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lovd2_CLRN1.html
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lovd2_CLRN1.html
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<!DOCTYPE HTML>
<HEAD>
<TITLE>FinDis</TITLE>
<!--script>
document.write('<div id="loading"><p><b>LOADING</b>...</p></div><style type="text/css">#wrapper{visibility:hidden}#loading{margin:100px auto;width:480px;border:5px solid #777;padding:20px;text-align:left;}</style>');
</script-->
</HEAD>
<script src="http://ajax.googleapis.com/ajax/libs/jquery/1.7.2/jquery.min.js"></script>
<script src="js_css/jquery.tools.min.js"></script>
<script language="javascript" src="js_css/jquery.transform.js"></script>
<script type="text/javascript" src="js_css/smooth.pack.js"></script>
<style type="text/css">
body {
padding-top: 60px;
padding-bottom: 40px;
padding-left: 60px;
}
</style>
<link rel="stylesheet" type="text/css" href="js_css/standalone.css">
<link rel="stylesheet" type="text/css" href="js_css/styles.css">
<style>
a:hover {
color:#red;
}
#gene_info {
color: grey;
}
div.wrap {
width:830px;
margin-bottom:40px;
margin-left: auto ;
margin-right: auto ;
background:white;
}
.wrap .pane {
font-size:14px;
display:none;
padding:20px;
border:1px solid #999;
border-top:0;
_background-image:none;
background:white;
}
.bImage {
text-align:center;
margin-top:10px;
margin-bottom:10px;
padding:10px;
border:1px;
}
</style>
<script>
function replaceScript() {
var toReplace2 = '<br>';
var replaceWith2 ='';
document.body.innerHTML = document.body.innerHTML.replace(toReplace2, replaceWith2);
var toReplace = 'Fill in at least one of the origin fields to search the gene databases.';
var replaceWith ='';
document.body.innerHTML = document.body.innerHTML.replace(toReplace, replaceWith);
}
</script>
<BODY onload="replaceScript();">
<div id="wrapper">
<div class="wpmenuspan">
<H1><img id="titlelogo" src="img/flag_lg.png"border="0"/>HVP Country Node</H1>
<span id="wpmenubloc">
<ul class="navlistop">
<li><a href="http://findis.org/index.html" class="wpmenu"><b>Home</b> </a></li>
<li><a href="http://findis.org/diseases.html" class="wpmenu"><b>Diseases</b></a></li>
<li><a href="http://findis.org/genes.html" class="wpmenu"><b>Genes</b></a></li>
<li><a href="http://findis.org/publications.html" class="wpmenu"><b>Publications</b></a></li>
<li><a href="http://findis.org/links.html" class="wpmenu"><b>Links</b></a></li>
</ul>
</span>
<!--[if IE 8]>
<style type="text/css">
.wptitle {
left: -200; /* \9 IE 8 and below */
}
</style>
<![endif]-->
<h4 class="wptitle" id="wlogotitle">
<!--[if IE 8]>
<![endif]-->
National/Ethnic Disease Database
</h4>
<!--img id="logoblock1" src="js/logoblock.png" height="" width=""/>
<img id="logoblock2" src="js/logoblock.png" height="" width=""/-->
</div>
<center>
<img src="img/blue_globe.jpeg" id="dis" height="280px" width="300px" style="position: absolute; top: -50;left: 775;">
</center>
<br/><br/><br/><br/><br/><br/>
<!--
Process query params:
gene=CLRN1&name=Autoimmune%20regulator&ensemb=ENSG00000160224&diseases=APECED
-->
<br/>
<table class="table table-striped table-hover table-bordered" style="width: 600px; position: relative; left:0px;" border="0" cellpadding="3" width="40%">
<tr><td style="vertical-align:middle;">
<h3><?php
$gene = isset($_GET['gene'])?$_GET['gene']:false;
if (!$gene) {
header("HTTP/1.0 400 Bad Request");
echo "Gene parameter is missing";
exit();
}
echo $gene; ?></h3>
<!-- gene name spelled out
CHROMOSOME 10 OPEN READING FRAME 2 -->
<b id="gene_info" style="font-size: 1.6em; position:relative; top:-19px;">
<?php
$name = isset($_GET['name'])?$_GET['name']:false;
if (!$name) {
header("HTTP/1.0 400 Bad Request");
echo "Name parameter is missing or malformed";
exit();
}
echo $name; ?></b>
</td><td>
<!-- Diseases associated with this gene
-->
<b id="gene_info" style="font-size: 1.1em; color: #FGFGFG;">
Diseases associated with this gene:
<?php
$disname = isset($_GET['disease'])?$_GET['disease']:false;
if (!$disname) {
header("HTTP/1.0 400 Bad Request");
echo "Disease parameter is missing";
exit();
}
$dis_url = "disease.html?disease=".$disname;
echo '<a href="'.$dis_url.'">'.$disname.'</a>';
?>
</a></b></br>
<!-- LOVD gene link -->
<b id="gene_info" style="font-size: 1.1em; color: #FGFGFG;">
LOVD Gene: <a target="_blank" style="font-size: 1em;" href="https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=search_unique&order=Variant%2FDNA%2CASC&hide_col=&show_col=&limit=25&search_Variant%2FLocation=&search_Variant%2FExon=&search_Variant%2FDNA=&search_Variant%2FDNA_published=&search_Variant%2FRNA=&search_Variant%2FProtein=&search_Variant%2FInheritance=&search_Variant%2FRemarks=&search_Variant%2FReference=&search_Variant%2FHSF=&search_Variant%2FdbSNP=&search_Variant%2FUSMA=&search_Variant%2FRestriction_site=&search_Variant%2FDBID=&search_Variant%2FDNA_hg19=">CLRN1</a></b><br/>
<!-- NCBI gene link -->
<b id="gene_info" style="font-size: 1.1em; color: #FGFGFG;">
NCBI Gene: <a target="_blank" style="font-size: 1em;" href="http://www.ncbi.nlm.nih.gov/gene/<?php
$ncbi = isset($_GET['ncbi'])?$_GET['ncbi']:false;
echo $ncbi; ?>"><?php
$gene = isset($_GET['gene'])?$_GET['gene']:false;
echo $gene; ?></a></b><br/>
<!-- Link to Genetics Home Reference
-->
<b id="gene_info" style="font-size: 1.1em; color: #FGFGFG;">
Gene Home Reference: <a href="http://ghr.nlm.nih.gov/gene/<?php
$gene = isset($_GET['gene'])?$_GET['gene']:false;
if (!$gene) {
header("HTTP/1.0 400 Bad Request");
echo "Gene parameter is missing";
exit();
}
echo $gene; ?> " target="_blank"><?php
$gene = isset($_GET['gene'])?$_GET['gene']:false;
if (!$gene) {
header("HTTP/1.0 400 Bad Request");
echo "Gene parameter is missing";
exit();
}
echo $gene;
?></a>
</b></br>
<!-- Ensembl + OMIM links
-->
<b id="gene_info" style="font-size: 1.1em; color: #FGFGFG;">
Ensembl gene:
<?php
$ename = isset($_GET['ensemb'])?$_GET['ensemb']:false;
if (!ename) {
header("HTTP/1.0 400 Bad Request");
echo "Ensembl ID is missing";
exit();
}
$eg_url = "http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=".$ename;
