Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189563750_189563813dup | CA2607006871 | SLC40A1 | c.1178_1241dup (p.Gln414HisfsTer14) c.1058_1121dup (p.Gln374HisfsTer14) | gnomAD v3 gnomAD v4 |
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.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) | |
2 | g.189563843A>C | CA430502880 | SLC40A1 | c.1143T>G (p.Leu381=) c.1023T>G (p.Leu341=) | |
2 | g.189563843A>G | CA430502881 | SLC40A1 | c.1143T>C (p.Leu381=) c.1023T>C (p.Leu341=) | |
2 | g.189563843A>T | CA430502882 | SLC40A1 | c.1143T>A (p.Leu381=) c.1023T>A (p.Leu341=) | |
2 | g.189563844A>C | CA349987655 | SLC40A1 | c.1142T>G (p.Leu381Arg) c.1022T>G (p.Leu341Arg) | |
2 | g.189563844A>G | CA349987656 | SLC40A1 | c.1142T>C (p.Leu381Pro) c.1022T>C (p.Leu341Pro) | |
2 | g.189563844A>T | CA349987657 | SLC40A1 | c.1142T>A (p.Leu381His) c.1022T>A (p.Leu341His) | |
2 | g.189563845G>A | CA349987658 | SLC40A1 | c.1141C>T (p.Leu381Phe) c.1021C>T (p.Leu341Phe) | |
2 | g.189563845G>C | CA349987659 | SLC40A1 | c.1141C>G (p.Leu381Val) c.1021C>G (p.Leu341Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189563845G= | CA1315654094 | SLC40A1 | c.1141C= (p.Leu381=) c.1021C= (p.Leu341=) | |
2 | g.189563845G>T | CA62902893 | SLC40A1 | c.1141C>A (p.Leu381Ile) c.1021C>A (p.Leu341Ile) | dbSNP gnomAD v4 |
2 | g.189563846C>A | CA349987661 | SLC40A1 | c.1140G>T (p.Gln380His) c.1020G>T (p.Gln340His) | |
2 | g.189563846C>G | CA349987660 | SLC40A1 | c.1140G>C (p.Gln380His) c.1020G>C (p.Gln340His) | |
2 | g.189563846C>T | CA430502885 | SLC40A1 | c.1140G>A (p.Gln380=) c.1020G>A (p.Gln340=) | |
2 | g.189563847T>A | CA349987662 | SLC40A1 | c.1139A>T (p.Gln380Leu) c.1019A>T (p.Gln340Leu) | |
2 | g.189563847T>C | CA349987663 | SLC40A1 | c.1139A>G (p.Gln380Arg) c.1019A>G (p.Gln340Arg) | |
2 | g.189563847T>G | CA349987664 | SLC40A1 | c.1139A>C (p.Gln380Pro) c.1019A>C (p.Gln340Pro) | |
2 | g.189563848G>A | CA349987665 | SLC40A1 | c.1138C>T (p.Gln380Ter) c.1018C>T (p.Gln340Ter) | gnomAD v4 |
2 | g.189563848G>C | CA2024112 | SLC40A1 | c.1138C>G (p.Gln380Glu) c.1018C>G (p.Gln340Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563848G= | CA1315654096 | SLC40A1 | c.1138C= (p.Gln380=) c.1018C= (p.Gln340=) | |
2 | g.189563848G>T | CA349987666 | SLC40A1 | c.1138C>A (p.Gln380Lys) c.1018C>A (p.Gln340Lys) | |
2 | g.189563849T>A | CA430502888 | SLC40A1 | c.1137A>T (p.Ala379=) c.1017A>T (p.Ala339=) | |
2 | g.189563849T>C | CA430502889 | SLC40A1 | c.1137A>G (p.Ala379=) c.1017A>G (p.Ala339=) | dbSNP |
2 | g.189563849T>G | CA430502890 | SLC40A1 | c.1137A>C (p.Ala379=) c.1017A>C (p.Ala339=) | |
2 | g.189563849T= | CA1315654099 | SLC40A1 | c.1137A= (p.Ala379=) c.1017A= (p.Ala339=) | |
2 | g.189563850G>A | CA349987667 | SLC40A1 | c.1136C>T (p.Ala379Val) c.1016C>T (p.Ala339Val) | |
2 | g.189563850G>C | CA349987669 | SLC40A1 | c.1136C>G (p.Ala379Gly) c.1016C>G (p.Ala339Gly) | |
2 | g.189563850G>T | CA349987668 | SLC40A1 | c.1136C>A (p.Ala379Glu) c.1016C>A (p.Ala339Glu) | |
2 | g.189563851C>A | CA349987670 | SLC40A1 | c.1135G>T (p.Ala379Ser) c.1015G>T (p.Ala339Ser) | |
2 | g.189563851C>G | CA349987671 | SLC40A1 | c.1135G>C (p.Ala379Pro) c.1015G>C (p.Ala339Pro) | |
2 | g.189563851C>T | CA349987672 | SLC40A1 | c.1135G>A (p.Ala379Thr) c.1015G>A (p.Ala339Thr) | |
2 | g.189563852C>A | CA349987673 | SLC40A1 | c.1134G>T (p.Leu378Phe) c.1014G>T (p.Leu338Phe) | |
2 | g.189563852C>G | CA349987674 | SLC40A1 | c.1134G>C (p.Leu378Phe) c.1014G>C (p.Leu338Phe) | |
2 | g.189563852C>T | CA430502891 | SLC40A1 | c.1134G>A (p.Leu378=) c.1014G>A (p.Leu338=) | |
2 | g.189563853A>C | CA349987675 | SLC40A1 | c.1133T>G (p.Leu378Trp) c.1013T>G (p.Leu338Trp) | |
2 | g.189563853A>G | CA349987676 | SLC40A1 | c.1133T>C (p.Leu378Ser) c.1013T>C (p.Leu338Ser) | |
2 | g.189563853A>T | CA349987677 | SLC40A1 | c.1133T>A (p.Leu378Ter) c.1013T>A (p.Leu338Ter) | |
2 | g.189563854A= | CA1315654103 | SLC40A1 | c.1132T= (p.Leu378=) c.1012T= (p.Leu338=) | |
2 | g.189563854A>C | CA349987678 | SLC40A1 | c.1132T>G (p.Leu378Val) c.1012T>G (p.Leu338Val) | |
2 | g.189563854A>G | CA2024113 | SLC40A1 | c.1132T>C (p.Leu378=) c.1012T>C (p.Leu338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563854A>T | CA349987679 | SLC40A1 | c.1132T>A (p.Leu378Met) c.1012T>A (p.Leu338Met) | |
2 | g.189563854_189563855insGATGGATGGGTC | CA2753593825 | SLC40A1 | c.1131_1132insGACCCATCCATC (p.Gly377_Leu378insAspProSerIle) c.1011_1012insGACCCATCCATC (p.Gly337_Leu338insAspProSerIle) | |
2 | g.189563855T>A | CA430502892 | SLC40A1 | c.1131A>T (p.Gly377=) c.1011A>T (p.Gly337=) | |
2 | g.189563855T>C | CA430502893 | SLC40A1 | c.1131A>G (p.Gly377=) c.1011A>G (p.Gly337=) | |
2 | g.189563855T>G | CA430502894 | SLC40A1 | c.1131A>C (p.Gly377=) c.1011A>C (p.Gly337=) | ClinVar dbSNP gnomAD v4 |
2 | g.189563855T= | CA1315654108 | SLC40A1 | c.1131A= (p.Gly377=) c.1011A= (p.Gly337=) | |
2 | g.189563856C>A | CA349987682 | SLC40A1 | c.1130G>T (p.Gly377Val) c.1010G>T (p.Gly337Val) | |
2 | g.189563856C>G | CA349987681 | SLC40A1 | c.1130G>C (p.Gly377Ala) c.1010G>C (p.Gly337Ala) | |
2 | g.189563856C>T | CA349987680 | SLC40A1 | c.1130G>A (p.Gly377Glu) c.1010G>A (p.Gly337Glu) | |
2 | g.189563857C>A | CA349987683 | SLC40A1 | c.1129G>T (p.Gly377Ter) c.1009G>T (p.Gly337Ter) | |
2 | g.189563857C>G | CA349987685 | SLC40A1 | c.1129G>C (p.Gly377Arg) c.1009G>C (p.Gly337Arg) | |
2 | g.189563857C>T | CA349987684 | SLC40A1 | c.1129G>A (p.Gly377Arg) c.1009G>A (p.Gly337Arg) | COSMIC |
2 | g.189563858T>A | CA430502897 | SLC40A1 | c.1128A>T (p.Ser376=) c.1008A>T (p.Ser336=) | dbSNP gnomAD v2 |
2 | g.189563858T>C | CA430502896 | SLC40A1 | c.1128A>G (p.Ser376=) c.1008A>G (p.Ser336=) | |
2 | g.189563858T>G | CA430502895 | SLC40A1 | c.1128A>C (p.Ser376=) c.1008A>C (p.Ser336=) | |
2 | g.189563858T= | CA1315654110 | SLC40A1 | c.1128A= (p.Ser376=) c.1008A= (p.Ser336=) | |
2 | g.189563859G>A | CA349987686 | SLC40A1 | c.1127C>T (p.Ser376Leu) c.1007C>T (p.Ser336Leu) | |
2 | g.189563859G>C | CA349987687 | SLC40A1 | c.1127C>G (p.Ser376Ter) c.1007C>G (p.Ser336Ter) | |
2 | g.189563859G>T | CA349987688 | SLC40A1 | c.1127C>A (p.Ser376Ter) c.1007C>A (p.Ser336Ter) | |
2 | g.189563860A>C | CA349987689 | SLC40A1 | c.1126T>G (p.Ser376Ala) c.1006T>G (p.Ser336Ala) | |
2 | g.189563860A>G | CA349987690 | SLC40A1 | c.1126T>C (p.Ser376Pro) c.1006T>C (p.Ser336Pro) | |
2 | g.189563860A>T | CA349987691 | SLC40A1 | c.1126T>A (p.Ser376Thr) c.1006T>A (p.Ser336Thr) | |
2 | g.189563861G>A | CA430502898 | SLC40A1 | c.1125C>T (p.Ile375=) c.1005C>T (p.Ile335=) | dbSNP |
2 | g.189563861G>C | CA349987692 | SLC40A1 | c.1125C>G (p.Ile375Met) c.1005C>G (p.Ile335Met) | gnomAD v4 |
2 | g.189563861G= | CA1315654112 | SLC40A1 | c.1125C= (p.Ile375=) c.1005C= (p.Ile335=) | |
2 | g.189563861G>T | CA430502899 | SLC40A1 | c.1125C>A (p.Ile375=) c.1005C>A (p.Ile335=) | gnomAD v4 |
2 | g.189563862A>C | CA349987693 | SLC40A1 | c.1124T>G (p.Ile375Ser) c.1004T>G (p.Ile335Ser) | |
2 | g.189563862A>G | CA349987694 | SLC40A1 | c.1124T>C (p.Ile375Thr) c.1004T>C (p.Ile335Thr) | |
2 | g.189563862A>T | CA349987695 | SLC40A1 | c.1124T>A (p.Ile375Asn) c.1004T>A (p.Ile335Asn) | |
2 | g.189563863T>A | CA2024115 | SLC40A1 | c.1123A>T (p.Ile375Phe) c.1003A>T (p.Ile335Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563863T>C | CA2024114 | SLC40A1 | c.1123A>G (p.Ile375Val) c.1003A>G (p.Ile335Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563863T>G | CA349987696 | SLC40A1 | c.1123A>C (p.Ile375Leu) c.1003A>C (p.Ile335Leu) | |
2 | g.189563863T= | CA1315654114 | SLC40A1 | c.1123A= (p.Ile375=) c.1003A= (p.Ile335=) | |
2 | g.189563864C>A | CA430502900 | SLC40A1 | c.1122G>T (p.Leu374=) c.1002G>T (p.Leu334=) | |
2 | g.189563864C>G | CA430502902 | SLC40A1 | c.1122G>C (p.Leu374=) c.1002G>C (p.Leu334=) | |
2 | g.189563864C>T | CA430502901 | SLC40A1 | c.1122G>A (p.Leu374=) c.1002G>A (p.Leu334=) | |
2 | g.189563865A>C | CA349987697 | SLC40A1 | c.1121T>G (p.Leu374Arg) c.1001T>G (p.Leu334Arg) | COSMIC |
2 | g.189563865A>G | CA349987698 | SLC40A1 | c.1121T>C (p.Leu374Pro) c.1001T>C (p.Leu334Pro) | |
2 | g.189563865A>T | CA349987699 | SLC40A1 | c.1121T>A (p.Leu374Gln) c.1001T>A (p.Leu334Gln) | |
2 | g.189563866G>A | CA430502903 | SLC40A1 | c.1120C>T (p.Leu374=) c.1000C>T (p.Leu334=) | |
2 | g.189563866G>C | CA2024116 | SLC40A1 | c.1120C>G (p.Leu374Val) c.1000C>G (p.Leu334Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563866G= | CA1315654118 | SLC40A1 | c.1120C= (p.Leu374=) c.1000C= (p.Leu334=) | |
2 | g.189563866G>T | CA349987700 | SLC40A1 | c.1120C>A (p.Leu374Met) c.1000C>A (p.Leu334Met) | |
2 | g.189563867A= | CA1315654121 | SLC40A1 | c.1119T= (p.Gly373=) c.999T= (p.Gly333=) | |
2 | g.189563867A>C | CA430502904 | SLC40A1 | c.1119T>G (p.Gly373=) c.999T>G (p.Gly333=) | gnomAD v4 |
2 | g.189563867A>G | CA430502905 | SLC40A1 | c.1119T>C (p.Gly373=) c.999T>C (p.Gly333=) | |
2 | g.189563867A>T | CA2024117 | SLC40A1 | c.1119T>A (p.Gly373=) c.999T>A (p.Gly333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563868C>A | CA349987701 | SLC40A1 | c.1118G>T (p.Gly373Val) c.998G>T (p.Gly333Val) | |
2 | g.189563868C>G | CA349987702 | SLC40A1 | c.1118G>C (p.Gly373Ala) c.998G>C (p.Gly333Ala) | |
2 | g.189563868C>T | CA349987703 | SLC40A1 | c.1118G>A (p.Gly373Asp) c.998G>A (p.Gly333Asp) | |
2 | g.189563869C>A | CA349987704 | SLC40A1 | c.1117G>T (p.Gly373Cys) c.997G>T (p.Gly333Cys) | gnomAD v4 |
2 | g.189563869C= | CA1315654124 | SLC40A1 | c.1117G= (p.Gly373=) c.997G= (p.Gly333=) | |
2 | g.189563869C>G | CA349987705 | SLC40A1 | c.1117G>C (p.Gly373Arg) c.997G>C (p.Gly333Arg) | |
2 | g.189563869C>T | CA349987706 | SLC40A1 | c.1117G>A (p.Gly373Ser) c.997G>A (p.Gly333Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189563870T>A | CA430502906 | SLC40A1 | c.1116A>T (p.Thr372=) c.996A>T (p.Thr332=) | |
2 | g.189563870T>C | CA430502908 | SLC40A1 | c.1116A>G (p.Thr372=) c.996A>G (p.Thr332=) | |
2 | g.189563870T>G | CA430502907 | SLC40A1 | c.1116A>C (p.Thr372=) c.996A>C (p.Thr332=) | gnomAD v4 |
2 | g.189563871G>A | CA349987708 | SLC40A1 | c.1115C>T (p.Thr372Ile) c.995C>T (p.Thr332Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563871G>C | CA349987709 | SLC40A1 | c.1115C>G (p.Thr372Arg) c.995C>G (p.Thr332Arg) | |
2 | g.189563871G= | CA1315654126 | SLC40A1 | c.1115C= (p.Thr372=) c.995C= (p.Thr332=) | |
2 | g.189563871G>T | CA349987707 | SLC40A1 | c.1115C>A (p.Thr372Lys) c.995C>A (p.Thr332Lys) | |
2 | g.189563872T>A | CA349987710 | SLC40A1 | c.1114A>T (p.Thr372Ser) c.994A>T (p.Thr332Ser) | |
2 | g.189563872T>C | CA2024118 | SLC40A1 | c.1114A>G (p.Thr372Ala) c.994A>G (p.Thr332Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563872T>G | CA349987711 | SLC40A1 | c.1114A>C (p.Thr372Pro) c.994A>C (p.Thr332Pro) | |
2 | g.189563872T= | CA1315654130 | SLC40A1 | c.1114A= (p.Thr372=) c.994A= (p.Thr332=) | |
2 | g.189563873C>A | CA430502909 | SLC40A1 | c.1113G>T (p.Arg371=) c.993G>T (p.Arg331=) | |
2 | g.189563873C>G | CA430502910 | SLC40A1 | c.1113G>C (p.Arg371=) c.993G>C (p.Arg331=) | |
2 | g.189563873C>T | CA430502911 | SLC40A1 | c.1113G>A (p.Arg371=) c.993G>A (p.Arg331=) | |
2 | g.189563874del | CA2662328593 | SLC40A1 | c.1113del (p.Thr372GlnfsTer3) c.993del (p.Thr332GlnfsTer3) | gnomAD v4 |
2 | g.189563874C>A | CA349987712 | SLC40A1 | c.1112G>T (p.Arg371Leu) c.992G>T (p.Arg331Leu) | |
2 | g.189563874C= | CA1315654137 | SLC40A1 | c.1112G= (p.Arg371=) c.992G= (p.Arg331=) | |
2 | g.189563874C>G | CA349987713 | SLC40A1 | c.1112G>C (p.Arg371Pro) c.992G>C (p.Arg331Pro) | |
2 | g.189563874C>T | CA215954 | SLC40A1 | c.1112G>A (p.Arg371Gln) c.992G>A (p.Arg331Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563875G>A | CA2024120 | SLC40A1 | c.1111C>T (p.Arg371Trp) c.991C>T (p.Arg331Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.189563875G>C | CA2024119 | SLC40A1 | c.1111C>G (p.Arg371Gly) c.991C>G (p.Arg331Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563875G= | CA1315654141 | SLC40A1 | c.1111C= (p.Arg371=) c.991C= (p.Arg331=) | |
2 | g.189563875G>T | CA62902894 | SLC40A1 | c.1111C>A (p.Arg371=) c.991C>A (p.Arg331=) | dbSNP |
2 | g.189563876A>C | CA430502912 | SLC40A1 | c.1110T>G (p.Val370=) c.990T>G (p.Val330=) | |
2 | g.189563876A>G | CA430502913 | SLC40A1 | c.1110T>C (p.Val370=) c.990T>C (p.Val330=) | |
2 | g.189563876A>T | CA430502914 | SLC40A1 | c.1110T>A (p.Val370=) c.990T>A (p.Val330=) | |
2 | g.189563877A= | CA1315654146 | SLC40A1 | c.1109T= (p.Val370=) c.989T= (p.Val330=) | |
2 | g.189563877A>C | CA62902895 | SLC40A1 | c.1109T>G (p.Val370Gly) c.989T>G (p.Val330Gly) | dbSNP |
2 | g.189563877A>G | CA349987714 | SLC40A1 | c.1109T>C (p.Val370Ala) c.989T>C (p.Val330Ala) | gnomAD v4 |
2 | g.189563877A>T | CA349987715 | SLC40A1 | c.1109T>A (p.Val370Asp) c.989T>A (p.Val330Asp) | |
2 | g.189563878C>A | CA349987716 | SLC40A1 | c.1108G>T (p.Val370Phe) c.988G>T (p.Val330Phe) | gnomAD v4 |
2 | g.189563878C>G | CA349987717 | SLC40A1 | c.1108G>C (p.Val370Leu) c.988G>C (p.Val330Leu) | |
2 | g.189563878C>T | CA349987718 | SLC40A1 | c.1108G>A (p.Val370Ile) c.988G>A (p.Val330Ile) | |
2 | g.189563879C>A | CA349987719 | SLC40A1 | c.1107G>T (p.Leu369Phe) c.987G>T (p.Leu329Phe) | |
2 | g.189563879C>G | CA349987720 | SLC40A1 | c.1107G>C (p.Leu369Phe) c.987G>C (p.Leu329Phe) | |
2 | g.189563879C>T | CA430502915 | SLC40A1 | c.1107G>A (p.Leu369=) c.987G>A (p.Leu329=) | gnomAD v4 |
2 | g.189563880A>C | CA349987721 | SLC40A1 | c.1106T>G (p.Leu369Trp) c.986T>G (p.Leu329Trp) | |
2 | g.189563880A>G | CA349987722 | SLC40A1 | c.1106T>C (p.Leu369Ser) c.986T>C (p.Leu329Ser) | |
2 | g.189563880A>T | CA349987723 | SLC40A1 | c.1106T>A (p.Leu369Ter) c.986T>A (p.Leu329Ter) | |
2 | g.189563881A>C | CA349987724 | SLC40A1 | c.1105T>G (p.Leu369Val) c.985T>G (p.Leu329Val) | |
2 | g.189563881A>G | CA430502916 | SLC40A1 | c.1105T>C (p.Leu369=) c.985T>C (p.Leu329=) | |
2 | g.189563881A>T | CA349987725 | SLC40A1 | c.1105T>A (p.Leu369Met) c.985T>A (p.Leu329Met) | |
2 | g.189563882A>C | CA430502917 | SLC40A1 | c.1104T>G (p.Gly368=) c.984T>G (p.Gly328=) | |
2 | g.189563882A>G | CA430502918 | SLC40A1 | c.1104T>C (p.Gly368=) c.984T>C (p.Gly328=) | |
2 | g.189563882A>T | CA430502919 | SLC40A1 | c.1104T>A (p.Gly368=) c.984T>A (p.Gly328=) | |
2 | g.189563883C>A | CA349987726 | SLC40A1 | c.1103G>T (p.Gly368Val) c.983G>T (p.Gly328Val) | |
2 | g.189563883C>G | CA349987727 | SLC40A1 | c.1103G>C (p.Gly368Ala) c.983G>C (p.Gly328Ala) | |
2 | g.189563883C>T | CA349987728 | SLC40A1 | c.1103G>A (p.Gly368Asp) c.983G>A (p.Gly328Asp) | |
2 | g.189563883_189563884insACACCCAA | CA2753593826 | SLC40A1 | c.1102_1103insTTGGGTGT (p.Gly368ValfsTer10) c.982_983insTTGGGTGT (p.Gly328ValfsTer10) | |
2 | g.189563884C>A | CA349987729 | SLC40A1 | c.1102G>T (p.Gly368Cys) c.982G>T (p.Gly328Cys) | |
2 | g.189563884C>G | CA349987730 | SLC40A1 | c.1102G>C (p.Gly368Arg) c.982G>C (p.Gly328Arg) | |
2 | g.189563884C>T | CA349987731 | SLC40A1 | c.1102G>A (p.Gly368Ser) c.982G>A (p.Gly328Ser) | |
2 | g.189563885A>C | CA349987732 | SLC40A1 | c.1101T>G (p.Cys367Trp) c.981T>G (p.Cys327Trp) | |
2 | g.189563885A>G | CA430502920 | SLC40A1 | c.1101T>C (p.Cys367=) c.981T>C (p.Cys327=) | gnomAD v4 |
2 | g.189563885A>T | CA349987733 | SLC40A1 | c.1101T>A (p.Cys367Ter) c.981T>A (p.Cys327Ter) | |
2 | g.189563886C>A | CA349987734 | SLC40A1 | c.1100G>T (p.Cys367Phe) c.980G>T (p.Cys327Phe) | dbSNP |
2 | g.189563886C= | CA1315654148 | SLC40A1 | c.1100G= (p.Cys367=) c.980G= (p.Cys327=) | |
2 | g.189563886C>G | CA349987736 | SLC40A1 | c.1100G>C (p.Cys367Ser) c.980G>C (p.Cys327Ser) | |
2 | g.189563886C>T | CA349987735 | SLC40A1 | c.1100G>A (p.Cys367Tyr) c.980G>A (p.Cys327Tyr) | |
2 | g.189563887A= | CA1315654150 | SLC40A1 | c.1099T= (p.Cys367=) c.979T= (p.Cys327=) | |
2 | g.189563887A>C | CA349987737 | SLC40A1 | c.1099T>G (p.Cys367Gly) c.979T>G (p.Cys327Gly) | |
2 | g.189563887A>G | CA2024121 | SLC40A1 | c.1099T>C (p.Cys367Arg) c.979T>C (p.Cys327Arg) | dbSNP ExAC gnomAD v2 |
2 | g.189563887A>T | CA349987738 | SLC40A1 | c.1099T>A (p.Cys367Ser) c.979T>A (p.Cys327Ser) | |
2 | g.189563888T>A | CA349987739 | SLC40A1 | c.1098A>T (p.Lys366Asn) c.978A>T (p.Lys326Asn) | |
2 | g.189563888T>C | CA430502921 | SLC40A1 | c.1098A>G (p.Lys366=) c.978A>G (p.Lys326=) | gnomAD v4 |
2 | g.189563888T>G | CA349987740 | SLC40A1 | c.1098A>C (p.Lys366Asn) c.978A>C (p.Lys326Asn) | |
2 | g.189563891del | CA2753593827 | SLC40A1 | c.1098del (p.Lys366AsnfsTer9) c.978del (p.Lys326AsnfsTer9) | |
2 | g.189563889T>A | CA349987741 | SLC40A1 | c.1097A>T (p.Lys366Ile) c.977A>T (p.Lys326Ile) | |
2 | g.189563889T>C | CA349987742 | SLC40A1 | c.1097A>G (p.Lys366Arg) c.977A>G (p.Lys326Arg) | gnomAD v4 |
2 | g.189563889T>G | CA349987743 | SLC40A1 | c.1097A>C (p.Lys366Thr) c.977A>C (p.Lys326Thr) | |
2 | g.189563890T>A | CA349987744 | SLC40A1 | c.1096A>T (p.Lys366Ter) c.976A>T (p.Lys326Ter) | |
2 | g.189563890T>C | CA349987745 | SLC40A1 | c.1096A>G (p.Lys366Glu) c.976A>G (p.Lys326Glu) | |
2 | g.189563890T>G | CA349987746 | SLC40A1 | c.1096A>C (p.Lys366Gln) c.976A>C (p.Lys326Gln) | |
2 | g.189563891T>A | CA430502922 | SLC40A1 | c.1095A>T (p.Arg365=) c.975A>T (p.Arg325=) | |
2 | g.189563891T>C | CA430502923 | SLC40A1 | c.1095A>G (p.Arg365=) c.975A>G (p.Arg325=) | |
2 | g.189563891T>G | CA430502924 | SLC40A1 | c.1095A>C (p.Arg365=) c.975A>C (p.Arg325=) |