Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched