| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.113399313G>A | CA477042508 | ANKK1 | c.1344G>A (p.Leu448=) c.1377G>A (p.Leu459=) c.1347G>A (p.Leu449=) c.1155G>A (p.Leu385=) c.1374G>A (p.Leu458=) | gnomAD v4 |
| 11 | g.113399313G>C | CA477042510 | ANKK1 | c.1344G>C (p.Leu448=) c.1377G>C (p.Leu459=) c.1347G>C (p.Leu449=) c.1155G>C (p.Leu385=) c.1374G>C (p.Leu458=) | |
| 11 | g.113399313G= | CA2001152051 | ANKK1 | c.1344G= (p.Leu448=) c.1377G= (p.Leu459=) c.1347G= (p.Leu449=) c.1155G= (p.Leu385=) c.1374G= (p.Leu458=) | |
| 11 | g.113399313G>T | CA477042513 | ANKK1 | c.1344G>T (p.Leu448=) c.1377G>T (p.Leu459=) c.1347G>T (p.Leu449=) c.1155G>T (p.Leu385=) c.1374G>T (p.Leu458=) | dbSNP gnomAD v4 |
| 11 | g.113399314G>A | CA382644870 | ANKK1 | c.1345G>A (p.Asp449Asn) c.1378G>A (p.Asp460Asn) c.1348G>A (p.Asp450Asn) c.1156G>A (p.Asp386Asn) c.1375G>A (p.Asp459Asn) | dbSNP gnomAD v2 |
| 11 | g.113399314G>C | CA382644872 | ANKK1 | c.1345G>C (p.Asp449His) c.1378G>C (p.Asp460His) c.1348G>C (p.Asp450His) c.1156G>C (p.Asp386His) c.1375G>C (p.Asp459His) | |
| 11 | g.113399314G= | CA2001152053 | ANKK1 | c.1345G= (p.Asp449=) c.1378G= (p.Asp460=) c.1348G= (p.Asp450=) c.1156G= (p.Asp386=) c.1375G= (p.Asp459=) | |
| 11 | g.113399314G>T | CA382644874 | ANKK1 | c.1345G>T (p.Asp449Tyr) c.1378G>T (p.Asp460Tyr) c.1348G>T (p.Asp450Tyr) c.1156G>T (p.Asp386Tyr) c.1375G>T (p.Asp459Tyr) | |
| 11 | g.113399315A= | CA2001152057 | ANKK1 | c.1346A= (p.Asp449=) c.1379A= (p.Asp460=) c.1349A= (p.Asp450=) c.1157A= (p.Asp386=) c.1376A= (p.Asp459=) | |
| 11 | g.113399315A>C | CA382644876 | ANKK1 | c.1346A>C (p.Asp449Ala) c.1379A>C (p.Asp460Ala) c.1349A>C (p.Asp450Ala) c.1157A>C (p.Asp386Ala) c.1376A>C (p.Asp459Ala) | |
| 11 | g.113399315A>G | CA382644878 | ANKK1 | c.1346A>G (p.Asp449Gly) c.1379A>G (p.Asp460Gly) c.1349A>G (p.Asp450Gly) c.1157A>G (p.Asp386Gly) c.1376A>G (p.Asp459Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399315A>T | CA382644880 | ANKK1 | c.1346A>T (p.Asp449Val) c.1379A>T (p.Asp460Val) c.1349A>T (p.Asp450Val) c.1157A>T (p.Asp386Val) c.1376A>T (p.Asp459Val) | |
| 11 | g.113399316C>A | CA382644882 | ANKK1 | c.1347C>A (p.Asp449Glu) c.1380C>A (p.Asp460Glu) c.1350C>A (p.Asp450Glu) c.1158C>A (p.Asp386Glu) c.1377C>A (p.Asp459Glu) | |
| 11 | g.113399316C= | CA2001152060 | ANKK1 | c.1347C= (p.Asp449=) c.1380C= (p.Asp460=) c.1350C= (p.Asp450=) c.1158C= (p.Asp386=) c.1377C= (p.Asp459=) | |
| 11 | g.113399316C>G | CA382644884 | ANKK1 | c.1347C>G (p.Asp449Glu) c.1380C>G (p.Asp460Glu) c.1350C>G (p.Asp450Glu) c.1158C>G (p.Asp386Glu) c.1377C>G (p.Asp459Glu) | |
| 11 | g.113399316C>T | CA477042516 | ANKK1 | c.1347C>T (p.Asp449=) c.1380C>T (p.Asp460=) c.1350C>T (p.Asp450=) c.1158C>T (p.Asp386=) c.1377C>T (p.Asp459=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399317C>A | CA382644886 | ANKK1 | c.1348C>A (p.His450Asn) c.1381C>A (p.His461Asn) c.1351C>A (p.His451Asn) c.1159C>A (p.His387Asn) c.1378C>A (p.His460Asn) | gnomAD v4 |
| 11 | g.113399317C= | CA2001152065 | ANKK1 | c.1348C= (p.His450=) c.1381C= (p.His461=) c.1351C= (p.His451=) c.1159C= (p.His387=) c.1378C= (p.His460=) | |
| 11 | g.113399317C>G | CA382644889 | ANKK1 | c.1348C>G (p.His450Asp) c.1381C>G (p.His461Asp) c.1351C>G (p.His451Asp) c.1159C>G (p.His387Asp) c.1378C>G (p.His460Asp) | gnomAD v4 |
| 11 | g.113399317C>T | CA6280929 | ANKK1 | c.1348C>T (p.His450Tyr) c.1381C>T (p.His461Tyr) c.1351C>T (p.His451Tyr) c.1159C>T (p.His387Tyr) c.1378C>T (p.His460Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399318A>C | CA382644897 | ANKK1 | c.1349A>C (p.His450Pro) c.1382A>C (p.His461Pro) c.1352A>C (p.His451Pro) c.1160A>C (p.His387Pro) c.1379A>C (p.His460Pro) | |
| 11 | g.113399318A>G | CA382644895 | ANKK1 | c.1349A>G (p.His450Arg) c.1382A>G (p.His461Arg) c.1352A>G (p.His451Arg) c.1160A>G (p.His387Arg) c.1379A>G (p.His460Arg) | |
| 11 | g.113399318A>T | CA382644893 | ANKK1 | c.1349A>T (p.His450Leu) c.1382A>T (p.His461Leu) c.1352A>T (p.His451Leu) c.1160A>T (p.His387Leu) c.1379A>T (p.His460Leu) | |
| 11 | g.113399319C>A | CA382644899 | ANKK1 | c.1350C>A (p.His450Gln) c.1383C>A (p.His461Gln) c.1353C>A (p.His451Gln) c.1161C>A (p.His387Gln) c.1380C>A (p.His460Gln) | gnomAD v4 |
| 11 | g.113399319C= | CA2001152071 | ANKK1 | c.1350C= (p.His450=) c.1383C= (p.His461=) c.1353C= (p.His451=) c.1161C= (p.His387=) c.1380C= (p.His460=) | |
| 11 | g.113399319C>G | CA382644901 | ANKK1 | c.1350C>G (p.His450Gln) c.1383C>G (p.His461Gln) c.1353C>G (p.His451Gln) c.1161C>G (p.His387Gln) c.1380C>G (p.His460Gln) | gnomAD v4 |
| 11 | g.113399319C>T | CA6280930 | ANKK1 | c.1350C>T (p.His450=) c.1383C>T (p.His461=) c.1353C>T (p.His451=) c.1161C>T (p.His387=) c.1380C>T (p.His460=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399320G>A | CA6280931 | ANKK1 | c.1351G>A (p.Gly451Arg) c.1384G>A (p.Gly462Arg) c.1354G>A (p.Gly452Arg) c.1162G>A (p.Gly388Arg) c.1381G>A (p.Gly461Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399320G>C | CA382644905 | ANKK1 | c.1351G>C (p.Gly451Arg) c.1384G>C (p.Gly462Arg) c.1354G>C (p.Gly452Arg) c.1162G>C (p.Gly388Arg) c.1381G>C (p.Gly461Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399320G= | CA2001152076 | ANKK1 | c.1351G= (p.Gly451=) c.1384G= (p.Gly462=) c.1354G= (p.Gly452=) c.1162G= (p.Gly388=) c.1381G= (p.Gly461=) | |
| 11 | g.113399320G>T | CA382644906 | ANKK1 | c.1351G>T (p.Gly451Trp) c.1384G>T (p.Gly462Trp) c.1354G>T (p.Gly452Trp) c.1162G>T (p.Gly388Trp) c.1381G>T (p.Gly461Trp) | gnomAD v4 |
| 11 | g.113399323del | CA2616032850 | ANKK1 | c.1354del (p.Ala452ProfsTer?) c.1387del (p.Ala463ProfsTer?) c.1357del (p.Ala453ProfsTer?) c.1165del (p.Ala389ProfsTer?) c.1384del (p.Ala462ProfsTer?) | gnomAD v4 |
| 11 | g.113399321G>A | CA382644908 | ANKK1 | c.1352G>A (p.Gly451Glu) c.1385G>A (p.Gly462Glu) c.1355G>A (p.Gly452Glu) c.1163G>A (p.Gly388Glu) c.1382G>A (p.Gly461Glu) | gnomAD v4 |
| 11 | g.113399321G>C | CA382644910 | ANKK1 | c.1352G>C (p.Gly451Ala) c.1385G>C (p.Gly462Ala) c.1355G>C (p.Gly452Ala) c.1163G>C (p.Gly388Ala) c.1382G>C (p.Gly461Ala) | |
| 11 | g.113399321G>T | CA382644912 | ANKK1 | c.1352G>T (p.Gly451Val) c.1385G>T (p.Gly462Val) c.1355G>T (p.Gly452Val) c.1163G>T (p.Gly388Val) c.1382G>T (p.Gly461Val) | |
| 11 | g.113399322G>A | CA477042524 | ANKK1 | c.1353G>A (p.Gly451=) c.1386G>A (p.Gly462=) c.1356G>A (p.Gly452=) c.1164G>A (p.Gly388=) c.1383G>A (p.Gly461=) | gnomAD v4 |
| 11 | g.113399322G>C | CA477042525 | ANKK1 | c.1353G>C (p.Gly451=) c.1386G>C (p.Gly462=) c.1356G>C (p.Gly452=) c.1164G>C (p.Gly388=) c.1383G>C (p.Gly461=) | |
| 11 | g.113399322G>T | CA477042526 | ANKK1 | c.1353G>T (p.Gly451=) c.1386G>T (p.Gly462=) c.1356G>T (p.Gly452=) c.1164G>T (p.Gly388=) c.1383G>T (p.Gly461=) | |
| 11 | g.113399323G>A | CA382644914 | ANKK1 | c.1354G>A (p.Ala452Thr) c.1387G>A (p.Ala463Thr) c.1357G>A (p.Ala453Thr) c.1165G>A (p.Ala389Thr) c.1384G>A (p.Ala462Thr) | gnomAD v4 |
| 11 | g.113399323G>C | CA382644916 | ANKK1 | c.1354G>C (p.Ala452Pro) c.1387G>C (p.Ala463Pro) c.1357G>C (p.Ala453Pro) c.1165G>C (p.Ala389Pro) c.1384G>C (p.Ala462Pro) | |
| 11 | g.113399323G>T | CA382644918 | ANKK1 | c.1354G>T (p.Ala452Ser) c.1387G>T (p.Ala463Ser) c.1357G>T (p.Ala453Ser) c.1165G>T (p.Ala389Ser) c.1384G>T (p.Ala462Ser) | |
| 11 | g.113399324C>A | CA382644920 | ANKK1 | c.1355C>A (p.Ala452Asp) c.1388C>A (p.Ala463Asp) c.1358C>A (p.Ala453Asp) c.1166C>A (p.Ala389Asp) c.1385C>A (p.Ala462Asp) | gnomAD v4 |
| 11 | g.113399324C= | CA2001152081 | ANKK1 | c.1355C= (p.Ala452=) c.1388C= (p.Ala463=) c.1358C= (p.Ala453=) c.1166C= (p.Ala389=) c.1385C= (p.Ala462=) | |
| 11 | g.113399324C>G | CA382644922 | ANKK1 | c.1355C>G (p.Ala452Gly) c.1388C>G (p.Ala463Gly) c.1358C>G (p.Ala453Gly) c.1166C>G (p.Ala389Gly) c.1385C>G (p.Ala462Gly) | gnomAD v4 |
| 11 | g.113399324C>T | CA382644924 | ANKK1 | c.1355C>T (p.Ala452Val) c.1388C>T (p.Ala463Val) c.1358C>T (p.Ala453Val) c.1166C>T (p.Ala389Val) c.1385C>T (p.Ala462Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399325C>A | CA477042530 | ANKK1 | c.1356C>A (p.Ala452=) c.1389C>A (p.Ala463=) c.1359C>A (p.Ala453=) c.1167C>A (p.Ala389=) c.1386C>A (p.Ala462=) | gnomAD v4 |
| 11 | g.113399325C>G | CA477042535 | ANKK1 | c.1356C>G (p.Ala452=) c.1389C>G (p.Ala463=) c.1359C>G (p.Ala453=) c.1167C>G (p.Ala389=) c.1386C>G (p.Ala462=) | |
| 11 | g.113399325C>T | CA477042532 | ANKK1 | c.1356C>T (p.Ala452=) c.1389C>T (p.Ala463=) c.1359C>T (p.Ala453=) c.1167C>T (p.Ala389=) c.1386C>T (p.Ala462=) | |
| 11 | g.113399325_113399326delinsCT | CA2001152087 | ANKK1 | c.1356_1357delinsCT (p.Ala452=) c.1389_1390delinsCT (p.Ala463=) c.1359_1360delinsCT (p.Ala453=) c.1167_1168delinsCT (p.Ala389=) c.1386_1387delinsCT (p.Ala462=) | |
| 11 | g.113399326del | CA6280932 | ANKK1 | c.1357del (p.Cys453ValfsTer?) c.1390del (p.Cys464ValfsTer?) c.1360del (p.Cys454ValfsTer?) c.1168del (p.Cys390ValfsTer?) c.1387del (p.Cys463ValfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113399326T>A | CA382644927 | ANKK1 | c.1357T>A (p.Cys453Ser) c.1390T>A (p.Cys464Ser) c.1360T>A (p.Cys454Ser) c.1168T>A (p.Cys390Ser) c.1387T>A (p.Cys463Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399326T>C | CA382644933 | ANKK1 | c.1357T>C (p.Cys453Arg) c.1390T>C (p.Cys464Arg) c.1360T>C (p.Cys454Arg) c.1168T>C (p.Cys390Arg) c.1387T>C (p.Cys463Arg) | gnomAD v4 |
| 11 | g.113399326T>G | CA382644931 | ANKK1 | c.1357T>G (p.Cys453Gly) c.1390T>G (p.Cys464Gly) c.1360T>G (p.Cys454Gly) c.1168T>G (p.Cys390Gly) c.1387T>G (p.Cys463Gly) | |
| 11 | g.113399326T= | CA2001152093 | ANKK1 | c.1357T= (p.Cys453=) c.1390T= (p.Cys464=) c.1360T= (p.Cys454=) c.1168T= (p.Cys390=) c.1387T= (p.Cys463=) | |
| 11 | g.113399327G>A | CA382644936 | ANKK1 | c.1358G>A (p.Cys453Tyr) c.1391G>A (p.Cys464Tyr) c.1361G>A (p.Cys454Tyr) c.1169G>A (p.Cys390Tyr) c.1388G>A (p.Cys463Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399327G>C | CA382644938 | ANKK1 | c.1358G>C (p.Cys453Ser) c.1391G>C (p.Cys464Ser) c.1361G>C (p.Cys454Ser) c.1169G>C (p.Cys390Ser) c.1388G>C (p.Cys463Ser) | dbSNP gnomAD v4 |
| 11 | g.113399327G= | CA2001152095 | ANKK1 | c.1358G= (p.Cys453=) c.1391G= (p.Cys464=) c.1361G= (p.Cys454=) c.1169G= (p.Cys390=) c.1388G= (p.Cys463=) | |
| 11 | g.113399327G>T | CA382644940 | ANKK1 | c.1358G>T (p.Cys453Phe) c.1391G>T (p.Cys464Phe) c.1361G>T (p.Cys454Phe) c.1169G>T (p.Cys390Phe) c.1388G>T (p.Cys463Phe) | |
| 11 | g.113399328T>A | CA382644942 | ANKK1 | c.1359T>A (p.Cys453Ter) c.1392T>A (p.Cys464Ter) c.1362T>A (p.Cys454Ter) c.1170T>A (p.Cys390Ter) c.1389T>A (p.Cys463Ter) | |
| 11 | g.113399328T>C | CA477042537 | ANKK1 | c.1359T>C (p.Cys453=) c.1392T>C (p.Cys464=) c.1362T>C (p.Cys454=) c.1170T>C (p.Cys390=) c.1389T>C (p.Cys463=) | |
| 11 | g.113399328T>G | CA382644944 | ANKK1 | c.1359T>G (p.Cys453Trp) c.1392T>G (p.Cys464Trp) c.1362T>G (p.Cys454Trp) c.1170T>G (p.Cys390Trp) c.1389T>G (p.Cys463Trp) | |
| 11 | g.113399328_113399329delinsTG | CA2001152097 | ANKK1 | c.1359_1360delinsTG (p.Cys453=) c.1392_1393delinsTG (p.Cys464=) c.1362_1363delinsTG (p.Cys454=) c.1170_1171delinsTG (p.Cys390=) c.1389_1390delinsTG (p.Cys463=) | |
| 11 | g.113399329del | CA671838197 | ANKK1 | c.1360del (p.Val454TrpfsTer?) c.1393del (p.Val465TrpfsTer?) c.1363del (p.Val455TrpfsTer?) c.1171del (p.Val391TrpfsTer?) c.1390del (p.Val464TrpfsTer?) | dbSNP |
| 11 | g.113399329G>A | CA382644946 | ANKK1 | c.1360G>A (p.Val454Met) c.1393G>A (p.Val465Met) c.1363G>A (p.Val455Met) c.1171G>A (p.Val391Met) c.1390G>A (p.Val464Met) | gnomAD v4 |
| 11 | g.113399329G>C | CA382644948 | ANKK1 | c.1360G>C (p.Val454Leu) c.1393G>C (p.Val465Leu) c.1363G>C (p.Val455Leu) c.1171G>C (p.Val391Leu) c.1390G>C (p.Val464Leu) | |
| 11 | g.113399329G>T | CA382644950 | ANKK1 | c.1360G>T (p.Val454Leu) c.1393G>T (p.Val465Leu) c.1363G>T (p.Val455Leu) c.1171G>T (p.Val391Leu) c.1390G>T (p.Val464Leu) | gnomAD v4 |
| 11 | g.113399330T>A | CA382644954 | ANKK1 | c.1361T>A (p.Val454Glu) c.1394T>A (p.Val465Glu) c.1364T>A (p.Val455Glu) c.1172T>A (p.Val391Glu) c.1391T>A (p.Val464Glu) | |
| 11 | g.113399330T>C | CA382644957 | ANKK1 | c.1361T>C (p.Val454Ala) c.1394T>C (p.Val465Ala) c.1364T>C (p.Val455Ala) c.1172T>C (p.Val391Ala) c.1391T>C (p.Val464Ala) | |
| 11 | g.113399330T>G | CA382644953 | ANKK1 | c.1361T>G (p.Val454Gly) c.1394T>G (p.Val465Gly) c.1364T>G (p.Val455Gly) c.1172T>G (p.Val391Gly) c.1391T>G (p.Val464Gly) | |
| 11 | g.113399331G>A | CA477042539 | ANKK1 | c.1362G>A (p.Val454=) c.1395G>A (p.Val465=) c.1365G>A (p.Val455=) c.1173G>A (p.Val391=) c.1392G>A (p.Val464=) | |
| 11 | g.113399331G>C | CA477042540 | ANKK1 | c.1362G>C (p.Val454=) c.1395G>C (p.Val465=) c.1365G>C (p.Val455=) c.1173G>C (p.Val391=) c.1392G>C (p.Val464=) | |
| 11 | g.113399331G>T | CA477042541 | ANKK1 | c.1362G>T (p.Val454=) c.1395G>T (p.Val465=) c.1365G>T (p.Val455=) c.1173G>T (p.Val391=) c.1392G>T (p.Val464=) | |
| 11 | g.113399332G>A | CA382644959 | ANKK1 | c.1363G>A (p.Asp455Asn) c.1396G>A (p.Asp466Asn) c.1366G>A (p.Asp456Asn) c.1174G>A (p.Asp392Asn) c.1393G>A (p.Asp465Asn) | gnomAD v4 |
| 11 | g.113399332G>C | CA382644961 | ANKK1 | c.1363G>C (p.Asp455His) c.1396G>C (p.Asp466His) c.1366G>C (p.Asp456His) c.1174G>C (p.Asp392His) c.1393G>C (p.Asp465His) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399332G= | CA2001152100 | ANKK1 | c.1363G= (p.Asp455=) c.1396G= (p.Asp466=) c.1366G= (p.Asp456=) c.1174G= (p.Asp392=) c.1393G= (p.Asp465=) | |
| 11 | g.113399332G>T | CA382644963 | ANKK1 | c.1363G>T (p.Asp455Tyr) c.1396G>T (p.Asp466Tyr) c.1366G>T (p.Asp456Tyr) c.1174G>T (p.Asp392Tyr) c.1393G>T (p.Asp465Tyr) | gnomAD v4 |
| 11 | g.113399333A>C | CA382644966 | ANKK1 | c.1364A>C (p.Asp455Ala) c.1397A>C (p.Asp466Ala) c.1367A>C (p.Asp456Ala) c.1175A>C (p.Asp392Ala) c.1394A>C (p.Asp465Ala) | |
| 11 | g.113399333A>G | CA382644968 | ANKK1 | c.1364A>G (p.Asp455Gly) c.1397A>G (p.Asp466Gly) c.1367A>G (p.Asp456Gly) c.1175A>G (p.Asp392Gly) c.1394A>G (p.Asp465Gly) | |
| 11 | g.113399333A>T | CA382644970 | ANKK1 | c.1364A>T (p.Asp455Val) c.1397A>T (p.Asp466Val) c.1367A>T (p.Asp456Val) c.1175A>T (p.Asp392Val) c.1394A>T (p.Asp465Val) | |
| 11 | g.113399334T>A | CA382644972 | ANKK1 | c.1365T>A (p.Asp455Glu) c.1398T>A (p.Asp466Glu) c.1368T>A (p.Asp456Glu) c.1176T>A (p.Asp392Glu) c.1395T>A (p.Asp465Glu) | |
| 11 | g.113399334T>C | CA477042544 | ANKK1 | c.1365T>C (p.Asp455=) c.1398T>C (p.Asp466=) c.1368T>C (p.Asp456=) c.1176T>C (p.Asp392=) c.1395T>C (p.Asp465=) | |
| 11 | g.113399334T>G | CA382644974 | ANKK1 | c.1365T>G (p.Asp455Glu) c.1398T>G (p.Asp466Glu) c.1368T>G (p.Asp456Glu) c.1176T>G (p.Asp392Glu) c.1395T>G (p.Asp465Glu) | |
| 11 | g.113399335G>A | CA382644975 | ANKK1 | c.1366G>A (p.Ala456Thr) c.1399G>A (p.Ala467Thr) c.1369G>A (p.Ala457Thr) c.1177G>A (p.Ala393Thr) c.1396G>A (p.Ala466Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399335G>C | CA382644976 | ANKK1 | c.1366G>C (p.Ala456Pro) c.1399G>C (p.Ala467Pro) c.1369G>C (p.Ala457Pro) c.1177G>C (p.Ala393Pro) c.1396G>C (p.Ala466Pro) | |
| 11 | g.113399335G= | CA2001152102 | ANKK1 | c.1366G= (p.Ala456=) c.1399G= (p.Ala467=) c.1369G= (p.Ala457=) c.1177G= (p.Ala393=) c.1396G= (p.Ala466=) | |
| 11 | g.113399335G>T | CA382644978 | ANKK1 | c.1366G>T (p.Ala456Ser) c.1399G>T (p.Ala467Ser) c.1369G>T (p.Ala457Ser) c.1177G>T (p.Ala393Ser) c.1396G>T (p.Ala466Ser) | gnomAD v4 |
| 11 | g.113399336C>A | CA382644982 | ANKK1 | c.1367C>A (p.Ala456Asp) c.1400C>A (p.Ala467Asp) c.1370C>A (p.Ala457Asp) c.1178C>A (p.Ala393Asp) c.1397C>A (p.Ala466Asp) | gnomAD v4 |
| 11 | g.113399336C>G | CA382644984 | ANKK1 | c.1367C>G (p.Ala456Gly) c.1400C>G (p.Ala467Gly) c.1370C>G (p.Ala457Gly) c.1178C>G (p.Ala393Gly) c.1397C>G (p.Ala466Gly) | |
| 11 | g.113399336C>T | CA382644981 | ANKK1 | c.1367C>T (p.Ala456Val) c.1400C>T (p.Ala467Val) c.1370C>T (p.Ala457Val) c.1178C>T (p.Ala393Val) c.1397C>T (p.Ala466Val) | gnomAD v4 |
| 11 | g.113399337C>A | CA477042545 | ANKK1 | c.1368C>A (p.Ala456=) c.1401C>A (p.Ala467=) c.1371C>A (p.Ala457=) c.1179C>A (p.Ala393=) c.1398C>A (p.Ala466=) | |
| 11 | g.113399337C>G | CA477042547 | ANKK1 | c.1368C>G (p.Ala456=) c.1401C>G (p.Ala467=) c.1371C>G (p.Ala457=) c.1179C>G (p.Ala393=) c.1398C>G (p.Ala466=) | gnomAD v4 |
| 11 | g.113399337C>T | CA477042546 | ANKK1 | c.1368C>T (p.Ala456=) c.1401C>T (p.Ala467=) c.1371C>T (p.Ala457=) c.1179C>T (p.Ala393=) c.1398C>T (p.Ala466=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113399338C>A | CA382644987 | ANKK1 | c.1369C>A (p.Gln457Lys) c.1402C>A (p.Gln468Lys) c.1372C>A (p.Gln458Lys) c.1180C>A (p.Gln394Lys) c.1399C>A (p.Gln467Lys) | gnomAD v4 |
| 11 | g.113399338C= | CA2001152105 | ANKK1 | c.1369C= (p.Gln457=) c.1402C= (p.Gln468=) c.1372C= (p.Gln458=) c.1180C= (p.Gln394=) c.1399C= (p.Gln467=) | |
| 11 | g.113399338C>G | CA382644988 | ANKK1 | c.1369C>G (p.Gln457Glu) c.1402C>G (p.Gln468Glu) c.1372C>G (p.Gln458Glu) c.1180C>G (p.Gln394Glu) c.1399C>G (p.Gln467Glu) | |
| 11 | g.113399338C>T | CA382644990 | ANKK1 | c.1369C>T (p.Gln457Ter) c.1402C>T (p.Gln468Ter) c.1372C>T (p.Gln458Ter) c.1180C>T (p.Gln394Ter) c.1399C>T (p.Gln467Ter) | dbSNP gnomAD v4 |
| 11 | g.113399339A= | CA2001152107 | ANKK1 | c.1370A= (p.Gln457=) c.1403A= (p.Gln468=) c.1373A= (p.Gln458=) c.1181A= (p.Gln394=) c.1400A= (p.Gln467=) | |
| 11 | g.113399339A>C | CA382644993 | ANKK1 | c.1370A>C (p.Gln457Pro) c.1403A>C (p.Gln468Pro) c.1373A>C (p.Gln458Pro) c.1181A>C (p.Gln394Pro) c.1400A>C (p.Gln467Pro) | |
| 11 | g.113399339A>G | CA228615249 | ANKK1 | c.1370A>G (p.Gln457Arg) c.1403A>G (p.Gln468Arg) c.1373A>G (p.Gln458Arg) c.1181A>G (p.Gln394Arg) c.1400A>G (p.Gln467Arg) | dbSNP |
| 11 | g.113399339A>T | CA382644996 | ANKK1 | c.1370A>T (p.Gln457Leu) c.1403A>T (p.Gln468Leu) c.1373A>T (p.Gln458Leu) c.1181A>T (p.Gln394Leu) c.1400A>T (p.Gln467Leu) | |
| 11 | g.113399340G>A | CA477042553 | ANKK1 | c.1371G>A (p.Gln457=) c.1404G>A (p.Gln468=) c.1374G>A (p.Gln458=) c.1182G>A (p.Gln394=) c.1401G>A (p.Gln467=) | |
| 11 | g.113399340G>C | CA382644998 | ANKK1 | c.1371G>C (p.Gln457His) c.1404G>C (p.Gln468His) c.1374G>C (p.Gln458His) c.1182G>C (p.Gln394His) c.1401G>C (p.Gln467His) | |
| 11 | g.113399340G>T | CA382645000 | ANKK1 | c.1371G>T (p.Gln457His) c.1404G>T (p.Gln468His) c.1374G>T (p.Gln458His) c.1182G>T (p.Gln394His) c.1401G>T (p.Gln467His) | |
| 11 | g.113399341G>A | CA382645002 | ANKK1 | c.1372G>A (p.Glu458Lys) c.1405G>A (p.Glu469Lys) c.1375G>A (p.Glu459Lys) c.1183G>A (p.Glu395Lys) c.1402G>A (p.Glu468Lys) | COSMIC |
| 11 | g.113399341G>C | CA382645004 | ANKK1 | c.1372G>C (p.Glu458Gln) c.1405G>C (p.Glu469Gln) c.1375G>C (p.Glu459Gln) c.1183G>C (p.Glu395Gln) c.1402G>C (p.Glu468Gln) | |
| 11 | g.113399341G>T | CA382645006 | ANKK1 | c.1372G>T (p.Glu458Ter) c.1405G>T (p.Glu469Ter) c.1375G>T (p.Glu459Ter) c.1183G>T (p.Glu395Ter) c.1402G>T (p.Glu468Ter) | |
| 11 | g.113399342A= | CA2001152110 | ANKK1 | c.1373A= (p.Glu458=) c.1406A= (p.Glu469=) c.1376A= (p.Glu459=) c.1184A= (p.Glu395=) c.1403A= (p.Glu468=) | |
| 11 | g.113399342A>C | CA382645008 | ANKK1 | c.1373A>C (p.Glu458Ala) c.1406A>C (p.Glu469Ala) c.1376A>C (p.Glu459Ala) c.1184A>C (p.Glu395Ala) c.1403A>C (p.Glu468Ala) | |
| 11 | g.113399342A>G | CA6280933 | ANKK1 | c.1373A>G (p.Glu458Gly) c.1406A>G (p.Glu469Gly) c.1376A>G (p.Glu459Gly) c.1184A>G (p.Glu395Gly) c.1403A>G (p.Glu468Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399342A>T | CA382645010 | ANKK1 | c.1373A>T (p.Glu458Val) c.1406A>T (p.Glu469Val) c.1376A>T (p.Glu459Val) c.1184A>T (p.Glu395Val) c.1403A>T (p.Glu468Val) | |
| 11 | g.113399343A>C | CA382645014 | ANKK1 | c.1374A>C (p.Glu458Asp) c.1407A>C (p.Glu469Asp) c.1377A>C (p.Glu459Asp) c.1185A>C (p.Glu395Asp) c.1404A>C (p.Glu468Asp) | |
| 11 | g.113399343A>G | CA477042558 | ANKK1 | c.1374A>G (p.Glu458=) c.1407A>G (p.Glu469=) c.1377A>G (p.Glu459=) c.1185A>G (p.Glu395=) c.1404A>G (p.Glu468=) | |
| 11 | g.113399343A>T | CA382645013 | ANKK1 | c.1374A>T (p.Glu458Asp) c.1407A>T (p.Glu469Asp) c.1377A>T (p.Glu459Asp) c.1185A>T (p.Glu395Asp) c.1404A>T (p.Glu468Asp) | |
| 11 | g.113399344C>A | CA382645016 | ANKK1 | c.1375C>A (p.Arg459Ser) c.1408C>A (p.Arg470Ser) c.1378C>A (p.Arg460Ser) c.1186C>A (p.Arg396Ser) c.1405C>A (p.Arg469Ser) | gnomAD v4 |
| 11 | g.113399344C= | CA2001152114 | ANKK1 | c.1375C= (p.Arg459=) c.1408C= (p.Arg470=) c.1378C= (p.Arg460=) c.1186C= (p.Arg396=) c.1405C= (p.Arg469=) | |
| 11 | g.113399344C>G | CA382645019 | ANKK1 | c.1375C>G (p.Arg459Gly) c.1408C>G (p.Arg470Gly) c.1378C>G (p.Arg460Gly) c.1186C>G (p.Arg396Gly) c.1405C>G (p.Arg469Gly) | |
| 11 | g.113399344C>T | CA6280934 | ANKK1 | c.1375C>T (p.Arg459Cys) c.1408C>T (p.Arg470Cys) c.1378C>T (p.Arg460Cys) c.1186C>T (p.Arg396Cys) c.1405C>T (p.Arg469Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399345G>A | CA6280936 | ANKK1 | c.1376G>A (p.Arg459His) c.1409G>A (p.Arg470His) c.1379G>A (p.Arg460His) c.1187G>A (p.Arg396His) c.1406G>A (p.Arg469His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399345G>C | CA6280935 | ANKK1 | c.1376G>C (p.Arg459Pro) c.1409G>C (p.Arg470Pro) c.1379G>C (p.Arg460Pro) c.1187G>C (p.Arg396Pro) c.1406G>C (p.Arg469Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399345G= | CA2001152117 | ANKK1 | c.1376G= (p.Arg459=) c.1409G= (p.Arg470=) c.1379G= (p.Arg460=) c.1187G= (p.Arg396=) c.1406G= (p.Arg469=) | |
| 11 | g.113399345G>T | CA382645021 | ANKK1 | c.1376G>T (p.Arg459Leu) c.1409G>T (p.Arg470Leu) c.1379G>T (p.Arg460Leu) c.1187G>T (p.Arg396Leu) c.1406G>T (p.Arg469Leu) | gnomAD v4 |
| 11 | g.113399346T>A | CA477042560 | ANKK1 | c.1377T>A (p.Arg459=) c.1410T>A (p.Arg470=) c.1380T>A (p.Arg460=) c.1188T>A (p.Arg396=) c.1407T>A (p.Arg469=) | |
| 11 | g.113399346T>C | CA477042562 | ANKK1 | c.1377T>C (p.Arg459=) c.1410T>C (p.Arg470=) c.1380T>C (p.Arg460=) c.1188T>C (p.Arg396=) c.1407T>C (p.Arg469=) | |
| 11 | g.113399346T>G | CA477042564 | ANKK1 | c.1377T>G (p.Arg459=) c.1410T>G (p.Arg470=) c.1380T>G (p.Arg460=) c.1188T>G (p.Arg396=) c.1407T>G (p.Arg469=) | |
| 11 | g.113399347G>A | CA382645024 | ANKK1 | c.1378G>A (p.Glu460Lys) c.1411G>A (p.Glu471Lys) c.1381G>A (p.Glu461Lys) c.1189G>A (p.Glu397Lys) c.1408G>A (p.Glu470Lys) | dbSNP gnomAD v2 |
| 11 | g.113399347G>C | CA382645026 | ANKK1 | c.1378G>C (p.Glu460Gln) c.1411G>C (p.Glu471Gln) c.1381G>C (p.Glu461Gln) c.1189G>C (p.Glu397Gln) c.1408G>C (p.Glu470Gln) | |
| 11 | g.113399347G= | CA2001152120 | ANKK1 | c.1378G= (p.Glu460=) c.1411G= (p.Glu471=) c.1381G= (p.Glu461=) c.1189G= (p.Glu397=) c.1408G= (p.Glu470=) | |
| 11 | g.113399347G>T | CA382645028 | ANKK1 | c.1378G>T (p.Glu460Ter) c.1411G>T (p.Glu471Ter) c.1381G>T (p.Glu461Ter) c.1189G>T (p.Glu397Ter) c.1408G>T (p.Glu470Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113399348A>C | CA382645029 | ANKK1 | c.1379A>C (p.Glu460Ala) c.1412A>C (p.Glu471Ala) c.1382A>C (p.Glu461Ala) c.1190A>C (p.Glu397Ala) c.1409A>C (p.Glu470Ala) | gnomAD v4 |
| 11 | g.113399348A>G | CA382645030 | ANKK1 | c.1379A>G (p.Glu460Gly) c.1412A>G (p.Glu471Gly) c.1382A>G (p.Glu461Gly) c.1190A>G (p.Glu397Gly) c.1409A>G (p.Glu470Gly) | |
| 11 | g.113399348A>T | CA382645031 | ANKK1 | c.1379A>T (p.Glu460Val) c.1412A>T (p.Glu471Val) c.1382A>T (p.Glu461Val) c.1190A>T (p.Glu397Val) c.1409A>T (p.Glu470Val) | |
| 11 | g.113399349A>C | CA382645032 | ANKK1 | c.1380A>C (p.Glu460Asp) c.1413A>C (p.Glu471Asp) c.1383A>C (p.Glu461Asp) c.1191A>C (p.Glu397Asp) c.1410A>C (p.Glu470Asp) | |
| 11 | g.113399349A>G | CA477042569 | ANKK1 | c.1380A>G (p.Glu460=) c.1413A>G (p.Glu471=) c.1383A>G (p.Glu461=) c.1191A>G (p.Glu397=) c.1410A>G (p.Glu470=) | gnomAD v4 |
| 11 | g.113399349A>T | CA382645033 | ANKK1 | c.1380A>T (p.Glu460Asp) c.1413A>T (p.Glu471Asp) c.1383A>T (p.Glu461Asp) c.1191A>T (p.Glu397Asp) c.1410A>T (p.Glu470Asp) | |
