Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.149978132C>ACA447402016SLC26A2n.712C>A
c.480C>A (p.Ile160=)
c.153C>A (p.Ile51=)
 ClinVar
5g.149978132C>GCA361705080SLC26A2n.712C>G
c.480C>G (p.Ile160Met)
c.153C>G (p.Ile51Met)
5g.149978132C>TCA447402017SLC26A2n.712C>T
c.480C>T (p.Ile160=)
c.153C>T (p.Ile51=)
5g.149978133T>ACA361705081SLC26A2n.713T>A
c.481T>A (p.Ser161Thr)
c.154T>A (p.Ser52Thr)
5g.149978133T>CCA361705082SLC26A2n.713T>C
c.481T>C (p.Ser161Pro)
c.154T>C (p.Ser52Pro)
 dbSNP gnomAD v4
5g.149978133T>GCA361705083SLC26A2n.713T>G
c.481T>G (p.Ser161Ala)
c.154T>G (p.Ser52Ala)
5g.149978134C>ACA361705085SLC26A2n.714C>A
c.482C>A (p.Ser161Tyr)
c.155C>A (p.Ser52Tyr)
5g.149978134C>GCA361705086SLC26A2n.714C>G
c.482C>G (p.Ser161Cys)
c.155C>G (p.Ser52Cys)
5g.149978134C>TCA361705084SLC26A2n.714C>T
c.482C>T (p.Ser161Phe)
c.155C>T (p.Ser52Phe)
 COSMIC
5g.149978134_149978136delinsCTGCA1590737421SLC26A2n.714_716delinsCTG
c.482_484delinsCTG (p.Ser161=)
c.155_157delinsCTG (p.Ser52=)
5g.149978135T>ACA447402018SLC26A2n.715T>A
c.483T>A (p.Ser161=)
c.156T>A (p.Ser52=)
5g.149978135T>CCA447402019SLC26A2n.715T>C
c.483T>C (p.Ser161=)
c.156T>C (p.Ser52=)
5g.149978135T>GCA447402020SLC26A2n.715T>G
c.483T>G (p.Ser161=)
c.156T>G (p.Ser52=)
5g.149978137_149978138delCA3505259SLC26A2n.717_718del
c.485_486del (p.Val162GlyfsTer12)
c.158_159del (p.Val53GlyfsTer12)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978136G>ACA361705087SLC26A2n.716G>A
c.484G>A (p.Val162Met)
c.157G>A (p.Val53Met)
5g.149978136G>CCA361705088SLC26A2n.716G>C
c.484G>C (p.Val162Leu)
c.157G>C (p.Val53Leu)
5g.149978136G=CA1590737422SLC26A2n.716G=
c.484G= (p.Val162=)
c.157G= (p.Val53=)
5g.149978136G>TCA3505260SLC26A2n.716G>T
c.484G>T (p.Val162Leu)
c.157G>T (p.Val53Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978137T>ACA361705089SLC26A2n.717T>A
c.485T>A (p.Val162Glu)
c.158T>A (p.Val53Glu)
5g.149978137T>CCA3505261SLC26A2n.717T>C
c.485T>C (p.Val162Ala)
c.158T>C (p.Val53Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978137T>GCA361705090SLC26A2n.717T>G
c.485T>G (p.Val162Gly)
c.158T>G (p.Val53Gly)
5g.149978137T=CA1590737423SLC26A2n.717T=
c.485T= (p.Val162=)
c.158T= (p.Val53=)
5g.149978138G>ACA447402023SLC26A2n.718G>A
c.486G>A (p.Val162=)
c.159G>A (p.Val53=)
5g.149978138G>CCA447402021SLC26A2n.718G>C
c.486G>C (p.Val162=)
c.159G>C (p.Val53=)
5g.149978138G>TCA447402022SLC26A2n.718G>T
c.486G>T (p.Val162=)
c.159G>T (p.Val53=)
5g.149978139G>ACA361705091SLC26A2n.719G>A
c.487G>A (p.Gly163Ser)
c.160G>A (p.Gly54Ser)
5g.149978139G>CCA361705092SLC26A2n.719G>C
c.487G>C (p.Gly163Arg)
c.160G>C (p.Gly54Arg)
5g.149978139G>TCA361705093SLC26A2n.719G>T
c.487G>T (p.Gly163Cys)
c.160G>T (p.Gly54Cys)
5g.149978140G>ACA3505262SLC26A2n.720G>A
c.488G>A (p.Gly163Asp)
c.161G>A (p.Gly54Asp)
 dbSNP ExAC gnomAD v2
5g.149978140G>CCA361705094SLC26A2n.720G>C
c.488G>C (p.Gly163Ala)
c.161G>C (p.Gly54Ala)
5g.149978140G=CA1590737424SLC26A2n.720G=
c.488G= (p.Gly163=)
c.161G= (p.Gly54=)
5g.149978140G>TCA361705095SLC26A2n.720G>T
c.488G>T (p.Gly163Val)
c.161G>T (p.Gly54Val)
5g.149978141C>ACA447402024SLC26A2n.721C>A
c.489C>A (p.Gly163=)
c.162C>A (p.Gly54=)
5g.149978141C>GCA447402025SLC26A2n.721C>G
c.489C>G (p.Gly163=)
c.162C>G (p.Gly54=)
5g.149978141C>TCA447402026SLC26A2n.721C>T
c.489C>T (p.Gly163=)
c.162C>T (p.Gly54=)
5g.149978142A=CA1590737425SLC26A2n.722A=
c.490A= (p.Ile164=)
c.163A= (p.Ile55=)
5g.149978142A>CCA361705097SLC26A2n.722A>C
c.490A>C (p.Ile164Leu)
c.163A>C (p.Ile55Leu)
5g.149978142A>GCA3505263SLC26A2n.722A>G
c.490A>G (p.Ile164Val)
c.163A>G (p.Ile55Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.149978142A>TCA361705096SLC26A2n.722A>T
c.490A>T (p.Ile164Phe)
c.163A>T (p.Ile55Phe)
 gnomAD v4
5g.149978143T>ACA361705098SLC26A2n.723T>A
