| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.218395018_218395027del | CA2577242875 | SLC11A1 | c.1636_1645del (p.Gly546LeufsTer15) c.*1218_*1227del (n.*1218_*1227del) n.2112_2121del n.4763_4772del c.1435_1444del (p.Gly479LeufsTer15) c.1282_1291del (p.Gly428LeufsTer15) c.1189_1198del (p.Gly397LeufsTer15) c.1309_1318del (p.Gly437LeufsTer15) c.1513_1522del (p.Gly505LeufsTer15) c.1267_1276del (p.Gly423LeufsTer15) n.2651_2660del n.2962_2971del | gnomAD v4 |
| 2 | g.218395021G>A | CA350550882 | SLC11A1 | c.1639G>A (p.Glu547Lys) c.*1221G>A (n.*1221G>A) n.2115G>A n.4766G>A c.1438G>A (p.Glu480Lys) c.1285G>A (p.Glu429Lys) c.1192G>A (p.Glu398Lys) c.1312G>A (p.Glu438Lys) c.1516G>A (p.Glu506Lys) c.1270G>A (p.Glu424Lys) n.2654G>A n.2965G>A | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.218395021G>C | CA350550886 | SLC11A1 | c.1639G>C (p.Glu547Gln) c.*1221G>C (n.*1221G>C) n.2115G>C n.4766G>C c.1438G>C (p.Glu480Gln) c.1285G>C (p.Glu429Gln) c.1192G>C (p.Glu398Gln) c.1312G>C (p.Glu438Gln) c.1516G>C (p.Glu506Gln) c.1270G>C (p.Glu424Gln) n.2654G>C n.2965G>C | |
| 2 | g.218395021G= | CA1328738769 | SLC11A1 | c.1639G= (p.Glu547=) c.*1221G= (n.*1221G=) n.2115G= n.4766G= c.1438G= (p.Glu480=) c.1285G= (p.Glu429=) c.1192G= (p.Glu398=) c.1312G= (p.Glu438=) c.1516G= (p.Glu506=) c.1270G= (p.Glu424=) n.2654G= n.2965G= | |
| 2 | g.218395021G>T | CA350550884 | SLC11A1 | c.1639G>T (p.Glu547Ter) c.*1221G>T (n.*1221G>T) n.2115G>T n.4766G>T c.1438G>T (p.Glu480Ter) c.1285G>T (p.Glu429Ter) c.1192G>T (p.Glu398Ter) c.1312G>T (p.Glu438Ter) c.1516G>T (p.Glu506Ter) c.1270G>T (p.Glu424Ter) n.2654G>T n.2965G>T | gnomAD v4 |
| 2 | g.218395022A>C | CA350550888 | SLC11A1 | c.1640A>C (p.Glu547Ala) c.*1222A>C (n.*1222A>C) n.2116A>C n.4767A>C c.1439A>C (p.Glu480Ala) c.1286A>C (p.Glu429Ala) c.1193A>C (p.Glu398Ala) c.1313A>C (p.Glu438Ala) c.1517A>C (p.Glu506Ala) c.1271A>C (p.Glu424Ala) n.2655A>C n.2966A>C | |
| 2 | g.218395022A>G | CA350550889 | SLC11A1 | c.1640A>G (p.Glu547Gly) c.*1222A>G (n.*1222A>G) n.2116A>G n.4767A>G c.1439A>G (p.Glu480Gly) c.1286A>G (p.Glu429Gly) c.1193A>G (p.Glu398Gly) c.1313A>G (p.Glu438Gly) c.1517A>G (p.Glu506Gly) c.1271A>G (p.Glu424Gly) n.2655A>G n.2966A>G | gnomAD v4 |
| 2 | g.218395022A>T | CA350550890 | SLC11A1 | c.1640A>T (p.Glu547Val) c.*1222A>T (n.*1222A>T) n.2116A>T n.4767A>T c.1439A>T (p.Glu480Val) c.1286A>T (p.Glu429Val) c.1193A>T (p.Glu398Val) c.1313A>T (p.Glu438Val) c.1517A>T (p.Glu506Val) c.1271A>T (p.Glu424Val) n.2655A>T n.2966A>T | |