| 11 | g.113399350G>A | CA382645034 | ANKK1 | c.1381G>A (p.Gly461Arg) c.1414G>A (p.Gly472Arg) c.1384G>A (p.Gly462Arg) c.1192G>A (p.Gly398Arg) c.1411G>A (p.Gly471Arg) | gnomAD v4 |
| 11 | g.113399350G>C | CA382645035 | ANKK1 | c.1381G>C (p.Gly461Arg) c.1414G>C (p.Gly472Arg) c.1384G>C (p.Gly462Arg) c.1192G>C (p.Gly398Arg) c.1411G>C (p.Gly471Arg) | |
| 11 | g.113399350G= | CA2001152124 | ANKK1 | c.1381G= (p.Gly461=) c.1414G= (p.Gly472=) c.1384G= (p.Gly462=) c.1192G= (p.Gly398=) c.1411G= (p.Gly471=) | |
| 11 | g.113399350G>T | CA382645036 | ANKK1 | c.1381G>T (p.Gly461Trp) c.1414G>T (p.Gly472Trp) c.1384G>T (p.Gly462Trp) c.1192G>T (p.Gly398Trp) c.1411G>T (p.Gly471Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113399351G>A | CA382645039 | ANKK1 | c.1382G>A (p.Gly461Glu) c.1415G>A (p.Gly472Glu) c.1385G>A (p.Gly462Glu) c.1193G>A (p.Gly398Glu) c.1412G>A (p.Gly471Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399351G>C | CA382645037 | ANKK1 | c.1382G>C (p.Gly461Ala) c.1415G>C (p.Gly472Ala) c.1385G>C (p.Gly462Ala) c.1193G>C (p.Gly398Ala) c.1412G>C (p.Gly471Ala) | |
| 11 | g.113399351G= | CA2001152128 | ANKK1 | c.1382G= (p.Gly461=) c.1415G= (p.Gly472=) c.1385G= (p.Gly462=) c.1193G= (p.Gly398=) c.1412G= (p.Gly471=) | |
| 11 | g.113399351G>T | CA382645038 | ANKK1 | c.1382G>T (p.Gly461Val) c.1415G>T (p.Gly472Val) c.1385G>T (p.Gly462Val) c.1193G>T (p.Gly398Val) c.1412G>T (p.Gly471Val) | gnomAD v4 |
| 11 | g.113399352G>A | CA6280937 | ANKK1 | c.1383G>A (p.Gly461=) c.1416G>A (p.Gly472=) c.1386G>A (p.Gly462=) c.1194G>A (p.Gly398=) c.1413G>A (p.Gly471=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399352G>C | CA477042573 | ANKK1 | c.1383G>C (p.Gly461=) c.1416G>C (p.Gly472=) c.1386G>C (p.Gly462=) c.1194G>C (p.Gly398=) c.1413G>C (p.Gly471=) | |
| 11 | g.113399352G= | CA2001152131 | ANKK1 | c.1383G= (p.Gly461=) c.1416G= (p.Gly472=) c.1386G= (p.Gly462=) c.1194G= (p.Gly398=) c.1413G= (p.Gly471=) | |
| 11 | g.113399352G>T | CA477042574 | ANKK1 | c.1383G>T (p.Gly461=) c.1416G>T (p.Gly472=) c.1386G>T (p.Gly462=) c.1194G>T (p.Gly398=) c.1413G>T (p.Gly471=) | |
| 11 | g.113399353T>A | CA382645040 | ANKK1 | c.1384T>A (p.Trp462Arg) c.1417T>A (p.Trp473Arg) c.1387T>A (p.Trp463Arg) c.1195T>A (p.Trp399Arg) c.1414T>A (p.Trp472Arg) | |
| 11 | g.113399353T>C | CA6280938 | ANKK1 | c.1384T>C (p.Trp462Arg) c.1417T>C (p.Trp473Arg) c.1387T>C (p.Trp463Arg) c.1195T>C (p.Trp399Arg) c.1414T>C (p.Trp472Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113399353T>G | CA382645041 | ANKK1 | c.1384T>G (p.Trp462Gly) c.1417T>G (p.Trp473Gly) c.1387T>G (p.Trp463Gly) c.1195T>G (p.Trp399Gly) c.1414T>G (p.Trp472Gly) | dbSNP |
| 11 | g.113399353T= | CA2001152134 | ANKK1 | c.1384T= (p.Trp462=) c.1417T= (p.Trp473=) c.1387T= (p.Trp463=) c.1195T= (p.Trp399=) c.1414T= (p.Trp472=) | |
| 11 | g.113399354G>A | CA382645042 | ANKK1 | c.1385G>A (p.Trp462Ter) c.1418G>A (p.Trp473Ter) c.1388G>A (p.Trp463Ter) c.1196G>A (p.Trp399Ter) c.1415G>A (p.Trp472Ter) | |
| 11 | g.113399354G>C | CA382645043 | ANKK1 | c.1385G>C (p.Trp462Ser) c.1418G>C (p.Trp473Ser) c.1388G>C (p.Trp463Ser) c.1196G>C (p.Trp399Ser) c.1415G>C (p.Trp472Ser) | |
| 11 | g.113399354G>T | CA382645044 | ANKK1 | c.1385G>T (p.Trp462Leu) c.1418G>T (p.Trp473Leu) c.1388G>T (p.Trp463Leu) c.1196G>T (p.Trp399Leu) c.1415G>T (p.Trp472Leu) | gnomAD v4 |
| 11 | g.113399354_113399356dup | CA2574982162 | ANKK1 | c.1385_1387dup (p.Trp462_Thr463insArg) c.1418_1420dup (p.Trp473_Thr474insArg) c.1388_1390dup (p.Trp463_Thr464insArg) c.1196_1198dup (p.Trp399_Thr400insArg) c.1415_1417dup (p.Trp472_Thr473insArg) | |
| 11 | g.113399355G>A | CA382645045 | ANKK1 | c.1386G>A (p.Trp462Ter) c.1419G>A (p.Trp473Ter) c.1389G>A (p.Trp463Ter) c.1197G>A (p.Trp399Ter) c.1416G>A (p.Trp472Ter) | |
| 11 | g.113399355G>C | CA382645046 | ANKK1 | c.1386G>C (p.Trp462Cys) c.1419G>C (p.Trp473Cys) c.1389G>C (p.Trp463Cys) c.1197G>C (p.Trp399Cys) c.1416G>C (p.Trp472Cys) | |
| 11 | g.113399355G>T | CA382645048 | ANKK1 | c.1386G>T (p.Trp462Cys) c.1419G>T (p.Trp473Cys) c.1389G>T (p.Trp463Cys) c.1197G>T (p.Trp399Cys) c.1416G>T (p.Trp472Cys) | gnomAD v4 |
| 11 | g.113399356A= | CA2001152138 | ANKK1 | c.1387A= (p.Thr463=) c.1420A= (p.Thr474=) c.1390A= (p.Thr464=) c.1198A= (p.Thr400=) c.1417A= (p.Thr473=) | |
| 11 | g.113399356A>C | CA382645050 | ANKK1 | c.1387A>C (p.Thr463Pro) c.1420A>C (p.Thr474Pro) c.1390A>C (p.Thr464Pro) c.1198A>C (p.Thr400Pro) c.1417A>C (p.Thr473Pro) | |
| 11 | g.113399356A>G | CA382645049 | ANKK1 | c.1387A>G (p.Thr463Ala) c.1420A>G (p.Thr474Ala) c.1390A>G (p.Thr464Ala) c.1198A>G (p.Thr400Ala) c.1417A>G (p.Thr473Ala) | COSMIC |
| 11 | g.113399356A>T | CA228615265 | ANKK1 | c.1387A>T (p.Thr463Ser) c.1420A>T (p.Thr474Ser) c.1390A>T (p.Thr464Ser) c.1198A>T (p.Thr400Ser) c.1417A>T (p.Thr473Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399356_113399357delinsAC | CA2001152140 | ANKK1 | c.1387_1388delinsAC (p.Thr463=) c.1420_1421delinsAC (p.Thr474=) c.1390_1391delinsAC (p.Thr464=) c.1198_1199delinsAC (p.Thr400=) c.1417_1418delinsAC (p.Thr473=) | |
| 11 | g.113399357C>A | CA382645051 | ANKK1 | c.1388C>A (p.Thr463Asn) c.1421C>A (p.Thr474Asn) c.1391C>A (p.Thr464Asn) c.1199C>A (p.Thr400Asn) c.1418C>A (p.Thr473Asn) | |
| 11 | g.113399357C>G | CA382645052 | ANKK1 | c.1388C>G (p.Thr463Ser) c.1421C>G (p.Thr474Ser) c.1391C>G (p.Thr464Ser) c.1199C>G (p.Thr400Ser) c.1418C>G (p.Thr473Ser) | |
| 11 | g.113399357C>T | CA382645053 | ANKK1 | c.1388C>T (p.Thr463Ile) c.1421C>T (p.Thr474Ile) c.1391C>T (p.Thr464Ile) c.1199C>T (p.Thr400Ile) c.1418C>T (p.Thr473Ile) | gnomAD v4 |
| 11 | g.113399360del | CA6280939 | ANKK1 | c.1391del (p.Pro464LeufsTer?) c.1424del (p.Pro475LeufsTer?) c.1394del (p.Pro465LeufsTer?) c.1202del (p.Pro401LeufsTer?) c.1421del (p.Pro474LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399358C>A | CA477042584 | ANKK1 | c.1389C>A (p.Thr463=) c.1422C>A (p.Thr474=) c.1392C>A (p.Thr464=) c.1200C>A (p.Thr400=) c.1419C>A (p.Thr473=) | dbSNP gnomAD v4 |
| 11 | g.113399358C= | CA2001152147 | ANKK1 | c.1389C= (p.Thr463=) c.1422C= (p.Thr474=) c.1392C= (p.Thr464=) c.1200C= (p.Thr400=) c.1419C= (p.Thr473=) | |
| 11 | g.113399358C>G | CA477042583 | ANKK1 | c.1389C>G (p.Thr463=) c.1422C>G (p.Thr474=) c.1392C>G (p.Thr464=) c.1200C>G (p.Thr400=) c.1419C>G (p.Thr473=) | |
| 11 | g.113399358C>T | CA477042582 | ANKK1 | c.1389C>T (p.Thr463=) c.1422C>T (p.Thr474=) c.1392C>T (p.Thr464=) c.1200C>T (p.Thr400=) c.1419C>T (p.Thr473=) | |
| 11 | g.113399359C>A | CA382645054 | ANKK1 | c.1390C>A (p.Pro464Thr) c.1423C>A (p.Pro475Thr) c.1393C>A (p.Pro465Thr) c.1201C>A (p.Pro401Thr) c.1420C>A (p.Pro474Thr) | gnomAD v4 |
| 11 | g.113399359C= | CA2001152150 | ANKK1 | c.1390C= (p.Pro464=) c.1423C= (p.Pro475=) c.1393C= (p.Pro465=) c.1201C= (p.Pro401=) c.1420C= (p.Pro474=) | |
| 11 | g.113399359C>G | CA382645055 | ANKK1 | c.1390C>G (p.Pro464Ala) c.1423C>G (p.Pro475Ala) c.1393C>G (p.Pro465Ala) c.1201C>G (p.Pro401Ala) c.1420C>G (p.Pro474Ala) | |
| 11 | g.113399359C>T | CA6280940 | ANKK1 | c.1390C>T (p.Pro464Ser) c.1423C>T (p.Pro475Ser) c.1393C>T (p.Pro465Ser) c.1201C>T (p.Pro401Ser) c.1420C>T (p.Pro474Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399360C>A | CA382645056 | ANKK1 | c.1391C>A (p.Pro464His) c.1424C>A (p.Pro475His) c.1394C>A (p.Pro465His) c.1202C>A (p.Pro401His) c.1421C>A (p.Pro474His) | gnomAD v4 |
| 11 | g.113399360C= | CA2001152153 | ANKK1 | c.1391C= (p.Pro464=) c.1424C= (p.Pro475=) c.1394C= (p.Pro465=) c.1202C= (p.Pro401=) c.1421C= (p.Pro474=) | |
| 11 | g.113399360C>G | CA382645057 | ANKK1 | c.1391C>G (p.Pro464Arg) c.1424C>G (p.Pro475Arg) c.1394C>G (p.Pro465Arg) c.1202C>G (p.Pro401Arg) c.1421C>G (p.Pro474Arg) | |
| 11 | g.113399360C>T | CA382645058 | ANKK1 | c.1391C>T (p.Pro464Leu) c.1424C>T (p.Pro475Leu) c.1394C>T (p.Pro465Leu) c.1202C>T (p.Pro401Leu) c.1421C>T (p.Pro474Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113399361T>A | CA477042589 | ANKK1 | c.1392T>A (p.Pro464=) c.1425T>A (p.Pro475=) c.1395T>A (p.Pro465=) c.1203T>A (p.Pro401=) c.1422T>A (p.Pro474=) | |
| 11 | g.113399361T>C | CA477042588 | ANKK1 | c.1392T>C (p.Pro464=) c.1425T>C (p.Pro475=) c.1395T>C (p.Pro465=) c.1203T>C (p.Pro401=) c.1422T>C (p.Pro474=) | |
| 11 | g.113399361T>G | CA477042587 | ANKK1 | c.1392T>G (p.Pro464=) c.1425T>G (p.Pro475=) c.1395T>G (p.Pro465=) c.1203T>G (p.Pro401=) c.1422T>G (p.Pro474=) | |
| 11 | g.113399362C>A | CA382645061 | ANKK1 | c.1393C>A (p.Leu465Ile) c.1426C>A (p.Leu476Ile) c.1396C>A (p.Leu466Ile) c.1204C>A (p.Leu402Ile) c.1423C>A (p.Leu475Ile) | gnomAD v4 |
| 11 | g.113399362C= | CA2001152156 | ANKK1 | c.1393C= (p.Leu465=) c.1426C= (p.Leu476=) c.1396C= (p.Leu466=) c.1204C= (p.Leu402=) c.1423C= (p.Leu475=) | |
| 11 | g.113399362C>G | CA382645059 | ANKK1 | c.1393C>G (p.Leu465Val) c.1426C>G (p.Leu476Val) c.1396C>G (p.Leu466Val) c.1204C>G (p.Leu402Val) c.1423C>G (p.Leu475Val) | |
| 11 | g.113399362C>T | CA6280941 | ANKK1 | c.1393C>T (p.Leu465Phe) c.1426C>T (p.Leu476Phe) c.1396C>T (p.Leu466Phe) c.1204C>T (p.Leu402Phe) c.1423C>T (p.Leu475Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399363T>A | CA382645063 | ANKK1 | c.1394T>A (p.Leu465His) c.1427T>A (p.Leu476His) c.1397T>A (p.Leu466His) c.1205T>A (p.Leu402His) c.1424T>A (p.Leu475His) | |
| 11 | g.113399363T>C | CA382645064 | ANKK1 | c.1394T>C (p.Leu465Pro) c.1427T>C (p.Leu476Pro) c.1397T>C (p.Leu466Pro) c.1205T>C (p.Leu402Pro) c.1424T>C (p.Leu475Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399363T>G | CA382645065 | ANKK1 | c.1394T>G (p.Leu465Arg) c.1427T>G (p.Leu476Arg) c.1397T>G (p.Leu466Arg) c.1205T>G (p.Leu402Arg) c.1424T>G (p.Leu475Arg) | |
| 11 | g.113399363T= | CA2001152161 | ANKK1 | c.1394T= (p.Leu465=) c.1427T= (p.Leu476=) c.1397T= (p.Leu466=) c.1205T= (p.Leu402=) c.1424T= (p.Leu475=) | |
| 11 | g.113399364T>A | CA477042594 | ANKK1 | c.1395T>A (p.Leu465=) c.1428T>A (p.Leu476=) c.1398T>A (p.Leu466=) c.1206T>A (p.Leu402=) c.1425T>A (p.Leu475=) | |
| 11 | g.113399364T>C | CA477042596 | ANKK1 | c.1395T>C (p.Leu465=) c.1428T>C (p.Leu476=) c.1398T>C (p.Leu466=) c.1206T>C (p.Leu402=) c.1425T>C (p.Leu475=) | |
| 11 | g.113399364T>G | CA477042595 | ANKK1 | c.1395T>G (p.Leu465=) c.1428T>G (p.Leu476=) c.1398T>G (p.Leu466=) c.1206T>G (p.Leu402=) c.1425T>G (p.Leu475=) | |
| 11 | g.113399365C>A | CA382645066 | ANKK1 | c.1396C>A (p.His466Asn) c.1429C>A (p.His477Asn) c.1399C>A (p.His467Asn) c.1207C>A (p.His403Asn) c.1426C>A (p.His476Asn) | gnomAD v4 |
| 11 | g.113399365C>G | CA382645067 | ANKK1 | c.1396C>G (p.His466Asp) c.1429C>G (p.His477Asp) c.1399C>G (p.His467Asp) c.1207C>G (p.His403Asp) c.1426C>G (p.His476Asp) | |
| 11 | g.113399365C>T | CA382645068 | ANKK1 | c.1396C>T (p.His466Tyr) c.1429C>T (p.His477Tyr) c.1399C>T (p.His467Tyr) c.1207C>T (p.His403Tyr) c.1426C>T (p.His476Tyr) | gnomAD v4 |
| 11 | g.113399366A>C | CA382645069 | ANKK1 | c.1397A>C (p.His466Pro) c.1430A>C (p.His477Pro) c.1400A>C (p.His467Pro) c.1208A>C (p.His403Pro) c.1427A>C (p.His476Pro) | |
| 11 | g.113399366A>G | CA382645070 | ANKK1 | c.1397A>G (p.His466Arg) c.1430A>G (p.His477Arg) c.1400A>G (p.His467Arg) c.1208A>G (p.His403Arg) c.1427A>G (p.His476Arg) | |
| 11 | g.113399366A>T | CA382645071 | ANKK1 | c.1397A>T (p.His466Leu) c.1430A>T (p.His477Leu) c.1400A>T (p.His467Leu) c.1208A>T (p.His403Leu) c.1427A>T (p.His476Leu) | |
| 11 | g.113399367C>A | CA382645072 | ANKK1 | c.1398C>A (p.His466Gln) c.1431C>A (p.His477Gln) c.1401C>A (p.His467Gln) c.1209C>A (p.His403Gln) c.1428C>A (p.His476Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399367C= | CA2001152163 | ANKK1 | c.1398C= (p.His466=) c.1431C= (p.His477=) c.1401C= (p.His467=) c.1209C= (p.His403=) c.1428C= (p.His476=) | |
| 11 | g.113399367C>G | CA382645073 | ANKK1 | c.1398C>G (p.His466Gln) c.1431C>G (p.His477Gln) c.1401C>G (p.His467Gln) c.1209C>G (p.His403Gln) c.1428C>G (p.His476Gln) | |
| 11 | g.113399367C>T | CA477042598 | ANKK1 | c.1398C>T (p.His466=) c.1431C>T (p.His477=) c.1401C>T (p.His467=) c.1209C>T (p.His403=) c.1428C>T (p.His476=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399368C>A | CA382645075 | ANKK1 | c.1399C>A (p.Leu467Met) c.1432C>A (p.Leu478Met) c.1402C>A (p.Leu468Met) c.1210C>A (p.Leu404Met) c.1429C>A (p.Leu477Met) | gnomAD v4 |
| 11 | g.113399368C>G | CA382645076 | ANKK1 | c.1399C>G (p.Leu467Val) c.1432C>G (p.Leu478Val) c.1402C>G (p.Leu468Val) c.1210C>G (p.Leu404Val) c.1429C>G (p.Leu477Val) | gnomAD v4 |
| 11 | g.113399368C>T | CA477042599 | ANKK1 | c.1399C>T (p.Leu467=) c.1432C>T (p.Leu478=) c.1402C>T (p.Leu468=) c.1210C>T (p.Leu404=) c.1429C>T (p.Leu477=) | |
| 11 | g.113399369T>A | CA382645078 | ANKK1 | c.1400T>A (p.Leu467Gln) c.1433T>A (p.Leu478Gln) c.1403T>A (p.Leu468Gln) c.1211T>A (p.Leu404Gln) c.1430T>A (p.Leu477Gln) | dbSNP |
| 11 | g.113399369T>C | CA228615270 | ANKK1 | c.1400T>C (p.Leu467Pro) c.1433T>C (p.Leu478Pro) c.1403T>C (p.Leu468Pro) c.1211T>C (p.Leu404Pro) c.1430T>C (p.Leu477Pro) | dbSNP |
| 11 | g.113399369T>G | CA382645077 | ANKK1 | c.1400T>G (p.Leu467Arg) c.1433T>G (p.Leu478Arg) c.1403T>G (p.Leu468Arg) c.1211T>G (p.Leu404Arg) c.1430T>G (p.Leu477Arg) | |
| 11 | g.113399369T= | CA2001152167 | ANKK1 | c.1400T= (p.Leu467=) c.1433T= (p.Leu478=) c.1403T= (p.Leu468=) c.1211T= (p.Leu404=) c.1430T= (p.Leu477=) | |
| 11 | g.113399370G>A | CA477042601 | ANKK1 | c.1401G>A (p.Leu467=) c.1434G>A (p.Leu478=) c.1404G>A (p.Leu468=) c.1212G>A (p.Leu404=) c.1431G>A (p.Leu477=) | gnomAD v4 |
| 11 | g.113399370G>C | CA477042602 | ANKK1 | c.1401G>C (p.Leu467=) c.1434G>C (p.Leu478=) c.1404G>C (p.Leu468=) c.1212G>C (p.Leu404=) c.1431G>C (p.Leu477=) | |
| 11 | g.113399370G>T | CA477042603 | ANKK1 | c.1401G>T (p.Leu467=) c.1434G>T (p.Leu478=) c.1404G>T (p.Leu468=) c.1212G>T (p.Leu404=) c.1431G>T (p.Leu477=) | gnomAD v4 |
| 11 | g.113399371G>A | CA382645081 | ANKK1 | c.1402G>A (p.Ala468Thr) c.1435G>A (p.Ala479Thr) c.1405G>A (p.Ala469Thr) c.1213G>A (p.Ala405Thr) c.1432G>A (p.Ala478Thr) | gnomAD v4 |
| 11 | g.113399371G>C | CA382645079 | ANKK1 | c.1402G>C (p.Ala468Pro) c.1435G>C (p.Ala479Pro) c.1405G>C (p.Ala469Pro) c.1213G>C (p.Ala405Pro) c.1432G>C (p.Ala478Pro) | dbSNP |
| 11 | g.113399371G= | CA2001152172 | ANKK1 | c.1402G= (p.Ala468=) c.1435G= (p.Ala479=) c.1405G= (p.Ala469=) c.1213G= (p.Ala405=) c.1432G= (p.Ala478=) | |
| 11 | g.113399371G>T | CA382645080 | ANKK1 | c.1402G>T (p.Ala468Ser) c.1435G>T (p.Ala479Ser) c.1405G>T (p.Ala469Ser) c.1213G>T (p.Ala405Ser) c.1432G>T (p.Ala478Ser) | gnomAD v4 |
| 11 | g.113399372C>A | CA382645082 | ANKK1 | c.1403C>A (p.Ala468Asp) c.1436C>A (p.Ala479Asp) c.1406C>A (p.Ala469Asp) c.1214C>A (p.Ala405Asp) c.1433C>A (p.Ala478Asp) | gnomAD v4 |
| 11 | g.113399372C= | CA2001152175 | ANKK1 | c.1403C= (p.Ala468=) c.1436C= (p.Ala479=) c.1406C= (p.Ala469=) c.1214C= (p.Ala405=) c.1433C= (p.Ala478=) | |
| 11 | g.113399372C>G | CA382645083 | ANKK1 | c.1403C>G (p.Ala468Gly) c.1436C>G (p.Ala479Gly) c.1406C>G (p.Ala469Gly) c.1214C>G (p.Ala405Gly) c.1433C>G (p.Ala478Gly) | |
| 11 | g.113399372C>T | CA382645084 | ANKK1 | c.1403C>T (p.Ala468Val) c.1436C>T (p.Ala479Val) c.1406C>T (p.Ala469Val) c.1214C>T (p.Ala405Val) c.1433C>T (p.Ala478Val) | dbSNP |
| 11 | g.113399373T>A | CA477042608 | ANKK1 | c.1404T>A (p.Ala468=) c.1437T>A (p.Ala479=) c.1407T>A (p.Ala469=) c.1215T>A (p.Ala405=) c.1434T>A (p.Ala478=) | |
| 11 | g.113399373T>C | CA477042609 | ANKK1 | c.1404T>C (p.Ala468=) c.1437T>C (p.Ala479=) c.1407T>C (p.Ala469=) c.1215T>C (p.Ala405=) c.1434T>C (p.Ala478=) | |
| 11 | g.113399373T>G | CA477042610 | ANKK1 | c.1404T>G (p.Ala468=) c.1437T>G (p.Ala479=) c.1407T>G (p.Ala469=) c.1215T>G (p.Ala405=) c.1434T>G (p.Ala478=) | |
| 11 | g.113399374G>A | CA382645085 | ANKK1 | c.1405G>A (p.Ala469Thr) c.1438G>A (p.Ala480Thr) c.1408G>A (p.Ala470Thr) c.1216G>A (p.Ala406Thr) c.1435G>A (p.Ala479Thr) | gnomAD v4 |
| 11 | g.113399374G>C | CA382645086 | ANKK1 | c.1405G>C (p.Ala469Pro) c.1438G>C (p.Ala480Pro) c.1408G>C (p.Ala470Pro) c.1216G>C (p.Ala406Pro) c.1435G>C (p.Ala479Pro) | |
| 11 | g.113399374G>T | CA382645087 | ANKK1 | c.1405G>T (p.Ala469Ser) c.1438G>T (p.Ala480Ser) c.1408G>T (p.Ala470Ser) c.1216G>T (p.Ala406Ser) c.1435G>T (p.Ala479Ser) | |
| 11 | g.113399375C>A | CA382645088 | ANKK1 | c.1406C>A (p.Ala469Glu) c.1439C>A (p.Ala480Glu) c.1409C>A (p.Ala470Glu) c.1217C>A (p.Ala406Glu) c.1436C>A (p.Ala479Glu) | gnomAD v4 |
| 11 | g.113399375C>G | CA382645089 | ANKK1 | c.1406C>G (p.Ala469Gly) c.1439C>G (p.Ala480Gly) c.1409C>G (p.Ala470Gly) c.1217C>G (p.Ala406Gly) c.1436C>G (p.Ala479Gly) | |
| 11 | g.113399375C>T | CA382645090 | ANKK1 | c.1406C>T (p.Ala469Val) c.1439C>T (p.Ala480Val) c.1409C>T (p.Ala470Val) c.1217C>T (p.Ala406Val) c.1436C>T (p.Ala479Val) | gnomAD v4 |
| 11 | g.113399376A= | CA2001152179 | ANKK1 | c.1407A= (p.Ala469=) c.1440A= (p.Ala480=) c.1410A= (p.Ala470=) c.1218A= (p.Ala406=) c.1437A= (p.Ala479=) | |
| 11 | g.113399376A>C | CA228615271 | ANKK1 | c.1407A>C (p.Ala469=) c.1440A>C (p.Ala480=) c.1410A>C (p.Ala470=) c.1218A>C (p.Ala406=) c.1437A>C (p.Ala479=) | dbSNP gnomAD v4 |
| 11 | g.113399376A>G | CA477042615 | ANKK1 | c.1407A>G (p.Ala469=) c.1440A>G (p.Ala480=) c.1410A>G (p.Ala470=) c.1218A>G (p.Ala406=) c.1437A>G (p.Ala479=) | gnomAD v4 |
| 11 | g.113399376A>T | CA477042616 | ANKK1 | c.1407A>T (p.Ala469=) c.1440A>T (p.Ala480=) c.1410A>T (p.Ala470=) c.1218A>T (p.Ala406=) c.1437A>T (p.Ala479=) | |
| 11 | g.113399377C>A | CA382645093 | ANKK1 | c.1408C>A (p.Gln470Lys) c.1441C>A (p.Gln481Lys) c.1411C>A (p.Gln471Lys) c.1219C>A (p.Gln407Lys) c.1438C>A (p.Gln480Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113399377C= | CA2001152181 | ANKK1 | c.1408C= (p.Gln470=) c.1441C= (p.Gln481=) c.1411C= (p.Gln471=) c.1219C= (p.Gln407=) c.1438C= (p.Gln480=) | |
| 11 | g.113399377C>G | CA382645092 | ANKK1 | c.1408C>G (p.Gln470Glu) c.1441C>G (p.Gln481Glu) c.1411C>G (p.Gln471Glu) c.1219C>G (p.Gln407Glu) c.1438C>G (p.Gln480Glu) | |
| 11 | g.113399377C>T | CA382645091 | ANKK1 | c.1408C>T (p.Gln470Ter) c.1441C>T (p.Gln481Ter) c.1411C>T (p.Gln471Ter) c.1219C>T (p.Gln407Ter) c.1438C>T (p.Gln480Ter) | gnomAD v4 |
| 11 | g.113399378A>C | CA382645094 | ANKK1 | c.1409A>C (p.Gln470Pro) c.1442A>C (p.Gln481Pro) c.1412A>C (p.Gln471Pro) c.1220A>C (p.Gln407Pro) c.1439A>C (p.Gln480Pro) | |
| 11 | g.113399378A>G | CA382645095 | ANKK1 | c.1409A>G (p.Gln470Arg) c.1442A>G (p.Gln481Arg) c.1412A>G (p.Gln471Arg) c.1220A>G (p.Gln407Arg) c.1439A>G (p.Gln480Arg) | |
| 11 | g.113399378A>T | CA382645096 | ANKK1 | c.1409A>T (p.Gln470Leu) c.1442A>T (p.Gln481Leu) c.1412A>T (p.Gln471Leu) c.1220A>T (p.Gln407Leu) c.1439A>T (p.Gln480Leu) | |
| 11 | g.113399379G>A | CA477042617 | ANKK1 | c.1410G>A (p.Gln470=) c.1443G>A (p.Gln481=) c.1413G>A (p.Gln471=) c.1221G>A (p.Gln407=) c.1440G>A (p.Gln480=) | |
| 11 | g.113399379G>C | CA382645097 | ANKK1 | c.1410G>C (p.Gln470His) c.1443G>C (p.Gln481His) c.1413G>C (p.Gln471His) c.1221G>C (p.Gln407His) c.1440G>C (p.Gln480His) | |
| 11 | g.113399379G= | CA2001152184 | ANKK1 | c.1410G= (p.Gln470=) c.1443G= (p.Gln481=) c.1413G= (p.Gln471=) c.1221G= (p.Gln407=) c.1440G= (p.Gln480=) | |
| 11 | g.113399379G>T | CA6280942 | ANKK1 | c.1410G>T (p.Gln470His) c.1443G>T (p.Gln481His) c.1413G>T (p.Gln471His) c.1221G>T (p.Gln407His) c.1440G>T (p.Gln480His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.113399380A>C | CA382645098 | ANKK1 | c.1411A>C (p.Asn471His) c.1444A>C (p.Asn482His) c.1414A>C (p.Asn472His) c.1222A>C (p.Asn408His) c.1441A>C (p.Asn481His) | |
| 11 | g.113399380A>G | CA382645099 | ANKK1 | c.1411A>G (p.Asn471Asp) c.1444A>G (p.Asn482Asp) c.1414A>G (p.Asn472Asp) c.1222A>G (p.Asn408Asp) c.1441A>G (p.Asn481Asp) | |
| 11 | g.113399380A>T | CA382645100 | ANKK1 | c.1411A>T (p.Asn471Tyr) c.1444A>T (p.Asn482Tyr) c.1414A>T (p.Asn472Tyr) c.1222A>T (p.Asn408Tyr) c.1441A>T (p.Asn481Tyr) | |
| 11 | g.113399381A>C | CA382645101 | ANKK1 | c.1412A>C (p.Asn471Thr) c.1445A>C (p.Asn482Thr) c.1415A>C (p.Asn472Thr) c.1223A>C (p.Asn408Thr) c.1442A>C (p.Asn481Thr) | |
| 11 | g.113399381A>G | CA382645102 | ANKK1 | c.1412A>G (p.Asn471Ser) c.1445A>G (p.Asn482Ser) c.1415A>G (p.Asn472Ser) c.1223A>G (p.Asn408Ser) c.1442A>G (p.Asn481Ser) | gnomAD v4 |
| 11 | g.113399381A>T | CA382645103 | ANKK1 | c.1412A>T (p.Asn471Ile) c.1445A>T (p.Asn482Ile) c.1415A>T (p.Asn472Ile) c.1223A>T (p.Asn408Ile) c.1442A>T (p.Asn481Ile) | |
| 11 | g.113399382T>A | CA382645104 | ANKK1 | c.1413T>A (p.Asn471Lys) c.1446T>A (p.Asn482Lys) c.1416T>A (p.Asn472Lys) c.1224T>A (p.Asn408Lys) c.1443T>A (p.Asn481Lys) | gnomAD v4 |
| 11 | g.113399382T>C | CA477042621 | ANKK1 | c.1413T>C (p.Asn471=) c.1446T>C (p.Asn482=) c.1416T>C (p.Asn472=) c.1224T>C (p.Asn408=) c.1443T>C (p.Asn481=) | |
| 11 | g.113399382T>G | CA382645105 | ANKK1 | c.1413T>G (p.Asn471Lys) c.1446T>G (p.Asn482Lys) c.1416T>G (p.Asn472Lys) c.1224T>G (p.Asn408Lys) c.1443T>G (p.Asn481Lys) | |
| 11 | g.113399383A>C | CA382645107 | ANKK1 | c.1414A>C (p.Asn472His) c.1447A>C (p.Asn483His) c.1417A>C (p.Asn473His) c.1225A>C (p.Asn409His) c.1444A>C (p.Asn482His) | |
| 11 | g.113399383A>G | CA382645108 | ANKK1 | c.1414A>G (p.Asn472Asp) c.1447A>G (p.Asn483Asp) c.1417A>G (p.Asn473Asp) c.1225A>G (p.Asn409Asp) c.1444A>G (p.Asn482Asp) | |
| 11 | g.113399383A>T | CA382645106 | ANKK1 | c.1414A>T (p.Asn472Tyr) c.1447A>T (p.Asn483Tyr) c.1417A>T (p.Asn473Tyr) c.1225A>T (p.Asn409Tyr) c.1444A>T (p.Asn482Tyr) | |
| 11 | g.113399384A>C | CA382645109 | ANKK1 | c.1415A>C (p.Asn472Thr) c.1448A>C (p.Asn483Thr) c.1418A>C (p.Asn473Thr) c.1226A>C (p.Asn409Thr) c.1445A>C (p.Asn482Thr) | |
| 11 | g.113399384A>G | CA382645110 | ANKK1 | c.1415A>G (p.Asn472Ser) c.1448A>G (p.Asn483Ser) c.1418A>G (p.Asn473Ser) c.1226A>G (p.Asn409Ser) c.1445A>G (p.Asn482Ser) | |
| 11 | g.113399384A>T | CA382645111 | ANKK1 | c.1415A>T (p.Asn472Ile) c.1448A>T (p.Asn483Ile) c.1418A>T (p.Asn473Ile) c.1226A>T (p.Asn409Ile) c.1445A>T (p.Asn482Ile) | |
| 11 | g.113399385C>A | CA382645112 | ANKK1 | c.1416C>A (p.Asn472Lys) c.1449C>A (p.Asn483Lys) c.1419C>A (p.Asn473Lys) c.1227C>A (p.Asn409Lys) c.1446C>A (p.Asn482Lys) | |
| 11 | g.113399385C= | CA2001152201 | ANKK1 | c.1416C= (p.Asn472=) c.1449C= (p.Asn483=) c.1419C= (p.Asn473=) c.1227C= (p.Asn409=) c.1446C= (p.Asn482=) | |
| 11 | g.113399385C>G | CA382645113 | ANKK1 | c.1416C>G (p.Asn472Lys) c.1449C>G (p.Asn483Lys) c.1419C>G (p.Asn473Lys) c.1227C>G (p.Asn409Lys) c.1446C>G (p.Asn482Lys) | dbSNP COSMIC |
| 11 | g.113399385C>T | CA477042626 | ANKK1 | c.1416C>T (p.Asn472=) c.1449C>T (p.Asn483=) c.1419C>T (p.Asn473=) c.1227C>T (p.Asn409=) c.1446C>T (p.Asn482=) | |
| 11 | g.113399385_113399387delinsCTT | CA2001152203 | ANKK1 | c.1416_1418delinsCTT (p.Asn472=) c.1449_1451delinsCTT (p.Asn483=) c.1419_1421delinsCTT (p.Asn473=) c.1227_1229delinsCTT (p.Asn409=) c.1446_1448delinsCTT (p.Asn482=) | |
| 11 | g.113399386T>A | CA382645116 | ANKK1 | c.1417T>A (p.Phe473Ile) c.1450T>A (p.Phe484Ile) c.1420T>A (p.Phe474Ile) c.1228T>A (p.Phe410Ile) c.1447T>A (p.Phe483Ile) | |
| 11 | g.113399386T>C | CA382645115 | ANKK1 | c.1417T>C (p.Phe473Leu) c.1450T>C (p.Phe484Leu) c.1420T>C (p.Phe474Leu) c.1228T>C (p.Phe410Leu) c.1447T>C (p.Phe483Leu) | gnomAD v4 |
| 11 | g.113399386T>G | CA382645114 | ANKK1 | c.1417T>G (p.Phe473Val) c.1450T>G (p.Phe484Val) c.1420T>G (p.Phe474Val) c.1228T>G (p.Phe410Val) c.1447T>G (p.Phe483Val) | |
| 11 | g.113399387_113399388del | CA6280943 | ANKK1 | c.1418_1419del (p.Phe473Ter) c.1451_1452del (p.Phe484Ter) c.1421_1422del (p.Phe474Ter) c.1229_1230del (p.Phe410Ter) c.1448_1449del (p.Phe483Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399387T>A | CA382645117 | ANKK1 | c.1418T>A (p.Phe473Tyr) c.1451T>A (p.Phe484Tyr) c.1421T>A (p.Phe474Tyr) c.1229T>A (p.Phe410Tyr) c.1448T>A (p.Phe483Tyr) | |
| 11 | g.113399387T>C | CA382645118 | ANKK1 | c.1418T>C (p.Phe473Ser) c.1451T>C (p.Phe484Ser) c.1421T>C (p.Phe474Ser) c.1229T>C (p.Phe410Ser) c.1448T>C (p.Phe483Ser) | |
| 11 | g.113399387T>G | CA382645119 | ANKK1 | c.1418T>G (p.Phe473Cys) c.1451T>G (p.Phe484Cys) c.1421T>G (p.Phe474Cys) c.1229T>G (p.Phe410Cys) c.1448T>G (p.Phe483Cys) | |
| 11 | g.113399388T>A | CA382645120 | ANKK1 | c.1419T>A (p.Phe473Leu) c.1452T>A (p.Phe484Leu) c.1422T>A (p.Phe474Leu) c.1230T>A (p.Phe410Leu) c.1449T>A (p.Phe483Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113399388T>C | CA477042631 | ANKK1 | c.1419T>C (p.Phe473=) c.1452T>C (p.Phe484=) c.1422T>C (p.Phe474=) c.1230T>C (p.Phe410=) c.1449T>C (p.Phe483=) | |
| 11 | g.113399388T>G | CA382645121 | ANKK1 | c.1419T>G (p.Phe473Leu) c.1452T>G (p.Phe484Leu) c.1422T>G (p.Phe474Leu) c.1230T>G (p.Phe410Leu) c.1449T>G (p.Phe483Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399388T= | CA2001152212 | ANKK1 | c.1419T= (p.Phe473=) c.1452T= (p.Phe484=) c.1422T= (p.Phe474=) c.1230T= (p.Phe410=) c.1449T= (p.Phe483=) | |
| 11 | g.113399389G>A | CA382645122 | ANKK1 | c.1420G>A (p.Glu474Lys) c.1453G>A (p.Glu485Lys) c.1423G>A (p.Glu475Lys) c.1231G>A (p.Glu411Lys) c.1450G>A (p.Glu484Lys) | |
| 11 | g.113399389G>C | CA382645124 | ANKK1 | c.1420G>C (p.Glu474Gln) c.1453G>C (p.Glu485Gln) c.1423G>C (p.Glu475Gln) c.1231G>C (p.Glu411Gln) c.1450G>C (p.Glu484Gln) | |
| 11 | g.113399389G>T | CA382645123 | ANKK1 | c.1420G>T (p.Glu474Ter) c.1453G>T (p.Glu485Ter) c.1423G>T (p.Glu475Ter) c.1231G>T (p.Glu411Ter) c.1450G>T (p.Glu484Ter) | |
| 11 | g.113399390A>C | CA382645125 | ANKK1 | c.1421A>C (p.Glu474Ala) c.1454A>C (p.Glu485Ala) c.1424A>C (p.Glu475Ala) c.1232A>C (p.Glu411Ala) c.1451A>C (p.Glu484Ala) | |
| 11 | g.113399390A>G | CA382645126 | ANKK1 | c.1421A>G (p.Glu474Gly) c.1454A>G (p.Glu485Gly) c.1424A>G (p.Glu475Gly) c.1232A>G (p.Glu411Gly) c.1451A>G (p.Glu484Gly) | |
| 11 | g.113399390A>T | CA382645127 | ANKK1 | c.1421A>T (p.Glu474Val) c.1454A>T (p.Glu485Val) c.1424A>T (p.Glu475Val) c.1232A>T (p.Glu411Val) c.1451A>T (p.Glu484Val) | |
| 11 | g.113399391G>A | CA477042636 | ANKK1 | c.1422G>A (p.Glu474=) c.1455G>A (p.Glu485=) c.1425G>A (p.Glu475=) c.1233G>A (p.Glu411=) c.1452G>A (p.Glu484=) | |
| 11 | g.113399391G>C | CA382645128 | ANKK1 | c.1422G>C (p.Glu474Asp) c.1455G>C (p.Glu485Asp) c.1425G>C (p.Glu475Asp) c.1233G>C (p.Glu411Asp) c.1452G>C (p.Glu484Asp) | gnomAD v4 |
| 11 | g.113399391G>T | CA382645129 | ANKK1 | c.1422G>T (p.Glu474Asp) c.1455G>T (p.Glu485Asp) c.1425G>T (p.Glu475Asp) c.1233G>T (p.Glu411Asp) c.1452G>T (p.Glu484Asp) | gnomAD v4 |
| 11 | g.113399392A>C | CA382645130 | ANKK1 | c.1423A>C (p.Asn475His) c.1456A>C (p.Asn486His) c.1426A>C (p.Asn476His) c.1234A>C (p.Asn412His) c.1453A>C (p.Asn485His) | |
| 11 | g.113399392A>G | CA382645131 | ANKK1 | c.1423A>G (p.Asn475Asp) c.1456A>G (p.Asn486Asp) c.1426A>G (p.Asn476Asp) c.1234A>G (p.Asn412Asp) c.1453A>G (p.Asn485Asp) | |
| 11 | g.113399392A>T | CA382645132 | ANKK1 | c.1423A>T (p.Asn475Tyr) c.1456A>T (p.Asn486Tyr) c.1426A>T (p.Asn476Tyr) c.1234A>T (p.Asn412Tyr) c.1453A>T (p.Asn485Tyr) | |
| 11 | g.113399393A>C | CA382645133 | ANKK1 | c.1424A>C (p.Asn475Thr) c.1457A>C (p.Asn486Thr) c.1427A>C (p.Asn476Thr) c.1235A>C (p.Asn412Thr) c.1454A>C (p.Asn485Thr) | |
| 11 | g.113399393A>G | CA382645134 | ANKK1 | c.1424A>G (p.Asn475Ser) c.1457A>G (p.Asn486Ser) c.1427A>G (p.Asn476Ser) c.1235A>G (p.Asn412Ser) c.1454A>G (p.Asn485Ser) | |
| 11 | g.113399393A>T | CA382645135 | ANKK1 | c.1424A>T (p.Asn475Ile) c.1457A>T (p.Asn486Ile) c.1427A>T (p.Asn476Ile) c.1235A>T (p.Asn412Ile) c.1454A>T (p.Asn485Ile) | |
| 11 | g.113399394T>A | CA382645136 | ANKK1 | c.1425T>A (p.Asn475Lys) c.1458T>A (p.Asn486Lys) c.1428T>A (p.Asn476Lys) c.1236T>A (p.Asn412Lys) c.1455T>A (p.Asn485Lys) | |
| 11 | g.113399394T>C | CA477042642 | ANKK1 | c.1425T>C (p.Asn475=) c.1458T>C (p.Asn486=) c.1428T>C (p.Asn476=) c.1236T>C (p.Asn412=) c.1455T>C (p.Asn485=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113399394T>G | CA382645137 | ANKK1 | c.1425T>G (p.Asn475Lys) c.1458T>G (p.Asn486Lys) c.1428T>G (p.Asn476Lys) c.1236T>G (p.Asn412Lys) c.1455T>G (p.Asn485Lys) | |
| 11 | g.113399395G>A | CA382645139 | ANKK1 | c.1426G>A (p.Val476Met) c.1459G>A (p.Val487Met) c.1429G>A (p.Val477Met) c.1237G>A (p.Val413Met) c.1456G>A (p.Val486Met) | dbSNP gnomAD v4 |
| 11 | g.113399395G>C | CA382645140 | ANKK1 | c.1426G>C (p.Val476Leu) c.1459G>C (p.Val487Leu) c.1429G>C (p.Val477Leu) c.1237G>C (p.Val413Leu) c.1456G>C (p.Val486Leu) | |
| 11 | g.113399395G= | CA2001152214 | ANKK1 | c.1426G= (p.Val476=) c.1459G= (p.Val487=) c.1429G= (p.Val477=) c.1237G= (p.Val413=) c.1456G= (p.Val486=) | |
| 11 | g.113399395G>T | CA382645138 | ANKK1 | c.1426G>T (p.Val476Leu) c.1459G>T (p.Val487Leu) c.1429G>T (p.Val477Leu) c.1237G>T (p.Val413Leu) c.1456G>T (p.Val486Leu) | |
| 11 | g.113399396T>A | CA382645142 | ANKK1 | c.1427T>A (p.Val476Glu) c.1460T>A (p.Val487Glu) c.1430T>A (p.Val477Glu) c.1238T>A (p.Val413Glu) c.1457T>A (p.Val486Glu) | gnomAD v4 |
| 11 | g.113399396T>C | CA382645141 | ANKK1 | c.1427T>C (p.Val476Ala) c.1460T>C (p.Val487Ala) c.1430T>C (p.Val477Ala) c.1238T>C (p.Val413Ala) c.1457T>C (p.Val486Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399396T>G | CA382645143 | ANKK1 | c.1427T>G (p.Val476Gly) c.1460T>G (p.Val487Gly) c.1430T>G (p.Val477Gly) c.1238T>G (p.Val413Gly) c.1457T>G (p.Val486Gly) | |
| 11 | g.113399396T= | CA2001152216 | ANKK1 | c.1427T= (p.Val476=) c.1460T= (p.Val487=) c.1430T= (p.Val477=) c.1238T= (p.Val413=) c.1457T= (p.Val486=) | |
| 11 | g.113399397G>A | CA477042648 | ANKK1 | c.1428G>A (p.Val476=) c.1461G>A (p.Val487=) c.1431G>A (p.Val477=) c.1239G>A (p.Val413=) c.1458G>A (p.Val486=) | |
| 11 | g.113399397G>C | CA477042650 | ANKK1 | c.1428G>C (p.Val476=) c.1461G>C (p.Val487=) c.1431G>C (p.Val477=) c.1239G>C (p.Val413=) c.1458G>C (p.Val486=) | |
| 11 | g.113399397G>T | CA477042652 | ANKK1 | c.1428G>T (p.Val476=) c.1461G>T (p.Val487=) c.1431G>T (p.Val477=) c.1239G>T (p.Val413=) c.1458G>T (p.Val486=) | gnomAD v4 |
| 11 | g.113399398G>A | CA382645144 | ANKK1 | c.1429G>A (p.Ala477Thr) c.1462G>A (p.Ala488Thr) c.1432G>A (p.Ala478Thr) c.1240G>A (p.Ala414Thr) c.1459G>A (p.Ala487Thr) | gnomAD v4 |
| 11 | g.113399398G>C | CA382645145 | ANKK1 | c.1429G>C (p.Ala477Pro) c.1462G>C (p.Ala488Pro) c.1432G>C (p.Ala478Pro) c.1240G>C (p.Ala414Pro) c.1459G>C (p.Ala487Pro) | |
| 11 | g.113399398G>T | CA382645146 | ANKK1 | c.1429G>T (p.Ala477Ser) c.1462G>T (p.Ala488Ser) c.1432G>T (p.Ala478Ser) c.1240G>T (p.Ala414Ser) c.1459G>T (p.Ala487Ser) | gnomAD v4 |
| 11 | g.113399399C>A | CA382645149 | ANKK1 | c.1430C>A (p.Ala477Glu) c.1463C>A (p.Ala488Glu) c.1433C>A (p.Ala478Glu) c.1241C>A (p.Ala414Glu) c.1460C>A (p.Ala487Glu) | gnomAD v4 |
| 11 | g.113399399C>G | CA382645150 | ANKK1 | c.1430C>G (p.Ala477Gly) c.1463C>G (p.Ala488Gly) c.1433C>G (p.Ala478Gly) c.1241C>G (p.Ala414Gly) c.1460C>G (p.Ala487Gly) | |
| 11 | g.113399399C>T | CA382645151 | ANKK1 | c.1430C>T (p.Ala477Val) c.1463C>T (p.Ala488Val) c.1433C>T (p.Ala478Val) c.1241C>T (p.Ala414Val) c.1460C>T (p.Ala487Val) | |
| 11 | g.113399400A= | CA2001152220 | ANKK1 | c.1431A= (p.Ala477=) c.1464A= (p.Ala488=) c.1434A= (p.Ala478=) c.1242A= (p.Ala414=) c.1461A= (p.Ala487=) | |
| 11 | g.113399400A>C | CA477042655 | ANKK1 | c.1431A>C (p.Ala477=) c.1464A>C (p.Ala488=) c.1434A>C (p.Ala478=) c.1242A>C (p.Ala414=) c.1461A>C (p.Ala487=) | |
| 11 | g.113399400A>G | CA477042657 | ANKK1 | c.1431A>G (p.Ala477=) c.1464A>G (p.Ala488=) c.1434A>G (p.Ala478=) c.1242A>G (p.Ala414=) c.1461A>G (p.Ala487=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113399400A>T | CA477042656 | ANKK1 | c.1431A>T (p.Ala477=) c.1464A>T (p.Ala488=) c.1434A>T (p.Ala478=) c.1242A>T (p.Ala414=) c.1461A>T (p.Ala487=) | |
| 11 | g.113399401C>A | CA477042659 | ANKK1 | c.1432C>A (p.Arg478=) c.1465C>A (p.Arg489=) c.1435C>A (p.Arg479=) c.1243C>A (p.Arg415=) c.1462C>A (p.Arg488=) | gnomAD v4 |
| 11 | g.113399401C= | CA2001152225 | ANKK1 | c.1432C= (p.Arg478=) c.1465C= (p.Arg489=) c.1435C= (p.Arg479=) c.1243C= (p.Arg415=) c.1462C= (p.Arg488=) | |
| 11 | g.113399401C>G | CA382645152 | ANKK1 | c.1432C>G (p.Arg478Gly) c.1465C>G (p.Arg489Gly) c.1435C>G (p.Arg479Gly) c.1243C>G (p.Arg415Gly) c.1462C>G (p.Arg488Gly) | |
| 11 | g.113399401C>T | CA6280944 | ANKK1 | c.1432C>T (p.Arg478Trp) c.1465C>T (p.Arg489Trp) c.1435C>T (p.Arg479Trp) c.1243C>T (p.Arg415Trp) c.1462C>T (p.Arg488Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113399402G>A | CA6280945 | ANKK1 | c.1433G>A (p.Arg478Gln) c.1466G>A (p.Arg489Gln) c.1436G>A (p.Arg479Gln) c.1244G>A (p.Arg415Gln) c.1463G>A (p.Arg488Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399402G>C | CA382645153 | ANKK1 | c.1433G>C (p.Arg478Pro) c.1466G>C (p.Arg489Pro) c.1436G>C (p.Arg479Pro) c.1244G>C (p.Arg415Pro) c.1463G>C (p.Arg488Pro) | |
| 11 | g.113399402G= | CA2001152228 | ANKK1 | c.1433G= (p.Arg478=) c.1466G= (p.Arg489=) c.1436G= (p.Arg479=) c.1244G= (p.Arg415=) c.1463G= (p.Arg488=) | |
| 11 | g.113399402G>T | CA382645154 | ANKK1 | c.1433G>T (p.Arg478Leu) c.1466G>T (p.Arg489Leu) c.1436G>T (p.Arg479Leu) c.1244G>T (p.Arg415Leu) c.1463G>T (p.Arg488Leu) | gnomAD v4 |
| 11 | g.113399403G>A | CA477042661 | ANKK1 | c.1434G>A (p.Arg478=) c.1467G>A (p.Arg489=) c.1437G>A (p.Arg479=) c.1245G>A (p.Arg415=) c.1464G>A (p.Arg488=) | gnomAD v4 |
| 11 | g.113399403G>C | CA477042662 | ANKK1 | c.1434G>C (p.Arg478=) c.1467G>C (p.Arg489=) c.1437G>C (p.Arg479=) c.1245G>C (p.Arg415=) c.1464G>C (p.Arg488=) | |
| 11 | g.113399403G>T | CA477042664 | ANKK1 | c.1434G>T (p.Arg478=) c.1467G>T (p.Arg489=) c.1437G>T (p.Arg479=) c.1245G>T (p.Arg415=) c.1464G>T (p.Arg488=) | gnomAD v4 |
| 11 | g.113399404C>A | CA382645155 | ANKK1 | c.1435C>A (p.Leu479Ile) c.1468C>A (p.Leu490Ile) c.1438C>A (p.Leu480Ile) c.1246C>A (p.Leu416Ile) c.1465C>A (p.Leu489Ile) | gnomAD v4 |
| 11 | g.113399404C= | CA2001152232 | ANKK1 | c.1435C= (p.Leu479=) c.1468C= (p.Leu490=) c.1438C= (p.Leu480=) c.1246C= (p.Leu416=) c.1465C= (p.Leu489=) | |
| 11 | g.113399404C>G | CA382645156 | ANKK1 | c.1435C>G (p.Leu479Val) c.1468C>G (p.Leu490Val) c.1438C>G (p.Leu480Val) c.1246C>G (p.Leu416Val) c.1465C>G (p.Leu489Val) | dbSNP |
| 11 | g.113399404C>T | CA382645157 | ANKK1 | c.1435C>T (p.Leu479Phe) c.1468C>T (p.Leu490Phe) c.1438C>T (p.Leu480Phe) c.1246C>T (p.Leu416Phe) c.1465C>T (p.Leu489Phe) | |
| 11 | g.113399405T>A | CA382645158 | ANKK1 | c.1436T>A (p.Leu479His) c.1469T>A (p.Leu490His) c.1439T>A (p.Leu480His) c.1247T>A (p.Leu416His) c.1466T>A (p.Leu489His) | |
| 11 | g.113399405T>C | CA382645160 | ANKK1 | c.1436T>C (p.Leu479Pro) c.1469T>C (p.Leu490Pro) c.1439T>C (p.Leu480Pro) c.1247T>C (p.Leu416Pro) c.1466T>C (p.Leu489Pro) | |
| 11 | g.113399405T>G | CA382645159 | ANKK1 | c.1436T>G (p.Leu479Arg) c.1469T>G (p.Leu490Arg) c.1439T>G (p.Leu480Arg) c.1247T>G (p.Leu416Arg) c.1466T>G (p.Leu489Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399405T= | CA2001152237 | ANKK1 | c.1436T= (p.Leu479=) c.1469T= (p.Leu490=) c.1439T= (p.Leu480=) c.1247T= (p.Leu416=) c.1466T= (p.Leu489=) | |
| 11 | g.113399406T>A | CA477042669 | ANKK1 | c.1437T>A (p.Leu479=) c.1470T>A (p.Leu490=) c.1440T>A (p.Leu480=) c.1248T>A (p.Leu416=) c.1467T>A (p.Leu489=) | |
| 11 | g.113399406T>C | CA477042675 | ANKK1 | c.1437T>C (p.Leu479=) c.1470T>C (p.Leu490=) c.1440T>C (p.Leu480=) c.1248T>C (p.Leu416=) c.1467T>C (p.Leu489=) | gnomAD v4 |
| 11 | g.113399406T>G | CA477042671 | ANKK1 | c.1437T>G (p.Leu479=) c.1470T>G (p.Leu490=) c.1440T>G (p.Leu480=) c.1248T>G (p.Leu416=) c.1467T>G (p.Leu489=) | |
| 11 | g.113399407C>A | CA382645161 | ANKK1 | c.1438C>A (p.Leu480Met) c.1471C>A (p.Leu491Met) c.1441C>A (p.Leu481Met) c.1249C>A (p.Leu417Met) c.1468C>A (p.Leu490Met) | |
| 11 | g.113399407C>G | CA382645162 | ANKK1 | c.1438C>G (p.Leu480Val) c.1471C>G (p.Leu491Val) c.1441C>G (p.Leu481Val) c.1249C>G (p.Leu417Val) c.1468C>G (p.Leu490Val) | gnomAD v4 |
| 11 | g.113399407C>T | CA477042678 | ANKK1 | c.1438C>T (p.Leu480=) c.1471C>T (p.Leu491=) c.1441C>T (p.Leu481=) c.1249C>T (p.Leu417=) c.1468C>T (p.Leu490=) | gnomAD v4 |
| 11 | g.113399408T>A | CA382645163 | ANKK1 | c.1439T>A (p.Leu480Gln) c.1472T>A (p.Leu491Gln) c.1442T>A (p.Leu481Gln) c.1250T>A (p.Leu417Gln) c.1469T>A (p.Leu490Gln) | |
| 11 | g.113399408T>C | CA382645164 | ANKK1 | c.1439T>C (p.Leu480Pro) c.1472T>C (p.Leu491Pro) c.1442T>C (p.Leu481Pro) c.1250T>C (p.Leu417Pro) c.1469T>C (p.Leu490Pro) | COSMIC |
| 11 | g.113399408T>G | CA382645165 | ANKK1 | c.1439T>G (p.Leu480Arg) c.1472T>G (p.Leu491Arg) c.1442T>G (p.Leu481Arg) c.1250T>G (p.Leu417Arg) c.1469T>G (p.Leu490Arg) | |
| 11 | g.113399409G>A | CA477042682 | ANKK1 | c.1440G>A (p.Leu480=) c.1473G>A (p.Leu491=) c.1443G>A (p.Leu481=) c.1251G>A (p.Leu417=) c.1470G>A (p.Leu490=) | |
| 11 | g.113399409G>C | CA477042683 | ANKK1 | c.1440G>C (p.Leu480=) c.1473G>C (p.Leu491=) c.1443G>C (p.Leu481=) c.1251G>C (p.Leu417=) c.1470G>C (p.Leu490=) | |
| 11 | g.113399409G>T | CA477042685 | ANKK1 | c.1440G>T (p.Leu480=) c.1473G>T (p.Leu491=) c.1443G>T (p.Leu481=) c.1251G>T (p.Leu417=) c.1470G>T (p.Leu490=) | gnomAD v4 |
| 11 | g.113399410G>A | CA228615308 | ANKK1 | c.1441G>A (p.Val481Ile) c.1474G>A (p.Val492Ile) c.1444G>A (p.Val482Ile) c.1252G>A (p.Val418Ile) c.1471G>A (p.Val491Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399410G>C | CA382645166 | ANKK1 | c.1441G>C (p.Val481Leu) c.1474G>C (p.Val492Leu) c.1444G>C (p.Val482Leu) c.1252G>C (p.Val418Leu) c.1471G>C (p.Val491Leu) | |
| 11 | g.113399410G= | CA2001152243 | ANKK1 | c.1441G= (p.Val481=) c.1474G= (p.Val492=) c.1444G= (p.Val482=) c.1252G= (p.Val418=) c.1471G= (p.Val491=) | |
| 11 | g.113399410G>T | CA6280946 | ANKK1 | c.1441G>T (p.Val481Phe) c.1474G>T (p.Val492Phe) c.1444G>T (p.Val482Phe) c.1252G>T (p.Val418Phe) c.1471G>T (p.Val491Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113399411T>A | CA382645167 | ANKK1 | c.1442T>A (p.Val481Asp) c.1475T>A (p.Val492Asp) c.1445T>A (p.Val482Asp) c.1253T>A (p.Val418Asp) c.1472T>A (p.Val491Asp) | |
| 11 | g.113399411T>C | CA382645168 | ANKK1 | c.1442T>C (p.Val481Ala) c.1475T>C (p.Val492Ala) c.1445T>C (p.Val482Ala) c.1253T>C (p.Val418Ala) c.1472T>C (p.Val491Ala) | |
| 11 | g.113399411T>G | CA382645169 | ANKK1 | c.1442T>G (p.Val481Gly) c.1475T>G (p.Val492Gly) c.1445T>G (p.Val482Gly) c.1253T>G (p.Val418Gly) c.1472T>G (p.Val491Gly) | |
| 11 | g.113399412C>A | CA477042690 | ANKK1 | c.1443C>A (p.Val481=) c.1476C>A (p.Val492=) c.1446C>A (p.Val482=) c.1254C>A (p.Val418=) c.1473C>A (p.Val491=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113399412C= | CA2001152248 | ANKK1 | c.1443C= (p.Val481=) c.1476C= (p.Val492=) c.1446C= (p.Val482=) c.1254C= (p.Val418=) c.1473C= (p.Val491=) | |
| 11 | g.113399412C>G | CA477042693 | ANKK1 | c.1443C>G (p.Val481=) c.1476C>G (p.Val492=) c.1446C>G (p.Val482=) c.1254C>G (p.Val418=) c.1473C>G (p.Val491=) | gnomAD v4 |
| 11 | g.113399412C>T | CA477042696 | ANKK1 | c.1443C>T (p.Val481=) c.1476C>T (p.Val492=) c.1446C>T (p.Val482=) c.1254C>T (p.Val418=) c.1473C>T (p.Val491=) | |
| 11 | g.113399413T>A | CA382645170 | ANKK1 | c.1444T>A (p.Ser482Thr) c.1477T>A (p.Ser493Thr) c.1447T>A (p.Ser483Thr) c.1255T>A (p.Ser419Thr) c.1474T>A (p.Ser492Thr) | |
| 11 | g.113399413T>C | CA382645172 | ANKK1 | c.1444T>C (p.Ser482Pro) c.1477T>C (p.Ser493Pro) c.1447T>C (p.Ser483Pro) c.1255T>C (p.Ser419Pro) c.1474T>C (p.Ser492Pro) | |
| 11 | g.113399413T>G | CA382645171 | ANKK1 | c.1444T>G (p.Ser482Ala) c.1477T>G (p.Ser493Ala) c.1447T>G (p.Ser483Ala) c.1255T>G (p.Ser419Ala) c.1474T>G (p.Ser492Ala) |