Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.73641695C>ACA364717818SLC17A5c.521G>T (p.Gly174Val)
n.287G>T
c.470G>T (p.Gly157Val)
c.323G>T (p.Gly108Val)
c.290G>T (p.Gly97Val)
c.542G>T (p.Gly181Val)
 gnomAD v4
6g.73641695C=CA1638222925SLC17A5c.521G= (p.Gly174=)
n.287G=
c.470G= (p.Gly157=)
c.323G= (p.Gly108=)
c.290G= (p.Gly97=)
c.542G= (p.Gly181=)
6g.73641695C>GCA364717820SLC17A5c.521G>C (p.Gly174Ala)
n.287G>C
c.470G>C (p.Gly157Ala)
c.323G>C (p.Gly108Ala)
c.290G>C (p.Gly97Ala)
c.542G>C (p.Gly181Ala)
 gnomAD v4
6g.73641695C>TCA3890523SLC17A5c.521G>A (p.Gly174Glu)
n.287G>A
c.470G>A (p.Gly157Glu)
c.323G>A (p.Gly108Glu)
c.290G>A (p.Gly97Glu)
c.542G>A (p.Gly181Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641696C>ACA364717827SLC17A5c.520G>T (p.Gly174Ter)
n.286G>T
c.469G>T (p.Gly157Ter)
c.322G>T (p.Gly108Ter)
c.289G>T (p.Gly97Ter)
c.541G>T (p.Gly181Ter)
6g.73641696C=CA1638222927SLC17A5c.520G= (p.Gly174=)
n.286G=
c.469G= (p.Gly157=)
c.322G= (p.Gly108=)
c.289G= (p.Gly97=)
c.541G= (p.Gly181=)
6g.73641696C>GCA364717828SLC17A5c.520G>C (p.Gly174Arg)
n.286G>C
c.469G>C (p.Gly157Arg)
c.322G>C (p.Gly108Arg)
c.289G>C (p.Gly97Arg)
c.541G>C (p.Gly181Arg)
6g.73641696C>TCA364717830SLC17A5c.520G>A (p.Gly174Arg)
n.286G>A
c.469G>A (p.Gly157Arg)
c.322G>A (p.Gly108Arg)
c.289G>A (p.Gly97Arg)
c.541G>A (p.Gly181Arg)
 dbSNP gnomAD v4
6g.73641697T>ACA450912071SLC17A5c.519A>T (p.Leu173=)
n.285A>T
c.468A>T (p.Leu156=)
c.321A>T (p.Leu107=)
c.288A>T (p.Leu96=)
c.540A>T (p.Leu180=)
6g.73641697T>CCA3890524SLC17A5c.519A>G (p.Leu173=)
n.285A>G
c.468A>G (p.Leu156=)
c.321A>G (p.Leu107=)
c.288A>G (p.Leu96=)
c.540A>G (p.Leu180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641697T>GCA3890525SLC17A5c.519A>C (p.Leu173=)
n.285A>C
c.468A>C (p.Leu156=)
c.321A>C (p.Leu107=)
c.288A>C (p.Leu96=)
c.540A>C (p.Leu180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641697T=CA1638222932SLC17A5c.519A= (p.Leu173=)
n.285A=
c.468A= (p.Leu156=)
c.321A= (p.Leu107=)
c.288A= (p.Leu96=)
c.540A= (p.Leu180=)
6g.73641698A=CA1638222936SLC17A5c.518T= (p.Leu173=)
n.284T=
c.467T= (p.Leu156=)
c.320T= (p.Leu107=)
c.287T= (p.Leu96=)
c.539T= (p.Leu180=)
6g.73641698A>CCA364717836SLC17A5c.518T>G (p.Leu173Arg)
n.284T>G
c.467T>G (p.Leu156Arg)
c.320T>G (p.Leu107Arg)
c.287T>G (p.Leu96Arg)
c.539T>G (p.Leu180Arg)
6g.73641698A>GCA364717834SLC17A5c.518T>C (p.Leu173Pro)
n.284T>C
c.467T>C (p.Leu156Pro)
c.320T>C (p.Leu107Pro)
c.287T>C (p.Leu96Pro)
c.539T>C (p.Leu180Pro)
 dbSNP
6g.73641698A>TCA364717832SLC17A5c.518T>A (p.Leu173Gln)
n.284T>A
c.467T>A (p.Leu156Gln)
c.320T>A (p.Leu107Gln)
c.287T>A (p.Leu96Gln)
c.539T>A (p.Leu180Gln)
6g.73641699G>ACA450912072SLC17A5c.517C>T (p.Leu173=)
n.283C>T
c.466C>T (p.Leu156=)
c.319C>T (p.Leu107=)
c.286C>T (p.Leu96=)
c.538C>T (p.Leu180=)
 ClinVar dbSNP gnomAD v4
6g.73641699G>CCA364717838SLC17A5c.517C>G (p.Leu173Val)
n.283C>G
c.466C>G (p.Leu156Val)
c.319C>G (p.Leu107Val)
c.286C>G (p.Leu96Val)
c.538C>G (p.Leu180Val)
6g.73641699G>TCA364717839SLC17A5c.517C>A (p.Leu173Ile)
n.283C>A
c.466C>A (p.Leu156Ile)
c.319C>A (p.Leu107Ile)
c.286C>A (p.Leu96Ile)
c.538C>A (p.Leu180Ile)
6g.73641700T>ACA450912073SLC17A5c.516A>T (p.Gly172=)
n.282A>T
c.465A>T (p.Gly155=)
c.318A>T (p.Gly106=)
c.285A>T (p.Gly95=)
c.537A>T (p.Gly179=)
6g.73641700T>CCA450912074SLC17A5c.516A>G (p.Gly172=)
n.282A>G
c.465A>G (p.Gly155=)
c.318A>G (p.Gly106=)
c.285A>G (p.Gly95=)
c.537A>G (p.Gly179=)
6g.73641700T>GCA450912075SLC17A5c.516A>C (p.Gly172=)
n.282A>C
c.465A>C (p.Gly155=)
c.318A>C (p.Gly106=)
c.285A>C (p.Gly95=)
c.537A>C (p.Gly179=)
6g.73641701C>ACA364717840SLC17A5c.515G>T (p.Gly172Val)
n.281G>T
c.464G>T (p.Gly155Val)
c.317G>T (p.Gly106Val)
c.284G>T (p.Gly95Val)
c.536G>T (p.Gly179Val)
6g.73641701C>GCA364717842SLC17A5c.515G>C (p.Gly172Ala)
n.281G>C
c.464G>C (p.Gly155Ala)
c.317G>C (p.Gly106Ala)
c.284G>C (p.Gly95Ala)
c.536G>C (p.Gly179Ala)
6g.73641701C>TCA364717844SLC17A5c.515G>A (p.Gly172Glu)
n.281G>A
c.464G>A (p.Gly155Glu)
c.317G>A (p.Gly106Glu)
c.284G>A (p.Gly95Glu)
c.536G>A (p.Gly179Glu)
6g.73641702C>ACA364717845SLC17A5c.514G>T (p.Gly172Ter)
n.280G>T
c.463G>T (p.Gly155Ter)
c.316G>T (p.Gly106Ter)
c.283G>T (p.Gly95Ter)
c.535G>T (p.Gly179Ter)
6g.73641702C>GCA364717847SLC17A5c.514G>C (p.Gly172Arg)
n.280G>C
c.463G>C (p.Gly155Arg)
c.316G>C (p.Gly106Arg)
c.283G>C (p.Gly95Arg)
c.535G>C (p.Gly179Arg)
6g.73641702C>TCA364717849SLC17A5c.514G>A (p.Gly172Arg)
n.280G>A
c.463G>A (p.Gly155Arg)
c.316G>A (p.Gly106Arg)
c.283G>A (p.Gly95Arg)
c.535G>A (p.Gly179Arg)
 gnomAD v4
6g.73641704_73641706delCA2573141129SLC17A5c.512_514del (p.Glu171del)
n.278_280del
c.461_463del (p.Glu154del)
c.314_316del (p.Glu105del)
c.281_283del (p.Glu94del)
c.533_535del (p.Glu178del)
 ClinVar dbSNP
6g.73641703T>ACA364717851SLC17A5c.513A>T (p.Glu171Asp)
n.279A>T
c.462A>T (p.Glu154Asp)
c.315A>T (p.Glu105Asp)
c.282A>T (p.Glu94Asp)
c.534A>T (p.Glu178Asp)
6g.73641703T>CCA450912076SLC17A5c.513A>G (p.Glu171=)
n.279A>G
c.462A>G (p.Glu154=)
c.315A>G (p.Glu105=)
c.282A>G (p.Glu94=)
c.534A>G (p.Glu178=)
6g.73641703T>GCA364717854SLC17A5c.513A>C (p.Glu171Asp)
n.279A>C
c.462A>C (p.Glu154Asp)
c.315A>C (p.Glu105Asp)
c.282A>C (p.Glu94Asp)
c.534A>C (p.Glu178Asp)
6g.73641704T>ACA364717856SLC17A5c.512A>T (p.Glu171Val)
n.278A>T
c.461A>T (p.Glu154Val)
c.314A>T (p.Glu105Val)
c.281A>T (p.Glu94Val)
c.533A>T (p.Glu178Val)
6g.73641704T>CCA364717857SLC17A5c.512A>G (p.Glu171Gly)
n.278A>G
c.461A>G (p.Glu154Gly)
c.314A>G (p.Glu105Gly)
c.281A>G (p.Glu94Gly)
c.533A>G (p.Glu178Gly)
6g.73641704T>GCA364717859SLC17A5c.512A>C (p.Glu171Ala)
n.278A>C
c.461A>C (p.Glu154Ala)
c.314A>C (p.Glu105Ala)
c.281A>C (p.Glu94Ala)
c.533A>C (p.Glu178Ala)
6g.73641705C>ACA364717865SLC17A5c.511G>T (p.Glu171Ter)
n.277G>T
c.460G>T (p.Glu154Ter)
c.313G>T (p.Glu105Ter)
c.280G>T (p.Glu94Ter)
c.532G>T (p.Glu178Ter)
6g.73641705C>GCA364717861SLC17A5c.511G>C (p.Glu171Gln)
n.277G>C
c.460G>C (p.Glu154Gln)
c.313G>C (p.Glu105Gln)
c.280G>C (p.Glu94Gln)
c.532G>C (p.Glu178Gln)
6g.73641705C>TCA364717863SLC17A5c.511G>A (p.Glu171Lys)
n.277G>A
c.460G>A (p.Glu154Lys)
c.313G>A (p.Glu105Lys)
c.280G>A (p.Glu94Lys)
c.532G>A (p.Glu178Lys)
 ClinVar
6g.[73641705C>T;73641707A>G]CA2580573348SLC17A5c.[509T>C;511G>A] (p.[Leu170Pro;Glu171Lys])
n.[275T>C;277G>A]
c.[458T>C;460G>A] (p.[Leu153Pro;Glu154Lys])
c.[311T>C;313G>A] (p.[Leu104Pro;Glu105Lys])
c.[278T>C;280G>A] (p.[Leu93Pro;Glu94Lys])
c.[530T>C;532G>A] (p.[Leu177Pro;Glu178Lys])
 ClinVar
6g.73641706T>ACA450912077SLC17A5c.510A>T (p.Leu170=)
n.276A>T
c.459A>T (p.Leu153=)
c.312A>T (p.Leu104=)
c.279A>T (p.Leu93=)
c.531A>T (p.Leu177=)
6g.73641706T>CCA450912078SLC17A5c.510A>G (p.Leu170=)
n.276A>G
c.459A>G (p.Leu153=)
c.312A>G (p.Leu104=)
c.279A>G (p.Leu93=)
c.531A>G (p.Leu177=)
6g.73641706T>GCA140975626SLC17A5c.510A>C (p.Leu170=)
n.276A>C
c.459A>C (p.Leu153=)
c.312A>C (p.Leu104=)
c.279A>C (p.Leu93=)
c.531A>C (p.Leu177=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641706T=CA1638222940SLC17A5c.510A= (p.Leu170=)
n.276A=
c.459A= (p.Leu153=)
c.312A= (p.Leu104=)
c.279A= (p.Leu93=)
c.531A= (p.Leu177=)
6g.73641707A>CCA364717866SLC17A5c.509T>G (p.Leu170Arg)
n.275T>G
c.458T>G (p.Leu153Arg)
c.311T>G (p.Leu104Arg)
c.278T>G (p.Leu93Arg)
c.530T>G (p.Leu177Arg)
6g.73641707A>GCA364717867SLC17A5c.509T>C (p.Leu170Pro)
n.275T>C
c.458T>C (p.Leu153Pro)
c.311T>C (p.Leu104Pro)
c.278T>C (p.Leu93Pro)
c.530T>C (p.Leu177Pro)
 ClinVar
6g.73641707A>TCA364717869SLC17A5c.509T>A (p.Leu170Gln)
n.275T>A
c.458T>A (p.Leu153Gln)
c.311T>A (p.Leu104Gln)
c.278T>A (p.Leu93Gln)
c.530T>A (p.Leu177Gln)
6g.73641708G>ACA450912079SLC17A5c.508C>T (p.Leu170=)
n.274C>T
c.457C>T (p.Leu153=)
c.310C>T (p.Leu104=)
c.277C>T (p.Leu93=)
c.529C>T (p.Leu177=)
 dbSNP
6g.73641708G>CCA364717870SLC17A5c.508C>G (p.Leu170Val)
n.274C>G
c.457C>G (p.Leu153Val)
c.310C>G (p.Leu104Val)
c.277C>G (p.Leu93Val)
c.529C>G (p.Leu177Val)
6g.73641708G=CA1638222945SLC17A5c.508C= (p.Leu170=)
n.274C=
c.457C= (p.Leu153=)
c.310C= (p.Leu104=)
c.277C= (p.Leu93=)
c.529C= (p.Leu177=)
6g.73641708G>TCA364717871SLC17A5c.508C>A (p.Leu170Ile)
n.274C>A
c.457C>A (p.Leu153Ile)
c.310C>A (p.Leu104Ile)
c.277C>A (p.Leu93Ile)
c.529C>A (p.Leu177Ile)
6g.73641708_73641709delinsGTCA1638222944SLC17A5c.507_508delinsAC (p.Ala169=)
n.273_274delinsAC
c.456_457delinsAC (p.Ala152=)
c.309_310delinsAC (p.Ala103=)
c.276_277delinsAC (p.Ala92=)
c.528_529delinsAC (p.Ala176=)
6g.73641709delCA263927SLC17A5c.507del (p.Leu170Ter)
n.273del
c.456del (p.Leu153Ter)
c.309del (p.Leu104Ter)
c.276del (p.Leu93Ter)
c.528del (p.Leu177Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641709T>ACA450912080SLC17A5c.507A>T (p.Ala169=)
n.273A>T
c.456A>T (p.Ala152=)
c.309A>T (p.Ala103=)
c.276A>T (p.Ala92=)
c.528A>T (p.Ala176=)
 ClinVar
6g.73641709T>CCA3890527SLC17A5c.507A>G (p.Ala169=)
n.273A>G
c.456A>G (p.Ala152=)
c.309A>G (p.Ala103=)
c.276A>G (p.Ala92=)
c.528A>G (p.Ala176=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641709T>GCA3890526SLC17A5c.507A>C (p.Ala169=)
n.273A>C
c.456A>C (p.Ala152=)
c.309A>C (p.Ala103=)
c.276A>C (p.Ala92=)
c.528A>C (p.Ala176=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641709T=CA1638222953SLC17A5c.507A= (p.Ala169=)
n.273A=
c.456A= (p.Ala152=)
c.309A= (p.Ala103=)
c.276A= (p.Ala92=)
c.528A= (p.Ala176=)
6g.73641710G>ACA364717876SLC17A5c.506C>T (p.Ala169Val)
n.272C>T
c.455C>T (p.Ala152Val)
c.308C>T (p.Ala103Val)
c.275C>T (p.Ala92Val)
c.527C>T (p.Ala176Val)
 gnomAD v4
6g.73641710G>CCA364717877SLC17A5c.506C>G (p.Ala169Gly)
n.272C>G
c.455C>G (p.Ala152Gly)
c.308C>G (p.Ala103Gly)
c.275C>G (p.Ala92Gly)
c.527C>G (p.Ala176Gly)
6g.73641710G>TCA364717879SLC17A5c.506C>A (p.Ala169Glu)
n.272C>A
c.455C>A (p.Ala152Glu)
c.308C>A (p.Ala103Glu)
c.275C>A (p.Ala92Glu)
c.527C>A (p.Ala176Glu)
6g.73641711C>ACA364717882SLC17A5c.505G>T (p.Ala169Ser)
n.271G>T
c.454G>T (p.Ala152Ser)
c.307G>T (p.Ala103Ser)
c.274G>T (p.Ala92Ser)
c.526G>T (p.Ala176Ser)
 gnomAD v4
6g.73641711C=CA1638222958SLC17A5c.505G= (p.Ala169=)
n.271G=
c.454G= (p.Ala152=)
c.307G= (p.Ala103=)
c.274G= (p.Ala92=)
c.526G= (p.Ala176=)
6g.73641711C>GCA364717883SLC17A5c.505G>C (p.Ala169Pro)
n.271G>C
c.454G>C (p.Ala152Pro)
c.307G>C (p.Ala103Pro)
c.274G>C (p.Ala92Pro)
c.526G>C (p.Ala176Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641711C>TCA364717880SLC17A5c.505G>A (p.Ala169Thr)
n.271G>A
c.454G>A (p.Ala152Thr)
c.307G>A (p.Ala103Thr)
c.274G>A (p.Ala92Thr)
c.526G>A (p.Ala176Thr)
6g.73641712T>ACA364717885SLC17A5c.504A>T (p.Arg168Ser)
n.270A>T
c.453A>T (p.Arg151Ser)
c.306A>T (p.Arg102Ser)
c.273A>T (p.Arg91Ser)
c.525A>T (p.Arg175Ser)
6g.73641712T>CCA450912081SLC17A5c.504A>G (p.Arg168=)
n.270A>G
c.453A>G (p.Arg151=)
c.306A>G (p.Arg102=)
c.273A>G (p.Arg91=)
c.525A>G (p.Arg175=)
6g.73641712T>GCA364717887SLC17A5c.504A>C (p.Arg168Ser)
n.270A>C
c.453A>C (p.Arg151Ser)
c.306A>C (p.Arg102Ser)
c.273A>C (p.Arg91Ser)
c.525A>C (p.Arg175Ser)
6g.73641713C>ACA364717888SLC17A5c.503G>T (p.Arg168Ile)
n.269G>T
c.452G>T (p.Arg151Ile)
c.305G>T (p.Arg102Ile)
c.272G>T (p.Arg91Ile)
c.524G>T (p.Arg175Ile)
6g.73641713C>GCA364717890SLC17A5c.503G>C (p.Arg168Thr)
n.269G>C
c.452G>C (p.Arg151Thr)
c.305G>C (p.Arg102Thr)
c.272G>C (p.Arg91Thr)
c.524G>C (p.Arg175Thr)
6g.73641713C>TCA364717891SLC17A5c.503G>A (p.Arg168Lys)
n.269G>A
c.452G>A (p.Arg151Lys)
c.305G>A (p.Arg102Lys)
c.272G>A (p.Arg91Lys)
c.524G>A (p.Arg175Lys)
6g.73641714T>ACA364717892SLC17A5c.502A>T (p.Arg168Ter)
n.268A>T
c.451A>T (p.Arg151Ter)
c.304A>T (p.Arg102Ter)
c.271A>T (p.Arg91Ter)
c.523A>T (p.Arg175Ter)
6g.73641714T>CCA364717893SLC17A5c.502A>G (p.Arg168Gly)
n.268A>G
c.451A>G (p.Arg151Gly)
c.304A>G (p.Arg102Gly)
c.271A>G (p.Arg91Gly)
c.523A>G (p.Arg175Gly)
 gnomAD v4
