Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214980511C>ACA350460751ABCA12c.4712G>T (p.Gly1571Val)
c.3758G>T (p.Gly1253Val)
n.5012G>T
c.4721G>T (p.Gly1574Val)
n.5210G>T
2g.214980511C>GCA350460752ABCA12c.4712G>C (p.Gly1571Ala)
c.3758G>C (p.Gly1253Ala)
n.5012G>C
c.4721G>C (p.Gly1574Ala)
n.5210G>C
2g.214980511C>TCA350460754ABCA12c.4712G>A (p.Gly1571Glu)
c.3758G>A (p.Gly1253Glu)
n.5012G>A
c.4721G>A (p.Gly1574Glu)
n.5210G>A
2g.214980512C>ACA350460757ABCA12c.4711G>T (p.Gly1571Trp)
c.3757G>T (p.Gly1253Trp)
n.5011G>T
c.4720G>T (p.Gly1574Trp)
n.5209G>T
2g.214980512C>GCA350460758ABCA12c.4711G>C (p.Gly1571Arg)
c.3757G>C (p.Gly1253Arg)
n.5011G>C
c.4720G>C (p.Gly1574Arg)
n.5209G>C
2g.214980512C>TCA350460760ABCA12c.4711G>A (p.Gly1571Arg)
c.3757G>A (p.Gly1253Arg)
n.5011G>A
c.4720G>A (p.Gly1574Arg)
n.5209G>A
2g.214980513A>CCA350460764ABCA12c.4710T>G (p.Asp1570Glu)
c.3756T>G (p.Asp1252Glu)
n.5010T>G
c.4719T>G (p.Asp1573Glu)
n.5208T>G
2g.214980513A>GCA431148651ABCA12c.4710T>C (p.Asp1570=)
c.3756T>C (p.Asp1252=)
n.5010T>C
c.4719T>C (p.Asp1573=)
n.5208T>C
 gnomAD v4
2g.214980513A>TCA350460762ABCA12c.4710T>A (p.Asp1570Glu)
c.3756T>A (p.Asp1252Glu)
n.5010T>A
c.4719T>A (p.Asp1573Glu)
n.5208T>A
2g.214980514T>ACA350460766ABCA12c.4709A>T (p.Asp1570Val)
c.3755A>T (p.Asp1252Val)
n.5009A>T
c.4718A>T (p.Asp1573Val)
n.5207A>T
2g.214980514T>CCA350460767ABCA12c.4709A>G (p.Asp1570Gly)
c.3755A>G (p.Asp1252Gly)
n.5009A>G
c.4718A>G (p.Asp1573Gly)
n.5207A>G
2g.214980514T>GCA350460769ABCA12c.4709A>C (p.Asp1570Ala)
c.3755A>C (p.Asp1252Ala)
n.5009A>C
c.4718A>C (p.Asp1573Ala)
n.5207A>C
2g.214980515C>ACA350460770ABCA12c.4708G>T (p.Asp1570Tyr)
c.3754G>T (p.Asp1252Tyr)
n.5008G>T
c.4717G>T (p.Asp1573Tyr)
n.5206G>T
 gnomAD v4
2g.214980515C=CA1327160980ABCA12c.4708G= (p.Asp1570=)
c.3754G= (p.Asp1252=)
n.5008G=
c.4717G= (p.Asp1573=)
n.5206G=
2g.214980515C>GCA350460772ABCA12c.4708G>C (p.Asp1570His)
c.3754G>C (p.Asp1252His)
n.5008G>C
c.4717G>C (p.Asp1573His)
n.5206G>C
2g.214980515C>TCA2091411ABCA12c.4708G>A (p.Asp1570Asn)
c.3754G>A (p.Asp1252Asn)
n.5008G>A
c.4717G>A (p.Asp1573Asn)
n.5206G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214980516G>ACA2091412ABCA12c.4707C>T (p.Gly1569=)
c.3753C>T (p.Gly1251=)
n.5007C>T
c.4716C>T (p.Gly1572=)
n.5205C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.214980516G>CCA431148659ABCA12c.4707C>G (p.Gly1569=)
c.3753C>G (p.Gly1251=)
n.5007C>G
c.4716C>G (p.Gly1572=)
n.5205C>G
2g.214980516G=CA1327160981ABCA12c.4707C= (p.Gly1569=)
c.3753C= (p.Gly1251=)
n.5007C=
c.4716C= (p.Gly1572=)
n.5205C=
2g.214980516G>TCA431148661ABCA12c.4707C>A (p.Gly1569=)
c.3753C>A (p.Gly1251=)
n.5007C>A
c.4716C>A (p.Gly1572=)
n.5205C>A
2g.214980517C>ACA350460779ABCA12c.4706G>T (p.Gly1569Val)
c.3752G>T (p.Gly1251Val)
n.5006G>T
c.4715G>T (p.Gly1572Val)
n.5204G>T
2g.214980517C>GCA350460777ABCA12c.4706G>C (p.Gly1569Ala)
c.3752G>C (p.Gly1251Ala)
n.5006G>C
c.4715G>C (p.Gly1572Ala)
n.5204G>C
2g.214980517C>TCA350460778ABCA12c.4706G>A (p.Gly1569Asp)
c.3752G>A (p.Gly1251Asp)
n.5006G>A
c.4715G>A (p.Gly1572Asp)
n.5204G>A
2g.214980518C>ACA350460782ABCA12c.4705G>T (p.Gly1569Cys)
c.3751G>T (p.Gly1251Cys)
n.5005G>T
c.4714G>T (p.Gly1572Cys)
n.5203G>T
2g.214980518C>GCA350460784ABCA12c.4705G>C (p.Gly1569Arg)
c.3751G>C (p.Gly1251Arg)
n.5005G>C
c.4714G>C (p.Gly1572Arg)
n.5203G>C
2g.214980518C>TCA350460785ABCA12c.4705G>A (p.Gly1569Ser)
c.3751G>A (p.Gly1251Ser)
n.5005G>A
c.4714G>A (p.Gly1572Ser)
n.5203G>A
2g.214980519A>CCA350460787ABCA12c.4704T>G (p.Phe1568Leu)
c.3750T>G (p.Phe1250Leu)
n.5004T>G
c.4713T>G (p.Phe1571Leu)
n.5202T>G
2g.214980519A>GCA431148673ABCA12c.4704T>C (p.Phe1568=)
c.3750T>C (p.Phe1250=)
n.5004T>C
c.4713T>C (p.Phe1571=)
n.5202T>C
2g.214980519A>TCA350460788ABCA12c.4704T>A (p.Phe1568Leu)
c.3750T>A (p.Phe1250Leu)
n.5004T>A
c.4713T>A (p.Phe1571Leu)
n.5202T>A
2g.214980521delCA2662978474ABCA12c.4704del (p.Phe1568LeufsTer17)
c.3750del (p.Phe1250LeufsTer17)
n.5004del
c.4713del (p.Phe1571LeufsTer17)
n.5202del
 gnomAD v4
2g.214980520A>CCA350460790ABCA12c.4703T>G (p.Phe1568Cys)
c.3749T>G (p.Phe1250Cys)
n.5003T>G
c.4712T>G (p.Phe1571Cys)
n.5201T>G
 gnomAD v4
2g.214980520A>GCA350460794ABCA12c.4703T>C (p.Phe1568Ser)
c.3749T>C (p.Phe1250Ser)
n.5003T>C
c.4712T>C (p.Phe1571Ser)
n.5201T>C
2g.214980520A>TCA350460792ABCA12c.4703T>A (p.Phe1568Tyr)
c.3749T>A (p.Phe1250Tyr)
n.5003T>A
c.4712T>A (p.Phe1571Tyr)
n.5201T>A
2g.214980521A>CCA350460795ABCA12c.4702T>G (p.Phe1568Val)
c.3748T>G (p.Phe1250Val)
n.5002T>G
c.4711T>G (p.Phe1571Val)
n.5200T>G
2g.214980521A>GCA350460796ABCA12c.4702T>C (p.Phe1568Leu)
c.3748T>C (p.Phe1250Leu)
n.5002T>C
c.4711T>C (p.Phe1571Leu)
n.5200T>C
 gnomAD v4
2g.214980521A>TCA350460798ABCA12c.4702T>A (p.Phe1568Ile)
c.3748T>A (p.Phe1250Ile)
n.5002T>A
c.4711T>A (p.Phe1571Ile)
n.5200T>A
2g.214980522G>ACA431148687ABCA12c.4701C>T (p.Ala1567=)
c.3747C>T (p.Ala1249=)
n.5001C>T
c.4710C>T (p.Ala1570=)
n.5199C>T
2g.214980522G>CCA431148683ABCA12c.4701C>G (p.Ala1567=)
c.3747C>G (p.Ala1249=)
n.5001C>G
c.4710C>G (p.Ala1570=)
n.5199C>G
2g.214980522G>TCA431148685ABCA12c.4701C>A (p.Ala1567=)
c.3747C>A (p.Ala1249=)
n.5001C>A
c.4710C>A (p.Ala1570=)
n.5199C>A
2g.214980523G>ACA350460800ABCA12c.4700C>T (p.Ala1567Val)
c.3746C>T (p.Ala1249Val)
n.5000C>T
c.4709C>T (p.Ala1570Val)
n.5198C>T
2g.214980523G>CCA350460801ABCA12c.4700C>G (p.Ala1567Gly)
c.3746C>G (p.Ala1249Gly)
n.5000C>G
c.4709C>G (p.Ala1570Gly)
n.5198C>G
 dbSNP gnomAD v3 gnomAD v4
2g.214980523G=CA1327160982ABCA12c.4700C= (p.Ala1567=)
c.3746C= (p.Ala1249=)
n.5000C=
c.4709C= (p.Ala1570=)
n.5198C=
2g.214980523G>TCA350460803ABCA12c.4700C>A (p.Ala1567Asp)
c.3746C>A (p.Ala1249Asp)
n.5000C>A
c.4709C>A (p.Ala1570Asp)
n.5198C>A
 gnomAD v4
2g.214980524C>ACA350460805ABCA12c.4699G>T (p.Ala1567Ser)
c.3745G>T (p.Ala1249Ser)
n.4999G>T
c.4708G>T (p.Ala1570Ser)
