Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189563750_189563751insCAGGATTTGTGGCACCTTCTGACTGTCAAACTGTTCTTGTCAATCTCACGGTAGGTGTAATTGACTCTCCTTGAATGCA2499215545SLC40A1c.1263_1264insGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTCAATTACACCTACC (p.Lys422ValfsTer8)
c.1143_1144insGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTCAATTACACCTACC (p.Lys382ValfsTer8)
 ClinVar dbSNP
2g.189563750_189563751insCAGGATTTGTGGCACCTTCTGACTGTCAAACTGTTCTTGTCGACTCTCCTTGAATGCA2499215546SLC40A1c.1250_1251insGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTC (p.Ile418ThrfsTer5)
c.1130_1131insGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTC (p.Ile378ThrfsTer5)
 ClinVar dbSNP
2g.189563741T>ACA430367287SLC40A1c.1245A>T (p.Gly415=)
c.1125A>T (p.Gly375=)
2g.189563741T>CCA430367288SLC40A1c.1245A>G (p.Gly415=)
c.1125A>G (p.Gly375=)
2g.189563741T>GCA430367289SLC40A1c.1245A>C (p.Gly415=)
c.1125A>C (p.Gly375=)
2g.189563742C>ACA349987437SLC40A1c.1244G>T (p.Gly415Val)
c.1124G>T (p.Gly375Val)
2g.189563742C>GCA349987438SLC40A1c.1244G>C (p.Gly415Ala)
c.1124G>C (p.Gly375Ala)
2g.189563742C>TCA349987439SLC40A1c.1244G>A (p.Gly415Glu)
c.1124G>A (p.Gly375Glu)
2g.189563743delCA2662328577SLC40A1c.1244del (p.Gly415GlufsTer?)
c.1124del (p.Gly375GlufsTer?)
 gnomAD v4
2g.189563743C>ACA349987440SLC40A1c.1243G>T (p.Gly415Ter)
c.1123G>T (p.Gly375Ter)
2g.189563743C>GCA349987441SLC40A1c.1243G>C (p.Gly415Arg)
c.1123G>C (p.Gly375Arg)
2g.189563743C>TCA349987442SLC40A1c.1243G>A (p.Gly415Arg)
c.1123G>A (p.Gly375Arg)
2g.189563744T>ACA349987443SLC40A1c.1242A>T (p.Gln414His)
c.1122A>T (p.Gln374His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563744T>CCA430367290SLC40A1c.1242A>G (p.Gln414=)
c.1122A>G (p.Gln374=)
2g.189563744T>GCA349987444SLC40A1c.1242A>C (p.Gln414His)
c.1122A>C (p.Gln374His)
2g.189563744T=CA1315653973SLC40A1c.1242A= (p.Gln414=)
c.1122A= (p.Gln374=)
2g.189563745T>ACA349987445SLC40A1c.1241A>T (p.Gln414Leu)
c.1121A>T (p.Gln374Leu)
2g.189563745T>CCA349987446SLC40A1c.1241A>G (p.Gln414Arg)
c.1121A>G (p.Gln374Arg)
2g.189563745T>GCA349987447SLC40A1c.1241A>C (p.Gln414Pro)
c.1121A>C (p.Gln374Pro)
2g.189563750_189563813dupCA2607006871SLC40A1c.1178_1241dup (p.Gln414HisfsTer14)
c.1058_1121dup (p.Gln374HisfsTer14)
 gnomAD v3 gnomAD v4
2g.189563746G>ACA349987448SLC40A1c.1240C>T (p.Gln414Ter)
c.1120C>T (p.Gln374Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.189563746G>CCA349987450SLC40A1c.1240C>G (p.Gln414Glu)
c.1120C>G (p.Gln374Glu)
2g.189563746G=CA1315653974SLC40A1c.1240C= (p.Gln414=)
c.1120C= (p.Gln374=)
2g.189563746G>TCA349987449SLC40A1c.1240C>A (p.Gln414Lys)
c.1120C>A (p.Gln374Lys)
2g.189563747A>CCA349987451SLC40A1c.1239T>G (p.Ile413Met)
c.1119T>G (p.Ile373Met)
2g.189563747A>GCA430367292SLC40A1c.1239T>C (p.Ile413=)
c.1119T>C (p.Ile373=)
2g.189563747A>TCA430367293SLC40A1c.1239T>A (p.Ile413=)
c.1119T>A (p.Ile373=)
2g.189563748A>CCA349987454SLC40A1c.1238T>G (p.Ile413Ser)
c.1118T>G (p.Ile373Ser)
2g.189563748A>GCA349987452SLC40A1c.1238T>C (p.Ile413Thr)
c.1118T>C (p.Ile373Thr)
2g.189563748A>TCA349987453SLC40A1c.1238T>A (p.Ile413Asn)
c.1118T>A (p.Ile373Asn)
2g.189563749T>ACA349987455SLC40A1c.1237A>T (p.Ile413Phe)
c.1117A>T (p.Ile373Phe)
2g.189563749T>CCA349987456SLC40A1c.1237A>G (p.Ile413Val)
c.1117A>G (p.Ile373Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563749T>GCA349987457SLC40A1c.1237A>C (p.Ile413Leu)
c.1117A>C (p.Ile373Leu)
2g.189563749T=CA1315653976SLC40A1c.1237A= (p.Ile413=)
c.1117A= (p.Ile373=)
2g.189563750G>ACA430367294SLC40A1c.1236C>T (p.Phe412=)
c.1116C>T (p.Phe372=)
2g.189563750G>CCA349987458SLC40A1c.1236C>G (p.Phe412Leu)
c.1116C>G (p.Phe372Leu)
2g.189563750G=CA1315653979SLC40A1c.1236C= (p.Phe412=)
c.1116C= (p.Phe372=)
2g.189563750G>TCA349987459SLC40A1c.1236C>A (p.Phe412Leu)
c.1116C>A (p.Phe372Leu)
 dbSNP COSMIC
2g.189563751A>CCA349987460SLC40A1c.1235T>G (p.Phe412Cys)
c.1115T>G (p.Phe372Cys)
2g.189563751A>GCA349987461SLC40A1c.1235T>C (p.Phe412Ser)
c.1115T>C (p.Phe372Ser)
2g.189563751A>TCA349987462SLC40A1c.1235T>A (p.Phe412Tyr)
c.1115T>A (p.Phe372Tyr)
 COSMIC
2g.189563752A=CA1315653982SLC40A1c.1234T= (p.Phe412=)
c.1114T= (p.Phe372=)
2g.189563752A>CCA349987463SLC40A1c.1234T>G (p.Phe412Val)
c.1114T>G (p.Phe372Val)
2g.189563752A>GCA349987464SLC40A1c.1234T>C (p.Phe412Leu)
c.1114T>C (p.Phe372Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.189563752A>TCA349987465SLC40A1c.1234T>A (p.Phe412Ile)
c.1114T>A (p.Phe372Ile)
2g.189563753C>ACA349987466SLC40A1c.1233G>T (p.Arg411Ser)
c.1113G>T (p.Arg371Ser)
 gnomAD v4
2g.189563753C>GCA349987467SLC40A1c.1233G>C (p.Arg411Ser)
c.1113G>C (p.Arg371Ser)
2g.189563753C>TCA430367295SLC40A1c.1233G>A (p.Arg411=)
c.1113G>A (p.Arg371=)
2g.189563754C>ACA349987468SLC40A1c.1232G>T (p.Arg411Met)
c.1112G>T (p.Arg371Met)
2g.189563754C>GCA349987469SLC40A1c.1232G>C (p.Arg411Thr)
c.1112G>C (p.Arg371Thr)
2g.189563754C>TCA349987470SLC40A1c.1232G>A (p.Arg411Lys)
c.1112G>A (p.Arg371Lys)
2g.189563755T>ACA349987471SLC40A1c.1231A>T (p.Arg411Trp)
c.1111A>T (p.Arg371Trp)
2g.189563755T>CCA349987472SLC40A1c.1231A>G (p.Arg411Gly)
c.1111A>G (p.Arg371Gly)
2g.189563755T>GCA430367296SLC40A1c.1231A>C (p.Arg411=)
c.1111A>C (p.Arg371=)
2g.189563756T>ACA430367299SLC40A1c.1230A>T (p.Ser410=)
c.1110A>T (p.Ser370=)
2g.189563756T>CCA430367298SLC40A1c.1230A>G (p.Ser410=)
c.1110A>G (p.Ser370=)
2g.189563756T>GCA430367297SLC40A1c.1230A>C (p.Ser410=)
c.1110A>C (p.Ser370=)
 gnomAD v4
2g.189563757G>ACA349987473SLC40A1c.1229C>T (p.Ser410Leu)
c.1109C>T (p.Ser370Leu)
2g.189563757G>CCA349987474SLC40A1c.1229C>G (p.Ser410Ter)
c.1109C>G (p.Ser370Ter)
2g.189563757G=CA1315653983SLC40A1c.1229C= (p.Ser410=)
c.1109C= (p.Ser370=)
2g.189563757G>TCA349987475SLC40A1c.1229C>A (p.Ser410Ter)
c.1109C>A (p.Ser370Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.189563758A>CCA349987476SLC40A1c.1228T>G (p.Ser410Ala)
c.1108T>G (p.Ser370Ala)
2g.189563758A>GCA349987477SLC40A1c.1228T>C (p.Ser410Pro)
c.1108T>C (p.Ser370Pro)
2g.189563758A>TCA349987478SLC40A1c.1228T>A (p.Ser410Thr)
c.1108T>A (p.Ser370Thr)
2g.189563759T>ACA430367302SLC40A1c.1227A>T (p.Arg409=)
c.1107A>T (p.Arg369=)
2g.189563759T>CCA430367301SLC40A1c.1227A>G (p.Arg409=)
c.1107A>G (p.Arg369=)
 gnomAD v4
2g.189563759T>GCA430367300SLC40A1c.1227A>C (p.Arg409=)
c.1107A>C (p.Arg369=)
 dbSNP
2g.189563759T=CA1315653986SLC40A1c.1227A= (p.Arg409=)
c.1107A= (p.Arg369=)
2g.189563760C>ACA349987479SLC40A1c.1226G>T (p.Arg409Leu)
c.1106G>T (p.Arg369Leu)
 gnomAD v4
2g.189563760C=CA1315653989SLC40A1c.1226G= (p.Arg409=)
c.1106G= (p.Arg369=)
2g.189563760C>GCA349987480SLC40A1c.1226G>C (p.Arg409Pro)
c.1106G>C (p.Arg369Pro)
2g.189563760C>TCA2024100SLC40A1c.1226G>A (p.Arg409Gln)
c.1106G>A (p.Arg369Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563761G>ACA349987481SLC40A1c.1225C>T (p.Arg409Ter)
c.1105C>T (p.Arg369Ter)
 dbSNP gnomAD v4
2g.189563761G>CCA2024101SLC40A1c.1225C>G (p.Arg409Gly)
c.1105C>G (p.Arg369Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563761G=CA1315653994SLC40A1c.1225C= (p.Arg409=)
c.1105C= (p.Arg369=)
2g.189563761G>TCA2024102SLC40A1c.1225C>A (p.Arg409=)
c.1105C>A (p.Arg369=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563762G>ACA430367303SLC40A1c.1224C>T (p.Ile408=)
c.1104C>T (p.Ile368=)
 gnomAD v4
2g.189563762G>CCA349987482SLC40A1c.1224C>G (p.Ile408Met)
c.1104C>G (p.Ile368Met)
 dbSNP
2g.189563762G=CA1315653997SLC40A1c.1224C= (p.Ile408=)
c.1104C= (p.Ile368=)
2g.189563762G>TCA430367304SLC40A1c.1224C>A (p.Ile408=)
c.1104C>A (p.Ile368=)
2g.189563763delCA2577188083SLC40A1c.1223del (p.Ile408ThrfsTer?)
c.1103del (p.Ile368ThrfsTer?)
