Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.149379010C>ACA452720272TAB2n.1510C>A
c.1095C>A (p.Pro365=)
c.243C>A (p.Pro81=)
c.999C>A (p.Pro333=)
6g.149379010C=CA1671915865TAB2n.1510C=
c.1095C= (p.Pro365=)
c.243C= (p.Pro81=)
c.999C= (p.Pro333=)
6g.149379010C>GCA452720273TAB2n.1510C>G
c.1095C>G (p.Pro365=)
c.243C>G (p.Pro81=)
c.999C>G (p.Pro333=)
6g.149379010C>TCA452720274TAB2n.1510C>T
c.1095C>T (p.Pro365=)
c.243C>T (p.Pro81=)
c.999C>T (p.Pro333=)
 dbSNP gnomAD v2 gnomAD v4
6g.149379011A>CCA365997951TAB2n.1511A>C
c.1096A>C (p.Thr366Pro)
c.244A>C (p.Thr82Pro)
c.1000A>C (p.Thr334Pro)
6g.149379011A>GCA365997952TAB2n.1511A>G
c.1096A>G (p.Thr366Ala)
c.244A>G (p.Thr82Ala)
c.1000A>G (p.Thr334Ala)
6g.149379011A>TCA365997953TAB2n.1511A>T
c.1096A>T (p.Thr366Ser)
c.244A>T (p.Thr82Ser)
c.1000A>T (p.Thr334Ser)
6g.149379012C>ACA365997954TAB2n.1512C>A
c.1097C>A (p.Thr366Asn)
c.245C>A (p.Thr82Asn)
c.1001C>A (p.Thr334Asn)
6g.149379012C=CA1671915870TAB2n.1512C=
c.1097C= (p.Thr366=)
c.245C= (p.Thr82=)
c.1001C= (p.Thr334=)
6g.149379012C>GCA365997955TAB2n.1512C>G
c.1097C>G (p.Thr366Ser)
c.245C>G (p.Thr82Ser)
c.1001C>G (p.Thr334Ser)
 gnomAD v4
6g.149379012C>TCA365997956TAB2n.1512C>T
c.1097C>T (p.Thr366Ile)
c.245C>T (p.Thr82Ile)
c.1001C>T (p.Thr334Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.149379013T>ACA452720275TAB2n.1513T>A
c.1098T>A (p.Thr366=)
c.246T>A (p.Thr82=)
c.1002T>A (p.Thr334=)
6g.149379013T>CCA452720276TAB2n.1513T>C
c.1098T>C (p.Thr366=)
c.246T>C (p.Thr82=)
c.1002T>C (p.Thr334=)
6g.149379013T>GCA452720277TAB2n.1513T>G
c.1098T>G (p.Thr366=)
c.246T>G (p.Thr82=)
c.1002T>G (p.Thr334=)
6g.149379014G>ACA365997957TAB2n.1514G>A
c.1099G>A (p.Val367Ile)
c.247G>A (p.Val83Ile)
c.1003G>A (p.Val335Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.149379014G>CCA365997958TAB2n.1514G>C
c.1099G>C (p.Val367Leu)
c.247G>C (p.Val83Leu)
c.1003G>C (p.Val335Leu)
6g.149379014G=CA1671915873TAB2n.1514G=
c.1099G= (p.Val367=)
c.247G= (p.Val83=)
c.1003G= (p.Val335=)
6g.149379014G>TCA365997959TAB2n.1514G>T
c.1099G>T (p.Val367Phe)
c.247G>T (p.Val83Phe)
c.1003G>T (p.Val335Phe)
6g.149379015T>ACA365997960TAB2n.1515T>A
c.1100T>A (p.Val367Asp)
c.248T>A (p.Val83Asp)
c.1004T>A (p.Val335Asp)
6g.149379015T>CCA365997962TAB2n.1515T>C
c.1100T>C (p.Val367Ala)
c.248T>C (p.Val83Ala)
c.1004T>C (p.Val335Ala)
6g.149379015T>GCA365997961TAB2n.1515T>G
c.1100T>G (p.Val367Gly)
c.248T>G (p.Val83Gly)
c.1004T>G (p.Val335Gly)
6g.149379016T>ACA452720278TAB2n.1516T>A
c.1101T>A (p.Val367=)
c.249T>A (p.Val83=)
c.1005T>A (p.Val335=)
6g.149379016T>CCA452720279TAB2n.1516T>C
c.1101T>C (p.Val367=)
c.249T>C (p.Val83=)
c.1005T>C (p.Val335=)
6g.149379016T>GCA452720280TAB2n.1516T>G
c.1101T>G (p.Val367=)
c.249T>G (p.Val83=)
c.1005T>G (p.Val335=)
6g.149379017T>ACA365997963TAB2n.1517T>A
c.1102T>A (p.Tyr368Asn)
c.250T>A (p.Tyr84Asn)
c.1006T>A (p.Tyr336Asn)
6g.149379017T>CCA365997965TAB2n.1517T>C
c.1102T>C (p.Tyr368His)
c.250T>C (p.Tyr84His)
c.1006T>C (p.Tyr336His)
 COSMIC
6g.149379017T>GCA365997964TAB2n.1517T>G
c.1102T>G (p.Tyr368Asp)
c.250T>G (p.Tyr84Asp)
c.1006T>G (p.Tyr336Asp)
6g.149379018A=CA1671915876TAB2n.1518A=
c.1103A= (p.Tyr368=)
c.251A= (p.Tyr84=)
c.1007A= (p.Tyr336=)
6g.149379018A>CCA365997966TAB2n.1518A>C
c.1103A>C (p.Tyr368Ser)
c.251A>C (p.Tyr84Ser)
c.1007A>C (p.Tyr336Ser)
6g.149379018A>GCA365997967TAB2n.1518A>G
c.1103A>G (p.Tyr368Cys)
c.251A>G (p.Tyr84Cys)
c.1007A>G (p.Tyr336Cys)
6g.149379018A>TCA4041485TAB2n.1518A>T
c.1103A>T (p.Tyr368Phe)
c.251A>T (p.Tyr84Phe)
c.1007A>T (p.Tyr336Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149379019C>ACA365997968TAB2n.1519C>A
c.1104C>A (p.Tyr368Ter)
c.252C>A (p.Tyr84Ter)
c.1008C>A (p.Tyr336Ter)
6g.149379019C>GCA365997969TAB2n.1519C>G
c.1104C>G (p.Tyr368Ter)
c.252C>G (p.Tyr84Ter)
c.1008C>G (p.Tyr336Ter)
 ClinVar dbSNP
6g.149379019C>TCA452720281TAB2n.1519C>T
c.1104C>T (p.Tyr368=)
c.252C>T (p.Tyr84=)
c.1008C>T (p.Tyr336=)
 gnomAD v4
6g.149379020A=CA1671915880TAB2n.1520A=
c.1105A= (p.Ile369=)
c.253A= (p.Ile85=)
c.1009A= (p.Ile337=)
6g.149379020A>CCA365997970TAB2n.1520A>C
c.1105A>C (p.Ile369Leu)
c.253A>C (p.Ile85Leu)
c.1009A>C (p.Ile337Leu)
6g.149379020A>GCA365997971TAB2n.1520A>G
c.1105A>G (p.Ile369Val)
c.253A>G (p.Ile85Val)
c.1009A>G (p.Ile337Val)
 dbSNP gnomAD v2 gnomAD v4
6g.149379020A>TCA365997972TAB2n.1520A>T
c.1105A>T (p.Ile369Leu)
c.253A>T (p.Ile85Leu)
c.1009A>T (p.Ile337Leu)
6g.149379020dupCA2580615792TAB2n.1520dup
c.1105dup (p.Ile369AsnfsTer10)
c.253dup (p.Ile85AsnfsTer10)
c.1009dup (p.Ile337AsnfsTer10)
 ClinVar
6g.149379021T>ACA365997973TAB2n.1521T>A
c.1106T>A (p.Ile369Lys)
c.254T>A (p.Ile85Lys)
c.1010T>A (p.Ile337Lys)
6g.149379021T>CCA365997974TAB2n.1521T>C
c.1106T>C (p.Ile369Thr)
c.254T>C (p.Ile85Thr)
c.1010T>C (p.Ile337Thr)
6g.149379021T>GCA365997975TAB2n.1521T>G
c.1106T>G (p.Ile369Arg)
c.254T>G (p.Ile85Arg)
c.1010T>G (p.Ile337Arg)
6g.149379022A>CCA452720314TAB2n.1522A>C
c.1107A>C (p.Ile369=)
c.255A>C (p.Ile85=)
c.1011A>C (p.Ile337=)
