Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.189563660G>ACA430367235SLC40A1c.1326C>T (p.Val442=)
c.1206C>T (p.Val402=)
 dbSNP gnomAD v2
2g.189563660G>CCA430367233SLC40A1c.1326C>G (p.Val442=)
c.1206C>G (p.Val402=)
2g.189563660G=CA1315653874SLC40A1c.1326C= (p.Val442=)
c.1206C= (p.Val402=)
2g.189563660G>TCA430367234SLC40A1c.1326C>A (p.Val442=)
c.1206C>A (p.Val402=)
2g.189563661A>CCA349987267SLC40A1c.1325T>G (p.Val442Gly)
c.1205T>G (p.Val402Gly)
2g.189563661A>GCA349987269SLC40A1c.1325T>C (p.Val442Ala)
c.1205T>C (p.Val402Ala)
2g.189563661A>TCA349987268SLC40A1c.1325T>A (p.Val442Asp)
c.1205T>A (p.Val402Asp)
2g.189563662C>ACA349987270SLC40A1c.1324G>T (p.Val442Phe)
c.1204G>T (p.Val402Phe)
2g.189563662C=CA1315653879SLC40A1c.1324G= (p.Val442=)
c.1204G= (p.Val402=)
2g.189563662C>GCA349987271SLC40A1c.1324G>C (p.Val442Leu)
c.1204G>C (p.Val402Leu)
2g.189563662C>TCA62902883SLC40A1c.1324G>A (p.Val442Ile)
c.1204G>A (p.Val402Ile)
 dbSNP
2g.189563663A>CCA349987272SLC40A1c.1323T>G (p.Ile441Met)
c.1203T>G (p.Ile401Met)
2g.189563663A>GCA430367237SLC40A1c.1323T>C (p.Ile441=)
c.1203T>C (p.Ile401=)
2g.189563663A>TCA430367236SLC40A1c.1323T>A (p.Ile441=)
c.1203T>A (p.Ile401=)
2g.189563664A>CCA349987274SLC40A1c.1322T>G (p.Ile441Ser)
c.1202T>G (p.Ile401Ser)
2g.189563664A>GCA349987273SLC40A1c.1322T>C (p.Ile441Thr)
c.1202T>C (p.Ile401Thr)
2g.189563664A>TCA349987275SLC40A1c.1322T>A (p.Ile441Asn)
c.1202T>A (p.Ile401Asn)
2g.189563665T>ACA349987276SLC40A1c.1321A>T (p.Ile441Phe)
c.1201A>T (p.Ile401Phe)
2g.189563665T>CCA349987278SLC40A1c.1321A>G (p.Ile441Val)
c.1201A>G (p.Ile401Val)
2g.189563665T>GCA349987277SLC40A1c.1321A>C (p.Ile441Leu)
c.1201A>C (p.Ile401Leu)
2g.189563666A=CA1315653881SLC40A1c.1320T= (p.Asn440=)
c.1200T= (p.Asn400=)
2g.189563666A>CCA349987279SLC40A1c.1320T>G (p.Asn440Lys)
c.1200T>G (p.Asn400Lys)
2g.189563666A>GCA430367238SLC40A1c.1320T>C (p.Asn440=)
c.1200T>C (p.Asn400=)
 dbSNP
2g.189563666A>TCA349987280SLC40A1c.1320T>A (p.Asn440Lys)
c.1200T>A (p.Asn400Lys)
2g.189563667T>ACA349987281SLC40A1c.1319A>T (p.Asn440Ile)
c.1199A>T (p.Asn400Ile)
2g.189563667T>CCA349987282SLC40A1c.1319A>G (p.Asn440Ser)
c.1199A>G (p.Asn400Ser)
 COSMIC
2g.189563667T>GCA349987283SLC40A1c.1319A>C (p.Asn440Thr)
c.1199A>C (p.Asn400Thr)
2g.189563668T>ACA349987284SLC40A1c.1318A>T (p.Asn440Tyr)
c.1198A>T (p.Asn400Tyr)
2g.189563668T>CCA349987285SLC40A1c.1318A>G (p.Asn440Asp)
c.1198A>G (p.Asn400Asp)
2g.189563668T>GCA349987286SLC40A1c.1318A>C (p.Asn440His)
c.1198A>C (p.Asn400His)
2g.189563669A>CCA430367239SLC40A1c.1317T>G (p.Ala439=)
c.1197T>G (p.Ala399=)
2g.189563669A>GCA430367240SLC40A1c.1317T>C (p.Ala439=)
c.1197T>C (p.Ala399=)
2g.189563669A>TCA430367241SLC40A1c.1317T>A (p.Ala439=)
c.1197T>A (p.Ala399=)
2g.189563670G>ACA349987287SLC40A1c.1316C>T (p.Ala439Val)
c.1196C>T (p.Ala399Val)
2g.189563670G>CCA349987288SLC40A1c.1316C>G (p.Ala439Gly)
c.1196C>G (p.Ala399Gly)
2g.189563670G>TCA349987289SLC40A1c.1316C>A (p.Ala439Asp)
c.1196C>A (p.Ala399Asp)
2g.189563671C>ACA349987291SLC40A1c.1315G>T (p.Ala439Ser)
c.1195G>T (p.Ala399Ser)
2g.189563671C=CA1315653883SLC40A1c.1315G= (p.Ala439=)
c.1195G= (p.Ala399=)
2g.189563671C>GCA349987290SLC40A1c.1315G>C (p.Ala439Pro)
c.1195G>C (p.Ala399Pro)
2g.189563671C>TCA2024083SLC40A1c.1315G>A (p.Ala439Thr)
c.1195G>A (p.Ala399Thr)
 dbSNP ExAC gnomAD v4
2g.189563672A>CCA430367242SLC40A1c.1314T>G (p.Ser438=)
c.1194T>G (p.Ser398=)
2g.189563672A>GCA430367243SLC40A1c.1314T>C (p.Ser438=)
c.1194T>C (p.Ser398=)
2g.189563672A>TCA430367244SLC40A1c.1314T>A (p.Ser438=)
c.1194T>A (p.Ser398=)
2g.189563673G>ACA349987292SLC40A1c.1313C>T (p.Ser438Phe)
c.1193C>T (p.Ser398Phe)
 gnomAD v4
2g.189563673G>CCA349987293SLC40A1c.1313C>G (p.Ser438Cys)
c.1193C>G (p.Ser398Cys)
2g.189563673G>TCA349987294SLC40A1c.1313C>A (p.Ser438Tyr)
c.1193C>A (p.Ser398Tyr)
2g.189563674A>CCA349987295SLC40A1c.1312T>G (p.Ser438Ala)
c.1192T>G (p.Ser398Ala)
2g.189563674A>GCA349987296SLC40A1c.1312T>C (p.Ser438Pro)
c.1192T>C (p.Ser398Pro)
2g.189563674A>TCA349987297SLC40A1c.1312T>A (p.Ser438Thr)
c.1192T>A (p.Ser398Thr)
2g.189563675A>CCA349987298SLC40A1c.1311T>G (p.Asn437Lys)
c.1191T>G (p.Asn397Lys)
2g.189563675A>GCA430367245SLC40A1c.1311T>C (p.Asn437=)
c.1191T>C (p.Asn397=)
2g.189563675A>TCA349987299SLC40A1c.1311T>A (p.Asn437Lys)
c.1191T>A (p.Asn397Lys)
2g.189563676T>ACA349987300SLC40A1c.1310A>T (p.Asn437Ile)
c.1190A>T (p.Asn397Ile)
2g.189563676T>CCA349987301SLC40A1c.1310A>G (p.Asn437Ser)
c.1190A>G (p.Asn397Ser)
 gnomAD v4
2g.189563676T>GCA349987302SLC40A1c.1310A>C (p.Asn437Thr)
c.1190A>C (p.Asn397Thr)
2g.189563677T>ACA349987304SLC40A1c.1309A>T (p.Asn437Tyr)
c.1189A>T (p.Asn397Tyr)
2g.189563677T>CCA349987305SLC40A1c.1309A>G (p.Asn437Asp)
c.1189A>G (p.Asn397Asp)
2g.189563677T>GCA349987303SLC40A1c.1309A>C (p.Asn437His)
c.1189A>C (p.Asn397His)
2g.189563678A=CA1315653887SLC40A1c.1308T= (p.Ser436=)
c.1188T= (p.Ser396=)
2g.189563678A>CCA430367246SLC40A1c.1308T>G (p.Ser436=)
c.1188T>G (p.Ser396=)
 gnomAD v4
2g.189563678A>GCA430367247SLC40A1c.1308T>C (p.Ser436=)
c.1188T>C (p.Ser396=)
 dbSNP gnomAD v4
2g.189563678A>TCA430367248SLC40A1c.1308T>A (p.Ser436=)
c.1188T>A (p.Ser396=)
2g.189563679G>ACA62902884SLC40A1c.1307C>T (p.Ser436Phe)
c.1187C>T (p.Ser396Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.189563679G>CCA349987306SLC40A1c.1307C>G (p.Ser436Cys)
c.1187C>G (p.Ser396Cys)
2g.189563679G=CA1315653890SLC40A1c.1307C= (p.Ser436=)
c.1187C= (p.Ser396=)
2g.189563679G>TCA349987307SLC40A1c.1307C>A (p.Ser436Tyr)
c.1187C>A (p.Ser396Tyr)
2g.189563680A>CCA349987308SLC40A1c.1306T>G (p.Ser436Ala)
c.1186T>G (p.Ser396Ala)
2g.189563680A>GCA349987309SLC40A1c.1306T>C (p.Ser436Pro)
c.1186T>C (p.Ser396Pro)
2g.189563680A>TCA349987310SLC40A1c.1306T>A (p.Ser436Thr)
c.1186T>A (p.Ser396Thr)
 gnomAD v4
2g.189563681C>ACA430367249SLC40A1c.1305G>T (p.Gly435=)
c.1185G>T (p.Gly395=)
 COSMIC
2g.189563681C>GCA430367250SLC40A1c.1305G>C (p.Gly435=)
c.1185G>C (p.Gly395=)
2g.189563681C>TCA430367251SLC40A1c.1305G>A (p.Gly435=)
c.1185G>A (p.Gly395=)
 gnomAD v4
2g.189563682C>ACA349987313SLC40A1c.1304G>T (p.Gly435Val)
c.1184G>T (p.Gly395Val)
 gnomAD v4
2g.189563682C>GCA349987311SLC40A1c.1304G>C (p.Gly435Ala)
c.1184G>C (p.Gly395Ala)
2g.189563682C>TCA349987312SLC40A1c.1304G>A (p.Gly435Glu)
c.1184G>A (p.Gly395Glu)
2g.189563683C>ACA349987314SLC40A1c.1303G>T (p.Gly435Trp)
c.1183G>T (p.Gly395Trp)
2g.189563683C>GCA349987315SLC40A1c.1303G>C (p.Gly435Arg)
c.1183G>C (p.Gly395Arg)
2g.189563683C>TCA349987316SLC40A1c.1303G>A (p.Gly435Arg)
c.1183G>A (p.Gly395Arg)
2g.189563684A>CCA349987317SLC40A1c.1302T>G (p.Asn434Lys)
c.1182T>G (p.Asn394Lys)
2g.189563684A>GCA430367252SLC40A1c.1302T>C (p.Asn434=)
c.1182T>C (p.Asn394=)
2g.189563684A>TCA349987318SLC40A1c.1302T>A (p.Asn434Lys)
c.1182T>A (p.Asn394Lys)
2g.189563685T>ACA349987319SLC40A1c.1301A>T (p.Asn434Ile)
c.1181A>T (p.Asn394Ile)
2g.189563685T>CCA2024085SLC40A1c.1301A>G (p.Asn434Ser)
c.1181A>G (p.Asn394Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563685T>GCA2024084SLC40A1c.1301A>C (p.Asn434Thr)
c.1181A>C (p.Asn394Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563685T=CA1315653895SLC40A1c.1301A= (p.Asn434=)
c.1181A= (p.Asn394=)
2g.189563686T>ACA349987320SLC40A1c.1300A>T (p.Asn434Tyr)
c.1180A>T (p.Asn394Tyr)
2g.189563686T>CCA349987321SLC40A1c.1300A>G (p.Asn434Asp)
c.1180A>G (p.Asn394Asp)
 dbSNP
2g.189563686T>GCA349987322SLC40A1c.1300A>C (p.Asn434His)
c.1180A>C (p.Asn394His)
2g.189563686T=CA1315653899SLC40A1c.1300A= (p.Asn434=)
c.1180A= (p.Asn394=)
2g.189563687A>CCA430367255SLC40A1c.1299T>G (p.Ser433=)
c.1179T>G (p.Ser393=)
2g.189563687A>GCA430367254SLC40A1c.1299T>C (p.Ser433=)
c.1179T>C (p.Ser393=)
2g.189563687A>TCA430367253SLC40A1c.1299T>A (p.Ser433=)
c.1179T>A (p.Ser393=)
2g.189563688G>ACA349987323SLC40A1c.1298C>T (p.Ser433Phe)
c.1178C>T (p.Ser393Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189563688G>CCA349987324SLC40A1c.1298C>G (p.Ser433Cys)
c.1178C>G (p.Ser393Cys)
2g.189563688G=CA1315653901SLC40A1c.1298C= (p.Ser433=)
c.1178C= (p.Ser393=)
2g.189563688G>TCA349987325SLC40A1c.1298C>A (p.Ser433Tyr)
c.1178C>A (p.Ser393Tyr)
2g.189563689A>CCA349987326SLC40A1c.1297T>G (p.Ser433Ala)
c.1177T>G (p.Ser393Ala)
2g.189563689A>GCA349987327SLC40A1c.1297T>C (p.Ser433Pro)
c.1177T>C (p.Ser393Pro)
2g.189563689A>TCA349987328SLC40A1c.1297T>A (p.Ser433Thr)
c.1177T>A (p.Ser393Thr)
2g.189563690C>ACA349987329SLC40A1c.1296G>T (p.Met432Ile)
c.1176G>T (p.Met392Ile)
2g.189563690C>GCA349987330SLC40A1c.1296G>C (p.Met432Ile)
c.1176G>C (p.Met392Ile)
 gnomAD v4
2g.189563690C>TCA349987331SLC40A1c.1296G>A (p.Met432Ile)
c.1176G>A (p.Met392Ile)
2g.189563691A=CA1315653905SLC40A1c.1295T= (p.Met432=)
c.1175T= (p.Met392=)
2g.189563691A>CCA349987333SLC40A1c.1295T>G (p.Met432Arg)
c.1175T>G (p.Met392Arg)
2g.189563691A>GCA2024086SLC40A1c.1295T>C (p.Met432Thr)
c.1175T>C (p.Met392Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563691A>TCA349987332SLC40A1c.1295T>A (p.Met432Lys)
c.1175T>A (p.Met392Lys)
2g.189563692T>ACA349987334SLC40A1c.1294A>T (p.Met432Leu)
c.1174A>T (p.Met392Leu)
2g.189563692T>CCA2024087SLC40A1c.1294A>G (p.Met432Val)
c.1174A>G (p.Met392Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563692T>GCA2024088SLC40A1c.1294A>C (p.Met432Leu)
c.1174A>C (p.Met392Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563692T=CA1315653914SLC40A1c.1294A= (p.Met432=)
c.1174A= (p.Met392=)
2g.189563693G>ACA430367256SLC40A1c.1293C>T (p.Tyr431=)
c.1173C>T (p.Tyr391=)
 gnomAD v4
2g.189563693G>CCA349987335SLC40A1c.1293C>G (p.Tyr431Ter)
c.1173C>G (p.Tyr391Ter)
2g.189563693G>TCA349987336SLC40A1c.1293C>A (p.Tyr431Ter)
c.1173C>A (p.Tyr391Ter)
2g.189563694T>ACA349987337SLC40A1c.1292A>T (p.Tyr431Phe)
c.1172A>T (p.Tyr391Phe)
2g.189563694T>CCA349987338SLC40A1c.1292A>G (p.Tyr431Cys)
c.1172A>G (p.Tyr391Cys)
 gnomAD v4
2g.189563694T>GCA349987339SLC40A1c.1292A>C (p.Tyr431Ser)
c.1172A>C (p.Tyr391Ser)
2g.189563695A>CCA349987340SLC40A1c.1291T>G (p.Tyr431Asp)
c.1171T>G (p.Tyr391Asp)
2g.189563695A>GCA349987341SLC40A1c.1291T>C (p.Tyr431His)
c.1171T>C (p.Tyr391His)
 gnomAD v4
2g.189563695A>TCA349987342SLC40A1c.1291T>A (p.Tyr431Asn)
c.1171T>A (p.Tyr391Asn)
2g.189563696T>ACA430367257SLC40A1c.1290A>T (p.Ile430=)
c.1170A>T (p.Ile390=)
2g.189563696T>CCA349987343SLC40A1c.1290A>G (p.Ile430Met)
c.1170A>G (p.Ile390Met)
2g.189563696T>GCA430367258SLC40A1c.1290A>C (p.Ile430=)
c.1170A>C (p.Ile390=)
2g.189563697A>CCA349987344SLC40A1c.1289T>G (p.Ile430Arg)
c.1169T>G (p.Ile390Arg)
2g.189563697A>GCA349987345SLC40A1c.1289T>C (p.Ile430Thr)
c.1169T>C (p.Ile390Thr)
2g.189563697A>TCA349987346SLC40A1c.1289T>A (p.Ile430Lys)
c.1169T>A (p.Ile390Lys)
2g.189563698T>ACA349987349SLC40A1c.1288A>T (p.Ile430Leu)
c.1168A>T (p.Ile390Leu)
2g.189563698T>CCA349987348SLC40A1c.1288A>G (p.Ile430Val)
c.1168A>G (p.Ile390Val)
2g.189563698T>GCA349987347SLC40A1c.1288A>C (p.Ile430Leu)
c.1168A>C (p.Ile390Leu)
2g.189563699T>ACA349987350SLC40A1c.1287A>T (p.Glu429Asp)
c.1167A>T (p.Glu389Asp)
2g.189563699T>CCA430367259SLC40A1c.1287A>G (p.Glu429=)
c.1167A>G (p.Glu389=)
 gnomAD v4
2g.189563699T>GCA349987351SLC40A1c.1287A>C (p.Glu429Asp)
c.1167A>C (p.Glu389Asp)
2g.189563700T>ACA349987352SLC40A1c.1286A>T (p.Glu429Val)
c.1166A>T (p.Glu389Val)
2g.189563700T>CCA349987353SLC40A1c.1286A>G (p.Glu429Gly)
c.1166A>G (p.Glu389Gly)
2g.189563700T>GCA349987354SLC40A1c.1286A>C (p.Glu429Ala)
c.1166A>C (p.Glu389Ala)
2g.189563701C>ACA349987355SLC40A1c.1285G>T (p.Glu429Ter)
c.1165G>T (p.Glu389Ter)
2g.189563701C>GCA349987356SLC40A1c.1285G>C (p.Glu429Gln)
c.1165G>C (p.Glu389Gln)
2g.189563701C>TCA349987357SLC40A1c.1285G>A (p.Glu429Lys)
c.1165G>A (p.Glu389Lys)
2g.189563702A=CA1315653919SLC40A1c.1284T= (p.Thr428=)
c.1164T= (p.Thr388=)
2g.189563702A>CCA430367260SLC40A1c.1284T>G (p.Thr428=)
c.1164T>G (p.Thr388=)
2g.189563702A>GCA2024089SLC40A1c.1284T>C (p.Thr428=)
c.1164T>C (p.Thr388=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563702A>TCA430367261SLC40A1c.1284T>A (p.Thr428=)
c.1164T>A (p.Thr388=)
2g.189563703G>ACA349987358SLC40A1c.1283C>T (p.Thr428Ile)
c.1163C>T (p.Thr388Ile)
 dbSNP
2g.189563703G>CCA2024090SLC40A1c.1283C>G (p.Thr428Ser)
c.1163C>G (p.Thr388Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563703G=CA1315653921SLC40A1c.1283C= (p.Thr428=)
c.1163C= (p.Thr388=)
2g.189563703G>TCA349987359SLC40A1c.1283C>A (p.Thr428Asn)
c.1163C>A (p.Thr388Asn)
2g.189563704T>ACA349987361SLC40A1c.1282A>T (p.Thr428Ser)
c.1162A>T (p.Thr388Ser)
2g.189563704T>CCA349987360SLC40A1c.1282A>G (p.Thr428Ala)
c.1162A>G (p.Thr388Ala)
2g.189563704T>GCA2024091SLC40A1c.1282A>C (p.Thr428Pro)
c.1162A>C (p.Thr388Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563704T=CA1315653927SLC40A1c.1282A= (p.Thr428=)
c.1162A= (p.Thr388=)
2g.189563705T>ACA430367262SLC40A1c.1281A>T (p.Thr427=)
c.1161A>T (p.Thr387=)
2g.189563705T>CCA430367263SLC40A1c.1281A>G (p.Thr427=)
c.1161A>G (p.Thr387=)
2g.189563705T>GCA430367264SLC40A1c.1281A>C (p.Thr427=)
c.1161A>C (p.Thr387=)
2g.189563706G>ACA349987362SLC40A1c.1280C>T (p.Thr427Ile)
c.1160C>T (p.Thr387Ile)
2g.189563706G>CCA349987363SLC40A1c.1280C>G (p.Thr427Arg)
c.1160C>G (p.Thr387Arg)
2g.189563706G>TCA349987364SLC40A1c.1280C>A (p.Thr427Lys)
c.1160C>A (p.Thr387Lys)
 gnomAD v4
2g.189563707T>ACA349987365SLC40A1c.1279A>T (p.Thr427Ser)
c.1159A>T (p.Thr387Ser)
2g.189563707T>CCA349987366SLC40A1c.1279A>G (p.Thr427Ala)
c.1159A>G (p.Thr387Ala)
2g.189563707T>GCA349987367SLC40A1c.1279A>C (p.Thr427Pro)
c.1159A>C (p.Thr387Pro)
2g.189563708A>CCA349987368SLC40A1c.1278T>G (p.Ile426Met)
c.1158T>G (p.Ile386Met)
2g.189563708A>GCA430367265SLC40A1c.1278T>C (p.Ile426=)
c.1158T>C (p.Ile386=)
2g.189563708A>TCA430367266SLC40A1c.1278T>A (p.Ile426=)
c.1158T>A (p.Ile386=)
2g.189563709A>CCA349987369SLC40A1c.1277T>G (p.Ile426Ser)
c.1157T>G (p.Ile386Ser)
2g.189563709A>GCA349987370SLC40A1c.1277T>C (p.Ile426Thr)
c.1157T>C (p.Ile386Thr)
2g.189563709A>TCA349987371SLC40A1c.1277T>A (p.Ile426Asn)
c.1157T>A (p.Ile386Asn)
2g.189563709_189563710delinsATCA1315653929SLC40A1c.1276_1277delinsAT (p.Ile426=)
c.1156_1157delinsAT (p.Ile386=)
2g.189563710T>ACA349987372SLC40A1c.1276A>T (p.Ile426Phe)
c.1156A>T (p.Ile386Phe)
2g.189563710T>CCA349987373SLC40A1c.1276A>G (p.Ile426Val)
c.1156A>G (p.Ile386Val)
2g.189563710T>GCA349987374SLC40A1c.1276A>C (p.Ile426Leu)
c.1156A>C (p.Ile386Leu)
2g.189563712delCA1040449922SLC40A1c.1276del (p.Ile426LeufsTer27)
c.1156del (p.Ile386LeufsTer27)
 dbSNP gnomAD v3 gnomAD v4
2g.189563711T>ACA349987376SLC40A1c.1275A>T (p.Glu425Asp)
c.1155A>T (p.Glu385Asp)
2g.189563711T>CCA430367267SLC40A1c.1275A>G (p.Glu425=)
c.1155A>G (p.Glu385=)
2g.189563711T>GCA349987375SLC40A1c.1275A>C (p.Glu425Asp)
c.1155A>C (p.Glu385Asp)
2g.189563712T>ACA349987377SLC40A1c.1274A>T (p.Glu425Val)
c.1154A>T (p.Glu385Val)
2g.189563712T>CCA349987378SLC40A1c.1274A>G (p.Glu425Gly)
c.1154A>G (p.Glu385Gly)
2g.189563712T>GCA349987379SLC40A1c.1274A>C (p.Glu425Ala)
c.1154A>C (p.Glu385Ala)
2g.189563712T=CA1315653931SLC40A1c.1274A= (p.Glu425=)
c.1154A= (p.Glu385=)
2g.189563713C>ACA349987380SLC40A1c.1273G>T (p.Glu425Ter)
c.1153G>T (p.Glu385Ter)
2g.189563713C=CA1315653934SLC40A1c.1273G= (p.Glu425=)
c.1153G= (p.Glu385=)
2g.189563713C>GCA349987381SLC40A1c.1273G>C (p.Glu425Gln)
c.1153G>C (p.Glu385Gln)
2g.189563713C>TCA2024092SLC40A1c.1273G>A (p.Glu425Lys)
c.1153G>A (p.Glu385Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563713dupCA62902885SLC40A1c.1273dup (p.Glu425GlyfsTer5)
c.1153dup (p.Glu385GlyfsTer5)
 dbSNP
2g.189563714A>CCA430367270SLC40A1c.1272T>G (p.Pro424=)
c.1152T>G (p.Pro384=)
2g.189563714A>GCA430367268SLC40A1c.1272T>C (p.Pro424=)
c.1152T>C (p.Pro384=)
2g.189563714A>TCA430367269SLC40A1c.1272T>A (p.Pro424=)
c.1152T>A (p.Pro384=)
2g.189563715G>ACA349987382SLC40A1c.1271C>T (p.Pro424Leu)
c.1151C>T (p.Pro384Leu)
2g.189563715G>CCA349987383SLC40A1c.1271C>G (p.Pro424Arg)
c.1151C>G (p.Pro384Arg)
2g.189563715G>TCA349987384SLC40A1c.1271C>A (p.Pro424His)
c.1151C>A (p.Pro384His)
2g.189563716G>ACA2024093SLC40A1c.1270C>T (p.Pro424Ser)
c.1150C>T (p.Pro384Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563716G>CCA349987385SLC40A1c.1270C>G (p.Pro424Ala)
c.1150C>G (p.Pro384Ala)
 dbSNP
2g.189563716G=CA1315653939SLC40A1c.1270C= (p.Pro424=)
c.1150C= (p.Pro384=)
2g.189563716G>TCA349987386SLC40A1c.1270C>A (p.Pro424Thr)
c.1150C>A (p.Pro384Thr)
 COSMIC
2g.189563717T>ACA430367271SLC40A1c.1269A>T (p.Ile423=)
c.1149A>T (p.Ile383=)
2g.189563717T>CCA349987387SLC40A1c.1269A>G (p.Ile423Met)
c.1149A>G (p.Ile383Met)
2g.189563717T>GCA430367272SLC40A1c.1269A>C (p.Ile423=)
c.1149A>C (p.Ile383=)
2g.189563717dupCA2024094SLC40A1c.1269dup (p.Pro424ThrfsTer2)
c.1149dup (p.Pro384ThrfsTer2)
 dbSNP ExAC gnomAD v2
2g.189563718A>CCA349987390SLC40A1c.1268T>G (p.Ile423Arg)
c.1148T>G (p.Ile383Arg)
2g.189563718A>GCA349987389SLC40A1c.1268T>C (p.Ile423Thr)
c.1148T>C (p.Ile383Thr)
 gnomAD v4
2g.189563718A>TCA349987388SLC40A1c.1268T>A (p.Ile423Lys)
c.1148T>A (p.Ile383Lys)
2g.189563719T>ACA349987391SLC40A1c.1267A>T (p.Ile423Leu)
c.1147A>T (p.Ile383Leu)
2g.189563719T>CCA349987392SLC40A1c.1267A>G (p.Ile423Val)
c.1147A>G (p.Ile383Val)
2g.189563719T>GCA349987393SLC40A1c.1267A>C (p.Ile423Leu)
c.1147A>C (p.Ile383Leu)
2g.189563720C>ACA349987394SLC40A1c.1266G>T (p.Lys422Asn)
c.1146G>T (p.Lys382Asn)
2g.189563720C=CA1315653944SLC40A1c.1266G= (p.Lys422=)
c.1146G= (p.Lys382=)
2g.189563720C>GCA349987395SLC40A1c.1266G>C (p.Lys422Asn)
c.1146G>C (p.Lys382Asn)
2g.189563720C>TCA2024095SLC40A1c.1266G>A (p.Lys422=)
c.1146G>A (p.Lys382=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563721T>ACA349987398SLC40A1c.1265A>T (p.Lys422Met)
c.1145A>T (p.Lys382Met)
2g.189563721T>CCA349987397SLC40A1c.1265A>G (p.Lys422Arg)
c.1145A>G (p.Lys382Arg)
2g.189563721T>GCA349987396SLC40A1c.1265A>C (p.Lys422Thr)
c.1145A>C (p.Lys382Thr)
2g.189563722T>ACA349987399SLC40A1c.1264A>T (p.Lys422Ter)
c.1144A>T (p.Lys382Ter)
2g.189563722T>CCA349987400SLC40A1c.1264A>G (p.Lys422Glu)
c.1144A>G (p.Lys382Glu)
2g.189563722T>GCA349987401SLC40A1c.1264A>C (p.Lys422Gln)
c.1144A>C (p.Lys382Gln)
2g.189563723G>ACA430367274SLC40A1c.1263C>T (p.Thr421=)
c.1143C>T (p.Thr381=)
2g.189563723G>CCA430367275SLC40A1c.1263C>G (p.Thr421=)
c.1143C>G (p.Thr381=)
 gnomAD v4
2g.189563723G>TCA430367273SLC40A1c.1263C>A (p.Thr421=)
c.1143C>A (p.Thr381=)
2g.189563750_189563751insCAGGATTTGTGGCACCTTCTGACTGTCAAACTGTTCTTGTCAATCTCACGGTAGGTGTAATTGACTCTCCTTGAATGCA2499215545SLC40A1c.1263_1264insGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTCAATTACACCTACC (p.Lys422ValfsTer8)
c.1143_1144insGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTCAATTACACCTACC (p.Lys382ValfsTer8)
 ClinVar dbSNP
2g.189563724G>ACA349987402SLC40A1c.1262C>T (p.Thr421Ile)
c.1142C>T (p.Thr381Ile)
 dbSNP
2g.189563724G>CCA349987403SLC40A1c.1262C>G (p.Thr421Ser)
c.1142C>G (p.Thr381Ser)
2g.189563724G=CA1315653945SLC40A1c.1262C= (p.Thr421=)
c.1142C= (p.Thr381=)
2g.189563724G>TCA349987404SLC40A1c.1262C>A (p.Thr421Asn)
c.1142C>A (p.Thr381Asn)
2g.189563725T>ACA349987407SLC40A1c.1261A>T (p.Thr421Ser)
c.1141A>T (p.Thr381Ser)
2g.189563725T>CCA349987405SLC40A1c.1261A>G (p.Thr421Ala)
c.1141A>G (p.Thr381Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563725T>GCA349987406SLC40A1c.1261A>C (p.Thr421Pro)
c.1141A>C (p.Thr381Pro)
2g.189563725T=CA1315653948SLC40A1c.1261A= (p.Thr421=)
c.1141A= (p.Thr381=)
2g.189563726A>CCA430367278SLC40A1c.1260T>G (p.Pro420=)
c.1140T>G (p.Pro380=)
2g.189563726A>GCA430367276SLC40A1c.1260T>C (p.Pro420=)
c.1140T>C (p.Pro380=)
 gnomAD v4
2g.189563726A>TCA430367277SLC40A1c.1260T>A (p.Pro420=)
c.1140T>A (p.Pro380=)
2g.189563727G>ACA349987408SLC40A1c.1259C>T (p.Pro420Leu)
c.1139C>T (p.Pro380Leu)
 gnomAD v4
2g.189563727G>CCA349987409SLC40A1c.1259C>G (p.Pro420Arg)
c.1139C>G (p.Pro380Arg)
2g.189563727G>TCA349987410SLC40A1c.1259C>A (p.Pro420His)
c.1139C>A (p.Pro380His)
2g.189563728G>ACA349987411SLC40A1c.1258C>T (p.Pro420Ser)
c.1138C>T (p.Pro380Ser)
 dbSNP gnomAD v4
2g.189563728G>CCA349987412SLC40A1c.1258C>G (p.Pro420Ala)
c.1138C>G (p.Pro380Ala)
 dbSNP
2g.189563728G=CA1315653951SLC40A1c.1258C= (p.Pro420=)
c.1138C= (p.Pro380=)
2g.189563728G>TCA62902886SLC40A1c.1258C>A (p.Pro420Thr)
c.1138C>A (p.Pro380Thr)
 dbSNP gnomAD v4
2g.189563729T>ACA430367279SLC40A1c.1257A>T (p.Thr419=)
c.1137A>T (p.Thr379=)
2g.189563729T>CCA430367281SLC40A1c.1257A>G (p.Thr419=)
c.1137A>G (p.Thr379=)
 dbSNP gnomAD v4
2g.189563729T>GCA430367280SLC40A1c.1257A>C (p.Thr419=)
c.1137A>C (p.Thr379=)
2g.189563729T=CA1315653954SLC40A1c.1257A= (p.Thr419=)
c.1137A= (p.Thr379=)
2g.189563730G>ACA2024096SLC40A1c.1256C>T (p.Thr419Ile)
c.1136C>T (p.Thr379Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563730G>CCA349987413SLC40A1c.1256C>G (p.Thr419Arg)
c.1136C>G (p.Thr379Arg)
2g.189563730G=CA1315653956SLC40A1c.1256C= (p.Thr419=)
c.1136C= (p.Thr379=)
2g.189563730G>TCA349987414SLC40A1c.1256C>A (p.Thr419Lys)
c.1136C>A (p.Thr379Lys)

Number of alleles fetched