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lovd2_RS1.html
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lovd2_RS1.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;
padding-right: 40px;
}
</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=AIRE&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 to 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();
}
$dis_url = "http://findis.org/diseases.html?disease=#".$disname."_desc";
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 style="font-size: 1em;" target="_blank" href="http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=RS1">RS1</a></b><br/>
<!-- NCBI gene link -->
<b id="gene_info" style="font-size: 1.1em; color: #FGFGFG;">
NCBI Gene: <a style="font-size: 1em;" target="_blank" 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:
<?php
$curator = isset($_GET['curator'])?$_GET['curator']:false;
if (!curator) {
header("HTTP/1.0 400 Bad Request");
echo "Curator name is missing";
exit();
}
echo $curator;
?></b><br/>
<!-- Download all variants link -->
<b id="gene_info" style="font-size: 1em; color: #FGFGFG;"><a style="font-size: 1em;" href="downloads/RS1.tsv.txt">Download Finnish <?php
$gene = isset($_GET['gene'])?$_GET['gene']:false;
echo $gene; ?> variants</a> in tab-separated format.</b>
</td></tr>
</table>
<h3 style="clear: left; position: relative; display: block; left:-25;"><IMG src="img/globe_blu_sm.jpeg" align="middle"/> Native Variants</h3>
<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="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="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/DNA_published,ASC';document.forms[0].submit();"> <th>Var_pub_as</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/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="200" 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="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="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Origin,ASC';document.forms[0].submit();"> <th>Origin</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/Reference,ASC';document.forms[0].submit();"> <th>Reference</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/Detection/Template,ASC';document.forms[0].submit();"> <th>Detection/Template</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/Detection/Technique,ASC';document.forms[0].submit();"> <th>Detection/Technique</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="100" 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="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Variant/Test_Protein,ASC';document.forms[0].submit();"> <th>Protein_data</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/Phenotype_2,ASC';document.forms[0].submit();"> <th>Phenotype additional</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/Remarks,ASC';document.forms[0].submit();"> <th>Remarks</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="200" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Phenotype/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='Patient/Consanguinity,ASC';document.forms[0].submit();"> <th>Consanguinity</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/Families_Patients,ASC';document.forms[0].submit();"> <th>Families/Patients</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="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> <th valign="top" width="104" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Origin/Ethnic,ASC';document.forms[0].submit();"> <th>Ethnic origin</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="90" class="order"> <table border="0" cellpadding="0" cellspacing="0" width="100%" class="S11"> <tbody><tr onclick="document.forms[0].order.value='Patient/Age_onset,ASC';document.forms[0].submit();"> <th>Age_onset</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_onset,ASC';document.forms[0].submit();"> <th>Phenotype_onset</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/eye/variants.php?select_db=RS1&action=view&view=0003667%2C0000002%2C10';" class=""> <td width="50">+/?</td> <td width="50">1_6</td> <td width="200" class="order"><a href="./variants.php?select_db=RS1&action=view&view=0003667%2C0000002%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.0</a> + c.325G>C</td> <td width="200">-</td> <td width="200">r.0</td> <td width="200">p.0</td> <td width="200">RS1_00000</td> <td width="200">no paternal X-chromosome</td> <td width="200">germline (inherited)</td> <td width="200">-</td> <td width="144">DNA</td> <td width="200">?</td> <td width="90">-</td> <td width="100">-</td> <td width="200">-</td> <td width="200">retinoschisis, X-linked, type-1 (RS-1)</td> <td width="200">-</td> <td width="200">19% of Finnish RS mutations</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00001', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">JdD</a></td> <td width="200">familial</td> <td width="200">-</td> <td width="136">-</td> <td width="80">1</td> <td width="136">Finland</td> <td width="104">-</td> <td width="60">M</td> <td width="90">-</td> <td width="200">-</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/eye/variants.php?select_db=RS1&action=view&view=0003668%2C0000002%2C10';" class=""> <td width="50">+/?</td> <td width="50">1_6</td> <td width="200" class="order"><a href="./variants.php?select_db=RS1&action=view&view=0003668%2C0000002%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.0</a> + c.325G>C</td> <td width="200">-</td> <td width="200">r.0</td> <td width="200">p.0</td> <td width="200">RS1_00000</td> <td width="200">no paternal X-chromosome</td> <td width="200">germline (inherited)</td> <td width="200">-</td> <td width="144">DNA</td> <td width="200">?</td> <td width="90">-</td> <td width="100">-</td> <td width="200">-</td> <td width="200">retinoschisis, X-linked, type-1 (RS-1)</td> <td width="200">-</td> <td width="200">-</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00001', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">JdD</a></td> <td width="200">familial</td> <td width="200">-</td> <td width="136">-</td> <td width="80">1</td> <td width="136">Finland</td> <td width="104">-</td> <td width="60">?</td> <td width="90">-</td> <td width="200">-</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/eye/variants.php?select_db=RS1&action=view&view=0003743%2C0000002%2C10';" class=""> <td width="50">+/?</td> <td width="50">1_6</td> <td width="200" class="order"><a href="./variants.php?select_db=RS1&action=view&view=0003743%2C0000002%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.0</a> + c.214G>A</td> <td width="200">-</td> <td width="200">r.0</td> <td width="200">p.0</td> <td width="200">RS1_00000</td> <td width="200">no paternal X-chromosome</td> <td width="200">germline (inherited)</td> <td width="200">-</td> <td width="144">DNA</td> <td width="200">?</td> <td width="90">-</td> <td width="100">-</td> <td width="200">-</td> <td width="200">retinoschisis, X-linked, type-1 (RS-1)</td> <td width="200">-</td> <td width="200">70% of Finnish RS mutations</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00001', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">JdD</a></td> <td width="200">familial</td> <td width="200">-</td> <td width="136">-</td> <td width="80">1</td> <td width="136">Finland</td> <td width="104">-</td> <td width="60">M</td> <td width="90">-</td> <td width="200">-</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/eye/variants.php?select_db=RS1&action=view&view=0003791%2C0000002%2C10';" class=""> <td width="50">+/?</td> <td width="50">1_6</td> <td width="200" class="order"><a href="./variants.php?select_db=RS1&action=view&view=0003791%2C0000002%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.0</a> + c.221G>T</td> <td width="200">-</td> <td width="200">r.0</td> <td width="200">p.0</td> <td width="200">RS1_00000</td> <td width="200">no paternal X-chromosome</td> <td width="200">germline (inherited)</td> <td width="200">-</td> <td width="144">DNA</td> <td width="200">?</td> <td width="90">-</td> <td width="100">-</td> <td width="200">-</td> <td width="200">retinoschisis, X-linked, type-1 (RS-1)</td> <td width="200">-</td> <td width="200">6% of Finnish RS mutations</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00001', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">JdD</a></td> <td width="200">familial</td> <td width="200">-</td> <td width="136">-</td> <td width="80">1</td> <td width="136">Finland</td> <td width="104">-</td> <td width="60">M</td> <td width="90">-</td> <td width="200">-</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/eye/variants.php?select_db=RS1&action=view&view=0003907%2C0000002%2C10';" class=""> <td width="50">+/?</td> <td width="50">1_6</td> <td width="200" class="order"><a href="./variants.php?select_db=RS1&action=view&view=0003907%2C0000002%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.0</a> + c.608C>T</td> <td width="200">-</td> <td width="200">r.0</td> <td width="200">p.0</td> <td width="200">RS1_00000</td> <td width="200">no paternal X-chromosome</td> <td width="200">germline (inherited)</td> <td width="200">-</td> <td width="144">DNA</td> <td width="200">?</td> <td width="90">-</td> <td width="100">-</td> <td width="200">-</td> <td width="200">retinoschisis, X-linked, type-1 (RS-1)</td> <td width="200">-</td> <td width="200">-</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00001', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">JdD</a></td> <td width="200">familial</td> <td width="200">-</td> <td width="136">-</td> <td width="80">1</td> <td width="136">Finland</td> <td width="104">-</td> <td width="60">?</td> <td width="90">-</td> <td width="200">-</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/eye/variants.php?select_db=RS1&action=view&view=0003942%2C0000002%2C10';" class=""> <td width="50">+/?</td> <td width="50">1_6</td> <td width="200" class="order"><a href="./variants.php?select_db=RS1&action=view&view=0003942%2C0000002%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.0</a> + c.554C>A</td> <td width="200">-</td> <td width="200">r.0</td> <td width="200">p.0</td> <td width="200">RS1_00000</td> <td width="200">no paternal X-chromosome</td> <td width="200">germline (inherited)</td> <td width="200">-</td> <td width="144">DNA</td> <td width="200">?