Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.139379725C>ACA361139606SLC23A1c.878G>T (p.Arg293Leu)
c.890G>T (p.Arg297Leu)
c.164+231G>T
n.489G>T
c.998G>T (p.Arg333Leu)
c.986G>T (p.Arg329Leu)
c.779G>T (p.Arg260Leu)
c.683G>T (p.Arg228Leu)
c.563G>T (p.Arg188Leu)
c.173G>T (p.Arg58Leu)
 dbSNP
5g.139379725C=CA1586303664SLC23A1c.878G= (p.Arg293=)
c.890G= (p.Arg297=)
c.164+231G=
n.489G=
c.998G= (p.Arg333=)
c.986G= (p.Arg329=)
c.779G= (p.Arg260=)
c.683G= (p.Arg228=)
c.563G= (p.Arg188=)
c.173G= (p.Arg58=)
5g.139379725C>GCA361139608SLC23A1c.878G>C (p.Arg293Pro)
c.890G>C (p.Arg297Pro)
c.164+231G>C
n.489G>C
c.998G>C (p.Arg333Pro)
c.986G>C (p.Arg329Pro)
c.779G>C (p.Arg260Pro)
c.683G>C (p.Arg228Pro)
c.563G>C (p.Arg188Pro)
c.173G>C (p.Arg58Pro)
5g.139379725C>TCA3434029SLC23A1c.878G>A (p.Arg293His)
c.890G>A (p.Arg297His)
c.164+231G>A
n.489G>A
c.998G>A (p.Arg333His)
c.986G>A (p.Arg329His)
c.779G>A (p.Arg260His)
c.683G>A (p.Arg228His)
c.563G>A (p.Arg188His)
c.173G>A (p.Arg58His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379726G>ACA3434030SLC23A1c.877C>T (p.Arg293Cys)
c.889C>T (p.Arg297Cys)
c.164+230C>T
n.488C>T
c.997C>T (p.Arg333Cys)
c.985C>T (p.Arg329Cys)
c.778C>T (p.Arg260Cys)
c.682C>T (p.Arg228Cys)
c.562C>T (p.Arg188Cys)
c.172C>T (p.Arg58Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.139379726G>CCA361139613SLC23A1c.877C>G (p.Arg293Gly)
c.889C>G (p.Arg297Gly)
c.164+230C>G
n.488C>G
c.997C>G (p.Arg333Gly)
c.985C>G (p.Arg329Gly)
c.778C>G (p.Arg260Gly)
c.682C>G (p.Arg228Gly)
c.562C>G (p.Arg188Gly)
c.172C>G (p.Arg58Gly)
5g.139379726G=CA1586303667SLC23A1c.877C= (p.Arg293=)
c.889C= (p.Arg297=)
c.164+230C=
n.488C=
c.997C= (p.Arg333=)
c.985C= (p.Arg329=)
c.778C= (p.Arg260=)
c.682C= (p.Arg228=)
c.562C= (p.Arg188=)
c.172C= (p.Arg58=)
5g.139379726G>TCA361139615SLC23A1c.877C>A (p.Arg293Ser)
c.889C>A (p.Arg297Ser)
c.164+230C>A
n.488C>A
c.997C>A (p.Arg333Ser)
c.985C>A (p.Arg329Ser)
c.778C>A (p.Arg260Ser)
c.682C>A (p.Arg228Ser)
c.562C>A (p.Arg188Ser)
c.172C>A (p.Arg58Ser)
5g.139379727G>ACA446793948SLC23A1c.876C>T (p.Ala292=)
c.888C>T (p.Ala296=)
c.164+229C>T
n.487C>T
c.996C>T (p.Ala332=)
c.984C>T (p.Ala328=)
c.777C>T (p.Ala259=)
c.681C>T (p.Ala227=)
c.561C>T (p.Ala187=)
c.171C>T (p.Ala57=)
5g.139379727G>CCA446793950SLC23A1c.876C>G (p.Ala292=)
c.888C>G (p.Ala296=)
c.164+229C>G
n.487C>G
c.996C>G (p.Ala332=)
c.984C>G (p.Ala328=)
c.777C>G (p.Ala259=)
c.681C>G (p.Ala227=)
c.561C>G (p.Ala187=)
c.171C>G (p.Ala57=)
5g.139379727G>TCA446793951SLC23A1c.876C>A (p.Ala292=)
c.888C>A (p.Ala296=)
c.164+229C>A
n.487C>A
c.996C>A (p.Ala332=)
c.984C>A (p.Ala328=)
c.777C>A (p.Ala259=)
c.681C>A (p.Ala227=)
c.561C>A (p.Ala187=)
c.171C>A (p.Ala57=)
5g.139379728G>ACA361139618SLC23A1c.875C>T (p.Ala292Val)
c.887C>T (p.Ala296Val)
c.164+228C>T
n.486C>T
c.995C>T (p.Ala332Val)
c.983C>T (p.Ala328Val)
c.776C>T (p.Ala259Val)
c.680C>T (p.Ala227Val)
c.560C>T (p.Ala187Val)
c.170C>T (p.Ala57Val)
 dbSNP gnomAD v4
5g.139379728G>CCA361139620SLC23A1c.875C>G (p.Ala292Gly)
c.887C>G (p.Ala296Gly)
c.164+228C>G
n.486C>G
c.995C>G (p.Ala332Gly)
c.983C>G (p.Ala328Gly)
c.776C>G (p.Ala259Gly)
c.680C>G (p.Ala227Gly)
c.560C>G (p.Ala187Gly)
c.170C>G (p.Ala57Gly)
5g.139379728G=CA1586303670SLC23A1c.875C= (p.Ala292=)
c.887C= (p.Ala296=)
c.164+228C=
n.486C=
c.995C= (p.Ala332=)
c.983C= (p.Ala328=)
c.776C= (p.Ala259=)
c.680C= (p.Ala227=)
c.560C= (p.Ala187=)
c.170C= (p.Ala57=)
5g.139379728G>TCA361139622SLC23A1c.875C>A (p.Ala292Asp)
c.887C>A (p.Ala296Asp)
c.164+228C>A
n.486C>A
c.995C>A (p.Ala332Asp)
c.983C>A (p.Ala328Asp)
c.776C>A (p.Ala259Asp)
c.680C>A (p.Ala227Asp)
c.560C>A (p.Ala187Asp)
c.170C>A (p.Ala57Asp)
 dbSNP gnomAD v3 gnomAD v4
5g.139379729C>ACA361139624SLC23A1c.874G>T (p.Ala292Ser)
c.886G>T (p.Ala296Ser)
c.164+227G>T
n.485G>T
c.994G>T (p.Ala332Ser)
c.982G>T (p.Ala328Ser)
c.775G>T (p.Ala259Ser)
c.679G>T (p.Ala227Ser)
c.559G>T (p.Ala187Ser)
c.169G>T (p.Ala57Ser)
5g.139379729C=CA1586303674SLC23A1c.874G= (p.Ala292=)
c.886G= (p.Ala296=)
c.164+227G=
n.485G=
c.994G= (p.Ala332=)
c.982G= (p.Ala328=)
c.775G= (p.Ala259=)
c.679G= (p.Ala227=)
c.559G= (p.Ala187=)
c.169G= (p.Ala57=)
5g.139379729C>GCA361139623SLC23A1c.874G>C (p.Ala292Pro)
c.886G>C (p.Ala296Pro)
c.164+227G>C
n.485G>C
c.994G>C (p.Ala332Pro)
c.982G>C (p.Ala328Pro)
c.775G>C (p.Ala259Pro)
c.679G>C (p.Ala227Pro)
c.559G>C (p.Ala187Pro)
c.169G>C (p.Ala57Pro)
5g.139379729C>TCA3434031SLC23A1c.874G>A (p.Ala292Thr)
c.886G>A (p.Ala296Thr)
c.164+227G>A
n.485G>A
c.994G>A (p.Ala332Thr)
c.982G>A (p.Ala328Thr)
c.775G>A (p.Ala259Thr)
c.679G>A (p.Ala227Thr)
c.559G>A (p.Ala187Thr)
c.169G>A (p.Ala57Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379730A=CA1586303679SLC23A1c.873T= (p.Asp291=)
c.885T= (p.Asp295=)
c.164+226T=
n.484T=
c.993T= (p.Asp331=)
c.981T= (p.Asp327=)
c.774T= (p.Asp258=)
c.678T= (p.Asp226=)
c.558T= (p.Asp186=)
c.168T= (p.Asp56=)
5g.139379730A>CCA361139625SLC23A1c.873T>G (p.Asp291Glu)
c.885T>G (p.Asp295Glu)
c.164+226T>G
n.484T>G
c.993T>G (p.Asp331Glu)
c.981T>G (p.Asp327Glu)
c.774T>G (p.Asp258Glu)
c.678T>G (p.Asp226Glu)
c.558T>G (p.Asp186Glu)
c.168T>G (p.Asp56Glu)
5g.139379730A>GCA3434032SLC23A1c.873T>C (p.Asp291=)
c.885T>C (p.Asp295=)
c.164+226T>C
n.484T>C
c.993T>C (p.Asp331=)
c.981T>C (p.Asp327=)
c.774T>C (p.Asp258=)
c.678T>C (p.Asp226=)
c.558T>C (p.Asp186=)
c.168T>C (p.Asp56=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379730A>TCA361139626SLC23A1c.873T>A (p.Asp291Glu)
c.885T>A (p.Asp295Glu)
c.164+226T>A
n.484T>A
c.993T>A (p.Asp331Glu)
c.981T>A (p.Asp327Glu)
c.774T>A (p.Asp258Glu)
c.678T>A (p.Asp226Glu)
c.558T>A (p.Asp186Glu)
c.168T>A (p.Asp56Glu)
 gnomAD v4
5g.139379731T>ACA361139627SLC23A1c.872A>T (p.Asp291Val)
c.884A>T (p.Asp295Val)
c.164+225A>T
n.483A>T
c.992A>T (p.Asp331Val)
c.980A>T (p.Asp327Val)
c.773A>T (p.Asp258Val)
c.677A>T (p.Asp226Val)
c.557A>T (p.Asp186Val)
c.167A>T (p.Asp56Val)
5g.139379731T>CCA361139628SLC23A1c.872A>G (p.Asp291Gly)
c.884A>G (p.Asp295Gly)
c.164+225A>G
n.483A>G
c.992A>G (p.Asp331Gly)
c.980A>G (p.Asp327Gly)
c.773A>G (p.Asp258Gly)
c.677A>G (p.Asp226Gly)
c.557A>G (p.Asp186Gly)
c.167A>G (p.Asp56Gly)
5g.139379731T>GCA361139629SLC23A1c.872A>C (p.Asp291Ala)
c.884A>C (p.Asp295Ala)
c.164+225A>C
n.483A>C
c.992A>C (p.Asp331Ala)
c.980A>C (p.Asp327Ala)
c.773A>C (p.Asp258Ala)
c.677A>C (p.Asp226Ala)
c.557A>C (p.Asp186Ala)
c.167A>C (p.Asp56Ala)
5g.139379732C>ACA361139631SLC23A1c.871G>T (p.Asp291Tyr)
c.883G>T (p.Asp295Tyr)
c.164+224G>T
n.482G>T
c.991G>T (p.Asp331Tyr)
c.979G>T (p.Asp327Tyr)
c.772G>T (p.Asp258Tyr)
c.676G>T (p.Asp226Tyr)
c.556G>T (p.Asp186Tyr)
c.166G>T (p.Asp56Tyr)
5g.139379732C=CA1586303684SLC23A1c.871G= (p.Asp291=)
c.883G= (p.Asp295=)
c.164+224G=
n.482G=
c.991G= (p.Asp331=)
c.979G= (p.Asp327=)
c.772G= (p.Asp258=)
c.676G= (p.Asp226=)
c.556G= (p.Asp186=)
c.166G= (p.Asp56=)
5g.139379732C>GCA361139634SLC23A1c.871G>C (p.Asp291His)
c.883G>C (p.Asp295His)
c.164+224G>C
n.482G>C
c.991G>C (p.Asp331His)
c.979G>C (p.Asp327His)
c.772G>C (p.Asp258His)
c.676G>C (p.Asp226His)
c.556G>C (p.Asp186His)
c.166G>C (p.Asp56His)
5g.139379732C>TCA3434033SLC23A1c.871G>A (p.Asp291Asn)
c.883G>A (p.Asp295Asn)
c.164+224G>A
n.482G>A
c.991G>A (p.Asp331Asn)
c.979G>A (p.Asp327Asn)
c.772G>A (p.Asp258Asn)
c.676G>A (p.Asp226Asn)
c.556G>A (p.Asp186Asn)
c.166G>A (p.Asp56Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379733G>ACA128242352SLC23A1c.870C>T (p.Thr290=)
c.882C>T (p.Thr294=)
c.164+223C>T
n.481C>T
c.990C>T (p.Thr330=)
c.978C>T (p.Thr326=)
c.771C>T (p.Thr257=)
c.675C>T (p.Thr225=)
c.555C>T (p.Thr185=)
c.165C>T (p.Thr55=)
 dbSNP gnomAD v3 gnomAD v4
5g.139379733G>CCA446793957SLC23A1c.870C>G (p.Thr290=)
c.882C>G (p.Thr294=)
c.164+223C>G
n.481C>G
c.990C>G (p.Thr330=)
c.978C>G (p.Thr326=)
c.771C>G (p.Thr257=)
c.675C>G (p.Thr225=)
c.555C>G (p.Thr185=)
c.165C>G (p.Thr55=)
5g.139379733G=CA1586303687SLC23A1c.870C= (p.Thr290=)
c.882C= (p.Thr294=)
c.164+223C=
n.481C=
c.990C= (p.Thr330=)
c.978C= (p.Thr326=)
c.771C= (p.Thr257=)
c.675C= (p.Thr225=)
c.555C= (p.Thr185=)
c.165C= (p.Thr55=)
5g.139379733G>TCA3434034SLC23A1c.870C>A (p.Thr290=)
c.882C>A (p.Thr294=)
c.164+223C>A
n.481C>A
c.990C>A (p.Thr330=)
c.978C>A (p.Thr326=)
c.771C>A (p.Thr257=)
c.675C>A (p.Thr225=)
c.555C>A (p.Thr185=)
c.165C>A (p.Thr55=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379734G>ACA361139644SLC23A1c.869C>T (p.Thr290Ile)
c.881C>T (p.Thr294Ile)
c.164+222C>T
n.480C>T
c.989C>T (p.Thr330Ile)
c.977C>T (p.Thr326Ile)
c.770C>T (p.Thr257Ile)
c.674C>T (p.Thr225Ile)
c.554C>T (p.Thr185Ile)
c.164C>T (p.Thr55Ile)
5g.139379734G>CCA361139643SLC23A1c.869C>G (p.Thr290Ser)
c.881C>G (p.Thr294Ser)
c.164+222C>G
n.480C>G
c.989C>G (p.Thr330Ser)
c.977C>G (p.Thr326Ser)
c.770C>G (p.Thr257Ser)
c.674C>G (p.Thr225Ser)
c.554C>G (p.Thr185Ser)
c.164C>G (p.Thr55Ser)
 gnomAD v4
5g.139379734G>TCA361139641SLC23A1c.869C>A (p.Thr290Asn)
c.881C>A (p.Thr294Asn)
c.164+222C>A
n.480C>A
c.989C>A (p.Thr330Asn)
c.977C>A (p.Thr326Asn)
c.770C>A (p.Thr257Asn)
c.674C>A (p.Thr225Asn)
c.554C>A (p.Thr185Asn)
c.164C>A (p.Thr55Asn)
5g.139379735T>ACA361139646SLC23A1c.868A>T (p.Thr290Ser)
c.880A>T (p.Thr294Ser)
c.164+221A>T
n.479A>T
c.988A>T (p.Thr330Ser)
c.976A>T (p.Thr326Ser)
c.769A>T (p.Thr257Ser)
c.673A>T (p.Thr225Ser)
c.553A>T (p.Thr185Ser)
c.163A>T (p.Thr55Ser)
5g.139379735T>CCA361139648SLC23A1c.868A>G (p.Thr290Ala)
c.880A>G (p.Thr294Ala)
c.164+221A>G
n.479A>G
c.988A>G (p.Thr330Ala)
c.976A>G (p.Thr326Ala)
c.769A>G (p.Thr257Ala)
c.673A>G (p.Thr225Ala)
c.553A>G (p.Thr185Ala)
c.163A>G (p.Thr55Ala)
5g.139379735T>GCA361139651SLC23A1c.868A>C (p.Thr290Pro)
c.880A>C (p.Thr294Pro)
c.164+221A>C
n.479A>C
c.988A>C (p.Thr330Pro)
c.976A>C (p.Thr326Pro)
c.769A>C (p.Thr257Pro)
c.673A>C (p.Thr225Pro)
c.553A>C (p.Thr185Pro)
c.163A>C (p.Thr55Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139379735T=CA1586303691SLC23A1c.868A= (p.Thr290=)
c.880A= (p.Thr294=)
c.164+221A=
n.479A=
c.988A= (p.Thr330=)
c.976A= (p.Thr326=)
c.769A= (p.Thr257=)
c.673A= (p.Thr225=)
c.553A= (p.Thr185=)
c.163A= (p.Thr55=)
5g.139379736T>ACA446793961SLC23A1c.867A>T (p.Arg289=)
c.879A>T (p.Arg293=)
c.164+220A>T
n.478A>T
c.987A>T (p.Arg329=)
c.975A>T (p.Arg325=)
c.768A>T (p.Arg256=)
c.672A>T (p.Arg224=)
c.552A>T (p.Arg184=)
c.162A>T (p.Arg54=)
5g.139379736T>CCA446793963SLC23A1c.867A>G (p.Arg289=)
c.879A>G (p.Arg293=)
c.164+220A>G
n.478A>G
c.987A>G (p.Arg329=)
c.975A>G (p.Arg325=)
c.768A>G (p.Arg256=)
c.672A>G (p.Arg224=)
c.552A>G (p.Arg184=)
c.162A>G (p.Arg54=)
5g.139379736T>GCA446793962SLC23A1c.867A>C (p.Arg289=)
c.879A>C (p.Arg293=)
c.164+220A>C
n.478A>C
c.987A>C (p.Arg329=)
c.975A>C (p.Arg325=)
c.768A>C (p.Arg256=)
c.672A>C (p.Arg224=)
c.552A>C (p.Arg184=)
c.162A>C (p.Arg54=)
5g.139379737C>ACA361139654SLC23A1c.866G>T (p.Arg289Leu)
c.878G>T (p.Arg293Leu)
c.164+219G>T
n.477G>T
c.986G>T (p.Arg329Leu)
c.974G>T (p.Arg325Leu)
c.767G>T (p.Arg256Leu)
c.671G>T (p.Arg224Leu)
c.551G>T (p.Arg184Leu)
c.161G>T (p.Arg54Leu)
5g.139379737C=CA1586303696SLC23A1c.866G= (p.Arg289=)
c.878G= (p.Arg293=)
c.164+219G=
n.477G=
c.986G= (p.Arg329=)
c.974G= (p.Arg325=)
c.767G= (p.Arg256=)
c.671G= (p.Arg224=)
c.551G= (p.Arg184=)
c.161G= (p.Arg54=)
5g.139379737C>GCA361139656SLC23A1c.866G>C (p.Arg289Pro)
c.878G>C (p.Arg293Pro)
c.164+219G>C
n.477G>C
c.986G>C (p.Arg329Pro)
c.974G>C (p.Arg325Pro)
c.767G>C (p.Arg256Pro)
c.671G>C (p.Arg224Pro)
c.551G>C (p.Arg184Pro)
c.161G>C (p.Arg54Pro)
5g.139379737C>TCA361139659SLC23A1c.866G>A (p.Arg289Gln)
c.878G>A (p.Arg293Gln)
c.164+219G>A
n.477G>A
c.986G>A (p.Arg329Gln)
c.974G>A (p.Arg325Gln)
c.767G>A (p.Arg256Gln)
c.671G>A (p.Arg224Gln)
c.551G>A (p.Arg184Gln)
c.161G>A (p.Arg54Gln)
 dbSNP gnomAD v4
5g.139379738G>ACA3434035SLC23A1c.865C>T (p.Arg289Ter)
c.877C>T (p.Arg293Ter)
c.164+218C>T
n.476C>T
c.985C>T (p.Arg329Ter)
c.973C>T (p.Arg325Ter)
c.766C>T (p.Arg256Ter)
c.670C>T (p.Arg224Ter)
c.550C>T (p.Arg184Ter)
c.160C>T (p.Arg54Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379738G>CCA128242421SLC23A1c.865C>G (p.Arg289Gly)
c.877C>G (p.Arg293Gly)
c.164+218C>G
n.476C>G
c.985C>G (p.Arg329Gly)
c.973C>G (p.Arg325Gly)
c.766C>G (p.Arg256Gly)
c.670C>G (p.Arg224Gly)
c.550C>G (p.Arg184Gly)
c.160C>G (p.Arg54Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.139379738G=CA1586303700SLC23A1c.865C= (p.Arg289=)
c.877C= (p.Arg293=)
c.164+218C=
n.476C=
c.985C= (p.Arg329=)
c.973C= (p.Arg325=)
c.766C= (p.Arg256=)
c.670C= (p.Arg224=)
c.550C= (p.Arg184=)
c.160C= (p.Arg54=)
5g.139379738G>TCA446793964SLC23A1c.865C>A (p.Arg289=)
c.877C>A (p.Arg293=)
c.164+218C>A
n.476C>A
c.985C>A (p.Arg329=)
c.973C>A (p.Arg325=)
c.766C>A (p.Arg256=)
c.670C>A (p.Arg224=)
c.550C>A (p.Arg184=)
c.160C>A (p.Arg54=)
 dbSNP gnomAD v2 gnomAD v4
5g.139379739T>ACA446793965SLC23A1c.864A>T (p.Ala288=)
c.876A>T (p.Ala292=)
c.164+217A>T
n.475A>T
c.984A>T (p.Ala328=)
c.972A>T (p.Ala324=)
c.765A>T (p.Ala255=)
c.669A>T (p.Ala223=)
c.549A>T (p.Ala183=)
c.159A>T (p.Ala53=)
5g.139379739T>CCA446793967SLC23A1c.864A>G (p.Ala288=)
c.876A>G (p.Ala292=)
c.164+217A>G
n.475A>G
c.984A>G (p.Ala328=)
c.972A>G (p.Ala324=)
c.765A>G (p.Ala255=)
c.669A>G (p.Ala223=)
c.549A>G (p.Ala183=)
c.159A>G (p.Ala53=)
5g.139379739T>GCA446793968SLC23A1c.864A>C (p.Ala288=)
c.876A>C (p.Ala292=)
c.164+217A>C
n.475A>C
c.984A>C (p.Ala328=)
c.972A>C (p.Ala324=)
c.765A>C (p.Ala255=)
c.669A>C (p.Ala223=)
c.549A>C (p.Ala183=)
c.159A>C (p.Ala53=)
5g.139379740G>ACA361139662SLC23A1c.863C>T (p.Ala288Val)
c.875C>T (p.Ala292Val)
c.164+216C>T
n.474C>T
c.983C>T (p.Ala328Val)
c.971C>T (p.Ala324Val)
c.764C>T (p.Ala255Val)
c.668C>T (p.Ala223Val)
c.548C>T (p.Ala183Val)
c.158C>T (p.Ala53Val)
5g.139379740G>CCA361139663SLC23A1c.863C>G (p.Ala288Gly)
c.875C>G (p.Ala292Gly)
c.164+216C>G
n.474C>G
c.983C>G (p.Ala328Gly)
c.971C>G (p.Ala324Gly)
c.764C>G (p.Ala255Gly)
c.668C>G (p.Ala223Gly)
c.548C>G (p.Ala183Gly)
c.158C>G (p.Ala53Gly)
5g.139379740G>TCA361139664SLC23A1c.863C>A (p.Ala288Glu)
c.875C>A (p.Ala292Glu)
c.164+216C>A
n.474C>A
c.983C>A (p.Ala328Glu)
c.971C>A (p.Ala324Glu)
c.764C>A (p.Ala255Glu)
c.668C>A (p.Ala223Glu)
c.548C>A (p.Ala183Glu)
c.158C>A (p.Ala53Glu)
 gnomAD v4
5g.139379741C>ACA361139667SLC23A1c.862G>T (p.Ala288Ser)
c.874G>T (p.Ala292Ser)
c.164+215G>T
n.473G>T
c.982G>T (p.Ala328Ser)
c.970G>T (p.Ala324Ser)
c.763G>T (p.Ala255Ser)
c.667G>T (p.Ala223Ser)
c.547G>T (p.Ala183Ser)
c.157G>T (p.Ala53Ser)
 gnomAD v4
5g.139379741C>GCA361139666SLC23A1c.862G>C (p.Ala288Pro)
c.874G>C (p.Ala292Pro)
c.164+215G>C
n.473G>C
c.982G>C (p.Ala328Pro)
c.970G>C (p.Ala324Pro)
c.763G>C (p.Ala255Pro)
c.667G>C (p.Ala223Pro)
c.547G>C (p.Ala183Pro)
c.157G>C (p.Ala53Pro)
5g.139379741C>TCA361139665SLC23A1c.862G>A (p.Ala288Thr)
c.874G>A (p.Ala292Thr)
c.164+215G>A
n.473G>A
c.982G>A (p.Ala328Thr)
c.970G>A (p.Ala324Thr)
c.763G>A (p.Ala255Thr)
c.667G>A (p.Ala223Thr)
c.547G>A (p.Ala183Thr)
c.157G>A (p.Ala53Thr)
5g.139379742C>ACA361139668SLC23A1c.861G>T (p.Gln287His)
c.873G>T (p.Gln291His)
c.164+214G>T
n.472G>T
c.981G>T (p.Gln327His)
c.969G>T (p.Gln323His)
c.762G>T (p.Gln254His)
c.666G>T (p.Gln222His)
c.546G>T (p.Gln182His)
c.156G>T (p.Gln52His)
5g.139379742C>GCA361139669SLC23A1c.861G>C (p.Gln287His)
c.873G>C (p.Gln291His)
c.164+214G>C
n.472G>C
c.981G>C (p.Gln327His)
c.969G>C (p.Gln323His)
c.762G>C (p.Gln254His)
c.666G>C (p.Gln222His)
c.546G>C (p.Gln182His)
c.156G>C (p.Gln52His)
5g.139379742C>TCA446793970SLC23A1c.861G>A (p.Gln287=)
c.873G>A (p.Gln291=)
c.164+214G>A
n.472G>A
c.981G>A (p.Gln327=)
c.969G>A (p.Gln323=)
c.762G>A (p.Gln254=)
c.666G>A (p.Gln222=)
c.546G>A (p.Gln182=)
c.156G>A (p.Gln52=)
5g.139379743T>ACA361139670SLC23A1c.860A>T (p.Gln287Leu)
c.872A>T (p.Gln291Leu)
c.164+213A>T
n.471A>T
c.980A>T (p.Gln327Leu)
c.968A>T (p.Gln323Leu)
c.761A>T (p.Gln254Leu)
c.665A>T (p.Gln222Leu)
c.545A>T (p.Gln182Leu)
c.155A>T (p.Gln52Leu)
5g.139379743T>CCA361139671SLC23A1c.860A>G (p.Gln287Arg)
c.872A>G (p.Gln291Arg)
c.164+213A>G
n.471A>G
c.980A>G (p.Gln327Arg)
c.968A>G (p.Gln323Arg)
c.761A>G (p.Gln254Arg)
c.665A>G (p.Gln222Arg)
c.545A>G (p.Gln182Arg)
c.155A>G (p.Gln52Arg)
 dbSNP gnomAD v4
5g.139379743T>GCA361139672SLC23A1c.860A>C (p.Gln287Pro)
c.872A>C (p.Gln291Pro)
c.164+213A>C
n.471A>C
c.980A>C (p.Gln327Pro)
c.968A>C (p.Gln323Pro)
c.761A>C (p.Gln254Pro)
c.665A>C (p.Gln222Pro)
c.545A>C (p.Gln182Pro)
c.155A>C (p.Gln52Pro)
5g.139379743T=CA1586303704SLC23A1c.860A= (p.Gln287=)
c.872A= (p.Gln291=)
c.164+213A=
n.471A=
c.980A= (p.Gln327=)
c.968A= (p.Gln323=)
c.761A= (p.Gln254=)
c.665A= (p.Gln222=)
c.545A= (p.Gln182=)
c.155A= (p.Gln52=)
5g.139379744G>ACA361139673SLC23A1c.859C>T (p.Gln287Ter)
c.871C>T (p.Gln291Ter)
c.164+212C>T
n.470C>T
c.979C>T (p.Gln327Ter)
c.967C>T (p.Gln323Ter)
c.760C>T (p.Gln254Ter)
c.664C>T (p.Gln222Ter)
c.544C>T (p.Gln182Ter)
c.154C>T (p.Gln52Ter)
 gnomAD v4
5g.139379744G>CCA361139674SLC23A1c.859C>G (p.Gln287Glu)
c.871C>G (p.Gln291Glu)
c.164+212C>G
n.470C>G
c.979C>G (p.Gln327Glu)
c.967C>G (p.Gln323Glu)
c.760C>G (p.Gln254Glu)
c.664C>G (p.Gln222Glu)
c.544C>G (p.Gln182Glu)
c.154C>G (p.Gln52Glu)
5g.139379744G>TCA361139675SLC23A1c.859C>A (p.Gln287Lys)
c.871C>A (p.Gln291Lys)
c.164+212C>A
n.470C>A
c.979C>A (p.Gln327Lys)
c.967C>A (p.Gln323Lys)
c.760C>A (p.Gln254Lys)
c.664C>A (p.Gln222Lys)
c.544C>A (p.Gln182Lys)
c.154C>A (p.Gln52Lys)
5g.139379745G>ACA446793973SLC23A1c.858C>T (p.Phe286=)
c.870C>T (p.Phe290=)
c.164+211C>T
n.469C>T
c.978C>T (p.Phe326=)
c.966C>T (p.Phe322=)
c.759C>T (p.Phe253=)
c.663C>T (p.Phe221=)
c.543C>T (p.Phe181=)
c.153C>T (p.Phe51=)
5g.139379745G>CCA361139676SLC23A1c.858C>G (p.Phe286Leu)
c.870C>G (p.Phe290Leu)
c.164+211C>G
n.469C>G
c.978C>G (p.Phe326Leu)
c.966C>G (p.Phe322Leu)
c.759C>G (p.Phe253Leu)
c.663C>G (p.Phe221Leu)
c.543C>G (p.Phe181Leu)
c.153C>G (p.Phe51Leu)
5g.139379745G=CA1586303708SLC23A1c.858C= (p.Phe286=)
c.870C= (p.Phe290=)
c.164+211C=
n.469C=
c.978C= (p.Phe326=)
c.966C= (p.Phe322=)
c.759C= (p.Phe253=)
c.663C= (p.Phe221=)
c.543C= (p.Phe181=)
c.153C= (p.Phe51=)
5g.139379745G>TCA128242423SLC23A1c.858C>A (p.Phe286Leu)
c.870C>A (p.Phe290Leu)
c.164+211C>A
n.469C>A
c.978C>A (p.Phe326Leu)
c.966C>A (p.Phe322Leu)
c.759C>A (p.Phe253Leu)
c.663C>A (p.Phe221Leu)
c.543C>A (p.Phe181Leu)
c.153C>A (p.Phe51Leu)
 dbSNP gnomAD v3 gnomAD v4
5g.139379746A>CCA361139677SLC23A1c.857T>G (p.Phe286Cys)
c.869T>G (p.Phe290Cys)
c.164+210T>G
n.468T>G
c.977T>G (p.Phe326Cys)
c.965T>G (p.Phe322Cys)
c.758T>G (p.Phe253Cys)
c.662T>G (p.Phe221Cys)
c.542T>G (p.Phe181Cys)
c.152T>G (p.Phe51Cys)
5g.139379746A>GCA361139678SLC23A1c.857T>C (p.Phe286Ser)
c.869T>C (p.Phe290Ser)
c.164+210T>C
n.468T>C
c.977T>C (p.Phe326Ser)
c.965T>C (p.Phe322Ser)
c.758T>C (p.Phe253Ser)
c.662T>C (p.Phe221Ser)
c.542T>C (p.Phe181Ser)
c.152T>C (p.Phe51Ser)
5g.139379746A>TCA361139679SLC23A1c.857T>A (p.Phe286Tyr)
c.869T>A (p.Phe290Tyr)
c.164+210T>A
n.468T>A
c.977T>A (p.Phe326Tyr)
c.965T>A (p.Phe322Tyr)
c.758T>A (p.Phe253Tyr)
c.662T>A (p.Phe221Tyr)
c.542T>A (p.Phe181Tyr)
c.152T>A (p.Phe51Tyr)
5g.139379747A>CCA361139681SLC23A1c.856T>G (p.Phe286Val)
c.868T>G (p.Phe290Val)
c.164+209T>G
n.467T>G
c.976T>G (p.Phe326Val)
c.964T>G (p.Phe322Val)
c.757T>G (p.Phe253Val)
c.661T>G (p.Phe221Val)
c.541T>G (p.Phe181Val)
c.151T>G (p.Phe51Val)
5g.139379747A>GCA361139682SLC23A1c.856T>C (p.Phe286Leu)
c.868T>C (p.Phe290Leu)
c.164+209T>C
n.467T>C
c.976T>C (p.Phe326Leu)
c.964T>C (p.Phe322Leu)
c.757T>C (p.Phe253Leu)
c.661T>C (p.Phe221Leu)
c.541T>C (p.Phe181Leu)
c.151T>C (p.Phe51Leu)
5g.139379747A>TCA361139680SLC23A1c.856T>A (p.Phe286Ile)
c.868T>A (p.Phe290Ile)
c.164+209T>A
n.467T>A
c.976T>A (p.Phe326Ile)
c.964T>A (p.Phe322Ile)
c.757T>A (p.Phe253Ile)
c.661T>A (p.Phe221Ile)
c.541T>A (p.Phe181Ile)
c.151T>A (p.Phe51Ile)
5g.139379748G>ACA446793978SLC23A1c.855C>T (p.Gly285=)
c.867C>T (p.Gly289=)
c.164+208C>T
n.466C>T
c.975C>T (p.Gly325=)
c.963C>T (p.Gly321=)
c.756C>T (p.Gly252=)
c.660C>T (p.Gly220=)
c.540C>T (p.Gly180=)
c.150C>T (p.Gly50=)
 gnomAD v4
5g.139379748G>CCA446793979SLC23A1c.855C>G (p.Gly285=)
c.867C>G (p.Gly289=)
c.164+208C>G
n.466C>G
c.975C>G (p.Gly325=)
c.963C>G (p.Gly321=)
c.756C>G (p.Gly252=)
c.660C>G (p.Gly220=)
c.540C>G (p.Gly180=)
c.150C>G (p.Gly50=)
5g.139379748G>TCA446793980SLC23A1c.855C>A (p.Gly285=)
c.867C>A (p.Gly289=)
c.164+208C>A
n.466C>A
c.975C>A (p.Gly325=)
c.963C>A (p.Gly321=)
c.756C>A (p.Gly252=)
c.660C>A (p.Gly220=)
c.540C>A (p.Gly180=)
c.150C>A (p.Gly50=)
5g.139379749C>ACA361139685SLC23A1c.854G>T (p.Gly285Val)
c.866G>T (p.Gly289Val)
c.164+207G>T
n.465G>T
c.974G>T (p.Gly325Val)
c.962G>T (p.Gly321Val)
c.755G>T (p.Gly252Val)
c.659G>T (p.Gly220Val)
c.539G>T (p.Gly180Val)
c.149G>T (p.Gly50Val)
5g.139379749C>GCA361139683SLC23A1c.854G>C (p.Gly285Ala)
c.866G>C (p.Gly289Ala)
c.164+207G>C
n.465G>C
c.974G>C (p.Gly325Ala)
c.962G>C (p.Gly321Ala)
c.755G>C (p.Gly252Ala)
c.659G>C (p.Gly220Ala)
c.539G>C (p.Gly180Ala)
c.149G>C (p.Gly50Ala)
 gnomAD v4
5g.139379749C>TCA361139684SLC23A1c.854G>A (p.Gly285Asp)
c.866G>A (p.Gly289Asp)
c.164+207G>A
n.465G>A
c.974G>A (p.Gly325Asp)
c.962G>A (p.Gly321Asp)
c.755G>A (p.Gly252Asp)
c.659G>A (p.Gly220Asp)
c.539G>A (p.Gly180Asp)
c.149G>A (p.Gly50Asp)
 gnomAD v4
5g.139379750C>ACA361139686SLC23A1c.853G>T (p.Gly285Cys)
c.865G>T (p.Gly289Cys)
c.164+206G>T
n.464G>T
c.973G>T (p.Gly325Cys)
c.961G>T (p.Gly321Cys)
c.754G>T (p.Gly252Cys)
c.658G>T (p.Gly220Cys)
c.538G>T (p.Gly180Cys)
c.148G>T (p.Gly50Cys)
 dbSNP gnomAD v2 gnomAD v4
5g.139379750C=CA1586303712SLC23A1c.853G= (p.Gly285=)
c.865G= (p.Gly289=)
c.164+206G=
n.464G=
c.973G= (p.Gly325=)
c.961G= (p.Gly321=)
c.754G= (p.Gly252=)
c.658G= (p.Gly220=)
c.538G= (p.Gly180=)
c.148G= (p.Gly50=)
5g.139379750C>GCA361139687SLC23A1c.853G>C (p.Gly285Arg)
c.865G>C (p.Gly289Arg)
c.164+206G>C
n.464G>C
c.973G>C (p.Gly325Arg)
c.961G>C (p.Gly321Arg)
c.754G>C (p.Gly252Arg)
c.658G>C (p.Gly220Arg)
c.538G>C (p.Gly180Arg)
c.148G>C (p.Gly50Arg)
5g.139379750C>TCA361139688SLC23A1c.853G>A (p.Gly285Ser)
c.865G>A (p.Gly289Ser)
c.164+206G>A
n.464G>A
c.973G>A (p.Gly325Ser)
c.961G>A (p.Gly321Ser)
c.754G>A (p.Gly252Ser)
c.658G>A (p.Gly220Ser)
c.538G>A (p.Gly180Ser)
c.148G>A (p.Gly50Ser)
 gnomAD v4
5g.139379751A=CA1586303715SLC23A1c.852T= (p.Tyr284=)
c.864T= (p.Tyr288=)
c.164+205T=
n.463T=
c.972T= (p.Tyr324=)
c.960T= (p.Tyr320=)
c.753T= (p.Tyr251=)
c.657T= (p.Tyr219=)
c.537T= (p.Tyr179=)
c.147T= (p.Tyr49=)
5g.139379751A>CCA361139690SLC23A1c.852T>G (p.Tyr284Ter)
c.864T>G (p.Tyr288Ter)
c.164+205T>G
n.463T>G
c.972T>G (p.Tyr324Ter)
c.960T>G (p.Tyr320Ter)
c.753T>G (p.Tyr251Ter)
c.657T>G (p.Tyr219Ter)
c.537T>G (p.Tyr179Ter)
c.147T>G (p.Tyr49Ter)
 gnomAD v4
5g.139379751A>GCA128242427SLC23A1c.852T>C (p.Tyr284=)
c.864T>C (p.Tyr288=)
c.164+205T>C
n.463T>C
c.972T>C (p.Tyr324=)
c.960T>C (p.Tyr320=)
c.753T>C (p.Tyr251=)
c.657T>C (p.Tyr219=)
c.537T>C (p.Tyr179=)
c.147T>C (p.Tyr49=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139379751A>TCA361139689SLC23A1c.852T>A (p.Tyr284Ter)
c.864T>A (p.Tyr288Ter)
c.164+205T>A
n.463T>A
c.972T>A (p.Tyr324Ter)
c.960T>A (p.Tyr320Ter)
c.753T>A (p.Tyr251Ter)
c.657T>A (p.Tyr219Ter)
c.537T>A (p.Tyr179Ter)
c.147T>A (p.Tyr49Ter)
5g.139379752T>ACA361139691SLC23A1c.851A>T (p.Tyr284Phe)
c.863A>T (p.Tyr288Phe)
c.164+204A>T
n.462A>T
c.971A>T (p.Tyr324Phe)
c.959A>T (p.Tyr320Phe)
c.752A>T (p.Tyr251Phe)
c.656A>T (p.Tyr219Phe)
c.536A>T (p.Tyr179Phe)
c.146A>T (p.Tyr49Phe)
5g.139379752T>CCA361139692SLC23A1c.851A>G (p.Tyr284Cys)
c.863A>G (p.Tyr288Cys)
c.164+204A>G
n.462A>G
c.971A>G (p.Tyr324Cys)
c.959A>G (p.Tyr320Cys)
c.752A>G (p.Tyr251Cys)
c.656A>G (p.Tyr219Cys)
c.536A>G (p.Tyr179Cys)
c.146A>G (p.Tyr49Cys)
 gnomAD v4
5g.139379752T>GCA361139693SLC23A1c.851A>C (p.Tyr284Ser)
c.863A>C (p.Tyr288Ser)
c.164+204A>C
n.462A>C
c.971A>C (p.Tyr324Ser)
c.959A>C (p.Tyr320Ser)
c.752A>C (p.Tyr251Ser)
c.656A>C (p.Tyr219Ser)
c.536A>C (p.Tyr179Ser)
c.146A>C (p.Tyr49Ser)
 dbSNP gnomAD v4
5g.139379752T=CA1586303718SLC23A1c.851A= (p.Tyr284=)
c.863A= (p.Tyr288=)
c.164+204A=
n.462A=
c.971A= (p.Tyr324=)
c.959A= (p.Tyr320=)
c.752A= (p.Tyr251=)
c.656A= (p.Tyr219=)
c.536A= (p.Tyr179=)
c.146A= (p.Tyr49=)
5g.139379753A>CCA361139694SLC23A1c.850T>G (p.Tyr284Asp)
c.862T>G (p.Tyr288Asp)
c.164+203T>G
n.461T>G
c.970T>G (p.Tyr324Asp)
c.958T>G (p.Tyr320Asp)
c.751T>G (p.Tyr251Asp)
c.655T>G (p.Tyr219Asp)
c.535T>G (p.Tyr179Asp)
c.145T>G (p.Tyr49Asp)
5g.139379753A>GCA361139695SLC23A1c.850T>C (p.Tyr284His)
c.862T>C (p.Tyr288His)
c.164+203T>C
n.461T>C
c.970T>C (p.Tyr324His)
c.958T>C (p.Tyr320His)
c.751T>C (p.Tyr251His)
c.655T>C (p.Tyr219His)
c.535T>C (p.Tyr179His)
c.145T>C (p.Tyr49His)
5g.139379753A>TCA361139696SLC23A1c.850T>A (p.Tyr284Asn)
c.862T>A (p.Tyr288Asn)
c.164+203T>A
n.461T>A
c.970T>A (p.Tyr324Asn)
c.958T>A (p.Tyr320Asn)
c.751T>A (p.Tyr251Asn)
c.655T>A (p.Tyr219Asn)
c.535T>A (p.Tyr179Asn)
c.145T>A (p.Tyr49Asn)
5g.139379754G>ACA446793982SLC23A1c.849C>T (p.Ala283=)
c.861C>T (p.Ala287=)
c.164+202C>T
n.460C>T
c.969C>T (p.Ala323=)
c.957C>T (p.Ala319=)
c.750C>T (p.Ala250=)
c.654C>T (p.Ala218=)
c.534C>T (p.Ala178=)
c.144C>T (p.Ala48=)
5g.139379754G>CCA446793983SLC23A1c.849C>G (p.Ala283=)
c.861C>G (p.Ala287=)
c.164+202C>G
n.460C>G
c.969C>G (p.Ala323=)
c.957C>G (p.Ala319=)
c.750C>G (p.Ala250=)
c.654C>G (p.Ala218=)
c.534C>G (p.Ala178=)
c.144C>G (p.Ala48=)
5g.139379754G>TCA446793985SLC23A1c.849C>A (p.Ala283=)
c.861C>A (p.Ala287=)
c.164+202C>A
n.460C>A
c.969C>A (p.Ala323=)
c.957C>A (p.Ala319=)
c.750C>A (p.Ala250=)
c.654C>A (p.Ala218=)
c.534C>A (p.Ala178=)
c.144C>A (p.Ala48=)
5g.139379755G>ACA361139697SLC23A1c.848C>T (p.Ala283Val)
c.860C>T (p.Ala287Val)
c.164+201C>T
n.459C>T
c.968C>T (p.Ala323Val)
c.956C>T (p.Ala319Val)
c.749C>T (p.Ala250Val)
c.653C>T (p.Ala218Val)
c.533C>T (p.Ala178Val)
c.143C>T (p.Ala48Val)
5g.139379755G>CCA361139699SLC23A1c.848C>G (p.Ala283Gly)
c.860C>G (p.Ala287Gly)
c.164+201C>G
n.459C>G
c.968C>G (p.Ala323Gly)
c.956C>G (p.Ala319Gly)
c.749C>G (p.Ala250Gly)
c.653C>G (p.Ala218Gly)
c.533C>G (p.Ala178Gly)
c.143C>G (p.Ala48Gly)
5g.139379755G>TCA361139698SLC23A1c.848C>A (p.Ala283Asp)
c.860C>A (p.Ala287Asp)
c.164+201C>A
n.459C>A
c.968C>A (p.Ala323Asp)
c.956C>A (p.Ala319Asp)
c.749C>A (p.Ala250Asp)
c.653C>A (p.Ala218Asp)
c.533C>A (p.Ala178Asp)
c.143C>A (p.Ala48Asp)
 gnomAD v4
5g.139379756C>ACA361139700SLC23A1c.847G>T (p.Ala283Ser)
c.859G>T (p.Ala287Ser)
c.164+200G>T
n.458G>T
c.967G>T (p.Ala323Ser)
c.955G>T (p.Ala319Ser)
c.748G>T (p.Ala250Ser)
c.652G>T (p.Ala218Ser)
c.532G>T (p.Ala178Ser)
c.142G>T (p.Ala48Ser)
5g.139379756C>GCA361139701SLC23A1c.847G>C (p.Ala283Pro)
c.859G>C (p.Ala287Pro)
c.164+200G>C
n.458G>C
c.967G>C (p.Ala323Pro)
c.955G>C (p.Ala319Pro)
c.748G>C (p.Ala250Pro)
c.652G>C (p.Ala218Pro)
c.532G>C (p.Ala178Pro)
c.142G>C (p.Ala48Pro)
5g.139379756C>TCA361139702SLC23A1c.847G>A (p.Ala283Thr)
c.859G>A (p.Ala287Thr)
c.164+200G>A
n.458G>A
c.967G>A (p.Ala323Thr)
c.955G>A (p.Ala319Thr)
c.748G>A (p.Ala250Thr)
c.652G>A (p.Ala218Thr)
c.532G>A (p.Ala178Thr)
c.142G>A (p.Ala48Thr)
5g.139379757T>ACA361139703SLC23A1c.846A>T (p.Lys282Asn)
c.858A>T (p.Lys286Asn)
c.164+199A>T
n.457A>T
c.966A>T (p.Lys322Asn)
c.954A>T (p.Lys318Asn)
c.747A>T (p.Lys249Asn)
c.651A>T (p.Lys217Asn)
c.531A>T (p.Lys177Asn)
c.141A>T (p.Lys47Asn)
5g.139379757T>CCA446793988SLC23A1c.846A>G (p.Lys282=)
c.858A>G (p.Lys286=)
c.164+199A>G
n.457A>G
c.966A>G (p.Lys322=)
c.954A>G (p.Lys318=)
c.747A>G (p.Lys249=)
c.651A>G (p.Lys217=)
c.531A>G (p.Lys177=)
c.141A>G (p.Lys47=)
5g.139379757T>GCA361139704SLC23A1c.846A>C (p.Lys282Asn)
c.858A>C (p.Lys286Asn)
c.164+199A>C
n.457A>C
c.966A>C (p.Lys322Asn)
c.954A>C (p.Lys318Asn)
c.747A>C (p.Lys249Asn)
c.651A>C (p.Lys217Asn)
c.531A>C (p.Lys177Asn)
c.141A>C (p.Lys47Asn)
5g.139379758T>ACA361139705SLC23A1c.845A>T (p.Lys282Ile)
c.857A>T (p.Lys286Ile)
c.164+198A>T
n.456A>T
c.965A>T (p.Lys322Ile)
c.953A>T (p.Lys318Ile)
c.746A>T (p.Lys249Ile)
c.650A>T (p.Lys217Ile)
c.530A>T (p.Lys177Ile)
c.140A>T (p.Lys47Ile)
5g.139379758T>CCA361139706SLC23A1c.845A>G (p.Lys282Arg)
c.857A>G (p.Lys286Arg)
c.164+198A>G
n.456A>G
c.965A>G (p.Lys322Arg)
c.953A>G (p.Lys318Arg)
c.746A>G (p.Lys249Arg)
c.650A>G (p.Lys217Arg)
c.530A>G (p.Lys177Arg)
c.140A>G (p.Lys47Arg)
5g.139379758T>GCA361139707SLC23A1c.845A>C (p.Lys282Thr)
c.857A>C (p.Lys286Thr)
c.164+198A>C
n.456A>C
c.965A>C (p.Lys322Thr)
c.953A>C (p.Lys318Thr)
c.746A>C (p.Lys249Thr)
c.650A>C (p.Lys217Thr)
c.530A>C (p.Lys177Thr)
c.140A>C (p.Lys47Thr)
5g.139379759T>ACA361139708SLC23A1c.844A>T (p.Lys282Ter)
c.856A>T (p.Lys286Ter)
c.164+197A>T
n.455A>T
c.964A>T (p.Lys322Ter)
c.952A>T (p.Lys318Ter)
c.745A>T (p.Lys249Ter)
c.649A>T (p.Lys217Ter)
c.529A>T (p.Lys177Ter)
c.139A>T (p.Lys47Ter)
5g.139379759T>CCA361139709SLC23A1c.844A>G (p.Lys282Glu)
c.856A>G (p.Lys286Glu)
c.164+197A>G
n.455A>G
c.964A>G (p.Lys322Glu)
c.952A>G (p.Lys318Glu)
c.745A>G (p.Lys249Glu)
c.649A>G (p.Lys217Glu)
c.529A>G (p.Lys177Glu)
c.139A>G (p.Lys47Glu)
5g.139379759T>GCA361139710SLC23A1c.844A>C (p.Lys282Gln)
c.856A>C (p.Lys286Gln)
c.164+197A>C
n.455A>C
c.964A>C (p.Lys322Gln)
c.952A>C (p.Lys318Gln)
c.745A>C (p.Lys249Gln)
c.649A>C (p.Lys217Gln)
c.529A>C (p.Lys177Gln)
c.139A>C (p.Lys47Gln)
5g.139379760T>ACA446793991SLC23A1c.843A>T (p.Pro281=)
c.855A>T (p.Pro285=)
c.164+196A>T
n.454A>T
c.963A>T (p.Pro321=)
c.951A>T (p.Pro317=)
c.744A>T (p.Pro248=)
c.648A>T (p.Pro216=)
c.528A>T (p.Pro176=)
c.138A>T (p.Pro46=)
5g.139379760T>CCA446793993SLC23A1c.843A>G (p.Pro281=)
c.855A>G (p.Pro285=)
c.164+196A>G
n.454A>G
c.963A>G (p.Pro321=)
c.951A>G (p.Pro317=)
c.744A>G (p.Pro248=)
c.648A>G (p.Pro216=)
c.528A>G (p.Pro176=)
c.138A>G (p.Pro46=)
5g.139379760T>GCA446793995SLC23A1c.843A>C (p.Pro281=)
c.855A>C (p.Pro285=)
c.164+196A>C
n.454A>C
c.963A>C (p.Pro321=)
c.951A>C (p.Pro317=)
c.744A>C (p.Pro248=)
c.648A>C (p.Pro216=)
c.528A>C (p.Pro176=)
c.138A>C (p.Pro46=)
5g.139379761G>ACA361139718SLC23A1c.842C>T (p.Pro281Leu)
c.854C>T (p.Pro285Leu)
c.164+195C>T
n.453C>T
c.962C>T (p.Pro321Leu)
c.950C>T (p.Pro317Leu)
c.743C>T (p.Pro248Leu)
c.647C>T (p.Pro216Leu)
c.527C>T (p.Pro176Leu)
c.137C>T (p.Pro46Leu)
5g.139379761G>CCA361139716SLC23A1c.842C>G (p.Pro281Arg)
c.854C>G (p.Pro285Arg)
c.164+195C>G
n.453C>G
c.962C>G (p.Pro321Arg)
c.950C>G (p.Pro317Arg)
c.743C>G (p.Pro248Arg)
c.647C>G (p.Pro216Arg)
c.527C>G (p.Pro176Arg)
c.137C>G (p.Pro46Arg)
5g.139379761G>TCA361139713SLC23A1c.842C>A (p.Pro281Gln)
c.854C>A (p.Pro285Gln)
c.164+195C>A
n.453C>A
c.962C>A (p.Pro321Gln)
c.950C>A (p.Pro317Gln)
c.743C>A (p.Pro248Gln)
c.647C>A (p.Pro216Gln)
c.527C>A (p.Pro176Gln)
c.137C>A (p.Pro46Gln)
5g.139379762G>ACA361139722SLC23A1c.841C>T (p.Pro281Ser)
c.853C>T (p.Pro285Ser)
c.164+194C>T
n.452C>T
c.961C>T (p.Pro321Ser)
c.949C>T (p.Pro317Ser)
c.742C>T (p.Pro248Ser)
c.646C>T (p.Pro216Ser)
c.526C>T (p.Pro176Ser)
c.136C>T (p.Pro46Ser)
 dbSNP gnomAD v4
5g.139379762G>CCA361139724SLC23A1c.841C>G (p.Pro281Ala)
c.853C>G (p.Pro285Ala)
c.164+194C>G
n.452C>G
c.961C>G (p.Pro321Ala)
c.949C>G (p.Pro317Ala)
c.742C>G (p.Pro248Ala)
c.646C>G (p.Pro216Ala)
c.526C>G (p.Pro176Ala)
c.136C>G (p.Pro46Ala)
5g.139379762G=CA1586303722SLC23A1c.841C= (p.Pro281=)
c.853C= (p.Pro285=)
c.164+194C=
n.452C=
c.961C= (p.Pro321=)
c.949C= (p.Pro317=)
c.742C= (p.Pro248=)
c.646C= (p.Pro216=)
c.526C= (p.Pro176=)
c.136C= (p.Pro46=)
5g.139379762G>TCA361139726SLC23A1c.841C>A (p.Pro281Thr)
c.853C>A (p.Pro285Thr)
