Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.149978200_149978296dupCA2768879950SLC26A2n.780_876dup
c.548_644dup (p.Cys216TrpfsTer3)
c.221_317dup (p.Cys107TrpfsTer3)
5g.149978223_149978224delinsTTCA2695205644SLC26A2n.803_804delinsTT
c.571_572delinsTT (p.Ala191Phe)
c.244_245delinsTT (p.Ala82Phe)
5g.149978223_149978226delinsGCTCCA1590737463SLC26A2n.803_806delinsGCTC
c.571_574delinsGCTC (p.Ala191=)
c.244_247delinsGCTC (p.Ala82=)
5g.149978224C>ACA361705272SLC26A2n.804C>A
c.572C>A (p.Ala191Asp)
c.245C>A (p.Ala82Asp)
5g.149978224C=CA1590737465SLC26A2n.804C=
c.572C= (p.Ala191=)
c.245C= (p.Ala82=)
5g.149978224C>GCA361705271SLC26A2n.804C>G
c.572C>G (p.Ala191Gly)
c.245C>G (p.Ala82Gly)
5g.149978224C>TCA3505279SLC26A2n.804C>T
c.572C>T (p.Ala191Val)
c.245C>T (p.Ala82Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.149978224_149978228delCA913108444SLC26A2n.804_808del
c.572_576del (p.Ala191ValfsTer21)
c.245_249del (p.Ala82ValfsTer21)
5g.149978224_149978228delinsCTCCTCA1590737466SLC26A2n.804_808delinsCTCCT
c.572_576delinsCTCCT (p.Ala191=)
c.245_249delinsCTCCT (p.Ala82=)
5g.149978226_149978228delCA3505278SLC26A2n.806_808del
c.574_576del (p.Pro192del)
c.247_249del (p.Pro83del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978225T>ACA447402102SLC26A2n.805T>A
c.573T>A (p.Ala191=)
c.246T>A (p.Ala82=)
5g.149978225T>CCA129082682SLC26A2n.805T>C
c.573T>C (p.Ala191=)
c.246T>C (p.Ala82=)
ClinVar dbSNP gnomAD v4
5g.149978225T>GCA129082685SLC26A2n.805T>G
c.573T>G (p.Ala191=)
c.246T>G (p.Ala82=)
ClinVar dbSNP gnomAD v4
5g.149978225T=CA1590737467SLC26A2n.805T=
c.573T= (p.Ala191=)
c.246T= (p.Ala82=)
5g.149978230_149978233delCA658822214SLC26A2n.810_813del
c.578_581del (p.Ser193Ter)
c.251_254del (p.Ser84Ter)
ClinVar dbSNP
5g.149978226C>ACA361705273SLC26A2n.806C>A
c.574C>A (p.Pro192Thr)
c.247C>A (p.Pro83Thr)
5g.149978226C>GCA361705274SLC26A2n.806C>G
c.574C>G (p.Pro192Ala)
c.247C>G (p.Pro83Ala)
5g.149978226C>TCA361705275SLC26A2n.806C>T
c.574C>T (p.Pro192Ser)
c.247C>T (p.Pro83Ser)
gnomAD v4
5g.149978227C>ACA361705276SLC26A2n.807C>A
c.575C>A (p.Pro192His)
c.248C>A (p.Pro83His)
5g.149978227C=CA1590737468SLC26A2n.807C=
c.575C= (p.Pro192=)
c.248C= (p.Pro83=)
5g.149978227C>GCA361705277SLC26A2n.807C>G
c.575C>G (p.Pro192Arg)
c.248C>G (p.Pro83Arg)
dbSNP gnomAD v3 gnomAD v4
5g.149978227C>TCA361705278SLC26A2n.807C>T
c.575C>T (p.Pro192Leu)
c.248C>T (p.Pro83Leu)
gnomAD v4
5g.149978227_149978228insCATTTGAAACCACA2830539955SLC26A2n.807_808insCATTTGAAACCA
c.575_576insCATTTGAAACCA (p.Pro193IlefsTer2)
c.248_249insCATTTGAAACCA (p.Pro84IlefsTer2)
5g.149978228T>ACA447402108SLC26A2n.808T>A
c.576T>A (p.Pro192=)
c.249T>A (p.Pro83=)
5g.149978228T>CCA447402110SLC26A2n.808T>C
c.576T>C (p.Pro192=)
c.249T>C (p.Pro83=)
gnomAD v4
5g.149978228T>GCA447402111SLC26A2n.808T>G
c.576T>G (p.Pro192=)
c.249T>G (p.Pro83=)
5g.149978229T>ACA361705279SLC26A2n.809T>A
c.577T>A (p.Ser193Thr)
c.250T>A (p.Ser84Thr)
5g.149978229T>CCA361705280SLC26A2n.809T>C
c.577T>C (p.Ser193Pro)
c.250T>C (p.Ser84Pro)
dbSNP gnomAD v3 gnomAD v4
5g.149978229T>GCA361705281SLC26A2n.809T>G
c.577T>G (p.Ser193Ala)
c.250T>G (p.Ser84Ala)
5g.149978229T=CA1590737469SLC26A2n.809T=
c.577T= (p.Ser193=)
c.250T= (p.Ser84=)
5g.149978230C>ACA361705282SLC26A2n.810C>A
c.578C>A (p.Ser193Tyr)
c.251C>A (p.Ser84Tyr)
5g.149978230C>GCA361705283SLC26A2n.810C>G
c.578C>G (p.Ser193Cys)
c.251C>G (p.Ser84Cys)
5g.149978230C>TCA361705284SLC26A2n.810C>T
c.578C>T (p.Ser193Phe)
c.251C>T (p.Ser84Phe)
5g.149978231C>ACA447402116SLC26A2n.811C>A
c.579C>A (p.Ser193=)
c.252C>A (p.Ser84=)
5g.149978231C>GCA447402117SLC26A2n.811C>G
c.579C>G (p.Ser193=)
c.252C>G (p.Ser84=)
gnomAD v4
5g.149978231C>TCA447402115SLC26A2n.811C>T
c.579C>T (p.Ser193=)
c.252C>T (p.Ser84=)
5g.149978232T>ACA361705286SLC26A2n.812T>A
c.580T>A (p.Leu194Ile)
c.253T>A (p.Leu85Ile)
5g.149978232T>CCA447402119SLC26A2n.812T>C
c.580T>C (p.Leu194=)
c.253T>C (p.Leu85=)
5g.149978232T>GCA361705285SLC26A2n.812T>G
c.580T>G (p.Leu194Val)
c.253T>G (p.Leu85Val)
5g.149978233_149978239delCA2768879961SLC26A2n.813_819del
c.581_587del (p.Leu194TrpfsTer9)