6g.149379022A>GCA365997976TAB2n.1522A>G
c.1107A>G (p.Ile369Met)
c.255A>G (p.Ile85Met)
c.1011A>G (p.Ile337Met)
6g.149379022A>TCA452720312TAB2n.1522A>T
c.1107A>T (p.Ile369=)
c.255A>T (p.Ile85=)
c.1011A>T (p.Ile337=)
6g.149379023G>ACA365997977TAB2n.1523G>A
c.1108G>A (p.Ala370Thr)
c.256G>A (p.Ala86Thr)
c.1012G>A (p.Ala338Thr)
6g.149379023G>CCA365997978TAB2n.1523G>C
c.1108G>C (p.Ala370Pro)
c.256G>C (p.Ala86Pro)
c.1012G>C (p.Ala338Pro)
6g.149379023G>TCA365997979TAB2n.1523G>T
c.1108G>T (p.Ala370Ser)
c.256G>T (p.Ala86Ser)
c.1012G>T (p.Ala338Ser)
6g.149379024C>ACA365997980TAB2n.1524C>A
c.1109C>A (p.Ala370Asp)
c.257C>A (p.Ala86Asp)
c.1013C>A (p.Ala338Asp)
6g.149379024C>GCA365997981TAB2n.1524C>G
c.1109C>G (p.Ala370Gly)
c.257C>G (p.Ala86Gly)
c.1013C>G (p.Ala338Gly)
6g.149379024C>TCA365997982TAB2n.1524C>T
c.1109C>T (p.Ala370Val)
c.257C>T (p.Ala86Val)
c.1013C>T (p.Ala338Val)
6g.149379025T>ACA452720321TAB2n.1525T>A
c.1110T>A (p.Ala370=)
c.258T>A (p.Ala86=)
c.1014T>A (p.Ala338=)
6g.149379025T>CCA452720322TAB2n.1525T>C
c.1110T>C (p.Ala370=)
c.258T>C (p.Ala86=)
c.1014T>C (p.Ala338=)
 dbSNP gnomAD v2 gnomAD v4
6g.149379025T>GCA452720323TAB2n.1525T>G
c.1110T>G (p.Ala370=)
c.258T>G (p.Ala86=)
c.1014T>G (p.Ala338=)
6g.149379025T=CA1671915882TAB2n.1525T=
c.1110T= (p.Ala370=)
c.258T= (p.Ala86=)
c.1014T= (p.Ala338=)
6g.149379026G>ACA365997983TAB2n.1526G>A
c.1111G>A (p.Ala371Thr)
c.259G>A (p.Ala87Thr)
c.1015G>A (p.Ala339Thr)
 dbSNP gnomAD v3 gnomAD v4
6g.149379026G>CCA365997985TAB2n.1526G>C
c.1111G>C (p.Ala371Pro)
c.259G>C (p.Ala87Pro)
c.1015G>C (p.Ala339Pro)
6g.149379026G=CA1671915886TAB2n.1526G=
c.1111G= (p.Ala371=)
c.259G= (p.Ala87=)
c.1015G= (p.Ala339=)
6g.149379026G>TCA365997984TAB2n.1526G>T
c.1111G>T (p.Ala371Ser)
c.259G>T (p.Ala87Ser)
c.1015G>T (p.Ala339Ser)
 gnomAD v4
6g.149379027C>ACA365997986TAB2n.1527C>A
c.1112C>A (p.Ala371Asp)
c.260C>A (p.Ala87Asp)
c.1016C>A (p.Ala339Asp)
6g.149379027C>GCA365997987TAB2n.1527C>G
c.1112C>G (p.Ala371Gly)
c.260C>G (p.Ala87Gly)
c.1016C>G (p.Ala339Gly)
6g.149379027C>TCA365997988TAB2n.1527C>T
c.1112C>T (p.Ala371Val)
c.260C>T (p.Ala87Val)
c.1016C>T (p.Ala339Val)
6g.149379028C>ACA452720329TAB2n.1528C>A
c.1113C>A (p.Ala371=)
c.261C>A (p.Ala87=)
c.1017C>A (p.Ala339=)
6g.149379028C>GCA452720330TAB2n.1528C>G
c.1113C>G (p.Ala371=)
c.261C>G (p.Ala87=)
c.1017C>G (p.Ala339=)
6g.149379028C>TCA452720331TAB2n.1528C>T
c.1113C>T (p.Ala371=)
c.261C>T (p.Ala87=)
c.1017C>T (p.Ala339=)
6g.149379029A>CCA365997989TAB2n.1529A>C
c.1114A>C (p.Ser372Arg)
c.262A>C (p.Ser88Arg)
c.1018A>C (p.Ser340Arg)
6g.149379029A>GCA365997990TAB2n.1529A>G
c.1114A>G (p.Ser372Gly)
c.262A>G (p.Ser88Gly)
c.1018A>G (p.Ser340Gly)
6g.149379029A>TCA365997991TAB2n.1529A>T
c.1114A>T (p.Ser372Cys)
c.262A>T (p.Ser88Cys)
c.1018A>T (p.Ser340Cys)
6g.149379030delCA2573140640TAB2n.1530del
c.1115del (p.Ser372ThrfsTer8)
c.263del (p.Ser88ThrfsTer8)
c.1019del (p.Ser340ThrfsTer8)
 dbSNP
6g.149379030G>ACA365997992TAB2n.1530G>A
c.1115G>A (p.Ser372Asn)
c.263G>A (p.Ser88Asn)
c.1019G>A (p.Ser340Asn)
 ClinVar gnomAD v4
6g.149379030G>CCA365997993TAB2n.1530G>C
c.1115G>C (p.Ser372Thr)
c.263G>C (p.Ser88Thr)
c.1019G>C (p.Ser340Thr)
 ClinVar
6g.149379030G>TCA365997994TAB2n.1530G>T
c.1115G>T (p.Ser372Ile)
c.263G>T (p.Ser88Ile)
c.1019G>T (p.Ser340Ile)
6g.149379031C>ACA365997995TAB2n.1531C>A
c.1116C>A (p.Ser372Arg)
c.264C>A (p.Ser88Arg)
c.1020C>A (p.Ser340Arg)
6g.149379031C>GCA365997996TAB2n.1531C>G
c.1116C>G (p.Ser372Arg)
c.264C>G (p.Ser88Arg)
c.1020C>G (p.Ser340Arg)
6g.149379031C>TCA452720339TAB2n.1531C>T
c.1116C>T (p.Ser372=)
c.264C>T (p.Ser88=)
c.1020C>T (p.Ser340=)
 COSMIC
6g.149379036dupCA2695207150TAB2n.1536dup
c.1121dup (p.Asn375LysfsTer4)
c.269dup (p.Asn91LysfsTer4)
c.1025dup (p.Asn343LysfsTer4)
6g.149379032C>ACA365997997TAB2n.1532C>A
c.1117C>A (p.Pro373Thr)
c.265C>A (p.Pro89Thr)
c.1021C>A (p.Pro341Thr)
6g.149379032C=CA1671915888TAB2n.1532C=
c.1117C= (p.Pro373=)
c.265C= (p.Pro89=)
c.1021C= (p.Pro341=)
6g.149379032C>GCA365997999TAB2n.1532C>G
c.1117C>G (p.Pro373Ala)
c.265C>G (p.Pro89Ala)
c.1021C>G (p.Pro341Ala)
6g.149379032C>TCA365997998TAB2n.1532C>T
c.1117C>T (p.Pro373Ser)
c.265C>T (p.Pro89Ser)
c.1021C>T (p.Pro341Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.149379033C>ACA365998000TAB2n.1533C>A
c.1118C>A (p.Pro373His)
c.266C>A (p.Pro89His)
c.1022C>A (p.Pro341His)
 dbSNP gnomAD v3 gnomAD v4
6g.149379033C=CA1671915892TAB2n.1533C=
c.1118C= (p.Pro373=)
c.266C= (p.Pro89=)
c.1022C= (p.Pro341=)
6g.149379033C>GCA365998001TAB2n.1533C>G
c.1118C>G (p.Pro373Arg)
c.266C>G (p.Pro89Arg)
c.1022C>G (p.Pro341Arg)
6g.149379033C>TCA365998002TAB2n.1533C>T
c.1118C>T (p.Pro373Leu)
c.266C>T (p.Pro89Leu)
c.1022C>T (p.Pro341Leu)
6g.149379034C>ACA4041486TAB2n.1534C>A
c.1119C>A (p.Pro373=)
c.267C>A (p.Pro89=)
c.1023C>A (p.Pro341=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149379034C=CA1671915897TAB2n.1534C=
c.1119C= (p.Pro373=)
c.267C= (p.Pro89=)
c.1023C= (p.Pro341=)
6g.149379034C>GCA452720345TAB2n.1534C>G
c.1119C>G (p.Pro373=)
