| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.113399198T>A | CA6280904 | ANKK1 | c.1229T>A (p.Leu410His) c.1262T>A (p.Leu421His) c.1232T>A (p.Leu411His) c.1040T>A (p.Leu347His) c.1259T>A (p.Leu420His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113399198T>C | CA382644552 | ANKK1 | c.1229T>C (p.Leu410Pro) c.1262T>C (p.Leu421Pro) c.1232T>C (p.Leu411Pro) c.1040T>C (p.Leu347Pro) c.1259T>C (p.Leu420Pro) | |
| 11 | g.113399198T>G | CA382644553 | ANKK1 | c.1229T>G (p.Leu410Arg) c.1262T>G (p.Leu421Arg) c.1232T>G (p.Leu411Arg) c.1040T>G (p.Leu347Arg) c.1259T>G (p.Leu420Arg) | |
| 11 | g.113399198T= | CA2001151824 | ANKK1 | c.1229T= (p.Leu410=) c.1262T= (p.Leu421=) c.1232T= (p.Leu411=) c.1040T= (p.Leu347=) c.1259T= (p.Leu420=) | |
| 11 | g.113399199C>A | CA477042761 | ANKK1 | c.1230C>A (p.Leu410=) c.1263C>A (p.Leu421=) c.1233C>A (p.Leu411=) c.1041C>A (p.Leu347=) c.1260C>A (p.Leu420=) | gnomAD v4 |
| 11 | g.113399199C>G | CA477042762 | ANKK1 | c.1230C>G (p.Leu410=) c.1263C>G (p.Leu421=) c.1233C>G (p.Leu411=) c.1041C>G (p.Leu347=) c.1260C>G (p.Leu420=) | |
| 11 | g.113399199C>T | CA477042764 | ANKK1 | c.1230C>T (p.Leu410=) c.1263C>T (p.Leu421=) c.1233C>T (p.Leu411=) c.1041C>T (p.Leu347=) c.1260C>T (p.Leu420=) | |
| 11 | g.113399200T>A | CA382644554 | ANKK1 | c.1231T>A (p.Cys411Ser) c.1264T>A (p.Cys422Ser) c.1234T>A (p.Cys412Ser) c.1042T>A (p.Cys348Ser) c.1261T>A (p.Cys421Ser) | dbSNP gnomAD v4 |
| 11 | g.113399200T>C | CA382644555 | ANKK1 | c.1231T>C (p.Cys411Arg) c.1264T>C (p.Cys422Arg) c.1234T>C (p.Cys412Arg) c.1042T>C (p.Cys348Arg) c.1261T>C (p.Cys421Arg) | |
| 11 | g.113399200T>G | CA382644556 | ANKK1 | c.1231T>G (p.Cys411Gly) c.1264T>G (p.Cys422Gly) c.1234T>G (p.Cys412Gly) c.1042T>G (p.Cys348Gly) c.1261T>G (p.Cys421Gly) | |
| 11 | g.113399200T= | CA2001151827 | ANKK1 | c.1231T= (p.Cys411=) c.1264T= (p.Cys422=) c.1234T= (p.Cys412=) c.1042T= (p.Cys348=) c.1261T= (p.Cys421=) | |
| 11 | g.113399201G>A | CA6280905 | ANKK1 | c.1232G>A (p.Cys411Tyr) c.1265G>A (p.Cys422Tyr) c.1235G>A (p.Cys412Tyr) c.1043G>A (p.Cys348Tyr) c.1262G>A (p.Cys421Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399201G>C | CA382644557 | ANKK1 | c.1232G>C (p.Cys411Ser) c.1265G>C (p.Cys422Ser) c.1235G>C (p.Cys412Ser) c.1043G>C (p.Cys348Ser) c.1262G>C (p.Cys421Ser) | |
| 11 | g.113399201G= | CA2001151832 | ANKK1 | c.1232G= (p.Cys411=) c.1265G= (p.Cys422=) c.1235G= (p.Cys412=) c.1043G= (p.Cys348=) c.1262G= (p.Cys421=) | |
| 11 | g.113399201G>T | CA382644558 | ANKK1 | c.1232G>T (p.Cys411Phe) c.1265G>T (p.Cys422Phe) c.1235G>T (p.Cys412Phe) c.1043G>T (p.Cys348Phe) c.1262G>T (p.Cys421Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113399202T>A | CA382644559 | ANKK1 | c.1233T>A (p.Cys411Ter) c.1266T>A (p.Cys422Ter) c.1236T>A (p.Cys412Ter) c.1044T>A (p.Cys348Ter) c.1263T>A (p.Cys421Ter) | |
| 11 | g.113399202T>C | CA477042769 | ANKK1 | c.1233T>C (p.Cys411=) c.1266T>C (p.Cys422=) c.1236T>C (p.Cys412=) c.1044T>C (p.Cys348=) c.1263T>C (p.Cys421=) | |
| 11 | g.113399202T>G | CA382644560 | ANKK1 | c.1233T>G (p.Cys411Trp) c.1266T>G (p.Cys422Trp) c.1236T>G (p.Cys412Trp) c.1044T>G (p.Cys348Trp) c.1263T>G (p.Cys421Trp) | |
| 11 | g.113399203G>A | CA382644561 | ANKK1 | c.1234G>A (p.Ala412Thr) c.1267G>A (p.Ala423Thr) c.1237G>A (p.Ala413Thr) c.1045G>A (p.Ala349Thr) c.1264G>A (p.Ala422Thr) | gnomAD v4 |
| 11 | g.113399203G>C | CA382644562 | ANKK1 | c.1234G>C (p.Ala412Pro) c.1267G>C (p.Ala423Pro) c.1237G>C (p.Ala413Pro) c.1045G>C (p.Ala349Pro) c.1264G>C (p.Ala422Pro) | |
| 11 | g.113399203G>T | CA382644563 | ANKK1 | c.1234G>T (p.Ala412Ser) c.1267G>T (p.Ala423Ser) c.1237G>T (p.Ala413Ser) c.1045G>T (p.Ala349Ser) c.1264G>T (p.Ala422Ser) | |
| 11 | g.113399204C>A | CA382644566 | ANKK1 | c.1235C>A (p.Ala412Asp) c.1268C>A (p.Ala423Asp) c.1238C>A (p.Ala413Asp) c.1046C>A (p.Ala349Asp) c.1265C>A (p.Ala422Asp) | gnomAD v4 |
| 11 | g.113399204C= | CA2001151837 | ANKK1 | c.1235C= (p.Ala412=) c.1268C= (p.Ala423=) c.1238C= (p.Ala413=) c.1046C= (p.Ala349=) c.1265C= (p.Ala422=) | |
| 11 | g.113399204C>G | CA382644565 | ANKK1 | c.1235C>G (p.Ala412Gly) c.1268C>G (p.Ala423Gly) c.1238C>G (p.Ala413Gly) c.1046C>G (p.Ala349Gly) c.1265C>G (p.Ala422Gly) | |
| 11 | g.113399204C>T | CA382644564 | ANKK1 | c.1235C>T (p.Ala412Val) c.1268C>T (p.Ala423Val) c.1238C>T (p.Ala413Val) c.1046C>T (p.Ala349Val) c.1265C>T (p.Ala422Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399206del | CA2616032680 | ANKK1 | c.1237del (p.Leu413CysfsTer?) c.1270del (p.Leu424CysfsTer?) c.1240del (p.Leu414CysfsTer?) c.1048del (p.Leu350CysfsTer?) c.1267del (p.Leu423CysfsTer?) | gnomAD v4 |
| 11 | g.113399205C>A | CA477042774 | ANKK1 | c.1236C>A (p.Ala412=) c.1269C>A (p.Ala423=) c.1239C>A (p.Ala413=) c.1047C>A (p.Ala349=) c.1266C>A (p.Ala422=) | |
| 11 | g.113399205C>G | CA477042776 | ANKK1 | c.1236C>G (p.Ala412=) c.1269C>G (p.Ala423=) c.1239C>G (p.Ala413=) c.1047C>G (p.Ala349=) c.1266C>G (p.Ala422=) | |
| 11 | g.113399205C>T | CA477042777 | ANKK1 | c.1236C>T (p.Ala412=) c.1269C>T (p.Ala423=) c.1239C>T (p.Ala413=) c.1047C>T (p.Ala349=) c.1266C>T (p.Ala422=) | gnomAD v4 |
| 11 | g.113399206C>A | CA382644567 | ANKK1 | c.1237C>A (p.Leu413Met) c.1270C>A (p.Leu424Met) c.1240C>A (p.Leu414Met) c.1048C>A (p.Leu350Met) c.1267C>A (p.Leu423Met) | gnomAD v4 |
| 11 | g.113399206C>G | CA382644568 | ANKK1 | c.1237C>G (p.Leu413Val) c.1270C>G (p.Leu424Val) c.1240C>G (p.Leu414Val) c.1048C>G (p.Leu350Val) c.1267C>G (p.Leu423Val) | |
| 11 | g.113399206C>T | CA477042778 | ANKK1 | c.1237C>T (p.Leu413=) c.1270C>T (p.Leu424=) c.1240C>T (p.Leu414=) c.1048C>T (p.Leu350=) c.1267C>T (p.Leu423=) | |
| 11 | g.113399207T>A | CA382644569 | ANKK1 | c.1238T>A (p.Leu413Gln) c.1271T>A (p.Leu424Gln) c.1241T>A (p.Leu414Gln) c.1049T>A (p.Leu350Gln) c.1268T>A (p.Leu423Gln) | |
| 11 | g.113399207T>C | CA382644570 | ANKK1 | c.1238T>C (p.Leu413Pro) c.1271T>C (p.Leu424Pro) c.1241T>C (p.Leu414Pro) c.1049T>C (p.Leu350Pro) c.1268T>C (p.Leu423Pro) | |
| 11 | g.113399207T>G | CA382644571 | ANKK1 | c.1238T>G (p.Leu413Arg) c.1271T>G (p.Leu424Arg) c.1241T>G (p.Leu414Arg) c.1049T>G (p.Leu350Arg) c.1268T>G (p.Leu423Arg) | |
| 11 | g.113399208G>A | CA477042781 | ANKK1 | c.1239G>A (p.Leu413=) c.1272G>A (p.Leu424=) c.1242G>A (p.Leu414=) c.1050G>A (p.Leu350=) c.1269G>A (p.Leu423=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399208G>C | CA477042780 | ANKK1 | c.1239G>C (p.Leu413=) c.1272G>C (p.Leu424=) c.1242G>C (p.Leu414=) c.1050G>C (p.Leu350=) c.1269G>C (p.Leu423=) | |
| 11 | g.113399208G= | CA2001151840 | ANKK1 | c.1239G= (p.Leu413=) c.1272G= (p.Leu424=) c.1242G= (p.Leu414=) c.1050G= (p.Leu350=) c.1269G= (p.Leu423=) | |
| 11 | g.113399208G>T | CA477042779 | ANKK1 | c.1239G>T (p.Leu413=) c.1272G>T (p.Leu424=) c.1242G>T (p.Leu414=) c.1050G>T (p.Leu350=) c.1269G>T (p.Leu423=) | |
| 11 | g.113399209C>A | CA382644573 | ANKK1 | c.1240C>A (p.Leu414Ile) c.1273C>A (p.Leu425Ile) c.1243C>A (p.Leu415Ile) c.1051C>A (p.Leu351Ile) c.1270C>A (p.Leu424Ile) | gnomAD v4 |
| 11 | g.113399209C>G | CA382644574 | ANKK1 | c.1240C>G (p.Leu414Val) c.1273C>G (p.Leu425Val) c.1243C>G (p.Leu415Val) c.1051C>G (p.Leu351Val) c.1270C>G (p.Leu424Val) | |
| 11 | g.113399209C>T | CA382644575 | ANKK1 | c.1240C>T (p.Leu414Phe) c.1273C>T (p.Leu425Phe) c.1243C>T (p.Leu415Phe) c.1051C>T (p.Leu351Phe) c.1270C>T (p.Leu424Phe) | ClinVar gnomAD v4 COSMIC |
| 11 | g.113399209_113399210delinsCT | CA2001151843 | ANKK1 | c.1240_1241delinsCT (p.Leu414=) c.1273_1274delinsCT (p.Leu425=) c.1243_1244delinsCT (p.Leu415=) c.1051_1052delinsCT (p.Leu351=) c.1270_1271delinsCT (p.Leu424=) | |
| 11 | g.113399210T>A | CA382644576 | ANKK1 | c.1241T>A (p.Leu414His) c.1274T>A (p.Leu425His) c.1244T>A (p.Leu415His) c.1052T>A (p.Leu351His) c.1271T>A (p.Leu424His) | |
| 11 | g.113399210T>C | CA382644577 | ANKK1 | c.1241T>C (p.Leu414Pro) c.1274T>C (p.Leu425Pro) c.1244T>C (p.Leu415Pro) c.1052T>C (p.Leu351Pro) c.1271T>C (p.Leu424Pro) | |
| 11 | g.113399210T>G | CA382644578 | ANKK1 | c.1241T>G (p.Leu414Arg) c.1274T>G (p.Leu425Arg) c.1244T>G (p.Leu415Arg) c.1052T>G (p.Leu351Arg) c.1271T>G (p.Leu424Arg) | |
| 11 | g.113399213del | CA602135039 | ANKK1 | c.1244del (p.Leu415TrpfsTer?) c.1277del (p.Leu426TrpfsTer?) c.1247del (p.Leu416TrpfsTer?) c.1055del (p.Leu352TrpfsTer?) c.1274del (p.Leu425TrpfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399211T>A | CA477042787 | ANKK1 | c.1242T>A (p.Leu414=) c.1275T>A (p.Leu425=) c.1245T>A (p.Leu415=) c.1053T>A (p.Leu351=) c.1272T>A (p.Leu424=) | gnomAD v4 |
| 11 | g.113399211T>C | CA477042788 | ANKK1 | c.1242T>C (p.Leu414=) c.1275T>C (p.Leu425=) c.1245T>C (p.Leu415=) c.1053T>C (p.Leu351=) c.1272T>C (p.Leu424=) | |
| 11 | g.113399211T>G | CA477042789 | ANKK1 | c.1242T>G (p.Leu414=) c.1275T>G (p.Leu425=) c.1245T>G (p.Leu415=) c.1053T>G (p.Leu351=) c.1272T>G (p.Leu424=) | |
| 11 | g.113399212T>A | CA382644579 | ANKK1 | c.1243T>A (p.Leu415Met) c.1276T>A (p.Leu426Met) c.1246T>A (p.Leu416Met) c.1054T>A (p.Leu352Met) c.1273T>A (p.Leu425Met) | |
| 11 | g.113399212T>C | CA477042790 | ANKK1 | c.1243T>C (p.Leu415=) c.1276T>C (p.Leu426=) c.1246T>C (p.Leu416=) c.1054T>C (p.Leu352=) c.1273T>C (p.Leu425=) | |
| 11 | g.113399212T>G | CA382644580 | ANKK1 | c.1243T>G (p.Leu415Val) c.1276T>G (p.Leu426Val) c.1246T>G (p.Leu416Val) c.1054T>G (p.Leu352Val) c.1273T>G (p.Leu425Val) | |
| 11 | g.113399213T>A | CA382644581 | ANKK1 | c.1244T>A (p.Leu415Ter) c.1277T>A (p.Leu426Ter) c.1247T>A (p.Leu416Ter) c.1055T>A (p.Leu352Ter) c.1274T>A (p.Leu425Ter) | |
| 11 | g.113399213T>C | CA382644582 | ANKK1 | c.1244T>C (p.Leu415Ser) c.1277T>C (p.Leu426Ser) c.1247T>C (p.Leu416Ser) c.1055T>C (p.Leu352Ser) c.1274T>C (p.Leu425Ser) | |
| 11 | g.113399213T>G | CA382644583 | ANKK1 | c.1244T>G (p.Leu415Trp) c.1277T>G (p.Leu426Trp) c.1247T>G (p.Leu416Trp) c.1055T>G (p.Leu352Trp) c.1274T>G (p.Leu425Trp) | |
| 11 | g.113399214G>A | CA477042793 | ANKK1 | c.1245G>A (p.Leu415=) c.1278G>A (p.Leu426=) c.1248G>A (p.Leu416=) c.1056G>A (p.Leu352=) c.1275G>A (p.Leu425=) | |
| 11 | g.113399214G>C | CA382644584 | ANKK1 | c.1245G>C (p.Leu415Phe) c.1278G>C (p.Leu426Phe) c.1248G>C (p.Leu416Phe) c.1056G>C (p.Leu352Phe) c.1275G>C (p.Leu425Phe) | |
| 11 | g.113399214G>T | CA382644585 | ANKK1 | c.1245G>T (p.Leu415Phe) c.1278G>T (p.Leu426Phe) c.1248G>T (p.Leu416Phe) c.1056G>T (p.Leu352Phe) c.1275G>T (p.Leu425Phe) | |
| 11 | g.113399215G>A | CA382644586 | ANKK1 | c.1246G>A (p.Ala416Thr) c.1279G>A (p.Ala427Thr) c.1249G>A (p.Ala417Thr) c.1057G>A (p.Ala353Thr) c.1276G>A (p.Ala426Thr) | gnomAD v4 |
| 11 | g.113399215G>C | CA382644587 | ANKK1 | c.1246G>C (p.Ala416Pro) c.1279G>C (p.Ala427Pro) c.1249G>C (p.Ala417Pro) c.1057G>C (p.Ala353Pro) c.1276G>C (p.Ala426Pro) | |
| 11 | g.113399215G>T | CA382644588 | ANKK1 | c.1246G>T (p.Ala416Ser) c.1279G>T (p.Ala427Ser) c.1249G>T (p.Ala417Ser) c.1057G>T (p.Ala353Ser) c.1276G>T (p.Ala426Ser) | |
| 11 | g.113399216C>A | CA382644589 | ANKK1 | c.1247C>A (p.Ala416Glu) c.1280C>A (p.Ala427Glu) c.1250C>A (p.Ala417Glu) c.1058C>A (p.Ala353Glu) c.1277C>A (p.Ala426Glu) | gnomAD v4 |
| 11 | g.113399216C>G | CA382644590 | ANKK1 | c.1247C>G (p.Ala416Gly) c.1280C>G (p.Ala427Gly) c.1250C>G (p.Ala417Gly) c.1058C>G (p.Ala353Gly) c.1277C>G (p.Ala426Gly) | |
| 11 | g.113399216C>T | CA382644591 | ANKK1 | c.1247C>T (p.Ala416Val) c.1280C>T (p.Ala427Val) c.1250C>T (p.Ala417Val) c.1058C>T (p.Ala353Val) c.1277C>T (p.Ala426Val) | gnomAD v4 |
| 11 | g.113399217A>C | CA477042798 | ANKK1 | c.1248A>C (p.Ala416=) c.1281A>C (p.Ala427=) c.1251A>C (p.Ala417=) c.1059A>C (p.Ala353=) c.1278A>C (p.Ala426=) | |
| 11 | g.113399217A>G | CA477042799 | ANKK1 | c.1248A>G (p.Ala416=) c.1281A>G (p.Ala427=) c.1251A>G (p.Ala417=) c.1059A>G (p.Ala353=) c.1278A>G (p.Ala426=) | gnomAD v4 |
| 11 | g.113399217A>T | CA477042800 | ANKK1 | c.1248A>T (p.Ala416=) c.1281A>T (p.Ala427=) c.1251A>T (p.Ala417=) c.1059A>T (p.Ala353=) c.1278A>T (p.Ala426=) | |
| 11 | g.113399218C>A | CA382644593 | ANKK1 | c.1249C>A (p.His417Asn) c.1282C>A (p.His428Asn) c.1252C>A (p.His418Asn) c.1060C>A (p.His354Asn) c.1279C>A (p.His427Asn) | gnomAD v4 |
| 11 | g.113399218C= | CA2001151850 | ANKK1 | c.1249C= (p.His417=) c.1282C= (p.His428=) c.1252C= (p.His418=) c.1060C= (p.His354=) c.1279C= (p.His427=) | |
| 11 | g.113399218C>G | CA382644595 | ANKK1 | c.1249C>G (p.His417Asp) c.1282C>G (p.His428Asp) c.1252C>G (p.His418Asp) c.1060C>G (p.His354Asp) c.1279C>G (p.His427Asp) | |
| 11 | g.113399218C>T | CA382644596 | ANKK1 | c.1249C>T (p.His417Tyr) c.1282C>T (p.His428Tyr) c.1252C>T (p.His418Tyr) c.1060C>T (p.His354Tyr) c.1279C>T (p.His427Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399219A= | CA2001151853 | ANKK1 | c.1250A= (p.His417=) c.1283A= (p.His428=) c.1253A= (p.His418=) c.1061A= (p.His354=) c.1280A= (p.His427=) | |
| 11 | g.113399219A>C | CA382644597 | ANKK1 | c.1250A>C (p.His417Pro) c.1283A>C (p.His428Pro) c.1253A>C (p.His418Pro) c.1061A>C (p.His354Pro) c.1280A>C (p.His427Pro) | |
| 11 | g.113399219A>G | CA382644598 | ANKK1 | c.1250A>G (p.His417Arg) c.1283A>G (p.His428Arg) c.1253A>G (p.His418Arg) c.1061A>G (p.His354Arg) c.1280A>G (p.His427Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399219A>T | CA382644599 | ANKK1 | c.1250A>T (p.His417Leu) c.1283A>T (p.His428Leu) c.1253A>T (p.His418Leu) c.1061A>T (p.His354Leu) c.1280A>T (p.His427Leu) | |
| 11 | g.113399220T>A | CA6280906 | ANKK1 | c.1251T>A (p.His417Gln) c.1284T>A (p.His428Gln) c.1254T>A (p.His418Gln) c.1062T>A (p.His354Gln) c.1281T>A (p.His427Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399220T>C | CA477042805 | ANKK1 | c.1251T>C (p.His417=) c.1284T>C (p.His428=) c.1254T>C (p.His418=) c.1062T>C (p.His354=) c.1281T>C (p.His427=) | dbSNP |
| 11 | g.113399220T>G | CA382644600 | ANKK1 | c.1251T>G (p.His417Gln) c.1284T>G (p.His428Gln) c.1254T>G (p.His418Gln) c.1062T>G (p.His354Gln) c.1281T>G (p.His427Gln) | |
| 11 | g.113399220T= | CA2001151863 | ANKK1 | c.1251T= (p.His417=) c.1284T= (p.His428=) c.1254T= (p.His418=) c.1062T= (p.His354=) c.1281T= (p.His427=) | |
| 11 | g.113399221G>A | CA382644601 | ANKK1 | c.1252G>A (p.Gly418Ser) c.1285G>A (p.Gly429Ser) c.1255G>A (p.Gly419Ser) c.1063G>A (p.Gly355Ser) c.1282G>A (p.Gly428Ser) | dbSNP gnomAD v2 |
| 11 | g.113399221G>C | CA382644602 | ANKK1 | c.1252G>C (p.Gly418Arg) c.1285G>C (p.Gly429Arg) c.1255G>C (p.Gly419Arg) c.1063G>C (p.Gly355Arg) c.1282G>C (p.Gly428Arg) | |
| 11 | g.113399221G= | CA2001151866 | ANKK1 | c.1252G= (p.Gly418=) c.1285G= (p.Gly429=) c.1255G= (p.Gly419=) c.1063G= (p.Gly355=) c.1282G= (p.Gly428=) | |
| 11 | g.113399221G>T | CA382644603 | ANKK1 | c.1252G>T (p.Gly418Cys) c.1285G>T (p.Gly429Cys) c.1255G>T (p.Gly419Cys) c.1063G>T (p.Gly355Cys) c.1282G>T (p.Gly428Cys) | gnomAD v4 |
| 11 | g.113399222G>A | CA382644604 | ANKK1 | c.1253G>A (p.Gly418Asp) c.1286G>A (p.Gly429Asp) c.1256G>A (p.Gly419Asp) c.1064G>A (p.Gly355Asp) c.1283G>A (p.Gly428Asp) | dbSNP gnomAD v2 |
| 11 | g.113399222G>C | CA382644605 | ANKK1 | c.1253G>C (p.Gly418Ala) c.1286G>C (p.Gly429Ala) c.1256G>C (p.Gly419Ala) c.1064G>C (p.Gly355Ala) c.1283G>C (p.Gly428Ala) | |
| 11 | g.113399222G= | CA2001151870 | ANKK1 | c.1253G= (p.Gly418=) c.1286G= (p.Gly429=) c.1256G= (p.Gly419=) c.1064G= (p.Gly355=) c.1283G= (p.Gly428=) | |
| 11 | g.113399222G>T | CA382644606 | ANKK1 | c.1253G>T (p.Gly418Val) c.1286G>T (p.Gly429Val) c.1256G>T (p.Gly419Val) c.1064G>T (p.Gly355Val) c.1283G>T (p.Gly428Val) | gnomAD v4 |
| 11 | g.113399223T>A | CA477042812 | ANKK1 | c.1254T>A (p.Gly418=) c.1287T>A (p.Gly429=) c.1257T>A (p.Gly419=) c.1065T>A (p.Gly355=) c.1284T>A (p.Gly428=) | |
| 11 | g.113399223T>C | CA477042813 | ANKK1 | c.1254T>C (p.Gly418=) c.1287T>C (p.Gly429=) c.1257T>C (p.Gly419=) c.1065T>C (p.Gly355=) c.1284T>C (p.Gly428=) | |
| 11 | g.113399223T>G | CA477042814 | ANKK1 | c.1254T>G (p.Gly418=) c.1287T>G (p.Gly429=) c.1257T>G (p.Gly419=) c.1065T>G (p.Gly355=) c.1284T>G (p.Gly428=) | |
| 11 | g.113399224G>A | CA382644607 | ANKK1 | c.1255G>A (p.Ala419Thr) c.1288G>A (p.Ala430Thr) c.1258G>A (p.Ala420Thr) c.1066G>A (p.Ala356Thr) c.1285G>A (p.Ala429Thr) | |
| 11 | g.113399224G>C | CA382644608 | ANKK1 | c.1255G>C (p.Ala419Pro) c.1288G>C (p.Ala430Pro) c.1258G>C (p.Ala420Pro) c.1066G>C (p.Ala356Pro) c.1285G>C (p.Ala429Pro) | |
| 11 | g.113399224G>T | CA382644609 | ANKK1 | c.1255G>T (p.Ala419Ser) c.1288G>T (p.Ala430Ser) c.1258G>T (p.Ala420Ser) c.1066G>T (p.Ala356Ser) c.1285G>T (p.Ala429Ser) | gnomAD v4 |
| 11 | g.113399225C>A | CA382644610 | ANKK1 | c.1256C>A (p.Ala419Asp) c.1289C>A (p.Ala430Asp) c.1259C>A (p.Ala420Asp) c.1067C>A (p.Ala356Asp) c.1286C>A (p.Ala429Asp) | gnomAD v4 |
| 11 | g.113399225C>G | CA382644611 | ANKK1 | c.1256C>G (p.Ala419Gly) c.1289C>G (p.Ala430Gly) c.1259C>G (p.Ala420Gly) c.1067C>G (p.Ala356Gly) c.1286C>G (p.Ala429Gly) | |
| 11 | g.113399225C>T | CA382644612 | ANKK1 | c.1256C>T (p.Ala419Val) c.1289C>T (p.Ala430Val) c.1259C>T (p.Ala420Val) c.1067C>T (p.Ala356Val) c.1286C>T (p.Ala429Val) | |
| 11 | g.113399226T>A | CA477042820 | ANKK1 | c.1257T>A (p.Ala419=) c.1290T>A (p.Ala430=) c.1260T>A (p.Ala420=) c.1068T>A (p.Ala356=) c.1287T>A (p.Ala429=) | |
| 11 | g.113399226T>C | CA477042821 | ANKK1 | c.1257T>C (p.Ala419=) c.1290T>C (p.Ala430=) c.1260T>C (p.Ala420=) c.1068T>C (p.Ala356=) c.1287T>C (p.Ala429=) | dbSNP |
| 11 | g.113399226T>G | CA477042822 | ANKK1 | c.1257T>G (p.Ala419=) c.1290T>G (p.Ala430=) c.1260T>G (p.Ala420=) c.1068T>G (p.Ala356=) c.1287T>G (p.Ala429=) | |
| 11 | g.113399227G>A | CA382644614 | ANKK1 | c.1258G>A (p.Asp420Asn) c.1291G>A (p.Asp431Asn) c.1261G>A (p.Asp421Asn) c.1069G>A (p.Asp357Asn) c.1288G>A (p.Asp430Asn) | |
| 11 | g.113399227G>C | CA382644613 | ANKK1 | c.1258G>C (p.Asp420His) c.1291G>C (p.Asp431His) c.1261G>C (p.Asp421His) c.1069G>C (p.Asp357His) c.1288G>C (p.Asp430His) | |
| 11 | g.113399227G= | CA2001151872 | ANKK1 | c.1258G= (p.Asp420=) c.1291G= (p.Asp431=) c.1261G= (p.Asp421=) c.1069G= (p.Asp357=) c.1288G= (p.Asp430=) | |
| 11 | g.113399227G>T | CA6280907 | ANKK1 | c.1258G>T (p.Asp420Tyr) c.1291G>T (p.Asp431Tyr) c.1261G>T (p.Asp421Tyr) c.1069G>T (p.Asp357Tyr) c.1288G>T (p.Asp430Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113399228A= | CA2001151876 | ANKK1 | c.1259A= (p.Asp420=) c.1292A= (p.Asp431=) c.1262A= (p.Asp421=) c.1070A= (p.Asp357=) c.1289A= (p.Asp430=) | |
| 11 | g.113399228A>C | CA382644615 | ANKK1 | c.1259A>C (p.Asp420Ala) c.1292A>C (p.Asp431Ala) c.1262A>C (p.Asp421Ala) c.1070A>C (p.Asp357Ala) c.1289A>C (p.Asp430Ala) | |
| 11 | g.113399228A>G | CA382644616 | ANKK1 | c.1259A>G (p.Asp420Gly) c.1292A>G (p.Asp431Gly) c.1262A>G (p.Asp421Gly) c.1070A>G (p.Asp357Gly) c.1289A>G (p.Asp430Gly) | |
| 11 | g.113399228A>T | CA382644617 | ANKK1 | c.1259A>T (p.Asp420Val) c.1292A>T (p.Asp431Val) c.1262A>T (p.Asp421Val) c.1070A>T (p.Asp357Val) c.1289A>T (p.Asp430Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399229T>A | CA382644618 | ANKK1 | c.1260T>A (p.Asp420Glu) c.1293T>A (p.Asp431Glu) c.1263T>A (p.Asp421Glu) c.1071T>A (p.Asp357Glu) c.1290T>A (p.Asp430Glu) | |
| 11 | g.113399229T>C | CA6280908 | ANKK1 | c.1260T>C (p.Asp420=) c.1293T>C (p.Asp431=) c.1263T>C (p.Asp421=) c.1071T>C (p.Asp357=) c.1290T>C (p.Asp430=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113399229T>G | CA382644621 | ANKK1 | c.1260T>G (p.Asp420Glu) c.1293T>G (p.Asp431Glu) c.1263T>G (p.Asp421Glu) c.1071T>G (p.Asp357Glu) c.1290T>G (p.Asp430Glu) | |
| 11 | g.113399229T= | CA2001151879 | ANKK1 | c.1260T= (p.Asp420=) c.1293T= (p.Asp431=) c.1263T= (p.Asp421=) c.1071T= (p.Asp357=) c.1290T= (p.Asp430=) | |
| 11 | g.113399230G>A | CA382644622 | ANKK1 | c.1261G>A (p.Ala421Thr) c.1294G>A (p.Ala432Thr) c.1264G>A (p.Ala422Thr) c.1072G>A (p.Ala358Thr) c.1291G>A (p.Ala431Thr) | gnomAD v4 |
| 11 | g.113399230G>C | CA382644623 | ANKK1 | c.1261G>C (p.Ala421Pro) c.1294G>C (p.Ala432Pro) c.1264G>C (p.Ala422Pro) c.1072G>C (p.Ala358Pro) c.1291G>C (p.Ala431Pro) | |
| 11 | g.113399230G>T | CA382644624 | ANKK1 | c.1261G>T (p.Ala421Ser) c.1294G>T (p.Ala432Ser) c.1264G>T (p.Ala422Ser) c.1072G>T (p.Ala358Ser) c.1291G>T (p.Ala431Ser) | gnomAD v4 |
| 11 | g.113399231C>A | CA382644625 | ANKK1 | c.1262C>A (p.Ala421Asp) c.1295C>A (p.Ala432Asp) c.1265C>A (p.Ala422Asp) c.1073C>A (p.Ala358Asp) c.1292C>A (p.Ala431Asp) | gnomAD v4 |
| 11 | g.113399231C= | CA2001151882 | ANKK1 | c.1262C= (p.Ala421=) c.1295C= (p.Ala432=) c.1265C= (p.Ala422=) c.1073C= (p.Ala358=) c.1292C= (p.Ala431=) | |
| 11 | g.113399231C>G | CA382644626 | ANKK1 | c.1262C>G (p.Ala421Gly) c.1295C>G (p.Ala432Gly) c.1265C>G (p.Ala422Gly) c.1073C>G (p.Ala358Gly) c.1292C>G (p.Ala431Gly) | |
| 11 | g.113399231C>T | CA382644627 | ANKK1 | c.1262C>T (p.Ala421Val) c.1295C>T (p.Ala432Val) c.1265C>T (p.Ala422Val) c.1073C>T (p.Ala358Val) c.1292C>T (p.Ala431Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113399232C>A | CA477042834 | ANKK1 | c.1263C>A (p.Ala421=) c.1296C>A (p.Ala432=) c.1266C>A (p.Ala422=) c.1074C>A (p.Ala358=) c.1293C>A (p.Ala431=) | |
| 11 | g.113399232C>G | CA477042833 | ANKK1 | c.1263C>G (p.Ala421=) c.1296C>G (p.Ala432=) c.1266C>G (p.Ala422=) c.1074C>G (p.Ala358=) c.1293C>G (p.Ala431=) | |
| 11 | g.113399232C>T | CA477042832 | ANKK1 | c.1263C>T (p.Ala421=) c.1296C>T (p.Ala432=) c.1266C>T (p.Ala422=) c.1074C>T (p.Ala358=) c.1293C>T (p.Ala431=) | |
| 11 | g.113399233A>C | CA382644630 | ANKK1 | c.1264A>C (p.Asn422His) c.1297A>C (p.Asn433His) c.1267A>C (p.Asn423His) c.1075A>C (p.Asn359His) c.1294A>C (p.Asn432His) | |
| 11 | g.113399233A>G | CA382644629 | ANKK1 | c.1264A>G (p.Asn422Asp) c.1297A>G (p.Asn433Asp) c.1267A>G (p.Asn423Asp) c.1075A>G (p.Asn359Asp) c.1294A>G (p.Asn432Asp) | |
| 11 | g.113399233A>T | CA382644628 | ANKK1 | c.1264A>T (p.Asn422Tyr) c.1297A>T (p.Asn433Tyr) c.1267A>T (p.Asn423Tyr) c.1075A>T (p.Asn359Tyr) c.1294A>T (p.Asn432Tyr) | |
| 11 | g.113399234A>C | CA382644631 | ANKK1 | c.1265A>C (p.Asn422Thr) c.1298A>C (p.Asn433Thr) c.1268A>C (p.Asn423Thr) c.1076A>C (p.Asn359Thr) c.1295A>C (p.Asn432Thr) | |
| 11 | g.113399234A>G | CA382644633 | ANKK1 | c.1265A>G (p.Asn422Ser) c.1298A>G (p.Asn433Ser) c.1268A>G (p.Asn423Ser) c.1076A>G (p.Asn359Ser) c.1295A>G (p.Asn432Ser) | gnomAD v4 |
| 11 | g.113399234A>T | CA382644632 | ANKK1 | c.1265A>T (p.Asn422Ile) c.1298A>T (p.Asn433Ile) c.1268A>T (p.Asn423Ile) c.1076A>T (p.Asn359Ile) c.1295A>T (p.Asn432Ile) | |
| 11 | g.113399235C>A | CA382644634 | ANKK1 | c.1266C>A (p.Asn422Lys) c.1299C>A (p.Asn433Lys) c.1269C>A (p.Asn423Lys) c.1077C>A (p.Asn359Lys) c.1296C>A (p.Asn432Lys) | gnomAD v4 |
| 11 | g.113399235C= | CA2001151885 | ANKK1 | c.1266C= (p.Asn422=) c.1299C= (p.Asn433=) c.1269C= (p.Asn423=) c.1077C= (p.Asn359=) c.1296C= (p.Asn432=) | |
| 11 | g.113399235C>G | CA6280909 | ANKK1 | c.1266C>G (p.Asn422Lys) c.1299C>G (p.Asn433Lys) c.1269C>G (p.Asn423Lys) c.1077C>G (p.Asn359Lys) c.1296C>G (p.Asn432Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399235C>T | CA477042837 | ANKK1 | c.1266C>T (p.Asn422=) c.1299C>T (p.Asn433=) c.1269C>T (p.Asn423=) c.1077C>T (p.Asn359=) c.1296C>T (p.Asn432=) | dbSNP gnomAD v2 |
| 11 | g.113399236C>A | CA477042838 | ANKK1 | c.1267C>A (p.Arg423=) c.1300C>A (p.Arg434=) c.1270C>A (p.Arg424=) c.1078C>A (p.Arg360=) c.1297C>A (p.Arg433=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399236C= | CA2001151893 | ANKK1 | c.1267C= (p.Arg423=) c.1300C= (p.Arg434=) c.1270C= (p.Arg424=) c.1078C= (p.Arg360=) c.1297C= (p.Arg433=) | |
