Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.218394918_218394940del | CA2663117546 | SLC11A1 | c.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 |
2 | g.218394931A>C | CA350550663 | SLC11A1 | c.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 | |
2 | g.218394931A>G | CA350550664 | SLC11A1 | c.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 | |
2 | g.218394931A>T | CA350550665 | SLC11A1 | c.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 | |
2 | g.218394932C>A | CA350550666 | SLC11A1 | c.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 |
2 | g.218394932C= | CA1328738728 | SLC11A1 | c.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= | |
2 | g.218394932C>G | CA350550667 | SLC11A1 | c.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 |
2 | g.218394932C>T | CA2105420 | SLC11A1 | c.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 |
2 | g.218394933C>A | CA431408611 | SLC11A1 | c.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 | |
2 | g.218394933C= | CA1328738729 | SLC11A1 | c.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= | |
2 | g.218394933C>G | CA431408612 | SLC11A1 | c.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 | |
2 | g.218394933C>T | CA2105421 | SLC11A1 | c.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 |
2 | g.218394933_218394934insAACA | CA1328738730 | SLC11A1 | c.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 |
2 | g.218394934T>A | CA350550668 | SLC11A1 | c.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 | |
2 | g.218394934T>C | CA350550669 | SLC11A1 | c.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 | |
2 | g.218394934T>G | CA350550670 | SLC11A1 | c.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 | |
2 | g.218394935G>A | CA350550672 | SLC11A1 | c.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 |
2 | g.218394935G>C | CA350550673 | SLC11A1 | c.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 | |
2 | g.218394935G>T | CA350550671 | SLC11A1 | c.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 | |
2 | g.218394936T>A | CA350550674 | SLC11A1 | c.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 | |
2 | g.218394936T>C | CA431408618 | SLC11A1 | c.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 | |
2 | g.218394936T>G | CA350550675 | SLC11A1 | c.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 |
2 | g.218394937T>A | CA350550676 | SLC11A1 | c.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 | |
2 | g.218394937T>C | CA350550678 | SLC11A1 | c.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 | |
2 | g.218394937T>G | CA350550677 | SLC11A1 | c.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 | |
2 | g.218394938G>A | CA350550679 | SLC11A1 | c.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 | |
2 | g.218394938G>C | CA65776115 | SLC11A1 | c.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 |
2 | g.218394938G= | CA1328738731 | SLC11A1 | c.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= | |
2 | g.218394938G>T | CA350550680 | SLC11A1 | c.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 | |
2 | g.218394939C>A | CA350550681 | SLC11A1 | c.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 | |
2 | g.218394939C= | CA1328738732 | SLC11A1 | c.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= | |
2 | g.218394939C>G | CA350550682 | SLC11A1 | c.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 | |
2 | g.218394939C>T | CA431408629 | SLC11A1 | c.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 |
2 | g.218394940C>A | CA350550683 | SLC11A1 | c.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 | |
2 | g.218394940C>G | CA350550684 | SLC11A1 | c.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 | |
2 | g.218394940C>T | CA350550685 | SLC11A1 | c.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 |
2 | g.218394941T>A | CA350550686 | SLC11A1 | c.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 | |
2 | g.218394941T>C | CA2105422 | SLC11A1 | c.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 |
2 | g.218394941T>G | CA350550687 | SLC11A1 | c.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 | |
2 | g.218394941T= | CA1328738733 | SLC11A1 | c.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= | |
2 | g.218394942T>A | CA431408634 | SLC11A1 | c.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 | |
2 | g.218394942T>C | CA2105423 | SLC11A1 | c.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 |
2 | g.218394942T>G | CA431408635 | SLC11A1 | c.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 | |
2 | g.218394942T= | CA1328738734 | SLC11A1 | c.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= | |
2 | g.218394943G>A | CA350550688 | SLC11A1 | c.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 | |
2 | g.218394943G>C | CA350550690 | SLC11A1 | c.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 | |
2 | g.218394943G= | CA1328738735 | SLC11A1 | c.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= | |
2 | g.218394943G>T | CA350550689 | SLC11A1 | c.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 |
2 | g.218394944C>A | CA350550691 | SLC11A1 | c.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 | |
2 | g.218394944C= | CA1328738736 | SLC11A1 | c.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= |