c.267C>G (p.Pro89=)
c.1023C>G (p.Pro341=)
6g.149379034C>TCA452720346TAB2n.1534C>T
c.1119C>T (p.Pro373=)
c.267C>T (p.Pro89=)
c.1023C>T (p.Pro341=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.149379035C>ACA4041487TAB2n.1535C>A
c.1120C>A (p.Pro374Thr)
c.268C>A (p.Pro90Thr)
c.1024C>A (p.Pro342Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149379035C=CA1671915903TAB2n.1535C=
c.1120C= (p.Pro374=)
c.268C= (p.Pro90=)
c.1024C= (p.Pro342=)
6g.149379035C>GCA365998003TAB2n.1535C>G
c.1120C>G (p.Pro374Ala)
c.268C>G (p.Pro90Ala)
c.1024C>G (p.Pro342Ala)
 gnomAD v4
6g.149379035C>TCA365998004TAB2n.1535C>T
c.1120C>T (p.Pro374Ser)
c.268C>T (p.Pro90Ser)
c.1024C>T (p.Pro342Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.149379035_149379036insAAACACACCCAACACA2773512298TAB2n.1535_1536insAAACACACCCAACA
c.1120_1121insAAACACACCCAACA (p.Pro374GlnfsTer11)
c.268_269insAAACACACCCAACA (p.Pro90GlnfsTer11)
c.1024_1025insAAACACACCCAACA (p.Pro342GlnfsTer11)
6g.149379036C>ACA4041489TAB2n.1536C>A
c.1121C>A (p.Pro374Gln)
c.269C>A (p.Pro90Gln)
c.1025C>A (p.Pro342Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149379036C=CA1671915906TAB2n.1536C=
c.1121C= (p.Pro374=)
c.269C= (p.Pro90=)
c.1025C= (p.Pro342=)
6g.149379036C>GCA365998005TAB2n.1536C>G
c.1121C>G (p.Pro374Arg)
c.269C>G (p.Pro90Arg)
c.1025C>G (p.Pro342Arg)
6g.149379036C>TCA4041488TAB2n.1536C>T
c.1121C>T (p.Pro374Leu)
c.269C>T (p.Pro90Leu)
c.1025C>T (p.Pro342Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149379037A=CA1671915909TAB2n.1537A=
c.1122A= (p.Pro374=)
c.270A= (p.Pro90=)
c.1026A= (p.Pro342=)
6g.149379037A>CCA452720351TAB2n.1537A>C
c.1122A>C (p.Pro374=)
c.270A>C (p.Pro90=)
c.1026A>C (p.Pro342=)
6g.149379037A>GCA452720352TAB2n.1537A>G
c.1122A>G (p.Pro374=)
c.270A>G (p.Pro90=)
c.1026A>G (p.Pro342=)
 dbSNP gnomAD v4
6g.149379037A>TCA452720355TAB2n.1537A>T
c.1122A>T (p.Pro374=)
c.270A>T (p.Pro90=)
c.1026A>T (p.Pro342=)
6g.149379038A=CA1671915912TAB2n.1538A=
c.1123A= (p.Asn375=)
c.271A= (p.Asn91=)
c.1027A= (p.Asn343=)
6g.149379038A>CCA365998006TAB2n.1538A>C
c.1123A>C (p.Asn375His)
c.271A>C (p.Asn91His)
c.1027A>C (p.Asn343His)
6g.149379038A>GCA4041490TAB2n.1538A>G
c.1123A>G (p.Asn375Asp)
c.271A>G (p.Asn91Asp)
c.1027A>G (p.Asn343Asp)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
6g.149379038A>TCA365998007TAB2n.1538A>T
c.1123A>T (p.Asn375Tyr)
c.271A>T (p.Asn91Tyr)
c.1027A>T (p.Asn343Tyr)
6g.149379039A>CCA365998008TAB2n.1539A>C
c.1124A>C (p.Asn375Thr)
c.272A>C (p.Asn91Thr)
c.1028A>C (p.Asn343Thr)
6g.149379039A>GCA365998010TAB2n.1539A>G
c.1124A>G (p.Asn375Ser)
c.272A>G (p.Asn91Ser)
c.1028A>G (p.Asn343Ser)
6g.149379039A>TCA365998009TAB2n.1539A>T
c.1124A>T (p.Asn375Ile)
c.272A>T (p.Asn91Ile)
c.1028A>T (p.Asn343Ile)
6g.149379040T>ACA4041491TAB2n.1540T>A
c.1125T>A (p.Asn375Lys)
c.273T>A (p.Asn91Lys)
c.1029T>A (p.Asn343Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149379040T>CCA452720363TAB2n.1540T>C
c.1125T>C (p.Asn375=)
c.273T>C (p.Asn91=)
c.1029T>C (p.Asn343=)
6g.149379040T>GCA365998011TAB2n.1540T>G
c.1125T>G (p.Asn375Lys)
c.273T>G (p.Asn91Lys)
c.1029T>G (p.Asn343Lys)
6g.149379040T=CA1671915914TAB2n.1540T=
c.1125T= (p.Asn375=)
c.273T= (p.Asn91=)
c.1029T= (p.Asn343=)
6g.149379041A>CCA365998012TAB2n.1541A>C
c.1126A>C (p.Thr376Pro)
c.274A>C (p.Thr92Pro)
c.1030A>C (p.Thr344Pro)
6g.149379041A>GCA365998013TAB2n.1541A>G
c.1126A>G (p.Thr376Ala)
c.274A>G (p.Thr92Ala)
c.1030A>G (p.Thr344Ala)
6g.149379041A>TCA365998014TAB2n.1541A>T
c.1126A>T (p.Thr376Ser)
c.274A>T (p.Thr92Ser)
c.1030A>T (p.Thr344Ser)
6g.149379042C>ACA365998015TAB2n.1542C>A
c.1127C>A (p.Thr376Lys)
c.275C>A (p.Thr92Lys)
c.1031C>A (p.Thr344Lys)
6g.149379042C=CA1671915916TAB2n.1542C=
c.1127C= (p.Thr376=)
c.275C= (p.Thr92=)
c.1031C= (p.Thr344=)
6g.149379042C>GCA365998016TAB2n.1542C>G
c.1127C>G (p.Thr376Arg)
c.275C>G (p.Thr92Arg)
c.1031C>G (p.Thr344Arg)
6g.149379042C>TCA4041492TAB2n.1542C>T
c.1127C>T (p.Thr376Met)
c.275C>T (p.Thr92Met)
c.1031C>T (p.Thr344Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.149379043G>ACA4041493TAB2n.1543G>A
c.1128G>A (p.Thr376=)
c.276G>A (p.Thr92=)
c.1032G>A (p.Thr344=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149379043G>CCA452720375TAB2n.1543G>C
c.1128G>C (p.Thr376=)
c.276G>C (p.Thr92=)
c.1032G>C (p.Thr344=)
6g.149379043G=CA1671915923TAB2n.1543G=
c.1128G= (p.Thr376=)
c.276G= (p.Thr92=)
c.1032G= (p.Thr344=)
6g.149379043G>TCA452720373TAB2n.1543G>T
c.1128G>T (p.Thr376=)
c.276G>T (p.Thr92=)
c.1032G>T (p.Thr344=)
 dbSNP
6g.149379044G>ACA365998019TAB2n.1544G>A
c.1129G>A (p.Asp377Asn)
c.277G>A (p.Asp93Asn)
c.1033G>A (p.Asp345Asn)
 dbSNP
6g.149379044G>CCA365998018TAB2n.1544G>C
c.1129G>C (p.Asp377His)
c.277G>C (p.Asp93His)
c.1033G>C (p.Asp345His)
6g.149379044G=CA1671915925TAB2n.1544G=
c.1129G= (p.Asp377=)
c.277G= (p.Asp93=)
c.1033G= (p.Asp345=)
6g.149379044G>TCA365998017TAB2n.1544G>T
c.1129G>T (p.Asp377Tyr)
c.277G>T (p.Asp93Tyr)
c.1033G>T (p.Asp345Tyr)
6g.149379045A>CCA365998020TAB2n.1545A>C
