Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189563544_189563561delCA2662328564SLC40A1c.1402+25_1402+42del (n.1402+25_1402+42del)
c.1282+25_1282+42del (n.1282+25_1282+42del)
 gnomAD v4
2g.189563559T>ACA762315571SLC40A1c.1402+25A>T (n.1402+25A>T)
c.1282+25A>T (n.1282+25A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189563559T>GCA2662328572SLC40A1c.1402+25A>C (n.1402+25A>C)
c.1282+25A>C (n.1282+25A>C)
 gnomAD v4
2g.189563559T=CA1315653773SLC40A1c.1402+25A= (n.1402+25A=)
c.1282+25A= (n.1282+25A=)
2g.189563560A>CCA2701181005SLC40A1c.1402+24T>G (n.1402+24T>G)
c.1282+24T>G (n.1282+24T>G)
 dbSNP
2g.189563562T>CCA2024064SLC40A1c.1402+22A>G (n.1402+22A>G)
c.1282+22A>G (n.1282+22A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563562T=CA1315653774SLC40A1c.1402+22A= (n.1402+22A=)
c.1282+22A= (n.1282+22A=)
2g.189563564T>CCA538918021SLC40A1c.1402+20A>G (n.1402+20A>G)
c.1282+20A>G (n.1282+20A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189563564T=CA1315653776SLC40A1c.1402+20A= (n.1402+20A=)
c.1282+20A= (n.1282+20A=)
2g.189563565A=CA1315653778SLC40A1c.1402+19T= (n.1402+19T=)
c.1282+19T= (n.1282+19T=)
2g.189563565A>GCA538918022SLC40A1c.1402+19T>C (n.1402+19T>C)
c.1282+19T>C (n.1282+19T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189563565A>TCA2577188081SLC40A1c.1402+19T>A (n.1402+19T>A)
c.1282+19T>A (n.1282+19T>A)
2g.189563566T>CCA2577188082SLC40A1c.1402+18A>G (n.1402+18A>G)
c.1282+18A>G (n.1282+18A>G)
2g.189563566_189563567delinsTACA1315653779SLC40A1c.1402+17_1402+18delinsTA (n.1402+17_1402+18delinsTA)
c.1282+17_1282+18delinsTA (n.1282+17_1282+18delinsTA)
2g.189563571delCA916735177SLC40A1c.1402+17del (n.1402+17del)
c.1282+17del (n.1282+17del)
 dbSNP
2g.189563568A=CA1315653781SLC40A1c.1402+16T= (n.1402+16T=)
c.1282+16T= (n.1282+16T=)
2g.189563568A>CCA2024065SLC40A1c.1402+16T>G (n.1402+16T>G)
c.1282+16T>G (n.1282+16T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563571A>GCA2662328573SLC40A1c.1402+13T>C (n.1402+13T>C)
c.1282+13T>C (n.1282+13T>C)
 gnomAD v4
2g.189563572G=CA1315653782SLC40A1c.1402+12C= (n.1402+12C=)
c.1282+12C= (n.1282+12C=)
2g.189563572G>TCA1315653783SLC40A1c.1402+12C>A (n.1402+12C>A)
c.1282+12C>A (n.1282+12C>A)
 dbSNP
2g.189563573A=CA1315653784SLC40A1c.1402+11T= (n.1402+11T=)
c.1282+11T= (n.1282+11T=)
2g.189563573A>GCA538918023SLC40A1c.1402+11T>C (n.1402+11T>C)
c.1282+11T>C (n.1282+11T>C)
 dbSNP gnomAD v2
2g.189563574G=CA1315653786SLC40A1c.1402+10C= (n.1402+10C=)
c.1282+10C= (n.1282+10C=)
2g.189563574G>TCA2024066SLC40A1c.1402+10C>A (n.1402+10C>A)
c.1282+10C>A (n.1282+10C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563576T>CCA2662328574SLC40A1c.1402+8A>G (n.1402+8A>G)
c.1282+8A>G (n.1282+8A>G)
 gnomAD v4
2g.189563578T>GCA2662328575SLC40A1c.1402+6A>C (n.1402+6A>C)
c.1282+6A>C (n.1282+6A>C)
 gnomAD v4
2g.189563580T>CCA1040449899SLC40A1c.1402+4A>G (n.1402+4A>G)
c.1282+4A>G (n.1282+4A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189563580T>GCA2753593824SLC40A1c.1402+4A>C (n.1402+4A>C)
c.1282+4A>C (n.1282+4A>C)
2g.189563580T=CA1315653788SLC40A1c.1402+4A= (n.1402+4A=)
c.1282+4A= (n.1282+4A=)
2g.189563582A>CCA349987105SLC40A1c.1402+2T>G (n.1402+2T>G)
c.1282+2T>G (n.1282+2T>G)
2g.189563582A>GCA349987106SLC40A1c.1402+2T>C (n.1402+2T>C)
c.1282+2T>C (n.1282+2T>C)
2g.189563582A>TCA349987107SLC40A1c.1402+2T>A (n.1402+2T>A)
c.1282+2T>A (n.1282+2T>A)
2g.189563583C>ACA349987108SLC40A1c.1402+1G>T (n.1402+1G>T)
c.1282+1G>T (n.1282+1G>T)
2g.189563583C>GCA349987110SLC40A1c.1402+1G>C (n.1402+1G>C)
c.1282+1G>C (n.1282+1G>C)
2g.189563583C>TCA349987109SLC40A1c.1402+1G>A (n.1402+1G>A)
c.1282+1G>A (n.1282+1G>A)
2g.189563584C>ACA349987111SLC40A1c.1402G>T (p.Gly468Cys)
c.1282G>T (p.Gly428Cys)
2g.189563584C=CA1315653790SLC40A1c.1402G= (p.Gly468=)
c.1282G= (p.Gly428=)
2g.189563584C>GCA349987112SLC40A1c.1402G>C (p.Gly468Arg)
c.1282G>C (p.Gly428Arg)
2g.189563584C>TCA2024067SLC40A1c.1402G>A (p.Gly468Ser)
c.1282G>A (p.Gly428Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.189563585G>ACA2024068SLC40A1c.1401C>T (p.Ile467=)
c.1281C>T (p.Ile427=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189563585G>CCA349987113SLC40A1c.1401C>G (p.Ile467Met)
c.1281C>G (p.Ile427Met)
2g.189563585G=CA1315653792SLC40A1c.1401C= (p.Ile467=)
c.1281C= (p.Ile427=)
2g.189563585G>TCA430367179SLC40A1c.1401C>A (p.Ile467=)
c.1281C>A (p.Ile427=)
 COSMIC
2g.189563586A>CCA349987114SLC40A1c.1400T>G (p.Ile467Ser)
c.1280T>G (p.Ile427Ser)
2g.189563586A>GCA349987115SLC40A1c.1400T>C (p.Ile467Thr)
c.1280T>C (p.Ile427Thr)
2g.189563586A>TCA349987116SLC40A1c.1400T>A (p.Ile467Asn)
c.1280T>A (p.Ile427Asn)
2g.189563587T>ACA349987117SLC40A1c.1399A>T (p.Ile467Phe)
c.1279A>T (p.Ile427Phe)
2g.189563587T>CCA349987118SLC40A1c.1399A>G (p.Ile467Val)
c.1279A>G (p.Ile427Val)
 dbSNP gnomAD v3 gnomAD v4
2g.189563587T>GCA349987119SLC40A1c.1399A>C (p.Ile467Leu)
c.1279A>C (p.Ile427Leu)
 gnomAD v4
2g.189563587T=CA1315653793SLC40A1c.1399A= (p.Ile467=)
c.1279A= (p.Ile427=)
2g.189563588T>ACA349987120SLC40A1c.1398A>T (p.Arg466Ser)
c.1278A>T (p.Arg426Ser)
2g.189563588T>CCA430367180SLC40A1c.1398A>G (p.Arg466=)
c.1278A>G (p.Arg426=)
2g.189563588T>GCA349987121SLC40A1c.1398A>C (p.Arg466Ser)
c.1278A>C (p.Arg426Ser)
2g.189563589C>ACA349987122SLC40A1c.1397G>T (p.Arg466Ile)
c.1277G>T (p.Arg426Ile)
2g.189563589C>GCA349987123SLC40A1c.1397G>C (p.Arg466Thr)
c.1277G>C (p.Arg426Thr)
 gnomAD v4
2g.189563589C>TCA349987124SLC40A1c.1397G>A (p.Arg466Lys)
c.1277G>A (p.Arg426Lys)
2g.189563590T>ACA349987125SLC40A1c.1396A>T (p.Arg466Ter)
c.1276A>T (p.Arg426Ter)
2g.189563590T>CCA349987126SLC40A1c.1396A>G (p.Arg466Gly)
c.1276A>G (p.Arg426Gly)
2g.189563590T>GCA430367181SLC40A1c.1396A>C (p.Arg466=)
c.1276A>C (p.Arg426=)
2g.189563591A=CA1315653795SLC40A1c.1395T= (p.Ala465=)
c.1275T= (p.Ala425=)
2g.189563591A>CCA430367182SLC40A1c.1395T>G (p.Ala465=)
c.1275T>G (p.Ala425=)
2g.189563591A>GCA2024069SLC40A1c.1395T>C (p.Ala465=)
c.1275T>C (p.Ala425=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563591A>TCA430367183SLC40A1c.1395T>A (p.Ala465=)
c.1275T>A (p.Ala425=)
2g.189563592G>ACA349987127SLC40A1c.1394C>T (p.Ala465Val)
c.1274C>T (p.Ala425Val)
2g.189563592G>CCA349987128SLC40A1c.1394C>G (p.Ala465Gly)
c.1274C>G (p.Ala425Gly)
2g.189563592G>TCA349987129SLC40A1c.1394C>A (p.Ala465Asp)
c.1274C>A (p.Ala425Asp)
2g.189563593C>ACA349987130SLC40A1c.1393G>T (p.Ala465Ser)
c.1273G>T (p.Ala425Ser)
2g.189563593C>GCA349987131SLC40A1c.1393G>C (p.Ala465Pro)
c.1273G>C (p.Ala425Pro)
2g.189563593C>TCA349987132SLC40A1c.1393G>A (p.Ala465Thr)
c.1273G>A (p.Ala425Thr)
 gnomAD v4
2g.189563594A>CCA430367184SLC40A1c.1392T>G (p.Ala464=)
c.1272T>G (p.Ala424=)
2g.189563594A>GCA430367186SLC40A1c.1392T>C (p.Ala464=)
c.1272T>C (p.Ala424=)
 dbSNP gnomAD v4
2g.189563594A>TCA430367187SLC40A1c.1392T>A (p.Ala464=)
c.1272T>A (p.Ala424=)
2g.189563595G>ACA349987134SLC40A1c.1391C>T (p.Ala464Val)
c.1271C>T (p.Ala424Val)
2g.189563595G>CCA349987135SLC40A1c.1391C>G (p.Ala464Gly)
c.1271C>G (p.Ala424Gly)
2g.189563595G>TCA349987133SLC40A1c.1391C>A (p.Ala464Asp)
c.1271C>A (p.Ala424Asp)
2g.189563596C>ACA349987136SLC40A1c.1390G>T (p.Ala464Ser)
c.1270G>T (p.Ala424Ser)
2g.189563596C>GCA349987137SLC40A1c.1390G>C (p.Ala464Pro)
c.1270G>C (p.Ala424Pro)
2g.189563596C>TCA349987138SLC40A1c.1390G>A (p.Ala464Thr)
c.1270G>A (p.Ala424Thr)
2g.189563597A>CCA349987139SLC40A1c.1389T>G (p.Ile463Met)
c.1269T>G (p.Ile423Met)
2g.189563597A>GCA430367189SLC40A1c.1389T>C (p.Ile463=)
c.1269T>C (p.Ile423=)
2g.189563597A>TCA430367188SLC40A1c.1389T>A (p.Ile463=)
c.1269T>A (p.Ile423=)
2g.189563598A=CA1315653797SLC40A1c.1388T= (p.Ile463=)
c.1268T= (p.Ile423=)
2g.189563598A>CCA349987141SLC40A1c.1388T>G (p.Ile463Ser)
c.1268T>G (p.Ile423Ser)
2g.189563598A>GCA2024070SLC40A1c.1388T>C (p.Ile463Thr)
c.1268T>C (p.Ile423Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563598A>TCA349987140SLC40A1c.1388T>A (p.Ile463Asn)
c.1268T>A (p.Ile423Asn)
2g.189563599T>ACA349987142SLC40A1c.1387A>T (p.Ile463Phe)
c.1267A>T (p.Ile423Phe)
2g.189563599T>CCA349987143SLC40A1c.1387A>G (p.Ile463Val)
c.1267A>G (p.Ile423Val)
2g.189563599T>GCA349987144SLC40A1c.1387A>C (p.Ile463Leu)
c.1267A>C (p.Ile423Leu)
2g.189563600G>ACA430367190SLC40A1c.1386C>T (p.Val462=)
c.1266C>T (p.Val422=)
 gnomAD v4
2g.189563600G>CCA430367191SLC40A1c.1386C>G (p.Val462=)
c.1266C>G (p.Val422=)
2g.189563600G>TCA430367192SLC40A1c.1386C>A (p.Val462=)
c.1266C>A (p.Val422=)
2g.189563601A>CCA349987145SLC40A1c.1385T>G (p.Val462Gly)
c.1265T>G (p.Val422Gly)
2g.189563601A>GCA349987146SLC40A1c.1385T>C (p.Val462Ala)
c.1265T>C (p.Val422Ala)
2g.189563601A>TCA349987147SLC40A1c.1385T>A (p.Val462Asp)
c.1265T>A (p.Val422Asp)
2g.189563602C>ACA349987148SLC40A1c.1384G>T (p.Val462Phe)
c.1264G>T (p.Val422Phe)
2g.189563602C=CA1315653800SLC40A1c.1384G= (p.Val462=)
c.1264G= (p.Val422=)
2g.189563602C>GCA349987149SLC40A1c.1384G>C (p.Val462Leu)
c.1264G>C (p.Val422Leu)
2g.189563602C>TCA2024071SLC40A1c.1384G>A (p.Val462Ile)
c.1264G>A (p.Val422Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189563603G>ACA2024072SLC40A1c.1383C>T (p.Gly461=)
c.1263C>T (p.Gly421=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563603G>CCA430367194SLC40A1c.1383C>G (p.Gly461=)
c.1263C>G (p.Gly421=)
2g.189563603G=CA1315653802SLC40A1c.1383C= (p.Gly461=)
c.1263C= (p.Gly421=)
2g.189563603G>TCA430367195SLC40A1c.1383C>A (p.Gly461=)
c.1263C>A (p.Gly421=)
 gnomAD v4
2g.189563604C>ACA349987152SLC40A1c.1382G>T (p.Gly461Val)
c.1262G>T (p.Gly421Val)
2g.189563604C>GCA349987150SLC40A1c.1382G>C (p.Gly461Ala)
c.1262G>C (p.Gly421Ala)
2g.189563604C>TCA349987151SLC40A1c.1382G>A (p.Gly461Asp)
c.1262G>A (p.Gly421Asp)
2g.189563605C>ACA349987153SLC40A1c.1381G>T (p.Gly461Cys)
c.1261G>T (p.Gly421Cys)
2g.189563605C>GCA349987154SLC40A1c.1381G>C (p.Gly461Arg)
c.1261G>C (p.Gly421Arg)
2g.189563605C>TCA349987155SLC40A1c.1381G>A (p.Gly461Ser)
c.1261G>A (p.Gly421Ser)
2g.189563606T>ACA430367196SLC40A1c.1380A>T (p.Ala460=)
c.1260A>T (p.Ala420=)
2g.189563606T>CCA62902879SLC40A1c.1380A>G (p.Ala460=)
c.1260A>G (p.Ala420=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563606T>GCA430367197SLC40A1c.1380A>C (p.Ala460=)
c.1260A>C (p.Ala420=)
2g.189563606T=CA1315653804SLC40A1c.1380A= (p.Ala460=)
c.1260A= (p.Ala420=)
2g.189563607G>ACA349987156SLC40A1c.1379C>T (p.Ala460Val)
c.1259C>T (p.Ala420Val)
 gnomAD v4
2g.189563607G>CCA2024073SLC40A1c.1379C>G (p.Ala460Gly)
c.1259C>G (p.Ala420Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563607G=CA1315653806SLC40A1c.1379C= (p.Ala460=)
c.1259C= (p.Ala420=)
2g.189563607G>TCA349987157SLC40A1c.1379C>A (p.Ala460Glu)
c.1259C>A (p.Ala420Glu)
2g.189563608C>ACA349987158SLC40A1c.1378G>T (p.Ala460Ser)
c.1258G>T (p.Ala420Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.189563608C=CA1315653808SLC40A1c.1378G= (p.Ala460=)
c.1258G= (p.Ala420=)
2g.189563608C>GCA349987159SLC40A1c.1378G>C (p.Ala460Pro)
c.1258G>C (p.Ala420Pro)
2g.189563608C>TCA349987160SLC40A1c.1378G>A (p.Ala460Thr)
c.1258G>A (p.Ala420Thr)
2g.189563609A>CCA349987161SLC40A1c.1377T>G (p.Phe459Leu)
c.1257T>G (p.Phe419Leu)
 gnomAD v4
2g.189563609A>GCA430367198SLC40A1c.1377T>C (p.Phe459=)
c.1257T>C (p.Phe419=)
 gnomAD v4
2g.189563609A>TCA349987162SLC40A1c.1377T>A (p.Phe459Leu)
c.1257T>A (p.Phe419Leu)
2g.189563610A>CCA349987165SLC40A1c.1376T>G (p.Phe459Cys)
c.1256T>G (p.Phe419Cys)
2g.189563610A>GCA349987163SLC40A1c.1376T>C (p.Phe459Ser)
c.1256T>C (p.Phe419Ser)
2g.189563610A>TCA349987164SLC40A1c.1376T>A (p.Phe459Tyr)
c.1256T>A (p.Phe419Tyr)
2g.189563611A>CCA349987166SLC40A1c.1375T>G (p.Phe459Val)
c.1255T>G (p.Phe419Val)
2g.189563611A>GCA349987167SLC40A1c.1375T>C (p.Phe459Leu)
c.1255T>C (p.Phe419Leu)
2g.189563611A>TCA349987168SLC40A1c.1375T>A (p.Phe459Ile)
c.1255T>A (p.Phe419Ile)
2g.189563612C>ACA430367199SLC40A1c.1374G>T (p.Leu458=)
c.1254G>T (p.Leu418=)
2g.189563612C=CA1315653810SLC40A1c.1374G= (p.Leu458=)
c.1254G= (p.Leu418=)
2g.189563612C>GCA430367200SLC40A1c.1374G>C (p.Leu458=)
c.1254G>C (p.Leu418=)
 gnomAD v4
2g.189563612C>TCA62902880SLC40A1c.1374G>A (p.Leu458=)
c.1254G>A (p.Leu418=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189563613A>CCA349987169SLC40A1c.1373T>G (p.Leu458Arg)
c.1253T>G (p.Leu418Arg)
2g.189563613A>GCA349987170SLC40A1c.1373T>C (p.Leu458Pro)
c.1253T>C (p.Leu418Pro)
2g.189563613A>TCA349987171SLC40A1c.1373T>A (p.Leu458Gln)
c.1253T>A (p.Leu418Gln)
 gnomAD v4
2g.189563614G>ACA430367201SLC40A1c.1372C>T (p.Leu458=)
c.1252C>T (p.Leu418=)
 gnomAD v4
2g.189563614G>CCA62902881SLC40A1c.1372C>G (p.Leu458Val)
c.1252C>G (p.Leu418Val)
 dbSNP gnomAD v3 gnomAD v4
2g.189563614G=CA1315653812SLC40A1c.1372C= (p.Leu458=)
c.1252C= (p.Leu418=)
2g.189563614G>TCA349987172SLC40A1c.1372C>A (p.Leu458Met)
c.1252C>A (p.Leu418Met)
2g.189563615C>ACA430367202SLC40A1c.1371G>T (p.Leu457=)
c.1251G>T (p.Leu417=)
2g.189563615C=CA1315653814SLC40A1c.1371G= (p.Leu457=)
c.1251G= (p.Leu417=)
2g.189563615C>GCA430367203SLC40A1c.1371G>C (p.Leu457=)
c.1251G>C (p.Leu417=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563615C>TCA2024074SLC40A1c.1371G>A (p.Leu457=)
c.1251G>A (p.Leu417=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563616A>CCA349987173SLC40A1c.1370T>G (p.Leu457Arg)
c.1250T>G (p.Leu417Arg)
2g.189563616A>GCA349987174SLC40A1c.1370T>C (p.Leu457Pro)
c.1250T>C (p.Leu417Pro)
2g.189563616A>TCA349987175SLC40A1c.1370T>A (p.Leu457Gln)
c.1250T>A (p.Leu417Gln)
2g.189563617G>ACA430367204SLC40A1c.1369C>T (p.Leu457=)
c.1249C>T (p.Leu417=)
2g.189563617G>CCA349987177SLC40A1c.1369C>G (p.Leu457Val)
c.1249C>G (p.Leu417Val)
2g.189563617G=CA1315653818SLC40A1c.1369C= (p.Leu457=)
c.1249C= (p.Leu417=)
2g.189563617G>TCA349987176SLC40A1c.1369C>A (p.Leu457Met)
c.1249C>A (p.Leu417Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563618A>CCA349987178SLC40A1c.1368T>G (p.Ser456Arg)
c.1248T>G (p.Ser416Arg)
2g.189563618A>GCA430367205SLC40A1c.1368T>C (p.Ser456=)
c.1248T>C (p.Ser416=)
2g.189563618A>TCA349987179SLC40A1c.1368T>A (p.Ser456Arg)
c.1248T>A (p.Ser416Arg)
2g.189563619C>ACA349987180SLC40A1c.1367G>T (p.Ser456Ile)
c.1247G>T (p.Ser416Ile)
2g.189563619C>GCA349987181SLC40A1c.1367G>C (p.Ser456Thr)
c.1247G>C (p.Ser416Thr)
2g.189563619C>TCA349987182SLC40A1c.1367G>A (p.Ser456Asn)
c.1247G>A (p.Ser416Asn)
2g.189563620T>ACA349987183SLC40A1c.1366A>T (p.Ser456Cys)
c.1246A>T (p.Ser416Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.189563620T>CCA349987184SLC40A1c.1366A>G (p.Ser456Gly)
c.1246A>G (p.Ser416Gly)
 gnomAD v3 gnomAD v4
2g.189563620T>GCA349987185SLC40A1c.1366A>C (p.Ser456Arg)
c.1246A>C (p.Ser416Arg)
2g.189563620T=CA1315653820SLC40A1c.1366A= (p.Ser456=)
c.1246A= (p.Ser416=)
2g.189563621G>ACA430367206SLC40A1c.1365C>T (p.Val455=)
c.1245C>T (p.Val415=)
2g.189563621G>CCA430367207SLC40A1c.1365C>G (p.Val455=)
c.1245C>G (p.Val415=)
2g.189563621G>TCA430367208SLC40A1c.1365C>A (p.Val455=)
c.1245C>A (p.Val415=)
2g.189563622A>CCA349987186SLC40A1c.1364T>G (p.Val455Gly)
c.1244T>G (p.Val415Gly)
2g.189563622A>GCA349987188SLC40A1c.1364T>C (p.Val455Ala)
c.1244T>C (p.Val415Ala)
2g.189563622A>TCA349987187SLC40A1c.1364T>A (p.Val455Asp)
c.1244T>A (p.Val415Asp)
2g.189563623C>ACA349987189SLC40A1c.1363G>T (p.Val455Phe)
c.1243G>T (p.Val415Phe)
2g.189563623C=CA1315653822SLC40A1c.1363G= (p.Val455=)
c.1243G= (p.Val415=)
2g.189563623C>GCA349987190SLC40A1c.1363G>C (p.Val455Leu)
c.1243G>C (p.Val415Leu)
2g.189563623C>TCA349987191SLC40A1c.1363G>A (p.Val455Ile)
c.1243G>A (p.Val415Ile)
 dbSNP
2g.189563624A=CA1315653824SLC40A1c.1362T= (p.Ser454=)
c.1242T= (p.Ser414=)
2g.189563624A>CCA2024075SLC40A1c.1362T>G (p.Ser454=)
c.1242T>G (p.Ser414=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563624A>GCA430367209SLC40A1c.1362T>C (p.Ser454=)
c.1242T>C (p.Ser414=)
 dbSNP gnomAD v3 gnomAD v4
2g.189563624A>TCA430367210SLC40A1c.1362T>A (p.Ser454=)
c.1242T>A (p.Ser414=)
 gnomAD v4
2g.189563627_189563628delCA2662328576SLC40A1c.1361_1362del (p.Ser454CysfsTer12)
c.1241_1242del (p.Ser414CysfsTer12)
 gnomAD v4
2g.189563625G>ACA349987192SLC40A1c.1361C>T (p.Ser454Phe)
c.1241C>T (p.Ser414Phe)
2g.189563625G>CCA349987194SLC40A1c.1361C>G (p.Ser454Cys)
c.1241C>G (p.Ser414Cys)
2g.189563625G>TCA349987193SLC40A1c.1361C>A (p.Ser454Tyr)
c.1241C>A (p.Ser414Tyr)
2g.189563626A>CCA349987195SLC40A1c.1360T>G (p.Ser454Ala)
c.1240T>G (p.Ser414Ala)
2g.189563626A>GCA349987196SLC40A1c.1360T>C (p.Ser454Pro)
c.1240T>C (p.Ser414Pro)
2g.189563626A>TCA349987197SLC40A1c.1360T>A (p.Ser454Thr)
c.1240T>A (p.Ser414Thr)
2g.189563627G>ACA430367211SLC40A1c.1359C>T (p.Ile453=)
c.1239C>T (p.Ile413=)
2g.189563627G>CCA349987198SLC40A1c.1359C>G (p.Ile453Met)
c.1239C>G (p.Ile413Met)
2g.189563627G>TCA430367212SLC40A1c.1359C>A (p.Ile453=)
c.1239C>A (p.Ile413=)
2g.189563628A>CCA349987199SLC40A1c.1358T>G (p.Ile453Ser)
c.1238T>G (p.Ile413Ser)
2g.189563628A>GCA349987200SLC40A1c.1358T>C (p.Ile453Thr)
c.1238T>C (p.Ile413Thr)
2g.189563628A>TCA349987201SLC40A1c.1358T>A (p.Ile453Asn)
c.1238T>A (p.Ile413Asn)
2g.189563629T>ACA2024076SLC40A1c.1357A>T (p.Ile453Phe)
c.1237A>T (p.Ile413Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563629T>CCA349987202SLC40A1c.1357A>G (p.Ile453Val)
c.1237A>G (p.Ile413Val)
 dbSNP gnomAD v3 gnomAD v4
2g.189563629T>GCA349987203SLC40A1c.1357A>C (p.Ile453Leu)
c.1237A>C (p.Ile413Leu)
2g.189563629T=CA1315653831SLC40A1c.1357A= (p.Ile453=)
c.1237A= (p.Ile413=)
2g.189563630T>ACA430367213SLC40A1c.1356A>T (p.Ile452=)
c.1236A>T (p.Ile412=)
2g.189563630T>CCA349987204SLC40A1c.1356A>G (p.Ile452Met)
c.1236A>G (p.Ile412Met)
 gnomAD v4
2g.189563630T>GCA430367214SLC40A1c.1356A>C (p.Ile452=)
c.1236A>C (p.Ile412=)
2g.189563631A>CCA349987205SLC40A1c.1355T>G (p.Ile452Arg)
c.1235T>G (p.Ile412Arg)
2g.189563631A>GCA349987207SLC40A1c.1355T>C (p.Ile452Thr)
c.1235T>C (p.Ile412Thr)
2g.189563631A>TCA349987206SLC40A1c.1355T>A (p.Ile452Lys)
c.1235T>A (p.Ile412Lys)
2g.189563632T>ACA349987208SLC40A1c.1354A>T (p.Ile452Leu)
c.1234A>T (p.Ile412Leu)
2g.189563632T>CCA349987210SLC40A1c.1354A>G (p.Ile452Val)
c.1234A>G (p.Ile412Val)
 gnomAD v4
2g.189563632T>GCA349987209SLC40A1c.1354A>C (p.Ile452Leu)
c.1234A>C (p.Ile412Leu)
2g.189563633G>ACA430367215SLC40A1c.1353C>T (p.Pro451=)
c.1233C>T (p.Pro411=)
 dbSNP gnomAD v4
2g.189563633G>CCA430367216SLC40A1c.1353C>G (p.Pro451=)
c.1233C>G (p.Pro411=)
2g.189563633G=CA1315653833SLC40A1c.1353C= (p.Pro451=)
c.1233C= (p.Pro411=)
2g.189563633G>TCA430367217SLC40A1c.1353C>A (p.Pro451=)
c.1233C>A (p.Pro411=)
2g.189563634G>ACA349987211SLC40A1c.1352C>T (p.Pro451Leu)
c.1232C>T (p.Pro411Leu)
2g.189563634G>CCA2024077SLC40A1c.1352C>G (p.Pro451Arg)
c.1232C>G (p.Pro411Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563634G=CA1315653835SLC40A1c.1352C= (p.Pro451=)
c.1232C= (p.Pro411=)
2g.189563634G>TCA349987212SLC40A1c.1352C>A (p.Pro451His)
c.1232C>A (p.Pro411His)
2g.189563635G>ACA349987213SLC40A1c.1351C>T (p.Pro451Ser)
c.1231C>T (p.Pro411Ser)
 gnomAD v4
2g.189563635G>CCA349987214SLC40A1c.1351C>G (p.Pro451Ala)
c.1231C>G (p.Pro411Ala)
2g.189563635G>TCA349987215SLC40A1c.1351C>A (p.Pro451Thr)
c.1231C>A (p.Pro411Thr)
 gnomAD v2 gnomAD v3 gnomAD v4
2g.189563636C>ACA430367218SLC40A1c.1350G>T (p.Val450=)
c.1230G>T (p.Val410=)
 gnomAD v4
2g.189563636C=CA1315653839SLC40A1c.1350G= (p.Val450=)
c.1230G= (p.Val410=)
2g.189563636C>GCA430367219SLC40A1c.1350G>C (p.Val450=)
c.1230G>C (p.Val410=)
2g.189563636C>TCA2024078SLC40A1c.1350G>A (p.Val450=)
c.1230G>A (p.Val410=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563637A>CCA349987216SLC40A1c.1349T>G (p.Val450Gly)
c.1229T>G (p.Val410Gly)
 gnomAD v4
2g.189563637A>GCA349987217SLC40A1c.1349T>C (p.Val450Ala)
c.1229T>C (p.Val410Ala)
 gnomAD v4
2g.189563637A>TCA349987218SLC40A1c.1349T>A (p.Val450Glu)
c.1229T>A (p.Val410Glu)
 COSMIC
2g.189563638C>ACA349987221SLC40A1c.1348G>T (p.Val450Leu)
c.1228G>T (p.Val410Leu)
2g.189563638C>GCA349987220SLC40A1c.1348G>C (p.Val450Leu)
c.1228G>C (p.Val410Leu)
 gnomAD v4
2g.189563638C>TCA349987219SLC40A1c.1348G>A (p.Val450Met)
c.1228G>A (p.Val410Met)
2g.189563639A>CCA430367220SLC40A1c.1347T>G (p.Ser449=)
c.1227T>G (p.Ser409=)
2g.189563639A>GCA430367222SLC40A1c.1347T>C (p.Ser449=)
c.1227T>C (p.Ser409=)
2g.189563639A>TCA430367221SLC40A1c.1347T>A (p.Ser449=)
c.1227T>A (p.Ser409=)
2g.189563640G>ACA349987222SLC40A1c.1346C>T (p.Ser449Phe)
c.1226C>T (p.Ser409Phe)
 gnomAD v4
2g.189563640G>CCA349987223SLC40A1c.1346C>G (p.Ser449Cys)
c.1226C>G (p.Ser409Cys)
2g.189563640G=CA1315653841SLC40A1c.1346C= (p.Ser449=)
c.1226C= (p.Ser409=)
2g.189563640G>TCA349987224SLC40A1c.1346C>A (p.Ser449Tyr)
c.1226C>A (p.Ser409Tyr)
 dbSNP gnomAD v2
2g.189563641A=CA1315653844SLC40A1c.1345T= (p.Ser449=)
c.1225T= (p.Ser409=)
2g.189563641A>CCA349987225SLC40A1c.1345T>G (p.Ser449Ala)
c.1225T>G (p.Ser409Ala)
2g.189563641A>GCA349987226SLC40A1c.1345T>C (p.Ser449Pro)
c.1225T>C (p.Ser409Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.189563641A>TCA349987227SLC40A1c.1345T>A (p.Ser449Thr)
c.1225T>A (p.Ser409Thr)
2g.189563642T>ACA349987228SLC40A1c.1344A>T (p.Glu448Asp)
c.1224A>T (p.Glu408Asp)
2g.189563642T>CCA430367223SLC40A1c.1344A>G (p.Glu448=)
c.1224A>G (p.Glu408=)
2g.189563642T>GCA349987229SLC40A1c.1344A>C (p.Glu448Asp)
c.1224A>C (p.Glu408Asp)
2g.189563643T>ACA349987230SLC40A1c.1343A>T (p.Glu448Val)
c.1223A>T (p.Glu408Val)
2g.189563643T>CCA349987231SLC40A1c.1343A>G (p.Glu448Gly)
c.1223A>G (p.Glu408Gly)
2g.189563643T>GCA349987232SLC40A1c.1343A>C (p.Glu448Ala)
c.1223A>C (p.Glu408Ala)
2g.189563644C>ACA349987234SLC40A1c.1342G>T (p.Glu448Ter)
c.1222G>T (p.Glu408Ter)
2g.189563644C>GCA349987235SLC40A1c.1342G>C (p.Glu448Gln)
c.1222G>C (p.Glu408Gln)
2g.189563644C>TCA349987233SLC40A1c.1342G>A (p.Glu448Lys)
c.1222G>A (p.Glu408Lys)
 gnomAD v4
2g.189563645A=CA1315653847SLC40A1c.1341T= (p.Pro447=)
c.1221T= (p.Pro407=)
2g.189563645A>CCA430367224SLC40A1c.1341T>G (p.Pro447=)
c.1221T>G (p.Pro407=)
 gnomAD v4
2g.189563645A>GCA430367225SLC40A1c.1341T>C (p.Pro447=)
c.1221T>C (p.Pro407=)
 dbSNP gnomAD v2 gnomAD v4
2g.189563645A>TCA430367226SLC40A1c.1341T>A (p.Pro447=)
c.1221T>A (p.Pro407=)
2g.189563646G>ACA349987236SLC40A1c.1340C>T (p.Pro447Leu)
c.1220C>T (p.Pro407Leu)
 gnomAD v4
2g.189563646G>CCA349987237SLC40A1c.1340C>G (p.Pro447Arg)
c.1220C>G (p.Pro407Arg)
 gnomAD v4
2g.189563646G>TCA349987238SLC40A1c.1340C>A (p.Pro447His)
c.1220C>A (p.Pro407His)
2g.189563647G>ACA349987239SLC40A1c.1339C>T (p.Pro447Ser)
c.1219C>T (p.Pro407Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.189563647G>CCA349987240SLC40A1c.1339C>G (p.Pro447Ala)
c.1219C>G (p.Pro407Ala)
2g.189563647G=CA1315653851SLC40A1c.1339C= (p.Pro447=)
c.1219C= (p.Pro407=)
2g.189563647G>TCA349987241SLC40A1c.1339C>A (p.Pro447Thr)
c.1219C>A (p.Pro407Thr)
2g.189563648A>CCA349987243SLC40A1c.1338T>G (p.Ser446Arg)
c.1218T>G (p.Ser406Arg)
2g.189563648A>GCA430367227SLC40A1c.1338T>C (p.Ser446=)
c.1218T>C (p.Ser406=)
2g.189563648A>TCA349987242SLC40A1c.1338T>A (p.Ser446Arg)
c.1218T>A (p.Ser406Arg)
2g.189563649C>ACA349987244SLC40A1c.1337G>T (p.Ser446Ile)
c.1217G>T (p.Ser406Ile)
2g.189563649C=CA1315653853SLC40A1c.1337G= (p.Ser446=)
c.1217G= (p.Ser406=)
2g.189563649C>GCA349987245SLC40A1c.1337G>C (p.Ser446Thr)
c.1217G>C (p.Ser406Thr)
2g.189563649C>TCA349987246SLC40A1c.1337G>A (p.Ser446Asn)
c.1217G>A (p.Ser406Asn)
 dbSNP
2g.189563650T>ACA349987247SLC40A1c.1336A>T (p.Ser446Cys)
c.1216A>T (p.Ser406Cys)
2g.189563650T>CCA349987248SLC40A1c.1336A>G (p.Ser446Gly)
c.1216A>G (p.Ser406Gly)
2g.189563650T>GCA349987249SLC40A1c.1336A>C (p.Ser446Arg)
c.1216A>C (p.Ser406Arg)
2g.189563651T>ACA430367228SLC40A1c.1335A>T (p.Thr445=)
c.1215A>T (p.Thr405=)
2g.189563651T>CCA430367229SLC40A1c.1335A>G (p.Thr445=)
c.1215A>G (p.Thr405=)
2g.189563651T>GCA430367230SLC40A1c.1335A>C (p.Thr445=)
c.1215A>C (p.Thr405=)
2g.189563652G>ACA349987250SLC40A1c.1334C>T (p.Thr445Ile)
c.1214C>T (p.Thr405Ile)
 gnomAD v4
2g.189563652G>CCA349987252SLC40A1c.1334C>G (p.Thr445Arg)
c.1214C>G (p.Thr405Arg)
 gnomAD v4
2g.189563652G>TCA349987251SLC40A1c.1334C>A (p.Thr445Lys)
c.1214C>A (p.Thr405Lys)
2g.189563653T>ACA349987253SLC40A1c.1333A>T (p.Thr445Ser)
c.1213A>T (p.Thr405Ser)
2g.189563653T>CCA62902882SLC40A1c.1333A>G (p.Thr445Ala)
c.1213A>G (p.Thr405Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.189563653T>GCA349987254SLC40A1c.1333A>C (p.Thr445Pro)
c.1213A>C (p.Thr405Pro)
2g.189563653T=CA1315653855SLC40A1c.1333A= (p.Thr445=)
c.1213A= (p.Thr405=)
2g.189563654C>ACA349987255SLC40A1c.1332G>T (p.Glu444Asp)
c.1212G>T (p.Glu404Asp)
2g.189563654C=CA1315653860SLC40A1c.1332G= (p.Glu444=)
c.1212G= (p.Glu404=)
2g.189563654C>GCA2024079SLC40A1c.1332G>C (p.Glu444Asp)
c.1212G>C (p.Glu404Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563654C>TCA2024080SLC40A1c.1332G>A (p.Glu444=)
c.1212G>A (p.Glu404=)
 dbSNP ExAC gnomAD v4
2g.189563655T>ACA349987256SLC40A1c.1331A>T (p.Glu444Val)
c.1211A>T (p.Glu404Val)
2g.189563655T>CCA349987257SLC40A1c.1331A>G (p.Glu444Gly)
c.1211A>G (p.Glu404Gly)
2g.189563655T>GCA349987258SLC40A1c.1331A>C (p.Glu444Ala)
c.1211A>C (p.Glu404Ala)
2g.189563656C>ACA349987259SLC40A1c.1330G>T (p.Glu444Ter)
c.1210G>T (p.Glu404Ter)
2g.189563656C=CA1315653863SLC40A1c.1330G= (p.Glu444=)
c.1210G= (p.Glu404=)
2g.189563656C>GCA349987260SLC40A1c.1330G>C (p.Glu444Gln)
c.1210G>C (p.Glu404Gln)
 gnomAD v4
2g.189563656C>TCA349987261SLC40A1c.1330G>A (p.Glu444Lys)
c.1210G>A (p.Glu404Lys)
 dbSNP
2g.189563657C>ACA430367231SLC40A1c.1329G>T (p.Pro443=)
c.1209G>T (p.Pro403=)
2g.189563657C=CA1315653865SLC40A1c.1329G= (p.Pro443=)
c.1209G= (p.Pro403=)
2g.189563657C>GCA430367232SLC40A1c.1329G>C (p.Pro443=)
c.1209G>C (p.Pro403=)
2g.189563657C>TCA2024081SLC40A1c.1329G>A (p.Pro443=)
c.1209G>A (p.Pro403=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563658G>ACA2024082SLC40A1c.1328C>T (p.Pro443Leu)
c.1208C>T (p.Pro403Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563658G>CCA349987262SLC40A1c.1328C>G (p.Pro443Arg)
c.1208C>G (p.Pro403Arg)
2g.189563658G=CA1315653869SLC40A1c.1328C= (p.Pro443=)
c.1208C= (p.Pro403=)
2g.189563658G>TCA349987263SLC40A1c.1328C>A (p.Pro443Gln)
c.1208C>A (p.Pro403Gln)
2g.189563659G>ACA349987264SLC40A1c.1327C>T (p.Pro443Ser)
c.1207C>T (p.Pro403Ser)
2g.189563659G>CCA349987266SLC40A1c.1327C>G (p.Pro443Ala)
c.1207C>G (p.Pro403Ala)
2g.189563659G>TCA349987265SLC40A1c.1327C>A (p.Pro443Thr)
c.1207C>A (p.Pro403Thr)

Number of alleles fetched