n.5197G>T
2g.214980524C>GCA350460807ABCA12c.4699G>C (p.Ala1567Pro)
c.3745G>C (p.Ala1249Pro)
n.4999G>C
c.4708G>C (p.Ala1570Pro)
n.5197G>C
2g.214980524C>TCA350460808ABCA12c.4699G>A (p.Ala1567Thr)
c.3745G>A (p.Ala1249Thr)
n.4999G>A
c.4708G>A (p.Ala1570Thr)
n.5197G>A
 gnomAD v4
2g.214980525T>ACA350460811ABCA12c.4698A>T (p.Glu1566Asp)
c.3744A>T (p.Glu1248Asp)
n.4998A>T
c.4707A>T (p.Glu1569Asp)
n.5196A>T
2g.214980525T>CCA431148693ABCA12c.4698A>G (p.Glu1566=)
c.3744A>G (p.Glu1248=)
n.4998A>G
c.4707A>G (p.Glu1569=)
n.5196A>G
 dbSNP gnomAD v3 gnomAD v4
2g.214980525T>GCA350460812ABCA12c.4698A>C (p.Glu1566Asp)
c.3744A>C (p.Glu1248Asp)
n.4998A>C
c.4707A>C (p.Glu1569Asp)
n.5196A>C
2g.214980525T=CA1327160983ABCA12c.4698A= (p.Glu1566=)
c.3744A= (p.Glu1248=)
n.4998A=
c.4707A= (p.Glu1569=)
n.5196A=
2g.214980526T>ACA350460815ABCA12c.4697A>T (p.Glu1566Val)
c.3743A>T (p.Glu1248Val)
n.4997A>T
c.4706A>T (p.Glu1569Val)
n.5195A>T
2g.214980526T>CCA64814840ABCA12c.4697A>G (p.Glu1566Gly)
c.3743A>G (p.Glu1248Gly)
n.4997A>G
c.4706A>G (p.Glu1569Gly)
n.5195A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.214980526T>GCA350460816ABCA12c.4697A>C (p.Glu1566Ala)
c.3743A>C (p.Glu1248Ala)
n.4997A>C
c.4706A>C (p.Glu1569Ala)
n.5195A>C
2g.214980526T=CA1327160984ABCA12c.4697A= (p.Glu1566=)
c.3743A= (p.Glu1248=)
n.4997A=
c.4706A= (p.Glu1569=)
n.5195A=
2g.214980527C>ACA350460820ABCA12c.4696G>T (p.Glu1566Ter)
c.3742G>T (p.Glu1248Ter)
n.4996G>T
c.4705G>T (p.Glu1569Ter)
n.5194G>T
2g.214980527C=CA1327160985ABCA12c.4696G= (p.Glu1566=)
c.3742G= (p.Glu1248=)
n.4996G=
c.4705G= (p.Glu1569=)
n.5194G=
2g.214980527C>GCA350460823ABCA12c.4696G>C (p.Glu1566Gln)
c.3742G>C (p.Glu1248Gln)
n.4996G>C
c.4705G>C (p.Glu1569Gln)
n.5194G>C
2g.214980527C>TCA64814843ABCA12c.4696G>A (p.Glu1566Lys)
c.3742G>A (p.Glu1248Lys)
n.4996G>A
c.4705G>A (p.Glu1569Lys)
n.5194G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214980528C>ACA350460825ABCA12c.4695G>T (p.Lys1565Asn)
c.3741G>T (p.Lys1247Asn)
n.4995G>T
c.4704G>T (p.Lys1568Asn)
n.5193G>T
 dbSNP gnomAD v2 gnomAD v4
2g.214980528C=CA1327160986ABCA12c.4695G= (p.Lys1565=)
c.3741G= (p.Lys1247=)
n.4995G=
c.4704G= (p.Lys1568=)
n.5193G=
2g.214980528C>GCA350460827ABCA12c.4695G>C (p.Lys1565Asn)
c.3741G>C (p.Lys1247Asn)
n.4995G>C
c.4704G>C (p.Lys1568Asn)
n.5193G>C
2g.214980528C>TCA431148702ABCA12c.4695G>A (p.Lys1565=)
c.3741G>A (p.Lys1247=)
n.4995G>A
c.4704G>A (p.Lys1568=)
n.5193G>A
 COSMIC COSMIC
2g.214980529T>ACA350460828ABCA12c.4694A>T (p.Lys1565Met)
c.3740A>T (p.Lys1247Met)
n.4994A>T
c.4703A>T (p.Lys1568Met)
n.5192A>T
2g.214980529T>CCA350460830ABCA12c.4694A>G (p.Lys1565Arg)
c.3740A>G (p.Lys1247Arg)
n.4994A>G
c.4703A>G (p.Lys1568Arg)
n.5192A>G
2g.214980529T>GCA350460832ABCA12c.4694A>C (p.Lys1565Thr)
c.3740A>C (p.Lys1247Thr)
n.4994A>C
c.4703A>C (p.Lys1568Thr)
n.5192A>C
2g.214980530T>ACA350460834ABCA12c.4693A>T (p.Lys1565Ter)
c.3739A>T (p.Lys1247Ter)
n.4993A>T
c.4702A>T (p.Lys1568Ter)
n.5191A>T
2g.214980530T>CCA350460836ABCA12c.4693A>G (p.Lys1565Glu)
c.3739A>G (p.Lys1247Glu)
n.4993A>G
c.4702A>G (p.Lys1568Glu)
n.5191A>G
2g.214980530T>GCA350460838ABCA12c.4693A>C (p.Lys1565Gln)
c.3739A>C (p.Lys1247Gln)
n.4993A>C
c.4702A>C (p.Lys1568Gln)
n.5191A>C
2g.214980531G>ACA2091413ABCA12c.4692C>T (p.Leu1564=)
c.3738C>T (p.Leu1246=)
n.4992C>T
c.4701C>T (p.Leu1567=)
n.5190C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980531G>CCA431148709ABCA12c.4692C>G (p.Leu1564=)
c.3738C>G (p.Leu1246=)
n.4992C>G
c.4701C>G (p.Leu1567=)
n.5190C>G
 gnomAD v4
2g.214980531G=CA1327160987ABCA12c.4692C= (p.Leu1564=)
c.3738C= (p.Leu1246=)
n.4992C=
c.4701C= (p.Leu1567=)
n.5190C=
2g.214980531G>TCA2091414ABCA12c.4692C>A (p.Leu1564=)
c.3738C>A (p.Leu1246=)
n.4992C>A
c.4701C>A (p.Leu1567=)
n.5190C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980532A>CCA350460840ABCA12c.4691T>G (p.Leu1564Arg)
c.3737T>G (p.Leu1246Arg)
n.4991T>G
c.4700T>G (p.Leu1567Arg)
n.5189T>G
2g.214980532A>GCA350460841ABCA12c.4691T>C (p.Leu1564Pro)
c.3737T>C (p.Leu1246Pro)
n.4991T>C
c.4700T>C (p.Leu1567Pro)
n.5189T>C
2g.214980532A>TCA350460842ABCA12c.4691T>A (p.Leu1564His)
c.3737T>A (p.Leu1246His)
n.4991T>A
c.4700T>A (p.Leu1567His)
n.5189T>A
2g.214980533G>ACA350460848ABCA12c.4690C>T (p.Leu1564Phe)
c.3736C>T (p.Leu1246Phe)
n.4990C>T
c.4699C>T (p.Leu1567Phe)
n.5188C>T
2g.214980533G>CCA350460846ABCA12c.4690C>G (p.Leu1564Val)
c.3736C>G (p.Leu1246Val)
n.4990C>G
c.4699C>G (p.Leu1567Val)
n.5188C>G
2g.214980533G>TCA350460844ABCA12c.4690C>A (p.Leu1564Ile)
c.3736C>A (p.Leu1246Ile)
n.4990C>A
c.4699C>A (p.Leu1567Ile)
n.5188C>A
2g.214980534G>ACA2091415ABCA12c.4689C>T (p.Tyr1563=)
c.3735C>T (p.Tyr1245=)
n.4989C>T
c.4698C>T (p.Tyr1566=)
n.5187C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.214980534G>CCA350460851ABCA12c.4689C>G (p.Tyr1563Ter)
c.3735C>G (p.Tyr1245Ter)
n.4989C>G
c.4698C>G (p.Tyr1566Ter)
n.5187C>G
2g.214980534G=CA1327160988ABCA12c.4689C= (p.Tyr1563=)
c.3735C= (p.Tyr1245=)
n.4989C=
c.4698C= (p.Tyr1566=)
n.5187C=
2g.214980534G>TCA350460853ABCA12c.4689C>A (p.Tyr1563Ter)
c.3735C>A (p.Tyr1245Ter)
n.4989C>A
c.4698C>A (p.Tyr1566Ter)
n.5187C>A
2g.214980535T>ACA350460855ABCA12c.4688A>T (p.Tyr1563Phe)
c.3734A>T (p.Tyr1245Phe)
n.4988A>T
c.4697A>T (p.Tyr1566Phe)
n.5186A>T
2g.214980535T>CCA2091416ABCA12c.4688A>G (p.Tyr1563Cys)
c.3734A>G (p.Tyr1245Cys)
n.4988A>G
c.4697A>G (p.Tyr1566Cys)
n.5186A>G
 dbSNP ExAC gnomAD v2
2g.214980535T>GCA350460858ABCA12c.4688A>C (p.Tyr1563Ser)
c.3734A>C (p.Tyr1245Ser)
n.4988A>C
c.4697A>C (p.Tyr1566Ser)
n.5186A>C
2g.214980535T=CA1327160989ABCA12c.4688A= (p.Tyr1563=)
c.3734A= (p.Tyr1245=)
n.4988A=
c.4697A= (p.Tyr1566=)
n.5186A=
2g.214980536A>CCA350460860ABCA12c.4687T>G (p.Tyr1563Asp)
c.3733T>G (p.Tyr1245Asp)
n.4987T>G
c.4696T>G (p.Tyr1566Asp)
n.5185T>G
2g.214980536A>GCA350460862ABCA12c.4687T>C (p.Tyr1563His)
c.3733T>C (p.Tyr1245His)
n.4987T>C
c.4696T>C (p.Tyr1566His)
n.5185T>C
 gnomAD v4
2g.214980536A>TCA350460864ABCA12c.4687T>A (p.Tyr1563Asn)
c.3733T>A (p.Tyr1245Asn)
n.4987T>A
c.4696T>A (p.Tyr1566Asn)
n.5185T>A
2g.214980537A>CCA350460866ABCA12c.4686T>G (p.Phe1562Leu)
c.3732T>G (p.Phe1244Leu)
n.4986T>G
c.4695T>G (p.Phe1565Leu)
n.5184T>G
2g.214980537A>GCA431148727ABCA12c.4686T>C (p.Phe1562=)
c.3732T>C (p.Phe1244=)
n.4986T>C
c.4695T>C (p.Phe1565=)
n.5184T>C
2g.214980537A>TCA350460868ABCA12c.4686T>A (p.Phe1562Leu)
c.3732T>A (p.Phe1244Leu)
n.4986T>A
c.4695T>A (p.Phe1565Leu)
n.5184T>A
2g.214980538A>CCA350460874ABCA12c.4685T>G (p.Phe1562Cys)
c.3731T>G (p.Phe1244Cys)
n.4985T>G
c.4694T>G (p.Phe1565Cys)
n.5183T>G
 gnomAD v4
2g.214980538A>GCA350460872ABCA12c.4685T>C (p.Phe1562Ser)
c.3731T>C (p.Phe1244Ser)
n.4985T>C
c.4694T>C (p.Phe1565Ser)
n.5183T>C
2g.214980538A>TCA350460870ABCA12c.4685T>A (p.Phe1562Tyr)
c.3731T>A (p.Phe1244Tyr)
n.4985T>A
c.4694T>A (p.Phe1565Tyr)
n.5183T>A
2g.214980539A>CCA350460876ABCA12c.4684T>G (p.Phe1562Val)
c.3730T>G (p.Phe1244Val)
n.4984T>G
c.4693T>G (p.Phe1565Val)
n.5182T>G
2g.214980539A>GCA350460878ABCA12c.4684T>C (p.Phe1562Leu)
c.3730T>C (p.Phe1244Leu)
n.4984T>C
c.4693T>C (p.Phe1565Leu)
n.5182T>C
2g.214980539A>TCA350460880ABCA12c.4684T>A (p.Phe1562Ile)
c.3730T>A (p.Phe1244Ile)
n.4984T>A
c.4693T>A (p.Phe1565Ile)
n.5182T>A
2g.214980540T>ACA431148732ABCA12c.4683A>T (p.Pro1561=)
c.3729A>T (p.Pro1243=)
n.4983A>T
c.4692A>T (p.Pro1564=)
n.5181A>T
 dbSNP gnomAD v2 gnomAD v4
2g.214980540T>CCA431148734ABCA12c.4683A>G (p.Pro1561=)
c.3729A>G (p.Pro1243=)
n.4983A>G
c.4692A>G (p.Pro1564=)
n.5181A>G
2g.214980540T>GCA431148735ABCA12c.4683A>C (p.Pro1561=)
c.3729A>C (p.Pro1243=)
n.4983A>C
c.4692A>C (p.Pro1564=)
n.5181A>C
2g.214980540T=CA1327160990ABCA12c.4683A= (p.Pro1561=)
c.3729A= (p.Pro1243=)
n.4983A=
c.4692A= (p.Pro1564=)
n.5181A=
2g.214980541G>ACA350460881ABCA12c.4682C>T (p.Pro1561Leu)
c.3728C>T (p.Pro1243Leu)
n.4982C>T
c.4691C>T (p.Pro1564Leu)
n.5180C>T
2g.214980541G>CCA350460883ABCA12c.4682C>G (p.Pro1561Arg)
c.3728C>G (p.Pro1243Arg)
n.4982C>G
c.4691C>G (p.Pro1564Arg)
n.5180C>G
 gnomAD v4
2g.214980541G>TCA350460885ABCA12c.4682C>A (p.Pro1561Gln)
c.3728C>A (p.Pro1243Gln)
n.4982C>A
c.4691C>A (p.Pro1564Gln)
n.5180C>A
2g.214980542G>ACA350460886ABCA12c.4681C>T (p.Pro1561Ser)
c.3727C>T (p.Pro1243Ser)
n.4981C>T
c.4690C>T (p.Pro1564Ser)
n.5179C>T
2g.214980542G>CCA350460888ABCA12c.4681C>G (p.Pro1561Ala)
c.3727C>G (p.Pro1243Ala)
n.4981C>G
c.4690C>G (p.Pro1564Ala)
n.5179C>G
2g.214980542G>TCA350460890ABCA12c.4681C>A (p.Pro1561Thr)
c.3727C>A (p.Pro1243Thr)
n.4981C>A
c.4690C>A (p.Pro1564Thr)
n.5179C>A
2g.214980543G>ACA431148742ABCA12c.4680C>T (p.Ser1560=)
c.3726C>T (p.Ser1242=)
n.4980C>T
c.4689C>T (p.Ser1563=)
n.5178C>T
2g.214980543G>CCA431148744ABCA12c.4680C>G (p.Ser1560=)
c.3726C>G (p.Ser1242=)
n.4980C>G
c.4689C>G (p.Ser1563=)
n.5178C>G
2g.214980543G>TCA431148746ABCA12c.4680C>A (p.Ser1560=)
c.3726C>A (p.Ser1242=)
n.4980C>A
c.4689C>A (p.Ser1563=)
n.5178C>A
2g.214980544G>ACA350460893ABCA12c.4679C>T (p.Ser1560Phe)
c.3725C>T (p.Ser1242Phe)
n.4979C>T
c.4688C>T (p.Ser1563Phe)
n.5177C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214980544G>CCA350460895ABCA12c.4679C>G (p.Ser1560Cys)
c.3725C>G (p.Ser1242Cys)
n.4979C>G
c.4688C>G (p.Ser1563Cys)
n.5177C>G
2g.214980544G=CA1327160991ABCA12c.4679C= (p.Ser1560=)
c.3725C= (p.Ser1242=)
n.4979C=
c.4688C= (p.Ser1563=)
n.5177C=
2g.214980544G>TCA350460897ABCA12c.4679C>A (p.Ser1560Tyr)
c.3725C>A (p.Ser1242Tyr)
n.4979C>A
c.4688C>A (p.Ser1563Tyr)
n.5177C>A
 gnomAD v4
2g.214980545A>CCA350460902ABCA12c.4678T>G (p.Ser1560Ala)
c.3724T>G (p.Ser1242Ala)
n.4978T>G
c.4687T>G (p.Ser1563Ala)
n.5176T>G
2g.214980545A>GCA350460899ABCA12c.4678T>C (p.Ser1560Pro)
c.3724T>C (p.Ser1242Pro)
n.4978T>C
c.4687T>C (p.Ser1563Pro)
n.5176T>C
2g.214980545A>TCA350460900ABCA12c.4678T>A (p.Ser1560Thr)
c.3724T>A (p.Ser1242Thr)
n.4978T>A
c.4687T>A (p.Ser1563Thr)
n.5176T>A
2g.214980546C>ACA431148751ABCA12c.4677G>T (p.Gly1559=)
c.3723G>T (p.Gly1241=)
n.4977G>T
c.4686G>T (p.Gly1562=)
n.5175G>T
 dbSNP gnomAD v2 gnomAD v4
2g.214980546C=CA1327160992ABCA12c.4677G= (p.Gly1559=)
c.3723G= (p.Gly1241=)
n.4977G=
c.4686G= (p.Gly1562=)
n.5175G=
2g.214980546C>GCA431148752ABCA12c.4677G>C (p.Gly1559=)
c.3723G>C (p.Gly1241=)
n.4977G>C
c.4686G>C (p.Gly1562=)
n.5175G>C
2g.214980546C>TCA2091417ABCA12c.4677G>A (p.Gly1559=)
c.3723G>A (p.Gly1241=)
n.4977G>A
c.4686G>A (p.Gly1562=)
n.5175G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980547C>ACA350460905ABCA12c.4676G>T (p.Gly1559Val)
c.3722G>T (p.Gly1241Val)
n.4976G>T
c.4685G>T (p.Gly1562Val)
n.5174G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.214980547C=CA1327160993ABCA12c.4676G= (p.Gly1559=)
c.3722G= (p.Gly1241=)
n.4976G=
c.4685G= (p.Gly1562=)
n.5174G=
2g.214980547C>GCA350460907ABCA12c.4676G>C (p.Gly1559Ala)
c.3722G>C (p.Gly1241Ala)
n.4976G>C
c.4685G>C (p.Gly1562Ala)
n.5174G>C
2g.214980547C>TCA350460909ABCA12c.4676G>A (p.Gly1559Glu)
c.3722G>A (p.Gly1241Glu)
n.4976G>A
c.4685G>A (p.Gly1562Glu)
n.5174G>A
 gnomAD v4
2g.214980548C>ACA350460911ABCA12c.4675G>T (p.Gly1559Trp)
c.3721G>T (p.Gly1241Trp)
n.4975G>T
c.4684G>T (p.Gly1562Trp)
n.5173G>T
2g.214980548C>GCA350460913ABCA12c.4675G>C (p.Gly1559Arg)
c.3721G>C (p.Gly1241Arg)
n.4975G>C
c.4684G>C (p.Gly1562Arg)
n.5173G>C
2g.214980548C>TCA350460915ABCA12c.4675G>A (p.Gly1559Arg)
c.3721G>A (p.Gly1241Arg)
n.4975G>A
c.4684G>A (p.Gly1562Arg)
n.5173G>A
 gnomAD v4
2g.214980549A>CCA350460917ABCA12c.4674T>G (p.Cys1558Trp)
c.3720T>G (p.Cys1240Trp)
n.4974T>G
c.4683T>G (p.Cys1561Trp)
n.5172T>G
2g.214980549A>GCA431148765ABCA12c.4674T>C (p.Cys1558=)
c.3720T>C (p.Cys1240=)
n.4974T>C
c.4683T>C (p.Cys1561=)
n.5172T>C
 gnomAD v4
2g.214980549A>TCA350460919ABCA12c.4674T>A (p.Cys1558Ter)
