Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.73610531_73610532delinsTGCA1638229782SLC17A5c.1127_1128delinsCA (p.Ala376=)
c.1076_1077delinsCA (p.Ala359=)
c.929_930delinsCA (p.Ala310=)
c.1111+4783_1111+4784delinsCA (n.1111+4783_1111+4784delinsCA)
c.896_897delinsCA (p.Ala299=)
c.1148_1149delinsCA (p.Ala383=)
c.1040_1041delinsCA (p.Ala347=)
c.968_969delinsCA (p.Ala323=)
c.1124_1125delinsCA (p.Ala375=)
c.809_810delinsCA (p.Ala270=)
6g.73610532delCA16041078SLC17A5c.1127del (p.Ala376GlufsTer5)
c.1076del (p.Ala359GlufsTer5)
c.929del (p.Ala310GlufsTer5)
c.1111+4783del (n.1111+4783del)
c.896del (p.Ala299GlufsTer5)
c.1148del (p.Ala383GlufsTer5)
c.1040del (p.Ala347GlufsTer5)
c.968del (p.Ala323GlufsTer5)
c.1124del (p.Ala375GlufsTer5)
c.809del (p.Ala270GlufsTer5)
 ClinVar dbSNP
6g.73610532G>ACA364721173SLC17A5c.1127C>T (p.Ala376Val)
c.1076C>T (p.Ala359Val)
c.929C>T (p.Ala310Val)
c.1111+4783C>T (n.1111+4783C>T)
c.896C>T (p.Ala299Val)
c.1148C>T (p.Ala383Val)
c.1040C>T (p.Ala347Val)
c.968C>T (p.Ala323Val)
c.1124C>T (p.Ala375Val)
c.809C>T (p.Ala270Val)
6g.73610532G>CCA364721174SLC17A5c.1127C>G (p.Ala376Gly)
c.1076C>G (p.Ala359Gly)
c.929C>G (p.Ala310Gly)
c.1111+4783C>G (n.1111+4783C>G)
c.896C>G (p.Ala299Gly)
c.1148C>G (p.Ala383Gly)
c.1040C>G (p.Ala347Gly)
c.968C>G (p.Ala323Gly)
c.1124C>G (p.Ala375Gly)
c.809C>G (p.Ala270Gly)
6g.73610532G>TCA364721175SLC17A5c.1127C>A (p.Ala376Glu)
c.1076C>A (p.Ala359Glu)
c.929C>A (p.Ala310Glu)
c.1111+4783C>A (n.1111+4783C>A)
c.896C>A (p.Ala299Glu)
c.1148C>A (p.Ala383Glu)
c.1040C>A (p.Ala347Glu)
c.968C>A (p.Ala323Glu)
c.1124C>A (p.Ala375Glu)
c.809C>A (p.Ala270Glu)
6g.73610533C>ACA364721176SLC17A5c.1126G>T (p.Ala376Ser)
c.1075G>T (p.Ala359Ser)
c.928G>T (p.Ala310Ser)
c.1111+4782G>T (n.1111+4782G>T)
c.895G>T (p.Ala299Ser)
c.1147G>T (p.Ala383Ser)
c.1039G>T (p.Ala347Ser)
c.967G>T (p.Ala323Ser)
c.1123G>T (p.Ala375Ser)
c.808G>T (p.Ala270Ser)
6g.73610533C>GCA364721177SLC17A5c.1126G>C (p.Ala376Pro)
c.1075G>C (p.Ala359Pro)
c.928G>C (p.Ala310Pro)
c.1111+4782G>C (n.1111+4782G>C)
c.895G>C (p.Ala299Pro)
c.1147G>C (p.Ala383Pro)
c.1039G>C (p.Ala347Pro)
c.967G>C (p.Ala323Pro)
c.1123G>C (p.Ala375Pro)
c.808G>C (p.Ala270Pro)
6g.73610533C>TCA364721178SLC17A5c.1126G>A (p.Ala376Thr)
c.1075G>A (p.Ala359Thr)
c.928G>A (p.Ala310Thr)
c.1111+4782G>A (n.1111+4782G>A)
c.895G>A (p.Ala299Thr)
c.1147G>A (p.Ala383Thr)
c.1039G>A (p.Ala347Thr)
c.967G>A (p.Ala323Thr)
