Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214978796A>TCA2662978130ABCA12c.4977+8T>A (n.4977+8T>A)
c.4023+8T>A (n.4023+8T>A)
n.5277+8T>A
c.4986+8T>A (n.4986+8T>A)
n.5475+8T>A
 gnomAD v4
2g.214978797G>ACA2662978131ABCA12c.4977+7C>T (n.4977+7C>T)
c.4023+7C>T (n.4023+7C>T)
n.5277+7C>T
c.4986+7C>T (n.4986+7C>T)
n.5475+7C>T
 gnomAD v4
2g.214978797G>TCA2662978132ABCA12c.4977+7C>A (n.4977+7C>A)
c.4023+7C>A (n.4023+7C>A)
n.5277+7C>A
c.4986+7C>A (n.4986+7C>A)
n.5475+7C>A
 gnomAD v4
2g.214978798G>ACA2091338ABCA12c.4977+6C>T (n.4977+6C>T)
c.4023+6C>T (n.4023+6C>T)
n.5277+6C>T
c.4986+6C>T (n.4986+6C>T)
n.5475+6C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978798G=CA1327160304ABCA12c.4977+6C= (n.4977+6C=)
c.4023+6C= (n.4023+6C=)
n.5277+6C=
c.4986+6C= (n.4986+6C=)
n.5475+6C=
2g.214978800A>GCA2662978136ABCA12c.4977+4T>C (n.4977+4T>C)
c.4023+4T>C (n.4023+4T>C)
n.5277+4T>C
c.4986+4T>C (n.4986+4T>C)
n.5475+4T>C
 gnomAD v4
2g.214978802A>CCA350459416ABCA12c.4977+2T>G (n.4977+2T>G)
c.4023+2T>G (n.4023+2T>G)
n.5277+2T>G
c.4986+2T>G (n.4986+2T>G)
n.5475+2T>G
2g.214978802A>GCA350459418ABCA12c.4977+2T>C (n.4977+2T>C)
c.4023+2T>C (n.4023+2T>C)
n.5277+2T>C
c.4986+2T>C (n.4986+2T>C)
n.5475+2T>C
2g.214978802A>TCA350459420ABCA12c.4977+2T>A (n.4977+2T>A)
c.4023+2T>A (n.4023+2T>A)
n.5277+2T>A
c.4986+2T>A (n.4986+2T>A)
n.5475+2T>A
2g.214978803C>ACA350459425ABCA12c.4977+1G>T (n.4977+1G>T)
c.4023+1G>T (n.4023+1G>T)
n.5277+1G>T
c.4986+1G>T (n.4986+1G>T)
n.5475+1G>T
2g.214978803C>GCA350459424ABCA12c.4977+1G>C (n.4977+1G>C)
c.4023+1G>C (n.4023+1G>C)
n.5277+1G>C
c.4986+1G>C (n.4986+1G>C)
n.5475+1G>C
2g.214978803C>TCA350459422ABCA12c.4977+1G>A (n.4977+1G>A)
c.4023+1G>A (n.4023+1G>A)
n.5277+1G>A
c.4986+1G>A (n.4986+1G>A)
n.5475+1G>A
 COSMIC COSMIC
2g.214978804C>ACA350459427ABCA12c.4977G>T (p.Glu1659Asp)
c.4023G>T (p.Glu1341Asp)
n.5277G>T
c.4986G>T (p.Glu1662Asp)
n.5475G>T
2g.214978804C=CA1327160305ABCA12c.4977G= (p.Glu1659=)
c.4023G= (p.Glu1341=)
n.5277G=
c.4986G= (p.Glu1662=)
n.5475G=
2g.214978804C>GCA350459429ABCA12c.4977G>C (p.Glu1659Asp)
c.4023G>C (p.Glu1341Asp)
n.5277G>C
c.4986G>C (p.Glu1662Asp)
n.5475G>C
2g.214978804C>TCA431146918ABCA12c.4977G>A (p.Glu1659=)
c.4023G>A (p.Glu1341=)
n.5277G>A
c.4986G>A (p.Glu1662=)
n.5475G>A
 dbSNP gnomAD v4
2g.214978805T>ACA350459432ABCA12c.4976A>T (p.Glu1659Val)
c.4022A>T (p.Glu1341Val)
n.5276A>T
c.4985A>T (p.Glu1662Val)
n.5474A>T
2g.214978805T>CCA350459435ABCA12c.4976A>G (p.Glu1659Gly)
c.4022A>G (p.Glu1341Gly)
n.5276A>G
c.4985A>G (p.Glu1662Gly)
n.5474A>G
2g.214978805T>GCA350459437ABCA12c.4976A>C (p.Glu1659Ala)
c.4022A>C (p.Glu1341Ala)
n.5276A>C
c.4985A>C (p.Glu1662Ala)
n.5474A>C
2g.214978806C>ACA350459439ABCA12c.4975G>T (p.Glu1659Ter)
c.4021G>T (p.Glu1341Ter)
n.5275G>T
c.4984G>T (p.Glu1662Ter)
n.5473G>T
2g.214978806C>GCA350459441ABCA12c.4975G>C (p.Glu1659Gln)
c.4021G>C (p.Glu1341Gln)
n.5275G>C
c.4984G>C (p.Glu1662Gln)
n.5473G>C
2g.214978806C>TCA350459443ABCA12c.4975G>A (p.Glu1659Lys)
c.4021G>A (p.Glu1341Lys)
n.5275G>A
c.4984G>A (p.Glu1662Lys)
n.5473G>A
2g.214978807C>ACA350459445ABCA12c.4974G>T (p.Glu1658Asp)
c.4020G>T (p.Glu1340Asp)
n.5274G>T
c.4983G>T (p.Glu1661Asp)
n.5472G>T
2g.214978807C>GCA350459447ABCA12c.4974G>C (p.Glu1658Asp)
c.4020G>C (p.Glu1340Asp)
n.5274G>C
c.4983G>C (p.Glu1661Asp)
n.5472G>C
2g.214978807C>TCA431146930ABCA12c.4974G>A (p.Glu1658=)
c.4020G>A (p.Glu1340=)
n.5274G>A
c.4983G>A (p.Glu1661=)
n.5472G>A
2g.214978808T>ACA350459451ABCA12c.4973A>T (p.Glu1658Val)
c.4019A>T (p.Glu1340Val)
n.5273A>T
c.4982A>T (p.Glu1661Val)
n.5471A>T
2g.214978808T>CCA350459453ABCA12c.4973A>G (p.Glu1658Gly)
c.4019A>G (p.Glu1340Gly)
n.5273A>G
c.4982A>G (p.Glu1661Gly)
n.5471A>G
2g.214978808T>GCA350459455ABCA12c.4973A>C (p.Glu1658Ala)
c.4019A>C (p.Glu1340Ala)
n.5273A>C
c.4982A>C (p.Glu1661Ala)
n.5471A>C
2g.214978809C>ACA350459460ABCA12c.4972G>T (p.Glu1658Ter)
c.4018G>T (p.Glu1340Ter)
n.5272G>T
c.4981G>T (p.Glu1661Ter)
n.5470G>T
2g.214978809C=CA1327160306ABCA12c.4972G= (p.Glu1658=)
c.4018G= (p.Glu1340=)
n.5272G=
c.4981G= (p.Glu1661=)
n.5470G=
2g.214978809C>GCA350459462ABCA12c.4972G>C (p.Glu1658Gln)
c.4018G>C (p.Glu1340Gln)
n.5272G>C
c.4981G>C (p.Glu1661Gln)
n.5470G>C
 dbSNP
2g.214978809C>TCA350459458ABCA12c.4972G>A (p.Glu1658Lys)
c.4018G>A (p.Glu1340Lys)
n.5272G>A
c.4981G>A (p.Glu1661Lys)
n.5470G>A
 dbSNP
2g.214978810C>ACA431146942ABCA12c.4971G>T (p.Val1657=)
c.4017G>T (p.Val1339=)
n.5271G>T
c.4980G>T (p.Val1660=)
n.5469G>T
2g.214978810C=CA1327160307ABCA12c.4971G= (p.Val1657=)
c.4017G= (p.Val1339=)
n.5271G=
c.4980G= (p.Val1660=)
n.5469G=
2g.214978810C>GCA431146944ABCA12c.4971G>C (p.Val1657=)
c.4017G>C (p.Val1339=)
n.5271G>C
c.4980G>C (p.Val1660=)
n.5469G>C
 dbSNP gnomAD v2 gnomAD v4
2g.214978810C>TCA431146945ABCA12c.4971G>A (p.Val1657=)
c.4017G>A (p.Val1339=)
n.5271G>A
c.4980G>A (p.Val1660=)
n.5469G>A
2g.214978811A>CCA350459465ABCA12c.4970T>G (p.Val1657Gly)
c.4016T>G (p.Val1339Gly)
n.5270T>G
c.4979T>G (p.Val1660Gly)
n.5468T>G
2g.214978811A>GCA350459467ABCA12c.4970T>C (p.Val1657Ala)
c.4016T>C (p.Val1339Ala)
n.5270T>C
c.4979T>C (p.Val1660Ala)
n.5468T>C
2g.214978811A>TCA350459469ABCA12c.4970T>A (p.Val1657Glu)
c.4016T>A (p.Val1339Glu)
n.5270T>A
c.4979T>A (p.Val1660Glu)
n.5468T>A
2g.214978812C>ACA350459471ABCA12c.4969G>T (p.Val1657Leu)
c.4015G>T (p.Val1339Leu)
n.5269G>T
c.4978G>T (p.Val1660Leu)
n.5467G>T
2g.214978812C=CA1327160308ABCA12c.4969G= (p.Val1657=)
c.4015G= (p.Val1339=)
n.5269G=
c.4978G= (p.Val1660=)
n.5467G=
2g.214978812C>GCA350459473ABCA12c.4969G>C (p.Val1657Leu)
c.4015G>C (p.Val1339Leu)
n.5269G>C
c.4978G>C (p.Val1660Leu)
n.5467G>C
2g.214978812C>TCA2091339ABCA12c.4969G>A (p.Val1657Met)
c.4015G>A (p.Val1339Met)
n.5269G>A
c.4978G>A (p.Val1660Met)
n.5467G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978813G>ACA2091340ABCA12c.4968C>T (p.Thr1656=)
c.4014C>T (p.Thr1338=)
n.5268C>T
c.4977C>T (p.Thr1659=)
n.5466C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214978813G>CCA431146955ABCA12c.4968C>G (p.Thr1656=)
c.4014C>G (p.Thr1338=)
n.5268C>G
c.4977C>G (p.Thr1659=)
n.5466C>G
2g.214978813G=CA1327160309ABCA12c.4968C= (p.Thr1656=)
c.4014C= (p.Thr1338=)
n.5268C=
c.4977C= (p.Thr1659=)
n.5466C=
2g.214978813G>TCA431146964ABCA12c.4968C>A (p.Thr1656=)
c.4014C>A (p.Thr1338=)
n.5268C>A
c.4977C>A (p.Thr1659=)
n.5466C>A
2g.214978814G>ACA2091341ABCA12c.4967C>T (p.Thr1656Ile)
c.4013C>T (p.Thr1338Ile)
n.5267C>T
c.4976C>T (p.Thr1659Ile)
n.5465C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978814G>CCA350459477ABCA12c.4967C>G (p.Thr1656Ser)
c.4013C>G (p.Thr1338Ser)
n.5267C>G
c.4976C>G (p.Thr1659Ser)
n.5465C>G
2g.214978814G=CA1327160310ABCA12c.4967C= (p.Thr1656=)
c.4013C= (p.Thr1338=)
n.5267C=
c.4976C= (p.Thr1659=)
n.5465C=
2g.214978814G>TCA350459480ABCA12c.4967C>A (p.Thr1656Asn)
c.4013C>A (p.Thr1338Asn)
n.5267C>A
c.4976C>A (p.Thr1659Asn)
n.5465C>A
2g.214978815T>ACA350459483ABCA12c.4966A>T (p.Thr1656Ser)
c.4012A>T (p.Thr1338Ser)
n.5266A>T
c.4975A>T (p.Thr1659Ser)
n.5464A>T
2g.214978815T>CCA350459486ABCA12c.4966A>G (p.Thr1656Ala)
c.4012A>G (p.Thr1338Ala)
n.5266A>G
c.4975A>G (p.Thr1659Ala)
n.5464A>G
2g.214978815T>GCA350459488ABCA12c.4966A>C (p.Thr1656Pro)
c.4012A>C (p.Thr1338Pro)
n.5266A>C
c.4975A>C (p.Thr1659Pro)
n.5464A>C
2g.214978816G>ACA431146968ABCA12c.4965C>T (p.Thr1655=)
c.4011C>T (p.Thr1337=)
n.5265C>T
c.4974C>T (p.Thr1658=)
n.5463C>T
 gnomAD v4
2g.214978816G>CCA431146971ABCA12c.4965C>G (p.Thr1655=)
c.4011C>G (p.Thr1337=)
n.5265C>G
c.4974C>G (p.Thr1658=)
n.5463C>G
2g.214978816G>TCA431146978ABCA12c.4965C>A (p.Thr1655=)
c.4011C>A (p.Thr1337=)
n.5265C>A
c.4974C>A (p.Thr1658=)
n.5463C>A
2g.214978817G>ACA350459491ABCA12c.4964C>T (p.Thr1655Ile)
c.4010C>T (p.Thr1337Ile)
n.5264C>T
c.4973C>T (p.Thr1658Ile)
n.5462C>T
2g.214978817G>CCA350459495ABCA12c.4964C>G (p.Thr1655Ser)
c.4010C>G (p.Thr1337Ser)
n.5264C>G
c.4973C>G (p.Thr1658Ser)
n.5462C>G
2g.214978817G>TCA350459493ABCA12c.4964C>A (p.Thr1655Asn)
c.4010C>A (p.Thr1337Asn)
n.5264C>A
c.4973C>A (p.Thr1658Asn)
n.5462C>A
2g.214978818T>ACA350459498ABCA12c.4963A>T (p.Thr1655Ser)
c.4009A>T (p.Thr1337Ser)
n.5263A>T
c.4972A>T (p.Thr1658Ser)
n.5461A>T
2g.214978818T>CCA350459500ABCA12c.4963A>G (p.Thr1655Ala)
c.4009A>G (p.Thr1337Ala)
n.5263A>G
c.4972A>G (p.Thr1658Ala)
n.5461A>G
2g.214978818T>GCA350459502ABCA12c.4963A>C (p.Thr1655Pro)
c.4009A>C (p.Thr1337Pro)
n.5263A>C
c.4972A>C (p.Thr1658Pro)
n.5461A>C
2g.214978819A>CCA350459504ABCA12c.4962T>G (p.Asp1654Glu)
c.4008T>G (p.Asp1336Glu)
n.5262T>G
c.4971T>G (p.Asp1657Glu)
n.5460T>G
2g.214978819A>GCA431146993ABCA12c.4962T>C (p.Asp1654=)
c.4008T>C (p.Asp1336=)
n.5262T>C
c.4971T>C (p.Asp1657=)
n.5460T>C
2g.214978819A>TCA350459506ABCA12c.4962T>A (p.Asp1654Glu)
c.4008T>A (p.Asp1336Glu)
n.5262T>A
c.4971T>A (p.Asp1657Glu)
n.5460T>A
2g.214978820T>ACA350459509ABCA12c.4961A>T (p.Asp1654Val)
c.4007A>T (p.Asp1336Val)
n.5261A>T
c.4970A>T (p.Asp1657Val)
n.5459A>T
2g.214978820T>CCA350459511ABCA12c.4961A>G (p.Asp1654Gly)
c.4007A>G (p.Asp1336Gly)
n.5261A>G
c.4970A>G (p.Asp1657Gly)
n.5459A>G
 gnomAD v4
2g.214978820T>GCA350459513ABCA12c.4961A>C (p.Asp1654Ala)
c.4007A>C (p.Asp1336Ala)
n.5261A>C
c.4970A>C (p.Asp1657Ala)
n.5459A>C
2g.214978821C>ACA350459516ABCA12c.4960G>T (p.Asp1654Tyr)
c.4006G>T (p.Asp1336Tyr)
n.5260G>T
c.4969G>T (p.Asp1657Tyr)
n.5458G>T
2g.214978821C>GCA350459518ABCA12c.4960G>C (p.Asp1654His)
c.4006G>C (p.Asp1336His)
n.5260G>C
c.4969G>C (p.Asp1657His)
n.5458G>C
2g.214978821C>TCA350459520ABCA12c.4960G>A (p.Asp1654Asn)
c.4006G>A (p.Asp1336Asn)
n.5260G>A
c.4969G>A (p.Asp1657Asn)
n.5458G>A
2g.214978822T>ACA431147006ABCA12c.4959A>T (p.Ser1653=)
c.4005A>T (p.Ser1335=)
n.5259A>T
c.4968A>T (p.Ser1656=)
n.5457A>T
2g.214978822T>CCA431147008ABCA12c.4959A>G (p.Ser1653=)
c.4005A>G (p.Ser1335=)
n.5259A>G
c.4968A>G (p.Ser1656=)
n.5457A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214978822T>GCA431147010ABCA12c.4959A>C (p.Ser1653=)
c.4005A>C (p.Ser1335=)
n.5259A>C
c.4968A>C (p.Ser1656=)
n.5457A>C
2g.214978822T=CA1327160311ABCA12c.4959A= (p.Ser1653=)
c.4005A= (p.Ser1335=)
n.5259A=
c.4968A= (p.Ser1656=)
n.5457A=
2g.214978823G>ACA350459525ABCA12c.4958C>T (p.Ser1653Leu)
c.4004C>T (p.Ser1335Leu)
n.5258C>T
c.4967C>T (p.Ser1656Leu)
n.5456C>T
2g.214978823G>CCA350459527ABCA12c.4958C>G (p.Ser1653Ter)
c.4004C>G (p.Ser1335Ter)
n.5258C>G
c.4967C>G (p.Ser1656Ter)
n.5456C>G
2g.214978823G>TCA350459523ABCA12c.4958C>A (p.Ser1653Ter)
c.4004C>A (p.Ser1335Ter)
n.5258C>A
c.4967C>A (p.Ser1656Ter)
n.5456C>A
2g.214978824A>CCA350459528ABCA12c.4957T>G (p.Ser1653Ala)
c.4003T>G (p.Ser1335Ala)
n.5257T>G
c.4966T>G (p.Ser1656Ala)
n.5455T>G
2g.214978824A>GCA350459532ABCA12c.4957T>C (p.Ser1653Pro)
c.4003T>C (p.Ser1335Pro)
n.5257T>C
c.4966T>C (p.Ser1656Pro)
n.5455T>C
2g.214978824A>TCA350459534ABCA12c.4957T>A (p.Ser1653Thr)
c.4003T>A (p.Ser1335Thr)
n.5257T>A
c.4966T>A (p.Ser1656Thr)
n.5455T>A
2g.214978825A>CCA350459537ABCA12c.4956T>G (p.Ile1652Met)
c.4002T>G (p.Ile1334Met)
n.5256T>G
c.4965T>G (p.Ile1655Met)
n.5454T>G
2g.214978825A>GCA431147025ABCA12c.4956T>C (p.Ile1652=)
c.4002T>C (p.Ile1334=)
n.5256T>C
c.4965T>C (p.Ile1655=)
n.5454T>C
2g.214978825A>TCA431147023ABCA12c.4956T>A (p.Ile1652=)
c.4002T>A (p.Ile1334=)
n.5256T>A
c.4965T>A (p.Ile1655=)
n.5454T>A
2g.214978826A>CCA350459539ABCA12c.4955T>G (p.Ile1652Ser)
c.4001T>G (p.Ile1334Ser)
n.5255T>G
c.4964T>G (p.Ile1655Ser)
n.5453T>G
2g.214978826A>GCA350459540ABCA12c.4955T>C (p.Ile1652Thr)
c.4001T>C (p.Ile1334Thr)
n.5255T>C
c.4964T>C (p.Ile1655Thr)
n.5453T>C
 gnomAD v4
2g.214978826A>TCA350459542ABCA12c.4955T>A (p.Ile1652Asn)
c.4001T>A (p.Ile1334Asn)
n.5255T>A
c.4964T>A (p.Ile1655Asn)
n.5453T>A
2g.214978827T>ACA350459545ABCA12c.4954A>T (p.Ile1652Phe)
c.4000A>T (p.Ile1334Phe)
n.5254A>T
c.4963A>T (p.Ile1655Phe)
n.5452A>T
2g.214978827T>CCA350459547ABCA12c.4954A>G (p.Ile1652Val)
c.4000A>G (p.Ile1334Val)
n.5254A>G
c.4963A>G (p.Ile1655Val)
n.5452A>G
2g.214978827T>GCA350459549ABCA12c.4954A>C (p.Ile1652Leu)
c.4000A>C (p.Ile1334Leu)
n.5254A>C
c.4963A>C (p.Ile1655Leu)
n.5452A>C
2g.214978828G>ACA431147041ABCA12c.4953C>T (p.Gly1651=)
c.3999C>T (p.Gly1333=)
n.5253C>T
c.4962C>T (p.Gly1654=)
n.5451C>T
2g.214978828G>CCA431147044ABCA12c.4953C>G (p.Gly1651=)
c.3999C>G (p.Gly1333=)
n.5253C>G
c.4962C>G (p.Gly1654=)
n.5451C>G
2g.214978828G>TCA431147047ABCA12c.4953C>A (p.Gly1651=)
c.3999C>A (p.Gly1333=)
n.5253C>A
c.4962C>A (p.Gly1654=)
n.5451C>A
2g.214978829C>ACA350459550ABCA12c.4952G>T (p.Gly1651Val)
c.3998G>T (p.Gly1333Val)
n.5252G>T
c.4961G>T (p.Gly1654Val)
n.5450G>T
2g.214978829C=CA1327160312ABCA12c.4952G= (p.Gly1651=)
c.3998G= (p.Gly1333=)
n.5252G=
c.4961G= (p.Gly1654=)
n.5450G=
2g.214978829C>GCA350459553ABCA12c.4952G>C (p.Gly1651Ala)
c.3998G>C (p.Gly1333Ala)
n.5252G>C
c.4961G>C (p.Gly1654Ala)
n.5450G>C
2g.214978829C>TCA350459555ABCA12c.4952G>A (p.Gly1651Asp)
c.3998G>A (p.Gly1333Asp)
n.5252G>A
c.4961G>A (p.Gly1654Asp)
n.5450G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214978830C>ACA350459561ABCA12c.4951G>T (p.Gly1651Cys)
c.3997G>T (p.Gly1333Cys)
n.5251G>T
c.4960G>T (p.Gly1654Cys)
n.5449G>T
2g.214978830C=CA1327160313ABCA12c.4951G= (p.Gly1651=)
c.3997G= (p.Gly1333=)
n.5251G=
c.4960G= (p.Gly1654=)
n.5449G=
2g.214978830C>GCA350459559ABCA12c.4951G>C (p.Gly1651Arg)
c.3997G>C (p.Gly1333Arg)
n.5251G>C
c.4960G>C (p.Gly1654Arg)
n.5449G>C
2g.214978830C>TCA252476ABCA12c.4951G>A (p.Gly1651Ser)
c.3997G>A (p.Gly1333Ser)
n.5251G>A
c.4960G>A (p.Gly1654Ser)
n.5449G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978831G>ACA2091342ABCA12c.4950C>T (p.Tyr1650=)
c.3996C>T (p.Tyr1332=)
n.5250C>T
c.4959C>T (p.Tyr1653=)
n.5448C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.214978831G>CCA350459564ABCA12c.4950C>G (p.Tyr1650Ter)
c.3996C>G (p.Tyr1332Ter)
n.5250C>G
c.4959C>G (p.Tyr1653Ter)
n.5448C>G
2g.214978831G=CA1327160314ABCA12c.4950C= (p.Tyr1650=)
c.3996C= (p.Tyr1332=)
n.5250C=
c.4959C= (p.Tyr1653=)
n.5448C=
2g.214978831G>TCA350459566ABCA12c.4950C>A (p.Tyr1650Ter)
c.3996C>A (p.Tyr1332Ter)
n.5250C>A
c.4959C>A (p.Tyr1653Ter)
n.5448C>A
2g.214978832T>ACA350459569ABCA12c.4949A>T (p.Tyr1650Phe)
c.3995A>T (p.Tyr1332Phe)
n.5249A>T
c.4958A>T (p.Tyr1653Phe)
n.5447A>T
2g.214978832T>CCA2091343ABCA12c.4949A>G (p.Tyr1650Cys)
c.3995A>G (p.Tyr1332Cys)
n.5249A>G
c.4958A>G (p.Tyr1653Cys)
n.5447A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978832T>GCA350459572ABCA12c.4949A>C (p.Tyr1650Ser)
c.3995A>C (p.Tyr1332Ser)
n.5249A>C
c.4958A>C (p.Tyr1653Ser)
n.5447A>C
2g.214978832T=CA1327160315ABCA12c.4949A= (p.Tyr1650=)
c.3995A= (p.Tyr1332=)
n.5249A=
c.4958A= (p.Tyr1653=)
n.5447A=
2g.214978833A>CCA350459575ABCA12c.4948T>G (p.Tyr1650Asp)
c.3994T>G (p.Tyr1332Asp)
n.5248T>G
c.4957T>G (p.Tyr1653Asp)
n.5446T>G
2g.214978833A>GCA350459577ABCA12c.4948T>C (p.Tyr1650His)
c.3994T>C (p.Tyr1332His)
n.5248T>C
c.4957T>C (p.Tyr1653His)
n.5446T>C
2g.214978833A>TCA350459580ABCA12c.4948T>A (p.Tyr1650Asn)
c.3994T>A (p.Tyr1332Asn)
n.5248T>A
c.4957T>A (p.Tyr1653Asn)
n.5446T>A
2g.214978834G>ACA431147079ABCA12c.4947C>T (p.Cys1649=)
c.3993C>T (p.Cys1331=)
n.5247C>T
c.4956C>T (p.Cys1652=)
n.5445C>T
 ClinVar gnomAD v4
2g.214978834G>CCA350459582ABCA12c.4947C>G (p.Cys1649Trp)
c.3993C>G (p.Cys1331Trp)
n.5247C>G
c.4956C>G (p.Cys1652Trp)
n.5445C>G
2g.214978834G>TCA350459583ABCA12c.4947C>A (p.Cys1649Ter)
c.3993C>A (p.Cys1331Ter)
n.5247C>A
c.4956C>A (p.Cys1652Ter)
n.5445C>A
2g.214978835C>ACA350459585ABCA12c.4946G>T (p.Cys1649Phe)
c.3992G>T (p.Cys1331Phe)
n.5246G>T
c.4955G>T (p.Cys1652Phe)
n.5444G>T
2g.214978835C=CA1327160316ABCA12c.4946G= (p.Cys1649=)
c.3992G= (p.Cys1331=)
n.5246G=
c.4955G= (p.Cys1652=)
n.5444G=
2g.214978835C>GCA350459587ABCA12c.4946G>C (p.Cys1649Ser)
c.3992G>C (p.Cys1331Ser)
n.5246G>C
c.4955G>C (p.Cys1652Ser)
n.5444G>C
2g.214978835C>TCA2091344ABCA12c.4946G>A (p.Cys1649Tyr)
c.3992G>A (p.Cys1331Tyr)
n.5246G>A
c.4955G>A (p.Cys1652Tyr)
n.5444G>A
 dbSNP ExAC
2g.214978836A=CA1327160317ABCA12c.4945T= (p.Cys1649=)
c.3991T= (p.Cys1331=)
n.5245T=
c.4954T= (p.Cys1652=)
n.5443T=
2g.214978836A>CCA350459592ABCA12c.4945T>G (p.Cys1649Gly)
c.3991T>G (p.Cys1331Gly)
n.5245T>G
c.4954T>G (p.Cys1652Gly)
n.5443T>G
2g.214978836A>GCA350459593ABCA12c.4945T>C (p.Cys1649Arg)
c.3991T>C (p.Cys1331Arg)
n.5245T>C
c.4954T>C (p.Cys1652Arg)
n.5443T>C
2g.214978836A>TCA350459591ABCA12c.4945T>A (p.Cys1649Ser)
c.3991T>A (p.Cys1331Ser)
n.5245T>A
c.4954T>A (p.Cys1652Ser)
n.5443T>A
 dbSNP
2g.214978837C>ACA431147099ABCA12c.4944G>T (p.Gly1648=)
c.3990G>T (p.Gly1330=)
n.5244G>T
c.4953G>T (p.Gly1651=)
n.5442G>T
2g.214978837C>GCA431147102ABCA12c.4944G>C (p.Gly1648=)
c.3990G>C (p.Gly1330=)
n.5244G>C
c.4953G>C (p.Gly1651=)
n.5442G>C
2g.214978837C>TCA431147105ABCA12c.4944G>A (p.Gly1648=)
c.3990G>A (p.Gly1330=)