c.254_260del (p.Leu85TrpfsTer9)
5g.149978233T>ACA361705287SLC26A2n.813T>A
c.581T>A (p.Leu194Ter)
c.254T>A (p.Leu85Ter)
dbSNP gnomAD v2 gnomAD v4
5g.149978233T>CCA361705288SLC26A2n.813T>C
c.581T>C (p.Leu194Ser)
c.254T>C (p.Leu85Ser)
5g.149978233T>GCA361705289SLC26A2n.813T>G
c.581T>G (p.Leu194Ter)
c.254T>G (p.Leu85Ter)
5g.149978233T=CA1590737470SLC26A2n.813T=
c.581T= (p.Leu194=)
c.254T= (p.Leu85=)
5g.149978234A>CCA361705290SLC26A2n.814A>C
c.582A>C (p.Leu194Phe)
c.255A>C (p.Leu85Phe)
5g.149978234A>GCA447402123SLC26A2n.814A>G
c.582A>G (p.Leu194=)
c.255A>G (p.Leu85=)
5g.149978234A>TCA361705291SLC26A2n.814A>T
c.582A>T (p.Leu194Phe)
c.255A>T (p.Leu85Phe)
5g.149978235G>ACA361705294SLC26A2n.815G>A
c.583G>A (p.Gly195Arg)
c.256G>A (p.Gly86Arg)
dbSNP gnomAD v3 gnomAD v4
5g.149978235G>CCA361705293SLC26A2n.815G>C
c.583G>C (p.Gly195Arg)
c.256G>C (p.Gly86Arg)
dbSNP gnomAD v2 gnomAD v4
5g.149978235G=CA1590737471SLC26A2n.815G=
c.583G= (p.Gly195=)
c.256G= (p.Gly86=)
5g.149978235G>TCA361705292SLC26A2n.815G>T
c.583G>T (p.Gly195Ter)
c.256G>T (p.Gly86Ter)
5g.149978236G>ACA361705295SLC26A2n.816G>A
c.584G>A (p.Gly195Glu)
c.257G>A (p.Gly86Glu)
5g.149978236G>CCA361705296SLC26A2n.816G>C
c.584G>C (p.Gly195Ala)
c.257G>C (p.Gly86Ala)
5g.149978236G>TCA361705297SLC26A2n.816G>T
c.584G>T (p.Gly195Val)
c.257G>T (p.Gly86Val)
5g.149978237A>CCA447402127SLC26A2n.817A>C
c.585A>C (p.Gly195=)
c.258A>C (p.Gly86=)
5g.149978237A>GCA447402128SLC26A2n.817A>G
c.585A>G (p.Gly195=)
c.258A>G (p.Gly86=)
5g.149978237A>TCA447402126SLC26A2n.817A>T
c.585A>T (p.Gly195=)
c.258A>T (p.Gly86=)
5g.149978238A>CCA361705298SLC26A2n.818A>C
c.586A>C (p.Met196Leu)
c.259A>C (p.Met87Leu)
COSMIC
5g.149978238A>GCA361705299SLC26A2n.818A>G
c.586A>G (p.Met196Val)
c.259A>G (p.Met87Val)
5g.149978238A>TCA361705300SLC26A2n.818A>T
c.586A>T (p.Met196Leu)
c.259A>T (p.Met87Leu)
5g.149978239T>ACA361705303SLC26A2n.819T>A
c.587T>A (p.Met196Lys)
c.260T>A (p.Met87Lys)
5g.149978239T>CCA361705301SLC26A2n.819T>C
c.587T>C (p.Met196Thr)
c.260T>C (p.Met87Thr)
5g.149978239T>GCA361705302SLC26A2n.819T>G
c.587T>G (p.Met196Arg)
c.260T>G (p.Met87Arg)
5g.149978239_149978250delCA2830539956SLC26A2n.819_830del
c.587_598del (p.Met196_Gly200delinsArg)
c.260_271del (p.Met87_Gly91delinsArg)
5g.149978240G>ACA361705304SLC26A2n.820G>A
c.588G>A (p.Met196Ile)
c.261G>A (p.Met87Ile)
5g.149978240G>CCA361705305SLC26A2n.820G>C
c.588G>C (p.Met196Ile)
c.261G>C (p.Met87Ile)
5g.149978240G>TCA361705306SLC26A2n.820G>T
c.588G>T (p.Met196Ile)
c.261G>T (p.Met87Ile)
5g.149978241G>ACA361705307SLC26A2n.821G>A
c.589G>A (p.Val197Ile)
c.262G>A (p.Val88Ile)
5g.149978241G>CCA361705308SLC26A2n.821G>C
c.589G>C (p.Val197Leu)
c.262G>C (p.Val88Leu)
5g.149978241G>TCA361705309SLC26A2n.821G>T
c.589G>T (p.Val197Phe)
c.262G>T (p.Val88Phe)
5g.149978242T>ACA361705310SLC26A2n.822T>A
c.590T>A (p.Val197Asp)
c.263T>A (p.Val88Asp)
5g.149978242T>CCA361705311SLC26A2n.822T>C
c.590T>C (p.Val197Ala)
c.263T>C (p.Val88Ala)
5g.149978242T>GCA361705312SLC26A2n.822T>G
c.590T>G (p.Val197Gly)
c.263T>G (p.Val88Gly)
5g.149978243T>ACA447402137SLC26A2n.823T>A
c.591T>A (p.Val197=)
c.264T>A (p.Val88=)
5g.149978243T>CCA447402133SLC26A2n.823T>C
c.591T>C (p.Val197=)
c.264T>C (p.Val88=)
5g.149978243T>GCA447402135SLC26A2n.823T>G
c.591T>G (p.Val197=)
c.264T>G (p.Val88=)
5g.149978244T>ACA361705313SLC26A2n.824T>A
c.592T>A (p.Ser198Thr)
c.265T>A (p.Ser89Thr)
5g.149978244T>CCA361705314SLC26A2n.824T>C
c.592T>C (p.Ser198Pro)
c.265T>C (p.Ser89Pro)
5g.149978244T>GCA361705315SLC26A2n.824T>G
c.592T>G (p.Ser198Ala)
c.265T>G (p.Ser89Ala)
5g.149978245C>ACA361705318SLC26A2n.825C>A
c.593C>A (p.Ser198Ter)
c.266C>A (p.Ser89Ter)
gnomAD v4
5g.149978245C>GCA361705316SLC26A2n.825C>G
c.593C>G (p.Ser198Ter)
c.266C>G (p.Ser89Ter)
5g.149978245C>TCA361705317SLC26A2n.825C>T
c.593C>T (p.Ser198Leu)
c.266C>T (p.Ser89Leu)
5g.149978246A>CCA447402142SLC26A2n.826A>C
c.594A>C (p.Ser198=)
c.267A>C (p.Ser89=)
5g.149978246A>GCA447402143SLC26A2n.826A>G
c.594A>G (p.Ser198=)
c.267A>G (p.Ser89=)
5g.149978246A>TCA447402144SLC26A2n.826A>T
c.594A>T (p.Ser198=)
c.267A>T (p.Ser89=)
5g.149978247A=CA1590737472SLC26A2n.827A=
c.595A= (p.Asn199=)
c.268A= (p.Asn90=)
5g.149978247A>CCA361705319SLC26A2n.827A>C
c.595A>C (p.Asn199His)
c.268A>C (p.Asn90His)
5g.149978247A>GCA3505280SLC26A2n.827A>G
c.595A>G (p.Asn199Asp)
c.268A>G (p.Asn90Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978247A>TCA361705320SLC26A2n.827A>T
c.595A>T (p.Asn199Tyr)
c.268A>T (p.Asn90Tyr)
5g.149978248A>CCA361705321SLC26A2n.828A>C
c.596A>C (p.Asn199Thr)
c.269A>C (p.Asn90Thr)
5g.149978248A>GCA361705323SLC26A2n.828A>G
c.596A>G (p.Asn199Ser)
c.269A>G (p.Asn90Ser)
ClinVar dbSNP
5g.149978248A>TCA361705322SLC26A2n.828A>T
c.596A>T (p.Asn199Ile)
c.269A>T (p.Asn90Ile)
5g.149978249T>ACA361705324SLC26A2n.829T>A
c.597T>A (p.Asn199Lys)
c.270T>A (p.Asn90Lys)
5g.149978249T>CCA447402145SLC26A2n.829T>C
c.597T>C (p.Asn199=)
c.270T>C (p.Asn90=)
COSMIC
5g.149978249T>GCA361705325SLC26A2n.829T>G
c.597T>G (p.Asn199Lys)
c.270T>G (p.Asn90Lys)
5g.149978250G>ACA361705326SLC26A2n.830G>A
c.598G>A (p.Gly200Arg)
c.271G>A (p.Gly91Arg)
5g.149978250G>CCA361705327SLC26A2n.830G>C
c.598G>C (p.Gly200Arg)
c.271G>C (p.Gly91Arg)
5g.149978250G>TCA361705328SLC26A2n.830G>T
c.598G>T (p.Gly200Trp)
c.271G>T (p.Gly91Trp)
5g.149978251G>ACA361705329SLC26A2n.831G>A
c.599G>A (p.Gly200Glu)
c.272G>A (p.Gly91Glu)
dbSNP
5g.149978251G>CCA361705330SLC26A2n.831G>C
c.599G>C (p.Gly200Ala)
c.272G>C (p.Gly91Ala)
5g.149978251G=CA1590737473SLC26A2n.831G=
c.599G= (p.Gly200=)
c.272G= (p.Gly91=)
5g.149978251G>TCA3505281SLC26A2n.831G>T
c.599G>T (p.Gly200Val)
c.272G>T (p.Gly91Val)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149978252G>ACA447402147SLC26A2n.832G>A
c.600G>A (p.Gly200=)
c.273G>A (p.Gly91=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.149978252G>CCA447402148SLC26A2n.832G>C
c.600G>C (p.Gly200=)
c.273G>C (p.Gly91=)
5g.149978252G=CA1590737474SLC26A2n.832G=
c.600G= (p.Gly200=)
c.273G= (p.Gly91=)
5g.149978252G>TCA447402149SLC26A2n.832G>T
c.600G>T (p.Gly200=)
c.273G>T (p.Gly91=)
5g.149978253A=CA1590737475SLC26A2n.833A=
c.601A= (p.Ser201=)
c.274A= (p.Ser92=)
5g.149978253A>CCA361705331SLC26A2n.833A>C
c.601A>C (p.Ser201Arg)
c.274A>C (p.Ser92Arg)
5g.149978253A>GCA361705332SLC26A2n.833A>G
c.601A>G (p.Ser201Gly)
c.274A>G (p.Ser92Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149978253A>TCA361705333SLC26A2n.833A>T
c.601A>T (p.Ser201Cys)
c.274A>T (p.Ser92Cys)
5g.149978254G>ACA361705336SLC26A2n.834G>A
c.602G>A (p.Ser201Asn)
c.275G>A (p.Ser92Asn)
5g.149978254G>CCA361705334SLC26A2n.834G>C
c.602G>C (p.Ser201Thr)
c.275G>C (p.Ser92Thr)
5g.149978254G>TCA361705335SLC26A2n.834G>T
c.602G>T (p.Ser201Ile)
c.275G>T (p.Ser92Ile)
5g.149978255C>ACA361705337SLC26A2n.835C>A
c.603C>A (p.Ser201Arg)
c.276C>A (p.Ser92Arg)
5g.149978255C>GCA361705338SLC26A2n.835C>G
c.603C>G (p.Ser201Arg)
c.276C>G (p.Ser92Arg)
5g.149978255C>TCA447402153SLC26A2n.835C>T
c.603C>T (p.Ser201=)
c.276C>T (p.Ser92=)
5g.149978256A>CCA361705339SLC26A2n.836A>C
c.604A>C (p.Thr202Pro)
c.277A>C (p.Thr93Pro)
5g.149978256A>GCA361705340SLC26A2n.836A>G
c.604A>G (p.Thr202Ala)
c.277A>G (p.Thr93Ala)
5g.149978256A>TCA361705341SLC26A2n.836A>T
c.604A>T (p.Thr202Ser)
c.277A>T (p.Thr93Ser)
5g.149978257C>ACA361705342SLC26A2n.837C>A
c.605C>A (p.Thr202Lys)
c.278C>A (p.Thr93Lys)
5g.149978257C>GCA361705343SLC26A2n.837C>G
c.605C>G (p.Thr202Arg)
c.278C>G (p.Thr93Arg)
5g.149978257C>TCA361705344SLC26A2n.837C>T
c.605C>T (p.Thr202Ile)
c.278C>T (p.Thr93Ile)
dbSNP
5g.149978258A=CA1590737476SLC26A2n.838A=
c.606A= (p.Thr202=)
c.279A= (p.Thr93=)
5g.149978258A>CCA447402158SLC26A2n.838A>C
c.606A>C (p.Thr202=)
c.279A>C (p.Thr93=)
5g.149978258A>GCA447402160SLC26A2n.838A>G
c.606A>G (p.Thr202=)
c.279A>G (p.Thr93=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149978258A>TCA447402162SLC26A2n.838A>T
c.606A>T (p.Thr202=)
c.279A>T (p.Thr93=)
5g.149978259T>ACA361705345SLC26A2n.839T>A
c.607T>A (p.Leu203Ile)
c.280T>A (p.Leu94Ile)
5g.149978259T>CCA447402163SLC26A2n.839T>C
c.607T>C (p.Leu203=)
c.280T>C (p.Leu94=)
5g.149978259T>GCA361705346SLC26A2n.839T>G
c.607T>G (p.Leu203Val)
c.280T>G (p.Leu94Val)
5g.149978260T>ACA361705348SLC26A2n.840T>A
c.608T>A (p.Leu203Ter)
c.281T>A (p.Leu94Ter)
5g.149978260T>CCA361705349SLC26A2n.840T>C
c.608T>C (p.Leu203Ser)
c.281T>C (p.Leu94Ser)
gnomAD v4
5g.149978260T>GCA361705347SLC26A2n.840T>G
c.608T>G (p.Leu203Ter)
c.281T>G (p.Leu94Ter)
5g.149978261A>CCA361705350SLC26A2n.841A>C
c.609A>C (p.Leu203Phe)
c.282A>C (p.Leu94Phe)
5g.149978261A>GCA447402167SLC26A2n.841A>G
c.609A>G (p.Leu203=)
c.282A>G (p.Leu94=)
5g.149978261A>TCA361705351SLC26A2n.841A>T
c.609A>T (p.Leu203Phe)
c.282A>T (p.Leu94Phe)
5g.149978262T>ACA361705352SLC26A2n.842T>A
c.610T>A (p.Leu204Ile)
c.283T>A (p.Leu95Ile)
5g.149978262T>CCA447402168SLC26A2n.842T>C
c.610T>C (p.Leu204=)
c.283T>C (p.Leu95=)
5g.149978262T>GCA361705353SLC26A2n.842T>G
c.610T>G (p.Leu204Val)
c.283T>G (p.Leu95Val)
ClinVar
5g.149978263T>ACA361705354SLC26A2n.843T>A
c.611T>A (p.Leu204Ter)
c.284T>A (p.Leu95Ter)
5g.149978263T>CCA361705355SLC26A2n.843T>C
c.611T>C (p.Leu204Ser)
c.284T>C (p.Leu95Ser)
5g.149978263T>GCA361705356SLC26A2n.843T>G
c.611T>G (p.Leu204Ter)
c.284T>G (p.Leu95Ter)
ClinVar dbSNP
5g.149978263T=CA1590737477SLC26A2n.843T=
c.611T= (p.Leu204=)
c.284T= (p.Leu95=)
5g.149978264A>CCA361705357SLC26A2n.844A>C
c.612A>C (p.Leu204Phe)
c.285A>C (p.Leu95Phe)
5g.149978264A>GCA447402170SLC26A2n.844A>G
c.612A>G (p.Leu204=)
c.285A>G (p.Leu95=)
5g.149978264A>TCA361705358SLC26A2n.844A>T
c.612A>T (p.Leu204Phe)
c.285A>T (p.Leu95Phe)
5g.149978266delCA2675943469SLC26A2n.846del
c.614del (p.Asn205IlefsTer21)
c.287del (p.Asn96IlefsTer21)
gnomAD v4
5g.149978265_149978269delCA2675943470SLC26A2n.845_849del
c.613_617del (p.Asn205TyrfsTer7)
c.286_290del (p.Asn96TyrfsTer7)
ClinVar gnomAD v4
5g.149978265A>CCA361705359SLC26A2n.845A>C
c.613A>C (p.Asn205His)
c.286A>C (p.Asn96His)
5g.149978265A>GCA361705360SLC26A2n.845A>G
c.613A>G (p.Asn205Asp)
c.286A>G (p.Asn96Asp)
5g.149978265A>TCA361705361SLC26A2n.845A>T
c.613A>T (p.Asn205Tyr)
c.286A>T (p.Asn96Tyr)
5g.149978266A>CCA361705364SLC26A2n.846A>C
c.614A>C (p.Asn205Thr)
c.287A>C (p.Asn96Thr)
5g.149978266A>GCA361705362SLC26A2n.846A>G
c.614A>G (p.Asn205Ser)
c.287A>G (p.Asn96Ser)
5g.149978266A>TCA361705363SLC26A2n.846A>T
c.614A>T (p.Asn205Ile)
c.287A>T (p.Asn96Ile)
5g.149978267T>ACA361705365SLC26A2n.847T>A
c.615T>A (p.Asn205Lys)
c.288T>A (p.Asn96Lys)
5g.149978267T>CCA447402176SLC26A2n.847T>C
c.615T>C (p.Asn205=)
c.288T>C (p.Asn96=)
5g.149978267T>GCA361705366SLC26A2n.847T>G
c.615T>G (p.Asn205Lys)
c.288T>G (p.Asn96Lys)
5g.149978268C>ACA361705367SLC26A2n.848C>A
c.616C>A (p.His206Asn)
c.289C>A (p.His97Asn)
5g.149978268C>GCA361705368SLC26A2n.848C>G
c.616C>G (p.His206Asp)
c.289C>G (p.His97Asp)
5g.149978268C>TCA361705369SLC26A2n.848C>T
c.616C>T (p.His206Tyr)
c.289C>T (p.His97Tyr)
5g.149978269A=CA1590737478SLC26A2n.849A=
c.617A= (p.His206=)
c.290A= (p.His97=)
5g.149978269A>CCA361705370SLC26A2n.849A>C
c.617A>C (p.His206Pro)
c.290A>C (p.His97Pro)
5g.149978269A>GCA3505282SLC26A2n.849A>G
c.617A>G (p.His206Arg)
c.290A>G (p.His97Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978269A>TCA361705371SLC26A2n.849A>T
c.617A>T (p.His206Leu)
c.290A>T (p.His97Leu)
gnomAD v4
5g.149978270T>ACA361705372SLC26A2n.850T>A
c.618T>A (p.His206Gln)
c.291T>A (p.His97Gln)
5g.149978270T>CCA447402182SLC26A2n.850T>C
c.618T>C (p.His206=)
c.291T>C (p.His97=)
5g.149978270T>GCA3505283SLC26A2n.850T>G
c.618T>G (p.His206Gln)
c.291T>G (p.His97Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149978270T=CA1590737479SLC26A2n.850T=
c.618T= (p.His206=)
c.291T= (p.His97=)
5g.149978271A>CCA361705373SLC26A2n.851A>C
c.619A>C (p.Thr207Pro)
c.292A>C (p.Thr98Pro)
5g.149978271A>GCA361705374SLC26A2n.851A>G
c.619A>G (p.Thr207Ala)
c.292A>G (p.Thr98Ala)
5g.149978271A>TCA361705375SLC26A2n.851A>T
c.619A>T (p.Thr207Ser)
c.292A>T (p.Thr98Ser)
5g.149978272C>ACA361705378SLC26A2n.852C>A
c.620C>A (p.Thr207Lys)
c.293C>A (p.Thr98Lys)
5g.149978272C>GCA361705377SLC26A2n.852C>G
c.620C>G (p.Thr207Arg)
c.293C>G (p.Thr98Arg)
5g.149978272C>TCA361705376SLC26A2n.852C>T
c.620C>T (p.Thr207Ile)
c.293C>T (p.Thr98Ile)
5g.149978273A>CCA447402189SLC26A2n.853A>C
c.621A>C (p.Thr207=)
c.294A>C (p.Thr98=)
5g.149978273A>GCA447402192SLC26A2n.853A>G
c.621A>G (p.Thr207=)
c.294A>G (p.Thr98=)
5g.149978273A>TCA447402194SLC26A2n.853A>T
c.621A>T (p.Thr207=)
c.294A>T (p.Thr98=)
5g.149978274T>ACA361705380SLC26A2n.854T>A
c.622T>A (p.Ser208Thr)
c.295T>A (p.Ser99Thr)
5g.149978274T>CCA361705379SLC26A2n.854T>C
c.622T>C (p.Ser208Pro)
c.295T>C (p.Ser99Pro)
dbSNP gnomAD v2 gnomAD v4
5g.149978274T>GCA361705381SLC26A2n.854T>G
c.622T>G (p.Ser208Ala)
c.295T>G (p.Ser99Ala)
5g.149978274T=CA1590737480SLC26A2n.854T=
c.622T= (p.Ser208=)
c.295T= (p.Ser99=)
5g.149978275C>ACA361705382SLC26A2n.855C>A
c.623C>A (p.Ser208Ter)
c.296C>A (p.Ser99Ter)
5g.149978275C>GCA361705383SLC26A2n.855C>G
c.623C>G (p.Ser208Ter)
c.296C>G (p.Ser99Ter)
5g.149978275C>TCA361705384SLC26A2n.855C>T
c.623C>T (p.Ser208Leu)
c.296C>T (p.Ser99Leu)
dbSNP gnomAD v4 COSMIC
5g.149978276A>CCA447402201SLC26A2n.856A>C
c.624A>C (p.Ser208=)
c.297A>C (p.Ser99=)
5g.149978276A>GCA447402206SLC26A2n.856A>G
c.624A>G (p.Ser208=)
c.297A>G (p.Ser99=)
5g.149978276A>TCA447402207SLC26A2n.856A>T
c.624A>T (p.Ser208=)
c.297A>T (p.Ser99=)
5g.149978277G>ACA361705385SLC26A2n.857G>A
c.625G>A (p.Asp209Asn)
c.298G>A (p.Asp100Asn)
5g.149978277G>CCA361705386SLC26A2n.857G>C
c.625G>C (p.Asp209His)
c.298G>C (p.Asp100His)
5g.149978277G>TCA361705387SLC26A2n.857G>T
c.625G>T (p.Asp209Tyr)
c.298G>T (p.Asp100Tyr)
5g.149978278A>CCA361705388SLC26A2n.858A>C
c.626A>C (p.Asp209Ala)
c.299A>C (p.Asp100Ala)
5g.149978278A>GCA361705389SLC26A2n.858A>G
c.626A>G (p.Asp209Gly)
c.299A>G (p.Asp100Gly)
gnomAD v4
5g.149978278A>TCA361705390SLC26A2n.858A>T
c.626A>T (p.Asp209Val)
c.299A>T (p.Asp100Val)
5g.149978279C>ACA3505284SLC26A2n.859C>A
c.627C>A (p.Asp209Glu)
c.300C>A (p.Asp100Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978279C=CA1590737481SLC26A2n.859C=
c.627C= (p.Asp209=)
c.300C= (p.Asp100=)
5g.149978279C>GCA361705391SLC26A2n.859C>G
c.627C>G (p.Asp209Glu)
c.300C>G (p.Asp100Glu)
5g.149978279C>TCA447402213SLC26A2n.859C>T
c.627C>T (p.Asp209=)
c.300C>T (p.Asp100=)
ClinVar gnomAD v4
5g.149978280A=CA1590737482SLC26A2n.860A=
c.628A= (p.Arg210=)
c.301A= (p.Arg101=)
5g.149978280A>CCA447402214SLC26A2n.860A>C
c.628A>C (p.Arg210=)
c.301A>C (p.Arg101=)
5g.149978280A>GCA361705392SLC26A2n.860A>G
c.628A>G (p.Arg210Gly)
c.301A>G (p.Arg101Gly)
5g.149978280A>TCA361705393SLC26A2n.860A>T
c.628A>T (p.Arg210Trp)
c.301A>T (p.Arg101Trp)
5g.149978280_149978281insCTGTTCA563955679SLC26A2n.860_861insCTGTT
c.628_629insCTGTT (p.Arg210ThrfsTer18)
c.301_302insCTGTT (p.Arg101ThrfsTer18)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149978281G>ACA361705394SLC26A2n.861G>A
c.629G>A (p.Arg210Lys)
c.302G>A (p.Arg101Lys)
gnomAD v4
5g.149978281G>CCA361705396SLC26A2n.861G>C
c.629G>C (p.Arg210Thr)
c.302G>C (p.Arg101Thr)
5g.149978281G>TCA361705395SLC26A2n.861G>T
c.629G>T (p.Arg210Met)
c.302G>T (p.Arg101Met)
5g.149978282G>ACA129082727SLC26A2n.862G>A
c.630G>A (p.Arg210=)
c.303G>A (p.Arg101=)
ClinVar dbSNP gnomAD v4
5g.149978282G>CCA361705397SLC26A2n.862G>C
c.630G>C (p.Arg210Ser)
c.303G>C (p.Arg101Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149978282G=CA1590737483SLC26A2n.862G=
c.630G= (p.Arg210=)
c.303G= (p.Arg101=)
5g.149978282G>TCA361705398SLC26A2n.862G>T
c.630G>T (p.Arg210Ser)
c.303G>T (p.Arg101Ser)
5g.149978283A=CA1590737484SLC26A2n.863A=
c.631A= (p.Ile211=)
c.304A= (p.Ile102=)
5g.149978283A>CCA361705399SLC26A2n.863A>C
c.631A>C (p.Ile211Leu)
c.304A>C (p.Ile102Leu)
5g.149978283A>GCA3505285SLC26A2n.863A>G
c.631A>G (p.Ile211Val)
c.304A>G (p.Ile102Val)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149978283A>TCA129082731SLC26A2n.863A>T
c.631A>T (p.Ile211Leu)
c.304A>T (p.Ile102Leu)
dbSNP gnomAD v4
5g.149978284T>ACA361705400SLC26A2n.864T>A
c.632T>A (p.Ile211Lys)
c.305T>A (p.Ile102Lys)
5g.149978284T>CCA361705401SLC26A2n.864T>C
c.632T>C (p.Ile211Thr)
c.305T>C (p.Ile102Thr)
5g.149978284T>GCA361705402SLC26A2n.864T>G
c.632T>G (p.Ile211Arg)
c.305T>G (p.Ile102Arg)
5g.149978285A=CA1590737485SLC26A2n.865A=
c.633A= (p.Ile211=)
c.306A= (p.Ile102=)
5g.149978285A>CCA447402228SLC26A2n.865A>C
c.633A>C (p.Ile211=)
c.306A>C (p.Ile102=)
5g.149978285A>GCA361705403SLC26A2n.865A>G
c.633A>G (p.Ile211Met)
c.306A>G (p.Ile102Met)
5g.149978285A>TCA447402230SLC26A2n.865A>T
c.633A>T (p.Ile211=)
c.306A>T (p.Ile102=)
5g.149978285_149978286insGCAACCA563955680SLC26A2n.865_866insGCAAC
c.633_634insGCAAC (p.Cys212AlafsTer16)
c.306_307insGCAAC (p.Cys103AlafsTer16)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149978286T>ACA361705405SLC26A2n.866T>A
c.634T>A (p.Cys212Ser)
c.307T>A (p.Cys103Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149978286T>CCA361705406SLC26A2n.866T>C
c.634T>C (p.Cys212Arg)
c.307T>C (p.Cys103Arg)
dbSNP gnomAD v3 gnomAD v4
5g.149978286T>GCA361705404SLC26A2n.866T>G
c.634T>G (p.Cys212Gly)
c.307T>G (p.Cys103Gly)
5g.149978286T=CA1590737486SLC26A2n.866T=
c.634T= (p.Cys212=)
c.307T= (p.Cys103=)
5g.149978287G>ACA361705407SLC26A2n.867G>A
c.635G>A (p.Cys212Tyr)
c.308G>A (p.Cys103Tyr)
5g.149978287G>CCA361705408SLC26A2n.867G>C
c.635G>C (p.Cys212Ser)
c.308G>C (p.Cys103Ser)
5g.149978287G=CA1590737487SLC26A2n.867G=
c.635G= (p.Cys212=)
c.308G= (p.Cys103=)
5g.149978287G>TCA129082733SLC26A2n.867G>T
c.635G>T (p.Cys212Phe)
c.308G>T (p.Cys103Phe)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149978288T>ACA361705409SLC26A2n.868T>A
c.636T>A (p.Cys212Ter)
c.309T>A (p.Cys103Ter)
5g.149978288T>CCA447402532SLC26A2n.868T>C
c.636T>C (p.Cys212=)
c.309T>C (p.Cys103=)
ClinVar dbSNP
5g.149978288T>GCA361705410SLC26A2n.868T>G
c.636T>G (p.Cys212Trp)
c.309T>G (p.Cys103Trp)
5g.149978289G>ACA361705411SLC26A2n.869G>A
c.637G>A (p.Asp213Asn)
c.310G>A (p.Asp104Asn)
5g.149978289G>CCA361705412SLC26A2n.869G>C
c.637G>C (p.Asp213His)
c.310G>C (p.Asp104His)
5g.149978289G>TCA361705413SLC26A2n.869G>T
c.637G>T (p.Asp213Tyr)
c.310G>T (p.Asp104Tyr)
5g.149978290delCA2831039670SLC26A2n.870del
c.638del (p.Asp213AlafsTer13)
c.311del (p.Asp104AlafsTer13)
5g.149978290A>CCA361705414SLC26A2n.870A>C
c.638A>C (p.Asp213Ala)
c.311A>C (p.Asp104Ala)
5g.149978290A>GCA361705415SLC26A2n.870A>G
c.638A>G (p.Asp213Gly)
c.311A>G (p.Asp104Gly)
5g.149978290A>TCA361705416SLC26A2n.870A>T
c.638A>T (p.Asp213Val)
c.311A>T (p.Asp104Val)
5g.149978291_149978293delCA913108445SLC26A2n.871_873del
c.639_641del (p.Asp213_Lys214delinsGlu)
c.312_314del (p.Asp104_Lys105delinsGlu)
5g.149978291C>ACA361705417SLC26A2n.871C>A
c.639C>A (p.Asp213Glu)
c.312C>A (p.Asp104Glu)
5g.149978291C>GCA361705418SLC26A2n.871C>G
c.639C>G (p.Asp213Glu)
c.312C>G (p.Asp104Glu)
5g.149978291C>TCA447402537SLC26A2n.871C>T
c.639C>T (p.Asp213=)
c.312C>T (p.Asp104=)
5g.149978291_149978293delinsCAACA1590737488SLC26A2n.871_873delinsCAA
c.639_641delinsCAA (p.Asp213=)
c.312_314delinsCAA (p.Asp104=)
5g.149978292A=CA1590737489SLC26A2n.872A=
c.640A= (p.Lys214=)
c.313A= (p.Lys105=)
5g.149978292A>CCA361705420SLC26A2n.872A>C
c.640A>C (p.Lys214Gln)
c.313A>C (p.Lys105Gln)
5g.149978292A>GCA3505286SLC26A2n.872A>G
c.640A>G (p.Lys214Glu)
c.313A>G (p.Lys105Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149978292A>TCA361705419SLC26A2n.872A>T
c.640A>T (p.Lys214Ter)
c.313A>T (p.Lys105Ter)
5g.149978294_149978295delCA658822215SLC26A2n.874_875del
c.642_643del (p.Ser215LeufsTer?)
c.315_316del (p.Ser106LeufsTer?)
ClinVar dbSNP
5g.149978293A=CA1590737490SLC26A2n.873A=
c.641A= (p.Lys214=)
c.314A= (p.Lys105=)
5g.149978293A>CCA361705421SLC26A2n.873A>C
c.641A>C (p.Lys214Thr)
c.314A>C (p.Lys105Thr)
5g.149978293A>GCA361705422SLC26A2n.873A>G
c.641A>G (p.Lys214Arg)
c.314A>G (p.Lys105Arg)
dbSNP
5g.149978293A>TCA361705423SLC26A2n.873A>T
c.641A>T (p.Lys214Ile)
c.314A>T (p.Lys105Ile)
5g.149978294A>CCA361705424SLC26A2n.874A>C
c.642A>C (p.Lys214Asn)
c.315A>C (p.Lys105Asn)
5g.149978294A>GCA447402544SLC26A2n.874A>G
c.642A>G (p.Lys214=)
c.315A>G (p.Lys105=)
5g.149978294A>TCA361705425SLC26A2n.874A>T
c.642A>T (p.Lys214Asn)
c.315A>T (p.Lys105Asn)
5g.149978295A>CCA361705426SLC26A2n.875A>C
c.643A>C (p.Ser215Arg)
c.316A>C (p.Ser106Arg)
5g.149978295A>GCA361705427SLC26A2n.875A>G
c.643A>G (p.Ser215Gly)
c.316A>G (p.Ser106Gly)
5g.149978295A>TCA361705428SLC26A2n.875A>T
c.643A>T (p.Ser215Cys)
c.316A>T (p.Ser106Cys)
5g.149978296G>ACA361705429SLC26A2n.876G>A
c.644G>A (p.Ser215Asn)
c.317G>A (p.Ser106Asn)
5g.149978296G>CCA361705430SLC26A2n.876G>C
c.644G>C (p.Ser215Thr)
c.317G>C (p.Ser106Thr)
5g.149978296G>TCA361705431SLC26A2n.876G>T
c.644G>T (p.Ser215Ile)
c.317G>T (p.Ser106Ile)
5g.149978297T>ACA361705432SLC26A2n.877T>A
c.645T>A (p.Ser215Arg)
c.318T>A (p.Ser106Arg)
5g.149978297T>CCA447402548SLC26A2n.877T>C
c.645T>C (p.Ser215=)
c.318T>C (p.Ser106=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149978297T>GCA361705433SLC26A2n.877T>G
c.645T>G (p.Ser215Arg)
c.318T>G (p.Ser106Arg)
5g.149978297T=CA1590737491SLC26A2n.877T=
c.645T= (p.Ser215=)
c.318T= (p.Ser106=)
5g.149978298T>ACA361705435SLC26A2n.878T>A
c.646T>A (p.Cys216Ser)
c.319T>A (p.Cys107Ser)
5g.149978298T>CCA361705436SLC26A2n.878T>C
c.646T>C (p.Cys216Arg)
c.319T>C (p.Cys107Arg)
5g.149978298T>GCA361705434SLC26A2n.878T>G
c.646T>G (p.Cys216Gly)
c.319T>G (p.Cys107Gly)
5g.149978299G>ACA361705437SLC26A2n.879G>A
c.647G>A (p.Cys216Tyr)
c.320G>A (p.Cys107Tyr)
gnomAD v4
5g.149978299G>CCA361705439SLC26A2n.879G>C
c.647G>C (p.Cys216Ser)
c.320G>C (p.Cys107Ser)
5g.149978299G>TCA361705438SLC26A2n.879G>T
c.647G>T (p.Cys216Phe)
c.320G>T (p.Cys107Phe)
5g.149978300C>ACA361705440SLC26A2n.880C>A
c.648C>A (p.Cys216Ter)
c.321C>A (p.Cys107Ter)
5g.149978300C>GCA361705441SLC26A2n.880C>G
c.648C>G (p.Cys216Trp)
c.321C>G (p.Cys107Trp)
5g.149978300C>TCA447402556SLC26A2n.880C>T
c.648C>T (p.Cys216=)
c.321C>T (p.Cys107=)
5g.149978301T>ACA361705442SLC26A2n.881T>A
c.649T>A (p.Tyr217Asn)
c.322T>A (p.Tyr108Asn)
gnomAD v4
5g.149978301T>CCA361705444SLC26A2n.881T>C
c.649T>C (p.Tyr217His)
c.322T>C (p.Tyr108His)
5g.149978301T>GCA361705443SLC26A2n.881T>G
c.649T>G (p.Tyr217Asp)
c.322T>G (p.Tyr108Asp)
5g.149978302A=CA1590737492SLC26A2n.882A=
c.650A= (p.Tyr217=)
c.323A= (p.Tyr108=)
5g.149978302A>CCA361705445SLC26A2n.882A>C
c.650A>C (p.Tyr217Ser)
c.323A>C (p.Tyr108Ser)
5g.149978302A>GCA3505287SLC26A2n.882A>G
c.650A>G (p.Tyr217Cys)
c.323A>G (p.Tyr108Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978302A>TCA361705446SLC26A2n.882A>T
c.650A>T (p.Tyr217Phe)
c.323A>T (p.Tyr108Phe)
gnomAD v4
5g.149978303T>ACA361705447SLC26A2n.883T>A
c.651T>A (p.Tyr217Ter)
c.324T>A (p.Tyr108Ter)
5g.149978303T>CCA447402562SLC26A2n.883T>C
c.651T>C (p.Tyr217=)
c.324T>C (p.Tyr108=)
ClinVar gnomAD v4
5g.149978303T>GCA361705448SLC26A2n.883T>G
c.651T>G (p.Tyr217Ter)
c.324T>G (p.Tyr108Ter)
5g.149978304G>ACA361705449SLC26A2n.884G>A
c.652G>A (p.Ala218Thr)
c.325G>A (p.Ala109Thr)
gnomAD v4
5g.149978304G>CCA361705450SLC26A2n.884G>C
c.652G>C (p.Ala218Pro)
c.325G>C (p.Ala109Pro)
5g.149978304G>TCA361705451SLC26A2n.884G>T
c.652G>T (p.Ala218Ser)
c.325G>T (p.Ala109Ser)
5g.149978305C>ACA361705452SLC26A2n.885C>A
c.653C>A (p.Ala218Glu)
c.326C>A (p.Ala109Glu)
5g.149978305C>GCA361705453SLC26A2n.885C>G
c.653C>G (p.Ala218Gly)
c.326C>G (p.Ala109Gly)
gnomAD v4
5g.149978305C>TCA361705454SLC26A2n.885C>T
c.653C>T (p.Ala218Val)
c.326C>T (p.Ala109Val)
5g.149978306A>CCA447402567SLC26A2n.886A>C
c.654A>C (p.Ala218=)
c.327A>C (p.Ala109=)
5g.149978306A>GCA447402569SLC26A2n.886A>G
c.654A>G (p.Ala218=)
c.327A>G (p.Ala109=)
5g.149978306A>TCA447402570SLC26A2n.886A>T
c.654A>T (p.Ala218=)
c.327A>T (p.Ala109=)
5g.149978307A=CA1590737493SLC26A2n.887A=
c.655A= (p.Ile219=)
c.328A= (p.Ile110=)
5g.149978307A>CCA361705456SLC26A2n.887A>C
c.655A>C (p.Ile219Leu)
c.328A>C (p.Ile110Leu)
5g.149978307A>GCA3505288SLC26A2n.887A>G
c.655A>G (p.Ile219Val)
c.328A>G (p.Ile110Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978307A>TCA361705455SLC26A2n.887A>T
c.655A>T (p.Ile219Phe)
c.328A>T (p.Ile110Phe)
5g.149978308T>ACA361705457SLC26A2n.888T>A
c.656T>A (p.Ile219Asn)
c.329T>A (p.Ile110Asn)
5g.149978308T>CCA361705458SLC26A2n.888T>C
c.656T>C (p.Ile219Thr)
c.329T>C (p.Ile110Thr)
5g.149978308T>GCA361705459SLC26A2n.888T>G
c.656T>G (p.Ile219Ser)
c.329T>G (p.Ile110Ser)
5g.149978309T>ACA447402573SLC26A2n.889T>A
c.657T>A (p.Ile219=)
c.330T>A (p.Ile110=)
5g.149978309T>CCA447402575SLC26A2n.889T>C
c.657T>C (p.Ile219=)
c.330T>C (p.Ile110=)
COSMIC
5g.149978309T>GCA361705460SLC26A2n.889T>G
c.657T>G (p.Ile219Met)
c.330T>G (p.Ile110Met)
5g.149978309_149978312dupCA2675943471SLC26A2n.889_892dup
c.657_660dup (p.Val221TyrfsTer?)
c.330_333dup (p.Val112TyrfsTer27)
gnomAD v4
5g.149978310A=CA1590737494SLC26A2n.890A=
c.658A= (p.Met220=)
c.331A= (p.Met111=)
5g.149978310A>CCA361705461SLC26A2n.890A>C
c.658A>C (p.Met220Leu)
c.331A>C (p.Met111Leu)
5g.149978310A>GCA129082739SLC26A2n.890A>G
c.658A>G (p.Met220Val)
c.331A>G (p.Met111Val)
dbSNP gnomAD v3 gnomAD v4
5g.149978310A>TCA361705462SLC26A2n.890A>T
c.658A>T (p.Met220Leu)
c.331A>T (p.Met111Leu)
5g.149978311T>ACA361705463SLC26A2n.891T>A
c.659T>A (p.Met220Lys)
c.332T>A (p.Met111Lys)
5g.149978311T>CCA361705464SLC26A2n.891T>C
c.659T>C (p.Met220Thr)
c.332T>C (p.Met111Thr)
5g.149978311T>GCA361705465SLC26A2n.891T>G
c.659T>G (p.Met220Arg)
c.332T>G (p.Met111Arg)
5g.149978312G>ACA361705468SLC26A2n.892G>A
c.660G>A (p.Met220Ile)
c.333G>A (p.Met111Ile)
5g.149978312G>CCA361705467SLC26A2n.892G>C
c.660G>C (p.Met220Ile)
c.333G>C (p.Met111Ile)
5g.149978312G>TCA361705466SLC26A2n.892G>T
c.660G>T (p.Met220Ile)
c.333G>T (p.Met111Ile)
5g.149978313G>ACA129082741SLC26A2n.893G>A
c.661G>A (p.Val221Ile)
c.334G>A (p.Val112Ile)
dbSNP gnomAD v3 gnomAD v4
5g.149978313G>CCA361705469SLC26A2n.893G>C
c.661G>C (p.Val221Leu)
c.334G>C (p.Val112Leu)
5g.149978313G=CA1590737495SLC26A2n.893G=
c.661G= (p.Val221=)
c.334G= (p.Val112=)
5g.149978313G>TCA361705470SLC26A2n.893G>T
c.661G>T (p.Val221Phe)
c.334G>T (p.Val112Phe)
dbSNP gnomAD v3 gnomAD v4
5g.149978314T>ACA361705471SLC26A2n.894T>A
c.662T>A (p.Val221Asp)
c.335T>A (p.Val112Asp)
5g.149978314T>CCA361705472SLC26A2n.894T>C
c.662T>C (p.Val221Ala)
c.335T>C (p.Val112Ala)
5g.149978314T>GCA361705473SLC26A2n.894T>G
c.662T>G (p.Val221Gly)
c.335T>G (p.Val112Gly)
5g.149978315T>ACA447402582SLC26A2n.895T>A
c.663T>A (p.Val221=)
c.336T>A (p.Val112=)
5g.149978315T>CCA447402584SLC26A2n.895T>C
c.663T>C (p.Val221=)
c.336T>C (p.Val112=)
5g.149978315T>GCA447402585SLC26A2n.895T>G
c.663T>G (p.Val221=)
c.336T>G (p.Val112=)
5g.149978316G>ACA361705474SLC26A2n.896G>A
c.664G>A (p.Gly222Ser)
c.337G>A (p.Gly113Ser)
5g.149978316G>CCA361705475SLC26A2n.896G>C
c.664G>C (p.Gly222Arg)
c.337G>C (p.Gly113Arg)
5g.149978316G>TCA361705476SLC26A2n.896G>T
c.664G>T (p.Gly222Cys)
c.337G>T (p.Gly113Cys)
5g.149978317G>ACA361705477SLC26A2n.897G>A
c.665G>A (p.Gly222Asp)
c.338G>A (p.Gly113Asp)
5g.149978317G>CCA361705478SLC26A2n.897G>C
c.665G>C (p.Gly222Ala)
c.338G>C (p.Gly113Ala)
5g.149978317G>TCA361705479SLC26A2n.897G>T
c.665G>T (p.Gly222Val)
c.338G>T (p.Gly113Val)
5g.149978318C>ACA447402588SLC26A2n.898C>A
c.666C>A (p.Gly222=)
c.339C>A (p.Gly113=)
5g.149978318C>GCA447402589SLC26A2n.898C>G
c.666C>G (p.Gly222=)
c.339C>G (p.Gly113=)
5g.149978318C>TCA447402590SLC26A2n.898C>T
c.666C>T (p.Gly222=)
c.339C>T (p.Gly113=)
5g.149978319A>CCA361705482SLC26A2n.899A>C
c.667A>C (p.Ser223Arg)
c.340A>C (p.Ser114Arg)
COSMIC
5g.149978319A>GCA361705480SLC26A2n.899A>G
c.667A>G (p.Ser223Gly)
c.340A>G (p.Ser114Gly)
5g.149978319A>TCA361705481SLC26A2n.899A>T
c.667A>T (p.Ser223Cys)
c.340A>T (p.Ser114Cys)
5g.149978320G>ACA3505289SLC26A2n.900G>A
c.668G>A (p.Ser223Asn)
c.341G>A (p.Ser114Asn)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.149978320G>CCA361705483SLC26A2n.900G>C
c.668G>C (p.Ser223Thr)
c.341G>C (p.Ser114Thr)
5g.149978320G=CA1590737496SLC26A2n.900G=
c.668G= (p.Ser223=)
c.341G= (p.Ser114=)
5g.149978320G>TCA361705484SLC26A2n.900G>T
c.668G>T (p.Ser223Ile)
c.341G>T (p.Ser114Ile)
5g.149978321C>ACA361705485SLC26A2n.901C>A
c.669C>A (p.Ser223Arg)
c.342C>A (p.Ser114Arg)
5g.149978321C=CA1590737497SLC26A2n.901C=
c.669C= (p.Ser223=)
c.342C= (p.Ser114=)
5g.149978321C>GCA361705486SLC26A2n.901C>G
c.669C>G (p.Ser223Arg)
c.342C>G (p.Ser114Arg)
dbSNP gnomAD v2 gnomAD v4
5g.149978321C>TCA447402595SLC26A2n.901C>T
c.669C>T (p.Ser223=)
c.342C>T (p.Ser114=)
5g.149978322A>CCA361705487SLC26A2n.902A>C
c.670A>C (p.Thr224Pro)
c.343A>C (p.Thr115Pro)
5g.149978322A>GCA361705488SLC26A2n.902A>G
c.670A>G (p.Thr224Ala)
c.343A>G (p.Thr115Ala)
5g.149978322A>TCA361705489SLC26A2n.902A>T
c.670A>T (p.Thr224Ser)
c.343A>T (p.Thr115Ser)
5g.149978323C>ACA361705490SLC26A2n.903C>A
c.671C>A (p.Thr224Asn)
c.344C>A (p.Thr115Asn)
5g.149978323C>GCA361705491SLC26A2n.903C>G
c.671C>G (p.Thr224Ser)
c.344C>G (p.Thr115Ser)
5g.149978323C>TCA361705492SLC26A2n.903C>T
c.671C>T (p.Thr224Ile)
c.344C>T (p.Thr115Ile)
5g.149978324T>ACA447402599SLC26A2n.904T>A
c.672T>A (p.Thr224=)
c.345T>A (p.Thr115=)
5g.149978324T>CCA447402600SLC26A2n.904T>C
c.672T>C (p.Thr224=)
c.345T>C (p.Thr115=)
ClinVar dbSNP
5g.149978324T>GCA447402601SLC26A2n.904T>G
c.672T>G (p.Thr224=)
c.345T>G (p.Thr115=)
5g.149978324T=CA1590737498SLC26A2n.904T=
c.672T= (p.Thr224=)
c.345T= (p.Thr115=)

Number of alleles fetched