echo '<a href="'.$eg_url.'" target="_blank">'.$ename.'</a>';
?>
<br/>
Ensembl location:
<?php
$ename = isset($_GET['ensemb'])?$_GET['ensemb']:false;
if (!ename) {
header("HTTP/1.0 400 Bad Request");
echo "Ensembl ID is missing";
exit();
}
$eg_url = "http://www.ensembl.org/Homo_sapiens/Location/View?g=".$ename;
echo '<a href="'.$eg_url.'" target="_blank">'.$ename.'</a>';
?></a></b><br/>
<!-- OMIM link -->
<b id="gene_info" style="font-size: 1.1em; color: #FGFGFG;">
OMIM gene:
<?php
$oname = isset($_GET['omim'])?$_GET['omim']:false;
if (!oname) {
header("HTTP/1.0 400 Bad Request");
echo "OMIM ID is missing";
exit();
}
$om_url = "http://omim.org/entry/".$oname;
echo '<a href="'.$om_url.'" target="_blank">'.$oname.'</a>';
?></a></b><br/>
<!-- External Curator Info -->
<b id="gene_info" style="font-size: 1.1em; color: #FGFGFG;">
Curator: David Baux</b><br/>
<!-- Download all variants link -->
<b id="gene_info" style="font-size: 1em; color: #FGFGFG;"><a style="font-size: 1em;" href="downloads/CLRN1.tsv.txt">Download Finnish CLRN1 variants</a> in tab-separated format.</b>
</td></tr>
</table>
<br/>
<h3 style="clear: left; position: relative; display: block; left:-25;"><IMG src="img/globe_blu_sm.jpeg" align="middle"/> Native Variants</h3>
<div>
<table border="0" cellpadding="0" cellspacing="1" class="data table table-striped table-hover table-bordered" style="max-width: none;"> <tbody><tr> <th valign="top" width="50" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='pathogenic_,ASC';document.forms[0].submit();"> <th>Path.</th> </tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Location,ASC';document.forms[0].submit();"> <th>Location</th> </tbody></table></th> <th valign="top" width="50" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Exon,ASC';document.forms[0].submit();"> <th>Exon</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DNA,DESC';document.forms[0].submit();"> <th>DNA change</th> <td align="right" width="13"> </td> <td align="right" width="13"></td></tr></tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/RNA,ASC';document.forms[0].submit();"> <th>RNA change</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Protein,ASC';document.forms[0].submit();"> <th>Protein</th> </tbody></table></th> <th valign="top" width="150" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Domain,ASC';document.forms[0].submit();"> <th>Protein Domain</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Inheritance,ASC';document.forms[0].submit();"> <th>Inheritance</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Remarks,ASC';document.forms[0].submit();"> <th>Variant remarks</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/dbSNP,ASC';document.forms[0].submit();"> <th>dbSNP/RFC</th> </tbody></table></th> <th valign="top" width="150" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Reference,ASC';document.forms[0].submit();"> <th>Reference</th> </tbody></table></th> <th valign="top" width="150" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Reported_effect,ASC';document.forms[0].submit();"> <th>Reported effect / publication</th> </tbody></table></th> <th valign="top" width="90" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Frequency,ASC';document.forms[0].submit();"> <th>Frequency</th> </tbody></table></th> <th valign="top" width="50" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/USMA,ASC';document.forms[0].submit();"> <th>Missense</th> </tbody></table></th> <th valign="top" width="50" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/HSF,ASC';document.forms[0].submit();"> <th>HSF</th> </tbody></table></th> <th valign="top" width="75" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Restriction_site,ASC';document.forms[0].submit();"> <th>Re-site</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DBID,ASC';document.forms[0].submit();"> <th>DB-ID</th> </tbody></table></th> <th valign="top" width="144" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DNA_hg19,ASC';document.forms[0].submit();"> <th>Genomic DNA change</th> </tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Patient_ID,ASC';document.forms[0].submit();"> <th>Patient ID</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Phenotype/Disease,ASC';document.forms[0].submit();"> <th>Disease</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Reference,ASC';document.forms[0].submit();"> <th>Reference</th> </tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Detection/Template,ASC';document.forms[0].submit();"> <th>Template</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Detection/Technique,ASC';document.forms[0].submit();"> <th>Technique</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Remarks,ASC';document.forms[0].submit();"> <th>Remarks</th> </tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Times_Reported,ASC';document.forms[0].submit();"> <th># Reported</th> </tbody></table></th> <th valign="top" width="60" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Gender,ASC';document.forms[0].submit();"> <th>Gender</th> </tbody></table></th> <th valign="top" width="136" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Origin/Geographic,ASC';document.forms[0].submit();"> <th>Geographic origin</th> </tbody></table></th></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001591%2C0000075%2C1';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">01</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001591%2C0000075%2C1" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.144T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Asn48Lys)</td> <td width="150">-</td> <td width="100">Heterozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111033258" target="_blank">rs111033258</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/19753315" target="_blank">Isosomppi et al., 2009</a></td> <td width="150">-</td> <td width="90">-</td> <td width="50"><a href="https://neuro-2.iurc.montp.inserm.fr/cgi-bin/USMA/USMA.fcgi?gene=USH3A&variant=N48K" target="_blank" rel="nofollow">USMA</a>, <a href="http://decrypthon.igbmc.fr/msv3d/cgi-bin/mutant?new=yes&protein=P58418&db=ms2phdb_all&mutation=p.Asn48Lys" target="_blank">MSV3d</a></td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.144T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">+PhoI;+StuI;+HaeIII;+CviKI_1;</td> <td width="100">CLRN1_00007</td> <td width="144">g.150690352A>C</td> <td width="80">FI0106100012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/19753315" target="_blank">Isosomppi et al., 2009</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0003543%2C0000189%2C1';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">01</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0003543%2C0000189%2C1" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.144T>G</a> + c.563C>A</td> <td width="100">r.(?)</td> <td width="200">p.(Asn48Lys)</td> <td width="150">-</td> <td width="100">Heterozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111033258" target="_blank">rs111033258</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/22964989" target="_blank">Ratnam et al., 2012</a></td> <td width="150">-</td> <td width="90">-</td> <td width="50"><a href="https://neuro-2.iurc.montp.inserm.fr/cgi-bin/USMA/USMA.fcgi?gene=USH3A&variant=N48K" target="_blank" rel="nofollow">USMA</a>, <a href="http://decrypthon.igbmc.fr/msv3d/cgi-bin/mutant?new=yes&protein=P58418&db=ms2phdb_all&mutation=p.Asn48Lys" target="_blank">MSV3d</a></td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.144T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">+PhoI;+StuI;+HaeIII;+CviKI_1;</td> <td width="100">CLRN1_00007</td> <td width="144">g.150690352A>C</td> <td width="80">FI0106400011</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/22964989" target="_blank">Ratnam et al., 2012</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">Male</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0003544%2C0000191%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">01</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0003544%2C0000191%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.144T>G</a> + c.144T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Asn48Lys)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111033258" target="_blank">rs111033258</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/22964989" target="_blank">Ratnam et al., 2012</a></td> <td width="150">-</td> <td width="90">-</td> <td width="50"><a href="https://neuro-2.iurc.montp.inserm.fr/cgi-bin/USMA/USMA.fcgi?gene=USH3A&variant=N48K" target="_blank" rel="nofollow">USMA</a>, <a href="http://decrypthon.igbmc.fr/msv3d/cgi-bin/mutant?new=yes&protein=P58418&db=ms2phdb_all&mutation=p.Asn48Lys" target="_blank">MSV3d</a></td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.144T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">+PhoI;+StuI;+HaeIII;+CviKI_1;</td> <td width="100">CLRN1_00007</td> <td width="144">g.150690352A>C</td> <td width="80">FI0106500020</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/22964989" target="_blank">Ratnam et al., 2012</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">Female</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0003545%2C0000191%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">01</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0003545%2C0000191%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.144T>G</a> + c.144T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Asn48Lys)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111033258" target="_blank">rs111033258</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/22964989" target="_blank">Ratnam et al., 2012</a></td> <td width="150">-</td> <td width="90">-</td> <td width="50"><a href="https://neuro-2.iurc.montp.inserm.fr/cgi-bin/USMA/USMA.fcgi?gene=USH3A&variant=N48K" target="_blank" rel="nofollow">USMA</a>, <a href="http://decrypthon.igbmc.fr/msv3d/cgi-bin/mutant?new=yes&protein=P58418&db=ms2phdb_all&mutation=p.Asn48Lys" target="_blank">MSV3d</a></td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.144T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">+PhoI;+StuI;+HaeIII;+CviKI_1;</td> <td width="100">CLRN1_00007</td> <td width="144">g.150690352A>C</td> <td width="80">FI0106600030</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/22964989" target="_blank">Ratnam et al., 2012</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">Female</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001529%2C0000008%2C2';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">02</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001529%2C0000008%2C2" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.359T>A</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Met120Lys)</td> <td width="150">Transmembrane 2 (101-121)</td> <td width="100">Heterozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908141" target="_blank">rs121908141</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">0/302 controls</td> <td width="50"><a href="https://neuro-2.iurc.montp.inserm.fr/cgi-bin/USMA/USMA.fcgi?gene=USH3A&variant=M120K" target="_blank" rel="nofollow">USMA</a>, <a href="http://decrypthon.igbmc.fr/msv3d/cgi-bin/mutant?new=yes&protein=P58418&db=ms2phdb_all&mutation=p.Met120Lys" target="_blank">MSV3d</a></td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.359T>A&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00004</td> <td width="144">g.150659443A>T</td> <td width="80">FI0100100011</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">Male</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001530%2C0000010%2C2';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">02</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001530%2C0000010%2C2" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.359T>A</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Met120Lys)</td> <td width="150">Transmembrane 2 (101-121)</td> <td width="100">Heterozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908141" target="_blank">rs121908141</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">0/302 controls</td> <td