Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
6g.73641896G>ACA364718319SLC17A5c.320C>T (p.Thr107Ile)
n.86C>T
c.269C>T (p.Thr90Ile)
c.122C>T (p.Thr41Ile)
c.89C>T (p.Thr30Ile)
c.341C>T (p.Thr114Ile)
6g.73641896G>CCA364718321SLC17A5c.320C>G (p.Thr107Ser)
n.86C>G
c.269C>G (p.Thr90Ser)
c.122C>G (p.Thr41Ser)
c.89C>G (p.Thr30Ser)
c.341C>G (p.Thr114Ser)
6g.73641896G>TCA364718320SLC17A5c.320C>A (p.Thr107Asn)
n.86C>A
c.269C>A (p.Thr90Asn)
c.122C>A (p.Thr41Asn)
c.89C>A (p.Thr30Asn)
c.341C>A (p.Thr114Asn)
6g.73641897T>ACA364718322SLC17A5c.319A>T (p.Thr107Ser)
n.85A>T
c.268A>T (p.Thr90Ser)
c.121A>T (p.Thr41Ser)
c.88A>T (p.Thr30Ser)
c.340A>T (p.Thr114Ser)
6g.73641897T>CCA364718324SLC17A5c.319A>G (p.Thr107Ala)
n.85A>G
c.268A>G (p.Thr90Ala)
c.121A>G (p.Thr41Ala)
c.88A>G (p.Thr30Ala)
c.340A>G (p.Thr114Ala)
6g.73641897T>GCA364718323SLC17A5c.319A>C (p.Thr107Pro)
n.85A>C
c.268A>C (p.Thr90Pro)
c.121A>C (p.Thr41Pro)
c.88A>C (p.Thr30Pro)
c.340A>C (p.Thr114Pro)
6g.73641898T>ACA364718325SLC17A5c.318A>T (p.Glu106Asp)
n.84A>T
c.267A>T (p.Glu89Asp)
c.120A>T (p.Glu40Asp)
c.87A>T (p.Glu29Asp)
c.339A>T (p.Glu113Asp)
6g.73641898T>CCA450912224SLC17A5c.318A>G (p.Glu106=)
n.84A>G
c.267A>G (p.Glu89=)
c.120A>G (p.Glu40=)
c.87A>G (p.Glu29=)
c.339A>G (p.Glu113=)
6g.73641898T>GCA364718326SLC17A5c.318A>C (p.Glu106Asp)
n.84A>C
c.267A>C (p.Glu89Asp)
c.120A>C (p.Glu40Asp)
c.87A>C (p.Glu29Asp)
c.339A>C (p.Glu113Asp)
6g.73641899T>ACA364718327SLC17A5c.317A>T (p.Glu106Val)
n.83A>T
c.266A>T (p.Glu89Val)
c.119A>T (p.Glu40Val)
c.86A>T (p.Glu29Val)
c.338A>T (p.Glu113Val)
6g.73641899T>CCA364718328SLC17A5c.317A>G (p.Glu106Gly)
n.83A>G
c.266A>G (p.Glu89Gly)
c.119A>G (p.Glu40Gly)
c.86A>G (p.Glu29Gly)
c.338A>G (p.Glu113Gly)
6g.73641899T>GCA364718329SLC17A5c.317A>C (p.Glu106Ala)
n.83A>C
c.266A>C (p.Glu89Ala)
c.119A>C (p.Glu40Ala)
c.86A>C (p.Glu29Ala)
c.338A>C (p.Glu113Ala)
6g.73641900C>ACA364718330SLC17A5c.316G>T (p.Glu106Ter)
n.82G>T
c.265G>T (p.Glu89Ter)
c.118G>T (p.Glu40Ter)
c.85G>T (p.Glu29Ter)
c.337G>T (p.Glu113Ter)
6g.73641900C>GCA364718331SLC17A5c.316G>C (p.Glu106Gln)
n.82G>C
c.265G>C (p.Glu89Gln)
c.118G>C (p.Glu40Gln)
c.85G>C (p.Glu29Gln)
c.337G>C (p.Glu113Gln)
6g.73641900C>TCA364718332SLC17A5c.316G>A (p.Glu106Lys)
n.82G>A
c.265G>A (p.Glu89Lys)
c.118G>A (p.Glu40Lys)
c.85G>A (p.Glu29Lys)
c.337G>A (p.Glu113Lys)
 ClinVar
6g.73641901T>ACA450912225SLC17A5c.315A>T (p.Ala105=)
n.81A>T
c.264A>T (p.Ala88=)
c.117A>T (p.Ala39=)
c.84A>T (p.Ala28=)
c.336A>T (p.Ala112=)
6g.73641901T>CCA450912226SLC17A5c.315A>G (p.Ala105=)
