Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.58273510T>A | CA400369995 | MPO | n.858A>T c.650A>T (n.650A>T) n.565A>T c.1525A>T (p.Met509Leu) c.1711A>T (p.Met571Leu) c.1240A>T (p.Met414Leu) c.*74A>T (n.*74A>T) | dbSNP gnomAD v4 |
17 | g.58273510T>C | CA400369996 | MPO | n.858A>G c.650A>G (n.650A>G) n.565A>G c.1525A>G (p.Met509Val) c.1711A>G (p.Met571Val) c.1240A>G (p.Met414Val) c.*74A>G (n.*74A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273510T>G | CA400369997 | MPO | n.858A>C c.650A>C (n.650A>C) n.565A>C c.1525A>C (p.Met509Leu) c.1711A>C (p.Met571Leu) c.1240A>C (p.Met414Leu) c.*74A>C (n.*74A>C) | dbSNP |
17 | g.58273510T= | CA2267631289 | MPO | n.858A= c.650A= (n.650A=) n.565A= c.1525A= (p.Met509=) c.1711A= (p.Met571=) c.1240A= (p.Met414=) c.*74A= (n.*74A=) | |
17 | g.58273511G>A | CA501022586 | MPO | n.857C>T c.649C>T (n.649C>T) n.564C>T c.1524C>T (p.Phe508=) c.1710C>T (p.Phe570=) c.1239C>T (p.Phe413=) c.*73C>T (n.*73C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.58273511G>C | CA400369998 | MPO | n.857C>G c.649C>G (n.649C>G) n.564C>G c.1524C>G (p.Phe508Leu) c.1710C>G (p.Phe570Leu) c.1239C>G (p.Phe413Leu) c.*73C>G (n.*73C>G) | |
17 | g.58273511G= | CA2267631290 | MPO | n.857C= c.649C= (n.649C=) n.564C= c.1524C= (p.Phe508=) c.1710C= (p.Phe570=) c.1239C= (p.Phe413=) c.*73C= (n.*73C=) | |
17 | g.58273511G>T | CA400369999 | MPO | n.857C>A c.649C>A (n.649C>A) n.564C>A c.1524C>A (p.Phe508Leu) c.1710C>A (p.Phe570Leu) c.1239C>A (p.Phe413Leu) c.*73C>A (n.*73C>A) | |
17 | g.58273512A>C | CA400370004 | MPO | n.856T>G c.648T>G (n.648T>G) n.563T>G c.1523T>G (p.Phe508Cys) c.1709T>G (p.Phe570Cys) c.1238T>G (p.Phe413Cys) c.*72T>G (n.*72T>G) | |
17 | g.58273512A>G | CA400370005 | MPO | n.856T>C c.648T>C (n.648T>C) n.563T>C c.1523T>C (p.Phe508Ser) c.1709T>C (p.Phe570Ser) c.1238T>C (p.Phe413Ser) c.*72T>C (n.*72T>C) | |
17 | g.58273512A>T | CA400370002 | MPO | n.856T>A c.648T>A (n.648T>A) n.563T>A c.1523T>A (p.Phe508Tyr) c.1709T>A (p.Phe570Tyr) c.1238T>A (p.Phe413Tyr) c.*72T>A (n.*72T>A) | |
17 | g.58273513A>C | CA400370006 | MPO | n.855T>G c.647T>G (n.647T>G) n.562T>G c.1522T>G (p.Phe508Val) c.1708T>G (p.Phe570Val) c.1237T>G (p.Phe413Val) c.*71T>G (n.*71T>G) | |
17 | g.58273513A>G | CA400370007 | MPO | n.855T>C c.647T>C (n.647T>C) n.562T>C c.1522T>C (p.Phe508Leu) c.1708T>C (p.Phe570Leu) c.1237T>C (p.Phe413Leu) c.*71T>C (n.*71T>C) | |