</td> <td width="90">-</td> <td width="100">-</td> <td width="200">-</td> <td width="200">retinoschisis, X-linked, type-1 (RS-1)</td> <td width="200">-</td> <td width="200">-</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00001', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">JdD</a></td> <td width="200">familial</td> <td width="200">-</td> <td width="136">-</td> <td width="80">1</td> <td width="136">Finland</td> <td width="104">-</td> <td width="60">?</td> <td width="90">-</td> <td width="200">-</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/eye/variants.php?select_db=RS1&action=view&view=0003943%2C0000002%2C10';" class=""> <td width="50">+/?</td> <td width="50">1_6</td> <td width="200" class="order"><a href="./variants.php?select_db=RS1&action=view&view=0003943%2C0000002%2C10" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.0</a> + c.625C>G</td> <td width="200">-</td> <td width="200">r.0</td> <td width="200">p.0</td> <td width="200">RS1_00000</td> <td width="200">no paternal X-chromosome</td> <td width="200">germline (inherited)</td> <td width="200">-</td> <td width="144">DNA</td> <td width="200">?</td> <td width="90">-</td> <td width="100">-</td> <td width="200">-</td> <td width="200">retinoschisis, X-linked, type-1 (RS-1)</td> <td width="200">-</td> <td width="200">-</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00001', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">JdD</a></td> <td width="200">familial</td> <td width="200">-</td> <td width="136">-</td> <td width="80">1</td> <td width="136">Finland</td> <td width="104">-</td> <td width="60">?</td> <td width="90">-</td> <td width="200">-</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/eye/variants.php?select_db=RS1&action=view&view=0003743%2C0000100%2C20';" class=""> <td width="50">+/?</td> <td width="50">4</td> <td width="200" class="order"><a href="./variants.php?select_db=RS1&action=view&view=0003743%2C0000100%2C20" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.214G>A</a> + c.0</td> <td width="200">-</td> <td width="200">r.(?)</td> <td width="200">p.(Glu72Lys)</td> <td width="200">RS1_00029</td> <td width="200">-</td> <td width="200">germline (inherited)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/10234514" target="_blank">Huopaniemi 1999</a></td> <td width="144">DNA</td> <td width="200">SSCA</td> <td width="90">-</td> <td width="100">TaqI-</td> <td width="200">-</td> <td width="200">retinoschisis, X-linked, type-1 (RS-1)</td> <td width="200">-</td> <td width="200">70% of Finnish RS mutations</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00001', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">JdD</a></td> <td width="200">familial</td> <td width="200">-</td> <td width="136">-</td> <td width="80">1</td> <td width="136">Finland</td> <td width="104">-</td> <td width="60">M</td> <td width="90">-</td> <td width="200">-</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/eye/variants.php?select_db=RS1&action=view&view=0003791%2C0000101%2C20';" class=""> <td width="50">+/?</td> <td width="50">4</td> <td width="200" class="order"><a href="./variants.php?select_db=RS1&action=view&view=0003791%2C0000101%2C20" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.221G>T</a> + c.0</td> <td width="200">-</td> <td width="200">r.(?)</td> <td width="200">p.(Gly74Val)</td> <td width="200">RS1_00031</td> <td width="200">-</td> <td width="200">germline (inherited)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/10234514" target="_blank">Huopaniemi 1999</a>, <a href="http://www.omim.org/entry/312700#0005" target="_blank">(OMIM 0005)</a></td> <td width="144">DNA</td> <td width="200">SSCA</td> <td width="90">-</td> <td width="100">-MnlI</td> <td width="200">-</td> <td width="200">retinoschisis, X-linked, type-1 (RS-1)</td> <td width="200">-</td> <td width="200">6% of Finnish RS mutations</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00001', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">JdD</a></td> <td width="200">familial</td> <td width="200">-</td> <td width="136">-</td> <td width="80">1</td> <td width="136">Finland</td> <td width="104">-</td> <td width="60">M</td> <td width="90">-</td> <td width="200">-</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/eye/variants.php?select_db=RS1&action=view&view=0003667%2C0000099%2C20';" class=""> <td width="50">+/?</td> <td width="50">4</td> <td width="200" class="order"><a href="./variants.php?select_db=RS1&action=view&view=0003667%2C0000099%2C20" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.325G>C</a> + c.0</td> <td width="200">-</td> <td width="200">r.(?)</td> <td width="200">p.(Gly109Arg)</td> <td width="200">RS1_00006</td> <td width="200">-</td> <td width="200">germline (inherited)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/10234514" target="_blank">Huopaniemi 1999</a>, <a href="http://www.omim.org/entry/312700#0006" target="_blank">(OMIM 0006)</a></td> <td width="144">DNA</td> <td width="200">SSCA</td> <td width="90">-</td> <td width="100">-</td> <td width="200">-</td> <td width="200">retinoschisis, X-linked, type-1 (RS-1)</td> <td width="200">-</td> <td width="200">19% of Finnish RS mutations</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00001', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">JdD</a></td> <td width="200">familial</td> <td width="200">-</td> <td width="136">-</td> <td width="80">1</td> <td width="136">Finland</td> <td width="104">-</td> <td width="60">M</td> <td width="90">-</td> <td width="200">-</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/eye/variants.php?select_db=RS1&action=view&view=0003668%2C0000358%2C20';" class=""> <td width="50">+/?