UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| X | g.154191722C>A | CA415314698 | OPN1MW | c.613C>A (p.Pro205Thr) n.588+1500C>A c.200C>A | |
| X | g.154191722C>G | CA415314700 | OPN1MW | c.613C>G (p.Pro205Ala) n.588+1500C>G c.200C>G | |
| X | g.154191722C>T | CA415314699 | OPN1MW | c.613C>T (p.Pro205Ser) n.588+1500C>T c.200C>T | |
| X | g.154191723C>A | CA415314701 | OPN1MW | c.614C>A (p.Pro205Gln) n.588+1501C>A c.201C>A | |
| X | g.154191723C>G | CA415314702 | OPN1MW | c.614C>G (p.Pro205Arg) n.588+1501C>G c.201C>G | |
| X | g.154191723C>T | CA415314703 | OPN1MW | c.614C>T (p.Pro205Leu) n.588+1501C>T c.201C>T | |
| X | g.154191724A>C | CA519334853 | OPN1MW | c.615A>C (p.Pro205=) n.588+1502A>C c.202A>C | |
| X | g.154191724A>G | CA519334855 | OPN1MW | c.615A>G (p.Pro205=) n.588+1502A>G c.202A>G | |
| X | g.154191724A>T | CA519334857 | OPN1MW | c.615A>T (p.Pro205=) n.588+1502A>T c.202A>T | |
| X | g.154191725G>A | CA415314704 | OPN1MW | c.616G>A (p.Asp206Asn) n.588+1503G>A c.203G>A | |
| X | g.154191725G>C | CA415314705 | OPN1MW | c.616G>C (p.Asp206His) n.588+1503G>C c.203G>C | |
| X | g.154191725G>T | CA415314706 | OPN1MW | c.616G>T (p.Asp206Tyr) n.588+1503G>T c.203G>T | |
| X | g.154191726A>C | CA415314707 | OPN1MW | c.617A>C (p.Asp206Ala) n.588+1504A>C c.204A>C | |
| X | g.154191726A>G | CA415314708 | OPN1MW | c.617A>G (p.Asp206Gly) n.588+1504A>G c.204A>G | |
| X | g.154191726A>T | CA415314709 | OPN1MW | c.617A>T (p.Asp206Val) n.588+1504A>T c.204A>T | |
| X | g.154191727C>A | CA415314711 | OPN1MW | c.618C>A (p.Asp206Glu) n.588+1505C>A c.205C>A | |
| X | g.154191727C= | CA2466617967 | OPN1MW | c.618C= (p.Asp206=) n.588+1505C= c.205C= | |
| X | g.154191727C>G | CA415314710 | OPN1MW | c.618C>G (p.Asp206Glu) n.588+1505C>G c.205C>G | |
| X | g.154191727C>T | CA519334867 | OPN1MW | c.618C>T (p.Asp206=) n.588+1505C>T c.205C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154191728G>A | CA415314712 | OPN1MW | c.619G>A (p.Val207Met) n.588+1506G>A c.206G>A | gnomAD v4 |
| X | g.154191728G>C | CA415314713 | OPN1MW | c.619G>C (p.Val207Leu) n.588+1506G>C c.206G>C | |
| X | g.154191728G>T | CA415314714 | OPN1MW | c.619G>T (p.Val207Leu) n.588+1506G>T c.206G>T | |
| X | g.154191729T>A | CA415314715 | OPN1MW | c.620T>A (p.Val207Glu) n.588+1507T>A c.207T>A | |
| X | g.154191729T>C | CA415314716 | OPN1MW | c.620T>C (p.Val207Ala) n.588+1507T>C c.207T>C | |
| X | g.154191729T>G | CA415314717 | OPN1MW | c.620T>G (p.Val207Gly) n.588+1507T>G c.207T>G | |