width="50"><a href="https://neuro-2.iurc.montp.inserm.fr/cgi-bin/USMA/USMA.fcgi?gene=USH3A&variant=M120K" target="_blank" rel="nofollow">USMA</a>, <a href="http://decrypthon.igbmc.fr/msv3d/cgi-bin/mutant?new=yes&protein=P58418&db=ms2phdb_all&mutation=p.Met120Lys" target="_blank">MSV3d</a></td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.359T>A&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00004</td> <td width="144">g.150659443A>T</td> <td width="80">FI0100100021</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Relative</td> <td width="80">1</td> <td width="60">Male</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001531%2C0000012%2C1';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">02</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001531%2C0000012%2C1" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.359T>A</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Met120Lys)</td> <td width="150">Transmembrane 2 (101-121)</td> <td width="100">Heterozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908141" target="_blank">rs121908141</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">0/302 controls</td> <td width="50"><a href="https://neuro-2.iurc.montp.inserm.fr/cgi-bin/USMA/USMA.fcgi?gene=USH3A&variant=M120K" target="_blank" rel="nofollow">USMA</a>, <a href="http://decrypthon.igbmc.fr/msv3d/cgi-bin/mutant?new=yes&protein=P58418&db=ms2phdb_all&mutation=p.Met120Lys" target="_blank">MSV3d</a></td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.359T>A&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00004</td> <td width="144">g.150659443A>T</td> <td width="80">FI0100200012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001532%2C0000014%2C1';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">02</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001532%2C0000014%2C1" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.359T>A</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Met120Lys)</td> <td width="150">Transmembrane 2 (101-121)</td> <td width="100">Heterozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908141" target="_blank">rs121908141</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">0/302 controls</td> <td width="50"><a href="https://neuro-2.iurc.montp.inserm.fr/cgi-bin/USMA/USMA.fcgi?gene=USH3A&variant=M120K" target="_blank" rel="nofollow">USMA</a>, <a href="http://decrypthon.igbmc.fr/msv3d/cgi-bin/mutant?new=yes&protein=P58418&db=ms2phdb_all&mutation=p.Met120Lys" target="_blank">MSV3d</a></td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.359T>A&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00004</td> <td width="144">g.150659443A>T</td> <td width="80">FI0100200022</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Relative</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001592%2C0000076%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">02</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001592%2C0000076%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.368C>A</a> + c.368C>A</td> <td width="100">r.(?)</td> <td width="200">p.(Ala123Asp)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100">-</td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/19753315" target="_blank">Isosomppi et al., 2009</a></td> <td width="150">-</td> <td width="90">0/90 controls</td> <td width="50"><a href="https://neuro-2.iurc.montp.inserm.fr/cgi-bin/USMA/USMA.fcgi?gene=USH3A&variant=A123D" target="_blank" rel="nofollow">USMA</a>, <a href="http://decrypthon.igbmc.fr/msv3d/cgi-bin/mutant?new=yes&protein=P58418&db=ms2phdb_all&mutation=p.Ala123Asp" target="_blank">MSV3d</a></td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.368C>A&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00001</td> <td width="144">g.150659434G>T</td> <td width="80">FI0106200012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/19753315" target="_blank">Isosomppi et al., 2009</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001529%2C0000009%2C1';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001529%2C0000009%2C1" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.359T>A</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Heterozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0100100011</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">Male</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001530%2C0000011%2C1';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001530%2C0000011%2C1" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.359T>A</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Heterozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0100100021</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Relative</td> <td width="80">1</td> <td width="60">Male</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001531%2C0000013%2C2';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001531%2C0000013%2C2" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.359T>A</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Heterozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0100200012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001532%2C0000015%2C2';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001532%2C0000015%2C2" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.359T>A</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Heterozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0100200022</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Relative</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001533%2C0000016%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001533%2C0000016%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0100300012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001534%2C0000017%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001534%2C0000017%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0100400012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001535%2C0000018%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001535%2C0000018%