Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219218166T>ACA350643620ABCB6,ATG9Ac.508A>T (p.Ser170Cys)
c.189A>T
c.261A>T
c.3047A>T
c.311A>T
c.25A>T (p.Ser9Cys)
2g.219218166T>CCA144712ABCB6,ATG9Ac.508A>G (p.Ser170Gly)
c.189A>G
c.261A>G
c.3047A>G
c.311A>G
c.25A>G (p.Ser9Gly)
 ClinVar dbSNP
2g.219218166T>GCA350643623ABCB6,ATG9Ac.508A>C (p.Ser170Arg)
c.189A>C
c.261A>C
c.3047A>C
c.311A>C
c.25A>C (p.Ser9Arg)
2g.219218166T=CA1329115464ABCB6,ATG9Ac.508A= (p.Ser170=)
c.189A=
c.261A=
c.3047A=
c.311A=
c.25A= (p.Ser9=)
2g.219218167G>ACA431273075ABCB6,ATG9Ac.507C>T (p.Asn169=)
c.188C>T
c.260C>T
c.3046C>T
c.310C>T
c.24C>T (p.Asn8=)
2g.219218167G>CCA350643625ABCB6,ATG9Ac.507C>G (p.Asn169Lys)
c.188C>G
c.260C>G
c.3046C>G
c.310C>G
c.24C>G (p.Asn8Lys)
2g.219218167G>TCA350643628ABCB6,ATG9Ac.507C>A (p.Asn169Lys)
c.188C>A
c.260C>A
c.3046C>A
c.310C>A
c.24C>A (p.Asn8Lys)
2g.219218168T>ACA350643630ABCB6,ATG9Ac.506A>T (p.Asn169Ile)
c.187A>T
c.259A>T
c.3045A>T
c.309A>T
c.23A>T (p.Asn8Ile)
2g.219218168T>CCA350643635ABCB6,ATG9Ac.506A>G (p.Asn169Ser)
c.187A>G
c.259A>G
c.3045A>G
c.309A>G
c.23A>G (p.Asn8Ser)
2g.219218168T>GCA350643633ABCB6,ATG9Ac.506A>C (p.Asn169Thr)
c.187A>C
c.259A>C
c.3045A>C
c.309A>C
c.23A>C (p.Asn8Thr)
2g.219218169T>ACA350643638ABCB6,ATG9Ac.505A>T (p.Asn169Tyr)
c.186A>T
c.258A>T
c.3044A>T
c.308A>T
c.22A>T (p.Asn8Tyr)
2g.219218169T>CCA350643640ABCB6,ATG9Ac.505A>G (p.Asn169Asp)
c.186A>G
c.258A>G
c.3044A>G
c.308A>G
c.22A>G (p.Asn8Asp)
 gnomAD v4
2g.219218169T>GCA350643641ABCB6,ATG9Ac.505A>C (p.Asn169His)
c.186A>C
c.258A>C
c.3044A>C
c.308A>C
c.22A>C (p.Asn8His)
2g.219218170C>ACA350643644ABCB6,ATG9Ac.504G>T (p.Trp168Cys)
c.185G>T
c.257G>T
c.3043G>T
c.307G>T
c.21G>T (p.Trp7Cys)
2g.219218170C>GCA350643646ABCB6,ATG9Ac.504G>C (p.Trp168Cys)
c.185G>C
c.257G>C
c.3043G>C
c.307G>C
c.21G>C (p.Trp7Cys)
2g.219218170C>TCA350643647ABCB6,ATG9Ac.504G>A (p.Trp168Ter)
c.185G>A
c.257G>A
c.3043G>A
c.307G>A
c.21G>A (p.Trp7Ter)
 gnomAD v4
2g.219218171C>ACA350643649ABCB6,ATG9Ac.503G>T (p.Trp168Leu)
c.184G>T
c.256G>T
c.3042G>T
c.306G>T
c.20G>T (p.Trp7Leu)
2g.219218171C=CA1329115465ABCB6,ATG9Ac.503G= (p.Trp168=)
c.184G=
c.256G=
c.3042G=
c.306G=
c.20G= (p.Trp7=)
2g.219218171C>GCA350643651ABCB6,ATG9Ac.503G>C (p.Trp168Ser)
c.184G>C
c.256G>C
c.3042G>C
c.306G>C
c.20G>C (p.Trp7Ser)
2g.219218171C>TCA2119738ABCB6,ATG9Ac.503G>A (p.Trp168Ter)
c.184G>A
c.256G>A
c.3042G>A
c.306G>A
c.20G>A (p.Trp7Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219218172A>CCA350643655ABCB6,ATG9Ac.502T>G (p.Trp168Gly)
c.183T>G
c.255T>G
c.3041T>G
c.305T>G
c.19T>G (p.Trp7Gly)
2g.219218172A>GCA350643657ABCB6,ATG9Ac.502T>C (p.Trp168Arg)
c.183T>C
c.255T>C
c.3041T>C
c.305T>C
c.19T>C (p.Trp7Arg)
 gnomAD v4
2g.219218172A>TCA350643658ABCB6,ATG9Ac.502T>A (p.Trp168Arg)
c.183T>A
c.255T>A
c.3041T>A
c.305T>A
c.19T>A (p.Trp7Arg)
2g.219218173A=CA1329115466ABCB6,ATG9Ac.501T= (p.Ser167=)
c.182T=
c.254T=
c.3040T=
c.304T=
c.18T= (p.Ser6=)
2g.219218173A>CCA431273109ABCB6,ATG9Ac.501T>G (p.Ser167=)
c.182T>G
c.254T>G
c.3040T>G
c.304T>G
c.18T>G (p.Ser6=)
2g.219218173A>GCA431273111ABCB6,ATG9Ac.501T>C (p.Ser167=)
c.182T>C
c.254T>C
c.3040T>C
c.304T>C
c.18T>C (p.Ser6=)
 dbSNP gnomAD v2 gnomAD v4
2g.219218173A>TCA431273106ABCB6,ATG9Ac.501T>A (p.Ser167=)
c.182T>A
c.254T>A
c.3040T>A
c.304T>A
c.18T>A (p.Ser6=)
2g.219218174G>ACA350643662ABCB6,ATG9Ac.500C>T (p.Ser167Phe)
c.181C>T
c.253C>T
c.3039C>T
c.303C>T
c.17C>T (p.Ser6Phe)
2g.219218174G>CCA350643663ABCB6,ATG9Ac.500C>G (p.Ser167Cys)
c.181C>G
c.253C>G
c.3039C>G
c.303C>G
c.17C>G (p.Ser6Cys)
2g.219218174G>TCA350643660ABCB6,ATG9Ac.500C>A (p.Ser167Tyr)
c.181C>A
c.253C>A
c.3039C>A
c.303C>A
c.17C>A (p.Ser6Tyr)
2g.219218175A>CCA350643666ABCB6,ATG9Ac.499T>G (p.Ser167Ala)
c.180T>G
c.252T>G
c.3038T>G
c.302T>G
c.16T>G (p.Ser6Ala)
2g.219218175A>GCA350643668ABCB6,ATG9Ac.499T>C (p.Ser167Pro)
c.180T>C
c.252T>C
c.3038T>C
c.302T>C
c.16T>C (p.Ser6Pro)
2g.219218175A>TCA350643669ABCB6,ATG9Ac.499T>A (p.Ser167Thr)
c.180T>A
c.252T>A
c.3038T>A
c.302T>A
c.16T>A (p.Ser6Thr)
2g.219218176C>ACA431273127ABCB6,ATG9Ac.498G>T (p.Val166=)
c.179G>T
c.251G>T
c.3037G>T
c.301G>T
c.15G>T (p.Val5=)
2g.219218176C>GCA431273121ABCB6,ATG9Ac.498G>C (p.Val166=)
c.179G>C
c.251G>C
c.3037G>C
c.301G>C
c.15G>C (p.Val5=)
2g.219218176C>TCA431273124ABCB6,ATG9Ac.498G>A (p.Val166=)
c.179G>A
c.251G>A
c.3037G>A
c.301G>A
c.15G>A (p.Val5=)
2g.219218177A>CCA350643672ABCB6,ATG9Ac.497T>G (p.Val166Gly)
c.178T>G
c.250T>G
c.3036T>G
c.300T>G
c.14T>G (p.Val5Gly)
2g.219218177A>GCA350643674ABCB6,ATG9Ac.497T>C (p.Val166Ala)
c.178T>C
c.250T>C
c.3036T>C
c.300T>C
c.14T>C (p.Val5Ala)
2g.219218177A>TCA350643675ABCB6,ATG9Ac.497T>A (p.Val166Glu)
c.178T>A
c.250T>A
c.3036T>A
c.300T>A
c.14T>A (p.Val5Glu)
2g.219218178C>ACA350643682ABCB6,ATG9Ac.496G>T (p.Val166Leu)
c.177G>T
c.249G>T
c.3035G>T
c.299G>T
c.13G>T (p.Val5Leu)
2g.219218178C>GCA350643678ABCB6,ATG9Ac.496G>C (p.Val166Leu)
c.177G>C
c.249G>C
c.3035G>C
c.299G>C
c.13G>C (p.Val5Leu)
2g.219218178C>TCA350643680ABCB6,ATG9Ac.496G>A (p.Val166Met)
c.177G>A
c.249G>A
c.3035G>A
c.299G>A
c.13G>A (p.Val5Met)
2g.219218179C>ACA431273141ABCB6,ATG9Ac.495G>T (p.Leu165=)
c.176G>T
c.248G>T
c.3034G>T
c.298G>T
c.12G>T (p.Leu4=)
2g.219218179C=CA1329115467ABCB6,ATG9Ac.495G= (p.Leu165=)
c.176G=
c.248G=
c.3034G=
c.298G=
c.12G= (p.Leu4=)
2g.219218179C>GCA431273148ABCB6,ATG9Ac.495G>C (p.Leu165=)
c.176G>C
c.248G>C
c.3034G>C
c.298G>C
c.12G>C (p.Leu4=)
2g.219218179C>TCA431273143ABCB6,ATG9Ac.495G>A (p.Leu165=)
c.176G>A
c.248G>A
c.3034G>A
c.298G>A
c.12G>A (p.Leu4=)
 dbSNP gnomAD v3 gnomAD v4
2g.219218180A>CCA350643685ABCB6,ATG9Ac.494T>G (p.Leu165Arg)
c.175T>G
c.247T>G
c.3033T>G
c.297T>G
c.11T>G (p.Leu4Arg)
2g.219218180A>GCA350643686ABCB6,ATG9Ac.494T>C (p.Leu165Pro)
c.175T>C
c.247T>C
c.3033T>C
c.297T>C
c.11T>C (p.Leu4Pro)
2g.219218180A>TCA350643688ABCB6,ATG9Ac.494T>A (p.Leu165Gln)
c.175T>A
c.247T>A
c.3033T>A
c.297T>A
c.11T>A (p.Leu4Gln)
2g.219218181G>ACA431273155ABCB6,ATG9Ac.493C>T (p.Leu165=)
c.174C>T
c.246C>T
c.3032C>T
c.296C>T
c.10C>T (p.Leu4=)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched