Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189562133A>C | CA430502671 | SLC40A1 | c.1461T>G (p.Ser487=) c.1341T>G (p.Ser447=) | |
2 | g.189562133A>G | CA430502673 | SLC40A1 | c.1461T>C (p.Ser487=) c.1341T>C (p.Ser447=) | COSMIC |
2 | g.189562133A>T | CA430502672 | SLC40A1 | c.1461T>A (p.Ser487=) c.1341T>A (p.Ser447=) | |
2 | g.189562134G>A | CA349986965 | SLC40A1 | c.1460C>T (p.Ser487Phe) c.1340C>T (p.Ser447Phe) | |
2 | g.189562134G>C | CA349986966 | SLC40A1 | c.1460C>G (p.Ser487Cys) c.1340C>G (p.Ser447Cys) | |
2 | g.189562134G>T | CA349986967 | SLC40A1 | c.1460C>A (p.Ser487Tyr) c.1340C>A (p.Ser447Tyr) | |
2 | g.189562135A>C | CA349986968 | SLC40A1 | c.1459T>G (p.Ser487Ala) c.1339T>G (p.Ser447Ala) | |
2 | g.189562135A>G | CA349986969 | SLC40A1 | c.1459T>C (p.Ser487Pro) c.1339T>C (p.Ser447Pro) | |
2 | g.189562135A>T | CA349986970 | SLC40A1 | c.1459T>A (p.Ser487Thr) c.1339T>A (p.Ser447Thr) | |
2 | g.189562136T>A | CA349986971 | SLC40A1 | c.1458A>T (p.Glu486Asp) c.1338A>T (p.Glu446Asp) | |
2 | g.189562136T>C | CA430502674 | SLC40A1 | c.1458A>G (p.Glu486=) c.1338A>G (p.Glu446=) | |
2 | g.189562136T>G | CA349986972 | SLC40A1 | c.1458A>C (p.Glu486Asp) c.1338A>C (p.Glu446Asp) | |
2 | g.189562137T>A | CA349986973 | SLC40A1 | c.1457A>T (p.Glu486Val) c.1337A>T (p.Glu446Val) | |
2 | g.189562137T>C | CA349986975 | SLC40A1 | c.1457A>G (p.Glu486Gly) c.1337A>G (p.Glu446Gly) | |
2 | g.189562137T>G | CA349986974 | SLC40A1 | c.1457A>C (p.Glu486Ala) c.1337A>C (p.Glu446Ala) | |
2 | g.189562138C>A | CA349986976 | SLC40A1 | c.1456G>T (p.Glu486Ter) c.1336G>T (p.Glu446Ter) | gnomAD v4 |
2 | g.189562138C= | CA1315652911 | SLC40A1 | c.1456G= (p.Glu486=) c.1336G= (p.Glu446=) | |
2 | g.189562138C>G | CA349986977 | SLC40A1 | c.1456G>C (p.Glu486Gln) c.1336G>C (p.Glu446Gln) | dbSNP gnomAD v4 |
2 | g.189562138C>T | CA349986978 | SLC40A1 | c.1456G>A (p.Glu486Lys) c.1336G>A (p.Glu446Lys) | gnomAD v4 |
2 | g.189562139A>C | CA349986979 | SLC40A1 | c.1455T>G (p.Ile485Met) c.1335T>G (p.Ile445Met) | |
2 | g.189562139A>G | CA430502678 | SLC40A1 | c.1455T>C (p.Ile485=) c.1335T>C (p.Ile445=) | |
2 | g.189562139A>T | CA430502677 | SLC40A1 | c.1455T>A (p.Ile485=) c.1335T>A (p.Ile445=) | |
2 | g.189562140A= | CA1315652914 | SLC40A1 | c.1454T= (p.Ile485=) c.1334T= (p.Ile445=) | |
2 | g.189562140A>C | CA349986980 | SLC40A1 | c.1454T>G (p.Ile485Ser) c.1334T>G (p.Ile445Ser) | |
2 | g.189562140A>G | CA2024052 | SLC40A1 | c.1454T>C (p.Ile485Thr) c.1334T>C (p.Ile445Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189562140A>T | CA349986981 | SLC40A1 | c.1454T>A (p.Ile485Asn) c.1334T>A (p.Ile445Asn) | |
2 | g.189562141T>A | CA349986982 | SLC40A1 | c.1453A>T (p.Ile485Phe) c.1333A>T (p.Ile445Phe) | |
2 | g.189562141T>C | CA2024053 | SLC40A1 | c.1453A>G (p.Ile485Val) c.1333A>G (p.Ile445Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189562141T>G | CA349986983 | SLC40A1 | c.1453A>C (p.Ile485Leu) c.1333A>C (p.Ile445Leu) | |
2 | g.189562141T= | CA1315652916 | SLC40A1 | c.1453A= (p.Ile485=) c.1333A= (p.Ile445=) | |
2 | g.189562142T>A | CA430502683 | SLC40A1 | c.1452A>T (p.Val484=) c.1332A>T (p.Val444=) | |
2 | g.189562142T>C | CA430502684 | SLC40A1 | c.1452A>G (p.Val484=) c.1332A>G (p.Val444=) | |
2 | g.189562142T>G | CA430502685 | SLC40A1 | c.1452A>C (p.Val484=) c.1332A>C (p.Val444=) | |
2 | g.189562143A= | CA1315652919 | SLC40A1 | c.1451T= (p.Val484=) c.1331T= (p.Val444=) | |