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0100500012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001536%2C0000019%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001536%2C0000019%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0100600012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001537%2C0000020%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001537%2C0000020%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0100700012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001538%2C0000021%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001538%2C0000021%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0100800012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001539%2C0000022%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001539%2C0000022%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0100900012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001540%2C0000023%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001540%2C0000023%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0101000012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001541%2C0000024%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001541%2C0000024%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0101100012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001542%2C0000025%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001542%2C0000025%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0106200012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001543%2C0000026%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001543%2C0000026%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0101300012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001544%2C0000027%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001544%2C0000027%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0101400012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr> <th valign="top" width="50" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='pathogenic_,ASC';document.forms[0].submit();"> <th>Path.</th> </tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Location,ASC';document.forms[0].submit();"> <th>Location</th> </tbody></table></th> <th valign="top" width="50" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Exon,ASC';document.forms[0].submit();"> <th>Exon</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DNA,DESC';document.forms[0].submit();"> <th>DNA change</th> <td align="right" width="13"> </td> <td align="right" width="13"></td></tr></tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/RNA,ASC';document.forms[0].submit();"> <th>RNA change</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Protein,ASC';document.forms[0].submit();"> <th>Protein</th> </tbody></table></th> <th valign="top" width="150" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Domain,ASC';document.forms[0].submit();"> <th>Protein Domain</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Inheritance,ASC';document.forms[0].submit();"> <th>Inheritance</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Remarks,ASC';document.forms[0].submit();"> <th>Variant remarks</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/dbSNP,ASC';document.forms[0].submit();"> <th>dbSNP/RFC</th> </tbody></table></th> <th valign="top" width="150" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Reference,ASC';document.forms[0].submit();"> <th>Reference</th> </tbody></table></th> <th valign="top" width="150" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Reported_effect,ASC';document.forms[0].submit();"> <th>Reported effect / publication</th> </tbody></table></th> <th valign="top" width="90" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Frequency,ASC';document.forms[0].submit();"> <th>Frequency</th> </tbody></table></th> <th valign="top" width="50" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/USMA,ASC';document.forms[0].submit();"> <th>Missense</th> </tbody></table></th> <th valign="top" width="50" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/HSF,ASC';document.forms[0].submit();"> <th>HSF</th> </tbody></table></th> <th valign="top" width="75" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Restriction_site,ASC';document.forms[0].submit();"> <th>Re-site</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DBID,ASC';document.forms[0].submit();"> <th>DB-ID</th> </tbody></table></th> <th valign="top" width="144" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DNA_hg19,ASC';document.forms[0].submit();"> <th>Genomic DNA change</th> </tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Patient_ID,ASC';document.forms[0].submit();"> <th>Patient ID</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Phenotype/Disease,ASC';document.forms[0].submit();"> <th>Disease</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Reference,ASC';document.forms[0].submit();"> <th>Reference</th> </tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Detection/Template,ASC';document.forms[0].submit();"> <th>Template</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Detection/Technique,ASC';document.forms[0].submit();"> <th>Technique</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Remarks,ASC';document.forms[0].submit();"> <th>Remarks</th> </tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Times_Reported,ASC';document.forms[0].submit();"> <th># Reported</th> </tbody></table></th> <th valign="top" width="60" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Gender,ASC';document.forms[0].submit();"> <th>Gender</th> </tbody></table></th> <th valign="top" width="136" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Origin/Geographic,ASC';document.forms[0].submit();"> <th>Geographic origin</th> </tbody></table></th></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001545%2C0000028%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001545%2C0000028%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0106300012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001546%2C0000029%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001546%2C0000029%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0101600012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001547%2C0000030%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001547%2C0000030%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0101700012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001548%2C0000031%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001548%2C0000031%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0101800012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001549%2C0000032%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001549%2C0000032%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0101900012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001550%2C0000033%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001550%2C0000033%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0102000012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001551%2C0000034%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001551%2C0000034%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0102100012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001552%2C0000035%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001552%2C0000035%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0102200012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001553%2C0000036%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001553%2C0000036%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0102300012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001554%2C0000037%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001554%2C0000037%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0102400012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001555%2C0000038%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001555%2C0000038%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0102500012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001556%2C0000039%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001556%2C0000039%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0102600012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001557%2C0000040%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001557%2C0000040%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0102700012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001558%2C0000041%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001558%2C0000041%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0102800012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001559%2C0000042%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001559%2C0000042%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0102900012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001560%2C0000043%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001560%2C0000043%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0103000012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001561%2C0000044%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001561%2C0000044%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0103100012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001562%2C0000045%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001562%2C0000045%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0103200012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001563%2C0000046%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001563%2C0000046%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0103300012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001564%2C0000047%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001564%2C0000047%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0103400012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001565%2C0000048%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001565%2C0000048%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0103500012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001566%2C0000049%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001566%2C0000049%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0103600012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001567%2C0000050%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001567%2C0000050%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0103700012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001568%2C0000051%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001568%2C0000051%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0103800012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001569%2C0000052%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001569%2C0000052%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0103900012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr> <th valign="top" width="50" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='pathogenic_,ASC';document.forms[0].submit();"> <th>Path.</th> </tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Location,ASC';document.forms[0].submit();"> <th>Location</th> </tbody></table></th> <th valign="top" width="50" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Exon,ASC';document.forms[0].submit();"> <th>Exon</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DNA,DESC';document.forms[0].submit();"> <th>DNA change</th> <td align="right" width="13"> </td> <td align="right" width="13"></td></tr></tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/RNA,ASC';document.forms[0].submit();"> <th>RNA change</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Protein,ASC';document.forms[0].submit();"> <th>Protein</th> </tbody></table></th> <th valign="top" width="150" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Domain,ASC';document.forms[0].submit();"> <th>Protein Domain</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Inheritance,ASC';document.forms[0].submit();"> <th>Inheritance</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Remarks,ASC';document.forms[0].submit();"> <th>Variant remarks</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/dbSNP,ASC';document.forms[0].submit();"> <th>dbSNP/RFC</th> </tbody></table></th> <th valign="top" width="150" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Reference,ASC';document.forms[0].submit();"> <th>Reference</th> </tbody></table></th> <th valign="top" width="150" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Reported_effect,ASC';document.forms[0].submit();"> <th>Reported effect / publication</th> </tbody></table></th> <th valign="top" width="90" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Frequency,ASC';document.forms[0].submit();"> <th>Frequency</th> </tbody></table></th> <th valign="top" width="50" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/USMA,ASC';document.forms[0].submit();"> <th>Missense</th> </tbody></table></th> <th valign="top" width="50" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/HSF,ASC';document.forms[0].submit();"> <th>HSF</th> </tbody></table></th> <th valign="top" width="75" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Restriction_site,ASC';document.forms[0].submit();"> <th>Re-site</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DBID,ASC';document.forms[0].submit();"> <th>DB-ID</th> </tbody></table></th> <th valign="top" width="144" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DNA_hg19,ASC';document.forms[0].submit();"> <th>Genomic DNA change</th> </tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Patient_ID,ASC';document.forms[0].submit();"> <th>Patient ID</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Phenotype/Disease,ASC';document.forms[0].submit();"> <th>Disease</th> </tbody></table></th> <th valign="top" width="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Reference,ASC';document.forms[0].submit();"> <th>Reference</th> </tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Detection/Template,ASC';document.forms[0].submit();"> <th>Template</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Detection/Technique,ASC';document.forms[0].submit();"> <th>Technique</th> </tbody></table></th> <th valign="top" width="100" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Remarks,ASC';document.forms[0].submit();"> <th>Remarks</th> </tbody></table></th> <th valign="top" width="80" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Times_Reported,ASC';document.forms[0].submit();"> <th># Reported</th> </tbody></table></th> <th valign="top" width="60" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Gender,ASC';document.forms[0].submit();"> <th>Gender</th> </tbody></table></th> <th valign="top" width="136" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Origin/Geographic,ASC';document.forms[0].submit();"> <th>Geographic origin</th> </tbody></table></th></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001570%2C0000053%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001570%2C0000053%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0104000012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001571%2C0000054%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001571%2C0000054%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0104100012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001572%2C0000055%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001572%2C0000055%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0104200012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001573%2C0000056%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001573%2C0000056%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0104300012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001574%2C0000057%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001574%2C0000057%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0104400012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001575%2C0000058%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001575%2C0000058%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0104500012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001576%2C0000059%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001576%2C0000059%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0104600012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001577%2C0000060%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001577%2C0000060%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0104700012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001578%2C0000061%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001578%2C0000061%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0104800012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001579%2C0000062%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001579%2C0000062%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0104900012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001580%2C0000063%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001580%2C0000063%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0105000012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001581%2C0000064%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001581%2C0000064%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0105100012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001582%2C0000065%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001582%2C0000065%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0105200012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001583%2C0000066%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001583%2C0000066%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0105300012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001584%2C0000067%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001584%2C0000067%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="150">-</td> <td width="90">1/502 controls</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0105400012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524702" target="_blank">Joensuu et al., 