| 11 | g.113399236C>G | CA382644635 | ANKK1 | c.1267C>G (p.Arg423Gly) c.1300C>G (p.Arg434Gly) c.1270C>G (p.Arg424Gly) c.1078C>G (p.Arg360Gly) c.1297C>G (p.Arg433Gly) | |
| 11 | g.113399236C>T | CA6280910 | ANKK1 | c.1267C>T (p.Arg423Ter) c.1300C>T (p.Arg434Ter) c.1270C>T (p.Arg424Ter) c.1078C>T (p.Arg360Ter) c.1297C>T (p.Arg433Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399237G>A | CA6280911 | ANKK1 | c.1268G>A (p.Arg423Gln) c.1301G>A (p.Arg434Gln) c.1271G>A (p.Arg424Gln) c.1079G>A (p.Arg360Gln) c.1298G>A (p.Arg433Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399237G>C | CA382644636 | ANKK1 | c.1268G>C (p.Arg423Pro) c.1301G>C (p.Arg434Pro) c.1271G>C (p.Arg424Pro) c.1079G>C (p.Arg360Pro) c.1298G>C (p.Arg433Pro) | |
| 11 | g.113399237G= | CA2001151899 | ANKK1 | c.1268G= (p.Arg423=) c.1301G= (p.Arg434=) c.1271G= (p.Arg424=) c.1079G= (p.Arg360=) c.1298G= (p.Arg433=) | |
| 11 | g.113399237G>T | CA382644637 | ANKK1 | c.1268G>T (p.Arg423Leu) c.1301G>T (p.Arg434Leu) c.1271G>T (p.Arg424Leu) c.1079G>T (p.Arg360Leu) c.1298G>T (p.Arg433Leu) | |
| 11 | g.113399238A= | CA2001151904 | ANKK1 | c.1269A= (p.Arg423=) c.1302A= (p.Arg434=) c.1272A= (p.Arg424=) c.1080A= (p.Arg360=) c.1299A= (p.Arg433=) | |
| 11 | g.113399238A>C | CA477042841 | ANKK1 | c.1269A>C (p.Arg423=) c.1302A>C (p.Arg434=) c.1272A>C (p.Arg424=) c.1080A>C (p.Arg360=) c.1299A>C (p.Arg433=) | |
| 11 | g.113399238A>G | CA228615155 | ANKK1 | c.1269A>G (p.Arg423=) c.1302A>G (p.Arg434=) c.1272A>G (p.Arg424=) c.1080A>G (p.Arg360=) c.1299A>G (p.Arg433=) | dbSNP |
| 11 | g.113399238A>T | CA477042842 | ANKK1 | c.1269A>T (p.Arg423=) c.1302A>T (p.Arg434=) c.1272A>T (p.Arg424=) c.1080A>T (p.Arg360=) c.1299A>T (p.Arg433=) | |
| 11 | g.113399239G>A | CA382644638 | ANKK1 | c.1270G>A (p.Val424Met) c.1303G>A (p.Val435Met) c.1273G>A (p.Val425Met) c.1081G>A (p.Val361Met) c.1300G>A (p.Val434Met) | |
| 11 | g.113399239G>C | CA382644639 | ANKK1 | c.1270G>C (p.Val424Leu) c.1303G>C (p.Val435Leu) c.1273G>C (p.Val425Leu) c.1081G>C (p.Val361Leu) c.1300G>C (p.Val434Leu) | gnomAD v4 |
| 11 | g.113399239G>T | CA382644640 | ANKK1 | c.1270G>T (p.Val424Leu) c.1303G>T (p.Val435Leu) c.1273G>T (p.Val425Leu) c.1081G>T (p.Val361Leu) c.1300G>T (p.Val434Leu) | |
| 11 | g.113399240T>A | CA382644641 | ANKK1 | c.1271T>A (p.Val424Glu) c.1304T>A (p.Val435Glu) c.1274T>A (p.Val425Glu) c.1082T>A (p.Val361Glu) c.1301T>A (p.Val434Glu) | |
| 11 | g.113399240T>C | CA382644642 | ANKK1 | c.1271T>C (p.Val424Ala) c.1304T>C (p.Val435Ala) c.1274T>C (p.Val425Ala) c.1082T>C (p.Val361Ala) c.1301T>C (p.Val434Ala) | dbSNP gnomAD v2 |
| 11 | g.113399240T>G | CA382644643 | ANKK1 | c.1271T>G (p.Val424Gly) c.1304T>G (p.Val435Gly) c.1274T>G (p.Val425Gly) c.1082T>G (p.Val361Gly) c.1301T>G (p.Val434Gly) | |
| 11 | g.113399240T= | CA2001151911 | ANKK1 | c.1271T= (p.Val424=) c.1304T= (p.Val435=) c.1274T= (p.Val425=) c.1082T= (p.Val361=) c.1301T= (p.Val434=) | |
| 11 | g.113399241G>A | CA6280912 | ANKK1 | c.1272G>A (p.Val424=) c.1305G>A (p.Val435=) c.1275G>A (p.Val425=) c.1083G>A (p.Val361=) c.1302G>A (p.Val434=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.113399241G>C | CA477042843 | ANKK1 | c.1272G>C (p.Val424=) c.1305G>C (p.Val435=) c.1275G>C (p.Val425=) c.1083G>C (p.Val361=) c.1302G>C (p.Val434=) | |
| 11 | g.113399241G= | CA2001151913 | ANKK1 | c.1272G= (p.Val424=) c.1305G= (p.Val435=) c.1275G= (p.Val425=) c.1083G= (p.Val361=) c.1302G= (p.Val434=) | |
| 11 | g.113399241G>T | CA477042845 | ANKK1 | c.1272G>T (p.Val424=) c.1305G>T (p.Val435=) c.1275G>T (p.Val425=) c.1083G>T (p.Val361=) c.1302G>T (p.Val434=) | gnomAD v4 |
| 11 | g.113399242G>A | CA382644646 | ANKK1 | c.1273G>A (p.Asp425Asn) c.1306G>A (p.Asp436Asn) c.1276G>A (p.Asp426Asn) c.1084G>A (p.Asp362Asn) c.1303G>A (p.Asp435Asn) | |
| 11 | g.113399242G>C | CA382644644 | ANKK1 | c.1273G>C (p.Asp425His) c.1306G>C (p.Asp436His) c.1276G>C (p.Asp426His) c.1084G>C (p.Asp362His) c.1303G>C (p.Asp435His) | |
| 11 | g.113399242G>T | CA382644645 | ANKK1 | c.1273G>T (p.Asp425Tyr) c.1306G>T (p.Asp436Tyr) c.1276G>T (p.Asp426Tyr) c.1084G>T (p.Asp362Tyr) c.1303G>T (p.Asp435Tyr) | |
| 11 | g.113399243A>C | CA382644647 | ANKK1 | c.1274A>C (p.Asp425Ala) c.1307A>C (p.Asp436Ala) c.1277A>C (p.Asp426Ala) c.1085A>C (p.Asp362Ala) c.1304A>C (p.Asp435Ala) | |
| 11 | g.113399243A>G | CA382644648 | ANKK1 | c.1274A>G (p.Asp425Gly) c.1307A>G (p.Asp436Gly) c.1277A>G (p.Asp426Gly) c.1085A>G (p.Asp362Gly) c.1304A>G (p.Asp435Gly) | gnomAD v4 |
| 11 | g.113399243A>T | CA382644649 | ANKK1 | c.1274A>T (p.Asp425Val) c.1307A>T (p.Asp436Val) c.1277A>T (p.Asp426Val) c.1085A>T (p.Asp362Val) c.1304A>T (p.Asp435Val) | |
| 11 | g.113399244T>A | CA382644650 | ANKK1 | c.1275T>A (p.Asp425Glu) c.1308T>A (p.Asp436Glu) c.1278T>A (p.Asp426Glu) c.1086T>A (p.Asp362Glu) c.1305T>A (p.Asp435Glu) | |
| 11 | g.113399244T>C | CA477042848 | ANKK1 | c.1275T>C (p.Asp425=) c.1308T>C (p.Asp436=) c.1278T>C (p.Asp426=) c.1086T>C (p.Asp362=) c.1305T>C (p.Asp435=) | |
| 11 | g.113399244T>G | CA382644651 | ANKK1 | c.1275T>G (p.Asp425Glu) c.1308T>G (p.Asp436Glu) c.1278T>G (p.Asp426Glu) c.1086T>G (p.Asp362Glu) c.1305T>G (p.Asp435Glu) | |
| 11 | g.113399245G>A | CA6280913 | ANKK1 | c.1276G>A (p.Glu426Lys) c.1309G>A (p.Glu437Lys) c.1279G>A (p.Glu427Lys) c.1087G>A (p.Glu363Lys) c.1306G>A (p.Glu436Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399245G>C | CA382644652 | ANKK1 | c.1276G>C (p.Glu426Gln) c.1309G>C (p.Glu437Gln) c.1279G>C (p.Glu427Gln) c.1087G>C (p.Glu363Gln) c.1306G>C (p.Glu436Gln) | |
| 11 | g.113399245G= | CA2001151916 | ANKK1 | c.1276G= (p.Glu426=) c.1309G= (p.Glu437=) c.1279G= (p.Glu427=) c.1087G= (p.Glu363=) c.1306G= (p.Glu436=) | |
| 11 | g.113399245G>T | CA382644653 | ANKK1 | c.1276G>T (p.Glu426Ter) c.1309G>T (p.Glu437Ter) c.1279G>T (p.Glu427Ter) c.1087G>T (p.Glu363Ter) c.1306G>T (p.Glu436Ter) | |
| 11 | g.113399246A>C | CA382644654 | ANKK1 | c.1277A>C (p.Glu426Ala) c.1310A>C (p.Glu437Ala) c.1280A>C (p.Glu427Ala) c.1088A>C (p.Glu363Ala) c.1307A>C (p.Glu436Ala) | |
| 11 | g.113399246A>G | CA382644655 | ANKK1 | c.1277A>G (p.Glu426Gly) c.1310A>G (p.Glu437Gly) c.1280A>G (p.Glu427Gly) c.1088A>G (p.Glu363Gly) c.1307A>G (p.Glu436Gly) | |
| 11 | g.113399246A>T | CA382644656 | ANKK1 | c.1277A>T (p.Glu426Val) c.1310A>T (p.Glu437Val) c.1280A>T (p.Glu427Val) c.1088A>T (p.Glu363Val) c.1307A>T (p.Glu436Val) | |
| 11 | g.113399247G>A | CA477042852 | ANKK1 | c.1278G>A (p.Glu426=) c.1311G>A (p.Glu437=) c.1281G>A (p.Glu427=) c.1089G>A (p.Glu363=) c.1308G>A (p.Glu436=) | gnomAD v4 |
| 11 | g.113399247G>C | CA382644658 | ANKK1 | c.1278G>C (p.Glu426Asp) c.1311G>C (p.Glu437Asp) c.1281G>C (p.Glu427Asp) c.1089G>C (p.Glu363Asp) c.1308G>C (p.Glu436Asp) | |
| 11 | g.113399247G>T | CA382644657 | ANKK1 | c.1278G>T (p.Glu426Asp) c.1311G>T (p.Glu437Asp) c.1281G>T (p.Glu427Asp) c.1089G>T (p.Glu363Asp) c.1308G>T (p.Glu436Asp) | gnomAD v4 |
| 11 | g.113399248G>A | CA6280914 | ANKK1 | c.1279G>A (p.Asp427Asn) c.1312G>A (p.Asp438Asn) c.1282G>A (p.Asp428Asn) c.1090G>A (p.Asp364Asn) c.1309G>A (p.Asp437Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399248G>C | CA382644659 | ANKK1 | c.1279G>C (p.Asp427His) c.1312G>C (p.Asp438His) c.1282G>C (p.Asp428His) c.1090G>C (p.Asp364His) c.1309G>C (p.Asp437His) | |
| 11 | g.113399248G= | CA2001151920 | ANKK1 | c.1279G= (p.Asp427=) c.1312G= (p.Asp438=) c.1282G= (p.Asp428=) c.1090G= (p.Asp364=) c.1309G= (p.Asp437=) | |
| 11 | g.113399248G>T | CA382644660 | ANKK1 | c.1279G>T (p.Asp427Tyr) c.1312G>T (p.Asp438Tyr) c.1282G>T (p.Asp428Tyr) c.1090G>T (p.Asp364Tyr) c.1309G>T (p.Asp437Tyr) | |
| 11 | g.113399249A>C | CA382644661 | ANKK1 | c.1280A>C (p.Asp427Ala) c.1313A>C (p.Asp438Ala) c.1283A>C (p.Asp428Ala) c.1091A>C (p.Asp364Ala) c.1310A>C (p.Asp437Ala) | |
| 11 | g.113399249A>G | CA382644662 | ANKK1 | c.1280A>G (p.Asp427Gly) c.1313A>G (p.Asp438Gly) c.1283A>G (p.Asp428Gly) c.1091A>G (p.Asp364Gly) c.1310A>G (p.Asp437Gly) | |
| 11 | g.113399249A>T | CA382644663 | ANKK1 | c.1280A>T (p.Asp427Val) c.1313A>T (p.Asp438Val) c.1283A>T (p.Asp428Val) c.1091A>T (p.Asp364Val) c.1310A>T (p.Asp437Val) | gnomAD v4 |
| 11 | g.113399250T>A | CA382644664 | ANKK1 | c.1281T>A (p.Asp427Glu) c.1314T>A (p.Asp438Glu) c.1284T>A (p.Asp428Glu) c.1092T>A (p.Asp364Glu) c.1311T>A (p.Asp437Glu) | |
| 11 | g.113399250T>C | CA6280915 | ANKK1 | c.1281T>C (p.Asp427=) c.1314T>C (p.Asp438=) c.1284T>C (p.Asp428=) c.1092T>C (p.Asp364=) c.1311T>C (p.Asp437=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113399250T>G | CA382644665 | ANKK1 | c.1281T>G (p.Asp427Glu) c.1314T>G (p.Asp438Glu) c.1284T>G (p.Asp428Glu) c.1092T>G (p.Asp364Glu) c.1311T>G (p.Asp437Glu) | |
| 11 | g.113399250T= | CA2001151925 | ANKK1 | c.1281T= (p.Asp427=) c.1314T= (p.Asp438=) c.1284T= (p.Asp428=) c.1092T= (p.Asp364=) c.1311T= (p.Asp437=) | |
| 11 | g.113399251G>A | CA382644666 | ANKK1 | c.1282G>A (p.Gly428Ser) c.1315G>A (p.Gly439Ser) c.1285G>A (p.Gly429Ser) c.1093G>A (p.Gly365Ser) c.1312G>A (p.Gly438Ser) | gnomAD v4 |
| 11 | g.113399251G>C | CA382644667 | ANKK1 | c.1282G>C (p.Gly428Arg) c.1315G>C (p.Gly439Arg) c.1285G>C (p.Gly429Arg) c.1093G>C (p.Gly365Arg) c.1312G>C (p.Gly438Arg) | |
| 11 | g.113399251G>T | CA382644668 | ANKK1 | c.1282G>T (p.Gly428Cys) c.1315G>T (p.Gly439Cys) c.1285G>T (p.Gly429Cys) c.1093G>T (p.Gly365Cys) c.1312G>T (p.Gly438Cys) | |
| 11 | g.113399252G>A | CA382644670 | ANKK1 | c.1283G>A (p.Gly428Asp) c.1316G>A (p.Gly439Asp) c.1286G>A (p.Gly429Asp) c.1094G>A (p.Gly365Asp) c.1313G>A (p.Gly438Asp) | gnomAD v4 |
| 11 | g.113399252G>C | CA382644671 | ANKK1 | c.1283G>C (p.Gly428Ala) c.1316G>C (p.Gly439Ala) c.1286G>C (p.Gly429Ala) c.1094G>C (p.Gly365Ala) c.1313G>C (p.Gly438Ala) | |
| 11 | g.113399252G>T | CA382644669 | ANKK1 | c.1283G>T (p.Gly428Val) c.1316G>T (p.Gly439Val) c.1286G>T (p.Gly429Val) c.1094G>T (p.Gly365Val) c.1313G>T (p.Gly438Val) | gnomAD v4 |
| 11 | g.113399253C>A | CA477042860 | ANKK1 | c.1284C>A (p.Gly428=) c.1317C>A (p.Gly439=) c.1287C>A (p.Gly429=) c.1095C>A (p.Gly365=) c.1314C>A (p.Gly438=) | |
| 11 | g.113399253C= | CA2001151960 | ANKK1 | c.1284C= (p.Gly428=) c.1317C= (p.Gly439=) c.1287C= (p.Gly429=) c.1095C= (p.Gly365=) c.1314C= (p.Gly438=) | |
| 11 | g.113399253C>G | CA477042861 | ANKK1 | c.1284C>G (p.Gly428=) c.1317C>G (p.Gly439=) c.1287C>G (p.Gly429=) c.1095C>G (p.Gly365=) c.1314C>G (p.Gly438=) | |
| 11 | g.113399253C>T | CA6280916 | ANKK1 | c.1284C>T (p.Gly428=) c.1317C>T (p.Gly439=) c.1287C>T (p.Gly429=) c.1095C>T (p.Gly365=) c.1314C>T (p.Gly438=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399254T>A | CA382644672 | ANKK1 | c.1285T>A (p.Trp429Arg) c.1318T>A (p.Trp440Arg) c.1288T>A (p.Trp430Arg) c.1096T>A (p.Trp366Arg) c.1315T>A (p.Trp439Arg) | |
| 11 | g.113399254T>C | CA382644673 | ANKK1 | c.1285T>C (p.Trp429Arg) c.1318T>C (p.Trp440Arg) c.1288T>C (p.Trp430Arg) c.1096T>C (p.Trp366Arg) c.1315T>C (p.Trp439Arg) | |
| 11 | g.113399254T>G | CA382644674 | ANKK1 | c.1285T>G (p.Trp429Gly) c.1318T>G (p.Trp440Gly) c.1288T>G (p.Trp430Gly) c.1096T>G (p.Trp366Gly) c.1315T>G (p.Trp439Gly) | |
| 11 | g.113399255G>A | CA382644677 | ANKK1 | c.1286G>A (p.Trp429Ter) c.1319G>A (p.Trp440Ter) c.1289G>A (p.Trp430Ter) c.1097G>A (p.Trp366Ter) c.1316G>A (p.Trp439Ter) | dbSNP |
| 11 | g.113399255G>C | CA382644676 | ANKK1 | c.1286G>C (p.Trp429Ser) c.1319G>C (p.Trp440Ser) c.1289G>C (p.Trp430Ser) c.1097G>C (p.Trp366Ser) c.1316G>C (p.Trp439Ser) | |
| 11 | g.113399255G= | CA2001151963 | ANKK1 | c.1286G= (p.Trp429=) c.1319G= (p.Trp440=) c.1289G= (p.Trp430=) c.1097G= (p.Trp366=) c.1316G= (p.Trp439=) | |
| 11 | g.113399255G>T | CA382644675 | ANKK1 | c.1286G>T (p.Trp429Leu) c.1319G>T (p.Trp440Leu) c.1289G>T (p.Trp430Leu) c.1097G>T (p.Trp366Leu) c.1316G>T (p.Trp439Leu) | |
| 11 | g.113399256G>A | CA382644678 | ANKK1 | c.1287G>A (p.Trp429Ter) c.1320G>A (p.Trp440Ter) c.1290G>A (p.Trp430Ter) c.1098G>A (p.Trp366Ter) c.1317G>A (p.Trp439Ter) | gnomAD v4 |
| 11 | g.113399256G>C | CA382644679 | ANKK1 | c.1287G>C (p.Trp429Cys) c.1320G>C (p.Trp440Cys) c.1290G>C (p.Trp430Cys) c.1098G>C (p.Trp366Cys) c.1317G>C (p.Trp439Cys) | |
| 11 | g.113399256G>T | CA382644680 | ANKK1 | c.1287G>T (p.Trp429Cys) c.1320G>T (p.Trp440Cys) c.1290G>T (p.Trp430Cys) c.1098G>T (p.Trp366Cys) c.1317G>T (p.Trp439Cys) | gnomAD v4 |
| 11 | g.113399257G>A | CA382644681 | ANKK1 | c.1288G>A (p.Ala430Thr) c.1321G>A (p.Ala441Thr) c.1291G>A (p.Ala431Thr) c.1099G>A (p.Ala367Thr) c.1318G>A (p.Ala440Thr) | gnomAD v4 |
| 11 | g.113399257G>C | CA382644682 | ANKK1 | c.1288G>C (p.Ala430Pro) c.1321G>C (p.Ala441Pro) c.1291G>C (p.Ala431Pro) c.1099G>C (p.Ala367Pro) c.1318G>C (p.Ala440Pro) | |
| 11 | g.113399257G>T | CA382644683 | ANKK1 | c.1288G>T (p.Ala430Ser) c.1321G>T (p.Ala441Ser) c.1291G>T (p.Ala431Ser) c.1099G>T (p.Ala367Ser) c.1318G>T (p.Ala440Ser) | |
| 11 | g.113399258C>A | CA382644686 | ANKK1 | c.1289C>A (p.Ala430Asp) c.1322C>A (p.Ala441Asp) c.1292C>A (p.Ala431Asp) c.1100C>A (p.Ala367Asp) c.1319C>A (p.Ala440Asp) | gnomAD v4 |
| 11 | g.113399258C>G | CA382644685 | ANKK1 | c.1289C>G (p.Ala430Gly) c.1322C>G (p.Ala441Gly) c.1292C>G (p.Ala431Gly) c.1100C>G (p.Ala367Gly) c.1319C>G (p.Ala440Gly) | |
| 11 | g.113399258C>T | CA382644684 | ANKK1 | c.1289C>T (p.Ala430Val) c.1322C>T (p.Ala441Val) c.1292C>T (p.Ala431Val) c.1100C>T (p.Ala367Val) c.1319C>T (p.Ala440Val) | |
| 11 | g.113399261del | CA2616032760 | ANKK1 | c.1292del (p.Pro431HisfsTer?) c.1325del (p.Pro442HisfsTer?) c.1295del (p.Pro432HisfsTer?) c.1103del (p.Pro368HisfsTer?) c.1322del (p.Pro441HisfsTer?) | gnomAD v4 |
| 11 | g.113399259C>A | CA477042870 | ANKK1 | c.1290C>A (p.Ala430=) c.1323C>A (p.Ala441=) c.1293C>A (p.Ala431=) c.1101C>A (p.Ala367=) c.1320C>A (p.Ala440=) | gnomAD v4 |
| 11 | g.113399259C>G | CA477042871 | ANKK1 | c.1290C>G (p.Ala430=) c.1323C>G (p.Ala441=) c.1293C>G (p.Ala431=) c.1101C>G (p.Ala367=) c.1320C>G (p.Ala440=) | |
| 11 | g.113399259C>T | CA477042872 | ANKK1 | c.1290C>T (p.Ala430=) c.1323C>T (p.Ala441=) c.1293C>T (p.Ala431=) c.1101C>T (p.Ala367=) c.1320C>T (p.Ala440=) | |
| 11 | g.113399260C>A | CA382644687 | ANKK1 | c.1291C>A (p.Pro431Thr) c.1324C>A (p.Pro442Thr) c.1294C>A (p.Pro432Thr) c.1102C>A (p.Pro368Thr) c.1321C>A (p.Pro441Thr) | |
| 11 | g.113399260C= | CA2001151966 | ANKK1 | c.1291C= (p.Pro431=) c.1324C= (p.Pro442=) c.1294C= (p.Pro432=) c.1102C= (p.Pro368=) c.1321C= (p.Pro441=) | |
| 11 | g.113399260C>G | CA382644689 | ANKK1 | c.1291C>G (p.Pro431Ala) c.1324C>G (p.Pro442Ala) c.1294C>G (p.Pro432Ala) c.1102C>G (p.Pro368Ala) c.1321C>G (p.Pro441Ala) | |
| 11 | g.113399260C>T | CA382644688 | ANKK1 | c.1291C>T (p.Pro431Ser) c.1324C>T (p.Pro442Ser) c.1294C>T (p.Pro432Ser) c.1102C>T (p.Pro368Ser) c.1321C>T (p.Pro441Ser) | dbSNP gnomAD v2 |
| 11 | g.113399261C>A | CA382644690 | ANKK1 | c.1292C>A (p.Pro431Gln) c.1325C>A (p.Pro442Gln) c.1295C>A (p.Pro432Gln) c.1103C>A (p.Pro368Gln) c.1322C>A (p.Pro441Gln) | |
| 11 | g.113399261C>G | CA382644691 | ANKK1 | c.1292C>G (p.Pro431Arg) c.1325C>G (p.Pro442Arg) c.1295C>G (p.Pro432Arg) c.1103C>G (p.Pro368Arg) c.1322C>G (p.Pro441Arg) | |
| 11 | g.113399261C>T | CA382644692 | ANKK1 | c.1292C>T (p.Pro431Leu) c.1325C>T (p.Pro442Leu) c.1295C>T (p.Pro432Leu) c.1103C>T (p.Pro368Leu) c.1322C>T (p.Pro441Leu) | |
| 11 | g.113399262A= | CA2001151967 | ANKK1 | c.1293A= (p.Pro431=) c.1326A= (p.Pro442=) c.1296A= (p.Pro432=) c.1104A= (p.Pro368=) c.1323A= (p.Pro441=) | |
| 11 | g.113399262A>C | CA477042881 | ANKK1 | c.1293A>C (p.Pro431=) c.1326A>C (p.Pro442=) c.1296A>C (p.Pro432=) c.1104A>C (p.Pro368=) c.1323A>C (p.Pro441=) | dbSNP |
| 11 | g.113399262A>G | CA477042879 | ANKK1 | c.1293A>G (p.Pro431=) c.1326A>G (p.Pro442=) c.1296A>G (p.Pro432=) c.1104A>G (p.Pro368=) c.1323A>G (p.Pro441=) | gnomAD v4 |
| 11 | g.113399262A>T | CA477042877 | ANKK1 | c.1293A>T (p.Pro431=) c.1326A>T (p.Pro442=) c.1296A>T (p.Pro432=) c.1104A>T (p.Pro368=) c.1323A>T (p.Pro441=) | |
| 11 | g.113399262_113399263insTCAACCTCCTAGAACAAAGTGAGG | CA2001151968 | ANKK1 | c.1293_1294insTCAACCTCCTAGAACAAAGTGAGG c.1326_1327insTCAACCTCCTAGAACAAAGTGAGG c.1296_1297insTCAACCTCCTAGAACAAAGTGAGG c.1104_1105insTCAACCTCCTAGAACAAAGTGAGG c.1323_1324insTCAACCTCCTAGAACAAAGTGAGG | dbSNP |
| 11 | g.113399263C>A | CA382644693 | ANKK1 | c.1294C>A (p.Leu432Met) c.1327C>A (p.Leu443Met) c.1297C>A (p.Leu433Met) c.1105C>A (p.Leu369Met) c.1324C>A (p.Leu442Met) | dbSNP |
| 11 | g.113399263C= | CA2001151969 | ANKK1 | c.1294C= (p.Leu432=) c.1327C= (p.Leu443=) c.1297C= (p.Leu433=) c.1105C= (p.Leu369=) c.1324C= (p.Leu442=) | |
| 11 | g.113399263C>G | CA382644694 | ANKK1 | c.1294C>G (p.Leu432Val) c.1327C>G (p.Leu443Val) c.1297C>G (p.Leu433Val) c.1105C>G (p.Leu369Val) c.1324C>G (p.Leu442Val) | |
| 11 | g.113399263C>T | CA477042882 | ANKK1 | c.1294C>T (p.Leu432=) c.1327C>T (p.Leu443=) c.1297C>T (p.Leu433=) c.1105C>T (p.Leu369=) c.1324C>T (p.Leu442=) | |
| 11 | g.113399264T>A | CA382644695 | ANKK1 | c.1295T>A (p.Leu432Gln) c.1328T>A (p.Leu443Gln) c.1298T>A (p.Leu433Gln) c.1106T>A (p.Leu369Gln) c.1325T>A (p.Leu442Gln) | |
| 11 | g.113399264T>C | CA382644696 | ANKK1 | c.1295T>C (p.Leu432Pro) c.1328T>C (p.Leu443Pro) c.1298T>C (p.Leu433Pro) c.1106T>C (p.Leu369Pro) c.1325T>C (p.Leu442Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399264T>G | CA382644697 | ANKK1 | c.1295T>G (p.Leu432Arg) c.1328T>G (p.Leu443Arg) c.1298T>G (p.Leu433Arg) c.1106T>G (p.Leu369Arg) c.1325T>G (p.Leu442Arg) | |
| 11 | g.113399264T= | CA2001151970 | ANKK1 | c.1295T= (p.Leu432=) c.1328T= (p.Leu443=) c.1298T= (p.Leu433=) c.1106T= (p.Leu369=) c.1325T= (p.Leu442=) | |
| 11 | g.113399265G>A | CA6280917 | ANKK1 | c.1296G>A (p.Leu432=) c.1329G>A (p.Leu443=) c.1299G>A (p.Leu433=) c.1107G>A (p.Leu369=) c.1326G>A (p.Leu442=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113399265G>C | CA477042885 | ANKK1 | c.1296G>C (p.Leu432=) c.1329G>C (p.Leu443=) c.1299G>C (p.Leu433=) c.1107G>C (p.Leu369=) c.1326G>C (p.Leu442=) | |
| 11 | g.113399265G= | CA2001151971 | ANKK1 | c.1296G= (p.Leu432=) c.1329G= (p.Leu443=) c.1299G= (p.Leu433=) c.1107G= (p.Leu369=) c.1326G= (p.Leu442=) | |
| 11 | g.113399265G>T | CA477042886 | ANKK1 | c.1296G>T (p.Leu432=) c.1329G>T (p.Leu443=) c.1299G>T (p.Leu433=) c.1107G>T (p.Leu369=) c.1326G>T (p.Leu442=) | |
| 11 | g.113399266C>A | CA382644698 | ANKK1 | c.1297C>A (p.His433Asn) c.1330C>A (p.His444Asn) c.1300C>A (p.His434Asn) c.1108C>A (p.His370Asn) c.1327C>A (p.His443Asn) | gnomAD v4 |
| 11 | g.113399266C>G | CA382644699 | ANKK1 | c.1297C>G (p.His433Asp) c.1330C>G (p.His444Asp) c.1300C>G (p.His434Asp) c.1108C>G (p.His370Asp) c.1327C>G (p.His443Asp) | |
| 11 | g.113399266C>T | CA382644700 | ANKK1 | c.1297C>T (p.His433Tyr) c.1330C>T (p.His444Tyr) c.1300C>T (p.His434Tyr) c.1108C>T (p.His370Tyr) c.1327C>T (p.His443Tyr) | |
| 11 | g.113399267A= | CA2001151972 | ANKK1 | c.1298A= (p.His433=) c.1331A= (p.His444=) c.1301A= (p.His434=) c.1109A= (p.His370=) c.1328A= (p.His443=) | |
| 11 | g.113399267A>C | CA382644701 | ANKK1 | c.1298A>C (p.His433Pro) c.1331A>C (p.His444Pro) c.1301A>C (p.His434Pro) c.1109A>C (p.His370Pro) c.1328A>C (p.His443Pro) | |
| 11 | g.113399267A>G | CA382644703 | ANKK1 | c.1298A>G (p.His433Arg) c.1331A>G (p.His444Arg) c.1301A>G (p.His434Arg) c.1109A>G (p.His370Arg) c.1328A>G (p.His443Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399267A>T | CA382644702 | ANKK1 | c.1298A>T (p.His433Leu) c.1331A>T (p.His444Leu) c.1301A>T (p.His434Leu) c.1109A>T (p.His370Leu) c.1328A>T (p.His443Leu) | gnomAD v4 |
| 11 | g.113399268C>A | CA382644704 | ANKK1 | c.1299C>A (p.His433Gln) c.1332C>A (p.His444Gln) c.1302C>A (p.His434Gln) c.1110C>A (p.His370Gln) c.1329C>A (p.His443Gln) | gnomAD v4 |
| 11 | g.113399268C= | CA2001151973 | ANKK1 | c.1299C= (p.His433=) c.1332C= (p.His444=) c.1302C= (p.His434=) c.1110C= (p.His370=) c.1329C= (p.His443=) | |
| 11 | g.113399268C>G | CA382644705 | ANKK1 | c.1299C>G (p.His433Gln) c.1332C>G (p.His444Gln) c.1302C>G (p.His434Gln) c.1110C>G (p.His370Gln) c.1329C>G (p.His443Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399268C>T | CA477042890 | ANKK1 | c.1299C>T (p.His433=) c.1332C>T (p.His444=) c.1302C>T (p.His434=) c.1110C>T (p.His370=) c.1329C>T (p.His443=) | gnomAD v4 |
| 11 | g.113399269T>A | CA382644706 | ANKK1 | c.1300T>A (p.Phe434Ile) c.1333T>A (p.Phe445Ile) c.1303T>A (p.Phe435Ile) c.1111T>A (p.Phe371Ile) c.1330T>A (p.Phe444Ile) | gnomAD v4 |
| 11 | g.113399269T>C | CA382644707 | ANKK1 | c.1300T>C (p.Phe434Leu) c.1333T>C (p.Phe445Leu) c.1303T>C (p.Phe435Leu) c.1111T>C (p.Phe371Leu) c.1330T>C (p.Phe444Leu) | |
| 11 | g.113399269T>G | CA382644708 | ANKK1 | c.1300T>G (p.Phe434Val) c.1333T>G (p.Phe445Val) c.1303T>G (p.Phe435Val) c.1111T>G (p.Phe371Val) c.1330T>G (p.Phe444Val) | gnomAD v4 |
| 11 | g.113399270T>A | CA382644709 | ANKK1 | c.1301T>A (p.Phe434Tyr) c.1334T>A (p.Phe445Tyr) c.1304T>A (p.Phe435Tyr) c.1112T>A (p.Phe371Tyr) c.1331T>A (p.Phe444Tyr) | |
| 11 | g.113399270T>C | CA382644710 | ANKK1 | c.1301T>C (p.Phe434Ser) c.1334T>C (p.Phe445Ser) c.1304T>C (p.Phe435Ser) c.1112T>C (p.Phe371Ser) c.1331T>C (p.Phe444Ser) | |
| 11 | g.113399270T>G | CA382644711 | ANKK1 | c.1301T>G (p.Phe434Cys) c.1334T>G (p.Phe445Cys) c.1304T>G (p.Phe435Cys) c.1112T>G (p.Phe371Cys) c.1331T>G (p.Phe444Cys) | |
| 11 | g.113399271T>A | CA382644712 | ANKK1 | c.1302T>A (p.Phe434Leu) c.1335T>A (p.Phe445Leu) c.1305T>A (p.Phe435Leu) c.1113T>A (p.Phe371Leu) c.1332T>A (p.Phe444Leu) | dbSNP gnomAD v2 |
| 11 | g.113399271T>C | CA477042899 | ANKK1 | c.1302T>C (p.Phe434=) c.1335T>C (p.Phe445=) c.1305T>C (p.Phe435=) c.1113T>C (p.Phe371=) c.1332T>C (p.Phe444=) | gnomAD v4 |
| 11 | g.113399271T>G | CA382644713 | ANKK1 | c.1302T>G (p.Phe434Leu) c.1335T>G (p.Phe445Leu) c.1305T>G (p.Phe435Leu) c.1113T>G (p.Phe371Leu) c.1332T>G (p.Phe444Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113399271T= | CA2001151974 | ANKK1 | c.1302T= (p.Phe434=) c.1335T= (p.Phe445=) c.1305T= (p.Phe435=) c.1113T= (p.Phe371=) c.1332T= (p.Phe444=) | |
| 11 | g.113399272G>A | CA382644715 | ANKK1 | c.1303G>A (p.Ala435Thr) c.1336G>A (p.Ala446Thr) c.1306G>A (p.Ala436Thr) c.1114G>A (p.Ala372Thr) c.1333G>A (p.Ala445Thr) | gnomAD v4 |
| 11 | g.113399272G>C | CA382644716 | ANKK1 | c.1303G>C (p.Ala435Pro) c.1336G>C (p.Ala446Pro) c.1306G>C (p.Ala436Pro) c.1114G>C (p.Ala372Pro) c.1333G>C (p.Ala445Pro) | |
| 11 | g.113399272G>T | CA382644714 | ANKK1 | c.1303G>T (p.Ala435Ser) c.1336G>T (p.Ala446Ser) c.1306G>T (p.Ala436Ser) c.1114G>T (p.Ala372Ser) c.1333G>T (p.Ala445Ser) | gnomAD v4 |
| 11 | g.113399273C>A | CA382644717 | ANKK1 | c.1304C>A (p.Ala435Glu) c.1337C>A (p.Ala446Glu) c.1307C>A (p.Ala436Glu) c.1115C>A (p.Ala372Glu) c.1334C>A (p.Ala445Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399273C= | CA2001151976 | ANKK1 | c.1304C= (p.Ala435=) c.1337C= (p.Ala446=) c.1307C= (p.Ala436=) c.1115C= (p.Ala372=) c.1334C= (p.Ala445=) | |
| 11 | g.113399273C>G | CA382644718 | ANKK1 | c.1304C>G (p.Ala435Gly) c.1337C>G (p.Ala446Gly) c.1307C>G (p.Ala436Gly) c.1115C>G (p.Ala372Gly) c.1334C>G (p.Ala445Gly) | |
| 11 | g.113399273C>T | CA6280918 | ANKK1 | c.1304C>T (p.Ala435Val) c.1337C>T (p.Ala446Val) c.1307C>T (p.Ala436Val) c.1115C>T (p.Ala372Val) c.1334C>T (p.Ala445Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113399274A>C | CA477042411 | ANKK1 | c.1305A>C (p.Ala435=) c.1338A>C (p.Ala446=) c.1308A>C (p.Ala436=) c.1116A>C (p.Ala372=) c.1335A>C (p.Ala445=) | gnomAD v4 |
| 11 | g.113399274A>G | CA477042416 | ANKK1 | c.1305A>G (p.Ala435=) c.1338A>G (p.Ala446=) c.1308A>G (p.Ala436=) c.1116A>G (p.Ala372=) c.1335A>G (p.Ala445=) | |
| 11 | g.113399274A>T | CA477042419 | ANKK1 | c.1305A>T (p.Ala435=) c.1338A>T (p.Ala446=) c.1308A>T (p.Ala436=) c.1116A>T (p.Ala372=) c.1335A>T (p.Ala445=) | |
| 11 | g.113399275G>A | CA382644719 | ANKK1 | c.1306G>A (p.Ala436Thr) c.1339G>A (p.Ala447Thr) c.1309G>A (p.Ala437Thr) c.1117G>A (p.Ala373Thr) c.1336G>A (p.Ala446Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399275G>C | CA382644720 | ANKK1 | c.1306G>C (p.Ala436Pro) c.1339G>C (p.Ala447Pro) c.1309G>C (p.Ala437Pro) c.1117G>C (p.Ala373Pro) c.1336G>C (p.Ala446Pro) | |
| 11 | g.113399275G= | CA2001151980 | ANKK1 | c.1306G= (p.Ala436=) c.1339G= (p.Ala447=) c.1309G= (p.Ala437=) c.1117G= (p.Ala373=) c.1336G= (p.Ala446=) | |
| 11 | g.113399275G>T | CA382644721 | ANKK1 | c.1306G>T (p.Ala436Ser) c.1339G>T (p.Ala447Ser) c.1309G>T (p.Ala437Ser) c.1117G>T (p.Ala373Ser) c.1336G>T (p.Ala446Ser) | gnomAD v4 |
| 11 | g.113399276C>A | CA382644722 | ANKK1 | c.1307C>A (p.Ala436Asp) c.1340C>A (p.Ala447Asp) c.1310C>A (p.Ala437Asp) c.1118C>A (p.Ala373Asp) c.1337C>A (p.Ala446Asp) | gnomAD v4 |
| 11 | g.113399276C>G | CA382644723 | ANKK1 | c.1307C>G (p.Ala436Gly) c.1340C>G (p.Ala447Gly) c.1310C>G (p.Ala437Gly) c.1118C>G (p.Ala373Gly) c.1337C>G (p.Ala446Gly) | |
| 11 | g.113399276C>T | CA382644724 | ANKK1 | c.1307C>T (p.Ala436Val) c.1340C>T (p.Ala447Val) c.1310C>T (p.Ala437Val) c.1118C>T (p.Ala373Val) c.1337C>T (p.Ala446Val) | |
| 11 | g.113399277C>A | CA477042426 | ANKK1 | c.1308C>A (p.Ala436=) c.1341C>A (p.Ala447=) c.1311C>A (p.Ala437=) c.1119C>A (p.Ala373=) c.1338C>A (p.Ala446=) | gnomAD v4 |
| 11 | g.113399277C= | CA2001151982 | ANKK1 | c.1308C= (p.Ala436=) c.1341C= (p.Ala447=) c.1311C= (p.Ala437=) c.1119C= (p.Ala373=) c.1338C= (p.Ala446=) | |
| 11 | g.113399277C>G | CA228615168 | ANKK1 | c.1308C>G (p.Ala436=) c.1341C>G (p.Ala447=) c.1311C>G (p.Ala437=) c.1119C>G (p.Ala373=) c.1338C>G (p.Ala446=) | dbSNP |
| 11 | g.113399277C>T | CA477042428 | ANKK1 | c.1308C>T (p.Ala436=) c.1341C>T (p.Ala447=) c.1311C>T (p.Ala437=) c.1119C>T (p.Ala373=) c.1338C>T (p.Ala446=) | |
| 11 | g.113399278C>A | CA382644725 | ANKK1 | c.1309C>A (p.Gln437Lys) c.1342C>A (p.Gln448Lys) c.1312C>A (p.Gln438Lys) c.1120C>A (p.Gln374Lys) c.1339C>A (p.Gln447Lys) | gnomAD v4 |
| 11 | g.113399278C>G | CA382644726 | ANKK1 | c.1309C>G (p.Gln437Glu) c.1342C>G (p.Gln448Glu) c.1312C>G (p.Gln438Glu) c.1120C>G (p.Gln374Glu) c.1339C>G (p.Gln447Glu) | |
| 11 | g.113399278C>T | CA382644727 | ANKK1 | c.1309C>T (p.Gln437Ter) c.1342C>T (p.Gln448Ter) c.1312C>T (p.Gln438Ter) c.1120C>T (p.Gln374Ter) c.1339C>T (p.Gln447Ter) | |
| 11 | g.113399279A>C | CA382644730 | ANKK1 | c.1310A>C (p.Gln437Pro) c.1343A>C (p.Gln448Pro) c.1313A>C (p.Gln438Pro) c.1121A>C (p.Gln374Pro) c.1340A>C (p.Gln447Pro) | |
| 11 | g.113399279A>G | CA382644729 | ANKK1 | c.1310A>G (p.Gln437Arg) c.1343A>G (p.Gln448Arg) c.1313A>G (p.Gln438Arg) c.1121A>G (p.Gln374Arg) c.1340A>G (p.Gln447Arg) | gnomAD v4 |
| 11 | g.113399279A>T | CA382644728 | ANKK1 | c.1310A>T (p.Gln437Leu) c.1343A>T (p.Gln448Leu) c.1313A>T (p.Gln438Leu) c.1121A>T (p.Gln374Leu) c.1340A>T (p.Gln447Leu) | gnomAD v4 |
| 11 | g.113399280G>A | CA477042440 | ANKK1 | c.1311G>A (p.Gln437=) c.1344G>A (p.Gln448=) c.1314G>A (p.Gln438=) c.1122G>A (p.Gln374=) c.1341G>A (p.Gln447=) | |
| 11 | g.113399280G>C | CA382644731 | ANKK1 | c.1311G>C (p.Gln437His) c.1344G>C (p.Gln448His) c.1314G>C (p.Gln438His) c.1122G>C (p.Gln374His) c.1341G>C (p.Gln447His) | |
| 11 | g.113399280G= | CA2001151987 | ANKK1 | c.1311G= (p.Gln437=) c.1344G= (p.Gln448=) c.1314G= (p.Gln438=) c.1122G= (p.Gln374=) c.1341G= (p.Gln447=) | |
| 11 | g.113399280G>T | CA6280919 | ANKK1 | c.1311G>T (p.Gln437His) c.1344G>T (p.Gln448His) c.1314G>T (p.Gln438His) c.1122G>T (p.Gln374His) c.1341G>T (p.Gln447His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113399281A>C | CA382644732 | ANKK1 | c.1312A>C (p.Asn438His) c.1345A>C (p.Asn449His) c.1315A>C (p.Asn439His) c.1123A>C (p.Asn375His) c.1342A>C (p.Asn448His) | |
| 11 | g.113399281A>G | CA382644733 | ANKK1 | c.1312A>G (p.Asn438Asp) c.1345A>G (p.Asn449Asp) c.1315A>G (p.Asn439Asp) c.1123A>G (p.Asn375Asp) c.1342A>G (p.Asn448Asp) | |
| 11 | g.113399281A>T | CA382644734 | ANKK1 | c.1312A>T (p.Asn438Tyr) c.1345A>T (p.Asn449Tyr) c.1315A>T (p.Asn439Tyr) c.1123A>T (p.Asn375Tyr) c.1342A>T (p.Asn448Tyr) | dbSNP |
| 11 | g.113399282A>C | CA382644735 | ANKK1 | c.1313A>C (p.Asn438Thr) c.1346A>C (p.Asn449Thr) c.1316A>C (p.Asn439Thr) c.1124A>C (p.Asn375Thr) c.1343A>C (p.Asn448Thr) | |
| 11 | g.113399282A>G | CA382644737 | ANKK1 | c.1313A>G (p.Asn438Ser) c.1346A>G (p.Asn449Ser) c.1316A>G (p.Asn439Ser) c.1124A>G (p.Asn375Ser) c.1343A>G (p.Asn448Ser) | |
| 11 | g.113399282A>T | CA382644739 | ANKK1 | c.1313A>T (p.Asn438Ile) c.1346A>T (p.Asn449Ile) c.1316A>T (p.Asn439Ile) c.1124A>T (p.Asn375Ile) c.1343A>T (p.Asn448Ile) | |
| 11 | g.113399283T>A | CA382644741 | ANKK1 | c.1314T>A (p.Asn438Lys) c.1347T>A (p.Asn449Lys) c.1317T>A (p.Asn439Lys) c.1125T>A (p.Asn375Lys) c.1344T>A (p.Asn448Lys) | |
| 11 | g.113399283T>C | CA477042451 | ANKK1 | c.1314T>C (p.Asn438=) c.1347T>C (p.Asn449=) c.1317T>C (p.Asn439=) c.1125T>C (p.Asn375=) c.1344T>C (p.Asn448=) | |
| 11 | g.113399283T>G | CA382644743 | ANKK1 | c.1314T>G (p.Asn438Lys) c.1347T>G (p.Asn449Lys) c.1317T>G (p.Asn439Lys) c.1125T>G (p.Asn375Lys) c.1344T>G (p.Asn448Lys) | |
| 11 | g.113399284G>A | CA382644745 | ANKK1 | c.1315G>A (p.Gly439Arg) c.1348G>A (p.Gly450Arg) c.1318G>A (p.Gly440Arg) c.1126G>A (p.Gly376Arg) c.1345G>A (p.Gly449Arg) | |
| 11 | g.113399284G>C | CA382644747 | ANKK1 | c.1315G>C (p.Gly439Arg) c.1348G>C (p.Gly450Arg) c.1318G>C (p.Gly440Arg) c.1126G>C (p.Gly376Arg) c.1345G>C (p.Gly449Arg) | |
| 11 | g.113399284G>T | CA382644749 | ANKK1 | c.1315G>T (p.Gly439Trp) c.1348G>T (p.Gly450Trp) c.1318G>T (p.Gly440Trp) c.1126G>T (p.Gly376Trp) c.1345G>T (p.Gly449Trp) | COSMIC |
| 11 | g.113399285G>A | CA382644754 | ANKK1 | c.1316G>A (p.Gly439Glu) c.1349G>A (p.Gly450Glu) c.1319G>A (p.Gly440Glu) c.1127G>A (p.Gly376Glu) c.1346G>A (p.Gly449Glu) | gnomAD v4 |
| 11 | g.113399285G>C | CA382644756 | ANKK1 | c.1316G>C (p.Gly439Ala) c.1349G>C (p.Gly450Ala) c.1319G>C (p.Gly440Ala) c.1127G>C (p.Gly376Ala) c.1346G>C (p.Gly449Ala) | |
| 11 | g.113399285G>T | CA382644752 | ANKK1 | c.1316G>T (p.Gly439Val) c.1349G>T (p.Gly450Val) c.1319G>T (p.Gly440Val) c.1127G>T (p.Gly376Val) c.1346G>T (p.Gly449Val) | gnomAD v4 |
| 11 | g.113399286G>A | CA477042455 | ANKK1 | c.1317G>A (p.Gly439=) c.1350G>A (p.Gly450=) c.1320G>A (p.Gly440=) c.1128G>A (p.Gly376=) c.1347G>A (p.Gly449=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399286G>C | CA477042456 | ANKK1 | c.1317G>C (p.Gly439=) c.1350G>C (p.Gly450=) c.1320G>C (p.Gly440=) c.1128G>C (p.Gly376=) c.1347G>C (p.Gly449=) | gnomAD v4 |
| 11 | g.113399286G= | CA2001151989 | ANKK1 | c.1317G= (p.Gly439=) c.1350G= (p.Gly450=) c.1320G= (p.Gly440=) c.1128G= (p.Gly376=) c.1347G= (p.Gly449=) | |
| 11 | g.113399286G>T | CA477042457 | ANKK1 | c.1317G>T (p.Gly439=) c.1350G>T (p.Gly450=) c.1320G>T (p.Gly440=) c.1128G>T (p.Gly376=) c.1347G>T (p.Gly449=) | gnomAD v4 |
| 11 | g.113399287G>A | CA382644758 | ANKK1 | c.1318G>A (p.Asp440Asn) c.1351G>A (p.Asp451Asn) c.1321G>A (p.Asp441Asn) c.1129G>A (p.Asp377Asn) c.1348G>A (p.Asp450Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399287G>C | CA382644762 | ANKK1 | c.1318G>C (p.Asp440His) c.1351G>C (p.Asp451His) c.1321G>C (p.Asp441His) c.1129G>C (p.Asp377His) c.1348G>C (p.Asp450His) | |
| 11 | g.113399287G= | CA2001151991 | ANKK1 | c.1318G= (p.Asp440=) c.1351G= (p.Asp451=) c.1321G= (p.Asp441=) c.1129G= (p.Asp377=) c.1348G= (p.Asp450=) | |
| 11 | g.113399287G>T | CA382644760 | ANKK1 | c.1318G>T (p.Asp440Tyr) c.1351G>T (p.Asp451Tyr) c.1321G>T (p.Asp441Tyr) c.1129G>T (p.Asp377Tyr) c.1348G>T (p.Asp450Tyr) | gnomAD v4 |
| 11 | g.113399288A= | CA2001151995 | ANKK1 | c.1319A= (p.Asp440=) c.1352A= (p.Asp451=) c.1322A= (p.Asp441=) c.1130A= (p.Asp377=) c.1349A= (p.Asp450=) | |
| 11 | g.113399288A>C | CA382644764 | ANKK1 | c.1319A>C (p.Asp440Ala) c.1352A>C (p.Asp451Ala) c.1322A>C (p.Asp441Ala) c.1130A>C (p.Asp377Ala) c.1349A>C (p.Asp450Ala) | |
| 11 | g.113399288A>G | CA382644769 | ANKK1 | c.1319A>G (p.Asp440Gly) c.1352A>G (p.Asp451Gly) c.1322A>G (p.Asp441Gly) c.1130A>G (p.Asp377Gly) c.1349A>G (p.Asp450Gly) | |
| 11 | g.113399288A>T | CA382644767 | ANKK1 | c.1319A>T (p.Asp440Val) c.1352A>T (p.Asp451Val) c.1322A>T (p.Asp441Val) c.1130A>T (p.Asp377Val) c.1349A>T (p.Asp450Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399289T>A | CA382644772 | ANKK1 | c.1320T>A (p.Asp440Glu) c.1353T>A (p.Asp451Glu) c.1323T>A (p.Asp441Glu) c.1131T>A (p.Asp377Glu) c.1350T>A (p.Asp450Glu) | ClinVar gnomAD v4 |
| 11 | g.113399289T>C | CA477042462 | ANKK1 | c.1320T>C (p.Asp440=) c.1353T>C (p.Asp451=) c.1323T>C (p.Asp441=) c.1131T>C (p.Asp377=) c.1350T>C (p.Asp450=) | |
| 11 | g.113399289T>G | CA382644774 | ANKK1 | c.1320T>G (p.Asp440Glu) c.1353T>G (p.Asp451Glu) c.1323T>G (p.Asp441Glu) c.1131T>G (p.Asp377Glu) c.1350T>G (p.Asp450Glu) | |
| 11 | g.113399290G>A | CA382644776 | ANKK1 | c.1321G>A (p.Asp441Asn) c.1354G>A (p.Asp452Asn) c.1324G>A (p.Asp442Asn) c.1132G>A (p.Asp378Asn) c.1351G>A (p.Asp451Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399290G>C | CA382644780 | ANKK1 | c.1321G>C (p.Asp441His) c.1354G>C (p.Asp452His) c.1324G>C (p.Asp442His) c.1132G>C (p.Asp378His) c.1351G>C (p.Asp451His) | |
| 11 | g.113399290G= | CA2001151998 | ANKK1 | c.1321G= (p.Asp441=) c.1354G= (p.Asp452=) c.1324G= (p.Asp442=) c.1132G= (p.Asp378=) c.1351G= (p.Asp451=) | |
| 11 | g.113399290G>T | CA382644778 | ANKK1 | c.1321G>T (p.Asp441Tyr) c.1354G>T (p.Asp452Tyr) c.1324G>T (p.Asp442Tyr) c.1132G>T (p.Asp378Tyr) c.1351G>T (p.Asp451Tyr) | |
| 11 | g.113399291A= | CA2001152002 | ANKK1 | c.1322A= (p.Asp441=) c.1355A= (p.Asp452=) c.1325A= (p.Asp442=) c.1133A= (p.Asp378=) c.1352A= (p.Asp451=) | |
| 11 | g.113399291A>C | CA382644783 | ANKK1 | c.1322A>C (p.Asp441Ala) c.1355A>C (p.Asp452Ala) c.1325A>C (p.Asp442Ala) c.1133A>C (p.Asp378Ala) c.1352A>C (p.Asp451Ala) | |
| 11 | g.113399291A>G | CA382644786 | ANKK1 | c.1322A>G (p.Asp441Gly) c.1355A>G (p.Asp452Gly) c.1325A>G (p.Asp442Gly) c.1133A>G (p.Asp378Gly) c.1352A>G (p.Asp451Gly) | dbSNP gnomAD v4 |
| 11 | g.113399291A>T | CA382644785 | ANKK1 | c.1322A>T (p.Asp441Val) c.1355A>T (p.Asp452Val) c.1325A>T (p.Asp442Val) c.1133A>T (p.Asp378Val) c.1352A>T (p.Asp451Val) | |
| 11 | g.113399292C>A | CA382644790 | ANKK1 | c.1323C>A (p.Asp441Glu) c.1356C>A (p.Asp452Glu) c.1326C>A (p.Asp442Glu) c.1134C>A (p.Asp378Glu) c.1353C>A (p.Asp451Glu) | |
| 11 | g.113399292C= | CA2001152005 | ANKK1 | c.1323C= (p.Asp441=) c.1356C= (p.Asp452=) c.1326C= (p.Asp442=) c.1134C= (p.Asp378=) c.1353C= (p.Asp451=) | |
| 11 | g.113399292C>G | CA382644793 | ANKK1 | c.1323C>G (p.Asp441Glu) c.1356C>G (p.Asp452Glu) c.1326C>G (p.Asp442Glu) c.1134C>G (p.Asp378Glu) c.1353C>G (p.Asp451Glu) | gnomAD v4 |
| 11 | g.113399292C>T | CA6280920 | ANKK1 | c.1323C>T (p.Asp441=) c.1356C>T (p.Asp452=) c.1326C>T (p.Asp442=) c.1134C>T (p.Asp378=) c.1353C>T (p.Asp451=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399293G>A | CA6280923 | ANKK1 | c.1324G>A (p.Gly442Ser) c.1357G>A (p.Gly453Ser) c.1327G>A (p.Gly443Ser) c.1135G>A (p.Gly379Ser) c.1354G>A (p.Gly452Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399293G>C | CA6280921 | ANKK1 | c.1324G>C (p.Gly442Arg) c.1357G>C (p.Gly453Arg) c.1327G>C (p.Gly443Arg) c.1135G>C (p.Gly379Arg) c.1354G>C (p.Gly452Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399293G= | CA2001152011 | ANKK1 | c.1324G= (p.Gly442=) c.1357G= (p.Gly453=) c.1327G= (p.Gly443=) c.1135G= (p.Gly379=) c.1354G= (p.Gly452=) | |
| 11 | g.113399293G>T | CA6280922 | ANKK1 | c.1324G>T (p.Gly442Cys) c.1357G>T (p.Gly453Cys) c.1327G>T (p.Gly443Cys) c.1135G>T (p.Gly379Cys) c.1354G>T (p.Gly452Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399294del | CA2616032798 | ANKK1 | c.1325del (p.Gly442AlafsTer?) c.1358del (p.Gly453AlafsTer?) c.1328del (p.Gly443AlafsTer?) c.1136del (p.Gly379AlafsTer?) c.1355del (p.Gly452AlafsTer?) | gnomAD v4 |
| 11 | g.113399294G>A | CA6280924 | ANKK1 | c.1325G>A (p.Gly442Asp) c.1358G>A (p.Gly453Asp) c.1328G>A (p.Gly443Asp) c.1136G>A (p.Gly379Asp) c.1355G>A (p.Gly452Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399294G>C | CA382644800 | ANKK1 | c.1325G>C (p.Gly442Ala) c.1358G>C (p.Gly453Ala) c.1328G>C (p.Gly443Ala) c.1136G>C (p.Gly379Ala) c.1355G>C (p.Gly452Ala) | |
| 11 | g.113399294G= | CA2001152016 | ANKK1 | c.1325G= (p.Gly442=) c.1358G= (p.Gly453=) c.1328G= (p.Gly443=) c.1136G= (p.Gly379=) c.1355G= (p.Gly452=) | |
| 11 | g.113399294G>T | CA382644802 | ANKK1 | c.1325G>T (p.Gly442Val) c.1358G>T (p.Gly453Val) c.1328G>T (p.Gly443Val) c.1136G>T (p.Gly379Val) c.1355G>T (p.Gly452Val) | gnomAD v4 |
| 11 | g.113399295C>A | CA477042473 | ANKK1 | c.1326C>A (p.Gly442=) c.1359C>A (p.Gly453=) c.1329C>A (p.Gly443=) c.1137C>A (p.Gly379=) c.1356C>A (p.Gly452=) | |
| 11 | g.113399295C= | CA2001152019 | ANKK1 | c.1326C= (p.Gly442=) c.1359C= (p.Gly453=) c.1329C= (p.Gly443=) c.1137C= (p.Gly379=) c.1356C= (p.Gly452=) | |
| 11 | g.113399295C>G | CA477042475 | ANKK1 | c.1326C>G (p.Gly442=) c.1359C>G (p.Gly453=) c.1329C>G (p.Gly443=) c.1137C>G (p.Gly379=) c.1356C>G (p.Gly452=) | |
| 11 | g.113399295C>T | CA477042474 | ANKK1 | c.1326C>T (p.Gly442=) c.1359C>T (p.Gly453=) c.1329C>T (p.Gly443=) c.1137C>T (p.Gly379=) c.1356C>T (p.Gly452=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399296A>C | CA382644804 | ANKK1 | c.1327A>C (p.Thr443Pro) c.1360A>C (p.Thr454Pro) c.1330A>C (p.Thr444Pro) c.1138A>C (p.Thr380Pro) c.1357A>C (p.Thr453Pro) | |
| 11 | g.113399296A>G | CA382644806 | ANKK1 | c.1327A>G (p.Thr443Ala) c.1360A>G (p.Thr454Ala) c.1330A>G (p.Thr444Ala) c.1138A>G (p.Thr380Ala) c.1357A>G (p.Thr453Ala) | gnomAD v4 |
| 11 | g.113399296A>T | CA382644807 | ANKK1 | c.1327A>T (p.Thr443Ser) c.1360A>T (p.Thr454Ser) c.1330A>T (p.Thr444Ser) c.1138A>T (p.Thr380Ser) c.1357A>T (p.Thr453Ser) | |
| 11 | g.113399297C>A | CA382644809 | ANKK1 | c.1328C>A (p.Thr443Asn) c.1361C>A (p.Thr454Asn) c.1331C>A (p.Thr444Asn) c.1139C>A (p.Thr380Asn) c.1358C>A (p.Thr453Asn) | |
| 11 | g.113399297C= | CA2001152021 | ANKK1 | c.1328C= (p.Thr443=) c.1361C= (p.Thr454=) c.1331C= (p.Thr444=) c.1139C= (p.Thr380=) c.1358C= (p.Thr453=) | |
| 11 | g.113399297C>G | CA382644811 | ANKK1 | c.1328C>G (p.Thr443Ser) c.1361C>G (p.Thr454Ser) c.1331C>G (p.Thr444Ser) c.1139C>G (p.Thr380Ser) c.1358C>G (p.Thr453Ser) | |
| 11 | g.113399297C>T | CA382644812 | ANKK1 | c.1328C>T (p.Thr443Ile) c.1361C>T (p.Thr454Ile) c.1331C>T (p.Thr444Ile) c.1139C>T (p.Thr380Ile) c.1358C>T (p.Thr453Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399298T>A | CA477042479 | ANKK1 | c.1329T>A (p.Thr443=) c.1362T>A (p.Thr454=) c.1332T>A (p.Thr444=) c.1140T>A (p.Thr380=) c.1359T>A (p.Thr453=) | |
| 11 | g.113399298T>C | CA477042480 | ANKK1 | c.1329T>C (p.Thr443=) c.1362T>C (p.Thr454=) c.1332T>C (p.Thr444=) c.1140T>C (p.Thr380=) c.1359T>C (p.Thr453=) | |
| 11 | g.113399298T>G | CA477042482 | ANKK1 | c.1329T>G (p.Thr443=) c.1362T>G (p.Thr454=) c.1332T>G (p.Thr444=) c.1140T>G (p.Thr380=) c.1359T>G (p.Thr453=) |