2 | g.189562143A>C | CA349986984 | SLC40A1 | c.1451T>G (p.Val484Gly) c.1331T>G (p.Val444Gly) | |
2 | g.189562143A>G | CA349986985 | SLC40A1 | c.1451T>C (p.Val484Ala) c.1331T>C (p.Val444Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189562143A>T | CA349986986 | SLC40A1 | c.1451T>A (p.Val484Glu) c.1331T>A (p.Val444Glu) | |
2 | g.189562144C>A | CA349986987 | SLC40A1 | c.1450G>T (p.Val484Leu) c.1330G>T (p.Val444Leu) | |
2 | g.189562144C>G | CA349986988 | SLC40A1 | c.1450G>C (p.Val484Leu) c.1330G>C (p.Val444Leu) | gnomAD v4 |
2 | g.189562144C>T | CA349986989 | SLC40A1 | c.1450G>A (p.Val484Ile) c.1330G>A (p.Val444Ile) | |
2 | g.189562145A>C | CA349986990 | SLC40A1 | c.1449T>G (p.Asn483Lys) c.1329T>G (p.Asn443Lys) | |
2 | g.189562145A>G | CA430502688 | SLC40A1 | c.1449T>C (p.Asn483=) c.1329T>C (p.Asn443=) | gnomAD v4 |
2 | g.189562145A>T | CA349986991 | SLC40A1 | c.1449T>A (p.Asn483Lys) c.1329T>A (p.Asn443Lys) | |
2 | g.189562146T>A | CA349986992 | SLC40A1 | c.1448A>T (p.Asn483Ile) c.1328A>T (p.Asn443Ile) | |
2 | g.189562146T>C | CA349986994 | SLC40A1 | c.1448A>G (p.Asn483Ser) c.1328A>G (p.Asn443Ser) | |
2 | g.189562146T>G | CA349986993 | SLC40A1 | c.1448A>C (p.Asn483Thr) c.1328A>C (p.Asn443Thr) | |
2 | g.189562147T>A | CA349986995 | SLC40A1 | c.1447A>T (p.Asn483Tyr) c.1327A>T (p.Asn443Tyr) | |
2 | g.189562147T>C | CA349986996 | SLC40A1 | c.1447A>G (p.Asn483Asp) c.1327A>G (p.Asn443Asp) | |
2 | g.189562147T>G | CA349986997 | SLC40A1 | c.1447A>C (p.Asn483His) c.1327A>C (p.Asn443His) | COSMIC |
2 | g.189562148T>A | CA349986998 | SLC40A1 | c.1446A>T (p.Glu482Asp) c.1326A>T (p.Glu442Asp) | |
2 | g.189562148T>C | CA430502693 | SLC40A1 | c.1446A>G (p.Glu482=) c.1326A>G (p.Glu442=) | |
2 | g.189562148T>G | CA349986999 | SLC40A1 | c.1446A>C (p.Glu482Asp) c.1326A>C (p.Glu442Asp) | |
2 | g.189562149T>A | CA349987000 | SLC40A1 | c.1445A>T (p.Glu482Val) c.1325A>T (p.Glu442Val) | |
2 | g.189562149T>C | CA349987001 | SLC40A1 | c.1445A>G (p.Glu482Gly) c.1325A>G (p.Glu442Gly) | |
2 | g.189562149T>G | CA349987002 | SLC40A1 | c.1445A>C (p.Glu482Ala) c.1325A>C (p.Glu442Ala) | |
2 | g.189562150C>A | CA349987003 | SLC40A1 | c.1444G>T (p.Glu482Ter) c.1324G>T (p.Glu442Ter) | |
2 | g.189562150C= | CA1315652921 | SLC40A1 | c.1444G= (p.Glu482=) c.1324G= (p.Glu442=) | |
2 | g.189562150C>G | CA349987004 | SLC40A1 | c.1444G>C (p.Glu482Gln) c.1324G>C (p.Glu442Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189562150C>T | CA349987005 | SLC40A1 | c.1444G>A (p.Glu482Lys) c.1324G>A (p.Glu442Lys) | |
2 | g.189562151T>A | CA349987006 | SLC40A1 | c.1443A>T (p.Gln481His) c.1323A>T (p.Gln441His) | |
2 | g.189562151T>C | CA430502700 | SLC40A1 | c.1443A>G (p.Gln481=) c.1323A>G (p.Gln441=) | |
2 | g.189562151T>G | CA349987007 | SLC40A1 | c.1443A>C (p.Gln481His) c.1323A>C (p.Gln441His) | |
2 | g.189562152T>A | CA349987008 | SLC40A1 | c.1442A>T (p.Gln481Leu) c.1322A>T (p.Gln441Leu) | |
2 | g.189562152T>C | CA349987010 | SLC40A1 | c.1442A>G (p.Gln481Arg) c.1322A>G (p.Gln441Arg) | |
2 | g.189562152T>G | CA349987009 | SLC40A1 | c.1442A>C (p.Gln481Pro) c.1322A>C (p.Gln441Pro) | |
2 | g.189562153G>A | CA349987011 | SLC40A1 | c.1441C>T (p.Gln481Ter) c.1321C>T (p.Gln441Ter) | |
2 | g.189562153G>C | CA349987012 | SLC40A1 | c.1441C>G (p.Gln481Glu) c.1321C>G (p.Gln441Glu) | |
2 | g.189562153G>T | CA349987013 | SLC40A1 | c.1441C>A (p.Gln481Lys) c.1321C>A (p.Gln441Lys) | |
2 | g.189562154C>A | CA430502704 | SLC40A1 | c.1440G>T (p.Leu480=) c.1320G>T (p.Leu440=) | |
2 | g.189562154C>G | CA430502707 | SLC40A1 | c.1440G>C (p.Leu480=) c.1320G>C (p.Leu440=) | |
2 | g.189562154C>T | CA430502706 | SLC40A1 | c.1440G>A (p.Leu480=) c.1320G>A (p.Leu440=) | gnomAD v4 |
2 | g.189562155A>C | CA349987014 | SLC40A1 | c.1439T>G (p.Leu480Arg) c.1319T>G (p.Leu440Arg) | COSMIC |
2 | g.189562155A>G | CA349987015 | SLC40A1 | c.1439T>C (p.Leu480Pro) c.1319T>C (p.Leu440Pro) | |
2 | g.189562155A>T | CA349987016 | SLC40A1 | c.1439T>A (p.Leu480Gln) c.1319T>A (p.Leu440Gln) | |
2 | g.189562156G>A | CA430502710 | SLC40A1 | c.1438C>T (p.Leu480=) c.1318C>T (p.Leu440=) | |
2 | g.189562156G>C | CA349987017 | SLC40A1 | c.1438C>G (p.Leu480Val) c.1318C>G (p.Leu440Val) | |
2 | g.189562156G>T | CA349987018 | SLC40A1 | c.1438C>A (p.Leu480Met) c.1318C>A (p.Leu440Met) | |
2 | g.189562157C>A | CA349987019 | SLC40A1 | c.1437G>T (p.Leu479Phe) c.1317G>T (p.Leu439Phe) | |
2 | g.189562157C= | CA1315652925 | SLC40A1 | c.1437G= (p.Leu479=) c.1317G= (p.Leu439=) | |
2 | g.189562157C>G | CA349987020 | SLC40A1 | c.1437G>C (p.Leu479Phe) c.1317G>C (p.Leu439Phe) | |
2 | g.189562157C>T | CA430502715 | SLC40A1 | c.1437G>A (p.Leu479=) c.1317G>A (p.Leu439=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189562158A>C | CA349987022 | SLC40A1 | c.1436T>G (p.Leu479Trp) c.1316T>G (p.Leu439Trp) | |
2 | g.189562158A>G | CA349987023 | SLC40A1 | c.1436T>C (p.Leu479Ser) c.1316T>C (p.Leu439Ser) | gnomAD v4 |
2 | g.189562158A>T | CA349987021 | SLC40A1 | c.1436T>A (p.Leu479Ter) c.1316T>A (p.Leu439Ter) | |
2 | g.189562159A>C | CA349987024 | SLC40A1 | c.1435T>G (p.Leu479Val) c.1315T>G (p.Leu439Val) | |
2 | g.189562159A>G | CA430502719 | SLC40A1 | c.1435T>C (p.Leu479=) c.1315T>C (p.Leu439=) | |
2 | g.189562159A>T | CA349987025 | SLC40A1 | c.1435T>A (p.Leu479Met) c.1315T>A (p.Leu439Met) | |
2 | g.189562160C>A | CA349987026 | SLC40A1 | c.1434G>T (p.Gln478His) c.1314G>T (p.Gln438His) | |
2 | g.189562160C>G | CA349987027 | SLC40A1 | c.1434G>C (p.Gln478His) c.1314G>C (p.Gln438His) | |
2 | g.189562160C>T | CA430502721 | SLC40A1 | c.1434G>A (p.Gln478=) c.1314G>A (p.Gln438=) | |
2 | g.189562161T>A | CA349987028 | SLC40A1 | c.1433A>T (p.Gln478Leu) c.1313A>T (p.Gln438Leu) | |
2 | g.189562161T>C | CA349987029 | SLC40A1 | c.1433A>G (p.Gln478Arg) c.1313A>G (p.Gln438Arg) | |
2 | g.189562161T>G | CA349987030 | SLC40A1 | c.1433A>C (p.Gln478Pro) c.1313A>C (p.Gln438Pro) | |
2 | g.189562162G>A | CA349987031 | SLC40A1 | c.1432C>T (p.Gln478Ter) c.1312C>T (p.Gln438Ter) | |
2 | g.189562162G>C | CA349987032 | SLC40A1 | c.1432C>G (p.Gln478Glu) c.1312C>G (p.Gln438Glu) | |
2 | g.189562162G>T | CA349987033 | SLC40A1 | c.1432C>A (p.Gln478Lys) c.1312C>A (p.Gln438Lys) | |
2 | g.189562163T>A | CA430502724 | SLC40A1 | c.1431A>T (p.Thr477=) c.1311A>T (p.Thr437=) | |
2 | g.189562163T>C | CA430502725 | SLC40A1 | c.1431A>G (p.Thr477=) c.1311A>G (p.Thr437=) | COSMIC |
2 | g.189562163T>G | CA430502726 | SLC40A1 | c.1431A>C (p.Thr477=) c.1311A>C (p.Thr437=) | |
2 | g.189562164G>A | CA349987034 | SLC40A1 | c.1430C>T (p.Thr477Ile) c.1310C>T (p.Thr437Ile) | |
2 | g.189562164G>C | CA349987035 | SLC40A1 | c.1430C>G (p.Thr477Arg) c.1310C>G (p.Thr437Arg) | |
2 | g.189562164G>T | CA349987036 | SLC40A1 | c.1430C>A (p.Thr477Lys) c.1310C>A (p.Thr437Lys) | |
2 | g.189562165T>A | CA349987039 | SLC40A1 | c.1429A>T (p.Thr477Ser) c.1309A>T (p.Thr437Ser) | |
2 | g.189562165T>C | CA349987038 | SLC40A1 | c.1429A>G (p.Thr477Ala) c.1309A>G (p.Thr437Ala) | |