c.3720T>A (p.Cys1240Ter)
n.4974T>A
c.4683T>A (p.Cys1561Ter)
n.5172T>A
2g.214980550C>ACA350460921ABCA12c.4673G>T (p.Cys1558Phe)
c.3719G>T (p.Cys1240Phe)
n.4973G>T
c.4682G>T (p.Cys1561Phe)
n.5171G>T
 dbSNP gnomAD v2 gnomAD v4
2g.214980550C=CA1327160994ABCA12c.4673G= (p.Cys1558=)
c.3719G= (p.Cys1240=)
n.4973G=
c.4682G= (p.Cys1561=)
n.5171G=
2g.214980550C>GCA350460923ABCA12c.4673G>C (p.Cys1558Ser)
c.3719G>C (p.Cys1240Ser)
n.4973G>C
c.4682G>C (p.Cys1561Ser)
n.5171G>C
2g.214980550C>TCA350460925ABCA12c.4673G>A (p.Cys1558Tyr)
c.3719G>A (p.Cys1240Tyr)
n.4973G>A
c.4682G>A (p.Cys1561Tyr)
n.5171G>A
2g.214980551A>CCA350460929ABCA12c.4672T>G (p.Cys1558Gly)
c.3718T>G (p.Cys1240Gly)
n.4972T>G
c.4681T>G (p.Cys1561Gly)
n.5170T>G
2g.214980551A>GCA350460930ABCA12c.4672T>C (p.Cys1558Arg)
c.3718T>C (p.Cys1240Arg)
n.4972T>C
c.4681T>C (p.Cys1561Arg)
n.5170T>C
2g.214980551A>TCA350460927ABCA12c.4672T>A (p.Cys1558Ser)
c.3718T>A (p.Cys1240Ser)
n.4972T>A
c.4681T>A (p.Cys1561Ser)
n.5170T>A
2g.214980552G>ACA431148775ABCA12c.4671C>T (p.Cys1557=)
c.3717C>T (p.Cys1239=)
n.4971C>T
c.4680C>T (p.Cys1560=)
n.5169C>T
 dbSNP
2g.214980552G>CCA350460935ABCA12c.4671C>G (p.Cys1557Trp)
c.3717C>G (p.Cys1239Trp)
n.4971C>G
c.4680C>G (p.Cys1560Trp)
n.5169C>G
2g.214980552G=CA1327160995ABCA12c.4671C= (p.Cys1557=)
c.3717C= (p.Cys1239=)
n.4971C=
c.4680C= (p.Cys1560=)
n.5169C=
2g.214980552G>TCA350460933ABCA12c.4671C>A (p.Cys1557Ter)
c.3717C>A (p.Cys1239Ter)
n.4971C>A
c.4680C>A (p.Cys1560Ter)
n.5169C>A
2g.214980553C>ACA350460937ABCA12c.4670G>T (p.Cys1557Phe)
c.3716G>T (p.Cys1239Phe)
n.4970G>T
c.4679G>T (p.Cys1560Phe)
n.5168G>T
2g.214980553C=CA1327160996ABCA12c.4670G= (p.Cys1557=)
c.3716G= (p.Cys1239=)
n.4970G=
c.4679G= (p.Cys1560=)
n.5168G=
2g.214980553C>GCA350460939ABCA12c.4670G>C (p.Cys1557Ser)
c.3716G>C (p.Cys1239Ser)
n.4970G>C
c.4679G>C (p.Cys1560Ser)
n.5168G>C
2g.214980553C>TCA350460941ABCA12c.4670G>A (p.Cys1557Tyr)
c.3716G>A (p.Cys1239Tyr)
n.4970G>A
c.4679G>A (p.Cys1560Tyr)
n.5168G>A
 dbSNP gnomAD v3 gnomAD v4
2g.214980554A=CA1327160997ABCA12c.4669T= (p.Cys1557=)
c.3715T= (p.Cys1239=)
n.4969T=
c.4678T= (p.Cys1560=)
n.5167T=
2g.214980554A>CCA350460943ABCA12c.4669T>G (p.Cys1557Gly)
c.3715T>G (p.Cys1239Gly)
n.4969T>G
c.4678T>G (p.Cys1560Gly)
n.5167T>G
2g.214980554A>GCA350460944ABCA12c.4669T>C (p.Cys1557Arg)
c.3715T>C (p.Cys1239Arg)
n.4969T>C
c.4678T>C (p.Cys1560Arg)
n.5167T>C
 dbSNP
2g.214980554A>TCA350460946ABCA12c.4669T>A (p.Cys1557Ser)
c.3715T>A (p.Cys1239Ser)
n.4969T>A
c.4678T>A (p.Cys1560Ser)
n.5167T>A
2g.214980555C>ACA350460948ABCA12c.4668G>T (p.Arg1556Ser)
c.3714G>T (p.Arg1238Ser)
n.4968G>T
c.4677G>T (p.Arg1559Ser)
n.5166G>T
 gnomAD v4
2g.214980555C>GCA350460949ABCA12c.4668G>C (p.Arg1556Ser)
c.3714G>C (p.Arg1238Ser)
n.4968G>C
c.4677G>C (p.Arg1559Ser)
n.5166G>C
2g.214980555C>TCA431148784ABCA12c.4668G>A (p.Arg1556=)
c.3714G>A (p.Arg1238=)
n.4968G>A
c.4677G>A (p.Arg1559=)
n.5166G>A
2g.214980556C>ACA350460952ABCA12c.4667G>T (p.Arg1556Met)
c.3713G>T (p.Arg1238Met)
n.4967G>T
c.4676G>T (p.Arg1559Met)
n.5165G>T
2g.214980556C=CA1327160998ABCA12c.4667G= (p.Arg1556=)
c.3713G= (p.Arg1238=)
n.4967G=
c.4676G= (p.Arg1559=)
n.5165G=
2g.214980556C>GCA350460954ABCA12c.4667G>C (p.Arg1556Thr)
c.3713G>C (p.Arg1238Thr)
n.4967G>C
c.4676G>C (p.Arg1559Thr)
n.5165G>C
 gnomAD v4
2g.214980556C>TCA350460955ABCA12c.4667G>A (p.Arg1556Lys)
c.3713G>A (p.Arg1238Lys)
n.4967G>A
c.4676G>A (p.Arg1559Lys)
n.5165G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214980557T>ACA350460960ABCA12c.4666A>T (p.Arg1556Trp)
c.3712A>T (p.Arg1238Trp)
n.4966A>T
c.4675A>T (p.Arg1559Trp)
n.5164A>T
2g.214980557T>CCA350460958ABCA12c.4666A>G (p.Arg1556Gly)
c.3712A>G (p.Arg1238Gly)
n.4966A>G
c.4675A>G (p.Arg1559Gly)
n.5164A>G
2g.214980557T>GCA2091418ABCA12c.4666A>C (p.Arg1556=)
c.3712A>C (p.Arg1238=)
n.4966A>C
c.4675A>C (p.Arg1559=)
n.5164A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980557T=CA1327160999ABCA12c.4666A= (p.Arg1556=)
c.3712A= (p.Arg1238=)
n.4966A=
c.4675A= (p.Arg1559=)
n.5164A=
2g.214980558A>CCA431148790ABCA12c.4665T>G (p.Leu1555=)
c.3711T>G (p.Leu1237=)
n.4965T>G
c.4674T>G (p.Leu1558=)
n.5163T>G
2g.214980558A>GCA431148791ABCA12c.4665T>C (p.Leu1555=)
c.3711T>C (p.Leu1237=)
n.4965T>C
c.4674T>C (p.Leu1558=)
n.5163T>C
 gnomAD v4
2g.214980558A>TCA431148797ABCA12c.4665T>A (p.Leu1555=)
c.3711T>A (p.Leu1237=)
n.4965T>A
c.4674T>A (p.Leu1558=)
n.5163T>A
2g.214980559A>CCA350460963ABCA12c.4664T>G (p.Leu1555Arg)
c.3710T>G (p.Leu1237Arg)
n.4964T>G
c.4673T>G (p.Leu1558Arg)
n.5162T>G
 COSMIC
2g.214980559A>GCA350460964ABCA12c.4664T>C (p.Leu1555Pro)
c.3710T>C (p.Leu1237Pro)
n.4964T>C
c.4673T>C (p.Leu1558Pro)
n.5162T>C
2g.214980559A>TCA350460965ABCA12c.4664T>A (p.Leu1555His)
c.3710T>A (p.Leu1237His)
n.4964T>A
c.4673T>A (p.Leu1558His)
n.5162T>A
2g.214980560G>ACA350460967ABCA12c.4663C>T (p.Leu1555Phe)
c.3709C>T (p.Leu1237Phe)
n.4963C>T
c.4672C>T (p.Leu1558Phe)
n.5161C>T
 gnomAD v4
2g.214980560G>CCA350460969ABCA12c.4663C>G (p.Leu1555Val)
c.3709C>G (p.Leu1237Val)
n.4963C>G
c.4672C>G (p.Leu1558Val)
n.5161C>G
2g.214980560G=CA1327161000ABCA12c.4663C= (p.Leu1555=)
c.3709C= (p.Leu1237=)
n.4963C=
c.4672C= (p.Leu1558=)
n.5161C=
2g.214980560G>TCA64814875ABCA12c.4663C>A (p.Leu1555Ile)
c.3709C>A (p.Leu1237Ile)
n.4963C>A
c.4672C>A (p.Leu1558Ile)
n.5161C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214980561C>ACA431148811ABCA12c.4662G>T (p.Gly1554=)
c.3708G>T (p.Gly1236=)
n.4962G>T
c.4671G>T (p.Gly1557=)
n.5160G>T
2g.214980561C>GCA431148813ABCA12c.4662G>C (p.Gly1554=)
c.3708G>C (p.Gly1236=)
n.4962G>C
c.4671G>C (p.Gly1557=)
n.5160G>C
2g.214980561C>TCA431148814ABCA12c.4662G>A (p.Gly1554=)
c.3708G>A (p.Gly1236=)
n.4962G>A
c.4671G>A (p.Gly1557=)
n.5160G>A
2g.214980564_214980567delCA2662978475ABCA12c.4659_4662del (p.Gly1554LeufsTer?)