c.491T>A (p.Ile164Asn)
c.164T>A (p.Ile55Asn)
5g.149978143T>CCA361705099SLC26A2n.723T>C
c.491T>C (p.Ile164Thr)
c.164T>C (p.Ile55Thr)
 gnomAD v4
5g.149978143T>GCA361705100SLC26A2n.723T>G
c.491T>G (p.Ile164Ser)
c.164T>G (p.Ile55Ser)
5g.149978144T>ACA447402027SLC26A2n.724T>A
c.492T>A (p.Ile164=)
c.165T>A (p.Ile55=)
 gnomAD v4
5g.149978144T>CCA447402028SLC26A2n.724T>C
c.492T>C (p.Ile164=)
c.165T>C (p.Ile55=)
 gnomAD v4
5g.149978144T>GCA361705101SLC26A2n.724T>G
c.492T>G (p.Ile164Met)
c.165T>G (p.Ile55Met)
5g.149978145T>ACA361705102SLC26A2n.725T>A
c.493T>A (p.Phe165Ile)
c.166T>A (p.Phe56Ile)
5g.149978145T>CCA361705103SLC26A2n.725T>C
c.493T>C (p.Phe165Leu)
c.166T>C (p.Phe56Leu)
5g.149978145T>GCA361705104SLC26A2n.725T>G
c.493T>G (p.Phe165Val)
c.166T>G (p.Phe56Val)
 gnomAD v4
5g.149978146T>ACA361705105SLC26A2n.726T>A
c.494T>A (p.Phe165Tyr)
c.167T>A (p.Phe56Tyr)
5g.149978146T>CCA361705106SLC26A2n.726T>C
c.494T>C (p.Phe165Ser)
c.167T>C (p.Phe56Ser)
5g.149978146T>GCA361705107SLC26A2n.726T>G
c.494T>G (p.Phe165Cys)
c.167T>G (p.Phe56Cys)
5g.149978147T>ACA361705108SLC26A2n.727T>A
c.495T>A (p.Phe165Leu)
c.168T>A (p.Phe56Leu)
5g.149978147T>CCA447402029SLC26A2n.727T>C
c.495T>C (p.Phe165=)
c.168T>C (p.Phe56=)
5g.149978147T>GCA361705109SLC26A2n.727T>G
c.495T>G (p.Phe165Leu)
c.168T>G (p.Phe56Leu)
5g.149978148G>ACA263269SLC26A2n.728G>A
c.496G>A (p.Gly166Arg)
c.169G>A (p.Gly57Arg)
 ClinVar dbSNP gnomAD v4
5g.149978148G>CCA361705111SLC26A2n.728G>C
c.496G>C (p.Gly166Arg)
c.169G>C (p.Gly57Arg)
5g.149978148G=CA1590737426SLC26A2n.728G=
c.496G= (p.Gly166=)
c.169G= (p.Gly57=)
5g.149978148G>TCA361705110SLC26A2n.728G>T
c.496G>T (p.Gly166Ter)
c.169G>T (p.Gly57Ter)
5g.149978149G>ACA361705112SLC26A2n.729G>A
c.497G>A (p.Gly166Glu)
c.170G>A (p.Gly57Glu)
5g.149978149G>CCA361705113SLC26A2n.729G>C
c.497G>C (p.Gly166Ala)
c.170G>C (p.Gly57Ala)
5g.149978149G>TCA361705114SLC26A2n.729G>T
c.497G>T (p.Gly166Val)
c.170G>T (p.Gly57Val)
5g.149978150_149978151delCA913108443SLC26A2n.730_731del
c.498_499del (p.Val167ThrfsTer7)
c.171_172del (p.Val58ThrfsTer7)
5g.149978150A>CCA447402030SLC26A2n.730A>C
c.498A>C (p.Gly166=)
c.171A>C (p.Gly57=)
5g.149978150A>GCA447402031SLC26A2n.730A>G
c.498A>G (p.Gly166=)
c.171A>G (p.Gly57=)
5g.149978150A>TCA447402032SLC26A2n.730A>T
c.498A>T (p.Gly166=)
c.171A>T (p.Gly57=)
5g.149978150_149978151delinsAGCA1590737427SLC26A2n.730_731delinsAG
c.498_499delinsAG (p.Gly166=)
c.171_172delinsAG (p.Gly57=)
5g.149978151delCA658822213SLC26A2n.731del
c.499del (p.Val167TyrfsTer5)
c.172del (p.Val58TyrfsTer5)
 ClinVar dbSNP
5g.149978151G>ACA361705115SLC26A2n.731G>A
c.499G>A (p.Val167Ile)
c.172G>A (p.Val58Ile)
 dbSNP gnomAD v2
5g.149978151G>CCA361705116SLC26A2n.731G>C
c.499G>C (p.Val167Leu)
c.172G>C (p.Val58Leu)
5g.149978151G=CA1590737428SLC26A2n.731G=
c.499G= (p.Val167=)
c.172G= (p.Val58=)
5g.149978151G>TCA361705117SLC26A2n.731G>T
c.499G>T (p.Val167Leu)
c.172G>T (p.Val58Leu)
 dbSNP gnomAD v3 gnomAD v4
5g.149978152T>ACA361705118SLC26A2n.732T>A
c.500T>A (p.Val167Glu)
c.173T>A (p.Val58Glu)
5g.149978152T>CCA361705119SLC26A2n.732T>C
c.500T>C (p.Val167Ala)
c.173T>C (p.Val58Ala)
5g.149978152T>GCA361705120SLC26A2n.732T>G
c.500T>G (p.Val167Gly)
c.173T>G (p.Val58Gly)
5g.149978153A>CCA447402034SLC26A2n.733A>C
c.501A>C (p.Val167=)
c.174A>C (p.Val58=)
5g.149978153A>GCA447402035SLC26A2n.733A>G
c.501A>G (p.Val167=)
c.174A>G (p.Val58=)
5g.149978153A>TCA447402033SLC26A2n.733A>T
c.501A>T (p.Val167=)
c.174A>T (p.Val58=)
5g.149978154C>ACA361705121SLC26A2n.734C>A
c.502C>A (p.Leu168Met)
c.175C>A (p.Leu59Met)
5g.149978154C=CA1590737429SLC26A2n.734C=
c.502C= (p.Leu168=)
c.175C= (p.Leu59=)
5g.149978154C>GCA361705122SLC26A2n.734C>G
c.502C>G (p.Leu168Val)
c.175C>G (p.Leu59Val)
5g.149978154C>TCA3505264SLC26A2n.734C>T
