OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154191621T>G | CA2466617955 | OPN1MW | c.579-67T>G (n.579-67T>G) n.588+1399T>G c.166-67T>G | dbSNP |
| X | g.154191621T= | CA2466617954 | OPN1MW | c.579-67T= (n.579-67T=) n.588+1399T= c.166-67T= | |
| X | g.154191625T>A | CA2695106899 | OPN1MW | c.579-63T>A (n.579-63T>A) n.588+1403T>A c.166-63T>A | gnomAD v4 |
| X | g.154191627G>C | CA2695106900 | OPN1MW | c.579-61G>C (n.579-61G>C) n.588+1405G>C c.166-61G>C | gnomAD v4 |
| X | g.154191628G>T | CA2824290655 | OPN1MW | c.579-60G>T (n.579-60G>T) n.588+1406G>T c.166-60G>T | |
| X | g.154191630C= | CA2466617956 | OPN1MW | c.579-58C= (n.579-58C=) n.588+1408C= c.166-58C= | |
| X | g.154191630C>T | CA873298033 | OPN1MW | c.579-58C>T (n.579-58C>T) n.588+1408C>T c.166-58C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154191631G>A | CA873298036 | OPN1MW | c.579-57G>A (n.579-57G>A) n.588+1409G>A c.166-57G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154191631G= | CA2466617957 | OPN1MW | c.579-57G= (n.579-57G=) n.588+1409G= c.166-57G= | |
| X | g.154191631G>T | CA2536128264 | OPN1MW | c.579-57G>T (n.579-57G>T) n.588+1409G>T c.166-57G>T | |
| X | g.154191635del | CA2695106901 | OPN1MW | c.579-53del (n.579-53del) n.588+1413del c.166-53del | gnomAD v4 |
| X | g.154191634G>T | CA2695106902 | OPN1MW | c.579-54G>T (n.579-54G>T) n.588+1412G>T c.166-54G>T | gnomAD v4 |
| X | g.154191635G>A | CA2695106903 | OPN1MW | c.579-53G>A (n.579-53G>A) n.588+1413G>A c.166-53G>A | gnomAD v4 |
| X | g.154191635G= | CA2466617958 | OPN1MW | c.579-53G= (n.579-53G=) n.588+1413G= c.166-53G= | |
| X | g.154191635G>T | CA873298041 | OPN1MW | c.579-53G>T (n.579-53G>T) n.588+1413G>T c.166-53G>T | dbSNP |
| X | g.154191640G>T | CA2695106904 | OPN1MW | c.579-48G>T (n.579-48G>T) n.588+1418G>T c.166-48G>T | gnomAD v4 |
| X | g.154191641G>T | CA2695106905 | OPN1MW | c.579-47G>T (n.579-47G>T) n.588+1419G>T c.166-47G>T | gnomAD v4 |
| X | g.154191642G>T | CA1138562337 | OPN1MW | c.579-46G>T (n.579-46G>T) n.588+1420G>T c.166-46G>T | gnomAD v3 gnomAD v4 |
| X | g.154191644C= | CA2466617959 | OPN1MW | c.579-44C= (n.579-44C=) n.588+1422C= c.166-44C= | |
| X | g.154191644C>G | CA2466617960 | OPN1MW | c.579-44C>G (n.579-44C>G) n.588+1422C>G c.166-44C>G | dbSNP |
| X | g.154191645A>C | CA2516574026 | OPN1MW | c.579-43A>C (n.579-43A>C) n.588+1423A>C c.166-43A>C | gnomAD v4 |
| X | g.154191650A>C | CA2695106906 | OPN1MW | c.579-38A>C (n.579-38A>C) n.588+1428A>C c.166-38A>C | gnomAD v4 |
| X | g.154191650A>G | CA2695106907 | OPN1MW | c.579-38A>G (n.579-38A>G) n.588+1428A>G c.166-38A>G | gnomAD v4 |