c.3705_3708del (p.Gly1236LeufsTer?)
n.4959_4962del
c.4668_4671del (p.Gly1557LeufsTer?)
n.5157_5160del
 gnomAD v4
2g.214980562C>ACA350460972ABCA12c.4661G>T (p.Gly1554Val)
c.3707G>T (p.Gly1236Val)
n.4961G>T
c.4670G>T (p.Gly1557Val)
n.5159G>T
2g.214980562C>GCA350460974ABCA12c.4661G>C (p.Gly1554Ala)
c.3707G>C (p.Gly1236Ala)
n.4961G>C
c.4670G>C (p.Gly1557Ala)
n.5159G>C
2g.214980562C>TCA350460975ABCA12c.4661G>A (p.Gly1554Glu)
c.3707G>A (p.Gly1236Glu)
n.4961G>A
c.4670G>A (p.Gly1557Glu)
n.5159G>A
2g.214980563C>ACA350460978ABCA12c.4660G>T (p.Gly1554Trp)
c.3706G>T (p.Gly1236Trp)
n.4960G>T
c.4669G>T (p.Gly1557Trp)
n.5158G>T
2g.214980563C=CA1327161001ABCA12c.4660G= (p.Gly1554=)
c.3706G= (p.Gly1236=)
n.4960G=
c.4669G= (p.Gly1557=)
n.5158G=
2g.214980563C>GCA350460980ABCA12c.4660G>C (p.Gly1554Arg)
c.3706G>C (p.Gly1236Arg)
n.4960G>C
c.4669G>C (p.Gly1557Arg)
n.5158G>C
2g.214980563C>TCA2091419ABCA12c.4660G>A (p.Gly1554Arg)
c.3706G>A (p.Gly1236Arg)
n.4960G>A
c.4669G>A (p.Gly1557Arg)
n.5158G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980564A>CCA431148824ABCA12c.4659T>G (p.Gly1553=)
c.3705T>G (p.Gly1235=)
n.4959T>G
c.4668T>G (p.Gly1556=)
n.5157T>G
2g.214980564A>GCA431148826ABCA12c.4659T>C (p.Gly1553=)
c.3705T>C (p.Gly1235=)
n.4959T>C
c.4668T>C (p.Gly1556=)
n.5157T>C
2g.214980564A>TCA431148828ABCA12c.4659T>A (p.Gly1553=)
c.3705T>A (p.Gly1235=)
n.4959T>A
c.4668T>A (p.Gly1556=)
n.5157T>A
 gnomAD v4
2g.214980565C>ACA350460984ABCA12c.4658G>T (p.Gly1553Val)
c.3704G>T (p.Gly1235Val)
n.4958G>T
c.4667G>T (p.Gly1556Val)
n.5156G>T
2g.214980565C=CA1327161002ABCA12c.4658G= (p.Gly1553=)
c.3704G= (p.Gly1235=)
n.4958G=
c.4667G= (p.Gly1556=)
n.5156G=
2g.214980565C>GCA350460985ABCA12c.4658G>C (p.Gly1553Ala)
c.3704G>C (p.Gly1235Ala)
n.4958G>C
c.4667G>C (p.Gly1556Ala)
n.5156G>C
2g.214980565C>TCA350460983ABCA12c.4658G>A (p.Gly1553Asp)
c.3704G>A (p.Gly1235Asp)
n.4958G>A
c.4667G>A (p.Gly1556Asp)
n.5156G>A
 dbSNP gnomAD v3 gnomAD v4
2g.214980566C>ACA350460988ABCA12c.4657G>T (p.Gly1553Cys)
c.3703G>T (p.Gly1235Cys)
n.4957G>T
c.4666G>T (p.Gly1556Cys)
n.5155G>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214980566C=CA1327161003ABCA12c.4657G= (p.Gly1553=)
c.3703G= (p.Gly1235=)
n.4957G=
c.4666G= (p.Gly1556=)
n.5155G=
2g.214980566C>GCA350460990ABCA12c.4657G>C (p.Gly1553Arg)
c.3703G>C (p.Gly1235Arg)
n.4957G>C
c.4666G>C (p.Gly1556Arg)
n.5155G>C
 dbSNP
2g.214980566C>TCA350460992ABCA12c.4657G>A (p.Gly1553Ser)
c.3703G>A (p.Gly1235Ser)
n.4957G>A
c.4666G>A (p.Gly1556Ser)
n.5155G>A
2g.214980567C>ACA350460994ABCA12c.4656G>T (p.Gln1552His)
c.3702G>T (p.Gln1234His)
n.4956G>T
c.4665G>T (p.Gln1555His)
n.5154G>T
2g.214980567C>GCA350460996ABCA12c.4656G>C (p.Gln1552His)
c.3702G>C (p.Gln1234His)
n.4956G>C
c.4665G>C (p.Gln1555His)
n.5154G>C
2g.214980567C>TCA431148839ABCA12c.4656G>A (p.Gln1552=)
c.3702G>A (p.Gln1234=)
n.4956G>A
c.4665G>A (p.Gln1555=)
n.5154G>A
2g.214980568T>ACA350460998ABCA12c.4655A>T (p.Gln1552Leu)
c.3701A>T (p.Gln1234Leu)
n.4955A>T
c.4664A>T (p.Gln1555Leu)
n.5153A>T
 dbSNP
2g.214980568T>CCA2091420ABCA12c.4655A>G (p.Gln1552Arg)
c.3701A>G (p.Gln1234Arg)
n.4955A>G
c.4664A>G (p.Gln1555Arg)
n.5153A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980568T>GCA350461002ABCA12c.4655A>C (p.Gln1552Pro)
c.3701A>C (p.Gln1234Pro)
n.4955A>C
c.4664A>C (p.Gln1555Pro)
n.5153A>C
2g.214980568T=CA1327161004ABCA12c.4655A= (p.Gln1552=)
c.3701A= (p.Gln1234=)
n.4955A=
c.4664A= (p.Gln1555=)
n.5153A=
2g.214980569G>ACA350461003ABCA12c.4654C>T (p.Gln1552Ter)
c.3700C>T (p.Gln1234Ter)
n.4954C>T
c.4663C>T (p.Gln1555Ter)
n.5152C>T
2g.214980569G>CCA350461005ABCA12c.4654C>G (p.Gln1552Glu)
c.3700C>G (p.Gln1234Glu)
n.4954C>G
c.4663C>G (p.Gln1555Glu)
n.5152C>G
2g.214980569G>TCA350461007ABCA12c.4654C>A (p.Gln1552Lys)
c.3700C>A (p.Gln1234Lys)
n.4954C>A
c.4663C>A (p.Gln1555Lys)
n.5152C>A
2g.214980570C>ACA2091421ABCA12c.4653G>T (p.Glu1551Asp)
c.3699G>T (p.Glu1233Asp)
n.4953G>T
c.4662G>T (p.Glu1554Asp)
n.5151G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980570C=CA1327161005ABCA12c.4653G= (p.Glu1551=)
c.3699G= (p.Glu1233=)
n.4953G=
c.4662G= (p.Glu1554=)
n.5151G=
2g.214980570C>GCA350461009ABCA12c.4653G>C (p.Glu1551Asp)
c.3699G>C (p.Glu1233Asp)
n.4953G>C
c.4662G>C (p.Glu1554Asp)
n.5151G>C
2g.214980570C>TCA431148845ABCA12c.4653G>A (p.Glu1551=)
c.3699G>A (p.Glu1233=)
n.4953G>A
c.4662G>A (p.Glu1554=)
n.5151G>A
 ClinVar COSMIC COSMIC
2g.214980571T>ACA350461015ABCA12c.4652A>T (p.Glu1551Val)
c.3698A>T (p.Glu1233Val)
n.4952A>T
c.4661A>T (p.Glu1554Val)
n.5150A>T
2g.214980571T>CCA350461012ABCA12c.4652A>G (p.Glu1551Gly)
c.3698A>G (p.Glu1233Gly)
n.4952A>G
c.4661A>G (p.Glu1554Gly)
n.5150A>G
2g.214980571T>GCA350461011ABCA12c.4652A>C (p.Glu1551Ala)
c.3698A>C (p.Glu1233Ala)
n.4952A>C
c.4661A>C (p.Glu1554Ala)
n.5150A>C
2g.214980572C>ACA350461016ABCA12c.4651G>T (p.Glu1551Ter)
c.3697G>T (p.Glu1233Ter)
n.4951G>T
c.4660G>T (p.Glu1554Ter)
n.5149G>T
2g.214980572C=CA1327161006ABCA12c.4651G= (p.Glu1551=)
c.3697G= (p.Glu1233=)
n.4951G=
c.4660G= (p.Glu1554=)
n.5149G=
2g.214980572C>GCA350461017ABCA12c.4651G>C (p.Glu1551Gln)
c.3697G>C (p.Glu1233Gln)
n.4951G>C
c.4660G>C (p.Glu1554Gln)
n.5149G>C
2g.214980572C>TCA350461020ABCA12c.4651G>A (p.Glu1551Lys)
c.3697G>A (p.Glu1233Lys)
n.4951G>A
c.4660G>A (p.Glu1554Lys)
n.5149G>A
 dbSNP gnomAD v3 gnomAD v4
2g.214980573C>ACA431148856ABCA12c.4650G>T (p.Leu1550=)
c.3696G>T (p.Leu1232=)
n.4950G>T
c.4659G>T (p.Leu1553=)
n.5148G>T
2g.214980573C>GCA431148857ABCA12c.4650G>C (p.Leu1550=)
c.3696G>C (p.Leu1232=)
n.4950G>C
c.4659G>C (p.Leu1553=)
n.5148G>C
 gnomAD v4
2g.214980573C>TCA431148859ABCA12c.4650G>A (p.Leu1550=)
c.3696G>A (p.Leu1232=)
n.4950G>A
c.4659G>A (p.Leu1553=)
n.5148G>A
2g.214980574A>CCA350461022ABCA12c.4649T>G (p.Leu1550Arg)
c.3695T>G (p.Leu1232Arg)
n.4949T>G
c.4658T>G (p.Leu1553Arg)
n.5147T>G
2g.214980574A>GCA350461023ABCA12c.4649T>C (p.Leu1550Pro)
