Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189563544_189563561del | CA2662328564 | SLC40A1 | c.1402+25_1402+42del (n.1402+25_1402+42del) c.1282+25_1282+42del (n.1282+25_1282+42del) | gnomAD v4 |
2 | g.189563548C>A | CA2662328568 | SLC40A1 | c.1402+36G>T (n.1402+36G>T) c.1282+36G>T (n.1282+36G>T) | gnomAD v4 |
2 | g.189563548C>T | CA2662328569 | SLC40A1 | c.1402+36G>A (n.1402+36G>A) c.1282+36G>A (n.1282+36G>A) | gnomAD v4 |
2 | g.189563549T>G | CA538918019 | SLC40A1 | c.1402+35A>C (n.1402+35A>C) c.1282+35A>C (n.1282+35A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189563549T= | CA1315653760 | SLC40A1 | c.1402+35A= (n.1402+35A=) c.1282+35A= (n.1282+35A=) | |
2 | g.189563551T>C | CA538918020 | SLC40A1 | c.1402+33A>G (n.1402+33A>G) c.1282+33A>G (n.1282+33A>G) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.189563551T= | CA1315653762 | SLC40A1 | c.1402+33A= (n.1402+33A=) c.1282+33A= (n.1282+33A=) | |
2 | g.189563552A= | CA1315653764 | SLC40A1 | c.1402+32T= (n.1402+32T=) c.1282+32T= (n.1282+32T=) | |
2 | g.189563552A>G | CA762315565 | SLC40A1 | c.1402+32T>C (n.1402+32T>C) c.1282+32T>C (n.1282+32T>C) | dbSNP |
2 | g.189563552A>T | CA2662328570 | SLC40A1 | c.1402+32T>A (n.1402+32T>A) c.1282+32T>A (n.1282+32T>A) | gnomAD v4 |
2 | g.189563553G>A | CA2662328571 | SLC40A1 | c.1402+31C>T (n.1402+31C>T) c.1282+31C>T (n.1282+31C>T) | gnomAD v4 |
2 | g.189563554T>G | CA2753593823 | SLC40A1 | c.1402+30A>C (n.1402+30A>C) c.1282+30A>C (n.1282+30A>C) | |
2 | g.189563555T>C | CA1315653766 | SLC40A1 | c.1402+29A>G (n.1402+29A>G) c.1282+29A>G (n.1282+29A>G) | dbSNP |
2 | g.189563555T= | CA1315653767 | SLC40A1 | c.1402+29A= (n.1402+29A=) c.1282+29A= (n.1282+29A=) | |
2 | g.189563556C= | CA1315653768 | SLC40A1 | c.1402+28G= (n.1402+28G=) c.1282+28G= (n.1282+28G=) | |
2 | g.189563556C>T | CA1315653769 | SLC40A1 | c.1402+28G>A (n.1402+28G>A) c.1282+28G>A (n.1282+28G>A) | dbSNP gnomAD v4 |
2 | g.189563557A= | CA1315653770 | SLC40A1 | c.1402+27T= (n.1402+27T=) c.1282+27T= (n.1282+27T=) | |
2 | g.189563557A>G | CA2024062 | SLC40A1 | c.1402+27T>C (n.1402+27T>C) c.1282+27T>C (n.1282+27T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563558T>C | CA2024063 | SLC40A1 | c.1402+26A>G (n.1402+26A>G) c.1282+26A>G (n.1282+26A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563558T= | CA1315653772 | SLC40A1 | c.1402+26A= (n.1402+26A=) c.1282+26A= (n.1282+26A=) | |
2 | g.189563559T>A | CA762315571 | SLC40A1 | c.1402+25A>T (n.1402+25A>T) c.1282+25A>T (n.1282+25A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563559T>G | CA2662328572 | SLC40A1 | c.1402+25A>C (n.1402+25A>C) c.1282+25A>C (n.1282+25A>C) | gnomAD v4 |
2 | g.189563559T= | CA1315653773 | SLC40A1 | c.1402+25A= (n.1402+25A=) c.1282+25A= (n.1282+25A=) | |
2 | g.189563560A>C | CA2701181005 | SLC40A1 | c.1402+24T>G (n.1402+24T>G) c.1282+24T>G (n.1282+24T>G) | dbSNP |
2 | g.189563562T>C | CA2024064 | SLC40A1 | c.1402+22A>G (n.1402+22A>G) c.1282+22A>G (n.1282+22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563562T= | CA1315653774 | SLC40A1 | c.1402+22A= (n.1402+22A=) c.1282+22A= (n.1282+22A=) | |
2 | g.189563564T>C | CA538918021 | SLC40A1 | c.1402+20A>G (n.1402+20A>G) c.1282+20A>G (n.1282+20A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189563564T= | CA1315653776 | SLC40A1 | c.1402+20A= (n.1402+20A=) c.1282+20A= (n.1282+20A=) | |
2 | g.189563565A= | CA1315653778 | SLC40A1 | c.1402+19T= (n.1402+19T=) c.1282+19T= (n.1282+19T=) | |
2 | g.189563565A>G | CA538918022 | SLC40A1 | c.1402+19T>C (n.1402+19T>C) c.1282+19T>C (n.1282+19T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189563565A>T | CA2577188081 | SLC40A1 | c.1402+19T>A (n.1402+19T>A) c.1282+19T>A (n.1282+19T>A) | |
2 | g.189563566T>C | CA2577188082 | SLC40A1 | c.1402+18A>G (n.1402+18A>G) c.1282+18A>G (n.1282+18A>G) | |
2 | g.189563566_189563567delinsTA | CA1315653779 | SLC40A1 | c.1402+17_1402+18delinsTA (n.1402+17_1402+18delinsTA) c.1282+17_1282+18delinsTA (n.1282+17_1282+18delinsTA) | |
2 | g.189563571del | CA916735177 | SLC40A1 | c.1402+17del (n.1402+17del) c.1282+17del (n.1282+17del) | dbSNP |
2 | g.189563568A= | CA1315653781 | SLC40A1 | c.1402+16T= (n.1402+16T=) c.1282+16T= (n.1282+16T=) | |
2 | g.189563568A>C | CA2024065 | SLC40A1 | c.1402+16T>G (n.1402+16T>G) c.1282+16T>G (n.1282+16T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563571A>G | CA2662328573 | SLC40A1 | c.1402+13T>C (n.1402+13T>C) c.1282+13T>C (n.1282+13T>C) | gnomAD v4 |
2 | g.189563572G= | CA1315653782 | SLC40A1 | c.1402+12C= (n.1402+12C=) c.1282+12C= (n.1282+12C=) | |
2 | g.189563572G>T | CA1315653783 | SLC40A1 | c.1402+12C>A (n.1402+12C>A) c.1282+12C>A (n.1282+12C>A) | dbSNP |
2 | g.189563573A= | CA1315653784 | SLC40A1 | c.1402+11T= (n.1402+11T=) c.1282+11T= (n.1282+11T=) | |
2 | g.189563573A>G | CA538918023 | SLC40A1 | c.1402+11T>C (n.1402+11T>C) c.1282+11T>C (n.1282+11T>C) | dbSNP gnomAD v2 |
2 | g.189563574G= | CA1315653786 | SLC40A1 | c.1402+10C= (n.1402+10C=) c.1282+10C= (n.1282+10C=) | |
2 | g.189563574G>T | CA2024066 | SLC40A1 | c.1402+10C>A (n.1402+10C>A) c.1282+10C>A (n.1282+10C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563576T>C | CA2662328574 | SLC40A1 | c.1402+8A>G (n.1402+8A>G) c.1282+8A>G (n.1282+8A>G) | gnomAD v4 |
2 | g.189563578T>G | CA2662328575 | SLC40A1 | c.1402+6A>C (n.1402+6A>C) c.1282+6A>C (n.1282+6A>C) | gnomAD v4 |
2 | g.189563580T>C | CA1040449899 | SLC40A1 | c.1402+4A>G (n.1402+4A>G) c.1282+4A>G (n.1282+4A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563580T>G | CA2753593824 | SLC40A1 | c.1402+4A>C (n.1402+4A>C) c.1282+4A>C (n.1282+4A>C) | |
2 | g.189563580T= | CA1315653788 | SLC40A1 | c.1402+4A= (n.1402+4A=) c.1282+4A= (n.1282+4A=) | |
2 | g.189563582A>C | CA349987105 | SLC40A1 | c.1402+2T>G (n.1402+2T>G) c.1282+2T>G (n.1282+2T>G) | |
2 | g.189563582A>G | CA349987106 | SLC40A1 | c.1402+2T>C (n.1402+2T>C) c.1282+2T>C (n.1282+2T>C) | |
2 | g.189563582A>T | CA349987107 | SLC40A1 | c.1402+2T>A (n.1402+2T>A) c.1282+2T>A (n.1282+2T>A) | |
2 | g.189563583C>A | CA349987108 | SLC40A1 | c.1402+1G>T (n.1402+1G>T) c.1282+1G>T (n.1282+1G>T) | |
2 | g.189563583C>G | CA349987110 | SLC40A1 | c.1402+1G>C (n.1402+1G>C) c.1282+1G>C (n.1282+1G>C) | |
2 | g.189563583C>T | CA349987109 | SLC40A1 | c.1402+1G>A (n.1402+1G>A) c.1282+1G>A (n.1282+1G>A) | |
2 | g.189563584C>A | CA349987111 | SLC40A1 | c.1402G>T (p.Gly468Cys) c.1282G>T (p.Gly428Cys) | |
2 | g.189563584C= | CA1315653790 | SLC40A1 | c.1402G= (p.Gly468=) c.1282G= (p.Gly428=) | |
2 | g.189563584C>G | CA349987112 | SLC40A1 | c.1402G>C (p.Gly468Arg) c.1282G>C (p.Gly428Arg) | |
2 | g.189563584C>T | CA2024067 | SLC40A1 | c.1402G>A (p.Gly468Ser) c.1282G>A (p.Gly428Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.189563585G>A | CA2024068 | SLC40A1 | c.1401C>T (p.Ile467=) c.1281C>T (p.Ile427=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.189563585G>C | CA349987113 | SLC40A1 | c.1401C>G (p.Ile467Met) c.1281C>G (p.Ile427Met) | |
2 | g.189563585G= | CA1315653792 | SLC40A1 | c.1401C= (p.Ile467=) c.1281C= (p.Ile427=) | |
2 | g.189563585G>T | CA430367179 | SLC40A1 | c.1401C>A (p.Ile467=) c.1281C>A (p.Ile427=) | COSMIC |
2 | g.189563586A>C | CA349987114 | SLC40A1 | c.1400T>G (p.Ile467Ser) c.1280T>G (p.Ile427Ser) | |
2 | g.189563586A>G | CA349987115 | SLC40A1 | c.1400T>C (p.Ile467Thr) c.1280T>C (p.Ile427Thr) | |
2 | g.189563586A>T | CA349987116 | SLC40A1 | c.1400T>A (p.Ile467Asn) c.1280T>A (p.Ile427Asn) | |
2 | g.189563587T>A | CA349987117 | SLC40A1 | c.1399A>T (p.Ile467Phe) c.1279A>T (p.Ile427Phe) | |
2 | g.189563587T>C | CA349987118 | SLC40A1 | c.1399A>G (p.Ile467Val) c.1279A>G (p.Ile427Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563587T>G | CA349987119 | SLC40A1 | c.1399A>C (p.Ile467Leu) c.1279A>C (p.Ile427Leu) | gnomAD v4 |
2 | g.189563587T= | CA1315653793 | SLC40A1 | c.1399A= (p.Ile467=) c.1279A= (p.Ile427=) | |
2 | g.189563588T>A | CA349987120 | SLC40A1 | c.1398A>T (p.Arg466Ser) c.1278A>T (p.Arg426Ser) | |
2 | g.189563588T>C | CA430367180 | SLC40A1 | c.1398A>G (p.Arg466=) c.1278A>G (p.Arg426=) | |
2 | g.189563588T>G | CA349987121 | SLC40A1 | c.1398A>C (p.Arg466Ser) c.1278A>C (p.Arg426Ser) | |
2 | g.189563589C>A | CA349987122 | SLC40A1 | c.1397G>T (p.Arg466Ile) c.1277G>T (p.Arg426Ile) | |
2 | g.189563589C>G | CA349987123 | SLC40A1 | c.1397G>C (p.Arg466Thr) c.1277G>C (p.Arg426Thr) | gnomAD v4 |
2 | g.189563589C>T | CA349987124 | SLC40A1 | c.1397G>A (p.Arg466Lys) c.1277G>A (p.Arg426Lys) | |
2 | g.189563590T>A | CA349987125 | SLC40A1 | c.1396A>T (p.Arg466Ter) c.1276A>T (p.Arg426Ter) | |
2 | g.189563590T>C | CA349987126 | SLC40A1 | c.1396A>G (p.Arg466Gly) c.1276A>G (p.Arg426Gly) | |
2 | g.189563590T>G | CA430367181 | SLC40A1 | c.1396A>C (p.Arg466=) c.1276A>C (p.Arg426=) | |
2 | g.189563591A= | CA1315653795 | SLC40A1 | c.1395T= (p.Ala465=) c.1275T= (p.Ala425=) | |
2 | g.189563591A>C | CA430367182 | SLC40A1 | c.1395T>G (p.Ala465=) c.1275T>G (p.Ala425=) | |
2 | g.189563591A>G | CA2024069 | SLC40A1 | c.1395T>C (p.Ala465=) c.1275T>C (p.Ala425=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563591A>T | CA430367183 | SLC40A1 | c.1395T>A (p.Ala465=) c.1275T>A (p.Ala425=) | |
2 | g.189563592G>A | CA349987127 | SLC40A1 | c.1394C>T (p.Ala465Val) c.1274C>T (p.Ala425Val) | |
2 | g.189563592G>C | CA349987128 | SLC40A1 | c.1394C>G (p.Ala465Gly) c.1274C>G (p.Ala425Gly) | |
2 | g.189563592G>T | CA349987129 | SLC40A1 | c.1394C>A (p.Ala465Asp) c.1274C>A (p.Ala425Asp) | |
2 | g.189563593C>A | CA349987130 | SLC40A1 | c.1393G>T (p.Ala465Ser) c.1273G>T (p.Ala425Ser) | |
2 | g.189563593C>G | CA349987131 | SLC40A1 | c.1393G>C (p.Ala465Pro) c.1273G>C (p.Ala425Pro) | |
2 | g.189563593C>T | CA349987132 | SLC40A1 | c.1393G>A (p.Ala465Thr) c.1273G>A (p.Ala425Thr) | gnomAD v4 |
2 | g.189563594A>C | CA430367184 | SLC40A1 | c.1392T>G (p.Ala464=) c.1272T>G (p.Ala424=) | |
2 | g.189563594A>G | CA430367186 | SLC40A1 | c.1392T>C (p.Ala464=) c.1272T>C (p.Ala424=) | dbSNP gnomAD v4 |
2 | g.189563594A>T | CA430367187 | SLC40A1 | c.1392T>A (p.Ala464=) c.1272T>A (p.Ala424=) | |
2 | g.189563595G>A | CA349987134 | SLC40A1 | c.1391C>T (p.Ala464Val) c.1271C>T (p.Ala424Val) | |
2 | g.189563595G>C | CA349987135 | SLC40A1 | c.1391C>G (p.Ala464Gly) c.1271C>G (p.Ala424Gly) | |
2 | g.189563595G>T | CA349987133 | SLC40A1 | c.1391C>A (p.Ala464Asp) c.1271C>A (p.Ala424Asp) | |
2 | g.189563596C>A | CA349987136 | SLC40A1 | c.1390G>T (p.Ala464Ser) c.1270G>T (p.Ala424Ser) | |
2 | g.189563596C>G | CA349987137 | SLC40A1 | c.1390G>C (p.Ala464Pro) c.1270G>C (p.Ala424Pro) | |
2 | g.189563596C>T | CA349987138 | SLC40A1 | c.1390G>A (p.Ala464Thr) c.1270G>A (p.Ala424Thr) | |
2 | g.189563597A>C | CA349987139 | SLC40A1 | c.1389T>G (p.Ile463Met) c.1269T>G (p.Ile423Met) | |
2 | g.189563597A>G | CA430367189 | SLC40A1 | c.1389T>C (p.Ile463=) c.1269T>C (p.Ile423=) | |
2 | g.189563597A>T | CA430367188 | SLC40A1 | c.1389T>A (p.Ile463=) c.1269T>A (p.Ile423=) | |
2 | g.189563598A= | CA1315653797 | SLC40A1 | c.1388T= (p.Ile463=) c.1268T= (p.Ile423=) | |
2 | g.189563598A>C | CA349987141 | SLC40A1 | c.1388T>G (p.Ile463Ser) c.1268T>G (p.Ile423Ser) | |
2 | g.189563598A>G | CA2024070 | SLC40A1 | c.1388T>C (p.Ile463Thr) c.1268T>C (p.Ile423Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563598A>T | CA349987140 | SLC40A1 | c.1388T>A (p.Ile463Asn) c.1268T>A (p.Ile423Asn) | |
2 | g.189563599T>A | CA349987142 | SLC40A1 | c.1387A>T (p.Ile463Phe) c.1267A>T (p.Ile423Phe) | |
2 | g.189563599T>C | CA349987143 | SLC40A1 | c.1387A>G (p.Ile463Val) c.1267A>G (p.Ile423Val) | |
2 | g.189563599T>G | CA349987144 | SLC40A1 | c.1387A>C (p.Ile463Leu) c.1267A>C (p.Ile423Leu) | |
2 | g.189563600G>A | CA430367190 | SLC40A1 | c.1386C>T (p.Val462=) c.1266C>T (p.Val422=) | gnomAD v4 |
2 | g.189563600G>C | CA430367191 | SLC40A1 | c.1386C>G (p.Val462=) c.1266C>G (p.Val422=) | |
2 | g.189563600G>T | CA430367192 | SLC40A1 | c.1386C>A (p.Val462=) c.1266C>A (p.Val422=) | |
2 | g.189563601A>C | CA349987145 | SLC40A1 | c.1385T>G (p.Val462Gly) c.1265T>G (p.Val422Gly) | |
2 | g.189563601A>G | CA349987146 | SLC40A1 | c.1385T>C (p.Val462Ala) c.1265T>C (p.Val422Ala) | |
2 | g.189563601A>T | CA349987147 | SLC40A1 | c.1385T>A (p.Val462Asp) c.1265T>A (p.Val422Asp) | |
2 | g.189563602C>A | CA349987148 | SLC40A1 | c.1384G>T (p.Val462Phe) c.1264G>T (p.Val422Phe) | |
2 | g.189563602C= | CA1315653800 | SLC40A1 | c.1384G= (p.Val462=) c.1264G= (p.Val422=) | |
2 | g.189563602C>G | CA349987149 | SLC40A1 | c.1384G>C (p.Val462Leu) c.1264G>C (p.Val422Leu) | |
2 | g.189563602C>T | CA2024071 | SLC40A1 | c.1384G>A (p.Val462Ile) c.1264G>A (p.Val422Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.189563603G>A | CA2024072 | SLC40A1 | c.1383C>T (p.Gly461=) c.1263C>T (p.Gly421=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563603G>C | CA430367194 | SLC40A1 | c.1383C>G (p.Gly461=) c.1263C>G (p.Gly421=) | |
2 | g.189563603G= | CA1315653802 | SLC40A1 | c.1383C= (p.Gly461=) c.1263C= (p.Gly421=) | |
2 | g.189563603G>T | CA430367195 | SLC40A1 | c.1383C>A (p.Gly461=) c.1263C>A (p.Gly421=) | gnomAD v4 |
2 | g.189563604C>A | CA349987152 | SLC40A1 | c.1382G>T (p.Gly461Val) c.1262G>T (p.Gly421Val) | |
2 | g.189563604C>G | CA349987150 | SLC40A1 | c.1382G>C (p.Gly461Ala) c.1262G>C (p.Gly421Ala) | |
2 | g.189563604C>T | CA349987151 | SLC40A1 | c.1382G>A (p.Gly461Asp) c.1262G>A (p.Gly421Asp) | |
2 | g.189563605C>A | CA349987153 | SLC40A1 | c.1381G>T (p.Gly461Cys) c.1261G>T (p.Gly421Cys) | |
2 | g.189563605C>G | CA349987154 | SLC40A1 | c.1381G>C (p.Gly461Arg) c.1261G>C (p.Gly421Arg) | |
2 | g.189563605C>T | CA349987155 | SLC40A1 | c.1381G>A (p.Gly461Ser) c.1261G>A (p.Gly421Ser) | |
2 | g.189563606T>A | CA430367196 | SLC40A1 | c.1380A>T (p.Ala460=) c.1260A>T (p.Ala420=) | |
2 | g.189563606T>C | CA62902879 | SLC40A1 | c.1380A>G (p.Ala460=) c.1260A>G (p.Ala420=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563606T>G | CA430367197 | SLC40A1 | c.1380A>C (p.Ala460=) c.1260A>C (p.Ala420=) | |
2 | g.189563606T= | CA1315653804 | SLC40A1 | c.1380A= (p.Ala460=) c.1260A= (p.Ala420=) | |
2 | g.189563607G>A | CA349987156 | SLC40A1 | c.1379C>T (p.Ala460Val) c.1259C>T (p.Ala420Val) | gnomAD v4 |
2 | g.189563607G>C | CA2024073 | SLC40A1 | c.1379C>G (p.Ala460Gly) c.1259C>G (p.Ala420Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563607G= | CA1315653806 | SLC40A1 | c.1379C= (p.Ala460=) c.1259C= (p.Ala420=) | |
2 | g.189563607G>T | CA349987157 | SLC40A1 | c.1379C>A (p.Ala460Glu) c.1259C>A (p.Ala420Glu) | |
2 | g.189563608C>A | CA349987158 | SLC40A1 | c.1378G>T (p.Ala460Ser) c.1258G>T (p.Ala420Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189563608C= | CA1315653808 | SLC40A1 | c.1378G= (p.Ala460=) c.1258G= (p.Ala420=) | |
2 | g.189563608C>G | CA349987159 | SLC40A1 | c.1378G>C (p.Ala460Pro) c.1258G>C (p.Ala420Pro) | |
2 | g.189563608C>T | CA349987160 | SLC40A1 | c.1378G>A (p.Ala460Thr) c.1258G>A (p.Ala420Thr) | |
2 | g.189563609A>C | CA349987161 | SLC40A1 | c.1377T>G (p.Phe459Leu) c.1257T>G (p.Phe419Leu) | gnomAD v4 |
2 | g.189563609A>G | CA430367198 | SLC40A1 | c.1377T>C (p.Phe459=) c.1257T>C (p.Phe419=) | gnomAD v4 |
2 | g.189563609A>T | CA349987162 | SLC40A1 | c.1377T>A (p.Phe459Leu) c.1257T>A (p.Phe419Leu) | |
2 | g.189563610A>C | CA349987165 | SLC40A1 | c.1376T>G (p.Phe459Cys) c.1256T>G (p.Phe419Cys) | |
2 | g.189563610A>G | CA349987163 | SLC40A1 | c.1376T>C (p.Phe459Ser) c.1256T>C (p.Phe419Ser) | |
2 | g.189563610A>T | CA349987164 | SLC40A1 | c.1376T>A (p.Phe459Tyr) c.1256T>A (p.Phe419Tyr) | |
2 | g.189563611A>C | CA349987166 | SLC40A1 | c.1375T>G (p.Phe459Val) c.1255T>G (p.Phe419Val) | |
2 | g.189563611A>G | CA349987167 | SLC40A1 | c.1375T>C (p.Phe459Leu) c.1255T>C (p.Phe419Leu) | |
2 | g.189563611A>T | CA349987168 | SLC40A1 | c.1375T>A (p.Phe459Ile) c.1255T>A (p.Phe419Ile) | |
2 | g.189563612C>A | CA430367199 | SLC40A1 | c.1374G>T (p.Leu458=) c.1254G>T (p.Leu418=) | |
2 | g.189563612C= | CA1315653810 | SLC40A1 | c.1374G= (p.Leu458=) c.1254G= (p.Leu418=) | |
2 | g.189563612C>G | CA430367200 | SLC40A1 | c.1374G>C (p.Leu458=) c.1254G>C (p.Leu418=) | gnomAD v4 |
2 | g.189563612C>T | CA62902880 | SLC40A1 | c.1374G>A (p.Leu458=) c.1254G>A (p.Leu418=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.189563613A>C | CA349987169 | SLC40A1 | c.1373T>G (p.Leu458Arg) c.1253T>G (p.Leu418Arg) | |
2 | g.189563613A>G | CA349987170 | SLC40A1 | c.1373T>C (p.Leu458Pro) c.1253T>C (p.Leu418Pro) | |
2 | g.189563613A>T | CA349987171 | SLC40A1 | c.1373T>A (p.Leu458Gln) c.1253T>A (p.Leu418Gln) | gnomAD v4 |
2 | g.189563614G>A | CA430367201 | SLC40A1 | c.1372C>T (p.Leu458=) c.1252C>T (p.Leu418=) | gnomAD v4 |
2 | g.189563614G>C | CA62902881 | SLC40A1 | c.1372C>G (p.Leu458Val) c.1252C>G (p.Leu418Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563614G= | CA1315653812 | SLC40A1 | c.1372C= (p.Leu458=) c.1252C= (p.Leu418=) | |
2 | g.189563614G>T | CA349987172 | SLC40A1 | c.1372C>A (p.Leu458Met) c.1252C>A (p.Leu418Met) | |
2 | g.189563615C>A | CA430367202 | SLC40A1 | c.1371G>T (p.Leu457=) c.1251G>T (p.Leu417=) | |
2 | g.189563615C= | CA1315653814 | SLC40A1 | c.1371G= (p.Leu457=) c.1251G= (p.Leu417=) | |
2 | g.189563615C>G | CA430367203 | SLC40A1 | c.1371G>C (p.Leu457=) c.1251G>C (p.Leu417=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563615C>T | CA2024074 | SLC40A1 | c.1371G>A (p.Leu457=) c.1251G>A (p.Leu417=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563616A>C | CA349987173 | SLC40A1 | c.1370T>G (p.Leu457Arg) c.1250T>G (p.Leu417Arg) | |
2 | g.189563616A>G | CA349987174 | SLC40A1 | c.1370T>C (p.Leu457Pro) c.1250T>C (p.Leu417Pro) | |
2 | g.189563616A>T | CA349987175 | SLC40A1 | c.1370T>A (p.Leu457Gln) c.1250T>A (p.Leu417Gln) | |
2 | g.189563617G>A | CA430367204 | SLC40A1 | c.1369C>T (p.Leu457=) c.1249C>T (p.Leu417=) | |
2 | g.189563617G>C | CA349987177 | SLC40A1 | c.1369C>G (p.Leu457Val) c.1249C>G (p.Leu417Val) | |
2 | g.189563617G= | CA1315653818 | SLC40A1 | c.1369C= (p.Leu457=) c.1249C= (p.Leu417=) | |
2 | g.189563617G>T | CA349987176 | SLC40A1 | c.1369C>A (p.Leu457Met) c.1249C>A (p.Leu417Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563618A>C | CA349987178 | SLC40A1 | c.1368T>G (p.Ser456Arg) c.1248T>G (p.Ser416Arg) | |
2 | g.189563618A>G | CA430367205 | SLC40A1 | c.1368T>C (p.Ser456=) c.1248T>C (p.Ser416=) | |
2 | g.189563618A>T | CA349987179 | SLC40A1 | c.1368T>A (p.Ser456Arg) c.1248T>A (p.Ser416Arg) | |
2 | g.189563619C>A | CA349987180 | SLC40A1 | c.1367G>T (p.Ser456Ile) c.1247G>T (p.Ser416Ile) | |
2 | g.189563619C>G | CA349987181 | SLC40A1 | c.1367G>C (p.Ser456Thr) c.1247G>C (p.Ser416Thr) | |
2 | g.189563619C>T | CA349987182 | SLC40A1 | c.1367G>A (p.Ser456Asn) c.1247G>A (p.Ser416Asn) | |
2 | g.189563620T>A | CA349987183 | SLC40A1 | c.1366A>T (p.Ser456Cys) c.1246A>T (p.Ser416Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563620T>C | CA349987184 | SLC40A1 | c.1366A>G (p.Ser456Gly) c.1246A>G (p.Ser416Gly) | gnomAD v3 gnomAD v4 |
2 | g.189563620T>G | CA349987185 | SLC40A1 | c.1366A>C (p.Ser456Arg) c.1246A>C (p.Ser416Arg) | |
2 | g.189563620T= | CA1315653820 | SLC40A1 | c.1366A= (p.Ser456=) c.1246A= (p.Ser416=) | |
2 | g.189563621G>A | CA430367206 | SLC40A1 | c.1365C>T (p.Val455=) c.1245C>T (p.Val415=) | |
2 | g.189563621G>C | CA430367207 | SLC40A1 | c.1365C>G (p.Val455=) c.1245C>G (p.Val415=) | |
2 | g.189563621G>T | CA430367208 | SLC40A1 | c.1365C>A (p.Val455=) c.1245C>A (p.Val415=) | |
2 | g.189563622A>C | CA349987186 | SLC40A1 | c.1364T>G (p.Val455Gly) c.1244T>G (p.Val415Gly) | |
2 | g.189563622A>G | CA349987188 | SLC40A1 | c.1364T>C (p.Val455Ala) c.1244T>C (p.Val415Ala) | |
2 | g.189563622A>T | CA349987187 | SLC40A1 | c.1364T>A (p.Val455Asp) c.1244T>A (p.Val415Asp) | |
2 | g.189563623C>A | CA349987189 | SLC40A1 | c.1363G>T (p.Val455Phe) c.1243G>T (p.Val415Phe) | |
2 | g.189563623C= | CA1315653822 | SLC40A1 | c.1363G= (p.Val455=) c.1243G= (p.Val415=) | |
2 | g.189563623C>G | CA349987190 | SLC40A1 | c.1363G>C (p.Val455Leu) c.1243G>C (p.Val415Leu) | |
2 | g.189563623C>T | CA349987191 | SLC40A1 | c.1363G>A (p.Val455Ile) c.1243G>A (p.Val415Ile) | dbSNP |
2 | g.189563624A= | CA1315653824 | SLC40A1 | c.1362T= (p.Ser454=) c.1242T= (p.Ser414=) | |
2 | g.189563624A>C | CA2024075 | SLC40A1 | c.1362T>G (p.Ser454=) c.1242T>G (p.Ser414=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563624A>G | CA430367209 | SLC40A1 | c.1362T>C (p.Ser454=) c.1242T>C (p.Ser414=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563624A>T | CA430367210 | SLC40A1 | c.1362T>A (p.Ser454=) c.1242T>A (p.Ser414=) | gnomAD v4 |
2 | g.189563627_189563628del | CA2662328576 | SLC40A1 | c.1361_1362del (p.Ser454CysfsTer12) c.1241_1242del (p.Ser414CysfsTer12) | gnomAD v4 |
2 | g.189563625G>A | CA349987192 | SLC40A1 | c.1361C>T (p.Ser454Phe) c.1241C>T (p.Ser414Phe) | |
2 | g.189563625G>C | CA349987194 | SLC40A1 | c.1361C>G (p.Ser454Cys) c.1241C>G (p.Ser414Cys) | |
2 | g.189563625G>T | CA349987193 | SLC40A1 | c.1361C>A (p.Ser454Tyr) c.1241C>A (p.Ser414Tyr) | |
2 | g.189563626A>C | CA349987195 | SLC40A1 | c.1360T>G (p.Ser454Ala) c.1240T>G (p.Ser414Ala) | |
2 | g.189563626A>G | CA349987196 | SLC40A1 | c.1360T>C (p.Ser454Pro) c.1240T>C (p.Ser414Pro) | |
2 | g.189563626A>T | CA349987197 | SLC40A1 | c.1360T>A (p.Ser454Thr) c.1240T>A (p.Ser414Thr) | |
2 | g.189563627G>A | CA430367211 | SLC40A1 | c.1359C>T (p.Ile453=) c.1239C>T (p.Ile413=) | |
2 | g.189563627G>C | CA349987198 | SLC40A1 | c.1359C>G (p.Ile453Met) c.1239C>G (p.Ile413Met) | |
2 | g.189563627G>T | CA430367212 | SLC40A1 | c.1359C>A (p.Ile453=) c.1239C>A (p.Ile413=) | |
2 | g.189563628A>C | CA349987199 | SLC40A1 | c.1358T>G (p.Ile453Ser) c.1238T>G (p.Ile413Ser) | |
2 | g.189563628A>G | CA349987200 | SLC40A1 | c.1358T>C (p.Ile453Thr) c.1238T>C (p.Ile413Thr) | |
2 | g.189563628A>T | CA349987201 | SLC40A1 | c.1358T>A (p.Ile453Asn) c.1238T>A (p.Ile413Asn) | |
2 | g.189563629T>A | CA2024076 | SLC40A1 | c.1357A>T (p.Ile453Phe) c.1237A>T (p.Ile413Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563629T>C | CA349987202 | SLC40A1 | c.1357A>G (p.Ile453Val) c.1237A>G (p.Ile413Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563629T>G | CA349987203 | SLC40A1 | c.1357A>C (p.Ile453Leu) c.1237A>C (p.Ile413Leu) | |
2 | g.189563629T= | CA1315653831 | SLC40A1 | c.1357A= (p.Ile453=) c.1237A= (p.Ile413=) | |
2 | g.189563630T>A | CA430367213 | SLC40A1 | c.1356A>T (p.Ile452=) c.1236A>T (p.Ile412=) | |
2 | g.189563630T>C | CA349987204 | SLC40A1 | c.1356A>G (p.Ile452Met) c.1236A>G (p.Ile412Met) | gnomAD v4 |
2 | g.189563630T>G | CA430367214 | SLC40A1 | c.1356A>C (p.Ile452=) c.1236A>C (p.Ile412=) | |
2 | g.189563631A>C | CA349987205 | SLC40A1 | c.1355T>G (p.Ile452Arg) c.1235T>G (p.Ile412Arg) | |
2 | g.189563631A>G | CA349987207 | SLC40A1 | c.1355T>C (p.Ile452Thr) c.1235T>C (p.Ile412Thr) | |
2 | g.189563631A>T | CA349987206 | SLC40A1 | c.1355T>A (p.Ile452Lys) c.1235T>A (p.Ile412Lys) | |
2 | g.189563632T>A | CA349987208 | SLC40A1 | c.1354A>T (p.Ile452Leu) c.1234A>T (p.Ile412Leu) | |
2 | g.189563632T>C | CA349987210 | SLC40A1 | c.1354A>G (p.Ile452Val) c.1234A>G (p.Ile412Val) | gnomAD v4 |
2 | g.189563632T>G | CA349987209 | SLC40A1 | c.1354A>C (p.Ile452Leu) c.1234A>C (p.Ile412Leu) | |
2 | g.189563633G>A | CA430367215 | SLC40A1 | c.1353C>T (p.Pro451=) c.1233C>T (p.Pro411=) | dbSNP gnomAD v4 |
2 | g.189563633G>C | CA430367216 | SLC40A1 | c.1353C>G (p.Pro451=) c.1233C>G (p.Pro411=) | |
2 | g.189563633G= | CA1315653833 | SLC40A1 | c.1353C= (p.Pro451=) c.1233C= (p.Pro411=) | |
2 | g.189563633G>T | CA430367217 | SLC40A1 | c.1353C>A (p.Pro451=) c.1233C>A (p.Pro411=) | |
2 | g.189563634G>A | CA349987211 | SLC40A1 | c.1352C>T (p.Pro451Leu) c.1232C>T (p.Pro411Leu) | |
2 | g.189563634G>C | CA2024077 | SLC40A1 | c.1352C>G (p.Pro451Arg) c.1232C>G (p.Pro411Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563634G= | CA1315653835 | SLC40A1 | c.1352C= (p.Pro451=) c.1232C= (p.Pro411=) | |
2 | g.189563634G>T | CA349987212 | SLC40A1 | c.1352C>A (p.Pro451His) c.1232C>A (p.Pro411His) | |
2 | g.189563635G>A | CA349987213 | SLC40A1 | c.1351C>T (p.Pro451Ser) c.1231C>T (p.Pro411Ser) | gnomAD v4 |
2 | g.189563635G>C | CA349987214 | SLC40A1 | c.1351C>G (p.Pro451Ala) c.1231C>G (p.Pro411Ala) | |
2 | g.189563635G>T | CA349987215 | SLC40A1 | c.1351C>A (p.Pro451Thr) c.1231C>A (p.Pro411Thr) | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563636C>A | CA430367218 | SLC40A1 | c.1350G>T (p.Val450=) c.1230G>T (p.Val410=) | gnomAD v4 |
2 | g.189563636C= | CA1315653839 | SLC40A1 | c.1350G= (p.Val450=) c.1230G= (p.Val410=) | |
2 | g.189563636C>G | CA430367219 | SLC40A1 | c.1350G>C (p.Val450=) c.1230G>C (p.Val410=) | |
2 | g.189563636C>T | CA2024078 | SLC40A1 | c.1350G>A (p.Val450=) c.1230G>A (p.Val410=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563637A>C | CA349987216 | SLC40A1 | c.1349T>G (p.Val450Gly) c.1229T>G (p.Val410Gly) | gnomAD v4 |
2 | g.189563637A>G | CA349987217 | SLC40A1 | c.1349T>C (p.Val450Ala) c.1229T>C (p.Val410Ala) | gnomAD v4 |
2 | g.189563637A>T | CA349987218 | SLC40A1 | c.1349T>A (p.Val450Glu) c.1229T>A (p.Val410Glu) | COSMIC |
2 | g.189563638C>A | CA349987221 | SLC40A1 | c.1348G>T (p.Val450Leu) c.1228G>T (p.Val410Leu) | |
2 | g.189563638C>G | CA349987220 | SLC40A1 | c.1348G>C (p.Val450Leu) c.1228G>C (p.Val410Leu) | gnomAD v4 |
2 | g.189563638C>T | CA349987219 | SLC40A1 | c.1348G>A (p.Val450Met) c.1228G>A (p.Val410Met) | |
2 | g.189563639A>C | CA430367220 | SLC40A1 | c.1347T>G (p.Ser449=) c.1227T>G (p.Ser409=) | |
2 | g.189563639A>G | CA430367222 | SLC40A1 | c.1347T>C (p.Ser449=) c.1227T>C (p.Ser409=) | |
2 | g.189563639A>T | CA430367221 | SLC40A1 | c.1347T>A (p.Ser449=) c.1227T>A (p.Ser409=) | |
2 | g.189563640G>A | CA349987222 | SLC40A1 | c.1346C>T (p.Ser449Phe) c.1226C>T (p.Ser409Phe) | gnomAD v4 |
2 | g.189563640G>C | CA349987223 | SLC40A1 | c.1346C>G (p.Ser449Cys) c.1226C>G (p.Ser409Cys) | |
2 | g.189563640G= | CA1315653841 | SLC40A1 | c.1346C= (p.Ser449=) c.1226C= (p.Ser409=) | |
2 | g.189563640G>T | CA349987224 | SLC40A1 | c.1346C>A (p.Ser449Tyr) c.1226C>A (p.Ser409Tyr) | dbSNP gnomAD v2 |
2 | g.189563641A= | CA1315653844 | SLC40A1 | c.1345T= (p.Ser449=) c.1225T= (p.Ser409=) | |
2 | g.189563641A>C | CA349987225 | SLC40A1 | c.1345T>G (p.Ser449Ala) c.1225T>G (p.Ser409Ala) | |
2 | g.189563641A>G | CA349987226 | SLC40A1 | c.1345T>C (p.Ser449Pro) c.1225T>C (p.Ser409Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189563641A>T | CA349987227 | SLC40A1 | c.1345T>A (p.Ser449Thr) c.1225T>A (p.Ser409Thr) | |
2 | g.189563642T>A | CA349987228 | SLC40A1 | c.1344A>T (p.Glu448Asp) c.1224A>T (p.Glu408Asp) | |
2 | g.189563642T>C | CA430367223 | SLC40A1 | c.1344A>G (p.Glu448=) c.1224A>G (p.Glu408=) | |
2 | g.189563642T>G | CA349987229 | SLC40A1 | c.1344A>C (p.Glu448Asp) c.1224A>C (p.Glu408Asp) | |
2 | g.189563643T>A | CA349987230 | SLC40A1 | c.1343A>T (p.Glu448Val) c.1223A>T (p.Glu408Val) | |
2 | g.189563643T>C | CA349987231 | SLC40A1 | c.1343A>G (p.Glu448Gly) c.1223A>G (p.Glu408Gly) | |
2 | g.189563643T>G | CA349987232 | SLC40A1 | c.1343A>C (p.Glu448Ala) c.1223A>C (p.Glu408Ala) | |
2 | g.189563644C>A | CA349987234 | SLC40A1 | c.1342G>T (p.Glu448Ter) c.1222G>T (p.Glu408Ter) | |
2 | g.189563644C>G | CA349987235 | SLC40A1 | c.1342G>C (p.Glu448Gln) c.1222G>C (p.Glu408Gln) | |
2 | g.189563644C>T | CA349987233 | SLC40A1 | c.1342G>A (p.Glu448Lys) c.1222G>A (p.Glu408Lys) | gnomAD v4 |
2 | g.189563645A= | CA1315653847 | SLC40A1 | c.1341T= (p.Pro447=) c.1221T= (p.Pro407=) | |
2 | g.189563645A>C | CA430367224 | SLC40A1 | c.1341T>G (p.Pro447=) c.1221T>G (p.Pro407=) | gnomAD v4 |
2 | g.189563645A>G | CA430367225 | SLC40A1 | c.1341T>C (p.Pro447=) c.1221T>C (p.Pro407=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189563645A>T | CA430367226 | SLC40A1 | c.1341T>A (p.Pro447=) c.1221T>A (p.Pro407=) | |
2 | g.189563646G>A | CA349987236 | SLC40A1 | c.1340C>T (p.Pro447Leu) c.1220C>T (p.Pro407Leu) | gnomAD v4 |
2 | g.189563646G>C | CA349987237 | SLC40A1 | c.1340C>G (p.Pro447Arg) c.1220C>G (p.Pro407Arg) | gnomAD v4 |
2 | g.189563646G>T | CA349987238 | SLC40A1 | c.1340C>A (p.Pro447His) c.1220C>A (p.Pro407His) | |
2 | g.189563647G>A | CA349987239 | SLC40A1 | c.1339C>T (p.Pro447Ser) c.1219C>T (p.Pro407Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563647G>C | CA349987240 | SLC40A1 | c.1339C>G (p.Pro447Ala) c.1219C>G (p.Pro407Ala) | |
2 | g.189563647G= | CA1315653851 | SLC40A1 | c.1339C= (p.Pro447=) c.1219C= (p.Pro407=) | |
2 | g.189563647G>T | CA349987241 | SLC40A1 | c.1339C>A (p.Pro447Thr) c.1219C>A (p.Pro407Thr) | |
2 | g.189563648A>C | CA349987243 | SLC40A1 | c.1338T>G (p.Ser446Arg) c.1218T>G (p.Ser406Arg) | |
2 | g.189563648A>G | CA430367227 | SLC40A1 | c.1338T>C (p.Ser446=) c.1218T>C (p.Ser406=) | |
2 | g.189563648A>T | CA349987242 | SLC40A1 | c.1338T>A (p.Ser446Arg) c.1218T>A (p.Ser406Arg) |