| X | g.154191651C>A | CA873298042 | OPN1MW | c.579-37C>A (n.579-37C>A) n.588+1429C>A c.166-37C>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154191651C= | CA2466617961 | OPN1MW | c.579-37C= (n.579-37C=) n.588+1429C= c.166-37C= | |
| X | g.154191653C>T | CA2602677993 | OPN1MW | c.579-35C>T (n.579-35C>T) n.588+1431C>T c.166-35C>T | gnomAD v3 gnomAD v4 |
| X | g.154191654T>C | CA2695106908 | OPN1MW | c.579-34T>C (n.579-34T>C) n.588+1432T>C c.166-34T>C | gnomAD v4 |
| X | g.154191655G>T | CA2695106909 | OPN1MW | c.579-33G>T (n.579-33G>T) n.588+1433G>T c.166-33G>T | gnomAD v4 |
| X | g.154191657A>C | CA2824290656 | OPN1MW | c.579-31A>C (n.579-31A>C) n.588+1435A>C c.166-31A>C | |
| X | g.154191660A>G | CA2602677994 | OPN1MW | c.579-28A>G (n.579-28A>G) n.588+1438A>G c.166-28A>G | gnomAD v3 gnomAD v4 |
| X | g.154191661G>C | CA2695106910 | OPN1MW | c.579-27G>C (n.579-27G>C) n.588+1439G>C c.166-27G>C | gnomAD v4 |
| X | g.154191667del | CA2739242254 | OPN1MW | c.579-21del (n.579-21del) n.588+1445del c.166-21del | dbSNP |
| X | g.154191667G>C | CA2695106911 | OPN1MW | c.579-21G>C (n.579-21G>C) n.588+1445G>C c.166-21G>C | gnomAD v4 |
| X | g.154191670G>C | CA2466617963 | OPN1MW | c.579-18G>C (n.579-18G>C) n.588+1448G>C c.166-18G>C | dbSNP |
| X | g.154191670G= | CA2466617962 | OPN1MW | c.579-18G= (n.579-18G=) n.588+1448G= c.166-18G= | |
| X | g.154191672C= | CA2466617964 | OPN1MW | c.579-16C= (n.579-16C=) n.588+1450C= c.166-16C= | |
| X | g.154191672C>T | CA873298043 | OPN1MW | c.579-16C>T (n.579-16C>T) n.588+1450C>T c.166-16C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154191673G>A | CA2695106912 | OPN1MW | c.579-15G>A (n.579-15G>A) n.588+1451G>A c.166-15G>A | gnomAD v4 |
| X | g.154191673G>T | CA1138562338 | OPN1MW | c.579-15G>T (n.579-15G>T) n.588+1451G>T c.166-15G>T | gnomAD v3 gnomAD v4 |
| X | g.154191674G>A | CA1138562339 | OPN1MW | c.579-14G>A (n.579-14G>A) n.588+1452G>A c.166-14G>A | gnomAD v3 gnomAD v4 |
| X | g.154191678T>G | CA2824290657 | OPN1MW | c.579-10T>G (n.579-10T>G) n.588+1456T>G c.166-10T>G | |
| X | g.154191683T>C | CA2526450841 | OPN1MW | c.579-5T>C (n.579-5T>C) n.588+1461T>C c.166-5T>C | |
| X | g.154191686A>C | CA415314617 | OPN1MW | c.579-2A>C (n.579-2A>C) n.588+1464A>C c.166-2A>C | |
| X | g.154191686A>G | CA415314616 | OPN1MW | c.579-2A>G (n.579-2A>G) n.588+1464A>G c.166-2A>G | |
| X | g.154191686A>T | CA415314615 | OPN1MW | c.579-2A>T (n.579-2A>T) n.588+1464A>T c.166-2A>T | |
| X | g.154191687G>A | CA415314618 | OPN1MW | c.579-1G>A (n.579-1G>A) n.588+1465G>A c.166-1G>A | |