| X | g.154191730G>A | CA519334875 | OPN1MW | c.621G>A (p.Val207=) n.588+1508G>A c.208G>A | |
| X | g.154191730G>C | CA519334877 | OPN1MW | c.621G>C (p.Val207=) n.588+1508G>C c.208G>C | |
| X | g.154191730G>T | CA519334879 | OPN1MW | c.621G>T (p.Val207=) n.588+1508G>T c.208G>T | |
| X | g.154191731T>A | CA415314718 | OPN1MW | c.622T>A (p.Phe208Ile) n.588+1509T>A c.209T>A | |
| X | g.154191731T>C | CA415314719 | OPN1MW | c.622T>C (p.Phe208Leu) n.588+1509T>C c.209T>C | |
| X | g.154191731T>G | CA415314720 | OPN1MW | c.622T>G (p.Phe208Val) n.588+1509T>G c.209T>G | |
| X | g.154191732T>A | CA415314721 | OPN1MW | c.623T>A (p.Phe208Tyr) n.588+1510T>A c.210T>A | |
| X | g.154191732T>C | CA415314722 | OPN1MW | c.623T>C (p.Phe208Ser) n.588+1510T>C c.210T>C | |
| X | g.154191732T>G | CA415314723 | OPN1MW | c.623T>G (p.Phe208Cys) n.588+1510T>G c.210T>G | |
| X | g.154191733C>A | CA415314725 | OPN1MW | c.624C>A (p.Phe208Leu) n.588+1511C>A c.211C>A | |
| X | g.154191733C>G | CA415314724 | OPN1MW | c.624C>G (p.Phe208Leu) n.588+1511C>G c.211C>G | |
| X | g.154191733C>T | CA519334888 | OPN1MW | c.624C>T (p.Phe208=) n.588+1511C>T c.211C>T | |
| X | g.154191734A>C | CA415314726 | OPN1MW | c.625A>C (p.Ser209Arg) n.588+1512A>C c.212A>C | |
| X | g.154191734A>G | CA415314727 | OPN1MW | c.625A>G (p.Ser209Gly) n.588+1512A>G c.212A>G | |
| X | g.154191734A>T | CA415314728 | OPN1MW | c.625A>T (p.Ser209Cys) n.588+1512A>T c.212A>T | |
| X | g.154191735G>A | CA415314729 | OPN1MW | c.626G>A (p.Ser209Asn) n.588+1513G>A c.213G>A | |
| X | g.154191735G>C | CA415314730 | OPN1MW | c.626G>C (p.Ser209Thr) n.588+1513G>C c.213G>C | |
| X | g.154191735G>T | CA415314731 | OPN1MW | c.626G>T (p.Ser209Ile) n.588+1513G>T c.213G>T | |
| X | g.154191736C>A | CA415314732 | OPN1MW | c.627C>A (p.Ser209Arg) n.588+1514C>A c.214C>A | |
| X | g.154191736C>G | CA415314733 | OPN1MW | c.627C>G (p.Ser209Arg) n.588+1514C>G c.214C>G | |
| X | g.154191736C>T | CA519334897 | OPN1MW | c.627C>T (p.Ser209=) n.588+1514C>T c.214C>T | gnomAD v4 |
| X | g.154191737G>A | CA415314734 | OPN1MW | c.628G>A (p.Gly210Ser) n.588+1515G>A c.215G>A | gnomAD v4 |
| X | g.154191737G>C | CA415314735 | OPN1MW | c.628G>C (p.Gly210Arg) n.588+1515G>C c.215G>C | |
| X | g.154191737G>T | CA415314736 | OPN1MW | c.628G>T (p.Gly210Cys) n.588+1515G>T c.215G>T | |
| X | g.154191738G>A | CA415314739 | OPN1MW | c.629G>A (p.Gly210Asp) n.588+1516G>A c.216G>A | |
| X | g.154191738G>C | CA415314738 | OPN1MW | c.629G>C (p.Gly210Ala) n.588+1516G>C c.216G>C | |
| X | g.154191738G>T | CA415314737 | OPN1MW | c.629G>T (p.Gly210Val) n.588+1516G>T c.216G>T | |
| X | g.154191739C>A | CA519334907 | OPN1MW | c.630C>A (p.Gly210=) n.588+1517C>A c.217C>A | |
| X | g.154191739C>G | CA519334911 | OPN1MW | c.630C>G (p.Gly210=) n.588+1517C>G c.217C>G | |
| X | g.154191739C>T | CA519334909 | OPN1MW | c.630C>T (p.Gly210=) n.588+1517C>T c.217C>T | |
| X | g.154191740A= | CA2466617968 | OPN1MW | c.631A= (p.Ser211=) n.588+1518A= c.218A= | |
| X | g.154191740A>C | CA415314740 | OPN1MW | c.631A>C (p.Ser211Arg) n.588+1518A>C c.218A>C | |
| X | g.154191740A>G | CA415314741 | OPN1MW | c.631A>G (p.Ser211Gly) n.588+1518A>G c.218A>G | dbSNP gnomAD v4 |
| X | g.154191740A>T | CA415314742 | OPN1MW | c.631A>T (p.Ser211Cys) n.588+1518A>T c.218A>T | gnomAD v4 |
| X | g.154191741G>A | CA415314743 | OPN1MW | c.632G>A (p.Ser211Asn) n.588+1519G>A c.219G>A | |
| X | g.154191741G>C | CA415314744 | OPN1MW | c.632G>C (p.Ser211Thr) n.588+1519G>C c.219G>C | gnomAD v4 |
| X | g.154191741G>T | CA415314745 | OPN1MW | c.632G>T (p.Ser211Ile) n.588+1519G>T c.219G>T | |
| X | g.154191742C>A | CA415314747 | OPN1MW | c.633C>A (p.Ser211Arg) n.588+1520C>A c.220C>A | |
| X | g.154191742C>G | CA415314746 | OPN1MW | c.633C>G (p.Ser211Arg) n.588+1520C>G c.220C>G | |
| X | g.154191742C>T | CA519334920 | OPN1MW | c.633C>T (p.Ser211=) n.588+1520C>T c.220C>T | gnomAD v4 |
| X | g.154191743T>A | CA415314748 | OPN1MW | c.634T>A (p.Ser212Thr) n.588+1521T>A c.221T>A | |
| X | g.154191743T>C | CA415314749 | OPN1MW | c.634T>C (p.Ser212Pro) n.588+1521T>C c.221T>C | |
| X | g.154191743T>G | CA415314750 | OPN1MW | c.634T>G (p.Ser212Ala) n.588+1521T>G c.221T>G | |
| X | g.154191744C>A | CA415314751 | OPN1MW | c.635C>A (p.Ser212Ter) n.588+1522C>A c.222C>A | gnomAD v4 |
| X | g.154191744C>G | CA415314752 | OPN1MW | c.635C>G (p.Ser212Trp) n.588+1522C>G c.222C>G | |
| X | g.154191744C>T | CA415314753 | OPN1MW | c.635C>T (p.Ser212Leu) n.588+1522C>T c.222C>T | gnomAD v4 |
| X | g.154191745G>A | CA519334929 | OPN1MW | c.636G>A (p.Ser212=) n.588+1523G>A c.223G>A | gnomAD v4 |
| X | g.154191745G>C | CA519334930 | OPN1MW | c.636G>C (p.Ser212=) n.588+1523G>C c.223G>C | |
| X | g.154191745G>T | CA519334932 | OPN1MW | c.636G>T (p.Ser212=) n.588+1523G>T c.223G>T | |
| X | g.154191746T>A | CA415314754 | OPN1MW | c.637T>A (p.Tyr213Asn) n.588+1524T>A c.224T>A | |
| X | g.154191746T>C | CA415314756 | OPN1MW | c.637T>C (p.Tyr213His) n.588+1524T>C c.224T>C | |
| X | g.154191746T>G | CA415314755 | OPN1MW | c.637T>G (p.Tyr213Asp) n.588+1524T>G c.224T>G | |
| X | g.154191747A>C | CA415314757 | OPN1MW | c.638A>C (p.Tyr213Ser) n.588+1525A>C c.225A>C | |