c.502C>T (p.Leu168=)
c.175C>T (p.Leu59=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978155T>ACA361705124SLC26A2n.735T>A
c.503T>A (p.Leu168Gln)
c.176T>A (p.Leu59Gln)
5g.149978155T>CCA361705125SLC26A2n.735T>C
c.503T>C (p.Leu168Pro)
c.176T>C (p.Leu59Pro)
 dbSNP gnomAD v2 gnomAD v4
5g.149978155T>GCA361705123SLC26A2n.735T>G
c.503T>G (p.Leu168Arg)
c.176T>G (p.Leu59Arg)
5g.149978155T=CA1590737430SLC26A2n.735T=
c.503T= (p.Leu168=)
c.176T= (p.Leu59=)
5g.149978156G>ACA447402036SLC26A2n.736G>A
c.504G>A (p.Leu168=)
c.177G>A (p.Leu59=)
5g.149978156G>CCA447402037SLC26A2n.736G>C
c.504G>C (p.Leu168=)
c.177G>C (p.Leu59=)
5g.149978156G>TCA447402038SLC26A2n.736G>T
c.504G>T (p.Leu168=)
c.177G>T (p.Leu59=)
5g.149978157T>ACA361705126SLC26A2n.737T>A
c.505T>A (p.Cys169Ser)
c.178T>A (p.Cys60Ser)
5g.149978157T>CCA361705127SLC26A2n.737T>C
c.505T>C (p.Cys169Arg)
c.178T>C (p.Cys60Arg)
 dbSNP
5g.149978157T>GCA361705128SLC26A2n.737T>G
c.505T>G (p.Cys169Gly)
c.178T>G (p.Cys60Gly)
5g.149978157T=CA1590737431SLC26A2n.737T=
c.505T= (p.Cys169=)
c.178T= (p.Cys60=)
5g.149978158G>ACA361705129SLC26A2n.738G>A
c.506G>A (p.Cys169Tyr)
c.179G>A (p.Cys60Tyr)
5g.149978158G>CCA361705130SLC26A2n.738G>C
c.506G>C (p.Cys169Ser)
c.179G>C (p.Cys60Ser)
5g.149978158G>TCA361705131SLC26A2n.738G>T
c.506G>T (p.Cys169Phe)
c.179G>T (p.Cys60Phe)
 COSMIC
5g.149978159C>ACA361705133SLC26A2n.739C>A
c.507C>A (p.Cys169Ter)
c.180C>A (p.Cys60Ter)
 dbSNP gnomAD v3 gnomAD v4
5g.149978159C=CA1590737432SLC26A2n.739C=
c.507C= (p.Cys169=)
c.180C= (p.Cys60=)
5g.149978159C>GCA361705132SLC26A2n.739C>G
c.507C>G (p.Cys169Trp)
c.180C>G (p.Cys60Trp)
 gnomAD v4
5g.149978159C>TCA447402039SLC26A2n.739C>T
c.507C>T (p.Cys169=)
c.180C>T (p.Cys60=)
5g.149978160C>ACA361705134SLC26A2n.740C>A
c.508C>A (p.Leu170Ile)
c.181C>A (p.Leu61Ile)
5g.149978160C=CA1590737433SLC26A2n.740C=
c.508C= (p.Leu170=)
c.181C= (p.Leu61=)
5g.149978160C>GCA361705135SLC26A2n.740C>G
c.508C>G (p.Leu170Val)
c.181C>G (p.Leu61Val)
5g.149978160C>TCA361705136SLC26A2n.740C>T
c.508C>T (p.Leu170Phe)
c.181C>T (p.Leu61Phe)
 dbSNP
5g.149978161T>ACA361705137SLC26A2n.741T>A
c.509T>A (p.Leu170His)
c.182T>A (p.Leu61His)
5g.149978161T>CCA361705138SLC26A2n.741T>C
c.509T>C (p.Leu170Pro)
c.182T>C (p.Leu61Pro)
5g.149978161T>GCA361705139SLC26A2n.741T>G
c.509T>G (p.Leu170Arg)
c.182T>G (p.Leu61Arg)
5g.149978162T>ACA447402040SLC26A2n.742T>A
c.510T>A (p.Leu170=)
c.183T>A (p.Leu61=)
5g.149978162T>CCA447402041SLC26A2n.742T>C
c.510T>C (p.Leu170=)
c.183T>C (p.Leu61=)
5g.149978162T>GCA447402042SLC26A2n.742T>G
c.510T>G (p.Leu170=)
c.183T>G (p.Leu61=)
5g.149978163A>CCA361705142SLC26A2n.743A>C
c.511A>C (p.Met171Leu)
c.184A>C (p.Met62Leu)
5g.149978163A>GCA361705141SLC26A2n.743A>G
c.511A>G (p.Met171Val)
c.184A>G (p.Met62Val)
 gnomAD v4
5g.149978163A>TCA361705140SLC26A2n.743A>T
c.511A>T (p.Met171Leu)
c.184A>T (p.Met62Leu)
5g.149978164T>ACA361705143SLC26A2n.744T>A
c.512T>A (p.Met171Lys)
c.185T>A (p.Met62Lys)
5g.149978164T>CCA3505265SLC26A2n.744T>C
c.512T>C (p.Met171Thr)
c.185T>C (p.Met62Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978164T>GCA361705144SLC26A2n.744T>G
c.512T>G (p.Met171Arg)
c.185T>G (p.Met62Arg)
5g.149978164T=CA1590737434SLC26A2n.744T=
c.512T= (p.Met171=)
c.185T= (p.Met62=)
5g.149978165G>ACA3505266SLC26A2n.745G>A
c.513G>A (p.Met171Ile)
c.186G>A (p.Met62Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.149978165G>CCA361705145SLC26A2n.745G>C
c.513G>C (p.Met171Ile)
c.186G>C (p.Met62Ile)
 gnomAD v4
5g.149978165G=CA1590737435SLC26A2n.745G=
c.513G= (p.Met171=)
c.186G= (p.Met62=)
5g.149978165G>TCA361705146SLC26A2n.745G>T
c.513G>T (p.Met171Ile)
c.186G>T (p.Met62Ile)
5g.149978166A>CCA361705147SLC26A2n.746A>C
c.514A>C (p.Ile172Leu)
c.187A>C (p.Ile63Leu)