c.1130A>C (p.Asp377Ala)
c.278A>C (p.Asp93Ala)
c.1034A>C (p.Asp345Ala)
6g.149379045A>GCA365998022TAB2n.1545A>G
c.1130A>G (p.Asp377Gly)
c.278A>G (p.Asp93Gly)
c.1034A>G (p.Asp345Gly)
6g.149379045A>TCA365998021TAB2n.1545A>T
c.1130A>T (p.Asp377Val)
c.278A>T (p.Asp93Val)
c.1034A>T (p.Asp345Val)
6g.149379046T>ACA365998023TAB2n.1546T>A
c.1131T>A (p.Asp377Glu)
c.279T>A (p.Asp93Glu)
c.1035T>A (p.Asp345Glu)
6g.149379046T>CCA4041494TAB2n.1546T>C
c.1131T>C (p.Asp377=)
c.279T>C (p.Asp93=)
c.1035T>C (p.Asp345=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149379046T>GCA365998024TAB2n.1546T>G
c.1131T>G (p.Asp377Glu)
c.279T>G (p.Asp93Glu)
c.1035T>G (p.Asp345Glu)
 gnomAD v4
6g.149379046T=CA1671915927TAB2n.1546T=
c.1131T= (p.Asp377=)
c.279T= (p.Asp93=)
c.1035T= (p.Asp345=)
6g.149379047G>ACA365998025TAB2n.1547G>A
c.1132G>A (p.Glu378Lys)
c.280G>A (p.Glu94Lys)
c.1036G>A (p.Glu346Lys)
6g.149379047G>CCA365998026TAB2n.1547G>C
c.1132G>C (p.Glu378Gln)
c.280G>C (p.Glu94Gln)
c.1036G>C (p.Glu346Gln)
6g.149379047G>TCA365998027TAB2n.1547G>T
c.1132G>T (p.Glu378Ter)
c.280G>T (p.Glu94Ter)
c.1036G>T (p.Glu346Ter)
6g.149379048A>CCA365998028TAB2n.1548A>C
c.1133A>C (p.Glu378Ala)
c.281A>C (p.Glu94Ala)
c.1037A>C (p.Glu346Ala)
6g.149379048A>GCA365998029TAB2n.1548A>G
c.1133A>G (p.Glu378Gly)
c.281A>G (p.Glu94Gly)
c.1037A>G (p.Glu346Gly)
6g.149379048A>TCA365998030TAB2n.1548A>T
c.1133A>T (p.Glu378Val)
c.281A>T (p.Glu94Val)
c.1037A>T (p.Glu346Val)
6g.149379049G>ACA452720391TAB2n.1549G>A
c.1134G>A (p.Glu378=)
c.282G>A (p.Glu94=)
c.1038G>A (p.Glu346=)
 gnomAD v4
6g.149379049G>CCA365998031TAB2n.1549G>C
c.1134G>C (p.Glu378Asp)
c.282G>C (p.Glu94Asp)
c.1038G>C (p.Glu346Asp)
6g.149379049G>TCA365998032TAB2n.1549G>T
c.1134G>T (p.Glu378Asp)
c.282G>T (p.Glu94Asp)
c.1038G>T (p.Glu346Asp)
6g.149379050C>ACA365998034TAB2n.1550C>A
c.1135C>A (p.Leu379Met)
c.283C>A (p.Leu95Met)
c.1039C>A (p.Leu347Met)
6g.149379050C=CA1671915929TAB2n.1550C=
c.1135C= (p.Leu379=)
c.283C= (p.Leu95=)
c.1039C= (p.Leu347=)
6g.149379050C>GCA365998033TAB2n.1550C>G
c.1135C>G (p.Leu379Val)
c.283C>G (p.Leu95Val)
c.1039C>G (p.Leu347Val)
6g.149379050C>TCA149917123TAB2n.1550C>T
c.1135C>T (p.Leu379=)
c.283C>T (p.Leu95=)
c.1039C>T (p.Leu347=)
 dbSNP
6g.149379051T>ACA365998035TAB2n.1551T>A
c.1136T>A (p.Leu379Gln)
c.284T>A (p.Leu95Gln)
c.1040T>A (p.Leu347Gln)
6g.149379051T>CCA365998036TAB2n.1551T>C
c.1136T>C (p.Leu379Pro)
c.284T>C (p.Leu95Pro)
c.1040T>C (p.Leu347Pro)
 dbSNP
6g.149379051T>GCA365998037TAB2n.1551T>G
c.1136T>G (p.Leu379Arg)
c.284T>G (p.Leu95Arg)
c.1040T>G (p.Leu347Arg)
6g.149379051T=CA1671915933TAB2n.1551T=
c.1136T= (p.Leu379=)
c.284T= (p.Leu95=)
c.1040T= (p.Leu347=)
6g.149379052G>ACA452720402TAB2n.1552G>A
c.1137G>A (p.Leu379=)
c.285G>A (p.Leu95=)
c.1041G>A (p.Leu347=)
6g.149379052G>CCA452720405TAB2n.1552G>C
c.1137G>C (p.Leu379=)
c.285G>C (p.Leu95=)
c.1041G>C (p.Leu347=)
 gnomAD v4
6g.149379052G=CA1671915937TAB2n.1552G=
c.1137G= (p.Leu379=)
c.285G= (p.Leu95=)
c.1041G= (p.Leu347=)
6g.149379052G>TCA452720407TAB2n.1552G>T
c.1137G>T (p.Leu379=)
c.285G>T (p.Leu95=)
c.1041G>T (p.Leu347=)
 dbSNP
6g.149379053A>CCA365998038TAB2n.1553A>C
c.1138A>C (p.Met380Leu)
c.286A>C (p.Met96Leu)
c.1042A>C (p.Met348Leu)
6g.149379053A>GCA365998039TAB2n.1553A>G
c.1138A>G (p.Met380Val)
c.286A>G (p.Met96Val)
c.1042A>G (p.Met348Val)
6g.149379053A>TCA365998040TAB2n.1553A>T
c.1138A>T (p.Met380Leu)
c.286A>T (p.Met96Leu)
c.1042A>T (p.Met348Leu)
6g.149379054T>ACA365998041TAB2n.1554T>A
c.1139T>A (p.Met380Lys)
c.287T>A (p.Met96Lys)
c.1043T>A (p.Met348Lys)
6g.149379054T>CCA365998042TAB2n.1554T>C
c.1139T>C (p.Met380Thr)
c.287T>C (p.Met96Thr)
c.1043T>C (p.Met348Thr)
6g.149379054T>GCA365998043TAB2n.1554T>G
c.1139T>G (p.Met380Arg)
c.287T>G (p.Met96Arg)
c.1043T>G (p.Met348Arg)
6g.149379055G>ACA365998044TAB2n.1555G>A
c.1140G>A (p.Met380Ile)
c.288G>A (p.Met96Ile)
c.1044G>A (p.Met348Ile)
6g.149379055G>CCA365998045TAB2n.1555G>C
c.1140G>C (p.Met380Ile)
c.288G>C (p.Met96Ile)
c.1044G>C (p.Met348Ile)
6g.149379055G>TCA365998046TAB2n.1555G>T
c.1140G>T (p.Met380Ile)
c.288G>T (p.Met96Ile)
c.1044G>T (p.Met348Ile)
6g.149379056T>ACA365998048TAB2n.1556T>A
c.1141T>A (p.Ser381Thr)
c.289T>A (p.Ser97Thr)
c.1045T>A (p.Ser349Thr)
6g.149379056T>CCA365998049TAB2n.1556T>C
c.1141T>C (p.Ser381Pro)
c.289T>C (p.Ser97Pro)
c.1045T>C (p.Ser349Pro)
6g.149379056T>GCA365998047TAB2n.1556T>G
c.1141T>G (p.Ser381Ala)
c.289T>G (p.Ser97Ala)
c.1045T>G (p.Ser349Ala)
6g.149379057C>ACA365998050TAB2n.1557C>A
c.1142C>A (p.Ser381Tyr)
c.290C>A (p.Ser97Tyr)
c.1046C>A (p.Ser349Tyr)
 dbSNP
6g.149379057C=CA1671915943TAB2n.1557C=
c.1142C= (p.Ser381=)
c.290C= (p.Ser97=)
c.1046C= (p.Ser349=)
6g.149379057C>GCA365998051TAB2n.1557C>G
c.1142C>G (p.Ser381Cys)
c.290C>G (p.Ser97Cys)
c.1046C>G (p.Ser349Cys)
6g.149379057C>TCA365998052TAB2n.1557C>T
c.1142C>T (p.Ser381Phe)
c.290C>T (p.Ser97Phe)
c.1046C>T (p.Ser349Phe)
6g.149379058C>ACA452720422TAB2n.1558C>A
c.1143C>A (p.Ser381=)
c.291C>A (p.Ser97=)
c.1047C>A (p.Ser349=)