</td> <td width="50">4</td> <td width="200" class="order"><a href="./variants.php?select_db=RS1&action=view&view=0003668%2C0000358%2C20" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.325G>C</a> + c.0</td> <td width="200">-</td> <td width="200">r.(?)</td> <td width="200">p.(Gly109Arg)</td> <td width="200">RS1_00006</td> <td width="200">-</td> <td width="200">germline (inherited)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/09618178" target="_blank">RS-consortium 1998, group 4</a></td> <td width="144">DNA</td> <td width="200">SSCA</td> <td width="90">-</td> <td width="100">-</td> <td width="200">-</td> <td width="200">retinoschisis, X-linked, type-1 (RS-1)</td> <td width="200">-</td> <td width="200">-</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00001', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">JdD</a></td> <td width="200">familial</td> <td width="200">-</td> <td width="136">-</td> <td width="80">1</td> <td width="136">Finland</td> <td width="104">-</td> <td width="60">?</td> <td width="90">-</td> <td width="200">-</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/eye/variants.php?select_db=RS1&action=view&view=0003942%2C0000104%2C20';"> <td width="50">+/?</td> <td width="50">6</td> <td width="200" class="order"><a href="./variants.php?select_db=RS1&action=view&view=0003942%2C0000104%2C20" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.554C>A</a> + c.0</td> <td width="200">-</td> <td width="200">r.(?)</td> <td width="200">p.(Thr185Lys)</td> <td width="200">RS1_00098</td> <td width="200">-</td> <td width="200">germline (inherited)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/10234514" target="_blank">Huopaniemi 1999</a></td> <td width="144">DNA</td> <td width="200">SSCA</td> <td width="90">-</td> <td width="100">+DsaI, -StyI</td> <td width="200">-</td> <td width="200">retinoschisis, X-linked, type-1 (RS-1)</td> <td width="200">-</td> <td width="200">-</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00001', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">JdD</a></td> <td width="200">familial</td> <td width="200">-</td> <td width="136">-</td> <td width="80">1</td> <td width="136">Finland</td> <td width="104">-</td> <td width="60">?</td> <td width="90">-</td> <td width="200">-</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/eye/variants.php?select_db=RS1&action=view&view=0003907%2C0000102%2C20';" class=""> <td width="50">+/?</td> <td width="50">6</td> <td width="200" class="order"><a href="./variants.php?select_db=RS1&action=view&view=0003907%2C0000102%2C20" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.608C>T</a> + c.0</td> <td width="200">-</td> <td width="200">r.(?)</td> <td width="200">p.(Pro203Leu)</td> <td width="200">RS1_00077</td> <td width="200">-</td> <td width="200">germline (inherited)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/10234514" target="_blank">Huopaniemi 1999</a></td> <td width="144">DNA</td> <td width="200">SSCA</td> <td width="90">-</td> <td width="100">-MspA1I</td> <td width="200">-</td> <td width="200">retinoschisis, X-linked, type-1 (RS-1)</td> <td width="200">-</td> <td width="200">-</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00001', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">JdD</a></td> <td width="200">familial</td> <td width="200">-</td> <td width="136">-</td> <td width="80">1</td> <td width="136">Finland</td> <td width="104">-</td> <td width="60">?</td> <td width="90">-</td> <td width="200">-</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/eye/variants.php?select_db=RS1&action=view&view=0003943%2C0000105%2C20';" class=""> <td width="50">+/?</td> <td width="50">6</td> <td width="200" class="order"><a href="./variants.php?select_db=RS1&action=view&view=0003943%2C0000105%2C20" class="data table table-striped table-hover table-bordered" style="max-width: none;">c.625C>G</a> + c.0</td> <td width="200">-</td> <td width="200">r.(?)</td> <td width="200">p.(Arg209Gly)</td> <td width="200">RS1_00099</td> <td width="200">-</td> <td width="200">germline (inherited)</td> <td width="200"><a href="http://www.ncbi.nlm.nih.gov/pubmed/10234514" target="_blank">Huopaniemi 1999</a></td> <td width="144">DNA</td> <td width="200">SSCA</td> <td width="90">-</td> <td width="100">-AciI</td> <td width="200">-</td> <td width="200">retinoschisis, X-linked, type-1 (RS-1)</td> <td width="200">-</td> <td width="200">-</td> <td width="200"><a href="#" onclick="lovd_openWindow('./submitters.php?action=view&view=00001', 'SubmitterView', 400, 175, event.screenX - 50, event.screenY - 50); return false;">JdD</a></td> <td width="200">familial</td> <td width="200">-</td> <td width="136">-</td> <td width="80">1</td> <td width="136">Finland</td> <td width="104">-</td> <td width="60">?</td> <td width="90">-</td> <td width="200">-</td></tr></tbody></table>
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