5g.149978166A>GCA361705148SLC26A2n.746A>G
c.514A>G (p.Ile172Val)
c.187A>G (p.Ile63Val)
5g.149978166A>TCA361705149SLC26A2n.746A>T
c.514A>T (p.Ile172Phe)
c.187A>T (p.Ile63Phe)
 gnomAD v4
5g.149978167T>ACA361705150SLC26A2n.747T>A
c.515T>A (p.Ile172Asn)
c.188T>A (p.Ile63Asn)
5g.149978167T>CCA3505267SLC26A2n.747T>C
c.515T>C (p.Ile172Thr)
c.188T>C (p.Ile63Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978167T>GCA361705151SLC26A2n.747T>G
c.515T>G (p.Ile172Ser)
c.188T>G (p.Ile63Ser)
5g.149978167T=CA1590737436SLC26A2n.747T=
c.515T= (p.Ile172=)
c.188T= (p.Ile63=)
5g.149978168T>ACA447402043SLC26A2n.748T>A
c.516T>A (p.Ile172=)
c.189T>A (p.Ile63=)
5g.149978168T>CCA447402044SLC26A2n.748T>C
c.516T>C (p.Ile172=)
c.189T>C (p.Ile63=)
5g.149978168T>GCA361705152SLC26A2n.748T>G
c.516T>G (p.Ile172Met)
c.189T>G (p.Ile63Met)
5g.149978169G>ACA361705155SLC26A2n.749G>A
c.517G>A (p.Gly173Ser)
c.190G>A (p.Gly64Ser)
5g.149978169G>CCA361705154SLC26A2n.749G>C
c.517G>C (p.Gly173Arg)
c.190G>C (p.Gly64Arg)
5g.149978169G>TCA361705153SLC26A2n.749G>T
c.517G>T (p.Gly173Cys)
c.190G>T (p.Gly64Cys)
5g.149978170G>ACA361705156SLC26A2n.750G>A
c.518G>A (p.Gly173Asp)
c.191G>A (p.Gly64Asp)
5g.149978170G>CCA361705157SLC26A2n.750G>C
c.518G>C (p.Gly173Ala)
c.191G>C (p.Gly64Ala)
5g.149978170G>TCA361705158SLC26A2n.750G>T
c.518G>T (p.Gly173Val)
c.191G>T (p.Gly64Val)
5g.149978171T>ACA447402045SLC26A2n.751T>A
c.519T>A (p.Gly173=)
c.192T>A (p.Gly64=)
5g.149978171T>CCA447402046SLC26A2n.751T>C
c.519T>C (p.Gly173=)
c.192T>C (p.Gly64=)
5g.149978171T>GCA447402047SLC26A2n.751T>G
c.519T>G (p.Gly173=)
c.192T>G (p.Gly64=)
5g.149978172G>ACA361705159SLC26A2n.752G>A
c.520G>A (p.Glu174Lys)
c.193G>A (p.Glu65Lys)
 gnomAD v4
5g.149978172G>CCA361705160SLC26A2n.752G>C
c.520G>C (p.Glu174Gln)
c.193G>C (p.Glu65Gln)
5g.149978172G>TCA361705161SLC26A2n.752G>T
c.520G>T (p.Glu174Ter)
c.193G>T (p.Glu65Ter)
5g.149978173A>CCA361705162SLC26A2n.753A>C
c.521A>C (p.Glu174Ala)
c.194A>C (p.Glu65Ala)
5g.149978173A>GCA361705163SLC26A2n.753A>G
c.521A>G (p.Glu174Gly)
c.194A>G (p.Glu65Gly)
5g.149978173A>TCA361705164SLC26A2n.753A>T
c.521A>T (p.Glu174Val)
c.194A>T (p.Glu65Val)
5g.149978174G>ACA129082620SLC26A2n.754G>A
c.522G>A (p.Glu174=)
c.195G>A (p.Glu65=)
 dbSNP
5g.149978174G>CCA361705165SLC26A2n.754G>C
c.522G>C (p.Glu174Asp)
c.195G>C (p.Glu65Asp)
5g.149978174G=CA1590737437SLC26A2n.754G=
c.522G= (p.Glu174=)
c.195G= (p.Glu65=)
5g.149978174G>TCA361705166SLC26A2n.754G>T
c.522G>T (p.Glu174Asp)
c.195G>T (p.Glu65Asp)
5g.149978175A>CCA361705167SLC26A2n.755A>C
c.523A>C (p.Thr175Pro)
c.196A>C (p.Thr66Pro)
5g.149978175A>GCA361705168SLC26A2n.755A>G
c.523A>G (p.Thr175Ala)
c.196A>G (p.Thr66Ala)
5g.149978175A>TCA361705169SLC26A2n.755A>T
c.523A>T (p.Thr175Ser)
c.196A>T (p.Thr66Ser)
5g.149978176C>ACA361705171SLC26A2n.756C>A
c.524C>A (p.Thr175Lys)
c.197C>A (p.Thr66Lys)
 gnomAD v4
5g.149978176C=CA1590737438SLC26A2n.756C=
c.524C= (p.Thr175=)
c.197C= (p.Thr66=)
5g.149978176C>GCA361705172SLC26A2n.756C>G
c.524C>G (p.Thr175Arg)
c.197C>G (p.Thr66Arg)
 dbSNP
5g.149978176C>TCA361705170SLC26A2n.756C>T
c.524C>T (p.Thr175Ile)
c.197C>T (p.Thr66Ile)
5g.149978177A=CA1590737439SLC26A2n.757A=
c.525A= (p.Thr175=)
c.198A= (p.Thr66=)
5g.149978177A>CCA447402048SLC26A2n.757A>C
c.525A>C (p.Thr175=)
c.198A>C (p.Thr66=)
5g.149978177A>GCA447402049SLC26A2n.757A>G
c.525A>G (p.Thr175=)
c.198A>G (p.Thr66=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.149978177A>TCA447402050SLC26A2n.757A>T
c.525A>T (p.Thr175=)
c.198A>T (p.Thr66=)
5g.149978178G>ACA361705173SLC26A2n.758G>A
c.526G>A (p.Val176Ile)
c.199G>A (p.Val67Ile)
5g.149978178G>CCA361705174SLC26A2n.758G>C
c.526G>C (p.Val176Leu)
c.199G>C (p.Val67Leu)
5g.149978178G>TCA361705175SLC26A2n.758G>T
c.526G>T (p.Val176Phe)
c.199G>T (p.Val67Phe)
