Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.73641737C>ACA364717971SLC17A5c.479G>T (p.Gly160Val)
n.245G>T
c.428G>T (p.Gly143Val)
c.281G>T (p.Gly94Val)
c.248G>T (p.Gly83Val)
c.500G>T (p.Gly167Val)
6g.73641737C>GCA364717972SLC17A5c.479G>C (p.Gly160Ala)
n.245G>C
c.428G>C (p.Gly143Ala)
c.281G>C (p.Gly94Ala)
c.248G>C (p.Gly83Ala)
c.500G>C (p.Gly167Ala)
6g.73641737C>TCA364717973SLC17A5c.479G>A (p.Gly160Glu)
n.245G>A
c.428G>A (p.Gly143Glu)
c.281G>A (p.Gly94Glu)
c.248G>A (p.Gly83Glu)
c.500G>A (p.Gly167Glu)
6g.73641738delCA2580075793SLC17A5c.479del (p.Gly160GlufsTer11)
n.245del
c.428del (p.Gly143GlufsTer11)
c.281del (p.Gly94GlufsTer11)
c.248del (p.Gly83GlufsTer11)
c.500del (p.Gly167GlufsTer11)
 ClinVar
6g.73641738C>ACA364717974SLC17A5c.478G>T (p.Gly160Ter)
n.244G>T
c.427G>T (p.Gly143Ter)
c.280G>T (p.Gly94Ter)
c.247G>T (p.Gly83Ter)
c.499G>T (p.Gly167Ter)
6g.73641738C>GCA364717975SLC17A5c.478G>C (p.Gly160Arg)
n.244G>C
c.427G>C (p.Gly143Arg)
c.280G>C (p.Gly94Arg)
c.247G>C (p.Gly83Arg)
c.499G>C (p.Gly167Arg)
6g.73641738C>TCA364717976SLC17A5c.478G>A (p.Gly160Arg)
n.244G>A
c.427G>A (p.Gly143Arg)
c.280G>A (p.Gly94Arg)
c.247G>A (p.Gly83Arg)
c.499G>A (p.Gly167Arg)
6g.73641739T>ACA364717979SLC17A5c.477A>T (p.Leu159Phe)
n.243A>T
c.426A>T (p.Leu142Phe)
c.279A>T (p.Leu93Phe)
c.246A>T (p.Leu82Phe)
c.498A>T (p.Leu166Phe)
6g.73641739T>CCA450912106SLC17A5c.477A>G (p.Leu159=)
n.243A>G
c.426A>G (p.Leu142=)
c.279A>G (p.Leu93=)
c.246A>G (p.Leu82=)
c.498A>G (p.Leu166=)
6g.73641739T>GCA364717980SLC17A5c.477A>C (p.Leu159Phe)
n.243A>C
c.426A>C (p.Leu142Phe)
c.279A>C (p.Leu93Phe)
c.246A>C (p.Leu82Phe)
c.498A>C (p.Leu166Phe)
6g.73641740A>CCA364717984SLC17A5c.476T>G (p.Leu159Ter)
n.242T>G
c.425T>G (p.Leu142Ter)
c.278T>G (p.Leu93Ter)
c.245T>G (p.Leu82Ter)
c.497T>G (p.Leu166Ter)
 COSMIC
6g.73641740A>GCA364717985SLC17A5c.476T>C (p.Leu159Ser)
n.242T>C
c.425T>C (p.Leu142Ser)
c.278T>C (p.Leu93Ser)
c.245T>C (p.Leu82Ser)
c.497T>C (p.Leu166Ser)
6g.73641740A>TCA364717987SLC17A5c.476T>A (p.Leu159Ter)
n.242T>A
c.425T>A (p.Leu142Ter)
c.278T>A (p.Leu93Ter)
c.245T>A (p.Leu82Ter)
c.497T>A (p.Leu166Ter)
6g.73641741A>CCA364717990SLC17A5c.475T>G (p.Leu159Val)
n.241T>G
c.424T>G (p.Leu142Val)
c.277T>G (p.Leu93Val)
c.244T>G (p.Leu82Val)
c.496T>G (p.Leu166Val)
6g.73641741A>GCA450912107SLC17A5c.475T>C (p.Leu159=)
n.241T>C
c.424T>C (p.Leu142=)
c.277T>C (p.Leu93=)
c.244T>C (p.Leu82=)
c.496T>C (p.Leu166=)
6g.73641741A>TCA364717991SLC17A5c.475T>A (p.Leu159Ile)
n.241T>A
c.424T>A (p.Leu142Ile)
c.277T>A (p.Leu93Ile)
c.244T>A (p.Leu82Ile)
c.496T>A (p.Leu166Ile)
6g.73641742A>CCA364717993SLC17A5c.474T>G (p.Asp158Glu)
n.240T>G
c.423T>G (p.Asp141Glu)
c.276T>G (p.Asp92Glu)
c.243T>G (p.Asp81Glu)
c.495T>G (p.Asp165Glu)
6g.73641742A>GCA450912108SLC17A5c.474T>C (p.Asp158=)
n.240T>C
c.423T>C (p.Asp141=)
c.276T>C (p.Asp92=)
c.243T>C (p.Asp81=)
c.495T>C (p.Asp165=)
6g.73641742A>TCA364717995SLC17A5c.474T>A (p.Asp158Glu)
n.240T>A
c.423T>A (p.Asp141Glu)
c.276T>A (p.Asp92Glu)
c.243T>A (p.Asp81Glu)
c.495T>A (p.Asp165Glu)
6g.73641743T>ACA364717997SLC17A5c.473A>T (p.Asp158Val)
n.239A>T
c.422A>T (p.Asp141Val)
c.275A>T (p.Asp92Val)
c.242A>T (p.Asp81Val)
c.494A>T (p.Asp165Val)
6g.73641743T>CCA364717999SLC17A5c.473A>G (p.Asp158Gly)
n.239A>G
c.422A>G (p.Asp141Gly)
c.275A>G (p.Asp92Gly)
c.242A>G (p.Asp81Gly)
c.494A>G (p.Asp165Gly)
6g.73641743T>GCA364718001SLC17A5c.473A>C (p.Asp158Ala)
n.239A>C
c.422A>C (p.Asp141Ala)
c.275A>C (p.Asp92Ala)