6g.149379058C=CA1671915945TAB2n.1558C=
c.1143C= (p.Ser381=)
c.291C= (p.Ser97=)
c.1047C= (p.Ser349=)
6g.149379058C>GCA452720423TAB2n.1558C>G
c.1143C>G (p.Ser381=)
c.291C>G (p.Ser97=)
c.1047C>G (p.Ser349=)
6g.149379058C>TCA4041495TAB2n.1558C>T
c.1143C>T (p.Ser381=)
c.291C>T (p.Ser97=)
c.1047C>T (p.Ser349=)
 dbSNP ExAC gnomAD v4
6g.149379059C>ACA365998053TAB2n.1559C>A
c.1144C>A (p.Arg382Ser)
c.292C>A (p.Arg98Ser)
c.1048C>A (p.Arg350Ser)
6g.149379059C=CA1671915949TAB2n.1559C=
c.1144C= (p.Arg382=)
c.292C= (p.Arg98=)
c.1048C= (p.Arg350=)
6g.149379059C>GCA365998054TAB2n.1559C>G
c.1144C>G (p.Arg382Gly)
c.292C>G (p.Arg98Gly)
c.1048C>G (p.Arg350Gly)
6g.149379059C>TCA4041496TAB2n.1559C>T
c.1144C>T (p.Arg382Cys)
c.292C>T (p.Arg98Cys)
c.1048C>T (p.Arg350Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149379060G>ACA4041497TAB2n.1560G>A
c.1145G>A (p.Arg382His)
c.293G>A (p.Arg98His)
c.1049G>A (p.Arg350His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149379060G>CCA365998055TAB2n.1560G>C
c.1145G>C (p.Arg382Pro)
c.293G>C (p.Arg98Pro)
c.1049G>C (p.Arg350Pro)
6g.149379060G=CA1671915953TAB2n.1560G=
c.1145G= (p.Arg382=)
c.293G= (p.Arg98=)
c.1049G= (p.Arg350=)
6g.149379060G>TCA365998056TAB2n.1560G>T
c.1145G>T (p.Arg382Leu)
c.293G>T (p.Arg98Leu)
c.1049G>T (p.Arg350Leu)
6g.149379061T>ACA452720435TAB2n.1561T>A
c.1146T>A (p.Arg382=)
c.294T>A (p.Arg98=)
c.1050T>A (p.Arg350=)
6g.149379061T>CCA452720437TAB2n.1561T>C
c.1146T>C (p.Arg382=)
c.294T>C (p.Arg98=)
c.1050T>C (p.Arg350=)
 dbSNP gnomAD v2 gnomAD v4
6g.149379061T>GCA452720438TAB2n.1561T>G
c.1146T>G (p.Arg382=)
c.294T>G (p.Arg98=)
c.1050T>G (p.Arg350=)
6g.149379061T=CA1671915956TAB2n.1561T=
c.1146T= (p.Arg382=)
c.294T= (p.Arg98=)
c.1050T= (p.Arg350=)
6g.149379062A=CA1671915958TAB2n.1562A=
c.1147A= (p.Ser383=)
c.295A= (p.Ser99=)
c.1051A= (p.Ser351=)
6g.149379062A>CCA4041498TAB2n.1562A>C
c.1147A>C (p.Ser383Arg)
c.295A>C (p.Ser99Arg)
c.1051A>C (p.Ser351Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149379062A>GCA365998057TAB2n.1562A>G
c.1147A>G (p.Ser383Gly)
c.295A>G (p.Ser99Gly)
c.1051A>G (p.Ser351Gly)
6g.149379062A>TCA365998058TAB2n.1562A>T
c.1147A>T (p.Ser383Cys)
c.295A>T (p.Ser99Cys)
c.1051A>T (p.Ser351Cys)
6g.149379063G>ACA4041499TAB2n.1563G>A
c.1148G>A (p.Ser383Asn)
c.296G>A (p.Ser99Asn)
c.1052G>A (p.Ser351Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149379063G>CCA365998060TAB2n.1563G>C
c.1148G>C (p.Ser383Thr)
c.296G>C (p.Ser99Thr)
c.1052G>C (p.Ser351Thr)
6g.149379063G=CA1671915962TAB2n.1563G=
c.1148G= (p.Ser383=)
c.296G= (p.Ser99=)
c.1052G= (p.Ser351=)
6g.149379063G>TCA365998059TAB2n.1563G>T
c.1148G>T (p.Ser383Ile)
c.296G>T (p.Ser99Ile)
c.1052G>T (p.Ser351Ile)
6g.149379064T>ACA365998061TAB2n.1564T>A
c.1149T>A (p.Ser383Arg)
c.297T>A (p.Ser99Arg)
c.1053T>A (p.Ser351Arg)
6g.149379064T>CCA149917169TAB2n.1564T>C
c.1149T>C (p.Ser383=)
c.297T>C (p.Ser99=)
c.1053T>C (p.Ser351=)
 ClinVar dbSNP gnomAD v4
6g.149379064T>GCA365998062TAB2n.1564T>G
c.1149T>G (p.Ser383Arg)
c.297T>G (p.Ser99Arg)
c.1053T>G (p.Ser351Arg)
6g.149379064T=CA1671915965TAB2n.1564T=
c.1149T= (p.Ser383=)
c.297T= (p.Ser99=)
c.1053T= (p.Ser351=)
6g.149379065C>ACA365998063TAB2n.1565C>A
c.1150C>A (p.Gln384Lys)
c.298C>A (p.Gln100Lys)
c.1054C>A (p.Gln352Lys)
6g.149379065C>GCA365998064TAB2n.1565C>G
c.1150C>G (p.Gln384Glu)
c.298C>G (p.Gln100Glu)
c.1054C>G (p.Gln352Glu)
6g.149379065C>TCA365998065TAB2n.1565C>T
c.1150C>T (p.Gln384Ter)
c.298C>T (p.Gln100Ter)
c.1054C>T (p.Gln352Ter)
6g.149379066A>CCA365998066TAB2n.1566A>C
c.1151A>C (p.Gln384Pro)
c.299A>C (p.Gln100Pro)
c.1055A>C (p.Gln352Pro)
6g.149379066A>GCA365998067TAB2n.1566A>G
c.1151A>G (p.Gln384Arg)
c.299A>G (p.Gln100Arg)
c.1055A>G (p.Gln352Arg)
6g.149379066A>TCA365998068TAB2n.1566A>T
c.1151A>T (p.Gln384Leu)
c.299A>T (p.Gln100Leu)
c.1055A>T (p.Gln352Leu)
6g.149379067A=CA1671915970TAB2n.1567A=
c.1152A= (p.Gln384=)
c.300A= (p.Gln100=)
c.1056A= (p.Gln352=)
6g.149379067A>CCA365998069TAB2n.1567A>C
c.1152A>C (p.Gln384His)
c.300A>C (p.Gln100His)
c.1056A>C (p.Gln352His)
6g.149379067A>GCA4041500TAB2n.1567A>G
c.1152A>G (p.Gln384=)
c.300A>G (p.Gln100=)
c.1056A>G (p.Gln352=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149379067A>TCA365998070TAB2n.1567A>T
c.1152A>T (p.Gln384His)
c.300A>T (p.Gln100His)
c.1056A>T (p.Gln352His)
 dbSNP gnomAD v2 gnomAD v4
6g.149379068C>ACA365998072TAB2n.1568C>A
c.1153C>A (p.Pro385Thr)
c.301C>A (p.Pro101Thr)
c.1057C>A (p.Pro353Thr)
6g.149379068C=CA1671915975TAB2n.1568C=
c.1153C= (p.Pro385=)
c.301C= (p.Pro101=)
c.1057C= (p.Pro353=)
6g.149379068C>GCA365998071TAB2n.1568C>G
c.1153C>G (p.Pro385Ala)
c.301C>G (p.Pro101Ala)
c.1057C>G (p.Pro353Ala)
6g.149379068C>TCA4041501TAB2n.1568C>T
c.1153C>T (p.Pro385Ser)
c.301C>T (p.Pro101Ser)
c.1057C>T (p.Pro353Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149379069C>ACA365998073TAB2n.1569C>A
c.1154C>A (p.Pro385His)
c.302C>A (p.Pro101His)
c.1058C>A (p.Pro353His)
6g.149379069C=CA1671915980TAB2n.1569C=
c.1154C= (p.Pro385=)
c.302C= (p.Pro101=)
c.1058C= (p.Pro353=)
6g.149379069C>GCA365998074TAB2n.1569C>G
c.1154C>G (p.Pro385Arg)
c.302C>G (p.Pro101Arg)
c.1058C>G (p.Pro353Arg)
 gnomAD v4
6g.149379069C>TCA149917271TAB2n.1569C>T
c.1154C>T (p.Pro385Leu)
c.302C>T (p.Pro101Leu)
c.1058C>T (p.Pro353Leu)
 ClinVar dbSNP
6g.149379070T>ACA452720472TAB2n.1570T>A
c.1155T>A (p.Pro385=)
c.303T>A (p.Pro101=)
c.1059T>A (p.Pro353=)
6g.149379070T>CCA4041502TAB2n.1570T>C
c.1155T>C (p.Pro385=)
c.303T>C (p.Pro101=)
c.1059T>C (p.Pro353=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149379070T>GCA452720470TAB2n.1570T>G
c.1155T>G (p.Pro385=)
c.303T>G (p.Pro101=)
c.1059T>G (p.Pro353=)
6g.149379070T=CA1671915983TAB2n.1570T=
c.1155T= (p.Pro385=)
c.303T= (p.Pro101=)
c.1059T= (p.Pro353=)
6g.149379071A>CCA365998077TAB2n.1571A>C
c.1156A>C (p.Lys386Gln)
c.304A>C (p.Lys102Gln)
c.1060A>C (p.Lys354Gln)
6g.149379071A>GCA365998075TAB2n.1571A>G
c.1156A>G (p.Lys386Glu)
c.304A>G (p.Lys102Glu)
c.1060A>G (p.Lys354Glu)
 gnomAD v4
6g.149379071A>TCA365998076TAB2n.1571A>T
c.1156A>T (p.Lys386Ter)
c.304A>T (p.Lys102Ter)
c.1060A>T (p.Lys354Ter)
6g.149379072A>CCA365998078TAB2n.1572A>C
c.1157A>C (p.Lys386Thr)
c.305A>C (p.Lys102Thr)
c.1061A>C (p.Lys354Thr)
6g.149379072A>GCA365998079TAB2n.1572A>G
c.1157A>G (p.Lys386Arg)
c.305A>G (p.Lys102Arg)
c.1061A>G (p.Lys354Arg)
6g.149379072A>TCA365998080TAB2n.1572A>T
c.1157A>T (p.Lys386Met)
c.305A>T (p.Lys102Met)
c.1061A>T (p.Lys354Met)
6g.149379073G>ACA452720479TAB2n.1573G>A
c.1158G>A (p.Lys386=)
c.306G>A (p.Lys102=)
c.1062G>A (p.Lys354=)
6g.149379073G>CCA365998081TAB2n.1573G>C
c.1158G>C (p.Lys386Asn)
c.306G>C (p.Lys102Asn)
c.1062G>C (p.Lys354Asn)
6g.149379073G>TCA365998082TAB2n.1573G>T
c.1158G>T (p.Lys386Asn)
c.306G>T (p.Lys102Asn)
c.1062G>T (p.Lys354Asn)
6g.149379074G>ACA4041503TAB2n.1574G>A
c.1159G>A (p.Val387Ile)
c.307G>A (p.Val103Ile)
c.1063G>A (p.Val355Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149379074G>CCA365998083TAB2n.1574G>C
c.1159G>C (p.Val387Leu)
c.307G>C (p.Val103Leu)
c.1063G>C (p.Val355Leu)
6g.149379074G=CA1671915987TAB2n.1574G=
c.1159G= (p.Val387=)
c.307G= (p.Val103=)
c.1063G= (p.Val355=)
6g.149379074G>TCA365998084TAB2n.1574G>T
c.1159G>T (p.Val387Phe)
c.307G>T (p.Val103Phe)
c.1063G>T (p.Val355Phe)
6g.149379075T>ACA365998087TAB2n.1575T>A
c.1160T>A (p.Val387Asp)
c.308T>A (p.Val103Asp)
c.1064T>A (p.Val355Asp)
6g.149379075T>CCA365998086TAB2n.1575T>C
c.1160T>C (p.Val387Ala)
c.308T>C (p.Val103Ala)
c.1064T>C (p.Val355Ala)
6g.149379075T>GCA365998085TAB2n.1575T>G
c.1160T>G (p.Val387Gly)
c.308T>G (p.Val103Gly)
c.1064T>G (p.Val355Gly)
6g.149379076C>ACA452720486TAB2n.1576C>A
c.1161C>A (p.Val387=)
c.309C>A (p.Val103=)
c.1065C>A (p.Val355=)
 gnomAD v4
6g.149379076C>GCA452720489TAB2n.1576C>G
c.1161C>G (p.Val387=)
c.309C>G (p.Val103=)
c.1065C>G (p.Val355=)
6g.149379076C>TCA452720488TAB2n.1576C>T
c.1161C>T (p.Val387=)
c.309C>T (p.Val103=)
c.1065C>T (p.Val355=)
6g.149379077T>ACA365998088TAB2n.1577T>A
c.1162T>A (p.Tyr388Asn)
c.310T>A (p.Tyr104Asn)
c.1066T>A (p.Tyr356Asn)
6g.149379077T>CCA365998089TAB2n.1577T>C
c.1162T>C (p.Tyr388His)
c.310T>C (p.Tyr104His)
c.1066T>C (p.Tyr356His)
6g.149379077T>GCA365998090TAB2n.1577T>G
c.1162T>G (p.Tyr388Asp)
c.310T>G (p.Tyr104Asp)
c.1066T>G (p.Tyr356Asp)
6g.149379078A=CA1671915990TAB2n.1578A=
c.1163A= (p.Tyr388=)
c.311A= (p.Tyr104=)
c.1067A= (p.Tyr356=)
6g.149379078A>CCA365998091TAB2n.1578A>C
c.1163A>C (p.Tyr388Ser)
c.311A>C (p.Tyr104Ser)
c.1067A>C (p.Tyr356Ser)
 gnomAD v4
6g.149379078A>GCA4041504TAB2n.1578A>G
c.1163A>G (p.Tyr388Cys)
c.311A>G (p.Tyr104Cys)
c.1067A>G (p.Tyr356Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149379078A>TCA365998092TAB2n.1578A>T
c.1163A>T (p.Tyr388Phe)
c.311A>T (p.Tyr104Phe)
c.1067A>T (p.Tyr356Phe)
6g.149379079T>ACA365998093TAB2n.1579T>A
c.1164T>A (p.Tyr388Ter)
c.312T>A (p.Tyr104Ter)
c.1068T>A (p.Tyr356Ter)
6g.149379079T>CCA452720496TAB2n.1579T>C
c.1164T>C (p.Tyr388=)
c.312T>C (p.Tyr104=)
c.1068T>C (p.Tyr356=)
6g.149379079T>GCA365998094TAB2n.1579T>G
c.1164T>G (p.Tyr388Ter)
c.312T>G (p.Tyr104Ter)
c.1068T>G (p.Tyr356Ter)
6g.149379080A=CA1671915993TAB2n.1580A=
c.1165A= (p.Ile389=)
c.313A= (p.Ile105=)
c.1069A= (p.Ile357=)
6g.149379080A>CCA365998095TAB2n.1580A>C
c.1165A>C (p.Ile389Leu)
c.313A>C (p.Ile105Leu)
c.1069A>C (p.Ile357Leu)
 ClinVar dbSNP
6g.149379080A>GCA365998096TAB2n.1580A>G
c.1165A>G (p.Ile389Val)
c.313A>G (p.Ile105Val)
c.1069A>G (p.Ile357Val)
6g.149379080A>TCA365998097TAB2n.1580A>T
c.1165A>T (p.Ile389Phe)
c.313A>T (p.Ile105Phe)
c.1069A>T (p.Ile357Phe)
6g.149379081T>ACA365998099TAB2n.1581T>A
c.1166T>A (p.Ile389Asn)
c.314T>A (p.Ile105Asn)
c.1070T>A (p.Ile357Asn)
6g.149379081T>CCA365998100TAB2n.1581T>C
c.1166T>C (p.Ile389Thr)
c.314T>C (p.Ile105Thr)
c.1070T>C (p.Ile357Thr)
6g.149379081T>GCA365998098TAB2n.1581T>G
c.1166T>G (p.Ile389Ser)
c.314T>G (p.Ile105Ser)
c.1070T>G (p.Ile357Ser)
6g.149379083delCA2695207151TAB2n.1583del
c.1168del (p.Ser390GlnfsTer?)
c.316del (p.Ser106GlnfsTer?)
c.1072del (p.Ser358GlnfsTer?)