c.3695T>C (p.Leu1232Pro)
n.4949T>C
c.4658T>C (p.Leu1553Pro)
n.5147T>C
2g.214980574A>TCA350461025ABCA12c.4649T>A (p.Leu1550Gln)
c.3695T>A (p.Leu1232Gln)
n.4949T>A
c.4658T>A (p.Leu1553Gln)
n.5147T>A
2g.214980575G>ACA431148863ABCA12c.4648C>T (p.Leu1550=)
c.3694C>T (p.Leu1232=)
n.4948C>T
c.4657C>T (p.Leu1553=)
n.5146C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214980575G>CCA350461026ABCA12c.4648C>G (p.Leu1550Val)
c.3694C>G (p.Leu1232Val)
n.4948C>G
c.4657C>G (p.Leu1553Val)
n.5146C>G
2g.214980575G=CA1327161007ABCA12c.4648C= (p.Leu1550=)
c.3694C= (p.Leu1232=)
n.4948C=
c.4657C= (p.Leu1553=)
n.5146C=
2g.214980575G>TCA350461028ABCA12c.4648C>A (p.Leu1550Met)
c.3694C>A (p.Leu1232Met)
n.4948C>A
c.4657C>A (p.Leu1553Met)
n.5146C>A
2g.214980576G>ACA431148865ABCA12c.4647C>T (p.Phe1549=)
c.3693C>T (p.Phe1231=)
n.4947C>T
c.4656C>T (p.Phe1552=)
n.5145C>T
2g.214980576G>CCA350461029ABCA12c.4647C>G (p.Phe1549Leu)
c.3693C>G (p.Phe1231Leu)
n.4947C>G
c.4656C>G (p.Phe1552Leu)
n.5145C>G
2g.214980576G>TCA350461031ABCA12c.4647C>A (p.Phe1549Leu)
c.3693C>A (p.Phe1231Leu)
n.4947C>A
c.4656C>A (p.Phe1552Leu)
n.5145C>A
2g.214980577A=CA1327161008ABCA12c.4646T= (p.Phe1549=)
c.3692T= (p.Phe1231=)
n.4946T=
c.4655T= (p.Phe1552=)
n.5144T=
2g.214980577A>CCA350461034ABCA12c.4646T>G (p.Phe1549Cys)
c.3692T>G (p.Phe1231Cys)
n.4946T>G
c.4655T>G (p.Phe1552Cys)
n.5144T>G
2g.214980577A>GCA350461036ABCA12c.4646T>C (p.Phe1549Ser)
c.3692T>C (p.Phe1231Ser)
n.4946T>C
c.4655T>C (p.Phe1552Ser)
n.5144T>C
2g.214980577A>TCA350461037ABCA12c.4646T>A (p.Phe1549Tyr)
c.3692T>A (p.Phe1231Tyr)
n.4946T>A
c.4655T>A (p.Phe1552Tyr)
n.5144T>A
2g.214980577_214980578insGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTTCA2091422ABCA12c.4645_4646insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC (p.Phe1549Ter)
c.3691_3692insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC (p.Phe1231Ter)
n.4945_4946insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC
c.4654_4655insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC (p.Phe1552Ter)
n.5143_5144insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC
 dbSNP ExAC
2g.214980578A=CA1327161009ABCA12c.4645T= (p.Phe1549=)
c.3691T= (p.Phe1231=)
n.4945T=
c.4654T= (p.Phe1552=)
n.5143T=
2g.214980578A>CCA350461041ABCA12c.4645T>G (p.Phe1549Val)
c.3691T>G (p.Phe1231Val)
n.4945T>G
c.4654T>G (p.Phe1552Val)
n.5143T>G
2g.214980578A>GCA2091423ABCA12c.4645T>C (p.Phe1549Leu)
c.3691T>C (p.Phe1231Leu)
n.4945T>C
c.4654T>C (p.Phe1552Leu)
n.5143T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980578A>TCA350461040ABCA12c.4645T>A (p.Phe1549Ile)
c.3691T>A (p.Phe1231Ile)
n.4945T>A
c.4654T>A (p.Phe1552Ile)
n.5143T>A
2g.214980579G>ACA431148881ABCA12c.4644C>T (p.Ala1548=)
c.3690C>T (p.Ala1230=)
n.4944C>T
c.4653C>T (p.Ala1551=)
n.5142C>T
2g.214980579G>CCA2091424ABCA12c.4644C>G (p.Ala1548=)
c.3690C>G (p.Ala1230=)
n.4944C>G
c.4653C>G (p.Ala1551=)
n.5142C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980579G=CA1327161010ABCA12c.4644C= (p.Ala1548=)
c.3690C= (p.Ala1230=)
n.4944C=
c.4653C= (p.Ala1551=)
n.5142C=
2g.214980579G>TCA431148883ABCA12c.4644C>A (p.Ala1548=)
c.3690C>A (p.Ala1230=)
n.4944C>A
c.4653C>A (p.Ala1551=)
n.5142C>A
2g.214980580G>ACA350461046ABCA12c.4643C>T (p.Ala1548Val)
c.3689C>T (p.Ala1230Val)
n.4943C>T
c.4652C>T (p.Ala1551Val)
n.5141C>T
2g.214980580G>CCA350461049ABCA12c.4643C>G (p.Ala1548Gly)
c.3689C>G (p.Ala1230Gly)
n.4943C>G
c.4652C>G (p.Ala1551Gly)
n.5141C>G
2g.214980580G>TCA350461048ABCA12c.4643C>A (p.Ala1548Asp)
c.3689C>A (p.Ala1230Asp)
n.4943C>A
c.4652C>A (p.Ala1551Asp)
n.5141C>A
 gnomAD v4
2g.214980581C>ACA350461052ABCA12c.4642G>T (p.Ala1548Ser)
c.3688G>T (p.Ala1230Ser)
n.4942G>T
c.4651G>T (p.Ala1551Ser)
n.5140G>T
2g.214980581C=CA1327161011ABCA12c.4642G= (p.Ala1548=)
c.3688G= (p.Ala1230=)
n.4942G=
c.4651G= (p.Ala1551=)
n.5140G=
2g.214980581C>GCA350461054ABCA12c.4642G>C (p.Ala1548Pro)
c.3688G>C (p.Ala1230Pro)
n.4942G>C
c.4651G>C (p.Ala1551Pro)
n.5140G>C
2g.214980581C>TCA2091425ABCA12c.4642G>A (p.Ala1548Thr)
c.3688G>A (p.Ala1230Thr)
n.4942G>A
c.4651G>A (p.Ala1551Thr)
n.5140G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980582_214980590delCA2662978476ABCA12c.4634_4642del (p.Asp1545_Ile1547del)
c.3680_3688del (p.Asp1227_Ile1229del)
n.4934_4942del
c.4643_4651del (p.Asp1548_Ile1550del)
n.5132_5140del
 gnomAD v4
2g.214980582G>ACA64814895ABCA12c.4641C>T (p.Ile1547=)
c.3687C>T (p.Ile1229=)
n.4941C>T
c.4650C>T (p.Ile1550=)
n.5139C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214980582G>CCA350461057ABCA12c.4641C>G (p.Ile1547Met)
c.3687C>G (p.Ile1229Met)
n.4941C>G
c.4650C>G (p.Ile1550Met)
n.5139C>G
 dbSNP
2g.214980582G=CA1327161012ABCA12c.4641C= (p.Ile1547=)
c.3687C= (p.Ile1229=)
n.4941C=
c.4650C= (p.Ile1550=)
n.5139C=
2g.214980582G>TCA431148886ABCA12c.4641C>A (p.Ile1547=)
c.3687C>A (p.Ile1229=)
n.4941C>A
c.4650C>A (p.Ile1550=)
n.5139C>A
2g.214980583A=CA1327161013ABCA12c.4640T= (p.Ile1547=)
c.3686T= (p.Ile1229=)
n.4940T=
c.4649T= (p.Ile1550=)
n.5138T=
2g.214980583A>CCA350461059ABCA12c.4640T>G (p.Ile1547Ser)
c.3686T>G (p.Ile1229Ser)
n.4940T>G
c.4649T>G (p.Ile1550Ser)
n.5138T>G
2g.214980583A>GCA2091426ABCA12c.4640T>C (p.Ile1547Thr)
c.3686T>C (p.Ile1229Thr)
n.4940T>C
c.4649T>C (p.Ile1550Thr)
n.5138T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980583A>TCA350461062ABCA12c.4640T>A (p.Ile1547Asn)
c.3686T>A (p.Ile1229Asn)
n.4940T>A
c.4649T>A (p.Ile1550Asn)
n.5138T>A
 COSMIC COSMIC
2g.214980584T>ACA350461063ABCA12c.4639A>T (p.Ile1547Phe)
c.3685A>T (p.Ile1229Phe)
n.4939A>T
c.4648A>T (p.Ile1550Phe)
n.5137A>T
2g.214980584T>CCA350461065ABCA12c.4639A>G (p.Ile1547Val)
c.3685A>G (p.Ile1229Val)
n.4939A>G
c.4648A>G (p.Ile1550Val)
n.5137A>G
 gnomAD v4
2g.214980584T>GCA350461067ABCA12c.4639A>C (p.Ile1547Leu)
c.3685A>C (p.Ile1229Leu)
n.4939A>C
c.4648A>C (p.Ile1550Leu)
n.5137A>C
2g.214980585G>ACA431148895ABCA12c.4638C>T (p.Arg1546=)
