Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
2g.189562134G>ACA349986965SLC40A1c.1460C>T (p.Ser487Phe)
c.1340C>T (p.Ser447Phe)
2g.189562134G>CCA349986966SLC40A1c.1460C>G (p.Ser487Cys)
c.1340C>G (p.Ser447Cys)
2g.189562134G>TCA349986967SLC40A1c.1460C>A (p.Ser487Tyr)
c.1340C>A (p.Ser447Tyr)
2g.189562135A>CCA349986968SLC40A1c.1459T>G (p.Ser487Ala)
c.1339T>G (p.Ser447Ala)
2g.189562135A>GCA349986969SLC40A1c.1459T>C (p.Ser487Pro)
c.1339T>C (p.Ser447Pro)
2g.189562135A>TCA349986970SLC40A1c.1459T>A (p.Ser487Thr)
c.1339T>A (p.Ser447Thr)
2g.189562136T>ACA349986971SLC40A1c.1458A>T (p.Glu486Asp)
c.1338A>T (p.Glu446Asp)
2g.189562136T>CCA430502674SLC40A1c.1458A>G (p.Glu486=)
c.1338A>G (p.Glu446=)
2g.189562136T>GCA349986972SLC40A1c.1458A>C (p.Glu486Asp)
c.1338A>C (p.Glu446Asp)
2g.189562137T>ACA349986973SLC40A1c.1457A>T (p.Glu486Val)
c.1337A>T (p.Glu446Val)
2g.189562137T>CCA349986975SLC40A1c.1457A>G (p.Glu486Gly)
c.1337A>G (p.Glu446Gly)
2g.189562137T>GCA349986974SLC40A1c.1457A>C (p.Glu486Ala)
c.1337A>C (p.Glu446Ala)
2g.189562138C>ACA349986976SLC40A1c.1456G>T (p.Glu486Ter)
c.1336G>T (p.Glu446Ter)
 gnomAD v4
2g.189562138C=CA1315652911SLC40A1c.1456G= (p.Glu486=)
c.1336G= (p.Glu446=)
2g.189562138C>GCA349986977SLC40A1c.1456G>C (p.Glu486Gln)
c.1336G>C (p.Glu446Gln)
 dbSNP gnomAD v4
2g.189562138C>TCA349986978SLC40A1c.1456G>A (p.Glu486Lys)
c.1336G>A (p.Glu446Lys)
 gnomAD v4
2g.189562139A>CCA349986979SLC40A1c.1455T>G (p.Ile485Met)
c.1335T>G (p.Ile445Met)
2g.189562139A>GCA430502678SLC40A1c.1455T>C (p.Ile485=)
c.1335T>C (p.Ile445=)
2g.189562139A>TCA430502677SLC40A1c.1455T>A (p.Ile485=)
c.1335T>A (p.Ile445=)
2g.189562140A=CA1315652914SLC40A1c.1454T= (p.Ile485=)
c.1334T= (p.Ile445=)
2g.189562140A>CCA349986980SLC40A1c.1454T>G (p.Ile485Ser)
c.1334T>G (p.Ile445Ser)
2g.189562140A>GCA2024052SLC40A1c.1454T>C (p.Ile485Thr)
c.1334T>C (p.Ile445Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189562140A>TCA349986981SLC40A1c.1454T>A (p.Ile485Asn)
c.1334T>A (p.Ile445Asn)
2g.189562141T>ACA349986982SLC40A1c.1453A>T (p.Ile485Phe)
c.1333A>T (p.Ile445Phe)
2g.189562141T>CCA2024053SLC40A1c.1453A>G (p.Ile485Val)
c.1333A>G (p.Ile445Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189562141T>GCA349986983SLC40A1c.1453A>C (p.Ile485Leu)
c.1333A>C (p.Ile445Leu)
2g.189562141T=CA1315652916SLC40A1c.1453A= (p.Ile485=)
c.1333A= (p.Ile445=)
2g.189562142T>ACA430502683SLC40A1c.1452A>T (p.Val484=)
c.1332A>T (p.Val444=)
2g.189562142T>CCA430502684SLC40A1c.1452A>G (p.Val484=)
c.1332A>G (p.Val444=)
2g.189562142T>GCA430502685SLC40A1c.1452A>C (p.Val484=)
c.1332A>C (p.Val444=)
2g.189562143A=CA1315652919SLC40A1c.1451T= (p.Val484=)
c.1331T= (p.Val444=)
2g.189562143A>CCA349986984SLC40A1c.1451T>G (p.Val484Gly)
c.1331T>G (p.Val444Gly)
2g.189562143A>GCA349986985SLC40A1c.1451T>C (p.Val484Ala)
c.1331T>C (p.Val444Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.189562143A>TCA349986986SLC40A1c.1451T>A (p.Val484Glu)
c.1331T>A (p.Val444Glu)
2g.189562144C>ACA349986987SLC40A1c.1450G>T (p.Val484Leu)
c.1330G>T (p.Val444Leu)
2g.189562144C>GCA349986988SLC40A1c.1450G>C (p.Val484Leu)
c.1330G>C (p.Val444Leu)
 gnomAD v4
2g.189562144C>TCA349986989SLC40A1c.1450G>A (p.Val484Ile)
c.1330G>A (p.Val444Ile)
2g.189562145A>CCA349986990SLC40A1c.1449T>G (p.Asn483Lys)
c.1329T>G (p.Asn443Lys)
2g.189562145A>GCA430502688SLC40A1c.1449T>C (p.Asn483=)
c.1329T>C (p.Asn443=)
 gnomAD v4
2g.189562145A>TCA349986991SLC40A1c.1449T>A (p.Asn483Lys)
c.1329T>A (p.Asn443Lys)
2g.189562146T>ACA349986992SLC40A1c.1448A>T (p.Asn483Ile)
c.1328A>T (p.Asn443Ile)
2g.189562146T>CCA349986994SLC40A1c.1448A>G (p.Asn483Ser)
c.1328A>G (p.Asn443Ser)
2g.189562146T>GCA349986993SLC40A1c.1448A>C (p.Asn483Thr)
c.1328A>C (p.Asn443Thr)
2g.189562147T>ACA349986995SLC40A1c.1447A>T (p.Asn483Tyr)
c.1327A>T (p.Asn443Tyr)
2g.189562147T>CCA349986996SLC40A1c.1447A>G (p.Asn483Asp)
c.1327A>G (p.Asn443Asp)
2g.189562147T>GCA349986997SLC40A1c.1447A>C (p.Asn483His)
c.1327A>C (p.Asn443His)
 COSMIC
2g.189562148T>ACA349986998SLC40A1c.1446A>T (p.Glu482Asp)
c.1326A>T (p.Glu442Asp)
2g.189562148T>CCA430502693SLC40A1c.1446A>G (p.Glu482=)
c.1326A>G (p.Glu442=)
2g.189562148T>GCA349986999SLC40A1c.1446A>C (p.Glu482Asp)
c.1326A>C (p.Glu442Asp)
2g.189562149T>ACA349987000SLC40A1c.1445A>T (p.Glu482Val)
c.1325A>T (p.Glu442Val)
2g.189562149T>CCA349987001SLC40A1c.1445A>G (p.Glu482Gly)
c.1325A>G (p.Glu442Gly)
2g.189562149T>GCA349987002SLC40A1c.1445A>C (p.Glu482Ala)
c.1325A>C (p.Glu442Ala)
2g.189562150C>ACA349987003SLC40A1c.1444G>T (p.Glu482Ter)
c.1324G>T (p.Glu442Ter)
2g.189562150C=CA1315652921SLC40A1c.1444G= (p.Glu482=)
c.1324G= (p.Glu442=)
2g.189562150C>GCA349987004SLC40A1c.1444G>C (p.Glu482Gln)
c.1324G>C (p.Glu442Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.189562150C>TCA349987005SLC40A1c.1444G>A (p.Glu482Lys)
c.1324G>A (p.Glu442Lys)
2g.189562151T>ACA349987006SLC40A1c.1443A>T (p.Gln481His)
c.1323A>T (p.Gln441His)
2g.189562151T>CCA430502700SLC40A1c.1443A>G (p.Gln481=)
c.1323A>G (p.Gln441=)
2g.189562151T>GCA349987007SLC40A1c.1443A>C (p.Gln481His)
c.1323A>C (p.Gln441His)
2g.189562152T>ACA349987008SLC40A1c.1442A>T (p.Gln481Leu)
c.1322A>T (p.Gln441Leu)
2g.189562152T>CCA349987010SLC40A1c.1442A>G (p.Gln481Arg)
c.1322A>G (p.Gln441Arg)
2g.189562152T>GCA349987009SLC40A1c.1442A>C (p.Gln481Pro)
c.1322A>C (p.Gln441Pro)
2g.189562153G>ACA349987011SLC40A1c.1441C>T (p.Gln481Ter)
c.1321C>T (p.Gln441Ter)
2g.189562153G>CCA349987012SLC40A1c.1441C>G (p.Gln481Glu)
c.1321C>G (p.Gln441Glu)
2g.189562153G>TCA349987013SLC40A1c.1441C>A (p.Gln481Lys)
c.1321C>A (p.Gln441Lys)
2g.189562154C>ACA430502704SLC40A1c.1440G>T (p.Leu480=)
c.1320G>T (p.Leu440=)
2g.189562154C>GCA430502707SLC40A1c.1440G>C (p.Leu480=)
c.1320G>C (p.Leu440=)
2g.189562154C>TCA430502706SLC40A1c.1440G>A (p.Leu480=)
c.1320G>A (p.Leu440=)
 gnomAD v4
2g.189562155A>CCA349987014SLC40A1c.1439T>G (p.Leu480Arg)
c.1319T>G (p.Leu440Arg)
 COSMIC
2g.189562155A>GCA349987015SLC40A1c.1439T>C (p.Leu480Pro)
c.1319T>C (p.Leu440Pro)
2g.189562155A>TCA349987016SLC40A1c.1439T>A (p.Leu480Gln)
c.1319T>A (p.Leu440Gln)
2g.189562156G>ACA430502710SLC40A1c.1438C>T (p.Leu480=)
c.1318C>T (p.Leu440=)
2g.189562156G>CCA349987017SLC40A1c.1438C>G (p.Leu480Val)
c.1318C>G (p.Leu440Val)
2g.189562156G>TCA349987018SLC40A1c.1438C>A (p.Leu480Met)
c.1318C>A (p.Leu440Met)
2g.189562157C>ACA349987019SLC40A1c.1437G>T (p.Leu479Phe)
c.1317G>T (p.Leu439Phe)
2g.189562157C=CA1315652925SLC40A1c.1437G= (p.Leu479=)
c.1317G= (p.Leu439=)
2g.189562157C>GCA349987020SLC40A1c.1437G>C (p.Leu479Phe)
c.1317G>C (p.Leu439Phe)
2g.189562157C>TCA430502715SLC40A1c.1437G>A (p.Leu479=)
c.1317G>A (p.Leu439=)
 dbSNP gnomAD v2 gnomAD v4
2g.189562158A>CCA349987022SLC40A1c.1436T>G (p.Leu479Trp)
c.1316T>G (p.Leu439Trp)
2g.189562158A>GCA349987023SLC40A1c.1436T>C (p.Leu479Ser)
c.1316T>C (p.Leu439Ser)
 gnomAD v4
2g.189562158A>TCA349987021SLC40A1c.1436T>A (p.Leu479Ter)
c.1316T>A (p.Leu439Ter)
2g.189562159A>CCA349987024SLC40A1c.1435T>G (p.Leu479Val)
c.1315T>G (p.Leu439Val)
2g.189562159A>GCA430502719SLC40A1c.1435T>C (p.Leu479=)
c.1315T>C (p.Leu439=)
2g.189562159A>TCA349987025SLC40A1c.1435T>A (p.Leu479Met)
c.1315T>A (p.Leu439Met)
2g.189562160C>ACA349987026SLC40A1c.1434G>T (p.Gln478His)
c.1314G>T (p.Gln438His)
2g.189562160C>GCA349987027SLC40A1c.1434G>C (p.Gln478His)
c.1314G>C (p.Gln438His)
2g.189562160C>TCA430502721SLC40A1c.1434G>A (p.Gln478=)
c.1314G>A (p.Gln438=)
2g.189562161T>ACA349987028SLC40A1c.1433A>T (p.Gln478Leu)
c.1313A>T (p.Gln438Leu)
2g.189562161T>CCA349987029SLC40A1c.1433A>G (p.Gln478Arg)
c.1313A>G (p.Gln438Arg)
2g.189562161T>GCA349987030SLC40A1c.1433A>C (p.Gln478Pro)
c.1313A>C (p.Gln438Pro)
2g.189562162G>ACA349987031SLC40A1c.1432C>T (p.Gln478Ter)
c.1312C>T (p.Gln438Ter)
2g.189562162G>CCA349987032SLC40A1c.1432C>G (p.Gln478Glu)
c.1312C>G (p.Gln438Glu)
2g.189562162G>TCA349987033SLC40A1c.1432C>A (p.Gln478Lys)
c.1312C>A (p.Gln438Lys)
2g.189562163T>ACA430502724SLC40A1c.1431A>T (p.Thr477=)
c.1311A>T (p.Thr437=)
2g.189562163T>CCA430502725SLC40A1c.1431A>G (p.Thr477=)
c.1311A>G (p.Thr437=)
 COSMIC
2g.189562163T>GCA430502726SLC40A1c.1431A>C (p.Thr477=)
c.1311A>C (p.Thr437=)
2g.189562164G>ACA349987034SLC40A1c.1430C>T (p.Thr477Ile)
c.1310C>T (p.Thr437Ile)
2g.189562164G>CCA349987035SLC40A1c.1430C>G (p.Thr477Arg)
c.1310C>G (p.Thr437Arg)
2g.189562164G>TCA349987036SLC40A1c.1430C>A (p.Thr477Lys)
c.1310C>A (p.Thr437Lys)
2g.189562165T>ACA349987039SLC40A1c.1429A>T (p.Thr477Ser)
c.1309A>T (p.Thr437Ser)
2g.189562165T>CCA349987038SLC40A1c.1429A>G (p.Thr477Ala)
c.1309A>G (p.Thr437Ala)
2g.189562165T>GCA349987037SLC40A1c.1429A>C (p.Thr477Pro)
c.1309A>C (p.Thr437Pro)
2g.189562165dupCA2662328395SLC40A1c.1429dup (p.Thr477AsnfsTer10)
c.1309dup (p.Thr437AsnfsTer10)
 gnomAD v4
2g.189562166C>ACA430502730SLC40A1c.1428G>T (p.Val476=)
c.1308G>T (p.Val436=)
2g.189562166C>GCA430502731SLC40A1c.1428G>C (p.Val476=)
c.1308G>C (p.Val436=)
2g.189562166C>TCA430502732SLC40A1c.1428G>A (p.Val476=)
c.1308G>A (p.Val436=)
2g.189562167A>CCA349987040SLC40A1c.1427T>G (p.Val476Gly)
c.1307T>G (p.Val436Gly)
2g.189562167A>GCA349987041SLC40A1c.1427T>C (p.Val476Ala)
c.1307T>C (p.Val436Ala)
2g.189562167A>TCA349987042SLC40A1c.1427T>A (p.Val476Glu)
c.1307T>A (p.Val436Glu)
2g.189562168C>ACA349987043SLC40A1c.1426G>T (p.Val476Leu)
c.1306G>T (p.Val436Leu)
2g.189562168C>GCA349987044SLC40A1c.1426G>C (p.Val476Leu)
c.1306G>C (p.Val436Leu)
2g.189562168C>TCA349987045SLC40A1c.1426G>A (p.Val476Met)
c.1306G>A (p.Val436Met)
 gnomAD v4
2g.189562169A=CA1315652927SLC40A1c.1425T= (p.Thr475=)
c.1305T= (p.Thr435=)
2g.189562169A>CCA430502736SLC40A1c.1425T>G (p.Thr475=)
c.1305T>G (p.Thr435=)
 dbSNP
2g.189562169A>GCA430502737SLC40A1c.1425T>C (p.Thr475=)
c.1305T>C (p.Thr435=)
 ClinVar
2g.189562169A>TCA430502738SLC40A1c.1425T>A (p.Thr475=)
c.1305T>A (p.Thr435=)
2g.189562170G>ACA349987046SLC40A1c.1424C>T (p.Thr475Ile)
c.1304C>T (p.Thr435Ile)
2g.189562170G>CCA349987047SLC40A1c.1424C>G (p.Thr475Ser)
c.1304C>G (p.Thr435Ser)
2g.189562170G>TCA349987048SLC40A1c.1424C>A (p.Thr475Asn)
c.1304C>A (p.Thr435Asn)
2g.189562171T>ACA349987049SLC40A1c.1423A>T (p.Thr475Ser)
c.1303A>T (p.Thr435Ser)
2g.189562171T>CCA349987050SLC40A1c.1423A>G (p.Thr475Ala)
c.1303A>G (p.Thr435Ala)
 gnomAD v4
2g.189562171T>GCA349987051SLC40A1c.1423A>C (p.Thr475Pro)
c.1303A>C (p.Thr435Pro)
2g.189562172T>ACA349987052SLC40A1c.1422A>T (p.Leu474Phe)
c.1302A>T (p.Leu434Phe)
2g.189562172T>CCA430502747SLC40A1c.1422A>G (p.Leu474=)
c.1302A>G (p.Leu434=)
 dbSNP
2g.189562172T>GCA349987053SLC40A1c.1422A>C (p.Leu474Phe)
c.1302A>C (p.Leu434Phe)
2g.189562172T=CA1315652929SLC40A1c.1422A= (p.Leu474=)
c.1302A= (p.Leu434=)
2g.189562173A>CCA349987055SLC40A1c.1421T>G (p.Leu474Ter)
c.1301T>G (p.Leu434Ter)
2g.189562173A>GCA349987056SLC40A1c.1421T>C (p.Leu474Ser)
c.1301T>C (p.Leu434Ser)
2g.189562173A>TCA349987054SLC40A1c.1421T>A (p.Leu474Ter)
c.1301T>A (p.Leu434Ter)
2g.189562175dupCA2662328396SLC40A1c.1421dup (p.Leu474PhefsTer13)
c.1301dup (p.Leu434PhefsTer13)
 gnomAD v4
2g.189562174A>CCA349987057SLC40A1c.1420T>G (p.Leu474Val)
c.1300T>G (p.Leu434Val)
2g.189562174A>GCA430502755SLC40A1c.1420T>C (p.Leu474=)
c.1300T>C (p.Leu434=)
2g.189562174A>TCA349987058SLC40A1c.1420T>A (p.Leu474Ile)
c.1300T>A (p.Leu434Ile)
 gnomAD v4
2g.189562175A>CCA349987059SLC40A1c.1419T>G (p.Asp473Glu)
c.1299T>G (p.Asp433Glu)
2g.189562175A>GCA430502760SLC40A1c.1419T>C (p.Asp473=)
c.1299T>C (p.Asp433=)
2g.189562175A>TCA349987060SLC40A1c.1419T>A (p.Asp473Glu)
c.1299T>A (p.Asp433Glu)
2g.189562176T>ACA349987061SLC40A1c.1418A>T (p.Asp473Val)
c.1298A>T (p.Asp433Val)
2g.189562176T>CCA349987062SLC40A1c.1418A>G (p.Asp473Gly)
c.1298A>G (p.Asp433Gly)
2g.189562176T>GCA349987063SLC40A1c.1418A>C (p.Asp473Ala)
c.1298A>C (p.Asp433Ala)
2g.189562177C>ACA349987064SLC40A1c.1417G>T (p.Asp473Tyr)
c.1297G>T (p.Asp433Tyr)
 gnomAD v4
2g.189562177C>GCA349987065SLC40A1c.1417G>C (p.Asp473His)
c.1297G>C (p.Asp433His)
2g.189562177C>TCA349987066SLC40A1c.1417G>A (p.Asp473Asn)
c.1297G>A (p.Asp433Asn)
2g.189562178A>CCA349987067SLC40A1c.1416T>G (p.Phe472Leu)
c.1296T>G (p.Phe432Leu)
2g.189562178A>GCA430502764SLC40A1c.1416T>C (p.Phe472=)
c.1296T>C (p.Phe432=)
2g.189562178A>TCA349987068SLC40A1c.1416T>A (p.Phe472Leu)
c.1296T>A (p.Phe432Leu)
 gnomAD v4
2g.189562179A>CCA349987070SLC40A1c.1415T>G (p.Phe472Cys)
c.1295T>G (p.Phe432Cys)
2g.189562179A>GCA349987071SLC40A1c.1415T>C (p.Phe472Ser)
c.1295T>C (p.Phe432Ser)
2g.189562179A>TCA349987069SLC40A1c.1415T>A (p.Phe472Tyr)
c.1295T>A (p.Phe432Tyr)
2g.189562180A>CCA349987072SLC40A1c.1414T>G (p.Phe472Val)
c.1294T>G (p.Phe432Val)
2g.189562180A>GCA349987073SLC40A1c.1414T>C (p.Phe472Leu)
c.1294T>C (p.Phe432Leu)
2g.189562180A>TCA349987074SLC40A1c.1414T>A (p.Phe472Ile)
c.1294T>A (p.Phe432Ile)
2g.189562181G>ACA2024055SLC40A1c.1413C>T (p.Ser471=)
c.1293C>T (p.Ser431=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189562181G>CCA2024054SLC40A1c.1413C>G (p.Ser471=)
c.1293C>G (p.Ser431=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189562181G=CA1315652938SLC40A1c.1413C= (p.Ser471=)
c.1293C= (p.Ser431=)
2g.189562181G>TCA430502771SLC40A1c.1413C>A (p.Ser471=)
c.1293C>A (p.Ser431=)
 gnomAD v4
2g.189562182G>ACA349987077SLC40A1c.1412C>T (p.Ser471Phe)
c.1292C>T (p.Ser431Phe)
2g.189562182G>CCA349987075SLC40A1c.1412C>G (p.Ser471Cys)
c.1292C>G (p.Ser431Cys)
2g.189562182G>TCA349987076SLC40A1c.1412C>A (p.Ser471Tyr)
c.1292C>A (p.Ser431Tyr)
 gnomAD v4
2g.189562183A>CCA349987078SLC40A1c.1411T>G (p.Ser471Ala)
c.1291T>G (p.Ser431Ala)
2g.189562183A>GCA349987079SLC40A1c.1411T>C (p.Ser471Pro)
c.1291T>C (p.Ser431Pro)
2g.189562183A>TCA349987080SLC40A1c.1411T>A (p.Ser471Thr)
c.1291T>A (p.Ser431Thr)
2g.189562184C>ACA349987081SLC40A1c.1410G>T (p.Trp470Cys)
c.1290G>T (p.Trp430Cys)
2g.189562184C>GCA349987082SLC40A1c.1410G>C (p.Trp470Cys)
c.1290G>C (p.Trp430Cys)
2g.189562184C>TCA349987083SLC40A1c.1410G>A (p.Trp470Ter)
c.1290G>A (p.Trp430Ter)
2g.189562185C>ACA349987085SLC40A1c.1409G>T (p.Trp470Leu)
c.1289G>T (p.Trp430Leu)
2g.189562185C>GCA349987086SLC40A1c.1409G>C (p.Trp470Ser)
c.1289G>C (p.Trp430Ser)
2g.189562185C>TCA349987084SLC40A1c.1409G>A (p.Trp470Ter)
c.1289G>A (p.Trp430Ter)
2g.189562186A>CCA349987087SLC40A1c.1408T>G (p.Trp470Gly)
c.1288T>G (p.Trp430Gly)
2g.189562186A>GCA349987089SLC40A1c.1408T>C (p.Trp470Arg)
c.1288T>C (p.Trp430Arg)
2g.189562186A>TCA349987088SLC40A1c.1408T>A (p.Trp470Arg)
c.1288T>A (p.Trp430Arg)
2g.189562187A=CA1315652943SLC40A1c.1407T= (p.Leu469=)
c.1287T= (p.Leu429=)
2g.189562187A>CCA430502777SLC40A1c.1407T>G (p.Leu469=)
c.1287T>G (p.Leu429=)
 dbSNP gnomAD v2
2g.189562187A>GCA430502778SLC40A1c.1407T>C (p.Leu469=)
c.1287T>C (p.Leu429=)
2g.189562187A>TCA430502779SLC40A1c.1407T>A (p.Leu469=)
c.1287T>A (p.Leu429=)
2g.189562188A>CCA349987090SLC40A1c.1406T>G (p.Leu469Arg)
c.1286T>G (p.Leu429Arg)
2g.189562188A>GCA349987092SLC40A1c.1406T>C (p.Leu469Pro)
c.1286T>C (p.Leu429Pro)
2g.189562188A>TCA349987091SLC40A1c.1406T>A (p.Leu469His)
c.1286T>A (p.Leu429His)
 gnomAD v4
2g.189562189G>ACA349987093SLC40A1c.1405C>T (p.Leu469Phe)
c.1285C>T (p.Leu429Phe)
2g.189562189G>CCA349987094SLC40A1c.1405C>G (p.Leu469Val)
c.1285C>G (p.Leu429Val)
2g.189562189G>TCA349987095SLC40A1c.1405C>A (p.Leu469Ile)
c.1285C>A (p.Leu429Ile)
 gnomAD v4
2g.189562190A>CCA430502784SLC40A1c.1404T>G (p.Gly468=)
c.1284T>G (p.Gly428=)
2g.189562190A>GCA430502785SLC40A1c.1404T>C (p.Gly468=)
c.1284T>C (p.Gly428=)
2g.189562190A>TCA430502786SLC40A1c.1404T>A (p.Gly468=)
c.1284T>A (p.Gly428=)
 gnomAD v4
2g.189562191C>ACA349987096SLC40A1c.1403G>T (p.Gly468Val)
c.1283G>T (p.Gly428Val)
2g.189562191C>GCA349987097SLC40A1c.1403G>C (p.Gly468Ala)
c.1283G>C (p.Gly428Ala)
2g.189562191C>TCA349987098SLC40A1c.1403G>A (p.Gly468Asp)
c.1283G>A (p.Gly428Asp)
2g.189562192C>ACA349987099SLC40A1c.1403-1G>T (n.1403-1G>T)
c.1283-1G>T (n.1283-1G>T)
 gnomAD v4
2g.189562192C>GCA349987100SLC40A1c.1403-1G>C (n.1403-1G>C)
c.1283-1G>C (n.1283-1G>C)
2g.189562192C>TCA349987101SLC40A1c.1403-1G>A (n.1403-1G>A)
c.1283-1G>A (n.1283-1G>A)
 gnomAD v3 gnomAD v4
2g.189562193T>ACA349987102SLC40A1c.1403-2A>T (n.1403-2A>T)
c.1283-2A>T (n.1283-2A>T)
2g.189562193T>CCA349987103SLC40A1c.1403-2A>G (n.1403-2A>G)
c.1283-2A>G (n.1283-2A>G)
2g.189562193T>GCA349987104SLC40A1c.1403-2A>C (n.1403-2A>C)
c.1283-2A>C (n.1283-2A>C)
 dbSNP
2g.189562194A=CA1315652945SLC40A1c.1403-3T= (n.1403-3T=)
c.1283-3T= (n.1283-3T=)
2g.189562194A>GCA62902761SLC40A1c.1403-3T>C (n.1403-3T>C)
c.1283-3T>C (n.1283-3T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189562195delCA2662328397SLC40A1c.1403-4del (n.1403-4del)
c.1283-4del (n.1283-4del)
 gnomAD v4
2g.189562195T>CCA538917959SLC40A1c.1403-4A>G (n.1403-4A>G)
c.1283-4A>G (n.1283-4A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189562195T=CA1315652947SLC40A1c.1403-4A= (n.1403-4A=)
c.1283-4A= (n.1283-4A=)
2g.189562195_189562196insTCTAGCAGCAATGACGCCTGCAAACAGCAGACTGCA2701180492SLC40A1c.1403-5_1403-4insCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA (n.1403-5_1403-4insCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA)
c.1283-5_1283-4insCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA (n.1283-5_1283-4insCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA)
 dbSNP
2g.189562195_189562196insTCTAGCAGCAATGACGCCTGCAAACAGCAGACTGACCA2701180467SLC40A1c.1403-5_1403-4insGTCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA (n.1403-5_1403-4insGTCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA)
c.1283-5_1283-4insGTCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA (n.1283-5_1283-4insGTCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA)
 dbSNP
2g.189562196A>CCA2662328398SLC40A1c.1403-5T>G (n.1403-5T>G)
c.1283-5T>G (n.1283-5T>G)
 gnomAD v4
2g.189562197A>CCA2662328399SLC40A1c.1403-6T>G (n.1403-6T>G)
c.1283-6T>G (n.1283-6T>G)
 gnomAD v4
2g.189562198T>ACA2577188059SLC40A1c.1403-7A>T (n.1403-7A>T)
c.1283-7A>T (n.1283-7A>T)
2g.189562198T>CCA538917960SLC40A1c.1403-7A>G (n.1403-7A>G)
c.1283-7A>G (n.1283-7A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189562198T=CA1315652948SLC40A1c.1403-7A= (n.1403-7A=)
c.1283-7A= (n.1283-7A=)
2g.189562202delCA2662328400SLC40A1c.1403-8del (n.1403-8del)
c.1283-8del (n.1283-8del)
 gnomAD v4
2g.189562202A>GCA2662328401SLC40A1c.1403-11T>C (n.1403-11T>C)
c.1283-11T>C (n.1283-11T>C)
 gnomAD v4
2g.189562203T>CCA2662328402SLC40A1c.1403-12A>G (n.1403-12A>G)
c.1283-12A>G (n.1283-12A>G)
 gnomAD v4
2g.189562203_189562204delinsTACA1315652951SLC40A1c.1403-13_1403-12delinsTA (n.1403-13_1403-12delinsTA)
c.1283-13_1283-12delinsTA (n.1283-13_1283-12delinsTA)
2g.189562204delCA538917961SLC40A1c.1403-13del (n.1403-13del)
c.1283-13del (n.1283-13del)
 dbSNP gnomAD v2 gnomAD v4
2g.189562204A=CA1315652953SLC40A1c.1403-13T= (n.1403-13T=)
c.1283-13T= (n.1283-13T=)
2g.189562204A>TCA538917962SLC40A1c.1403-13T>A (n.1403-13T>A)
c.1283-13T>A (n.1283-13T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189562211dupCA2024056SLC40A1c.1403-14dup (n.1403-14dup)
c.1283-14dup (n.1283-14dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189562211delCA2577188060SLC40A1c.1403-14del (n.1403-14del)
c.1283-14del (n.1283-14del)
 gnomAD v4
2g.189562206T>ACA1315652958SLC40A1c.1403-15A>T (n.1403-15A>T)
c.1283-15A>T (n.1283-15A>T)
 dbSNP gnomAD v4
2g.189562206T=CA1315652956SLC40A1c.1403-15A= (n.1403-15A=)
c.1283-15A= (n.1283-15A=)
2g.189562207T>CCA1315652962SLC40A1c.1403-16A>G (n.1403-16A>G)
c.1283-16A>G (n.1283-16A>G)
 dbSNP gnomAD v4
2g.189562207T=CA1315652960SLC40A1c.1403-16A= (n.1403-16A=)
c.1283-16A= (n.1283-16A=)
2g.189562209T>ACA2577188061SLC40A1c.1403-18A>T (n.1403-18A>T)
c.1283-18A>T (n.1283-18A>T)
2g.189562209T>CCA2662328403SLC40A1c.1403-18A>G (n.1403-18A>G)
c.1283-18A>G (n.1283-18A>G)
 gnomAD v4
2g.189562213A>TCA2577188062SLC40A1c.1403-22T>A (n.1403-22T>A)
c.1283-22T>A (n.1283-22T>A)
2g.189562214A>GCA2662328404SLC40A1c.1403-23T>C (n.1403-23T>C)
c.1283-23T>C (n.1283-23T>C)
 gnomAD v4
2g.189562215G>ACA538917964SLC40A1c.1403-24C>T (n.1403-24C>T)
c.1283-24C>T (n.1283-24C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189562215G=CA1315652963SLC40A1c.1403-24C= (n.1403-24C=)
c.1283-24C= (n.1283-24C=)
2g.189562215G>TCA538917963SLC40A1c.1403-24C>A (n.1403-24C>A)
c.1283-24C>A (n.1283-24C>A)
 dbSNP gnomAD v2
2g.189562216A=CA1315652966SLC40A1c.1403-25T= (n.1403-25T=)
c.1283-25T= (n.1283-25T=)
2g.189562216A>GCA538917965SLC40A1c.1403-25T>C (n.1403-25T>C)
c.1283-25T>C (n.1283-25T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189562218delCA2662328405SLC40A1c.1403-26del (n.1403-26del)
c.1283-26del (n.1283-26del)
 gnomAD v4
2g.189562218T>CCA2024057SLC40A1c.1403-27A>G (n.1403-27A>G)
c.1283-27A>G (n.1283-27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189562218T=CA1315652968SLC40A1c.1403-27A= (n.1403-27A=)
c.1283-27A= (n.1283-27A=)
2g.189562219A=CA1315652971SLC40A1c.1403-28T= (n.1403-28T=)
c.1283-28T= (n.1283-28T=)
2g.189562219A>GCA1315652973SLC40A1c.1403-28T>C (n.1403-28T>C)
c.1283-28T>C (n.1283-28T>C)
 dbSNP gnomAD v4
2g.189562219_189562224delinsAGATTTCA1315652970SLC40A1c.1403-33_1403-28delinsAAATCT (n.1403-33_1403-28delinsAAATCT)
c.1283-33_1283-28delinsAAATCT (n.1283-33_1283-28delinsAAATCT)
2g.189562220G>CCA1040449654SLC40A1c.1403-29C>G (n.1403-29C>G)
c.1283-29C>G (n.1283-29C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189562220G=CA1315652977SLC40A1c.1403-29C= (n.1403-29C=)
c.1283-29C= (n.1283-29C=)
2g.189562220G>TCA2662328406SLC40A1c.1403-29C>A (n.1403-29C>A)
c.1283-29C>A (n.1283-29C>A)
 gnomAD v4
2g.189562220_189562224delCA2024058SLC40A1c.1403-33_1403-29del (n.1403-33_1403-29del)
c.1283-33_1283-29del (n.1283-33_1283-29del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189562222T>CCA538917966SLC40A1c.1403-31A>G (n.1403-31A>G)
c.1283-31A>G (n.1283-31A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189562222T=CA1315652979SLC40A1c.1403-31A= (n.1403-31A=)
c.1283-31A= (n.1283-31A=)
2g.189562224_189562225delCA2662328407SLC40A1c.1403-32_1403-31del (n.1403-32_1403-31del)
c.1283-32_1283-31del (n.1283-32_1283-31del)
 gnomAD v4
2g.189562224T>ACA1315652982SLC40A1c.1403-33A>T (n.1403-33A>T)
c.1283-33A>T (n.1283-33A>T)
 dbSNP
2g.189562224T=CA1315652981SLC40A1c.1403-33A= (n.1403-33A=)
c.1283-33A= (n.1283-33A=)
2g.189562225T>CCA62902762SLC40A1c.1403-34A>G (n.1403-34A>G)
c.1283-34A>G (n.1283-34A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189562225T=CA1315652984SLC40A1c.1403-34A= (n.1403-34A=)
c.1283-34A= (n.1283-34A=)
2g.189562226A>TCA2662328408SLC40A1c.1403-35T>A (n.1403-35T>A)
c.1283-35T>A (n.1283-35T>A)
 gnomAD v4
2g.189562228T>ACA2662328410SLC40A1c.1403-37A>T (n.1403-37A>T)
c.1283-37A>T (n.1283-37A>T)
 gnomAD v4
2g.189562228T>CCA2024059SLC40A1c.1403-37A>G (n.1403-37A>G)
c.1283-37A>G (n.1283-37A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189562228T=CA1315652988SLC40A1c.1403-37A= (n.1403-37A=)
c.1283-37A= (n.1283-37A=)
2g.189562230delCA2662328409SLC40A1c.1403-37del (n.1403-37del)
c.1283-37del (n.1283-37del)
 gnomAD v4
2g.189562229T>ACA2662328411SLC40A1c.1403-38A>T (n.1403-38A>T)
c.1283-38A>T (n.1283-38A>T)
 gnomAD v4
2g.189562229T>CCA2662328412SLC40A1c.1403-38A>G (n.1403-38A>G)
c.1283-38A>G (n.1283-38A>G)
 gnomAD v4
2g.189562230T>CCA2024060SLC40A1c.1403-39A>G (n.1403-39A>G)
c.1283-39A>G (n.1283-39A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189562230T=CA1315652990SLC40A1c.1403-39A= (n.1403-39A=)
c.1283-39A= (n.1283-39A=)
2g.189562234_189562241delCA2662328413SLC40A1c.1403-46_1403-39del (n.1403-46_1403-39del)
c.1283-46_1283-39del (n.1283-46_1283-39del)
 gnomAD v4
2g.189562232C>TCA2662328414SLC40A1c.1403-41G>A (n.1403-41G>A)
c.1283-41G>A (n.1283-41G>A)
 gnomAD v4

Number of alleles fetched