n.81A>G
c.264A>G (p.Ala88=)
c.117A>G (p.Ala39=)
c.84A>G (p.Ala28=)
c.336A>G (p.Ala112=)
6g.73641901T>GCA450912227SLC17A5c.315A>C (p.Ala105=)
n.81A>C
c.264A>C (p.Ala88=)
c.117A>C (p.Ala39=)
c.84A>C (p.Ala28=)
c.336A>C (p.Ala112=)
6g.73641902G>ACA364718333SLC17A5c.314C>T (p.Ala105Val)
n.80C>T
c.263C>T (p.Ala88Val)
c.116C>T (p.Ala39Val)
c.83C>T (p.Ala28Val)
c.335C>T (p.Ala112Val)
6g.73641902G>CCA364718334SLC17A5c.314C>G (p.Ala105Gly)
n.80C>G
c.263C>G (p.Ala88Gly)
c.116C>G (p.Ala39Gly)
c.83C>G (p.Ala28Gly)
c.335C>G (p.Ala112Gly)
6g.73641902G>TCA364718335SLC17A5c.314C>A (p.Ala105Glu)
n.80C>A
c.263C>A (p.Ala88Glu)
c.116C>A (p.Ala39Glu)
c.83C>A (p.Ala28Glu)
c.335C>A (p.Ala112Glu)
6g.73641903C>ACA364718336SLC17A5c.313G>T (p.Ala105Ser)
n.79G>T
c.262G>T (p.Ala88Ser)
c.115G>T (p.Ala39Ser)
c.82G>T (p.Ala28Ser)
c.334G>T (p.Ala112Ser)
6g.73641903C>GCA364718337SLC17A5c.313G>C (p.Ala105Pro)
n.79G>C
c.262G>C (p.Ala88Pro)
c.115G>C (p.Ala39Pro)
c.82G>C (p.Ala28Pro)
c.334G>C (p.Ala112Pro)
6g.73641903C>TCA364718338SLC17A5c.313G>A (p.Ala105Thr)
n.79G>A
c.262G>A (p.Ala88Thr)
c.115G>A (p.Ala39Thr)
c.82G>A (p.Ala28Thr)
c.334G>A (p.Ala112Thr)
6g.73641904A>CCA364718339SLC17A5c.312T>G (p.Asp104Glu)
n.78T>G
c.261T>G (p.Asp87Glu)
c.114T>G (p.Asp38Glu)
c.81T>G (p.Asp27Glu)
c.333T>G (p.Asp111Glu)
6g.73641904A>GCA450912228SLC17A5c.312T>C (p.Asp104=)
n.78T>C
c.261T>C (p.Asp87=)
c.114T>C (p.Asp38=)
c.81T>C (p.Asp27=)
c.333T>C (p.Asp111=)
6g.73641904A>TCA364718340SLC17A5c.312T>A (p.Asp104Glu)
n.78T>A
c.261T>A (p.Asp87Glu)
c.114T>A (p.Asp38Glu)
c.81T>A (p.Asp27Glu)
c.333T>A (p.Asp111Glu)
6g.73641905T>ACA364718341SLC17A5c.311A>T (p.Asp104Val)
n.77A>T
c.260A>T (p.Asp87Val)
c.113A>T (p.Asp38Val)
c.80A>T (p.Asp27Val)
c.332A>T (p.Asp111Val)
 gnomAD v4
6g.73641905T>CCA364718342SLC17A5c.311A>G (p.Asp104Gly)
n.77A>G
c.260A>G (p.Asp87Gly)
c.113A>G (p.Asp38Gly)
c.80A>G (p.Asp27Gly)
c.332A>G (p.Asp111Gly)
6g.73641905T>GCA364718343SLC17A5c.311A>C (p.Asp104Ala)
n.77A>C
c.260A>C (p.Asp87Ala)
c.113A>C (p.Asp38Ala)
c.80A>C (p.Asp27Ala)
c.332A>C (p.Asp111Ala)
6g.73641905_73641922delinsTCCCATTGGTACTTCTTACA1638223232SLC17A5c.294_311delinsTAAGAAGTACCAATGGGA (p.Gly98=)
n.60_77delinsTAAGAAGTACCAATGGGA
c.243_260delinsTAAGAAGTACCAATGGGA (p.Gly81=)
c.96_113delinsTAAGAAGTACCAATGGGA (p.Gly32=)
c.63_80delinsTAAGAAGTACCAATGGGA (p.Gly21=)
c.315_332delinsTAAGAAGTACCAATGGGA (p.Gly105=)
6g.73641906C>ACA364718344SLC17A5c.310G>T (p.Asp104Tyr)
n.76G>T
c.259G>T (p.Asp87Tyr)
c.112G>T (p.Asp38Tyr)
c.79G>T (p.Asp27Tyr)
c.331G>T (p.Asp111Tyr)
6g.73641906C>GCA364718345SLC17A5c.310G>C (p.Asp104His)
n.76G>C
c.259G>C (p.Asp87His)
c.112G>C (p.Asp38His)
c.79G>C (p.Asp27His)
c.331G>C (p.Asp111His)
6g.73641906C>TCA364718346SLC17A5c.310G>A (p.Asp104Asn)
n.76G>A
c.259G>A (p.Asp87Asn)
c.112G>A (p.Asp38Asn)
c.79G>A (p.Asp27Asn)
c.331G>A (p.Asp111Asn)
 ClinVar dbSNP gnomAD v4
6g.73641909_73641925delCA827974943SLC17A5c.294_310del
n.60_76del
c.243_259del
c.96_112del
c.63_79del
c.315_331del
 ClinVar dbSNP gnomAD v4
6g.73641907C>ACA364718347SLC17A5c.309G>T (p.Trp103Cys)
n.75G>T
c.258G>T (p.Trp86Cys)
c.111G>T (p.Trp37Cys)
c.78G>T (p.Trp26Cys)
c.330G>T (p.Trp110Cys)
6g.73641907C=CA1638223238SLC17A5c.309G= (p.Trp103=)
n.75G=
c.258G= (p.Trp86=)
c.111G= (p.Trp37=)
c.78G= (p.Trp26=)
c.330G= (p.Trp110=)
6g.73641907C>GCA364718348SLC17A5c.309G>C (p.Trp103Cys)
n.75G>C
c.258G>C (p.Trp86Cys)
c.111G>C (p.Trp37Cys)
c.78G>C (p.Trp26Cys)
c.330G>C (p.Trp110Cys)
6g.73641907C>TCA263925SLC17A5c.309G>A (p.Trp103Ter)
n.75G>A
c.258G>A (p.Trp86Ter)
c.111G>A (p.Trp37Ter)
c.78G>A (p.Trp26Ter)
c.330G>A (p.Trp110Ter)
 ClinVar dbSNP
6g.73641908C>ACA364718349SLC17A5c.308G>T (p.Trp103Leu)
n.74G>T
c.257G>T (p.Trp86Leu)
c.110G>T (p.Trp37Leu)
c.77G>T (p.Trp26Leu)
c.329G>T (p.Trp110Leu)
 dbSNP gnomAD v2
6g.73641908C=CA1638223243SLC17A5c.308G= (p.Trp103=)
n.74G=
c.257G= (p.Trp86=)
c.110G= (p.Trp37=)
c.77G= (p.Trp26=)
c.329G= (p.Trp110=)
6g.73641908C>GCA364718350SLC17A5c.308G>C (p.Trp103Ser)
n.74G>C
c.257G>C (p.Trp86Ser)
c.110G>C (p.Trp37Ser)
c.77G>C (p.Trp26Ser)
c.329G>C (p.Trp110Ser)
6g.73641908C>TCA364718351SLC17A5c.308G>A (p.Trp103Ter)
n.74G>A
c.257G>A (p.Trp86Ter)
c.110G>A (p.Trp37Ter)
c.77G>A (p.Trp26Ter)
c.329G>A (p.Trp110Ter)
 ClinVar
6g.73641909A=CA1638223248SLC17A5c.307T= (p.Trp103=)
n.73T=
c.256T= (p.Trp86=)
c.109T= (p.Trp37=)
c.76T= (p.Trp26=)
c.328T= (p.Trp110=)
6g.73641909A>CCA364718352SLC17A5c.307T>G (p.Trp103Gly)
n.73T>G
c.256T>G (p.Trp86Gly)
c.109T>G (p.Trp37Gly)
c.76T>G (p.Trp26Gly)
c.328T>G (p.Trp110Gly)
6g.73641909A>GCA364718354SLC17A5c.307T>C (p.Trp103Arg)
n.73T>C
c.256T>C (p.Trp86Arg)
c.109T>C (p.Trp37Arg)
c.76T>C (p.Trp26Arg)
c.328T>C (p.Trp110Arg)
 dbSNP
6g.73641909A>TCA364718353SLC17A5c.307T>A (p.Trp103Arg)
n.73T>A
c.256T>A (p.Trp86Arg)
c.109T>A (p.Trp37Arg)
c.76T>A (p.Trp26Arg)
c.328T>A (p.Trp110Arg)
6g.73641910T>ACA364718355SLC17A5c.306A>T (p.Gln102His)
n.72A>T
c.255A>T (p.Gln85His)
c.108A>T (p.Gln36His)
c.75A>T (p.Gln25His)
c.327A>T (p.Gln109His)
6g.73641910T>CCA450912232SLC17A5c.306A>G (p.Gln102=)
