Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.73610441G>ACA450914556SLC17A5c.1218C>T (p.Cys406=)
c.1167C>T (p.Cys389=)
c.1020C>T (p.Cys340=)
c.1111+4874C>T (n.1111+4874C>T)
c.987C>T (p.Cys329=)
c.1239C>T (p.Cys413=)
c.1131C>T (p.Cys377=)
c.1059C>T (p.Cys353=)
c.1215C>T (p.Cys405=)
c.900C>T (p.Cys300=)
6g.73610441G>CCA364720972SLC17A5c.1218C>G (p.Cys406Trp)
c.1167C>G (p.Cys389Trp)
c.1020C>G (p.Cys340Trp)
c.1111+4874C>G (n.1111+4874C>G)
c.987C>G (p.Cys329Trp)
c.1239C>G (p.Cys413Trp)
c.1131C>G (p.Cys377Trp)
c.1059C>G (p.Cys353Trp)
c.1215C>G (p.Cys405Trp)
c.900C>G (p.Cys300Trp)
6g.73610441G>TCA364720974SLC17A5c.1218C>A (p.Cys406Ter)
c.1167C>A (p.Cys389Ter)
c.1020C>A (p.Cys340Ter)
c.1111+4874C>A (n.1111+4874C>A)
c.987C>A (p.Cys329Ter)
c.1239C>A (p.Cys413Ter)
c.1131C>A (p.Cys377Ter)
c.1059C>A (p.Cys353Ter)
c.1215C>A (p.Cys405Ter)
c.900C>A (p.Cys300Ter)
6g.73610442C>ACA364720975SLC17A5c.1217G>T (p.Cys406Phe)
c.1166G>T (p.Cys389Phe)
c.1019G>T (p.Cys340Phe)
c.1111+4873G>T (n.1111+4873G>T)
c.986G>T (p.Cys329Phe)
c.1238G>T (p.Cys413Phe)
c.1130G>T (p.Cys377Phe)
c.1058G>T (p.Cys353Phe)
c.1214G>T (p.Cys405Phe)
c.899G>T (p.Cys300Phe)
6g.73610442C>GCA364720977SLC17A5c.1217G>C (p.Cys406Ser)
c.1166G>C (p.Cys389Ser)
c.1019G>C (p.Cys340Ser)
c.1111+4873G>C (n.1111+4873G>C)
c.986G>C (p.Cys329Ser)
c.1238G>C (p.Cys413Ser)
c.1130G>C (p.Cys377Ser)
c.1058G>C (p.Cys353Ser)
c.1214G>C (p.Cys405Ser)
c.899G>C (p.Cys300Ser)
6g.73610442C>TCA364720978SLC17A5c.1217G>A (p.Cys406Tyr)
c.1166G>A (p.Cys389Tyr)
c.1019G>A (p.Cys340Tyr)
c.1111+4873G>A (n.1111+4873G>A)
c.986G>A (p.Cys329Tyr)
c.1238G>A (p.Cys413Tyr)
c.1130G>A (p.Cys377Tyr)
c.1058G>A (p.Cys353Tyr)
c.1214G>A (p.Cys405Tyr)
c.899G>A (p.Cys300Tyr)
6g.73610443A>CCA364720980SLC17A5c.1216T>G (p.Cys406Gly)
c.1165T>G (p.Cys389Gly)
c.1018T>G (p.Cys340Gly)
c.1111+4872T>G (n.1111+4872T>G)
c.985T>G (p.Cys329Gly)
c.1237T>G (p.Cys413Gly)
c.1129T>G (p.Cys377Gly)
c.1057T>G (p.Cys353Gly)
c.1213T>G (p.Cys405Gly)
c.898T>G (p.Cys300Gly)
6g.73610443A>GCA364720982SLC17A5c.1216T>C (p.Cys406Arg)
c.1165T>C (p.Cys389Arg)
c.1018T>C (p.Cys340Arg)
c.1111+4872T>C (n.1111+4872T>C)
c.985T>C (p.Cys329Arg)
c.1237T>C (p.Cys413Arg)
c.1129T>C (p.Cys377Arg)
c.1057T>C (p.Cys353Arg)
c.1213T>C (p.Cys405Arg)
c.898T>C (p.Cys300Arg)
6g.73610443A>TCA364720983SLC17A5c.1216T>A (p.Cys406Ser)
c.1165T>A (p.Cys389Ser)
c.1018T>A (p.Cys340Ser)
c.1111+4872T>A (n.1111+4872T>A)
c.985T>A (p.Cys329Ser)
c.1237T>A (p.Cys413Ser)
c.1129T>A (p.Cys377Ser)
c.1057T>A (p.Cys353Ser)
c.1213T>A (p.Cys405Ser)
c.898T>A (p.Cys300Ser)
6g.73610444A>CCA364720985SLC17A5c.1215T>G (p.Phe405Leu)
c.1164T>G (p.Phe388Leu)
c.1017T>G (p.Phe339Leu)
c.1111+4871T>G (n.1111+4871T>G)
c.984T>G (p.Phe328Leu)
c.1236T>G (p.Phe412Leu)
c.1128T>G (p.Phe376Leu)
c.1056T>G (p.Phe352Leu)
c.1212T>G (p.Phe404Leu)
c.897T>G (p.Phe299Leu)
6g.73610444A>GCA450914566SLC17A5c.1215T>C (p.Phe405=)
c.1164T>C (p.Phe388=)
c.1017T>C (p.Phe339=)
c.1111+4871T>C (n.1111+4871T>C)
c.984T>C (p.Phe328=)
c.1236T>C (p.Phe412=)
c.1128T>C (p.Phe376=)
c.1056T>C (p.Phe352=)
c.1212T>C (p.Phe404=)
c.897T>C (p.Phe299=)
 ClinVar dbSNP
6g.73610444A>TCA364720987SLC17A5c.1215T>A (p.Phe405Leu)
c.1164T>A (p.Phe388Leu)
c.1017T>A (p.Phe339Leu)
c.1111+4871T>A (n.1111+4871T>A)
c.984T>A (p.Phe328Leu)
c.1236T>A (p.Phe412Leu)
c.1128T>A (p.Phe376Leu)
c.1056T>A (p.Phe352Leu)
c.1212T>A (p.Phe404Leu)
c.897T>A (p.Phe299Leu)
6g.73610445A>CCA364720988SLC17A5c.1214T>G (p.Phe405Cys)
c.1163T>G (p.Phe388Cys)
c.1016T>G (p.Phe339Cys)
c.1111+4870T>G (n.1111+4870T>G)
c.983T>G (p.Phe328Cys)
c.1235T>G (p.Phe412Cys)
c.1127T>G (p.Phe376Cys)
c.1055T>G (p.Phe352Cys)
c.1211T>G (p.Phe404Cys)
c.896T>G (p.Phe299Cys)
 gnomAD v4
6g.73610445A>GCA364720990SLC17A5c.1214T>C (p.Phe405Ser)
c.1163T>C (p.Phe388Ser)
c.1016T>C (p.Phe339Ser)
c.1111+4870T>C (n.1111+4870T>C)
c.983T>C (p.Phe328Ser)
c.1235T>C (p.Phe412Ser)
c.1127T>C (p.Phe376Ser)
c.1055T>C (p.Phe352Ser)
c.1211T>C (p.Phe404Ser)
c.896T>C (p.Phe299Ser)
6g.73610445A>TCA364720991SLC17A5c.1214T>A (p.Phe405Tyr)
c.1163T>A (p.Phe388Tyr)
c.1016T>A (p.Phe339Tyr)
c.1111+4870T>A (n.1111+4870T>A)
c.983T>A (p.Phe328Tyr)
c.1235T>A (p.Phe412Tyr)
c.1127T>A (p.Phe376Tyr)
c.1055T>A (p.Phe352Tyr)
c.1211T>A (p.Phe404Tyr)
c.896T>A (p.Phe299Tyr)
6g.73610446A>CCA364720996SLC17A5c.1213T>G (p.Phe405Val)
c.1162T>G (p.Phe388Val)
c.1015T>G (p.Phe339Val)
c.1111+4869T>G (n.1111+4869T>G)
c.982T>G (p.Phe328Val)
c.1234T>G (p.Phe412Val)
c.1126T>G (p.Phe376Val)
c.1054T>G (p.Phe352Val)
c.1210T>G (p.Phe404Val)
c.895T>G (p.Phe299Val)
6g.73610446A>GCA364720995SLC17A5c.1213T>C (p.Phe405Leu)
c.1162T>C (p.Phe388Leu)
c.1015T>C (p.Phe339Leu)
c.1111+4869T>C (n.1111+4869T>C)
c.982T>C (p.Phe328Leu)
c.1234T>C (p.Phe412Leu)
c.1126T>C (p.Phe376Leu)
c.1054T>C (p.Phe352Leu)
c.1210T>C (p.Phe404Leu)
c.895T>C (p.Phe299Leu)
6g.73610446A>TCA364720993SLC17A5c.1213T>A (p.Phe405Ile)
c.1162T>A (p.Phe388Ile)
c.1015T>A (p.Phe339Ile)
c.1111+4869T>A (n.1111+4869T>A)
c.982T>A (p.Phe328Ile)
c.1234T>A (p.Phe412Ile)
c.1126T>A (p.Phe376Ile)
c.1054T>A (p.Phe352Ile)
c.1210T>A (p.Phe404Ile)
c.895T>A (p.Phe299Ile)
6g.73610447G>ACA450914572SLC17A5c.1212C>T (p.Gly404=)
c.1161C>T (p.Gly387=)
c.1014C>T (p.Gly338=)
c.1111+4868C>T (n.1111+4868C>T)
c.981C>T (p.Gly327=)
c.1233C>T (p.Gly411=)
c.1125C>T (p.Gly375=)
c.1053C>T (p.Gly351=)
c.1209C>T (p.Gly403=)
c.894C>T (p.Gly298=)
 gnomAD v4
6g.73610447G>CCA450914573SLC17A5c.1212C>G (p.Gly404=)
c.1161C>G (p.Gly387=)
c.1014C>G (p.Gly338=)
c.1111+4868C>G (n.1111+4868C>G)
c.981C>G (p.Gly327=)
c.1233C>G (p.Gly411=)
c.1125C>G (p.Gly375=)
c.1053C>G (p.Gly351=)
c.1209C>G (p.Gly403=)
c.894C>G (p.Gly298=)
6g.73610447G>TCA450914575SLC17A5c.1212C>A (p.Gly404=)
c.1161C>A (p.Gly387=)
c.1014C>A (p.Gly338=)
c.1111+4868C>A (n.1111+4868C>A)
c.981C>A (p.Gly327=)
c.1233C>A (p.Gly411=)
c.1125C>A (p.Gly375=)
c.1053C>A (p.Gly351=)
c.1209C>A (p.Gly403=)
c.894C>A (p.Gly298=)
6g.73610448C>ACA364720998SLC17A5c.1211G>T (p.Gly404Val)
c.1160G>T (p.Gly387Val)
c.1013G>T (p.Gly338Val)
c.1111+4867G>T (n.1111+4867G>T)
c.980G>T (p.Gly327Val)
c.1232G>T (p.Gly411Val)
c.1124G>T (p.Gly375Val)
c.1052G>T (p.Gly351Val)
c.1208G>T (p.Gly403Val)
c.893G>T (p.Gly298Val)
6g.73610448C=CA1638229752SLC17A5c.1211G= (p.Gly404=)
c.1160G= (p.Gly387=)
c.1013G= (p.Gly338=)
c.1111+4867G= (n.1111+4867G=)
c.980G= (p.Gly327=)
c.1232G= (p.Gly411=)
c.1124G= (p.Gly375=)
c.1052G= (p.Gly351=)
c.1208G= (p.Gly403=)
c.893G= (p.Gly298=)
6g.73610448C>GCA364721001SLC17A5c.1211G>C (p.Gly404Ala)
c.1160G>C (p.Gly387Ala)
c.1013G>C (p.Gly338Ala)
c.1111+4867G>C (n.1111+4867G>C)
c.980G>C (p.Gly327Ala)
c.1232G>C (p.Gly411Ala)
c.1124G>C (p.Gly375Ala)
c.1052G>C (p.Gly351Ala)
c.1208G>C (p.Gly403Ala)
c.893G>C (p.Gly298Ala)
6g.73610448C>TCA364721000SLC17A5c.1211G>A (p.Gly404Asp)
c.1160G>A (p.Gly387Asp)
c.1013G>A (p.Gly338Asp)
c.1111+4867G>A (n.1111+4867G>A)
c.980G>A (p.Gly327Asp)
c.1232G>A (p.Gly411Asp)
c.1124G>A (p.Gly375Asp)
c.1052G>A (p.Gly351Asp)
c.1208G>A (p.Gly403Asp)
c.893G>A (p.Gly298Asp)
 dbSNP gnomAD v4
6g.73610449C>ACA364721003SLC17A5c.1210G>T (p.Gly404Cys)
c.1159G>T (p.Gly387Cys)
c.1012G>T (p.Gly338Cys)
c.1111+4866G>T (n.1111+4866G>T)
c.979G>T (p.Gly327Cys)
c.1231G>T (p.Gly411Cys)
c.1123G>T (p.Gly375Cys)
c.1051G>T (p.Gly351Cys)
c.1207G>T (p.Gly403Cys)
c.892G>T (p.Gly298Cys)
 COSMIC
6g.73610449C=CA1638229753SLC17A5c.1210G= (p.Gly404=)
c.1159G= (p.Gly387=)
c.1012G= (p.Gly338=)
c.1111+4866G= (n.1111+4866G=)
c.979G= (p.Gly327=)
c.1231G= (p.Gly411=)
c.1123G= (p.Gly375=)
c.1051G= (p.Gly351=)
c.1207G= (p.Gly403=)
c.892G= (p.Gly298=)
6g.73610449C>GCA3890323SLC17A5c.1210G>C (p.Gly404Arg)
c.1159G>C (p.Gly387Arg)
c.1012G>C (p.Gly338Arg)
c.1111+4866G>C (n.1111+4866G>C)
c.979G>C (p.Gly327Arg)
c.1231G>C (p.Gly411Arg)
c.1123G>C (p.Gly375Arg)
c.1051G>C (p.Gly351Arg)
c.1207G>C (p.Gly403Arg)
c.892G>C (p.Gly298Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73610449C>TCA364721004SLC17A5c.1210G>A (p.Gly404Ser)
c.1159G>A (p.Gly387Ser)
c.1012G>A (p.Gly338Ser)
c.1111+4866G>A (n.1111+4866G>A)
c.979G>A (p.Gly327Ser)
c.1231G>A (p.Gly411Ser)
c.1123G>A (p.Gly375Ser)
c.1051G>A (p.Gly351Ser)
c.1207G>A (p.Gly403Ser)
c.892G>A (p.Gly298Ser)
6g.73610450_73610451delCA913111551SLC17A5c.1209_1210del (p.Gly404LeufsTer7)
c.1158_1159del (p.Gly387LeufsTer7)
c.1011_1012del (p.Gly338LeufsTer7)
c.1111+4865_1111+4866del (n.1111+4865_1111+4866del)
c.978_979del (p.Gly327LeufsTer7)
c.1230_1231del (p.Gly411LeufsTer7)
c.1122_1123del (p.Gly375LeufsTer7)
c.1050_1051del (p.Gly351LeufsTer7)
c.1206_1207del (p.Gly403LeufsTer7)
c.891_892del (p.Gly298LeufsTer7)
6g.73610450T>ACA450914582SLC17A5c.1209A>T (p.Gly403=)
c.1158A>T (p.Gly386=)
c.1011A>T (p.Gly337=)
c.1111+4865A>T (n.1111+4865A>T)
c.978A>T (p.Gly326=)
c.1230A>T (p.Gly410=)
c.1122A>T (p.Gly374=)
c.1050A>T (p.Gly350=)
c.1206A>T (p.Gly402=)
c.891A>T (p.Gly297=)
6g.73610450T>CCA450914583SLC17A5c.1209A>G (p.Gly403=)
c.1158A>G (p.Gly386=)
c.1011A>G (p.Gly337=)
c.1111+4865A>G (n.1111+4865A>G)
c.978A>G (p.Gly326=)
c.1230A>G (p.Gly410=)
c.1122A>G (p.Gly374=)
c.1050A>G (p.Gly350=)
c.1206A>G (p.Gly402=)
c.891A>G (p.Gly297=)
6g.73610450T>GCA450914585SLC17A5c.1209A>C (p.Gly403=)
c.1158A>C (p.Gly386=)
c.1011A>C (p.Gly337=)
c.1111+4865A>C (n.1111+4865A>C)
c.978A>C (p.Gly326=)
c.1230A>C (p.Gly410=)
c.1122A>C (p.Gly374=)
c.1050A>C (p.Gly350=)
c.1206A>C (p.Gly402=)
c.891A>C (p.Gly297=)
6g.73610450_73610451delinsTCCA1638229754SLC17A5c.1208_1209delinsGA (p.Gly403=)
c.1157_1158delinsGA (p.Gly386=)
c.1010_1011delinsGA (p.Gly337=)
c.1111+4864_1111+4865delinsGA (n.1111+4864_1111+4865delinsGA)
c.977_978delinsGA (p.Gly326=)
c.1229_1230delinsGA (p.Gly410=)
c.1121_1122delinsGA (p.Gly374=)
c.1049_1050delinsGA (p.Gly350=)
c.1205_1206delinsGA (p.Gly402=)
c.890_891delinsGA (p.Gly297=)
6g.73610451C>ACA364721007SLC17A5c.1208G>T (p.Gly403Val)
c.1157G>T (p.Gly386Val)
c.1010G>T (p.Gly337Val)
c.1111+4864G>T (n.1111+4864G>T)
c.977G>T (p.Gly326Val)
c.1229G>T (p.Gly410Val)
c.1121G>T (p.Gly374Val)
c.1049G>T (p.Gly350Val)
c.1205G>T (p.Gly402Val)
c.890G>T (p.Gly297Val)
6g.73610451C>GCA364721010SLC17A5c.1208G>C (p.Gly403Ala)
c.1157G>C (p.Gly386Ala)
c.1010G>C (p.Gly337Ala)
c.1111+4864G>C (n.1111+4864G>C)
c.977G>C (p.Gly326Ala)
c.1229G>C (p.Gly410Ala)
c.1121G>C (p.Gly374Ala)
c.1049G>C (p.Gly350Ala)
c.1205G>C (p.Gly402Ala)
c.890G>C (p.Gly297Ala)
6g.73610451C>TCA364721009SLC17A5c.1208G>A (p.Gly403Glu)
c.1157G>A (p.Gly386Glu)
c.1010G>A (p.Gly337Glu)
c.1111+4864G>A (n.1111+4864G>A)
c.977G>A (p.Gly326Glu)
c.1229G>A (p.Gly410Glu)
c.1121G>A (p.Gly374Glu)
c.1049G>A (p.Gly350Glu)
c.1205G>A (p.Gly402Glu)
c.890G>A (p.Gly297Glu)
6g.73610453delCA658821771SLC17A5c.1208del (p.Gly403GlufsTer?)
c.1157del (p.Gly386GlufsTer?)
c.1010del (p.Gly337GlufsTer?)
c.1111+4864del (n.1111+4864del)
c.977del (p.Gly326GlufsTer?)
c.1229del (p.Gly410GlufsTer?)
c.1121del (p.Gly374GlufsTer?)
c.1049del (p.Gly350GlufsTer?)
c.1205del (p.Gly402GlufsTer?)
c.890del (p.Gly297GlufsTer?)
 ClinVar dbSNP
6g.73610452C>ACA364721011SLC17A5c.1207G>T (p.Gly403Ter)
c.1156G>T (p.Gly386Ter)
c.1009G>T (p.Gly337Ter)
c.1111+4863G>T (n.1111+4863G>T)
c.976G>T (p.Gly326Ter)
c.1228G>T (p.Gly410Ter)
c.1120G>T (p.Gly374Ter)
c.1048G>T (p.Gly350Ter)
c.1204G>T (p.Gly402Ter)
c.889G>T (p.Gly297Ter)
6g.73610452C=CA1638229755SLC17A5c.1207G= (p.Gly403=)
c.1156G= (p.Gly386=)
c.1009G= (p.Gly337=)
c.1111+4863G= (n.1111+4863G=)
c.976G= (p.Gly326=)
c.1228G= (p.Gly410=)
c.1120G= (p.Gly374=)
c.1048G= (p.Gly350=)
c.1204G= (p.Gly402=)
c.889G= (p.Gly297=)
6g.73610452C>GCA364721014SLC17A5c.1207G>C (p.Gly403Arg)
c.1156G>C (p.Gly386Arg)
c.1009G>C (p.Gly337Arg)
c.1111+4863G>C (n.1111+4863G>C)
c.976G>C (p.Gly326Arg)
c.1228G>C (p.Gly410Arg)
c.1120G>C (p.Gly374Arg)
c.1048G>C (p.Gly350Arg)
c.1204G>C (p.Gly402Arg)
c.889G>C (p.Gly297Arg)
6g.73610452C>TCA140979026SLC17A5c.1207G>A (p.Gly403Arg)
c.1156G>A (p.Gly386Arg)
c.1009G>A (p.Gly337Arg)
c.1111+4863G>A (n.1111+4863G>A)
c.976G>A (p.Gly326Arg)
c.1228G>A (p.Gly410Arg)
c.1120G>A (p.Gly374Arg)
c.1048G>A (p.Gly350Arg)
c.1204G>A (p.Gly402Arg)
c.889G>A (p.Gly297Arg)
 dbSNP
6g.73610453C>ACA450914590SLC17A5c.1206G>T (p.Leu402=)
c.1155G>T (p.Leu385=)
c.1008G>T (p.Leu336=)
c.1111+4862G>T (n.1111+4862G>T)
c.975G>T (p.Leu325=)
c.1227G>T (p.Leu409=)
c.1119G>T (p.Leu373=)
c.1047G>T (p.Leu349=)
c.1203G>T (p.Leu401=)
c.888G>T (p.Leu296=)
6g.73610453C>GCA450914591SLC17A5c.1206G>C (p.Leu402=)
c.1155G>C (p.Leu385=)
c.1008G>C (p.Leu336=)
c.1111+4862G>C (n.1111+4862G>C)
c.975G>C (p.Leu325=)
c.1227G>C (p.Leu409=)
c.1119G>C (p.Leu373=)
c.1047G>C (p.Leu349=)
c.1203G>C (p.Leu401=)
c.888G>C (p.Leu296=)
6g.73610453C>TCA450914594SLC17A5c.1206G>A (p.Leu402=)
c.1155G>A (p.Leu385=)
c.1008G>A (p.Leu336=)
c.1111+4862G>A (n.1111+4862G>A)
c.975G>A (p.Leu325=)
c.1227G>A (p.Leu409=)
c.1119G>A (p.Leu373=)
c.1047G>A (p.Leu349=)
c.1203G>A (p.Leu401=)
c.888G>A (p.Leu296=)
6g.73610454A>CCA364721016SLC17A5c.1205T>G (p.Leu402Arg)
c.1154T>G (p.Leu385Arg)
c.1007T>G (p.Leu336Arg)
c.1111+4861T>G (n.1111+4861T>G)
c.974T>G (p.Leu325Arg)
c.1226T>G (p.Leu409Arg)
c.1118T>G (p.Leu373Arg)
c.1046T>G (p.Leu349Arg)
c.1202T>G (p.Leu401Arg)
c.887T>G (p.Leu296Arg)
6g.73610454A>GCA364721017SLC17A5c.1205T>C (p.Leu402Pro)
c.1154T>C (p.Leu385Pro)
c.1007T>C (p.Leu336Pro)
c.1111+4861T>C (n.1111+4861T>C)
c.974T>C (p.Leu325Pro)
c.1226T>C (p.Leu409Pro)
c.1118T>C (p.Leu373Pro)
c.1046T>C (p.Leu349Pro)
c.1202T>C (p.Leu401Pro)
c.887T>C (p.Leu296Pro)
 gnomAD v4
6g.73610454A>TCA364721018SLC17A5c.1205T>A (p.Leu402Gln)
c.1154T>A (p.Leu385Gln)
c.1007T>A (p.Leu336Gln)
c.1111+4861T>A (n.1111+4861T>A)
c.974T>A (p.Leu325Gln)
c.1226T>A (p.Leu409Gln)
c.1118T>A (p.Leu373Gln)
c.1046T>A (p.Leu349Gln)
c.1202T>A (p.Leu401Gln)
c.887T>A (p.Leu296Gln)
6g.73610455G>ACA450914598SLC17A5c.1204C>T (p.Leu402=)
c.1153C>T (p.Leu385=)
c.1006C>T (p.Leu336=)
c.1111+4860C>T (n.1111+4860C>T)
c.973C>T (p.Leu325=)
c.1225C>T (p.Leu409=)
c.1117C>T (p.Leu373=)
c.1045C>T (p.Leu349=)
c.1201C>T (p.Leu401=)
c.886C>T (p.Leu296=)
 dbSNP
6g.73610455G>CCA364721019SLC17A5c.1204C>G (p.Leu402Val)
c.1153C>G (p.Leu385Val)
c.1006C>G (p.Leu336Val)
c.1111+4860C>G (n.1111+4860C>G)
c.973C>G (p.Leu325Val)
c.1225C>G (p.Leu409Val)
c.1117C>G (p.Leu373Val)
c.1045C>G (p.Leu349Val)
c.1201C>G (p.Leu401Val)
c.886C>G (p.Leu296Val)
 gnomAD v4
6g.73610455G>TCA364721020SLC17A5c.1204C>A (p.Leu402Met)
c.1153C>A (p.Leu385Met)
c.1006C>A (p.Leu336Met)
c.1111+4860C>A (n.1111+4860C>A)
c.973C>A (p.Leu325Met)
c.1225C>A (p.Leu409Met)
c.1117C>A (p.Leu373Met)
c.1045C>A (p.Leu349Met)
c.1201C>A (p.Leu401Met)
c.886C>A (p.Leu296Met)
6g.73610456T>ACA450914602SLC17A5c.1203A>T (p.Thr401=)
c.1152A>T (p.Thr384=)
c.1005A>T (p.Thr335=)
c.1111+4859A>T (n.1111+4859A>T)
c.972A>T (p.Thr324=)
c.1224A>T (p.Thr408=)
c.1116A>T (p.Thr372=)
c.1044A>T (p.Thr348=)
c.1200A>T (p.Thr400=)
c.885A>T (p.Thr295=)
6g.73610456T>CCA450914603SLC17A5c.1203A>G (p.Thr401=)
c.1152A>G (p.Thr384=)
c.1005A>G (p.Thr335=)
c.1111+4859A>G (n.1111+4859A>G)
c.972A>G (p.Thr324=)
c.1224A>G (p.Thr408=)
c.1116A>G (p.Thr372=)
c.1044A>G (p.Thr348=)
c.1200A>G (p.Thr400=)
c.885A>G (p.Thr295=)
 gnomAD v4
6g.73610456T>GCA450914605SLC17A5c.1203A>C (p.Thr401=)
c.1152A>C (p.Thr384=)
c.1005A>C (p.Thr335=)
c.1111+4859A>C (n.1111+4859A>C)
c.972A>C (p.Thr324=)
c.1224A>C (p.Thr408=)
c.1116A>C (p.Thr372=)
c.1044A>C (p.Thr348=)
c.1200A>C (p.Thr400=)
c.885A>C (p.Thr295=)
6g.73610457G>ACA364721023SLC17A5c.1202C>T (p.Thr401Ile)
c.1151C>T (p.Thr384Ile)
c.1004C>T (p.Thr335Ile)
c.1111+4858C>T (n.1111+4858C>T)
c.971C>T (p.Thr324Ile)
c.1223C>T (p.Thr408Ile)
c.1115C>T (p.Thr372Ile)
c.1043C>T (p.Thr348Ile)
c.1199C>T (p.Thr400Ile)
c.884C>T (p.Thr295Ile)
 ClinVar
6g.73610457G>CCA364721022SLC17A5c.1202C>G (p.Thr401Arg)
c.1151C>G (p.Thr384Arg)
c.1004C>G (p.Thr335Arg)
c.1111+4858C>G (n.1111+4858C>G)
c.971C>G (p.Thr324Arg)
c.1223C>G (p.Thr408Arg)
c.1115C>G (p.Thr372Arg)
c.1043C>G (p.Thr348Arg)
c.1199C>G (p.Thr400Arg)
c.884C>G (p.Thr295Arg)
6g.73610457G>TCA364721021SLC17A5c.1202C>A (p.Thr401Lys)
c.1151C>A (p.Thr384Lys)
c.1004C>A (p.Thr335Lys)
c.1111+4858C>A (n.1111+4858C>A)
c.971C>A (p.Thr324Lys)
c.1223C>A (p.Thr408Lys)
c.1115C>A (p.Thr372Lys)
c.1043C>A (p.Thr348Lys)
c.1199C>A (p.Thr400Lys)
c.884C>A (p.Thr295Lys)
6g.73610458T>ACA364721024SLC17A5c.1201A>T (p.Thr401Ser)
c.1150A>T (p.Thr384Ser)
c.1003A>T (p.Thr335Ser)
c.1111+4857A>T (n.1111+4857A>T)
c.970A>T (p.Thr324Ser)
c.1222A>T (p.Thr408Ser)
c.1114A>T (p.Thr372Ser)
c.1042A>T (p.Thr348Ser)
c.1198A>T (p.Thr400Ser)
c.883A>T (p.Thr295Ser)
6g.73610458T>CCA364721025SLC17A5c.1201A>G (p.Thr401Ala)
c.1150A>G (p.Thr384Ala)
c.1003A>G (p.Thr335Ala)
c.1111+4857A>G (n.1111+4857A>G)
c.970A>G (p.Thr324Ala)
c.1222A>G (p.Thr408Ala)
c.1114A>G (p.Thr372Ala)
c.1042A>G (p.Thr348Ala)
c.1198A>G (p.Thr400Ala)
c.883A>G (p.Thr295Ala)
 ClinVar
6g.73610458T>GCA364721026SLC17A5c.1201A>C (p.Thr401Pro)
c.1150A>C (p.Thr384Pro)
c.1003A>C (p.Thr335Pro)
c.1111+4857A>C (n.1111+4857A>C)
c.970A>C (p.Thr324Pro)
c.1222A>C (p.Thr408Pro)
c.1114A>C (p.Thr372Pro)
c.1042A>C (p.Thr348Pro)
c.1198A>C (p.Thr400Pro)
c.883A>C (p.Thr295Pro)
6g.73610459T>ACA450914613SLC17A5c.1200A>T (p.Thr400=)
c.1149A>T (p.Thr383=)
c.1002A>T (p.Thr334=)
c.1111+4856A>T (n.1111+4856A>T)
c.969A>T (p.Thr323=)
c.1221A>T (p.Thr407=)
c.1113A>T (p.Thr371=)
c.1041A>T (p.Thr347=)
c.1197A>T (p.Thr399=)
c.882A>T (p.Thr294=)
6g.73610459T>CCA450914615SLC17A5c.1200A>G (p.Thr400=)
c.1149A>G (p.Thr383=)
c.1002A>G (p.Thr334=)
c.1111+4856A>G (n.1111+4856A>G)
c.969A>G (p.Thr323=)
c.1221A>G (p.Thr407=)
c.1113A>G (p.Thr371=)
c.1041A>G (p.Thr347=)
c.1197A>G (p.Thr399=)
c.882A>G (p.Thr294=)
6g.73610459T>GCA450914612SLC17A5c.1200A>C (p.Thr400=)
c.1149A>C (p.Thr383=)
c.1002A>C (p.Thr334=)
c.1111+4856A>C (n.1111+4856A>C)
c.969A>C (p.Thr323=)
c.1221A>C (p.Thr407=)
c.1113A>C (p.Thr371=)
c.1041A>C (p.Thr347=)
c.1197A>C (p.Thr399=)
c.882A>C (p.Thr294=)
6g.73610460G>ACA364721027SLC17A5c.1199C>T (p.Thr400Ile)
c.1148C>T (p.Thr383Ile)
c.1001C>T (p.Thr334Ile)
c.1111+4855C>T (n.1111+4855C>T)
c.968C>T (p.Thr323Ile)
c.1220C>T (p.Thr407Ile)
c.1112C>T (p.Thr371Ile)
c.1040C>T (p.Thr347Ile)
c.1196C>T (p.Thr399Ile)
c.881C>T (p.Thr294Ile)
 gnomAD v4
6g.73610460G>CCA364721028SLC17A5c.1199C>G (p.Thr400Arg)
c.1148C>G (p.Thr383Arg)
c.1001C>G (p.Thr334Arg)
c.1111+4855C>G (n.1111+4855C>G)
c.968C>G (p.Thr323Arg)
c.1220C>G (p.Thr407Arg)
c.1112C>G (p.Thr371Arg)
c.1040C>G (p.Thr347Arg)
c.1196C>G (p.Thr399Arg)
c.881C>G (p.Thr294Arg)
6g.73610460G>TCA364721029SLC17A5c.1199C>A (p.Thr400Lys)
c.1148C>A (p.Thr383Lys)
c.1001C>A (p.Thr334Lys)
c.1111+4855C>A (n.1111+4855C>A)
c.968C>A (p.Thr323Lys)
c.1220C>A (p.Thr407Lys)
c.1112C>A (p.Thr371Lys)
c.1040C>A (p.Thr347Lys)
c.1196C>A (p.Thr399Lys)
c.881C>A (p.Thr294Lys)
6g.73610461T>ACA364721030SLC17A5c.1198A>T (p.Thr400Ser)
c.1147A>T (p.Thr383Ser)
c.1000A>T (p.Thr334Ser)
c.1111+4854A>T (n.1111+4854A>T)
c.967A>T (p.Thr323Ser)
c.1219A>T (p.Thr407Ser)
c.1111A>T (p.Thr371Ser)
c.1039A>T (p.Thr347Ser)
c.1195A>T (p.Thr399Ser)
c.880A>T (p.Thr294Ser)
6g.73610461T>CCA364721032SLC17A5c.1198A>G (p.Thr400Ala)
c.1147A>G (p.Thr383Ala)
c.1000A>G (p.Thr334Ala)
c.1111+4854A>G (n.1111+4854A>G)
c.967A>G (p.Thr323Ala)
c.1219A>G (p.Thr407Ala)
c.1111A>G (p.Thr371Ala)
c.1039A>G (p.Thr347Ala)
c.1195A>G (p.Thr399Ala)
c.880A>G (p.Thr294Ala)
6g.73610461T>GCA364721031SLC17A5c.1198A>C (p.Thr400Pro)
c.1147A>C (p.Thr383Pro)
c.1000A>C (p.Thr334Pro)
c.1111+4854A>C (n.1111+4854A>C)
c.967A>C (p.Thr323Pro)
c.1219A>C (p.Thr407Pro)
c.1111A>C (p.Thr371Pro)
c.1039A>C (p.Thr347Pro)
c.1195A>C (p.Thr399Pro)
c.880A>C (p.Thr294Pro)
6g.73610462T>ACA450914624SLC17A5c.1197A>T (p.Ser399=)
c.1146A>T (p.Ser382=)
c.999A>T (p.Ser333=)
c.1111+4853A>T (n.1111+4853A>T)
c.966A>T (p.Ser322=)
c.1218A>T (p.Ser406=)
c.1110A>T (p.Ser370=)
c.1038A>T (p.Ser346=)
c.1194A>T (p.Ser398=)
c.879A>T (p.Ser293=)
6g.73610462T>CCA450914620SLC17A5c.1197A>G (p.Ser399=)
c.1146A>G (p.Ser382=)
c.999A>G (p.Ser333=)
c.1111+4853A>G (n.1111+4853A>G)
c.966A>G (p.Ser322=)
c.1218A>G (p.Ser406=)
c.1110A>G (p.Ser370=)
c.1038A>G (p.Ser346=)
c.1194A>G (p.Ser398=)
c.879A>G (p.Ser293=)
6g.73610462T>GCA450914622SLC17A5c.1197A>C (p.Ser399=)
c.1146A>C (p.Ser382=)
c.999A>C (p.Ser333=)
c.1111+4853A>C (n.1111+4853A>C)
c.966A>C (p.Ser322=)
c.1218A>C (p.Ser406=)
c.1110A>C (p.Ser370=)
c.1038A>C (p.Ser346=)
c.1194A>C (p.Ser398=)
c.879A>C (p.Ser293=)
 ClinVar
6g.73610463G>ACA364721033SLC17A5c.1196C>T (p.Ser399Leu)
c.1145C>T (p.Ser382Leu)
c.998C>T (p.Ser333Leu)
c.1111+4852C>T (n.1111+4852C>T)
c.965C>T (p.Ser322Leu)
c.1217C>T (p.Ser406Leu)
c.1109C>T (p.Ser370Leu)
c.1037C>T (p.Ser346Leu)
c.1193C>T (p.Ser398Leu)
c.878C>T (p.Ser293Leu)
 gnomAD v4
6g.73610463G>CCA364721034SLC17A5c.1196C>G (p.Ser399Ter)
c.1145C>G (p.Ser382Ter)
c.998C>G (p.Ser333Ter)
c.1111+4852C>G (n.1111+4852C>G)
c.965C>G (p.Ser322Ter)
c.1217C>G (p.Ser406Ter)
c.1109C>G (p.Ser370Ter)
c.1037C>G (p.Ser346Ter)
c.1193C>G (p.Ser398Ter)
c.878C>G (p.Ser293Ter)
6g.73610463G>TCA364721035SLC17A5c.1196C>A (p.Ser399Ter)
c.1145C>A (p.Ser382Ter)
c.998C>A (p.Ser333Ter)
c.1111+4852C>A (n.1111+4852C>A)
c.965C>A (p.Ser322Ter)
c.1217C>A (p.Ser406Ter)
c.1109C>A (p.Ser370Ter)
c.1037C>A (p.Ser346Ter)
c.1193C>A (p.Ser398Ter)
c.878C>A (p.Ser293Ter)
6g.73610464A>CCA364721036SLC17A5c.1195T>G (p.Ser399Ala)
c.1144T>G (p.Ser382Ala)
c.997T>G (p.Ser333Ala)
c.1111+4851T>G (n.1111+4851T>G)
c.964T>G (p.Ser322Ala)
c.1216T>G (p.Ser406Ala)
c.1108T>G (p.Ser370Ala)
c.1036T>G (p.Ser346Ala)
c.1192T>G (p.Ser398Ala)
c.877T>G (p.Ser293Ala)
6g.73610464A>GCA364721037SLC17A5c.1195T>C (p.Ser399Pro)
c.1144T>C (p.Ser382Pro)
c.997T>C (p.Ser333Pro)
c.1111+4851T>C (n.1111+4851T>C)
c.964T>C (p.Ser322Pro)
c.1216T>C (p.Ser406Pro)
c.1108T>C (p.Ser370Pro)
c.1036T>C (p.Ser346Pro)
c.1192T>C (p.Ser398Pro)
c.877T>C (p.Ser293Pro)
6g.73610464A>TCA364721038SLC17A5c.1195T>A (p.Ser399Thr)
c.1144T>A (p.Ser382Thr)
c.997T>A (p.Ser333Thr)
c.1111+4851T>A (n.1111+4851T>A)
c.964T>A (p.Ser322Thr)
c.1216T>A (p.Ser406Thr)
c.1108T>A (p.Ser370Thr)
c.1036T>A (p.Ser346Thr)
c.1192T>A (p.Ser398Thr)
c.877T>A (p.Ser293Thr)
6g.73610465T>ACA450914630SLC17A5c.1194A>T (p.Ile398=)
c.1143A>T (p.Ile381=)
c.996A>T (p.Ile332=)
c.1111+4850A>T (n.1111+4850A>T)
c.963A>T (p.Ile321=)
c.1215A>T (p.Ile405=)
c.1107A>T (p.Ile369=)
c.1035A>T (p.Ile345=)
c.1191A>T (p.Ile397=)
c.876A>T (p.Ile292=)
6g.73610465T>CCA364721039SLC17A5c.1194A>G (p.Ile398Met)
c.1143A>G (p.Ile381Met)
c.996A>G (p.Ile332Met)
c.1111+4850A>G (n.1111+4850A>G)
c.963A>G (p.Ile321Met)
c.1215A>G (p.Ile405Met)
c.1107A>G (p.Ile369Met)
c.1035A>G (p.Ile345Met)
c.1191A>G (p.Ile397Met)
c.876A>G (p.Ile292Met)
 dbSNP gnomAD v3 gnomAD v4
6g.73610465T>GCA450914632SLC17A5c.1194A>C (p.Ile398=)
c.1143A>C (p.Ile381=)
c.996A>C (p.Ile332=)
c.1111+4850A>C (n.1111+4850A>C)
c.963A>C (p.Ile321=)
c.1215A>C (p.Ile405=)
c.1107A>C (p.Ile369=)
c.1035A>C (p.Ile345=)
c.1191A>C (p.Ile397=)
c.876A>C (p.Ile292=)
6g.73610466A>CCA364721040SLC17A5c.1193T>G (p.Ile398Arg)
c.1142T>G (p.Ile381Arg)
c.995T>G (p.Ile332Arg)
c.1111+4849T>G (n.1111+4849T>G)
c.962T>G (p.Ile321Arg)
c.1214T>G (p.Ile405Arg)
c.1106T>G (p.Ile369Arg)
c.1034T>G (p.Ile345Arg)
c.1190T>G (p.Ile397Arg)
c.875T>G (p.Ile292Arg)
6g.73610466A>GCA364721041SLC17A5c.1193T>C (p.Ile398Thr)
c.1142T>C (p.Ile381Thr)
c.995T>C (p.Ile332Thr)
c.1111+4849T>C (n.1111+4849T>C)
c.962T>C (p.Ile321Thr)
c.1214T>C (p.Ile405Thr)
c.1106T>C (p.Ile369Thr)
c.1034T>C (p.Ile345Thr)
c.1190T>C (p.Ile397Thr)
c.875T>C (p.Ile292Thr)
6g.73610466A>TCA364721042SLC17A5c.1193T>A (p.Ile398Lys)
c.1142T>A (p.Ile381Lys)
c.995T>A (p.Ile332Lys)
c.1111+4849T>A (n.1111+4849T>A)
c.962T>A (p.Ile321Lys)
c.1214T>A (p.Ile405Lys)
c.1106T>A (p.Ile369Lys)
c.1034T>A (p.Ile345Lys)
c.1190T>A (p.Ile397Lys)
c.875T>A (p.Ile292Lys)
6g.73610467T>ACA364721043SLC17A5c.1192A>T (p.Ile398Leu)
c.1141A>T (p.Ile381Leu)
c.994A>T (p.Ile332Leu)
c.1111+4848A>T (n.1111+4848A>T)
c.961A>T (p.Ile321Leu)
c.1213A>T (p.Ile405Leu)
c.1105A>T (p.Ile369Leu)
c.1033A>T (p.Ile345Leu)
c.1189A>T (p.Ile397Leu)
c.874A>T (p.Ile292Leu)
6g.73610467T>CCA3890324SLC17A5c.1192A>G (p.Ile398Val)
c.1141A>G (p.Ile381Val)
c.994A>G (p.Ile332Val)
c.1111+4848A>G (n.1111+4848A>G)
c.961A>G (p.Ile321Val)
c.1213A>G (p.Ile405Val)
c.1105A>G (p.Ile369Val)
c.1033A>G (p.Ile345Val)
c.1189A>G (p.Ile397Val)
c.874A>G (p.Ile292Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73610467T>GCA364721044SLC17A5c.1192A>C (p.Ile398Leu)
c.1141A>C (p.Ile381Leu)
c.994A>C (p.Ile332Leu)
c.1111+4848A>C (n.1111+4848A>C)
c.961A>C (p.Ile321Leu)
c.1213A>C (p.Ile405Leu)
c.1105A>C (p.Ile369Leu)
c.1033A>C (p.Ile345Leu)
c.1189A>C (p.Ile397Leu)
c.874A>C (p.Ile292Leu)
6g.73610467T=CA1638229756SLC17A5c.1192A= (p.Ile398=)
c.1141A= (p.Ile381=)
c.994A= (p.Ile332=)
c.1111+4848A= (n.1111+4848A=)
c.961A= (p.Ile321=)
c.1213A= (p.Ile405=)
c.1105A= (p.Ile369=)
c.1033A= (p.Ile345=)
c.1189A= (p.Ile397=)
c.874A= (p.Ile292=)
6g.73610468A=CA1638229757SLC17A5c.1191T= (p.Thr397=)
c.1140T= (p.Thr380=)
c.993T= (p.Thr331=)
c.1111+4847T= (n.1111+4847T=)
c.960T= (p.Thr320=)
c.1212T= (p.Thr404=)
c.1104T= (p.Thr368=)
c.1032T= (p.Thr344=)
c.1188T= (p.Thr396=)
c.873T= (p.Thr291=)
6g.73610468A>CCA450914642SLC17A5c.1191T>G (p.Thr397=)
c.1140T>G (p.Thr380=)
c.993T>G (p.Thr331=)
c.1111+4847T>G (n.1111+4847T>G)
c.960T>G (p.Thr320=)
c.1212T>G (p.Thr404=)
c.1104T>G (p.Thr368=)
c.1032T>G (p.Thr344=)
c.1188T>G (p.Thr396=)
c.873T>G (p.Thr291=)
6g.73610468A>GCA450914643SLC17A5c.1191T>C (p.Thr397=)
c.1140T>C (p.Thr380=)
c.993T>C (p.Thr331=)
c.1111+4847T>C (n.1111+4847T>C)
c.960T>C (p.Thr320=)
c.1212T>C (p.Thr404=)
c.1104T>C (p.Thr368=)
c.1032T>C (p.Thr344=)
c.1188T>C (p.Thr396=)
c.873T>C (p.Thr291=)
6g.73610468A>TCA450914644SLC17A5c.1191T>A (p.Thr397=)
c.1140T>A (p.Thr380=)
c.993T>A (p.Thr331=)
c.1111+4847T>A (n.1111+4847T>A)
c.960T>A (p.Thr320=)
c.1212T>A (p.Thr404=)
c.1104T>A (p.Thr368=)
c.1032T>A (p.Thr344=)
c.1188T>A (p.Thr396=)
c.873T>A (p.Thr291=)
 dbSNP gnomAD v2 gnomAD v4
6g.73610469G>ACA364721045SLC17A5c.1190C>T (p.Thr397Ile)
c.1139C>T (p.Thr380Ile)
c.992C>T (p.Thr331Ile)
c.1111+4846C>T (n.1111+4846C>T)
c.959C>T (p.Thr320Ile)
c.1211C>T (p.Thr404Ile)
c.1103C>T (p.Thr368Ile)
c.1031C>T (p.Thr344Ile)
c.1187C>T (p.Thr396Ile)
c.872C>T (p.Thr291Ile)
6g.73610469G>CCA364721046SLC17A5c.1190C>G (p.Thr397Ser)
c.1139C>G (p.Thr380Ser)
c.992C>G (p.Thr331Ser)
c.1111+4846C>G (n.1111+4846C>G)
c.959C>G (p.Thr320Ser)
c.1211C>G (p.Thr404Ser)
c.1103C>G (p.Thr368Ser)
c.1031C>G (p.Thr344Ser)
c.1187C>G (p.Thr396Ser)
c.872C>G (p.Thr291Ser)
6g.73610469G>TCA364721047SLC17A5c.1190C>A (p.Thr397Asn)
c.1139C>A (p.Thr380Asn)
c.992C>A (p.Thr331Asn)
c.1111+4846C>A (n.1111+4846C>A)
c.959C>A (p.Thr320Asn)
c.1211C>A (p.Thr404Asn)
c.1103C>A (p.Thr368Asn)
c.1031C>A (p.Thr344Asn)
c.1187C>A (p.Thr396Asn)
c.872C>A (p.Thr291Asn)
6g.73610470T>ACA364721048SLC17A5c.1189A>T (p.Thr397Ser)
c.1138A>T (p.Thr380Ser)
c.991A>T (p.Thr331Ser)
c.1111+4845A>T (n.1111+4845A>T)
c.958A>T (p.Thr320Ser)
c.1210A>T (p.Thr404Ser)
c.1102A>T (p.Thr368Ser)
c.1030A>T (p.Thr344Ser)
c.1186A>T (p.Thr396Ser)
c.871A>T (p.Thr291Ser)
6g.73610470T>CCA364721049SLC17A5c.1189A>G (p.Thr397Ala)
c.1138A>G (p.Thr380Ala)
c.991A>G (p.Thr331Ala)
c.1111+4845A>G (n.1111+4845A>G)
c.958A>G (p.Thr320Ala)
c.1210A>G (p.Thr404Ala)
c.1102A>G (p.Thr368Ala)
c.1030A>G (p.Thr344Ala)
c.1186A>G (p.Thr396Ala)
c.871A>G (p.Thr291Ala)
6g.73610470T>GCA364721050SLC17A5c.1189A>C (p.Thr397Pro)
c.1138A>C (p.Thr380Pro)
c.991A>C (p.Thr331Pro)
c.1111+4845A>C (n.1111+4845A>C)
c.958A>C (p.Thr320Pro)
c.1210A>C (p.Thr404Pro)
c.1102A>C (p.Thr368Pro)
c.1030A>C (p.Thr344Pro)
c.1186A>C (p.Thr396Pro)
c.871A>C (p.Thr291Pro)
6g.73610471T>ACA450914649SLC17A5c.1188A>T (p.Leu396=)
c.1137A>T (p.Leu379=)
c.990A>T (p.Leu330=)
c.1111+4844A>T (n.1111+4844A>T)
c.957A>T (p.Leu319=)
c.1209A>T (p.Leu403=)
c.1101A>T (p.Leu367=)
c.1029A>T (p.Leu343=)
c.1185A>T (p.Leu395=)
c.870A>T (p.Leu290=)
6g.73610471T>CCA450914652SLC17A5c.1188A>G (p.Leu396=)
c.1137A>G (p.Leu379=)
c.990A>G (p.Leu330=)
c.1111+4844A>G (n.1111+4844A>G)
c.957A>G (p.Leu319=)
c.1209A>G (p.Leu403=)
c.1101A>G (p.Leu367=)
c.1029A>G (p.Leu343=)
c.1185A>G (p.Leu395=)
c.870A>G (p.Leu290=)
6g.73610471T>GCA140979053SLC17A5c.1188A>C (p.Leu396=)
c.1137A>C (p.Leu379=)
c.990A>C (p.Leu330=)
c.1111+4844A>C (n.1111+4844A>C)
c.957A>C (p.Leu319=)
c.1209A>C (p.Leu403=)
c.1101A>C (p.Leu367=)
c.1029A>C (p.Leu343=)
c.1185A>C (p.Leu395=)
c.870A>C (p.Leu290=)
 dbSNP
6g.73610471T=CA1638229758SLC17A5c.1188A= (p.Leu396=)
c.1137A= (p.Leu379=)
c.990A= (p.Leu330=)
c.1111+4844A= (n.1111+4844A=)
c.957A= (p.Leu319=)
c.1209A= (p.Leu403=)
c.1101A= (p.Leu367=)
c.1029A= (p.Leu343=)
c.1185A= (p.Leu395=)
c.870A= (p.Leu290=)
6g.73610472A>CCA364721051SLC17A5c.1187T>G (p.Leu396Arg)
c.1136T>G (p.Leu379Arg)
c.989T>G (p.Leu330Arg)
c.1111+4843T>G (n.1111+4843T>G)
c.956T>G (p.Leu319Arg)
c.1208T>G (p.Leu403Arg)
c.1100T>G (p.Leu367Arg)
c.1028T>G (p.Leu343Arg)
c.1184T>G (p.Leu395Arg)
c.869T>G (p.Leu290Arg)
6g.73610472A>GCA364721052SLC17A5c.1187T>C (p.Leu396Pro)
c.1136T>C (p.Leu379Pro)
c.989T>C (p.Leu330Pro)
c.1111+4843T>C (n.1111+4843T>C)
c.956T>C (p.Leu319Pro)
c.1208T>C (p.Leu403Pro)
c.1100T>C (p.Leu367Pro)
c.1028T>C (p.Leu343Pro)
c.1184T>C (p.Leu395Pro)
c.869T>C (p.Leu290Pro)
6g.73610472A>TCA364721053SLC17A5c.1187T>A (p.Leu396Gln)
c.1136T>A (p.Leu379Gln)
c.989T>A (p.Leu330Gln)
c.1111+4843T>A (n.1111+4843T>A)
c.956T>A (p.Leu319Gln)
c.1208T>A (p.Leu403Gln)
c.1100T>A (p.Leu367Gln)
c.1028T>A (p.Leu343Gln)
c.1184T>A (p.Leu395Gln)
c.869T>A (p.Leu290Gln)
6g.73610473G>ACA450914661SLC17A5c.1186C>T (p.Leu396=)
c.1135C>T (p.Leu379=)
c.988C>T (p.Leu330=)
c.1111+4842C>T (n.1111+4842C>T)
c.955C>T (p.Leu319=)
c.1207C>T (p.Leu403=)
c.1099C>T (p.Leu367=)
c.1027C>T (p.Leu343=)
c.1183C>T (p.Leu395=)
c.868C>T (p.Leu290=)
6g.73610473G>CCA364721054SLC17A5c.1186C>G (p.Leu396Val)
c.1135C>G (p.Leu379Val)
c.988C>G (p.Leu330Val)
c.1111+4842C>G (n.1111+4842C>G)
c.955C>G (p.Leu319Val)
c.1207C>G (p.Leu403Val)
c.1099C>G (p.Leu367Val)
c.1027C>G (p.Leu343Val)
c.1183C>G (p.Leu395Val)
c.868C>G (p.Leu290Val)
6g.73610473G>TCA364721055SLC17A5c.1186C>A (p.Leu396Ile)
c.1135C>A (p.Leu379Ile)
c.988C>A (p.Leu330Ile)
c.1111+4842C>A (n.1111+4842C>A)
c.955C>A (p.Leu319Ile)
c.1207C>A (p.Leu403Ile)
c.1099C>A (p.Leu367Ile)
c.1027C>A (p.Leu343Ile)
c.1183C>A (p.Leu395Ile)
c.868C>A (p.Leu290Ile)
6g.73610474G>ACA450914664SLC17A5c.1185C>T (p.Phe395=)
c.1134C>T (p.Phe378=)
c.987C>T (p.Phe329=)
c.1111+4841C>T (n.1111+4841C>T)
c.954C>T (p.Phe318=)
c.1206C>T (p.Phe402=)
c.1098C>T (p.Phe366=)
c.1026C>T (p.Phe342=)
c.1182C>T (p.Phe394=)
c.867C>T (p.Phe289=)
6g.73610474G>CCA364721057SLC17A5c.1185C>G (p.Phe395Leu)
c.1134C>G (p.Phe378Leu)
c.987C>G (p.Phe329Leu)
c.1111+4841C>G (n.1111+4841C>G)
c.954C>G (p.Phe318Leu)
c.1206C>G (p.Phe402Leu)
c.1098C>G (p.Phe366Leu)
c.1026C>G (p.Phe342Leu)
c.1182C>G (p.Phe394Leu)
c.867C>G (p.Phe289Leu)
6g.73610474G>TCA364721056SLC17A5c.1185C>A (p.Phe395Leu)
c.1134C>A (p.Phe378Leu)
c.987C>A (p.Phe329Leu)
c.1111+4841C>A (n.1111+4841C>A)
c.954C>A (p.Phe318Leu)
c.1206C>A (p.Phe402Leu)
c.1098C>A (p.Phe366Leu)
c.1026C>A (p.Phe342Leu)
c.1182C>A (p.Phe394Leu)
c.867C>A (p.Phe289Leu)
6g.73610475A>CCA364721058SLC17A5c.1184T>G (p.Phe395Cys)
c.1133T>G (p.Phe378Cys)
c.986T>G (p.Phe329Cys)
c.1111+4840T>G (n.1111+4840T>G)
c.953T>G (p.Phe318Cys)
c.1205T>G (p.Phe402Cys)
c.1097T>G (p.Phe366Cys)
c.1025T>G (p.Phe342Cys)
c.1181T>G (p.Phe394Cys)
c.866T>G (p.Phe289Cys)
6g.73610475A>GCA364721059SLC17A5c.1184T>C (p.Phe395Ser)
c.1133T>C (p.Phe378Ser)
c.986T>C (p.Phe329Ser)
c.1111+4840T>C (n.1111+4840T>C)
c.953T>C (p.Phe318Ser)
c.1205T>C (p.Phe402Ser)
c.1097T>C (p.Phe366Ser)
c.1025T>C (p.Phe342Ser)
c.1181T>C (p.Phe394Ser)
c.866T>C (p.Phe289Ser)
6g.73610475A>TCA364721060SLC17A5c.1184T>A (p.Phe395Tyr)
c.1133T>A (p.Phe378Tyr)
c.986T>A (p.Phe329Tyr)
c.1111+4840T>A (n.1111+4840T>A)
c.953T>A (p.Phe318Tyr)
c.1205T>A (p.Phe402Tyr)
c.1097T>A (p.Phe366Tyr)
c.1025T>A (p.Phe342Tyr)
c.1181T>A (p.Phe394Tyr)
c.866T>A (p.Phe289Tyr)
6g.73610476A>CCA364721061SLC17A5c.1183T>G (p.Phe395Val)
c.1132T>G (p.Phe378Val)
c.985T>G (p.Phe329Val)
c.1111+4839T>G (n.1111+4839T>G)
c.952T>G (p.Phe318Val)
c.1204T>G (p.Phe402Val)
c.1096T>G (p.Phe366Val)
c.1024T>G (p.Phe342Val)
c.1180T>G (p.Phe394Val)
c.865T>G (p.Phe289Val)
6g.73610476A>GCA364721062SLC17A5c.1183T>C (p.Phe395Leu)
c.1132T>C (p.Phe378Leu)
c.985T>C (p.Phe329Leu)
c.1111+4839T>C (n.1111+4839T>C)
c.952T>C (p.Phe318Leu)
c.1204T>C (p.Phe402Leu)
c.1096T>C (p.Phe366Leu)
c.1024T>C (p.Phe342Leu)
c.1180T>C (p.Phe394Leu)
c.865T>C (p.Phe289Leu)
6g.73610476A>TCA364721063SLC17A5c.1183T>A (p.Phe395Ile)
c.1132T>A (p.Phe378Ile)
c.985T>A (p.Phe329Ile)
c.1111+4839T>A (n.1111+4839T>A)
c.952T>A (p.Phe318Ile)
c.1204T>A (p.Phe402Ile)
c.1096T>A (p.Phe366Ile)
c.1024T>A (p.Phe342Ile)
c.1180T>A (p.Phe394Ile)
c.865T>A (p.Phe289Ile)
6g.73610477A>CCA450914675SLC17A5c.1182T>G (p.Ala394=)
c.1131T>G (p.Ala377=)
c.984T>G (p.Ala328=)
c.1111+4838T>G (n.1111+4838T>G)
c.951T>G (p.Ala317=)
c.1203T>G (p.Ala401=)
c.1095T>G (p.Ala365=)
c.1023T>G (p.Ala341=)
c.1179T>G (p.Ala393=)
c.864T>G (p.Ala288=)
6g.73610477A>GCA450914676SLC17A5c.1182T>C (p.Ala394=)
c.1131T>C (p.Ala377=)
c.984T>C (p.Ala328=)
c.1111+4838T>C (n.1111+4838T>C)
c.951T>C (p.Ala317=)
c.1203T>C (p.Ala401=)
c.1095T>C (p.Ala365=)
c.1023T>C (p.Ala341=)
c.1179T>C (p.Ala393=)
c.864T>C (p.Ala288=)
 ClinVar
6g.73610477A>TCA450914677SLC17A5c.1182T>A (p.Ala394=)
c.1131T>A (p.Ala377=)
c.984T>A (p.Ala328=)
c.1111+4838T>A (n.1111+4838T>A)
c.951T>A (p.Ala317=)
c.1203T>A (p.Ala401=)
c.1095T>A (p.Ala365=)
c.1023T>A (p.Ala341=)
c.1179T>A (p.Ala393=)
c.864T>A (p.Ala288=)
6g.73610478G>ACA364721064SLC17A5c.1181C>T (p.Ala394Val)
c.1130C>T (p.Ala377Val)
c.983C>T (p.Ala328Val)
c.1111+4837C>T (n.1111+4837C>T)
c.950C>T (p.Ala317Val)
c.1202C>T (p.Ala401Val)
c.1094C>T (p.Ala365Val)
c.1022C>T (p.Ala341Val)
c.1178C>T (p.Ala393Val)
c.863C>T (p.Ala288Val)
6g.73610478G>CCA364721065SLC17A5c.1181C>G (p.Ala394Gly)
c.1130C>G (p.Ala377Gly)
c.983C>G (p.Ala328Gly)
c.1111+4837C>G (n.1111+4837C>G)
c.950C>G (p.Ala317Gly)
c.1202C>G (p.Ala401Gly)
c.1094C>G (p.Ala365Gly)
c.1022C>G (p.Ala341Gly)
c.1178C>G (p.Ala393Gly)
c.863C>G (p.Ala288Gly)
6g.73610478G=CA1638229759SLC17A5c.1181C= (p.Ala394=)
c.1130C= (p.Ala377=)
c.983C= (p.Ala328=)
c.1111+4837C= (n.1111+4837C=)
c.950C= (p.Ala317=)
c.1202C= (p.Ala401=)
c.1094C= (p.Ala365=)
c.1022C= (p.Ala341=)
c.1178C= (p.Ala393=)
c.863C= (p.Ala288=)
6g.73610478G>TCA364721066SLC17A5c.1181C>A (p.Ala394Asp)
c.1130C>A (p.Ala377Asp)
c.983C>A (p.Ala328Asp)
c.1111+4837C>A (n.1111+4837C>A)
c.950C>A (p.Ala317Asp)
c.1202C>A (p.Ala401Asp)
c.1094C>A (p.Ala365Asp)
c.1022C>A (p.Ala341Asp)
c.1178C>A (p.Ala393Asp)
c.863C>A (p.Ala288Asp)
 dbSNP gnomAD v4
6g.73610479C>ACA364721067SLC17A5c.1180G>T (p.Ala394Ser)
c.1129G>T (p.Ala377Ser)
c.982G>T (p.Ala328Ser)
c.1111+4836G>T (n.1111+4836G>T)
c.949G>T (p.Ala317Ser)
c.1201G>T (p.Ala401Ser)
c.1093G>T (p.Ala365Ser)
c.1021G>T (p.Ala341Ser)
c.1177G>T (p.Ala393Ser)
c.862G>T (p.Ala288Ser)
6g.73610479C>GCA364721068SLC17A5c.1180G>C (p.Ala394Pro)
c.1129G>C (p.Ala377Pro)
c.982G>C (p.Ala328Pro)
c.1111+4836G>C (n.1111+4836G>C)
c.949G>C (p.Ala317Pro)
c.1201G>C (p.Ala401Pro)
c.1093G>C (p.Ala365Pro)
c.1021G>C (p.Ala341Pro)
c.1177G>C (p.Ala393Pro)
c.862G>C (p.Ala288Pro)
6g.73610479C>TCA364721069SLC17A5c.1180G>A (p.Ala394Thr)
c.1129G>A (p.Ala377Thr)
c.982G>A (p.Ala328Thr)
c.1111+4836G>A (n.1111+4836G>A)
c.949G>A (p.Ala317Thr)
c.1201G>A (p.Ala401Thr)
c.1093G>A (p.Ala365Thr)
c.1021G>A (p.Ala341Thr)
c.1177G>A (p.Ala393Thr)
c.862G>A (p.Ala288Thr)
6g.73610480A>CCA450914688SLC17A5c.1179T>G (p.Val393=)
c.1128T>G (p.Val376=)
c.981T>G (p.Val327=)
c.1111+4835T>G (n.1111+4835T>G)
c.948T>G (p.Val316=)
c.1200T>G (p.Val400=)
c.1092T>G (p.Val364=)
c.1020T>G (p.Val340=)
c.1176T>G (p.Val392=)
c.861T>G (p.Val287=)
6g.73610480A>GCA450914687SLC17A5c.1179T>C (p.Val393=)
c.1128T>C (p.Val376=)
c.981T>C (p.Val327=)
c.1111+4835T>C (n.1111+4835T>C)
c.948T>C (p.Val316=)
c.1200T>C (p.Val400=)
c.1092T>C (p.Val364=)
c.1020T>C (p.Val340=)
c.1176T>C (p.Val392=)
c.861T>C (p.Val287=)
6g.73610480A>TCA450914686SLC17A5c.1179T>A (p.Val393=)
c.1128T>A (p.Val376=)
c.981T>A (p.Val327=)
c.1111+4835T>A (n.1111+4835T>A)
c.948T>A (p.Val316=)
c.1200T>A (p.Val400=)
c.1092T>A (p.Val364=)
c.1020T>A (p.Val340=)
c.1176T>A (p.Val392=)
c.861T>A (p.Val287=)
6g.73610481dupCA2679403540SLC17A5c.1179dup (p.Ala394CysfsTer18)
c.1128dup (p.Ala377CysfsTer18)
c.981dup (p.Ala328CysfsTer18)
c.1111+4835dup (n.1111+4835dup)
c.948dup (p.Ala317CysfsTer18)
c.1200dup (p.Ala401CysfsTer18)
c.1092dup (p.Ala365CysfsTer18)
c.1020dup (p.Ala341CysfsTer18)
c.1176dup (p.Ala393CysfsTer18)
c.861dup (p.Ala288CysfsTer18)
 gnomAD v4
6g.73610481A>CCA364721071SLC17A5c.1178T>G (p.Val393Gly)
c.1127T>G (p.Val376Gly)
c.980T>G (p.Val327Gly)
c.1111+4834T>G (n.1111+4834T>G)
c.947T>G (p.Val316Gly)
c.1199T>G (p.Val400Gly)
c.1091T>G (p.Val364Gly)
c.1019T>G (p.Val340Gly)
c.1175T>G (p.Val392Gly)
c.860T>G (p.Val287Gly)
6g.73610481A>GCA364721072SLC17A5c.1178T>C (p.Val393Ala)
c.1127T>C (p.Val376Ala)
c.980T>C (p.Val327Ala)
c.1111+4834T>C (n.1111+4834T>C)
c.947T>C (p.Val316Ala)
c.1199T>C (p.Val400Ala)
c.1091T>C (p.Val364Ala)
c.1019T>C (p.Val340Ala)
c.1175T>C (p.Val392Ala)
c.860T>C (p.Val287Ala)
6g.73610481A>TCA364721070SLC17A5c.1178T>A (p.Val393Asp)
c.1127T>A (p.Val376Asp)
c.980T>A (p.Val327Asp)
c.1111+4834T>A (n.1111+4834T>A)
c.947T>A (p.Val316Asp)
c.1199T>A (p.Val400Asp)
c.1091T>A (p.Val364Asp)
c.1019T>A (p.Val340Asp)
c.1175T>A (p.Val392Asp)
c.860T>A (p.Val287Asp)
6g.73610482C>ACA364721073SLC17A5c.1177G>T (p.Val393Phe)
c.1126G>T (p.Val376Phe)
c.979G>T (p.Val327Phe)
c.1111+4833G>T (n.1111+4833G>T)
c.946G>T (p.Val316Phe)
c.1198G>T (p.Val400Phe)
c.1090G>T (p.Val364Phe)
c.1018G>T (p.Val340Phe)
c.1174G>T (p.Val392Phe)
c.859G>T (p.Val287Phe)
6g.73610482C=CA1638229760SLC17A5c.1177G= (p.Val393=)
c.1126G= (p.Val376=)
c.979G= (p.Val327=)
c.1111+4833G= (n.1111+4833G=)
c.946G= (p.Val316=)
c.1198G= (p.Val400=)
c.1090G= (p.Val364=)
c.1018G= (p.Val340=)
c.1174G= (p.Val392=)
c.859G= (p.Val287=)
6g.73610482C>GCA364721074SLC17A5c.1177G>C (p.Val393Leu)
c.1126G>C (p.Val376Leu)
c.979G>C (p.Val327Leu)
c.1111+4833G>C (n.1111+4833G>C)
c.946G>C (p.Val316Leu)
c.1198G>C (p.Val400Leu)
c.1090G>C (p.Val364Leu)
c.1018G>C (p.Val340Leu)
c.1174G>C (p.Val392Leu)
c.859G>C (p.Val287Leu)
6g.73610482C>TCA3890325SLC17A5c.1177G>A (p.Val393Ile)
c.1126G>A (p.Val376Ile)
c.979G>A (p.Val327Ile)
c.1111+4833G>A (n.1111+4833G>A)
c.946G>A (p.Val316Ile)
c.1198G>A (p.Val400Ile)
c.1090G>A (p.Val364Ile)
c.1018G>A (p.Val340Ile)
c.1174G>A (p.Val392Ile)
c.859G>A (p.Val287Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73610483G>ACA3890327SLC17A5c.1176C>T (p.Ala392=)
c.1125C>T (p.Ala375=)
c.978C>T (p.Ala326=)
c.1111+4832C>T (n.1111+4832C>T)
c.945C>T (p.Ala315=)
c.1197C>T (p.Ala399=)
c.1089C>T (p.Ala363=)
c.1017C>T (p.Ala339=)
c.1173C>T (p.Ala391=)
c.858C>T (p.Ala286=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73610483G>CCA3890326SLC17A5c.1176C>G (p.Ala392=)
c.1125C>G (p.Ala375=)
c.978C>G (p.Ala326=)
c.1111+4832C>G (n.1111+4832C>G)
c.945C>G (p.Ala315=)
c.1197C>G (p.Ala399=)
c.1089C>G (p.Ala363=)
c.1017C>G (p.Ala339=)
c.1173C>G (p.Ala391=)
c.858C>G (p.Ala286=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73610483G=CA1638229761SLC17A5c.1176C= (p.Ala392=)
c.1125C= (p.Ala375=)
c.978C= (p.Ala326=)
c.1111+4832C= (n.1111+4832C=)
c.945C= (p.Ala315=)
c.1197C= (p.Ala399=)
c.1089C= (p.Ala363=)
c.1017C= (p.Ala339=)
c.1173C= (p.Ala391=)
c.858C= (p.Ala286=)
6g.73610483G>TCA450914696SLC17A5c.1176C>A (p.Ala392=)
c.1125C>A (p.Ala375=)
c.978C>A (p.Ala326=)
c.1111+4832C>A (n.1111+4832C>A)
c.945C>A (p.Ala315=)
c.1197C>A (p.Ala399=)
c.1089C>A (p.Ala363=)
c.1017C>A (p.Ala339=)
c.1173C>A (p.Ala391=)
c.858C>A (p.Ala286=)
 ClinVar
6g.73610484G>ACA364721077SLC17A5c.1175C>T (p.Ala392Val)
c.1124C>T (p.Ala375Val)
c.977C>T (p.Ala326Val)
c.1111+4831C>T (n.1111+4831C>T)
c.944C>T (p.Ala315Val)
c.1196C>T (p.Ala399Val)
c.1088C>T (p.Ala363Val)
c.1016C>T (p.Ala339Val)
c.1172C>T (p.Ala391Val)
c.857C>T (p.Ala286Val)
 ClinVar dbSNP gnomAD v4
6g.73610484G>CCA364721075SLC17A5c.1175C>G (p.Ala392Gly)
c.1124C>G (p.Ala375Gly)
c.977C>G (p.Ala326Gly)
c.1111+4831C>G (n.1111+4831C>G)
c.944C>G (p.Ala315Gly)
c.1196C>G (p.Ala399Gly)
c.1088C>G (p.Ala363Gly)
c.1016C>G (p.Ala339Gly)
c.1172C>G (p.Ala391Gly)
c.857C>G (p.Ala286Gly)
6g.73610484G=CA1638229762SLC17A5c.1175C= (p.Ala392=)
c.1124C= (p.Ala375=)
c.977C= (p.Ala326=)
c.1111+4831C= (n.1111+4831C=)
c.944C= (p.Ala315=)
c.1196C= (p.Ala399=)
c.1088C= (p.Ala363=)
c.1016C= (p.Ala339=)
c.1172C= (p.Ala391=)
c.857C= (p.Ala286=)
6g.73610484G>TCA364721076SLC17A5c.1175C>A (p.Ala392Asp)
c.1124C>A (p.Ala375Asp)
c.977C>A (p.Ala326Asp)
c.1111+4831C>A (n.1111+4831C>A)
c.944C>A (p.Ala315Asp)
c.1196C>A (p.Ala399Asp)
c.1088C>A (p.Ala363Asp)
c.1016C>A (p.Ala339Asp)
c.1172C>A (p.Ala391Asp)
c.857C>A (p.Ala286Asp)
 gnomAD v4
6g.73610485C>ACA364721078SLC17A5c.1174G>T (p.Ala392Ser)
c.1123G>T (p.Ala375Ser)
c.976G>T (p.Ala326Ser)
c.1111+4830G>T (n.1111+4830G>T)
c.943G>T (p.Ala315Ser)
c.1195G>T (p.Ala399Ser)
c.1087G>T (p.Ala363Ser)
c.1015G>T (p.Ala339Ser)
c.1171G>T (p.Ala391Ser)
c.856G>T (p.Ala286Ser)
6g.73610485C=CA1638229763SLC17A5c.1174G= (p.Ala392=)
c.1123G= (p.Ala375=)
c.976G= (p.Ala326=)
c.1111+4830G= (n.1111+4830G=)
c.943G= (p.Ala315=)
c.1195G= (p.Ala399=)
c.1087G= (p.Ala363=)
c.1015G= (p.Ala339=)
c.1171G= (p.Ala391=)
c.856G= (p.Ala286=)
6g.73610485C>GCA364721079SLC17A5c.1174G>C (p.Ala392Pro)
c.1123G>C (p.Ala375Pro)
c.976G>C (p.Ala326Pro)
c.1111+4830G>C (n.1111+4830G>C)
c.943G>C (p.Ala315Pro)
c.1195G>C (p.Ala399Pro)
c.1087G>C (p.Ala363Pro)
c.1015G>C (p.Ala339Pro)
c.1171G>C (p.Ala391Pro)
c.856G>C (p.Ala286Pro)
6g.73610485C>TCA140979099SLC17A5c.1174G>A (p.Ala392Thr)
c.1123G>A (p.Ala375Thr)
c.976G>A (p.Ala326Thr)
c.1111+4830G>A (n.1111+4830G>A)
c.943G>A (p.Ala315Thr)
c.1195G>A (p.Ala399Thr)
c.1087G>A (p.Ala363Thr)
c.1015G>A (p.Ala339Thr)
c.1171G>A (p.Ala391Thr)
c.856G>A (p.Ala286Thr)
 dbSNP
6g.73610486C>ACA364721080SLC17A5c.1173G>T (p.Leu391Phe)
c.1122G>T (p.Leu374Phe)
c.975G>T (p.Leu325Phe)
c.1111+4829G>T (n.1111+4829G>T)
c.942G>T (p.Leu314Phe)
c.1194G>T (p.Leu398Phe)
c.1086G>T (p.Leu362Phe)
c.1014G>T (p.Leu338Phe)
c.1170G>T (p.Leu390Phe)
c.855G>T (p.Leu285Phe)
6g.73610486C=CA1638229764SLC17A5c.1173G= (p.Leu391=)
c.1122G= (p.Leu374=)
c.975G= (p.Leu325=)
c.1111+4829G= (n.1111+4829G=)
c.942G= (p.Leu314=)
c.1194G= (p.Leu398=)
c.1086G= (p.Leu362=)
c.1014G= (p.Leu338=)
c.1170G= (p.Leu390=)
c.855G= (p.Leu285=)
6g.73610486C>GCA140979108SLC17A5c.1173G>C (p.Leu391Phe)
c.1122G>C (p.Leu374Phe)
c.975G>C (p.Leu325Phe)
c.1111+4829G>C (n.1111+4829G>C)
c.942G>C (p.Leu314Phe)
c.1194G>C (p.Leu398Phe)
c.1086G>C (p.Leu362Phe)
c.1014G>C (p.Leu338Phe)
c.1170G>C (p.Leu390Phe)
c.855G>C (p.Leu285Phe)
 dbSNP gnomAD v2 gnomAD v4
6g.73610486C>TCA450914706SLC17A5c.1173G>A (p.Leu391=)
c.1122G>A (p.Leu374=)
c.975G>A (p.Leu325=)
c.1111+4829G>A (n.1111+4829G>A)
c.942G>A (p.Leu314=)
c.1194G>A (p.Leu398=)
c.1086G>A (p.Leu362=)
c.1014G>A (p.Leu338=)
c.1170G>A (p.Leu390=)
c.855G>A (p.Leu285=)
6g.73610487A>CCA364721083SLC17A5c.1172T>G (p.Leu391Trp)
c.1121T>G (p.Leu374Trp)
c.974T>G (p.Leu325Trp)
c.1111+4828T>G (n.1111+4828T>G)
c.941T>G (p.Leu314Trp)
c.1193T>G (p.Leu398Trp)
c.1085T>G (p.Leu362Trp)
c.1013T>G (p.Leu338Trp)
c.1169T>G (p.Leu390Trp)
c.854T>G (p.Leu285Trp)
6g.73610487A>GCA364721081SLC17A5c.1172T>C (p.Leu391Ser)
c.1121T>C (p.Leu374Ser)
c.974T>C (p.Leu325Ser)
c.1111+4828T>C (n.1111+4828T>C)
c.941T>C (p.Leu314Ser)
c.1193T>C (p.Leu398Ser)
c.1085T>C (p.Leu362Ser)
c.1013T>C (p.Leu338Ser)
c.1169T>C (p.Leu390Ser)
c.854T>C (p.Leu285Ser)
6g.73610487A>TCA364721082SLC17A5c.1172T>A (p.Leu391Ter)
c.1121T>A (p.Leu374Ter)
c.974T>A (p.Leu325Ter)
c.1111+4828T>A (n.1111+4828T>A)
c.941T>A (p.Leu314Ter)
c.1193T>A (p.Leu398Ter)
c.1085T>A (p.Leu362Ter)
c.1013T>A (p.Leu338Ter)
c.1169T>A (p.Leu390Ter)
c.854T>A (p.Leu285Ter)
6g.73610488A>CCA364721084SLC17A5c.1171T>G (p.Leu391Val)
c.1120T>G (p.Leu374Val)
c.973T>G (p.Leu325Val)
c.1111+4827T>G (n.1111+4827T>G)
c.940T>G (p.Leu314Val)
c.1192T>G (p.Leu398Val)
c.1084T>G (p.Leu362Val)
c.1012T>G (p.Leu338Val)
c.1168T>G (p.Leu390Val)
c.853T>G (p.Leu285Val)
6g.73610488A>GCA450914708SLC17A5c.1171T>C (p.Leu391=)
c.1120T>C (p.Leu374=)
c.973T>C (p.Leu325=)
c.1111+4827T>C (n.1111+4827T>C)
c.940T>C (p.Leu314=)
c.1192T>C (p.Leu398=)
c.1084T>C (p.Leu362=)
c.1012T>C (p.Leu338=)
c.1168T>C (p.Leu390=)
c.853T>C (p.Leu285=)
6g.73610488A>TCA364721085SLC17A5c.1171T>A (p.Leu391Met)
c.1120T>A (p.Leu374Met)
c.973T>A (p.Leu325Met)
c.1111+4827T>A (n.1111+4827T>A)
c.940T>A (p.Leu314Met)
c.1192T>A (p.Leu398Met)
c.1084T>A (p.Leu362Met)
c.1012T>A (p.Leu338Met)
c.1168T>A (p.Leu390Met)
c.853T>A (p.Leu285Met)
6g.73610489A>CCA450914710SLC17A5c.1170T>G (p.Ser390=)
c.1119T>G (p.Ser373=)
c.972T>G (p.Ser324=)
c.1111+4826T>G (n.1111+4826T>G)
c.939T>G (p.Ser313=)
c.1191T>G (p.Ser397=)
c.1083T>G (p.Ser361=)
c.1011T>G (p.Ser337=)
c.1167T>G (p.Ser389=)
c.852T>G (p.Ser284=)
6g.73610489A>GCA450914711SLC17A5c.1170T>C (p.Ser390=)
c.1119T>C (p.Ser373=)
c.972T>C (p.Ser324=)
c.1111+4826T>C (n.1111+4826T>C)
c.939T>C (p.Ser313=)
c.1191T>C (p.Ser397=)
c.1083T>C (p.Ser361=)
c.1011T>C (p.Ser337=)
c.1167T>C (p.Ser389=)
c.852T>C (p.Ser284=)
6g.73610489A>TCA450914712SLC17A5c.1170T>A (p.Ser390=)
c.1119T>A (p.Ser373=)
c.972T>A (p.Ser324=)
c.1111+4826T>A (n.1111+4826T>A)
c.939T>A (p.Ser313=)
c.1191T>A (p.Ser397=)
c.1083T>A (p.Ser361=)
c.1011T>A (p.Ser337=)
c.1167T>A (p.Ser389=)
c.852T>A (p.Ser284=)
6g.73610490G>ACA364721086SLC17A5c.1169C>T (p.Ser390Phe)
c.1118C>T (p.Ser373Phe)
c.971C>T (p.Ser324Phe)
c.1111+4825C>T (n.1111+4825C>T)
c.938C>T (p.Ser313Phe)
c.1190C>T (p.Ser397Phe)
c.1082C>T (p.Ser361Phe)
c.1010C>T (p.Ser337Phe)
c.1166C>T (p.Ser389Phe)
c.851C>T (p.Ser284Phe)
 COSMIC
6g.73610490G>CCA3890328SLC17A5c.1169C>G (p.Ser390Cys)
c.1118C>G (p.Ser373Cys)
c.971C>G (p.Ser324Cys)
c.1111+4825C>G (n.1111+4825C>G)
c.938C>G (p.Ser313Cys)
c.1190C>G (p.Ser397Cys)
c.1082C>G (p.Ser361Cys)
c.1010C>G (p.Ser337Cys)
c.1166C>G (p.Ser389Cys)
c.851C>G (p.Ser284Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73610490G=CA1638229765SLC17A5c.1169C= (p.Ser390=)
c.1118C= (p.Ser373=)
c.971C= (p.Ser324=)
c.1111+4825C= (n.1111+4825C=)
c.938C= (p.Ser313=)
c.1190C= (p.Ser397=)
c.1082C= (p.Ser361=)
c.1010C= (p.Ser337=)
c.1166C= (p.Ser389=)
c.851C= (p.Ser284=)
6g.73610490G>TCA364721087SLC17A5c.1169C>A (p.Ser390Tyr)
c.1118C>A (p.Ser373Tyr)
c.971C>A (p.Ser324Tyr)
c.1111+4825C>A (n.1111+4825C>A)
c.938C>A (p.Ser313Tyr)
c.1190C>A (p.Ser397Tyr)
c.1082C>A (p.Ser361Tyr)
c.1010C>A (p.Ser337Tyr)
c.1166C>A (p.Ser389Tyr)
c.851C>A (p.Ser284Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.73610491A>CCA364721088SLC17A5c.1168T>G (p.Ser390Ala)
c.1117T>G (p.Ser373Ala)
c.970T>G (p.Ser324Ala)
c.1111+4824T>G (n.1111+4824T>G)
c.937T>G (p.Ser313Ala)
c.1189T>G (p.Ser397Ala)
c.1081T>G (p.Ser361Ala)
c.1009T>G (p.Ser337Ala)
c.1165T>G (p.Ser389Ala)
c.850T>G (p.Ser284Ala)
6g.73610491A>GCA364721089SLC17A5c.1168T>C (p.Ser390Pro)
c.1117T>C (p.Ser373Pro)
c.970T>C (p.Ser324Pro)
c.1111+4824T>C (n.1111+4824T>C)
c.937T>C (p.Ser313Pro)
c.1189T>C (p.Ser397Pro)
c.1081T>C (p.Ser361Pro)
c.1009T>C (p.Ser337Pro)
c.1165T>C (p.Ser389Pro)
c.850T>C (p.Ser284Pro)
6g.73610491A>TCA364721090SLC17A5c.1168T>A (p.Ser390Thr)
c.1117T>A (p.Ser373Thr)
c.970T>A (p.Ser324Thr)
c.1111+4824T>A (n.1111+4824T>A)
c.937T>A (p.Ser313Thr)
c.1189T>A (p.Ser397Thr)
c.1081T>A (p.Ser361Thr)
c.1009T>A (p.Ser337Thr)
c.1165T>A (p.Ser389Thr)
c.850T>A (p.Ser284Thr)
6g.73610492A=CA1638229766SLC17A5c.1167T= (p.Tyr389=)
c.1116T= (p.Tyr372=)
c.969T= (p.Tyr323=)
c.1111+4823T= (n.1111+4823T=)
c.936T= (p.Tyr312=)
c.1188T= (p.Tyr396=)
c.1080T= (p.Tyr360=)
c.1008T= (p.Tyr336=)
c.1164T= (p.Tyr388=)
c.849T= (p.Tyr283=)
6g.73610492A>CCA364721091SLC17A5c.1167T>G (p.Tyr389Ter)
c.1116T>G (p.Tyr372Ter)
c.969T>G (p.Tyr323Ter)
c.1111+4823T>G (n.1111+4823T>G)
c.936T>G (p.Tyr312Ter)
c.1188T>G (p.Tyr396Ter)
c.1080T>G (p.Tyr360Ter)
c.1008T>G (p.Tyr336Ter)
c.1164T>G (p.Tyr388Ter)
c.849T>G (p.Tyr283Ter)
6g.73610492A>GCA140979122SLC17A5c.1167T>C (p.Tyr389=)
c.1116T>C (p.Tyr372=)
c.969T>C (p.Tyr323=)
c.1111+4823T>C (n.1111+4823T>C)
c.936T>C (p.Tyr312=)
c.1188T>C (p.Tyr396=)
c.1080T>C (p.Tyr360=)
c.1008T>C (p.Tyr336=)
c.1164T>C (p.Tyr388=)
c.849T>C (p.Tyr283=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.73610492A>TCA364721092SLC17A5c.1167T>A (p.Tyr389Ter)
c.1116T>A (p.Tyr372Ter)
c.969T>A (p.Tyr323Ter)
c.1111+4823T>A (n.1111+4823T>A)
c.936T>A (p.Tyr312Ter)
c.1188T>A (p.Tyr396Ter)
c.1080T>A (p.Tyr360Ter)
c.1008T>A (p.Tyr336Ter)
c.1164T>A (p.Tyr388Ter)
c.849T>A (p.Tyr283Ter)
6g.73610493T>ACA364721093SLC17A5c.1166A>T (p.Tyr389Phe)
c.1115A>T (p.Tyr372Phe)
c.968A>T (p.Tyr323Phe)
c.1111+4822A>T (n.1111+4822A>T)
c.935A>T (p.Tyr312Phe)
c.1187A>T (p.Tyr396Phe)
c.1079A>T (p.Tyr360Phe)
c.1007A>T (p.Tyr336Phe)
c.1163A>T (p.Tyr388Phe)
c.848A>T (p.Tyr283Phe)
6g.73610493T>CCA3890329SLC17A5c.1166A>G (p.Tyr389Cys)
c.1115A>G (p.Tyr372Cys)
c.968A>G (p.Tyr323Cys)
c.1111+4822A>G (n.1111+4822A>G)
c.935A>G (p.Tyr312Cys)
c.1187A>G (p.Tyr396Cys)
c.1079A>G (p.Tyr360Cys)
c.1007A>G (p.Tyr336Cys)
c.1163A>G (p.Tyr388Cys)
c.848A>G (p.Tyr283Cys)
 dbSNP ExAC gnomAD v2
6g.73610493T>GCA364721094SLC17A5c.1166A>C (p.Tyr389Ser)
c.1115A>C (p.Tyr372Ser)
c.968A>C (p.Tyr323Ser)
c.1111+4822A>C (n.1111+4822A>C)
c.935A>C (p.Tyr312Ser)
c.1187A>C (p.Tyr396Ser)
c.1079A>C (p.Tyr360Ser)
c.1007A>C (p.Tyr336Ser)
c.1163A>C (p.Tyr388Ser)
c.848A>C (p.Tyr283Ser)
6g.73610493T=CA1638229767SLC17A5c.1166A= (p.Tyr389=)
c.1115A= (p.Tyr372=)
c.968A= (p.Tyr323=)
c.1111+4822A= (n.1111+4822A=)
c.935A= (p.Tyr312=)
c.1187A= (p.Tyr396=)
c.1079A= (p.Tyr360=)
c.1007A= (p.Tyr336=)
c.1163A= (p.Tyr388=)
c.848A= (p.Tyr283=)
6g.73610494A>CCA364721095SLC17A5c.1165T>G (p.Tyr389Asp)
c.1114T>G (p.Tyr372Asp)
c.967T>G (p.Tyr323Asp)
c.1111+4821T>G (n.1111+4821T>G)
c.934T>G (p.Tyr312Asp)
c.1186T>G (p.Tyr396Asp)
c.1078T>G (p.Tyr360Asp)
c.1006T>G (p.Tyr336Asp)
c.1162T>G (p.Tyr388Asp)
c.847T>G (p.Tyr283Asp)
6g.73610494A>GCA364721097SLC17A5c.1165T>C (p.Tyr389His)
c.1114T>C (p.Tyr372His)
c.967T>C (p.Tyr323His)
c.1111+4821T>C (n.1111+4821T>C)
c.934T>C (p.Tyr312His)
c.1186T>C (p.Tyr396His)
c.1078T>C (p.Tyr360His)
c.1006T>C (p.Tyr336His)
c.1162T>C (p.Tyr388His)
c.847T>C (p.Tyr283His)
6g.73610494A>TCA364721096SLC17A5c.1165T>A (p.Tyr389Asn)
c.1114T>A (p.Tyr372Asn)
c.967T>A (p.Tyr323Asn)
c.1111+4821T>A (n.1111+4821T>A)
c.934T>A (p.Tyr312Asn)
c.1186T>A (p.Tyr396Asn)
c.1078T>A (p.Tyr360Asn)
c.1006T>A (p.Tyr336Asn)
c.1162T>A (p.Tyr388Asn)
c.847T>A (p.Tyr283Asn)
6g.73610495A>CCA364721098SLC17A5c.1164T>G (p.Asp388Glu)
c.1113T>G (p.Asp371Glu)
c.966T>G (p.Asp322Glu)
c.1111+4820T>G (n.1111+4820T>G)
c.933T>G (p.Asp311Glu)
c.1185T>G (p.Asp395Glu)
c.1077T>G (p.Asp359Glu)
c.1005T>G (p.Asp335Glu)
c.1161T>G (p.Asp387Glu)
c.846T>G (p.Asp282Glu)
6g.73610495A>GCA450914726SLC17A5c.1164T>C (p.Asp388=)
c.1113T>C (p.Asp371=)
c.966T>C (p.Asp322=)
c.1111+4820T>C (n.1111+4820T>C)
c.933T>C (p.Asp311=)
c.1185T>C (p.Asp395=)
c.1077T>C (p.Asp359=)
c.1005T>C (p.Asp335=)
c.1161T>C (p.Asp387=)
c.846T>C (p.Asp282=)
6g.73610495A>TCA364721099SLC17A5c.1164T>A (p.Asp388Glu)
c.1113T>A (p.Asp371Glu)
c.966T>A (p.Asp322Glu)
c.1111+4820T>A (n.1111+4820T>A)
c.933T>A (p.Asp311Glu)
c.1185T>A (p.Asp395Glu)
c.1077T>A (p.Asp359Glu)
c.1005T>A (p.Asp335Glu)
c.1161T>A (p.Asp387Glu)
c.846T>A (p.Asp282Glu)
6g.73610496T>ACA364721100SLC17A5c.1163A>T (p.Asp388Val)
c.1112A>T (p.Asp371Val)
c.965A>T (p.Asp322Val)
c.1111+4819A>T (n.1111+4819A>T)
c.932A>T (p.Asp311Val)
c.1184A>T (p.Asp395Val)
c.1076A>T (p.Asp359Val)
c.1004A>T (p.Asp335Val)
c.1160A>T (p.Asp387Val)
c.845A>T (p.Asp282Val)
6g.73610496T>CCA364721101SLC17A5c.1163A>G (p.Asp388Gly)
c.1112A>G (p.Asp371Gly)
c.965A>G (p.Asp322Gly)
c.1111+4819A>G (n.1111+4819A>G)
c.932A>G (p.Asp311Gly)
c.1184A>G (p.Asp395Gly)
c.1076A>G (p.Asp359Gly)
c.1004A>G (p.Asp335Gly)
c.1160A>G (p.Asp387Gly)
c.845A>G (p.Asp282Gly)
 dbSNP gnomAD v2
6g.73610496T>GCA364721102SLC17A5c.1163A>C (p.Asp388Ala)
c.1112A>C (p.Asp371Ala)
c.965A>C (p.Asp322Ala)
c.1111+4819A>C (n.1111+4819A>C)
c.932A>C (p.Asp311Ala)
c.1184A>C (p.Asp395Ala)
c.1076A>C (p.Asp359Ala)
c.1004A>C (p.Asp335Ala)
c.1160A>C (p.Asp387Ala)
c.845A>C (p.Asp282Ala)
6g.73610496T=CA1638229768SLC17A5c.1163A= (p.Asp388=)
c.1112A= (p.Asp371=)
c.965A= (p.Asp322=)
c.1111+4819A= (n.1111+4819A=)
c.932A= (p.Asp311=)
c.1184A= (p.Asp395=)
c.1076A= (p.Asp359=)
c.1004A= (p.Asp335=)
c.1160A= (p.Asp387=)
c.845A= (p.Asp282=)
6g.73610497C>ACA364721103SLC17A5c.1162G>T (p.Asp388Tyr)
c.1111G>T (p.Asp371Tyr)
c.964G>T (p.Asp322Tyr)
c.1111+4818G>T (n.1111+4818G>T)
c.931G>T (p.Asp311Tyr)
c.1183G>T (p.Asp395Tyr)
c.1075G>T (p.Asp359Tyr)
c.1003G>T (p.Asp335Tyr)
c.1159G>T (p.Asp387Tyr)
c.844G>T (p.Asp282Tyr)
6g.73610497C>GCA364721104SLC17A5c.1162G>C (p.Asp388His)
c.1111G>C (p.Asp371His)
c.964G>C (p.Asp322His)
c.1111+4818G>C (n.1111+4818G>C)
c.931G>C (p.Asp311His)
c.1183G>C (p.Asp395His)
c.1075G>C (p.Asp359His)
c.1003G>C (p.Asp335His)
c.1159G>C (p.Asp387His)
c.844G>C (p.Asp282His)
6g.73610497C>TCA364721105SLC17A5c.1162G>A (p.Asp388Asn)
c.1111G>A (p.Asp371Asn)
c.964G>A (p.Asp322Asn)
c.1111+4818G>A (n.1111+4818G>A)
c.931G>A (p.Asp311Asn)
c.1183G>A (p.Asp395Asn)
c.1075G>A (p.Asp359Asn)
c.1003G>A (p.Asp335Asn)
c.1159G>A (p.Asp387Asn)
c.844G>A (p.Asp282Asn)
6g.73610498A=CA1638229769SLC17A5c.1161T= (p.Cys387=)
c.1110T= (p.Cys370=)
c.963T= (p.Cys321=)
c.1111+4817T= (n.1111+4817T=)
c.930T= (p.Cys310=)
c.1182T= (p.Cys394=)
c.1074T= (p.Cys358=)
c.1002T= (p.Cys334=)
c.1158T= (p.Cys386=)
c.843T= (p.Cys281=)
6g.73610498A>CCA3890330SLC17A5c.1161T>G (p.Cys387Trp)
c.1110T>G (p.Cys370Trp)
c.963T>G (p.Cys321Trp)
c.1111+4817T>G (n.1111+4817T>G)
c.930T>G (p.Cys310Trp)
c.1182T>G (p.Cys394Trp)
c.1074T>G (p.Cys358Trp)
c.1002T>G (p.Cys334Trp)
c.1158T>G (p.Cys386Trp)
c.843T>G (p.Cys281Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73610498A>GCA3890331SLC17A5c.1161T>C (p.Cys387=)
c.1110T>C (p.Cys370=)
c.963T>C (p.Cys321=)
c.1111+4817T>C (n.1111+4817T>C)
c.930T>C (p.Cys310=)
c.1182T>C (p.Cys394=)
c.1074T>C (p.Cys358=)
c.1002T>C (p.Cys334=)
c.1158T>C (p.Cys386=)
c.843T>C (p.Cys281=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73610498A>TCA364721106SLC17A5c.1161T>A (p.Cys387Ter)
c.1110T>A (p.Cys370Ter)
c.963T>A (p.Cys321Ter)
c.1111+4817T>A (n.1111+4817T>A)
c.930T>A (p.Cys310Ter)
c.1182T>A (p.Cys394Ter)
c.1074T>A (p.Cys358Ter)
c.1002T>A (p.Cys334Ter)
c.1158T>A (p.Cys386Ter)
c.843T>A (p.Cys281Ter)
6g.73610499C>ACA364721108SLC17A5c.1160G>T (p.Cys387Phe)
c.1109G>T (p.Cys370Phe)
c.962G>T (p.Cys321Phe)
c.1111+4816G>T (n.1111+4816G>T)
c.929G>T (p.Cys310Phe)
c.1181G>T (p.Cys394Phe)
c.1073G>T (p.Cys358Phe)
c.1001G>T (p.Cys334Phe)
c.1157G>T (p.Cys386Phe)
c.842G>T (p.Cys281Phe)
6g.73610499C=CA1638229770SLC17A5c.1160G= (p.Cys387=)
c.1109G= (p.Cys370=)
c.962G= (p.Cys321=)
c.1111+4816G= (n.1111+4816G=)
c.929G= (p.Cys310=)
c.1181G= (p.Cys394=)
c.1073G= (p.Cys358=)
c.1001G= (p.Cys334=)
c.1157G= (p.Cys386=)
c.842G= (p.Cys281=)
6g.73610499C>GCA3890332SLC17A5c.1160G>C (p.Cys387Ser)
c.1109G>C (p.Cys370Ser)
c.962G>C (p.Cys321Ser)
c.1111+4816G>C (n.1111+4816G>C)
c.929G>C (p.Cys310Ser)
c.1181G>C (p.Cys394Ser)
c.1073G>C (p.Cys358Ser)
c.1001G>C (p.Cys334Ser)
c.1157G>C (p.Cys386Ser)
c.842G>C (p.Cys281Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73610499C>TCA364721107SLC17A5c.1160G>A (p.Cys387Tyr)
c.1109G>A (p.Cys370Tyr)
c.962G>A (p.Cys321Tyr)
c.1111+4816G>A (n.1111+4816G>A)
c.929G>A (p.Cys310Tyr)
c.1181G>A (p.Cys394Tyr)
c.1073G>A (p.Cys358Tyr)
c.1001G>A (p.Cys334Tyr)
c.1157G>A (p.Cys386Tyr)
c.842G>A (p.Cys281Tyr)
6g.73610500A>CCA364721109SLC17A5c.1159T>G (p.Cys387Gly)
c.1108T>G (p.Cys370Gly)
c.961T>G (p.Cys321Gly)
c.1111+4815T>G (n.1111+4815T>G)
c.928T>G (p.Cys310Gly)
c.1180T>G (p.Cys394Gly)
c.1072T>G (p.Cys358Gly)
c.1000T>G (p.Cys334Gly)
c.1156T>G (p.Cys386Gly)
c.841T>G (p.Cys281Gly)
6g.73610500A>GCA364721110SLC17A5c.1159T>C (p.Cys387Arg)
c.1108T>C (p.Cys370Arg)
c.961T>C (p.Cys321Arg)
c.1111+4815T>C (n.1111+4815T>C)
c.928T>C (p.Cys310Arg)
c.1180T>C (p.Cys394Arg)
c.1072T>C (p.Cys358Arg)
c.1000T>C (p.Cys334Arg)
c.1156T>C (p.Cys386Arg)
c.841T>C (p.Cys281Arg)
6g.73610500A>TCA364721111SLC17A5c.1159T>A (p.Cys387Ser)
c.1108T>A (p.Cys370Ser)
c.961T>A (p.Cys321Ser)
c.1111+4815T>A (n.1111+4815T>A)
c.928T>A (p.Cys310Ser)
c.1180T>A (p.Cys394Ser)
c.1072T>A (p.Cys358Ser)
c.1000T>A (p.Cys334Ser)
c.1156T>A (p.Cys386Ser)
c.841T>A (p.Cys281Ser)
6g.73610501G>ACA450914742SLC17A5c.1158C>T (p.Gly386=)
c.1107C>T (p.Gly369=)
c.960C>T (p.Gly320=)
c.1111+4814C>T (n.1111+4814C>T)
c.927C>T (p.Gly309=)
c.1179C>T (p.Gly393=)
c.1071C>T (p.Gly357=)
c.999C>T (p.Gly333=)
c.1155C>T (p.Gly385=)
c.840C>T (p.Gly280=)
6g.73610501G>CCA450914744SLC17A5c.1158C>G (p.Gly386=)
c.1107C>G (p.Gly369=)
c.960C>G (p.Gly320=)
c.1111+4814C>G (n.1111+4814C>G)
c.927C>G (p.Gly309=)
c.1179C>G (p.Gly393=)
c.1071C>G (p.Gly357=)
c.999C>G (p.Gly333=)
c.1155C>G (p.Gly385=)
c.840C>G (p.Gly280=)
6g.73610501G>TCA450914738SLC17A5c.1158C>A (p.Gly386=)
c.1107C>A (p.Gly369=)
c.960C>A (p.Gly320=)
c.1111+4814C>A (n.1111+4814C>A)
c.927C>A (p.Gly309=)
c.1179C>A (p.Gly393=)
c.1071C>A (p.Gly357=)
c.999C>A (p.Gly333=)
c.1155C>A (p.Gly385=)
c.840C>A (p.Gly280=)
6g.73610502C>ACA364721112SLC17A5c.1157G>T (p.Gly386Val)
c.1106G>T (p.Gly369Val)
c.959G>T (p.Gly320Val)
c.1111+4813G>T (n.1111+4813G>T)
c.926G>T (p.Gly309Val)
c.1178G>T (p.Gly393Val)
c.1070G>T (p.Gly357Val)
c.998G>T (p.Gly333Val)
c.1154G>T (p.Gly385Val)
c.839G>T (p.Gly280Val)
6g.73610502C>GCA364721113SLC17A5c.1157G>C (p.Gly386Ala)
c.1106G>C (p.Gly369Ala)
c.959G>C (p.Gly320Ala)
c.1111+4813G>C (n.1111+4813G>C)
c.926G>C (p.Gly309Ala)
c.1178G>C (p.Gly393Ala)
c.1070G>C (p.Gly357Ala)
c.998G>C (p.Gly333Ala)
c.1154G>C (p.Gly385Ala)
c.839G>C (p.Gly280Ala)
6g.73610502C>TCA364721114SLC17A5c.1157G>A (p.Gly386Asp)
c.1106G>A (p.Gly369Asp)
c.959G>A (p.Gly320Asp)
c.1111+4813G>A (n.1111+4813G>A)
c.926G>A (p.Gly309Asp)
c.1178G>A (p.Gly393Asp)
c.1070G>A (p.Gly357Asp)
c.998G>A (p.Gly333Asp)
c.1154G>A (p.Gly385Asp)
c.839G>A (p.Gly280Asp)
6g.73610503C>ACA364721115SLC17A5c.1156G>T (p.Gly386Cys)
c.1105G>T (p.Gly369Cys)
c.958G>T (p.Gly320Cys)
c.1111+4812G>T (n.1111+4812G>T)
c.925G>T (p.Gly309Cys)
c.1177G>T (p.Gly393Cys)
c.1069G>T (p.Gly357Cys)
c.997G>T (p.Gly333Cys)
c.1153G>T (p.Gly385Cys)
c.838G>T (p.Gly280Cys)
6g.73610503C>GCA364721116SLC17A5c.1156G>C (p.Gly386Arg)
c.1105G>C (p.Gly369Arg)
c.958G>C (p.Gly320Arg)
c.1111+4812G>C (n.1111+4812G>C)
c.925G>C (p.Gly309Arg)
c.1177G>C (p.Gly393Arg)
c.1069G>C (p.Gly357Arg)
c.997G>C (p.Gly333Arg)
c.1153G>C (p.Gly385Arg)
c.838G>C (p.Gly280Arg)
6g.73610503C>TCA364721117SLC17A5c.1156G>A (p.Gly386Ser)
c.1105G>A (p.Gly369Ser)
c.958G>A (p.Gly320Ser)
c.1111+4812G>A (n.1111+4812G>A)
c.925G>A (p.Gly309Ser)
c.1177G>A (p.Gly393Ser)
c.1069G>A (p.Gly357Ser)
c.997G>A (p.Gly333Ser)
c.1153G>A (p.Gly385Ser)
c.838G>A (p.Gly280Ser)
6g.73610504A>CCA364721118SLC17A5c.1155T>G (p.Ile385Met)
c.1104T>G (p.Ile368Met)
c.957T>G (p.Ile319Met)
c.1111+4811T>G (n.1111+4811T>G)
c.924T>G (p.Ile308Met)
c.1176T>G (p.Ile392Met)
c.1068T>G (p.Ile356Met)
c.996T>G (p.Ile332Met)
c.1152T>G (p.Ile384Met)
c.837T>G (p.Ile279Met)
6g.73610504A>GCA450914749SLC17A5c.1155T>C (p.Ile385=)
c.1104T>C (p.Ile368=)
c.957T>C (p.Ile319=)
c.1111+4811T>C (n.1111+4811T>C)
c.924T>C (p.Ile308=)
c.1176T>C (p.Ile392=)
c.1068T>C (p.Ile356=)
c.996T>C (p.Ile332=)
c.1152T>C (p.Ile384=)
c.837T>C (p.Ile279=)
6g.73610504A>TCA450914750SLC17A5c.1155T>A (p.Ile385=)
c.1104T>A (p.Ile368=)
c.957T>A (p.Ile319=)
c.1111+4811T>A (n.1111+4811T>A)
c.924T>A (p.Ile308=)
c.1176T>A (p.Ile392=)
c.1068T>A (p.Ile356=)
c.996T>A (p.Ile332=)
c.1152T>A (p.Ile384=)
c.837T>A (p.Ile279=)
6g.73610505A=CA1638229771SLC17A5c.1154T= (p.Ile385=)
c.1103T= (p.Ile368=)
c.956T= (p.Ile319=)
c.1111+4810T= (n.1111+4810T=)
c.923T= (p.Ile308=)
c.1175T= (p.Ile392=)
c.1067T= (p.Ile356=)
c.995T= (p.Ile332=)
c.1151T= (p.Ile384=)
c.836T= (p.Ile279=)
6g.73610505A>CCA364721119SLC17A5c.1154T>G (p.Ile385Ser)
c.1103T>G (p.Ile368Ser)
c.956T>G (p.Ile319Ser)
c.1111+4810T>G (n.1111+4810T>G)
c.923T>G (p.Ile308Ser)
c.1175T>G (p.Ile392Ser)
c.1067T>G (p.Ile356Ser)
c.995T>G (p.Ile332Ser)
c.1151T>G (p.Ile384Ser)
c.836T>G (p.Ile279Ser)
6g.73610505A>GCA3890333SLC17A5c.1154T>C (p.Ile385Thr)
c.1103T>C (p.Ile368Thr)
c.956T>C (p.Ile319Thr)
c.1111+4810T>C (n.1111+4810T>C)
c.923T>C (p.Ile308Thr)
c.1175T>C (p.Ile392Thr)
c.1067T>C (p.Ile356Thr)
c.995T>C (p.Ile332Thr)
c.1151T>C (p.Ile384Thr)
c.836T>C (p.Ile279Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73610505A>TCA364721120SLC17A5c.1154T>A (p.Ile385Asn)
c.1103T>A (p.Ile368Asn)
c.956T>A (p.Ile319Asn)
c.1111+4810T>A (n.1111+4810T>A)
c.923T>A (p.Ile308Asn)
c.1175T>A (p.Ile392Asn)
c.1067T>A (p.Ile356Asn)
c.995T>A (p.Ile332Asn)
c.1151T>A (p.Ile384Asn)
c.836T>A (p.Ile279Asn)
6g.73610506T>ACA364721122SLC17A5c.1153A>T (p.Ile385Phe)
c.1102A>T (p.Ile368Phe)
c.955A>T (p.Ile319Phe)
c.1111+4809A>T (n.1111+4809A>T)
c.922A>T (p.Ile308Phe)
c.1174A>T (p.Ile392Phe)
c.1066A>T (p.Ile356Phe)
c.994A>T (p.Ile332Phe)
c.1150A>T (p.Ile384Phe)
c.835A>T (p.Ile279Phe)
6g.73610506T>CCA364721123SLC17A5c.1153A>G (p.Ile385Val)
c.1102A>G (p.Ile368Val)
c.955A>G (p.Ile319Val)
c.1111+4809A>G (n.1111+4809A>G)
c.922A>G (p.Ile308Val)
c.1174A>G (p.Ile392Val)
c.1066A>G (p.Ile356Val)
c.994A>G (p.Ile332Val)
c.1150A>G (p.Ile384Val)
c.835A>G (p.Ile279Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.73610506T>GCA364721121SLC17A5c.1153A>C (p.Ile385Leu)
c.1102A>C (p.Ile368Leu)
c.955A>C (p.Ile319Leu)
c.1111+4809A>C (n.1111+4809A>C)
c.922A>C (p.Ile308Leu)
c.1174A>C (p.Ile392Leu)
c.1066A>C (p.Ile356Leu)
c.994A>C (p.Ile332Leu)
c.1150A>C (p.Ile384Leu)
c.835A>C (p.Ile279Leu)
6g.73610506T=CA1638229772SLC17A5c.1153A= (p.Ile385=)
c.1102A= (p.Ile368=)
c.955A= (p.Ile319=)
c.1111+4809A= (n.1111+4809A=)
c.922A= (p.Ile308=)
c.1174A= (p.Ile392=)
c.1066A= (p.Ile356=)
c.994A= (p.Ile332=)
c.1150A= (p.Ile384=)
c.835A= (p.Ile279=)
6g.73610507G>ACA450914757SLC17A5c.1152C>T (p.Phe384=)
c.1101C>T (p.Phe367=)
c.954C>T (p.Phe318=)
c.1111+4808C>T (n.1111+4808C>T)
c.921C>T (p.Phe307=)
c.1173C>T (p.Phe391=)
c.1065C>T (p.Phe355=)
c.993C>T (p.Phe331=)
c.1149C>T (p.Phe383=)
c.834C>T (p.Phe278=)
 gnomAD v4
6g.73610507G>CCA364721125SLC17A5c.1152C>G (p.Phe384Leu)
c.1101C>G (p.Phe367Leu)
c.954C>G (p.Phe318Leu)
c.1111+4808C>G (n.1111+4808C>G)
c.921C>G (p.Phe307Leu)
c.1173C>G (p.Phe391Leu)
c.1065C>G (p.Phe355Leu)
c.993C>G (p.Phe331Leu)
c.1149C>G (p.Phe383Leu)
c.834C>G (p.Phe278Leu)
6g.73610507G>TCA364721124SLC17A5c.1152C>A (p.Phe384Leu)
c.1101C>A (p.Phe367Leu)
c.954C>A (p.Phe318Leu)
c.1111+4808C>A (n.1111+4808C>A)
c.921C>A (p.Phe307Leu)
c.1173C>A (p.Phe391Leu)
c.1065C>A (p.Phe355Leu)
c.993C>A (p.Phe331Leu)
c.1149C>A (p.Phe383Leu)
c.834C>A (p.Phe278Leu)
6g.73610508A>CCA364721128SLC17A5c.1151T>G (p.Phe384Cys)
c.1100T>G (p.Phe367Cys)
c.953T>G (p.Phe318Cys)
c.1111+4807T>G (n.1111+4807T>G)
c.920T>G (p.Phe307Cys)
c.1172T>G (p.Phe391Cys)
c.1064T>G (p.Phe355Cys)
c.992T>G (p.Phe331Cys)
c.1148T>G (p.Phe383Cys)
c.833T>G (p.Phe278Cys)
6g.73610508A>GCA364721126SLC17A5c.1151T>C (p.Phe384Ser)
c.1100T>C (p.Phe367Ser)
c.953T>C (p.Phe318Ser)
c.1111+4807T>C (n.1111+4807T>C)
c.920T>C (p.Phe307Ser)
c.1172T>C (p.Phe391Ser)
c.1064T>C (p.Phe355Ser)
c.992T>C (p.Phe331Ser)
c.1148T>C (p.Phe383Ser)
c.833T>C (p.Phe278Ser)
6g.73610508A>TCA364721127SLC17A5c.1151T>A (p.Phe384Tyr)
c.1100T>A (p.Phe367Tyr)
c.953T>A (p.Phe318Tyr)
c.1111+4807T>A (n.1111+4807T>A)
c.920T>A (p.Phe307Tyr)
c.1172T>A (p.Phe391Tyr)
c.1064T>A (p.Phe355Tyr)
c.992T>A (p.Phe331Tyr)
c.1148T>A (p.Phe383Tyr)
c.833T>A (p.Phe278Tyr)
6g.73610509A>CCA364721129SLC17A5c.1150T>G (p.Phe384Val)
c.1099T>G (p.Phe367Val)
c.952T>G (p.Phe318Val)
c.1111+4806T>G (n.1111+4806T>G)
c.919T>G (p.Phe307Val)
c.1171T>G (p.Phe391Val)
c.1063T>G (p.Phe355Val)
c.991T>G (p.Phe331Val)
c.1147T>G (p.Phe383Val)
c.832T>G (p.Phe278Val)
6g.73610509A>GCA364721130SLC17A5c.1150T>C (p.Phe384Leu)
c.1099T>C (p.Phe367Leu)
c.952T>C (p.Phe318Leu)
c.1111+4806T>C (n.1111+4806T>C)
c.919T>C (p.Phe307Leu)
c.1171T>C (p.Phe391Leu)
c.1063T>C (p.Phe355Leu)
c.991T>C (p.Phe331Leu)
c.1147T>C (p.Phe383Leu)
c.832T>C (p.Phe278Leu)
6g.73610509A>TCA364721131SLC17A5c.1150T>A (p.Phe384Ile)
c.1099T>A (p.Phe367Ile)
c.952T>A (p.Phe318Ile)
c.1111+4806T>A (n.1111+4806T>A)
c.919T>A (p.Phe307Ile)
c.1171T>A (p.Phe391Ile)
c.1063T>A (p.Phe355Ile)
c.991T>A (p.Phe331Ile)
c.1147T>A (p.Phe383Ile)
c.832T>A (p.Phe278Ile)
6g.73610510G>ACA450914765SLC17A5c.1149C>T (p.Gly383=)
c.1098C>T (p.Gly366=)
c.951C>T (p.Gly317=)
c.1111+4805C>T (n.1111+4805C>T)
c.918C>T (p.Gly306=)
c.1170C>T (p.Gly390=)
c.1062C>T (p.Gly354=)
c.990C>T (p.Gly330=)
c.1146C>T (p.Gly382=)
c.831C>T (p.Gly277=)
 ClinVar gnomAD v4
6g.73610510G>CCA450914766SLC17A5c.1149C>G (p.Gly383=)
c.1098C>G (p.Gly366=)
c.951C>G (p.Gly317=)
c.1111+4805C>G (n.1111+4805C>G)
c.918C>G (p.Gly306=)
c.1170C>G (p.Gly390=)
c.1062C>G (p.Gly354=)
c.990C>G (p.Gly330=)
c.1146C>G (p.Gly382=)
c.831C>G (p.Gly277=)
6g.73610510G>TCA450914768SLC17A5c.1149C>A (p.Gly383=)
c.1098C>A (p.Gly366=)
c.951C>A (p.Gly317=)
c.1111+4805C>A (n.1111+4805C>A)
c.918C>A (p.Gly306=)
c.1170C>A (p.Gly390=)
c.1062C>A (p.Gly354=)
c.990C>A (p.Gly330=)
c.1146C>A (p.Gly382=)
c.831C>A (p.Gly277=)
6g.73610511C>ACA364721133SLC17A5c.1148G>T (p.Gly383Val)
c.1097G>T (p.Gly366Val)
c.950G>T (p.Gly317Val)
c.1111+4804G>T (n.1111+4804G>T)
c.917G>T (p.Gly306Val)
c.1169G>T (p.Gly390Val)
c.1061G>T (p.Gly354Val)
c.989G>T (p.Gly330Val)
c.1145G>T (p.Gly382Val)
c.830G>T (p.Gly277Val)
 dbSNP
6g.73610511C=CA1638229773SLC17A5c.1148G= (p.Gly383=)
c.1097G= (p.Gly366=)
c.950G= (p.Gly317=)
c.1111+4804G= (n.1111+4804G=)
c.917G= (p.Gly306=)
c.1169G= (p.Gly390=)
c.1061G= (p.Gly354=)
c.989G= (p.Gly330=)
c.1145G= (p.Gly382=)
c.830G= (p.Gly277=)
6g.73610511C>GCA3890334SLC17A5c.1148G>C (p.Gly383Ala)
c.1097G>C (p.Gly366Ala)
c.950G>C (p.Gly317Ala)
c.1111+4804G>C (n.1111+4804G>C)
c.917G>C (p.Gly306Ala)
c.1169G>C (p.Gly390Ala)
c.1061G>C (p.Gly354Ala)
c.989G>C (p.Gly330Ala)
c.1145G>C (p.Gly382Ala)
c.830G>C (p.Gly277Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73610511C>TCA364721132SLC17A5c.1148G>A (p.Gly383Asp)
c.1097G>A (p.Gly366Asp)
c.950G>A (p.Gly317Asp)
c.1111+4804G>A (n.1111+4804G>A)
c.917G>A (p.Gly306Asp)
c.1169G>A (p.Gly390Asp)
c.1061G>A (p.Gly354Asp)
c.989G>A (p.Gly330Asp)
c.1145G>A (p.Gly382Asp)
c.830G>A (p.Gly277Asp)
6g.73610512C>ACA364721134SLC17A5c.1147G>T (p.Gly383Cys)
c.1096G>T (p.Gly366Cys)
c.949G>T (p.Gly317Cys)
c.1111+4803G>T (n.1111+4803G>T)
c.916G>T (p.Gly306Cys)
c.1168G>T (p.Gly390Cys)
c.1060G>T (p.Gly354Cys)
c.988G>T (p.Gly330Cys)
c.1144G>T (p.Gly382Cys)
c.829G>T (p.Gly277Cys)
6g.73610512C>GCA364721135SLC17A5c.1147G>C (p.Gly383Arg)
c.1096G>C (p.Gly366Arg)
c.949G>C (p.Gly317Arg)
c.1111+4803G>C (n.1111+4803G>C)
c.916G>C (p.Gly306Arg)
c.1168G>C (p.Gly390Arg)
c.1060G>C (p.Gly354Arg)
c.988G>C (p.Gly330Arg)
c.1144G>C (p.Gly382Arg)
c.829G>C (p.Gly277Arg)
6g.73610512C>TCA364721136SLC17A5c.1147G>A (p.Gly383Ser)
c.1096G>A (p.Gly366Ser)
c.949G>A (p.Gly317Ser)
c.1111+4803G>A (n.1111+4803G>A)
c.916G>A (p.Gly306Ser)
c.1168G>A (p.Gly390Ser)
c.1060G>A (p.Gly354Ser)
c.988G>A (p.Gly330Ser)
c.1144G>A (p.Gly382Ser)
c.829G>A (p.Gly277Ser)
 gnomAD v4
6g.73610513A=CA1638229774SLC17A5c.1146T= (p.Ala382=)
c.1095T= (p.Ala365=)
c.948T= (p.Ala316=)
c.1111+4802T= (n.1111+4802T=)
c.915T= (p.Ala305=)
c.1167T= (p.Ala389=)
c.1059T= (p.Ala353=)
c.987T= (p.Ala329=)
c.1143T= (p.Ala381=)
c.828T= (p.Ala276=)
6g.73610513A>CCA450914773SLC17A5c.1146T>G (p.Ala382=)
c.1095T>G (p.Ala365=)
c.948T>G (p.Ala316=)
c.1111+4802T>G (n.1111+4802T>G)
c.915T>G (p.Ala305=)
c.1167T>G (p.Ala389=)
c.1059T>G (p.Ala353=)
c.987T>G (p.Ala329=)
c.1143T>G (p.Ala381=)
c.828T>G (p.Ala276=)
6g.73610513A>GCA140979157SLC17A5c.1146T>C (p.Ala382=)
c.1095T>C (p.Ala365=)
c.948T>C (p.Ala316=)
c.1111+4802T>C (n.1111+4802T>C)
c.915T>C (p.Ala305=)
c.1167T>C (p.Ala389=)
c.1059T>C (p.Ala353=)
c.987T>C (p.Ala329=)
c.1143T>C (p.Ala381=)
c.828T>C (p.Ala276=)
 dbSNP
6g.73610513A>TCA450914776SLC17A5c.1146T>A (p.Ala382=)
c.1095T>A (p.Ala365=)
c.948T>A (p.Ala316=)
c.1111+4802T>A (n.1111+4802T>A)
c.915T>A (p.Ala305=)
c.1167T>A (p.Ala389=)
c.1059T>A (p.Ala353=)
c.987T>A (p.Ala329=)
c.1143T>A (p.Ala381=)
c.828T>A (p.Ala276=)
6g.73610514G>ACA364721137SLC17A5c.1145C>T (p.Ala382Val)
c.1094C>T (p.Ala365Val)
c.947C>T (p.Ala316Val)
c.1111+4801C>T (n.1111+4801C>T)
c.914C>T (p.Ala305Val)
c.1166C>T (p.Ala389Val)
c.1058C>T (p.Ala353Val)
c.986C>T (p.Ala329Val)
c.1142C>T (p.Ala381Val)
c.827C>T (p.Ala276Val)
 dbSNP gnomAD v2 gnomAD v4
6g.73610514G>CCA364721138SLC17A5c.1145C>G (p.Ala382Gly)
c.1094C>G (p.Ala365Gly)
c.947C>G (p.Ala316Gly)
c.1111+4801C>G (n.1111+4801C>G)
c.914C>G (p.Ala305Gly)
c.1166C>G (p.Ala389Gly)
c.1058C>G (p.Ala353Gly)
c.986C>G (p.Ala329Gly)
c.1142C>G (p.Ala381Gly)
c.827C>G (p.Ala276Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.73610514G=CA1638229775SLC17A5c.1145C= (p.Ala382=)
c.1094C= (p.Ala365=)
c.947C= (p.Ala316=)
c.1111+4801C= (n.1111+4801C=)
c.914C= (p.Ala305=)
c.1166C= (p.Ala389=)
c.1058C= (p.Ala353=)
c.986C= (p.Ala329=)
c.1142C= (p.Ala381=)
c.827C= (p.Ala276=)
6g.73610514G>TCA364721139SLC17A5c.1145C>A (p.Ala382Asp)
c.1094C>A (p.Ala365Asp)
c.947C>A (p.Ala316Asp)
c.1111+4801C>A (n.1111+4801C>A)
c.914C>A (p.Ala305Asp)
c.1166C>A (p.Ala389Asp)
c.1058C>A (p.Ala353Asp)
c.986C>A (p.Ala329Asp)
c.1142C>A (p.Ala381Asp)
c.827C>A (p.Ala276Asp)
 COSMIC
6g.73610515C>ACA364721140SLC17A5c.1144G>T (p.Ala382Ser)
c.1093G>T (p.Ala365Ser)
c.946G>T (p.Ala316Ser)
c.1111+4800G>T (n.1111+4800G>T)
c.913G>T (p.Ala305Ser)
c.1165G>T (p.Ala389Ser)
c.1057G>T (p.Ala353Ser)
c.985G>T (p.Ala329Ser)
c.1141G>T (p.Ala381Ser)
c.826G>T (p.Ala276Ser)
6g.73610515C>GCA364721142SLC17A5c.1144G>C (p.Ala382Pro)
c.1093G>C (p.Ala365Pro)
c.946G>C (p.Ala316Pro)
c.1111+4800G>C (n.1111+4800G>C)
c.913G>C (p.Ala305Pro)
c.1165G>C (p.Ala389Pro)
c.1057G>C (p.Ala353Pro)
c.985G>C (p.Ala329Pro)
c.1141G>C (p.Ala381Pro)
c.826G>C (p.Ala276Pro)
6g.73610515C>TCA364721141SLC17A5c.1144G>A (p.Ala382Thr)
c.1093G>A (p.Ala365Thr)
c.946G>A (p.Ala316Thr)
c.1111+4800G>A (n.1111+4800G>A)
c.913G>A (p.Ala305Thr)
c.1165G>A (p.Ala389Thr)
c.1057G>A (p.Ala353Thr)
c.985G>A (p.Ala329Thr)
c.1141G>A (p.Ala381Thr)
c.826G>A (p.Ala276Thr)
 gnomAD v4
6g.73610516delCA2679403541SLC17A5c.1143del (p.Ala382LeufsTer15)
c.1092del (p.Ala365LeufsTer15)
c.945del (p.Ala316LeufsTer15)
c.1111+4799del (n.1111+4799del)
c.912del (p.Ala305LeufsTer15)
c.1164del (p.Ala389LeufsTer15)
c.1056del (p.Ala353LeufsTer15)
c.984del (p.Ala329LeufsTer15)
c.1140del (p.Ala381LeufsTer15)
c.825del (p.Ala276LeufsTer15)
 gnomAD v4
6g.73610516A>CCA450914780SLC17A5c.1143T>G (p.Ala381=)
c.1092T>G (p.Ala364=)
c.945T>G (p.Ala315=)
c.1111+4799T>G (n.1111+4799T>G)
c.912T>G (p.Ala304=)
c.1164T>G (p.Ala388=)
c.1056T>G (p.Ala352=)
c.984T>G (p.Ala328=)
c.1140T>G (p.Ala380=)
c.825T>G (p.Ala275=)
6g.73610516A>GCA450914781SLC17A5c.1143T>C (p.Ala381=)
c.1092T>C (p.Ala364=)
c.945T>C (p.Ala315=)
c.1111+4799T>C (n.1111+4799T>C)
c.912T>C (p.Ala304=)
c.1164T>C (p.Ala388=)
c.1056T>C (p.Ala352=)
c.984T>C (p.Ala328=)
c.1140T>C (p.Ala380=)
c.825T>C (p.Ala275=)
6g.73610516A>TCA450914783SLC17A5c.1143T>A (p.Ala381=)
c.1092T>A (p.Ala364=)
c.945T>A (p.Ala315=)
c.1111+4799T>A (n.1111+4799T>A)
c.912T>A (p.Ala304=)
c.1164T>A (p.Ala388=)
c.1056T>A (p.Ala352=)
c.984T>A (p.Ala328=)
c.1140T>A (p.Ala380=)
c.825T>A (p.Ala275=)
6g.73610517delCA2679403542SLC17A5c.1142del (p.Ala381ValfsTer16)
c.1091del (p.Ala364ValfsTer16)
c.944del (p.Ala315ValfsTer16)
c.1111+4798del (n.1111+4798del)
c.911del (p.Ala304ValfsTer16)
c.1163del (p.Ala388ValfsTer16)
c.1055del (p.Ala352ValfsTer16)
c.983del (p.Ala328ValfsTer16)
c.1139del (p.Ala380ValfsTer16)
c.824del (p.Ala275ValfsTer16)
 gnomAD v4
6g.73610517G>ACA364721143SLC17A5c.1142C>T (p.Ala381Val)
c.1091C>T (p.Ala364Val)
c.944C>T (p.Ala315Val)
c.1111+4798C>T (n.1111+4798C>T)
c.911C>T (p.Ala304Val)
c.1163C>T (p.Ala388Val)
c.1055C>T (p.Ala352Val)
c.983C>T (p.Ala328Val)
c.1139C>T (p.Ala380Val)
c.824C>T (p.Ala275Val)
 dbSNP
6g.73610517G>CCA364721144SLC17A5c.1142C>G (p.Ala381Gly)
c.1091C>G (p.Ala364Gly)
c.944C>G (p.Ala315Gly)
c.1111+4798C>G (n.1111+4798C>G)
c.911C>G (p.Ala304Gly)
c.1163C>G (p.Ala388Gly)
c.1055C>G (p.Ala352Gly)
c.983C>G (p.Ala328Gly)
c.1139C>G (p.Ala380Gly)
c.824C>G (p.Ala275Gly)
6g.73610517G=CA1638229776SLC17A5c.1142C= (p.Ala381=)
c.1091C= (p.Ala364=)
c.944C= (p.Ala315=)
c.1111+4798C= (n.1111+4798C=)
c.911C= (p.Ala304=)
c.1163C= (p.Ala388=)
c.1055C= (p.Ala352=)
c.983C= (p.Ala328=)
c.1139C= (p.Ala380=)
c.824C= (p.Ala275=)
6g.73610517G>TCA364721145SLC17A5c.1142C>A (p.Ala381Asp)
c.1091C>A (p.Ala364Asp)
c.944C>A (p.Ala315Asp)
c.1111+4798C>A (n.1111+4798C>A)
c.911C>A (p.Ala304Asp)
c.1163C>A (p.Ala388Asp)
c.1055C>A (p.Ala352Asp)
c.983C>A (p.Ala328Asp)
c.1139C>A (p.Ala380Asp)
c.824C>A (p.Ala275Asp)
6g.73610518C>ACA364721146SLC17A5c.1141G>T (p.Ala381Ser)
c.1090G>T (p.Ala364Ser)
c.943G>T (p.Ala315Ser)
c.1111+4797G>T (n.1111+4797G>T)
c.910G>T (p.Ala304Ser)
c.1162G>T (p.Ala388Ser)
c.1054G>T (p.Ala352Ser)
c.982G>T (p.Ala328Ser)
c.1138G>T (p.Ala380Ser)
c.823G>T (p.Ala275Ser)
6g.73610518C=CA1638229777SLC17A5c.1141G= (p.Ala381=)
c.1090G= (p.Ala364=)
c.943G= (p.Ala315=)
c.1111+4797G= (n.1111+4797G=)
c.910G= (p.Ala304=)
c.1162G= (p.Ala388=)
c.1054G= (p.Ala352=)
c.982G= (p.Ala328=)
c.1138G= (p.Ala380=)
c.823G= (p.Ala275=)
6g.73610518C>GCA364721147SLC17A5c.1141G>C (p.Ala381Pro)
c.1090G>C (p.Ala364Pro)
c.943G>C (p.Ala315Pro)
c.1111+4797G>C (n.1111+4797G>C)
c.910G>C (p.Ala304Pro)
c.1162G>C (p.Ala388Pro)
c.1054G>C (p.Ala352Pro)
c.982G>C (p.Ala328Pro)
c.1138G>C (p.Ala380Pro)
c.823G>C (p.Ala275Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.73610518C>TCA364721148SLC17A5c.1141G>A (p.Ala381Thr)
c.1090G>A (p.Ala364Thr)
c.943G>A (p.Ala315Thr)
c.1111+4797G>A (n.1111+4797G>A)
c.910G>A (p.Ala304Thr)
c.1162G>A (p.Ala388Thr)
c.1054G>A (p.Ala352Thr)
c.982G>A (p.Ala328Thr)
c.1138G>A (p.Ala380Thr)
c.823G>A (p.Ala275Thr)
6g.73610519T>ACA450914790SLC17A5c.1140A>T (p.Val380=)
c.1089A>T (p.Val363=)
c.942A>T (p.Val314=)
c.1111+4796A>T (n.1111+4796A>T)
c.909A>T (p.Val303=)
c.1161A>T (p.Val387=)
c.1053A>T (p.Val351=)
c.981A>T (p.Val327=)
c.1137A>T (p.Val379=)
c.822A>T (p.Val274=)
6g.73610519T>CCA450914792SLC17A5c.1140A>G (p.Val380=)
c.1089A>G (p.Val363=)
c.942A>G (p.Val314=)
c.1111+4796A>G (n.1111+4796A>G)
c.909A>G (p.Val303=)
c.1161A>G (p.Val387=)
c.1053A>G (p.Val351=)
c.981A>G (p.Val327=)
c.1137A>G (p.Val379=)
c.822A>G (p.Val274=)
6g.73610519T>GCA450914793SLC17A5c.1140A>C (p.Val380=)
c.1089A>C (p.Val363=)
c.942A>C (p.Val314=)
c.1111+4796A>C (n.1111+4796A>C)
c.909A>C (p.Val303=)
c.1161A>C (p.Val387=)
c.1053A>C (p.Val351=)
c.981A>C (p.Val327=)
c.1137A>C (p.Val379=)
c.822A>C (p.Val274=)
 ClinVar dbSNP gnomAD v4
6g.73610519_73610521delinsTACCA1638229778SLC17A5c.1138_1140delinsGTA (p.Val380=)
c.1087_1089delinsGTA (p.Val363=)
c.940_942delinsGTA (p.Val314=)
c.1111+4794_1111+4796delinsGTA (n.1111+4794_1111+4796delinsGTA)
c.907_909delinsGTA (p.Val303=)
c.1159_1161delinsGTA (p.Val387=)
c.1051_1053delinsGTA (p.Val351=)
c.979_981delinsGTA (p.Val327=)
c.1135_1137delinsGTA (p.Val379=)
c.820_822delinsGTA (p.Val274=)
6g.73610520A>CCA364721149SLC17A5c.1139T>G (p.Val380Gly)
c.1088T>G (p.Val363Gly)
c.941T>G (p.Val314Gly)
c.1111+4795T>G (n.1111+4795T>G)
c.908T>G (p.Val303Gly)
c.1160T>G (p.Val387Gly)
c.1052T>G (p.Val351Gly)
c.980T>G (p.Val327Gly)
c.1136T>G (p.Val379Gly)
c.821T>G (p.Val274Gly)
6g.73610520A>GCA364721150SLC17A5c.1139T>C (p.Val380Ala)
c.1088T>C (p.Val363Ala)
c.941T>C (p.Val314Ala)
c.1111+4795T>C (n.1111+4795T>C)
c.908T>C (p.Val303Ala)
c.1160T>C (p.Val387Ala)
c.1052T>C (p.Val351Ala)
c.980T>C (p.Val327Ala)
c.1136T>C (p.Val379Ala)
c.821T>C (p.Val274Ala)
6g.73610520A>TCA364721151SLC17A5c.1139T>A (p.Val380Glu)
c.1088T>A (p.Val363Glu)
c.941T>A (p.Val314Glu)
c.1111+4795T>A (n.1111+4795T>A)
c.908T>A (p.Val303Glu)
c.1160T>A (p.Val387Glu)
c.1052T>A (p.Val351Glu)
c.980T>A (p.Val327Glu)
c.1136T>A (p.Val379Glu)
c.821T>A (p.Val274Glu)
6g.73610520_73610521delCA263920SLC17A5c.1138_1139del (p.Val380SerfsTer8)
c.1087_1088del (p.Val363SerfsTer8)
c.940_941del (p.Val314SerfsTer8)
c.1111+4794_1111+4795del (n.1111+4794_1111+4795del)
c.907_908del (p.Val303SerfsTer8)
c.1159_1160del (p.Val387SerfsTer8)
c.1051_1052del (p.Val351SerfsTer8)
c.979_980del (p.Val327SerfsTer8)
c.1135_1136del (p.Val379SerfsTer8)
c.820_821del (p.Val274SerfsTer8)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73610521C>ACA364721154SLC17A5c.1138G>T (p.Val380Leu)
c.1087G>T (p.Val363Leu)
c.940G>T (p.Val314Leu)
c.1111+4794G>T (n.1111+4794G>T)
c.907G>T (p.Val303Leu)
c.1159G>T (p.Val387Leu)
c.1051G>T (p.Val351Leu)
c.979G>T (p.Val327Leu)
c.1135G>T (p.Val379Leu)
c.820G>T (p.Val274Leu)
6g.73610521C=CA1638229779SLC17A5c.1138G= (p.Val380=)
c.1087G= (p.Val363=)
c.940G= (p.Val314=)
c.1111+4794G= (n.1111+4794G=)
c.907G= (p.Val303=)
c.1159G= (p.Val387=)
c.1051G= (p.Val351=)
c.979G= (p.Val327=)
c.1135G= (p.Val379=)
c.820G= (p.Val274=)
6g.73610521C>GCA364721153SLC17A5c.1138G>C (p.Val380Leu)
c.1087G>C (p.Val363Leu)
c.940G>C (p.Val314Leu)
c.1111+4794G>C (n.1111+4794G>C)
c.907G>C (p.Val303Leu)
c.1159G>C (p.Val387Leu)
c.1051G>C (p.Val351Leu)
c.979G>C (p.Val327Leu)
c.1135G>C (p.Val379Leu)
c.820G>C (p.Val274Leu)
6g.73610521C>TCA3890335SLC17A5c.1138G>A (p.Val380Ile)
c.1087G>A (p.Val363Ile)
c.940G>A (p.Val314Ile)
c.1111+4794G>A (n.1111+4794G>A)
c.907G>A (p.Val303Ile)
c.1159G>A (p.Val387Ile)
c.1051G>A (p.Val351Ile)
c.979G>A (p.Val327Ile)
c.1135G>A (p.Val379Ile)
c.820G>A (p.Val274Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73610521_73610522delCA364721152SLC17A5c.1137_1138del (p.Val380SerfsTer8)
c.1086_1087del (p.Val363SerfsTer8)
c.939_940del (p.Val314SerfsTer8)
c.1111+4793_1111+4794del (n.1111+4793_1111+4794del)
c.906_907del (p.Val303SerfsTer8)
c.1158_1159del (p.Val387SerfsTer8)
c.1050_1051del (p.Val351SerfsTer8)
c.978_979del (p.Val327SerfsTer8)
c.1134_1135del (p.Val379SerfsTer8)
c.819_820del (p.Val274SerfsTer8)
6g.73610522C>ACA450914800SLC17A5c.1137G>T (p.Leu379=)
c.1086G>T (p.Leu362=)
c.939G>T (p.Leu313=)
c.1111+4793G>T (n.1111+4793G>T)
c.906G>T (p.Leu302=)
c.1158G>T (p.Leu386=)
c.1050G>T (p.Leu350=)
c.978G>T (p.Leu326=)
c.1134G>T (p.Leu378=)
c.819G>T (p.Leu273=)
6g.73610522C=CA1638229780SLC17A5c.1137G= (p.Leu379=)
c.1086G= (p.Leu362=)
c.939G= (p.Leu313=)
c.1111+4793G= (n.1111+4793G=)
c.906G= (p.Leu302=)
c.1158G= (p.Leu386=)
c.1050G= (p.Leu350=)
c.978G= (p.Leu326=)
c.1134G= (p.Leu378=)
c.819G= (p.Leu273=)
6g.73610522C>GCA450914799SLC17A5c.1137G>C (p.Leu379=)
c.1086G>C (p.Leu362=)
c.939G>C (p.Leu313=)
c.1111+4793G>C (n.1111+4793G>C)
c.906G>C (p.Leu302=)
c.1158G>C (p.Leu386=)
c.1050G>C (p.Leu350=)
c.978G>C (p.Leu326=)
c.1134G>C (p.Leu378=)
c.819G>C (p.Leu273=)
 ClinVar
6g.73610522C>TCA450914798SLC17A5c.1137G>A (p.Leu379=)
c.1086G>A (p.Leu362=)
c.939G>A (p.Leu313=)
c.1111+4793G>A (n.1111+4793G>A)
c.906G>A (p.Leu302=)
c.1158G>A (p.Leu386=)
c.1050G>A (p.Leu350=)
c.978G>A (p.Leu326=)
c.1134G>A (p.Leu378=)
c.819G>A (p.Leu273=)
 ClinVar dbSNP COSMIC
6g.73610523A=CA1638229781SLC17A5c.1136T= (p.Leu379=)
c.1085T= (p.Leu362=)
c.938T= (p.Leu313=)
c.1111+4792T= (n.1111+4792T=)
c.905T= (p.Leu302=)
c.1157T= (p.Leu386=)
c.1049T= (p.Leu350=)
c.977T= (p.Leu326=)
c.1133T= (p.Leu378=)
c.818T= (p.Leu273=)
6g.73610523A>CCA364721155SLC17A5c.1136T>G (p.Leu379Arg)
c.1085T>G (p.Leu362Arg)
c.938T>G (p.Leu313Arg)
c.1111+4792T>G (n.1111+4792T>G)
c.905T>G (p.Leu302Arg)
c.1157T>G (p.Leu386Arg)
c.1049T>G (p.Leu350Arg)
c.977T>G (p.Leu326Arg)
c.1133T>G (p.Leu378Arg)
c.818T>G (p.Leu273Arg)
6g.73610523A>GCA364721156SLC17A5c.1136T>C (p.Leu379Pro)
c.1085T>C (p.Leu362Pro)
c.938T>C (p.Leu313Pro)
c.1111+4792T>C (n.1111+4792T>C)
c.905T>C (p.Leu302Pro)
c.1157T>C (p.Leu386Pro)
c.1049T>C (p.Leu350Pro)
c.977T>C (p.Leu326Pro)
c.1133T>C (p.Leu378Pro)
c.818T>C (p.Leu273Pro)
6g.73610523A>TCA3890336SLC17A5c.1136T>A (p.Leu379Gln)
c.1085T>A (p.Leu362Gln)
c.938T>A (p.Leu313Gln)
c.1111+4792T>A (n.1111+4792T>A)
c.905T>A (p.Leu302Gln)
c.1157T>A (p.Leu386Gln)
c.1049T>A (p.Leu350Gln)
c.977T>A (p.Leu326Gln)
c.1133T>A (p.Leu378Gln)
c.818T>A (p.Leu273Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73610524G>ACA450914805SLC17A5c.1135C>T (p.Leu379=)
c.1084C>T (p.Leu362=)
c.937C>T (p.Leu313=)
c.1111+4791C>T (n.1111+4791C>T)
c.904C>T (p.Leu302=)
c.1156C>T (p.Leu386=)
c.1048C>T (p.Leu350=)
c.976C>T (p.Leu326=)
c.1132C>T (p.Leu378=)
c.817C>T (p.Leu273=)
6g.73610524G>CCA364721157SLC17A5c.1135C>G (p.Leu379Val)
c.1084C>G (p.Leu362Val)
c.937C>G (p.Leu313Val)
c.1111+4791C>G (n.1111+4791C>G)
c.904C>G (p.Leu302Val)
c.1156C>G (p.Leu386Val)
c.1048C>G (p.Leu350Val)
c.976C>G (p.Leu326Val)
c.1132C>G (p.Leu378Val)
c.817C>G (p.Leu273Val)
6g.73610524G>TCA364721158SLC17A5c.1135C>A (p.Leu379Met)
c.1084C>A (p.Leu362Met)
c.937C>A (p.Leu313Met)
c.1111+4791C>A (n.1111+4791C>A)
c.904C>A (p.Leu302Met)
c.1156C>A (p.Leu386Met)
c.1048C>A (p.Leu350Met)
c.976C>A (p.Leu326Met)
c.1132C>A (p.Leu378Met)
c.817C>A (p.Leu273Met)
6g.73610525G>ACA450914806SLC17A5c.1134C>T (p.Phe378=)
c.1083C>T (p.Phe361=)
c.936C>T (p.Phe312=)
c.1111+4790C>T (n.1111+4790C>T)
c.903C>T (p.Phe301=)
c.1155C>T (p.Phe385=)
c.1047C>T (p.Phe349=)
c.975C>T (p.Phe325=)
c.1131C>T (p.Phe377=)
c.816C>T (p.Phe272=)
 gnomAD v4
6g.73610525G>CCA364721160SLC17A5c.1134C>G (p.Phe378Leu)
c.1083C>G (p.Phe361Leu)
c.936C>G (p.Phe312Leu)
c.1111+4790C>G (n.1111+4790C>G)
c.903C>G (p.Phe301Leu)
c.1155C>G (p.Phe385Leu)
c.1047C>G (p.Phe349Leu)
c.975C>G (p.Phe325Leu)
c.1131C>G (p.Phe377Leu)
c.816C>G (p.Phe272Leu)
6g.73610525G>TCA364721159SLC17A5c.1134C>A (p.Phe378Leu)
c.1083C>A (p.Phe361Leu)
c.936C>A (p.Phe312Leu)
c.1111+4790C>A (n.1111+4790C>A)
c.903C>A (p.Phe301Leu)
c.1155C>A (p.Phe385Leu)
c.1047C>A (p.Phe349Leu)
c.975C>A (p.Phe325Leu)
c.1131C>A (p.Phe377Leu)
c.816C>A (p.Phe272Leu)
6g.73610526A>CCA364721161SLC17A5c.1133T>G (p.Phe378Cys)
c.1082T>G (p.Phe361Cys)
c.935T>G (p.Phe312Cys)
c.1111+4789T>G (n.1111+4789T>G)
c.902T>G (p.Phe301Cys)
c.1154T>G (p.Phe385Cys)
c.1046T>G (p.Phe349Cys)
c.974T>G (p.Phe325Cys)
c.1130T>G (p.Phe377Cys)
c.815T>G (p.Phe272Cys)
6g.73610526A>GCA364721162SLC17A5c.1133T>C (p.Phe378Ser)
c.1082T>C (p.Phe361Ser)
c.935T>C (p.Phe312Ser)
c.1111+4789T>C (n.1111+4789T>C)
c.902T>C (p.Phe301Ser)
c.1154T>C (p.Phe385Ser)
c.1046T>C (p.Phe349Ser)
c.974T>C (p.Phe325Ser)
c.1130T>C (p.Phe377Ser)
c.815T>C (p.Phe272Ser)
6g.73610526A>TCA364721163SLC17A5c.1133T>A (p.Phe378Tyr)
c.1082T>A (p.Phe361Tyr)
c.935T>A (p.Phe312Tyr)
c.1111+4789T>A (n.1111+4789T>A)
c.902T>A (p.Phe301Tyr)
c.1154T>A (p.Phe385Tyr)
c.1046T>A (p.Phe349Tyr)
c.974T>A (p.Phe325Tyr)
c.1130T>A (p.Phe377Tyr)
c.815T>A (p.Phe272Tyr)
6g.73610527A>CCA364721164SLC17A5c.1132T>G (p.Phe378Val)
c.1081T>G (p.Phe361Val)
c.934T>G (p.Phe312Val)
c.1111+4788T>G (n.1111+4788T>G)
c.901T>G (p.Phe301Val)
c.1153T>G (p.Phe385Val)
c.1045T>G (p.Phe349Val)
c.973T>G (p.Phe325Val)
c.1129T>G (p.Phe377Val)
c.814T>G (p.Phe272Val)
6g.73610527A>GCA364721165SLC17A5c.1132T>C (p.Phe378Leu)
c.1081T>C (p.Phe361Leu)
c.934T>C (p.Phe312Leu)
c.1111+4788T>C (n.1111+4788T>C)
c.901T>C (p.Phe301Leu)
c.1153T>C (p.Phe385Leu)
c.1045T>C (p.Phe349Leu)
c.973T>C (p.Phe325Leu)
c.1129T>C (p.Phe377Leu)
c.814T>C (p.Phe272Leu)
 COSMIC
6g.73610527A>TCA364721166SLC17A5c.1132T>A (p.Phe378Ile)
c.1081T>A (p.Phe361Ile)
c.934T>A (p.Phe312Ile)
c.1111+4788T>A (n.1111+4788T>A)
c.901T>A (p.Phe301Ile)
c.1153T>A (p.Phe385Ile)
c.1045T>A (p.Phe349Ile)
c.973T>A (p.Phe325Ile)
c.1129T>A (p.Phe377Ile)
c.814T>A (p.Phe272Ile)
6g.73610528T>ACA450914815SLC17A5c.1131A>T (p.Val377=)
c.1080A>T (p.Val360=)
c.933A>T (p.Val311=)
c.1111+4787A>T (n.1111+4787A>T)
c.900A>T (p.Val300=)
c.1152A>T (p.Val384=)
c.1044A>T (p.Val348=)
c.972A>T (p.Val324=)
c.1128A>T (p.Val376=)
c.813A>T (p.Val271=)
 ClinVar
6g.73610528T>CCA450914817SLC17A5c.1131A>G (p.Val377=)
c.1080A>G (p.Val360=)
c.933A>G (p.Val311=)
c.1111+4787A>G (n.1111+4787A>G)
c.900A>G (p.Val300=)
c.1152A>G (p.Val384=)
c.1044A>G (p.Val348=)
c.972A>G (p.Val324=)
c.1128A>G (p.Val376=)
c.813A>G (p.Val271=)
 ClinVar dbSNP
6g.73610528T>GCA450914819SLC17A5c.1131A>C (p.Val377=)
c.1080A>C (p.Val360=)
c.933A>C (p.Val311=)
c.1111+4787A>C (n.1111+4787A>C)
c.900A>C (p.Val300=)
c.1152A>C (p.Val384=)
c.1044A>C (p.Val348=)
c.972A>C (p.Val324=)
c.1128A>C (p.Val376=)
c.813A>C (p.Val271=)
6g.73610529A>CCA364721167SLC17A5c.1130T>G (p.Val377Gly)
c.1079T>G (p.Val360Gly)
c.932T>G (p.Val311Gly)
c.1111+4786T>G (n.1111+4786T>G)
c.899T>G (p.Val300Gly)
c.1151T>G (p.Val384Gly)
c.1043T>G (p.Val348Gly)
c.971T>G (p.Val324Gly)
c.1127T>G (p.Val376Gly)
c.812T>G (p.Val271Gly)
6g.73610529A>GCA364721169SLC17A5c.1130T>C (p.Val377Ala)
c.1079T>C (p.Val360Ala)
c.932T>C (p.Val311Ala)
c.1111+4786T>C (n.1111+4786T>C)
c.899T>C (p.Val300Ala)
c.1151T>C (p.Val384Ala)
c.1043T>C (p.Val348Ala)
c.971T>C (p.Val324Ala)
c.1127T>C (p.Val376Ala)
c.812T>C (p.Val271Ala)
6g.73610529A>TCA364721168SLC17A5c.1130T>A (p.Val377Glu)
c.1079T>A (p.Val360Glu)
c.932T>A (p.Val311Glu)
c.1111+4786T>A (n.1111+4786T>A)
c.899T>A (p.Val300Glu)
c.1151T>A (p.Val384Glu)
c.1043T>A (p.Val348Glu)
c.971T>A (p.Val324Glu)
c.1127T>A (p.Val376Glu)
c.812T>A (p.Val271Glu)
6g.73610530C>ACA364721170SLC17A5c.1129G>T (p.Val377Leu)
c.1078G>T (p.Val360Leu)
c.931G>T (p.Val311Leu)
c.1111+4785G>T (n.1111+4785G>T)
c.898G>T (p.Val300Leu)
c.1150G>T (p.Val384Leu)
c.1042G>T (p.Val348Leu)
c.970G>T (p.Val324Leu)
c.1126G>T (p.Val376Leu)
c.811G>T (p.Val271Leu)
6g.73610530C>GCA364721171SLC17A5c.1129G>C (p.Val377Leu)
c.1078G>C (p.Val360Leu)
c.931G>C (p.Val311Leu)
c.1111+4785G>C (n.1111+4785G>C)
c.898G>C (p.Val300Leu)
c.1150G>C (p.Val384Leu)
c.1042G>C (p.Val348Leu)
c.970G>C (p.Val324Leu)
c.1126G>C (p.Val376Leu)
c.811G>C (p.Val271Leu)
6g.73610530C>TCA364721172SLC17A5c.1129G>A (p.Val377Ile)
c.1078G>A (p.Val360Ile)
c.931G>A (p.Val311Ile)
c.1111+4785G>A (n.1111+4785G>A)
c.898G>A (p.Val300Ile)
c.1150G>A (p.Val384Ile)
c.1042G>A (p.Val348Ile)
c.970G>A (p.Val324Ile)
c.1126G>A (p.Val376Ile)
c.811G>A (p.Val271Ile)
6g.73610531T>ACA450914824SLC17A5c.1128A>T (p.Ala376=)
c.1077A>T (p.Ala359=)
c.930A>T (p.Ala310=)
c.1111+4784A>T (n.1111+4784A>T)
c.897A>T (p.Ala299=)
c.1149A>T (p.Ala383=)
c.1041A>T (p.Ala347=)
c.969A>T (p.Ala323=)
c.1125A>T (p.Ala375=)
c.810A>T (p.Ala270=)
6g.73610531T>CCA450914826SLC17A5c.1128A>G (p.Ala376=)
c.1077A>G (p.Ala359=)
c.930A>G (p.Ala310=)
c.1111+4784A>G (n.1111+4784A>G)
c.897A>G (p.Ala299=)
c.1149A>G (p.Ala383=)
c.1041A>G (p.Ala347=)
c.969A>G (p.Ala323=)
c.1125A>G (p.Ala375=)
c.810A>G (p.Ala270=)
 dbSNP gnomAD v3 gnomAD v4
6g.73610531T>GCA450914827SLC17A5c.1128A>C (p.Ala376=)
c.1077A>C (p.Ala359=)
c.930A>C (p.Ala310=)
c.1111+4784A>C (n.1111+4784A>C)
c.897A>C (p.Ala299=)
c.1149A>C (p.Ala383=)
c.1041A>C (p.Ala347=)
c.969A>C (p.Ala323=)
c.1125A>C (p.Ala375=)
c.810A>C (p.Ala270=)
6g.73610531T=CA1638229783SLC17A5c.1128A= (p.Ala376=)
c.1077A= (p.Ala359=)
c.930A= (p.Ala310=)
c.1111+4784A= (n.1111+4784A=)
c.897A= (p.Ala299=)
c.1149A= (p.Ala383=)
c.1041A= (p.Ala347=)
c.969A= (p.Ala323=)
c.1125A= (p.Ala375=)
c.810A= (p.Ala270=)
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)

Number of alleles fetched