n.5244G>A
c.4953G>A (p.Gly1651=)
n.5442G>A
2g.214978838C>ACA64813546ABCA12c.4943G>T (p.Gly1648Val)
c.3989G>T (p.Gly1330Val)
n.5243G>T
c.4952G>T (p.Gly1651Val)
n.5441G>T
 dbSNP gnomAD v2 gnomAD v4
2g.214978838C=CA1327160318ABCA12c.4943G= (p.Gly1648=)
c.3989G= (p.Gly1330=)
n.5243G=
c.4952G= (p.Gly1651=)
n.5441G=
2g.214978838C>GCA350459597ABCA12c.4943G>C (p.Gly1648Ala)
c.3989G>C (p.Gly1330Ala)
n.5243G>C
c.4952G>C (p.Gly1651Ala)
n.5441G>C
2g.214978838C>TCA350459598ABCA12c.4943G>A (p.Gly1648Glu)
c.3989G>A (p.Gly1330Glu)
n.5243G>A
c.4952G>A (p.Gly1651Glu)
n.5441G>A
 COSMIC COSMIC
2g.214978839C>ACA350459600ABCA12c.4942G>T (p.Gly1648Trp)
c.3988G>T (p.Gly1330Trp)
n.5242G>T
c.4951G>T (p.Gly1651Trp)
n.5440G>T
2g.214978839C=CA1327160319ABCA12c.4942G= (p.Gly1648=)
c.3988G= (p.Gly1330=)
n.5242G=
c.4951G= (p.Gly1651=)
n.5440G=
2g.214978839C>GCA350459602ABCA12c.4942G>C (p.Gly1648Arg)
c.3988G>C (p.Gly1330Arg)
n.5242G>C
c.4951G>C (p.Gly1651Arg)
n.5440G>C
2g.214978839C>TCA2091345ABCA12c.4942G>A (p.Gly1648Arg)
c.3988G>A (p.Gly1330Arg)
n.5242G>A
c.4951G>A (p.Gly1651Arg)
n.5440G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978840G>ACA2091346ABCA12c.4941C>T (p.Ile1647=)
c.3987C>T (p.Ile1329=)
n.5241C>T
c.4950C>T (p.Ile1650=)
n.5439C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.214978840G>CCA350459607ABCA12c.4941C>G (p.Ile1647Met)
c.3987C>G (p.Ile1329Met)
n.5241C>G
c.4950C>G (p.Ile1650Met)
n.5439C>G
2g.214978840G=CA1327160320ABCA12c.4941C= (p.Ile1647=)
c.3987C= (p.Ile1329=)
n.5241C=
c.4950C= (p.Ile1650=)
n.5439C=
2g.214978840G>TCA431147118ABCA12c.4941C>A (p.Ile1647=)
c.3987C>A (p.Ile1329=)
n.5241C>A
c.4950C>A (p.Ile1650=)
n.5439C>A
2g.214978841A>CCA350459610ABCA12c.4940T>G (p.Ile1647Ser)
c.3986T>G (p.Ile1329Ser)
n.5240T>G
c.4949T>G (p.Ile1650Ser)
n.5438T>G
 COSMIC
2g.214978841A>GCA350459612ABCA12c.4940T>C (p.Ile1647Thr)
c.3986T>C (p.Ile1329Thr)
n.5240T>C
c.4949T>C (p.Ile1650Thr)
n.5438T>C
2g.214978841A>TCA350459614ABCA12c.4940T>A (p.Ile1647Asn)
c.3986T>A (p.Ile1329Asn)
n.5240T>A
c.4949T>A (p.Ile1650Asn)
n.5438T>A
2g.214978842T>ACA350459621ABCA12c.4939A>T (p.Ile1647Phe)
c.3985A>T (p.Ile1329Phe)
n.5239A>T
c.4948A>T (p.Ile1650Phe)
n.5437A>T
 dbSNP gnomAD v2 gnomAD v4
2g.214978842T>CCA350459626ABCA12c.4939A>G (p.Ile1647Val)
c.3985A>G (p.Ile1329Val)
n.5239A>G
c.4948A>G (p.Ile1650Val)
n.5437A>G
2g.214978842T>GCA350459627ABCA12c.4939A>C (p.Ile1647Leu)
c.3985A>C (p.Ile1329Leu)
n.5239A>C
c.4948A>C (p.Ile1650Leu)
n.5437A>C
2g.214978842T=CA1327160321ABCA12c.4939A= (p.Ile1647=)
c.3985A= (p.Ile1329=)
n.5239A=
c.4948A= (p.Ile1650=)
n.5437A=
2g.214978843G>ACA431147131ABCA12c.4938C>T (p.Asn1646=)
c.3984C>T (p.Asn1328=)
n.5238C>T
c.4947C>T (p.Asn1649=)
n.5436C>T
 dbSNP gnomAD v4
2g.214978843G>CCA350459630ABCA12c.4938C>G (p.Asn1646Lys)
c.3984C>G (p.Asn1328Lys)
n.5238C>G
c.4947C>G (p.Asn1649Lys)
n.5436C>G
2g.214978843G=CA1327160322ABCA12c.4938C= (p.Asn1646=)
c.3984C= (p.Asn1328=)
n.5238C=
c.4947C= (p.Asn1649=)
n.5436C=
2g.214978843G>TCA350459631ABCA12c.4938C>A (p.Asn1646Lys)
c.3984C>A (p.Asn1328Lys)
n.5238C>A
c.4947C>A (p.Asn1649Lys)
n.5436C>A
2g.214978844T>ACA350459634ABCA12c.4937A>T (p.Asn1646Ile)
c.3983A>T (p.Asn1328Ile)
n.5237A>T
c.4946A>T (p.Asn1649Ile)
n.5435A>T
2g.214978844T>CCA350459636ABCA12c.4937A>G (p.Asn1646Ser)
c.3983A>G (p.Asn1328Ser)
n.5237A>G
c.4946A>G (p.Asn1649Ser)
n.5435A>G
2g.214978844T>GCA350459637ABCA12c.4937A>C (p.Asn1646Thr)
c.3983A>C (p.Asn1328Thr)
n.5237A>C
c.4946A>C (p.Asn1649Thr)
n.5435A>C
2g.214978845T>ACA350459640ABCA12c.4936A>T (p.Asn1646Tyr)
c.3982A>T (p.Asn1328Tyr)
n.5236A>T
c.4945A>T (p.Asn1649Tyr)
n.5434A>T
2g.214978845T>CCA350459642ABCA12c.4936A>G (p.Asn1646Asp)
c.3982A>G (p.Asn1328Asp)
n.5236A>G
c.4945A>G (p.Asn1649Asp)
n.5434A>G
2g.214978845T>GCA350459644ABCA12c.4936A>C (p.Asn1646His)
c.3982A>C (p.Asn1328His)
n.5236A>C
c.4945A>C (p.Asn1649His)
n.5434A>C
2g.214978846G>ACA431147151ABCA12c.4935C>T (p.Leu1645=)
c.3981C>T (p.Leu1327=)
n.5235C>T
c.4944C>T (p.Leu1648=)
n.5433C>T
2g.214978846G>CCA431147157ABCA12c.4935C>G (p.Leu1645=)
c.3981C>G (p.Leu1327=)
n.5235C>G
c.4944C>G (p.Leu1648=)
n.5433C>G
2g.214978846G>TCA431147154ABCA12c.4935C>A (p.Leu1645=)
c.3981C>A (p.Leu1327=)
n.5235C>A
c.4944C>A (p.Leu1648=)
n.5433C>A
2g.214978847A=CA1327160323ABCA12c.4934T= (p.Leu1645=)
c.3980T= (p.Leu1327=)
n.5234T=
c.4943T= (p.Leu1648=)
n.5432T=
2g.214978847A>CCA350459647ABCA12c.4934T>G (p.Leu1645Arg)
c.3980T>G (p.Leu1327Arg)
n.5234T>G
c.4943T>G (p.Leu1648Arg)
n.5432T>G
2g.214978847A>GCA350459649ABCA12c.4934T>C (p.Leu1645Pro)
c.3980T>C (p.Leu1327Pro)
n.5234T>C
c.4943T>C (p.Leu1648Pro)
n.5432T>C
2g.214978847A>TCA2091347ABCA12c.4934T>A (p.Leu1645His)
c.3980T>A (p.Leu1327His)
n.5234T>A
c.4943T>A (p.Leu1648His)
n.5432T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978848G>ACA350459653ABCA12c.4933C>T (p.Leu1645Phe)
c.3979C>T (p.Leu1327Phe)
n.5233C>T
c.4942C>T (p.Leu1648Phe)
n.5431C>T
2g.214978848G>CCA350459655ABCA12c.4933C>G (p.Leu1645Val)
c.3979C>G (p.Leu1327Val)
n.5233C>G
c.4942C>G (p.Leu1648Val)
n.5431C>G
2g.214978848G>TCA350459656ABCA12c.4933C>A (p.Leu1645Ile)
c.3979C>A (p.Leu1327Ile)
n.5233C>A
c.4942C>A (p.Leu1648Ile)
n.5431C>A
2g.214978849G>ACA2091348ABCA12c.4932C>T (p.Asp1644=)
c.3978C>T (p.Asp1326=)
n.5232C>T
c.4941C>T (p.Asp1647=)
n.5430C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978849G>CCA350459660ABCA12c.4932C>G (p.Asp1644Glu)
c.3978C>G (p.Asp1326Glu)
n.5232C>G
c.4941C>G (p.Asp1647Glu)
n.5430C>G
2g.214978849G=CA1327160324ABCA12c.4932C= (p.Asp1644=)
c.3978C= (p.Asp1326=)
n.5232C=
c.4941C= (p.Asp1647=)
n.5430C=
2g.214978849G>TCA350459661ABCA12c.4932C>A (p.Asp1644Glu)
c.3978C>A (p.Asp1326Glu)
n.5232C>A
c.4941C>A (p.Asp1647Glu)
n.5430C>A
2g.214978850T>ACA350459665ABCA12c.4931A>T (p.Asp1644Val)
c.3977A>T (p.Asp1326Val)
n.5231A>T
c.4940A>T (p.Asp1647Val)
n.5429A>T
2g.214978850T>CCA350459669ABCA12c.4931A>G (p.Asp1644Gly)
c.3977A>G (p.Asp1326Gly)
n.5231A>G
c.4940A>G (p.Asp1647Gly)
n.5429A>G
2g.214978850T>GCA350459667ABCA12c.4931A>C (p.Asp1644Ala)
c.3977A>C (p.Asp1326Ala)
n.5231A>C
c.4940A>C (p.Asp1647Ala)
n.5429A>C
2g.214978851C>ACA350459673ABCA12c.4930G>T (p.Asp1644Tyr)
c.3976G>T (p.Asp1326Tyr)
n.5230G>T
c.4939G>T (p.Asp1647Tyr)
n.5428G>T
 gnomAD v4
2g.214978851C=CA1327160325ABCA12c.4930G= (p.Asp1644=)
c.3976G= (p.Asp1326=)
n.5230G=
c.4939G= (p.Asp1647=)
n.5428G=
2g.214978851C>GCA64813589ABCA12c.4930G>C (p.Asp1644His)
c.3976G>C (p.Asp1326His)
n.5230G>C
c.4939G>C (p.Asp1647His)
n.5428G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214978851C>TCA350459675ABCA12c.4930G>A (p.Asp1644Asn)
c.3976G>A (p.Asp1326Asn)
n.5230G>A
c.4939G>A (p.Asp1647Asn)
n.5428G>A
 gnomAD v4
2g.214978852A>CCA431147189ABCA12c.4929T>G (p.Gly1643=)
c.3975T>G (p.Gly1325=)
n.5229T>G
c.4938T>G (p.Gly1646=)
n.5427T>G
2g.214978852A>GCA431147192ABCA12c.4929T>C (p.Gly1643=)
c.3975T>C (p.Gly1325=)
n.5229T>C
c.4938T>C (p.Gly1646=)
n.5427T>C
2g.214978852A>TCA431147194ABCA12c.4929T>A (p.Gly1643=)
c.3975T>A (p.Gly1325=)
n.5229T>A
c.4938T>A (p.Gly1646=)
n.5427T>A
2g.214978853C>ACA2091349ABCA12c.4928G>T (p.Gly1643Val)
c.3974G>T (p.Gly1325Val)
n.5228G>T
c.4937G>T (p.Gly1646Val)
n.5426G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978853C=CA1327160326ABCA12c.4928G= (p.Gly1643=)
c.3974G= (p.Gly1325=)
n.5228G=
c.4937G= (p.Gly1646=)
n.5426G=
2g.214978853C>GCA350459685ABCA12c.4928G>C (p.Gly1643Ala)
c.3974G>C (p.Gly1325Ala)
n.5228G>C
c.4937G>C (p.Gly1646Ala)
n.5426G>C
2g.214978853C>TCA350459683ABCA12c.4928G>A (p.Gly1643Asp)
c.3974G>A (p.Gly1325Asp)
n.5228G>A
c.4937G>A (p.Gly1646Asp)
n.5426G>A
2g.214978854C>ACA2091351ABCA12c.4927G>T (p.Gly1643Cys)
c.3973G>T (p.Gly1325Cys)
n.5227G>T
c.4936G>T (p.Gly1646Cys)
n.5425G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978854C=CA1327160327ABCA12c.4927G= (p.Gly1643=)
c.3973G= (p.Gly1325=)
n.5227G=
c.4936G= (p.Gly1646=)
n.5425G=
2g.214978854C>GCA2091350ABCA12c.4927G>C (p.Gly1643Arg)
c.3973G>C (p.Gly1325Arg)
n.5227G>C
c.4936G>C (p.Gly1646Arg)
n.5425G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978854C>TCA350459687ABCA12c.4927G>A (p.Gly1643Ser)
c.3973G>A (p.Gly1325Ser)
n.5227G>A
c.4936G>A (p.Gly1646Ser)
n.5425G>A
 ClinVar dbSNP
2g.214978855C>ACA350459690ABCA12c.4926G>T (p.Met1642Ile)
c.3972G>T (p.Met1324Ile)
n.5226G>T
c.4935G>T (p.Met1645Ile)
n.5424G>T
 COSMIC COSMIC
2g.214978855C>GCA350459693ABCA12c.4926G>C (p.Met1642Ile)
c.3972G>C (p.Met1324Ile)
n.5226G>C
c.4935G>C (p.Met1645Ile)
n.5424G>C
2g.214978855C>TCA350459695ABCA12c.4926G>A (p.Met1642Ile)
c.3972G>A (p.Met1324Ile)
n.5226G>A
c.4935G>A (p.Met1645Ile)
n.5424G>A
2g.214978856A>CCA350459698ABCA12c.4925T>G (p.Met1642Arg)
c.3971T>G (p.Met1324Arg)
n.5225T>G
c.4934T>G (p.Met1645Arg)
n.5423T>G
2g.214978856A>GCA350459700ABCA12c.4925T>C (p.Met1642Thr)
c.3971T>C (p.Met1324Thr)
n.5225T>C
c.4934T>C (p.Met1645Thr)
n.5423T>C
2g.214978856A>TCA350459705ABCA12c.4925T>A (p.Met1642Lys)
c.3971T>A (p.Met1324Lys)
n.5225T>A
c.4934T>A (p.Met1645Lys)
n.5423T>A
2g.214978857T>ACA350459708ABCA12c.4924A>T (p.Met1642Leu)
c.3970A>T (p.Met1324Leu)
n.5224A>T
c.4933A>T (p.Met1645Leu)
n.5422A>T
2g.214978857T>CCA350459710ABCA12c.4924A>G (p.Met1642Val)
c.3970A>G (p.Met1324Val)
n.5224A>G
c.4933A>G (p.Met1645Val)
n.5422A>G
2g.214978857T>GCA350459711ABCA12c.4924A>C (p.Met1642Leu)
c.3970A>C (p.Met1324Leu)
n.5224A>C
c.4933A>C (p.Met1645Leu)
n.5422A>C
2g.214978858G>ACA431147229ABCA12c.4923C>T (p.Gly1641=)
c.3969C>T (p.Gly1323=)
n.5223C>T
c.4932C>T (p.Gly1644=)
n.5421C>T
2g.214978858G>CCA431147232ABCA12c.4923C>G (p.Gly1641=)
c.3969C>G (p.Gly1323=)
n.5223C>G
c.4932C>G (p.Gly1644=)
n.5421C>G
2g.214978858G>TCA431147234ABCA12c.4923C>A (p.Gly1641=)
c.3969C>A (p.Gly1323=)
n.5223C>A
c.4932C>A (p.Gly1644=)
n.5421C>A
2g.214978859C>ACA350459721ABCA12c.4922G>T (p.Gly1641Val)
c.3968G>T (p.Gly1323Val)
n.5222G>T
c.4931G>T (p.Gly1644Val)
n.5420G>T
 gnomAD v4
2g.214978859C=CA1327160328ABCA12c.4922G= (p.Gly1641=)
c.3968G= (p.Gly1323=)
n.5222G=
c.4931G= (p.Gly1644=)
n.5420G=
2g.214978859C>GCA350459714ABCA12c.4922G>C (p.Gly1641Ala)
c.3968G>C (p.Gly1323Ala)
n.5222G>C
c.4931G>C (p.Gly1644Ala)
n.5420G>C
2g.214978859C>TCA2091352ABCA12c.4922G>A (p.Gly1641Asp)
c.3968G>A (p.Gly1323Asp)
n.5222G>A
c.4931G>A (p.Gly1644Asp)
n.5420G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978860C>ACA350459726ABCA12c.4921G>T (p.Gly1641Cys)
c.3967G>T (p.Gly1323Cys)
n.5221G>T
c.4930G>T (p.Gly1644Cys)
n.5419G>T
2g.214978860C>GCA350459727ABCA12c.4921G>C (p.Gly1641Arg)
c.3967G>C (p.Gly1323Arg)
n.5221G>C
c.4930G>C (p.Gly1644Arg)
n.5419G>C
2g.214978860C>TCA350459728ABCA12c.4921G>A (p.Gly1641Ser)
c.3967G>A (p.Gly1323Ser)
n.5221G>A
c.4930G>A (p.Gly1644Ser)
n.5419G>A
2g.214978861A>CCA350459731ABCA12c.4920T>G (p.Asn1640Lys)
c.3966T>G (p.Asn1322Lys)
n.5220T>G
c.4929T>G (p.Asn1643Lys)
n.5418T>G
2g.214978861A>GCA431147248ABCA12c.4920T>C (p.Asn1640=)
c.3966T>C (p.Asn1322=)
n.5220T>C
c.4929T>C (p.Asn1643=)
n.5418T>C
 ClinVar gnomAD v4
2g.214978861A>TCA350459732ABCA12c.4920T>A (p.Asn1640Lys)
c.3966T>A (p.Asn1322Lys)
n.5220T>A
c.4929T>A (p.Asn1643Lys)
n.5418T>A
2g.214978862T>ACA350459739ABCA12c.4919A>T (p.Asn1640Ile)
c.3965A>T (p.Asn1322Ile)
n.5219A>T
c.4928A>T (p.Asn1643Ile)
n.5417A>T
2g.214978862T>CCA350459740ABCA12c.4919A>G (p.Asn1640Ser)
c.3965A>G (p.Asn1322Ser)
n.5219A>G
c.4928A>G (p.Asn1643Ser)
n.5417A>G
 dbSNP gnomAD v4
2g.214978862T>GCA350459743ABCA12c.4919A>C (p.Asn1640Thr)
c.3965A>C (p.Asn1322Thr)
n.5219A>C
c.4928A>C (p.Asn1643Thr)
n.5417A>C
2g.214978862T=CA1327160329ABCA12c.4919A= (p.Asn1640=)
c.3965A= (p.Asn1322=)
n.5219A=
c.4928A= (p.Asn1643=)
n.5417A=
2g.214978863T>ACA350459745ABCA12c.4918A>T (p.Asn1640Tyr)
c.3964A>T (p.Asn1322Tyr)
n.5218A>T
c.4927A>T (p.Asn1643Tyr)
n.5416A>T
2g.214978863T>CCA350459747ABCA12c.4918A>G (p.Asn1640Asp)
c.3964A>G (p.Asn1322Asp)
n.5218A>G
c.4927A>G (p.Asn1643Asp)
n.5416A>G
2g.214978863T>GCA350459750ABCA12c.4918A>C (p.Asn1640His)
c.3964A>C (p.Asn1322His)
n.5218A>C
c.4927A>C (p.Asn1643His)
n.5416A>C
2g.214978864G>ACA431147260ABCA12c.4917C>T (p.Asp1639=)
c.3963C>T (p.Asp1321=)
n.5217C>T
c.4926C>T (p.Asp1642=)
n.5415C>T
2g.214978864G>CCA350459753ABCA12c.4917C>G (p.Asp1639Glu)
c.3963C>G (p.Asp1321Glu)
n.5217C>G
c.4926C>G (p.Asp1642Glu)
n.5415C>G
2g.214978864G>TCA350459759ABCA12c.4917C>A (p.Asp1639Glu)
c.3963C>A (p.Asp1321Glu)
n.5217C>A
c.4926C>A (p.Asp1642Glu)
n.5415C>A
2g.214978865T>ACA350459761ABCA12c.4916A>T (p.Asp1639Val)
c.3962A>T (p.Asp1321Val)
n.5216A>T
c.4925A>T (p.Asp1642Val)
n.5414A>T
2g.214978865T>CCA350459762ABCA12c.4916A>G (p.Asp1639Gly)
c.3962A>G (p.Asp1321Gly)
n.5216A>G
c.4925A>G (p.Asp1642Gly)
n.5414A>G
2g.214978865T>GCA350459763ABCA12c.4916A>C (p.Asp1639Ala)
c.3962A>C (p.Asp1321Ala)
n.5216A>C
c.4925A>C (p.Asp1642Ala)
n.5414A>C
2g.214978866C>ACA350459765ABCA12c.4915G>T (p.Asp1639Tyr)
c.3961G>T (p.Asp1321Tyr)
n.5215G>T
c.4924G>T (p.Asp1642Tyr)
n.5413G>T
2g.214978866C=CA1327160330ABCA12c.4915G= (p.Asp1639=)
c.3961G= (p.Asp1321=)
n.5215G=
c.4924G= (p.Asp1642=)
n.5413G=
2g.214978866C>GCA350459773ABCA12c.4915G>C (p.Asp1639His)
c.3961G>C (p.Asp1321His)
n.5215G>C
c.4924G>C (p.Asp1642His)
n.5413G>C
2g.214978866C>TCA10612784ABCA12c.4915G>A (p.Asp1639Asn)
c.3961G>A (p.Asp1321Asn)
n.5215G>A
c.4924G>A (p.Asp1642Asn)
n.5413G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214978867G>ACA2091353ABCA12c.4914C>T (p.Leu1638=)
c.3960C>T (p.Leu1320=)
n.5214C>T
c.4923C>T (p.Leu1641=)
n.5412C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978867G>CCA431147278ABCA12c.4914C>G (p.Leu1638=)
c.3960C>G (p.Leu1320=)
n.5214C>G
c.4923C>G (p.Leu1641=)
n.5412C>G
2g.214978867G=CA1327160331ABCA12c.4914C= (p.Leu1638=)
c.3960C= (p.Leu1320=)
n.5214C=
c.4923C= (p.Leu1641=)
n.5412C=
2g.214978867G>TCA431147280ABCA12c.4914C>A (p.Leu1638=)
c.3960C>A (p.Leu1320=)
n.5214C>A
c.4923C>A (p.Leu1641=)
n.5412C>A
 gnomAD v4
2g.214978868A>CCA350459776ABCA12c.4913T>G (p.Leu1638Arg)
c.3959T>G (p.Leu1320Arg)
n.5213T>G
c.4922T>G (p.Leu1641Arg)
n.5411T>G
2g.214978868A>GCA350459777ABCA12c.4913T>C (p.Leu1638Pro)
c.3959T>C (p.Leu1320Pro)
n.5213T>C
c.4922T>C (p.Leu1641Pro)
n.5411T>C
2g.214978868A>TCA350459778ABCA12c.4913T>A (p.Leu1638His)
c.3959T>A (p.Leu1320His)
n.5213T>A
c.4922T>A (p.Leu1641His)
n.5411T>A
2g.214978869G>ACA350459779ABCA12c.4912C>T (p.Leu1638Phe)
c.3958C>T (p.Leu1320Phe)
n.5212C>T
c.4921C>T (p.Leu1641Phe)
n.5410C>T
 dbSNP gnomAD v4
2g.214978869G>CCA350459780ABCA12c.4912C>G (p.Leu1638Val)
c.3958C>G (p.Leu1320Val)
n.5212C>G
c.4921C>G (p.Leu1641Val)
n.5410C>G
 gnomAD v4
2g.214978869G=CA1327160332ABCA12c.4912C= (p.Leu1638=)
c.3958C= (p.Leu1320=)
n.5212C=
c.4921C= (p.Leu1641=)
n.5410C=
2g.214978869G>TCA350459781ABCA12c.4912C>A (p.Leu1638Ile)
c.3958C>A (p.Leu1320Ile)
n.5212C>A
c.4921C>A (p.Leu1641Ile)
n.5410C>A
2g.214978870T>ACA431147286ABCA12c.4911A>T (p.Ala1637=)
c.3957A>T (p.Ala1319=)
n.5211A>T
c.4920A>T (p.Ala1640=)
n.5409A>T
2g.214978870T>CCA431147288ABCA12c.4911A>G (p.Ala1637=)
c.3957A>G (p.Ala1319=)
n.5211A>G
c.4920A>G (p.Ala1640=)
n.5409A>G
2g.214978870T>GCA431147289ABCA12c.4911A>C (p.Ala1637=)
c.3957A>C (p.Ala1319=)
n.5211A>C
c.4920A>C (p.Ala1640=)
n.5409A>C
2g.214978871G>ACA350459782ABCA12c.4910C>T (p.Ala1637Val)
c.3956C>T (p.Ala1319Val)
n.5210C>T
c.4919C>T (p.Ala1640Val)
n.5408C>T
 gnomAD v4
2g.214978871G>CCA350459783ABCA12c.4910C>G (p.Ala1637Gly)
c.3956C>G (p.Ala1319Gly)
n.5210C>G
c.4919C>G (p.Ala1640Gly)
n.5408C>G
2g.214978871G=CA1327160333ABCA12c.4910C= (p.Ala1637=)
c.3956C= (p.Ala1319=)
n.5210C=
c.4919C= (p.Ala1640=)
n.5408C=
2g.214978871G>TCA2091354ABCA12c.4910C>A (p.Ala1637Glu)
c.3956C>A (p.Ala1319Glu)
n.5210C>A
c.4919C>A (p.Ala1640Glu)
n.5408C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978872C>ACA350459784ABCA12c.4909G>T (p.Ala1637Ser)
c.3955G>T (p.Ala1319Ser)
n.5209G>T
c.4918G>T (p.Ala1640Ser)
n.5407G>T
2g.214978872C=CA1327160334ABCA12c.4909G= (p.Ala1637=)
c.3955G= (p.Ala1319=)
n.5209G=
c.4918G= (p.Ala1640=)
n.5407G=
2g.214978872C>GCA350459785ABCA12c.4909G>C (p.Ala1637Pro)
c.3955G>C (p.Ala1319Pro)
n.5209G>C
c.4918G>C (p.Ala1640Pro)
n.5407G>C
2g.214978872C>TCA2091355ABCA12c.4909G>A (p.Ala1637Thr)
c.3955G>A (p.Ala1319Thr)
n.5209G>A
c.4918G>A (p.Ala1640Thr)
n.5407G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978873C>ACA431147296ABCA12c.4908G>T (p.Arg1636=)
c.3954G>T (p.Arg1318=)
n.5208G>T
c.4917G>T (p.Arg1639=)
n.5406G>T
2g.214978873C>GCA431147300ABCA12c.4908G>C (p.Arg1636=)
c.3954G>C (p.Arg1318=)
n.5208G>C
c.4917G>C (p.Arg1639=)
n.5406G>C
2g.214978873C>TCA431147298ABCA12c.4908G>A (p.Arg1636=)
c.3954G>A (p.Arg1318=)
n.5208G>A
c.4917G>A (p.Arg1639=)
n.5406G>A
2g.214978874C>ACA350459786ABCA12c.4907G>T (p.Arg1636Leu)
c.3953G>T (p.Arg1318Leu)
n.5207G>T
c.4916G>T (p.Arg1639Leu)
n.5405G>T
2g.214978874C=CA1327160335ABCA12c.4907G= (p.Arg1636=)
c.3953G= (p.Arg1318=)
n.5207G=
c.4916G= (p.Arg1639=)
n.5405G=
2g.214978874C>GCA350459787ABCA12c.4907G>C (p.Arg1636Pro)
c.3953G>C (p.Arg1318Pro)
n.5207G>C
c.4916G>C (p.Arg1639Pro)
n.5405G>C
2g.214978874C>TCA2091356ABCA12c.4907G>A (p.Arg1636Gln)
c.3953G>A (p.Arg1318Gln)
n.5207G>A
c.4916G>A (p.Arg1639Gln)
n.5405G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.214978875G>ACA2091357ABCA12c.4906C>T (p.Arg1636Trp)
c.3952C>T (p.Arg1318Trp)
n.5206C>T
c.4915C>T (p.Arg1639Trp)
n.5404C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978875G>CCA350459788ABCA12c.4906C>G (p.Arg1636Gly)
c.3952C>G (p.Arg1318Gly)
n.5206C>G
c.4915C>G (p.Arg1639Gly)
n.5404C>G
2g.214978875G=CA1327160336ABCA12c.4906C= (p.Arg1636=)
c.3952C= (p.Arg1318=)
n.5206C=
c.4915C= (p.Arg1639=)
n.5404C=
2g.214978875G>TCA431147305ABCA12c.4906C>A (p.Arg1636=)
c.3952C>A (p.Arg1318=)
n.5206C>A
c.4915C>A (p.Arg1639=)
n.5404C>A
2g.214978876T>ACA431147307ABCA12c.4905A>T (p.Leu1635=)
c.3951A>T (p.Leu1317=)
n.5205A>T
c.4914A>T (p.Leu1638=)
n.5403A>T
2g.214978876T>CCA64813641ABCA12c.4905A>G (p.Leu1635=)
c.3951A>G (p.Leu1317=)
n.5205A>G
c.4914A>G (p.Leu1638=)
n.5403A>G
 dbSNP
2g.214978876T>GCA431147309ABCA12c.4905A>C (p.Leu1635=)
c.3951A>C (p.Leu1317=)
n.5205A>C
c.4914A>C (p.Leu1638=)
n.5403A>C
2g.214978876T=CA1327160337ABCA12c.4905A= (p.Leu1635=)
c.3951A= (p.Leu1317=)
n.5205A=
c.4914A= (p.Leu1638=)
n.5403A=
2g.214978877A>CCA350459789ABCA12c.4904T>G (p.Leu1635Arg)
c.3950T>G (p.Leu1317Arg)
n.5204T>G
c.4913T>G (p.Leu1638Arg)
n.5402T>G
2g.214978877A>GCA350459790ABCA12c.4904T>C (p.Leu1635Pro)
c.3950T>C (p.Leu1317Pro)
n.5204T>C
c.4913T>C (p.Leu1638Pro)
n.5402T>C
2g.214978877A>TCA350459791ABCA12c.4904T>A (p.Leu1635Gln)
c.3950T>A (p.Leu1317Gln)
n.5204T>A
c.4913T>A (p.Leu1638Gln)
n.5402T>A
2g.214978878G>ACA431147315ABCA12c.4903C>T (p.Leu1635=)
c.3949C>T (p.Leu1317=)
n.5203C>T
c.4912C>T (p.Leu1638=)
n.5401C>T
 ClinVar
2g.214978878G>CCA350459800ABCA12c.4903C>G (p.Leu1635Val)
c.3949C>G (p.Leu1317Val)
n.5203C>G
c.4912C>G (p.Leu1638Val)
n.5401C>G
 dbSNP
2g.214978878G=CA1327160338ABCA12c.4903C= (p.Leu1635=)
c.3949C= (p.Leu1317=)
n.5203C=
c.4912C= (p.Leu1638=)
n.5401C=
2g.214978878G>TCA350459802ABCA12c.4903C>A (p.Leu1635Ile)
c.3949C>A (p.Leu1317Ile)
n.5203C>A
c.4912C>A (p.Leu1638Ile)
n.5401C>A
2g.214978879G>ACA431147317ABCA12c.4902C>T (p.Leu1634=)
c.3948C>T (p.Leu1316=)
n.5202C>T
c.4911C>T (p.Leu1637=)
n.5400C>T
 dbSNP gnomAD v3 gnomAD v4
2g.214978879G>CCA431147319ABCA12c.4902C>G (p.Leu1634=)
c.3948C>G (p.Leu1316=)
n.5202C>G
c.4911C>G (p.Leu1637=)
n.5400C>G
2g.214978879G=CA1327160339ABCA12c.4902C= (p.Leu1634=)
c.3948C= (p.Leu1316=)
n.5202C=
c.4911C= (p.Leu1637=)
n.5400C=
2g.214978879G>TCA431147320ABCA12c.4902C>A (p.Leu1634=)
c.3948C>A (p.Leu1316=)
n.5202C>A
c.4911C>A (p.Leu1637=)
n.5400C>A
2g.214978880A=CA1327160340ABCA12c.4901T= (p.Leu1634=)
c.3947T= (p.Leu1316=)
n.5201T=
c.4910T= (p.Leu1637=)
n.5399T=
2g.214978880A>CCA350459805ABCA12c.4901T>G (p.Leu1634Arg)
c.3947T>G (p.Leu1316Arg)
n.5201T>G
c.4910T>G (p.Leu1637Arg)
n.5399T>G
2g.214978880A>GCA350459809ABCA12c.4901T>C (p.Leu1634Pro)
c.3947T>C (p.Leu1316Pro)
n.5201T>C
c.4910T>C (p.Leu1637Pro)
n.5399T>C
 dbSNP
2g.214978880A>TCA350459807ABCA12c.4901T>A (p.Leu1634His)
c.3947T>A (p.Leu1316His)
n.5201T>A
c.4910T>A (p.Leu1637His)
n.5399T>A
2g.214978881G>ACA350459812ABCA12c.4900C>T (p.Leu1634Phe)
c.3946C>T (p.Leu1316Phe)
n.5200C>T
c.4909C>T (p.Leu1637Phe)
n.5398C>T
2g.214978881G>CCA350459815ABCA12c.4900C>G (p.Leu1634Val)
c.3946C>G (p.Leu1316Val)
n.5200C>G
c.4909C>G (p.Leu1637Val)
n.5398C>G
2g.214978881G>TCA350459817ABCA12c.4900C>A (p.Leu1634Ile)
c.3946C>A (p.Leu1316Ile)
n.5200C>A
c.4909C>A (p.Leu1637Ile)
n.5398C>A
2g.214978881_214978896delinsGTGACAGGTAGGCCCCCA1327160341ABCA12c.4885_4900delinsGGGGCCTACCTGTCAC (p.Gly1629=)
c.3931_3946delinsGGGGCCTACCTGTCAC (p.Gly1311=)
n.5185_5200delinsGGGGCCTACCTGTCAC
c.4894_4909delinsGGGGCCTACCTGTCAC (p.Gly1632=)
n.5383_5398delinsGGGGCCTACCTGTCAC
2g.214978882T>ACA431147327ABCA12c.4899A>T (p.Ser1633=)
c.3945A>T (p.Ser1315=)
n.5199A>T
c.4908A>T (p.Ser1636=)
n.5397A>T
2g.214978882T>CCA431147328ABCA12c.4899A>G (p.Ser1633=)
c.3945A>G (p.Ser1315=)
n.5199A>G
c.4908A>G (p.Ser1636=)
n.5397A>G
2g.214978882T>GCA431147330ABCA12c.4899A>C (p.Ser1633=)
c.3945A>C (p.Ser1315=)
n.5199A>C
c.4908A>C (p.Ser1636=)
n.5397A>C
2g.214978885_214978899delCA1327160342ABCA12c.4885_4899del (p.Gly1629_Ser1633del)
c.3931_3945del (p.Gly1311_Ser1315del)
n.5185_5199del
c.4894_4908del (p.Gly1632_Ser1636del)
n.5383_5397del
 dbSNP
2g.214978883G>ACA64813643ABCA12c.4898C>T (p.Ser1633Leu)
c.3944C>T (p.Ser1315Leu)
n.5198C>T
c.4907C>T (p.Ser1636Leu)
n.5396C>T
 dbSNP gnomAD v4
2g.214978883G>CCA350459821ABCA12c.4898C>G (p.Ser1633Ter)
c.3944C>G (p.Ser1315Ter)
n.5198C>G
c.4907C>G (p.Ser1636Ter)
n.5396C>G
2g.214978883G=CA1327160343ABCA12c.4898C= (p.Ser1633=)
c.3944C= (p.Ser1315=)
n.5198C=
c.4907C= (p.Ser1636=)
n.5396C=
2g.214978883G>TCA350459823ABCA12c.4898C>A (p.Ser1633Ter)
c.3944C>A (p.Ser1315Ter)
n.5198C>A
c.4907C>A (p.Ser1636Ter)
n.5396C>A
2g.214978884A>CCA350459826ABCA12c.4897T>G (p.Ser1633Ala)
c.3943T>G (p.Ser1315Ala)
n.5197T>G
c.4906T>G (p.Ser1636Ala)
n.5395T>G
2g.214978884A>GCA350459828ABCA12c.4897T>C (p.Ser1633Pro)
c.3943T>C (p.Ser1315Pro)
n.5197T>C
c.4906T>C (p.Ser1636Pro)
n.5395T>C
2g.214978884A>TCA350459829ABCA12c.4897T>A (p.Ser1633Thr)
c.3943T>A (p.Ser1315Thr)
n.5197T>A
c.4906T>A (p.Ser1636Thr)
n.5395T>A
2g.214978885delCA2586971421ABCA12c.4896del (p.Ser1633HisfsTer?)