6g.149379082T>ACA452720504TAB2n.1582T>A
c.1167T>A (p.Ile389=)
c.315T>A (p.Ile105=)
c.1071T>A (p.Ile357=)
6g.149379082T>CCA452720505TAB2n.1582T>C
c.1167T>C (p.Ile389=)
c.315T>C (p.Ile105=)
c.1071T>C (p.Ile357=)
 dbSNP gnomAD v3 gnomAD v4
6g.149379082T>GCA365998101TAB2n.1582T>G
c.1167T>G (p.Ile389Met)
c.315T>G (p.Ile105Met)
c.1071T>G (p.Ile357Met)
6g.149379082T=CA1671915995TAB2n.1582T=
c.1167T= (p.Ile389=)
c.315T= (p.Ile105=)
c.1071T= (p.Ile357=)
6g.149379083T>ACA365998102TAB2n.1583T>A
c.1168T>A (p.Ser390Thr)
c.316T>A (p.Ser106Thr)
c.1072T>A (p.Ser358Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.149379083T>CCA365998103TAB2n.1583T>C
c.1168T>C (p.Ser390Pro)
c.316T>C (p.Ser106Pro)
c.1072T>C (p.Ser358Pro)
6g.149379083T>GCA365998104TAB2n.1583T>G
c.1168T>G (p.Ser390Ala)
c.316T>G (p.Ser106Ala)
c.1072T>G (p.Ser358Ala)
6g.149379083T=CA1671915998TAB2n.1583T=
c.1168T= (p.Ser390=)
c.316T= (p.Ser106=)
c.1072T= (p.Ser358=)
6g.149379084C>ACA365998105TAB2n.1584C>A
c.1169C>A (p.Ser390Ter)
c.317C>A (p.Ser106Ter)
c.1073C>A (p.Ser358Ter)
6g.149379084C=CA1671916001TAB2n.1584C=
c.1169C= (p.Ser390=)
c.317C= (p.Ser106=)
c.1073C= (p.Ser358=)
6g.149379084C>GCA365998106TAB2n.1584C>G
c.1169C>G (p.Ser390Ter)
c.317C>G (p.Ser106Ter)
c.1073C>G (p.Ser358Ter)
6g.149379084C>TCA149917327TAB2n.1584C>T
c.1169C>T (p.Ser390Leu)
c.317C>T (p.Ser106Leu)
c.1073C>T (p.Ser358Leu)
 dbSNP
6g.149379085A>CCA452720515TAB2n.1585A>C
c.1170A>C (p.Ser390=)
c.318A>C (p.Ser106=)
c.1074A>C (p.Ser358=)
6g.149379085A>GCA452720516TAB2n.1585A>G
c.1170A>G (p.Ser390=)
c.318A>G (p.Ser106=)
c.1074A>G (p.Ser358=)
6g.149379085A>TCA452720524TAB2n.1585A>T
c.1170A>T (p.Ser390=)
c.318A>T (p.Ser106=)
c.1074A>T (p.Ser358=)
 gnomAD v4
6g.149379086G>ACA365998107TAB2n.1586G>A
c.1171G>A (p.Ala391Thr)
c.319G>A (p.Ala107Thr)
c.1075G>A (p.Ala359Thr)
 gnomAD v4
6g.149379086G>CCA365998108TAB2n.1586G>C
c.1171G>C (p.Ala391Pro)
c.319G>C (p.Ala107Pro)
c.1075G>C (p.Ala359Pro)
 gnomAD v4
6g.149379086G>TCA365998109TAB2n.1586G>T
c.1171G>T (p.Ala391Ser)
c.319G>T (p.Ala107Ser)
c.1075G>T (p.Ala359Ser)
6g.149379087C>ACA365998110TAB2n.1587C>A
c.1172C>A (p.Ala391Glu)
c.320C>A (p.Ala107Glu)
c.1076C>A (p.Ala359Glu)
6g.149379087C=CA1671916002TAB2n.1587C=
c.1172C= (p.Ala391=)
c.320C= (p.Ala107=)
c.1076C= (p.Ala359=)
6g.149379087C>GCA365998111TAB2n.1587C>G
c.1172C>G (p.Ala391Gly)
c.320C>G (p.Ala107Gly)
c.1076C>G (p.Ala359Gly)
6g.149379087C>TCA365998112TAB2n.1587C>T
c.1172C>T (p.Ala391Val)
c.320C>T (p.Ala107Val)
c.1076C>T (p.Ala359Val)
 dbSNP gnomAD v3 gnomAD v4
6g.149379088G>ACA4041505TAB2n.1588G>A
c.1173G>A (p.Ala391=)
c.321G>A (p.Ala107=)
c.1077G>A (p.Ala359=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149379088G>CCA452720539TAB2n.1588G>C
c.1173G>C (p.Ala391=)
c.321G>C (p.Ala107=)
c.1077G>C (p.Ala359=)
6g.149379088G=CA1671916004TAB2n.1588G=
c.1173G= (p.Ala391=)
c.321G= (p.Ala107=)
c.1077G= (p.Ala359=)
6g.149379088G>TCA452720541TAB2n.1588G>T
c.1173G>T (p.Ala391=)
c.321G>T (p.Ala107=)
c.1077G>T (p.Ala359=)
 dbSNP
6g.149379089A=CA1671916006TAB2n.1589A=
c.1174A= (p.Asn392=)
c.322A= (p.Asn108=)
c.1078A= (p.Asn360=)
6g.149379089A>CCA365998113TAB2n.1589A>C
c.1174A>C (p.Asn392His)
c.322A>C (p.Asn108His)
c.1078A>C (p.Asn360His)
 dbSNP gnomAD v4
6g.149379089A>GCA365998114TAB2n.1589A>G
c.1174A>G (p.Asn392Asp)
c.322A>G (p.Asn108Asp)
c.1078A>G (p.Asn360Asp)
 ClinVar
6g.149379089A>TCA365998115TAB2n.1589A>T
c.1174A>T (p.Asn392Tyr)
c.322A>T (p.Asn108Tyr)
c.1078A>T (p.Asn360Tyr)
6g.149379090A>CCA365998116TAB2n.1590A>C
c.1175A>C (p.Asn392Thr)
c.323A>C (p.Asn108Thr)
c.1079A>C (p.Asn360Thr)
6g.149379090A>GCA365998117TAB2n.1590A>G
c.1175A>G (p.Asn392Ser)
c.323A>G (p.Asn108Ser)
c.1079A>G (p.Asn360Ser)
6g.149379090A>TCA365998118TAB2n.1590A>T
c.1175A>T (p.Asn392Ile)
c.323A>T (p.Asn108Ile)
c.1079A>T (p.Asn360Ile)
6g.149379091T>ACA365998119TAB2n.1591T>A
c.1176T>A (p.Asn392Lys)
c.324T>A (p.Asn108Lys)
c.1080T>A (p.Asn360Lys)
6g.149379091T>CCA452720555TAB2n.1591T>C
c.1176T>C (p.Asn392=)
c.324T>C (p.Asn108=)
c.1080T>C (p.Asn360=)
6g.149379091T>GCA365998120TAB2n.1591T>G
c.1176T>G (p.Asn392Lys)
c.324T>G (p.Asn108Lys)
c.1080T>G (p.Asn360Lys)
6g.149379092G>ACA365998121TAB2n.1592G>A
c.1177G>A (p.Ala393Thr)
c.325G>A (p.Ala109Thr)
c.1081G>A (p.Ala361Thr)
6g.149379092G>CCA4041506TAB2n.1592G>C
c.1177G>C (p.Ala393Pro)
c.325G>C (p.Ala109Pro)
c.1081G>C (p.Ala361Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149379092G=CA1671916008TAB2n.1592G=
c.1177G= (p.Ala393=)
c.325G= (p.Ala109=)
c.1081G= (p.Ala361=)
6g.149379092G>TCA365998122TAB2n.1592G>T
c.1177G>T (p.Ala393Ser)
c.325G>T (p.Ala109Ser)
c.1081G>T (p.Ala361Ser)
6g.149379093C>ACA365998123TAB2n.1593C>A
c.1178C>A (p.Ala393Asp)
c.326C>A (p.Ala109Asp)
c.1082C>A (p.Ala361Asp)
6g.149379093C=CA1671916010TAB2n.1593C=
c.1178C= (p.Ala393=)
c.326C= (p.Ala109=)
c.1082C= (p.Ala361=)
6g.149379093C>GCA365998124TAB2n.1593C>G
c.1178C>G (p.Ala393Gly)
c.326C>G (p.Ala109Gly)
c.1082C>G (p.Ala361Gly)
6g.149379093C>TCA365998125TAB2n.1593C>T
c.1178C>T (p.Ala393Val)
c.326C>T (p.Ala109Val)
c.1082C>T (p.Ala361Val)
 dbSNP gnomAD v3 gnomAD v4
6g.149379094T>ACA452720561TAB2n.1594T>A
c.1179T>A (p.Ala393=)
c.327T>A (p.Ala109=)
c.1083T>A (p.Ala361=)
6g.149379094T>CCA452720563TAB2n.1594T>C
c.1179T>C (p.Ala393=)
c.327T>C (p.Ala109=)
c.1083T>C (p.Ala361=)
 gnomAD v4
6g.149379094T>GCA452720564TAB2n.1594T>G
c.1179T>G (p.Ala393=)
c.327T>G (p.Ala109=)
c.1083T>G (p.Ala361=)
 gnomAD v4
6g.149379095G>ACA365998127TAB2n.1595G>A
c.1180G>A (p.Ala394Thr)
c.328G>A (p.Ala110Thr)
c.1084G>A (p.Ala362Thr)
6g.149379095G>CCA365998128TAB2n.1595G>C
c.1180G>C (p.Ala394Pro)
c.328G>C (p.Ala110Pro)
c.1084G>C (p.Ala362Pro)
6g.149379095G>TCA365998126TAB2n.1595G>T
c.1180G>T (p.Ala394Ser)
c.328G>T (p.Ala110Ser)
c.1084G>T (p.Ala362Ser)
6g.149379096C>ACA365998131TAB2n.1596C>A
