Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.73641795delCA16041084SLC17A5c.423del (p.Phe141LeufsTer19)
n.189del
c.372del (p.Phe124LeufsTer19)
c.225del (p.Phe75LeufsTer19)
c.192del (p.Phe64LeufsTer19)
c.444del (p.Phe148LeufsTer19)
 ClinVar dbSNP
6g.73641795A=CA1638223050SLC17A5c.421T= (p.Phe141=)
n.187T=
c.370T= (p.Phe124=)
c.223T= (p.Phe75=)
c.190T= (p.Phe64=)
c.442T= (p.Phe148=)
6g.73641795A>CCA364718111SLC17A5c.421T>G (p.Phe141Val)
n.187T>G
c.370T>G (p.Phe124Val)
c.223T>G (p.Phe75Val)
c.190T>G (p.Phe64Val)
c.442T>G (p.Phe148Val)
 dbSNP gnomAD v3 gnomAD v4
6g.73641795A>GCA3890534SLC17A5c.421T>C (p.Phe141Leu)
n.187T>C
c.370T>C (p.Phe124Leu)
c.223T>C (p.Phe75Leu)
c.190T>C (p.Phe64Leu)
c.442T>C (p.Phe148Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641795A>TCA364718112SLC17A5c.421T>A (p.Phe141Ile)
n.187T>A
c.370T>A (p.Phe124Ile)
c.223T>A (p.Phe75Ile)
c.190T>A (p.Phe64Ile)
c.442T>A (p.Phe148Ile)
 gnomAD v4
6g.73641796T>ACA450912155SLC17A5c.420A>T (p.Gly140=)
n.186A>T
c.369A>T (p.Gly123=)
c.222A>T (p.Gly74=)
c.189A>T (p.Gly63=)
c.441A>T (p.Gly147=)
6g.73641796T>CCA450912156SLC17A5c.420A>G (p.Gly140=)
n.186A>G
c.369A>G (p.Gly123=)
c.222A>G (p.Gly74=)
c.189A>G (p.Gly63=)
c.441A>G (p.Gly147=)
6g.73641796T>GCA450912157SLC17A5c.420A>C (p.Gly140=)
n.186A>C
c.369A>C (p.Gly123=)
c.222A>C (p.Gly74=)
c.189A>C (p.Gly63=)
c.441A>C (p.Gly147=)
6g.73641797C>ACA364718113SLC17A5c.419G>T (p.Gly140Val)
n.185G>T
c.368G>T (p.Gly123Val)
c.221G>T (p.Gly74Val)
c.188G>T (p.Gly63Val)
c.440G>T (p.Gly147Val)
6g.73641797C>GCA364718114SLC17A5c.419G>C (p.Gly140Ala)
n.185G>C
c.368G>C (p.Gly123Ala)
c.221G>C (p.Gly74Ala)
c.188G>C (p.Gly63Ala)
c.440G>C (p.Gly147Ala)
6g.73641797C>TCA364718115SLC17A5c.419G>A (p.Gly140Glu)
n.185G>A
c.368G>A (p.Gly123Glu)
c.221G>A (p.Gly74Glu)
c.188G>A (p.Gly63Glu)
c.440G>A (p.Gly147Glu)
6g.73641798C>ACA364718116SLC17A5c.418G>T (p.Gly140Ter)
n.184G>T
c.367G>T (p.Gly123Ter)
c.220G>T (p.Gly74Ter)
c.187G>T (p.Gly63Ter)
c.439G>T (p.Gly147Ter)
6g.73641798C=CA1638223053SLC17A5c.418G= (p.Gly140=)
n.184G=
c.367G= (p.Gly123=)
c.220G= (p.Gly74=)
c.187G= (p.Gly63=)
c.439G= (p.Gly147=)
6g.73641798C>GCA364718117SLC17A5c.418G>C (p.Gly140Arg)
n.184G>C
c.367G>C (p.Gly123Arg)
c.220G>C (p.Gly74Arg)
c.187G>C (p.Gly63Arg)
c.439G>C (p.Gly147Arg)
6g.73641798C>TCA3890535SLC17A5c.418G>A (p.Gly140Arg)
n.184G>A
c.367G>A (p.Gly123Arg)
c.220G>A (p.Gly74Arg)
c.187G>A (p.Gly63Arg)
c.439G>A (p.Gly147Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641799T>ACA450912158SLC17A5c.417A>T (p.Leu139=)
n.183A>T
c.366A>T (p.Leu122=)
c.219A>T (p.Leu73=)
c.186A>T (p.Leu62=)
c.438A>T (p.Leu146=)
6g.73641799T>CCA450912159SLC17A5c.417A>G (p.Leu139=)
n.183A>G
c.366A>G (p.Leu122=)
c.219A>G (p.Leu73=)
c.186A>G (p.Leu62=)
c.438A>G (p.Leu146=)
6g.73641799T>GCA450912160SLC17A5c.417A>C (p.Leu139=)
n.183A>C
c.366A>C (p.Leu122=)
c.219A>C (p.Leu73=)
c.186A>C (p.Leu62=)
c.438A>C (p.Leu146=)
6g.73641800A>CCA364718118SLC17A5c.416T>G (p.Leu139Arg)
n.182T>G
c.365T>G (p.Leu122Arg)
c.218T>G (p.Leu73Arg)
c.185T>G (p.Leu62Arg)
c.437T>G (p.Leu146Arg)
6g.73641800A>GCA364718119SLC17A5c.416T>C (p.Leu139Pro)
n.182T>C
c.365T>C (p.Leu122Pro)
c.218T>C (p.Leu73Pro)
c.185T>C (p.Leu62Pro)
c.437T>C (p.Leu146Pro)
6g.73641800A>TCA364718120SLC17A5c.416T>A (p.Leu139Gln)
n.182T>A
c.365T>A (p.Leu122Gln)
c.218T>A (p.Leu73Gln)
c.185T>A (p.Leu62Gln)
c.437T>A (p.Leu146Gln)
6g.73641801G>ACA450912161SLC17A5c.415C>T (p.Leu139=)
n.181C>T
c.364C>T (p.Leu122=)
c.217C>T (p.Leu73=)
c.184C>T (p.Leu62=)
c.436C>T (p.Leu146=)
6g.73641801G>CCA364718121SLC17A5c.415C>G (p.Leu139Val)
n.181C>G
c.364C>G (p.Leu122Val)
c.217C>G (p.Leu73Val)
c.184C>G (p.Leu62Val)
c.436C>G (p.Leu146Val)
6g.73641801G>TCA364718122SLC17A5c.415C>A (p.Leu139Ile)
n.181C>A
c.364C>A (p.Leu122Ile)
c.217C>A (p.Leu73Ile)
c.184C>A (p.Leu62Ile)
c.436C>A (p.Leu146Ile)
6g.73641802C>ACA450912162SLC17A5c.414G>T (p.Leu138=)
n.180G>T
c.363G>T (p.Leu121=)
c.216G>T (p.Leu72=)
c.183G>T (p.Leu61=)
c.435G>T (p.Leu145=)
6g.73641802C>GCA450912163SLC17A5c.414G>C (p.Leu138=)
n.180G>C
c.363G>C (p.Leu121=)
c.216G>C (p.Leu72=)
c.183G>C (p.Leu61=)
c.435G>C (p.Leu145=)
6g.73641802C>TCA450912164SLC17A5c.414G>A (p.Leu138=)
n.180G>A
c.363G>A (p.Leu121=)
c.216G>A (p.Leu72=)
c.183G>A (p.Leu61=)
c.435G>A (p.Leu145=)
6g.73641803A=CA1638223057SLC17A5c.413T= (p.Leu138=)
n.179T=
c.362T= (p.Leu121=)
c.215T= (p.Leu72=)
c.182T= (p.Leu61=)
c.434T= (p.Leu145=)
6g.73641803A>CCA364718123SLC17A5c.413T>G (p.Leu138Arg)
n.179T>G
c.362T>G (p.Leu121Arg)
c.215T>G (p.Leu72Arg)
c.182T>G (p.Leu61Arg)
c.434T>G (p.Leu145Arg)
6g.73641803A>GCA3890536SLC17A5c.413T>C (p.Leu138Pro)
n.179T>C
c.362T>C (p.Leu121Pro)
c.215T>C (p.Leu72Pro)
c.182T>C (p.Leu61Pro)
c.434T>C (p.Leu145Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641803A>TCA364718124SLC17A5c.413T>A (p.Leu138Gln)
n.179T>A
c.362T>A (p.Leu121Gln)
c.215T>A (p.Leu72Gln)
c.182T>A (p.Leu61Gln)
c.434T>A (p.Leu145Gln)
6g.73641804G>ACA450912167SLC17A5c.412C>T (p.Leu138=)
n.178C>T
c.361C>T (p.Leu121=)
c.214C>T (p.Leu72=)
c.181C>T (p.Leu61=)
c.433C>T (p.Leu145=)
6g.73641804G>CCA364718125SLC17A5c.412C>G (p.Leu138Val)
n.178C>G
c.361C>G (p.Leu121Val)
c.214C>G (p.Leu72Val)
c.181C>G (p.Leu61Val)
c.433C>G (p.Leu145Val)
 COSMIC
6g.73641804G>TCA364718126SLC17A5c.412C>A (p.Leu138Met)
n.178C>A
c.361C>A (p.Leu121Met)
c.214C>A (p.Leu72Met)
c.181C>A (p.Leu61Met)
c.433C>A (p.Leu145Met)
6g.73641805delCA2578669715SLC17A5c.411del (p.Met137IlefsTer3)
n.177del
c.360del (p.Met120IlefsTer3)
c.213del (p.Met71IlefsTer3)
c.180del (p.Met60IlefsTer3)
c.432del (p.Met144IlefsTer3)
6g.73641805C>ACA364718127SLC17A5c.411G>T (p.Met137Ile)
n.177G>T
c.360G>T (p.Met120Ile)
c.213G>T (p.Met71Ile)
c.180G>T (p.Met60Ile)
c.432G>T (p.Met144Ile)
6g.73641805C=CA1638223060SLC17A5c.411G= (p.Met137=)
n.177G=
c.360G= (p.Met120=)
c.213G= (p.Met71=)
c.180G= (p.Met60=)
c.432G= (p.Met144=)
6g.73641805C>GCA364718128SLC17A5c.411G>C (p.Met137Ile)
n.177G>C
c.360G>C (p.Met120Ile)
c.213G>C (p.Met71Ile)
c.180G>C (p.Met60Ile)
c.432G>C (p.Met144Ile)
6g.73641805C>TCA140975664SLC17A5c.411G>A (p.Met137Ile)
n.177G>A
c.360G>A (p.Met120Ile)
c.213G>A (p.Met71Ile)
c.180G>A (p.Met60Ile)
c.432G>A (p.Met144Ile)
 dbSNP
6g.73641806A>CCA364718129SLC17A5c.410T>G (p.Met137Arg)
n.176T>G
c.359T>G (p.Met120Arg)
c.212T>G (p.Met71Arg)
c.179T>G (p.Met60Arg)
c.431T>G (p.Met144Arg)
6g.73641806A>GCA364718130SLC17A5c.410T>C (p.Met137Thr)
n.176T>C
c.359T>C (p.Met120Thr)
c.212T>C (p.Met71Thr)
c.179T>C (p.Met60Thr)
c.431T>C (p.Met144Thr)
6g.73641806A>TCA364718131SLC17A5c.410T>A (p.Met137Lys)
n.176T>A
c.359T>A (p.Met120Lys)
c.212T>A (p.Met71Lys)
c.179T>A (p.Met60Lys)
c.431T>A (p.Met144Lys)
6g.73641806_73641807delinsATCA1638223063SLC17A5c.409_410delinsAT (p.Met137=)
n.175_176delinsAT
c.358_359delinsAT (p.Met120=)
c.211_212delinsAT (p.Met71=)
c.178_179delinsAT (p.Met60=)
c.430_431delinsAT (p.Met144=)
6g.73641807T>ACA364718132SLC17A5c.409A>T (p.Met137Leu)
n.175A>T
c.358A>T (p.Met120Leu)
c.211A>T (p.Met71Leu)
c.178A>T (p.Met60Leu)
c.430A>T (p.Met144Leu)
6g.73641807T>CCA364718133SLC17A5c.409A>G (p.Met137Val)
n.175A>G
c.358A>G (p.Met120Val)
c.211A>G (p.Met71Val)
c.178A>G (p.Met60Val)
c.430A>G (p.Met144Val)
 gnomAD v4
6g.73641807T>GCA364718134SLC17A5c.409A>C (p.Met137Leu)
n.175A>C
c.358A>C (p.Met120Leu)
c.211A>C (p.Met71Leu)
c.178A>C (p.Met60Leu)
c.430A>C (p.Met144Leu)
6g.73641810delCA275529SLC17A5c.409del (p.Met137CysfsTer3)
n.175del
c.358del (p.Met120CysfsTer3)
c.211del (p.Met71CysfsTer3)
c.178del (p.Met60CysfsTer3)
c.430del (p.Met144CysfsTer3)
 ClinVar dbSNP gnomAD v4
6g.73641808T>ACA364718135SLC17A5c.408A>T (p.Lys136Asn)
n.174A>T
c.357A>T (p.Lys119Asn)
c.210A>T (p.Lys70Asn)
c.177A>T (p.Lys59Asn)
c.429A>T (p.Lys143Asn)
6g.73641808T>CCA450912168SLC17A5c.408A>G (p.Lys136=)
n.174A>G
c.357A>G (p.Lys119=)
c.210A>G (p.Lys70=)
c.177A>G (p.Lys59=)
c.429A>G (p.Lys143=)
 ClinVar
6g.73641808T>GCA364718136SLC17A5c.408A>C (p.Lys136Asn)
n.174A>C
c.357A>C (p.Lys119Asn)
c.210A>C (p.Lys70Asn)
c.177A>C (p.Lys59Asn)
c.429A>C (p.Lys143Asn)
6g.73641809T>ACA364718137SLC17A5c.407A>T (p.Lys136Ile)
n.173A>T
c.356A>T (p.Lys119Ile)
c.209A>T (p.Lys70Ile)
c.176A>T (p.Lys59Ile)
c.428A>T (p.Lys143Ile)
6g.73641809T>CCA364718138SLC17A5c.407A>G (p.Lys136Arg)
n.173A>G
c.356A>G (p.Lys119Arg)
c.209A>G (p.Lys70Arg)
c.176A>G (p.Lys59Arg)
c.428A>G (p.Lys143Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.73641809T>GCA364718139SLC17A5c.407A>C (p.Lys136Thr)
n.173A>C
c.356A>C (p.Lys119Thr)
c.209A>C (p.Lys70Thr)
c.176A>C (p.Lys59Thr)
c.428A>C (p.Lys143Thr)
 gnomAD v4
6g.73641809T=CA1638223073SLC17A5c.407A= (p.Lys136=)
n.173A=
c.356A= (p.Lys119=)
c.209A= (p.Lys70=)
c.176A= (p.Lys59=)
c.428A= (p.Lys143=)
6g.73641810T>ACA140975677SLC17A5c.406A>T (p.Lys136Ter)
n.172A>T
c.355A>T (p.Lys119Ter)
c.208A>T (p.Lys70Ter)
c.175A>T (p.Lys59Ter)
c.427A>T (p.Lys143Ter)
 dbSNP gnomAD v4
6g.73641810T>CCA342129SLC17A5c.406A>G (p.Lys136Glu)
n.172A>G
c.355A>G (p.Lys119Glu)
c.208A>G (p.Lys70Glu)
c.175A>G (p.Lys59Glu)
c.427A>G (p.Lys143Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641810T>GCA364718140SLC17A5c.406A>C (p.Lys136Gln)
n.172A>C
c.355A>C (p.Lys119Gln)
c.208A>C (p.Lys70Gln)
c.175A>C (p.Lys59Gln)
c.427A>C (p.Lys143Gln)
6g.73641810T=CA1638223079SLC17A5c.406A= (p.Lys136=)
n.172A=
c.355A= (p.Lys119=)
c.208A= (p.Lys70=)
c.175A= (p.Lys59=)
c.427A= (p.Lys143=)
6g.73641811C>ACA450912169SLC17A5c.405G>T (p.Gly135=)
n.171G>T
c.354G>T (p.Gly118=)
c.207G>T (p.Gly69=)
c.174G>T (p.Gly58=)
c.426G>T (p.Gly142=)
 gnomAD v4
6g.73641811C=CA1638223087SLC17A5c.405G= (p.Gly135=)
n.171G=
c.354G= (p.Gly118=)
c.207G= (p.Gly69=)
c.174G= (p.Gly58=)
c.426G= (p.Gly142=)
6g.73641811C>GCA450912170SLC17A5c.405G>C (p.Gly135=)
n.171G>C
c.354G>C (p.Gly118=)
c.207G>C (p.Gly69=)
c.174G>C (p.Gly58=)
c.426G>C (p.Gly142=)
6g.73641811C>TCA3890537SLC17A5c.405G>A (p.Gly135=)
n.171G>A
c.354G>A (p.Gly118=)
c.207G>A (p.Gly69=)
c.174G>A (p.Gly58=)
c.426G>A (p.Gly142=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641816dupCA2679404899SLC17A5c.405dup (p.Lys136GlufsTer?)
n.171dup
c.354dup (p.Lys119GlufsTer?)
c.207dup (p.Lys70GlufsTer?)
c.174dup (p.Lys59GlufsTer?)
c.426dup (p.Lys143GlufsTer?)
 gnomAD v4
6g.73641812C>ACA364718141SLC17A5c.404G>T (p.Gly135Val)
n.170G>T
c.353G>T (p.Gly118Val)
c.206G>T (p.Gly69Val)
c.173G>T (p.Gly58Val)
c.425G>T (p.Gly142Val)
6g.73641812C=CA1638223090SLC17A5c.404G= (p.Gly135=)
n.170G=
c.353G= (p.Gly118=)
c.206G= (p.Gly69=)
c.173G= (p.Gly58=)
c.425G= (p.Gly142=)
6g.73641812C>GCA364718142SLC17A5c.404G>C (p.Gly135Ala)
n.170G>C
c.353G>C (p.Gly118Ala)
c.206G>C (p.Gly69Ala)
c.173G>C (p.Gly58Ala)
c.425G>C (p.Gly142Ala)
6g.73641812C>TCA140975701SLC17A5c.404G>A (p.Gly135Glu)
n.170G>A
c.353G>A (p.Gly118Glu)
c.206G>A (p.Gly69Glu)
c.173G>A (p.Gly58Glu)
c.425G>A (p.Gly142Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641813C>ACA364718143SLC17A5c.403G>T (p.Gly135Trp)
n.169G>T
c.352G>T (p.Gly118Trp)
c.205G>T (p.Gly69Trp)
c.172G>T (p.Gly58Trp)
c.424G>T (p.Gly142Trp)
6g.73641813C>GCA364718144SLC17A5c.403G>C (p.Gly135Arg)
n.169G>C
c.352G>C (p.Gly118Arg)
c.205G>C (p.Gly69Arg)
c.172G>C (p.Gly58Arg)
c.424G>C (p.Gly142Arg)
6g.73641813C>TCA364718145SLC17A5c.403G>A (p.Gly135Arg)
n.169G>A
c.352G>A (p.Gly118Arg)
c.205G>A (p.Gly69Arg)
c.172G>A (p.Gly58Arg)
c.424G>A (p.Gly142Arg)
 gnomAD v4
6g.73641814C>ACA450912171SLC17A5c.402G>T (p.Gly134=)
n.168G>T
c.351G>T (p.Gly117=)
c.204G>T (p.Gly68=)
c.171G>T (p.Gly57=)
c.423G>T (p.Gly141=)
 gnomAD v4
6g.73641814C>GCA450912172SLC17A5c.402G>C (p.Gly134=)
n.168G>C
c.351G>C (p.Gly117=)
c.204G>C (p.Gly68=)
c.171G>C (p.Gly57=)
c.423G>C (p.Gly141=)
6g.73641814C>TCA450912173SLC17A5c.402G>A (p.Gly134=)
n.168G>A
c.351G>A (p.Gly117=)
c.204G>A (p.Gly68=)
c.171G>A (p.Gly57=)
c.423G>A (p.Gly141=)
 gnomAD v4
6g.73641814_73641817delCA913111549SLC17A5c.399_402del (p.Ile133MetfsTer6)
n.165_168del
c.348_351del (p.Ile116MetfsTer6)
c.201_204del (p.Ile67MetfsTer6)
c.168_171del (p.Ile56MetfsTer6)
c.420_423del (p.Ile140MetfsTer6)
6g.73641815C>ACA364718146SLC17A5c.401G>T (p.Gly134Val)
n.167G>T
c.350G>T (p.Gly117Val)
c.203G>T (p.Gly68Val)
c.170G>T (p.Gly57Val)
c.422G>T (p.Gly141Val)
 ClinVar gnomAD v4
6g.73641815C>GCA364718148SLC17A5c.401G>C (p.Gly134Ala)
n.167G>C
c.350G>C (p.Gly117Ala)
c.203G>C (p.Gly68Ala)
c.170G>C (p.Gly57Ala)
c.422G>C (p.Gly141Ala)
 gnomAD v4
6g.73641815C>TCA364718147SLC17A5c.401G>A (p.Gly134Glu)
n.167G>A
c.350G>A (p.Gly117Glu)
c.203G>A (p.Gly68Glu)
c.170G>A (p.Gly57Glu)
c.422G>A (p.Gly141Glu)
6g.73641816C>ACA364718149SLC17A5c.400G>T (p.Gly134Trp)
n.166G>T
c.349G>T (p.Gly117Trp)
c.202G>T (p.Gly68Trp)
c.169G>T (p.Gly57Trp)
c.421G>T (p.Gly141Trp)
6g.73641816C=CA1638223093SLC17A5c.400G= (p.Gly134=)
n.166G=
c.349G= (p.Gly117=)
c.202G= (p.Gly68=)
c.169G= (p.Gly57=)
c.421G= (p.Gly141=)
6g.73641816C>GCA364718150SLC17A5c.400G>C (p.Gly134Arg)
n.166G>C
c.349G>C (p.Gly117Arg)
c.202G>C (p.Gly68Arg)
c.169G>C (p.Gly57Arg)
c.421G>C (p.Gly141Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.73641816C>TCA364718151SLC17A5c.400G>A (p.Gly134Arg)
n.166G>A
c.349G>A (p.Gly117Arg)
c.202G>A (p.Gly68Arg)
c.169G>A (p.Gly57Arg)
c.421G>A (p.Gly141Arg)
 gnomAD v4
6g.73641817T>ACA450912174SLC17A5c.399A>T (p.Ile133=)
n.165A>T
c.348A>T (p.Ile116=)
c.201A>T (p.Ile67=)
c.168A>T (p.Ile56=)
c.420A>T (p.Ile140=)
6g.73641817T>CCA364718152SLC17A5c.399A>G (p.Ile133Met)
n.165A>G
c.348A>G (p.Ile116Met)
c.201A>G (p.Ile67Met)
c.168A>G (p.Ile56Met)
c.420A>G (p.Ile140Met)
6g.73641817T>GCA450912175SLC17A5c.399A>C (p.Ile133=)
n.165A>C
c.348A>C (p.Ile116=)
c.201A>C (p.Ile67=)
c.168A>C (p.Ile56=)
c.420A>C (p.Ile140=)
6g.73641818A>CCA364718153SLC17A5c.398T>G (p.Ile133Arg)
n.164T>G
c.347T>G (p.Ile116Arg)
c.200T>G (p.Ile67Arg)
c.167T>G (p.Ile56Arg)
c.419T>G (p.Ile140Arg)
6g.73641818A>GCA364718154SLC17A5c.398T>C (p.Ile133Thr)
n.164T>C
c.347T>C (p.Ile116Thr)
c.200T>C (p.Ile67Thr)
c.167T>C (p.Ile56Thr)
c.419T>C (p.Ile140Thr)
 gnomAD v4
6g.73641818A>TCA364718155SLC17A5c.398T>A (p.Ile133Lys)
n.164T>A
c.347T>A (p.Ile116Lys)
c.200T>A (p.Ile67Lys)
c.167T>A (p.Ile56Lys)
c.419T>A (p.Ile140Lys)
6g.73641819T>ACA364718156SLC17A5c.397A>T (p.Ile133Leu)
n.163A>T
c.346A>T (p.Ile116Leu)
c.199A>T (p.Ile67Leu)
c.166A>T (p.Ile56Leu)
c.418A>T (p.Ile140Leu)
6g.73641819T>CCA364718157SLC17A5c.397A>G (p.Ile133Val)
n.163A>G
c.346A>G (p.Ile116Val)
c.199A>G (p.Ile67Val)
c.166A>G (p.Ile56Val)
c.418A>G (p.Ile140Val)
6g.73641819T>GCA364718158SLC17A5c.397A>C (p.Ile133Leu)
n.163A>C
c.346A>C (p.Ile116Leu)
c.199A>C (p.Ile67Leu)
c.166A>C (p.Ile56Leu)
c.418A>C (p.Ile140Leu)
6g.73641820T>ACA364718159SLC17A5c.396A>T (p.Lys132Asn)
n.162A>T
c.345A>T (p.Lys115Asn)
c.198A>T (p.Lys66Asn)
c.165A>T (p.Lys55Asn)
c.417A>T (p.Lys139Asn)
6g.73641820T>CCA3890538SLC17A5c.396A>G (p.Lys132=)
n.162A>G
c.345A>G (p.Lys115=)
c.198A>G (p.Lys66=)
c.165A>G (p.Lys55=)
c.417A>G (p.Lys139=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641820T>GCA364718160SLC17A5c.396A>C (p.Lys132Asn)
n.162A>C
c.345A>C (p.Lys115Asn)
c.198A>C (p.Lys66Asn)
c.165A>C (p.Lys55Asn)
c.417A>C (p.Lys139Asn)
6g.73641820T=CA1638223096SLC17A5c.396A= (p.Lys132=)
n.162A=
c.345A= (p.Lys115=)
c.198A= (p.Lys66=)
c.165A= (p.Lys55=)
c.417A= (p.Lys139=)
6g.73641821T>ACA364718163SLC17A5c.395A>T (p.Lys132Ile)
n.161A>T
c.344A>T (p.Lys115Ile)
c.197A>T (p.Lys66Ile)
c.164A>T (p.Lys55Ile)
c.416A>T (p.Lys139Ile)
6g.73641821T>CCA364718162SLC17A5c.395A>G (p.Lys132Arg)
n.161A>G
c.344A>G (p.Lys115Arg)
c.197A>G (p.Lys66Arg)
c.164A>G (p.Lys55Arg)
c.416A>G (p.Lys139Arg)
6g.73641821T>GCA364718161SLC17A5c.395A>C (p.Lys132Thr)
n.161A>C
c.344A>C (p.Lys115Thr)
c.197A>C (p.Lys66Thr)
c.164A>C (p.Lys55Thr)
c.416A>C (p.Lys139Thr)
6g.73641822T>ACA364718164SLC17A5c.394A>T (p.Lys132Ter)
n.160A>T
c.343A>T (p.Lys115Ter)
c.196A>T (p.Lys66Ter)
c.163A>T (p.Lys55Ter)
c.415A>T (p.Lys139Ter)
6g.73641822T>CCA364718165SLC17A5c.394A>G (p.Lys132Glu)
n.160A>G
c.343A>G (p.Lys115Glu)
c.196A>G (p.Lys66Glu)
c.163A>G (p.Lys55Glu)
c.415A>G (p.Lys139Glu)
6g.73641822T>GCA3890539SLC17A5c.394A>C (p.Lys132Gln)
n.160A>C
c.343A>C (p.Lys115Gln)
c.196A>C (p.Lys66Gln)
c.163A>C (p.Lys55Gln)
c.415A>C (p.Lys139Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641822T=CA1638223099SLC17A5c.394A= (p.Lys132=)
n.160A=
c.343A= (p.Lys115=)
c.196A= (p.Lys66=)
c.163A= (p.Lys55=)
c.415A= (p.Lys139=)
6g.73641823G>ACA450912176SLC17A5c.393C>T (p.Ser131=)
n.159C>T
c.342C>T (p.Ser114=)
c.195C>T (p.Ser65=)
c.162C>T (p.Ser54=)
c.414C>T (p.Ser138=)
6g.73641823G>CCA364718166SLC17A5c.393C>G (p.Ser131Arg)
n.159C>G
c.342C>G (p.Ser114Arg)
c.195C>G (p.Ser65Arg)
c.162C>G (p.Ser54Arg)
c.414C>G (p.Ser138Arg)
 gnomAD v4
6g.73641823G>TCA364718167SLC17A5c.393C>A (p.Ser131Arg)
n.159C>A
c.342C>A (p.Ser114Arg)
c.195C>A (p.Ser65Arg)
c.162C>A (p.Ser54Arg)
c.414C>A (p.Ser138Arg)
 gnomAD v4
6g.73641824C>ACA364718168SLC17A5c.392G>T (p.Ser131Ile)
n.158G>T
c.341G>T (p.Ser114Ile)
c.194G>T (p.Ser65Ile)
c.161G>T (p.Ser54Ile)
c.413G>T (p.Ser138Ile)
6g.73641824C>GCA364718169SLC17A5c.392G>C (p.Ser131Thr)
n.158G>C
c.341G>C (p.Ser114Thr)
c.194G>C (p.Ser65Thr)
c.161G>C (p.Ser54Thr)
c.413G>C (p.Ser138Thr)
6g.73641824C>TCA364718170SLC17A5c.392G>A (p.Ser131Asn)
n.158G>A
c.341G>A (p.Ser114Asn)
c.194G>A (p.Ser65Asn)
c.161G>A (p.Ser54Asn)
c.413G>A (p.Ser138Asn)
 COSMIC
6g.73641825T>ACA364718171SLC17A5c.391A>T (p.Ser131Cys)
n.157A>T
c.340A>T (p.Ser114Cys)
c.193A>T (p.Ser65Cys)
c.160A>T (p.Ser54Cys)
c.412A>T (p.Ser138Cys)
6g.73641825T>CCA364718172SLC17A5c.391A>G (p.Ser131Gly)
n.157A>G
c.340A>G (p.Ser114Gly)
c.193A>G (p.Ser65Gly)
c.160A>G (p.Ser54Gly)
c.412A>G (p.Ser138Gly)
6g.73641825T>GCA364718173SLC17A5c.391A>C (p.Ser131Arg)
n.157A>C
c.340A>C (p.Ser114Arg)
c.193A>C (p.Ser65Arg)
c.160A>C (p.Ser54Arg)
c.412A>C (p.Ser138Arg)
6g.73641826G>ACA450912179SLC17A5c.390C>T (p.Ala130=)
n.156C>T
c.339C>T (p.Ala113=)
c.192C>T (p.Ala64=)
c.159C>T (p.Ala53=)
c.411C>T (p.Ala137=)
6g.73641826G>CCA450912177SLC17A5c.390C>G (p.Ala130=)
n.156C>G
c.339C>G (p.Ala113=)
c.192C>G (p.Ala64=)
c.159C>G (p.Ala53=)
c.411C>G (p.Ala137=)
6g.73641826G>TCA450912178SLC17A5c.390C>A (p.Ala130=)
n.156C>A
c.339C>A (p.Ala113=)
c.192C>A (p.Ala64=)
c.159C>A (p.Ala53=)
c.411C>A (p.Ala137=)
6g.73641827delCA2580075800SLC17A5c.390del (p.Ser131AlafsTer3)
n.156del
c.339del (p.Ser114AlafsTer3)
c.192del (p.Ser65AlafsTer3)
c.159del (p.Ser54AlafsTer3)
c.411del (p.Ser138AlafsTer3)
 ClinVar
6g.73641827G>ACA364718174SLC17A5c.389C>T (p.Ala130Val)
n.155C>T
c.338C>T (p.Ala113Val)
c.191C>T (p.Ala64Val)
c.158C>T (p.Ala53Val)
c.410C>T (p.Ala137Val)
6g.73641827G>CCA364718175SLC17A5c.389C>G (p.Ala130Gly)
n.155C>G
c.338C>G (p.Ala113Gly)
c.191C>G (p.Ala64Gly)
c.158C>G (p.Ala53Gly)
c.410C>G (p.Ala137Gly)
6g.73641827G>TCA364718176SLC17A5c.389C>A (p.Ala130Asp)
n.155C>A
c.338C>A (p.Ala113Asp)
c.191C>A (p.Ala64Asp)
c.158C>A (p.Ala53Asp)
c.410C>A (p.Ala137Asp)
6g.73641828C>ACA364718177SLC17A5c.388G>T (p.Ala130Ser)
n.154G>T
c.337G>T (p.Ala113Ser)
c.190G>T (p.Ala64Ser)
c.157G>T (p.Ala53Ser)
c.409G>T (p.Ala137Ser)
6g.73641828C=CA1638223102SLC17A5c.388G= (p.Ala130=)
n.154G=
c.337G= (p.Ala113=)
c.190G= (p.Ala64=)
c.157G= (p.Ala53=)
c.409G= (p.Ala137=)
6g.73641828C>GCA364718178SLC17A5c.388G>C (p.Ala130Pro)
n.154G>C
c.337G>C (p.Ala113Pro)
c.190G>C (p.Ala64Pro)
c.157G>C (p.Ala53Pro)
c.409G>C (p.Ala137Pro)
6g.73641828C>TCA140975719SLC17A5c.388G>A (p.Ala130Thr)
n.154G>A
c.337G>A (p.Ala113Thr)
c.190G>A (p.Ala64Thr)
c.157G>A (p.Ala53Thr)
c.409G>A (p.Ala137Thr)
 ClinVar dbSNP
6g.73641829A=CA1638223106SLC17A5c.387T= (p.Val129=)
n.153T=
c.336T= (p.Val112=)
c.189T= (p.Val63=)
c.156T= (p.Val52=)
c.408T= (p.Val136=)
6g.73641829A>CCA450912180SLC17A5c.387T>G (p.Val129=)
n.153T>G
c.336T>G (p.Val112=)
c.189T>G (p.Val63=)
c.156T>G (p.Val52=)
c.408T>G (p.Val136=)
6g.73641829A>GCA3890540SLC17A5c.387T>C (p.Val129=)
n.153T>C
c.336T>C (p.Val112=)
c.189T>C (p.Val63=)
c.156T>C (p.Val52=)
c.408T>C (p.Val136=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641829A>TCA450912181SLC17A5c.387T>A (p.Val129=)
n.153T>A
c.336T>A (p.Val112=)
c.189T>A (p.Val63=)
c.156T>A (p.Val52=)
c.408T>A (p.Val136=)
6g.73641830A>CCA364718179SLC17A5c.386T>G (p.Val129Gly)
n.152T>G
c.335T>G (p.Val112Gly)
c.188T>G (p.Val63Gly)
c.155T>G (p.Val52Gly)
c.407T>G (p.Val136Gly)
6g.73641830A>GCA364718180SLC17A5c.386T>C (p.Val129Ala)
n.152T>C
c.335T>C (p.Val112Ala)
c.188T>C (p.Val63Ala)
c.155T>C (p.Val52Ala)
c.407T>C (p.Val136Ala)
6g.73641830A>TCA364718181SLC17A5c.386T>A (p.Val129Asp)
n.152T>A
c.335T>A (p.Val112Asp)
c.188T>A (p.Val63Asp)
c.155T>A (p.Val52Asp)
c.407T>A (p.Val136Asp)
6g.73641831C>ACA364718182SLC17A5c.385G>T (p.Val129Phe)
n.151G>T
c.334G>T (p.Val112Phe)
c.187G>T (p.Val63Phe)
c.154G>T (p.Val52Phe)
c.406G>T (p.Val136Phe)
6g.73641831C>GCA364718183SLC17A5c.385G>C (p.Val129Leu)
n.151G>C
c.334G>C (p.Val112Leu)
c.187G>C (p.Val63Leu)
c.154G>C (p.Val52Leu)
c.406G>C (p.Val136Leu)
6g.73641831C>TCA364718184SLC17A5c.385G>A (p.Val129Ile)
n.151G>A
c.334G>A (p.Val112Ile)
c.187G>A (p.Val63Ile)
c.154G>A (p.Val52Ile)
c.406G>A (p.Val136Ile)
6g.73641832A=CA1638223111SLC17A5c.384T= (p.Tyr128=)
n.150T=
c.333T= (p.Tyr111=)
c.186T= (p.Tyr62=)
c.153T= (p.Tyr51=)
c.405T= (p.Tyr135=)
6g.73641832A>CCA364718185SLC17A5c.384T>G (p.Tyr128Ter)
n.150T>G
c.333T>G (p.Tyr111Ter)
c.186T>G (p.Tyr62Ter)
c.153T>G (p.Tyr51Ter)
c.405T>G (p.Tyr135Ter)
6g.73641832A>GCA450912182SLC17A5c.384T>C (p.Tyr128=)
n.150T>C
c.333T>C (p.Tyr111=)
c.186T>C (p.Tyr62=)
c.153T>C (p.Tyr51=)
c.405T>C (p.Tyr135=)
6g.73641832A>TCA16041085SLC17A5c.384T>A (p.Tyr128Ter)
n.150T>A
c.333T>A (p.Tyr111Ter)
c.186T>A (p.Tyr62Ter)
c.153T>A (p.Tyr51Ter)
c.405T>A (p.Tyr135Ter)
 ClinVar dbSNP gnomAD v4
6g.73641833T>ACA364718186SLC17A5c.383A>T (p.Tyr128Phe)
n.149A>T
c.332A>T (p.Tyr111Phe)
c.185A>T (p.Tyr62Phe)
c.152A>T (p.Tyr51Phe)
c.404A>T (p.Tyr135Phe)
6g.73641833T>CCA364718187SLC17A5c.383A>G (p.Tyr128Cys)
n.149A>G
c.332A>G (p.Tyr111Cys)
c.185A>G (p.Tyr62Cys)
c.152A>G (p.Tyr51Cys)
c.404A>G (p.Tyr135Cys)
6g.73641833T>GCA364718188SLC17A5c.383A>C (p.Tyr128Ser)
n.149A>C
c.332A>C (p.Tyr111Ser)
c.185A>C (p.Tyr62Ser)
c.152A>C (p.Tyr51Ser)
c.404A>C (p.Tyr135Ser)
6g.73641834A>CCA364718191SLC17A5c.382T>G (p.Tyr128Asp)
n.148T>G
c.331T>G (p.Tyr111Asp)
c.184T>G (p.Tyr62Asp)
c.151T>G (p.Tyr51Asp)
c.403T>G (p.Tyr135Asp)
6g.73641834A>GCA364718190SLC17A5c.382T>C (p.Tyr128His)
n.148T>C
c.331T>C (p.Tyr111His)
c.184T>C (p.Tyr62His)
c.151T>C (p.Tyr51His)
c.403T>C (p.Tyr135His)
6g.73641834A>TCA364718189SLC17A5c.382T>A (p.Tyr128Asn)
n.148T>A
c.331T>A (p.Tyr111Asn)
c.184T>A (p.Tyr62Asn)
c.151T>A (p.Tyr51Asn)
c.403T>A (p.Tyr135Asn)
6g.73641835T>ACA450912183SLC17A5c.381A>T (p.Gly127=)
n.147A>T
c.330A>T (p.Gly110=)
c.183A>T (p.Gly61=)
c.150A>T (p.Gly50=)
c.402A>T (p.Gly134=)
 gnomAD v4
6g.73641835T>CCA450912184SLC17A5c.381A>G (p.Gly127=)
n.147A>G
c.330A>G (p.Gly110=)
c.183A>G (p.Gly61=)
c.150A>G (p.Gly50=)
c.402A>G (p.Gly134=)
 gnomAD v4
6g.73641835T>GCA450912185SLC17A5c.381A>C (p.Gly127=)
n.147A>C
c.330A>C (p.Gly110=)
c.183A>C (p.Gly61=)
c.150A>C (p.Gly50=)
c.402A>C (p.Gly134=)
6g.73641836C>ACA364718192SLC17A5c.380G>T (p.Gly127Val)
n.146G>T
c.329G>T (p.Gly110Val)
c.182G>T (p.Gly61Val)
c.149G>T (p.Gly50Val)
c.401G>T (p.Gly134Val)
6g.73641836C>GCA364718193SLC17A5c.380G>C (p.Gly127Ala)
n.146G>C
c.329G>C (p.Gly110Ala)
c.182G>C (p.Gly61Ala)
c.149G>C (p.Gly50Ala)
c.401G>C (p.Gly134Ala)
6g.73641836C>TCA364718194SLC17A5c.380G>A (p.Gly127Glu)
n.146G>A
c.329G>A (p.Gly110Glu)
c.182G>A (p.Gly61Glu)
c.149G>A (p.Gly50Glu)
c.401G>A (p.Gly134Glu)
6g.73641837C>ACA364718195SLC17A5c.379G>T (p.Gly127Ter)
n.145G>T
c.328G>T (p.Gly110Ter)
c.181G>T (p.Gly61Ter)
c.148G>T (p.Gly50Ter)
c.400G>T (p.Gly134Ter)
6g.73641837C>GCA364718196SLC17A5c.379G>C (p.Gly127Arg)
n.145G>C
c.328G>C (p.Gly110Arg)
c.181G>C (p.Gly61Arg)
c.148G>C (p.Gly50Arg)
c.400G>C (p.Gly134Arg)
6g.73641837C>TCA364718197SLC17A5c.379G>A (p.Gly127Arg)
n.145G>A
c.328G>A (p.Gly110Arg)
c.181G>A (p.Gly61Arg)
c.148G>A (p.Gly50Arg)
c.400G>A (p.Gly134Arg)
6g.73641838T>ACA450912186SLC17A5c.378A>T (p.Gly126=)
n.144A>T
c.327A>T (p.Gly109=)
c.180A>T (p.Gly60=)
c.147A>T (p.Gly49=)
c.399A>T (p.Gly133=)
6g.73641838T>CCA450912187SLC17A5c.378A>G (p.Gly126=)
n.144A>G
c.327A>G (p.Gly109=)
c.180A>G (p.Gly60=)
c.147A>G (p.Gly49=)
c.399A>G (p.Gly133=)
6g.73641838T>GCA450912188SLC17A5c.378A>C (p.Gly126=)
n.144A>C
c.327A>C (p.Gly109=)
c.180A>C (p.Gly60=)
c.147A>C (p.Gly49=)
c.399A>C (p.Gly133=)
6g.73641839C>ACA364718198SLC17A5c.377G>T (p.Gly126Val)
n.143G>T
c.326G>T (p.Gly109Val)
c.179G>T (p.Gly60Val)
c.146G>T (p.Gly49Val)
c.398G>T (p.Gly133Val)
6g.73641839C>GCA364718199SLC17A5c.377G>C (p.Gly126Ala)
n.143G>C
c.326G>C (p.Gly109Ala)
c.179G>C (p.Gly60Ala)
c.146G>C (p.Gly49Ala)
c.398G>C (p.Gly133Ala)
6g.73641839C>TCA364718200SLC17A5c.377G>A (p.Gly126Glu)
n.143G>A
c.326G>A (p.Gly109Glu)
c.179G>A (p.Gly60Glu)
c.146G>A (p.Gly49Glu)
c.398G>A (p.Gly133Glu)
6g.73641840C>ACA364718201SLC17A5c.376G>T (p.Gly126Ter)
n.142G>T
c.325G>T (p.Gly109Ter)
c.178G>T (p.Gly60Ter)
c.145G>T (p.Gly49Ter)
c.397G>T (p.Gly133Ter)
6g.73641840C>GCA364718202SLC17A5c.376G>C (p.Gly126Arg)
n.142G>C
c.325G>C (p.Gly109Arg)
c.178G>C (p.Gly60Arg)
c.145G>C (p.Gly49Arg)
c.397G>C (p.Gly133Arg)
6g.73641840C>TCA364718203SLC17A5c.376G>A (p.Gly126Arg)
n.142G>A
c.325G>A (p.Gly109Arg)
c.178G>A (p.Gly60Arg)
c.145G>A (p.Gly49Arg)
c.397G>A (p.Gly133Arg)
6g.73641841A>CCA450912189SLC17A5c.375T>G (p.Pro125=)
n.141T>G
c.324T>G (p.Pro108=)
c.177T>G (p.Pro59=)
c.144T>G (p.Pro48=)
c.396T>G (p.Pro132=)
6g.73641841A>GCA450912190SLC17A5c.375T>C (p.Pro125=)
n.141T>C
c.324T>C (p.Pro108=)
c.177T>C (p.Pro59=)
c.144T>C (p.Pro48=)
c.396T>C (p.Pro132=)
6g.73641841A>TCA450912191SLC17A5c.375T>A (p.Pro125=)
n.141T>A
c.324T>A (p.Pro108=)
c.177T>A (p.Pro59=)
c.144T>A (p.Pro48=)
c.396T>A (p.Pro132=)
6g.73641842G>ACA364718206SLC17A5c.374C>T (p.Pro125Leu)
n.140C>T
c.323C>T (p.Pro108Leu)
c.176C>T (p.Pro59Leu)
c.143C>T (p.Pro48Leu)
c.395C>T (p.Pro132Leu)
6g.73641842G>CCA364718204SLC17A5c.374C>G (p.Pro125Arg)
n.140C>G
c.323C>G (p.Pro108Arg)
c.176C>G (p.Pro59Arg)
c.143C>G (p.Pro48Arg)
c.395C>G (p.Pro132Arg)
6g.73641842G>TCA364718205SLC17A5c.374C>A (p.Pro125His)
n.140C>A
c.323C>A (p.Pro108His)
c.176C>A (p.Pro59His)
c.143C>A (p.Pro48His)
c.395C>A (p.Pro132His)
6g.73641843G>ACA3890541SLC17A5c.373C>T (p.Pro125Ser)
n.139C>T
c.322C>T (p.Pro108Ser)
c.175C>T (p.Pro59Ser)
c.142C>T (p.Pro48Ser)
c.394C>T (p.Pro132Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.73641843G>CCA364718207SLC17A5c.373C>G (p.Pro125Ala)
n.139C>G
c.322C>G (p.Pro108Ala)
c.175C>G (p.Pro59Ala)
c.142C>G (p.Pro48Ala)
c.394C>G (p.Pro132Ala)
6g.73641843G=CA1638223119SLC17A5c.373C= (p.Pro125=)
n.139C=
c.322C= (p.Pro108=)
c.175C= (p.Pro59=)
c.142C= (p.Pro48=)
c.394C= (p.Pro132=)
6g.73641843G>TCA364718208SLC17A5c.373C>A (p.Pro125Thr)
n.139C>A
c.322C>A (p.Pro108Thr)
c.175C>A (p.Pro59Thr)
c.142C>A (p.Pro48Thr)
c.394C>A (p.Pro132Thr)
6g.73641844A>CCA364718209SLC17A5c.372T>G (p.Ile124Met)
n.138T>G
c.321T>G (p.Ile107Met)
c.174T>G (p.Ile58Met)
c.141T>G (p.Ile47Met)
c.393T>G (p.Ile131Met)
6g.73641844A>GCA450912192SLC17A5c.372T>C (p.Ile124=)
n.138T>C
c.321T>C (p.Ile107=)
c.174T>C (p.Ile58=)
c.141T>C (p.Ile47=)
c.393T>C (p.Ile131=)
6g.73641844A>TCA450912193SLC17A5c.372T>A (p.Ile124=)
n.138T>A
c.321T>A (p.Ile107=)
c.174T>A (p.Ile58=)
c.141T>A (p.Ile47=)
c.393T>A (p.Ile131=)
6g.73641845A>CCA364718210SLC17A5c.371T>G (p.Ile124Ser)
n.137T>G
c.320T>G (p.Ile107Ser)
c.173T>G (p.Ile58Ser)
c.140T>G (p.Ile47Ser)
c.392T>G (p.Ile131Ser)
6g.73641845A>GCA364718211SLC17A5c.371T>C (p.Ile124Thr)
n.137T>C
c.320T>C (p.Ile107Thr)
c.173T>C (p.Ile58Thr)
c.140T>C (p.Ile47Thr)
c.392T>C (p.Ile131Thr)
6g.73641845A>TCA364718212SLC17A5c.371T>A (p.Ile124Asn)
n.137T>A
c.320T>A (p.Ile107Asn)
c.173T>A (p.Ile58Asn)
c.140T>A (p.Ile47Asn)
c.392T>A (p.Ile131Asn)
6g.73641846T>ACA364718215SLC17A5c.370A>T (p.Ile124Phe)
n.136A>T
c.319A>T (p.Ile107Phe)
c.172A>T (p.Ile58Phe)
c.139A>T (p.Ile47Phe)
c.391A>T (p.Ile131Phe)
6g.73641846T>CCA364718213SLC17A5c.370A>G (p.Ile124Val)
n.136A>G
c.319A>G (p.Ile107Val)
c.172A>G (p.Ile58Val)
c.139A>G (p.Ile47Val)
c.391A>G (p.Ile131Val)
6g.73641846T>GCA364718214SLC17A5c.370A>C (p.Ile124Leu)
n.136A>C
c.319A>C (p.Ile107Leu)
c.172A>C (p.Ile58Leu)
c.139A>C (p.Ile47Leu)
c.391A>C (p.Ile131Leu)
 gnomAD v4
6g.73641847C>ACA364718216SLC17A5c.369G>T (p.Gln123His)
n.135G>T
c.318G>T (p.Gln106His)
c.171G>T (p.Gln57His)
c.138G>T (p.Gln46His)
c.390G>T (p.Gln130His)
6g.73641847C=CA1638223122SLC17A5c.369G= (p.Gln123=)
n.135G=
c.318G= (p.Gln106=)
c.171G= (p.Gln57=)
c.138G= (p.Gln46=)
c.390G= (p.Gln130=)
6g.73641847C>GCA364718217SLC17A5c.369G>C (p.Gln123His)
n.135G>C
c.318G>C (p.Gln106His)
c.171G>C (p.Gln57His)
c.138G>C (p.Gln46His)
c.390G>C (p.Gln130His)
6g.73641847C>TCA450912194SLC17A5c.369G>A (p.Gln123=)
n.135G>A
c.318G>A (p.Gln106=)
c.171G>A (p.Gln57=)
c.138G>A (p.Gln46=)
c.390G>A (p.Gln130=)
 dbSNP gnomAD v4
6g.73641848T>ACA364718218SLC17A5c.368A>T (p.Gln123Leu)
n.134A>T
c.317A>T (p.Gln106Leu)
c.170A>T (p.Gln57Leu)
c.137A>T (p.Gln46Leu)
c.389A>T (p.Gln130Leu)
6g.73641848T>CCA140975726SLC17A5c.368A>G (p.Gln123Arg)
n.134A>G
c.317A>G (p.Gln106Arg)
c.170A>G (p.Gln57Arg)
c.137A>G (p.Gln46Arg)
c.389A>G (p.Gln130Arg)
 dbSNP
6g.73641848T>GCA364718219SLC17A5c.368A>C (p.Gln123Pro)
n.134A>C
c.317A>C (p.Gln106Pro)
c.170A>C (p.Gln57Pro)
c.137A>C (p.Gln46Pro)
c.389A>C (p.Gln130Pro)
6g.73641848T=CA1638223127SLC17A5c.368A= (p.Gln123=)
n.134A=
c.317A= (p.Gln106=)
c.170A= (p.Gln57=)
c.137A= (p.Gln46=)
c.389A= (p.Gln130=)
6g.73641849G>ACA364718220SLC17A5c.367C>T (p.Gln123Ter)
n.133C>T
c.316C>T (p.Gln106Ter)
c.169C>T (p.Gln57Ter)
c.136C>T (p.Gln46Ter)
c.388C>T (p.Gln130Ter)
6g.73641849G>CCA364718221SLC17A5c.367C>G (p.Gln123Glu)
n.133C>G
c.316C>G (p.Gln106Glu)
c.169C>G (p.Gln57Glu)
c.136C>G (p.Gln46Glu)
c.388C>G (p.Gln130Glu)
 gnomAD v4
6g.73641849G=CA1638223131SLC17A5c.367C= (p.Gln123=)
n.133C=
c.316C= (p.Gln106=)
c.169C= (p.Gln57=)
c.136C= (p.Gln46=)
c.388C= (p.Gln130=)
6g.73641849G>TCA3890542SLC17A5c.367C>A (p.Gln123Lys)
n.133C>A
c.316C>A (p.Gln106Lys)
c.169C>A (p.Gln57Lys)
c.136C>A (p.Gln46Lys)
c.388C>A (p.Gln130Lys)
 dbSNP ExAC
6g.73641850T>ACA450912195SLC17A5c.366A>T (p.Thr122=)
n.132A>T
c.315A>T (p.Thr105=)
c.168A>T (p.Thr56=)
c.135A>T (p.Thr45=)
c.387A>T (p.Thr129=)
6g.73641850T>CCA450912196SLC17A5c.366A>G (p.Thr122=)
n.132A>G
c.315A>G (p.Thr105=)
c.168A>G (p.Thr56=)
c.135A>G (p.Thr45=)
c.387A>G (p.Thr129=)
6g.73641850T>GCA3890543SLC17A5c.366A>C (p.Thr122=)
n.132A>C
c.315A>C (p.Thr105=)
c.168A>C (p.Thr56=)
c.135A>C (p.Thr45=)
c.387A>C (p.Thr129=)
 dbSNP ExAC
6g.73641850T=CA1638223136SLC17A5c.366A= (p.Thr122=)
n.132A=
c.315A= (p.Thr105=)
c.168A= (p.Thr56=)
c.135A= (p.Thr45=)
c.387A= (p.Thr129=)
6g.73641851G>ACA364718222SLC17A5c.365C>T (p.Thr122Ile)
n.131C>T
c.314C>T (p.Thr105Ile)
c.167C>T (p.Thr56Ile)
c.134C>T (p.Thr45Ile)
c.386C>T (p.Thr129Ile)
6g.73641851G>CCA364718223SLC17A5c.365C>G (p.Thr122Arg)
n.131C>G
c.314C>G (p.Thr105Arg)
c.167C>G (p.Thr56Arg)
c.134C>G (p.Thr45Arg)
c.386C>G (p.Thr129Arg)
6g.73641851G=CA1638223139SLC17A5c.365C= (p.Thr122=)
n.131C=
c.314C= (p.Thr105=)
c.167C= (p.Thr56=)
c.134C= (p.Thr45=)
c.386C= (p.Thr129=)
6g.73641851G>TCA3890544SLC17A5c.365C>A (p.Thr122Lys)
n.131C>A
c.314C>A (p.Thr105Lys)
c.167C>A (p.Thr56Lys)
c.134C>A (p.Thr45Lys)
c.386C>A (p.Thr129Lys)
 dbSNP ExAC
6g.73641852T>ACA364718224SLC17A5c.364A>T (p.Thr122Ser)
n.130A>T
c.313A>T (p.Thr105Ser)
c.166A>T (p.Thr56Ser)
c.133A>T (p.Thr45Ser)
c.385A>T (p.Thr129Ser)
6g.73641852T>CCA364718225SLC17A5c.364A>G (p.Thr122Ala)
n.130A>G
c.313A>G (p.Thr105Ala)
c.166A>G (p.Thr56Ala)
c.133A>G (p.Thr45Ala)
c.385A>G (p.Thr129Ala)
6g.73641852T>GCA364718226SLC17A5c.364A>C (p.Thr122Pro)
n.130A>C
c.313A>C (p.Thr105Pro)
c.166A>C (p.Thr56Pro)
c.133A>C (p.Thr45Pro)
c.385A>C (p.Thr129Pro)
6g.73641853G>ACA450912197SLC17A5c.363C>T (p.Ile121=)
n.129C>T
c.312C>T (p.Ile104=)
c.165C>T (p.Ile55=)
c.132C>T (p.Ile44=)
c.384C>T (p.Ile128=)
6g.73641853G>CCA364718227SLC17A5c.363C>G (p.Ile121Met)
n.129C>G
c.312C>G (p.Ile104Met)
c.165C>G (p.Ile55Met)
c.132C>G (p.Ile44Met)
c.384C>G (p.Ile128Met)
6g.73641853G=CA1638223144SLC17A5c.363C= (p.Ile121=)
n.129C=
c.312C= (p.Ile104=)
c.165C= (p.Ile55=)
c.132C= (p.Ile44=)
c.384C= (p.Ile128=)
6g.73641853G>TCA3890545SLC17A5c.363C>A (p.Ile121=)
n.129C>A
c.312C>A (p.Ile104=)
c.165C>A (p.Ile55=)
c.132C>A (p.Ile44=)
c.384C>A (p.Ile128=)
 dbSNP ExAC
6g.73641854A=CA1638223148SLC17A5c.362T= (p.Ile121=)
n.128T=
c.311T= (p.Ile104=)
c.164T= (p.Ile55=)
c.131T= (p.Ile44=)
c.383T= (p.Ile128=)
6g.73641854A>CCA364718228SLC17A5c.362T>G (p.Ile121Ser)
n.128T>G
c.311T>G (p.Ile104Ser)
c.164T>G (p.Ile55Ser)
c.131T>G (p.Ile44Ser)
c.383T>G (p.Ile128Ser)
6g.73641854A>GCA3890546SLC17A5c.362T>C (p.Ile121Thr)
n.128T>C
c.311T>C (p.Ile104Thr)
c.164T>C (p.Ile55Thr)
c.131T>C (p.Ile44Thr)
c.383T>C (p.Ile128Thr)
 dbSNP ExAC
6g.73641854A>TCA364718229SLC17A5c.362T>A (p.Ile121Asn)
n.128T>A
c.311T>A (p.Ile104Asn)
c.164T>A (p.Ile55Asn)
c.131T>A (p.Ile44Asn)
c.383T>A (p.Ile128Asn)
6g.73641855T>ACA364718230SLC17A5c.361A>T (p.Ile121Phe)
n.127A>T
c.310A>T (p.Ile104Phe)
c.163A>T (p.Ile55Phe)
c.130A>T (p.Ile44Phe)
c.382A>T (p.Ile128Phe)
6g.73641855T>CCA364718232SLC17A5c.361A>G (p.Ile121Val)
n.127A>G
c.310A>G (p.Ile104Val)
c.163A>G (p.Ile55Val)
c.130A>G (p.Ile44Val)
c.382A>G (p.Ile128Val)
 gnomAD v4
6g.73641855T>GCA364718231SLC17A5c.361A>C (p.Ile121Leu)
n.127A>C
c.310A>C (p.Ile104Leu)
c.163A>C (p.Ile55Leu)
c.130A>C (p.Ile44Leu)
c.382A>C (p.Ile128Leu)
6g.73641856G>ACA450912198SLC17A5c.360C>T (p.Ile120=)
n.126C>T
c.309C>T (p.Ile103=)
c.162C>T (p.Ile54=)
c.129C>T (p.Ile43=)
c.381C>T (p.Ile127=)
 gnomAD v4
6g.73641856G>CCA364718233SLC17A5c.360C>G (p.Ile120Met)
n.126C>G
c.309C>G (p.Ile103Met)
c.162C>G (p.Ile54Met)
c.129C>G (p.Ile43Met)
c.381C>G (p.Ile127Met)
6g.73641856G=CA1638223151SLC17A5c.360C= (p.Ile120=)
n.126C=
c.309C= (p.Ile103=)