c.1123G>A (p.Ala375Thr)
c.808G>A (p.Ala270Thr)
6g.73610534A>CCA450914834SLC17A5c.1125T>G (p.Pro375=)
c.1074T>G (p.Pro358=)
c.927T>G (p.Pro309=)
c.1111+4781T>G (n.1111+4781T>G)
c.894T>G (p.Pro298=)
c.1146T>G (p.Pro382=)
c.1038T>G (p.Pro346=)
c.966T>G (p.Pro322=)
c.1122T>G (p.Pro374=)
c.807T>G (p.Pro269=)
6g.73610534A>GCA450914835SLC17A5c.1125T>C (p.Pro375=)
c.1074T>C (p.Pro358=)
c.927T>C (p.Pro309=)
c.1111+4781T>C (n.1111+4781T>C)
c.894T>C (p.Pro298=)
c.1146T>C (p.Pro382=)
c.1038T>C (p.Pro346=)
c.966T>C (p.Pro322=)
c.1122T>C (p.Pro374=)
c.807T>C (p.Pro269=)
6g.73610534A>TCA450914833SLC17A5c.1125T>A (p.Pro375=)
c.1074T>A (p.Pro358=)
c.927T>A (p.Pro309=)
c.1111+4781T>A (n.1111+4781T>A)
c.894T>A (p.Pro298=)
c.1146T>A (p.Pro382=)
c.1038T>A (p.Pro346=)
c.966T>A (p.Pro322=)
c.1122T>A (p.Pro374=)
c.807T>A (p.Pro269=)
6g.73610535G>ACA364721181SLC17A5c.1124C>T (p.Pro375Leu)
c.1073C>T (p.Pro358Leu)
c.926C>T (p.Pro309Leu)
c.1111+4780C>T (n.1111+4780C>T)
c.893C>T (p.Pro298Leu)
c.1145C>T (p.Pro382Leu)
c.1037C>T (p.Pro346Leu)
c.965C>T (p.Pro322Leu)
c.1121C>T (p.Pro374Leu)
c.806C>T (p.Pro269Leu)
6g.73610535G>CCA364721180SLC17A5c.1124C>G (p.Pro375Arg)
c.1073C>G (p.Pro358Arg)
c.926C>G (p.Pro309Arg)
c.1111+4780C>G (n.1111+4780C>G)
c.893C>G (p.Pro298Arg)
c.1145C>G (p.Pro382Arg)
c.1037C>G (p.Pro346Arg)
c.965C>G (p.Pro322Arg)
c.1121C>G (p.Pro374Arg)
c.806C>G (p.Pro269Arg)
6g.73610535G>TCA364721179SLC17A5c.1124C>A (p.Pro375His)
c.1073C>A (p.Pro358His)
c.926C>A (p.Pro309His)
c.1111+4780C>A (n.1111+4780C>A)
c.893C>A (p.Pro298His)
c.1145C>A (p.Pro382His)
c.1037C>A (p.Pro346His)
c.965C>A (p.Pro322His)
c.1121C>A (p.Pro374His)
c.806C>A (p.Pro269His)
6g.73610535_73610536delinsAACA645566857SLC17A5c.1123_1124delinsTT (p.Pro375Phe)
c.1072_1073delinsTT (p.Pro358Phe)
c.925_926delinsTT (p.Pro309Phe)
c.1111+4779_1111+4780delinsTT (n.1111+4779_1111+4780delinsTT)
c.892_893delinsTT (p.Pro298Phe)
c.1144_1145delinsTT (p.Pro382Phe)
c.1036_1037delinsTT (p.Pro346Phe)
c.964_965delinsTT (p.Pro322Phe)
c.1120_1121delinsTT (p.Pro374Phe)
c.805_806delinsTT (p.Pro269Phe)
 COSMIC
6g.73610536G>ACA364721182SLC17A5c.1123C>T (p.Pro375Ser)
c.1072C>T (p.Pro358Ser)
c.925C>T (p.Pro309Ser)
c.1111+4779C>T (n.1111+4779C>T)
c.892C>T (p.Pro298Ser)
c.1144C>T (p.Pro382Ser)
c.1036C>T (p.Pro346Ser)
c.964C>T (p.Pro322Ser)
c.1120C>T (p.Pro374Ser)
c.805C>T (p.Pro269Ser)
 gnomAD v4
6g.73610536G>CCA364721184SLC17A5c.1123C>G (p.Pro375Ala)
c.1072C>G (p.Pro358Ala)
c.925C>G (p.Pro309Ala)
c.1111+4779C>G (n.1111+4779C>G)
c.892C>G (p.Pro298Ala)
c.1144C>G (p.Pro382Ala)
c.1036C>G (p.Pro346Ala)
c.964C>G (p.Pro322Ala)
c.1120C>G (p.Pro374Ala)
c.805C>G (p.Pro269Ala)
6g.73610536G=CA1638229784SLC17A5c.1123C= (p.Pro375=)
c.1072C= (p.Pro358=)
c.925C= (p.Pro309=)
c.1111+4779C= (n.1111+4779C=)
c.892C= (p.Pro298=)
c.1144C= (p.Pro382=)
c.1036C= (p.Pro346=)
c.964C= (p.Pro322=)
c.1120C= (p.Pro374=)
c.805C= (p.Pro269=)
6g.73610536G>TCA364721183SLC17A5c.1123C>A (p.Pro375Thr)
c.1072C>A (p.Pro358Thr)
c.925C>A (p.Pro309Thr)
c.1111+4779C>A (n.1111+4779C>A)
c.892C>A (p.Pro298Thr)
c.1144C>A (p.Pro382Thr)
c.1036C>A (p.Pro346Thr)
c.964C>A (p.Pro322Thr)
c.1120C>A (p.Pro374Thr)
c.805C>A (p.Pro269Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.73610537T>ACA450914840SLC17A5c.1122A>T (p.Gly374=)
c.1071A>T (p.Gly357=)
c.924A>T (p.Gly308=)
c.1111+4778A>T (n.1111+4778A>T)
c.891A>T (p.Gly297=)
c.1143A>T (p.Gly381=)
c.1035A>T (p.Gly345=)
c.963A>T (p.Gly321=)
c.1119A>T (p.Gly373=)
c.804A>T (p.Gly268=)
6g.73610537T>CCA450914842SLC17A5c.1122A>G (p.Gly374=)
c.1071A>G (p.Gly357=)
c.924A>G (p.Gly308=)
c.1111+4778A>G (n.1111+4778A>G)
c.891A>G (p.Gly297=)
c.1143A>G (p.Gly381=)
c.1035A>G (p.Gly345=)
c.963A>G (p.Gly321=)
c.1119A>G (p.Gly373=)
c.804A>G (p.Gly268=)
6g.73610537T>GCA450914844SLC17A5c.1122A>C (p.Gly374=)
c.1071A>C (p.Gly357=)
c.924A>C (p.Gly308=)
c.1111+4778A>C (n.1111+4778A>C)
c.891A>C (p.Gly297=)
c.1143A>C (p.Gly381=)
c.1035A>C (p.Gly345=)
c.963A>C (p.Gly321=)
c.1119A>C (p.Gly373=)
c.804A>C (p.Gly268=)
6g.73610537_73610538delinsTCCA1638229785SLC17A5c.1121_1122delinsGA (p.Gly374=)
c.1070_1071delinsGA (p.Gly357=)
c.923_924delinsGA (p.Gly308=)
c.1111+4777_1111+4778delinsGA (n.1111+4777_1111+4778delinsGA)
c.890_891delinsGA (p.Gly297=)
c.1142_1143delinsGA (p.Gly381=)
c.1034_1035delinsGA (p.Gly345=)
c.962_963delinsGA (p.Gly321=)
c.1118_1119delinsGA (p.Gly373=)
c.803_804delinsGA (p.Gly268=)
6g.73610538C>ACA364721185SLC17A5c.1121G>T (p.Gly374Val)
c.1070G>T (p.Gly357Val)
c.923G>T (p.Gly308Val)
c.1111+4777G>T (n.1111+4777G>T)
c.890G>T (p.Gly297Val)
c.1142G>T (p.Gly381Val)
c.1034G>T (p.Gly345Val)
c.962G>T (p.Gly321Val)
c.1118G>T (p.Gly373Val)
c.803G>T (p.Gly268Val)
 gnomAD v4
6g.73610538C>GCA364721186SLC17A5c.1121G>C (p.Gly374Ala)
c.1070G>C (p.Gly357Ala)
c.923G>C (p.Gly308Ala)
c.1111+4777G>C (n.1111+4777G>C)
c.890G>C (p.Gly297Ala)
c.1142G>C (p.Gly381Ala)
c.1034G>C (p.Gly345Ala)
c.962G>C (p.Gly321Ala)
c.1118G>C (p.Gly373Ala)
c.803G>C (p.Gly268Ala)
6g.73610538C>TCA364721187SLC17A5c.1121G>A (p.Gly374Glu)
c.1070G>A (p.Gly357Glu)
c.923G>A (p.Gly308Glu)
c.1111+4777G>A (n.1111+4777G>A)
c.890G>A (p.Gly297Glu)
c.1142G>A (p.Gly381Glu)
c.1034G>A (p.Gly345Glu)
c.962G>A (p.Gly321Glu)
c.1118G>A (p.Gly373Glu)
c.803G>A (p.Gly268Glu)
 gnomAD v4
6g.73610539delCA16041079SLC17A5c.1121del (p.Gly374AspfsTer7)
c.1070del (p.Gly357AspfsTer7)
c.923del (p.Gly308AspfsTer7)
c.1111+4777del (n.1111+4777del)
c.890del (p.Gly297AspfsTer7)
c.1142del (p.Gly381AspfsTer7)
c.1034del (p.Gly345AspfsTer7)
c.962del (p.Gly321AspfsTer7)
c.1118del (p.Gly373AspfsTer7)
c.803del (p.Gly268AspfsTer7)
 ClinVar dbSNP gnomAD v4
6g.73610539C>ACA364721188SLC17A5c.1120G>T (p.Gly374Ter)
c.1069G>T (p.Gly357Ter)
c.922G>T (p.Gly308Ter)
c.1111+4776G>T (n.1111+4776G>T)
c.889G>T (p.Gly297Ter)
c.1141G>T (p.Gly381Ter)
c.1033G>T (p.Gly345Ter)
c.961G>T (p.Gly321Ter)
c.1117G>T (p.Gly373Ter)
c.802G>T (p.Gly268Ter)
6g.73610539C>GCA364721189SLC17A5c.1120G>C (p.Gly374Arg)
c.1069G>C (p.Gly357Arg)
c.922G>C (p.Gly308Arg)
c.1111+4776G>C (n.1111+4776G>C)
c.889G>C (p.Gly297Arg)
c.1141G>C (p.Gly381Arg)
c.1033G>C (p.Gly345Arg)
c.961G>C (p.Gly321Arg)
c.1117G>C (p.Gly373Arg)
c.802G>C (p.Gly268Arg)
6g.73610539C>TCA364721190SLC17A5c.1120G>A (p.Gly374Arg)
c.1069G>A (p.Gly357Arg)
c.922G>A (p.Gly308Arg)
c.1111+4776G>A (n.1111+4776G>A)
c.889G>A (p.Gly297Arg)
c.1141G>A (p.Gly381Arg)
c.1033G>A (p.Gly345Arg)
c.961G>A (p.Gly321Arg)
c.1117G>A (p.Gly373Arg)
c.802G>A (p.Gly268Arg)
6g.73610540A=CA1638229786SLC17A5c.1119T= (p.Ile373=)
c.1068T= (p.Ile356=)
c.921T= (p.Ile307=)
c.1111+4775T= (n.1111+4775T=)
c.888T= (p.Ile296=)
c.1140T= (p.Ile380=)
c.1032T= (p.Ile344=)
c.960T= (p.Ile320=)
c.1116T= (p.Ile372=)
c.801T= (p.Ile267=)
6g.73610540A>CCA3890337SLC17A5c.1119T>G (p.Ile373Met)
c.1068T>G (p.Ile356Met)
c.921T>G (p.Ile307Met)
c.1111+4775T>G (n.1111+4775T>G)
c.888T>G (p.Ile296Met)
c.1140T>G (p.Ile380Met)
c.1032T>G (p.Ile344Met)
c.960T>G (p.Ile320Met)
c.1116T>G (p.Ile372Met)
c.801T>G (p.Ile267Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73610540A>GCA450914852SLC17A5c.1119T>C (p.Ile373=)
c.1068T>C (p.Ile356=)
c.921T>C (p.Ile307=)
c.1111+4775T>C (n.1111+4775T>C)
c.888T>C (p.Ile296=)
c.1140T>C (p.Ile380=)
c.1032T>C (p.Ile344=)
c.960T>C (p.Ile320=)
c.1116T>C (p.Ile372=)