2g.189563763A=CA1315653999SLC40A1c.1223T= (p.Ile408=)
c.1103T= (p.Ile368=)
2g.189563763A>CCA349987483SLC40A1c.1223T>G (p.Ile408Ser)
c.1103T>G (p.Ile368Ser)
2g.189563763A>GCA2024103SLC40A1c.1223T>C (p.Ile408Thr)
c.1103T>C (p.Ile368Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563763A>TCA349987484SLC40A1c.1223T>A (p.Ile408Asn)
c.1103T>A (p.Ile368Asn)
 gnomAD v4
2g.189563764T>ACA2024104SLC40A1c.1222A>T (p.Ile408Phe)
c.1102A>T (p.Ile368Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563764T>CCA349987485SLC40A1c.1222A>G (p.Ile408Val)
c.1102A>G (p.Ile368Val)
2g.189563764T>GCA349987486SLC40A1c.1222A>C (p.Ile408Leu)
c.1102A>C (p.Ile368Leu)
2g.189563764T=CA1315654001SLC40A1c.1222A= (p.Ile408=)
c.1102A= (p.Ile368=)
2g.189563765A>CCA349987487SLC40A1c.1221T>G (p.Asp407Glu)
c.1101T>G (p.Asp367Glu)
2g.189563765A>GCA430367305SLC40A1c.1221T>C (p.Asp407=)
c.1101T>C (p.Asp367=)
2g.189563765A>TCA349987488SLC40A1c.1221T>A (p.Asp407Glu)
c.1101T>A (p.Asp367Glu)
2g.189563766T>ACA349987490SLC40A1c.1220A>T (p.Asp407Val)
c.1100A>T (p.Asp367Val)
2g.189563766T>CCA349987491SLC40A1c.1220A>G (p.Asp407Gly)
c.1100A>G (p.Asp367Gly)
2g.189563766T>GCA349987489SLC40A1c.1220A>C (p.Asp407Ala)
c.1100A>C (p.Asp367Ala)
2g.189563767C>ACA349987492SLC40A1c.1219G>T (p.Asp407Tyr)
c.1099G>T (p.Asp367Tyr)
2g.189563767C>GCA349987493SLC40A1c.1219G>C (p.Asp407His)
c.1099G>C (p.Asp367His)
2g.189563767C>TCA349987494SLC40A1c.1219G>A (p.Asp407Asn)
c.1099G>A (p.Asp367Asn)
2g.189563768T>ACA349987495SLC40A1c.1218A>T (p.Glu406Asp)
c.1098A>T (p.Glu366Asp)
2g.189563768T>CCA430367306SLC40A1c.1218A>G (p.Glu406=)
c.1098A>G (p.Glu366=)
 gnomAD v4
2g.189563768T>GCA349987496SLC40A1c.1218A>C (p.Glu406Asp)
c.1098A>C (p.Glu366Asp)
2g.189563769T>ACA349987499SLC40A1c.1217A>T (p.Glu406Val)
c.1097A>T (p.Glu366Val)
2g.189563769T>CCA349987497SLC40A1c.1217A>G (p.Glu406Gly)
c.1097A>G (p.Glu366Gly)
2g.189563769T>GCA349987498SLC40A1c.1217A>C (p.Glu406Ala)
c.1097A>C (p.Glu366Ala)
2g.189563770C>ACA349987500SLC40A1c.1216G>T (p.Glu406Ter)
c.1096G>T (p.Glu366Ter)
2g.189563770C=CA1315654005SLC40A1c.1216G= (p.Glu406=)
c.1096G= (p.Glu366=)
2g.189563770C>GCA349987501SLC40A1c.1216G>C (p.Glu406Gln)
c.1096G>C (p.Glu366Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.189563770C>TCA349987502SLC40A1c.1216G>A (p.Glu406Lys)
c.1096G>A (p.Glu366Lys)
2g.189563770_189563771delinsCACA1315654007SLC40A1c.1215_1216delinsTG (p.Phe405=)
c.1095_1096delinsTG (p.Phe365=)
2g.189563771A>CCA349987503SLC40A1c.1215T>G (p.Phe405Leu)
c.1095T>G (p.Phe365Leu)
2g.189563771A>GCA430367307SLC40A1c.1215T>C (p.Phe405=)
c.1095T>C (p.Phe365=)
2g.189563771A>TCA349987504SLC40A1c.1215T>A (p.Phe405Leu)
c.1095T>A (p.Phe365Leu)
2g.189563774delCA1040449931SLC40A1c.1215del (p.Phe405LeufsTer?)
c.1095del (p.Phe365LeufsTer?)
 dbSNP gnomAD v3 gnomAD v4
2g.189563772A=CA1315654012SLC40A1c.1214T= (p.Phe405=)
c.1094T= (p.Phe365=)
2g.189563772A>CCA349987505SLC40A1c.1214T>G (p.Phe405Cys)
c.1094T>G (p.Phe365Cys)
2g.189563772A>GCA62902887SLC40A1c.1214T>C (p.Phe405Ser)
c.1094T>C (p.Phe365Ser)
 dbSNP
2g.189563772A>TCA349987506SLC40A1c.1214T>A (p.Phe405Tyr)
c.1094T>A (p.Phe365Tyr)
2g.189563773A>CCA349987507SLC40A1c.1213T>G (p.Phe405Val)
c.1093T>G (p.Phe365Val)
2g.189563773A>GCA349987509SLC40A1c.1213T>C (p.Phe405Leu)
c.1093T>C (p.Phe365Leu)
 gnomAD v4
2g.189563773A>TCA349987508SLC40A1c.1213T>A (p.Phe405Ile)
c.1093T>A (p.Phe365Ile)
2g.189563774A>CCA430367308SLC40A1c.1212T>G (p.Pro404=)
c.1092T>G (p.Pro364=)
2g.189563774A>GCA430367309SLC40A1c.1212T>C (p.Pro404=)
c.1092T>C (p.Pro364=)
2g.189563774A>TCA430367310SLC40A1c.1212T>A (p.Pro404=)
c.1092T>A (p.Pro364=)
2g.189563775G>ACA349987510SLC40A1c.1211C>T (p.Pro404Leu)
c.1091C>T (p.Pro364Leu)
2g.189563775G>CCA349987512SLC40A1c.1211C>G (p.Pro404Arg)
c.1091C>G (p.Pro364Arg)
2g.189563775G>TCA349987511SLC40A1c.1211C>A (p.Pro404His)
c.1091C>A (p.Pro364His)
2g.189563776G>ACA349987513SLC40A1c.1210C>T (p.Pro404Ser)
c.1090C>T (p.Pro364Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.189563776G>CCA349987514SLC40A1c.1210C>G (p.Pro404Ala)
c.1090C>G (p.Pro364Ala)
2g.189563776G=CA1315654015SLC40A1c.1210C= (p.Pro404=)
c.1090C= (p.Pro364=)
2g.189563776G>TCA2024105SLC40A1c.1210C>A (p.Pro404Thr)
c.1090C>A (p.Pro364Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563777A=CA1315654020SLC40A1c.1209T= (p.Ser403=)
c.1089T= (p.Ser363=)
2g.189563777A>CCA430367313SLC40A1c.1209T>G (p.Ser403=)
c.1089T>G (p.Ser363=)
2g.189563777A>GCA430367312SLC40A1c.1209T>C (p.Ser403=)
c.1089T>C (p.Ser363=)
 dbSNP gnomAD v2 gnomAD v4
2g.189563777A>TCA430367311SLC40A1c.1209T>A (p.Ser403=)
c.1089T>A (p.Ser363=)
2g.189563778G>ACA349987515SLC40A1c.1208C>T (p.Ser403Phe)
c.1088C>T (p.Ser363Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563778G>CCA349987516SLC40A1c.1208C>G (p.Ser403Cys)
c.1088C>G (p.Ser363Cys)
2g.189563778G=CA1315654024SLC40A1c.1208C= (p.Ser403=)
c.1088C= (p.Ser363=)
2g.189563778G>TCA62902888SLC40A1c.1208C>A (p.Ser403Tyr)
c.1088C>A (p.Ser363Tyr)
 dbSNP
2g.189563779A>CCA349987517SLC40A1c.1207T>G (p.Ser403Ala)
c.1087T>G (p.Ser363Ala)
2g.189563779A>GCA349987518SLC40A1c.1207T>C (p.Ser403Pro)
c.1087T>C (p.Ser363Pro)
2g.189563779A>TCA349987519SLC40A1c.1207T>A (p.Ser403Thr)
c.1087T>A (p.Ser363Thr)
2g.189563780A>CCA430502702SLC40A1c.1206T>G (p.Val402=)
c.1086T>G (p.Val362=)
2g.189563780A>GCA430502703SLC40A1c.1206T>C (p.Val402=)
c.1086T>C (p.Val362=)
2g.189563780A>TCA430502705SLC40A1c.1206T>A (p.Val402=)
c.1086T>A (p.Val362=)
2g.189563781A>CCA349987520SLC40A1c.1205T>G (p.Val402Gly)
c.1085T>G (p.Val362Gly)
2g.189563781A>GCA349987521SLC40A1c.1205T>C (p.Val402Ala)
c.1085T>C (p.Val362Ala)
2g.189563781A>TCA349987522SLC40A1c.1205T>A (p.Val402Asp)
c.1085T>A (p.Val362Asp)
2g.189563782C>ACA62902889SLC40A1c.1204G>T (p.Val402Phe)
c.1084G>T (p.Val362Phe)
 dbSNP gnomAD v4
2g.189563782C=CA1315654028SLC40A1c.1204G= (p.Val402=)
c.1084G= (p.Val362=)
2g.189563782C>GCA349987523SLC40A1c.1204G>C (p.Val402Leu)
c.1084G>C (p.Val362Leu)
2g.189563782C>TCA2024106SLC40A1c.1204G>A (p.Val402Ile)
c.1084G>A (p.Val362Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189563783G>ACA2024107SLC40A1c.1203C>T (p.Ser401=)
c.1083C>T (p.Ser361=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189563783G>CCA430502714SLC40A1c.1203C>G (p.Ser401=)
c.1083C>G (p.Ser361=)
 dbSNP gnomAD v2 gnomAD v4
2g.189563783G=CA1315654034SLC40A1c.1203C= (p.Ser401=)
c.1083C= (p.Ser361=)
2g.189563783G>TCA430502713SLC40A1c.1203C>A (p.Ser401=)
c.1083C>A (p.Ser361=)
2g.189563784G>ACA349987524SLC40A1c.1202C>T (p.Ser401Phe)
c.1082C>T (p.Ser361Phe)
2g.189563784G>CCA349987525SLC40A1c.1202C>G (p.Ser401Cys)
c.1082C>G (p.Ser361Cys)
2g.189563784G>TCA349987526SLC40A1c.1202C>A (p.Ser401Tyr)
c.1082C>A (p.Ser361Tyr)
2g.189563785A>CCA349987527SLC40A1c.1201T>G (p.Ser401Ala)
c.1081T>G (p.Ser361Ala)
2g.189563785A>GCA349987528SLC40A1c.1201T>C (p.Ser401Pro)
c.1081T>C (p.Ser361Pro)
2g.189563785A>TCA349987529SLC40A1c.1201T>A (p.Ser401Thr)
c.1081T>A (p.Ser361Thr)
2g.189563786C>ACA349987530SLC40A1c.1200G>T (p.Leu400Phe)
c.1080G>T (p.Leu360Phe)
 gnomAD v4
2g.189563786C>GCA349987531SLC40A1c.1200G>C (p.Leu400Phe)
c.1080G>C (p.Leu360Phe)
 gnomAD v4
2g.189563786C>TCA430502727SLC40A1c.1200G>A (p.Leu400=)
c.1080G>A (p.Leu360=)
2g.189563787A>CCA349987532SLC40A1c.1199T>G (p.Leu400Trp)
c.1079T>G (p.Leu360Trp)
2g.189563787A>GCA349987533SLC40A1c.1199T>C (p.Leu400Ser)
c.1079T>C (p.Leu360Ser)
2g.189563787A>TCA349987534SLC40A1c.1199T>A (p.Leu400Ter)
c.1079T>A (p.Leu360Ter)
2g.189563788A>CCA349987536SLC40A1c.1198T>G (p.Leu400Val)
c.1078T>G (p.Leu360Val)
2g.189563788A>GCA430502733SLC40A1c.1198T>C (p.Leu400=)
c.1078T>C (p.Leu360=)
2g.189563788A>TCA349987535SLC40A1c.1198T>A (p.Leu400Met)
c.1078T>A (p.Leu360Met)
2g.189563789G>ACA430502734SLC40A1c.1197C>T (p.Asp399=)
c.1077C>T (p.Asp359=)
2g.189563789G>CCA349987537SLC40A1c.1197C>G (p.Asp399Glu)
c.1077C>G (p.Asp359Glu)
 gnomAD v4
2g.189563789G>TCA349987538SLC40A1c.1197C>A (p.Asp399Glu)
c.1077C>A (p.Asp359Glu)
2g.189563790T>ACA349987539SLC40A1c.1196A>T (p.Asp399Val)
c.1076A>T (p.Asp359Val)
2g.189563790T>CCA349987540SLC40A1c.1196A>G (p.Asp399Gly)
c.1076A>G (p.Asp359Gly)
2g.189563790T>GCA349987541SLC40A1c.1196A>C (p.Asp399Ala)
c.1076A>C (p.Asp359Ala)
2g.189563791C>ACA349987542SLC40A1c.1195G>T (p.Asp399Tyr)
c.1075G>T (p.Asp359Tyr)
2g.189563791C>GCA349987543SLC40A1c.1195G>C (p.Asp399His)
c.1075G>C (p.Asp359His)
2g.189563791C>TCA349987544SLC40A1c.1195G>A (p.Asp399Asn)
c.1075G>A (p.Asp359Asn)
2g.189563792C>ACA430502740SLC40A1c.1194G>T (p.Leu398=)
c.1074G>T (p.Leu358=)
2g.189563792C>GCA430502741SLC40A1c.1194G>C (p.Leu398=)
c.1074G>C (p.Leu358=)
2g.189563792C>TCA430502743SLC40A1c.1194G>A (p.Leu398=)
c.1074G>A (p.Leu358=)
2g.189563793A>CCA349987545SLC40A1c.1193T>G (p.Leu398Arg)
c.1073T>G (p.Leu358Arg)
2g.189563793A>GCA349987546SLC40A1c.1193T>C (p.Leu398Pro)
c.1073T>C (p.Leu358Pro)
2g.189563793A>TCA349987547SLC40A1c.1193T>A (p.Leu398Gln)
c.1073T>A (p.Leu358Gln)
2g.189563793_189563794delinsAGCA1315654038SLC40A1c.1192_1193delinsCT (p.Leu398=)
c.1072_1073delinsCT (p.Leu358=)
2g.189563794G>ACA430502750SLC40A1c.1192C>T (p.Leu398=)
c.1072C>T (p.Leu358=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563794G>CCA349987548SLC40A1c.1192C>G (p.Leu398Val)
c.1072C>G (p.Leu358Val)
 gnomAD v4
2g.189563794G=CA1315654043SLC40A1c.1192C= (p.Leu398=)
c.1072C= (p.Leu358=)
2g.189563794G>TCA349987549SLC40A1c.1192C>A (p.Leu398Met)
c.1072C>A (p.Leu358Met)
2g.189563798delCA430502749SLC40A1c.1192del (p.Leu398TrpfsTer?)
c.1072del (p.Leu358TrpfsTer?)
 dbSNP COSMIC
2g.189563795G>ACA430502752SLC40A1c.1191C>T (p.Pro397=)
c.1071C>T (p.Pro357=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563795G>CCA430502753SLC40A1c.1191C>G (p.Pro397=)
c.1071C>G (p.Pro357=)
 dbSNP gnomAD v3 gnomAD v4
2g.189563795G=CA1315654047SLC40A1c.1191C= (p.Pro397=)
c.1071C= (p.Pro357=)
2g.189563795G>TCA430502754SLC40A1c.1191C>A (p.Pro397=)
c.1071C>A (p.Pro357=)
2g.189563796G>ACA349987550SLC40A1c.1190C>T (p.Pro397Leu)
c.1070C>T (p.Pro357Leu)
 dbSNP gnomAD v4
2g.189563796G>CCA349987552SLC40A1c.1190C>G (p.Pro397Arg)
c.1070C>G (p.Pro357Arg)
 gnomAD v4
2g.189563796G=CA1315654049SLC40A1c.1190C= (p.Pro397=)
c.1070C= (p.Pro357=)
2g.189563796G>TCA349987551SLC40A1c.1190C>A (p.Pro397His)
c.1070C>A (p.Pro357His)
 COSMIC
2g.189563797G>ACA349987553SLC40A1c.1189C>T (p.Pro397Ser)
c.1069C>T (p.Pro357Ser)
 dbSNP
2g.189563797G>CCA349987554SLC40A1c.1189C>G (p.Pro397Ala)
c.1069C>G (p.Pro357Ala)
2g.189563797G=CA1315654053SLC40A1c.1189C= (p.Pro397=)
c.1069C= (p.Pro357=)
2g.189563797G>TCA349987555SLC40A1c.1189C>A (p.Pro397Thr)
c.1069C>A (p.Pro357Thr)
2g.189563798G>ACA430502759SLC40A1c.1188C>T (p.Ser396=)
c.1068C>T (p.Ser356=)
 gnomAD v4
2g.189563798G>CCA349987556SLC40A1c.1188C>G (p.Ser396Arg)
c.1068C>G (p.Ser356Arg)
2g.189563798G>TCA349987557SLC40A1c.1188C>A (p.Ser396Arg)
c.1068C>A (p.Ser356Arg)
2g.189563799C>ACA349987558SLC40A1c.1187G>T (p.Ser396Ile)
c.1067G>T (p.Ser356Ile)
2g.189563799C>GCA349987559SLC40A1c.1187G>C (p.Ser396Thr)
c.1067G>C (p.Ser356Thr)
2g.189563799C>TCA349987560SLC40A1c.1187G>A (p.Ser396Asn)
c.1067G>A (p.Ser356Asn)
 gnomAD v4
2g.189563800T>ACA349987561SLC40A1c.1186A>T (p.Ser396Cys)
c.1066A>T (p.Ser356Cys)
2g.189563800T>CCA349987562SLC40A1c.1186A>G (p.Ser396Gly)
c.1066A>G (p.Ser356Gly)
2g.189563800T>GCA349987563SLC40A1c.1186A>C (p.Ser396Arg)
c.1066A>C (p.Ser356Arg)
2g.189563801T>ACA430502765SLC40A1c.1185A>T (p.Gly395=)
c.1065A>T (p.Gly355=)
 dbSNP gnomAD v2 gnomAD v4
2g.189563801T>CCA430502767SLC40A1c.1185A>G (p.Gly395=)
c.1065A>G (p.Gly355=)
2g.189563801T>GCA430502769SLC40A1c.1185A>C (p.Gly395=)
c.1065A>C (p.Gly355=)
2g.189563801T=CA1315654055SLC40A1c.1185A= (p.Gly395=)
c.1065A= (p.Gly355=)
2g.189563802C>ACA349987565SLC40A1c.1184G>T (p.Gly395Val)
c.1064G>T (p.Gly355Val)
2g.189563802C=CA1315654057SLC40A1c.1184G= (p.Gly395=)
c.1064G= (p.Gly355=)
2g.189563802C>GCA349987566SLC40A1c.1184G>C (p.Gly395Ala)
c.1064G>C (p.Gly355Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563802C>TCA349987564SLC40A1c.1184G>A (p.Gly395Glu)
c.1064G>A (p.Gly355Glu)
2g.189563803C>ACA349987569SLC40A1c.1183G>T (p.Gly395Ter)
c.1063G>T (p.Gly355Ter)
2g.189563803C>GCA349987567SLC40A1c.1183G>C (p.Gly395Arg)
c.1063G>C (p.Gly355Arg)
2g.189563803C>TCA349987568SLC40A1c.1183G>A (p.Gly395Arg)
c.1063G>A (p.Gly355Arg)
2g.189563804A>CCA430502772SLC40A1c.1182T>G (p.Pro394=)
c.1062T>G (p.Pro354=)
2g.189563804A>GCA430502773SLC40A1c.1182T>C (p.Pro394=)
c.1062T>C (p.Pro354=)
 gnomAD v4
2g.189563804A>TCA430502775SLC40A1c.1182T>A (p.Pro394=)
c.1062T>A (p.Pro354=)
2g.189563805G>ACA349987570SLC40A1c.1181C>T (p.Pro394Leu)
c.1061C>T (p.Pro354Leu)
 gnomAD v4
2g.189563805G>CCA349987571SLC40A1c.1181C>G (p.Pro394Arg)
c.1061C>G (p.Pro354Arg)
2g.189563805G>TCA349987572SLC40A1c.1181C>A (p.Pro394His)
c.1061C>A (p.Pro354His)
2g.189563806G>ACA349987573SLC40A1c.1180C>T (p.Pro394Ser)
c.1060C>T (p.Pro354Ser)
 gnomAD v4
2g.189563806G>CCA349987574SLC40A1c.1180C>G (p.Pro394Ala)
c.1060C>G (p.Pro354Ala)
2g.189563806G>TCA349987575SLC40A1c.1180C>A (p.Pro394Thr)
c.1060C>A (p.Pro354Thr)
2g.189563807C>ACA349987576SLC40A1c.1179G>T (p.Met393Ile)
c.1059G>T (p.Met353Ile)
2g.189563807C=CA1315654060SLC40A1c.1179G= (p.Met393=)
c.1059G= (p.Met353=)
2g.189563807C>GCA349987577SLC40A1c.1179G>C (p.Met393Ile)
c.1059G>C (p.Met353Ile)
2g.189563807C>TCA349987578SLC40A1c.1179G>A (p.Met393Ile)
c.1059G>A (p.Met353Ile)
 dbSNP
2g.189563808A=CA1315654062SLC40A1c.1178T= (p.Met393=)
c.1058T= (p.Met353=)
2g.189563808A>CCA349987581SLC40A1c.1178T>G (p.Met393Arg)
c.1058T>G (p.Met353Arg)
2g.189563808A>GCA349987580SLC40A1c.1178T>C (p.Met393Thr)
c.1058T>C (p.Met353Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.189563808A>TCA349987579SLC40A1c.1178T>A (p.Met393Lys)
c.1058T>A (p.Met353Lys)
2g.189563809T>ACA349987582SLC40A1c.1177A>T (p.Met393Leu)
c.1057A>T (p.Met353Leu)
2g.189563809T>CCA62902890SLC40A1c.1177A>G (p.Met393Val)
c.1057A>G (p.Met353Val)
 dbSNP gnomAD v3 gnomAD v4
2g.189563809T>GCA349987583SLC40A1c.1177A>C (p.Met393Leu)
c.1057A>C (p.Met353Leu)
2g.189563809T=CA1315654064SLC40A1c.1177A= (p.Met393=)
c.1057A= (p.Met353=)
2g.189563810G>ACA62902891SLC40A1c.1176C>T (p.Phe392=)
c.1056C>T (p.Phe352=)
 dbSNP gnomAD v2
2g.189563810G>CCA349987584SLC40A1c.1176C>G (p.Phe392Leu)
c.1056C>G (p.Phe352Leu)
2g.189563810G=CA1315654066SLC40A1c.1176C= (p.Phe392=)
c.1056C= (p.Phe352=)
2g.189563810G>TCA349987585SLC40A1c.1176C>A (p.Phe392Leu)
c.1056C>A (p.Phe352Leu)
2g.189563811A>CCA349987586SLC40A1c.1175T>G (p.Phe392Cys)
c.1055T>G (p.Phe352Cys)
2g.189563811A>GCA349987587SLC40A1c.1175T>C (p.Phe392Ser)
c.1055T>C (p.Phe352Ser)
 gnomAD v4
2g.189563811A>TCA349987588SLC40A1c.1175T>A (p.Phe392Tyr)
c.1055T>A (p.Phe352Tyr)
2g.189563812A>CCA349987589SLC40A1c.1174T>G (p.Phe392Val)
c.1054T>G (p.Phe352Val)
2g.189563812A>GCA349987590SLC40A1c.1174T>C (p.Phe392Leu)
c.1054T>C (p.Phe352Leu)
2g.189563812A>TCA349987591SLC40A1c.1174T>A (p.Phe392Ile)
c.1054T>A (p.Phe352Ile)
2g.189563813T>ACA430502797SLC40A1c.1173A>T (p.Val391=)
c.1053A>T (p.Val351=)
2g.189563813T>CCA430502798SLC40A1c.1173A>G (p.Val391=)
c.1053A>G (p.Val351=)
2g.189563813T>GCA430502800SLC40A1c.1173A>C (p.Val391=)
c.1053A>C (p.Val351=)
2g.189563814A>CCA349987593SLC40A1c.1172T>G (p.Val391Gly)
c.1052T>G (p.Val351Gly)
2g.189563814A>GCA349987594SLC40A1c.1172T>C (p.Val391Ala)
c.1052T>C (p.Val351Ala)
2g.189563814A>TCA349987592SLC40A1c.1172T>A (p.Val391Glu)
c.1052T>A (p.Val351Glu)
2g.189563815C>ACA349987595SLC40A1c.1171G>T (p.Val391Leu)
c.1051G>T (p.Val351Leu)
2g.189563815C=CA1315654071SLC40A1c.1171G= (p.Val391=)
c.1051G= (p.Val351=)
2g.189563815C>GCA62902892SLC40A1c.1171G>C (p.Val391Leu)
c.1051G>C (p.Val351Leu)
 dbSNP
2g.189563815C>TCA2024108SLC40A1c.1171G>A (p.Val391Ile)
c.1051G>A (p.Val351Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563816A=CA1315654074SLC40A1c.1170T= (p.Ser390=)
c.1050T= (p.Ser350=)
2g.189563816A>CCA430502805SLC40A1c.1170T>G (p.Ser390=)
c.1050T>G (p.Ser350=)
2g.189563816A>GCA430502807SLC40A1c.1170T>C (p.Ser390=)
c.1050T>C (p.Ser350=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563816A>TCA430502808SLC40A1c.1170T>A (p.Ser390=)
c.1050T>A (p.Ser350=)
2g.189563817G>ACA349987596SLC40A1c.1169C>T (p.Ser390Phe)
c.1049C>T (p.Ser350Phe)
 dbSNP COSMIC
2g.189563817G>CCA349987597SLC40A1c.1169C>G (p.Ser390Cys)
c.1049C>G (p.Ser350Cys)
2g.189563817G=CA1315654076SLC40A1c.1169C= (p.Ser390=)
c.1049C= (p.Ser350=)
2g.189563817G>TCA349987598SLC40A1c.1169C>A (p.Ser390Tyr)
c.1049C>A (p.Ser350Tyr)
2g.189563818A>CCA349987599SLC40A1c.1168T>G (p.Ser390Ala)
c.1048T>G (p.Ser350Ala)
2g.189563818A>GCA349987600SLC40A1c.1168T>C (p.Ser390Pro)
c.1048T>C (p.Ser350Pro)
2g.189563818A>TCA349987601SLC40A1c.1168T>A (p.Ser390Thr)
c.1048T>A (p.Ser350Thr)
2g.189563819G>ACA430502822SLC40A1c.1167C>T (p.Ile389=)
c.1047C>T (p.Ile349=)
2g.189563819G>CCA349987602SLC40A1c.1167C>G (p.Ile389Met)
c.1047C>G (p.Ile349Met)
2g.189563819G>TCA430502823SLC40A1c.1167C>A (p.Ile389=)
c.1047C>A (p.Ile349=)
2g.189563820A>CCA349987603SLC40A1c.1166T>G (p.Ile389Ser)
c.1046T>G (p.Ile349Ser)
2g.189563820A>GCA349987604SLC40A1c.1166T>C (p.Ile389Thr)
c.1046T>C (p.Ile349Thr)
2g.189563820A>TCA349987605SLC40A1c.1166T>A (p.Ile389Asn)
c.1046T>A (p.Ile349Asn)
2g.189563821T>ACA349987608SLC40A1c.1165A>T (p.Ile389Phe)
c.1045A>T (p.Ile349Phe)
2g.189563821T>CCA349987607SLC40A1c.1165A>G (p.Ile389Val)
c.1045A>G (p.Ile349Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563821T>GCA349987606SLC40A1c.1165A>C (p.Ile389Leu)
c.1045A>C (p.Ile349Leu)
2g.189563821T=CA1315654079SLC40A1c.1165A= (p.Ile389=)
c.1045A= (p.Ile349=)
2g.189563822C>ACA430502837SLC40A1c.1164G>T (p.Val388=)
c.1044G>T (p.Val348=)
2g.189563822C>GCA430502839SLC40A1c.1164G>C (p.Val388=)
c.1044G>C (p.Val348=)
2g.189563822C>TCA430502841SLC40A1c.1164G>A (p.Val388=)
c.1044G>A (p.Val348=)
2g.189563823A>CCA349987609SLC40A1c.1163T>G (p.Val388Gly)
c.1043T>G (p.Val348Gly)
2g.189563823A>GCA349987610SLC40A1c.1163T>C (p.Val388Ala)
c.1043T>C (p.Val348Ala)
 gnomAD v4
2g.189563823A>TCA349987611SLC40A1c.1163T>A (p.Val388Glu)
c.1043T>A (p.Val348Glu)
2g.189563824C>ACA349987612SLC40A1c.1162G>T (p.Val388Leu)
c.1042G>T (p.Val348Leu)
2g.189563824C>GCA349987613SLC40A1c.1162G>C (p.Val388Leu)
c.1042G>C (p.Val348Leu)
2g.189563824C>TCA349987614SLC40A1c.1162G>A (p.Val388Met)
c.1042G>A (p.Val348Met)
2g.189563825A>CCA349987615SLC40A1c.1161T>G (p.Cys387Trp)
c.1041T>G (p.Cys347Trp)
2g.189563825A>GCA430502848SLC40A1c.1161T>C (p.Cys387=)
c.1041T>C (p.Cys347=)
2g.189563825A>TCA349987616SLC40A1c.1161T>A (p.Cys387Ter)
c.1041T>A (p.Cys347Ter)
2g.189563826C>ACA349987617SLC40A1c.1160G>T (p.Cys387Phe)
c.1040G>T (p.Cys347Phe)
2g.189563826C>GCA349987618SLC40A1c.1160G>C (p.Cys387Ser)
c.1040G>C (p.Cys347Ser)
2g.189563826C>TCA349987619SLC40A1c.1160G>A (p.Cys387Tyr)
c.1040G>A (p.Cys347Tyr)
2g.189563827A>CCA349987620SLC40A1c.1159T>G (p.Cys387Gly)
c.1039T>G (p.Cys347Gly)
2g.189563827A>GCA349987621SLC40A1c.1159T>C (p.Cys387Arg)
c.1039T>C (p.Cys347Arg)
2g.189563827A>TCA349987622SLC40A1c.1159T>A (p.Cys387Ser)
c.1039T>A (p.Cys347Ser)
2g.189563828C>ACA2024109SLC40A1c.1158G>T (p.Leu386Phe)
c.1038G>T (p.Leu346Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563828C=CA1315654082SLC40A1c.1158G= (p.Leu386=)
c.1038G= (p.Leu346=)
2g.189563828C>GCA349987623SLC40A1c.1158G>C (p.Leu386Phe)
c.1038G>C (p.Leu346Phe)
 dbSNP
2g.189563828C>TCA430502855SLC40A1c.1158G>A (p.Leu386=)
c.1038G>A (p.Leu346=)
2g.189563829A>CCA349987624SLC40A1c.1157T>G (p.Leu386Trp)
c.1037T>G (p.Leu346Trp)
 gnomAD v4
2g.189563829A>GCA349987626SLC40A1c.1157T>C (p.Leu386Ser)
c.1037T>C (p.Leu346Ser)
2g.189563829A>TCA349987625SLC40A1c.1157T>A (p.Leu386Ter)
c.1037T>A (p.Leu346Ter)
2g.189563830A=CA1315654084SLC40A1c.1156T= (p.Leu386=)
c.1036T= (p.Leu346=)
2g.189563830A>CCA349987627SLC40A1c.1156T>G (p.Leu386Val)
c.1036T>G (p.Leu346Val)
2g.189563830A>GCA430502861SLC40A1c.1156T>C (p.Leu386=)
c.1036T>C (p.Leu346=)
 dbSNP
2g.189563830A>TCA2024110SLC40A1c.1156T>A (p.Leu386Met)
c.1036T>A (p.Leu346Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563831G>ACA430502865SLC40A1c.1155C>T (p.Ile385=)
c.1035C>T (p.Ile345=)
2g.189563831G>CCA349987628SLC40A1c.1155C>G (p.Ile385Met)
c.1035C>G (p.Ile345Met)
2g.189563831G>TCA430502864SLC40A1c.1155C>A (p.Ile385=)
c.1035C>A (p.Ile345=)
2g.189563832A=CA1315654086SLC40A1c.1154T= (p.Ile385=)
c.1034T= (p.Ile345=)
2g.189563832A>CCA349987629SLC40A1c.1154T>G (p.Ile385Ser)
c.1034T>G (p.Ile345Ser)
2g.189563832A>GCA2024111SLC40A1c.1154T>C (p.Ile385Thr)
c.1034T>C (p.Ile345Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563832A>TCA349987630SLC40A1c.1154T>A (p.Ile385Asn)
c.1034T>A (p.Ile345Asn)
2g.189563833T>ACA349987631SLC40A1c.1153A>T (p.Ile385Phe)
c.1033A>T (p.Ile345Phe)
 gnomAD v4
2g.189563833T>CCA349987632SLC40A1c.1153A>G (p.Ile385Val)
c.1033A>G (p.Ile345Val)
2g.189563833T>GCA349987633SLC40A1c.1153A>C (p.Ile385Leu)
c.1033A>C (p.Ile345Leu)
2g.189563834C>ACA349987634SLC40A1c.1152G>T (p.Leu384Phe)
c.1032G>T (p.Leu344Phe)
2g.189563834C=CA1315654090SLC40A1c.1152G= (p.Leu384=)
c.1032G= (p.Leu344=)
2g.189563834C>GCA349987635SLC40A1c.1152G>C (p.Leu384Phe)
c.1032G>C (p.Leu344Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563834C>TCA430502868SLC40A1c.1152G>A (p.Leu384=)
c.1032G>A (p.Leu344=)
2g.189563835A>CCA349987636SLC40A1c.1151T>G (p.Leu384Trp)
c.1031T>G (p.Leu344Trp)
 ClinVar dbSNP
2g.189563835A>GCA349987637SLC40A1c.1151T>C (p.Leu384Ser)
c.1031T>C (p.Leu344Ser)
2g.189563835A>TCA349987638SLC40A1c.1151T>A (p.Leu384Ter)
c.1031T>A (p.Leu344Ter)
2g.189563836A>CCA349987639SLC40A1c.1150T>G (p.Leu384Val)
c.1030T>G (p.Leu344Val)
2g.189563836A>GCA430502872SLC40A1c.1150T>C (p.Leu384=)
c.1030T>C (p.Leu344=)
 COSMIC
2g.189563836A>TCA349987640SLC40A1c.1150T>A (p.Leu384Met)
c.1030T>A (p.Leu344Met)
2g.189563837A>CCA349987641SLC40A1c.1149T>G (p.Cys383Trp)
c.1029T>G (p.Cys343Trp)
2g.189563837A>GCA430502873SLC40A1c.1149T>C (p.Cys383=)
c.1029T>C (p.Cys343=)
2g.189563837A>TCA349987642SLC40A1c.1149T>A (p.Cys383Ter)
c.1029T>A (p.Cys343Ter)
2g.189563838C>ACA349987643SLC40A1c.1148G>T (p.Cys383Phe)
c.1028G>T (p.Cys343Phe)
2g.189563838C=CA1315654092SLC40A1c.1148G= (p.Cys383=)
c.1028G= (p.Cys343=)
2g.189563838C>GCA349987644SLC40A1c.1148G>C (p.Cys383Ser)
c.1028G>C (p.Cys343Ser)
 dbSNP gnomAD v4
2g.189563838C>TCA349987645SLC40A1c.1148G>A (p.Cys383Tyr)
c.1028G>A (p.Cys343Tyr)
2g.189563839A>CCA349987646SLC40A1c.1147T>G (p.Cys383Gly)
c.1027T>G (p.Cys343Gly)
2g.189563839A>GCA349987647SLC40A1c.1147T>C (p.Cys383Arg)
c.1027T>C (p.Cys343Arg)
2g.189563839A>TCA349987648SLC40A1c.1147T>A (p.Cys383Ser)
c.1027T>A (p.Cys343Ser)
2g.189563840G>ACA430502875SLC40A1c.1146C>T (p.Ser382=)
c.1026C>T (p.Ser342=)
2g.189563840G>CCA430502876SLC40A1c.1146C>G (p.Ser382=)
c.1026C>G (p.Ser342=)
2g.189563840G>TCA430502877SLC40A1c.1146C>A (p.Ser382=)
c.1026C>A (p.Ser342=)
2g.189563841dupCA645519888SLC40A1c.1146dup (p.Cys383LeufsTer24)
c.1026dup (p.Cys343LeufsTer24)
 COSMIC
2g.189563841G>ACA349987649SLC40A1c.1145C>T (p.Ser382Phe)
c.1025C>T (p.Ser342Phe)
 gnomAD v4
2g.189563841G>CCA349987650SLC40A1c.1145C>G (p.Ser382Cys)
c.1025C>G (p.Ser342Cys)
2g.189563841G>TCA349987651SLC40A1c.1145C>A (p.Ser382Tyr)
c.1025C>A (p.Ser342Tyr)

Number of alleles fetched