| X | g.154191747A>G | CA415314758 | OPN1MW | c.638A>G (p.Tyr213Cys) n.588+1525A>G c.225A>G | |
| X | g.154191747A>T | CA415314759 | OPN1MW | c.638A>T (p.Tyr213Phe) n.588+1525A>T c.225A>T | |
| X | g.154191748C>A | CA415314760 | OPN1MW | c.639C>A (p.Tyr213Ter) n.588+1526C>A c.226C>A | |
| X | g.154191748C>G | CA415314761 | OPN1MW | c.639C>G (p.Tyr213Ter) n.588+1526C>G c.226C>G | |
| X | g.154191748C>T | CA519334942 | OPN1MW | c.639C>T (p.Tyr213=) n.588+1526C>T c.226C>T | gnomAD v4 |
| X | g.154191749C>A | CA415314762 | OPN1MW | c.640C>A (p.Pro214Thr) n.588+1527C>A c.227C>A | |
| X | g.154191749C>G | CA415314764 | OPN1MW | c.640C>G (p.Pro214Ala) n.588+1527C>G c.227C>G | |
| X | g.154191749C>T | CA415314765 | OPN1MW | c.640C>T (p.Pro214Ser) n.588+1527C>T c.227C>T | |
| X | g.154191750C>A | CA415314766 | OPN1MW | c.641C>A (p.Pro214His) n.588+1528C>A c.228C>A | |
| X | g.154191750C>G | CA415314767 | OPN1MW | c.641C>G (p.Pro214Arg) n.588+1528C>G c.228C>G | gnomAD v3 gnomAD v4 |
| X | g.154191750C>T | CA415314768 | OPN1MW | c.641C>T (p.Pro214Leu) n.588+1528C>T c.228C>T | |
| X | g.154191751C>A | CA519334950 | OPN1MW | c.642C>A (p.Pro214=) n.588+1529C>A c.229C>A | |
| X | g.154191751C>G | CA519334952 | OPN1MW | c.642C>G (p.Pro214=) n.588+1529C>G c.229C>G | |
| X | g.154191751C>T | CA519334953 | OPN1MW | c.642C>T (p.Pro214=) n.588+1529C>T c.229C>T | gnomAD v4 |
| X | g.154191752G>A | CA415314772 | OPN1MW | c.643G>A (p.Gly215Arg) n.588+1530G>A c.230G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154191752G>C | CA415314769 | OPN1MW | c.643G>C (p.Gly215Arg) n.588+1530G>C c.230G>C | |
| X | g.154191752G= | CA2466617969 | OPN1MW | c.643G= (p.Gly215=) n.588+1530G= c.230G= | |
| X | g.154191752G>T | CA415314771 | OPN1MW | c.643G>T (p.Gly215Trp) n.588+1530G>T c.230G>T | |
| X | g.154191753G>A | CA415314773 | OPN1MW | c.644G>A (p.Gly215Glu) n.588+1531G>A c.231G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154191753G>C | CA415314774 | OPN1MW | c.644G>C (p.Gly215Ala) n.588+1531G>C c.231G>C | |
| X | g.154191753G= | CA2466617970 | OPN1MW | c.644G= (p.Gly215=) n.588+1531G= c.231G= | |
| X | g.154191753G>T | CA415314775 | OPN1MW | c.644G>T (p.Gly215Val) n.588+1531G>T c.231G>T | |
| X | g.154191754G>A | CA519334962 | OPN1MW | c.645G>A (p.Gly215=) n.588+1532G>A c.232G>A | |
| X | g.154191754G>C | CA519334965 | OPN1MW | c.645G>C (p.Gly215=) n.588+1532G>C c.232G>C | |
| X | g.154191754G>T | CA519334964 | OPN1MW | c.645G>T (p.Gly215=) n.588+1532G>T c.232G>T | |
| X | g.154191755G>A | CA415314776 | OPN1MW | c.646G>A (p.Val216Met) n.588+1533G>A c.233G>A | |
| X | g.154191755G>C | CA415314777 | OPN1MW | c.646G>C (p.Val216Leu) n.588+1533G>C c.233G>C | |
| X | g.154191755G>T | CA415314778 | OPN1MW | c.646G>T (p.Val216Leu) n.588+1533G>T c.233G>T | gnomAD v3 gnomAD v4 |
| X | g.154191756T>A | CA415314779 | OPN1MW | c.647T>A (p.Val216Glu) n.588+1534T>A c.234T>A | |
| X | g.154191756T>C | CA415314780 | OPN1MW | c.647T>C (p.Val216Ala) n.588+1534T>C c.234T>C | |
| X | g.154191756T>G | CA415314781 | OPN1MW | c.647T>G (p.Val216Gly) n.588+1534T>G c.234T>G | |
| X | g.154191757G>A | CA519334977 | OPN1MW | c.648G>A (p.Val216=) n.588+1535G>A c.235G>A | |
| X | g.154191757G>C | CA519334976 | OPN1MW | c.648G>C (p.Val216=) n.588+1535G>C c.235G>C | |
| X | g.154191757G>T | CA519334974 | OPN1MW | c.648G>T (p.Val216=) n.588+1535G>T c.235G>T | |
| X | g.154191758C>A | CA415314782 | OPN1MW | c.649C>A (p.Gln217Lys) n.588+1536C>A c.236C>A | |
| X | g.154191758C>G | CA415314783 | OPN1MW | c.649C>G (p.Gln217Glu) n.588+1536C>G c.236C>G | |
| X | g.154191758C>T | CA415314784 | OPN1MW | c.649C>T (p.Gln217Ter) n.588+1536C>T c.236C>T | |
| X | g.154191759A>C | CA415314787 | OPN1MW | c.650A>C (p.Gln217Pro) n.588+1537A>C c.237A>C | |
| X | g.154191759A>G | CA415314785 | OPN1MW | c.650A>G (p.Gln217Arg) n.588+1537A>G c.237A>G | |
| X | g.154191759A>T | CA415314786 | OPN1MW | c.650A>T (p.Gln217Leu) n.588+1537A>T c.237A>T | |
| X | g.154191760G>A | CA519334985 | OPN1MW | c.651G>A (p.Gln217=) n.588+1538G>A c.238G>A | |
| X | g.154191760G>C | CA415314788 | OPN1MW | c.651G>C (p.Gln217His) n.588+1538G>C c.238G>C | |
| X | g.154191760G>T | CA415314789 | OPN1MW | c.651G>T (p.Gln217His) n.588+1538G>T c.238G>T | |
| X | g.154191761T>A | CA415314790 | OPN1MW | c.652T>A (p.Ser218Thr) n.588+1539T>A c.239T>A | |
| X | g.154191761T>C | CA415314791 | OPN1MW | c.652T>C (p.Ser218Pro) n.588+1539T>C c.239T>C | |
| X | g.154191761T>G | CA415314792 | OPN1MW | c.652T>G (p.Ser218Ala) n.588+1539T>G c.239T>G | |
| X | g.154191762C>A | CA415314793 | OPN1MW | c.653C>A (p.Ser218Tyr) n.588+1540C>A c.240C>A | |
| X | g.154191762C>G | CA415314794 | OPN1MW | c.653C>G (p.Ser218Cys) n.588+1540C>G c.240C>G | |
| X | g.154191762C>T | CA415314795 | OPN1MW | c.653C>T (p.Ser218Phe) n.588+1540C>T c.240C>T | |
| X | g.154191763T>A | CA519334995 | OPN1MW | c.654T>A (p.Ser218=) n.588+1541T>A c.241T>A | |
| X | g.154191763T>C | CA519334997 | OPN1MW | c.654T>C (p.Ser218=) n.588+1541T>C c.241T>C | |