c.801T>C (p.Ile267=)
6g.73610540A>TCA450914853SLC17A5c.1119T>A (p.Ile373=)
c.1068T>A (p.Ile356=)
c.921T>A (p.Ile307=)
c.1111+4775T>A (n.1111+4775T>A)
c.888T>A (p.Ile296=)
c.1140T>A (p.Ile380=)
c.1032T>A (p.Ile344=)
c.960T>A (p.Ile320=)
c.1116T>A (p.Ile372=)
c.801T>A (p.Ile267=)
6g.73610541A=CA1638229787SLC17A5c.1118T= (p.Ile373=)
c.1067T= (p.Ile356=)
c.920T= (p.Ile307=)
c.1111+4774T= (n.1111+4774T=)
c.887T= (p.Ile296=)
c.1139T= (p.Ile380=)
c.1031T= (p.Ile344=)
c.959T= (p.Ile320=)
c.1115T= (p.Ile372=)
c.800T= (p.Ile267=)
6g.73610541A>CCA364721191SLC17A5c.1118T>G (p.Ile373Ser)
c.1067T>G (p.Ile356Ser)
c.920T>G (p.Ile307Ser)
c.1111+4774T>G (n.1111+4774T>G)
c.887T>G (p.Ile296Ser)
c.1139T>G (p.Ile380Ser)
c.1031T>G (p.Ile344Ser)
c.959T>G (p.Ile320Ser)
c.1115T>G (p.Ile372Ser)
c.800T>G (p.Ile267Ser)
6g.73610541A>GCA3890338SLC17A5c.1118T>C (p.Ile373Thr)
c.1067T>C (p.Ile356Thr)
c.920T>C (p.Ile307Thr)
c.1111+4774T>C (n.1111+4774T>C)
c.887T>C (p.Ile296Thr)
c.1139T>C (p.Ile380Thr)
c.1031T>C (p.Ile344Thr)
c.959T>C (p.Ile320Thr)
c.1115T>C (p.Ile372Thr)
c.800T>C (p.Ile267Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73610541A>TCA364721192SLC17A5c.1118T>A (p.Ile373Asn)
c.1067T>A (p.Ile356Asn)
c.920T>A (p.Ile307Asn)
c.1111+4774T>A (n.1111+4774T>A)
c.887T>A (p.Ile296Asn)
c.1139T>A (p.Ile380Asn)
c.1031T>A (p.Ile344Asn)
c.959T>A (p.Ile320Asn)
c.1115T>A (p.Ile372Asn)
c.800T>A (p.Ile267Asn)
6g.73610542T>ACA364721195SLC17A5c.1117A>T (p.Ile373Phe)
c.1066A>T (p.Ile356Phe)
c.919A>T (p.Ile307Phe)
c.1111+4773A>T (n.1111+4773A>T)
c.886A>T (p.Ile296Phe)
c.1138A>T (p.Ile380Phe)
c.1030A>T (p.Ile344Phe)
c.958A>T (p.Ile320Phe)
c.1114A>T (p.Ile372Phe)
c.799A>T (p.Ile267Phe)
6g.73610542T>CCA364721194SLC17A5c.1117A>G (p.Ile373Val)
c.1066A>G (p.Ile356Val)
c.919A>G (p.Ile307Val)
c.1111+4773A>G (n.1111+4773A>G)
c.886A>G (p.Ile296Val)
c.1138A>G (p.Ile380Val)
c.1030A>G (p.Ile344Val)
c.958A>G (p.Ile320Val)
c.1114A>G (p.Ile372Val)
c.799A>G (p.Ile267Val)
 gnomAD v4
6g.73610542T>GCA364721193SLC17A5c.1117A>C (p.Ile373Leu)
c.1066A>C (p.Ile356Leu)
c.919A>C (p.Ile307Leu)
c.1111+4773A>C (n.1111+4773A>C)
c.886A>C (p.Ile296Leu)
c.1138A>C (p.Ile380Leu)
c.1030A>C (p.Ile344Leu)
c.958A>C (p.Ile320Leu)
c.1114A>C (p.Ile372Leu)
c.799A>C (p.Ile267Leu)
6g.73610543C>ACA364721196SLC17A5c.1116G>T (p.Met372Ile)
c.1065G>T (p.Met355Ile)
c.918G>T (p.Met306Ile)
c.1111+4772G>T (n.1111+4772G>T)
c.885G>T (p.Met295Ile)