c.1181C>A (p.Ala394Asp)
c.329C>A (p.Ala110Asp)
c.1085C>A (p.Ala362Asp)
6g.149379096C=CA1671916012TAB2n.1596C=
c.1181C= (p.Ala394=)
c.329C= (p.Ala110=)
c.1085C= (p.Ala362=)
6g.149379096C>GCA365998129TAB2n.1596C>G
c.1181C>G (p.Ala394Gly)
c.329C>G (p.Ala110Gly)
c.1085C>G (p.Ala362Gly)
 gnomAD v4
6g.149379096C>TCA365998130TAB2n.1596C>T
c.1181C>T (p.Ala394Val)
c.329C>T (p.Ala110Val)
c.1085C>T (p.Ala362Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.149379097C>ACA452720573TAB2n.1597C>A
c.1182C>A (p.Ala394=)
c.330C>A (p.Ala110=)
c.1086C>A (p.Ala362=)
6g.149379097C>GCA452720575TAB2n.1597C>G
c.1182C>G (p.Ala394=)
c.330C>G (p.Ala110=)
c.1086C>G (p.Ala362=)
6g.149379097C>TCA452720577TAB2n.1597C>T
c.1182C>T (p.Ala394=)
c.330C>T (p.Ala110=)
c.1086C>T (p.Ala362=)
6g.149379098A=CA1671916015TAB2n.1598A=
c.1183A= (p.Thr395=)
c.331A= (p.Thr111=)
c.1087A= (p.Thr363=)
6g.149379098A>CCA365998132TAB2n.1598A>C
c.1183A>C (p.Thr395Pro)
c.331A>C (p.Thr111Pro)
c.1087A>C (p.Thr363Pro)
6g.149379098A>GCA365998133TAB2n.1598A>G
c.1183A>G (p.Thr395Ala)
c.331A>G (p.Thr111Ala)
c.1087A>G (p.Thr363Ala)
 dbSNP gnomAD v3 gnomAD v4
6g.149379098A>TCA365998134TAB2n.1598A>T
c.1183A>T (p.Thr395Ser)
c.331A>T (p.Thr111Ser)
c.1087A>T (p.Thr363Ser)
6g.149379099C>ACA365998137TAB2n.1599C>A
c.1184C>A (p.Thr395Lys)
c.332C>A (p.Thr111Lys)
c.1088C>A (p.Thr363Lys)
6g.149379099C>GCA365998136TAB2n.1599C>G
c.1184C>G (p.Thr395Arg)
c.332C>G (p.Thr111Arg)
c.1088C>G (p.Thr363Arg)
6g.149379099C>TCA365998135TAB2n.1599C>T
c.1184C>T (p.Thr395Ile)
c.332C>T (p.Thr111Ile)
c.1088C>T (p.Thr363Ile)
 gnomAD v4
6g.149379100A=CA1671916017TAB2n.1600A=
c.1185A= (p.Thr395=)
c.333A= (p.Thr111=)
c.1089A= (p.Thr363=)
6g.149379100A>CCA452720588TAB2n.1600A>C
c.1185A>C (p.Thr395=)
c.333A>C (p.Thr111=)
c.1089A>C (p.Thr363=)
6g.149379100A>GCA452720593TAB2n.1600A>G
c.1185A>G (p.Thr395=)
c.333A>G (p.Thr111=)
c.1089A>G (p.Thr363=)
 dbSNP gnomAD v2
6g.149379100A>TCA452720594TAB2n.1600A>T
c.1185A>T (p.Thr395=)
c.333A>T (p.Thr111=)
c.1089A>T (p.Thr363=)
6g.149379101G>ACA4041507TAB2n.1601G>A
c.1186G>A (p.Gly396Arg)
c.334G>A (p.Gly112Arg)
c.1090G>A (p.Gly364Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149379101G>CCA365998138TAB2n.1601G>C
c.1186G>C (p.Gly396Arg)
c.334G>C (p.Gly112Arg)
c.1090G>C (p.Gly364Arg)
6g.149379101G=CA1671916020TAB2n.1601G=
c.1186G= (p.Gly396=)
c.334G= (p.Gly112=)
c.1090G= (p.Gly364=)
6g.149379101G>TCA365998139TAB2n.1601G>T
c.1186G>T (p.Gly396Ter)
c.334G>T (p.Gly112Ter)
c.1090G>T (p.Gly364Ter)
6g.149379102G>ACA365998140TAB2n.1602G>A
c.1187G>A (p.Gly396Glu)
c.335G>A (p.Gly112Glu)
c.1091G>A (p.Gly364Glu)
6g.149379102G>CCA365998141TAB2n.1602G>C
c.1187G>C (p.Gly396Ala)
c.335G>C (p.Gly112Ala)
c.1091G>C (p.Gly364Ala)
 COSMIC
6g.149379102G>TCA365998142TAB2n.1602G>T
c.1187G>T (p.Gly396Val)
c.335G>T (p.Gly112Val)
c.1091G>T (p.Gly364Val)
6g.149379103A>CCA452720602TAB2n.1603A>C
c.1188A>C (p.Gly396=)
c.336A>C (p.Gly112=)
c.1092A>C (p.Gly364=)
6g.149379103A>GCA452720605TAB2n.1603A>G
c.1188A>G (p.Gly396=)
c.336A>G (p.Gly112=)
c.1092A>G (p.Gly364=)
6g.149379103A>TCA452720608TAB2n.1603A>T
c.1188A>T (p.Gly396=)
c.336A>T (p.Gly112=)
c.1092A>T (p.Gly364=)
6g.149379104G>ACA365998143TAB2n.1604G>A
c.1189G>A (p.Asp397Asn)
c.337G>A (p.Asp113Asn)
c.1093G>A (p.Asp365Asn)
6g.149379104G>CCA365998145TAB2n.1604G>C
c.1189G>C (p.Asp397His)
c.337G>C (p.Asp113His)
c.1093G>C (p.Asp365His)
6g.149379104G>TCA365998144TAB2n.1604G>T
c.1189G>T (p.Asp397Tyr)
c.337G>T (p.Asp113Tyr)
c.1093G>T (p.Asp365Tyr)
6g.149379105A>CCA365998146TAB2n.1605A>C
c.1190A>C (p.Asp397Ala)
c.338A>C (p.Asp113Ala)
c.1094A>C (p.Asp365Ala)
6g.149379105A>GCA365998147TAB2n.1605A>G
c.1190A>G (p.Asp397Gly)
c.338A>G (p.Asp113Gly)
c.1094A>G (p.Asp365Gly)
6g.149379105A>TCA365998148TAB2n.1605A>T
c.1190A>T (p.Asp397Val)
c.338A>T (p.Asp113Val)
c.1094A>T (p.Asp365Val)
6g.149379106T>ACA365998149TAB2n.1606T>A
c.1191T>A (p.Asp397Glu)
c.339T>A (p.Asp113Glu)
c.1095T>A (p.Asp365Glu)
6g.149379106T>CCA452720624TAB2n.1606T>C
c.1191T>C (p.Asp397=)
c.339T>C (p.Asp113=)
c.1095T>C (p.Asp365=)
 gnomAD v4
6g.149379106T>GCA365998150TAB2n.1606T>G
c.1191T>G (p.Asp397Glu)
c.339T>G (p.Asp113Glu)
c.1095T>G (p.Asp365Glu)
6g.149379107G>ACA365998151TAB2n.1607G>A
c.1192G>A (p.Glu398Lys)
c.340G>A (p.Glu114Lys)
c.1096G>A (p.Glu366Lys)
 dbSNP gnomAD v4
6g.149379107G>CCA365998152TAB2n.1607G>C
c.1192G>C (p.Glu398Gln)
c.340G>C (p.Glu114Gln)
c.1096G>C (p.Glu366Gln)
6g.149379107G=CA1671916023TAB2n.1607G=
c.1192G= (p.Glu398=)
c.340G= (p.Glu114=)
c.1096G= (p.Glu366=)
6g.149379107G>TCA365998153TAB2n.1607G>T
c.1192G>T (p.Glu398Ter)
c.340G>T (p.Glu114Ter)
c.1096G>T (p.Glu366Ter)
6g.149379108A>CCA365998154TAB2n.1608A>C
c.1193A>C (p.Glu398Ala)
c.341A>C (p.Glu114Ala)
c.1097A>C (p.Glu366Ala)
6g.149379108A>GCA365998155TAB2n.1608A>G
c.1193A>G (p.Glu398Gly)
c.341A>G (p.Glu114Gly)
c.1097A>G (p.Glu366Gly)
6g.149379108A>TCA365998156TAB2n.1608A>T
c.1193A>T (p.Glu398Val)
c.341A>T (p.Glu114Val)
c.1097A>T (p.Glu366Val)
6g.149379109A>CCA365998158TAB2n.1609A>C
c.1194A>C (p.Glu398Asp)
c.342A>C (p.Glu114Asp)
c.1098A>C (p.Glu366Asp)
6g.149379109A>GCA452720637TAB2n.1609A>G
c.1194A>G (p.Glu398=)
c.342A>G (p.Glu114=)
c.1098A>G (p.Glu366=)
 gnomAD v4
6g.149379109A>TCA365998157TAB2n.1609A>T
c.1194A>T (p.Glu398Asp)
c.342A>T (p.Glu114Asp)
c.1098A>T (p.Glu366Asp)
6g.149379110C>ACA365998159TAB2n.1610C>A
c.1195C>A (p.Gln399Lys)
c.343C>A (p.Gln115Lys)
c.1099C>A (p.Gln367Lys)
6g.149379110C=CA1671916027TAB2n.1610C=
c.1195C= (p.Gln399=)
c.343C= (p.Gln115=)
c.1099C= (p.Gln367=)
6g.149379110C>GCA365998160TAB2n.1610C>G
c.1195C>G (p.Gln399Glu)
c.343C>G (p.Gln115Glu)
c.1099C>G (p.Gln367Glu)
6g.149379110C>TCA16042638TAB2n.1610C>T
c.1195C>T (p.Gln399Ter)
c.343C>T (p.Gln115Ter)
c.1099C>T (p.Gln367Ter)
 ClinVar dbSNP

Number of alleles fetched