c.242A>C (p.Asp81Ala)
c.494A>C (p.Asp165Ala)
6g.73641744C>ACA364718003SLC17A5c.472G>T (p.Asp158Tyr)
n.238G>T
c.421G>T (p.Asp141Tyr)
c.274G>T (p.Asp92Tyr)
c.241G>T (p.Asp81Tyr)
c.493G>T (p.Asp165Tyr)
6g.73641744C=CA1638222995SLC17A5c.472G= (p.Asp158=)
n.238G=
c.421G= (p.Asp141=)
c.274G= (p.Asp92=)
c.241G= (p.Asp81=)
c.493G= (p.Asp165=)
6g.73641744C>GCA364718005SLC17A5c.472G>C (p.Asp158His)
n.238G>C
c.421G>C (p.Asp141His)
c.274G>C (p.Asp92His)
c.241G>C (p.Asp81His)
c.493G>C (p.Asp165His)
 dbSNP gnomAD v2 gnomAD v4
6g.73641744C>TCA364718007SLC17A5c.472G>A (p.Asp158Asn)
n.238G>A
c.421G>A (p.Asp141Asn)
c.274G>A (p.Asp92Asn)
c.241G>A (p.Asp81Asn)
c.493G>A (p.Asp165Asn)
6g.73641745T>ACA450912109SLC17A5c.471A>T (p.Ala157=)
n.237A>T
c.420A>T (p.Ala140=)
c.273A>T (p.Ala91=)
c.240A>T (p.Ala80=)
c.492A>T (p.Ala164=)
6g.73641745T>CCA450912110SLC17A5c.471A>G (p.Ala157=)
n.237A>G
c.420A>G (p.Ala140=)
c.273A>G (p.Ala91=)
c.240A>G (p.Ala80=)
c.492A>G (p.Ala164=)
6g.73641745T>GCA450912111SLC17A5c.471A>C (p.Ala157=)
n.237A>C
c.420A>C (p.Ala140=)
c.273A>C (p.Ala91=)
c.240A>C (p.Ala80=)
c.492A>C (p.Ala164=)
6g.73641746G>ACA364718009SLC17A5c.470C>T (p.Ala157Val)
n.236C>T
c.419C>T (p.Ala140Val)
c.272C>T (p.Ala91Val)
c.239C>T (p.Ala80Val)
c.491C>T (p.Ala164Val)
 gnomAD v4
6g.73641746G>CCA364718010SLC17A5c.470C>G (p.Ala157Gly)
n.236C>G
c.419C>G (p.Ala140Gly)
c.272C>G (p.Ala91Gly)
c.239C>G (p.Ala80Gly)
c.491C>G (p.Ala164Gly)
6g.73641746G>TCA364718011SLC17A5c.470C>A (p.Ala157Glu)
n.236C>A
c.419C>A (p.Ala140Glu)
c.272C>A (p.Ala91Glu)
c.239C>A (p.Ala80Glu)
c.491C>A (p.Ala164Glu)
6g.73641747C>ACA364718012SLC17A5c.469G>T (p.Ala157Ser)
n.235G>T
c.418G>T (p.Ala140Ser)
c.271G>T (p.Ala91Ser)
c.238G>T (p.Ala80Ser)
c.490G>T (p.Ala164Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641747C=CA1638222997SLC17A5c.469G= (p.Ala157=)
n.235G=
c.418G= (p.Ala140=)
c.271G= (p.Ala91=)
c.238G= (p.Ala80=)
c.490G= (p.Ala164=)
6g.73641747C>GCA364718013SLC17A5c.469G>C (p.Ala157Pro)
n.235G>C
c.418G>C (p.Ala140Pro)
c.271G>C (p.Ala91Pro)
c.238G>C (p.Ala80Pro)
c.490G>C (p.Ala164Pro)
6g.73641747C>TCA364718014SLC17A5c.469G>A (p.Ala157Thr)
n.235G>A
c.418G>A (p.Ala140Thr)
c.271G>A (p.Ala91Thr)
c.238G>A (p.Ala80Thr)
c.490G>A (p.Ala164Thr)
 dbSNP
6g.73641748A=CA1638223000SLC17A5c.468T= (p.Ala156=)
n.234T=
c.417T= (p.Ala139=)
c.270T= (p.Ala90=)
c.237T= (p.Ala79=)
c.489T= (p.Ala163=)
6g.73641748A>CCA450912114SLC17A5c.468T>G (p.Ala156=)
n.234T>G
c.417T>G (p.Ala139=)
c.270T>G (p.Ala90=)
c.237T>G (p.Ala79=)
c.489T>G (p.Ala163=)
6g.73641748A>GCA3890530SLC17A5c.468T>C (p.Ala156=)
n.234T>C
c.417T>C (p.Ala139=)
c.270T>C (p.Ala90=)
c.237T>C (p.Ala79=)
c.489T>C (p.Ala163=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641748A>TCA450912116SLC17A5c.468T>A (p.Ala156=)
n.234T>A
c.417T>A (p.Ala139=)
c.270T>A (p.Ala90=)
c.237T>A (p.Ala79=)
c.489T>A (p.Ala163=)
6g.73641749G>ACA364718016SLC17A5c.467C>T (p.Ala156Val)
n.233C>T
c.416C>T (p.Ala139Val)
c.269C>T (p.Ala90Val)
c.236C>T (p.Ala79Val)
c.488C>T (p.Ala163Val)
6g.73641749G>CCA364718017SLC17A5c.467C>G (p.Ala156Gly)
n.233C>G
c.416C>G (p.Ala139Gly)
c.269C>G (p.Ala90Gly)
c.236C>G (p.Ala79Gly)
c.488C>G (p.Ala163Gly)
6g.73641749G>TCA364718015SLC17A5c.467C>A (p.Ala156Asp)
n.233C>A
c.416C>A (p.Ala139Asp)
c.269C>A (p.Ala90Asp)
c.236C>A (p.Ala79Asp)
c.488C>A (p.Ala163Asp)
6g.73641750C>ACA364718018SLC17A5c.466G>T (p.Ala156Ser)
n.232G>T
c.415G>T (p.Ala139Ser)
c.268G>T (p.Ala90Ser)
c.235G>T (p.Ala79Ser)
c.487G>T (p.Ala163Ser)
6g.73641750C>GCA364718019SLC17A5c.466G>C (p.Ala156Pro)
n.232G>C
c.415G>C (p.Ala139Pro)
c.268G>C (p.Ala90Pro)
c.235G>C (p.Ala79Pro)
c.487G>C (p.Ala163Pro)
6g.73641750C>TCA364718020SLC17A5c.466G>A (p.Ala156Thr)
n.232G>A
c.415G>A (p.Ala139Thr)
c.268G>A (p.Ala90Thr)
c.235G>A (p.Ala79Thr)
c.487G>A (p.Ala163Thr)
6g.73641751A>CCA364718021SLC17A5c.465T>G (p.Ile155Met)
n.231T>G
c.414T>G (p.Ile138Met)
c.267T>G (p.Ile89Met)
c.234T>G (p.Ile78Met)
c.486T>G (p.Ile162Met)
6g.73641751A>GCA450912117SLC17A5c.465T>C (p.Ile155=)
n.231T>C
c.414T>C (p.Ile138=)
c.267T>C (p.Ile89=)
c.234T>C (p.Ile78=)
c.486T>C (p.Ile162=)
6g.73641751A>TCA450912118SLC17A5c.465T>A (p.Ile155=)
n.231T>A
c.414T>A (p.Ile138=)
c.267T>A (p.Ile89=)
c.234T>A (p.Ile78=)
c.486T>A (p.Ile162=)
6g.73641752A>CCA364718024SLC17A5c.464T>G (p.Ile155Ser)
n.230T>G
c.413T>G (p.Ile138Ser)
c.266T>G (p.Ile89Ser)
c.233T>G (p.Ile78Ser)
c.485T>G (p.Ile162Ser)
6g.73641752A>GCA364718023SLC17A5c.464T>C (p.Ile155Thr)
n.230T>C
c.413T>C (p.Ile138Thr)
c.266T>C (p.Ile89Thr)
c.233T>C (p.Ile78Thr)
c.485T>C (p.Ile162Thr)
6g.73641752A>TCA364718022SLC17A5c.464T>A (p.Ile155Asn)
n.230T>A
c.413T>A (p.Ile138Asn)
c.266T>A (p.Ile89Asn)
c.233T>A (p.Ile78Asn)
c.485T>A (p.Ile162Asn)
6g.73641753T>ACA364718025SLC17A5c.463A>T (p.Ile155Phe)
n.229A>T
c.412A>T (p.Ile138Phe)
c.265A>T (p.Ile89Phe)
c.232A>T (p.Ile78Phe)
c.484A>T (p.Ile162Phe)
6g.73641753T>CCA364718026SLC17A5c.463A>G (p.Ile155Val)
n.229A>G
c.412A>G (p.Ile138Val)
c.265A>G (p.Ile89Val)
c.232A>G (p.Ile78Val)
c.484A>G (p.Ile162Val)
6g.73641753T>GCA364718027SLC17A5c.463A>C (p.Ile155Leu)
n.229A>C
c.412A>C (p.Ile138Leu)
c.265A>C (p.Ile89Leu)
c.232A>C (p.Ile78Leu)
c.484A>C (p.Ile162Leu)
6g.73641754G>ACA450912119SLC17A5c.462C>T (p.Pro154=)
n.228C>T
c.411C>T (p.Pro137=)
c.264C>T (p.Pro88=)
c.231C>T (p.Pro77=)
c.483C>T (p.Pro161=)
 gnomAD v4
6g.73641754G>CCA450912120SLC17A5c.462C>G (p.Pro154=)
n.228C>G
c.411C>G (p.Pro137=)
c.264C>G (p.Pro88=)
c.231C>G (p.Pro77=)
c.483C>G (p.Pro161=)
6g.73641754G>TCA450912121SLC17A5c.462C>A (p.Pro154=)
n.228C>A
c.411C>A (p.Pro137=)
c.264C>A (p.Pro88=)
c.231C>A (p.Pro77=)
c.483C>A (p.Pro161=)
6g.73641755G>ACA364718028SLC17A5c.461C>T (p.Pro154Leu)
n.227C>T
c.410C>T (p.Pro137Leu)
c.263C>T (p.Pro88Leu)
c.230C>T (p.Pro77Leu)
c.482C>T (p.Pro161Leu)
6g.73641755G>CCA364718029SLC17A5c.461C>G (p.Pro154Arg)
n.227C>G
c.410C>G (p.Pro137Arg)
c.263C>G (p.Pro88Arg)
c.230C>G (p.Pro77Arg)
c.482C>G (p.Pro161Arg)
6g.73641755G>TCA364718030SLC17A5c.461C>A (p.Pro154His)
n.227C>A
c.410C>A (p.Pro137His)
c.263C>A (p.Pro88His)
c.230C>A (p.Pro77His)
c.482C>A (p.Pro161His)
6g.73641756G>ACA364718031SLC17A5c.460C>T (p.Pro154Ser)
n.226C>T
c.409C>T (p.Pro137Ser)
c.262C>T (p.Pro88Ser)
c.229C>T (p.Pro77Ser)
c.481C>T (p.Pro161Ser)
6g.73641756G>CCA364718033SLC17A5c.460C>G (p.Pro154Ala)
n.226C>G
c.409C>G (p.Pro137Ala)
c.262C>G (p.Pro88Ala)
c.229C>G (p.Pro77Ala)
c.481C>G (p.Pro161Ala)
6g.73641756G>TCA364718032SLC17A5c.460C>A (p.Pro154Thr)
n.226C>A
c.409C>A (p.Pro137Thr)
c.262C>A (p.Pro88Thr)
c.229C>A (p.Pro77Thr)
c.481C>A (p.Pro161Thr)
6g.73641756_73641758delinsACACTTAGATCA2580075794SLC17A5c.458_460delinsATCTAAGTGT (p.Thr153AsnfsTer?)
n.224_226delinsATCTAAGTGT
c.407_409delinsATCTAAGTGT (p.Thr136AsnfsTer?)
c.260_262delinsATCTAAGTGT (p.Thr87AsnfsTer?)
c.227_229delinsATCTAAGTGT (p.Thr76AsnfsTer?)
c.479_481delinsATCTAAGTGT (p.Thr160AsnfsTer?)
 ClinVar
6g.73641757A=CA1638223004SLC17A5c.459T= (p.Thr153=)
n.225T=
c.408T= (p.Thr136=)
c.261T= (p.Thr87=)
c.228T= (p.Thr76=)
c.480T= (p.Thr160=)
6g.73641757A>CCA450912122SLC17A5c.459T>G (p.Thr153=)
n.225T>G
c.408T>G (p.Thr136=)
c.261T>G (p.Thr87=)
c.228T>G (p.Thr76=)
c.480T>G (p.Thr160=)
6g.73641757A>GCA450912123SLC17A5c.459T>C (p.Thr153=)
n.225T>C
c.408T>C (p.Thr136=)
c.261T>C (p.Thr87=)
c.228T>C (p.Thr76=)
c.480T>C (p.Thr160=)
 dbSNP gnomAD v4
6g.73641757A>TCA450912124SLC17A5c.459T>A (p.Thr153=)
n.225T>A
c.408T>A (p.Thr136=)
c.261T>A (p.Thr87=)
c.228T>A (p.Thr76=)
c.480T>A (p.Thr160=)
6g.73641758G>ACA364718034SLC17A5c.458C>T (p.Thr153Ile)
n.224C>T
c.407C>T (p.Thr136Ile)
c.260C>T (p.Thr87Ile)
c.227C>T (p.Thr76Ile)
c.479C>T (p.Thr160Ile)
6g.73641758G>CCA364718036SLC17A5c.458C>G (p.Thr153Ser)
n.224C>G
c.407C>G (p.Thr136Ser)
c.260C>G (p.Thr87Ser)
c.227C>G (p.Thr76Ser)
c.479C>G (p.Thr160Ser)
 gnomAD v4
6g.73641758G=CA1638223007SLC17A5c.458C= (p.Thr153=)
n.224C=
c.407C= (p.Thr136=)
c.260C= (p.Thr87=)
c.227C= (p.Thr76=)
c.479C= (p.Thr160=)
6g.73641758G>TCA364718035SLC17A5c.458C>A (p.Thr153Asn)
n.224C>A
c.407C>A (p.Thr136Asn)
c.260C>A (p.Thr87Asn)
c.227C>A (p.Thr76Asn)
c.479C>A (p.Thr160Asn)
 dbSNP gnomAD v4
6g.73641759T>ACA364718037SLC17A5c.457A>T (p.Thr153Ser)
n.223A>T
c.406A>T (p.Thr136Ser)
c.259A>T (p.Thr87Ser)
c.226A>T (p.Thr76Ser)
c.478A>T (p.Thr160Ser)
6g.73641759T>CCA364718038SLC17A5c.457A>G (p.Thr153Ala)
n.223A>G
c.406A>G (p.Thr136Ala)
c.259A>G (p.Thr87Ala)
c.226A>G (p.Thr76Ala)
c.478A>G (p.Thr160Ala)
6g.73641759T>GCA364718039SLC17A5c.457A>C (p.Thr153Pro)
n.223A>C
c.406A>C (p.Thr136Pro)
c.259A>C (p.Thr87Pro)
c.226A>C (p.Thr76Pro)
c.478A>C (p.Thr160Pro)
6g.73641760G>ACA450912125SLC17A5c.456C>T (p.Phe152=)
n.222C>T
c.405C>T (p.Phe135=)
c.258C>T (p.Phe86=)
c.225C>T (p.Phe75=)
c.477C>T (p.Phe159=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.73641760G>CCA364718040SLC17A5c.456C>G (p.Phe152Leu)
n.222C>G
c.405C>G (p.Phe135Leu)
c.258C>G (p.Phe86Leu)
c.225C>G (p.Phe75Leu)
c.477C>G (p.Phe159Leu)
 gnomAD v4
6g.73641760G=CA1638223010SLC17A5c.456C= (p.Phe152=)
n.222C=
c.405C= (p.Phe135=)
c.258C= (p.Phe86=)
c.225C= (p.Phe75=)
c.477C= (p.Phe159=)
6g.73641760G>TCA364718041SLC17A5c.456C>A (p.Phe152Leu)
n.222C>A
c.405C>A (p.Phe135Leu)
c.258C>A (p.Phe86Leu)
c.225C>A (p.Phe75Leu)
c.477C>A (p.Phe159Leu)
6g.73641761A>CCA364718042SLC17A5c.455T>G (p.Phe152Cys)
n.221T>G
c.404T>G (p.Phe135Cys)
c.257T>G (p.Phe86Cys)
c.224T>G (p.Phe75Cys)
c.476T>G (p.Phe159Cys)
6g.73641761A>GCA364718043SLC17A5c.455T>C (p.Phe152Ser)
n.221T>C
c.404T>C (p.Phe135Ser)
c.257T>C (p.Phe86Ser)
c.224T>C (p.Phe75Ser)
c.476T>C (p.Phe159Ser)
 gnomAD v4
6g.73641761A>TCA364718044SLC17A5c.455T>A (p.Phe152Tyr)
n.221T>A
c.404T>A (p.Phe135Tyr)
c.257T>A (p.Phe86Tyr)
c.224T>A (p.Phe75Tyr)
c.476T>A (p.Phe159Tyr)
6g.73641762A>CCA364718045SLC17A5c.454T>G (p.Phe152Val)
n.220T>G
c.403T>G (p.Phe135Val)
c.256T>G (p.Phe86Val)
c.223T>G (p.Phe75Val)
c.475T>G (p.Phe159Val)
6g.73641762A>GCA364718046SLC17A5c.454T>C (p.Phe152Leu)
n.220T>C
c.403T>C (p.Phe135Leu)
c.256T>C (p.Phe86Leu)
c.223T>C (p.Phe75Leu)
c.475T>C (p.Phe159Leu)
6g.73641762A>TCA364718047SLC17A5c.454T>A (p.Phe152Ile)
n.220T>A
c.403T>A (p.Phe135Ile)
c.256T>A (p.Phe86Ile)
c.223T>A (p.Phe75Ile)
c.475T>A (p.Phe159Ile)
6g.73641763C>ACA450912127SLC17A5c.453G>T (p.Leu151=)
n.219G>T
c.402G>T (p.Leu134=)
c.255G>T (p.Leu85=)
c.222G>T (p.Leu74=)
c.474G>T (p.Leu158=)
6g.73641763C=CA1638223012SLC17A5c.453G= (p.Leu151=)
n.219G=
c.402G= (p.Leu134=)
c.255G= (p.Leu85=)
c.222G= (p.Leu74=)
c.474G= (p.Leu158=)
6g.73641763C>GCA450912126SLC17A5c.453G>C (p.Leu151=)
n.219G>C
c.402G>C (p.Leu134=)
c.255G>C (p.Leu85=)
c.222G>C (p.Leu74=)
c.474G>C (p.Leu158=)
6g.73641763C>TCA3890531SLC17A5c.453G>A (p.Leu151=)
n.219G>A
c.402G>A (p.Leu134=)
c.255G>A (p.Leu85=)
c.222G>A (p.Leu74=)
c.474G>A (p.Leu158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641764A>CCA364718050SLC17A5c.452T>G (p.Leu151Arg)
n.218T>G
c.401T>G (p.Leu134Arg)
c.254T>G (p.Leu85Arg)
c.221T>G (p.Leu74Arg)
c.473T>G (p.Leu158Arg)
6g.73641764A>GCA364718048SLC17A5c.452T>C (p.Leu151Pro)
n.218T>C
c.401T>C (p.Leu134Pro)
c.254T>C (p.Leu85Pro)
c.221T>C (p.Leu74Pro)
c.473T>C (p.Leu158Pro)
6g.73641764A>TCA364718049SLC17A5c.452T>A (p.Leu151Gln)
n.218T>A
c.401T>A (p.Leu134Gln)
c.254T>A (p.Leu85Gln)
c.221T>A (p.Leu74Gln)
c.473T>A (p.Leu158Gln)
6g.73641765G>ACA450912128SLC17A5c.451C>T (p.Leu151=)
n.217C>T
c.400C>T (p.Leu134=)
c.253C>T (p.Leu85=)
c.220C>T (p.Leu74=)
c.472C>T (p.Leu158=)
6g.73641765G>CCA364718051SLC17A5c.451C>G (p.Leu151Val)
n.217C>G
c.400C>G (p.Leu134Val)
c.253C>G (p.Leu85Val)
c.220C>G (p.Leu74Val)
c.472C>G (p.Leu158Val)
6g.73641765G>TCA364718052SLC17A5c.451C>A (p.Leu151Met)
n.217C>A
c.400C>A (p.Leu134Met)
c.253C>A (p.Leu85Met)
c.220C>A (p.Leu74Met)
c.472C>A (p.Leu158Met)
6g.73641766G>ACA450912129SLC17A5c.450C>T (p.Thr150=)
n.216C>T
c.399C>T (p.Thr133=)
c.252C>T (p.Thr84=)
c.219C>T (p.Thr73=)
c.471C>T (p.Thr157=)
6g.73641766G>CCA450912130SLC17A5c.450C>G (p.Thr150=)
n.216C>G
c.399C>G (p.Thr133=)
c.252C>G (p.Thr84=)
c.219C>G (p.Thr73=)
c.471C>G (p.Thr157=)
6g.73641766G>TCA450912131SLC17A5c.450C>A (p.Thr150=)
n.216C>A
c.399C>A (p.Thr133=)
c.252C>A (p.Thr84=)
c.219C>A (p.Thr73=)
c.471C>A (p.Thr157=)
6g.73641767G>ACA364718053SLC17A5c.449C>T (p.Thr150Ile)
n.215C>T
c.398C>T (p.Thr133Ile)
c.251C>T (p.Thr84Ile)
c.218C>T (p.Thr73Ile)
c.470C>T (p.Thr157Ile)
 gnomAD v4
6g.73641767G>CCA364718054SLC17A5c.449C>G (p.Thr150Ser)
n.215C>G
c.398C>G (p.Thr133Ser)
c.251C>G (p.Thr84Ser)
c.218C>G (p.Thr73Ser)
c.470C>G (p.Thr157Ser)
6g.73641767G>TCA364718055SLC17A5c.449C>A (p.Thr150Asn)
n.215C>A
c.398C>A (p.Thr133Asn)
c.251C>A (p.Thr84Asn)
c.218C>A (p.Thr73Asn)
c.470C>A (p.Thr157Asn)
6g.73641768T>ACA364718056SLC17A5c.448A>T (p.Thr150Ser)
n.214A>T
c.397A>T (p.Thr133Ser)
c.250A>T (p.Thr84Ser)
c.217A>T (p.Thr73Ser)
c.469A>T (p.Thr157Ser)
6g.73641768T>CCA364718057SLC17A5c.448A>G (p.Thr150Ala)
n.214A>G
c.397A>G (p.Thr133Ala)
c.250A>G (p.Thr84Ala)
c.217A>G (p.Thr73Ala)
c.469A>G (p.Thr157Ala)
6g.73641768T>GCA364718058SLC17A5c.448A>C (p.Thr150Pro)
n.214A>C
c.397A>C (p.Thr133Pro)
c.250A>C (p.Thr84Pro)
c.217A>C (p.Thr73Pro)
c.469A>C (p.Thr157Pro)
6g.73641769G>ACA450912132SLC17A5c.447C>T (p.Leu149=)
n.213C>T
c.396C>T (p.Leu132=)
c.249C>T (p.Leu83=)
c.216C>T (p.Leu72=)
c.468C>T (p.Leu156=)
 ClinVar gnomAD v4
6g.73641769G>CCA450912134SLC17A5c.447C>G (p.Leu149=)
n.213C>G
c.396C>G (p.Leu132=)
c.249C>G (p.Leu83=)
c.216C>G (p.Leu72=)
c.468C>G (p.Leu156=)
6g.73641769G>TCA450912133SLC17A5c.447C>A (p.Leu149=)
n.213C>A
c.396C>A (p.Leu132=)
c.249C>A (p.Leu83=)
c.216C>A (p.Leu72=)
c.468C>A (p.Leu156=)
6g.73641770A>CCA364718059SLC17A5c.446T>G (p.Leu149Arg)
n.212T>G
c.395T>G (p.Leu132Arg)
c.248T>G (p.Leu83Arg)
c.215T>G (p.Leu72Arg)
c.467T>G (p.Leu156Arg)
6g.73641770A>GCA364718060SLC17A5c.446T>C (p.Leu149Pro)
n.212T>C
c.395T>C (p.Leu132Pro)
c.248T>C (p.Leu83Pro)
c.215T>C (p.Leu72Pro)
c.467T>C (p.Leu156Pro)
6g.73641770A>TCA364718061SLC17A5c.446T>A (p.Leu149His)
n.212T>A
c.395T>A (p.Leu132His)
c.248T>A (p.Leu83His)
c.215T>A (p.Leu72His)
c.467T>A (p.Leu156His)
6g.73641771G>ACA364718064SLC17A5c.445C>T (p.Leu149Phe)
n.211C>T
c.394C>T (p.Leu132Phe)
c.247C>T (p.Leu83Phe)
c.214C>T (p.Leu72Phe)
c.466C>T (p.Leu156Phe)
6g.73641771G>CCA364718063SLC17A5c.445C>G (p.Leu149Val)
n.211C>G
c.394C>G (p.Leu132Val)
c.247C>G (p.Leu83Val)
c.214C>G (p.Leu72Val)
c.466C>G (p.Leu156Val)
6g.73641771G>TCA364718062SLC17A5c.445C>A (p.Leu149Ile)
n.211C>A
c.394C>A (p.Leu132Ile)
c.247C>A (p.Leu83Ile)
c.214C>A (p.Leu72Ile)
c.466C>A (p.Leu156Ile)
6g.73641772G>ACA450912135SLC17A5c.444C>T (p.Val148=)
n.210C>T
c.393C>T (p.Val131=)
c.246C>T (p.Val82=)
c.213C>T (p.Val71=)
c.465C>T (p.Val155=)
 ClinVar dbSNP gnomAD v4 COSMIC
6g.73641772G>CCA3890532SLC17A5c.444C>G (p.Val148=)
n.210C>G
c.393C>G (p.Val131=)
c.246C>G (p.Val82=)
c.213C>G (p.Val71=)