c.1137G>T (p.Met379Ile)
c.1029G>T (p.Met343Ile)
c.957G>T (p.Met319Ile)
c.1113G>T (p.Met371Ile)
c.798G>T (p.Met266Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.73610543C=CA1638229788SLC17A5c.1116G= (p.Met372=)
c.1065G= (p.Met355=)
c.918G= (p.Met306=)
c.1111+4772G= (n.1111+4772G=)
c.885G= (p.Met295=)
c.1137G= (p.Met379=)
c.1029G= (p.Met343=)
c.957G= (p.Met319=)
c.1113G= (p.Met371=)
c.798G= (p.Met266=)
6g.73610543C>GCA364721197SLC17A5c.1116G>C (p.Met372Ile)
c.1065G>C (p.Met355Ile)
c.918G>C (p.Met306Ile)
c.1111+4772G>C (n.1111+4772G>C)
c.885G>C (p.Met295Ile)
c.1137G>C (p.Met379Ile)
c.1029G>C (p.Met343Ile)
c.957G>C (p.Met319Ile)
c.1113G>C (p.Met371Ile)
c.798G>C (p.Met266Ile)
6g.73610543C>TCA364721198SLC17A5c.1116G>A (p.Met372Ile)
c.1065G>A (p.Met355Ile)
c.918G>A (p.Met306Ile)
c.1111+4772G>A (n.1111+4772G>A)
c.885G>A (p.Met295Ile)
c.1137G>A (p.Met379Ile)
c.1029G>A (p.Met343Ile)
c.957G>A (p.Met319Ile)
c.1113G>A (p.Met371Ile)
c.798G>A (p.Met266Ile)
6g.73610544A>CCA364721199SLC17A5c.1115T>G (p.Met372Arg)
c.1064T>G (p.Met355Arg)
c.917T>G (p.Met306Arg)
c.1111+4771T>G (n.1111+4771T>G)
c.884T>G (p.Met295Arg)
c.1136T>G (p.Met379Arg)
c.1028T>G (p.Met343Arg)
c.956T>G (p.Met319Arg)
c.1112T>G (p.Met371Arg)
c.797T>G (p.Met266Arg)
6g.73610544A>GCA364721200SLC17A5c.1115T>C (p.Met372Thr)
c.1064T>C (p.Met355Thr)
c.917T>C (p.Met306Thr)
c.1111+4771T>C (n.1111+4771T>C)
c.884T>C (p.Met295Thr)
c.1136T>C (p.Met379Thr)
c.1028T>C (p.Met343Thr)
c.956T>C (p.Met319Thr)
c.1112T>C (p.Met371Thr)
c.797T>C (p.Met266Thr)
 gnomAD v4
6g.73610544A>TCA364721201SLC17A5c.1115T>A (p.Met372Lys)
c.1064T>A (p.Met355Lys)
c.917T>A (p.Met306Lys)
c.1111+4771T>A (n.1111+4771T>A)
c.884T>A (p.Met295Lys)
c.1136T>A (p.Met379Lys)
c.1028T>A (p.Met343Lys)
c.956T>A (p.Met319Lys)
c.1112T>A (p.Met371Lys)
c.797T>A (p.Met266Lys)
6g.73610545T>ACA364721202SLC17A5c.1114A>T (p.Met372Leu)
c.1063A>T (p.Met355Leu)
c.916A>T (p.Met306Leu)
c.1111+4770A>T (n.1111+4770A>T)
c.883A>T (p.Met295Leu)
c.1135A>T (p.Met379Leu)
c.1027A>T (p.Met343Leu)
c.955A>T (p.Met319Leu)
c.1111A>T (p.Met371Leu)
c.796A>T (p.Met266Leu)
6g.73610545T>CCA364721203SLC17A5c.1114A>G (p.Met372Val)
c.1063A>G (p.Met355Val)
c.916A>G (p.Met306Val)
c.1111+4770A>G (n.1111+4770A>G)
c.883A>G (p.Met295Val)
c.1135A>G (p.Met379Val)
c.1027A>G (p.Met343Val)
c.955A>G (p.Met319Val)
c.1111A>G (p.Met371Val)
c.796A>G (p.Met266Val)
 gnomAD v4

Number of alleles fetched