2 | g.189562165T>G | CA349987037 | SLC40A1 | c.1429A>C (p.Thr477Pro) c.1309A>C (p.Thr437Pro) | |
2 | g.189562165dup | CA2662328395 | SLC40A1 | c.1429dup (p.Thr477AsnfsTer10) c.1309dup (p.Thr437AsnfsTer10) | gnomAD v4 |
2 | g.189562166C>A | CA430502730 | SLC40A1 | c.1428G>T (p.Val476=) c.1308G>T (p.Val436=) | |
2 | g.189562166C>G | CA430502731 | SLC40A1 | c.1428G>C (p.Val476=) c.1308G>C (p.Val436=) | |
2 | g.189562166C>T | CA430502732 | SLC40A1 | c.1428G>A (p.Val476=) c.1308G>A (p.Val436=) | |
2 | g.189562167A>C | CA349987040 | SLC40A1 | c.1427T>G (p.Val476Gly) c.1307T>G (p.Val436Gly) | |
2 | g.189562167A>G | CA349987041 | SLC40A1 | c.1427T>C (p.Val476Ala) c.1307T>C (p.Val436Ala) | |
2 | g.189562167A>T | CA349987042 | SLC40A1 | c.1427T>A (p.Val476Glu) c.1307T>A (p.Val436Glu) | |
2 | g.189562168C>A | CA349987043 | SLC40A1 | c.1426G>T (p.Val476Leu) c.1306G>T (p.Val436Leu) | |
2 | g.189562168C>G | CA349987044 | SLC40A1 | c.1426G>C (p.Val476Leu) c.1306G>C (p.Val436Leu) | |
2 | g.189562168C>T | CA349987045 | SLC40A1 | c.1426G>A (p.Val476Met) c.1306G>A (p.Val436Met) | gnomAD v4 |
2 | g.189562169A= | CA1315652927 | SLC40A1 | c.1425T= (p.Thr475=) c.1305T= (p.Thr435=) | |
2 | g.189562169A>C | CA430502736 | SLC40A1 | c.1425T>G (p.Thr475=) c.1305T>G (p.Thr435=) | dbSNP |
2 | g.189562169A>G | CA430502737 | SLC40A1 | c.1425T>C (p.Thr475=) c.1305T>C (p.Thr435=) | ClinVar |
2 | g.189562169A>T | CA430502738 | SLC40A1 | c.1425T>A (p.Thr475=) c.1305T>A (p.Thr435=) | |
2 | g.189562170G>A | CA349987046 | SLC40A1 | c.1424C>T (p.Thr475Ile) c.1304C>T (p.Thr435Ile) | |
2 | g.189562170G>C | CA349987047 | SLC40A1 | c.1424C>G (p.Thr475Ser) c.1304C>G (p.Thr435Ser) | |
2 | g.189562170G>T | CA349987048 | SLC40A1 | c.1424C>A (p.Thr475Asn) c.1304C>A (p.Thr435Asn) | |
2 | g.189562171T>A | CA349987049 | SLC40A1 | c.1423A>T (p.Thr475Ser) c.1303A>T (p.Thr435Ser) | |
2 | g.189562171T>C | CA349987050 | SLC40A1 | c.1423A>G (p.Thr475Ala) c.1303A>G (p.Thr435Ala) | gnomAD v4 |
2 | g.189562171T>G | CA349987051 | SLC40A1 | c.1423A>C (p.Thr475Pro) c.1303A>C (p.Thr435Pro) | |
2 | g.189562172T>A | CA349987052 | SLC40A1 | c.1422A>T (p.Leu474Phe) c.1302A>T (p.Leu434Phe) | |
2 | g.189562172T>C | CA430502747 | SLC40A1 | c.1422A>G (p.Leu474=) c.1302A>G (p.Leu434=) | dbSNP |
2 | g.189562172T>G | CA349987053 | SLC40A1 | c.1422A>C (p.Leu474Phe) c.1302A>C (p.Leu434Phe) | |
2 | g.189562172T= | CA1315652929 | SLC40A1 | c.1422A= (p.Leu474=) c.1302A= (p.Leu434=) | |
2 | g.189562173A>C | CA349987055 | SLC40A1 | c.1421T>G (p.Leu474Ter) c.1301T>G (p.Leu434Ter) | |
2 | g.189562173A>G | CA349987056 | SLC40A1 | c.1421T>C (p.Leu474Ser) c.1301T>C (p.Leu434Ser) | |
2 | g.189562173A>T | CA349987054 | SLC40A1 | c.1421T>A (p.Leu474Ter) c.1301T>A (p.Leu434Ter) | |
2 | g.189562175dup | CA2662328396 | SLC40A1 | c.1421dup (p.Leu474PhefsTer13) c.1301dup (p.Leu434PhefsTer13) | gnomAD v4 |
2 | g.189562174A>C | CA349987057 | SLC40A1 | c.1420T>G (p.Leu474Val) c.1300T>G (p.Leu434Val) | |
2 | g.189562174A>G | CA430502755 | SLC40A1 | c.1420T>C (p.Leu474=) c.1300T>C (p.Leu434=) | |
2 | g.189562174A>T | CA349987058 | SLC40A1 | c.1420T>A (p.Leu474Ile) c.1300T>A (p.Leu434Ile) | gnomAD v4 |
2 | g.189562175A>C | CA349987059 | SLC40A1 | c.1419T>G (p.Asp473Glu) c.1299T>G (p.Asp433Glu) | |
2 | g.189562175A>G | CA430502760 | SLC40A1 | c.1419T>C (p.Asp473=) c.1299T>C (p.Asp433=) | |
2 | g.189562175A>T | CA349987060 | SLC40A1 | c.1419T>A (p.Asp473Glu) c.1299T>A (p.Asp433Glu) | |
2 | g.189562176T>A | CA349987061 | SLC40A1 | c.1418A>T (p.Asp473Val) c.1298A>T (p.Asp433Val) | |
2 | g.189562176T>C | CA349987062 | SLC40A1 | c.1418A>G (p.Asp473Gly) c.1298A>G (p.Asp433Gly) | |
2 | g.189562176T>G | CA349987063 | SLC40A1 | c.1418A>C (p.Asp473Ala) c.1298A>C (p.Asp433Ala) | |
2 | g.189562177C>A | CA349987064 | SLC40A1 | c.1417G>T (p.Asp473Tyr) c.1297G>T (p.Asp433Tyr) | gnomAD v4 |
2 | g.189562177C>G | CA349987065 | SLC40A1 | c.1417G>C (p.Asp473His) c.1297G>C (p.Asp433His) | |
2 | g.189562177C>T | CA349987066 | SLC40A1 | c.1417G>A (p.Asp473Asn) c.1297G>A (p.Asp433Asn) | |
2 | g.189562178A>C | CA349987067 | SLC40A1 | c.1416T>G (p.Phe472Leu) c.1296T>G (p.Phe432Leu) | |
2 | g.189562178A>G | CA430502764 | SLC40A1 | c.1416T>C (p.Phe472=) c.1296T>C (p.Phe432=) | |
2 | g.189562178A>T | CA349987068 | SLC40A1 | c.1416T>A (p.Phe472Leu) c.1296T>A (p.Phe432Leu) | gnomAD v4 |
2 | g.189562179A>C | CA349987070 | SLC40A1 | c.1415T>G (p.Phe472Cys) c.1295T>G (p.Phe432Cys) | |
2 | g.189562179A>G | CA349987071 | SLC40A1 | c.1415T>C (p.Phe472Ser) c.1295T>C (p.Phe432Ser) | |
2 | g.189562179A>T | CA349987069 | SLC40A1 | c.1415T>A (p.Phe472Tyr) c.1295T>A (p.Phe432Tyr) | |
2 | g.189562180A>C | CA349987072 | SLC40A1 | c.1414T>G (p.Phe472Val) c.1294T>G (p.Phe432Val) | |
2 | g.189562180A>G | CA349987073 | SLC40A1 | c.1414T>C (p.Phe472Leu) c.1294T>C (p.Phe432Leu) | |
2 | g.189562180A>T | CA349987074 | SLC40A1 | c.1414T>A (p.Phe472Ile) c.1294T>A (p.Phe432Ile) | |
2 | g.189562181G>A | CA2024055 | SLC40A1 | c.1413C>T (p.Ser471=) c.1293C>T (p.Ser431=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189562181G>C | CA2024054 | SLC40A1 | c.1413C>G (p.Ser471=) c.1293C>G (p.Ser431=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189562181G= | CA1315652938 | SLC40A1 | c.1413C= (p.Ser471=) c.1293C= (p.Ser431=) | |
2 | g.189562181G>T | CA430502771 | SLC40A1 | c.1413C>A (p.Ser471=) c.1293C>A (p.Ser431=) | gnomAD v4 |
2 | g.189562182G>A | CA349987077 | SLC40A1 | c.1412C>T (p.Ser471Phe) c.1292C>T (p.Ser431Phe) | |
2 | g.189562182G>C | CA349987075 | SLC40A1 | c.1412C>G (p.Ser471Cys) c.1292C>G (p.Ser431Cys) | |
2 | g.189562182G>T | CA349987076 | SLC40A1 | c.1412C>A (p.Ser471Tyr) c.1292C>A (p.Ser431Tyr) | gnomAD v4 |
2 | g.189562183A>C | CA349987078 | SLC40A1 | c.1411T>G (p.Ser471Ala) c.1291T>G (p.Ser431Ala) | |
2 | g.189562183A>G | CA349987079 | SLC40A1 | c.1411T>C (p.Ser471Pro) c.1291T>C (p.Ser431Pro) | |
2 | g.189562183A>T | CA349987080 | SLC40A1 | c.1411T>A (p.Ser471Thr) c.1291T>A (p.Ser431Thr) | |
2 | g.189562184C>A | CA349987081 | SLC40A1 | c.1410G>T (p.Trp470Cys) c.1290G>T (p.Trp430Cys) | |
2 | g.189562184C>G | CA349987082 | SLC40A1 | c.1410G>C (p.Trp470Cys) c.1290G>C (p.Trp430Cys) | |
2 | g.189562184C>T | CA349987083 | SLC40A1 | c.1410G>A (p.Trp470Ter) c.1290G>A (p.Trp430Ter) | |
2 | g.189562185C>A | CA349987085 | SLC40A1 | c.1409G>T (p.Trp470Leu) c.1289G>T (p.Trp430Leu) | |
2 | g.189562185C>G | CA349987086 | SLC40A1 | c.1409G>C (p.Trp470Ser) c.1289G>C (p.Trp430Ser) | |
2 | g.189562185C>T | CA349987084 | SLC40A1 | c.1409G>A (p.Trp470Ter) c.1289G>A (p.Trp430Ter) | |
2 | g.189562186A>C | CA349987087 | SLC40A1 | c.1408T>G (p.Trp470Gly) c.1288T>G (p.Trp430Gly) | |
2 | g.189562186A>G | CA349987089 | SLC40A1 | c.1408T>C (p.Trp470Arg) c.1288T>C (p.Trp430Arg) | |
2 | g.189562186A>T | CA349987088 | SLC40A1 | c.1408T>A (p.Trp470Arg) c.1288T>A (p.Trp430Arg) | |
2 | g.189562187A= | CA1315652943 | SLC40A1 | c.1407T= (p.Leu469=) c.1287T= (p.Leu429=) | |
2 | g.189562187A>C | CA430502777 | SLC40A1 | c.1407T>G (p.Leu469=) c.1287T>G (p.Leu429=) | dbSNP gnomAD v2 |
2 | g.189562187A>G | CA430502778 | SLC40A1 | c.1407T>C (p.Leu469=) c.1287T>C (p.Leu429=) | |
2 | g.189562187A>T | CA430502779 | SLC40A1 | c.1407T>A (p.Leu469=) c.1287T>A (p.Leu429=) | |
2 | g.189562188A>C | CA349987090 | SLC40A1 | c.1406T>G (p.Leu469Arg) c.1286T>G (p.Leu429Arg) | |
2 | g.189562188A>G | CA349987092 | SLC40A1 | c.1406T>C (p.Leu469Pro) c.1286T>C (p.Leu429Pro) | |
2 | g.189562188A>T | CA349987091 | SLC40A1 | c.1406T>A (p.Leu469His) c.1286T>A (p.Leu429His) | gnomAD v4 |
2 | g.189562189G>A | CA349987093 | SLC40A1 | c.1405C>T (p.Leu469Phe) c.1285C>T (p.Leu429Phe) | ClinVar |
2 | g.189562189G>C | CA349987094 | SLC40A1 | c.1405C>G (p.Leu469Val) c.1285C>G (p.Leu429Val) | |
2 | g.189562189G>T | CA349987095 | SLC40A1 | c.1405C>A (p.Leu469Ile) c.1285C>A (p.Leu429Ile) | gnomAD v4 |
2 | g.189562190A>C | CA430502784 | SLC40A1 | c.1404T>G (p.Gly468=) c.1284T>G (p.Gly428=) | |
2 | g.189562190A>G | CA430502785 | SLC40A1 | c.1404T>C (p.Gly468=) c.1284T>C (p.Gly428=) | |
2 | g.189562190A>T | CA430502786 | SLC40A1 | c.1404T>A (p.Gly468=) c.1284T>A (p.Gly428=) | gnomAD v4 |
2 | g.189562191C>A | CA349987096 | SLC40A1 | c.1403G>T (p.Gly468Val) c.1283G>T (p.Gly428Val) | |
2 | g.189562191C>G | CA349987097 | SLC40A1 | c.1403G>C (p.Gly468Ala) c.1283G>C (p.Gly428Ala) | |
2 | g.189562191C>T | CA349987098 | SLC40A1 | c.1403G>A (p.Gly468Asp) c.1283G>A (p.Gly428Asp) | |
2 | g.189562192C>A | CA349987099 | SLC40A1 | c.1403-1G>T (n.1403-1G>T) c.1283-1G>T (n.1283-1G>T) | gnomAD v4 |
2 | g.189562192C>G | CA349987100 | SLC40A1 | c.1403-1G>C (n.1403-1G>C) c.1283-1G>C (n.1283-1G>C) | |
2 | g.189562192C>T | CA349987101 | SLC40A1 | c.1403-1G>A (n.1403-1G>A) c.1283-1G>A (n.1283-1G>A) | gnomAD v3 gnomAD v4 |
2 | g.189562193T>A | CA349987102 | SLC40A1 | c.1403-2A>T (n.1403-2A>T) c.1283-2A>T (n.1283-2A>T) | |
2 | g.189562193T>C | CA349987103 | SLC40A1 | c.1403-2A>G (n.1403-2A>G) c.1283-2A>G (n.1283-2A>G) | |
2 | g.189562193T>G | CA349987104 | SLC40A1 | c.1403-2A>C (n.1403-2A>C) c.1283-2A>C (n.1283-2A>C) | dbSNP |
2 | g.189562194A= | CA1315652945 | SLC40A1 | c.1403-3T= (n.1403-3T=) c.1283-3T= (n.1283-3T=) | |
2 | g.189562194A>G | CA62902761 | SLC40A1 | c.1403-3T>C (n.1403-3T>C) c.1283-3T>C (n.1283-3T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189562195del | CA2662328397 | SLC40A1 | c.1403-4del (n.1403-4del) c.1283-4del (n.1283-4del) | gnomAD v4 |
2 | g.189562195T>C | CA538917959 | SLC40A1 | c.1403-4A>G (n.1403-4A>G) c.1283-4A>G (n.1283-4A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189562195T= | CA1315652947 | SLC40A1 | c.1403-4A= (n.1403-4A=) c.1283-4A= (n.1283-4A=) | |
2 | g.189562195_189562196insTCTAGCAGCAATGACGCCTGCAAACAGCAGACTG | CA2701180492 | SLC40A1 | c.1403-5_1403-4insCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA (n.1403-5_1403-4insCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA) c.1283-5_1283-4insCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA (n.1283-5_1283-4insCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA) | dbSNP |
2 | g.189562195_189562196insTCTAGCAGCAATGACGCCTGCAAACAGCAGACTGAC | CA2701180467 | SLC40A1 | c.1403-5_1403-4insGTCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA (n.1403-5_1403-4insGTCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA) c.1283-5_1283-4insGTCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA (n.1283-5_1283-4insGTCAGTCTGCTGTTTGCAGGCGTCATTGCTGCTAGA) | dbSNP |
2 | g.189562196A>C | CA2662328398 | SLC40A1 | c.1403-5T>G (n.1403-5T>G) c.1283-5T>G (n.1283-5T>G) | gnomAD v4 |
2 | g.189562197A>C | CA2662328399 | SLC40A1 | c.1403-6T>G (n.1403-6T>G) c.1283-6T>G (n.1283-6T>G) | gnomAD v4 |
2 | g.189562198T>A | CA2577188059 | SLC40A1 | c.1403-7A>T (n.1403-7A>T) c.1283-7A>T (n.1283-7A>T) | |
2 | g.189562198T>C | CA538917960 | SLC40A1 | c.1403-7A>G (n.1403-7A>G) c.1283-7A>G (n.1283-7A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189562198T= | CA1315652948 | SLC40A1 | c.1403-7A= (n.1403-7A=) c.1283-7A= (n.1283-7A=) | |
2 | g.189562202del | CA2662328400 | SLC40A1 | c.1403-8del (n.1403-8del) c.1283-8del (n.1283-8del) | gnomAD v4 |
2 | g.189562202A>G | CA2662328401 | SLC40A1 | c.1403-11T>C (n.1403-11T>C) c.1283-11T>C (n.1283-11T>C) | gnomAD v4 |
2 | g.189562203T>C | CA2662328402 | SLC40A1 | c.1403-12A>G (n.1403-12A>G) c.1283-12A>G (n.1283-12A>G) | gnomAD v4 |
2 | g.189562203_189562204delinsTA | CA1315652951 | SLC40A1 | c.1403-13_1403-12delinsTA (n.1403-13_1403-12delinsTA) c.1283-13_1283-12delinsTA (n.1283-13_1283-12delinsTA) | |
2 | g.189562204del | CA538917961 | SLC40A1 | c.1403-13del (n.1403-13del) c.1283-13del (n.1283-13del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189562204A= | CA1315652953 | SLC40A1 | c.1403-13T= (n.1403-13T=) c.1283-13T= (n.1283-13T=) | |
2 | g.189562204A>T | CA538917962 | SLC40A1 | c.1403-13T>A (n.1403-13T>A) c.1283-13T>A (n.1283-13T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189562211dup | CA2024056 | SLC40A1 | c.1403-14dup (n.1403-14dup) c.1283-14dup (n.1283-14dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189562211del | CA2577188060 | SLC40A1 | c.1403-14del (n.1403-14del) c.1283-14del (n.1283-14del) | gnomAD v4 |
2 | g.189562206T>A | CA1315652958 | SLC40A1 | c.1403-15A>T (n.1403-15A>T) c.1283-15A>T (n.1283-15A>T) | dbSNP gnomAD v4 |
2 | g.189562206T= | CA1315652956 | SLC40A1 | c.1403-15A= (n.1403-15A=) c.1283-15A= (n.1283-15A=) | |
2 | g.189562207T>C | CA1315652962 | SLC40A1 | c.1403-16A>G (n.1403-16A>G) c.1283-16A>G (n.1283-16A>G) | dbSNP gnomAD v4 |
2 | g.189562207T= | CA1315652960 | SLC40A1 | c.1403-16A= (n.1403-16A=) c.1283-16A= (n.1283-16A=) | |
2 | g.189562209T>A | CA2577188061 | SLC40A1 | c.1403-18A>T (n.1403-18A>T) c.1283-18A>T (n.1283-18A>T) | |
2 | g.189562209T>C | CA2662328403 | SLC40A1 | c.1403-18A>G (n.1403-18A>G) c.1283-18A>G (n.1283-18A>G) | gnomAD v4 |
2 | g.189562213A>T | CA2577188062 | SLC40A1 | c.1403-22T>A (n.1403-22T>A) c.1283-22T>A (n.1283-22T>A) | |
2 | g.189562214A>G | CA2662328404 | SLC40A1 | c.1403-23T>C (n.1403-23T>C) c.1283-23T>C (n.1283-23T>C) | gnomAD v4 |
2 | g.189562215G>A | CA538917964 | SLC40A1 | c.1403-24C>T (n.1403-24C>T) c.1283-24C>T (n.1283-24C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189562215G= | CA1315652963 | SLC40A1 | c.1403-24C= (n.1403-24C=) c.1283-24C= (n.1283-24C=) | |
2 | g.189562215G>T | CA538917963 | SLC40A1 | c.1403-24C>A (n.1403-24C>A) c.1283-24C>A (n.1283-24C>A) | dbSNP gnomAD v2 |
2 | g.189562216A= | CA1315652966 | SLC40A1 | c.1403-25T= (n.1403-25T=) c.1283-25T= (n.1283-25T=) | |
2 | g.189562216A>G | CA538917965 | SLC40A1 | c.1403-25T>C (n.1403-25T>C) c.1283-25T>C (n.1283-25T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189562218del | CA2662328405 | SLC40A1 | c.1403-26del (n.1403-26del) c.1283-26del (n.1283-26del) | gnomAD v4 |
2 | g.189562218T>C | CA2024057 | SLC40A1 | c.1403-27A>G (n.1403-27A>G) c.1283-27A>G (n.1283-27A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189562218T= | CA1315652968 | SLC40A1 | c.1403-27A= (n.1403-27A=) c.1283-27A= (n.1283-27A=) | |
2 | g.189562219A= | CA1315652971 | SLC40A1 | c.1403-28T= (n.1403-28T=) c.1283-28T= (n.1283-28T=) | |
2 | g.189562219A>G | CA1315652973 | SLC40A1 | c.1403-28T>C (n.1403-28T>C) c.1283-28T>C (n.1283-28T>C) | dbSNP gnomAD v4 |
2 | g.189562219_189562224delinsAGATTT | CA1315652970 | SLC40A1 | c.1403-33_1403-28delinsAAATCT (n.1403-33_1403-28delinsAAATCT) c.1283-33_1283-28delinsAAATCT (n.1283-33_1283-28delinsAAATCT) | |
2 | g.189562220G>C | CA1040449654 | SLC40A1 | c.1403-29C>G (n.1403-29C>G) c.1283-29C>G (n.1283-29C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189562220G= | CA1315652977 | SLC40A1 | c.1403-29C= (n.1403-29C=) c.1283-29C= (n.1283-29C=) | |
2 | g.189562220G>T | CA2662328406 | SLC40A1 | c.1403-29C>A (n.1403-29C>A) c.1283-29C>A (n.1283-29C>A) | gnomAD v4 |
2 | g.189562220_189562224del | CA2024058 | SLC40A1 | c.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 |
2 | g.189562222T>C | CA538917966 | SLC40A1 | c.1403-31A>G (n.1403-31A>G) c.1283-31A>G (n.1283-31A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189562222T= | CA1315652979 | SLC40A1 | c.1403-31A= (n.1403-31A=) c.1283-31A= (n.1283-31A=) | |
2 | g.189562224_189562225del | CA2662328407 | SLC40A1 | c.1403-32_1403-31del (n.1403-32_1403-31del) c.1283-32_1283-31del (n.1283-32_1283-31del) | gnomAD v4 |
2 | g.189562224T>A | CA1315652982 | SLC40A1 | c.1403-33A>T (n.1403-33A>T) c.1283-33A>T (n.1283-33A>T) | dbSNP |
2 | g.189562224T= | CA1315652981 | SLC40A1 | c.1403-33A= (n.1403-33A=) c.1283-33A= (n.1283-33A=) | |
2 | g.189562225T>C | CA62902762 | SLC40A1 | c.1403-34A>G (n.1403-34A>G) c.1283-34A>G (n.1283-34A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189562225T= | CA1315652984 | SLC40A1 | c.1403-34A= (n.1403-34A=) c.1283-34A= (n.1283-34A=) | |
2 | g.189562226A>T | CA2662328408 | SLC40A1 | c.1403-35T>A (n.1403-35T>A) c.1283-35T>A (n.1283-35T>A) | gnomAD v4 |
2 | g.189562228T>A | CA2662328410 | SLC40A1 | c.1403-37A>T (n.1403-37A>T) c.1283-37A>T (n.1283-37A>T) | gnomAD v4 |
2 | g.189562228T>C | CA2024059 | SLC40A1 | c.1403-37A>G (n.1403-37A>G) c.1283-37A>G (n.1283-37A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189562228T= | CA1315652988 | SLC40A1 | c.1403-37A= (n.1403-37A=) c.1283-37A= (n.1283-37A=) | |
2 | g.189562230del | CA2662328409 | SLC40A1 | c.1403-37del (n.1403-37del) c.1283-37del (n.1283-37del) | gnomAD v4 |
2 | g.189562229T>A | CA2662328411 | SLC40A1 | c.1403-38A>T (n.1403-38A>T) c.1283-38A>T (n.1283-38A>T) | gnomAD v4 |
2 | g.189562229T>C | CA2662328412 | SLC40A1 | c.1403-38A>G (n.1403-38A>G) c.1283-38A>G (n.1283-38A>G) | gnomAD v4 |
2 | g.189562230T>C | CA2024060 | SLC40A1 | c.1403-39A>G (n.1403-39A>G) c.1283-39A>G (n.1283-39A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189562230T= | CA1315652990 | SLC40A1 | c.1403-39A= (n.1403-39A=) c.1283-39A= (n.1283-39A=) | |
2 | g.189562234_189562241del | CA2662328413 | SLC40A1 | c.1403-46_1403-39del (n.1403-46_1403-39del) c.1283-46_1283-39del (n.1283-46_1283-39del) | gnomAD v4 |
2 | g.189562232C>T | CA2662328414 | SLC40A1 | c.1403-41G>A (n.1403-41G>A) c.1283-41G>A (n.1283-41G>A) | gnomAD v4 |
2 | g.189562233A>C | CA2662328415 | SLC40A1 | c.1403-42T>G (n.1403-42T>G) c.1283-42T>G (n.1283-42T>G) | gnomAD v4 |