c.164+194C>A
n.452C>A
c.961C>A (p.Pro321Thr)
c.949C>A (p.Pro317Thr)
c.742C>A (p.Pro248Thr)
c.646C>A (p.Pro216Thr)
c.526C>A (p.Pro176Thr)
c.136C>A (p.Pro46Thr)
5g.139379763G>ACA3434036SLC23A1c.840C>T (p.Asp280=)
c.852C>T (p.Asp284=)
c.164+193C>T
n.451C>T
c.960C>T (p.Asp320=)
c.948C>T (p.Asp316=)
c.741C>T (p.Asp247=)
c.645C>T (p.Asp215=)
c.525C>T (p.Asp175=)
c.135C>T (p.Asp45=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379763G>CCA361139730SLC23A1c.840C>G (p.Asp280Glu)
c.852C>G (p.Asp284Glu)
c.164+193C>G
n.451C>G
c.960C>G (p.Asp320Glu)
c.948C>G (p.Asp316Glu)
c.741C>G (p.Asp247Glu)
c.645C>G (p.Asp215Glu)
c.525C>G (p.Asp175Glu)
c.135C>G (p.Asp45Glu)
5g.139379763G=CA1586303725SLC23A1c.840C= (p.Asp280=)
c.852C= (p.Asp284=)
c.164+193C=
n.451C=
c.960C= (p.Asp320=)
c.948C= (p.Asp316=)
c.741C= (p.Asp247=)
c.645C= (p.Asp215=)
c.525C= (p.Asp175=)
c.135C= (p.Asp45=)
5g.139379763G>TCA361139732SLC23A1c.840C>A (p.Asp280Glu)
c.852C>A (p.Asp284Glu)
c.164+193C>A
n.451C>A
c.960C>A (p.Asp320Glu)
c.948C>A (p.Asp316Glu)
c.741C>A (p.Asp247Glu)
c.645C>A (p.Asp215Glu)
c.525C>A (p.Asp175Glu)
c.135C>A (p.Asp45Glu)
5g.139379764T>ACA361139740SLC23A1c.839A>T (p.Asp280Val)
c.851A>T (p.Asp284Val)
c.164+192A>T
n.450A>T
c.959A>T (p.Asp320Val)
c.947A>T (p.Asp316Val)
c.740A>T (p.Asp247Val)
c.644A>T (p.Asp215Val)
c.524A>T (p.Asp175Val)
c.134A>T (p.Asp45Val)
5g.139379764T>CCA361139737SLC23A1c.839A>G (p.Asp280Gly)
c.851A>G (p.Asp284Gly)
c.164+192A>G
n.450A>G
c.959A>G (p.Asp320Gly)
c.947A>G (p.Asp316Gly)
c.740A>G (p.Asp247Gly)
c.644A>G (p.Asp215Gly)
c.524A>G (p.Asp175Gly)
c.134A>G (p.Asp45Gly)
5g.139379764T>GCA361139736SLC23A1c.839A>C (p.Asp280Ala)
c.851A>C (p.Asp284Ala)
c.164+192A>C
n.450A>C
c.959A>C (p.Asp320Ala)
c.947A>C (p.Asp316Ala)
c.740A>C (p.Asp247Ala)
c.644A>C (p.Asp215Ala)
c.524A>C (p.Asp175Ala)
c.134A>C (p.Asp45Ala)
5g.139379765C>ACA361139743SLC23A1c.838G>T (p.Asp280Tyr)
c.850G>T (p.Asp284Tyr)
c.164+191G>T
n.449G>T
c.958G>T (p.Asp320Tyr)
c.946G>T (p.Asp316Tyr)
c.739G>T (p.Asp247Tyr)
c.643G>T (p.Asp215Tyr)
c.523G>T (p.Asp175Tyr)
c.133G>T (p.Asp45Tyr)
5g.139379765C>GCA361139745SLC23A1c.838G>C (p.Asp280His)
c.850G>C (p.Asp284His)
c.164+191G>C
n.449G>C
c.958G>C (p.Asp320His)
c.946G>C (p.Asp316His)
c.739G>C (p.Asp247His)
c.643G>C (p.Asp215His)
c.523G>C (p.Asp175His)
c.133G>C (p.Asp45His)
5g.139379765C>TCA361139747SLC23A1c.838G>A (p.Asp280Asn)
c.850G>A (p.Asp284Asn)
c.164+191G>A
n.449G>A
c.958G>A (p.Asp320Asn)
c.946G>A (p.Asp316Asn)
c.739G>A (p.Asp247Asn)
c.643G>A (p.Asp215Asn)
c.523G>A (p.Asp175Asn)
c.133G>A (p.Asp45Asn)
 COSMIC
5g.139379766T>ACA446793999SLC23A1c.837A>T (p.Thr279=)
c.849A>T (p.Thr283=)
c.164+190A>T
n.448A>T
c.957A>T (p.Thr319=)
c.945A>T (p.Thr315=)
c.738A>T (p.Thr246=)
c.642A>T (p.Thr214=)
c.522A>T (p.Thr174=)
c.132A>T (p.Thr44=)
5g.139379766T>CCA446794001SLC23A1c.837A>G (p.Thr279=)
c.849A>G (p.Thr283=)
c.164+190A>G
n.448A>G
c.957A>G (p.Thr319=)
c.945A>G (p.Thr315=)
c.738A>G (p.Thr246=)
c.642A>G (p.Thr214=)
c.522A>G (p.Thr174=)
c.132A>G (p.Thr44=)
5g.139379766T>GCA446793998SLC23A1c.837A>C (p.Thr279=)
c.849A>C (p.Thr283=)
c.164+190A>C
n.448A>C
c.957A>C (p.Thr319=)
c.945A>C (p.Thr315=)
c.738A>C (p.Thr246=)
c.642A>C (p.Thr214=)
c.522A>C (p.Thr174=)
c.132A>C (p.Thr44=)
5g.139379767G>ACA361139749SLC23A1c.836C>T (p.Thr279Ile)
c.848C>T (p.Thr283Ile)
c.164+189C>T
n.447C>T
c.956C>T (p.Thr319Ile)
c.944C>T (p.Thr315Ile)
c.737C>T (p.Thr246Ile)
c.641C>T (p.Thr214Ile)
c.521C>T (p.Thr174Ile)
c.131C>T (p.Thr44Ile)
 gnomAD v4
5g.139379767G>CCA361139756SLC23A1c.836C>G (p.Thr279Arg)
c.848C>G (p.Thr283Arg)
c.164+189C>G
n.447C>G
c.956C>G (p.Thr319Arg)
c.944C>G (p.Thr315Arg)
c.737C>G (p.Thr246Arg)
c.641C>G (p.Thr214Arg)
c.521C>G (p.Thr174Arg)
c.131C>G (p.Thr44Arg)
5g.139379767G>TCA361139758SLC23A1c.836C>A (p.Thr279Lys)
c.848C>A (p.Thr283Lys)
c.164+189C>A
n.447C>A
c.956C>A (p.Thr319Lys)
c.944C>A (p.Thr315Lys)
c.737C>A (p.Thr246Lys)
c.641C>A (p.Thr214Lys)
c.521C>A (p.Thr174Lys)
c.131C>A (p.Thr44Lys)
5g.139379768T>ACA361139762SLC23A1c.835A>T (p.Thr279Ser)
c.847A>T (p.Thr283Ser)
c.164+188A>T
n.446A>T
c.955A>T (p.Thr319Ser)
c.943A>T (p.Thr315Ser)
c.736A>T (p.Thr246Ser)
c.640A>T (p.Thr214Ser)
c.520A>T (p.Thr174Ser)
c.130A>T (p.Thr44Ser)
5g.139379768T>CCA361139766SLC23A1c.835A>G (p.Thr279Ala)
c.847A>G (p.Thr283Ala)
c.164+188A>G
n.446A>G
c.955A>G (p.Thr319Ala)
c.943A>G (p.Thr315Ala)
c.736A>G (p.Thr246Ala)
c.640A>G (p.Thr214Ala)
c.520A>G (p.Thr174Ala)
c.130A>G (p.Thr44Ala)
5g.139379768T>GCA361139764SLC23A1c.835A>C (p.Thr279Pro)
c.847A>C (p.Thr283Pro)
c.164+188A>C
n.446A>C
c.955A>C (p.Thr319Pro)
c.943A>C (p.Thr315Pro)
c.736A>C (p.Thr246Pro)
c.640A>C (p.Thr214Pro)
c.520A>C (p.Thr174Pro)
c.130A>C (p.Thr44Pro)
5g.139379769G>ACA446794005SLC23A1c.834C>T (p.Pro278=)
c.846C>T (p.Pro282=)
c.164+187C>T
n.445C>T
c.954C>T (p.Pro318=)
c.942C>T (p.Pro314=)
c.735C>T (p.Pro245=)
c.639C>T (p.Pro213=)
c.519C>T (p.Pro173=)
c.129C>T (p.Pro43=)
5g.139379769G>CCA446794006SLC23A1c.834C>G (p.Pro278=)
c.846C>G (p.Pro282=)
c.164+187C>G
n.445C>G
c.954C>G (p.Pro318=)
c.942C>G (p.Pro314=)
c.735C>G (p.Pro245=)
c.639C>G (p.Pro213=)
c.519C>G (p.Pro173=)
c.129C>G (p.Pro43=)
5g.139379769G>TCA446794007SLC23A1c.834C>A (p.Pro278=)
c.846C>A (p.Pro282=)
c.164+187C>A
n.445C>A
c.954C>A (p.Pro318=)
c.942C>A (p.Pro314=)
c.735C>A (p.Pro245=)
c.639C>A (p.Pro213=)
c.519C>A (p.Pro173=)
c.129C>A (p.Pro43=)
5g.139379770G>ACA361139769SLC23A1c.833C>T (p.Pro278Leu)
c.845C>T (p.Pro282Leu)
c.164+186C>T
n.444C>T
c.953C>T (p.Pro318Leu)
c.941C>T (p.Pro314Leu)
c.734C>T (p.Pro245Leu)
c.638C>T (p.Pro213Leu)
c.518C>T (p.Pro173Leu)
c.128C>T (p.Pro43Leu)
 COSMIC
5g.139379770G>CCA361139771SLC23A1c.833C>G (p.Pro278Arg)
c.845C>G (p.Pro282Arg)
c.164+186C>G
n.444C>G
c.953C>G (p.Pro318Arg)
c.941C>G (p.Pro314Arg)
c.734C>G (p.Pro245Arg)
c.638C>G (p.Pro213Arg)
c.518C>G (p.Pro173Arg)
c.128C>G (p.Pro43Arg)
5g.139379770G>TCA361139773SLC23A1c.833C>A (p.Pro278His)
c.845C>A (p.Pro282His)
c.164+186C>A
n.444C>A
c.953C>A (p.Pro318His)
c.941C>A (p.Pro314His)
c.734C>A (p.Pro245His)
c.638C>A (p.Pro213His)
c.518C>A (p.Pro173His)
c.128C>A (p.Pro43His)
 COSMIC
5g.139379771G>ACA361139777SLC23A1c.832C>T (p.Pro278Ser)
c.844C>T (p.Pro282Ser)
c.164+185C>T
n.443C>T
c.952C>T (p.Pro318Ser)
c.940C>T (p.Pro314Ser)
c.733C>T (p.Pro245Ser)
c.637C>T (p.Pro213Ser)
c.517C>T (p.Pro173Ser)
c.127C>T (p.Pro43Ser)
5g.139379771G>CCA361139779SLC23A1c.832C>G (p.Pro278Ala)
c.844C>G (p.Pro282Ala)
c.164+185C>G
n.443C>G
c.952C>G (p.Pro318Ala)
c.940C>G (p.Pro314Ala)
c.733C>G (p.Pro245Ala)
c.637C>G (p.Pro213Ala)
c.517C>G (p.Pro173Ala)
c.127C>G (p.Pro43Ala)
5g.139379771G>TCA361139781SLC23A1c.832C>A (p.Pro278Thr)
c.844C>A (p.Pro282Thr)
c.164+185C>A
n.443C>A
c.952C>A (p.Pro318Thr)
c.940C>A (p.Pro314Thr)
c.733C>A (p.Pro245Thr)
c.637C>A (p.Pro213Thr)
c.517C>A (p.Pro173Thr)
c.127C>A (p.Pro43Thr)
5g.139379772C>ACA446794012SLC23A1c.831G>T (p.Leu277=)
c.843G>T (p.Leu281=)
c.164+184G>T
n.442G>T
c.951G>T (p.Leu317=)
c.939G>T (p.Leu313=)
c.732G>T (p.Leu244=)
c.636G>T (p.Leu212=)
c.516G>T (p.Leu172=)
c.126G>T (p.Leu42=)
5g.139379772C=CA1586303729SLC23A1c.831G= (p.Leu277=)
c.843G= (p.Leu281=)
c.164+184G=
n.442G=
c.951G= (p.Leu317=)
c.939G= (p.Leu313=)
c.732G= (p.Leu244=)
c.636G= (p.Leu212=)
c.516G= (p.Leu172=)
c.126G= (p.Leu42=)
5g.139379772C>GCA446794013SLC23A1c.831G>C (p.Leu277=)
c.843G>C (p.Leu281=)
c.164+184G>C
n.442G>C
c.951G>C (p.Leu317=)
c.939G>C (p.Leu313=)
c.732G>C (p.Leu244=)
c.636G>C (p.Leu212=)
c.516G>C (p.Leu172=)
c.126G>C (p.Leu42=)
5g.139379772C>TCA128242452SLC23A1c.831G>A (p.Leu277=)
c.843G>A (p.Leu281=)
c.164+184G>A
n.442G>A
c.951G>A (p.Leu317=)
c.939G>A (p.Leu313=)
c.732G>A (p.Leu244=)
c.636G>A (p.Leu212=)
c.516G>A (p.Leu172=)
c.126G>A (p.Leu42=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139379773A>CCA361139787SLC23A1c.830T>G (p.Leu277Arg)
c.842T>G (p.Leu281Arg)
c.164+183T>G
n.441T>G
c.950T>G (p.Leu317Arg)
c.938T>G (p.Leu313Arg)
c.731T>G (p.Leu244Arg)
c.635T>G (p.Leu212Arg)
c.515T>G (p.Leu172Arg)
c.125T>G (p.Leu42Arg)
5g.139379773A>GCA361139789SLC23A1c.830T>C (p.Leu277Pro)
c.842T>C (p.Leu281Pro)
c.164+183T>C
n.441T>C
c.950T>C (p.Leu317Pro)
c.938T>C (p.Leu313Pro)
c.731T>C (p.Leu244Pro)
c.635T>C (p.Leu212Pro)
c.515T>C (p.Leu172Pro)
c.125T>C (p.Leu42Pro)
5g.139379773A>TCA361139791SLC23A1c.830T>A (p.Leu277Gln)
c.842T>A (p.Leu281Gln)
c.164+183T>A
n.441T>A
c.950T>A (p.Leu317Gln)
c.938T>A (p.Leu313Gln)
c.731T>A (p.Leu244Gln)
c.635T>A (p.Leu212Gln)
c.515T>A (p.Leu172Gln)
c.125T>A (p.Leu42Gln)
5g.139379774G>ACA446794014SLC23A1c.829C>T (p.Leu277=)
c.841C>T (p.Leu281=)
c.164+182C>T
n.440C>T
c.949C>T (p.Leu317=)
c.937C>T (p.Leu313=)
c.730C>T (p.Leu244=)
c.634C>T (p.Leu212=)
c.514C>T (p.Leu172=)
c.124C>T (p.Leu42=)
5g.139379774G>CCA361139793SLC23A1c.829C>G (p.Leu277Val)
c.841C>G (p.Leu281Val)
c.164+182C>G
n.440C>G
c.949C>G (p.Leu317Val)
c.937C>G (p.Leu313Val)
c.730C>G (p.Leu244Val)
c.634C>G (p.Leu212Val)
c.514C>G (p.Leu172Val)
c.124C>G (p.Leu42Val)
5g.139379774G>TCA361139795SLC23A1c.829C>A (p.Leu277Met)
c.841C>A (p.Leu281Met)
c.164+182C>A
n.440C>A
c.949C>A (p.Leu317Met)
c.937C>A (p.Leu313Met)
c.730C>A (p.Leu244Met)
c.634C>A (p.Leu212Met)
c.514C>A (p.Leu172Met)
c.124C>A (p.Leu42Met)
5g.139379775C>ACA446794017SLC23A1c.828G>T (p.Val276=)
c.840G>T (p.Val280=)
c.164+181G>T
n.439G>T
c.948G>T (p.Val316=)
c.936G>T (p.Val312=)
c.729G>T (p.Val243=)
c.633G>T (p.Val211=)
c.513G>T (p.Val171=)
c.123G>T (p.Val41=)
5g.139379775C>GCA446794018SLC23A1c.828G>C (p.Val276=)
c.840G>C (p.Val280=)
c.164+181G>C
n.439G>C
c.948G>C (p.Val316=)
c.936G>C (p.Val312=)
c.729G>C (p.Val243=)
c.633G>C (p.Val211=)
c.513G>C (p.Val171=)
c.123G>C (p.Val41=)
5g.139379775C>TCA446794019SLC23A1c.828G>A (p.Val276=)
c.840G>A (p.Val280=)
c.164+181G>A
n.439G>A
c.948G>A (p.Val316=)
c.936G>A (p.Val312=)
c.729G>A (p.Val243=)
c.633G>A (p.Val211=)
c.513G>A (p.Val171=)
c.123G>A (p.Val41=)
5g.139379776A>CCA361139799SLC23A1c.827T>G (p.Val276Gly)
c.839T>G (p.Val280Gly)
c.164+180T>G
n.438T>G
c.947T>G (p.Val316Gly)
c.935T>G (p.Val312Gly)
c.728T>G (p.Val243Gly)
c.632T>G (p.Val211Gly)
c.512T>G (p.Val171Gly)
c.122T>G (p.Val41Gly)
5g.139379776A>GCA361139801SLC23A1c.827T>C (p.Val276Ala)
c.839T>C (p.Val280Ala)
c.164+180T>C
n.438T>C
c.947T>C (p.Val316Ala)
c.935T>C (p.Val312Ala)
c.728T>C (p.Val243Ala)
c.632T>C (p.Val211Ala)
c.512T>C (p.Val171Ala)
c.122T>C (p.Val41Ala)
5g.139379776A>TCA361139798SLC23A1c.827T>A (p.Val276Glu)
c.839T>A (p.Val280Glu)
c.164+180T>A
n.438T>A
c.947T>A (p.Val316Glu)
c.935T>A (p.Val312Glu)
c.728T>A (p.Val243Glu)
c.632T>A (p.Val211Glu)
c.512T>A (p.Val171Glu)
c.122T>A (p.Val41Glu)
5g.139379777C>ACA361139806SLC23A1c.826G>T (p.Val276Leu)
c.838G>T (p.Val280Leu)
c.164+179G>T
n.437G>T
c.946G>T (p.Val316Leu)
c.934G>T (p.Val312Leu)
c.727G>T (p.Val243Leu)
c.631G>T (p.Val211Leu)
c.511G>T (p.Val171Leu)
c.121G>T (p.Val41Leu)
5g.139379777C=CA1586303731SLC23A1c.826G= (p.Val276=)
c.838G= (p.Val280=)
c.164+179G=
n.437G=
c.946G= (p.Val316=)
c.934G= (p.Val312=)
c.727G= (p.Val243=)
c.631G= (p.Val211=)
c.511G= (p.Val171=)
c.121G= (p.Val41=)
5g.139379777C>GCA361139803SLC23A1c.826G>C (p.Val276Leu)
c.838G>C (p.Val280Leu)
c.164+179G>C
n.437G>C
c.946G>C (p.Val316Leu)
c.934G>C (p.Val312Leu)
c.727G>C (p.Val243Leu)
c.631G>C (p.Val211Leu)
c.511G>C (p.Val171Leu)
c.121G>C (p.Val41Leu)
5g.139379777C>TCA3434037SLC23A1c.826G>A (p.Val276Met)
c.838G>A (p.Val280Met)
c.164+179G>A
n.437G>A
c.946G>A (p.Val316Met)
c.934G>A (p.Val312Met)
c.727G>A (p.Val243Met)
c.631G>A (p.Val211Met)
c.511G>A (p.Val171Met)
c.121G>A (p.Val41Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.139379777_139379778insCCCTTGCA2554083802SLC23A1c.825_826insCAAGGG (p.Asp275_Val276insGlnGly)
c.837_838insCAAGGG (p.Asp279_Val280insGlnGly)
c.164+178_164+179insCAAGGG
n.436_437insCAAGGG
c.945_946insCAAGGG (p.Asp315_Val316insGlnGly)
c.933_934insCAAGGG (p.Asp311_Val312insGlnGly)
c.726_727insCAAGGG (p.Asp242_Val243insGlnGly)
c.630_631insCAAGGG (p.Asp210_Val211insGlnGly)
c.510_511insCAAGGG (p.Asp170_Val171insGlnGly)
c.120_121insCAAGGG (p.Asp40_Val41insGlnGly)
5g.139379778G>ACA3434038SLC23A1c.825C>T (p.Asp275=)
c.837C>T (p.Asp279=)
c.164+178C>T
n.436C>T
c.945C>T (p.Asp315=)
c.933C>T (p.Asp311=)
c.726C>T (p.Asp242=)
c.630C>T (p.Asp210=)
c.510C>T (p.Asp170=)
c.120C>T (p.Asp40=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.139379778G>CCA361139813SLC23A1c.825C>G (p.Asp275Glu)
c.837C>G (p.Asp279Glu)
c.164+178C>G
n.436C>G
c.945C>G (p.Asp315Glu)
c.933C>G (p.Asp311Glu)
c.726C>G (p.Asp242Glu)
c.630C>G (p.Asp210Glu)
c.510C>G (p.Asp170Glu)
c.120C>G (p.Asp40Glu)
5g.139379778G=CA1586303735SLC23A1c.825C= (p.Asp275=)
c.837C= (p.Asp279=)
c.164+178C=
n.436C=
c.945C= (p.Asp315=)
c.933C= (p.Asp311=)
c.726C= (p.Asp242=)
c.630C= (p.Asp210=)
c.510C= (p.Asp170=)
c.120C= (p.Asp40=)
5g.139379778G>TCA361139811SLC23A1c.825C>A (p.Asp275Glu)
c.837C>A (p.Asp279Glu)
c.164+178C>A
n.436C>A
c.945C>A (p.Asp315Glu)
c.933C>A (p.Asp311Glu)
c.726C>A (p.Asp242Glu)
c.630C>A (p.Asp210Glu)
c.510C>A (p.Asp170Glu)
c.120C>A (p.Asp40Glu)
5g.139379779T>ACA361139815SLC23A1c.824A>T (p.Asp275Val)
c.836A>T (p.Asp279Val)
c.164+177A>T
n.435A>T
c.944A>T (p.Asp315Val)
c.932A>T (p.Asp311Val)
c.725A>T (p.Asp242Val)
c.629A>T (p.Asp210Val)
c.509A>T (p.Asp170Val)
c.119A>T (p.Asp40Val)
 gnomAD v4
5g.139379779T>CCA361139816SLC23A1c.824A>G (p.Asp275Gly)
c.836A>G (p.Asp279Gly)
c.164+177A>G
n.435A>G
c.944A>G (p.Asp315Gly)
c.932A>G (p.Asp311Gly)
c.725A>G (p.Asp242Gly)
c.629A>G (p.Asp210Gly)
c.509A>G (p.Asp170Gly)
c.119A>G (p.Asp40Gly)
 gnomAD v4
5g.139379779T>GCA361139817SLC23A1c.824A>C (p.Asp275Ala)
c.836A>C (p.Asp279Ala)
c.164+177A>C
n.435A>C
c.944A>C (p.Asp315Ala)
c.932A>C (p.Asp311Ala)
c.725A>C (p.Asp242Ala)
c.629A>C (p.Asp210Ala)
c.509A>C (p.Asp170Ala)
c.119A>C (p.Asp40Ala)
5g.139379780C>ACA361139818SLC23A1c.823G>T (p.Asp275Tyr)
c.835G>T (p.Asp279Tyr)
c.164+176G>T
n.434G>T
c.943G>T (p.Asp315Tyr)
c.931G>T (p.Asp311Tyr)
c.724G>T (p.Asp242Tyr)
c.628G>T (p.Asp210Tyr)
c.508G>T (p.Asp170Tyr)
c.118G>T (p.Asp40Tyr)
5g.139379780C>GCA361139819SLC23A1c.823G>C (p.Asp275His)
c.835G>C (p.Asp279His)
c.164+176G>C
n.434G>C
c.943G>C (p.Asp315His)
c.931G>C (p.Asp311His)
c.724G>C (p.Asp242His)
c.628G>C (p.Asp210His)
c.508G>C (p.Asp170His)
c.118G>C (p.Asp40His)
5g.139379780C>TCA361139820SLC23A1c.823G>A (p.Asp275Asn)
c.835G>A (p.Asp279Asn)
c.164+176G>A
n.434G>A
c.943G>A (p.Asp315Asn)
c.931G>A (p.Asp311Asn)
c.724G>A (p.Asp242Asn)
c.628G>A (p.Asp210Asn)
c.508G>A (p.Asp170Asn)
c.118G>A (p.Asp40Asn)
5g.139379781T>ACA446794024SLC23A1c.822A>T (p.Thr274=)
c.834A>T (p.Thr278=)
c.164+175A>T
n.433A>T
c.942A>T (p.Thr314=)
c.930A>T (p.Thr310=)
c.723A>T (p.Thr241=)
c.627A>T (p.Thr209=)
c.507A>T (p.Thr169=)
c.117A>T (p.Thr39=)
5g.139379781T>CCA446794025SLC23A1c.822A>G (p.Thr274=)
c.834A>G (p.Thr278=)
c.164+175A>G
n.433A>G
c.942A>G (p.Thr314=)
c.930A>G (p.Thr310=)
c.723A>G (p.Thr241=)
c.627A>G (p.Thr209=)
c.507A>G (p.Thr169=)
c.117A>G (p.Thr39=)
5g.139379781T>GCA446794026SLC23A1c.822A>C (p.Thr274=)
c.834A>C (p.Thr278=)
c.164+175A>C
n.433A>C
c.942A>C (p.Thr314=)
c.930A>C (p.Thr310=)
c.723A>C (p.Thr241=)
c.627A>C (p.Thr209=)
c.507A>C (p.Thr169=)
c.117A>C (p.Thr39=)
5g.139379782G>ACA361139821SLC23A1c.821C>T (p.Thr274Ile)
c.833C>T (p.Thr278Ile)
c.164+174C>T
n.432C>T
c.941C>T (p.Thr314Ile)
c.929C>T (p.Thr310Ile)
c.722C>T (p.Thr241Ile)
c.626C>T (p.Thr209Ile)
c.506C>T (p.Thr169Ile)
c.116C>T (p.Thr39Ile)
5g.139379782G>CCA361139823SLC23A1c.821C>G (p.Thr274Arg)
c.833C>G (p.Thr278Arg)
c.164+174C>G
n.432C>G
c.941C>G (p.Thr314Arg)
c.929C>G (p.Thr310Arg)
c.722C>G (p.Thr241Arg)
c.626C>G (p.Thr209Arg)
c.506C>G (p.Thr169Arg)
c.116C>G (p.Thr39Arg)
5g.139379782G>TCA361139825SLC23A1c.821C>A (p.Thr274Lys)
c.833C>A (p.Thr278Lys)
c.164+174C>A
n.432C>A
c.941C>A (p.Thr314Lys)
c.929C>A (p.Thr310Lys)
c.722C>A (p.Thr241Lys)
c.626C>A (p.Thr209Lys)
c.506C>A (p.Thr169Lys)
c.116C>A (p.Thr39Lys)
5g.139379783T>ACA361139828SLC23A1c.820A>T (p.Thr274Ser)
c.832A>T (p.Thr278Ser)
c.164+173A>T
n.431A>T
c.940A>T (p.Thr314Ser)
c.928A>T (p.Thr310Ser)
c.721A>T (p.Thr241Ser)
c.625A>T (p.Thr209Ser)
c.505A>T (p.Thr169Ser)
c.115A>T (p.Thr39Ser)
5g.139379783T>CCA361139830SLC23A1c.820A>G (p.Thr274Ala)
c.832A>G (p.Thr278Ala)
c.164+173A>G
n.431A>G
c.940A>G (p.Thr314Ala)
c.928A>G (p.Thr310Ala)
c.721A>G (p.Thr241Ala)
c.625A>G (p.Thr209Ala)
c.505A>G (p.Thr169Ala)
c.115A>G (p.Thr39Ala)
5g.139379783T>GCA361139832SLC23A1c.820A>C (p.Thr274Pro)
c.832A>C (p.Thr278Pro)
c.164+173A>C
n.431A>C
c.940A>C (p.Thr314Pro)
c.928A>C (p.Thr310Pro)
c.721A>C (p.Thr241Pro)
c.625A>C (p.Thr209Pro)
c.505A>C (p.Thr169Pro)
c.115A>C (p.Thr39Pro)
5g.139379784C>ACA361139835SLC23A1c.819G>T (p.Leu273Phe)
c.831G>T (p.Leu277Phe)
c.164+172G>T
n.430G>T
c.939G>T (p.Leu313Phe)
c.927G>T (p.Leu309Phe)
c.720G>T (p.Leu240Phe)
c.624G>T (p.Leu208Phe)
c.504G>T (p.Leu168Phe)
c.114G>T (p.Leu38Phe)
5g.139379784C=CA1586303737SLC23A1c.819G= (p.Leu273=)
c.831G= (p.Leu277=)
c.164+172G=
n.430G=
c.939G= (p.Leu313=)
c.927G= (p.Leu309=)
c.720G= (p.Leu240=)
c.624G= (p.Leu208=)
c.504G= (p.Leu168=)
c.114G= (p.Leu38=)
5g.139379784C>GCA361139837SLC23A1c.819G>C (p.Leu273Phe)
c.831G>C (p.Leu277Phe)
c.164+172G>C
n.430G>C
c.939G>C (p.Leu313Phe)
c.927G>C (p.Leu309Phe)
c.720G>C (p.Leu240Phe)
c.624G>C (p.Leu208Phe)
c.504G>C (p.Leu168Phe)
c.114G>C (p.Leu38Phe)
5g.139379784C>TCA446794027SLC23A1c.819G>A (p.Leu273=)
c.831G>A (p.Leu277=)
c.164+172G>A
n.430G>A
c.939G>A (p.Leu313=)
c.927G>A (p.Leu309=)
c.720G>A (p.Leu240=)
c.624G>A (p.Leu208=)
c.504G>A (p.Leu168=)
c.114G>A (p.Leu38=)
 dbSNP gnomAD v4
5g.139379785A>CCA361139840SLC23A1c.818T>G (p.Leu273Trp)
c.830T>G (p.Leu277Trp)
c.164+171T>G
n.429T>G
c.938T>G (p.Leu313Trp)
c.926T>G (p.Leu309Trp)
c.719T>G (p.Leu240Trp)
c.623T>G (p.Leu208Trp)
c.503T>G (p.Leu168Trp)
c.113T>G (p.Leu38Trp)
5g.139379785A>GCA361139842SLC23A1c.818T>C (p.Leu273Ser)
c.830T>C (p.Leu277Ser)
c.164+171T>C
n.429T>C
c.938T>C (p.Leu313Ser)
c.926T>C (p.Leu309Ser)
c.719T>C (p.Leu240Ser)
c.623T>C (p.Leu208Ser)
c.503T>C (p.Leu168Ser)
c.113T>C (p.Leu38Ser)
5g.139379785A>TCA361139845SLC23A1c.818T>A (p.Leu273Ter)
c.830T>A (p.Leu277Ter)
c.164+171T>A
n.429T>A
c.938T>A (p.Leu313Ter)
c.926T>A (p.Leu309Ter)
c.719T>A (p.Leu240Ter)
c.623T>A (p.Leu208Ter)
c.503T>A (p.Leu168Ter)
c.113T>A (p.Leu38Ter)
5g.139379786A>CCA361139846SLC23A1c.817T>G (p.Leu273Val)
c.829T>G (p.Leu277Val)
c.164+170T>G
n.428T>G
c.937T>G (p.Leu313Val)
c.925T>G (p.Leu309Val)
c.718T>G (p.Leu240Val)
c.622T>G (p.Leu208Val)
c.502T>G (p.Leu168Val)
c.112T>G (p.Leu38Val)
5g.139379786A>GCA446794028SLC23A1c.817T>C (p.Leu273=)
c.829T>C (p.Leu277=)
c.164+170T>C
n.428T>C
c.937T>C (p.Leu313=)
c.925T>C (p.Leu309=)
c.718T>C (p.Leu240=)
c.622T>C (p.Leu208=)
c.502T>C (p.Leu168=)
c.112T>C (p.Leu38=)
5g.139379786A>TCA361139847SLC23A1c.817T>A (p.Leu273Met)
c.829T>A (p.Leu277Met)
c.164+170T>A
n.428T>A
c.937T>A (p.Leu313Met)
c.925T>A (p.Leu309Met)
c.718T>A (p.Leu240Met)
c.622T>A (p.Leu208Met)
c.502T>A (p.Leu168Met)
c.112T>A (p.Leu38Met)
5g.139379787G>ACA3434040SLC23A1c.816C>T (p.Thr272=)
c.828C>T (p.Thr276=)
c.164+169C>T
n.427C>T
c.936C>T (p.Thr312=)
c.924C>T (p.Thr308=)
c.717C>T (p.Thr239=)
c.621C>T (p.Thr207=)
c.501C>T (p.Thr167=)
c.111C>T (p.Thr37=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379787G>CCA446794029SLC23A1c.816C>G (p.Thr272=)
c.828C>G (p.Thr276=)
c.164+169C>G
n.427C>G
c.936C>G (p.Thr312=)
c.924C>G (p.Thr308=)
c.717C>G (p.Thr239=)
c.621C>G (p.Thr207=)
c.501C>G (p.Thr167=)
c.111C>G (p.Thr37=)
5g.139379787G=CA1586303741SLC23A1c.816C= (p.Thr272=)
c.828C= (p.Thr276=)
c.164+169C=
n.427C=
c.936C= (p.Thr312=)
c.924C= (p.Thr308=)
c.717C= (p.Thr239=)
c.621C= (p.Thr207=)
c.501C= (p.Thr167=)
c.111C= (p.Thr37=)
5g.139379787G>TCA3434039SLC23A1c.816C>A (p.Thr272=)
c.828C>A (p.Thr276=)
c.164+169C>A
n.427C>A
c.936C>A (p.Thr312=)
c.924C>A (p.Thr308=)
c.717C>A (p.Thr239=)
c.621C>A (p.Thr207=)
c.501C>A (p.Thr167=)
c.111C>A (p.Thr37=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379788G>ACA361139849SLC23A1c.815C>T (p.Thr272Ile)
c.827C>T (p.Thr276Ile)
c.164+168C>T
n.426C>T
c.935C>T (p.Thr312Ile)
c.923C>T (p.Thr308Ile)
c.716C>T (p.Thr239Ile)
c.620C>T (p.Thr207Ile)
c.500C>T (p.Thr167Ile)
c.110C>T (p.Thr37Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.139379788G>CCA361139851SLC23A1c.815C>G (p.Thr272Ser)
c.827C>G (p.Thr276Ser)
c.164+168C>G
n.426C>G
c.935C>G (p.Thr312Ser)
c.923C>G (p.Thr308Ser)
c.716C>G (p.Thr239Ser)
c.620C>G (p.Thr207Ser)
c.500C>G (p.Thr167Ser)
c.110C>G (p.Thr37Ser)
5g.139379788G=CA1586303744SLC23A1c.815C= (p.Thr272=)
c.827C= (p.Thr276=)
c.164+168C=
n.426C=
c.935C= (p.Thr312=)
c.923C= (p.Thr308=)
c.716C= (p.Thr239=)
c.620C= (p.Thr207=)
c.500C= (p.Thr167=)
c.110C= (p.Thr37=)
5g.139379788G>TCA361139853SLC23A1c.815C>A (p.Thr272Asn)
c.827C>A (p.Thr276Asn)
c.164+168C>A
n.426C>A
c.935C>A (p.Thr312Asn)
c.923C>A (p.Thr308Asn)
c.716C>A (p.Thr239Asn)
c.620C>A (p.Thr207Asn)
c.500C>A (p.Thr167Asn)
c.110C>A (p.Thr37Asn)
5g.139379789T>ACA361139856SLC23A1c.814A>T (p.Thr272Ser)
c.826A>T (p.Thr276Ser)
c.164+167A>T
n.425A>T
c.934A>T (p.Thr312Ser)
c.922A>T (p.Thr308Ser)
c.715A>T (p.Thr239Ser)
c.619A>T (p.Thr207Ser)
c.499A>T (p.Thr167Ser)
c.109A>T (p.Thr37Ser)
5g.139379789T>CCA361139858SLC23A1c.814A>G (p.Thr272Ala)
c.826A>G (p.Thr276Ala)
c.164+167A>G
n.425A>G
c.934A>G (p.Thr312Ala)
c.922A>G (p.Thr308Ala)
c.715A>G (p.Thr239Ala)
c.619A>G (p.Thr207Ala)
c.499A>G (p.Thr167Ala)
c.109A>G (p.Thr37Ala)
 dbSNP
5g.139379789T>GCA361139854SLC23A1c.814A>C (p.Thr272Pro)
c.826A>C (p.Thr276Pro)
c.164+167A>C
n.425A>C
c.934A>C (p.Thr312Pro)
c.922A>C (p.Thr308Pro)
c.715A>C (p.Thr239Pro)
c.619A>C (p.Thr207Pro)
c.499A>C (p.Thr167Pro)
c.109A>C (p.Thr37Pro)
5g.139379789T=CA1586303746SLC23A1c.814A= (p.Thr272=)
c.826A= (p.Thr276=)
c.164+167A=
n.425A=
c.934A= (p.Thr312=)
c.922A= (p.Thr308=)
c.715A= (p.Thr239=)
c.619A= (p.Thr207=)
c.499A= (p.Thr167=)
c.109A= (p.Thr37=)
5g.139379790C>ACA446794030SLC23A1c.813G>T (p.Leu271=)
c.825G>T (p.Leu275=)
c.164+166G>T
n.424G>T
c.933G>T (p.Leu311=)
c.921G>T (p.Leu307=)
c.714G>T (p.Leu238=)
c.618G>T (p.Leu206=)
c.498G>T (p.Leu166=)
c.108G>T (p.Leu36=)
5g.139379790C=CA1586303749SLC23A1c.813G= (p.Leu271=)
c.825G= (p.Leu275=)
c.164+166G=
n.424G=
c.933G= (p.Leu311=)
c.921G= (p.Leu307=)
c.714G= (p.Leu238=)
c.618G= (p.Leu206=)
c.498G= (p.Leu166=)
c.108G= (p.Leu36=)
5g.139379790C>GCA446794031SLC23A1c.813G>C (p.Leu271=)
c.825G>C (p.Leu275=)
c.164+166G>C
n.424G>C
c.933G>C (p.Leu311=)
c.921G>C (p.Leu307=)
c.714G>C (p.Leu238=)
c.618G>C (p.Leu206=)
c.498G>C (p.Leu166=)
c.108G>C (p.Leu36=)
5g.139379790C>TCA446794032SLC23A1c.813G>A (p.Leu271=)
c.825G>A (p.Leu275=)
c.164+166G>A
n.424G>A
c.933G>A (p.Leu311=)
c.921G>A (p.Leu307=)
c.714G>A (p.Leu238=)
c.618G>A (p.Leu206=)
c.498G>A (p.Leu166=)
c.108G>A (p.Leu36=)
5g.139379791A>CCA361139861SLC23A1c.812T>G (p.Leu271Arg)
c.824T>G (p.Leu275Arg)
c.164+165T>G
n.423T>G
c.932T>G (p.Leu311Arg)
c.920T>G (p.Leu307Arg)
c.713T>G (p.Leu238Arg)
c.617T>G (p.Leu206Arg)
c.497T>G (p.Leu166Arg)
c.107T>G (p.Leu36Arg)
5g.139379791A>GCA361139865SLC23A1c.812T>C (p.Leu271Pro)
c.824T>C (p.Leu275Pro)
c.164+165T>C
n.423T>C
c.932T>C (p.Leu311Pro)
c.920T>C (p.Leu307Pro)
c.713T>C (p.Leu238Pro)
c.617T>C (p.Leu206Pro)
c.497T>C (p.Leu166Pro)
c.107T>C (p.Leu36Pro)
5g.139379791A>TCA361139867SLC23A1c.812T>A (p.Leu271Gln)
c.824T>A (p.Leu275Gln)
c.164+165T>A
n.423T>A
c.932T>A (p.Leu311Gln)
c.920T>A (p.Leu307Gln)
c.713T>A (p.Leu238Gln)
c.617T>A (p.Leu206Gln)
c.497T>A (p.Leu166Gln)
c.107T>A (p.Leu36Gln)
5g.139379791_139379796dupCA563498510SLC23A1c.807_812dup (p.Leu271_Thr272insValLeu)
c.819_824dup (p.Leu275_Thr276insValLeu)
c.164+160_164+165dup
n.418_423dup
c.927_932dup (p.Leu311_Thr312insValLeu)
c.915_920dup (p.Leu307_Thr308insValLeu)
c.708_713dup (p.Leu238_Thr239insValLeu)
c.612_617dup (p.Leu206_Thr207insValLeu)
c.492_497dup (p.Leu166_Thr167insValLeu)
c.102_107dup (p.Leu36_Thr37insValLeu)
 dbSNP gnomAD v2 gnomAD v4
5g.139379792G>ACA446794033SLC23A1c.811C>T (p.Leu271=)
c.823C>T (p.Leu275=)
c.164+164C>T
n.422C>T
c.931C>T (p.Leu311=)
c.919C>T (p.Leu307=)
c.712C>T (p.Leu238=)
c.616C>T (p.Leu206=)
c.496C>T (p.Leu166=)
c.106C>T (p.Leu36=)
5g.139379792G>CCA361139869SLC23A1c.811C>G (p.Leu271Val)
c.823C>G (p.Leu275Val)
c.164+164C>G
n.422C>G
c.931C>G (p.Leu311Val)
c.919C>G (p.Leu307Val)
c.712C>G (p.Leu238Val)
c.616C>G (p.Leu206Val)
c.496C>G (p.Leu166Val)
c.106C>G (p.Leu36Val)
5g.139379792G>TCA361139871SLC23A1c.811C>A (p.Leu271Met)
c.823C>A (p.Leu275Met)
c.164+164C>A
n.422C>A
c.931C>A (p.Leu311Met)
c.919C>A (p.Leu307Met)
c.712C>A (p.Leu238Met)
c.616C>A (p.Leu206Met)
c.496C>A (p.Leu166Met)
c.106C>A (p.Leu36Met)
5g.139379793G>ACA446794034SLC23A1c.810C>T (p.Val270=)
c.822C>T (p.Val274=)
c.164+163C>T
n.421C>T
c.930C>T (p.Val310=)
c.918C>T (p.Val306=)
c.711C>T (p.Val237=)
c.615C>T (p.Val205=)
c.495C>T (p.Val165=)
c.105C>T (p.Val35=)
5g.139379793G>CCA446794035SLC23A1c.810C>G (p.Val270=)
c.822C>G (p.Val274=)
c.164+163C>G
n.421C>G
c.930C>G (p.Val310=)
c.918C>G (p.Val306=)
c.711C>G (p.Val237=)
c.615C>G (p.Val205=)
c.495C>G (p.Val165=)
c.105C>G (p.Val35=)
5g.139379793G>TCA446794036SLC23A1c.810C>A (p.Val270=)
c.822C>A (p.Val274=)
c.164+163C>A
n.421C>A
c.930C>A (p.Val310=)
c.918C>A (p.Val306=)
c.711C>A (p.Val237=)
c.615C>A (p.Val205=)
c.495C>A (p.Val165=)
c.105C>A (p.Val35=)
5g.139379794A>CCA361139878SLC23A1c.809T>G (p.Val270Gly)
c.821T>G (p.Val274Gly)
c.164+162T>G
n.420T>G
c.929T>G (p.Val310Gly)
c.917T>G (p.Val306Gly)
c.710T>G (p.Val237Gly)
c.614T>G (p.Val205Gly)
c.494T>G (p.Val165Gly)
c.104T>G (p.Val35Gly)
5g.139379794A>GCA361139880SLC23A1c.809T>C (p.Val270Ala)
c.821T>C (p.Val274Ala)
c.164+162T>C
n.420T>C
c.929T>C (p.Val310Ala)
c.917T>C (p.Val306Ala)
c.710T>C (p.Val237Ala)
c.614T>C (p.Val205Ala)
c.494T>C (p.Val165Ala)
c.104T>C (p.Val35Ala)
5g.139379794A>TCA361139882SLC23A1c.809T>A (p.Val270Asp)
c.821T>A (p.Val274Asp)
c.164+162T>A
n.420T>A
c.929T>A (p.Val310Asp)
c.917T>A (p.Val306Asp)
c.710T>A (p.Val237Asp)
c.614T>A (p.Val205Asp)
c.494T>A (p.Val165Asp)
c.104T>A (p.Val35Asp)
5g.139379795C>ACA361139887SLC23A1c.808G>T (p.Val270Phe)
c.820G>T (p.Val274Phe)
c.164+161G>T
n.419G>T
c.928G>T (p.Val310Phe)
c.916G>T (p.Val306Phe)
c.709G>T (p.Val237Phe)
c.613G>T (p.Val205Phe)
c.493G>T (p.Val165Phe)
c.103G>T (p.Val35Phe)
 dbSNP gnomAD v4
5g.139379795C=CA1586303754SLC23A1c.808G= (p.Val270=)
c.820G= (p.Val274=)
c.164+161G=
n.419G=
c.928G= (p.Val310=)
c.916G= (p.Val306=)
c.709G= (p.Val237=)
c.613G= (p.Val205=)
c.493G= (p.Val165=)
c.103G= (p.Val35=)
5g.139379795C>GCA361139889SLC23A1c.808G>C (p.Val270Leu)
c.820G>C (p.Val274Leu)
c.164+161G>C
n.419G>C
c.928G>C (p.Val310Leu)
c.916G>C (p.Val306Leu)
c.709G>C (p.Val237Leu)
c.613G>C (p.Val205Leu)
c.493G>C (p.Val165Leu)
c.103G>C (p.Val35Leu)
5g.139379795C>TCA361139891SLC23A1c.808G>A (p.Val270Ile)
c.820G>A (p.Val274Ile)
c.164+161G>A
n.419G>A
c.928G>A (p.Val310Ile)
c.916G>A (p.Val306Ile)
c.709G>A (p.Val237Ile)
c.613G>A (p.Val205Ile)
c.493G>A (p.Val165Ile)
c.103G>A (p.Val35Ile)
5g.139379796A>CCA361139894SLC23A1c.807T>G (p.Tyr269Ter)
c.819T>G (p.Tyr273Ter)
c.164+160T>G
n.418T>G
c.927T>G (p.Tyr309Ter)
c.915T>G (p.Tyr305Ter)
c.708T>G (p.Tyr236Ter)
c.612T>G (p.Tyr204Ter)
c.492T>G (p.Tyr164Ter)
c.102T>G (p.Tyr34Ter)
5g.139379796A>GCA446794037SLC23A1c.807T>C (p.Tyr269=)
c.819T>C (p.Tyr273=)
c.164+160T>C
n.418T>C
c.927T>C (p.Tyr309=)
c.915T>C (p.Tyr305=)
c.708T>C (p.Tyr236=)
c.612T>C (p.Tyr204=)
c.492T>C (p.Tyr164=)
c.102T>C (p.Tyr34=)
5g.139379796A>TCA361139896SLC23A1c.807T>A (p.Tyr269Ter)
c.819T>A (p.Tyr273Ter)
c.164+160T>A
n.418T>A
c.927T>A (p.Tyr309Ter)
c.915T>A (p.Tyr305Ter)
c.708T>A (p.Tyr236Ter)
c.612T>A (p.Tyr204Ter)
c.492T>A (p.Tyr164Ter)
c.102T>A (p.Tyr34Ter)
 gnomAD v4
5g.139379797T>ACA361139903SLC23A1c.806A>T (p.Tyr269Phe)
c.818A>T (p.Tyr273Phe)
c.164+159A>T
n.417A>T
c.926A>T (p.Tyr309Phe)
c.914A>T (p.Tyr305Phe)
c.707A>T (p.Tyr236Phe)
c.611A>T (p.Tyr204Phe)
c.491A>T (p.Tyr164Phe)
c.101A>T (p.Tyr34Phe)
5g.139379797T>CCA361139901SLC23A1c.806A>G (p.Tyr269Cys)
c.818A>G (p.Tyr273Cys)
c.164+159A>G
n.417A>G
c.926A>G (p.Tyr309Cys)
c.914A>G (p.Tyr305Cys)
c.707A>G (p.Tyr236Cys)
c.611A>G (p.Tyr204Cys)
c.491A>G (p.Tyr164Cys)
c.101A>G (p.Tyr34Cys)
5g.139379797T>GCA361139899SLC23A1c.806A>C (p.Tyr269Ser)
c.818A>C (p.Tyr273Ser)
c.164+159A>C
n.417A>C
c.926A>C (p.Tyr309Ser)
c.914A>C (p.Tyr305Ser)
c.707A>C (p.Tyr236Ser)
c.611A>C (p.Tyr204Ser)
c.491A>C (p.Tyr164Ser)
c.101A>C (p.Tyr34Ser)
5g.139379797_139379800delinsTAGCCA1586303755SLC23A1c.803_806delinsGCTA (p.Cys268=)
c.815_818delinsGCTA (p.Cys272=)
c.164+156_164+159delinsGCTA
n.414_417delinsGCTA
c.923_926delinsGCTA (p.Cys308=)
c.911_914delinsGCTA (p.Cys304=)
c.704_707delinsGCTA (p.Cys235=)
c.608_611delinsGCTA (p.Cys203=)
c.488_491delinsGCTA (p.Cys163=)
c.98_101delinsGCTA (p.Cys33=)
5g.139379798A=CA1586303759SLC23A1c.805T= (p.Tyr269=)
c.817T= (p.Tyr273=)
c.164+158T=
n.416T=
c.925T= (p.Tyr309=)
c.913T= (p.Tyr305=)
c.706T= (p.Tyr236=)
c.610T= (p.Tyr204=)
c.490T= (p.Tyr164=)
c.100T= (p.Tyr34=)
5g.139379798A>CCA361139907SLC23A1c.805T>G (p.Tyr269Asp)
c.817T>G (p.Tyr273Asp)
c.164+158T>G
n.416T>G
c.925T>G (p.Tyr309Asp)
c.913T>G (p.Tyr305Asp)
c.706T>G (p.Tyr236Asp)
c.610T>G (p.Tyr204Asp)
c.490T>G (p.Tyr164Asp)
c.100T>G (p.Tyr34Asp)
5g.139379798A>GCA361139910SLC23A1c.805T>C (p.Tyr269His)
c.817T>C (p.Tyr273His)
c.164+158T>C
n.416T>C
c.925T>C (p.Tyr309His)
c.913T>C (p.Tyr305His)
c.706T>C (p.Tyr236His)
c.610T>C (p.Tyr204His)
c.490T>C (p.Tyr164His)
c.100T>C (p.Tyr34His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139379798A>TCA361139912SLC23A1c.805T>A (p.Tyr269Asn)
c.817T>A (p.Tyr273Asn)
c.164+158T>A
n.416T>A
c.925T>A (p.Tyr309Asn)
c.913T>A (p.Tyr305Asn)
c.706T>A (p.Tyr236Asn)
c.610T>A (p.Tyr204Asn)
c.490T>A (p.Tyr164Asn)
c.100T>A (p.Tyr34Asn)
5g.139379800_139379802delCA1586303758SLC23A1c.803_805del (p.Cys268del)
c.815_817del (p.Cys272del)
c.164+156_164+158del
n.414_416del
c.923_925del (p.Cys308del)
c.911_913del (p.Cys304del)
c.704_706del (p.Cys235del)
c.608_610del (p.Cys203del)
c.488_490del (p.Cys163del)
c.98_100del (p.Cys33del)
 dbSNP
5g.139379799G>ACA3434041SLC23A1c.804C>T (p.Cys268=)
c.816C>T (p.Cys272=)
c.164+157C>T
n.415C>T
c.924C>T (p.Cys308=)
c.912C>T (p.Cys304=)
c.705C>T (p.Cys235=)
c.609C>T (p.Cys203=)
c.489C>T (p.Cys163=)
c.99C>T (p.Cys33=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379799G>CCA361139917SLC23A1c.804C>G (p.Cys268Trp)
c.816C>G (p.Cys272Trp)
c.164+157C>G
n.415C>G
c.924C>G (p.Cys308Trp)
c.912C>G (p.Cys304Trp)
c.705C>G (p.Cys235Trp)
c.609C>G (p.Cys203Trp)
c.489C>G (p.Cys163Trp)
c.99C>G (p.Cys33Trp)
5g.139379799G=CA1586303763SLC23A1c.804C= (p.Cys268=)
c.816C= (p.Cys272=)
c.164+157C=
n.415C=
c.924C= (p.Cys308=)
c.912C= (p.Cys304=)
c.705C= (p.Cys235=)
c.609C= (p.Cys203=)
c.489C= (p.Cys163=)
c.99C= (p.Cys33=)
5g.139379799G>TCA361139919SLC23A1c.804C>A (p.Cys268Ter)
c.816C>A (p.Cys272Ter)
c.164+157C>A
n.415C>A
c.924C>A (p.Cys308Ter)
c.912C>A (p.Cys304Ter)
c.705C>A (p.Cys235Ter)
c.609C>A (p.Cys203Ter)
c.489C>A (p.Cys163Ter)
c.99C>A (p.Cys33Ter)
5g.139379800C>ACA361139922SLC23A1c.803G>T (p.Cys268Phe)
c.815G>T (p.Cys272Phe)
c.164+156G>T
n.414G>T
c.923G>T (p.Cys308Phe)
c.911G>T (p.Cys304Phe)
c.704G>T (p.Cys235Phe)
c.608G>T (p.Cys203Phe)
c.488G>T (p.Cys163Phe)
c.98G>T (p.Cys33Phe)
5g.139379800C>GCA361139925SLC23A1c.803G>C (p.Cys268Ser)
c.815G>C (p.Cys272Ser)
c.164+156G>C
n.414G>C
c.923G>C (p.Cys308Ser)
c.911G>C (p.Cys304Ser)
c.704G>C (p.Cys235Ser)
c.608G>C (p.Cys203Ser)
c.488G>C (p.Cys163Ser)
c.98G>C (p.Cys33Ser)
5g.139379800C>TCA361139927SLC23A1c.803G>A (p.Cys268Tyr)
c.815G>A (p.Cys272Tyr)
c.164+156G>A
n.414G>A
c.923G>A (p.Cys308Tyr)
c.911G>A (p.Cys304Tyr)
c.704G>A (p.Cys235Tyr)
c.608G>A (p.Cys203Tyr)
c.488G>A (p.Cys163Tyr)
c.98G>A (p.Cys33Tyr)
5g.139379801A>CCA361139931SLC23A1c.802T>G (p.Cys268Gly)
c.814T>G (p.Cys272Gly)
c.164+155T>G
n.413T>G
c.922T>G (p.Cys308Gly)
c.910T>G (p.Cys304Gly)
c.703T>G (p.Cys235Gly)
c.607T>G (p.Cys203Gly)
c.487T>G (p.Cys163Gly)
c.97T>G (p.Cys33Gly)
5g.139379801A>GCA361139933SLC23A1c.802T>C (p.Cys268Arg)
c.814T>C (p.Cys272Arg)
c.164+155T>C
n.413T>C
c.922T>C (p.Cys308Arg)
c.910T>C (p.Cys304Arg)
c.703T>C (p.Cys235Arg)
c.607T>C (p.Cys203Arg)
c.487T>C (p.Cys163Arg)
c.97T>C (p.Cys33Arg)
5g.139379801A>TCA361139935SLC23A1c.802T>A (p.Cys268Ser)
c.814T>A (p.Cys272Ser)
c.164+155T>A
n.413T>A
c.922T>A (p.Cys308Ser)
c.910T>A (p.Cys304Ser)
c.703T>A (p.Cys235Ser)
c.607T>A (p.Cys203Ser)
c.487T>A (p.Cys163Ser)
c.97T>A (p.Cys33Ser)
5g.139379802G>ACA446794038SLC23A1c.801C>T (p.Leu267=)
c.813C>T (p.Leu271=)
c.164+154C>T
n.412C>T
c.921C>T (p.Leu307=)
c.909C>T (p.Leu303=)
c.702C>T (p.Leu234=)
c.606C>T (p.Leu202=)
c.486C>T (p.Leu162=)
c.96C>T (p.Leu32=)
 dbSNP gnomAD v3 gnomAD v4
5g.139379802G>CCA446794039SLC23A1c.801C>G (p.Leu267=)
c.813C>G (p.Leu271=)
c.164+154C>G
n.412C>G
c.921C>G (p.Leu307=)
c.909C>G (p.Leu303=)
c.702C>G (p.Leu234=)
c.606C>G (p.Leu202=)
c.486C>G (p.Leu162=)
c.96C>G (p.Leu32=)
5g.139379802G=CA1586303765SLC23A1c.801C= (p.Leu267=)
c.813C= (p.Leu271=)
c.164+154C=
n.412C=
c.921C= (p.Leu307=)
c.909C= (p.Leu303=)
c.702C= (p.Leu234=)
c.606C= (p.Leu202=)
c.486C= (p.Leu162=)
c.96C= (p.Leu32=)
5g.139379802G>TCA446794040SLC23A1c.801C>A (p.Leu267=)
c.813C>A (p.Leu271=)
c.164+154C>A
n.412C>A
c.921C>A (p.Leu307=)
c.909C>A (p.Leu303=)
c.702C>A (p.Leu234=)
c.606C>A (p.Leu202=)
c.486C>A (p.Leu162=)
c.96C>A (p.Leu32=)
5g.139379803A>CCA361139942SLC23A1c.800T>G (p.Leu267Arg)
c.812T>G (p.Leu271Arg)
c.164+153T>G
n.411T>G
c.920T>G (p.Leu307Arg)
c.908T>G (p.Leu303Arg)
c.701T>G (p.Leu234Arg)
c.605T>G (p.Leu202Arg)
c.485T>G (p.Leu162Arg)
c.95T>G (p.Leu32Arg)
5g.139379803A>GCA361139940SLC23A1c.800T>C (p.Leu267Pro)
c.812T>C (p.Leu271Pro)
c.164+153T>C
n.411T>C
c.920T>C (p.Leu307Pro)
c.908T>C (p.Leu303Pro)
c.701T>C (p.Leu234Pro)
c.605T>C (p.Leu202Pro)
c.485T>C (p.Leu162Pro)
c.95T>C (p.Leu32Pro)
5g.139379803A>TCA361139938SLC23A1c.800T>A (p.Leu267His)
c.812T>A (p.Leu271His)
c.164+153T>A
n.411T>A
c.920T>A (p.Leu307His)
c.908T>A (p.Leu303His)
c.701T>A (p.Leu234His)
c.605T>A (p.Leu202His)
c.485T>A (p.Leu162His)
c.95T>A (p.Leu32His)
5g.139379804G>ACA361139945SLC23A1c.799C>T (p.Leu267Phe)
c.811C>T (p.Leu271Phe)
c.164+152C>T
n.410C>T
c.919C>T (p.Leu307Phe)
c.907C>T (p.Leu303Phe)
c.700C>T (p.Leu234Phe)
c.604C>T (p.Leu202Phe)
c.484C>T (p.Leu162Phe)
c.94C>T (p.Leu32Phe)
 gnomAD v4
5g.139379804G>CCA361139947SLC23A1c.799C>G (p.Leu267Val)
c.811C>G (p.Leu271Val)
c.164+152C>G
n.410C>G
c.919C>G (p.Leu307Val)
c.907C>G (p.Leu303Val)
c.700C>G (p.Leu234Val)
c.604C>G (p.Leu202Val)
c.484C>G (p.Leu162Val)
c.94C>G (p.Leu32Val)
 dbSNP
5g.139379804G=CA1586303767SLC23A1c.799C= (p.Leu267=)
c.811C= (p.Leu271=)
c.164+152C=
n.410C=
c.919C= (p.Leu307=)
c.907C= (p.Leu303=)
c.700C= (p.Leu234=)
c.604C= (p.Leu202=)
c.484C= (p.Leu162=)
c.94C= (p.Leu32=)
5g.139379804G>TCA361139949SLC23A1c.799C>A (p.Leu267Ile)
c.811C>A (p.Leu271Ile)
c.164+152C>A
n.410C>A
c.919C>A (p.Leu307Ile)
c.907C>A (p.Leu303Ile)
c.700C>A (p.Leu234Ile)
c.604C>A (p.Leu202Ile)
c.484C>A (p.Leu162Ile)
c.94C>A (p.Leu32Ile)
5g.139379805C>ACA446794041SLC23A1c.798G>T (p.Leu266=)
c.810G>T (p.Leu270=)
c.164+151G>T
n.409G>T
c.918G>T (p.Leu306=)
c.906G>T (p.Leu302=)
c.699G>T (p.Leu233=)
c.603G>T (p.Leu201=)
c.483G>T (p.Leu161=)
c.93G>T (p.Leu31=)
5g.139379805C=CA1586303772SLC23A1c.798G= (p.Leu266=)
c.810G= (p.Leu270=)
c.164+151G=
n.409G=
c.918G= (p.Leu306=)
c.906G= (p.Leu302=)
c.699G= (p.Leu233=)
c.603G= (p.Leu201=)
c.483G= (p.Leu161=)
c.93G= (p.Leu31=)
5g.139379805C>GCA446794042SLC23A1c.798G>C (p.Leu266=)
c.810G>C (p.Leu270=)
c.164+151G>C
n.409G>C
c.918G>C (p.Leu306=)
c.906G>C (p.Leu302=)
c.699G>C (p.Leu233=)
c.603G>C (p.Leu201=)
c.483G>C (p.Leu161=)
c.93G>C (p.Leu31=)
5g.139379805C>TCA3434042SLC23A1c.798G>A (p.Leu266=)
c.810G>A (p.Leu270=)
c.164+151G>A
n.409G>A
c.918G>A (p.Leu306=)
c.906G>A (p.Leu302=)
c.699G>A (p.Leu233=)
c.603G>A (p.Leu201=)
c.483G>A (p.Leu161=)
c.93G>A (p.Leu31=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139379806A>CCA361139952SLC23A1c.797T>G (p.Leu266Arg)
c.809T>G (p.Leu270Arg)
c.164+150T>G
n.408T>G
c.917T>G (p.Leu306Arg)
c.905T>G (p.Leu302Arg)
c.698T>G (p.Leu233Arg)
c.602T>G (p.Leu201Arg)
c.482T>G (p.Leu161Arg)
c.92T>G (p.Leu31Arg)
5g.139379806A>GCA361139954SLC23A1c.797T>C (p.Leu266Pro)
c.809T>C (p.Leu270Pro)
c.164+150T>C
n.408T>C
c.917T>C (p.Leu306Pro)
c.905T>C (p.Leu302Pro)
c.698T>C (p.Leu233Pro)
c.602T>C (p.Leu201Pro)
c.482T>C (p.Leu161Pro)
c.92T>C (p.Leu31Pro)
5g.139379806A>TCA361139956SLC23A1c.797T>A (p.Leu266Gln)
c.809T>A (p.Leu270Gln)
c.164+150T>A
n.408T>A
c.917T>A (p.Leu306Gln)
c.905T>A (p.Leu302Gln)
c.698T>A (p.Leu233Gln)
c.602T>A (p.Leu201Gln)
c.482T>A (p.Leu161Gln)
c.92T>A (p.Leu31Gln)
5g.139379807G>ACA3434043SLC23A1c.796C>T (p.Leu266=)
c.808C>T (p.Leu270=)
c.164+149C>T
n.407C>T
c.916C>T (p.Leu306=)
c.904C>T (p.Leu302=)
c.697C>T (p.Leu233=)
c.601C>T (p.Leu201=)
c.481C>T (p.Leu161=)
c.91C>T (p.Leu31=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379807G>CCA361139966SLC23A1c.796C>G (p.Leu266Val)
c.808C>G (p.Leu270Val)
c.164+149C>G
n.407C>G
c.916C>G (p.Leu306Val)
c.904C>G (p.Leu302Val)
c.697C>G (p.Leu233Val)
c.601C>G (p.Leu201Val)
c.481C>G (p.Leu161Val)
c.91C>G (p.Leu31Val)
5g.139379807G=CA1586303774SLC23A1c.796C= (p.Leu266=)
c.808C= (p.Leu270=)
c.164+149C=
n.407C=
c.916C= (p.Leu306=)
c.904C= (p.Leu302=)
c.697C= (p.Leu233=)
c.601C= (p.Leu201=)
c.481C= (p.Leu161=)
c.91C= (p.Leu31=)
5g.139379807G>TCA361139968SLC23A1c.796C>A (p.Leu266Met)
c.808C>A (p.Leu270Met)
c.164+149C>A
n.407C>A
c.916C>A (p.Leu306Met)
c.904C>A (p.Leu302Met)
c.697C>A (p.Leu233Met)
c.601C>A (p.Leu201Met)
c.481C>A (p.Leu161Met)
c.91C>A (p.Leu31Met)
5g.139379808C>ACA361139972SLC23A1c.795G>T (p.Trp265Cys)
c.807G>T (p.Trp269Cys)
c.164+148G>T
n.406G>T
c.915G>T (p.Trp305Cys)
c.903G>T (p.Trp301Cys)
c.696G>T (p.Trp232Cys)
c.600G>T (p.Trp200Cys)
c.480G>T (p.Trp160Cys)
c.90G>T (p.Trp30Cys)
5g.139379808C>GCA361139974SLC23A1c.795G>C (p.Trp265Cys)
c.807G>C (p.Trp269Cys)
c.164+148G>C
n.406G>C
c.915G>C (p.Trp305Cys)
c.903G>C (p.Trp301Cys)
c.696G>C (p.Trp232Cys)
c.600G>C (p.Trp200Cys)
c.480G>C (p.Trp160Cys)
c.90G>C (p.Trp30Cys)
5g.139379808C>TCA361139977SLC23A1c.795G>A (p.Trp265Ter)
c.807G>A (p.Trp269Ter)
c.164+148G>A
n.406G>A
c.915G>A (p.Trp305Ter)
c.903G>A (p.Trp301Ter)
c.696G>A (p.Trp232Ter)
c.600G>A (p.Trp200Ter)
c.480G>A (p.Trp160Ter)
c.90G>A (p.Trp30Ter)
5g.139379809C>ACA361139983SLC23A1c.794G>T (p.Trp265Leu)
c.806G>T (p.Trp269Leu)
c.164+147G>T
n.405G>T
c.914G>T (p.Trp305Leu)
c.902G>T (p.Trp301Leu)
c.695G>T (p.Trp232Leu)
c.599G>T (p.Trp200Leu)
c.479G>T (p.Trp160Leu)
c.89G>T (p.Trp30Leu)
5g.139379809C=CA1586303776SLC23A1c.794G= (p.Trp265=)
c.806G= (p.Trp269=)
c.164+147G=
n.405G=
c.914G= (p.Trp305=)
c.902G= (p.Trp301=)
c.695G= (p.Trp232=)
c.599G= (p.Trp200=)
c.479G= (p.Trp160=)
c.89G= (p.Trp30=)
5g.139379809C>GCA361139981SLC23A1c.794G>C (p.Trp265Ser)
c.806G>C (p.Trp269Ser)
c.164+147G>C
n.405G>C
c.914G>C (p.Trp305Ser)
c.902G>C (p.Trp301Ser)
c.695G>C (p.Trp232Ser)
c.599G>C (p.Trp200Ser)
c.479G>C (p.Trp160Ser)
c.89G>C (p.Trp30Ser)
5g.139379809C>TCA3434044SLC23A1c.794G>A (p.Trp265Ter)
c.806G>A (p.Trp269Ter)
c.164+147G>A
n.405G>A
c.914G>A (p.Trp305Ter)
c.902G>A (p.Trp301Ter)
c.695G>A (p.Trp232Ter)
c.599G>A (p.Trp200Ter)
c.479G>A (p.Trp160Ter)
c.89G>A (p.Trp30Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139379810A=CA1586303779SLC23A1c.793T= (p.Trp265=)
c.805T= (p.Trp269=)
c.164+146T=
n.404T=
c.913T= (p.Trp305=)
c.901T= (p.Trp301=)
c.694T= (p.Trp232=)
c.598T= (p.Trp200=)
c.478T= (p.Trp160=)
c.88T= (p.Trp30=)
5g.139379810A>CCA361139987SLC23A1c.793T>G (p.Trp265Gly)
c.805T>G (p.Trp269Gly)
c.164+146T>G
n.404T>G
c.913T>G (p.Trp305Gly)
c.901T>G (p.Trp301Gly)
c.694T>G (p.Trp232Gly)
c.598T>G (p.Trp200Gly)
c.478T>G (p.Trp160Gly)
c.88T>G (p.Trp30Gly)
5g.139379810A>GCA361139989SLC23A1c.793T>C (p.Trp265Arg)
c.805T>C (p.Trp269Arg)
c.164+146T>C
n.404T>C
c.913T>C (p.Trp305Arg)
c.901T>C (p.Trp301Arg)
c.694T>C (p.Trp232Arg)
c.598T>C (p.Trp200Arg)
c.478T>C (p.Trp160Arg)
c.88T>C (p.Trp30Arg)
5g.139379810A>TCA361139990SLC23A1c.793T>A (p.Trp265Arg)
c.805T>A (p.Trp269Arg)
c.164+146T>A
n.404T>A
c.913T>A (p.Trp305Arg)
c.901T>A (p.Trp301Arg)
c.694T>A (p.Trp232Arg)
c.598T>A (p.Trp200Arg)
c.478T>A (p.Trp160Arg)
c.88T>A (p.Trp30Arg)
5g.139379811C>ACA446794044SLC23A1c.792G>T (p.Val264=)
c.804G>T (p.Val268=)
c.164+145G>T
n.403G>T
c.912G>T (p.Val304=)
c.900G>T (p.Val300=)
c.693G>T (p.Val231=)
c.597G>T (p.Val199=)
c.477G>T (p.Val159=)
c.87G>T (p.Val29=)
 gnomAD v4
5g.139379811C=CA1586303783SLC23A1c.792G= (p.Val264=)
c.804G= (p.Val268=)
c.164+145G=
n.403G=
c.912G= (p.Val304=)
c.900G= (p.Val300=)
c.693G= (p.Val231=)
c.597G= (p.Val199=)
c.477G= (p.Val159=)
c.87G= (p.Val29=)
5g.139379811C>GCA446794043SLC23A1c.792G>C (p.Val264=)
c.804G>C (p.Val268=)
c.164+145G>C
n.403G>C
c.912G>C (p.Val304=)
c.900G>C (p.Val300=)
c.693G>C (p.Val231=)
c.597G>C (p.Val199=)
c.477G>C (p.Val159=)
c.87G>C (p.Val29=)
5g.139379811C>TCA3434045SLC23A1c.792G>A (p.Val264=)
c.804G>A (p.Val268=)
c.164+145G>A
n.403G>A
c.912G>A (p.Val304=)
c.900G>A (p.Val300=)
c.693G>A (p.Val231=)
c.597G>A (p.Val199=)
c.477G>A (p.Val159=)
c.87G>A (p.Val29=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379811dupCA128242519SLC23A1c.792dup (p.Trp265ValfsTer?)
c.804dup (p.Trp269ValfsTer?)
c.164+145dup
n.403dup
c.912dup (p.Trp305ValfsTer?)
c.900dup (p.Trp301ValfsTer?)
c.693dup (p.Trp232ValfsTer?)
c.597dup (p.Trp200ValfsTer?)
c.477dup (p.Trp160ValfsTer?)
c.87dup (p.Trp30ValfsTer?)