c.465C>G (p.Val155=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641772G=CA1638223017SLC17A5c.444C= (p.Val148=)
n.210C=
c.393C= (p.Val131=)
c.246C= (p.Val82=)
c.213C= (p.Val71=)
c.465C= (p.Val155=)
6g.73641772G>TCA450912136SLC17A5c.444C>A (p.Val148=)
n.210C>A
c.393C>A (p.Val131=)
c.246C>A (p.Val82=)
c.213C>A (p.Val71=)
c.465C>A (p.Val155=)
6g.73641773A=CA1638223023SLC17A5c.443T= (p.Val148=)
n.209T=
c.392T= (p.Val131=)
c.245T= (p.Val82=)
c.212T= (p.Val71=)
c.464T= (p.Val155=)
6g.73641773A>CCA364718065SLC17A5c.443T>G (p.Val148Gly)
n.209T>G
c.392T>G (p.Val131Gly)
c.245T>G (p.Val82Gly)
c.212T>G (p.Val71Gly)
c.464T>G (p.Val155Gly)
6g.73641773A>GCA364718066SLC17A5c.443T>C (p.Val148Ala)
n.209T>C
c.392T>C (p.Val131Ala)
c.245T>C (p.Val82Ala)
c.212T>C (p.Val71Ala)
c.464T>C (p.Val155Ala)
6g.73641773A>TCA364718067SLC17A5c.443T>A (p.Val148Asp)
n.209T>A
c.392T>A (p.Val131Asp)
c.245T>A (p.Val82Asp)
c.212T>A (p.Val71Asp)
c.464T>A (p.Val155Asp)
 dbSNP
6g.73641774C>ACA364718068SLC17A5c.442G>T (p.Val148Phe)
n.208G>T
c.391G>T (p.Val131Phe)
c.244G>T (p.Val82Phe)
c.211G>T (p.Val71Phe)
c.463G>T (p.Val155Phe)
6g.73641774C=CA1638223027SLC17A5c.442G= (p.Val148=)
n.208G=
c.391G= (p.Val131=)
c.244G= (p.Val82=)
c.211G= (p.Val71=)
c.463G= (p.Val155=)
6g.73641774C>GCA364718069SLC17A5c.442G>C (p.Val148Leu)
n.208G>C
c.391G>C (p.Val131Leu)
c.244G>C (p.Val82Leu)
c.211G>C (p.Val71Leu)
c.463G>C (p.Val155Leu)
 gnomAD v4
6g.73641774C>TCA3890533SLC17A5c.442G>A (p.Val148Ile)
n.208G>A
c.391G>A (p.Val131Ile)
c.244G>A (p.Val82Ile)
c.211G>A (p.Val71Ile)
c.463G>A (p.Val155Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641775A>CCA450912137SLC17A5c.441T>G (p.Ala147=)
n.207T>G
c.390T>G (p.Ala130=)
c.243T>G (p.Ala81=)
c.210T>G (p.Ala70=)
c.462T>G (p.Ala154=)
6g.73641775A>GCA450912138SLC17A5c.441T>C (p.Ala147=)
n.207T>C
c.390T>C (p.Ala130=)
c.243T>C (p.Ala81=)
c.210T>C (p.Ala70=)
c.462T>C (p.Ala154=)
 ClinVar dbSNP gnomAD v4
6g.73641775A>TCA450912139SLC17A5c.441T>A (p.Ala147=)
n.207T>A
c.390T>A (p.Ala130=)
c.243T>A (p.Ala81=)
c.210T>A (p.Ala70=)
c.462T>A (p.Ala154=)
 ClinVar
6g.73641776G>ACA140975647SLC17A5c.440C>T (p.Ala147Val)
n.206C>T
c.389C>T (p.Ala130Val)
c.242C>T (p.Ala81Val)
c.209C>T (p.Ala70Val)
c.461C>T (p.Ala154Val)
 dbSNP COSMIC
6g.73641776G>CCA364718070SLC17A5c.440C>G (p.Ala147Gly)
n.206C>G
c.389C>G (p.Ala130Gly)
c.242C>G (p.Ala81Gly)
c.209C>G (p.Ala70Gly)
c.461C>G (p.Ala154Gly)
6g.73641776G=CA1638223031SLC17A5c.440C= (p.Ala147=)
n.206C=
c.389C= (p.Ala130=)
c.242C= (p.Ala81=)
c.209C= (p.Ala70=)
c.461C= (p.Ala154=)
6g.73641776G>TCA364718071SLC17A5c.440C>A (p.Ala147Asp)
n.206C>A
c.389C>A (p.Ala130Asp)
c.242C>A (p.Ala81Asp)
c.209C>A (p.Ala70Asp)
c.461C>A (p.Ala154Asp)
6g.73641777C>ACA364718072SLC17A5c.439G>T (p.Ala147Ser)
n.205G>T
c.388G>T (p.Ala130Ser)
c.241G>T (p.Ala81Ser)
c.208G>T (p.Ala70Ser)
c.460G>T (p.Ala154Ser)
6g.73641777C>GCA364718073SLC17A5c.439G>C (p.Ala147Pro)
n.205G>C
c.388G>C (p.Ala130Pro)
c.241G>C (p.Ala81Pro)
c.208G>C (p.Ala70Pro)
c.460G>C (p.Ala154Pro)
6g.73641777C>TCA364718074SLC17A5c.439G>A (p.Ala147Thr)
n.205G>A
c.388G>A (p.Ala130Thr)
c.241G>A (p.Ala81Thr)
c.208G>A (p.Ala70Thr)
c.460G>A (p.Ala154Thr)
6g.73641778A>CCA450912140SLC17A5c.438T>G (p.Thr146=)
n.204T>G
c.387T>G (p.Thr129=)
c.240T>G (p.Thr80=)
c.207T>G (p.Thr69=)
c.459T>G (p.Thr153=)
6g.73641778A>GCA450912141SLC17A5c.438T>C (p.Thr146=)
n.204T>C
c.387T>C (p.Thr129=)
c.240T>C (p.Thr80=)
c.207T>C (p.Thr69=)
c.459T>C (p.Thr153=)
6g.73641778A>TCA450912142SLC17A5c.438T>A (p.Thr146=)
n.204T>A
c.387T>A (p.Thr129=)
c.240T>A (p.Thr80=)
c.207T>A (p.Thr69=)
c.459T>A (p.Thr153=)
6g.73641779G>ACA364718077SLC17A5c.437C>T (p.Thr146Ile)
n.203C>T
c.386C>T (p.Thr129Ile)
c.239C>T (p.Thr80Ile)
c.206C>T (p.Thr69Ile)
c.458C>T (p.Thr153Ile)
6g.73641779G>CCA364718075SLC17A5c.437C>G (p.Thr146Ser)
n.203C>G
c.386C>G (p.Thr129Ser)
c.239C>G (p.Thr80Ser)
c.206C>G (p.Thr69Ser)
c.458C>G (p.Thr153Ser)
6g.73641779G>TCA364718076SLC17A5c.437C>A (p.Thr146Asn)
n.203C>A
c.386C>A (p.Thr129Asn)
c.239C>A (p.Thr80Asn)
c.206C>A (p.Thr69Asn)
c.458C>A (p.Thr153Asn)
6g.73641779_73641780insATTTAGGAGTCA2580075796SLC17A5c.436_437insACTCCTAAAT (p.Thr146AsnfsTer3)
n.202_203insACTCCTAAAT
c.385_386insACTCCTAAAT (p.Thr129AsnfsTer3)
c.238_239insACTCCTAAAT (p.Thr80AsnfsTer3)
c.205_206insACTCCTAAAT (p.Thr69AsnfsTer3)
c.457_458insACTCCTAAAT (p.Thr153AsnfsTer3)
 ClinVar
6g.73641780T>ACA364718078SLC17A5c.436A>T (p.Thr146Ser)
n.202A>T
c.385A>T (p.Thr129Ser)
c.238A>T (p.Thr80Ser)
c.205A>T (p.Thr69Ser)
c.457A>T (p.Thr153Ser)
6g.73641780T>CCA364718079SLC17A5c.436A>G (p.Thr146Ala)
n.202A>G
c.385A>G (p.Thr129Ala)
c.238A>G (p.Thr80Ala)
c.205A>G (p.Thr69Ala)
c.457A>G (p.Thr153Ala)
 dbSNP
6g.73641780T>GCA364718080SLC17A5c.436A>C (p.Thr146Pro)
n.202A>C
c.385A>C (p.Thr129Pro)
c.238A>C (p.Thr80Pro)
c.205A>C (p.Thr69Pro)
c.457A>C (p.Thr153Pro)
6g.73641780T=CA1638223037SLC17A5c.436A= (p.Thr146=)
n.202A=
c.385A= (p.Thr129=)
c.238A= (p.Thr80=)
c.205A= (p.Thr69=)
c.457A= (p.Thr153=)
6g.73641781G>ACA450912143SLC17A5c.435C>T (p.Gly145=)
n.201C>T
c.384C>T (p.Gly128=)
c.237C>T (p.Gly79=)
c.204C>T (p.Gly68=)
c.456C>T (p.Gly152=)
6g.73641781G>CCA450912144SLC17A5c.435C>G (p.Gly145=)
n.201C>G
c.384C>G (p.Gly128=)
c.237C>G (p.Gly79=)
c.204C>G (p.Gly68=)
c.456C>G (p.Gly152=)
6g.73641781G>TCA450912145SLC17A5c.435C>A (p.Gly145=)
n.201C>A
c.384C>A (p.Gly128=)
c.237C>A (p.Gly79=)
c.204C>A (p.Gly68=)
c.456C>A (p.Gly152=)
6g.73641782C>ACA364718081SLC17A5c.434G>T (p.Gly145Val)
n.200G>T
c.383G>T (p.Gly128Val)
c.236G>T (p.Gly79Val)
c.203G>T (p.Gly68Val)
c.455G>T (p.Gly152Val)
6g.73641782C>GCA364718082SLC17A5c.434G>C (p.Gly145Ala)
n.200G>C
c.383G>C (p.Gly128Ala)
c.236G>C (p.Gly79Ala)
c.203G>C (p.Gly68Ala)
c.455G>C (p.Gly152Ala)
6g.73641782C>TCA364718083SLC17A5c.434G>A (p.Gly145Asp)
n.200G>A
c.383G>A (p.Gly128Asp)
c.236G>A (p.Gly79Asp)
c.203G>A (p.Gly68Asp)
c.455G>A (p.Gly152Asp)
6g.73641783C>ACA364718084SLC17A5c.433G>T (p.Gly145Cys)
n.199G>T
c.382G>T (p.Gly128Cys)
c.235G>T (p.Gly79Cys)
c.202G>T (p.Gly68Cys)
c.454G>T (p.Gly152Cys)
6g.73641783C>GCA364718085SLC17A5c.433G>C (p.Gly145Arg)
n.199G>C
c.382G>C (p.Gly128Arg)
c.235G>C (p.Gly79Arg)
c.202G>C (p.Gly68Arg)
c.454G>C (p.Gly152Arg)
6g.73641783C>TCA364718086SLC17A5c.433G>A (p.Gly145Ser)
n.199G>A
c.382G>A (p.Gly128Ser)
c.235G>A (p.Gly79Ser)
c.202G>A (p.Gly68Ser)
c.454G>A (p.Gly152Ser)
6g.73641784A>CCA450912146SLC17A5c.432T>G (p.Leu144=)
n.198T>G
c.381T>G (p.Leu127=)
c.234T>G (p.Leu78=)
c.201T>G (p.Leu67=)
c.453T>G (p.Leu151=)
6g.73641784A>GCA450912147SLC17A5c.432T>C (p.Leu144=)
n.198T>C
c.381T>C (p.Leu127=)
c.234T>C (p.Leu78=)
c.201T>C (p.Leu67=)
c.453T>C (p.Leu151=)
6g.73641784A>TCA450912148SLC17A5c.432T>A (p.Leu144=)
n.198T>A
c.381T>A (p.Leu127=)
c.234T>A (p.Leu78=)
c.201T>A (p.Leu67=)
c.453T>A (p.Leu151=)
6g.73641785A>CCA364718087SLC17A5c.431T>G (p.Leu144Arg)
n.197T>G
c.380T>G (p.Leu127Arg)
c.233T>G (p.Leu78Arg)
c.200T>G (p.Leu67Arg)
c.452T>G (p.Leu151Arg)
6g.73641785A>GCA364718088SLC17A5c.431T>C (p.Leu144Pro)
n.197T>C
c.380T>C (p.Leu127Pro)
c.233T>C (p.Leu78Pro)
c.200T>C (p.Leu67Pro)
c.452T>C (p.Leu151Pro)
6g.73641785A>TCA364718089SLC17A5c.431T>A (p.Leu144His)
n.197T>A
c.380T>A (p.Leu127His)
c.233T>A (p.Leu78His)
c.200T>A (p.Leu67His)
c.452T>A (p.Leu151His)
6g.73641786G>ACA364718091SLC17A5c.430C>T (p.Leu144Phe)
n.196C>T
c.379C>T (p.Leu127Phe)
c.232C>T (p.Leu78Phe)
c.199C>T (p.Leu67Phe)
c.451C>T (p.Leu151Phe)
6g.73641786G>CCA364718092SLC17A5c.430C>G (p.Leu144Val)
n.196C>G
c.379C>G (p.Leu127Val)
c.232C>G (p.Leu78Val)
c.199C>G (p.Leu67Val)
c.451C>G (p.Leu151Val)
6g.73641786G>TCA364718090SLC17A5c.430C>A (p.Leu144Ile)
n.196C>A
c.379C>A (p.Leu127Ile)
c.232C>A (p.Leu78Ile)
c.199C>A (p.Leu67Ile)
c.451C>A (p.Leu151Ile)
6g.73641787G>ACA450912149SLC17A5c.429C>T (p.Ile143=)
n.195C>T
c.378C>T (p.Ile126=)
c.231C>T (p.Ile77=)
c.198C>T (p.Ile66=)
c.450C>T (p.Ile150=)
 gnomAD v4
6g.73641787G>CCA364718093SLC17A5c.429C>G (p.Ile143Met)
n.195C>G
c.378C>G (p.Ile126Met)
c.231C>G (p.Ile77Met)
c.198C>G (p.Ile66Met)