6g.73641714T>GCA450912082SLC17A5c.502A>C (p.Arg168=)
n.268A>C
c.451A>C (p.Arg151=)
c.304A>C (p.Arg102=)
c.271A>C (p.Arg91=)
c.523A>C (p.Arg175=)
6g.73641715G>ACA450912083SLC17A5c.501C>T (p.Leu167=)
n.267C>T
c.450C>T (p.Leu150=)
c.303C>T (p.Leu101=)
c.270C>T (p.Leu90=)
c.522C>T (p.Leu174=)
6g.73641715G>CCA450912084SLC17A5c.501C>G (p.Leu167=)
n.267C>G
c.450C>G (p.Leu150=)
c.303C>G (p.Leu101=)
c.270C>G (p.Leu90=)
c.522C>G (p.Leu174=)
6g.73641715G>TCA450912085SLC17A5c.501C>A (p.Leu167=)
n.267C>A
c.450C>A (p.Leu150=)
c.303C>A (p.Leu101=)
c.270C>A (p.Leu90=)
c.522C>A (p.Leu174=)
6g.73641716A=CA1638222966SLC17A5c.500T= (p.Leu167=)
n.266T=
c.449T= (p.Leu150=)
c.302T= (p.Leu101=)
c.269T= (p.Leu90=)
c.521T= (p.Leu174=)
6g.73641716A>CCA364717894SLC17A5c.500T>G (p.Leu167Arg)
n.266T>G
c.449T>G (p.Leu150Arg)
c.302T>G (p.Leu101Arg)
c.269T>G (p.Leu90Arg)
c.521T>G (p.Leu174Arg)
6g.73641716A>GCA267594SLC17A5c.500T>C (p.Leu167Pro)
n.266T>C
c.449T>C (p.Leu150Pro)
c.302T>C (p.Leu101Pro)
c.269T>C (p.Leu90Pro)
c.521T>C (p.Leu174Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641716A>TCA364717895SLC17A5c.500T>A (p.Leu167His)
n.266T>A
c.449T>A (p.Leu150His)
c.302T>A (p.Leu101His)
c.269T>A (p.Leu90His)
c.521T>A (p.Leu174His)
6g.73641717G>ACA364717896SLC17A5c.499C>T (p.Leu167Phe)
n.265C>T
c.448C>T (p.Leu150Phe)
c.301C>T (p.Leu101Phe)
c.268C>T (p.Leu90Phe)
c.520C>T (p.Leu174Phe)
 gnomAD v4 COSMIC
6g.73641717G>CCA364717899SLC17A5c.499C>G (p.Leu167Val)
n.265C>G
c.448C>G (p.Leu150Val)
c.301C>G (p.Leu101Val)
c.268C>G (p.Leu90Val)
c.520C>G (p.Leu174Val)
6g.73641717G>TCA364717901SLC17A5c.499C>A (p.Leu167Ile)
n.265C>A
c.448C>A (p.Leu150Ile)
c.301C>A (p.Leu101Ile)
c.268C>A (p.Leu90Ile)
c.520C>A (p.Leu174Ile)
6g.73641718T>ACA450912086SLC17A5c.498A>T (p.Val166=)
n.264A>T
c.447A>T (p.Val149=)
c.300A>T (p.Val100=)
c.267A>T (p.Val89=)
c.519A>T (p.Val173=)
6g.73641718T>CCA450912087SLC17A5c.498A>G (p.Val166=)
n.264A>G
c.447A>G (p.Val149=)
c.300A>G (p.Val100=)
c.267A>G (p.Val89=)
c.519A>G (p.Val173=)
 dbSNP gnomAD v4
6g.73641718T>GCA450912088SLC17A5c.498A>C (p.Val166=)
n.264A>C
c.447A>C (p.Val149=)
c.300A>C (p.Val100=)
c.267A>C (p.Val89=)
c.519A>C (p.Val173=)
 gnomAD v4
6g.73641718T=CA1638222974SLC17A5c.498A= (p.Val166=)
n.264A=
c.447A= (p.Val149=)
c.300A= (p.Val100=)
c.267A= (p.Val89=)
c.519A= (p.Val173=)
6g.73641719A=CA1638222976SLC17A5c.497T= (p.Val166=)
n.263T=
c.446T= (p.Val149=)
c.299T= (p.Val100=)
c.266T= (p.Val89=)
c.518T= (p.Val173=)
6g.73641719A>CCA364717907SLC17A5c.497T>G (p.Val166Gly)
n.263T>G
c.446T>G (p.Val149Gly)
c.299T>G (p.Val100Gly)
c.266T>G (p.Val89Gly)
c.518T>G (p.Val173Gly)
6g.73641719A>GCA364717905SLC17A5c.497T>C (p.Val166Ala)
n.263T>C
c.446T>C (p.Val149Ala)
c.299T>C (p.Val100Ala)
c.266T>C (p.Val89Ala)
c.518T>C (p.Val173Ala)
 dbSNP gnomAD v4
6g.73641719A>TCA364717903SLC17A5c.497T>A (p.Val166Glu)
n.263T>A
c.446T>A (p.Val149Glu)
c.299T>A (p.Val100Glu)
c.266T>A (p.Val89Glu)
c.518T>A (p.Val173Glu)
6g.73641720C>ACA364717910SLC17A5c.496G>T (p.Val166Leu)
n.262G>T
c.445G>T (p.Val149Leu)
c.298G>T (p.Val100Leu)
c.265G>T (p.Val89Leu)
c.517G>T (p.Val173Leu)
6g.73641720C>GCA364717912SLC17A5c.496G>C (p.Val166Leu)
n.262G>C
c.445G>C (p.Val149Leu)
c.298G>C (p.Val100Leu)
c.265G>C (p.Val89Leu)
c.517G>C (p.Val173Leu)
6g.73641720C>TCA364717914SLC17A5c.496G>A (p.Val166Ile)
n.262G>A
c.445G>A (p.Val149Ile)
c.298G>A (p.Val100Ile)
c.265G>A (p.Val89Ile)
c.517G>A (p.Val173Ile)
6g.73641721A>CCA364717916SLC17A5c.495T>G (p.Ile165Met)
n.261T>G
c.444T>G (p.Ile148Met)
c.297T>G (p.Ile99Met)
c.264T>G (p.Ile88Met)
c.516T>G (p.Ile172Met)
 gnomAD v4
6g.73641721A>GCA450912089SLC17A5c.495T>C (p.Ile165=)
n.261T>C
c.444T>C (p.Ile148=)
c.297T>C (p.Ile99=)
c.264T>C (p.Ile88=)
c.516T>C (p.Ile172=)
6g.73641721A>TCA450912090SLC17A5c.495T>A (p.Ile165=)
n.261T>A
c.444T>A (p.Ile148=)
c.297T>A (p.Ile99=)
c.264T>A (p.Ile88=)
c.516T>A (p.Ile172=)
6g.73641722A=CA1638222980SLC17A5c.494T= (p.Ile165=)
n.260T=
c.443T= (p.Ile148=)
c.296T= (p.Ile99=)
c.263T= (p.Ile88=)
c.515T= (p.Ile172=)
6g.73641722A>CCA364717918SLC17A5c.494T>G (p.Ile165Ser)
n.260T>G
c.443T>G (p.Ile148Ser)
c.296T>G (p.Ile99Ser)
c.263T>G (p.Ile88Ser)
c.515T>G (p.Ile172Ser)
6g.73641722A>GCA364717919SLC17A5c.494T>C (p.Ile165Thr)
n.260T>C
c.443T>C (p.Ile148Thr)
c.296T>C (p.Ile99Thr)
c.263T>C (p.Ile88Thr)
c.515T>C (p.Ile172Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641722A>TCA3890528SLC17A5c.494T>A (p.Ile165Asn)
n.260T>A
c.443T>A (p.Ile148Asn)
c.296T>A (p.Ile99Asn)
c.263T>A (p.Ile88Asn)
c.515T>A (p.Ile172Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641723T>ACA364717921SLC17A5c.493A>T (p.Ile165Phe)
n.259A>T
c.442A>T (p.Ile148Phe)
c.295A>T (p.Ile99Phe)
c.262A>T (p.Ile88Phe)
c.514A>T (p.Ile172Phe)
6g.73641723T>CCA364717923SLC17A5c.493A>G (p.Ile165Val)
n.259A>G
c.442A>G (p.Ile148Val)
c.295A>G (p.Ile99Val)
c.262A>G (p.Ile88Val)
c.514A>G (p.Ile172Val)
6g.73641723T>GCA364717925SLC17A5c.493A>C (p.Ile165Leu)
n.259A>C
c.442A>C (p.Ile148Leu)
c.295A>C (p.Ile99Leu)
c.262A>C (p.Ile88Leu)
c.514A>C (p.Ile172Leu)
6g.73641724G>ACA450912091SLC17A5c.492C>T (p.Leu164=)
n.258C>T
c.441C>T (p.Leu147=)
c.294C>T (p.Leu98=)
c.261C>T (p.Leu87=)
c.513C>T (p.Leu171=)
 ClinVar dbSNP
6g.73641724G>CCA450912092SLC17A5c.492C>G (p.Leu164=)
n.258C>G
c.441C>G (p.Leu147=)
c.294C>G (p.Leu98=)
c.261C>G (p.Leu87=)
c.513C>G (p.Leu171=)
6g.73641724G>TCA450912093SLC17A5c.492C>A (p.Leu164=)
n.258C>A
c.441C>A (p.Leu147=)
c.294C>A (p.Leu98=)
c.261C>A (p.Leu87=)
c.513C>A (p.Leu171=)
6g.73641725A>CCA364717927SLC17A5c.491T>G (p.Leu164Arg)
n.257T>G
c.440T>G (p.Leu147Arg)
c.293T>G (p.Leu98Arg)
c.260T>G (p.Leu87Arg)
c.512T>G (p.Leu171Arg)
6g.73641725A>GCA364717928SLC17A5c.491T>C (p.Leu164Pro)
n.257T>C
c.440T>C (p.Leu147Pro)
c.293T>C (p.Leu98Pro)
c.260T>C (p.Leu87Pro)
c.512T>C (p.Leu171Pro)
6g.73641725A>TCA364717930SLC17A5c.491T>A (p.Leu164His)
n.257T>A
c.440T>A (p.Leu147His)
c.293T>A (p.Leu98His)
c.260T>A (p.Leu87His)
c.512T>A (p.Leu171His)
6g.73641726G>ACA364717934SLC17A5c.490C>T (p.Leu164Phe)
n.256C>T
c.439C>T (p.Leu147Phe)
c.292C>T (p.Leu98Phe)
c.259C>T (p.Leu87Phe)
c.511C>T (p.Leu171Phe)
 gnomAD v4
6g.73641726G>CCA364717936SLC17A5c.490C>G (p.Leu164Val)
n.256C>G
c.439C>G (p.Leu147Val)
c.292C>G (p.Leu98Val)
c.259C>G (p.Leu87Val)
c.511C>G (p.Leu171Val)
 gnomAD v4
6g.73641726G>TCA364717932SLC17A5c.490C>A (p.Leu164Ile)
n.256C>A
c.439C>A (p.Leu147Ile)
c.292C>A (p.Leu98Ile)
c.259C>A (p.Leu87Ile)
c.511C>A (p.Leu171Ile)
6g.73641727T>ACA450912095SLC17A5c.489A>T (p.Pro163=)
n.255A>T
c.438A>T (p.Pro146=)
c.291A>T (p.Pro97=)
c.258A>T (p.Pro86=)
c.510A>T (p.Pro170=)
6g.73641727T>CCA450912094SLC17A5c.489A>G (p.Pro163=)
n.255A>G
c.438A>G (p.Pro146=)
c.291A>G (p.Pro97=)
c.258A>G (p.Pro86=)
c.510A>G (p.Pro170=)
 ClinVar dbSNP
6g.73641727T>GCA450912096SLC17A5c.489A>C (p.Pro163=)
n.255A>C
c.438A>C (p.Pro146=)
c.291A>C (p.Pro97=)
c.258A>C (p.Pro86=)
c.510A>C (p.Pro170=)
6g.73641727T=CA1638222986SLC17A5c.489A= (p.Pro163=)
n.255A=
c.438A= (p.Pro146=)
c.291A= (p.Pro97=)
c.258A= (p.Pro86=)
c.510A= (p.Pro170=)
6g.73641728G>ACA364717939SLC17A5c.488C>T (p.Pro163Leu)
n.254C>T
c.437C>T (p.Pro146Leu)
c.290C>T (p.Pro97Leu)
c.257C>T (p.Pro86Leu)
c.509C>T (p.Pro170Leu)
6g.73641728G>CCA364717938SLC17A5c.488C>G (p.Pro163Arg)
n.254C>G
c.437C>G (p.Pro146Arg)
c.290C>G (p.Pro97Arg)
c.257C>G (p.Pro86Arg)
c.509C>G (p.Pro170Arg)
6g.73641728G>TCA364717941SLC17A5c.488C>A (p.Pro163Gln)
n.254C>A
c.437C>A (p.Pro146Gln)
c.290C>A (p.Pro97Gln)
c.257C>A (p.Pro86Gln)
c.509C>A (p.Pro170Gln)
6g.73641729G>ACA364717943SLC17A5c.487C>T (p.Pro163Ser)
n.253C>T
c.436C>T (p.Pro146Ser)
c.289C>T (p.Pro97Ser)
c.256C>T (p.Pro86Ser)
c.508C>T (p.Pro170Ser)
 COSMIC
6g.73641729G>CCA364717945SLC17A5c.487C>G (p.Pro163Ala)
n.253C>G
c.436C>G (p.Pro146Ala)
c.289C>G (p.Pro97Ala)
c.256C>G (p.Pro86Ala)
c.508C>G (p.Pro170Ala)
6g.73641729G>TCA364717947SLC17A5c.487C>A (p.Pro163Thr)
n.253C>A
c.436C>A (p.Pro146Thr)
c.289C>A (p.Pro97Thr)
c.256C>A (p.Pro86Thr)
c.508C>A (p.Pro170Thr)
6g.73641730T>ACA450912097SLC17A5c.486A>T (p.Gly162=)
n.252A>T
c.435A>T (p.Gly145=)
c.288A>T (p.Gly96=)
c.255A>T (p.Gly85=)
c.507A>T (p.Gly169=)
6g.73641730T>CCA450912098SLC17A5c.486A>G (p.Gly162=)
n.252A>G
c.435A>G (p.Gly145=)
c.288A>G (p.Gly96=)
c.255A>G (p.Gly85=)
c.507A>G (p.Gly169=)
6g.73641730T>GCA450912099SLC17A5c.486A>C (p.Gly162=)
n.252A>C
c.435A>C (p.Gly145=)
c.288A>C (p.Gly96=)
c.255A>C (p.Gly85=)
c.507A>C (p.Gly169=)
6g.73641730_73641731insGTATTTTGCTCTCTTGCA2580075791SLC17A5c.485_486insCAAGAGAGCAAAATAC (p.Pro163LysfsTer?)
n.251_252insCAAGAGAGCAAAATAC
c.434_435insCAAGAGAGCAAAATAC (p.Pro146LysfsTer?)
c.287_288insCAAGAGAGCAAAATAC (p.Pro97LysfsTer?)
c.254_255insCAAGAGAGCAAAATAC (p.Pro86LysfsTer?)
c.506_507insCAAGAGAGCAAAATAC (p.Pro170LysfsTer?)