n.72A>G
c.255A>G (p.Gln85=)
c.108A>G (p.Gln36=)
c.75A>G (p.Gln25=)
c.327A>G (p.Gln109=)
 ClinVar dbSNP gnomAD v4
6g.73641910T>GCA364718356SLC17A5c.306A>C (p.Gln102His)
n.72A>C
c.255A>C (p.Gln85His)
c.108A>C (p.Gln36His)
c.75A>C (p.Gln25His)
c.327A>C (p.Gln109His)
6g.73641911T>ACA364718357SLC17A5c.305A>T (p.Gln102Leu)
n.71A>T
c.254A>T (p.Gln85Leu)
c.107A>T (p.Gln36Leu)
c.74A>T (p.Gln25Leu)
c.326A>T (p.Gln109Leu)
6g.73641911T>CCA364718358SLC17A5c.305A>G (p.Gln102Arg)
n.71A>G
c.254A>G (p.Gln85Arg)
c.107A>G (p.Gln36Arg)
c.74A>G (p.Gln25Arg)
c.326A>G (p.Gln109Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.73641911T>GCA364718359SLC17A5c.305A>C (p.Gln102Pro)
n.71A>C
c.254A>C (p.Gln85Pro)
c.107A>C (p.Gln36Pro)
c.74A>C (p.Gln25Pro)
c.326A>C (p.Gln109Pro)
6g.73641911T=CA1638223251SLC17A5c.305A= (p.Gln102=)
n.71A=
c.254A= (p.Gln85=)
c.107A= (p.Gln36=)
c.74A= (p.Gln25=)
c.326A= (p.Gln109=)
6g.73641912G>ACA364718360SLC17A5c.304C>T (p.Gln102Ter)
n.70C>T
c.253C>T (p.Gln85Ter)
c.106C>T (p.Gln36Ter)
c.73C>T (p.Gln25Ter)
c.325C>T (p.Gln109Ter)
6g.73641912G>CCA364718361SLC17A5c.304C>G (p.Gln102Glu)
n.70C>G
c.253C>G (p.Gln85Glu)
c.106C>G (p.Gln36Glu)
c.73C>G (p.Gln25Glu)
c.325C>G (p.Gln109Glu)
6g.73641912G=CA1638223254SLC17A5c.304C= (p.Gln102=)
n.70C=
c.253C= (p.Gln85=)
c.106C= (p.Gln36=)
c.73C= (p.Gln25=)
c.325C= (p.Gln109=)
6g.73641912G>TCA364718362SLC17A5c.304C>A (p.Gln102Lys)
n.70C>A
c.253C>A (p.Gln85Lys)
c.106C>A (p.Gln36Lys)
c.73C>A (p.Gln25Lys)
c.325C>A (p.Gln109Lys)
 dbSNP gnomAD v2 gnomAD v4
6g.73641913G>ACA450912233SLC17A5c.303C>T (p.Tyr101=)
n.69C>T
c.252C>T (p.Tyr84=)
c.105C>T (p.Tyr35=)
c.72C>T (p.Tyr24=)
c.324C>T (p.Tyr108=)
6g.73641913G>CCA364718363SLC17A5c.303C>G (p.Tyr101Ter)
n.69C>G
c.252C>G (p.Tyr84Ter)
c.105C>G (p.Tyr35Ter)
c.72C>G (p.Tyr24Ter)
c.324C>G (p.Tyr108Ter)
6g.73641913G>TCA364718364SLC17A5c.303C>A (p.Tyr101Ter)
n.69C>A
c.252C>A (p.Tyr84Ter)
c.105C>A (p.Tyr35Ter)
c.72C>A (p.Tyr24Ter)
c.324C>A (p.Tyr108Ter)
6g.73641914T>ACA364718367SLC17A5c.302A>T (p.Tyr101Phe)
n.68A>T
c.251A>T (p.Tyr84Phe)
c.104A>T (p.Tyr35Phe)
c.71A>T (p.Tyr24Phe)
c.323A>T (p.Tyr108Phe)
 dbSNP
6g.73641914T>CCA364718366SLC17A5c.302A>G (p.Tyr101Cys)
n.68A>G
c.251A>G (p.Tyr84Cys)
c.104A>G (p.Tyr35Cys)
c.71A>G (p.Tyr24Cys)
c.323A>G (p.Tyr108Cys)
6g.73641914T>GCA364718365SLC17A5c.302A>C (p.Tyr101Ser)
n.68A>C
c.251A>C (p.Tyr84Ser)
c.104A>C (p.Tyr35Ser)
c.71A>C (p.Tyr24Ser)
c.323A>C (p.Tyr108Ser)
6g.73641915A=CA1638223258SLC17A5c.301T= (p.Tyr101=)
n.67T=
c.250T= (p.Tyr84=)