c.450C>G (p.Ile150Met)
6g.73641787G>TCA450912150SLC17A5c.429C>A (p.Ile143=)
n.195C>A
c.378C>A (p.Ile126=)
c.231C>A (p.Ile77=)
c.198C>A (p.Ile66=)
c.450C>A (p.Ile150=)
6g.73641788A>CCA364718094SLC17A5c.428T>G (p.Ile143Ser)
n.194T>G
c.377T>G (p.Ile126Ser)
c.230T>G (p.Ile77Ser)
c.197T>G (p.Ile66Ser)
c.449T>G (p.Ile150Ser)
6g.73641788A>GCA364718095SLC17A5c.428T>C (p.Ile143Thr)
n.194T>C
c.377T>C (p.Ile126Thr)
c.230T>C (p.Ile77Thr)
c.197T>C (p.Ile66Thr)
c.449T>C (p.Ile150Thr)
 gnomAD v4
6g.73641788A>TCA364718096SLC17A5c.428T>A (p.Ile143Asn)
n.194T>A
c.377T>A (p.Ile126Asn)
c.230T>A (p.Ile77Asn)
c.197T>A (p.Ile66Asn)
c.449T>A (p.Ile150Asn)
 COSMIC
6g.73641789T>ACA364718097SLC17A5c.427A>T (p.Ile143Phe)
n.193A>T
c.376A>T (p.Ile126Phe)
c.229A>T (p.Ile77Phe)
c.196A>T (p.Ile66Phe)
c.448A>T (p.Ile150Phe)
 dbSNP gnomAD v2 gnomAD v4
6g.73641789T>CCA364718098SLC17A5c.427A>G (p.Ile143Val)
n.193A>G
c.376A>G (p.Ile126Val)
c.229A>G (p.Ile77Val)
c.196A>G (p.Ile66Val)
c.448A>G (p.Ile150Val)
 gnomAD v4
6g.73641789T>GCA364718099SLC17A5c.427A>C (p.Ile143Leu)
n.193A>C
c.376A>C (p.Ile126Leu)
c.229A>C (p.Ile77Leu)
c.196A>C (p.Ile66Leu)
c.448A>C (p.Ile150Leu)
 dbSNP
6g.73641789T=CA1638223039SLC17A5c.427A= (p.Ile143=)
n.193A=
c.376A= (p.Ile126=)
c.229A= (p.Ile77=)
c.196A= (p.Ile66=)
c.448A= (p.Ile150=)
6g.73641790C>ACA450912152SLC17A5c.426G>T (p.Gly142=)
n.192G>T
c.375G>T (p.Gly125=)
c.228G>T (p.Gly76=)
c.195G>T (p.Gly65=)
c.447G>T (p.Gly149=)
 gnomAD v4
6g.73641790C>GCA450912153SLC17A5c.426G>C (p.Gly142=)
n.192G>C
c.375G>C (p.Gly125=)
c.228G>C (p.Gly76=)
c.195G>C (p.Gly65=)
c.447G>C (p.Gly149=)
6g.73641790C>TCA450912151SLC17A5c.426G>A (p.Gly142=)
n.192G>A
c.375G>A (p.Gly125=)
c.228G>A (p.Gly76=)
c.195G>A (p.Gly65=)
c.447G>A (p.Gly149=)
6g.73641791C>ACA364718102SLC17A5c.425G>T (p.Gly142Val)
n.191G>T
c.374G>T (p.Gly125Val)
c.227G>T (p.Gly76Val)
c.194G>T (p.Gly65Val)
c.446G>T (p.Gly149Val)
 gnomAD v4
6g.73641791C>GCA364718101SLC17A5c.425G>C (p.Gly142Ala)
n.191G>C
c.374G>C (p.Gly125Ala)
c.227G>C (p.Gly76Ala)
c.194G>C (p.Gly65Ala)
c.446G>C (p.Gly149Ala)
6g.73641791C>TCA364718100SLC17A5c.425G>A (p.Gly142Glu)
n.191G>A
c.374G>A (p.Gly125Glu)
c.227G>A (p.Gly76Glu)
c.194G>A (p.Gly65Glu)
c.446G>A (p.Gly149Glu)
6g.73641792C>ACA364718103SLC17A5c.424G>T (p.Gly142Trp)
n.190G>T
c.373G>T (p.Gly125Trp)
c.226G>T (p.Gly76Trp)
c.193G>T (p.Gly65Trp)
c.445G>T (p.Gly149Trp)
6g.73641792C>GCA364718104SLC17A5c.424G>C (p.Gly142Arg)
n.190G>C
c.373G>C (p.Gly125Arg)
c.226G>C (p.Gly76Arg)
c.193G>C (p.Gly65Arg)
c.445G>C (p.Gly149Arg)
 gnomAD v4
6g.73641792C>TCA364718105SLC17A5c.424G>A (p.Gly142Arg)
n.190G>A
c.373G>A (p.Gly125Arg)
c.226G>A (p.Gly76Arg)
c.193G>A (p.Gly65Arg)
c.445G>A (p.Gly149Arg)
6g.73641792_73641793delinsCACA1638223042SLC17A5c.423_424delinsTG (p.Phe141=)
n.189_190delinsTG
c.372_373delinsTG (p.Phe124=)
c.225_226delinsTG (p.Phe75=)
c.192_193delinsTG (p.Phe64=)
c.444_445delinsTG (p.Phe148=)
6g.73641793A>CCA364718106SLC17A5c.423T>G (p.Phe141Leu)
n.189T>G
c.372T>G (p.Phe124Leu)
c.225T>G (p.Phe75Leu)
c.192T>G (p.Phe64Leu)
c.444T>G (p.Phe148Leu)
6g.73641793A>GCA450912154SLC17A5c.423T>C (p.Phe141=)
n.189T>C
c.372T>C (p.Phe124=)
c.225T>C (p.Phe75=)
c.192T>C (p.Phe64=)
c.444T>C (p.Phe148=)
6g.73641793A>TCA364718107SLC17A5c.423T>A (p.Phe141Leu)
n.189T>A
c.372T>A (p.Phe124Leu)
c.225T>A (p.Phe75Leu)
c.192T>A (p.Phe64Leu)
c.444T>A (p.Phe148Leu)
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.73641794A>CCA364718108SLC17A5c.422T>G (p.Phe141Cys)
n.188T>G
c.371T>G (p.Phe124Cys)
c.224T>G (p.Phe75Cys)
c.191T>G (p.Phe64Cys)
c.443T>G (p.Phe148Cys)
6g.73641794A>GCA364718110SLC17A5c.422T>C (p.Phe141Ser)
n.188T>C
c.371T>C (p.Phe124Ser)
c.224T>C (p.Phe75Ser)
c.191T>C (p.Phe64Ser)
c.443T>C (p.Phe148Ser)
6g.73641794A>TCA364718109SLC17A5c.422T>A (p.Phe141Tyr)
n.188T>A
c.371T>A (p.Phe124Tyr)
c.224T>A (p.Phe75Tyr)
c.191T>A (p.Phe64Tyr)
c.443T>A (p.Phe148Tyr)
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)

Number of alleles fetched