 ClinVar
6g.73641731C>ACA364717949SLC17A5c.485G>T (p.Gly162Val)
n.251G>T
c.434G>T (p.Gly145Val)
c.287G>T (p.Gly96Val)
c.254G>T (p.Gly85Val)
c.506G>T (p.Gly169Val)
6g.73641731C>GCA364717951SLC17A5c.485G>C (p.Gly162Ala)
n.251G>C
c.434G>C (p.Gly145Ala)
c.287G>C (p.Gly96Ala)
c.254G>C (p.Gly85Ala)
c.506G>C (p.Gly169Ala)
6g.73641731C>TCA364717953SLC17A5c.485G>A (p.Gly162Glu)
n.251G>A
c.434G>A (p.Gly145Glu)
c.287G>A (p.Gly96Glu)
c.254G>A (p.Gly85Glu)
c.506G>A (p.Gly169Glu)
6g.73641732C>ACA364717955SLC17A5c.484G>T (p.Gly162Ter)
n.250G>T
c.433G>T (p.Gly145Ter)
c.286G>T (p.Gly96Ter)
c.253G>T (p.Gly85Ter)
c.505G>T (p.Gly169Ter)
6g.73641732C>GCA364717957SLC17A5c.484G>C (p.Gly162Arg)
n.250G>C
c.433G>C (p.Gly145Arg)
c.286G>C (p.Gly96Arg)
c.253G>C (p.Gly85Arg)
c.505G>C (p.Gly169Arg)
6g.73641732C>TCA364717959SLC17A5c.484G>A (p.Gly162Arg)
n.250G>A
c.433G>A (p.Gly145Arg)
c.286G>A (p.Gly96Arg)
c.253G>A (p.Gly85Arg)
c.505G>A (p.Gly169Arg)
6g.73641733A>CCA450912100SLC17A5c.483T>G (p.Val161=)
n.249T>G
c.432T>G (p.Val144=)
c.285T>G (p.Val95=)
c.252T>G (p.Val84=)
c.504T>G (p.Val168=)
 gnomAD v4
6g.73641733A>GCA450912101SLC17A5c.483T>C (p.Val161=)
n.249T>C
c.432T>C (p.Val144=)
c.285T>C (p.Val95=)
c.252T>C (p.Val84=)
c.504T>C (p.Val168=)
6g.73641733A>TCA450912102SLC17A5c.483T>A (p.Val161=)
n.249T>A
c.432T>A (p.Val144=)
c.285T>A (p.Val95=)
c.252T>A (p.Val84=)
c.504T>A (p.Val168=)
6g.73641734A=CA1638222989SLC17A5c.482T= (p.Val161=)
n.248T=
c.431T= (p.Val144=)
c.284T= (p.Val95=)
c.251T= (p.Val84=)
c.503T= (p.Val168=)
6g.73641734A>CCA364717961SLC17A5c.482T>G (p.Val161Gly)
n.248T>G
c.431T>G (p.Val144Gly)
c.284T>G (p.Val95Gly)
c.251T>G (p.Val84Gly)
c.503T>G (p.Val168Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641734A>GCA364717962SLC17A5c.482T>C (p.Val161Ala)
n.248T>C
c.431T>C (p.Val144Ala)
c.284T>C (p.Val95Ala)
c.251T>C (p.Val84Ala)
c.503T>C (p.Val168Ala)
6g.73641734A>TCA364717964SLC17A5c.482T>A (p.Val161Asp)
n.248T>A
c.431T>A (p.Val144Asp)
c.284T>A (p.Val95Asp)
c.251T>A (p.Val84Asp)
c.503T>A (p.Val168Asp)
6g.73641735C>ACA364717969SLC17A5c.481G>T (p.Val161Phe)
n.247G>T
c.430G>T (p.Val144Phe)
c.283G>T (p.Val95Phe)
c.250G>T (p.Val84Phe)
c.502G>T (p.Val168Phe)
6g.73641735C=CA1638222993SLC17A5c.481G= (p.Val161=)
n.247G=
c.430G= (p.Val144=)
c.283G= (p.Val95=)
c.250G= (p.Val84=)
c.502G= (p.Val168=)
6g.73641735C>GCA364717967SLC17A5c.481G>C (p.Val161Leu)
n.247G>C
c.430G>C (p.Val144Leu)
c.283G>C (p.Val95Leu)
c.250G>C (p.Val84Leu)
c.502G>C (p.Val168Leu)
 gnomAD v4
6g.73641735C>TCA3890529SLC17A5c.481G>A (p.Val161Ile)
n.247G>A
c.430G>A (p.Val144Ile)
c.283G>A (p.Val95Ile)
c.250G>A (p.Val84Ile)
c.502G>A (p.Val168Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641736T>ACA450912103SLC17A5c.480A>T (p.Gly160=)
n.246A>T
c.429A>T (p.Gly143=)
c.282A>T (p.Gly94=)
c.249A>T (p.Gly83=)
c.501A>T (p.Gly167=)
6g.73641736T>CCA450912104SLC17A5c.480A>G (p.Gly160=)
n.246A>G
c.429A>G (p.Gly143=)
c.282A>G (p.Gly94=)
c.249A>G (p.Gly83=)
c.501A>G (p.Gly167=)
 gnomAD v4
6g.73641736T>GCA450912105SLC17A5c.480A>C (p.Gly160=)
n.246A>C
c.429A>C (p.Gly143=)
c.282A>C (p.Gly94=)
c.249A>C (p.Gly83=)
c.501A>C (p.Gly167=)
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

Number of alleles fetched