c.3942del (p.Ser1315HisfsTer?)
n.5196del
c.4905del (p.Ser1636HisfsTer?)
n.5394del
 gnomAD v4
2g.214978885C>ACA431147337ABCA12c.4896G>T (p.Leu1632=)
c.3942G>T (p.Leu1314=)
n.5196G>T
c.4905G>T (p.Leu1635=)
n.5394G>T
2g.214978885C>GCA431147339ABCA12c.4896G>C (p.Leu1632=)
c.3942G>C (p.Leu1314=)
n.5196G>C
c.4905G>C (p.Leu1635=)
n.5394G>C
2g.214978885C>TCA431147341ABCA12c.4896G>A (p.Leu1632=)
c.3942G>A (p.Leu1314=)
n.5196G>A
c.4905G>A (p.Leu1635=)
n.5394G>A
2g.214978886A>CCA350459831ABCA12c.4895T>G (p.Leu1632Arg)
c.3941T>G (p.Leu1314Arg)
n.5195T>G
c.4904T>G (p.Leu1635Arg)
n.5393T>G
2g.214978886A>GCA350459832ABCA12c.4895T>C (p.Leu1632Pro)
c.3941T>C (p.Leu1314Pro)
n.5195T>C
c.4904T>C (p.Leu1635Pro)
n.5393T>C
2g.214978886A>TCA350459834ABCA12c.4895T>A (p.Leu1632Gln)
c.3941T>A (p.Leu1314Gln)
n.5195T>A
c.4904T>A (p.Leu1635Gln)
n.5393T>A
2g.214978887G>ACA431147345ABCA12c.4894C>T (p.Leu1632=)
c.3940C>T (p.Leu1314=)
n.5194C>T
c.4903C>T (p.Leu1635=)
n.5392C>T
2g.214978887G>CCA350459837ABCA12c.4894C>G (p.Leu1632Val)
c.3940C>G (p.Leu1314Val)
n.5194C>G
c.4903C>G (p.Leu1635Val)
n.5392C>G
2g.214978887G>TCA350459839ABCA12c.4894C>A (p.Leu1632Met)
c.3940C>A (p.Leu1314Met)
n.5194C>A
c.4903C>A (p.Leu1635Met)
n.5392C>A
2g.214978888G>ACA2091358ABCA12c.4893C>T (p.Tyr1631=)
c.3939C>T (p.Tyr1313=)
n.5193C>T
c.4902C>T (p.Tyr1634=)
n.5391C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978888G>CCA350459841ABCA12c.4893C>G (p.Tyr1631Ter)
c.3939C>G (p.Tyr1313Ter)
n.5193C>G
c.4902C>G (p.Tyr1634Ter)
n.5391C>G
2g.214978888G=CA1327160344ABCA12c.4893C= (p.Tyr1631=)
c.3939C= (p.Tyr1313=)
n.5193C=
c.4902C= (p.Tyr1634=)
n.5391C=
2g.214978888G>TCA350459842ABCA12c.4893C>A (p.Tyr1631Ter)
c.3939C>A (p.Tyr1313Ter)
n.5193C>A
c.4902C>A (p.Tyr1634Ter)
n.5391C>A
2g.214978889T>ACA350459845ABCA12c.4892A>T (p.Tyr1631Phe)
c.3938A>T (p.Tyr1313Phe)
n.5192A>T
c.4901A>T (p.Tyr1634Phe)
n.5390A>T
2g.214978889T>CCA2091359ABCA12c.4892A>G (p.Tyr1631Cys)
c.3938A>G (p.Tyr1313Cys)
n.5192A>G
c.4901A>G (p.Tyr1634Cys)
n.5390A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978889T>GCA350459848ABCA12c.4892A>C (p.Tyr1631Ser)
c.3938A>C (p.Tyr1313Ser)
n.5192A>C
c.4901A>C (p.Tyr1634Ser)
n.5390A>C
 dbSNP
2g.214978889T=CA1327160345ABCA12c.4892A= (p.Tyr1631=)
c.3938A= (p.Tyr1313=)
n.5192A=
c.4901A= (p.Tyr1634=)
n.5390A=
2g.214978890A>CCA350459850ABCA12c.4891T>G (p.Tyr1631Asp)
c.3937T>G (p.Tyr1313Asp)
n.5191T>G
c.4900T>G (p.Tyr1634Asp)
n.5389T>G
2g.214978890A>GCA350459851ABCA12c.4891T>C (p.Tyr1631His)
c.3937T>C (p.Tyr1313His)
n.5191T>C
c.4900T>C (p.Tyr1634His)
n.5389T>C
2g.214978890A>TCA350459853ABCA12c.4891T>A (p.Tyr1631Asn)
c.3937T>A (p.Tyr1313Asn)
n.5191T>A
c.4900T>A (p.Tyr1634Asn)
n.5389T>A
2g.214978891G>ACA431147354ABCA12c.4890C>T (p.Ala1630=)
c.3936C>T (p.Ala1312=)
n.5190C>T
c.4899C>T (p.Ala1633=)
n.5388C>T
2g.214978891G>CCA431147356ABCA12c.4890C>G (p.Ala1630=)
c.3936C>G (p.Ala1312=)
n.5190C>G
c.4899C>G (p.Ala1633=)
n.5388C>G
 dbSNP gnomAD v3 gnomAD v4
2g.214978891G=CA1327160346ABCA12c.4890C= (p.Ala1630=)
c.3936C= (p.Ala1312=)
n.5190C=
c.4899C= (p.Ala1633=)
n.5388C=
2g.214978891G>TCA431147358ABCA12c.4890C>A (p.Ala1630=)
c.3936C>A (p.Ala1312=)
n.5190C>A
c.4899C>A (p.Ala1633=)
n.5388C>A
2g.214978892G>ACA64813655ABCA12c.4889C>T (p.Ala1630Val)
c.3935C>T (p.Ala1312Val)
n.5189C>T
c.4898C>T (p.Ala1633Val)
n.5387C>T
 dbSNP gnomAD v4
2g.214978892G>CCA350459859ABCA12c.4889C>G (p.Ala1630Gly)
c.3935C>G (p.Ala1312Gly)
n.5189C>G
c.4898C>G (p.Ala1633Gly)
n.5387C>G
2g.214978892G=CA1327160347ABCA12c.4889C= (p.Ala1630=)
c.3935C= (p.Ala1312=)
n.5189C=
c.4898C= (p.Ala1633=)
n.5387C=
2g.214978892G>TCA350459860ABCA12c.4889C>A (p.Ala1630Asp)
c.3935C>A (p.Ala1312Asp)
n.5189C>A
c.4898C>A (p.Ala1633Asp)
n.5387C>A
2g.214978893C>ACA350459862ABCA12c.4888G>T (p.Ala1630Ser)
c.3934G>T (p.Ala1312Ser)
n.5188G>T
c.4897G>T (p.Ala1633Ser)
n.5386G>T
2g.214978893C=CA1327160348ABCA12c.4888G= (p.Ala1630=)
c.3934G= (p.Ala1312=)
n.5188G=
c.4897G= (p.Ala1633=)
n.5386G=
2g.214978893C>GCA350459866ABCA12c.4888G>C (p.Ala1630Pro)
c.3934G>C (p.Ala1312Pro)
n.5188G>C
c.4897G>C (p.Ala1633Pro)
n.5386G>C
 dbSNP
2g.214978893C>TCA2091360ABCA12c.4888G>A (p.Ala1630Thr)
c.3934G>A (p.Ala1312Thr)
n.5188G>A
c.4897G>A (p.Ala1633Thr)
n.5386G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978894C>ACA431147365ABCA12c.4887G>T (p.Gly1629=)
c.3933G>T (p.Gly1311=)
n.5187G>T
c.4896G>T (p.Gly1632=)
n.5385G>T
2g.214978894C>GCA431147366ABCA12c.4887G>C (p.Gly1629=)
c.3933G>C (p.Gly1311=)
n.5187G>C
c.4896G>C (p.Gly1632=)
n.5385G>C
 gnomAD v4
2g.214978894C>TCA431147368ABCA12c.4887G>A (p.Gly1629=)
c.3933G>A (p.Gly1311=)
n.5187G>A
c.4896G>A (p.Gly1632=)
n.5385G>A
2g.214978895C>ACA350459867ABCA12c.4886G>T (p.Gly1629Val)
c.3932G>T (p.Gly1311Val)
n.5186G>T
c.4895G>T (p.Gly1632Val)
n.5384G>T
2g.214978895C=CA1327160349ABCA12c.4886G= (p.Gly1629=)
c.3932G= (p.Gly1311=)
n.5186G=
c.4895G= (p.Gly1632=)
n.5384G=
2g.214978895C>GCA350459870ABCA12c.4886G>C (p.Gly1629Ala)
c.3932G>C (p.Gly1311Ala)
n.5186G>C
c.4895G>C (p.Gly1632Ala)
n.5384G>C
2g.214978895C>TCA2091361ABCA12c.4886G>A (p.Gly1629Glu)
c.3932G>A (p.Gly1311Glu)
n.5186G>A
c.4895G>A (p.Gly1632Glu)
n.5384G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched