Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189563750_189563751insCAGGATTTGTGGCACCTTCTGACTGTCAAACTGTTCTTGTCAATCTCACGGTAGGTGTAATTGACTCTCCTTGAATG | CA2499215545 | SLC40A1 | c.1263_1264insGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTCAATTACACCTACC (p.Lys422ValfsTer8) c.1143_1144insGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTCAATTACACCTACC (p.Lys382ValfsTer8) | ClinVar dbSNP |
2 | g.189563750_189563751insCAGGATTTGTGGCACCTTCTGACTGTCAAACTGTTCTTGTCGACTCTCCTTGAATG | CA2499215546 | SLC40A1 | c.1250_1251insGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTC (p.Ile418ThrfsTer5) c.1130_1131insGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTC (p.Ile378ThrfsTer5) | ClinVar dbSNP |
2 | g.189563742C>A | CA349987437 | SLC40A1 | c.1244G>T (p.Gly415Val) c.1124G>T (p.Gly375Val) | |
2 | g.189563742C>G | CA349987438 | SLC40A1 | c.1244G>C (p.Gly415Ala) c.1124G>C (p.Gly375Ala) | |
2 | g.189563742C>T | CA349987439 | SLC40A1 | c.1244G>A (p.Gly415Glu) c.1124G>A (p.Gly375Glu) | |
2 | g.189563743del | CA2662328577 | SLC40A1 | c.1244del (p.Gly415GlufsTer?) c.1124del (p.Gly375GlufsTer?) | gnomAD v4 |
2 | g.189563743C>A | CA349987440 | SLC40A1 | c.1243G>T (p.Gly415Ter) c.1123G>T (p.Gly375Ter) | |
2 | g.189563743C>G | CA349987441 | SLC40A1 | c.1243G>C (p.Gly415Arg) c.1123G>C (p.Gly375Arg) | |
2 | g.189563743C>T | CA349987442 | SLC40A1 | c.1243G>A (p.Gly415Arg) c.1123G>A (p.Gly375Arg) | |
2 | g.189563744T>A | CA349987443 | SLC40A1 | c.1242A>T (p.Gln414His) c.1122A>T (p.Gln374His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563744T>C | CA430367290 | SLC40A1 | c.1242A>G (p.Gln414=) c.1122A>G (p.Gln374=) | |
2 | g.189563744T>G | CA349987444 | SLC40A1 | c.1242A>C (p.Gln414His) c.1122A>C (p.Gln374His) | |
2 | g.189563744T= | CA1315653973 | SLC40A1 | c.1242A= (p.Gln414=) c.1122A= (p.Gln374=) | |
2 | g.189563745T>A | CA349987445 | SLC40A1 | c.1241A>T (p.Gln414Leu) c.1121A>T (p.Gln374Leu) | |
2 | g.189563745T>C | CA349987446 | SLC40A1 | c.1241A>G (p.Gln414Arg) c.1121A>G (p.Gln374Arg) | |
2 | g.189563745T>G | CA349987447 | SLC40A1 | c.1241A>C (p.Gln414Pro) c.1121A>C (p.Gln374Pro) | |
2 | g.189563750_189563813dup | CA2607006871 | SLC40A1 | c.1178_1241dup (p.Gln414HisfsTer14) c.1058_1121dup (p.Gln374HisfsTer14) | gnomAD v3 gnomAD v4 |
2 | g.189563746G>A | CA349987448 | SLC40A1 | c.1240C>T (p.Gln414Ter) c.1120C>T (p.Gln374Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563746G>C | CA349987450 | SLC40A1 | c.1240C>G (p.Gln414Glu) c.1120C>G (p.Gln374Glu) | |
2 | g.189563746G= | CA1315653974 | SLC40A1 | c.1240C= (p.Gln414=) c.1120C= (p.Gln374=) | |
2 | g.189563746G>T | CA349987449 | SLC40A1 | c.1240C>A (p.Gln414Lys) c.1120C>A (p.Gln374Lys) | |
2 | g.189563747A>C | CA349987451 | SLC40A1 | c.1239T>G (p.Ile413Met) c.1119T>G (p.Ile373Met) | |
2 | g.189563747A>G | CA430367292 | SLC40A1 | c.1239T>C (p.Ile413=) c.1119T>C (p.Ile373=) | |
2 | g.189563747A>T | CA430367293 | SLC40A1 | c.1239T>A (p.Ile413=) c.1119T>A (p.Ile373=) | |
2 | g.189563748A>C | CA349987454 | SLC40A1 | c.1238T>G (p.Ile413Ser) c.1118T>G (p.Ile373Ser) | |
2 | g.189563748A>G | CA349987452 | SLC40A1 | c.1238T>C (p.Ile413Thr) c.1118T>C (p.Ile373Thr) | |
2 | g.189563748A>T | CA349987453 | SLC40A1 | c.1238T>A (p.Ile413Asn) c.1118T>A (p.Ile373Asn) | |
2 | g.189563749T>A | CA349987455 | SLC40A1 | c.1237A>T (p.Ile413Phe) c.1117A>T (p.Ile373Phe) | |
2 | g.189563749T>C | CA349987456 | SLC40A1 | c.1237A>G (p.Ile413Val) c.1117A>G (p.Ile373Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563749T>G | CA349987457 | SLC40A1 | c.1237A>C (p.Ile413Leu) c.1117A>C (p.Ile373Leu) | |
2 | g.189563749T= | CA1315653976 | SLC40A1 | c.1237A= (p.Ile413=) c.1117A= (p.Ile373=) | |
2 | g.189563750G>A | CA430367294 | SLC40A1 | c.1236C>T (p.Phe412=) c.1116C>T (p.Phe372=) | |
2 | g.189563750G>C | CA349987458 | SLC40A1 | c.1236C>G (p.Phe412Leu) c.1116C>G (p.Phe372Leu) | |
2 | g.189563750G= | CA1315653979 | SLC40A1 | c.1236C= (p.Phe412=) c.1116C= (p.Phe372=) | |
2 | g.189563750G>T | CA349987459 | SLC40A1 | c.1236C>A (p.Phe412Leu) c.1116C>A (p.Phe372Leu) | dbSNP COSMIC |
2 | g.189563751A>C | CA349987460 | SLC40A1 | c.1235T>G (p.Phe412Cys) c.1115T>G (p.Phe372Cys) | |
2 | g.189563751A>G | CA349987461 | SLC40A1 | c.1235T>C (p.Phe412Ser) c.1115T>C (p.Phe372Ser) | |
2 | g.189563751A>T | CA349987462 | SLC40A1 | c.1235T>A (p.Phe412Tyr) c.1115T>A (p.Phe372Tyr) | COSMIC |
2 | g.189563752A= | CA1315653982 | SLC40A1 | c.1234T= (p.Phe412=) c.1114T= (p.Phe372=) | |
2 | g.189563752A>C | CA349987463 | SLC40A1 | c.1234T>G (p.Phe412Val) c.1114T>G (p.Phe372Val) | |
2 | g.189563752A>G | CA349987464 | SLC40A1 | c.1234T>C (p.Phe412Leu) c.1114T>C (p.Phe372Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563752A>T | CA349987465 | SLC40A1 | c.1234T>A (p.Phe412Ile) c.1114T>A (p.Phe372Ile) | |
2 | g.189563753C>A | CA349987466 | SLC40A1 | c.1233G>T (p.Arg411Ser) c.1113G>T (p.Arg371Ser) | gnomAD v4 |
2 | g.189563753C>G | CA349987467 | SLC40A1 | c.1233G>C (p.Arg411Ser) c.1113G>C (p.Arg371Ser) | |
2 | g.189563753C>T | CA430367295 | SLC40A1 | c.1233G>A (p.Arg411=) c.1113G>A (p.Arg371=) | |
2 | g.189563754C>A | CA349987468 | SLC40A1 | c.1232G>T (p.Arg411Met) c.1112G>T (p.Arg371Met) | |
2 | g.189563754C>G | CA349987469 | SLC40A1 | c.1232G>C (p.Arg411Thr) c.1112G>C (p.Arg371Thr) | |
2 | g.189563754C>T | CA349987470 | SLC40A1 | c.1232G>A (p.Arg411Lys) c.1112G>A (p.Arg371Lys) | |
2 | g.189563755T>A | CA349987471 | SLC40A1 | c.1231A>T (p.Arg411Trp) c.1111A>T (p.Arg371Trp) | |
2 | g.189563755T>C | CA349987472 | SLC40A1 | c.1231A>G (p.Arg411Gly) c.1111A>G (p.Arg371Gly) | |
2 | g.189563755T>G | CA430367296 | SLC40A1 | c.1231A>C (p.Arg411=) c.1111A>C (p.Arg371=) | |
2 | g.189563756T>A | CA430367299 | SLC40A1 | c.1230A>T (p.Ser410=) c.1110A>T (p.Ser370=) | |
2 | g.189563756T>C | CA430367298 | SLC40A1 | c.1230A>G (p.Ser410=) c.1110A>G (p.Ser370=) | |
2 | g.189563756T>G | CA430367297 | SLC40A1 | c.1230A>C (p.Ser410=) c.1110A>C (p.Ser370=) | gnomAD v4 |
2 | g.189563757G>A | CA349987473 | SLC40A1 | c.1229C>T (p.Ser410Leu) c.1109C>T (p.Ser370Leu) | |
2 | g.189563757G>C | CA349987474 | SLC40A1 | c.1229C>G (p.Ser410Ter) c.1109C>G (p.Ser370Ter) | |
2 | g.189563757G= | CA1315653983 | SLC40A1 | c.1229C= (p.Ser410=) c.1109C= (p.Ser370=) | |
2 | g.189563757G>T | CA349987475 | SLC40A1 | c.1229C>A (p.Ser410Ter) c.1109C>A (p.Ser370Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563758A>C | CA349987476 | SLC40A1 | c.1228T>G (p.Ser410Ala) c.1108T>G (p.Ser370Ala) | |
2 | g.189563758A>G | CA349987477 | SLC40A1 | c.1228T>C (p.Ser410Pro) c.1108T>C (p.Ser370Pro) | |
2 | g.189563758A>T | CA349987478 | SLC40A1 | c.1228T>A (p.Ser410Thr) c.1108T>A (p.Ser370Thr) | |
2 | g.189563759T>A | CA430367302 | SLC40A1 | c.1227A>T (p.Arg409=) c.1107A>T (p.Arg369=) | |
2 | g.189563759T>C | CA430367301 | SLC40A1 | c.1227A>G (p.Arg409=) c.1107A>G (p.Arg369=) | gnomAD v4 |
2 | g.189563759T>G | CA430367300 | SLC40A1 | c.1227A>C (p.Arg409=) c.1107A>C (p.Arg369=) | dbSNP |
2 | g.189563759T= | CA1315653986 | SLC40A1 | c.1227A= (p.Arg409=) c.1107A= (p.Arg369=) | |
2 | g.189563760C>A | CA349987479 | SLC40A1 | c.1226G>T (p.Arg409Leu) c.1106G>T (p.Arg369Leu) | gnomAD v4 |
2 | g.189563760C= | CA1315653989 | SLC40A1 | c.1226G= (p.Arg409=) c.1106G= (p.Arg369=) | |
2 | g.189563760C>G | CA349987480 | SLC40A1 | c.1226G>C (p.Arg409Pro) c.1106G>C (p.Arg369Pro) | |
2 | g.189563760C>T | CA2024100 | SLC40A1 | c.1226G>A (p.Arg409Gln) c.1106G>A (p.Arg369Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563761G>A | CA349987481 | SLC40A1 | c.1225C>T (p.Arg409Ter) c.1105C>T (p.Arg369Ter) | dbSNP gnomAD v4 |
2 | g.189563761G>C | CA2024101 | SLC40A1 | c.1225C>G (p.Arg409Gly) c.1105C>G (p.Arg369Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563761G= | CA1315653994 | SLC40A1 | c.1225C= (p.Arg409=) c.1105C= (p.Arg369=) | |
2 | g.189563761G>T | CA2024102 | SLC40A1 | c.1225C>A (p.Arg409=) c.1105C>A (p.Arg369=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563762G>A | CA430367303 | SLC40A1 | c.1224C>T (p.Ile408=) c.1104C>T (p.Ile368=) | gnomAD v4 |
2 | g.189563762G>C | CA349987482 | SLC40A1 | c.1224C>G (p.Ile408Met) c.1104C>G (p.Ile368Met) | dbSNP |
2 | g.189563762G= | CA1315653997 | SLC40A1 | c.1224C= (p.Ile408=) c.1104C= (p.Ile368=) | |
2 | g.189563762G>T | CA430367304 | SLC40A1 | c.1224C>A (p.Ile408=) c.1104C>A (p.Ile368=) | |
2 | g.189563763del | CA2577188083 | SLC40A1 | c.1223del (p.Ile408ThrfsTer?) c.1103del (p.Ile368ThrfsTer?) | |
2 | g.189563763A= | CA1315653999 | SLC40A1 | c.1223T= (p.Ile408=) c.1103T= (p.Ile368=) | |
2 | g.189563763A>C | CA349987483 | SLC40A1 | c.1223T>G (p.Ile408Ser) c.1103T>G (p.Ile368Ser) | |
2 | g.189563763A>G | CA2024103 | SLC40A1 | c.1223T>C (p.Ile408Thr) c.1103T>C (p.Ile368Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563763A>T | CA349987484 | SLC40A1 | c.1223T>A (p.Ile408Asn) c.1103T>A (p.Ile368Asn) | gnomAD v4 |
2 | g.189563764T>A | CA2024104 | SLC40A1 | c.1222A>T (p.Ile408Phe) c.1102A>T (p.Ile368Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563764T>C | CA349987485 | SLC40A1 | c.1222A>G (p.Ile408Val) c.1102A>G (p.Ile368Val) | |
2 | g.189563764T>G | CA349987486 | SLC40A1 | c.1222A>C (p.Ile408Leu) c.1102A>C (p.Ile368Leu) | |
2 | g.189563764T= | CA1315654001 | SLC40A1 | c.1222A= (p.Ile408=) c.1102A= (p.Ile368=) | |
2 | g.189563765A>C | CA349987487 | SLC40A1 | c.1221T>G (p.Asp407Glu) c.1101T>G (p.Asp367Glu) | |
2 | g.189563765A>G | CA430367305 | SLC40A1 | c.1221T>C (p.Asp407=) c.1101T>C (p.Asp367=) | |
2 | g.189563765A>T | CA349987488 | SLC40A1 | c.1221T>A (p.Asp407Glu) c.1101T>A (p.Asp367Glu) | |
2 | g.189563766T>A | CA349987490 | SLC40A1 | c.1220A>T (p.Asp407Val) c.1100A>T (p.Asp367Val) | |
2 | g.189563766T>C | CA349987491 | SLC40A1 | c.1220A>G (p.Asp407Gly) c.1100A>G (p.Asp367Gly) | |
2 | g.189563766T>G | CA349987489 | SLC40A1 | c.1220A>C (p.Asp407Ala) c.1100A>C (p.Asp367Ala) | |
2 | g.189563767C>A | CA349987492 | SLC40A1 | c.1219G>T (p.Asp407Tyr) c.1099G>T (p.Asp367Tyr) | |
2 | g.189563767C>G | CA349987493 | SLC40A1 | c.1219G>C (p.Asp407His) c.1099G>C (p.Asp367His) | |
2 | g.189563767C>T | CA349987494 | SLC40A1 | c.1219G>A (p.Asp407Asn) c.1099G>A (p.Asp367Asn) | |
2 | g.189563768T>A | CA349987495 | SLC40A1 | c.1218A>T (p.Glu406Asp) c.1098A>T (p.Glu366Asp) | |
2 | g.189563768T>C | CA430367306 | SLC40A1 | c.1218A>G (p.Glu406=) c.1098A>G (p.Glu366=) | gnomAD v4 |
2 | g.189563768T>G | CA349987496 | SLC40A1 | c.1218A>C (p.Glu406Asp) c.1098A>C (p.Glu366Asp) | |
2 | g.189563769T>A | CA349987499 | SLC40A1 | c.1217A>T (p.Glu406Val) c.1097A>T (p.Glu366Val) | |
2 | g.189563769T>C | CA349987497 | SLC40A1 | c.1217A>G (p.Glu406Gly) c.1097A>G (p.Glu366Gly) | |
2 | g.189563769T>G | CA349987498 | SLC40A1 | c.1217A>C (p.Glu406Ala) c.1097A>C (p.Glu366Ala) | |
2 | g.189563770C>A | CA349987500 | SLC40A1 | c.1216G>T (p.Glu406Ter) c.1096G>T (p.Glu366Ter) | |
2 | g.189563770C= | CA1315654005 | SLC40A1 | c.1216G= (p.Glu406=) c.1096G= (p.Glu366=) | |
2 | g.189563770C>G | CA349987501 | SLC40A1 | c.1216G>C (p.Glu406Gln) c.1096G>C (p.Glu366Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563770C>T | CA349987502 | SLC40A1 | c.1216G>A (p.Glu406Lys) c.1096G>A (p.Glu366Lys) | |
2 | g.189563770_189563771delinsCA | CA1315654007 | SLC40A1 | c.1215_1216delinsTG (p.Phe405=) c.1095_1096delinsTG (p.Phe365=) | |
2 | g.189563771A>C | CA349987503 | SLC40A1 | c.1215T>G (p.Phe405Leu) c.1095T>G (p.Phe365Leu) | |
2 | g.189563771A>G | CA430367307 | SLC40A1 | c.1215T>C (p.Phe405=) c.1095T>C (p.Phe365=) | |
2 | g.189563771A>T | CA349987504 | SLC40A1 | c.1215T>A (p.Phe405Leu) c.1095T>A (p.Phe365Leu) | |
2 | g.189563774del | CA1040449931 | SLC40A1 | c.1215del (p.Phe405LeufsTer?) c.1095del (p.Phe365LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563772A= | CA1315654012 | SLC40A1 | c.1214T= (p.Phe405=) c.1094T= (p.Phe365=) | |
2 | g.189563772A>C | CA349987505 | SLC40A1 | c.1214T>G (p.Phe405Cys) c.1094T>G (p.Phe365Cys) | |
2 | g.189563772A>G | CA62902887 | SLC40A1 | c.1214T>C (p.Phe405Ser) c.1094T>C (p.Phe365Ser) | dbSNP |
2 | g.189563772A>T | CA349987506 | SLC40A1 | c.1214T>A (p.Phe405Tyr) c.1094T>A (p.Phe365Tyr) | |
2 | g.189563773A>C | CA349987507 | SLC40A1 | c.1213T>G (p.Phe405Val) c.1093T>G (p.Phe365Val) | |
2 | g.189563773A>G | CA349987509 | SLC40A1 | c.1213T>C (p.Phe405Leu) c.1093T>C (p.Phe365Leu) | gnomAD v4 |
2 | g.189563773A>T | CA349987508 | SLC40A1 | c.1213T>A (p.Phe405Ile) c.1093T>A (p.Phe365Ile) | |
2 | g.189563774A>C | CA430367308 | SLC40A1 | c.1212T>G (p.Pro404=) c.1092T>G (p.Pro364=) | |
2 | g.189563774A>G | CA430367309 | SLC40A1 | c.1212T>C (p.Pro404=) c.1092T>C (p.Pro364=) | |
2 | g.189563774A>T | CA430367310 | SLC40A1 | c.1212T>A (p.Pro404=) c.1092T>A (p.Pro364=) | |
2 | g.189563775G>A | CA349987510 | SLC40A1 | c.1211C>T (p.Pro404Leu) c.1091C>T (p.Pro364Leu) | |
2 | g.189563775G>C | CA349987512 | SLC40A1 | c.1211C>G (p.Pro404Arg) c.1091C>G (p.Pro364Arg) | |
2 | g.189563775G>T | CA349987511 | SLC40A1 | c.1211C>A (p.Pro404His) c.1091C>A (p.Pro364His) | |
2 | g.189563776G>A | CA349987513 | SLC40A1 | c.1210C>T (p.Pro404Ser) c.1090C>T (p.Pro364Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.189563776G>C | CA349987514 | SLC40A1 | c.1210C>G (p.Pro404Ala) c.1090C>G (p.Pro364Ala) | |
2 | g.189563776G= | CA1315654015 | SLC40A1 | c.1210C= (p.Pro404=) c.1090C= (p.Pro364=) | |
2 | g.189563776G>T | CA2024105 | SLC40A1 | c.1210C>A (p.Pro404Thr) c.1090C>A (p.Pro364Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563777A= | CA1315654020 | SLC40A1 | c.1209T= (p.Ser403=) c.1089T= (p.Ser363=) | |
2 | g.189563777A>C | CA430367313 | SLC40A1 | c.1209T>G (p.Ser403=) c.1089T>G (p.Ser363=) | |
2 | g.189563777A>G | CA430367312 | SLC40A1 | c.1209T>C (p.Ser403=) c.1089T>C (p.Ser363=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189563777A>T | CA430367311 | SLC40A1 | c.1209T>A (p.Ser403=) c.1089T>A (p.Ser363=) | |
2 | g.189563778G>A | CA349987515 | SLC40A1 | c.1208C>T (p.Ser403Phe) c.1088C>T (p.Ser363Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563778G>C | CA349987516 | SLC40A1 | c.1208C>G (p.Ser403Cys) c.1088C>G (p.Ser363Cys) | |
2 | g.189563778G= | CA1315654024 | SLC40A1 | c.1208C= (p.Ser403=) c.1088C= (p.Ser363=) | |
2 | g.189563778G>T | CA62902888 | SLC40A1 | c.1208C>A (p.Ser403Tyr) c.1088C>A (p.Ser363Tyr) | dbSNP |
2 | g.189563779A>C | CA349987517 | SLC40A1 | c.1207T>G (p.Ser403Ala) c.1087T>G (p.Ser363Ala) | |
2 | g.189563779A>G | CA349987518 | SLC40A1 | c.1207T>C (p.Ser403Pro) c.1087T>C (p.Ser363Pro) | |
2 | g.189563779A>T | CA349987519 | SLC40A1 | c.1207T>A (p.Ser403Thr) c.1087T>A (p.Ser363Thr) | |
2 | g.189563780A>C | CA430502702 | SLC40A1 | c.1206T>G (p.Val402=) c.1086T>G (p.Val362=) | |
2 | g.189563780A>G | CA430502703 | SLC40A1 | c.1206T>C (p.Val402=) c.1086T>C (p.Val362=) | |
2 | g.189563780A>T | CA430502705 | SLC40A1 | c.1206T>A (p.Val402=) c.1086T>A (p.Val362=) | |
2 | g.189563781A>C | CA349987520 | SLC40A1 | c.1205T>G (p.Val402Gly) c.1085T>G (p.Val362Gly) | |
2 | g.189563781A>G | CA349987521 | SLC40A1 | c.1205T>C (p.Val402Ala) c.1085T>C (p.Val362Ala) | |
2 | g.189563781A>T | CA349987522 | SLC40A1 | c.1205T>A (p.Val402Asp) c.1085T>A (p.Val362Asp) | |
2 | g.189563782C>A | CA62902889 | SLC40A1 | c.1204G>T (p.Val402Phe) c.1084G>T (p.Val362Phe) | dbSNP gnomAD v4 |
2 | g.189563782C= | CA1315654028 | SLC40A1 | c.1204G= (p.Val402=) c.1084G= (p.Val362=) | |
2 | g.189563782C>G | CA349987523 | SLC40A1 | c.1204G>C (p.Val402Leu) c.1084G>C (p.Val362Leu) | |
2 | g.189563782C>T | CA2024106 | SLC40A1 | c.1204G>A (p.Val402Ile) c.1084G>A (p.Val362Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.189563783G>A | CA2024107 | SLC40A1 | c.1203C>T (p.Ser401=) c.1083C>T (p.Ser361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.189563783G>C | CA430502714 | SLC40A1 | c.1203C>G (p.Ser401=) c.1083C>G (p.Ser361=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189563783G= | CA1315654034 | SLC40A1 | c.1203C= (p.Ser401=) c.1083C= (p.Ser361=) | |
2 | g.189563783G>T | CA430502713 | SLC40A1 | c.1203C>A (p.Ser401=) c.1083C>A (p.Ser361=) | |
2 | g.189563784G>A | CA349987524 | SLC40A1 | c.1202C>T (p.Ser401Phe) c.1082C>T (p.Ser361Phe) | |
2 | g.189563784G>C | CA349987525 | SLC40A1 | c.1202C>G (p.Ser401Cys) c.1082C>G (p.Ser361Cys) | |
2 | g.189563784G>T | CA349987526 | SLC40A1 | c.1202C>A (p.Ser401Tyr) c.1082C>A (p.Ser361Tyr) | |
2 | g.189563785A>C | CA349987527 | SLC40A1 | c.1201T>G (p.Ser401Ala) c.1081T>G (p.Ser361Ala) | |
2 | g.189563785A>G | CA349987528 | SLC40A1 | c.1201T>C (p.Ser401Pro) c.1081T>C (p.Ser361Pro) | |
2 | g.189563785A>T | CA349987529 | SLC40A1 | c.1201T>A (p.Ser401Thr) c.1081T>A (p.Ser361Thr) | |
2 | g.189563786C>A | CA349987530 | SLC40A1 | c.1200G>T (p.Leu400Phe) c.1080G>T (p.Leu360Phe) | gnomAD v4 |
2 | g.189563786C>G | CA349987531 | SLC40A1 | c.1200G>C (p.Leu400Phe) c.1080G>C (p.Leu360Phe) | gnomAD v4 |
2 | g.189563786C>T | CA430502727 | SLC40A1 | c.1200G>A (p.Leu400=) c.1080G>A (p.Leu360=) | |
2 | g.189563787A>C | CA349987532 | SLC40A1 | c.1199T>G (p.Leu400Trp) c.1079T>G (p.Leu360Trp) | |
2 | g.189563787A>G | CA349987533 | SLC40A1 | c.1199T>C (p.Leu400Ser) c.1079T>C (p.Leu360Ser) | |
2 | g.189563787A>T | CA349987534 | SLC40A1 | c.1199T>A (p.Leu400Ter) c.1079T>A (p.Leu360Ter) | |
2 | g.189563788A>C | CA349987536 | SLC40A1 | c.1198T>G (p.Leu400Val) c.1078T>G (p.Leu360Val) | |
2 | g.189563788A>G | CA430502733 | SLC40A1 | c.1198T>C (p.Leu400=) c.1078T>C (p.Leu360=) | |
2 | g.189563788A>T | CA349987535 | SLC40A1 | c.1198T>A (p.Leu400Met) c.1078T>A (p.Leu360Met) | |
2 | g.189563789G>A | CA430502734 | SLC40A1 | c.1197C>T (p.Asp399=) c.1077C>T (p.Asp359=) | |
2 | g.189563789G>C | CA349987537 | SLC40A1 | c.1197C>G (p.Asp399Glu) c.1077C>G (p.Asp359Glu) | gnomAD v4 |
2 | g.189563789G>T | CA349987538 | SLC40A1 | c.1197C>A (p.Asp399Glu) c.1077C>A (p.Asp359Glu) | |
2 | g.189563790T>A | CA349987539 | SLC40A1 | c.1196A>T (p.Asp399Val) c.1076A>T (p.Asp359Val) | |
2 | g.189563790T>C | CA349987540 | SLC40A1 | c.1196A>G (p.Asp399Gly) c.1076A>G (p.Asp359Gly) | |
2 | g.189563790T>G | CA349987541 | SLC40A1 | c.1196A>C (p.Asp399Ala) c.1076A>C (p.Asp359Ala) | |
2 | g.189563791C>A | CA349987542 | SLC40A1 | c.1195G>T (p.Asp399Tyr) c.1075G>T (p.Asp359Tyr) | |
2 | g.189563791C>G | CA349987543 | SLC40A1 | c.1195G>C (p.Asp399His) c.1075G>C (p.Asp359His) | |
2 | g.189563791C>T | CA349987544 | SLC40A1 | c.1195G>A (p.Asp399Asn) c.1075G>A (p.Asp359Asn) | |
2 | g.189563792C>A | CA430502740 | SLC40A1 | c.1194G>T (p.Leu398=) c.1074G>T (p.Leu358=) | |
2 | g.189563792C>G | CA430502741 | SLC40A1 | c.1194G>C (p.Leu398=) c.1074G>C (p.Leu358=) | |
2 | g.189563792C>T | CA430502743 | SLC40A1 | c.1194G>A (p.Leu398=) c.1074G>A (p.Leu358=) | |
2 | g.189563793A>C | CA349987545 | SLC40A1 | c.1193T>G (p.Leu398Arg) c.1073T>G (p.Leu358Arg) | |
2 | g.189563793A>G | CA349987546 | SLC40A1 | c.1193T>C (p.Leu398Pro) c.1073T>C (p.Leu358Pro) | |
2 | g.189563793A>T | CA349987547 | SLC40A1 | c.1193T>A (p.Leu398Gln) c.1073T>A (p.Leu358Gln) | |
2 | g.189563793_189563794delinsAG | CA1315654038 | SLC40A1 | c.1192_1193delinsCT (p.Leu398=) c.1072_1073delinsCT (p.Leu358=) | |
2 | g.189563794G>A | CA430502750 | SLC40A1 | c.1192C>T (p.Leu398=) c.1072C>T (p.Leu358=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563794G>C | CA349987548 | SLC40A1 | c.1192C>G (p.Leu398Val) c.1072C>G (p.Leu358Val) | gnomAD v4 |
2 | g.189563794G= | CA1315654043 | SLC40A1 | c.1192C= (p.Leu398=) c.1072C= (p.Leu358=) | |
2 | g.189563794G>T | CA349987549 | SLC40A1 | c.1192C>A (p.Leu398Met) c.1072C>A (p.Leu358Met) | |
2 | g.189563798dup | CA2832543736 | SLC40A1 | c.1192dup (p.Leu398ProfsTer9) c.1072dup (p.Leu358ProfsTer9) | |
2 | g.189563798del | CA430502749 | SLC40A1 | c.1192del (p.Leu398TrpfsTer?) c.1072del (p.Leu358TrpfsTer?) | dbSNP COSMIC |
2 | g.189563795G>A | CA430502752 | SLC40A1 | c.1191C>T (p.Pro397=) c.1071C>T (p.Pro357=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563795G>C | CA430502753 | SLC40A1 | c.1191C>G (p.Pro397=) c.1071C>G (p.Pro357=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563795G= | CA1315654047 | SLC40A1 | c.1191C= (p.Pro397=) c.1071C= (p.Pro357=) | |
2 | g.189563795G>T | CA430502754 | SLC40A1 | c.1191C>A (p.Pro397=) c.1071C>A (p.Pro357=) | |
2 | g.189563796G>A | CA349987550 | SLC40A1 | c.1190C>T (p.Pro397Leu) c.1070C>T (p.Pro357Leu) | dbSNP gnomAD v4 |
2 | g.189563796G>C | CA349987552 | SLC40A1 | c.1190C>G (p.Pro397Arg) c.1070C>G (p.Pro357Arg) | gnomAD v4 |
2 | g.189563796G= | CA1315654049 | SLC40A1 | c.1190C= (p.Pro397=) c.1070C= (p.Pro357=) | |
2 | g.189563796G>T | CA349987551 | SLC40A1 | c.1190C>A (p.Pro397His) c.1070C>A (p.Pro357His) | COSMIC |
2 | g.189563797G>A | CA349987553 | SLC40A1 | c.1189C>T (p.Pro397Ser) c.1069C>T (p.Pro357Ser) | dbSNP |
2 | g.189563797G>C | CA349987554 | SLC40A1 | c.1189C>G (p.Pro397Ala) c.1069C>G (p.Pro357Ala) | |
2 | g.189563797G= | CA1315654053 | SLC40A1 | c.1189C= (p.Pro397=) c.1069C= (p.Pro357=) | |
2 | g.189563797G>T | CA349987555 | SLC40A1 | c.1189C>A (p.Pro397Thr) c.1069C>A (p.Pro357Thr) | |
2 | g.189563798G>A | CA430502759 | SLC40A1 | c.1188C>T (p.Ser396=) c.1068C>T (p.Ser356=) | gnomAD v4 |
2 | g.189563798G>C | CA349987556 | SLC40A1 | c.1188C>G (p.Ser396Arg) c.1068C>G (p.Ser356Arg) | |
2 | g.189563798G>T | CA349987557 | SLC40A1 | c.1188C>A (p.Ser396Arg) c.1068C>A (p.Ser356Arg) | |
2 | g.189563799C>A | CA349987558 | SLC40A1 | c.1187G>T (p.Ser396Ile) c.1067G>T (p.Ser356Ile) | |
2 | g.189563799C>G | CA349987559 | SLC40A1 | c.1187G>C (p.Ser396Thr) c.1067G>C (p.Ser356Thr) | |
2 | g.189563799C>T | CA349987560 | SLC40A1 | c.1187G>A (p.Ser396Asn) c.1067G>A (p.Ser356Asn) | gnomAD v4 |
2 | g.189563800T>A | CA349987561 | SLC40A1 | c.1186A>T (p.Ser396Cys) c.1066A>T (p.Ser356Cys) | |
2 | g.189563800T>C | CA349987562 | SLC40A1 | c.1186A>G (p.Ser396Gly) c.1066A>G (p.Ser356Gly) | |
2 | g.189563800T>G | CA349987563 | SLC40A1 | c.1186A>C (p.Ser396Arg) c.1066A>C (p.Ser356Arg) | |
2 | g.189563801T>A | CA430502765 | SLC40A1 | c.1185A>T (p.Gly395=) c.1065A>T (p.Gly355=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189563801T>C | CA430502767 | SLC40A1 | c.1185A>G (p.Gly395=) c.1065A>G (p.Gly355=) | |
2 | g.189563801T>G | CA430502769 | SLC40A1 | c.1185A>C (p.Gly395=) c.1065A>C (p.Gly355=) | |
2 | g.189563801T= | CA1315654055 | SLC40A1 | c.1185A= (p.Gly395=) c.1065A= (p.Gly355=) | |
2 | g.189563802C>A | CA349987565 | SLC40A1 | c.1184G>T (p.Gly395Val) c.1064G>T (p.Gly355Val) | |
2 | g.189563802C= | CA1315654057 | SLC40A1 | c.1184G= (p.Gly395=) c.1064G= (p.Gly355=) | |
2 | g.189563802C>G | CA349987566 | SLC40A1 | c.1184G>C (p.Gly395Ala) c.1064G>C (p.Gly355Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563802C>T | CA349987564 | SLC40A1 | c.1184G>A (p.Gly395Glu) c.1064G>A (p.Gly355Glu) | |
2 | g.189563803C>A | CA349987569 | SLC40A1 | c.1183G>T (p.Gly395Ter) c.1063G>T (p.Gly355Ter) | |
2 | g.189563803C>G | CA349987567 | SLC40A1 | c.1183G>C (p.Gly395Arg) c.1063G>C (p.Gly355Arg) | |
2 | g.189563803C>T | CA349987568 | SLC40A1 | c.1183G>A (p.Gly395Arg) c.1063G>A (p.Gly355Arg) | |
2 | g.189563804A>C | CA430502772 | SLC40A1 | c.1182T>G (p.Pro394=) c.1062T>G (p.Pro354=) | |
2 | g.189563804A>G | CA430502773 | SLC40A1 | c.1182T>C (p.Pro394=) c.1062T>C (p.Pro354=) | gnomAD v4 |
2 | g.189563804A>T | CA430502775 | SLC40A1 | c.1182T>A (p.Pro394=) c.1062T>A (p.Pro354=) | |
2 | g.189563805G>A | CA349987570 | SLC40A1 | c.1181C>T (p.Pro394Leu) c.1061C>T (p.Pro354Leu) | gnomAD v4 |
2 | g.189563805G>C | CA349987571 | SLC40A1 | c.1181C>G (p.Pro394Arg) c.1061C>G (p.Pro354Arg) | |
2 | g.189563805G>T | CA349987572 | SLC40A1 | c.1181C>A (p.Pro394His) c.1061C>A (p.Pro354His) | |
2 | g.189563806G>A | CA349987573 | SLC40A1 | c.1180C>T (p.Pro394Ser) c.1060C>T (p.Pro354Ser) | gnomAD v4 |
2 | g.189563806G>C | CA349987574 | SLC40A1 | c.1180C>G (p.Pro394Ala) c.1060C>G (p.Pro354Ala) | |
2 | g.189563806G>T | CA349987575 | SLC40A1 | c.1180C>A (p.Pro394Thr) c.1060C>A (p.Pro354Thr) | |
2 | g.189563807C>A | CA349987576 | SLC40A1 | c.1179G>T (p.Met393Ile) c.1059G>T (p.Met353Ile) | |
2 | g.189563807C= | CA1315654060 | SLC40A1 | c.1179G= (p.Met393=) c.1059G= (p.Met353=) | |
2 | g.189563807C>G | CA349987577 | SLC40A1 | c.1179G>C (p.Met393Ile) c.1059G>C (p.Met353Ile) | |
2 | g.189563807C>T | CA349987578 | SLC40A1 | c.1179G>A (p.Met393Ile) c.1059G>A (p.Met353Ile) | dbSNP |
2 | g.189563808A= | CA1315654062 | SLC40A1 | c.1178T= (p.Met393=) c.1058T= (p.Met353=) | |
2 | g.189563808A>C | CA349987581 | SLC40A1 | c.1178T>G (p.Met393Arg) c.1058T>G (p.Met353Arg) | |
2 | g.189563808A>G | CA349987580 | SLC40A1 | c.1178T>C (p.Met393Thr) c.1058T>C (p.Met353Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189563808A>T | CA349987579 | SLC40A1 | c.1178T>A (p.Met393Lys) c.1058T>A (p.Met353Lys) | |
2 | g.189563809T>A | CA349987582 | SLC40A1 | c.1177A>T (p.Met393Leu) c.1057A>T (p.Met353Leu) | |
2 | g.189563809T>C | CA62902890 | SLC40A1 | c.1177A>G (p.Met393Val) c.1057A>G (p.Met353Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563809T>G | CA349987583 | SLC40A1 | c.1177A>C (p.Met393Leu) c.1057A>C (p.Met353Leu) | |
2 | g.189563809T= | CA1315654064 | SLC40A1 | c.1177A= (p.Met393=) c.1057A= (p.Met353=) | |
2 | g.189563810G>A | CA62902891 | SLC40A1 | c.1176C>T (p.Phe392=) c.1056C>T (p.Phe352=) | dbSNP gnomAD v2 |
2 | g.189563810G>C | CA349987584 | SLC40A1 | c.1176C>G (p.Phe392Leu) c.1056C>G (p.Phe352Leu) | |
2 | g.189563810G= | CA1315654066 | SLC40A1 | c.1176C= (p.Phe392=) c.1056C= (p.Phe352=) | |
2 | g.189563810G>T | CA349987585 | SLC40A1 | c.1176C>A (p.Phe392Leu) c.1056C>A (p.Phe352Leu) | |
2 | g.189563811A>C | CA349987586 | SLC40A1 | c.1175T>G (p.Phe392Cys) c.1055T>G (p.Phe352Cys) | |
2 | g.189563811A>G | CA349987587 | SLC40A1 | c.1175T>C (p.Phe392Ser) c.1055T>C (p.Phe352Ser) | gnomAD v4 |
2 | g.189563811A>T | CA349987588 | SLC40A1 | c.1175T>A (p.Phe392Tyr) c.1055T>A (p.Phe352Tyr) | |
2 | g.189563812A>C | CA349987589 | SLC40A1 | c.1174T>G (p.Phe392Val) c.1054T>G (p.Phe352Val) | |
2 | g.189563812A>G | CA349987590 | SLC40A1 | c.1174T>C (p.Phe392Leu) c.1054T>C (p.Phe352Leu) | |
2 | g.189563812A>T | CA349987591 | SLC40A1 | c.1174T>A (p.Phe392Ile) c.1054T>A (p.Phe352Ile) | |
2 | g.189563813T>A | CA430502797 | SLC40A1 | c.1173A>T (p.Val391=) c.1053A>T (p.Val351=) | |
2 | g.189563813T>C | CA430502798 | SLC40A1 | c.1173A>G (p.Val391=) c.1053A>G (p.Val351=) | |
2 | g.189563813T>G | CA430502800 | SLC40A1 | c.1173A>C (p.Val391=) c.1053A>C (p.Val351=) | |
2 | g.189563814A>C | CA349987593 | SLC40A1 | c.1172T>G (p.Val391Gly) c.1052T>G (p.Val351Gly) | |
2 | g.189563814A>G | CA349987594 | SLC40A1 | c.1172T>C (p.Val391Ala) c.1052T>C (p.Val351Ala) | |
2 | g.189563814A>T | CA349987592 | SLC40A1 | c.1172T>A (p.Val391Glu) c.1052T>A (p.Val351Glu) | |
2 | g.189563815C>A | CA349987595 | SLC40A1 | c.1171G>T (p.Val391Leu) c.1051G>T (p.Val351Leu) | |
2 | g.189563815C= | CA1315654071 | SLC40A1 | c.1171G= (p.Val391=) c.1051G= (p.Val351=) | |
2 | g.189563815C>G | CA62902892 | SLC40A1 | c.1171G>C (p.Val391Leu) c.1051G>C (p.Val351Leu) | dbSNP |
2 | g.189563815C>T | CA2024108 | SLC40A1 | c.1171G>A (p.Val391Ile) c.1051G>A (p.Val351Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563816A= | CA1315654074 | SLC40A1 | c.1170T= (p.Ser390=) c.1050T= (p.Ser350=) | |
2 | g.189563816A>C | CA430502805 | SLC40A1 | c.1170T>G (p.Ser390=) c.1050T>G (p.Ser350=) | |
2 | g.189563816A>G | CA430502807 | SLC40A1 | c.1170T>C (p.Ser390=) c.1050T>C (p.Ser350=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563816A>T | CA430502808 | SLC40A1 | c.1170T>A (p.Ser390=) c.1050T>A (p.Ser350=) | |
2 | g.189563817G>A | CA349987596 | SLC40A1 | c.1169C>T (p.Ser390Phe) c.1049C>T (p.Ser350Phe) | dbSNP COSMIC |
2 | g.189563817G>C | CA349987597 | SLC40A1 | c.1169C>G (p.Ser390Cys) c.1049C>G (p.Ser350Cys) | |
2 | g.189563817G= | CA1315654076 | SLC40A1 | c.1169C= (p.Ser390=) c.1049C= (p.Ser350=) | |
2 | g.189563817G>T | CA349987598 | SLC40A1 | c.1169C>A (p.Ser390Tyr) c.1049C>A (p.Ser350Tyr) | |
2 | g.189563818A>C | CA349987599 | SLC40A1 | c.1168T>G (p.Ser390Ala) c.1048T>G (p.Ser350Ala) | |
2 | g.189563818A>G | CA349987600 | SLC40A1 | c.1168T>C (p.Ser390Pro) c.1048T>C (p.Ser350Pro) | |
2 | g.189563818A>T | CA349987601 | SLC40A1 | c.1168T>A (p.Ser390Thr) c.1048T>A (p.Ser350Thr) | |
2 | g.189563819G>A | CA430502822 | SLC40A1 | c.1167C>T (p.Ile389=) c.1047C>T (p.Ile349=) | |
2 | g.189563819G>C | CA349987602 | SLC40A1 | c.1167C>G (p.Ile389Met) c.1047C>G (p.Ile349Met) | |
2 | g.189563819G>T | CA430502823 | SLC40A1 | c.1167C>A (p.Ile389=) c.1047C>A (p.Ile349=) | |
2 | g.189563820A>C | CA349987603 | SLC40A1 | c.1166T>G (p.Ile389Ser) c.1046T>G (p.Ile349Ser) | |
2 | g.189563820A>G | CA349987604 | SLC40A1 | c.1166T>C (p.Ile389Thr) c.1046T>C (p.Ile349Thr) | |
2 | g.189563820A>T | CA349987605 | SLC40A1 | c.1166T>A (p.Ile389Asn) c.1046T>A (p.Ile349Asn) | |
2 | g.189563821T>A | CA349987608 | SLC40A1 | c.1165A>T (p.Ile389Phe) c.1045A>T (p.Ile349Phe) | |
2 | g.189563821T>C | CA349987607 | SLC40A1 | c.1165A>G (p.Ile389Val) c.1045A>G (p.Ile349Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563821T>G | CA349987606 | SLC40A1 | c.1165A>C (p.Ile389Leu) c.1045A>C (p.Ile349Leu) | |
2 | g.189563821T= | CA1315654079 | SLC40A1 | c.1165A= (p.Ile389=) c.1045A= (p.Ile349=) | |
2 | g.189563822C>A | CA430502837 | SLC40A1 | c.1164G>T (p.Val388=) c.1044G>T (p.Val348=) | |
2 | g.189563822C>G | CA430502839 | SLC40A1 | c.1164G>C (p.Val388=) c.1044G>C (p.Val348=) | |
2 | g.189563822C>T | CA430502841 | SLC40A1 | c.1164G>A (p.Val388=) c.1044G>A (p.Val348=) | |
2 | g.189563823A>C | CA349987609 | SLC40A1 | c.1163T>G (p.Val388Gly) c.1043T>G (p.Val348Gly) | |
2 | g.189563823A>G | CA349987610 | SLC40A1 | c.1163T>C (p.Val388Ala) c.1043T>C (p.Val348Ala) | gnomAD v4 |
2 | g.189563823A>T | CA349987611 | SLC40A1 | c.1163T>A (p.Val388Glu) c.1043T>A (p.Val348Glu) | |
2 | g.189563824C>A | CA349987612 | SLC40A1 | c.1162G>T (p.Val388Leu) c.1042G>T (p.Val348Leu) | |
2 | g.189563824C>G | CA349987613 | SLC40A1 | c.1162G>C (p.Val388Leu) c.1042G>C (p.Val348Leu) | |
2 | g.189563824C>T | CA349987614 | SLC40A1 | c.1162G>A (p.Val388Met) c.1042G>A (p.Val348Met) | |
2 | g.189563825A>C | CA349987615 | SLC40A1 | c.1161T>G (p.Cys387Trp) c.1041T>G (p.Cys347Trp) | |
2 | g.189563825A>G | CA430502848 | SLC40A1 | c.1161T>C (p.Cys387=) c.1041T>C (p.Cys347=) | |
2 | g.189563825A>T | CA349987616 | SLC40A1 | c.1161T>A (p.Cys387Ter) c.1041T>A (p.Cys347Ter) | |
2 | g.189563826C>A | CA349987617 | SLC40A1 | c.1160G>T (p.Cys387Phe) c.1040G>T (p.Cys347Phe) | |
2 | g.189563826C>G | CA349987618 | SLC40A1 | c.1160G>C (p.Cys387Ser) c.1040G>C (p.Cys347Ser) | |
2 | g.189563826C>T | CA349987619 | SLC40A1 | c.1160G>A (p.Cys387Tyr) c.1040G>A (p.Cys347Tyr) | |
2 | g.189563827A>C | CA349987620 | SLC40A1 | c.1159T>G (p.Cys387Gly) c.1039T>G (p.Cys347Gly) | |
2 | g.189563827A>G | CA349987621 | SLC40A1 | c.1159T>C (p.Cys387Arg) c.1039T>C (p.Cys347Arg) | |
2 | g.189563827A>T | CA349987622 | SLC40A1 | c.1159T>A (p.Cys387Ser) c.1039T>A (p.Cys347Ser) | |
2 | g.189563828C>A | CA2024109 | SLC40A1 | c.1158G>T (p.Leu386Phe) c.1038G>T (p.Leu346Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563828C= | CA1315654082 | SLC40A1 | c.1158G= (p.Leu386=) c.1038G= (p.Leu346=) | |
2 | g.189563828C>G | CA349987623 | SLC40A1 | c.1158G>C (p.Leu386Phe) c.1038G>C (p.Leu346Phe) | dbSNP |
2 | g.189563828C>T | CA430502855 | SLC40A1 | c.1158G>A (p.Leu386=) c.1038G>A (p.Leu346=) | |
2 | g.189563829A>C | CA349987624 | SLC40A1 | c.1157T>G (p.Leu386Trp) c.1037T>G (p.Leu346Trp) | gnomAD v4 |
2 | g.189563829A>G | CA349987626 | SLC40A1 | c.1157T>C (p.Leu386Ser) c.1037T>C (p.Leu346Ser) | |
2 | g.189563829A>T | CA349987625 | SLC40A1 | c.1157T>A (p.Leu386Ter) c.1037T>A (p.Leu346Ter) | |
2 | g.189563830A= | CA1315654084 | SLC40A1 | c.1156T= (p.Leu386=) c.1036T= (p.Leu346=) | |
2 | g.189563830A>C | CA349987627 | SLC40A1 | c.1156T>G (p.Leu386Val) c.1036T>G (p.Leu346Val) | |
2 | g.189563830A>G | CA430502861 | SLC40A1 | c.1156T>C (p.Leu386=) c.1036T>C (p.Leu346=) | dbSNP |
2 | g.189563830A>T | CA2024110 | SLC40A1 | c.1156T>A (p.Leu386Met) c.1036T>A (p.Leu346Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563831G>A | CA430502865 | SLC40A1 | c.1155C>T (p.Ile385=) c.1035C>T (p.Ile345=) | |
2 | g.189563831G>C | CA349987628 | SLC40A1 | c.1155C>G (p.Ile385Met) c.1035C>G (p.Ile345Met) | |
2 | g.189563831G>T | CA430502864 | SLC40A1 | c.1155C>A (p.Ile385=) c.1035C>A (p.Ile345=) | |
2 | g.189563832A= | CA1315654086 | SLC40A1 | c.1154T= (p.Ile385=) c.1034T= (p.Ile345=) | |
2 | g.189563832A>C | CA349987629 | SLC40A1 | c.1154T>G (p.Ile385Ser) c.1034T>G (p.Ile345Ser) | |
2 | g.189563832A>G | CA2024111 | SLC40A1 | c.1154T>C (p.Ile385Thr) c.1034T>C (p.Ile345Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563832A>T | CA349987630 | SLC40A1 | c.1154T>A (p.Ile385Asn) c.1034T>A (p.Ile345Asn) | |
2 | g.189563833T>A | CA349987631 | SLC40A1 | c.1153A>T (p.Ile385Phe) c.1033A>T (p.Ile345Phe) | gnomAD v4 |
2 | g.189563833T>C | CA349987632 | SLC40A1 | c.1153A>G (p.Ile385Val) c.1033A>G (p.Ile345Val) | |
2 | g.189563833T>G | CA349987633 | SLC40A1 | c.1153A>C (p.Ile385Leu) c.1033A>C (p.Ile345Leu) | |
2 | g.189563834C>A | CA349987634 | SLC40A1 | c.1152G>T (p.Leu384Phe) c.1032G>T (p.Leu344Phe) | |
2 | g.189563834C= | CA1315654090 | SLC40A1 | c.1152G= (p.Leu384=) c.1032G= (p.Leu344=) | |
2 | g.189563834C>G | CA349987635 | SLC40A1 | c.1152G>C (p.Leu384Phe) c.1032G>C (p.Leu344Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563834C>T | CA430502868 | SLC40A1 | c.1152G>A (p.Leu384=) c.1032G>A (p.Leu344=) | |
2 | g.189563835A>C | CA349987636 | SLC40A1 | c.1151T>G (p.Leu384Trp) c.1031T>G (p.Leu344Trp) | ClinVar dbSNP |
2 | g.189563835A>G | CA349987637 | SLC40A1 | c.1151T>C (p.Leu384Ser) c.1031T>C (p.Leu344Ser) | |
2 | g.189563835A>T | CA349987638 | SLC40A1 | c.1151T>A (p.Leu384Ter) c.1031T>A (p.Leu344Ter) | |
2 | g.189563836A>C | CA349987639 | SLC40A1 | c.1150T>G (p.Leu384Val) c.1030T>G (p.Leu344Val) | |
2 | g.189563836A>G | CA430502872 | SLC40A1 | c.1150T>C (p.Leu384=) c.1030T>C (p.Leu344=) | COSMIC |
2 | g.189563836A>T | CA349987640 | SLC40A1 | c.1150T>A (p.Leu384Met) c.1030T>A (p.Leu344Met) | |
2 | g.189563837A>C | CA349987641 | SLC40A1 | c.1149T>G (p.Cys383Trp) c.1029T>G (p.Cys343Trp) | |
2 | g.189563837A>G | CA430502873 | SLC40A1 | c.1149T>C (p.Cys383=) c.1029T>C (p.Cys343=) | |
2 | g.189563837A>T | CA349987642 | SLC40A1 | c.1149T>A (p.Cys383Ter) c.1029T>A (p.Cys343Ter) | |
2 | g.189563838C>A | CA349987643 | SLC40A1 | c.1148G>T (p.Cys383Phe) c.1028G>T (p.Cys343Phe) | |
2 | g.189563838C= | CA1315654092 | SLC40A1 | c.1148G= (p.Cys383=) c.1028G= (p.Cys343=) | |
2 | g.189563838C>G | CA349987644 | SLC40A1 | c.1148G>C (p.Cys383Ser) c.1028G>C (p.Cys343Ser) | dbSNP gnomAD v4 |
2 | g.189563838C>T | CA349987645 | SLC40A1 | c.1148G>A (p.Cys383Tyr) c.1028G>A (p.Cys343Tyr) | |
2 | g.189563839A>C | CA349987646 | SLC40A1 | c.1147T>G (p.Cys383Gly) c.1027T>G (p.Cys343Gly) | |
2 | g.189563839A>G | CA349987647 | SLC40A1 | c.1147T>C (p.Cys383Arg) c.1027T>C (p.Cys343Arg) | |
2 | g.189563839A>T | CA349987648 | SLC40A1 | c.1147T>A (p.Cys383Ser) c.1027T>A (p.Cys343Ser) | |
2 | g.189563840G>A | CA430502875 | SLC40A1 | c.1146C>T (p.Ser382=) c.1026C>T (p.Ser342=) | |
2 | g.189563840G>C | CA430502876 | SLC40A1 | c.1146C>G (p.Ser382=) c.1026C>G (p.Ser342=) | |
2 | g.189563840G>T | CA430502877 | SLC40A1 | c.1146C>A (p.Ser382=) c.1026C>A (p.Ser342=) | |
2 | g.189563841dup | CA645519888 | SLC40A1 | c.1146dup (p.Cys383LeufsTer24) c.1026dup (p.Cys343LeufsTer24) | COSMIC |
2 | g.189563841G>A | CA349987649 | SLC40A1 | c.1145C>T (p.Ser382Phe) c.1025C>T (p.Ser342Phe) | gnomAD v4 |
2 | g.189563841G>C | CA349987650 | SLC40A1 | c.1145C>G (p.Ser382Cys) c.1025C>G (p.Ser342Cys) | |
2 | g.189563841G>T | CA349987651 | SLC40A1 | c.1145C>A (p.Ser382Tyr) c.1025C>A (p.Ser342Tyr) | |
2 | g.189563842A>C | CA349987653 | SLC40A1 | c.1144T>G (p.Ser382Ala) c.1024T>G (p.Ser342Ala) | |
2 | g.189563842A>G | CA349987654 | SLC40A1 | c.1144T>C (p.Ser382Pro) c.1024T>C (p.Ser342Pro) | |
2 | g.189563842A>T | CA349987652 | SLC40A1 | c.1144T>A (p.Ser382Thr) c.1024T>A (p.Ser342Thr) |