2001</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001586%2C0000069%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001586%2C0000069%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/15650299" target="_blank">Plantinga et al., 2005</a></td> <td width="150">-</td> <td width="90">-</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0105600012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/15650299" target="_blank">Plantinga et al., 2005</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001587%2C0000070%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001587%2C0000070%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/15650299" target="_blank">Plantinga et al., 2005</a></td> <td width="150">-</td> <td width="90">-</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0105700012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/15650299" target="_blank">Plantinga et al., 2005</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001588%2C0000071%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001588%2C0000071%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/15650299" target="_blank">Plantinga et al., 2005</a></td> <td width="150">-</td> <td width="90">-</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0105800012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/15650299" target="_blank">Plantinga et al., 2005</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0001591%2C0000074%2C2';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0001591%2C0000074%2C2" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.144T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Heterozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/19753315" target="_blank">Isosomppi et al., 2009</a></td> <td width="150">-</td> <td width="90">-</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0106100012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/19753315" target="_blank">Isosomppi et al., 2009</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0003517%2C0000187%2C10';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0003517%2C0000187%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G, USH2A (1)</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/22681893" target="_blank">Vastinsalo et al., 2012</a></td> <td width="150">-</td> <td width="90">-</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0101200020</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/22681893" target="_blank">Vastinsalo et al., 2012</a></td> <td width="80">DNA</td> <td width="100">APEX, SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">Female</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0003518%2C0000188%2C10';"> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0003518%2C0000188%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.528T>G</a> + c.528T>G, USH2A (2)</td> <td width="100">r.(?)</td> <td width="200">p.(Tyr176*)</td> <td width="150">-</td> <td width="100">Homozygous</td> <td width="200">Pathogenic</td> <td width="100"><a href="http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908140" target="_blank">rs121908140</a></td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/22681893" target="_blank">Vastinsalo et al., 2012</a></td> <td width="150">Pathogenic</td> <td width="90">-</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.528T>G&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">-</td> <td width="100">CLRN1_00005</td> <td width="144">g.150645894A>C</td> <td width="80">FI0101500012</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/22681893" target="_blank">Vastinsalo et al., 2012</a></td> <td width="80">DNA</td> <td width="100">APEX, SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">-</td> <td width="136">FINLAND</td></tr> <tr valign="top" style="cursor : pointer; cursor : hand;" onmouseover="this.className = 'hover';" onmouseout="this.className = '';" onclick="window.location.href = 'https://grenada.lumc.nl/LOVD2/Usher_montpellier/variants.php?select_db=CLRN1&action=view&view=0003543%2C0000190%2C2';" class=""> <td width="50">+/+</td> <td width="80">Exon</td> <td width="50">03</td> <td width="200" class="order"><a href="./variants.php?select_db=CLRN1&action=view&view=0003543%2C0000190%2C2" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.563C>A</a> + c.144T>G</td> <td width="100">r.(?)</td> <td width="200">p.(Ser188*)</td> <td width="150">Transmembrane 4 (186-206)</td> <td width="100">Heterozygous</td> <td width="200">Pathogenic</td> <td width="100">-</td> <td width="150"><a href="http://www.ncbi.nlm.nih.gov/pubmed/22964989" target="_blank">Ratnam et al., 2012</a></td> <td width="150">-</td> <td width="90">-</td> <td width="50">-</td> <td width="50"><a href="http://www.umd.be/HSF/4DACTION/input_SSF?choix_analyse=ssf_batch&autoselect=yes&snp_select=yes&nuclposition5=200&nuclposition3=200&choix_bdd=transcript_id&texte=ENST00000327047&batch=c.563C>A&paramfulltables=onlyvariants&fenetreintron=yes&fenetretaille=20&paramimages=yes&showonly=no&matrice_3=yes&Matrice=PSS&Matrice=maxent&seuil_maxent5=0&seuil_maxent3=0&Matrice=BPS&Matrice=ESE finder&Matrice=RESCUE ESE&Matrice=ESE New&Matrice=Sironi&Matrice=Decamers&Matrice=ESS hnRNP&Matrice=PESE&Matrice=ESR&Matrice=EIE&seuil_sf2=72.98&seuil_sf2_esef=1.956&seuil_sf2ig=70.51&seuil_sf2ig_esef=1.867&seuil_sc35=75.05&seuil_sc35_esef=2.383&seuil_srp40=78.08&seuil_srp40_esef=2.67&seuil_srp55=73.86&seuil_srp55_esef=2.676&seuil_9g8=59.245&seuil_tra2=75.964&seuil_hnrnpa1=65.476&seuil_sironi1=60&seuil_sironi2=60&seuil_sironi3=60" target="_blank" rel="nofollow">HSF</a></td> <td width="75">+Tsp509I;-MnlI;</td> <td width="100">CLRN1_00034</td> <td width="144">g.150645859G>T</td> <td width="80">FI0106400011</td> <td width="200">Usher type III (USH3)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/22964989" target="_blank">Ratnam et al., 2012</a></td> <td width="80">DNA</td> <td width="100">SEQ</td> <td width="100">Proband</td> <td width="80">1</td> <td width="60">Male</td> <td width="136">FINLAND</td></tr></tbody></table>
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