17 | g.58273513A>T | CA400370008 | MPO | n.855T>A c.647T>A (n.647T>A) n.562T>A c.1522T>A (p.Phe508Ile) c.1708T>A (p.Phe570Ile) c.1237T>A (p.Phe413Ile) c.*71T>A (n.*71T>A) | |
17 | g.58273514G>A | CA501022605 | MPO | n.854C>T c.646C>T (n.646C>T) n.561C>T c.1521C>T (p.Pro507=) c.1707C>T (p.Pro569=) c.1236C>T (p.Pro412=) c.*70C>T (n.*70C>T) | |
17 | g.58273514G>C | CA501022606 | MPO | n.854C>G c.646C>G (n.646C>G) n.561C>G c.1521C>G (p.Pro507=) c.1707C>G (p.Pro569=) c.1236C>G (p.Pro412=) c.*70C>G (n.*70C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273514G= | CA2267631291 | MPO | n.854C= c.646C= (n.646C=) n.561C= c.1521C= (p.Pro507=) c.1707C= (p.Pro569=) c.1236C= (p.Pro412=) c.*70C= (n.*70C=) | |
17 | g.58273514G>T | CA501022608 | MPO | n.854C>A c.646C>A (n.646C>A) n.561C>A c.1521C>A (p.Pro507=) c.1707C>A (p.Pro569=) c.1236C>A (p.Pro412=) c.*70C>A (n.*70C>A) | |
17 | g.58273516del | CA2638968634 | MPO | n.854del c.646del (n.646del) n.561del c.1521del (p.Phe508SerfsTer?) c.1707del (p.Phe570SerfsTer?) c.1236del (p.Phe413SerfsTer?) c.*70del (n.*70del) | gnomAD v4 |
17 | g.58273515G>A | CA400370009 | MPO | n.853C>T c.645C>T (n.645C>T) n.560C>T c.1520C>T (p.Pro507Leu) c.1706C>T (p.Pro569Leu) c.1235C>T (p.Pro412Leu) c.*69C>T (n.*69C>T) | COSMIC COSMIC |
17 | g.58273515G>C | CA400370010 | MPO | n.853C>G c.645C>G (n.645C>G) n.560C>G c.1520C>G (p.Pro507Arg) c.1706C>G (p.Pro569Arg) c.1235C>G (p.Pro412Arg) c.*69C>G (n.*69C>G) | |
17 | g.58273515G>T | CA400370011 | MPO | n.853C>A c.645C>A (n.645C>A) n.560C>A c.1520C>A (p.Pro507His) c.1706C>A (p.Pro569His) c.1235C>A (p.Pro412His) c.*69C>A (n.*69C>A) | |
17 | g.58273516G>A | CA400370022 | MPO | n.852C>T c.644C>T (n.644C>T) n.559C>T c.1519C>T (p.Pro507Ser) c.1705C>T (p.Pro569Ser) c.1234C>T (p.Pro412Ser) c.*68C>T (n.*68C>T) | gnomAD v4 |
17 | g.58273516G>C | CA400370012 | MPO | n.852C>G c.644C>G (n.644C>G) n.559C>G c.1519C>G (p.Pro507Ala) c.1705C>G (p.Pro569Ala) c.1234C>G (p.Pro412Ala) c.*68C>G (n.*68C>G) | |
17 | g.58273516G>T | CA400370020 | MPO | n.852C>A c.644C>A (n.644C>A) n.559C>A c.1519C>A (p.Pro507Thr) c.1705C>A (p.Pro569Thr) c.1234C>A (p.Pro412Thr) c.*68C>A (n.*68C>A) | |
17 | g.58273517T>A | CA400370024 | MPO | n.851A>T c.643A>T (n.643A>T) n.558A>T c.1518A>T (p.Gln506His) c.1704A>T (p.Gln568His) c.1233A>T (p.Gln411His) c.*67A>T (n.*67A>T) | |
17 | g.58273517T>C | CA501022623 | MPO | n.851A>G c.643A>G (n.643A>G) n.558A>G c.1518A>G (p.Gln506=) c.1704A>G (p.Gln568=) c.1233A>G (p.Gln411=) c.*67A>G (n.*67A>G) | COSMIC COSMIC |
17 | g.58273517T>G | CA400370027 | MPO | n.851A>C c.643A>C (n.643A>C) n.558A>C c.1518A>C (p.Gln506His) c.1704A>C (p.Gln568His) c.1233A>C (p.Gln411His) c.*67A>C (n.*67A>C) | |
17 | g.58273518T>A | CA400370029 | MPO | n.850A>T c.642A>T (n.642A>T) n.557A>T c.1517A>T (p.Gln506Leu) c.1703A>T (p.Gln568Leu) c.1232A>T (p.Gln411Leu) c.*66A>T (n.*66A>T) | |
17 | g.58273518T>C | CA400370031 | MPO | n.850A>G c.642A>G (n.642A>G) n.557A>G c.1517A>G (p.Gln506Arg) c.1703A>G (p.Gln568Arg) c.1232A>G (p.Gln411Arg) c.*66A>G (n.*66A>G) | |
17 | g.58273518T>G | CA400370033 | MPO | n.850A>C c.642A>C (n.642A>C) n.557A>C c.1517A>C (p.Gln506Pro) c.1703A>C (p.Gln568Pro) c.1232A>C (p.Gln411Pro) c.*66A>C (n.*66A>C) | |
17 | g.58273519G>A | CA400370036 | MPO | n.849C>T c.641C>T (n.641C>T) n.556C>T c.1516C>T (p.Gln506Ter) c.1702C>T (p.Gln568Ter) c.1231C>T (p.Gln411Ter) c.*65C>T (n.*65C>T) | |
17 | g.58273519G>C | CA400370039 | MPO | n.849C>G c.641C>G (n.641C>G) n.556C>G c.1516C>G (p.Gln506Glu) c.1702C>G (p.Gln568Glu) c.1231C>G (p.Gln411Glu) c.*65C>G (n.*65C>G) | |
17 | g.58273519G>T | CA400370038 | MPO | n.849C>A c.641C>A (n.641C>A) n.556C>A c.1516C>A (p.Gln506Lys) c.1702C>A (p.Gln568Lys) c.1231C>A (p.Gln411Lys) c.*65C>A (n.*65C>A) | |
17 | g.58273520G>A | CA501022637 | MPO | n.848C>T c.640C>T (n.640C>T) n.555C>T c.1515C>T (p.Ile505=) c.1701C>T (p.Ile567=) c.1230C>T (p.Ile410=) c.*64C>T (n.*64C>T) | |
17 | g.58273520G>C | CA400370041 | MPO | n.848C>G c.640C>G (n.640C>G) n.555C>G c.1515C>G (p.Ile505Met) c.1701C>G (p.Ile567Met) c.1230C>G (p.Ile410Met) c.*64C>G (n.*64C>G) | |
17 | g.58273520G>T | CA501022640 | MPO | n.848C>A c.640C>A (n.640C>A) n.555C>A c.1515C>A (p.Ile505=) c.1701C>A (p.Ile567=) c.1230C>A (p.Ile410=) c.*64C>A (n.*64C>A) | |
17 | g.58273521del | CA2638968661 | MPO | n.847del c.639del (n.639del) n.554del c.1514del (p.Ile505ThrfsTer?) c.1700del (p.Ile567ThrfsTer?) c.1229del (p.Ile410ThrfsTer?) c.*63del (n.*63del) | gnomAD v4 |
17 | g.58273521A>C | CA400370045 | MPO | n.847T>G c.639T>G (n.639T>G) n.554T>G c.1514T>G (p.Ile505Ser) c.1700T>G (p.Ile567Ser) c.1229T>G (p.Ile410Ser) c.*63T>G (n.*63T>G) | |
17 | g.58273521A>G | CA400370046 | MPO | n.847T>C c.639T>C (n.639T>C) n.554T>C c.1514T>C (p.Ile505Thr) c.1700T>C (p.Ile567Thr) c.1229T>C (p.Ile410Thr) c.*63T>C (n.*63T>C) | |
17 | g.58273521A>T | CA400370048 | MPO | n.847T>A c.639T>A (n.639T>A) n.554T>A c.1514T>A (p.Ile505Asn) c.1700T>A (p.Ile567Asn) c.1229T>A (p.Ile410Asn) c.*63T>A (n.*63T>A) | |
17 | g.58273522T>A | CA400370050 | MPO | n.846A>T c.638A>T (n.638A>T) n.553A>T c.1513A>T (p.Ile505Phe) c.1699A>T (p.Ile567Phe) c.1228A>T (p.Ile410Phe) c.*62A>T (n.*62A>T) | |
17 | g.58273522T>C | CA400370052 | MPO | n.846A>G c.638A>G (n.638A>G) n.553A>G c.1513A>G (p.Ile505Val) c.1699A>G (p.Ile567Val) c.1228A>G (p.Ile410Val) c.*62A>G (n.*62A>G) | |
17 | g.58273522T>G | CA8670607 | MPO | n.846A>C c.638A>C (n.638A>C) n.553A>C c.1513A>C (p.Ile505Leu) c.1699A>C (p.Ile567Leu) c.1228A>C (p.Ile410Leu) c.*62A>C (n.*62A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273522T= | CA2267631292 | MPO | n.846A= c.638A= (n.638A=) n.553A= c.1513A= (p.Ile505=) c.1699A= (p.Ile567=) c.1228A= (p.Ile410=) c.*62A= (n.*62A=) | |
17 | g.58273523G>A | CA8670608 | MPO | n.845C>T c.637C>T (n.637C>T) n.552C>T c.1512C>T (p.Leu504=) c.1698C>T (p.Leu566=) c.1227C>T (p.Leu409=) c.*61C>T (n.*61C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273523G>C | CA501022663 | MPO | n.845C>G c.637C>G (n.637C>G) n.552C>G c.1512C>G (p.Leu504=) c.1698C>G (p.Leu566=) c.1227C>G (p.Leu409=) c.*61C>G (n.*61C>G) | |
17 | g.58273523G= | CA2267631293 | MPO | n.845C= c.637C= (n.637C=) n.552C= c.1512C= (p.Leu504=) c.1698C= (p.Leu566=) c.1227C= (p.Leu409=) c.*61C= (n.*61C=) | |
17 | g.58273523G>T | CA501022665 | MPO | n.845C>A c.637C>A (n.637C>A) n.552C>A c.1512C>A (p.Leu504=) c.1698C>A (p.Leu566=) c.1227C>A (p.Leu409=) c.*61C>A (n.*61C>A) | |
17 | g.58273524A>C | CA400370060 | MPO | n.844T>G c.636T>G (n.636T>G) n.551T>G c.1511T>G (p.Leu504Arg) c.1697T>G (p.Leu566Arg) c.1226T>G (p.Leu409Arg) c.*60T>G (n.*60T>G) | |
17 | g.58273524A>G | CA400370061 | MPO | n.844T>C c.636T>C (n.636T>C) n.551T>C c.1511T>C (p.Leu504Pro) c.1697T>C (p.Leu566Pro) c.1226T>C (p.Leu409Pro) c.*60T>C (n.*60T>C) | gnomAD v4 |
17 | g.58273524A>T | CA400370064 | MPO | n.844T>A c.636T>A (n.636T>A) n.551T>A c.1511T>A (p.Leu504His) c.1697T>A (p.Leu566His) c.1226T>A (p.Leu409His) c.*60T>A (n.*60T>A) | |
17 | g.58273525G>A | CA8670610 | MPO | n.843C>T c.635C>T (n.635C>T) n.550C>T c.1510C>T (p.Leu504Phe) c.1696C>T (p.Leu566Phe) c.1225C>T (p.Leu409Phe) c.*59C>T (n.*59C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273525G>C | CA8670609 | MPO | n.843C>G c.635C>G (n.635C>G) n.550C>G c.1510C>G (p.Leu504Val) c.1696C>G (p.Leu566Val) c.1225C>G (p.Leu409Val) c.*59C>G (n.*59C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273525G= | CA2267631294 | MPO | n.843C= c.635C= (n.635C=) n.550C= c.1510C= (p.Leu504=) c.1696C= (p.Leu566=) c.1225C= (p.Leu409=) c.*59C= (n.*59C=) | |
