Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214980509A>CCA350460744ABCA12c.4714T>G (p.Tyr1572Asp)
c.3760T>G (p.Tyr1254Asp)
n.5014T>G
c.4723T>G (p.Tyr1575Asp)
n.5212T>G
2g.214980509A>GCA350460746ABCA12c.4714T>C (p.Tyr1572His)
c.3760T>C (p.Tyr1254His)
n.5014T>C
c.4723T>C (p.Tyr1575His)
n.5212T>C
 gnomAD v4
2g.214980509A>TCA350460747ABCA12c.4714T>A (p.Tyr1572Asn)
c.3760T>A (p.Tyr1254Asn)
n.5014T>A
c.4723T>A (p.Tyr1575Asn)
n.5212T>A
2g.214980510C>ACA431148641ABCA12c.4713G>T (p.Gly1571=)
c.3759G>T (p.Gly1253=)
n.5013G>T
c.4722G>T (p.Gly1574=)
n.5211G>T
2g.214980510C=CA1327160979ABCA12c.4713G= (p.Gly1571=)
c.3759G= (p.Gly1253=)
n.5013G=
c.4722G= (p.Gly1574=)
n.5211G=
2g.214980510C>GCA2091410ABCA12c.4713G>C (p.Gly1571=)
c.3759G>C (p.Gly1253=)
n.5013G>C
c.4722G>C (p.Gly1574=)
n.5211G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980510C>TCA431148645ABCA12c.4713G>A (p.Gly1571=)
c.3759G>A (p.Gly1253=)
n.5013G>A
c.4722G>A (p.Gly1574=)
n.5211G>A
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

Number of alleles fetched