c.103T= (p.Tyr35=)
c.70T= (p.Tyr24=)
c.322T= (p.Tyr108=)
6g.73641915A>CCA364718368SLC17A5c.301T>G (p.Tyr101Asp)
n.67T>G
c.250T>G (p.Tyr84Asp)
c.103T>G (p.Tyr35Asp)
c.70T>G (p.Tyr24Asp)
c.322T>G (p.Tyr108Asp)
6g.73641915A>GCA364718369SLC17A5c.301T>C (p.Tyr101His)
n.67T>C
c.250T>C (p.Tyr84His)
c.103T>C (p.Tyr35His)
c.70T>C (p.Tyr24His)
c.322T>C (p.Tyr108His)
6g.73641915A>TCA364718370SLC17A5c.301T>A (p.Tyr101Asn)
n.67T>A
c.250T>A (p.Tyr84Asn)
c.103T>A (p.Tyr35Asn)
c.70T>A (p.Tyr24Asn)
c.322T>A (p.Tyr108Asn)
 dbSNP gnomAD v3 gnomAD v4
6g.73641916C>ACA364718371SLC17A5c.300G>T (p.Lys100Asn)
n.66G>T
c.249G>T (p.Lys83Asn)
c.102G>T (p.Lys34Asn)
c.69G>T (p.Lys23Asn)
c.321G>T (p.Lys107Asn)
6g.73641916C=CA1638223265SLC17A5c.300G= (p.Lys100=)
n.66G=
c.249G= (p.Lys83=)
c.102G= (p.Lys34=)
c.69G= (p.Lys23=)
c.321G= (p.Lys107=)
6g.73641916C>GCA364718372SLC17A5c.300G>C (p.Lys100Asn)
n.66G>C
c.249G>C (p.Lys83Asn)
c.102G>C (p.Lys34Asn)
c.69G>C (p.Lys23Asn)
c.321G>C (p.Lys107Asn)
 gnomAD v4
6g.73641916C>TCA3890555SLC17A5c.300G>A (p.Lys100=)
n.66G>A
c.249G>A (p.Lys83=)
c.102G>A (p.Lys34=)
c.69G>A (p.Lys23=)
c.321G>A (p.Lys107=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641917T>ACA364718373SLC17A5c.299A>T (p.Lys100Met)
n.65A>T
c.248A>T (p.Lys83Met)
c.101A>T (p.Lys34Met)
c.68A>T (p.Lys23Met)
c.320A>T (p.Lys107Met)
6g.73641917T>CCA364718374SLC17A5c.299A>G (p.Lys100Arg)
n.65A>G
c.248A>G (p.Lys83Arg)
c.101A>G (p.Lys34Arg)
c.68A>G (p.Lys23Arg)
c.320A>G (p.Lys107Arg)
6g.73641917T>GCA364718375SLC17A5c.299A>C (p.Lys100Thr)
n.65A>C
c.248A>C (p.Lys83Thr)
c.101A>C (p.Lys34Thr)
c.68A>C (p.Lys23Thr)
c.320A>C (p.Lys107Thr)
6g.73641918T>ACA364718376SLC17A5c.298A>T (p.Lys100Ter)
n.64A>T
c.247A>T (p.Lys83Ter)
c.100A>T (p.Lys34Ter)
c.67A>T (p.Lys23Ter)
c.319A>T (p.Lys107Ter)
6g.73641918T>CCA364718377SLC17A5c.298A>G (p.Lys100Glu)
n.64A>G
c.247A>G (p.Lys83Glu)
c.100A>G (p.Lys34Glu)
c.67A>G (p.Lys23Glu)
c.319A>G (p.Lys107Glu)
6g.73641918T>GCA364718378SLC17A5c.298A>C (p.Lys100Gln)
n.64A>C
c.247A>C (p.Lys83Gln)
c.100A>C (p.Lys34Gln)
c.67A>C (p.Lys23Gln)
c.319A>C (p.Lys107Gln)
6g.73641919C>ACA364718379SLC17A5c.297G>T (p.Lys99Asn)
n.63G>T
c.246G>T (p.Lys82Asn)
c.99G>T (p.Lys33Asn)
c.66G>T (p.Lys22Asn)
c.318G>T (p.Lys106Asn)
6g.73641919C=CA1638223273SLC17A5c.297G= (p.Lys99=)
n.63G=
c.246G= (p.Lys82=)
c.99G= (p.Lys33=)
c.66G= (p.Lys22=)
c.318G= (p.Lys106=)
6g.73641919C>GCA364718380SLC17A5c.297G>C (p.Lys99Asn)
n.63G>C
c.246G>C (p.Lys82Asn)
c.99G>C (p.Lys33Asn)
c.66G>C (p.Lys22Asn)
c.318G>C (p.Lys106Asn)
6g.73641919C>TCA3890556SLC17A5c.297G>A (p.Lys99=)
n.63G>A
c.246G>A (p.Lys82=)
c.99G>A (p.Lys33=)
c.66G>A (p.Lys22=)
c.318G>A (p.Lys106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.73641920T>ACA364718382SLC17A5c.296A>T (p.Lys99Met)
n.62A>T
c.245A>T (p.Lys82Met)
c.98A>T (p.Lys33Met)
c.65A>T (p.Lys22Met)
c.317A>T (p.Lys106Met)
 dbSNP gnomAD v2 gnomAD v4
6g.73641920T>CCA3890557SLC17A5c.296A>G (p.Lys99Arg)
n.62A>G
c.245A>G (p.Lys82Arg)
c.98A>G (p.Lys33Arg)
c.65A>G (p.Lys22Arg)
c.317A>G (p.Lys106Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641920T>GCA364718381SLC17A5c.296A>C (p.Lys99Thr)
n.62A>C
c.245A>C (p.Lys82Thr)
c.98A>C (p.Lys33Thr)
c.65A>C (p.Lys22Thr)
c.317A>C (p.Lys106Thr)
6g.73641920T=CA1638223281SLC17A5c.296A= (p.Lys99=)
n.62A=
c.245A= (p.Lys82=)
c.98A= (p.Lys33=)
c.65A= (p.Lys22=)
c.317A= (p.Lys106=)
6g.73641921T>ACA364718383SLC17A5c.295A>T (p.Lys99Ter)
n.61A>T
c.244A>T (p.Lys82Ter)
c.97A>T (p.Lys33Ter)
c.64A>T (p.Lys22Ter)
c.316A>T (p.Lys106Ter)
6g.73641921T>CCA3890558SLC17A5c.295A>G (p.Lys99Glu)
n.61A>G
c.244A>G (p.Lys82Glu)
c.97A>G (p.Lys33Glu)
c.64A>G (p.Lys22Glu)
c.316A>G (p.Lys106Glu)
 dbSNP ExAC gnomAD v4
6g.73641921T>GCA364718384SLC17A5c.295A>C (p.Lys99Gln)
n.61A>C
c.244A>C (p.Lys82Gln)
c.97A>C (p.Lys33Gln)
c.64A>C (p.Lys22Gln)
c.316A>C (p.Lys106Gln)
6g.73641921T=CA1638223284SLC17A5c.295A= (p.Lys99=)
n.61A=
c.244A= (p.Lys82=)
c.97A= (p.Lys33=)
c.64A= (p.Lys22=)
c.316A= (p.Lys106=)
6g.73641922A>CCA450912237SLC17A5c.294T>G (p.Gly98=)
n.60T>G
c.243T>G (p.Gly81=)
c.96T>G (p.Gly32=)
c.63T>G (p.Gly21=)
c.315T>G (p.Gly105=)
6g.73641922A>GCA450912235SLC17A5c.294T>C (p.Gly98=)
n.60T>C
c.243T>C (p.Gly81=)
c.96T>C (p.Gly32=)
c.63T>C (p.Gly21=)
c.315T>C (p.Gly105=)
 ClinVar dbSNP
6g.73641922A>TCA450912236SLC17A5c.294T>A (p.Gly98=)
n.60T>A
c.243T>A (p.Gly81=)
c.96T>A (p.Gly32=)
c.63T>A (p.Gly21=)
c.315T>A (p.Gly105=)
6g.73641923C>ACA364718387SLC17A5c.293G>T (p.Gly98Val)
n.59G>T
c.242G>T (p.Gly81Val)
c.95G>T (p.Gly32Val)
c.62G>T (p.Gly21Val)
c.314G>T (p.Gly105Val)
 gnomAD v4
6g.73641923C=CA1638223285SLC17A5c.293G= (p.Gly98=)
n.59G=
c.242G= (p.Gly81=)
c.95G= (p.Gly32=)
c.62G= (p.Gly21=)
c.314G= (p.Gly105=)
6g.73641923C>GCA364718386SLC17A5c.293G>C (p.Gly98Ala)
n.59G>C
c.242G>C (p.Gly81Ala)
c.95G>C (p.Gly32Ala)
c.62G>C (p.Gly21Ala)
c.314G>C (p.Gly105Ala)
6g.73641923C>TCA364718385SLC17A5c.293G>A (p.Gly98Asp)
n.59G>A
c.242G>A (p.Gly81Asp)
c.95G>A (p.Gly32Asp)
c.62G>A (p.Gly21Asp)
c.314G>A (p.Gly105Asp)
 dbSNP gnomAD v2 gnomAD v4
6g.73641924C>ACA364718388SLC17A5c.292G>T (p.Gly98Cys)
n.58G>T
c.241G>T (p.Gly81Cys)
c.94G>T (p.Gly32Cys)
c.61G>T (p.Gly21Cys)
c.313G>T (p.Gly105Cys)
6g.73641924C>GCA364718389SLC17A5c.292G>C (p.Gly98Arg)
n.58G>C
c.241G>C (p.Gly81Arg)
c.94G>C (p.Gly32Arg)
c.61G>C (p.Gly21Arg)
c.313G>C (p.Gly105Arg)
6g.73641924C>TCA364718390SLC17A5c.292G>A (p.Gly98Ser)
n.58G>A
c.241G>A (p.Gly81Ser)
c.94G>A (p.Gly32Ser)
c.61G>A (p.Gly21Ser)
c.313G>A (p.Gly105Ser)
6g.73641925C>ACA364718391SLC17A5c.292-1G>T (n.292-1G>T)
n.58-1G>T
c.241-1G>T (n.241-1G>T)
c.94-1G>T (n.94-1G>T)
c.61-1G>T (n.61-1G>T)
c.313-1G>T (n.313-1G>T)
6g.73641925C=CA1638223286SLC17A5c.292-1G= (n.292-1G=)
n.58-1G=
c.241-1G= (n.241-1G=)
c.94-1G= (n.94-1G=)
c.61-1G= (n.61-1G=)
c.313-1G= (n.313-1G=)
6g.73641925C>GCA364718392SLC17A5c.292-1G>C (n.292-1G>C)
n.58-1G>C
c.241-1G>C (n.241-1G>C)
c.94-1G>C (n.94-1G>C)
c.61-1G>C (n.61-1G>C)
c.313-1G>C (n.313-1G>C)
 ClinVar dbSNP
6g.73641925C>TCA364718393SLC17A5c.292-1G>A (n.292-1G>A)
n.58-1G>A
c.241-1G>A (n.241-1G>A)
c.94-1G>A (n.94-1G>A)
c.61-1G>A (n.61-1G>A)
c.313-1G>A (n.313-1G>A)
6g.73641926T>ACA364718394SLC17A5c.292-2A>T (n.292-2A>T)
n.58-2A>T
c.241-2A>T (n.241-2A>T)
c.94-2A>T (n.94-2A>T)
c.61-2A>T (n.61-2A>T)
c.313-2A>T (n.313-2A>T)
6g.73641926T>CCA364718395SLC17A5c.292-2A>G (n.292-2A>G)
n.58-2A>G
c.241-2A>G (n.241-2A>G)
c.94-2A>G (n.94-2A>G)
c.61-2A>G (n.61-2A>G)
c.313-2A>G (n.313-2A>G)
6g.73641926T>GCA16041087SLC17A5c.292-2A>C (n.292-2A>C)
n.58-2A>C
c.241-2A>C (n.241-2A>C)
c.94-2A>C (n.94-2A>C)
c.61-2A>C (n.61-2A>C)
c.313-2A>C (n.313-2A>C)
 ClinVar dbSNP gnomAD v4
6g.73641926T=CA1638223288SLC17A5c.292-2A= (n.292-2A=)
n.58-2A=
c.241-2A= (n.241-2A=)
c.94-2A= (n.94-2A=)
c.61-2A= (n.61-2A=)
c.313-2A= (n.313-2A=)
6g.73641928C=CA1638223294SLC17A5c.292-4G= (n.292-4G=)
n.58-4G=
c.241-4G= (n.241-4G=)
c.94-4G= (n.94-4G=)
c.61-4G= (n.61-4G=)
c.313-4G= (n.313-4G=)
6g.73641928C>GCA140975792SLC17A5c.292-4G>C (n.292-4G>C)
n.58-4G>C
c.241-4G>C (n.241-4G>C)
c.94-4G>C (n.94-4G>C)
c.61-4G>C (n.61-4G>C)
c.313-4G>C (n.313-4G>C)
 ClinVar dbSNP gnomAD v4
6g.73641928C>TCA568118747SLC17A5c.292-4G>A (n.292-4G>A)
n.58-4G>A
c.241-4G>A (n.241-4G>A)
c.94-4G>A (n.94-4G>A)
c.61-4G>A (n.61-4G>A)
c.313-4G>A (n.313-4G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641930A>CCA2679404900SLC17A5c.292-6T>G (n.292-6T>G)
n.58-6T>G
c.241-6T>G (n.241-6T>G)
c.94-6T>G (n.94-6T>G)
c.61-6T>G (n.61-6T>G)
c.313-6T>G (n.313-6T>G)
 gnomAD v4
6g.73641933A=CA1638223298SLC17A5c.292-9T= (n.292-9T=)
n.58-9T=
c.241-9T= (n.241-9T=)
c.94-9T= (n.94-9T=)
c.61-9T= (n.61-9T=)
c.313-9T= (n.313-9T=)
6g.73641933A>GCA567687057SLC17A5c.292-9T>C (n.292-9T>C)
n.58-9T>C
c.241-9T>C (n.241-9T>C)
c.94-9T>C (n.94-9T>C)
c.61-9T>C (n.61-9T>C)
c.313-9T>C (n.313-9T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.73641934T>CCA3890559SLC17A5c.292-10A>G (n.292-10A>G)
n.58-10A>G
c.241-10A>G (n.241-10A>G)
c.94-10A>G (n.94-10A>G)
c.61-10A>G (n.61-10A>G)
c.313-10A>G (n.313-10A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641934T=CA1638223299SLC17A5c.292-10A= (n.292-10A=)
n.58-10A=
c.241-10A= (n.241-10A=)
c.94-10A= (n.94-10A=)
c.61-10A= (n.61-10A=)
c.313-10A= (n.313-10A=)
6g.73641935C>GCA2679404901SLC17A5c.292-11G>C (n.292-11G>C)
n.58-11G>C
c.241-11G>C (n.241-11G>C)
c.94-11G>C (n.94-11G>C)
c.61-11G>C (n.61-11G>C)
c.313-11G>C (n.313-11G>C)
 gnomAD v4
6g.73641936A>GCA2679404902SLC17A5c.292-12T>C (n.292-12T>C)
n.58-12T>C
c.241-12T>C (n.241-12T>C)
c.94-12T>C (n.94-12T>C)
c.61-12T>C (n.61-12T>C)
c.313-12T>C (n.313-12T>C)
 gnomAD v4
6g.73641937G>CCA2580075809SLC17A5c.292-13C>G (n.292-13C>G)
n.58-13C>G
c.241-13C>G (n.241-13C>G)
c.94-13C>G (n.94-13C>G)
c.61-13C>G (n.61-13C>G)
c.313-13C>G (n.313-13C>G)
 ClinVar
6g.73641939A>CCA2679404903SLC17A5c.292-15T>G (n.292-15T>G)
n.58-15T>G
c.241-15T>G (n.241-15T>G)
c.94-15T>G (n.94-15T>G)
c.61-15T>G (n.61-15T>G)
c.313-15T>G (n.313-15T>G)
 gnomAD v4
6g.73641939A>GCA2740091427SLC17A5c.292-15T>C (n.292-15T>C)
n.58-15T>C
c.241-15T>C (n.241-15T>C)
c.94-15T>C (n.94-15T>C)
c.61-15T>C (n.61-15T>C)
c.313-15T>C (n.313-15T>C)
 ClinVar
6g.73641942G>ACA2679404905SLC17A5c.292-18C>T (n.292-18C>T)
n.58-18C>T
c.241-18C>T (n.241-18C>T)
c.94-18C>T (n.94-18C>T)
c.61-18C>T (n.61-18C>T)
c.313-18C>T (n.313-18C>T)
 gnomAD v4
6g.73641942G>CCA2679404904SLC17A5c.292-18C>G (n.292-18C>G)
n.58-18C>G
c.241-18C>G (n.241-18C>G)
c.94-18C>G (n.94-18C>G)
c.61-18C>G (n.61-18C>G)
c.313-18C>G (n.313-18C>G)
 gnomAD v4
6g.73641942G=CA1638223301SLC17A5c.292-18C= (n.292-18C=)
n.58-18C=
c.241-18C= (n.241-18C=)
c.94-18C= (n.94-18C=)
c.61-18C= (n.61-18C=)
c.313-18C= (n.313-18C=)
6g.73641942G>TCA3890560SLC17A5c.292-18C>A (n.292-18C>A)
n.58-18C>A
c.241-18C>A (n.241-18C>A)
c.94-18C>A (n.94-18C>A)
c.61-18C>A (n.61-18C>A)
c.313-18C>A (n.313-18C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641943A>TCA2679404906SLC17A5c.292-19T>A (n.292-19T>A)
n.58-19T>A
c.241-19T>A (n.241-19T>A)
c.94-19T>A (n.94-19T>A)
c.61-19T>A (n.61-19T>A)
c.313-19T>A (n.313-19T>A)
 gnomAD v4

Number of alleles fetched