| X | g.154191687G>C | CA415314620 | OPN1MW | c.579-1G>C (n.579-1G>C) n.588+1465G>C c.166-1G>C | gnomAD v4 |
| X | g.154191687G>T | CA415314619 | OPN1MW | c.579-1G>T (n.579-1G>T) n.588+1465G>T c.166-1G>T | |
| X | g.154191688G>A | CA519334727 | OPN1MW | c.579G>A (p.Arg193=) n.588+1466G>A c.166G>A | |
| X | g.154191688G>C | CA415314621 | OPN1MW | c.579G>C (p.Arg193Ser) n.588+1466G>C c.166G>C | |
| X | g.154191688G>T | CA415314622 | OPN1MW | c.579G>T (p.Arg193Ser) n.588+1466G>T c.166G>T | |
| X | g.154191689T>A | CA415314623 | OPN1MW | c.580T>A (p.Tyr194Asn) n.588+1467T>A c.167T>A | |
| X | g.154191689T>C | CA415314625 | OPN1MW | c.580T>C (p.Tyr194His) n.588+1467T>C c.167T>C | |
| X | g.154191689T>G | CA415314624 | OPN1MW | c.580T>G (p.Tyr194Asp) n.588+1467T>G c.167T>G | |
| X | g.154191690A>C | CA415314626 | OPN1MW | c.581A>C (p.Tyr194Ser) n.588+1468A>C c.168A>C | |
| X | g.154191690A>G | CA415314627 | OPN1MW | c.581A>G (p.Tyr194Cys) n.588+1468A>G c.168A>G | |
| X | g.154191690A>T | CA415314628 | OPN1MW | c.581A>T (p.Tyr194Phe) n.588+1468A>T c.168A>T | |
| X | g.154191691C>A | CA415314629 | OPN1MW | c.582C>A (p.Tyr194Ter) n.588+1469C>A c.169C>A | |
| X | g.154191691C>G | CA415314630 | OPN1MW | c.582C>G (p.Tyr194Ter) n.588+1469C>G c.169C>G | |
| X | g.154191691C>T | CA519334738 | OPN1MW | c.582C>T (p.Tyr194=) n.588+1469C>T c.169C>T | |
| X | g.154191692T>A | CA415314633 | OPN1MW | c.583T>A (p.Trp195Arg) n.588+1470T>A c.170T>A | |
| X | g.154191692T>C | CA415314632 | OPN1MW | c.583T>C (p.Trp195Arg) n.588+1470T>C c.170T>C | gnomAD v4 |
| X | g.154191692T>G | CA415314631 | OPN1MW | c.583T>G (p.Trp195Gly) n.588+1470T>G c.170T>G | |
| X | g.154191693G>A | CA415314634 | OPN1MW | c.584G>A (p.Trp195Ter) n.588+1471G>A c.171G>A | |
| X | g.154191693G>C | CA415314635 | OPN1MW | c.584G>C (p.Trp195Ser) n.588+1471G>C c.171G>C | |
| X | g.154191693G>T | CA415314636 | OPN1MW | c.584G>T (p.Trp195Leu) n.588+1471G>T c.171G>T | |
| X | g.154191694G>A | CA415314637 | OPN1MW | c.585G>A (p.Trp195Ter) n.588+1472G>A c.172G>A | |
| X | g.154191694G>C | CA415314638 | OPN1MW | c.585G>C (p.Trp195Cys) n.588+1472G>C c.172G>C | |
| X | g.154191694G>T | CA415314639 | OPN1MW | c.585G>T (p.Trp195Cys) n.588+1472G>T c.172G>T | |
| X | g.154191695C>A | CA415314640 | OPN1MW | c.586C>A (p.Pro196Thr) n.588+1473C>A c.173C>A | |
| X | g.154191695C>G | CA415314642 | OPN1MW | c.586C>G (p.Pro196Ala) n.588+1473C>G c.173C>G | |
| X | g.154191695C>T | CA415314641 | OPN1MW | c.586C>T (p.Pro196Ser) n.588+1473C>T c.173C>T | |
| X | g.154191696C>A | CA415314643 | OPN1MW | c.587C>A (p.Pro196His) n.588+1474C>A c.174C>A | |
| X | g.154191696C>G | CA415314644 | OPN1MW | c.587C>G (p.Pro196Arg) n.588+1474C>G c.174C>G | |
| X | g.154191696C>T | CA415314645 | OPN1MW | c.587C>T (p.Pro196Leu) n.588+1474C>T c.174C>T | |
| X | g.154191697C>A | CA519334756 | OPN1MW | c.588C>A (p.Pro196=) n.588+1475C>A c.175C>A | |
| X | g.154191697C>G | CA519334758 | OPN1MW | c.588C>G (p.Pro196=) n.588+1475C>G c.175C>G | |
| X | g.154191697C>T | CA519334760 | OPN1MW | c.588C>T (p.Pro196=) n.588+1475C>T c.175C>T | |
| X | g.154191698C>A | CA415314646 | OPN1MW | c.589C>A (p.His197Asn) n.588+1476C>A c.176C>A | |
| X | g.154191698C>G | CA415314647 | OPN1MW | c.589C>G (p.His197Asp) n.588+1476C>G c.176C>G | |
| X | g.154191698C>T | CA415314648 | OPN1MW | c.589C>T (p.His197Tyr) n.588+1476C>T c.176C>T | |
| X | g.154191699A>C | CA415314649 | OPN1MW | c.590A>C (p.His197Pro) n.588+1477A>C c.177A>C | |
| X | g.154191699A>G | CA415314650 | OPN1MW | c.590A>G (p.His197Arg) n.588+1477A>G c.177A>G | |
| X | g.154191699A>T | CA415314651 | OPN1MW | c.590A>T (p.His197Leu) n.588+1477A>T c.177A>T | |
| X | g.154191700C>A | CA415314652 | OPN1MW | c.591C>A (p.His197Gln) n.588+1478C>A c.178C>A | |
| X | g.154191700C>G | CA415314653 | OPN1MW | c.591C>G (p.His197Gln) n.588+1478C>G c.178C>G | |
| X | g.154191700C>T | CA519334770 | OPN1MW | c.591C>T (p.His197=) n.588+1478C>T c.178C>T | |
| X | g.154191701G>A | CA415314654 | OPN1MW | c.592G>A (p.Gly198Ser) n.588+1479G>A c.179G>A | gnomAD v4 |
| X | g.154191701G>C | CA415314656 | OPN1MW | c.592G>C (p.Gly198Arg) n.588+1479G>C c.179G>C | |
| X | g.154191701G>T | CA415314655 | OPN1MW | c.592G>T (p.Gly198Cys) n.588+1479G>T c.179G>T | |
| X | g.154191702G>A | CA415314657 | OPN1MW | c.593G>A (p.Gly198Asp) n.588+1480G>A c.180G>A | gnomAD v4 |
| X | g.154191702G>C | CA415314658 | OPN1MW | c.593G>C (p.Gly198Ala) n.588+1480G>C c.180G>C | |
| X | g.154191702G>T | CA415314659 | OPN1MW | c.593G>T (p.Gly198Val) n.588+1480G>T c.180G>T | |
| X | g.154191703C>A | CA519334778 | OPN1MW | c.594C>A (p.Gly198=) n.588+1481C>A c.181C>A | |
| X | g.154191703C= | CA2466617965 | OPN1MW | c.594C= (p.Gly198=) n.588+1481C= c.181C= | |
| X | g.154191703C>G | CA519334780 | OPN1MW | c.594C>G (p.Gly198=) n.588+1481C>G c.181C>G | |
| X | g.154191703C>T | CA519334782 | OPN1MW | c.594C>T (p.Gly198=) n.588+1481C>T c.181C>T | dbSNP gnomAD v4 |
| X | g.154191704C>A | CA415314660 | OPN1MW | c.595C>A (p.Leu199Met) n.588+1482C>A c.182C>A | |
| X | g.154191704C>G | CA415314661 | OPN1MW | c.595C>G (p.Leu199Val) n.588+1482C>G c.182C>G | |
| X | g.154191704C>T | CA519334786 | OPN1MW | c.595C>T (p.Leu199=) n.588+1482C>T c.182C>T | |
| X | g.154191705T>A | CA415314662 | OPN1MW | c.596T>A (p.Leu199Gln) n.588+1483T>A c.183T>A | |
| X | g.154191705T>C | CA415314663 | OPN1MW | c.596T>C (p.Leu199Pro) n.588+1483T>C c.183T>C | |
| X | g.154191705T>G | CA415314664 | OPN1MW | c.596T>G (p.Leu199Arg) n.588+1483T>G c.183T>G | |
| X | g.154191706G>A | CA519334791 | OPN1MW | c.597G>A (p.Leu199=) n.588+1484G>A c.184G>A | |
| X | g.154191706G>C | CA519334793 | OPN1MW | c.597G>C (p.Leu199=) n.588+1484G>C c.184G>C | |
| X | g.154191706G>T | CA519334795 | OPN1MW | c.597G>T (p.Leu199=) n.588+1484G>T c.184G>T | |
| X | g.154191707A>C | CA415314665 | OPN1MW | c.598A>C (p.Lys200Gln) n.588+1485A>C c.185A>C | |
| X | g.154191707A>G | CA415314666 | OPN1MW | c.598A>G (p.Lys200Glu) n.588+1485A>G c.185A>G | |
| X | g.154191707A>T | CA415314667 | OPN1MW | c.598A>T (p.Lys200Ter) n.588+1485A>T c.185A>T | |
| X | g.154191708A>C | CA415314670 | OPN1MW | c.599A>C (p.Lys200Thr) n.588+1486A>C c.186A>C | |
| X | g.154191708A>G | CA415314669 | OPN1MW | c.599A>G (p.Lys200Arg) n.588+1486A>G c.186A>G | |
| X | g.154191708A>T | CA415314668 | OPN1MW | c.599A>T (p.Lys200Met) n.588+1486A>T c.186A>T | |
| X | g.154191709G>A | CA519334803 | OPN1MW | c.600G>A (p.Lys200=) n.588+1487G>A c.187G>A | |
| X | g.154191709G>C | CA415314671 | OPN1MW | c.600G>C (p.Lys200Asn) n.588+1487G>C c.187G>C | |
| X | g.154191709G>T | CA415314672 | OPN1MW | c.600G>T (p.Lys200Asn) n.588+1487G>T c.187G>T | |
| X | g.154191710A>C | CA415314673 | OPN1MW | c.601A>C (p.Thr201Pro) n.588+1488A>C c.188A>C | |
| X | g.154191710A>G | CA415314674 | OPN1MW | c.601A>G (p.Thr201Ala) n.588+1488A>G c.188A>G | |
| X | g.154191710A>T | CA415314675 | OPN1MW | c.601A>T (p.Thr201Ser) n.588+1488A>T c.188A>T | |
| X | g.154191711C>A | CA415314676 | OPN1MW | c.602C>A (p.Thr201Asn) n.588+1489C>A c.189C>A | |
| X | g.154191711C>G | CA415314677 | OPN1MW | c.602C>G (p.Thr201Ser) n.588+1489C>G c.189C>G | |
| X | g.154191711C>T | CA415314678 | OPN1MW | c.602C>T (p.Thr201Ile) n.588+1489C>T c.189C>T | |
| X | g.154191712T>A | CA519334814 | OPN1MW | c.603T>A (p.Thr201=) n.588+1490T>A c.190T>A | |
| X | g.154191712T>C | CA519334816 | OPN1MW | c.603T>C (p.Thr201=) n.588+1490T>C c.190T>C | |
| X | g.154191712T>G | CA519334812 | OPN1MW | c.603T>G (p.Thr201=) n.588+1490T>G c.190T>G | |
| X | g.154191713T>A | CA415314679 | OPN1MW | c.604T>A (p.Ser202Thr) n.588+1491T>A c.191T>A | |
| X | g.154191713T>C | CA415314680 | OPN1MW | c.604T>C (p.Ser202Pro) n.588+1491T>C c.191T>C | |
| X | g.154191713T>G | CA415314681 | OPN1MW | c.604T>G (p.Ser202Ala) n.588+1491T>G c.191T>G | |
| X | g.154191714C>A | CA415314682 | OPN1MW | c.605C>A (p.Ser202Ter) n.588+1492C>A c.192C>A | |
| X | g.154191714C>G | CA415314684 | OPN1MW | c.605C>G (p.Ser202Ter) n.588+1492C>G c.192C>G | |
| X | g.154191714C>T | CA415314683 | OPN1MW | c.605C>T (p.Ser202Leu) n.588+1492C>T c.192C>T | |
| X | g.154191715A>C | CA519334828 | OPN1MW | c.606A>C (p.Ser202=) n.588+1493A>C c.193A>C | |
| X | g.154191715A>G | CA519334824 | OPN1MW | c.606A>G (p.Ser202=) n.588+1493A>G c.193A>G | |
| X | g.154191715A>T | CA519334826 | OPN1MW | c.606A>T (p.Ser202=) n.588+1493A>T c.193A>T | |
| X | g.154191716T>A | CA415314685 | OPN1MW | c.607T>A (p.Cys203Ser) n.588+1494T>A c.194T>A | |
| X | g.154191716T>C | CA121106 | OPN1MW | c.607T>C (p.Cys203Arg) n.588+1494T>C c.194T>C | ClinVar dbSNP gnomAD v4 |
| X | g.154191716T>G | CA415314686 | OPN1MW | c.607T>G (p.Cys203Gly) n.588+1494T>G c.194T>G | |
| X | g.154191716T= | CA2466617966 | OPN1MW | c.607T= (p.Cys203=) n.588+1494T= c.194T= | |
| X | g.154191717G>A | CA415314687 | OPN1MW | c.608G>A (p.Cys203Tyr) n.588+1495G>A c.195G>A | |
| X | g.154191717G>C | CA415314688 | OPN1MW | c.608G>C (p.Cys203Ser) n.588+1495G>C c.195G>C | |
| X | g.154191717G>T | CA415314689 | OPN1MW | c.608G>T (p.Cys203Phe) n.588+1495G>T c.195G>T | |
| X | g.154191718C>A | CA415314690 | OPN1MW | c.609C>A (p.Cys203Ter) n.588+1496C>A c.196C>A | |
| X | g.154191718C>G | CA415314691 | OPN1MW | c.609C>G (p.Cys203Trp) n.588+1496C>G c.196C>G | |
| X | g.154191718C>T | CA519334837 | OPN1MW | c.609C>T (p.Cys203=) n.588+1496C>T c.196C>T | gnomAD v4 |
| X | g.154191719G>A | CA415314692 | OPN1MW | c.610G>A (p.Gly204Ser) n.588+1497G>A c.197G>A | gnomAD v4 |
| X | g.154191719G>C | CA415314693 | OPN1MW | c.610G>C (p.Gly204Arg) n.588+1497G>C c.197G>C | |
| X | g.154191719G>T | CA415314694 | OPN1MW | c.610G>T (p.Gly204Cys) n.588+1497G>T c.197G>T | |
| X | g.154191720G>A | CA415314695 | OPN1MW | c.611G>A (p.Gly204Asp) n.588+1498G>A c.198G>A | |
| X | g.154191720G>C | CA415314696 | OPN1MW | c.611G>C (p.Gly204Ala) n.588+1498G>C c.198G>C | |
| X | g.154191720G>T | CA415314697 | OPN1MW | c.611G>T (p.Gly204Val) n.588+1498G>T c.198G>T | |
| X | g.154191721C>A | CA519334847 | OPN1MW | c.612C>A (p.Gly204=) n.588+1499C>A c.199C>A | gnomAD v4 |
| X | g.154191721C>G | CA519334848 | OPN1MW | c.612C>G (p.Gly204=) n.588+1499C>G c.199C>G | |
| X | g.154191721C>T | CA519334849 | OPN1MW | c.612C>T (p.Gly204=) n.588+1499C>T c.199C>T |