Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.113399193C>A | CA477042745 | ANKK1 | c.1224C>A (p.Pro408=) c.1257C>A (p.Pro419=) c.1227C>A (p.Pro409=) c.1035C>A (p.Pro345=) c.1254C>A (p.Pro418=) | gnomAD v4 |
11 | g.113399193C= | CA2001151808 | ANKK1 | c.1224C= (p.Pro408=) c.1257C= (p.Pro419=) c.1227C= (p.Pro409=) c.1035C= (p.Pro345=) c.1254C= (p.Pro418=) | |
11 | g.113399193C>G | CA228615026 | ANKK1 | c.1224C>G (p.Pro408=) c.1257C>G (p.Pro419=) c.1227C>G (p.Pro409=) c.1035C>G (p.Pro345=) c.1254C>G (p.Pro418=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.113399193C>T | CA6280901 | ANKK1 | c.1224C>T (p.Pro408=) c.1257C>T (p.Pro419=) c.1227C>T (p.Pro409=) c.1035C>T (p.Pro345=) c.1254C>T (p.Pro418=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.113399194G>A | CA6280902 | ANKK1 | c.1225G>A (p.Asp409Asn) c.1258G>A (p.Asp420Asn) c.1228G>A (p.Asp410Asn) c.1036G>A (p.Asp346Asn) c.1255G>A (p.Asp419Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.113399194G>C | CA382644542 | ANKK1 | c.1225G>C (p.Asp409His) c.1258G>C (p.Asp420His) c.1228G>C (p.Asp410His) c.1036G>C (p.Asp346His) c.1255G>C (p.Asp419His) | gnomAD v4 |
11 | g.113399194G= | CA2001151811 | ANKK1 | c.1225G= (p.Asp409=) c.1258G= (p.Asp420=) c.1228G= (p.Asp410=) c.1036G= (p.Asp346=) c.1255G= (p.Asp419=) | |
11 | g.113399194G>T | CA382644543 | ANKK1 | c.1225G>T (p.Asp409Tyr) c.1258G>T (p.Asp420Tyr) c.1228G>T (p.Asp410Tyr) c.1036G>T (p.Asp346Tyr) c.1255G>T (p.Asp419Tyr) | |
11 | g.113399195A= | CA2001151813 | ANKK1 | c.1226A= (p.Asp409=) c.1259A= (p.Asp420=) c.1229A= (p.Asp410=) c.1037A= (p.Asp346=) c.1256A= (p.Asp419=) | |
11 | g.113399195A>C | CA382644544 | ANKK1 | c.1226A>C (p.Asp409Ala) c.1259A>C (p.Asp420Ala) c.1229A>C (p.Asp410Ala) c.1037A>C (p.Asp346Ala) c.1256A>C (p.Asp419Ala) | gnomAD v4 |
11 | g.113399195A>G | CA382644545 | ANKK1 | c.1226A>G (p.Asp409Gly) c.1259A>G (p.Asp420Gly) c.1229A>G (p.Asp410Gly) c.1037A>G (p.Asp346Gly) c.1256A>G (p.Asp419Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.113399195A>T | CA382644546 | ANKK1 | c.1226A>T (p.Asp409Val) c.1259A>T (p.Asp420Val) c.1229A>T (p.Asp410Val) c.1037A>T (p.Asp346Val) c.1256A>T (p.Asp419Val) | |
11 | g.113399196C>A | CA382644547 | ANKK1 | c.1227C>A (p.Asp409Glu) c.1260C>A (p.Asp420Glu) c.1230C>A (p.Asp410Glu) c.1038C>A (p.Asp346Glu) c.1257C>A (p.Asp419Glu) | gnomAD v4 |
11 | g.113399196C>G | CA382644548 | ANKK1 | c.1227C>G (p.Asp409Glu) c.1260C>G (p.Asp420Glu) c.1230C>G (p.Asp410Glu) c.1038C>G (p.Asp346Glu) c.1257C>G (p.Asp419Glu) | |
11 | g.113399196C>T | CA477042754 | ANKK1 | c.1227C>T (p.Asp409=) c.1260C>T (p.Asp420=) c.1230C>T (p.Asp410=) c.1038C>T (p.Asp346=) c.1257C>T (p.Asp419=) | |
11 | g.113399197C>A | CA382644550 | ANKK1 | c.1228C>A (p.Leu410Ile) c.1261C>A (p.Leu421Ile) c.1231C>A (p.Leu411Ile) c.1039C>A (p.Leu347Ile) c.1258C>A (p.Leu420Ile) | gnomAD v4 |
11 | g.113399197C= | CA2001151821 | ANKK1 | c.1228C= (p.Leu410=) c.1261C= (p.Leu421=) c.1231C= (p.Leu411=) c.1039C= (p.Leu347=) c.1258C= (p.Leu420=) | |
11 | g.113399197C>G | CA382644551 | ANKK1 | c.1228C>G (p.Leu410Val) c.1261C>G (p.Leu421Val) c.1231C>G (p.Leu411Val) c.1039C>G (p.Leu347Val) c.1258C>G (p.Leu420Val) | |
11 | g.113399197C>T | CA6280903 | ANKK1 | c.1228C>T (p.Leu410Phe) c.1261C>T (p.Leu421Phe) c.1231C>T (p.Leu411Phe) c.1039C>T (p.Leu347Phe) c.1258C>T (p.Leu420Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
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) |