| 2 | g.218395023G>A | CA431224267 | SLC11A1 | c.1641G>A (p.Glu547=) c.*1223G>A (n.*1223G>A) n.2117G>A n.4768G>A c.1440G>A (p.Glu480=) c.1287G>A (p.Glu429=) c.1194G>A (p.Glu398=) c.1314G>A (p.Glu438=) c.1518G>A (p.Glu506=) c.1272G>A (p.Glu424=) n.2656G>A n.2967G>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.218395023G>C | CA350550892 | SLC11A1 | c.1641G>C (p.Glu547Asp) c.*1223G>C (n.*1223G>C) n.2117G>C n.4768G>C c.1440G>C (p.Glu480Asp) c.1287G>C (p.Glu429Asp) c.1194G>C (p.Glu398Asp) c.1314G>C (p.Glu438Asp) c.1518G>C (p.Glu506Asp) c.1272G>C (p.Glu424Asp) n.2656G>C n.2967G>C | |
| 2 | g.218395023G= | CA1328738770 | SLC11A1 | c.1641G= (p.Glu547=) c.*1223G= (n.*1223G=) n.2117G= n.4768G= c.1440G= (p.Glu480=) c.1287G= (p.Glu429=) c.1194G= (p.Glu398=) c.1314G= (p.Glu438=) c.1518G= (p.Glu506=) c.1272G= (p.Glu424=) n.2656G= n.2967G= | |
| 2 | g.218395023G>T | CA350550893 | SLC11A1 | c.1641G>T (p.Glu547Asp) c.*1223G>T (n.*1223G>T) n.2117G>T n.4768G>T c.1440G>T (p.Glu480Asp) c.1287G>T (p.Glu429Asp) c.1194G>T (p.Glu398Asp) c.1314G>T (p.Glu438Asp) c.1518G>T (p.Glu506Asp) c.1272G>T (p.Glu424Asp) n.2656G>T n.2967G>T | |
| 2 | g.218395024A>C | CA350550896 | SLC11A1 | c.1642A>C (p.Thr548Pro) c.*1224A>C (n.*1224A>C) n.2118A>C n.4769A>C c.1441A>C (p.Thr481Pro) c.1288A>C (p.Thr430Pro) c.1195A>C (p.Thr399Pro) c.1315A>C (p.Thr439Pro) c.1519A>C (p.Thr507Pro) c.1273A>C (p.Thr425Pro) n.2657A>C n.2968A>C | |
| 2 | g.218395024A>G | CA350550897 | SLC11A1 | c.1642A>G (p.Thr548Ala) c.*1224A>G (n.*1224A>G) n.2118A>G n.4769A>G c.1441A>G (p.Thr481Ala) c.1288A>G (p.Thr430Ala) c.1195A>G (p.Thr399Ala) c.1315A>G (p.Thr439Ala) c.1519A>G (p.Thr507Ala) c.1273A>G (p.Thr425Ala) n.2657A>G n.2968A>G | |
| 2 | g.218395024A>T | CA350550899 | SLC11A1 | c.1642A>T (p.Thr548Ser) c.*1224A>T (n.*1224A>T) n.2118A>T n.4769A>T c.1441A>T (p.Thr481Ser) c.1288A>T (p.Thr430Ser) c.1195A>T (p.Thr399Ser) c.1315A>T (p.Thr439Ser) c.1519A>T (p.Thr507Ser) c.1273A>T (p.Thr425Ser) n.2657A>T n.2968A>T | |
| 2 | g.218395025C>A | CA350550902 | SLC11A1 | c.1643C>A (p.Thr548Asn) c.*1225C>A (n.*1225C>A) n.2119C>A n.4770C>A c.1442C>A (p.Thr481Asn) c.1289C>A (p.Thr430Asn) c.1196C>A (p.Thr399Asn) c.1316C>A (p.Thr439Asn) c.1520C>A (p.Thr507Asn) c.1274C>A (p.Thr425Asn) n.2658C>A n.2969C>A | dbSNP gnomAD v4 |
| 2 | g.218395025C= | CA1328738771 | SLC11A1 | c.1643C= (p.Thr548=) c.*1225C= (n.*1225C=) n.2119C= n.4770C= c.1442C= (p.Thr481=) c.1289C= (p.Thr430=) c.1196C= (p.Thr399=) c.1316C= (p.Thr439=) c.1520C= (p.Thr507=) c.1274C= (p.Thr425=) n.2658C= n.2969C= | |
| 2 | g.218395025C>G | CA350550903 | SLC11A1 | c.1643C>G (p.Thr548Ser) c.*1225C>G (n.*1225C>G) n.2119C>G n.4770C>G c.1442C>G (p.Thr481Ser) c.1289C>G (p.Thr430Ser) c.1196C>G (p.Thr399Ser) c.1316C>G (p.Thr439Ser) c.1520C>G (p.Thr507Ser) c.1274C>G (p.Thr425Ser) n.2658C>G n.2969C>G | |
| 2 | g.218395025C>T | CA350550905 | SLC11A1 | c.1643C>T (p.Thr548Ile) c.*1225C>T (n.*1225C>T) n.2119C>T n.4770C>T c.1442C>T (p.Thr481Ile) c.1289C>T (p.Thr430Ile) c.1196C>T (p.Thr399Ile) c.1316C>T (p.Thr439Ile) c.1520C>T (p.Thr507Ile) c.1274C>T (p.Thr425Ile) n.2658C>T n.2969C>T | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.218395026del | CA2663117630 | SLC11A1 | c.1644del (p.Ser549LeufsTer15) c.*1226del (n.*1226del) n.2120del n.4771del c.1443del (p.Ser482LeufsTer15) c.1290del (p.Ser431LeufsTer15) c.1197del (p.Ser400LeufsTer15) c.1317del (p.Ser440LeufsTer15) c.1521del (p.Ser508LeufsTer15) c.1275del (p.Ser426LeufsTer15) n.2659del n.2970del | gnomAD v4 |
| 2 | g.218395026C>A | CA431224270 | SLC11A1 | c.1644C>A (p.Thr548=) c.*1226C>A (n.*1226C>A) n.2120C>A n.4771C>A c.1443C>A (p.Thr481=) c.1290C>A (p.Thr430=) c.1197C>A (p.Thr399=) c.1317C>A (p.Thr439=) c.1521C>A (p.Thr507=) c.1275C>A (p.Thr425=) n.2659C>A n.2970C>A | gnomAD v4 |
| 2 | g.218395026C= | CA1328738772 | SLC11A1 | c.1644C= (p.Thr548=) c.*1226C= (n.*1226C=) n.2120C= n.4771C= c.1443C= (p.Thr481=) c.1290C= (p.Thr430=) c.1197C= (p.Thr399=) c.1317C= (p.Thr439=) c.1521C= (p.Thr507=) c.1275C= (p.Thr425=) n.2659C= n.2970C= | |
| 2 | g.218395026C>G | CA431224271 | SLC11A1 | c.1644C>G (p.Thr548=) c.*1226C>G (n.*1226C>G) n.2120C>G n.4771C>G c.1443C>G (p.Thr481=) c.1290C>G (p.Thr430=) c.1197C>G (p.Thr399=) c.1317C>G (p.Thr439=) c.1521C>G (p.Thr507=) c.1275C>G (p.Thr425=) n.2659C>G n.2970C>G | |
| 2 | g.218395026C>T | CA65776202 | SLC11A1 | c.1644C>T (p.Thr548=) c.*1226C>T (n.*1226C>T) n.2120C>T n.4771C>T c.1443C>T (p.Thr481=) c.1290C>T (p.Thr430=) c.1197C>T (p.Thr399=) c.1317C>T (p.Thr439=) c.1521C>T (p.Thr507=) c.1275C>T (p.Thr425=) n.2659C>T n.2970C>T | dbSNP gnomAD v4 |
| 2 | g.218395027T>A | CA350550908 | SLC11A1 | c.1645T>A (p.Ser549Thr) c.*1227T>A (n.*1227T>A) n.2121T>A n.4772T>A c.1444T>A (p.Ser482Thr) c.1291T>A (p.Ser431Thr) c.1198T>A (p.Ser400Thr) c.1318T>A (p.Ser440Thr) c.1522T>A (p.Ser508Thr) c.1276T>A (p.Ser426Thr) n.2660T>A n.2971T>A | |
| 2 | g.218395027T>C | CA350550912 | SLC11A1 | c.1645T>C (p.Ser549Pro) c.*1227T>C (n.*1227T>C) n.2121T>C n.4772T>C c.1444T>C (p.Ser482Pro) c.1291T>C (p.Ser431Pro) c.1198T>C (p.Ser400Pro) c.1318T>C (p.Ser440Pro) c.1522T>C (p.Ser508Pro) c.1276T>C (p.Ser426Pro) n.2660T>C n.2971T>C | ClinVar gnomAD v4 |
| 2 | g.218395027T>G | CA350550910 | SLC11A1 | c.1645T>G (p.Ser549Ala) c.*1227T>G (n.*1227T>G) n.2121T>G n.4772T>G c.1444T>G (p.Ser482Ala) c.1291T>G (p.Ser431Ala) c.1198T>G (p.Ser400Ala) c.1318T>G (p.Ser440Ala) c.1522T>G (p.Ser508Ala) c.1276T>G (p.Ser426Ala) n.2660T>G n.2971T>G | |
| 2 | g.218395028C>A | CA350550914 | SLC11A1 | c.1646C>A (p.Ser549Tyr) c.*1228C>A (n.*1228C>A) n.2122C>A n.4773C>A c.1445C>A (p.Ser482Tyr) c.1292C>A (p.Ser431Tyr) c.1199C>A (p.Ser400Tyr) c.1319C>A (p.Ser440Tyr) c.1523C>A (p.Ser508Tyr) c.1277C>A (p.Ser426Tyr) n.2661C>A n.2972C>A | gnomAD v4 |
| 2 | g.218395028C>G | CA350550915 | SLC11A1 | c.1646C>G (p.Ser549Cys) c.*1228C>G (n.*1228C>G) n.2122C>G n.4773C>G c.1445C>G (p.Ser482Cys) c.1292C>G (p.Ser431Cys) c.1199C>G (p.Ser400Cys) c.1319C>G (p.Ser440Cys) c.1523C>G (p.Ser508Cys) c.1277C>G (p.Ser426Cys) n.2661C>G n.2972C>G | |
| 2 | g.218395028C>T | CA350550918 | SLC11A1 | c.1646C>T (p.Ser549Phe) c.*1228C>T (n.*1228C>T) n.2122C>T n.4773C>T c.1445C>T (p.Ser482Phe) c.1292C>T (p.Ser431Phe) c.1199C>T (p.Ser400Phe) c.1319C>T (p.Ser440Phe) c.1523C>T (p.Ser508Phe) c.1277C>T (p.Ser426Phe) n.2661C>T n.2972C>T | COSMIC |
| 2 | g.218395029T>A | CA431224274 | SLC11A1 | c.1647T>A (p.Ser549=) c.*1229T>A (n.*1229T>A) n.2123T>A n.4774T>A c.1446T>A (p.Ser482=) c.1293T>A (p.Ser431=) c.1200T>A (p.Ser400=) c.1320T>A (p.Ser440=) c.1524T>A (p.Ser508=) c.1278T>A (p.Ser426=) n.2662T>A n.2973T>A | |
| 2 | g.218395029T>C | CA431224273 | SLC11A1 | c.1647T>C (p.Ser549=) c.*1229T>C (n.*1229T>C) n.2123T>C n.4774T>C c.1446T>C (p.Ser482=) c.1293T>C (p.Ser431=) c.1200T>C (p.Ser400=) c.1320T>C (p.Ser440=) c.1524T>C (p.Ser508=) c.1278T>C (p.Ser426=) n.2662T>C n.2973T>C | |
| 2 | g.218395029T>G | CA431224272 | SLC11A1 | c.1647T>G (p.Ser549=) c.*1229T>G (n.*1229T>G) n.2123T>G n.4774T>G c.1446T>G (p.Ser482=) c.1293T>G (p.Ser431=) c.1200T>G (p.Ser400=) c.1320T>G (p.Ser440=) c.1524T>G (p.Ser508=) c.1278T>G (p.Ser426=) n.2662T>G n.2973T>G | |
| 2 | g.218395030G>A | CA350550920 | SLC11A1 | c.1648G>A (p.Gly550Ser) c.*1230G>A (n.*1230G>A) n.2124G>A n.4775G>A c.1447G>A (p.Gly483Ser) c.1294G>A (p.Gly432Ser) c.1201G>A (p.Gly401Ser) c.1321G>A (p.Gly441Ser) c.1525G>A (p.Gly509Ser) c.1279G>A (p.Gly427Ser) n.2663G>A n.2974G>A | dbSNP gnomAD v2 |
| 2 | g.218395030G>C | CA350550921 | SLC11A1 | c.1648G>C (p.Gly550Arg) c.*1230G>C (n.*1230G>C) n.2124G>C n.4775G>C c.1447G>C (p.Gly483Arg) c.1294G>C (p.Gly432Arg) c.1201G>C (p.Gly401Arg) c.1321G>C (p.Gly441Arg) c.1525G>C (p.Gly509Arg) c.1279G>C (p.Gly427Arg) n.2663G>C n.2974G>C | |
| 2 | g.218395030G= | CA1328738773 | SLC11A1 | c.1648G= (p.Gly550=) c.*1230G= (n.*1230G=) n.2124G= n.4775G= c.1447G= (p.Gly483=) c.1294G= (p.Gly432=) c.1201G= (p.Gly401=) c.1321G= (p.Gly441=) c.1525G= (p.Gly509=) c.1279G= (p.Gly427=) n.2663G= n.2974G= | |
| 2 | g.218395030G>T | CA350550923 | SLC11A1 | c.1648G>T (p.Gly550Cys) c.*1230G>T (n.*1230G>T) n.2124G>T n.4775G>T c.1447G>T (p.Gly483Cys) c.1294G>T (p.Gly432Cys) c.1201G>T (p.Gly401Cys) c.1321G>T (p.Gly441Cys) c.1525G>T (p.Gly509Cys) c.1279G>T (p.Gly427Cys) n.2663G>T n.2974G>T | |
| 2 | g.218395031G>A | CA350550925 | SLC11A1 | c.1649G>A (p.Gly550Asp) c.*1231G>A (n.*1231G>A) n.2125G>A n.4776G>A c.1448G>A (p.Gly483Asp) c.1295G>A (p.Gly432Asp) c.1202G>A (p.Gly401Asp) c.1322G>A (p.Gly441Asp) c.1526G>A (p.Gly509Asp) c.1280G>A (p.Gly427Asp) n.2664G>A n.2975G>A | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.218395031G>C | CA350550927 | SLC11A1 | c.1649G>C (p.Gly550Ala) c.*1231G>C (n.*1231G>C) n.2125G>C n.4776G>C c.1448G>C (p.Gly483Ala) c.1295G>C (p.Gly432Ala) c.1202G>C (p.Gly401Ala) c.1322G>C (p.Gly441Ala) c.1526G>C (p.Gly509Ala) c.1280G>C (p.Gly427Ala) n.2664G>C n.2975G>C | dbSNP |
| 2 | g.218395031G= | CA1328738774 | SLC11A1 | c.1649G= (p.Gly550=) c.*1231G= (n.*1231G=) n.2125G= n.4776G= c.1448G= (p.Gly483=) c.1295G= (p.Gly432=) c.1202G= (p.Gly401=) c.1322G= (p.Gly441=) c.1526G= (p.Gly509=) c.1280G= (p.Gly427=) n.2664G= n.2975G= | |
| 2 | g.218395031G>T | CA350550928 | SLC11A1 | c.1649G>T (p.Gly550Val) c.*1231G>T (n.*1231G>T) n.2125G>T n.4776G>T c.1448G>T (p.Gly483Val) c.1295G>T (p.Gly432Val) c.1202G>T (p.Gly401Val) c.1322G>T (p.Gly441Val) c.1526G>T (p.Gly509Val) c.1280G>T (p.Gly427Val) n.2664G>T n.2975G>T | gnomAD v4 |
| 2 | g.218395032C>A | CA431224275 | SLC11A1 | c.1650C>A (p.Gly550=) c.*1232C>A (n.*1232C>A) n.2126C>A n.4777C>A c.1449C>A (p.Gly483=) c.1296C>A (p.Gly432=) c.1203C>A (p.Gly401=) c.1323C>A (p.Gly441=) c.1527C>A (p.Gly509=) c.1281C>A (p.Gly427=) n.2665C>A n.2976C>A | gnomAD v4 |
| 2 | g.218395032C>G | CA431224276 | SLC11A1 | c.1650C>G (p.Gly550=) c.*1232C>G (n.*1232C>G) n.2126C>G n.4777C>G c.1449C>G (p.Gly483=) c.1296C>G (p.Gly432=) c.1203C>G (p.Gly401=) c.1323C>G (p.Gly441=) c.1527C>G (p.Gly509=) c.1281C>G (p.Gly427=) n.2665C>G n.2976C>G | |
| 2 | g.218395032C>T | CA431224278 | SLC11A1 | c.1650C>T (p.Gly550=) c.*1232C>T (n.*1232C>T) n.2126C>T n.4777C>T c.1449C>T (p.Gly483=) c.1296C>T (p.Gly432=) c.1203C>T (p.Gly401=) c.1323C>T (p.Gly441=) c.1527C>T (p.Gly509=) c.1281C>T (p.Gly427=) n.2665C>T n.2976C>T | gnomAD v4 |
| 2 | g.218395033T>A | CA350550931 | SLC11A1 | c.1651T>A (p.Ter551Lys) c.*1233T>A (n.*1233T>A) n.2127T>A n.4778T>A c.1450T>A (p.Ter484Lys) c.1297T>A (p.Ter433Lys) c.1204T>A (p.Ter402Lys) c.1324T>A (p.Ter442Lys) c.1528T>A (p.Ter510Lys) c.1282T>A (p.Ter428Lys) n.2666T>A n.2977T>A | |
| 2 | g.218395033T>C | CA350550932 | SLC11A1 | c.1651T>C (p.Ter551Gln) c.*1233T>C (n.*1233T>C) n.2127T>C n.4778T>C c.1450T>C (p.Ter484Gln) c.1297T>C (p.Ter433Gln) c.1204T>C (p.Ter402Gln) c.1324T>C (p.Ter442Gln) c.1528T>C (p.Ter510Gln) c.1282T>C (p.Ter428Gln) n.2666T>C n.2977T>C | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.218395033T>G | CA350550934 | SLC11A1 | c.1651T>G (p.Ter551Glu) c.*1233T>G (n.*1233T>G) n.2127T>G n.4778T>G c.1450T>G (p.Ter484Glu) c.1297T>G (p.Ter433Glu) c.1204T>G (p.Ter402Glu) c.1324T>G (p.Ter442Glu) c.1528T>G (p.Ter510Glu) c.1282T>G (p.Ter428Glu) n.2666T>G n.2977T>G | |
| 2 | g.218395033T= | CA1328738775 | SLC11A1 | c.1651T= (p.Ter551=) c.*1233T= (n.*1233T=) n.2127T= n.4778T= c.1450T= (p.Ter484=) c.1297T= (p.Ter433=) c.1204T= (p.Ter402=) c.1324T= (p.Ter442=) c.1528T= (p.Ter510=) c.1282T= (p.Ter428=) n.2666T= n.2977T= | |
| 2 | g.218395034A>C | CA350550940 | SLC11A1 | c.1652A>C (p.Ter551Ser) c.*1234A>C (n.*1234A>C) n.2128A>C n.4779A>C c.1451A>C (p.Ter484Ser) c.1298A>C (p.Ter433Ser) c.1205A>C (p.Ter402Ser) c.1325A>C (p.Ter442Ser) c.1529A>C (p.Ter510Ser) c.1283A>C (p.Ter428Ser) n.2667A>C n.2978A>C | |
| 2 | g.218395034A>G | CA350550936 | SLC11A1 | c.1652A>G (p.Ter551Trp) c.*1234A>G (n.*1234A>G) n.2128A>G n.4779A>G c.1451A>G (p.Ter484Trp) c.1298A>G (p.Ter433Trp) c.1205A>G (p.Ter402Trp) c.1325A>G (p.Ter442Trp) c.1529A>G (p.Ter510Trp) c.1283A>G (p.Ter428Trp) n.2667A>G n.2978A>G |