17 | g.58273525G>T | CA400370067 | MPO | n.843C>A c.635C>A (n.635C>A) n.550C>A c.1510C>A (p.Leu504Ile) c.1696C>A (p.Leu566Ile) c.1225C>A (p.Leu409Ile) c.*59C>A (n.*59C>A) | |
17 | g.58273526G>A | CA501022679 | MPO | n.842C>T c.634C>T (n.634C>T) n.549C>T c.1509C>T (p.Thr503=) c.1695C>T (p.Thr565=) c.1224C>T (p.Thr408=) c.*58C>T (n.*58C>T) | |
17 | g.58273526G>C | CA501022680 | MPO | n.842C>G c.634C>G (n.634C>G) n.549C>G c.1509C>G (p.Thr503=) c.1695C>G (p.Thr565=) c.1224C>G (p.Thr408=) c.*58C>G (n.*58C>G) | |
17 | g.58273526G= | CA2267631295 | MPO | n.842C= c.634C= (n.634C=) n.549C= c.1509C= (p.Thr503=) c.1695C= (p.Thr565=) c.1224C= (p.Thr408=) c.*58C= (n.*58C=) | |
17 | g.58273526G>T | CA501022682 | MPO | n.842C>A c.634C>A (n.634C>A) n.549C>A c.1509C>A (p.Thr503=) c.1695C>A (p.Thr565=) c.1224C>A (p.Thr408=) c.*58C>A (n.*58C>A) | dbSNP gnomAD v4 |
17 | g.58273527G>A | CA400370073 | MPO | n.841C>T c.633C>T (n.633C>T) n.548C>T c.1508C>T (p.Thr503Ile) c.1694C>T (p.Thr565Ile) c.1223C>T (p.Thr408Ile) c.*57C>T (n.*57C>T) | |
17 | g.58273527G>C | CA400370071 | MPO | n.841C>G c.633C>G (n.633C>G) n.548C>G c.1508C>G (p.Thr503Ser) c.1694C>G (p.Thr565Ser) c.1223C>G (p.Thr408Ser) c.*57C>G (n.*57C>G) | |
17 | g.58273527G>T | CA400370075 | MPO | n.841C>A c.633C>A (n.633C>A) n.548C>A c.1508C>A (p.Thr503Asn) c.1694C>A (p.Thr565Asn) c.1223C>A (p.Thr408Asn) c.*57C>A (n.*57C>A) | gnomAD v4 |
17 | g.58273528T>A | CA400370077 | MPO | n.840A>T c.632A>T (n.632A>T) n.547A>T c.1507A>T (p.Thr503Ser) c.1693A>T (p.Thr565Ser) c.1222A>T (p.Thr408Ser) c.*56A>T (n.*56A>T) | |
17 | g.58273528T>C | CA292012265 | MPO | n.840A>G c.632A>G (n.632A>G) n.547A>G c.1507A>G (p.Thr503Ala) c.1693A>G (p.Thr565Ala) c.1222A>G (p.Thr408Ala) c.*56A>G (n.*56A>G) | dbSNP |
17 | g.58273528T>G | CA400370081 | MPO | n.840A>C c.632A>C (n.632A>C) n.547A>C c.1507A>C (p.Thr503Pro) c.1693A>C (p.Thr565Pro) c.1222A>C (p.Thr408Pro) c.*56A>C (n.*56A>C) | |
17 | g.58273528T= | CA2267631296 | MPO | n.840A= c.632A= (n.632A=) n.547A= c.1507A= (p.Thr503=) c.1693A= (p.Thr565=) c.1222A= (p.Thr408=) c.*56A= (n.*56A=) | |
17 | g.58273529G>A | CA501022693 | MPO | n.839C>T c.631C>T (n.631C>T) n.546C>T c.1506C>T (p.His502=) c.1692C>T (p.His564=) c.1221C>T (p.His407=) c.*55C>T (n.*55C>T) | |
17 | g.58273529G>C | CA400370084 | MPO | n.839C>G c.631C>G (n.631C>G) n.546C>G c.1506C>G (p.His502Gln) c.1692C>G (p.His564Gln) c.1221C>G (p.His407Gln) c.*55C>G (n.*55C>G) | |
17 | g.58273529G>T | CA400370086 | MPO | n.839C>A c.631C>A (n.631C>A) n.546C>A c.1506C>A (p.His502Gln) c.1692C>A (p.His564Gln) c.1221C>A (p.His407Gln) c.*55C>A (n.*55C>A) | |
17 | g.58273530T>A | CA400370090 | MPO | n.838A>T c.630A>T (n.630A>T) n.545A>T c.1505A>T (p.His502Leu) c.1691A>T (p.His564Leu) c.1220A>T (p.His407Leu) c.*54A>T (n.*54A>T) | |
17 | g.58273530T>C | CA400370094 | MPO | n.838A>G c.630A>G (n.630A>G) n.545A>G c.1505A>G (p.His502Arg) c.1691A>G (p.His564Arg) c.1220A>G (p.His407Arg) c.*54A>G (n.*54A>G) | |
17 | g.58273530T>G | CA400370097 | MPO | n.838A>C c.630A>C (n.630A>C) n.545A>C c.1505A>C (p.His502Pro) c.1691A>C (p.His564Pro) c.1220A>C (p.His407Pro) c.*54A>C (n.*54A>C) | |
17 | g.58273531G>A | CA400370100 | MPO | n.837C>T c.629C>T (n.629C>T) n.544C>T c.1504C>T (p.His502Tyr) c.1690C>T (p.His564Tyr) c.1219C>T (p.His407Tyr) c.*53C>T (n.*53C>T) | |
17 | g.58273531G>C | CA400370106 | MPO | n.837C>G c.629C>G (n.629C>G) n.544C>G c.1504C>G (p.His502Asp) c.1690C>G (p.His564Asp) c.1219C>G (p.His407Asp) c.*53C>G (n.*53C>G) | |
17 | g.58273531G>T | CA400370103 | MPO | n.837C>A c.629C>A (n.629C>A) n.544C>A c.1504C>A (p.His502Asn) c.1690C>A (p.His564Asn) c.1219C>A (p.His407Asn) c.*53C>A (n.*53C>A) | |
17 | g.58273532G>A | CA292012271 | MPO | n.836C>T c.628C>T (n.628C>T) n.543C>T c.1503C>T (p.Gly501=) c.1689C>T (p.Gly563=) c.1218C>T (p.Gly406=) c.*52C>T (n.*52C>T) | dbSNP |
17 | g.58273532G>C | CA501022711 | MPO | n.836C>G c.628C>G (n.628C>G) n.543C>G c.1503C>G (p.Gly501=) c.1689C>G (p.Gly563=) c.1218C>G (p.Gly406=) c.*52C>G (n.*52C>G) | |
17 | g.58273532G= | CA2267631297 | MPO | n.836C= c.628C= (n.628C=) n.543C= c.1503C= (p.Gly501=) c.1689C= (p.Gly563=) c.1218C= (p.Gly406=) c.*52C= (n.*52C=) | |
17 | g.58273532G>T | CA501022715 | MPO | n.836C>A c.628C>A (n.628C>A) n.543C>A c.1503C>A (p.Gly501=) c.1689C>A (p.Gly563=) c.1218C>A (p.Gly406=) c.*52C>A (n.*52C>A) | |
17 | g.58273533C>A | CA8670611 | MPO | n.835G>T c.627G>T (n.627G>T) n.542G>T c.1502G>T (p.Gly501Val) c.1688G>T (p.Gly563Val) c.1217G>T (p.Gly406Val) c.*51G>T (n.*51G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273533C= | CA2267631298 | MPO | n.835G= c.627G= (n.627G=) n.542G= c.1502G= (p.Gly501=) c.1688G= (p.Gly563=) c.1217G= (p.Gly406=) c.*51G= (n.*51G=) | |
17 | g.58273533C>G | CA400370115 | MPO | n.835G>C c.627G>C (n.627G>C) n.542G>C c.1502G>C (p.Gly501Ala) c.1688G>C (p.Gly563Ala) c.1217G>C (p.Gly406Ala) c.*51G>C (n.*51G>C) | |
17 | g.58273533C>T | CA400370117 | MPO | n.835G>A c.627G>A (n.627G>A) n.542G>A c.1502G>A (p.Gly501Asp) c.1688G>A (p.Gly563Asp) c.1217G>A (p.Gly406Asp) c.*51G>A (n.*51G>A) | |
17 | g.58273534C>A | CA400370119 | MPO | n.834G>T c.626G>T (n.626G>T) n.541G>T c.1501G>T (p.Gly501Cys) c.1687G>T (p.Gly563Cys) c.1216G>T (p.Gly406Cys) c.*50G>T (n.*50G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.58273534C= | CA2267631299 | MPO | n.834G= c.626G= (n.626G=) n.541G= c.1501G= (p.Gly501=) c.1687G= (p.Gly563=) c.1216G= (p.Gly406=) c.*50G= (n.*50G=) | |
17 | g.58273534C>G | CA400370121 | MPO | n.834G>C c.626G>C (n.626G>C) n.541G>C c.1501G>C (p.Gly501Arg) c.1687G>C (p.Gly563Arg) c.1216G>C (p.Gly406Arg) c.*50G>C (n.*50G>C) | |
17 | g.58273534C>T | CA116393 | MPO | n.834G>A c.626G>A (n.626G>A) n.541G>A c.1501G>A (p.Gly501Ser) c.1687G>A (p.Gly563Ser) c.1216G>A (p.Gly406Ser) c.*50G>A (n.*50G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273535G>A | CA8670612 | MPO | n.833C>T c.625C>T (n.625C>T) n.540C>T c.1500C>T (p.Tyr500=) c.1686C>T (p.Tyr562=) c.1215C>T (p.Tyr405=) c.*49C>T (n.*49C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273535G>C | CA400370123 | MPO | n.833C>G c.625C>G (n.625C>G) n.540C>G c.1500C>G (p.Tyr500Ter) c.1686C>G (p.Tyr562Ter) c.1215C>G (p.Tyr405Ter) c.*49C>G (n.*49C>G) | |
17 | g.58273535G= | CA2267631300 | MPO | n.833C= c.625C= (n.625C=) n.540C= c.1500C= (p.Tyr500=) c.1686C= (p.Tyr562=) c.1215C= (p.Tyr405=) c.*49C= (n.*49C=) | |
17 | g.58273535G>T | CA400370125 | MPO | n.833C>A c.625C>A (n.625C>A) n.540C>A c.1500C>A (p.Tyr500Ter) c.1686C>A (p.Tyr562Ter) c.1215C>A (p.Tyr405Ter) c.*49C>A (n.*49C>A) | |
17 | g.58273536T>A | CA400370127 | MPO | n.832A>T c.624A>T (n.624A>T) n.539A>T c.1499A>T (p.Tyr500Phe) c.1685A>T (p.Tyr562Phe) c.1214A>T (p.Tyr405Phe) c.*48A>T (n.*48A>T) | |
17 | g.58273536T>C | CA400370130 | MPO | n.832A>G c.624A>G (n.624A>G) n.539A>G c.1499A>G (p.Tyr500Cys) c.1685A>G (p.Tyr562Cys) c.1214A>G (p.Tyr405Cys) c.*48A>G (n.*48A>G) | |
17 | g.58273536T>G | CA400370132 | MPO | n.832A>C c.624A>C (n.624A>C) n.539A>C c.1499A>C (p.Tyr500Ser) c.1685A>C (p.Tyr562Ser) c.1214A>C (p.Tyr405Ser) c.*48A>C (n.*48A>C) | |
17 | g.58273537A>C | CA400370133 | MPO | n.831T>G c.623T>G (n.623T>G) n.538T>G c.1498T>G (p.Tyr500Asp) c.1684T>G (p.Tyr562Asp) c.1213T>G (p.Tyr405Asp) c.*47T>G (n.*47T>G) | |
17 | g.58273537A>G | CA400370135 | MPO | n.831T>C c.623T>C (n.623T>C) n.538T>C c.1498T>C (p.Tyr500His) c.1684T>C (p.Tyr562His) c.1213T>C (p.Tyr405His) c.*47T>C (n.*47T>C) | |