c.162C= (p.Ile54=)
c.129C= (p.Ile43=)
c.381C= (p.Ile127=)
6g.73641856G>TCA3890547SLC17A5c.360C>A (p.Ile120=)
n.126C>A
c.309C>A (p.Ile103=)
c.162C>A (p.Ile54=)
c.129C>A (p.Ile43=)
c.381C>A (p.Ile127=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641857A=CA1638223156SLC17A5c.359T= (p.Ile120=)
n.125T=
c.308T= (p.Ile103=)
c.161T= (p.Ile54=)
c.128T= (p.Ile43=)
c.380T= (p.Ile127=)
6g.73641857A>CCA364718234SLC17A5c.359T>G (p.Ile120Ser)
n.125T>G
c.308T>G (p.Ile103Ser)
c.161T>G (p.Ile54Ser)
c.128T>G (p.Ile43Ser)
c.380T>G (p.Ile127Ser)
6g.73641857A>GCA364718235SLC17A5c.359T>C (p.Ile120Thr)
n.125T>C
c.308T>C (p.Ile103Thr)
c.161T>C (p.Ile54Thr)
c.128T>C (p.Ile43Thr)
c.380T>C (p.Ile127Thr)
6g.73641857A>TCA3890548SLC17A5c.359T>A (p.Ile120Asn)
n.125T>A
c.308T>A (p.Ile103Asn)
c.161T>A (p.Ile54Asn)
c.128T>A (p.Ile43Asn)
c.380T>A (p.Ile127Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641858T>ACA364718236SLC17A5c.358A>T (p.Ile120Phe)
n.124A>T
c.307A>T (p.Ile103Phe)
c.160A>T (p.Ile54Phe)
c.127A>T (p.Ile43Phe)
c.379A>T (p.Ile127Phe)
6g.73641858T>CCA364718237SLC17A5c.358A>G (p.Ile120Val)
n.124A>G
c.307A>G (p.Ile103Val)
c.160A>G (p.Ile54Val)
c.127A>G (p.Ile43Val)
c.379A>G (p.Ile127Val)
 dbSNP gnomAD v2 gnomAD v4
6g.73641858T>GCA364718238SLC17A5c.358A>C (p.Ile120Leu)
n.124A>C
c.307A>C (p.Ile103Leu)
c.160A>C (p.Ile54Leu)
c.127A>C (p.Ile43Leu)
c.379A>C (p.Ile127Leu)
 dbSNP
6g.73641858T=CA1638223161SLC17A5c.358A= (p.Ile120=)
n.124A=
c.307A= (p.Ile103=)
c.160A= (p.Ile54=)
c.127A= (p.Ile43=)
c.379A= (p.Ile127=)
6g.73641859G>ACA450912199SLC17A5c.357C>T (p.Tyr119=)
n.123C>T
c.306C>T (p.Tyr102=)
c.159C>T (p.Tyr53=)
c.126C>T (p.Tyr42=)
c.378C>T (p.Tyr126=)
6g.73641859G>CCA364718239SLC17A5c.357C>G (p.Tyr119Ter)
n.123C>G
c.306C>G (p.Tyr102Ter)
c.159C>G (p.Tyr53Ter)
c.126C>G (p.Tyr42Ter)
c.378C>G (p.Tyr126Ter)
6g.73641859G=CA1638223167SLC17A5c.357C= (p.Tyr119=)
n.123C=
c.306C= (p.Tyr102=)
c.159C= (p.Tyr53=)
c.126C= (p.Tyr42=)
c.378C= (p.Tyr126=)
6g.73641859G>TCA3890549SLC17A5c.357C>A (p.Tyr119Ter)
n.123C>A
c.306C>A (p.Tyr102Ter)
c.159C>A (p.Tyr53Ter)
c.126C>A (p.Tyr42Ter)
c.378C>A (p.Tyr126Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641860T>ACA364718240SLC17A5c.356A>T (p.Tyr119Phe)
n.122A>T
c.305A>T (p.Tyr102Phe)
c.158A>T (p.Tyr53Phe)
c.125A>T (p.Tyr42Phe)
c.377A>T (p.Tyr126Phe)
6g.73641860T>CCA3890550SLC17A5c.356A>G (p.Tyr119Cys)
n.122A>G
c.305A>G (p.Tyr102Cys)
c.158A>G (p.Tyr53Cys)
c.125A>G (p.Tyr42Cys)
c.377A>G (p.Tyr126Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641860T>GCA364718241SLC17A5c.356A>C (p.Tyr119Ser)
n.122A>C
c.305A>C (p.Tyr102Ser)
c.158A>C (p.Tyr53Ser)
c.125A>C (p.Tyr42Ser)
c.377A>C (p.Tyr126Ser)
6g.73641860T=CA1638223170SLC17A5c.356A= (p.Tyr119=)
n.122A=
c.305A= (p.Tyr102=)
c.158A= (p.Tyr53=)
c.125A= (p.Tyr42=)
c.377A= (p.Tyr126=)
6g.73641861A>CCA364718244SLC17A5c.355T>G (p.Tyr119Asp)
n.121T>G
c.304T>G (p.Tyr102Asp)
c.157T>G (p.Tyr53Asp)
c.124T>G (p.Tyr42Asp)
c.376T>G (p.Tyr126Asp)
6g.73641861A>GCA364718242SLC17A5c.355T>C (p.Tyr119His)
n.121T>C
c.304T>C (p.Tyr102His)
c.157T>C (p.Tyr53His)
c.124T>C (p.Tyr42His)
c.376T>C (p.Tyr126His)
6g.73641861A>TCA364718243SLC17A5c.355T>A (p.Tyr119Asn)
n.121T>A
c.304T>A (p.Tyr102Asn)
c.157T>A (p.Tyr53Asn)
c.124T>A (p.Tyr42Asn)
c.376T>A (p.Tyr126Asn)
6g.73641862G>ACA450912200SLC17A5c.354C>T (p.Gly118=)
n.120C>T
c.303C>T (p.Gly101=)
c.156C>T (p.Gly52=)
c.123C>T (p.Gly41=)
c.375C>T (p.Gly125=)
6g.73641862G>CCA450912201SLC17A5c.354C>G (p.Gly118=)
n.120C>G
c.303C>G (p.Gly101=)
c.156C>G (p.Gly52=)
c.123C>G (p.Gly41=)
c.375C>G (p.Gly125=)
6g.73641862G>TCA450912202SLC17A5c.354C>A (p.Gly118=)
n.120C>A
c.303C>A (p.Gly101=)
c.156C>A (p.Gly52=)
c.123C>A (p.Gly41=)
c.375C>A (p.Gly125=)
6g.73641863C>ACA364718245SLC17A5c.353G>T (p.Gly118Val)
n.119G>T
c.302G>T (p.Gly101Val)
c.155G>T (p.Gly52Val)
c.122G>T (p.Gly41Val)
c.374G>T (p.Gly125Val)
6g.73641863C>GCA364718246SLC17A5c.353G>C (p.Gly118Ala)
n.119G>C
c.302G>C (p.Gly101Ala)
c.155G>C (p.Gly52Ala)
c.122G>C (p.Gly41Ala)
c.374G>C (p.Gly125Ala)
6g.73641863C>TCA364718247SLC17A5c.353G>A (p.Gly118Asp)
n.119G>A
c.302G>A (p.Gly101Asp)
c.155G>A (p.Gly52Asp)
c.122G>A (p.Gly41Asp)
c.374G>A (p.Gly125Asp)
6g.73641864C>ACA364718248SLC17A5c.352G>T (p.Gly118Cys)
n.118G>T
c.301G>T (p.Gly101Cys)
c.154G>T (p.Gly52Cys)
c.121G>T (p.Gly41Cys)
c.373G>T (p.Gly125Cys)
6g.73641864C>GCA364718249SLC17A5c.352G>C (p.Gly118Arg)
n.118G>C
c.301G>C (p.Gly101Arg)
c.154G>C (p.Gly52Arg)
c.121G>C (p.Gly41Arg)
c.373G>C (p.Gly125Arg)
6g.73641864C>TCA364718250SLC17A5c.352G>A (p.Gly118Ser)
n.118G>A
c.301G>A (p.Gly101Ser)
c.154G>A (p.Gly52Ser)
c.121G>A (p.Gly41Ser)
c.373G>A (p.Gly125Ser)
6g.73641865delCA2573141131SLC17A5c.351del (p.Tyr117Ter)
n.117del
c.300del (p.Tyr100Ter)
c.153del (p.Tyr51Ter)
c.120del (p.Tyr40Ter)
c.372del (p.Tyr124Ter)
 dbSNP
6g.73641865A>CCA364718251SLC17A5c.351T>G (p.Tyr117Ter)
n.117T>G
c.300T>G (p.Tyr100Ter)
c.153T>G (p.Tyr51Ter)
c.120T>G (p.Tyr40Ter)
c.372T>G (p.Tyr124Ter)
6g.73641865A>GCA450912203SLC17A5c.351T>C (p.Tyr117=)
n.117T>C
c.300T>C (p.Tyr100=)
c.153T>C (p.Tyr51=)
c.120T>C (p.Tyr40=)
c.372T>C (p.Tyr124=)
6g.73641865A>TCA364718252SLC17A5c.351T>A (p.Tyr117Ter)
n.117T>A
c.300T>A (p.Tyr100Ter)
c.153T>A (p.Tyr51Ter)
c.120T>A (p.Tyr40Ter)
c.372T>A (p.Tyr124Ter)
6g.73641866T>ACA364718253SLC17A5c.350A>T (p.Tyr117Phe)
n.116A>T
c.299A>T (p.Tyr100Phe)
c.152A>T (p.Tyr51Phe)
c.119A>T (p.Tyr40Phe)
c.371A>T (p.Tyr124Phe)
6g.73641866T>CCA364718254SLC17A5c.350A>G (p.Tyr117Cys)
n.116A>G
c.299A>G (p.Tyr100Cys)
c.152A>G (p.Tyr51Cys)
c.119A>G (p.Tyr40Cys)
c.371A>G (p.Tyr124Cys)
6g.73641866T>GCA364718255SLC17A5c.350A>C (p.Tyr117Ser)
n.116A>C
c.299A>C (p.Tyr100Ser)
c.152A>C (p.Tyr51Ser)
c.119A>C (p.Tyr40Ser)
c.371A>C (p.Tyr124Ser)
6g.73641866_73641867delinsTACA1638223174SLC17A5c.349_350delinsTA (p.Tyr117=)
n.115_116delinsTA
c.298_299delinsTA (p.Tyr100=)
c.151_152delinsTA (p.Tyr51=)
c.118_119delinsTA (p.Tyr40=)
c.370_371delinsTA (p.Tyr124=)
6g.73641867A=CA1638223190SLC17A5c.349T= (p.Tyr117=)
n.115T=
c.298T= (p.Tyr100=)
c.151T= (p.Tyr51=)
c.118T= (p.Tyr40=)
c.370T= (p.Tyr124=)
6g.73641867A>CCA364718258SLC17A5c.349T>G (p.Tyr117Asp)
n.115T>G
c.298T>G (p.Tyr100Asp)
c.151T>G (p.Tyr51Asp)
c.118T>G (p.Tyr40Asp)
c.370T>G (p.Tyr124Asp)
6g.73641867A>GCA364718257SLC17A5c.349T>C (p.Tyr117His)
n.115T>C
c.298T>C (p.Tyr100His)
c.151T>C (p.Tyr51His)
c.118T>C (p.Tyr40His)
c.370T>C (p.Tyr124His)
 dbSNP gnomAD v3 gnomAD v4
6g.73641867A>TCA364718256SLC17A5c.349T>A (p.Tyr117Asn)
n.115T>A
c.298T>A (p.Tyr100Asn)
c.151T>A (p.Tyr51Asn)
c.118T>A (p.Tyr40Asn)
c.370T>A (p.Tyr124Asn)
6g.73641873dupCA16041086SLC17A5c.349dup (p.Tyr117LeufsTer?)
n.115dup
c.298dup (p.Tyr100LeufsTer?)
c.151dup (p.Tyr51LeufsTer?)
c.118dup (p.Tyr40LeufsTer?)
c.370dup (p.Tyr124LeufsTer?)
 ClinVar dbSNP
6g.73641873delCA3890551SLC17A5c.349del (p.Tyr117MetfsTer17)
n.115del
c.298del (p.Tyr100MetfsTer17)
c.151del (p.Tyr51MetfsTer17)
c.118del (p.Tyr40MetfsTer17)
c.370del (p.Tyr124MetfsTer17)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.73641868A>CCA364718260SLC17A5c.348T>G (p.Phe116Leu)
n.114T>G
c.297T>G (p.Phe99Leu)
c.150T>G (p.Phe50Leu)
c.117T>G (p.Phe39Leu)
c.369T>G (p.Phe123Leu)
6g.73641868A>GCA450912204SLC17A5c.348T>C (p.Phe116=)
n.114T>C
c.297T>C (p.Phe99=)
c.150T>C (p.Phe50=)
c.117T>C (p.Phe39=)
c.369T>C (p.Phe123=)
6g.73641868A>TCA364718259SLC17A5c.348T>A (p.Phe116Leu)
n.114T>A
c.297T>A (p.Phe99Leu)
c.150T>A (p.Phe50Leu)
c.117T>A (p.Phe39Leu)
c.369T>A (p.Phe123Leu)
6g.73641869A>CCA364718261SLC17A5c.347T>G (p.Phe116Cys)
n.113T>G
c.296T>G (p.Phe99Cys)
c.149T>G (p.Phe50Cys)
c.116T>G (p.Phe39Cys)
c.368T>G (p.Phe123Cys)
6g.73641869A>GCA364718262SLC17A5c.347T>C (p.Phe116Ser)
n.113T>C
c.296T>C (p.Phe99Ser)
c.149T>C (p.Phe50Ser)
c.116T>C (p.Phe39Ser)
c.368T>C (p.Phe123Ser)
6g.73641869A>TCA364718263SLC17A5c.347T>A (p.Phe116Tyr)
n.113T>A
c.296T>A (p.Phe99Tyr)
c.149T>A (p.Phe50Tyr)
c.116T>A (p.Phe39Tyr)
c.368T>A (p.Phe123Tyr)
6g.73641870A>CCA364718264SLC17A5c.346T>G (p.Phe116Val)
n.112T>G
c.295T>G (p.Phe99Val)
c.148T>G (p.Phe50Val)
c.115T>G (p.Phe39Val)
c.367T>G (p.Phe123Val)
6g.73641870A>GCA364718265SLC17A5c.346T>C (p.Phe116Leu)
n.112T>C
c.295T>C (p.Phe99Leu)
c.148T>C (p.Phe50Leu)
c.115T>C (p.Phe39Leu)
c.367T>C (p.Phe123Leu)
6g.73641870A>TCA364718266SLC17A5c.346T>A (p.Phe116Ile)
n.112T>A
c.295T>A (p.Phe99Ile)
c.148T>A (p.Phe50Ile)
c.115T>A (p.Phe39Ile)
c.367T>A (p.Phe123Ile)
6g.73641871A>CCA364718268SLC17A5c.345T>G (p.Phe115Leu)
n.111T>G
c.294T>G (p.Phe98Leu)
c.147T>G (p.Phe49Leu)
c.114T>G (p.Phe38Leu)
c.366T>G (p.Phe122Leu)
 gnomAD v4
6g.73641871A>GCA450912205SLC17A5c.345T>C (p.Phe115=)
n.111T>C
c.294T>C (p.Phe98=)
c.147T>C (p.Phe49=)
c.114T>C (p.Phe38=)
c.366T>C (p.Phe122=)
6g.73641871A>TCA364718267SLC17A5c.345T>A (p.Phe115Leu)
n.111T>A
c.294T>A (p.Phe98Leu)
c.147T>A (p.Phe49Leu)
c.114T>A (p.Phe38Leu)
c.366T>A (p.Phe122Leu)
6g.73641872A=CA1638223197SLC17A5c.344T= (p.Phe115=)
n.110T=
c.293T= (p.Phe98=)
c.146T= (p.Phe49=)
c.113T= (p.Phe38=)
c.365T= (p.Phe122=)
6g.73641872A>CCA364718269SLC17A5c.344T>G (p.Phe115Cys)
n.110T>G
c.293T>G (p.Phe98Cys)
c.146T>G (p.Phe49Cys)
c.113T>G (p.Phe38Cys)
c.365T>G (p.Phe122Cys)
6g.73641872A>GCA364718270SLC17A5c.344T>C (p.Phe115Ser)
n.110T>C
c.293T>C (p.Phe98Ser)
c.146T>C (p.Phe49Ser)
c.113T>C (p.Phe38Ser)
c.365T>C (p.Phe122Ser)
6g.73641872A>TCA364718271SLC17A5c.344T>A (p.Phe115Tyr)
n.110T>A
c.293T>A (p.Phe98Tyr)
c.146T>A (p.Phe49Tyr)
c.113T>A (p.Phe38Tyr)
c.365T>A (p.Phe122Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.73641873A>CCA364718272SLC17A5c.343T>G (p.Phe115Val)
n.109T>G
c.292T>G (p.Phe98Val)
c.145T>G (p.Phe49Val)
c.112T>G (p.Phe38Val)
c.364T>G (p.Phe122Val)
6g.73641873A>GCA364718273SLC17A5c.343T>C (p.Phe115Leu)
n.109T>C
c.292T>C (p.Phe98Leu)
c.145T>C (p.Phe49Leu)
c.112T>C (p.Phe38Leu)
c.364T>C (p.Phe122Leu)
6g.73641873A>TCA364718274SLC17A5c.343T>A (p.Phe115Ile)
n.109T>A
c.292T>A (p.Phe98Ile)
c.145T>A (p.Phe49Ile)
c.112T>A (p.Phe38Ile)
c.364T>A (p.Phe122Ile)
6g.73641874G>ACA450912206SLC17A5c.342C>T (p.Ser114=)
n.108C>T
c.291C>T (p.Ser97=)
c.144C>T (p.Ser48=)
c.111C>T (p.Ser37=)
c.363C>T (p.Ser121=)
6g.73641874G>CCA450912208SLC17A5c.342C>G (p.Ser114=)
n.108C>G
c.291C>G (p.Ser97=)
c.144C>G (p.Ser48=)
c.111C>G (p.Ser37=)
c.363C>G (p.Ser121=)
 ClinVar dbSNP gnomAD v4
6g.73641874G>TCA450912207SLC17A5c.342C>A (p.Ser114=)
n.108C>A
c.291C>A (p.Ser97=)
c.144C>A (p.Ser48=)
c.111C>A (p.Ser37=)
c.363C>A (p.Ser121=)
6g.73641874_73641875delinsAACA645566860SLC17A5c.341_342delinsTT (p.Ser114Phe)
n.107_108delinsTT
c.290_291delinsTT (p.Ser97Phe)
c.143_144delinsTT (p.Ser48Phe)
c.110_111delinsTT (p.Ser37Phe)
c.362_363delinsTT (p.Ser121Phe)
 COSMIC
6g.73641875G>ACA364718275SLC17A5c.341C>T (p.Ser114Phe)
n.107C>T
c.290C>T (p.Ser97Phe)
c.143C>T (p.Ser48Phe)
c.110C>T (p.Ser37Phe)
c.362C>T (p.Ser121Phe)
 COSMIC
6g.73641875G>CCA364718277SLC17A5c.341C>G (p.Ser114Cys)
n.107C>G
c.290C>G (p.Ser97Cys)
c.143C>G (p.Ser48Cys)
c.110C>G (p.Ser37Cys)
c.362C>G (p.Ser121Cys)
6g.73641875G=CA1638223200SLC17A5c.341C= (p.Ser114=)
n.107C=
c.290C= (p.Ser97=)
c.143C= (p.Ser48=)
c.110C= (p.Ser37=)
c.362C= (p.Ser121=)
6g.73641875G>TCA364718276SLC17A5c.341C>A (p.Ser114Tyr)
n.107C>A
c.290C>A (p.Ser97Tyr)
c.143C>A (p.Ser48Tyr)
c.110C>A (p.Ser37Tyr)
c.362C>A (p.Ser121Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.73641876A>CCA364718278SLC17A5c.340T>G (p.Ser114Ala)
n.106T>G
c.289T>G (p.Ser97Ala)
c.142T>G (p.Ser48Ala)
c.109T>G (p.Ser37Ala)
c.361T>G (p.Ser121Ala)
6g.73641876A>GCA364718279SLC17A5c.340T>C (p.Ser114Pro)
n.106T>C
c.289T>C (p.Ser97Pro)
c.142T>C (p.Ser48Pro)
c.109T>C (p.Ser37Pro)
c.361T>C (p.Ser121Pro)
6g.73641876A>TCA364718280SLC17A5c.340T>A (p.Ser114Thr)
n.106T>A
c.289T>A (p.Ser97Thr)
c.142T>A (p.Ser48Thr)
c.109T>A (p.Ser37Thr)
c.361T>A (p.Ser121Thr)
6g.73641877A>CCA450912211SLC17A5c.339T>G (p.Gly113=)
n.105T>G
c.288T>G (p.Gly96=)
c.141T>G (p.Gly47=)
c.108T>G (p.Gly36=)
c.360T>G (p.Gly120=)
6g.73641877A>GCA450912210SLC17A5c.339T>C (p.Gly113=)
n.105T>C
c.288T>C (p.Gly96=)
c.141T>C (p.Gly47=)
c.108T>C (p.Gly36=)
c.360T>C (p.Gly120=)
6g.73641877A>TCA450912209SLC17A5c.339T>A (p.Gly113=)
n.105T>A
c.288T>A (p.Gly96=)
c.141T>A (p.Gly47=)
c.108T>A (p.Gly36=)
c.360T>A (p.Gly120=)
6g.73641878C>ACA364718281SLC17A5c.338G>T (p.Gly113Val)
n.104G>T
c.287G>T (p.Gly96Val)
c.140G>T (p.Gly47Val)
c.107G>T (p.Gly36Val)
c.359G>T (p.Gly120Val)
6g.73641878C=CA1638223206SLC17A5c.338G= (p.Gly113=)
n.104G=
c.287G= (p.Gly96=)
c.140G= (p.Gly47=)
c.107G= (p.Gly36=)
c.359G= (p.Gly120=)
6g.73641878C>GCA364718282SLC17A5c.338G>C (p.Gly113Ala)
n.104G>C
c.287G>C (p.Gly96Ala)
c.140G>C (p.Gly47Ala)
c.107G>C (p.Gly36Ala)
c.359G>C (p.Gly120Ala)
6g.73641878C>TCA3890552SLC17A5c.338G>A (p.Gly113Asp)
n.104G>A
c.287G>A (p.Gly96Asp)
c.140G>A (p.Gly47Asp)
c.107G>A (p.Gly36Asp)
c.359G>A (p.Gly120Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641879C>ACA364718283SLC17A5c.337G>T (p.Gly113Cys)
n.103G>T
c.286G>T (p.Gly96Cys)
c.139G>T (p.Gly47Cys)
c.106G>T (p.Gly36Cys)
c.358G>T (p.Gly120Cys)
6g.73641879C=CA1638223213SLC17A5c.337G= (p.Gly113=)
n.103G=
c.286G= (p.Gly96=)
c.139G= (p.Gly47=)
c.106G= (p.Gly36=)
c.358G= (p.Gly120=)
6g.73641879C>GCA364718284SLC17A5c.337G>C (p.Gly113Arg)
n.103G>C
c.286G>C (p.Gly96Arg)
c.139G>C (p.Gly47Arg)
c.106G>C (p.Gly36Arg)
c.358G>C (p.Gly120Arg)
 gnomAD v4
6g.73641879C>TCA3890553SLC17A5c.337G>A (p.Gly113Ser)
n.103G>A
c.286G>A (p.Gly96Ser)
c.139G>A (p.Gly47Ser)
c.106G>A (p.Gly36Ser)
c.358G>A (p.Gly120Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641880G>ACA450912212SLC17A5c.336C>T (p.Leu112=)
n.102C>T
c.285C>T (p.Leu95=)
c.138C>T (p.Leu46=)
c.105C>T (p.Leu35=)
c.357C>T (p.Leu119=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641880G>CCA450912214SLC17A5c.336C>G (p.Leu112=)
n.102C>G
c.285C>G (p.Leu95=)
c.138C>G (p.Leu46=)
c.105C>G (p.Leu35=)
c.357C>G (p.Leu119=)
 gnomAD v4
6g.73641880G=CA1638223215SLC17A5c.336C= (p.Leu112=)
n.102C=
c.285C= (p.Leu95=)
c.138C= (p.Leu46=)
c.105C= (p.Leu35=)
c.357C= (p.Leu119=)
6g.73641880G>TCA450912213SLC17A5c.336C>A (p.Leu112=)
n.102C>A
c.285C>A (p.Leu95=)
c.138C>A (p.Leu46=)
c.105C>A (p.Leu35=)
c.357C>A (p.Leu119=)
6g.73641881A>CCA364718285SLC17A5c.335T>G (p.Leu112Arg)
n.101T>G
c.284T>G (p.Leu95Arg)
c.137T>G (p.Leu46Arg)
c.104T>G (p.Leu35Arg)
c.356T>G (p.Leu119Arg)
 gnomAD v4
6g.73641881A>GCA364718286SLC17A5c.335T>C (p.Leu112Pro)
n.101T>C
c.284T>C (p.Leu95Pro)
c.137T>C (p.Leu46Pro)
c.104T>C (p.Leu35Pro)
c.356T>C (p.Leu119Pro)
6g.73641881A>TCA364718287SLC17A5c.335T>A (p.Leu112His)
n.101T>A
c.284T>A (p.Leu95His)
c.137T>A (p.Leu46His)
c.104T>A (p.Leu35His)
c.356T>A (p.Leu119His)
6g.73641882G>ACA364718288SLC17A5c.334C>T (p.Leu112Phe)
n.100C>T
c.283C>T (p.Leu95Phe)
c.136C>T (p.Leu46Phe)
c.103C>T (p.Leu35Phe)
c.355C>T (p.Leu119Phe)
 gnomAD v4
6g.73641882G>CCA364718290SLC17A5c.334C>G (p.Leu112Val)
n.100C>G
c.283C>G (p.Leu95Val)
c.136C>G (p.Leu46Val)
c.103C>G (p.Leu35Val)
c.355C>G (p.Leu119Val)
6g.73641882G>TCA364718289SLC17A5c.334C>A (p.Leu112Ile)
n.100C>A
c.283C>A (p.Leu95Ile)
c.136C>A (p.Leu46Ile)
c.103C>A (p.Leu35Ile)
c.355C>A (p.Leu119Ile)
6g.73641883A>CCA364718291SLC17A5c.333T>G (p.Ile111Met)
n.99T>G
c.282T>G (p.Ile94Met)
c.135T>G (p.Ile45Met)
c.102T>G (p.Ile34Met)
c.354T>G (p.Ile118Met)
6g.73641883A>GCA450912215SLC17A5c.333T>C (p.Ile111=)
n.99T>C
c.282T>C (p.Ile94=)
c.135T>C (p.Ile45=)
c.102T>C (p.Ile34=)
c.354T>C (p.Ile118=)
6g.73641883A>TCA450912216SLC17A5c.333T>A (p.Ile111=)
n.99T>A
c.282T>A (p.Ile94=)
c.135T>A (p.Ile45=)
c.102T>A (p.Ile34=)
c.354T>A (p.Ile118=)
6g.73641884A>CCA364718292SLC17A5c.332T>G (p.Ile111Ser)
n.98T>G
c.281T>G (p.Ile94Ser)
c.134T>G (p.Ile45Ser)
c.101T>G (p.Ile34Ser)
c.353T>G (p.Ile118Ser)
6g.73641884A>GCA364718293SLC17A5c.332T>C (p.Ile111Thr)
n.98T>C
c.281T>C (p.Ile94Thr)
c.134T>C (p.Ile45Thr)
c.101T>C (p.Ile34Thr)
c.353T>C (p.Ile118Thr)
6g.73641884A>TCA364718294SLC17A5c.332T>A (p.Ile111Asn)
n.98T>A
c.281T>A (p.Ile94Asn)
c.134T>A (p.Ile45Asn)
c.101T>A (p.Ile34Asn)
c.353T>A (p.Ile118Asn)
6g.73641885T>ACA364718295SLC17A5c.331A>T (p.Ile111Phe)
n.97A>T
c.280A>T (p.Ile94Phe)
c.133A>T (p.Ile45Phe)
c.100A>T (p.Ile34Phe)
c.352A>T (p.Ile118Phe)
6g.73641885T>CCA364718296SLC17A5c.331A>G (p.Ile111Val)
n.97A>G
c.280A>G (p.Ile94Val)
c.133A>G (p.Ile45Val)
c.100A>G (p.Ile34Val)
c.352A>G (p.Ile118Val)
6g.73641885T>GCA364718297SLC17A5c.331A>C (p.Ile111Leu)
n.97A>C
c.280A>C (p.Ile94Leu)
c.133A>C (p.Ile45Leu)
c.100A>C (p.Ile34Leu)
c.352A>C (p.Ile118Leu)
6g.73641886C>ACA364718298SLC17A5c.330G>T (p.Trp110Cys)
n.96G>T
c.279G>T (p.Trp93Cys)
c.132G>T (p.Trp44Cys)
c.99G>T (p.Trp33Cys)
c.351G>T (p.Trp117Cys)
6g.73641886C=CA1638223220SLC17A5c.330G= (p.Trp110=)
n.96G=
c.279G= (p.Trp93=)
c.132G= (p.Trp44=)
c.99G= (p.Trp33=)
c.351G= (p.Trp117=)
6g.73641886C>GCA140975760SLC17A5c.330G>C (p.Trp110Cys)
n.96G>C
c.279G>C (p.Trp93Cys)
c.132G>C (p.Trp44Cys)
c.99G>C (p.Trp33Cys)
c.351G>C (p.Trp117Cys)
 dbSNP
6g.73641886C>TCA364718299SLC17A5c.330G>A (p.Trp110Ter)
n.96G>A
c.279G>A (p.Trp93Ter)
c.132G>A (p.Trp44Ter)
c.99G>A (p.Trp33Ter)
c.351G>A (p.Trp117Ter)
6g.73641887C>ACA364718300SLC17A5c.329G>T (p.Trp110Leu)
n.95G>T
c.278G>T (p.Trp93Leu)
c.131G>T (p.Trp44Leu)
c.98G>T (p.Trp33Leu)
c.350G>T (p.Trp117Leu)
6g.73641887C=CA1638223223SLC17A5c.329G= (p.Trp110=)
n.95G=
c.278G= (p.Trp93=)
c.131G= (p.Trp44=)
c.98G= (p.Trp33=)
c.350G= (p.Trp117=)
6g.73641887C>GCA364718301SLC17A5c.329G>C (p.Trp110Ser)
n.95G>C
c.278G>C (p.Trp93Ser)
c.131G>C (p.Trp44Ser)
c.98G>C (p.Trp33Ser)
c.350G>C (p.Trp117Ser)
6g.73641887C>TCA364718302SLC17A5c.329G>A (p.Trp110Ter)
n.95G>A
c.278G>A (p.Trp93Ter)
c.131G>A (p.Trp44Ter)
c.98G>A (p.Trp33Ter)
c.350G>A (p.Trp117Ter)
 ClinVar dbSNP
6g.73641888A=CA1638223226SLC17A5c.328T= (p.Trp110=)
n.94T=
c.277T= (p.Trp93=)
c.130T= (p.Trp44=)
c.97T= (p.Trp33=)
c.349T= (p.Trp117=)
6g.73641888A>CCA364718303SLC17A5c.328T>G (p.Trp110Gly)
n.94T>G
c.277T>G (p.Trp93Gly)
c.130T>G (p.Trp44Gly)
c.97T>G (p.Trp33Gly)
c.349T>G (p.Trp117Gly)
6g.73641888A>GCA3890554SLC17A5c.328T>C (p.Trp110Arg)
n.94T>C
c.277T>C (p.Trp93Arg)
c.130T>C (p.Trp44Arg)
c.97T>C (p.Trp33Arg)
c.349T>C (p.Trp117Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641888A>TCA364718304SLC17A5c.328T>A (p.Trp110Arg)
n.94T>A
c.277T>A (p.Trp93Arg)
c.130T>A (p.Trp44Arg)
c.97T>A (p.Trp33Arg)
c.349T>A (p.Trp117Arg)
6g.73641889T>ACA450912217SLC17A5c.327A>T (p.Gly109=)
n.93A>T
c.276A>T (p.Gly92=)
c.129A>T (p.Gly43=)
c.96A>T (p.Gly32=)
c.348A>T (p.Gly116=)
6g.73641889T>CCA450912218SLC17A5c.327A>G (p.Gly109=)
n.93A>G
c.276A>G (p.Gly92=)
c.129A>G (p.Gly43=)
c.96A>G (p.Gly32=)
c.348A>G (p.Gly116=)
 gnomAD v4
6g.73641889T>GCA450912219SLC17A5c.327A>C (p.Gly109=)
n.93A>C
c.276A>C (p.Gly92=)
c.129A>C (p.Gly43=)
c.96A>C (p.Gly32=)
c.348A>C (p.Gly116=)
6g.73641890C>ACA364718305SLC17A5c.326G>T (p.Gly109Val)
n.92G>T
c.275G>T (p.Gly92Val)
c.128G>T (p.Gly43Val)
c.95G>T (p.Gly32Val)
c.347G>T (p.Gly116Val)
6g.73641890C>GCA364718306SLC17A5c.326G>C (p.Gly109Ala)
n.92G>C
c.275G>C (p.Gly92Ala)
c.128G>C (p.Gly43Ala)
c.95G>C (p.Gly32Ala)
c.347G>C (p.Gly116Ala)
6g.73641890C>TCA364718307SLC17A5c.326G>A (p.Gly109Glu)
n.92G>A
c.275G>A (p.Gly92Glu)
c.128G>A (p.Gly43Glu)
c.95G>A (p.Gly32Glu)
c.347G>A (p.Gly116Glu)
6g.73641891C>ACA364718308SLC17A5c.325G>T (p.Gly109Ter)
n.91G>T
c.274G>T (p.Gly92Ter)
c.127G>T (p.Gly43Ter)
c.94G>T (p.Gly32Ter)
c.346G>T (p.Gly116Ter)
6g.73641891C>GCA364718309SLC17A5c.325G>C (p.Gly109Arg)
n.91G>C
c.274G>C (p.Gly92Arg)
c.127G>C (p.Gly43Arg)
c.94G>C (p.Gly32Arg)
c.346G>C (p.Gly116Arg)
6g.73641891C>TCA364718310SLC17A5c.325G>A (p.Gly109Arg)
n.91G>A
c.274G>A (p.Gly92Arg)
c.127G>A (p.Gly43Arg)
c.94G>A (p.Gly32Arg)
c.346G>A (p.Gly116Arg)
6g.73641892T>ACA364718311SLC17A5c.324A>T (p.Gln108His)
n.90A>T
c.273A>T (p.Gln91His)
c.126A>T (p.Gln42His)
c.93A>T (p.Gln31His)
c.345A>T (p.Gln115His)
6g.73641892T>CCA450912220SLC17A5c.324A>G (p.Gln108=)
n.90A>G
c.273A>G (p.Gln91=)
c.126A>G (p.Gln42=)
c.93A>G (p.Gln31=)
c.345A>G (p.Gln115=)
 gnomAD v4
6g.73641892T>GCA364718312SLC17A5c.324A>C (p.Gln108His)
n.90A>C
c.273A>C (p.Gln91His)
c.126A>C (p.Gln42His)
c.93A>C (p.Gln31His)
c.345A>C (p.Gln115His)
6g.73641893T>ACA364718313SLC17A5c.323A>T (p.Gln108Leu)
n.89A>T
c.272A>T (p.Gln91Leu)
c.125A>T (p.Gln42Leu)
c.92A>T (p.Gln31Leu)
c.344A>T (p.Gln115Leu)
6g.73641893T>CCA364718314SLC17A5c.323A>G (p.Gln108Arg)
n.89A>G
c.272A>G (p.Gln91Arg)
c.125A>G (p.Gln42Arg)
c.92A>G (p.Gln31Arg)
c.344A>G (p.Gln115Arg)
6g.73641893T>GCA364718315SLC17A5c.323A>C (p.Gln108Pro)
n.89A>C
c.272A>C (p.Gln91Pro)
c.125A>C (p.Gln42Pro)
c.92A>C (p.Gln31Pro)
c.344A>C (p.Gln115Pro)
6g.73641894G>ACA364718317SLC17A5c.322C>T (p.Gln108Ter)
n.88C>T
c.271C>T (p.Gln91Ter)
c.124C>T (p.Gln42Ter)
c.91C>T (p.Gln31Ter)
c.343C>T (p.Gln115Ter)
 ClinVar
6g.73641894G>CCA364718318SLC17A5c.322C>G (p.Gln108Glu)
n.88C>G
c.271C>G (p.Gln91Glu)
c.124C>G (p.Gln42Glu)
c.91C>G (p.Gln31Glu)
c.343C>G (p.Gln115Glu)
6g.73641894G>TCA364718316SLC17A5c.322C>A (p.Gln108Lys)
n.88C>A
c.271C>A (p.Gln91Lys)
c.124C>A (p.Gln42Lys)
c.91C>A (p.Gln31Lys)
c.343C>A (p.Gln115Lys)
 gnomAD v4
6g.73641894_73641895insTATAAGAGACCA2580075806SLC17A5c.321_322insGTCTCTTATA (p.Gln108ValfsTer?)
n.87_88insGTCTCTTATA
c.270_271insGTCTCTTATA (p.Gln91ValfsTer?)
c.123_124insGTCTCTTATA (p.Gln42ValfsTer?)
c.90_91insGTCTCTTATA (p.Gln31ValfsTer?)
c.342_343insGTCTCTTATA (p.Gln115ValfsTer?)
 ClinVar
6g.73641895A>CCA450912221SLC17A5c.321T>G (p.Thr107=)
n.87T>G
c.270T>G (p.Thr90=)
c.123T>G (p.Thr41=)
c.90T>G (p.Thr30=)
c.342T>G (p.Thr114=)
 ClinVar gnomAD v4
6g.73641895A>GCA450912223SLC17A5c.321T>C (p.Thr107=)
n.87T>C
c.270T>C (p.Thr90=)
c.123T>C (p.Thr41=)
c.90T>C (p.Thr30=)
c.342T>C (p.Thr114=)
6g.73641895A>TCA450912222SLC17A5c.321T>A (p.Thr107=)
n.87T>A
c.270T>A (p.Thr90=)
c.123T>A (p.Thr41=)
c.90T>A (p.Thr30=)
c.342T>A (p.Thr114=)

Number of alleles fetched