5g.149978179T>ACA361705176SLC26A2n.759T>A
c.527T>A (p.Val176Asp)
c.200T>A (p.Val67Asp)
5g.149978179T>CCA361705177SLC26A2n.759T>C
c.527T>C (p.Val176Ala)
c.200T>C (p.Val67Ala)
5g.149978179T>GCA361705178SLC26A2n.759T>G
c.527T>G (p.Val176Gly)
c.200T>G (p.Val67Gly)
5g.149978180T>ACA447402051SLC26A2n.760T>A
c.528T>A (p.Val176=)
c.201T>A (p.Val67=)
5g.149978180T>CCA447402052SLC26A2n.760T>C
c.528T>C (p.Val176=)
c.201T>C (p.Val67=)
5g.149978180T>GCA447402053SLC26A2n.760T>G
c.528T>G (p.Val176=)
c.201T>G (p.Val67=)
5g.149978181G>ACA361705179SLC26A2n.761G>A
c.529G>A (p.Asp177Asn)
c.202G>A (p.Asp68Asn)
5g.149978181G>CCA361705180SLC26A2n.761G>C
c.529G>C (p.Asp177His)
c.202G>C (p.Asp68His)
5g.149978181G>TCA361705181SLC26A2n.761G>T
c.529G>T (p.Asp177Tyr)
c.202G>T (p.Asp68Tyr)
5g.149978182A>CCA361705182SLC26A2n.762A>C
c.530A>C (p.Asp177Ala)
c.203A>C (p.Asp68Ala)
5g.149978182A>GCA361705183SLC26A2n.762A>G
c.530A>G (p.Asp177Gly)
c.203A>G (p.Asp68Gly)
 gnomAD v4
5g.149978182A>TCA361705184SLC26A2n.762A>T
c.530A>T (p.Asp177Val)
c.203A>T (p.Asp68Val)
5g.149978183C>ACA361705185SLC26A2n.763C>A
c.531C>A (p.Asp177Glu)
c.204C>A (p.Asp68Glu)
5g.149978183C>GCA361705186SLC26A2n.763C>G
c.531C>G (p.Asp177Glu)
c.204C>G (p.Asp68Glu)
5g.149978183C>TCA447402054SLC26A2n.763C>T
c.531C>T (p.Asp177=)
c.204C>T (p.Asp68=)
 gnomAD v4
5g.149978184C>ACA447402055SLC26A2n.764C>A
c.532C>A (p.Arg178=)
c.205C>A (p.Arg69=)
5g.149978184C=CA1590737440SLC26A2n.764C=
c.532C= (p.Arg178=)
c.205C= (p.Arg69=)
5g.149978184C>GCA361705187SLC26A2n.764C>G
c.532C>G (p.Arg178Gly)
c.205C>G (p.Arg69Gly)
5g.149978184C>TCA259839SLC26A2n.764C>T
c.532C>T (p.Arg178Ter)
c.205C>T (p.Arg69Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978185G>ACA3505268SLC26A2n.765G>A
c.533G>A (p.Arg178Gln)
c.206G>A (p.Arg69Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978185G>CCA361705188SLC26A2n.765G>C
c.533G>C (p.Arg178Pro)
c.206G>C (p.Arg69Pro)
5g.149978185G=CA1590737441SLC26A2n.765G=
c.533G= (p.Arg178=)
c.206G= (p.Arg69=)
5g.149978185G>TCA361705189SLC26A2n.765G>T
c.533G>T (p.Arg178Leu)
c.206G>T (p.Arg69Leu)
 gnomAD v4
5g.149978186A=CA1590737442SLC26A2n.766A=
c.534A= (p.Arg178=)
c.207A= (p.Arg69=)
5g.149978186A>CCA447402056SLC26A2n.766A>C
c.534A>C (p.Arg178=)
c.207A>C (p.Arg69=)
5g.149978186A>GCA129082639SLC26A2n.766A>G
c.534A>G (p.Arg178=)
c.207A>G (p.Arg69=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149978186A>TCA447402057SLC26A2n.766A>T
c.534A>T (p.Arg178=)
c.207A>T (p.Arg69=)
5g.149978187G>ACA3505269SLC26A2n.767G>A
c.535G>A (p.Glu179Lys)
c.208G>A (p.Glu70Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978187G>CCA361705190SLC26A2n.767G>C
c.535G>C (p.Glu179Gln)
c.208G>C (p.Glu70Gln)
5g.149978187G=CA1590737443SLC26A2n.767G=
c.535G= (p.Glu179=)
c.208G= (p.Glu70=)
5g.149978187G>TCA361705191SLC26A2n.767G>T
c.535G>T (p.Glu179Ter)
c.208G>T (p.Glu70Ter)
 COSMIC
5g.149978188A>CCA361705192SLC26A2n.768A>C
c.536A>C (p.Glu179Ala)
c.209A>C (p.Glu70Ala)
5g.149978188A>GCA361705193SLC26A2n.768A>G
c.536A>G (p.Glu179Gly)
c.209A>G (p.Glu70Gly)
5g.149978188A>TCA361705194SLC26A2n.768A>T
c.536A>T (p.Glu179Val)
c.209A>T (p.Glu70Val)
5g.149978189A>CCA361705195SLC26A2n.769A>C
c.537A>C (p.Glu179Asp)
c.210A>C (p.Glu70Asp)
5g.149978189A>GCA447402058SLC26A2n.769A>G
c.537A>G (p.Glu179=)
c.210A>G (p.Glu70=)
5g.149978189A>TCA361705196SLC26A2n.769A>T
c.537A>T (p.Glu179Asp)
c.210A>T (p.Glu70Asp)
5g.149978190C>ACA361705198SLC26A2n.770C>A
c.538C>A (p.Leu180Ile)
c.211C>A (p.Leu71Ile)
5g.149978190C>GCA361705197SLC26A2n.770C>G
c.538C>G (p.Leu180Val)
c.211C>G (p.Leu71Val)
5g.149978190C>TCA447402059SLC26A2n.770C>T
c.538C>T (p.Leu180=)
c.211C>T (p.Leu71=)
5g.149978191T>ACA361705199SLC26A2n.771T>A
c.539T>A (p.Leu180Gln)
c.212T>A (p.Leu71Gln)
5g.149978191T>CCA361705201SLC26A2n.771T>C
c.539T>C (p.Leu180Pro)
c.212T>C (p.Leu71Pro)
5g.149978191T>GCA361705200SLC26A2n.771T>G
c.539T>G (p.Leu180Arg)
c.212T>G (p.Leu71Arg)
5g.149978192A>CCA447402060SLC26A2n.772A>C
c.540A>C (p.Leu180=)
c.213A>C (p.Leu71=)
5g.149978192A>GCA447402061SLC26A2n.772A>G
c.540A>G (p.Leu180=)
c.213A>G (p.Leu71=)
 ClinVar
5g.149978192A>TCA447402062SLC26A2n.772A>T
c.540A>T (p.Leu180=)
c.213A>T (p.Leu71=)
5g.149978193C>ACA361705202SLC26A2n.773C>A
c.541C>A (p.Gln181Lys)
c.214C>A (p.Gln72Lys)
5g.149978193C=CA1590737444SLC26A2n.773C=
c.541C= (p.Gln181=)
c.214C= (p.Gln72=)
5g.149978193C>GCA361705203SLC26A2n.773C>G
c.541C>G (p.Gln181Glu)
c.214C>G (p.Gln72Glu)
5g.149978193C>TCA16040988SLC26A2n.773C>T
c.541C>T (p.Gln181Ter)
c.214C>T (p.Gln72Ter)
 ClinVar dbSNP
5g.149978194A>CCA361705204SLC26A2n.774A>C
c.542A>C (p.Gln181Pro)
c.215A>C (p.Gln72Pro)
5g.149978194A>GCA361705205SLC26A2n.774A>G
c.542A>G (p.Gln181Arg)
c.215A>G (p.Gln72Arg)
 gnomAD v4
5g.149978194A>TCA361705206SLC26A2n.774A>T
c.542A>T (p.Gln181Leu)
c.215A>T (p.Gln72Leu)
5g.149978195G>ACA447402063SLC26A2n.775G>A
c.543G>A (p.Gln181=)
c.216G>A (p.Gln72=)
5g.149978195G>CCA361705207SLC26A2n.775G>C
c.543G>C (p.Gln181His)
c.216G>C (p.Gln72His)
5g.149978195G>TCA361705208SLC26A2n.775G>T
c.543G>T (p.Gln181His)
c.216G>T (p.Gln72His)
5g.149978196A>CCA361705209SLC26A2n.776A>C
c.544A>C (p.Lys182Gln)
c.217A>C (p.Lys73Gln)
5g.149978196A>GCA361705211SLC26A2n.776A>G
c.544A>G (p.Lys182Glu)
c.217A>G (p.Lys73Glu)
5g.149978196A>TCA361705210SLC26A2n.776A>T
c.544A>T (p.Lys182Ter)
c.217A>T (p.Lys73Ter)
5g.149978200_149978296dupCA2768879950SLC26A2n.780_876dup
c.548_644dup (p.Cys216TrpfsTer3)
c.221_317dup (p.Cys107TrpfsTer3)
5g.149978197A=CA1590737445SLC26A2n.777A=
c.545A= (p.Lys182=)
c.218A= (p.Lys73=)
5g.149978197A>CCA361705212SLC26A2n.777A>C
c.545A>C (p.Lys182Thr)
c.218A>C (p.Lys73Thr)
5g.149978197A>GCA361705213SLC26A2n.777A>G
c.545A>G (p.Lys182Arg)
c.218A>G (p.Lys73Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.149978197A>TCA361705214SLC26A2n.777A>T
c.545A>T (p.Lys182Ile)
c.218A>T (p.Lys73Ile)
5g.149978198A>CCA361705215SLC26A2n.778A>C
c.546A>C (p.Lys182Asn)
c.219A>C (p.Lys73Asn)
5g.149978198A>GCA447402064SLC26A2n.778A>G
c.546A>G (p.Lys182=)
c.219A>G (p.Lys73=)
 gnomAD v4
5g.149978198A>TCA361705216SLC26A2n.778A>T
c.546A>T (p.Lys182Asn)
c.219A>T (p.Lys73Asn)
5g.149978199G>ACA361705217SLC26A2n.779G>A
c.547G>A (p.Ala183Thr)
c.220G>A (p.Ala74Thr)
 dbSNP gnomAD v4
5g.149978199G>CCA361705219SLC26A2n.779G>C
c.547G>C (p.Ala183Pro)
c.220G>C (p.Ala74Pro)
 ClinVar dbSNP
5g.149978199G=CA1590737446SLC26A2n.779G=
c.547G= (p.Ala183=)
c.220G= (p.Ala74=)
5g.149978199G>TCA361705218SLC26A2n.779G>T
c.547G>T (p.Ala183Ser)
c.220G>T (p.Ala74Ser)
 gnomAD v4
5g.149978200C>ACA361705220SLC26A2n.780C>A
c.548C>A (p.Ala183Asp)
c.221C>A (p.Ala74Asp)
5g.149978200C=CA1590737447SLC26A2n.780C=
c.548C= (p.Ala183=)
c.221C= (p.Ala74=)
5g.149978200C>GCA361705221SLC26A2n.780C>G
c.548C>G (p.Ala183Gly)
c.221C>G (p.Ala74Gly)
5g.149978200C>TCA361705222SLC26A2n.780C>T
c.548C>T (p.Ala183Val)
c.221C>T (p.Ala74Val)
 dbSNP gnomAD v4
5g.149978201T>ACA447402067SLC26A2n.781T>A
c.549T>A (p.Ala183=)
c.222T>A (p.Ala74=)
5g.149978201T>CCA447402066SLC26A2n.781T>C
c.549T>C (p.Ala183=)
c.222T>C (p.Ala74=)
5g.149978201T>GCA447402065SLC26A2n.781T>G
c.549T>G (p.Ala183=)
c.222T>G (p.Ala74=)
5g.149978202G>ACA361705223SLC26A2n.782G>A
c.550G>A (p.Gly184Ser)
c.223G>A (p.Gly75Ser)
5g.149978202G>CCA361705224SLC26A2n.782G>C
c.550G>C (p.Gly184Arg)
c.223G>C (p.Gly75Arg)
5g.149978202G>TCA361705225SLC26A2n.782G>T
c.550G>T (p.Gly184Cys)
c.223G>T (p.Gly75Cys)
5g.149978203G>ACA361705226SLC26A2n.783G>A
c.551G>A (p.Gly184Asp)
c.224G>A (p.Gly75Asp)
5g.149978203G>CCA361705227SLC26A2n.783G>C
c.551G>C (p.Gly184Ala)
c.224G>C (p.Gly75Ala)
5g.149978203G=CA1590737448SLC26A2n.783G=
c.551G= (p.Gly184=)
c.224G= (p.Gly75=)
5g.149978203G>TCA3505270SLC26A2n.783G>T
c.551G>T (p.Gly184Val)
c.224G>T (p.Gly75Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.149978204C>ACA447402068SLC26A2n.784C>A
c.552C>A (p.Gly184=)
c.225C>A (p.Gly75=)
5g.149978204C=CA1590737449SLC26A2n.784C=
c.552C= (p.Gly184=)
c.225C= (p.Gly75=)
5g.149978204C>GCA3505271SLC26A2n.784C>G
c.552C>G (p.Gly184=)
c.225C>G (p.Gly75=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978204C>TCA447402069SLC26A2n.784C>T
c.552C>T (p.Gly184=)
c.225C>T (p.Gly75=)
 gnomAD v4
5g.149978205T>ACA361705228SLC26A2n.785T>A
c.553T>A (p.Tyr185Asn)
c.226T>A (p.Tyr76Asn)
 gnomAD v4
5g.149978205T>CCA361705229SLC26A2n.785T>C
c.553T>C (p.Tyr185His)
c.226T>C (p.Tyr76His)
5g.149978205T>GCA361705230SLC26A2n.785T>G
c.553T>G (p.Tyr185Asp)
c.226T>G (p.Tyr76Asp)
5g.149978206A=CA1590737450SLC26A2n.786A=
c.554A= (p.Tyr185=)
c.227A= (p.Tyr76=)
5g.149978206A>CCA361705231SLC26A2n.786A>C
c.554A>C (p.Tyr185Ser)
c.227A>C (p.Tyr76Ser)
 gnomAD v4
5g.149978206A>GCA3505272SLC26A2n.786A>G
c.554A>G (p.Tyr185Cys)
c.227A>G (p.Tyr76Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978206A>TCA361705232SLC26A2n.786A>T
c.554A>T (p.Tyr185Phe)
c.227A>T (p.Tyr76Phe)
5g.149978207T>ACA361705233SLC26A2n.787T>A
c.555T>A (p.Tyr185Ter)
c.228T>A (p.Tyr76Ter)
5g.149978207T>CCA3505273SLC26A2n.787T>C
c.555T>C (p.Tyr185=)
c.228T>C (p.Tyr76=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.149978207T>GCA361705234SLC26A2n.787T>G
c.555T>G (p.Tyr185Ter)
c.228T>G (p.Tyr76Ter)
5g.149978207T=CA1590737451SLC26A2n.787T=
c.555T= (p.Tyr185=)
c.228T= (p.Tyr76=)
5g.149978208G>ACA361705235SLC26A2n.788G>A
c.556G>A (p.Asp186Asn)
c.229G>A (p.Asp77Asn)
5g.149978208G>CCA3505274SLC26A2n.788G>C
c.556G>C (p.Asp186His)
c.229G>C (p.Asp77His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978208G=CA1590737452SLC26A2n.788G=
c.556G= (p.Asp186=)
c.229G= (p.Asp77=)
5g.149978208G>TCA361705236SLC26A2n.788G>T
c.556G>T (p.Asp186Tyr)
c.229G>T (p.Asp77Tyr)
5g.149978209A>CCA361705239SLC26A2n.789A>C
c.557A>C (p.Asp186Ala)
c.230A>C (p.Asp77Ala)
5g.149978209A>GCA361705237SLC26A2n.789A>G
c.557A>G (p.Asp186Gly)
c.230A>G (p.Asp77Gly)
5g.149978209A>TCA361705238SLC26A2n.789A>T
c.557A>T (p.Asp186Val)
c.230A>T (p.Asp77Val)
5g.149978210C>ACA361705240SLC26A2n.790C>A
c.558C>A (p.Asp186Glu)
c.231C>A (p.Asp77Glu)
5g.149978210C=CA1590737453SLC26A2n.790C=
c.558C= (p.Asp186=)
c.231C= (p.Asp77=)
5g.149978210C>GCA361705241SLC26A2n.790C>G
c.558C>G (p.Asp186Glu)
c.231C>G (p.Asp77Glu)
5g.149978210C>TCA447402077SLC26A2n.790C>T
c.558C>T (p.Asp186=)
c.231C>T (p.Asp77=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.149978211A=CA1590737454SLC26A2n.791A=
c.559A= (p.Asn187=)
c.232A= (p.Asn78=)
5g.149978211A>CCA361705242SLC26A2n.791A>C
c.559A>C (p.Asn187His)
c.232A>C (p.Asn78His)
5g.149978211A>GCA361705243SLC26A2n.791A>G
c.559A>G (p.Asn187Asp)
c.232A>G (p.Asn78Asp)
5g.149978211A>TCA361705244SLC26A2n.791A>T
c.559A>T (p.Asn187Tyr)
c.232A>T (p.Asn78Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149978212A=CA1590737455SLC26A2n.792A=
c.560A= (p.Asn187=)
c.233A= (p.Asn78=)
5g.149978212A>CCA361705245SLC26A2n.792A>C
c.560A>C (p.Asn187Thr)
c.233A>C (p.Asn78Thr)
5g.149978212A>GCA3505275SLC26A2n.792A>G
c.560A>G (p.Asn187Ser)
c.233A>G (p.Asn78Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978212A>TCA361705246SLC26A2n.792A>T
c.560A>T (p.Asn187Ile)
c.233A>T (p.Asn78Ile)
5g.149978213T>ACA361705247SLC26A2n.793T>A
c.561T>A (p.Asn187Lys)
c.234T>A (p.Asn78Lys)
5g.149978213T>CCA447402082SLC26A2n.793T>C
c.561T>C (p.Asn187=)
c.234T>C (p.Asn78=)
5g.149978213T>GCA361705248SLC26A2n.793T>G
c.561T>G (p.Asn187Lys)
c.234T>G (p.Asn78Lys)
5g.149978214G>ACA361705249SLC26A2n.794G>A
c.562G>A (p.Ala188Thr)
c.235G>A (p.Ala79Thr)
 dbSNP
5g.149978214G>CCA361705250SLC26A2n.794G>C
c.562G>C (p.Ala188Pro)
c.235G>C (p.Ala79Pro)
5g.149978214G=CA1590737456SLC26A2n.794G=
c.562G= (p.Ala188=)
c.235G= (p.Ala79=)
5g.149978214G>TCA361705251SLC26A2n.794G>T
c.562G>T (p.Ala188Ser)
c.235G>T (p.Ala79Ser)
 gnomAD v4
5g.149978215C>ACA361705252SLC26A2n.795C>A
c.563C>A (p.Ala188Asp)
c.236C>A (p.Ala79Asp)
5g.149978215C>GCA361705253SLC26A2n.795C>G
c.563C>G (p.Ala188Gly)
c.236C>G (p.Ala79Gly)
5g.149978215C>TCA361705254SLC26A2n.795C>T
c.563C>T (p.Ala188Val)
c.236C>T (p.Ala79Val)
5g.149978216C>ACA447402089SLC26A2n.796C>A
c.564C>A (p.Ala188=)
c.237C>A (p.Ala79=)
5g.149978216C=CA1590737457SLC26A2n.796C=
c.564C= (p.Ala188=)
c.237C= (p.Ala79=)
5g.149978216C>GCA447402088SLC26A2n.796C>G
c.564C>G (p.Ala188=)
c.237C>G (p.Ala79=)
 dbSNP gnomAD v2 gnomAD v4
5g.149978216C>TCA447402087SLC26A2n.796C>T
c.564C>T (p.Ala188=)
c.237C>T (p.Ala79=)
 gnomAD v4
5g.149978217C>ACA361705255SLC26A2n.797C>A
c.565C>A (p.His189Asn)
c.238C>A (p.His80Asn)
5g.149978217C=CA1590737458SLC26A2n.797C=
c.565C= (p.His189=)
c.238C= (p.His80=)
5g.149978217C>GCA361705256SLC26A2n.797C>G
c.565C>G (p.His189Asp)
c.238C>G (p.His80Asp)
5g.149978217C>TCA361705257SLC26A2n.797C>T
c.565C>T (p.His189Tyr)
c.238C>T (p.His80Tyr)
 dbSNP gnomAD v2 gnomAD v4
5g.149978218A=CA1590737459SLC26A2n.798A=
c.566A= (p.His189=)
c.239A= (p.His80=)
5g.149978218A>CCA361705259SLC26A2n.798A>C
c.566A>C (p.His189Pro)
c.239A>C (p.His80Pro)
5g.149978218A>GCA3505276SLC26A2n.798A>G
c.566A>G (p.His189Arg)
c.239A>G (p.His80Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149978218A>TCA361705258SLC26A2n.798A>T
c.566A>T (p.His189Leu)
c.239A>T (p.His80Leu)
5g.149978219T>ACA361705260SLC26A2n.799T>A
c.567T>A (p.His189Gln)
c.240T>A (p.His80Gln)
5g.149978219T>CCA129082662SLC26A2n.799T>C
c.567T>C (p.His189=)
c.240T>C (p.His80=)
 dbSNP
5g.149978219T>GCA361705261SLC26A2n.799T>G
c.567T>G (p.His189Gln)
c.240T>G (p.His80Gln)
5g.149978219T=CA1590737460SLC26A2n.799T=
c.567T= (p.His189=)
c.240T= (p.His80=)
5g.149978219dupCA2675943468SLC26A2n.799dup
c.567dup (p.Ser190Ter)
c.240dup (p.Ser81Ter)
 ClinVar gnomAD v4
5g.149978220A=CA1590737461SLC26A2n.800A=
c.568A= (p.Ser190=)
c.241A= (p.Ser81=)
5g.149978220A>CCA361705262SLC26A2n.800A>C
c.568A>C (p.Ser190Arg)
c.241A>C (p.Ser81Arg)
5g.149978220A>GCA361705263SLC26A2n.800A>G
c.568A>G (p.Ser190Gly)
c.241A>G (p.Ser81Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149978220A>TCA3505277SLC26A2n.800A>T
c.568A>T (p.Ser190Cys)
c.241A>T (p.Ser81Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.149978221G>ACA361705264SLC26A2n.801G>A
c.569G>A (p.Ser190Asn)
c.242G>A (p.Ser81Asn)
 dbSNP gnomAD v2 gnomAD v4
5g.149978221G>CCA361705265SLC26A2n.801G>C
c.569G>C (p.Ser190Thr)
c.242G>C (p.Ser81Thr)
5g.149978221G=CA1590737462SLC26A2n.801G=
c.569G= (p.Ser190=)
c.242G= (p.Ser81=)
5g.149978221G>TCA361705266SLC26A2n.801G>T
c.569G>T (p.Ser190Ile)
c.242G>T (p.Ser81Ile)
5g.149978222T>ACA361705267SLC26A2n.802T>A
c.570T>A (p.Ser190Arg)
c.243T>A (p.Ser81Arg)
5g.149978222T>CCA447402096SLC26A2n.802T>C
c.570T>C (p.Ser190=)
c.243T>C (p.Ser81=)
 gnomAD v4
5g.149978222T>GCA361705268SLC26A2n.802T>G
c.570T>G (p.Ser190Arg)
c.243T>G (p.Ser81Arg)
5g.149978223G>ACA361705269SLC26A2n.803G>A
c.571G>A (p.Ala191Thr)
c.244G>A (p.Ala82Thr)
5g.149978223G>CCA361705270SLC26A2n.803G>C
c.571G>C (p.Ala191Pro)
c.244G>C (p.Ala82Pro)
5g.149978223G=CA1590737464SLC26A2n.803G=
c.571G= (p.Ala191=)
c.244G= (p.Ala82=)
5g.149978223G>TCA129082669SLC26A2n.803G>T
c.571G>T (p.Ala191Ser)
c.244G>T (p.Ala82Ser)
 dbSNP
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)

Number of alleles fetched