| X | g.154191763T>G | CA519334999 | OPN1MW | c.654T>G (p.Ser218=) n.588+1541T>G c.241T>G | |
| X | g.154191764T>A | CA415314796 | OPN1MW | c.655T>A (p.Tyr219Asn) n.588+1542T>A c.242T>A | |
| X | g.154191764T>C | CA415314797 | OPN1MW | c.655T>C (p.Tyr219His) n.588+1542T>C c.242T>C | |
| X | g.154191764T>G | CA415314798 | OPN1MW | c.655T>G (p.Tyr219Asp) n.588+1542T>G c.242T>G | |
| X | g.154191765A>C | CA415314799 | OPN1MW | c.656A>C (p.Tyr219Ser) n.588+1543A>C c.243A>C | |
| X | g.154191765A>G | CA415314801 | OPN1MW | c.656A>G (p.Tyr219Cys) n.588+1543A>G c.243A>G | |
| X | g.154191765A>T | CA415314800 | OPN1MW | c.656A>T (p.Tyr219Phe) n.588+1543A>T c.243A>T | |
| X | g.154191766C>A | CA415314802 | OPN1MW | c.657C>A (p.Tyr219Ter) n.588+1544C>A c.244C>A | |
| X | g.154191766C>G | CA415314803 | OPN1MW | c.657C>G (p.Tyr219Ter) n.588+1544C>G c.244C>G | |
| X | g.154191766C>T | CA519335008 | OPN1MW | c.657C>T (p.Tyr219=) n.588+1544C>T c.244C>T | |
| X | g.154191767A>C | CA415314804 | OPN1MW | c.658A>C (p.Met220Leu) n.588+1545A>C c.245A>C | |
| X | g.154191767A>G | CA415314805 | OPN1MW | c.658A>G (p.Met220Val) n.588+1545A>G c.245A>G | |
| X | g.154191767A>T | CA415314806 | OPN1MW | c.658A>T (p.Met220Leu) n.588+1545A>T c.245A>T | |
| X | g.154191768T>A | CA415314809 | OPN1MW | c.659T>A (p.Met220Lys) n.588+1546T>A c.246T>A | |
| X | g.154191768T>C | CA415314808 | OPN1MW | c.659T>C (p.Met220Thr) n.588+1546T>C c.246T>C | |
| X | g.154191768T>G | CA415314807 | OPN1MW | c.659T>G (p.Met220Arg) n.588+1546T>G c.246T>G | |
| X | g.154191769G>A | CA415314810 | OPN1MW | c.660G>A (p.Met220Ile) n.588+1547G>A c.247G>A | |
| X | g.154191769G>C | CA415314811 | OPN1MW | c.660G>C (p.Met220Ile) n.588+1547G>C c.247G>C | |
| X | g.154191769G>T | CA415314812 | OPN1MW | c.660G>T (p.Met220Ile) n.588+1547G>T c.247G>T | |
| X | g.154191770A>C | CA415314813 | OPN1MW | c.661A>C (p.Ile221Leu) n.588+1548A>C c.248A>C | gnomAD v3 gnomAD v4 |
| X | g.154191770A>G | CA415314814 | OPN1MW | c.661A>G (p.Ile221Val) n.588+1548A>G c.248A>G | |
| X | g.154191770A>T | CA415314815 | OPN1MW | c.661A>T (p.Ile221Phe) n.588+1548A>T c.248A>T | |
| X | g.154191771T>A | CA415314816 | OPN1MW | c.662T>A (p.Ile221Asn) n.588+1549T>A c.249T>A | |
| X | g.154191771T>C | CA415314818 | OPN1MW | c.662T>C (p.Ile221Thr) n.588+1549T>C c.249T>C | |
| X | g.154191771T>G | CA415314817 | OPN1MW | c.662T>G (p.Ile221Ser) n.588+1549T>G c.249T>G | |
| X | g.154191772T>A | CA519335025 | OPN1MW | c.663T>A (p.Ile221=) n.588+1550T>A c.250T>A | gnomAD v4 |
| X | g.154191772T>C | CA519335027 | OPN1MW | c.663T>C (p.Ile221=) n.588+1550T>C c.250T>C | |
| X | g.154191772T>G | CA415314819 | OPN1MW | c.663T>G (p.Ile221Met) n.588+1550T>G c.250T>G | gnomAD v4 |
| X | g.154191773G>A | CA415314820 | OPN1MW | c.664G>A (p.Val222Ile) n.588+1551G>A c.251G>A | |
| X | g.154191773G>C | CA415314821 | OPN1MW | c.664G>C (p.Val222Leu) n.588+1551G>C c.251G>C | |
| X | g.154191773G>T | CA415314822 | OPN1MW | c.664G>T (p.Val222Phe) n.588+1551G>T c.251G>T | |
| X | g.154191774T>A | CA415314823 | OPN1MW | c.665T>A (p.Val222Asp) n.588+1552T>A c.252T>A | |
| X | g.154191774T>C | CA415314824 | OPN1MW | c.665T>C (p.Val222Ala) n.588+1552T>C c.252T>C | |
| X | g.154191774T>G | CA415314825 | OPN1MW | c.665T>G (p.Val222Gly) n.588+1552T>G c.252T>G | |
| X | g.154191775C>A | CA519335036 | OPN1MW | c.666C>A (p.Val222=) n.588+1553C>A c.253C>A | |
| X | g.154191775C>G | CA519335039 | OPN1MW | c.666C>G (p.Val222=) n.588+1553C>G c.253C>G | |
| X | g.154191775C>T | CA519335037 | OPN1MW | c.666C>T (p.Val222=) n.588+1553C>T c.253C>T | |
| X | g.154191776C>A | CA415314826 | OPN1MW | c.667C>A (p.Leu223Ile) n.588+1554C>A c.254C>A | |
| X | g.154191776C>G | CA415314827 | OPN1MW | c.667C>G (p.Leu223Val) n.588+1554C>G c.254C>G | |
| X | g.154191776C>T | CA415314828 | OPN1MW | c.667C>T (p.Leu223Phe) n.588+1554C>T c.254C>T | |
| X | g.154191777T>A | CA415314829 | OPN1MW | c.668T>A (p.Leu223His) n.588+1555T>A c.255T>A | |
| X | g.154191777T>C | CA415314831 | OPN1MW | c.668T>C (p.Leu223Pro) n.588+1555T>C c.255T>C | |
| X | g.154191777T>G | CA415314830 | OPN1MW | c.668T>G (p.Leu223Arg) n.588+1555T>G c.255T>G | |
| X | g.154191778C>A | CA519335047 | OPN1MW | c.669C>A (p.Leu223=) n.588+1556C>A c.256C>A | |
| X | g.154191778C>G | CA519335049 | OPN1MW | c.669C>G (p.Leu223=) n.588+1556C>G c.256C>G | |
| X | g.154191778C>T | CA519335050 | OPN1MW | c.669C>T (p.Leu223=) n.588+1556C>T c.256C>T | |
| X | g.154191779A>C | CA415314832 | OPN1MW | c.670A>C (p.Met224Leu) n.588+1557A>C c.257A>C | gnomAD v4 |
| X | g.154191779A>G | CA415314833 | OPN1MW | c.670A>G (p.Met224Val) n.588+1557A>G c.257A>G | gnomAD v4 |
| X | g.154191779A>T | CA415314834 | OPN1MW | c.670A>T (p.Met224Leu) n.588+1557A>T c.257A>T | |
| X | g.154191780T>A | CA415314835 | OPN1MW | c.671T>A (p.Met224Lys) n.588+1558T>A c.258T>A | |
| X | g.154191780T>C | CA415314836 | OPN1MW | c.671T>C (p.Met224Thr) n.588+1558T>C c.258T>C | |
| X | g.154191780T>G | CA415314837 | OPN1MW | c.671T>G (p.Met224Arg) n.588+1558T>G c.258T>G | |
| X | g.154191781G>A | CA415314838 | OPN1MW | c.672G>A (p.Met224Ile) n.588+1559G>A c.259G>A | |
| X | g.154191781G>C | CA415314839 | OPN1MW | c.672G>C (p.Met224Ile) n.588+1559G>C c.259G>C | |
| X | g.154191781G>T | CA415314840 | OPN1MW | c.672G>T (p.Met224Ile) n.588+1559G>T c.259G>T | |
| X | g.154191782G>A | CA415314841 | OPN1MW | c.673G>A (p.Val225Ile) n.588+1560G>A c.260G>A | gnomAD v4 |
| X | g.154191782G>C | CA415314842 | OPN1MW | c.673G>C (p.Val225Leu) n.588+1560G>C c.260G>C | |
| X | g.154191782G>T | CA415314843 | OPN1MW | c.673G>T (p.Val225Phe) n.588+1560G>T c.260G>T | |
| X | g.154191783T>A | CA415314844 | OPN1MW | c.674T>A (p.Val225Asp) n.588+1561T>A c.261T>A | |
| X | g.154191783T>C | CA415314846 | OPN1MW | c.674T>C (p.Val225Ala) n.588+1561T>C c.261T>C | |
| X | g.154191783T>G | CA415314845 | OPN1MW | c.674T>G (p.Val225Gly) n.588+1561T>G c.261T>G | |
| X | g.154191784C>A | CA519335068 | OPN1MW | c.675C>A (p.Val225=) n.588+1562C>A c.262C>A | |
| X | g.154191784C>G | CA519335070 | OPN1MW | c.675C>G (p.Val225=) n.588+1562C>G c.262C>G | gnomAD v4 |
| X | g.154191784C>T | CA519335071 | OPN1MW | c.675C>T (p.Val225=) n.588+1562C>T c.262C>T | |
| X | g.154191785A>C | CA415314847 | OPN1MW | c.676A>C (p.Thr226Pro) n.588+1563A>C c.263A>C | |
| X | g.154191785A>G | CA415314848 | OPN1MW | c.676A>G (p.Thr226Ala) n.588+1563A>G c.263A>G | |
| X | g.154191785A>T | CA415314849 | OPN1MW | c.676A>T (p.Thr226Ser) n.588+1563A>T c.263A>T | |
| X | g.154191786C>A | CA415314850 | OPN1MW | c.677C>A (p.Thr226Asn) n.588+1564C>A c.264C>A | |
| X | g.154191786C>G | CA415314851 | OPN1MW | c.677C>G (p.Thr226Ser) n.588+1564C>G c.264C>G | |
| X | g.154191786C>T | CA415314852 | OPN1MW | c.677C>T (p.Thr226Ile) n.588+1564C>T c.264C>T | |
| X | g.154191787C>A | CA519335080 | OPN1MW | c.678C>A (p.Thr226=) n.588+1565C>A c.265C>A | |
| X | g.154191787C>G | CA519335082 | OPN1MW | c.678C>G (p.Thr226=) n.588+1565C>G c.265C>G | |
| X | g.154191787C>T | CA519335083 | OPN1MW | c.678C>T (p.Thr226=) n.588+1565C>T c.265C>T | |
| X | g.154191788T>A | CA415314853 | OPN1MW | c.679T>A (p.Cys227Ser) n.588+1566T>A c.266T>A | |
| X | g.154191788T>C | CA415314854 | OPN1MW | c.679T>C (p.Cys227Arg) n.588+1566T>C c.266T>C | |
| X | g.154191788T>G | CA415314855 | OPN1MW | c.679T>G (p.Cys227Gly) n.588+1566T>G c.266T>G | gnomAD v4 |
| X | g.154191789G>A | CA415314858 | OPN1MW | c.680G>A (p.Cys227Tyr) n.588+1567G>A c.267G>A | |
| X | g.154191789G>C | CA415314857 | OPN1MW | c.680G>C (p.Cys227Ser) n.588+1567G>C c.267G>C | |
| X | g.154191789G>T | CA415314856 | OPN1MW | c.680G>T (p.Cys227Phe) n.588+1567G>T c.267G>T |