Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.218394918_218394940delCA2663117546SLC11A1c.1543-7_1558del
c.*1125-7_*1140del
n.2019-7_2034del
n.4670-7_4685del
c.1342-7_1357del
c.1189-7_1204del
c.1096-7_1111del
c.1216-7_1231del
c.1420-7_1435del
c.1174-7_1189del
n.2558-7_2573del
n.2869-7_2884del
gnomAD v4
2g.218394931A>CCA350550663SLC11A1c.1549A>C (p.Thr517Pro)
c.*1131A>C (n.*1131A>C)
n.2025A>C
n.4676A>C
c.1348A>C (p.Thr450Pro)
c.1195A>C (p.Thr399Pro)
c.1102A>C (p.Thr368Pro)
c.1222A>C (p.Thr408Pro)
c.1426A>C (p.Thr476Pro)
c.1180A>C (p.Thr394Pro)
n.2564A>C
n.2875A>C
2g.218394931A>GCA350550664SLC11A1c.1549A>G (p.Thr517Ala)
c.*1131A>G (n.*1131A>G)
n.2025A>G
n.4676A>G
c.1348A>G (p.Thr450Ala)
c.1195A>G (p.Thr399Ala)
c.1102A>G (p.Thr368Ala)
c.1222A>G (p.Thr408Ala)
c.1426A>G (p.Thr476Ala)
c.1180A>G (p.Thr394Ala)
n.2564A>G
n.2875A>G
2g.218394931A>TCA350550665SLC11A1c.1549A>T (p.Thr517Ser)
c.*1131A>T (n.*1131A>T)
n.2025A>T
n.4676A>T
c.1348A>T (p.Thr450Ser)
c.1195A>T (p.Thr399Ser)
c.1102A>T (p.Thr368Ser)
c.1222A>T (p.Thr408Ser)
c.1426A>T (p.Thr476Ser)
c.1180A>T (p.Thr394Ser)
n.2564A>T
n.2875A>T
2g.218394932C>ACA350550666SLC11A1c.1550C>A (p.Thr517Asn)
c.*1132C>A (n.*1132C>A)
n.2026C>A
n.4677C>A
c.1349C>A (p.Thr450Asn)
c.1196C>A (p.Thr399Asn)
c.1103C>A (p.Thr368Asn)
c.1223C>A (p.Thr408Asn)
c.1427C>A (p.Thr476Asn)
c.1181C>A (p.Thr394Asn)
n.2565C>A
n.2876C>A
dbSNP
2g.218394932C=CA1328738728SLC11A1c.1550C= (p.Thr517=)
c.*1132C= (n.*1132C=)
n.2026C=
n.4677C=
c.1349C= (p.Thr450=)
c.1196C= (p.Thr399=)
c.1103C= (p.Thr368=)
c.1223C= (p.Thr408=)
c.1427C= (p.Thr476=)
c.1181C= (p.Thr394=)
n.2565C=
n.2876C=
2g.218394932C>GCA350550667SLC11A1c.1550C>G (p.Thr517Ser)
c.*1132C>G (n.*1132C>G)
n.2026C>G
n.4677C>G
c.1349C>G (p.Thr450Ser)
c.1196C>G (p.Thr399Ser)
c.1103C>G (p.Thr368Ser)
c.1223C>G (p.Thr408Ser)
c.1427C>G (p.Thr476Ser)
c.1181C>G (p.Thr394Ser)
n.2565C>G
n.2876C>G
dbSNP
2g.218394932C>TCA2105420SLC11A1c.1550C>T (p.Thr517Ile)
c.*1132C>T (n.*1132C>T)
n.2026C>T
n.4677C>T
c.1349C>T (p.Thr450Ile)
c.1196C>T (p.Thr399Ile)
c.1103C>T (p.Thr368Ile)
c.1223C>T (p.Thr408Ile)
c.1427C>T (p.Thr476Ile)
c.1181C>T (p.Thr394Ile)
n.2565C>T
n.2876C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.218394933C>ACA431408611SLC11A1c.1551C>A (p.Thr517=)
c.*1133C>A (n.*1133C>A)
n.2027C>A
n.4678C>A
c.1350C>A (p.Thr450=)
c.1197C>A (p.Thr399=)
c.1104C>A (p.Thr368=)
c.1224C>A (p.Thr408=)
c.1428C>A (p.Thr476=)
c.1182C>A (p.Thr394=)
n.2566C>A
n.2877C>A
2g.218394933C=CA1328738729SLC11A1c.1551C= (p.Thr517=)
c.*1133C= (n.*1133C=)
n.2027C=
n.4678C=
c.1350C= (p.Thr450=)
c.1197C= (p.Thr399=)
c.1104C= (p.Thr368=)
c.1224C= (p.Thr408=)
c.1428C= (p.Thr476=)
c.1182C= (p.Thr394=)
n.2566C=
n.2877C=
2g.218394933C>GCA431408612SLC11A1c.1551C>G (p.Thr517=)
c.*1133C>G (n.*1133C>G)
n.2027C>G
n.4678C>G
c.1350C>G (p.Thr450=)
c.1197C>G (p.Thr399=)
c.1104C>G (p.Thr368=)
c.1224C>G (p.Thr408=)
c.1428C>G (p.Thr476=)
c.1182C>G (p.Thr394=)
n.2566C>G
n.2877C>G
2g.218394933C>TCA2105421SLC11A1c.1551C>T (p.Thr517=)
c.*1133C>T (n.*1133C>T)
n.2027C>T
n.4678C>T
c.1350C>T (p.Thr450=)
c.1197C>T (p.Thr399=)
c.1104C>T (p.Thr368=)
c.1224C>T (p.Thr408=)
c.1428C>T (p.Thr476=)
c.1182C>T (p.Thr394=)
n.2566C>T
n.2877C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.218394933_218394934insAACACA1328738730SLC11A1c.1551_1552insAACA (p.Cys518AsnfsTer25)
c.*1133_*1134insAACA (n.*1133_*1134insAACA)
n.2027_2028insAACA
n.4678_4679insAACA
c.1350_1351insAACA (p.Cys451AsnfsTer25)
c.1197_1198insAACA (p.Cys400AsnfsTer25)
c.1104_1105insAACA (p.Cys369AsnfsTer25)
c.1224_1225insAACA (p.Cys409AsnfsTer25)
c.1428_1429insAACA (p.Cys477AsnfsTer25)
c.1182_1183insAACA (p.Cys395AsnfsTer25)
n.2566_2567insAACA
n.2877_2878insAACA
dbSNP
2g.218394934T>ACA350550668SLC11A1c.1552T>A (p.Cys518Ser)
c.*1134T>A (n.*1134T>A)
n.2028T>A
n.4679T>A
c.1351T>A (p.Cys451Ser)
c.1198T>A (p.Cys400Ser)
c.1105T>A (p.Cys369Ser)
c.1225T>A (p.Cys409Ser)
c.1429T>A (p.Cys477Ser)
c.1183T>A (p.Cys395Ser)
n.2567T>A
n.2878T>A
2g.218394934T>CCA350550669SLC11A1c.1552T>C (p.Cys518Arg)
c.*1134T>C (n.*1134T>C)
n.2028T>C
n.4679T>C
c.1351T>C (p.Cys451Arg)
c.1198T>C (p.Cys400Arg)
c.1105T>C (p.Cys369Arg)
c.1225T>C (p.Cys409Arg)
c.1429T>C (p.Cys477Arg)
c.1183T>C (p.Cys395Arg)
n.2567T>C
n.2878T>C
2g.218394934T>GCA350550670SLC11A1c.1552T>G (p.Cys518Gly)
c.*1134T>G (n.*1134T>G)
n.2028T>G
n.4679T>G
c.1351T>G (p.Cys451Gly)
c.1198T>G (p.Cys400Gly)
c.1105T>G (p.Cys369Gly)
c.1225T>G (p.Cys409Gly)
c.1429T>G (p.Cys477Gly)
c.1183T>G (p.Cys395Gly)
n.2567T>G
n.2878T>G
2g.218394935G>ACA350550672SLC11A1c.1553G>A (p.Cys518Tyr)
c.*1135G>A (n.*1135G>A)
n.2029G>A
n.4680G>A
c.1352G>A (p.Cys451Tyr)
c.1199G>A (p.Cys400Tyr)
c.1106G>A (p.Cys369Tyr)
c.1226G>A (p.Cys409Tyr)
c.1430G>A (p.Cys477Tyr)
c.1184G>A (p.Cys395Tyr)
n.2568G>A
n.2879G>A
gnomAD v4
2g.218394935G>CCA350550673SLC11A1c.1553G>C (p.Cys518Ser)
c.*1135G>C (n.*1135G>C)
n.2029G>C
n.4680G>C
c.1352G>C (p.Cys451Ser)
c.1199G>C (p.Cys400Ser)
c.1106G>C (p.Cys369Ser)
c.1226G>C (p.Cys409Ser)
c.1430G>C (p.Cys477Ser)
c.1184G>C (p.Cys395Ser)
n.2568G>C
n.2879G>C
2g.218394935G>TCA350550671SLC11A1c.1553G>T (p.Cys518Phe)
c.*1135G>T (n.*1135G>T)
n.2029G>T
n.4680G>T
c.1352G>T (p.Cys451Phe)
c.1199G>T (p.Cys400Phe)
c.1106G>T (p.Cys369Phe)
c.1226G>T (p.Cys409Phe)
c.1430G>T (p.Cys477Phe)
c.1184G>T (p.Cys395Phe)
n.2568G>T
n.2879G>T
2g.218394936T>ACA350550674SLC11A1c.1554T>A (p.Cys518Ter)
c.*1136T>A (n.*1136T>A)
n.2030T>A
n.4681T>A
c.1353T>A (p.Cys451Ter)
c.1200T>A (p.Cys400Ter)
c.1107T>A (p.Cys369Ter)
c.1227T>A (p.Cys409Ter)
c.1431T>A (p.Cys477Ter)
c.1185T>A (p.Cys395Ter)
n.2569T>A
n.2880T>A
2g.218394936T>CCA431408618SLC11A1c.1554T>C (p.Cys518=)
c.*1136T>C (n.*1136T>C)
n.2030T>C
n.4681T>C
c.1353T>C (p.Cys451=)
c.1200T>C (p.Cys400=)
c.1107T>C (p.Cys369=)
c.1227T>C (p.Cys409=)
c.1431T>C (p.Cys477=)
c.1185T>C (p.Cys395=)
n.2569T>C
n.2880T>C
2g.218394936T>GCA350550675SLC11A1c.1554T>G (p.Cys518Trp)
c.*1136T>G (n.*1136T>G)
n.2030T>G
n.4681T>G
c.1353T>G (p.Cys451Trp)
c.1200T>G (p.Cys400Trp)
c.1107T>G (p.Cys369Trp)
c.1227T>G (p.Cys409Trp)
c.1431T>G (p.Cys477Trp)
c.1185T>G (p.Cys395Trp)
n.2569T>G
n.2880T>G
gnomAD v4
2g.218394937T>ACA350550676SLC11A1c.1555T>A (p.Cys519Ser)
c.*1137T>A (n.*1137T>A)
n.2031T>A
n.4682T>A
c.1354T>A (p.Cys452Ser)
c.1201T>A (p.Cys401Ser)
c.1108T>A (p.Cys370Ser)
c.1228T>A (p.Cys410Ser)
c.1432T>A (p.Cys478Ser)
c.1186T>A (p.Cys396Ser)
n.2570T>A
n.2881T>A
2g.218394937T>CCA350550678SLC11A1c.1555T>C (p.Cys519Arg)
c.*1137T>C (n.*1137T>C)
n.2031T>C
n.4682T>C
c.1354T>C (p.Cys452Arg)
c.1201T>C (p.Cys401Arg)
c.1108T>C (p.Cys370Arg)
c.1228T>C (p.Cys410Arg)
c.1432T>C (p.Cys478Arg)
c.1186T>C (p.Cys396Arg)
n.2570T>C
n.2881T>C
2g.218394937T>GCA350550677SLC11A1c.1555T>G (p.Cys519Gly)
c.*1137T>G (n.*1137T>G)
n.2031T>G
n.4682T>G
c.1354T>G (p.Cys452Gly)
c.1201T>G (p.Cys401Gly)
c.1108T>G (p.Cys370Gly)
c.1228T>G (p.Cys410Gly)
c.1432T>G (p.Cys478Gly)
c.1186T>G (p.Cys396Gly)
n.2570T>G
n.2881T>G
2g.218394938G>ACA350550679SLC11A1c.1556G>A (p.Cys519Tyr)
c.*1138G>A (n.*1138G>A)
n.2032G>A
n.4683G>A
c.1355G>A (p.Cys452Tyr)
c.1202G>A (p.Cys401Tyr)
c.1109G>A (p.Cys370Tyr)
c.1229G>A (p.Cys410Tyr)
c.1433G>A (p.Cys478Tyr)
c.1187G>A (p.Cys396Tyr)
n.2571G>A
n.2882G>A
2g.218394938G>CCA65776115SLC11A1c.1556G>C (p.Cys519Ser)
c.*1138G>C (n.*1138G>C)
n.2032G>C
n.4683G>C
c.1355G>C (p.Cys452Ser)
c.1202G>C (p.Cys401Ser)
c.1109G>C (p.Cys370Ser)
c.1229G>C (p.Cys410Ser)
c.1433G>C (p.Cys478Ser)
c.1187G>C (p.Cys396Ser)
n.2571G>C
n.2882G>C
dbSNP
2g.218394938G=CA1328738731SLC11A1c.1556G= (p.Cys519=)
c.*1138G= (n.*1138G=)
n.2032G=
n.4683G=
c.1355G= (p.Cys452=)
c.1202G= (p.Cys401=)
c.1109G= (p.Cys370=)
c.1229G= (p.Cys410=)
c.1433G= (p.Cys478=)
c.1187G= (p.Cys396=)
n.2571G=
n.2882G=
2g.218394938G>TCA350550680SLC11A1c.1556G>T (p.Cys519Phe)
c.*1138G>T (n.*1138G>T)
n.2032G>T
n.4683G>T
c.1355G>T (p.Cys452Phe)
c.1202G>T (p.Cys401Phe)
c.1109G>T (p.Cys370Phe)
c.1229G>T (p.Cys410Phe)
c.1433G>T (p.Cys478Phe)
c.1187G>T (p.Cys396Phe)
n.2571G>T
n.2882G>T
2g.218394939C>ACA350550681SLC11A1c.1557C>A (p.Cys519Ter)
c.*1139C>A (n.*1139C>A)
n.2033C>A
n.4684C>A
c.1356C>A (p.Cys452Ter)
c.1203C>A (p.Cys401Ter)
c.1110C>A (p.Cys370Ter)
c.1230C>A (p.Cys410Ter)
c.1434C>A (p.Cys478Ter)
c.1188C>A (p.Cys396Ter)
n.2572C>A
n.2883C>A
2g.218394939C=CA1328738732SLC11A1c.1557C= (p.Cys519=)
c.*1139C= (n.*1139C=)
n.2033C=
n.4684C=
c.1356C= (p.Cys452=)
c.1203C= (p.Cys401=)
c.1110C= (p.Cys370=)
c.1230C= (p.Cys410=)
c.1434C= (p.Cys478=)
c.1188C= (p.Cys396=)
n.2572C=
n.2883C=
2g.218394939C>GCA350550682SLC11A1c.1557C>G (p.Cys519Trp)
c.*1139C>G (n.*1139C>G)
n.2033C>G
n.4684C>G
c.1356C>G (p.Cys452Trp)
c.1203C>G (p.Cys401Trp)
c.1110C>G (p.Cys370Trp)
c.1230C>G (p.Cys410Trp)
c.1434C>G (p.Cys478Trp)
c.1188C>G (p.Cys396Trp)
n.2572C>G
n.2883C>G
2g.218394939C>TCA431408629SLC11A1c.1557C>T (p.Cys519=)
c.*1139C>T (n.*1139C>T)
n.2033C>T
n.4684C>T
c.1356C>T (p.Cys452=)
c.1203C>T (p.Cys401=)
c.1110C>T (p.Cys370=)
c.1230C>T (p.Cys410=)
c.1434C>T (p.Cys478=)
c.1188C>T (p.Cys396=)
n.2572C>T
n.2883C>T
dbSNP gnomAD v4
2g.218394940C>ACA350550683SLC11A1c.1558C>A (p.Leu520Ile)
c.*1140C>A (n.*1140C>A)
n.2034C>A
n.4685C>A
c.1357C>A (p.Leu453Ile)
c.1204C>A (p.Leu402Ile)
c.1111C>A (p.Leu371Ile)
c.1231C>A (p.Leu411Ile)
c.1435C>A (p.Leu479Ile)
c.1189C>A (p.Leu397Ile)
n.2573C>A
n.2884C>A
2g.218394940C>GCA350550684SLC11A1c.1558C>G (p.Leu520Val)
c.*1140C>G (n.*1140C>G)
n.2034C>G
n.4685C>G
c.1357C>G (p.Leu453Val)
c.1204C>G (p.Leu402Val)
c.1111C>G (p.Leu371Val)
c.1231C>G (p.Leu411Val)
c.1435C>G (p.Leu479Val)
c.1189C>G (p.Leu397Val)
n.2573C>G
n.2884C>G
2g.218394940C>TCA350550685SLC11A1c.1558C>T (p.Leu520Phe)
c.*1140C>T (n.*1140C>T)
n.2034C>T
n.4685C>T
c.1357C>T (p.Leu453Phe)
c.1204C>T (p.Leu402Phe)
c.1111C>T (p.Leu371Phe)
c.1231C>T (p.Leu411Phe)
c.1435C>T (p.Leu479Phe)
c.1189C>T (p.Leu397Phe)
n.2573C>T
n.2884C>T
gnomAD v4 COSMIC COSMIC
2g.218394941T>ACA350550686SLC11A1c.1559T>A (p.Leu520His)
c.*1141T>A (n.*1141T>A)
n.2035T>A
n.4686T>A
c.1358T>A (p.Leu453His)
c.1205T>A (p.Leu402His)
c.1112T>A (p.Leu371His)
c.1232T>A (p.Leu411His)
c.1436T>A (p.Leu479His)
c.1190T>A (p.Leu397His)
n.2574T>A
n.2885T>A
2g.218394941T>CCA2105422SLC11A1c.1559T>C (p.Leu520Pro)
c.*1141T>C (n.*1141T>C)
n.2035T>C
n.4686T>C
c.1358T>C (p.Leu453Pro)
c.1205T>C (p.Leu402Pro)
c.1112T>C (p.Leu371Pro)
c.1232T>C (p.Leu411Pro)
c.1436T>C (p.Leu479Pro)
c.1190T>C (p.Leu397Pro)
n.2574T>C
n.2885T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.218394941T>GCA350550687SLC11A1c.1559T>G (p.Leu520Arg)
c.*1141T>G (n.*1141T>G)
n.2035T>G
n.4686T>G
c.1358T>G (p.Leu453Arg)
c.1205T>G (p.Leu402Arg)
c.1112T>G (p.Leu371Arg)
c.1232T>G (p.Leu411Arg)
c.1436T>G (p.Leu479Arg)
c.1190T>G (p.Leu397Arg)
n.2574T>G
n.2885T>G
2g.218394941T=CA1328738733SLC11A1c.1559T= (p.Leu520=)
c.*1141T= (n.*1141T=)
n.2035T=
n.4686T=
c.1358T= (p.Leu453=)
c.1205T= (p.Leu402=)
c.1112T= (p.Leu371=)
c.1232T= (p.Leu411=)
c.1436T= (p.Leu479=)
c.1190T= (p.Leu397=)
n.2574T=
n.2885T=
2g.218394942T>ACA431408634SLC11A1c.1560T>A (p.Leu520=)
c.*1142T>A (n.*1142T>A)
n.2036T>A
n.4687T>A
c.1359T>A (p.Leu453=)
c.1206T>A (p.Leu402=)
c.1113T>A (p.Leu371=)
c.1233T>A (p.Leu411=)
c.1437T>A (p.Leu479=)
c.1191T>A (p.Leu397=)
n.2575T>A
n.2886T>A
2g.218394942T>CCA2105423SLC11A1c.1560T>C (p.Leu520=)
c.*1142T>C (n.*1142T>C)
n.2036T>C
n.4687T>C
c.1359T>C (p.Leu453=)
c.1206T>C (p.Leu402=)
c.1113T>C (p.Leu371=)
c.1233T>C (p.Leu411=)
c.1437T>C (p.Leu479=)
c.1191T>C (p.Leu397=)
n.2575T>C
n.2886T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.218394942T>GCA431408635SLC11A1c.1560T>G (p.Leu520=)
c.*1142T>G (n.*1142T>G)
n.2036T>G
n.4687T>G
c.1359T>G (p.Leu453=)
c.1206T>G (p.Leu402=)
c.1113T>G (p.Leu371=)
c.1233T>G (p.Leu411=)
c.1437T>G (p.Leu479=)
c.1191T>G (p.Leu397=)
n.2575T>G
n.2886T>G
2g.218394942T=CA1328738734SLC11A1c.1560T= (p.Leu520=)
c.*1142T= (n.*1142T=)
n.2036T=
n.4687T=
c.1359T= (p.Leu453=)
c.1206T= (p.Leu402=)
c.1113T= (p.Leu371=)
c.1233T= (p.Leu411=)
c.1437T= (p.Leu479=)
c.1191T= (p.Leu397=)
n.2575T=
n.2886T=
2g.218394943G>ACA350550688SLC11A1c.1561G>A (p.Ala521Thr)
c.*1143G>A (n.*1143G>A)
n.2037G>A
n.4688G>A
c.1360G>A (p.Ala454Thr)
c.1207G>A (p.Ala403Thr)
c.1114G>A (p.Ala372Thr)
c.1234G>A (p.Ala412Thr)
c.1438G>A (p.Ala480Thr)
c.1192G>A (p.Ala398Thr)
n.2576G>A
n.2887G>A
2g.218394943G>CCA350550690SLC11A1c.1561G>C (p.Ala521Pro)
c.*1143G>C (n.*1143G>C)
n.2037G>C
n.4688G>C
c.1360G>C (p.Ala454Pro)
c.1207G>C (p.Ala403Pro)
c.1114G>C (p.Ala372Pro)
c.1234G>C (p.Ala412Pro)
c.1438G>C (p.Ala480Pro)
c.1192G>C (p.Ala398Pro)
n.2576G>C
n.2887G>C
2g.218394943G=CA1328738735SLC11A1c.1561G= (p.Ala521=)
c.*1143G= (n.*1143G=)
n.2037G=
n.4688G=
c.1360G= (p.Ala454=)
c.1207G= (p.Ala403=)
c.1114G= (p.Ala372=)
c.1234G= (p.Ala412=)
c.1438G= (p.Ala480=)
c.1192G= (p.Ala398=)
n.2576G=
n.2887G=
2g.218394943G>TCA350550689SLC11A1c.1561G>T (p.Ala521Ser)
c.*1143G>T (n.*1143G>T)
n.2037G>T
n.4688G>T
c.1360G>T (p.Ala454Ser)
c.1207G>T (p.Ala403Ser)
c.1114G>T (p.Ala372Ser)
c.1234G>T (p.Ala412Ser)
c.1438G>T (p.Ala480Ser)
c.1192G>T (p.Ala398Ser)
n.2576G>T
n.2887G>T
dbSNP
2g.218394944C>ACA350550691SLC11A1c.1562C>A (p.Ala521Asp)
c.*1144C>A (n.*1144C>A)
n.2038C>A
n.4689C>A
c.1361C>A (p.Ala454Asp)
c.1208C>A (p.Ala403Asp)
c.1115C>A (p.Ala372Asp)
c.1235C>A (p.Ala412Asp)
c.1439C>A (p.Ala480Asp)
c.1193C>A (p.Ala398Asp)
n.2577C>A
n.2888C>A
2g.218394944C=CA1328738736SLC11A1c.1562C= (p.Ala521=)
c.*1144C= (n.*1144C=)
n.2038C=
n.4689C=
c.1361C= (p.Ala454=)
c.1208C= (p.Ala403=)
c.1115C= (p.Ala372=)
c.1235C= (p.Ala412=)
c.1439C= (p.Ala480=)
c.1193C= (p.Ala398=)
n.2577C=
n.2888C=

Number of alleles fetched