 dbSNP
5g.139379812A=CA1586303787SLC23A1c.791T= (p.Val264=)
c.803T= (p.Val268=)
c.164+144T=
n.402T=
c.911T= (p.Val304=)
c.899T= (p.Val300=)
c.692T= (p.Val231=)
c.596T= (p.Val199=)
c.476T= (p.Val159=)
c.86T= (p.Val29=)
5g.139379812A>CCA361139995SLC23A1c.791T>G (p.Val264Gly)
c.803T>G (p.Val268Gly)
c.164+144T>G
n.402T>G
c.911T>G (p.Val304Gly)
c.899T>G (p.Val300Gly)
c.692T>G (p.Val231Gly)
c.596T>G (p.Val199Gly)
c.476T>G (p.Val159Gly)
c.86T>G (p.Val29Gly)
5g.139379812A>GCA361139997SLC23A1c.791T>C (p.Val264Ala)
c.803T>C (p.Val268Ala)
c.164+144T>C
n.402T>C
c.911T>C (p.Val304Ala)
c.899T>C (p.Val300Ala)
c.692T>C (p.Val231Ala)
c.596T>C (p.Val199Ala)
c.476T>C (p.Val159Ala)
c.86T>C (p.Val29Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.139379812A>TCA361139998SLC23A1c.791T>A (p.Val264Glu)
c.803T>A (p.Val268Glu)
c.164+144T>A
n.402T>A
c.911T>A (p.Val304Glu)
c.899T>A (p.Val300Glu)
c.692T>A (p.Val231Glu)
c.596T>A (p.Val199Glu)
c.476T>A (p.Val159Glu)
c.86T>A (p.Val29Glu)
5g.139379813C>ACA361140002SLC23A1c.790G>T (p.Val264Leu)
c.802G>T (p.Val268Leu)
c.164+143G>T
n.401G>T
c.910G>T (p.Val304Leu)
c.898G>T (p.Val300Leu)
c.691G>T (p.Val231Leu)
c.595G>T (p.Val199Leu)
c.475G>T (p.Val159Leu)
c.85G>T (p.Val29Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139379813C=CA1586303790SLC23A1c.790G= (p.Val264=)
c.802G= (p.Val268=)
c.164+143G=
n.401G=
c.910G= (p.Val304=)
c.898G= (p.Val300=)
c.691G= (p.Val231=)
c.595G= (p.Val199=)
c.475G= (p.Val159=)
c.85G= (p.Val29=)
5g.139379813C>GCA361140004SLC23A1c.790G>C (p.Val264Leu)
c.802G>C (p.Val268Leu)
c.164+143G>C
n.401G>C
c.910G>C (p.Val304Leu)
c.898G>C (p.Val300Leu)
c.691G>C (p.Val231Leu)
c.595G>C (p.Val199Leu)
c.475G>C (p.Val159Leu)
c.85G>C (p.Val29Leu)
 dbSNP
5g.139379813C>TCA3434046SLC23A1c.790G>A (p.Val264Met)
c.802G>A (p.Val268Met)
c.164+143G>A
n.401G>A
c.910G>A (p.Val304Met)
c.898G>A (p.Val300Met)
c.691G>A (p.Val231Met)
c.595G>A (p.Val199Met)
c.475G>A (p.Val159Met)
c.85G>A (p.Val29Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379814G>ACA3434047SLC23A1c.789C>T (p.Thr263=)
c.801C>T (p.Thr267=)
c.164+142C>T
n.400C>T
c.909C>T (p.Thr303=)
c.897C>T (p.Thr299=)
c.690C>T (p.Thr230=)
c.594C>T (p.Thr198=)
c.474C>T (p.Thr158=)
c.84C>T (p.Thr28=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139379814G>CCA446794046SLC23A1c.789C>G (p.Thr263=)
c.801C>G (p.Thr267=)
c.164+142C>G
n.400C>G
c.909C>G (p.Thr303=)
c.897C>G (p.Thr299=)
c.690C>G (p.Thr230=)
c.594C>G (p.Thr198=)
c.474C>G (p.Thr158=)
c.84C>G (p.Thr28=)
5g.139379814G=CA1586303794SLC23A1c.789C= (p.Thr263=)
c.801C= (p.Thr267=)
c.164+142C=
n.400C=
c.909C= (p.Thr303=)
c.897C= (p.Thr299=)
c.690C= (p.Thr230=)
c.594C= (p.Thr198=)
c.474C= (p.Thr158=)
c.84C= (p.Thr28=)
5g.139379814G>TCA446794045SLC23A1c.789C>A (p.Thr263=)
c.801C>A (p.Thr267=)
c.164+142C>A
n.400C>A
c.909C>A (p.Thr303=)
c.897C>A (p.Thr299=)
c.690C>A (p.Thr230=)
c.594C>A (p.Thr198=)
c.474C>A (p.Thr158=)
c.84C>A (p.Thr28=)
5g.139379815G>ACA361140010SLC23A1c.788C>T (p.Thr263Ile)
c.800C>T (p.Thr267Ile)
c.164+141C>T
n.399C>T
c.908C>T (p.Thr303Ile)
c.896C>T (p.Thr299Ile)
c.689C>T (p.Thr230Ile)
c.593C>T (p.Thr198Ile)
c.473C>T (p.Thr158Ile)
c.83C>T (p.Thr28Ile)
 gnomAD v4
5g.139379815G>CCA361140013SLC23A1c.788C>G (p.Thr263Ser)
c.800C>G (p.Thr267Ser)
c.164+141C>G
n.399C>G
c.908C>G (p.Thr303Ser)
c.896C>G (p.Thr299Ser)
c.689C>G (p.Thr230Ser)
c.593C>G (p.Thr198Ser)
c.473C>G (p.Thr158Ser)
c.83C>G (p.Thr28Ser)
5g.139379815G>TCA361140015SLC23A1c.788C>A (p.Thr263Asn)
c.800C>A (p.Thr267Asn)
c.164+141C>A
n.399C>A
c.908C>A (p.Thr303Asn)
c.896C>A (p.Thr299Asn)
c.689C>A (p.Thr230Asn)
c.593C>A (p.Thr198Asn)
c.473C>A (p.Thr158Asn)
c.83C>A (p.Thr28Asn)
5g.139379816T>ACA361140027SLC23A1c.787A>T (p.Thr263Ser)
c.799A>T (p.Thr267Ser)
c.164+140A>T
n.398A>T
c.907A>T (p.Thr303Ser)
c.895A>T (p.Thr299Ser)
c.688A>T (p.Thr230Ser)
c.592A>T (p.Thr198Ser)
c.472A>T (p.Thr158Ser)
c.82A>T (p.Thr28Ser)
5g.139379816T>CCA361140029SLC23A1c.787A>G (p.Thr263Ala)
c.799A>G (p.Thr267Ala)
c.164+140A>G
n.398A>G
c.907A>G (p.Thr303Ala)
c.895A>G (p.Thr299Ala)
c.688A>G (p.Thr230Ala)
c.592A>G (p.Thr198Ala)
c.472A>G (p.Thr158Ala)
c.82A>G (p.Thr28Ala)
 dbSNP
5g.139379816T>GCA361140018SLC23A1c.787A>C (p.Thr263Pro)
c.799A>C (p.Thr267Pro)
c.164+140A>C
n.398A>C
c.907A>C (p.Thr303Pro)
c.895A>C (p.Thr299Pro)
c.688A>C (p.Thr230Pro)
c.592A>C (p.Thr198Pro)
c.472A>C (p.Thr158Pro)
c.82A>C (p.Thr28Pro)
5g.139379817C>ACA361140033SLC23A1c.786G>T (p.Met262Ile)
c.798G>T (p.Met266Ile)
c.164+139G>T
n.397G>T
c.906G>T (p.Met302Ile)
c.894G>T (p.Met298Ile)
c.687G>T (p.Met229Ile)
c.591G>T (p.Met197Ile)
c.471G>T (p.Met157Ile)
c.81G>T (p.Met27Ile)
5g.139379817C=CA1586303796SLC23A1c.786G= (p.Met262=)
c.798G= (p.Met266=)
c.164+139G=
n.397G=
c.906G= (p.Met302=)
c.894G= (p.Met298=)
c.687G= (p.Met229=)
c.591G= (p.Met197=)
c.471G= (p.Met157=)
c.81G= (p.Met27=)
5g.139379817C>GCA361140035SLC23A1c.786G>C (p.Met262Ile)
c.798G>C (p.Met266Ile)
c.164+139G>C
n.397G>C
c.906G>C (p.Met302Ile)
c.894G>C (p.Met298Ile)
c.687G>C (p.Met229Ile)
c.591G>C (p.Met197Ile)
c.471G>C (p.Met157Ile)
c.81G>C (p.Met27Ile)
5g.139379817C>TCA128242528SLC23A1c.786G>A (p.Met262Ile)
c.798G>A (p.Met266Ile)
c.164+139G>A
n.397G>A
c.906G>A (p.Met302Ile)
c.894G>A (p.Met298Ile)
c.687G>A (p.Met229Ile)
c.591G>A (p.Met197Ile)
c.471G>A (p.Met157Ile)
c.81G>A (p.Met27Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.139379818A=CA1586303800SLC23A1c.785T= (p.Met262=)
c.797T= (p.Met266=)
c.164+138T=
n.396T=
c.905T= (p.Met302=)
c.893T= (p.Met298=)
c.686T= (p.Met229=)
c.590T= (p.Met197=)
c.470T= (p.Met157=)
c.80T= (p.Met27=)
5g.139379818A>CCA361140040SLC23A1c.785T>G (p.Met262Arg)
c.797T>G (p.Met266Arg)
c.164+138T>G
n.396T>G
c.905T>G (p.Met302Arg)
c.893T>G (p.Met298Arg)
c.686T>G (p.Met229Arg)
c.590T>G (p.Met197Arg)
c.470T>G (p.Met157Arg)
c.80T>G (p.Met27Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.139379818A>GCA361140043SLC23A1c.785T>C (p.Met262Thr)
c.797T>C (p.Met266Thr)
c.164+138T>C
n.396T>C
c.905T>C (p.Met302Thr)
c.893T>C (p.Met298Thr)
c.686T>C (p.Met229Thr)
c.590T>C (p.Met197Thr)
c.470T>C (p.Met157Thr)
c.80T>C (p.Met27Thr)
5g.139379818A>TCA361140046SLC23A1c.785T>A (p.Met262Lys)
c.797T>A (p.Met266Lys)
c.164+138T>A
n.396T>A
c.905T>A (p.Met302Lys)
c.893T>A (p.Met298Lys)
c.686T>A (p.Met229Lys)
c.590T>A (p.Met197Lys)
c.470T>A (p.Met157Lys)
c.80T>A (p.Met27Lys)
5g.139379819T>ACA361140049SLC23A1c.784A>T (p.Met262Leu)
c.796A>T (p.Met266Leu)
c.164+137A>T
n.395A>T
c.904A>T (p.Met302Leu)
c.892A>T (p.Met298Leu)
c.685A>T (p.Met229Leu)
c.589A>T (p.Met197Leu)
c.469A>T (p.Met157Leu)
c.79A>T (p.Met27Leu)
5g.139379819T>CCA361140051SLC23A1c.784A>G (p.Met262Val)
c.796A>G (p.Met266Val)
c.164+137A>G
n.395A>G
c.904A>G (p.Met302Val)
c.892A>G (p.Met298Val)
c.685A>G (p.Met229Val)
c.589A>G (p.Met197Val)
c.469A>G (p.Met157Val)
c.79A>G (p.Met27Val)
5g.139379819T>GCA361140054SLC23A1c.784A>C (p.Met262Leu)
c.796A>C (p.Met266Leu)
c.164+137A>C
n.395A>C
c.904A>C (p.Met302Leu)
c.892A>C (p.Met298Leu)
c.685A>C (p.Met229Leu)
c.589A>C (p.Met197Leu)
c.469A>C (p.Met157Leu)
c.79A>C (p.Met27Leu)
5g.139379820G>ACA446794060SLC23A1c.783C>T (p.Ile261=)
c.795C>T (p.Ile265=)
c.164+136C>T
n.394C>T
c.903C>T (p.Ile301=)
c.891C>T (p.Ile297=)
c.684C>T (p.Ile228=)
c.588C>T (p.Ile196=)
c.468C>T (p.Ile156=)
c.78C>T (p.Ile26=)
 dbSNP gnomAD v2
5g.139379820G>CCA361140056SLC23A1c.783C>G (p.Ile261Met)
c.795C>G (p.Ile265Met)
c.164+136C>G
n.394C>G
c.903C>G (p.Ile301Met)
c.891C>G (p.Ile297Met)
c.684C>G (p.Ile228Met)
c.588C>G (p.Ile196Met)
c.468C>G (p.Ile156Met)
c.78C>G (p.Ile26Met)
 COSMIC
5g.139379820G=CA1586303803SLC23A1c.783C= (p.Ile261=)
c.795C= (p.Ile265=)
c.164+136C=
n.394C=
c.903C= (p.Ile301=)
c.891C= (p.Ile297=)
c.684C= (p.Ile228=)
c.588C= (p.Ile196=)
c.468C= (p.Ile156=)
c.78C= (p.Ile26=)
5g.139379820G>TCA446794061SLC23A1c.783C>A (p.Ile261=)
c.795C>A (p.Ile265=)
c.164+136C>A
n.394C>A
c.903C>A (p.Ile301=)
c.891C>A (p.Ile297=)
c.684C>A (p.Ile228=)
c.588C>A (p.Ile196=)
c.468C>A (p.Ile156=)
c.78C>A (p.Ile26=)
5g.139379821A>CCA361140058SLC23A1c.782T>G (p.Ile261Ser)
c.794T>G (p.Ile265Ser)
c.164+135T>G
n.393T>G
c.902T>G (p.Ile301Ser)
c.890T>G (p.Ile297Ser)
c.683T>G (p.Ile228Ser)
c.587T>G (p.Ile196Ser)
c.467T>G (p.Ile156Ser)
c.77T>G (p.Ile26Ser)
5g.139379821A>GCA361140060SLC23A1c.782T>C (p.Ile261Thr)
c.794T>C (p.Ile265Thr)
c.164+135T>C
n.393T>C
c.902T>C (p.Ile301Thr)
c.890T>C (p.Ile297Thr)
c.683T>C (p.Ile228Thr)
c.587T>C (p.Ile196Thr)
c.467T>C (p.Ile156Thr)
c.77T>C (p.Ile26Thr)
5g.139379821A>TCA361140062SLC23A1c.782T>A (p.Ile261Asn)
c.794T>A (p.Ile265Asn)
c.164+135T>A
n.393T>A
c.902T>A (p.Ile301Asn)
c.890T>A (p.Ile297Asn)
c.683T>A (p.Ile228Asn)
c.587T>A (p.Ile196Asn)
c.467T>A (p.Ile156Asn)
c.77T>A (p.Ile26Asn)
5g.139379822T>ACA361140066SLC23A1c.781A>T (p.Ile261Phe)
c.793A>T (p.Ile265Phe)
c.164+134A>T
n.392A>T
c.901A>T (p.Ile301Phe)
c.889A>T (p.Ile297Phe)
c.682A>T (p.Ile228Phe)
c.586A>T (p.Ile196Phe)
c.466A>T (p.Ile156Phe)
c.76A>T (p.Ile26Phe)
5g.139379822T>CCA361140071SLC23A1c.781A>G (p.Ile261Val)
c.793A>G (p.Ile265Val)
c.164+134A>G
n.392A>G
c.901A>G (p.Ile301Val)
c.889A>G (p.Ile297Val)
c.682A>G (p.Ile228Val)
c.586A>G (p.Ile196Val)
c.466A>G (p.Ile156Val)
c.76A>G (p.Ile26Val)
5g.139379822T>GCA361140068SLC23A1c.781A>C (p.Ile261Leu)
c.793A>C (p.Ile265Leu)
c.164+134A>C
n.392A>C
c.901A>C (p.Ile301Leu)
c.889A>C (p.Ile297Leu)
c.682A>C (p.Ile228Leu)
c.586A>C (p.Ile196Leu)
c.466A>C (p.Ile156Leu)
c.76A>C (p.Ile26Leu)
5g.139379823G>ACA446794066SLC23A1c.780C>T (p.Ala260=)
c.792C>T (p.Ala264=)
c.164+133C>T
n.391C>T
c.900C>T (p.Ala300=)
c.888C>T (p.Ala296=)
c.681C>T (p.Ala227=)
c.585C>T (p.Ala195=)
c.465C>T (p.Ala155=)
c.75C>T (p.Ala25=)
 gnomAD v4
5g.139379823G>CCA446794068SLC23A1c.780C>G (p.Ala260=)
c.792C>G (p.Ala264=)
c.164+133C>G
n.391C>G
c.900C>G (p.Ala300=)
c.888C>G (p.Ala296=)
c.681C>G (p.Ala227=)
c.585C>G (p.Ala195=)
c.465C>G (p.Ala155=)
c.75C>G (p.Ala25=)
5g.139379823G>TCA446794069SLC23A1c.780C>A (p.Ala260=)
c.792C>A (p.Ala264=)
c.164+133C>A
n.391C>A
c.900C>A (p.Ala300=)
c.888C>A (p.Ala296=)
c.681C>A (p.Ala227=)
c.585C>A (p.Ala195=)
c.465C>A (p.Ala155=)
c.75C>A (p.Ala25=)
5g.139379823_139379827delinsGGCCACA1586303805SLC23A1c.776_780delinsTGGCC (p.Leu259=)
c.788_792delinsTGGCC (p.Leu263=)
c.164+129_164+133delinsTGGCC
n.387_391delinsTGGCC
c.896_900delinsTGGCC (p.Leu299=)
c.884_888delinsTGGCC (p.Leu295=)
c.677_681delinsTGGCC (p.Leu226=)
c.581_585delinsTGGCC (p.Leu194=)
c.461_465delinsTGGCC (p.Leu154=)
c.71_75delinsTGGCC (p.Leu24=)
5g.139379824G>ACA361140074SLC23A1c.779C>T (p.Ala260Val)
c.791C>T (p.Ala264Val)
c.164+132C>T
n.390C>T
c.899C>T (p.Ala300Val)
c.887C>T (p.Ala296Val)
c.680C>T (p.Ala227Val)
c.584C>T (p.Ala195Val)
c.464C>T (p.Ala155Val)
c.74C>T (p.Ala25Val)
5g.139379824G>CCA361140075SLC23A1c.779C>G (p.Ala260Gly)
c.791C>G (p.Ala264Gly)
c.164+132C>G
n.390C>G
c.899C>G (p.Ala300Gly)
c.887C>G (p.Ala296Gly)
c.680C>G (p.Ala227Gly)
c.584C>G (p.Ala195Gly)
c.464C>G (p.Ala155Gly)
c.74C>G (p.Ala25Gly)
5g.139379824G=CA1586303809SLC23A1c.779C= (p.Ala260=)
c.791C= (p.Ala264=)
c.164+132C=
n.390C=
c.899C= (p.Ala300=)
c.887C= (p.Ala296=)
c.680C= (p.Ala227=)
c.584C= (p.Ala195=)
c.464C= (p.Ala155=)
c.74C= (p.Ala25=)
5g.139379824G>TCA361140077SLC23A1c.779C>A (p.Ala260Asp)
c.791C>A (p.Ala264Asp)
c.164+132C>A
n.390C>A
c.899C>A (p.Ala300Asp)
c.887C>A (p.Ala296Asp)
c.680C>A (p.Ala227Asp)
c.584C>A (p.Ala195Asp)
c.464C>A (p.Ala155Asp)
c.74C>A (p.Ala25Asp)
 dbSNP gnomAD v2 gnomAD v4
5g.139379826_139379829delCA917592882SLC23A1c.776_779del (p.Leu259ProfsTer3)
c.788_791del (p.Leu263ProfsTer3)
c.164+129_164+132del
n.387_390del
c.896_899del (p.Leu299ProfsTer3)
c.884_887del (p.Leu295ProfsTer3)
c.677_680del (p.Leu226ProfsTer3)
c.581_584del (p.Leu194ProfsTer3)
c.461_464del (p.Leu154ProfsTer3)
c.71_74del (p.Leu24ProfsTer3)
 dbSNP
5g.139379825C>ACA361140080SLC23A1c.778G>T (p.Ala260Ser)
c.790G>T (p.Ala264Ser)
c.164+131G>T
n.389G>T
c.898G>T (p.Ala300Ser)
c.886G>T (p.Ala296Ser)
c.679G>T (p.Ala227Ser)
c.583G>T (p.Ala195Ser)
c.463G>T (p.Ala155Ser)
c.73G>T (p.Ala25Ser)
5g.139379825C>GCA361140083SLC23A1c.778G>C (p.Ala260Pro)
c.790G>C (p.Ala264Pro)
c.164+131G>C
n.389G>C
c.898G>C (p.Ala300Pro)
c.886G>C (p.Ala296Pro)
c.679G>C (p.Ala227Pro)
c.583G>C (p.Ala195Pro)
c.463G>C (p.Ala155Pro)
c.73G>C (p.Ala25Pro)
5g.139379825C>TCA361140085SLC23A1c.778G>A (p.Ala260Thr)
c.790G>A (p.Ala264Thr)
c.164+131G>A
n.389G>A
c.898G>A (p.Ala300Thr)
c.886G>A (p.Ala296Thr)
c.679G>A (p.Ala227Thr)
c.583G>A (p.Ala195Thr)
c.463G>A (p.Ala155Thr)
c.73G>A (p.Ala25Thr)

Number of alleles fetched