c.3684C>T (p.Arg1228=)
n.4938C>T
c.4647C>T (p.Arg1549=)
n.5136C>T
2g.214980585G>CCA431148896ABCA12c.4638C>G (p.Arg1546=)
c.3684C>G (p.Arg1228=)
n.4938C>G
c.4647C>G (p.Arg1549=)
n.5136C>G
2g.214980585G>TCA431148897ABCA12c.4638C>A (p.Arg1546=)
c.3684C>A (p.Arg1228=)
n.4938C>A
c.4647C>A (p.Arg1549=)
n.5136C>A
2g.214980586C>ACA350461069ABCA12c.4637G>T (p.Arg1546Leu)
c.3683G>T (p.Arg1228Leu)
n.4937G>T
c.4646G>T (p.Arg1549Leu)
n.5135G>T
 dbSNP gnomAD v3 gnomAD v4
2g.214980586C=CA1327161014ABCA12c.4637G= (p.Arg1546=)
c.3683G= (p.Arg1228=)
n.4937G=
c.4646G= (p.Arg1549=)
n.5135G=
2g.214980586C>GCA350461071ABCA12c.4637G>C (p.Arg1546Pro)
c.3683G>C (p.Arg1228Pro)
n.4937G>C
c.4646G>C (p.Arg1549Pro)
n.5135G>C
2g.214980586C>TCA350461074ABCA12c.4637G>A (p.Arg1546His)
c.3683G>A (p.Arg1228His)
n.4937G>A
c.4646G>A (p.Arg1549His)
n.5135G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.214980587G>ACA2091427ABCA12c.4636C>T (p.Arg1546Cys)
c.3682C>T (p.Arg1228Cys)
n.4936C>T
c.4645C>T (p.Arg1549Cys)
n.5134C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980587G>CCA350461077ABCA12c.4636C>G (p.Arg1546Gly)
c.3682C>G (p.Arg1228Gly)
n.4936C>G
c.4645C>G (p.Arg1549Gly)
n.5134C>G
 gnomAD v4
2g.214980587G=CA1327161015ABCA12c.4636C= (p.Arg1546=)
c.3682C= (p.Arg1228=)
n.4936C=
c.4645C= (p.Arg1549=)
n.5134C=
2g.214980587G>TCA350461078ABCA12c.4636C>A (p.Arg1546Ser)
c.3682C>A (p.Arg1228Ser)
n.4936C>A
c.4645C>A (p.Arg1549Ser)
n.5134C>A
 dbSNP gnomAD v3 gnomAD v4
2g.214980588G>ACA431148907ABCA12c.4635C>T (p.Asp1545=)
c.3681C>T (p.Asp1227=)
n.4935C>T
c.4644C>T (p.Asp1548=)
n.5133C>T
 gnomAD v4
2g.214980588G>CCA350461080ABCA12c.4635C>G (p.Asp1545Glu)
c.3681C>G (p.Asp1227Glu)
n.4935C>G
c.4644C>G (p.Asp1548Glu)
n.5133C>G
2g.214980588G>TCA350461082ABCA12c.4635C>A (p.Asp1545Glu)
c.3681C>A (p.Asp1227Glu)
n.4935C>A
c.4644C>A (p.Asp1548Glu)
n.5133C>A
2g.214980589T>ACA350461085ABCA12c.4634A>T (p.Asp1545Val)
c.3680A>T (p.Asp1227Val)
n.4934A>T
c.4643A>T (p.Asp1548Val)
n.5132A>T
2g.214980589T>CCA350461086ABCA12c.4634A>G (p.Asp1545Gly)
c.3680A>G (p.Asp1227Gly)
n.4934A>G
c.4643A>G (p.Asp1548Gly)
n.5132A>G
2g.214980589T>GCA350461088ABCA12c.4634A>C (p.Asp1545Ala)
c.3680A>C (p.Asp1227Ala)
n.4934A>C
c.4643A>C (p.Asp1548Ala)
n.5132A>C
2g.214980590C>ACA350461090ABCA12c.4633G>T (p.Asp1545Tyr)
c.3679G>T (p.Asp1227Tyr)
n.4933G>T
c.4642G>T (p.Asp1548Tyr)
n.5131G>T
2g.214980590C>GCA350461091ABCA12c.4633G>C (p.Asp1545His)
c.3679G>C (p.Asp1227His)
n.4933G>C
c.4642G>C (p.Asp1548His)
n.5131G>C
2g.214980590C>TCA350461093ABCA12c.4633G>A (p.Asp1545Asn)
c.3679G>A (p.Asp1227Asn)
n.4933G>A
c.4642G>A (p.Asp1548Asn)
n.5131G>A
2g.214980591A>CCA350461096ABCA12c.4632T>G (p.Ser1544Arg)
c.3678T>G (p.Ser1226Arg)
n.4932T>G
c.4641T>G (p.Ser1547Arg)
n.5130T>G
2g.214980591A>GCA431148914ABCA12c.4632T>C (p.Ser1544=)
c.3678T>C (p.Ser1226=)
n.4932T>C
c.4641T>C (p.Ser1547=)
n.5130T>C
2g.214980591A>TCA350461097ABCA12c.4632T>A (p.Ser1544Arg)
c.3678T>A (p.Ser1226Arg)
n.4932T>A
c.4641T>A (p.Ser1547Arg)
n.5130T>A
2g.214980592C>ACA350461099ABCA12c.4631G>T (p.Ser1544Ile)
c.3677G>T (p.Ser1226Ile)
n.4931G>T
c.4640G>T (p.Ser1547Ile)
n.5129G>T
2g.214980592C>GCA350461101ABCA12c.4631G>C (p.Ser1544Thr)
c.3677G>C (p.Ser1226Thr)
n.4931G>C
c.4640G>C (p.Ser1547Thr)
n.5129G>C
2g.214980592C>TCA350461102ABCA12c.4631G>A (p.Ser1544Asn)
c.3677G>A (p.Ser1226Asn)
n.4931G>A
c.4640G>A (p.Ser1547Asn)
n.5129G>A
2g.214980593T>ACA350461108ABCA12c.4630A>T (p.Ser1544Cys)
c.3676A>T (p.Ser1226Cys)
n.4930A>T
c.4639A>T (p.Ser1547Cys)
n.5128A>T
2g.214980593T>CCA350461106ABCA12c.4630A>G (p.Ser1544Gly)
c.3676A>G (p.Ser1226Gly)
n.4930A>G
c.4639A>G (p.Ser1547Gly)
n.5128A>G
2g.214980593T>GCA350461104ABCA12c.4630A>C (p.Ser1544Arg)
c.3676A>C (p.Ser1226Arg)
n.4930A>C
c.4639A>C (p.Ser1547Arg)
n.5128A>C
2g.214980594C>ACA431148923ABCA12c.4629G>T (p.Leu1543=)
c.3675G>T (p.Leu1225=)
n.4929G>T
c.4638G>T (p.Leu1546=)
n.5127G>T
2g.214980594C>GCA431148921ABCA12c.4629G>C (p.Leu1543=)
c.3675G>C (p.Leu1225=)
n.4929G>C
c.4638G>C (p.Leu1546=)
n.5127G>C
2g.214980594C>TCA431148920ABCA12c.4629G>A (p.Leu1543=)
c.3675G>A (p.Leu1225=)
n.4929G>A
c.4638G>A (p.Leu1546=)
n.5127G>A
 gnomAD v4 COSMIC COSMIC
2g.214980595A>CCA350461113ABCA12c.4628T>G (p.Leu1543Arg)
c.3674T>G (p.Leu1225Arg)
n.4928T>G
c.4637T>G (p.Leu1546Arg)
n.5126T>G
2g.214980595A>GCA350461110ABCA12c.4628T>C (p.Leu1543Pro)
c.3674T>C (p.Leu1225Pro)
n.4928T>C
c.4637T>C (p.Leu1546Pro)
n.5126T>C
2g.214980595A>TCA350461111ABCA12c.4628T>A (p.Leu1543Gln)
c.3674T>A (p.Leu1225Gln)
n.4928T>A
c.4637T>A (p.Leu1546Gln)
n.5126T>A
2g.214980596G>ACA2091428ABCA12c.4627C>T (p.Leu1543=)
c.3673C>T (p.Leu1225=)
n.4927C>T
c.4636C>T (p.Leu1546=)
n.5125C>T
 dbSNP ExAC gnomAD v4
2g.214980596G>CCA350461116ABCA12c.4627C>G (p.Leu1543Val)
c.3673C>G (p.Leu1225Val)
n.4927C>G
c.4636C>G (p.Leu1546Val)
n.5125C>G
2g.214980596G=CA1327161016ABCA12c.4627C= (p.Leu1543=)
c.3673C= (p.Leu1225=)
n.4927C=
c.4636C= (p.Leu1546=)
n.5125C=
2g.214980596G>TCA350461118ABCA12c.4627C>A (p.Leu1543Met)
c.3673C>A (p.Leu1225Met)
n.4927C>A
c.4636C>A (p.Leu1546Met)
n.5125C>A
2g.214980597C>ACA431148927ABCA12c.4626G>T (p.Val1542=)
c.3672G>T (p.Val1224=)
n.4926G>T
c.4635G>T (p.Val1545=)
n.5124G>T
 gnomAD v4
2g.214980597C>GCA431148929ABCA12c.4626G>C (p.Val1542=)
c.3672G>C (p.Val1224=)
n.4926G>C
c.4635G>C (p.Val1545=)
n.5124G>C
2g.214980597C>TCA431148928ABCA12c.4626G>A (p.Val1542=)
c.3672G>A (p.Val1224=)
n.4926G>A
c.4635G>A (p.Val1545=)
n.5124G>A
2g.214980598A>CCA350461123ABCA12c.4625T>G (p.Val1542Gly)
c.3671T>G (p.Val1224Gly)
n.4925T>G
c.4634T>G (p.Val1545Gly)
n.5123T>G
 gnomAD v4
2g.214980598A>GCA350461121ABCA12c.4625T>C (p.Val1542Ala)
c.3671T>C (p.Val1224Ala)
n.4925T>C
c.4634T>C (p.Val1545Ala)
n.5123T>C
2g.214980598A>TCA350461120ABCA12c.4625T>A (p.Val1542Glu)
c.3671T>A (p.Val1224Glu)
n.4925T>A
c.4634T>A (p.Val1545Glu)
n.5123T>A
2g.214980599C>ACA350461126ABCA12c.4624G>T (p.Val1542Leu)
c.3670G>T (p.Val1224Leu)
n.4924G>T
c.4633G>T (p.Val1545Leu)
n.5122G>T
2g.214980599C>GCA350461127ABCA12c.4624G>C (p.Val1542Leu)
c.3670G>C (p.Val1224Leu)
n.4924G>C
c.4633G>C (p.Val1545Leu)
n.5122G>C
 gnomAD v4
2g.214980599C>TCA350461129ABCA12c.4624G>A (p.Val1542Met)
c.3670G>A (p.Val1224Met)
n.4924G>A
c.4633G>A (p.Val1545Met)
n.5122G>A
2g.214980600T>ACA350461132ABCA12c.4623A>T (p.Glu1541Asp)
c.3669A>T (p.Glu1223Asp)
n.4923A>T
c.4632A>T (p.Glu1544Asp)
n.5121A>T
2g.214980600T>CCA2091429ABCA12c.4623A>G (p.Glu1541=)
c.3669A>G (p.Glu1223=)
n.4923A>G
c.4632A>G (p.Glu1544=)
n.5121A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980600T>GCA350461134ABCA12c.4623A>C (p.Glu1541Asp)
c.3669A>C (p.Glu1223Asp)
n.4923A>C
c.4632A>C (p.Glu1544Asp)
n.5121A>C
2g.214980600T=CA1327161017ABCA12c.4623A= (p.Glu1541=)
c.3669A= (p.Glu1223=)
n.4923A=
c.4632A= (p.Glu1544=)
n.5121A=
2g.214980601T>ACA350461137ABCA12c.4622A>T (p.Glu1541Val)
c.3668A>T (p.Glu1223Val)
n.4922A>T
c.4631A>T (p.Glu1544Val)
n.5120A>T
2g.214980601T>CCA350461140ABCA12c.4622A>G (p.Glu1541Gly)
c.3668A>G (p.Glu1223Gly)
n.4922A>G
c.4631A>G (p.Glu1544Gly)
n.5120A>G
2g.214980601T>GCA350461138ABCA12c.4622A>C (p.Glu1541Ala)
c.3668A>C (p.Glu1223Ala)
n.4922A>C
c.4631A>C (p.Glu1544Ala)
n.5120A>C
2g.214980602C>ACA350461143ABCA12c.4621G>T (p.Glu1541Ter)
c.3667G>T (p.Glu1223Ter)
n.4921G>T
c.4630G>T (p.Glu1544Ter)
n.5119G>T
2g.214980602C>GCA350461144ABCA12c.4621G>C (p.Glu1541Gln)
c.3667G>C (p.Glu1223Gln)
n.4921G>C
c.4630G>C (p.Glu1544Gln)
n.5119G>C
2g.214980602C>TCA350461145ABCA12c.4621G>A (p.Glu1541Lys)
c.3667G>A (p.Glu1223Lys)
n.4921G>A
c.4630G>A (p.Glu1544Lys)
n.5119G>A
2g.214980603A>CCA431148944ABCA12c.4620T>G (p.Ala1540=)
c.3666T>G (p.Ala1222=)
n.4920T>G
c.4629T>G (p.Ala1543=)
n.5118T>G
2g.214980603A>GCA431148945ABCA12c.4620T>C (p.Ala1540=)
c.3666T>C (p.Ala1222=)
n.4920T>C
c.4629T>C (p.Ala1543=)
n.5118T>C
 ClinVar gnomAD v4
2g.214980603A>TCA431148947ABCA12c.4620T>A (p.Ala1540=)
c.3666T>A (p.Ala1222=)
n.4920T>A
c.4629T>A (p.Ala1543=)
n.5118T>A
2g.214980604G>ACA2091430ABCA12c.4619C>T (p.Ala1540Val)
c.3665C>T (p.Ala1222Val)
n.4919C>T
c.4628C>T (p.Ala1543Val)
n.5117C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980604G>CCA350461148ABCA12c.4619C>G (p.Ala1540Gly)
c.3665C>G (p.Ala1222Gly)
n.4919C>G
c.4628C>G (p.Ala1543Gly)
n.5117C>G
2g.214980604G=CA1327161018ABCA12c.4619C= (p.Ala1540=)
c.3665C= (p.Ala1222=)
n.4919C=
c.4628C= (p.Ala1543=)
n.5117C=
2g.214980604G>TCA350461149ABCA12c.4619C>A (p.Ala1540Asp)
c.3665C>A (p.Ala1222Asp)
n.4919C>A
c.4628C>A (p.Ala1543Asp)
n.5117C>A
2g.214980605C>ACA2091432ABCA12c.4618G>T (p.Ala1540Ser)
c.3664G>T (p.Ala1222Ser)
n.4918G>T
c.4627G>T (p.Ala1543Ser)
n.5116G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980605C=CA1327161019ABCA12c.4618G= (p.Ala1540=)
c.3664G= (p.Ala1222=)
n.4918G=
c.4627G= (p.Ala1543=)
n.5116G=
2g.214980605C>GCA350461153ABCA12c.4618G>C (p.Ala1540Pro)
c.3664G>C (p.Ala1222Pro)
n.4918G>C
c.4627G>C (p.Ala1543Pro)
n.5116G>C
2g.214980605C>TCA2091431ABCA12c.4618G>A (p.Ala1540Thr)
c.3664G>A (p.Ala1222Thr)
n.4918G>A
c.4627G>A (p.Ala1543Thr)
n.5116G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980606C>ACA350461155ABCA12c.4617G>T (p.Glu1539Asp)
c.3663G>T (p.Glu1221Asp)
n.4917G>T
c.4626G>T (p.Glu1542Asp)
n.5115G>T
2g.214980606C>GCA350461157ABCA12c.4617G>C (p.Glu1539Asp)
c.3663G>C (p.Glu1221Asp)
n.4917G>C
c.4626G>C (p.Glu1542Asp)
n.5115G>C
 gnomAD v4
2g.214980606C>TCA431148956ABCA12c.4617G>A (p.Glu1539=)
c.3663G>A (p.Glu1221=)
n.4917G>A
c.4626G>A (p.Glu1542=)
n.5115G>A
 gnomAD v4
2g.214980607T>ACA350461161ABCA12c.4616A>T (p.Glu1539Val)
c.3662A>T (p.Glu1221Val)
n.4916A>T
c.4625A>T (p.Glu1542Val)
n.5114A>T
2g.214980607T>CCA350461163ABCA12c.4616A>G (p.Glu1539Gly)
c.3662A>G (p.Glu1221Gly)
n.4916A>G
c.4625A>G (p.Glu1542Gly)
n.5114A>G
2g.214980607T>GCA350461160ABCA12c.4616A>C (p.Glu1539Ala)
c.3662A>C (p.Glu1221Ala)
n.4916A>C
c.4625A>C (p.Glu1542Ala)
n.5114A>C
2g.214980608C>ACA350461165ABCA12c.4615G>T (p.Glu1539Ter)
c.3661G>T (p.Glu1221Ter)
n.4915G>T
c.4624G>T (p.Glu1542Ter)
n.5113G>T
2g.214980608C=CA1327161020ABCA12c.4615G= (p.Glu1539=)
c.3661G= (p.Glu1221=)
n.4915G=
c.4624G= (p.Glu1542=)
n.5113G=
2g.214980608C>GCA350461167ABCA12c.4615G>C (p.Glu1539Gln)
c.3661G>C (p.Glu1221Gln)
n.4915G>C
c.4624G>C (p.Glu1542Gln)
n.5113G>C
2g.214980608C>TCA252478ABCA12c.4615G>A (p.Glu1539Lys)
c.3661G>A (p.Glu1221Lys)
n.4915G>A
c.4624G>A (p.Glu1542Lys)
n.5113G>A
 ClinVar dbSNP gnomAD v4
2g.214980609G>ACA2091433ABCA12c.4614C>T (p.Asp1538=)
c.3660C>T (p.Asp1220=)
n.4914C>T
c.4623C>T (p.Asp1541=)
n.5112C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214980609G>CCA350461171ABCA12c.4614C>G (p.Asp1538Glu)
c.3660C>G (p.Asp1220Glu)
n.4914C>G
c.4623C>G (p.Asp1541Glu)
n.5112C>G
2g.214980609G=CA1327161021ABCA12c.4614C= (p.Asp1538=)
c.3660C= (p.Asp1220=)
n.4914C=
c.4623C= (p.Asp1541=)
n.5112C=
2g.214980609G>TCA350461173ABCA12c.4614C>A (p.Asp1538Glu)
c.3660C>A (p.Asp1220Glu)
n.4914C>A
c.4623C>A (p.Asp1541Glu)
n.5112C>A
2g.214980610T>ACA350461179ABCA12c.4613A>T (p.Asp1538Val)
c.3659A>T (p.Asp1220Val)
n.4913A>T
c.4622A>T (p.Asp1541Val)
n.5111A>T
 COSMIC COSMIC
2g.214980610T>CCA350461176ABCA12c.4613A>G (p.Asp1538Gly)
c.3659A>G (p.Asp1220Gly)
n.4913A>G
c.4622A>G (p.Asp1541Gly)
n.5111A>G
2g.214980610T>GCA350461177ABCA12c.4613A>C (p.Asp1538Ala)
c.3659A>C (p.Asp1220Ala)
n.4913A>C
c.4622A>C (p.Asp1541Ala)
n.5111A>C
2g.214980611C>ACA350461180ABCA12c.4612G>T (p.Asp1538Tyr)
c.3658G>T (p.Asp1220Tyr)
n.4912G>T
c.4621G>T (p.Asp1541Tyr)
n.5110G>T
2g.214980611C>GCA350461183ABCA12c.4612G>C (p.Asp1538His)
c.3658G>C (p.Asp1220His)
n.4912G>C
c.4621G>C (p.Asp1541His)
n.5110G>C
2g.214980611C>TCA350461185ABCA12c.4612G>A (p.Asp1538Asn)
c.3658G>A (p.Asp1220Asn)
n.4912G>A
c.4621G>A (p.Asp1541Asn)
n.5110G>A

Number of alleles fetched