Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189562033C>ACA349986737SLC40A1c.1561G>T (p.Gly521Cys)
c.1441G>T (p.Gly481Cys)
2g.189562033C>GCA349986738SLC40A1c.1561G>C (p.Gly521Arg)
c.1441G>C (p.Gly481Arg)
2g.189562033C>TCA349986739SLC40A1c.1561G>A (p.Gly521Ser)
c.1441G>A (p.Gly481Ser)
2g.189562034A>CCA349986740SLC40A1c.1560T>G (p.Phe520Leu)
c.1440T>G (p.Phe480Leu)
2g.189562034A>GCA430502483SLC40A1c.1560T>C (p.Phe520=)
c.1440T>C (p.Phe480=)
2g.189562034A>TCA349986741SLC40A1c.1560T>A (p.Phe520Leu)
c.1440T>A (p.Phe480Leu)
2g.189562035A>CCA349986742SLC40A1c.1559T>G (p.Phe520Cys)
c.1439T>G (p.Phe480Cys)
2g.189562035A>GCA349986743SLC40A1c.1559T>C (p.Phe520Ser)
c.1439T>C (p.Phe480Ser)
2g.189562035A>TCA349986744SLC40A1c.1559T>A (p.Phe520Tyr)
c.1439T>A (p.Phe480Tyr)
2g.189562036A>CCA349986745SLC40A1c.1558T>G (p.Phe520Val)
c.1438T>G (p.Phe480Val)
2g.189562036A>GCA349986747SLC40A1c.1558T>C (p.Phe520Leu)
c.1438T>C (p.Phe480Leu)
2g.189562036A>TCA349986746SLC40A1c.1558T>A (p.Phe520Ile)
c.1438T>A (p.Phe480Ile)
2g.189562037A>CCA430502484SLC40A1c.1557T>G (p.Ala519=)
c.1437T>G (p.Ala479=)
2g.189562037A>GCA430502485SLC40A1c.1557T>C (p.Ala519=)
c.1437T>C (p.Ala479=)
2g.189562037A>TCA430502488SLC40A1c.1557T>A (p.Ala519=)
c.1437T>A (p.Ala479=)
2g.189562038G>ACA349986748SLC40A1c.1556C>T (p.Ala519Val)
c.1436C>T (p.Ala479Val)
2g.189562038G>CCA349986749SLC40A1c.1556C>G (p.Ala519Gly)
c.1436C>G (p.Ala479Gly)
2g.189562038G>TCA349986750SLC40A1c.1556C>A (p.Ala519Asp)
c.1436C>A (p.Ala479Asp)
2g.189562039C>ACA349986751SLC40A1c.1555G>T (p.Ala519Ser)
c.1435G>T (p.Ala479Ser)
2g.189562039C>GCA349986752SLC40A1c.1555G>C (p.Ala519Pro)
c.1435G>C (p.Ala479Pro)
2g.189562039C>TCA349986753SLC40A1c.1555G>A (p.Ala519Thr)
c.1435G>A (p.Ala479Thr)
2g.189562040T>ACA349986755SLC40A1c.1554A>T (p.Glu518Asp)
c.1434A>T (p.Glu478Asp)
 gnomAD v4
2g.189562040T>CCA430502498SLC40A1c.1554A>G (p.Glu518=)
c.1434A>G (p.Glu478=)
 gnomAD v4
2g.189562040T>GCA349986754SLC40A1c.1554A>C (p.Glu518Asp)
c.1434A>C (p.Glu478Asp)
2g.189562041T>ACA349986756SLC40A1c.1553A>T (p.Glu518Val)
c.1433A>T (p.Glu478Val)
2g.189562041T>CCA349986757SLC40A1c.1553A>G (p.Glu518Gly)
c.1433A>G (p.Glu478Gly)
2g.189562041T>GCA349986758SLC40A1c.1553A>C (p.Glu518Ala)
c.1433A>C (p.Glu478Ala)
2g.189562042C>ACA349986759SLC40A1c.1552G>T (p.Glu518Ter)
c.1432G>T (p.Glu478Ter)
2g.189562042C>GCA349986760SLC40A1c.1552G>C (p.Glu518Gln)
c.1432G>C (p.Glu478Gln)
2g.189562042C>TCA349986761SLC40A1c.1552G>A (p.Glu518Lys)
c.1432G>A (p.Glu478Lys)
2g.189562043A>CCA430502503SLC40A1c.1551T>G (p.Pro517=)
c.1431T>G (p.Pro477=)
2g.189562043A>GCA430502505SLC40A1c.1551T>C (p.Pro517=)
c.1431T>C (p.Pro477=)
 gnomAD v4
2g.189562043A>TCA430502507SLC40A1c.1551T>A (p.Pro517=)
c.1431T>A (p.Pro477=)
2g.189562044G>ACA349986762SLC40A1c.1550C>T (p.Pro517Leu)
c.1430C>T (p.Pro477Leu)
2g.189562044G>CCA349986764SLC40A1c.1550C>G (p.Pro517Arg)
c.1430C>G (p.Pro477Arg)
2g.189562044G>TCA349986763SLC40A1c.1550C>A (p.Pro517His)
c.1430C>A (p.Pro477His)
 gnomAD v4
2g.189562045G>ACA349986765SLC40A1c.1549C>T (p.Pro517Ser)
c.1429C>T (p.Pro477Ser)
2g.189562045G>CCA349986766SLC40A1c.1549C>G (p.Pro517Ala)
c.1429C>G (p.Pro477Ala)
2g.189562045G>TCA349986767SLC40A1c.1549C>A (p.Pro517Thr)
c.1429C>A (p.Pro477Thr)
2g.189562046A>CCA349986768SLC40A1c.1548T>G (p.Asn516Lys)
c.1428T>G (p.Asn476Lys)
2g.189562046A>GCA430502511SLC40A1c.1548T>C (p.Asn516=)
c.1428T>C (p.Asn476=)
 gnomAD v4
2g.189562046A>TCA349986769SLC40A1c.1548T>A (p.Asn516Lys)
c.1428T>A (p.Asn476Lys)
2g.189562047T>ACA349986770SLC40A1c.1547A>T (p.Asn516Ile)
c.1427A>T (p.Asn476Ile)
2g.189562047T>CCA349986771SLC40A1c.1547A>G (p.Asn516Ser)
c.1427A>G (p.Asn476Ser)
2g.189562047T>GCA349986772SLC40A1c.1547A>C (p.Asn516Thr)
c.1427A>C (p.Asn476Thr)
2g.189562048T>ACA349986773SLC40A1c.1546A>T (p.Asn516Tyr)
c.1426A>T (p.Asn476Tyr)
2g.189562048T>CCA349986774SLC40A1c.1546A>G (p.Asn516Asp)
c.1426A>G (p.Asn476Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.189562048T>GCA349986775SLC40A1c.1546A>C (p.Asn516His)
c.1426A>C (p.Asn476His)
2g.189562048T=CA1315652817SLC40A1c.1546A= (p.Asn516=)
c.1426A= (p.Asn476=)
2g.189562049T>ACA430502515SLC40A1c.1545A>T (p.Pro515=)
c.1425A>T (p.Pro475=)
2g.189562049T>CCA430502520SLC40A1c.1545A>G (p.Pro515=)
c.1425A>G (p.Pro475=)
 COSMIC
2g.189562049T>GCA430502517SLC40A1c.1545A>C (p.Pro515=)
c.1425A>C (p.Pro475=)
2g.189562050G>ACA349986776SLC40A1c.1544C>T (p.Pro515Leu)
c.1424C>T (p.Pro475Leu)
2g.189562050G>CCA349986778SLC40A1c.1544C>G (p.Pro515Arg)
c.1424C>G (p.Pro475Arg)
2g.189562050G>TCA349986777SLC40A1c.1544C>A (p.Pro515Gln)
c.1424C>A (p.Pro475Gln)
2g.189562051G>ACA349986779SLC40A1c.1543C>T (p.Pro515Ser)
c.1423C>T (p.Pro475Ser)
2g.189562051G>CCA349986780SLC40A1c.1543C>G (p.Pro515Ala)
c.1423C>G (p.Pro475Ala)
2g.189562051G>TCA349986781SLC40A1c.1543C>A (p.Pro515Thr)
c.1423C>A (p.Pro475Thr)
2g.189562052A>CCA430502523SLC40A1c.1542T>G (p.Ala514=)
c.1422T>G (p.Ala474=)
 gnomAD v4
2g.189562052A>GCA430502524SLC40A1c.1542T>C (p.Ala514=)
c.1422T>C (p.Ala474=)
2g.189562052A>TCA430502526SLC40A1c.1542T>A (p.Ala514=)
c.1422T>A (p.Ala474=)
2g.189562053G>ACA349986782SLC40A1c.1541C>T (p.Ala514Val)
c.1421C>T (p.Ala474Val)
2g.189562053G>CCA349986783SLC40A1c.1541C>G (p.Ala514Gly)
c.1421C>G (p.Ala474Gly)
2g.189562053G>TCA349986784SLC40A1c.1541C>A (p.Ala514Asp)
c.1421C>A (p.Ala474Asp)
2g.189562054C>ACA349986787SLC40A1c.1540G>T (p.Ala514Ser)
c.1420G>T (p.Ala474Ser)
2g.189562054C>GCA349986786SLC40A1c.1540G>C (p.Ala514Pro)
c.1420G>C (p.Ala474Pro)
2g.189562054C>TCA349986785SLC40A1c.1540G>A (p.Ala514Thr)
c.1420G>A (p.Ala474Thr)
2g.189562055C>ACA430502530SLC40A1c.1539G>T (p.Leu513=)
c.1419G>T (p.Leu473=)
2g.189562055C>GCA430502532SLC40A1c.1539G>C (p.Leu513=)
c.1419G>C (p.Leu473=)
2g.189562055C>TCA430502531SLC40A1c.1539G>A (p.Leu513=)
c.1419G>A (p.Leu473=)
2g.189562056A>CCA349986788SLC40A1c.1538T>G (p.Leu513Arg)
c.1418T>G (p.Leu473Arg)
2g.189562056A>GCA349986789SLC40A1c.1538T>C (p.Leu513Pro)
c.1418T>C (p.Leu473Pro)
2g.189562056A>TCA349986790SLC40A1c.1538T>A (p.Leu513Gln)
c.1418T>A (p.Leu473Gln)
2g.189562057G>ACA430502535SLC40A1c.1537C>T (p.Leu513=)
c.1417C>T (p.Leu473=)
 gnomAD v4
2g.189562057G>CCA349986791SLC40A1c.1537C>G (p.Leu513Val)
c.1417C>G (p.Leu473Val)
2g.189562057G>TCA349986792SLC40A1c.1537C>A (p.Leu513Met)
c.1417C>A (p.Leu473Met)
2g.189562058G>ACA430502536SLC40A1c.1536C>T (p.Ile512=)
c.1416C>T (p.Ile472=)
2g.189562058G>CCA349986793SLC40A1c.1536C>G (p.Ile512Met)
c.1416C>G (p.Ile472Met)
2g.189562058G>TCA430502537SLC40A1c.1536C>A (p.Ile512=)
c.1416C>A (p.Ile472=)
2g.189562059A>CCA349986794SLC40A1c.1535T>G (p.Ile512Ser)
c.1415T>G (p.Ile472Ser)
2g.189562059A>GCA349986796SLC40A1c.1535T>C (p.Ile512Thr)
c.1415T>C (p.Ile472Thr)
2g.189562059A>TCA349986795SLC40A1c.1535T>A (p.Ile512Asn)
c.1415T>A (p.Ile472Asn)
2g.189562060T>ACA349986797SLC40A1c.1534A>T (p.Ile512Phe)
c.1414A>T (p.Ile472Phe)
2g.189562060T>CCA349986798SLC40A1c.1534A>G (p.Ile512Val)
c.1414A>G (p.Ile472Val)
2g.189562060T>GCA349986799SLC40A1c.1534A>C (p.Ile512Leu)
c.1414A>C (p.Ile472Leu)
2g.189562061G>ACA430502540SLC40A1c.1533C>T (p.Val511=)
c.1413C>T (p.Val471=)
 ClinVar dbSNP gnomAD v4
2g.189562061G>CCA430502541SLC40A1c.1533C>G (p.Val511=)
c.1413C>G (p.Val471=)
2g.189562061G=CA1315652821SLC40A1c.1533C= (p.Val511=)
c.1413C= (p.Val471=)
2g.189562061G>TCA430502542SLC40A1c.1533C>A (p.Val511=)
c.1413C>A (p.Val471=)
 gnomAD v4
2g.189562062A>CCA349986800SLC40A1c.1532T>G (p.Val511Gly)
c.1412T>G (p.Val471Gly)
2g.189562062A>GCA349986801SLC40A1c.1532T>C (p.Val511Ala)
c.1412T>C (p.Val471Ala)
2g.189562062A>TCA349986802SLC40A1c.1532T>A (p.Val511Asp)
c.1412T>A (p.Val471Asp)
2g.189562063C>ACA349986803SLC40A1c.1531G>T (p.Val511Phe)
c.1411G>T (p.Val471Phe)
2g.189562063C>GCA349986804SLC40A1c.1531G>C (p.Val511Leu)
c.1411G>C (p.Val471Leu)
2g.189562063C>TCA349986805SLC40A1c.1531G>A (p.Val511Ile)
c.1411G>A (p.Val471Ile)
 COSMIC
2g.189562064C>ACA349986806SLC40A1c.1530G>T (p.Met510Ile)
c.1410G>T (p.Met470Ile)
2g.189562064C=CA1315652829SLC40A1c.1530G= (p.Met510=)
c.1410G= (p.Met470=)
2g.189562064C>GCA349986807SLC40A1c.1530G>C (p.Met510Ile)
c.1410G>C (p.Met470Ile)
 COSMIC
2g.189562064C>TCA2024049SLC40A1c.1530G>A (p.Met510Ile)
c.1410G>A (p.Met470Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189562065A=CA1315652832SLC40A1c.1529T= (p.Met510=)
c.1409T= (p.Met470=)
2g.189562065A>CCA349986808SLC40A1c.1529T>G (p.Met510Arg)
c.1409T>G (p.Met470Arg)
2g.189562065A>GCA349986810SLC40A1c.1529T>C (p.Met510Thr)
c.1409T>C (p.Met470Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189562065A>TCA349986809SLC40A1c.1529T>A (p.Met510Lys)
c.1409T>A (p.Met470Lys)
2g.189562066T>ACA349986811SLC40A1c.1528A>T (p.Met510Leu)
c.1408A>T (p.Met470Leu)
2g.189562066T>CCA349986812SLC40A1c.1528A>G (p.Met510Val)
c.1408A>G (p.Met470Val)
 gnomAD v4
2g.189562066T>GCA349986813SLC40A1c.1528A>C (p.Met510Leu)
c.1408A>C (p.Met470Leu)
2g.189562067G>ACA430502548SLC40A1c.1527C>T (p.Ile509=)
c.1407C>T (p.Ile469=)
2g.189562067G>CCA349986814SLC40A1c.1527C>G (p.Ile509Met)
c.1407C>G (p.Ile469Met)
2g.189562067G>TCA430502550SLC40A1c.1527C>A (p.Ile509=)
c.1407C>A (p.Ile469=)
2g.189562068A>CCA349986815SLC40A1c.1526T>G (p.Ile509Ser)
c.1406T>G (p.Ile469Ser)
2g.189562068A>GCA349986816SLC40A1c.1526T>C (p.Ile509Thr)
c.1406T>C (p.Ile469Thr)
2g.189562068A>TCA349986817SLC40A1c.1526T>A (p.Ile509Asn)
c.1406T>A (p.Ile469Asn)
2g.189562069T>ACA349986818SLC40A1c.1525A>T (p.Ile509Phe)
c.1405A>T (p.Ile469Phe)
 COSMIC
2g.189562069T>CCA349986819SLC40A1c.1525A>G (p.Ile509Val)
c.1405A>G (p.Ile469Val)
2g.189562069T>GCA349986820SLC40A1c.1525A>C (p.Ile509Leu)
c.1405A>C (p.Ile469Leu)
2g.189562070G>ACA430502554SLC40A1c.1524C>T (p.Phe508=)
c.1404C>T (p.Phe468=)
2g.189562070G>CCA349986821SLC40A1c.1524C>G (p.Phe508Leu)
c.1404C>G (p.Phe468Leu)
2g.189562070G>TCA349986822SLC40A1c.1524C>A (p.Phe508Leu)
c.1404C>A (p.Phe468Leu)
2g.189562071A>CCA349986825SLC40A1c.1523T>G (p.Phe508Cys)
c.1403T>G (p.Phe468Cys)
2g.189562071A>GCA349986823SLC40A1c.1523T>C (p.Phe508Ser)
c.1403T>C (p.Phe468Ser)
2g.189562071A>TCA349986824SLC40A1c.1523T>A (p.Phe508Tyr)
c.1403T>A (p.Phe468Tyr)
2g.189562072A>CCA349986826SLC40A1c.1522T>G (p.Phe508Val)
c.1402T>G (p.Phe468Val)
2g.189562072A>GCA349986827SLC40A1c.1522T>C (p.Phe508Leu)
c.1402T>C (p.Phe468Leu)
 gnomAD v4
2g.189562072A>TCA349986828SLC40A1c.1522T>A (p.Phe508Ile)
c.1402T>A (p.Phe468Ile)
2g.189562073A>CCA349986829SLC40A1c.1521T>G (p.His507Gln)
c.1401T>G (p.His467Gln)
2g.189562073A>GCA430502561SLC40A1c.1521T>C (p.His507=)
c.1401T>C (p.His467=)
2g.189562073A>TCA349986830SLC40A1c.1521T>A (p.His507Gln)
c.1401T>A (p.His467Gln)
2g.189562074T>ACA349986831SLC40A1c.1520A>T (p.His507Leu)
c.1400A>T (p.His467Leu)
2g.189562074T>CCA335971SLC40A1c.1520A>G (p.His507Arg)
c.1400A>G (p.His467Arg)
 ClinVar dbSNP
2g.189562074T>GCA349986832SLC40A1c.1520A>C (p.His507Pro)
c.1400A>C (p.His467Pro)
2g.189562074T=CA1315652839SLC40A1c.1520A= (p.His507=)
c.1400A= (p.His467=)
2g.189562075G>ACA349986833SLC40A1c.1519C>T (p.His507Tyr)
c.1399C>T (p.His467Tyr)
2g.189562075G>CCA349986834SLC40A1c.1519C>G (p.His507Asp)
c.1399C>G (p.His467Asp)
2g.189562075G>TCA349986835SLC40A1c.1519C>A (p.His507Asn)
c.1399C>A (p.His467Asn)
 gnomAD v4
2g.189562076C>ACA430502568SLC40A1c.1518G>T (p.Leu506=)
c.1398G>T (p.Leu466=)
2g.189562076C=CA1315652842SLC40A1c.1518G= (p.Leu506=)
c.1398G= (p.Leu466=)
2g.189562076C>GCA430502570SLC40A1c.1518G>C (p.Leu506=)
c.1398G>C (p.Leu466=)
2g.189562076C>TCA430502569SLC40A1c.1518G>A (p.Leu506=)
c.1398G>A (p.Leu466=)
 dbSNP gnomAD v2 gnomAD v4
2g.189562077A>CCA349986838SLC40A1c.1517T>G (p.Leu506Arg)
c.1397T>G (p.Leu466Arg)
 gnomAD v4
2g.189562077A>GCA349986837SLC40A1c.1517T>C (p.Leu506Pro)
c.1397T>C (p.Leu466Pro)
2g.189562077A>TCA349986836SLC40A1c.1517T>A (p.Leu506Gln)
c.1397T>A (p.Leu466Gln)
2g.189562080_189562082delCA2662328394SLC40A1c.1515_1517del (p.Leu506del)
c.1395_1397del (p.Leu466del)
 gnomAD v4
2g.189562078G>ACA430502571SLC40A1c.1516C>T (p.Leu506=)
c.1396C>T (p.Leu466=)
2g.189562078G>CCA349986839SLC40A1c.1516C>G (p.Leu506Val)
c.1396C>G (p.Leu466Val)
2g.189562078G>TCA349986840SLC40A1c.1516C>A (p.Leu506Met)
c.1396C>A (p.Leu466Met)
2g.189562079A>CCA430502572SLC40A1c.1515T>G (p.Leu505=)
c.1395T>G (p.Leu465=)
2g.189562079A>GCA430502573SLC40A1c.1515T>C (p.Leu505=)
c.1395T>C (p.Leu465=)
2g.189562079A>TCA430502574SLC40A1c.1515T>A (p.Leu505=)
c.1395T>A (p.Leu465=)
2g.189562080A>CCA349986841SLC40A1c.1514T>G (p.Leu505Arg)
c.1394T>G (p.Leu465Arg)
2g.189562080A>GCA349986843SLC40A1c.1514T>C (p.Leu505Pro)
c.1394T>C (p.Leu465Pro)
2g.189562080A>TCA349986842SLC40A1c.1514T>A (p.Leu505His)
c.1394T>A (p.Leu465His)
2g.189562081G>ACA349986844SLC40A1c.1513C>T (p.Leu505Phe)
c.1393C>T (p.Leu465Phe)
2g.189562081G>CCA349986845SLC40A1c.1513C>G (p.Leu505Val)
c.1393C>G (p.Leu465Val)
 gnomAD v4
2g.189562081G>TCA349986846SLC40A1c.1513C>A (p.Leu505Ile)
c.1393C>A (p.Leu465Ile)
2g.189562082A>CCA349986847SLC40A1c.1512T>G (p.Asp504Glu)
c.1392T>G (p.Asp464Glu)
2g.189562082A>GCA430502579SLC40A1c.1512T>C (p.Asp504=)
c.1392T>C (p.Asp464=)
2g.189562082A>TCA349986848SLC40A1c.1512T>A (p.Asp504Glu)
c.1392T>A (p.Asp464Glu)
2g.189562083T>ACA349986851SLC40A1c.1511A>T (p.Asp504Val)
c.1391A>T (p.Asp464Val)
2g.189562083T>CCA349986850SLC40A1c.1511A>G (p.Asp504Gly)
c.1391A>G (p.Asp464Gly)
2g.189562083T>GCA349986849SLC40A1c.1511A>C (p.Asp504Ala)
c.1391A>C (p.Asp464Ala)
2g.189562084C>ACA349986852SLC40A1c.1510G>T (p.Asp504Tyr)
c.1390G>T (p.Asp464Tyr)
2g.189562084C>GCA349986853SLC40A1c.1510G>C (p.Asp504His)
c.1390G>C (p.Asp464His)
2g.189562084C>TCA349986854SLC40A1c.1510G>A (p.Asp504Asn)
c.1390G>A (p.Asp464Asn)
2g.189562085A>CCA430502586SLC40A1c.1509T>G (p.Leu503=)
c.1389T>G (p.Leu463=)
2g.189562085A>GCA430502582SLC40A1c.1509T>C (p.Leu503=)
c.1389T>C (p.Leu463=)
2g.189562085A>TCA430502584SLC40A1c.1509T>A (p.Leu503=)
c.1389T>A (p.Leu463=)
2g.189562086A>CCA349986855SLC40A1c.1508T>G (p.Leu503Arg)
c.1388T>G (p.Leu463Arg)
2g.189562086A>GCA349986856SLC40A1c.1508T>C (p.Leu503Pro)
c.1388T>C (p.Leu463Pro)
2g.189562086A>TCA349986857SLC40A1c.1508T>A (p.Leu503His)
c.1388T>A (p.Leu463His)
2g.189562087G>ACA349986858SLC40A1c.1507C>T (p.Leu503Phe)
c.1387C>T (p.Leu463Phe)
 gnomAD v4
2g.189562087G>CCA349986860SLC40A1c.1507C>G (p.Leu503Val)
c.1387C>G (p.Leu463Val)
 gnomAD v4
2g.189562087G>TCA349986859SLC40A1c.1507C>A (p.Leu503Ile)
c.1387C>A (p.Leu463Ile)
2g.189562088A=CA1315652844SLC40A1c.1506T= (p.Leu502=)
c.1386T= (p.Leu462=)
2g.189562088A>CCA430502590SLC40A1c.1506T>G (p.Leu502=)
c.1386T>G (p.Leu462=)
2g.189562088A>GCA430502591SLC40A1c.1506T>C (p.Leu502=)
c.1386T>C (p.Leu462=)
2g.189562088A>TCA430502592SLC40A1c.1506T>A (p.Leu502=)
c.1386T>A (p.Leu462=)
 dbSNP gnomAD v2 gnomAD v4
2g.189562089A>CCA349986861SLC40A1c.1505T>G (p.Leu502Arg)
c.1385T>G (p.Leu462Arg)
 gnomAD v4
2g.189562089A>GCA349986862SLC40A1c.1505T>C (p.Leu502Pro)
c.1385T>C (p.Leu462Pro)
2g.189562089A>TCA349986863SLC40A1c.1505T>A (p.Leu502His)
c.1385T>A (p.Leu462His)
2g.189562090G>ACA349986864SLC40A1c.1504C>T (p.Leu502Phe)
c.1384C>T (p.Leu462Phe)
 dbSNP
2g.189562090G>CCA349986865SLC40A1c.1504C>G (p.Leu502Val)
c.1384C>G (p.Leu462Val)
2g.189562090G=CA1315652848SLC40A1c.1504C= (p.Leu502=)
c.1384C= (p.Leu462=)
2g.189562090G>TCA349986866SLC40A1c.1504C>A (p.Leu502Ile)
c.1384C>A (p.Leu462Ile)
2g.189562091A=CA1315652851SLC40A1c.1503T= (p.Tyr501=)
c.1383T= (p.Tyr461=)
2g.189562091A>CCA349986867SLC40A1c.1503T>G (p.Tyr501Ter)
c.1383T>G (p.Tyr461Ter)
2g.189562091A>GCA430502595SLC40A1c.1503T>C (p.Tyr501=)
c.1383T>C (p.Tyr461=)
 dbSNP
2g.189562091A>TCA349986868SLC40A1c.1503T>A (p.Tyr501Ter)
c.1383T>A (p.Tyr461Ter)
2g.189562092T>ACA349986869SLC40A1c.1502A>T (p.Tyr501Phe)
c.1382A>T (p.Tyr461Phe)
2g.189562092T>CCA349986870SLC40A1c.1502A>G (p.Tyr501Cys)
c.1382A>G (p.Tyr461Cys)
 ClinVar dbSNP gnomAD v2
2g.189562092T>GCA349986871SLC40A1c.1502A>C (p.Tyr501Ser)
c.1382A>C (p.Tyr461Ser)
2g.189562092T=CA1315652854SLC40A1c.1502A= (p.Tyr501=)
c.1382A= (p.Tyr461=)
2g.189562093A>CCA349986872SLC40A1c.1501T>G (p.Tyr501Asp)
c.1381T>G (p.Tyr461Asp)
2g.189562093A>GCA349986874SLC40A1c.1501T>C (p.Tyr501His)
c.1381T>C (p.Tyr461His)
2g.189562093A>TCA349986873SLC40A1c.1501T>A (p.Tyr501Asn)
c.1381T>A (p.Tyr461Asn)
2g.189562094G>ACA430502599SLC40A1c.1500C>T (p.Asn500=)
c.1380C>T (p.Asn460=)
2g.189562094G>CCA349986875SLC40A1c.1500C>G (p.Asn500Lys)
c.1380C>G (p.Asn460Lys)
2g.189562094G>TCA349986876SLC40A1c.1500C>A (p.Asn500Lys)
c.1380C>A (p.Asn460Lys)
2g.189562095T>ACA62902759SLC40A1c.1499A>T (p.Asn500Ile)
c.1379A>T (p.Asn460Ile)
 dbSNP
2g.189562095T>CCA349986877SLC40A1c.1499A>G (p.Asn500Ser)
c.1379A>G (p.Asn460Ser)
2g.189562095T>GCA349986878SLC40A1c.1499A>C (p.Asn500Thr)
c.1379A>C (p.Asn460Thr)
2g.189562095T=CA1315652857SLC40A1c.1499A= (p.Asn500=)
c.1379A= (p.Asn460=)
2g.189562096T>ACA349986879SLC40A1c.1498A>T (p.Asn500Tyr)
c.1378A>T (p.Asn460Tyr)
2g.189562096T>CCA349986880SLC40A1c.1498A>G (p.Asn500Asp)
c.1378A>G (p.Asn460Asp)
2g.189562096T>GCA349986881SLC40A1c.1498A>C (p.Asn500His)
c.1378A>C (p.Asn460His)
2g.189562097C>ACA349986882SLC40A1c.1497G>T (p.Met499Ile)
c.1377G>T (p.Met459Ile)
2g.189562097C=CA1315652861SLC40A1c.1497G= (p.Met499=)
c.1377G= (p.Met459=)
2g.189562097C>GCA349986883SLC40A1c.1497G>C (p.Met499Ile)
c.1377G>C (p.Met459Ile)
 gnomAD v4
2g.189562097C>TCA62902760SLC40A1c.1497G>A (p.Met499Ile)
c.1377G>A (p.Met459Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.189562098A=CA1315652863SLC40A1c.1496T= (p.Met499=)
c.1376T= (p.Met459=)
2g.189562098A>CCA349986886SLC40A1c.1496T>G (p.Met499Arg)
c.1376T>G (p.Met459Arg)
2g.189562098A>GCA349986884SLC40A1c.1496T>C (p.Met499Thr)
c.1376T>C (p.Met459Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189562098A>TCA349986885SLC40A1c.1496T>A (p.Met499Lys)
c.1376T>A (p.Met459Lys)
2g.189562099T>ACA349986887SLC40A1c.1495A>T (p.Met499Leu)
c.1375A>T (p.Met459Leu)
2g.189562099T>CCA349986888SLC40A1c.1495A>G (p.Met499Val)
c.1375A>G (p.Met459Val)
2g.189562099T>GCA349986889SLC40A1c.1495A>C (p.Met499Leu)
c.1375A>C (p.Met459Leu)
2g.189562100G>ACA430502611SLC40A1c.1494C>T (p.Ser498=)
c.1374C>T (p.Ser458=)
 gnomAD v4
2g.189562100G>CCA430502612SLC40A1c.1494C>G (p.Ser498=)
c.1374C>G (p.Ser458=)
2g.189562100G=CA1315652865SLC40A1c.1494C= (p.Ser498=)
c.1374C= (p.Ser458=)
2g.189562100G>TCA430502613SLC40A1c.1494C>A (p.Ser498=)
c.1374C>A (p.Ser458=)
 dbSNP gnomAD v2 gnomAD v4
2g.189562101G>ACA349986890SLC40A1c.1493C>T (p.Ser498Phe)
c.1373C>T (p.Ser458Phe)
2g.189562101G>CCA349986891SLC40A1c.1493C>G (p.Ser498Cys)
c.1373C>G (p.Ser458Cys)
2g.189562101G=CA1315652868SLC40A1c.1493C= (p.Ser498=)
c.1373C= (p.Ser458=)
2g.189562101G>TCA349986892SLC40A1c.1493C>A (p.Ser498Tyr)
c.1373C>A (p.Ser458Tyr)
2g.189562101_189562102insTGGTAGAGAAGTCTTGATCTGTGATCTACA1315652870SLC40A1c.1492_1493insTAGATCACAGATCAAGACTTCTCTACCA (p.Ser498LeufsTer16)
c.1372_1373insTAGATCACAGATCAAGACTTCTCTACCA (p.Ser458LeufsTer16)
 dbSNP
2g.189562102A>CCA349986893SLC40A1c.1492T>G (p.Ser498Ala)
c.1372T>G (p.Ser458Ala)
2g.189562102A>GCA349986894SLC40A1c.1492T>C (p.Ser498Pro)
c.1372T>C (p.Ser458Pro)
2g.189562102A>TCA349986895SLC40A1c.1492T>A (p.Ser498Thr)
c.1372T>A (p.Ser458Thr)
2g.189562103G>ACA430502619SLC40A1c.1491C>T (p.Asn497=)
c.1371C>T (p.Asn457=)
2g.189562103G>CCA349986896SLC40A1c.1491C>G (p.Asn497Lys)
c.1371C>G (p.Asn457Lys)
2g.189562103G>TCA349986897SLC40A1c.1491C>A (p.Asn497Lys)
c.1371C>A (p.Asn457Lys)
2g.189562104T>ACA349986899SLC40A1c.1490A>T (p.Asn497Ile)
c.1370A>T (p.Asn457Ile)
2g.189562104T>CCA349986900SLC40A1c.1490A>G (p.Asn497Ser)
c.1370A>G (p.Asn457Ser)
2g.189562104T>GCA349986898SLC40A1c.1490A>C (p.Asn497Thr)
c.1370A>C (p.Asn457Thr)
2g.189562105T>ACA349986903SLC40A1c.1489A>T (p.Asn497Tyr)
c.1369A>T (p.Asn457Tyr)
2g.189562105T>CCA349986901SLC40A1c.1489A>G (p.Asn497Asp)
c.1369A>G (p.Asn457Asp)
2g.189562105T>GCA349986902SLC40A1c.1489A>C (p.Asn497His)
c.1369A>C (p.Asn457His)
2g.189562106C>ACA349986904SLC40A1c.1488G>T (p.Gln496His)
c.1368G>T (p.Gln456His)
2g.189562106C>GCA349986905SLC40A1c.1488G>C (p.Gln496His)
c.1368G>C (p.Gln456His)
2g.189562106C>TCA430502623SLC40A1c.1488G>A (p.Gln496=)
c.1368G>A (p.Gln456=)
2g.189562107T>ACA349986906SLC40A1c.1487A>T (p.Gln496Leu)
c.1367A>T (p.Gln456Leu)
2g.189562107T>CCA349986907SLC40A1c.1487A>G (p.Gln496Arg)
c.1367A>G (p.Gln456Arg)
2g.189562107T>GCA349986908SLC40A1c.1487A>C (p.Gln496Pro)
c.1367A>C (p.Gln456Pro)
2g.189562108G>ACA349986909SLC40A1c.1486C>T (p.Gln496Ter)
c.1366C>T (p.Gln456Ter)
 gnomAD v4
2g.189562108G>CCA349986910SLC40A1c.1486C>G (p.Gln496Glu)
c.1366C>G (p.Gln456Glu)
2g.189562108G>TCA349986911SLC40A1c.1486C>A (p.Gln496Lys)
c.1366C>A (p.Gln456Lys)
2g.189562109T>ACA430502627SLC40A1c.1485A>T (p.Val495=)
c.1365A>T (p.Val455=)
2g.189562109T>CCA430502628SLC40A1c.1485A>G (p.Val495=)
c.1365A>G (p.Val455=)
2g.189562109T>GCA430502629SLC40A1c.1485A>C (p.Val495=)
c.1365A>C (p.Val455=)
2g.189562110A>CCA349986912SLC40A1c.1484T>G (p.Val495Gly)
c.1364T>G (p.Val455Gly)
2g.189562110A>GCA349986913SLC40A1c.1484T>C (p.Val495Ala)
c.1364T>C (p.Val455Ala)
2g.189562110A>TCA349986914SLC40A1c.1484T>A (p.Val495Glu)
c.1364T>A (p.Val455Glu)
2g.189562111C>ACA349986916SLC40A1c.1483G>T (p.Val495Leu)
c.1363G>T (p.Val455Leu)
2g.189562111C=CA1315652875SLC40A1c.1483G= (p.Val495=)
c.1363G= (p.Val455=)
2g.189562111C>GCA349986915SLC40A1c.1483G>C (p.Val495Leu)
c.1363G>C (p.Val455Leu)
2g.189562111C>TCA2024050SLC40A1c.1483G>A (p.Val495Ile)
c.1363G>A (p.Val455Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189562112A=CA1315652878SLC40A1c.1482T= (p.Gly494=)
c.1362T= (p.Gly454=)
2g.189562112A>CCA430502632SLC40A1c.1482T>G (p.Gly494=)
c.1362T>G (p.Gly454=)
2g.189562112A>GCA2024051SLC40A1c.1482T>C (p.Gly494=)
c.1362T>C (p.Gly454=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189562112A>TCA430502633SLC40A1c.1482T>A (p.Gly494=)
c.1362T>A (p.Gly454=)
2g.189562113C>ACA349986917SLC40A1c.1481G>T (p.Gly494Val)
c.1361G>T (p.Gly454Val)
2g.189562113C=CA1315652881SLC40A1c.1481G= (p.Gly494=)
c.1361G= (p.Gly454=)
2g.189562113C>GCA349986918SLC40A1c.1481G>C (p.Gly494Ala)
c.1361G>C (p.Gly454Ala)
2g.189562113C>TCA349986919SLC40A1c.1481G>A (p.Gly494Asp)
c.1361G>A (p.Gly454Asp)
 ClinVar dbSNP gnomAD v4
2g.189562114C>ACA349986920SLC40A1c.1480G>T (p.Gly494Cys)
c.1360G>T (p.Gly454Cys)
2g.189562114C>GCA349986921SLC40A1c.1480G>C (p.Gly494Arg)
c.1360G>C (p.Gly454Arg)
2g.189562114C>TCA349986922SLC40A1c.1480G>A (p.Gly494Ser)
c.1360G>A (p.Gly454Ser)
2g.189562115A>CCA349986923SLC40A1c.1479T>G (p.Asn493Lys)
c.1359T>G (p.Asn453Lys)
2g.189562115A>GCA430502637SLC40A1c.1479T>C (p.Asn493=)
c.1359T>C (p.Asn453=)
 gnomAD v4
2g.189562115A>TCA349986924SLC40A1c.1479T>A (p.Asn493Lys)
c.1359T>A (p.Asn453Lys)
2g.189562116T>ACA349986925SLC40A1c.1478A>T (p.Asn493Ile)
c.1358A>T (p.Asn453Ile)
2g.189562116T>CCA349986926SLC40A1c.1478A>G (p.Asn493Ser)
c.1358A>G (p.Asn453Ser)
 gnomAD v4
2g.189562116T>GCA349986927SLC40A1c.1478A>C (p.Asn493Thr)
c.1358A>C (p.Asn453Thr)
2g.189562117T>ACA349986930SLC40A1c.1477A>T (p.Asn493Tyr)
c.1357A>T (p.Asn453Tyr)
2g.189562117T>CCA349986929SLC40A1c.1477A>G (p.Asn493Asp)
c.1357A>G (p.Asn453Asp)
2g.189562117T>GCA349986928SLC40A1c.1477A>C (p.Asn493His)
c.1357A>C (p.Asn453His)
2g.189562118T>ACA430502642SLC40A1c.1476A>T (p.Ile492=)
c.1356A>T (p.Ile452=)
2g.189562118T>CCA349986931SLC40A1c.1476A>G (p.Ile492Met)
c.1356A>G (p.Ile452Met)
2g.189562118T>GCA430502644SLC40A1c.1476A>C (p.Ile492=)
c.1356A>C (p.Ile452=)
2g.189562119A=CA1315652885SLC40A1c.1475T= (p.Ile492=)
c.1355T= (p.Ile452=)
2g.189562119A>CCA349986932SLC40A1c.1475T>G (p.Ile492Arg)
c.1355T>G (p.Ile452Arg)
2g.189562119A>GCA349986933SLC40A1c.1475T>C (p.Ile492Thr)
c.1355T>C (p.Ile452Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.189562119A>TCA349986934SLC40A1c.1475T>A (p.Ile492Lys)
c.1355T>A (p.Ile452Lys)
2g.189562120T>ACA349986935SLC40A1c.1474A>T (p.Ile492Leu)
c.1354A>T (p.Ile452Leu)
 gnomAD v4
2g.189562120T>CCA349986936SLC40A1c.1474A>G (p.Ile492Val)
c.1354A>G (p.Ile452Val)
2g.189562120T>GCA349986937SLC40A1c.1474A>C (p.Ile492Leu)
c.1354A>C (p.Ile452Leu)
 COSMIC
2g.189562121A>CCA349986938SLC40A1c.1473T>G (p.Ile491Met)
c.1353T>G (p.Ile451Met)
2g.189562121A>GCA430502649SLC40A1c.1473T>C (p.Ile491=)
c.1353T>C (p.Ile451=)
2g.189562121A>TCA430502650SLC40A1c.1473T>A (p.Ile491=)
c.1353T>A (p.Ile451=)
2g.189562122A>CCA349986939SLC40A1c.1472T>G (p.Ile491Ser)
c.1352T>G (p.Ile451Ser)
 gnomAD v4
2g.189562122A>GCA349986940SLC40A1c.1472T>C (p.Ile491Thr)
c.1352T>C (p.Ile451Thr)
2g.189562122A>TCA349986941SLC40A1c.1472T>A (p.Ile491Asn)
c.1352T>A (p.Ile451Asn)
2g.189562123T>ACA349986942SLC40A1c.1471A>T (p.Ile491Phe)
c.1351A>T (p.Ile451Phe)
2g.189562123T>CCA349986943SLC40A1c.1471A>G (p.Ile491Val)
c.1351A>G (p.Ile451Val)
 dbSNP gnomAD v2 gnomAD v4
2g.189562123T>GCA349986944SLC40A1c.1471A>C (p.Ile491Leu)
c.1351A>C (p.Ile451Leu)
2g.189562123T=CA1315652888SLC40A1c.1471A= (p.Ile491=)
c.1351A= (p.Ile451=)
2g.189562124G>ACA430502652SLC40A1c.1470C>T (p.Gly490=)
c.1350C>T (p.Gly450=)
2g.189562124G>CCA430502653SLC40A1c.1470C>G (p.Gly490=)
c.1350C>G (p.Gly450=)
2g.189562124G=CA1315652891SLC40A1c.1470C= (p.Gly490=)
c.1350C= (p.Gly450=)
2g.189562124G>TCA430502654SLC40A1c.1470C>A (p.Gly490=)
c.1350C>A (p.Gly450=)
 dbSNP
2g.189562125C>ACA349986945SLC40A1c.1469G>T (p.Gly490Val)
c.1349G>T (p.Gly450Val)
2g.189562125C=CA1315652896SLC40A1c.1469G= (p.Gly490=)
c.1349G= (p.Gly450=)
2g.189562125C>GCA349986946SLC40A1c.1469G>C (p.Gly490Ala)
c.1349G>C (p.Gly450Ala)
2g.189562125C>TCA16610657SLC40A1c.1469G>A (p.Gly490Asp)
c.1349G>A (p.Gly450Asp)
 ClinVar dbSNP COSMIC
2g.189562126C>ACA349986947SLC40A1c.1468G>T (p.Gly490Cys)
c.1348G>T (p.Gly450Cys)
2g.189562126C=CA1315652900SLC40A1c.1468G= (p.Gly490=)
c.1348G= (p.Gly450=)
2g.189562126C>GCA349986948SLC40A1c.1468G>C (p.Gly490Arg)
c.1348G>C (p.Gly450Arg)
2g.189562126C>TCA349986949SLC40A1c.1468G>A (p.Gly490Ser)
c.1348G>A (p.Gly450Ser)
 ClinVar dbSNP
2g.189562127T>ACA349986950SLC40A1c.1467A>T (p.Arg489Ser)
c.1347A>T (p.Arg449Ser)
2g.189562127T>CCA430502661SLC40A1c.1467A>G (p.Arg489=)
c.1347A>G (p.Arg449=)
 gnomAD v4
2g.189562127T>GCA349986951SLC40A1c.1467A>C (p.Arg489Ser)
c.1347A>C (p.Arg449Ser)
 dbSNP
2g.189562127T=CA1315652904SLC40A1c.1467A= (p.Arg489=)
c.1347A= (p.Arg449=)
2g.189562128C>ACA349986952SLC40A1c.1466G>T (p.Arg489Ile)
c.1346G>T (p.Arg449Ile)
2g.189562128C=CA1315652907SLC40A1c.1466G= (p.Arg489=)
c.1346G= (p.Arg449=)
2g.189562128C>GCA349986953SLC40A1c.1466G>C (p.Arg489Thr)
c.1346G>C (p.Arg449Thr)
2g.189562128C>TCA349986954SLC40A1c.1466G>A (p.Arg489Lys)
c.1346G>A (p.Arg449Lys)
 dbSNP
2g.189562129T>ACA349986955SLC40A1c.1465A>T (p.Arg489Ter)
c.1345A>T (p.Arg449Ter)
2g.189562129T>CCA349986956SLC40A1c.1465A>G (p.Arg489Gly)
c.1345A>G (p.Arg449Gly)
2g.189562129T>GCA430502663SLC40A1c.1465A>C (p.Arg489=)
c.1345A>C (p.Arg449=)
2g.189562130T>ACA349986957SLC40A1c.1464A>T (p.Glu488Asp)
c.1344A>T (p.Glu448Asp)
2g.189562130T>CCA430502665SLC40A1c.1464A>G (p.Glu488=)
c.1344A>G (p.Glu448=)
2g.189562130T>GCA349986958SLC40A1c.1464A>C (p.Glu488Asp)
c.1344A>C (p.Glu448Asp)
2g.189562131T>ACA349986961SLC40A1c.1463A>T (p.Glu488Val)
c.1343A>T (p.Glu448Val)
 dbSNP
2g.189562131T>CCA349986960SLC40A1c.1463A>G (p.Glu488Gly)
c.1343A>G (p.Glu448Gly)
2g.189562131T>GCA349986959SLC40A1c.1463A>C (p.Glu488Ala)
c.1343A>C (p.Glu448Ala)
2g.189562131T=CA1315652909SLC40A1c.1463A= (p.Glu488=)
c.1343A= (p.Glu448=)
2g.189562132C>ACA349986963SLC40A1c.1462G>T (p.Glu488Ter)
c.1342G>T (p.Glu448Ter)
2g.189562132C>GCA349986962SLC40A1c.1462G>C (p.Glu488Gln)
c.1342G>C (p.Glu448Gln)
2g.189562132C>TCA349986964SLC40A1c.1462G>A (p.Glu488Lys)
c.1342G>A (p.Glu448Lys)
2g.189562133A>CCA430502671SLC40A1c.1461T>G (p.Ser487=)
c.1341T>G (p.Ser447=)
2g.189562133A>GCA430502673SLC40A1c.1461T>C (p.Ser487=)
c.1341T>C (p.Ser447=)
 COSMIC
2g.189562133A>TCA430502672SLC40A1c.1461T>A (p.Ser487=)
c.1341T>A (p.Ser447=)

Number of alleles fetched