17 | g.58273537A>T | CA400370137 | MPO | n.831T>A c.623T>A (n.623T>A) n.538T>A c.1498T>A (p.Tyr500Asn) c.1684T>A (p.Tyr562Asn) c.1213T>A (p.Tyr405Asn) c.*47T>A (n.*47T>A) | |
17 | g.58273538G>A | CA501022748 | MPO | n.830C>T c.622C>T (n.622C>T) n.537C>T c.1497C>T (p.Arg499=) c.1683C>T (p.Arg561=) c.1212C>T (p.Arg404=) c.*46C>T (n.*46C>T) | |
17 | g.58273538G>C | CA501022752 | MPO | n.830C>G c.622C>G (n.622C>G) n.537C>G c.1497C>G (p.Arg499=) c.1683C>G (p.Arg561=) c.1212C>G (p.Arg404=) c.*46C>G (n.*46C>G) | |
17 | g.58273538G>T | CA501022750 | MPO | n.830C>A c.622C>A (n.622C>A) n.537C>A c.1497C>A (p.Arg499=) c.1683C>A (p.Arg561=) c.1212C>A (p.Arg404=) c.*46C>A (n.*46C>A) | |
17 | g.58273539C>A | CA400370138 | MPO | n.829G>T c.621G>T (n.621G>T) n.536G>T c.1496G>T (p.Arg499Leu) c.1682G>T (p.Arg561Leu) c.1211G>T (p.Arg404Leu) c.*45G>T (n.*45G>T) | dbSNP gnomAD v2 |
17 | g.58273539C= | CA2267631301 | MPO | n.829G= c.621G= (n.621G=) n.536G= c.1496G= (p.Arg499=) c.1682G= (p.Arg561=) c.1211G= (p.Arg404=) c.*45G= (n.*45G=) | |
17 | g.58273539C>G | CA400370140 | MPO | n.829G>C c.621G>C (n.621G>C) n.536G>C c.1496G>C (p.Arg499Pro) c.1682G>C (p.Arg561Pro) c.1211G>C (p.Arg404Pro) c.*45G>C (n.*45G>C) | |
17 | g.58273539C>T | CA8670613 | MPO | n.829G>A c.621G>A (n.621G>A) n.536G>A c.1496G>A (p.Arg499His) c.1682G>A (p.Arg561His) c.1211G>A (p.Arg404His) c.*45G>A (n.*45G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273540G>A | CA116396 | MPO | n.828C>T c.620C>T (n.620C>T) n.535C>T c.1495C>T (p.Arg499Cys) c.1681C>T (p.Arg561Cys) c.1210C>T (p.Arg404Cys) c.*44C>T (n.*44C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.58273540G>C | CA400370145 | MPO | n.828C>G c.620C>G (n.620C>G) n.535C>G c.1495C>G (p.Arg499Gly) c.1681C>G (p.Arg561Gly) c.1210C>G (p.Arg404Gly) c.*44C>G (n.*44C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.58273540G= | CA2267631302 | MPO | n.828C= c.620C= (n.620C=) n.535C= c.1495C= (p.Arg499=) c.1681C= (p.Arg561=) c.1210C= (p.Arg404=) c.*44C= (n.*44C=) | |
17 | g.58273540G>T | CA400370143 | MPO | n.828C>A c.620C>A (n.620C>A) n.535C>A c.1495C>A (p.Arg499Ser) c.1681C>A (p.Arg561Ser) c.1210C>A (p.Arg404Ser) c.*44C>A (n.*44C>A) | |
17 | g.58273541G>A | CA8670614 | MPO | n.827C>T c.619C>T (n.619C>T) n.534C>T c.1494C>T (p.Phe498=) c.1680C>T (p.Phe560=) c.1209C>T (p.Phe403=) c.*43C>T (n.*43C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273541G>C | CA400370146 | MPO | n.827C>G c.619C>G (n.619C>G) n.534C>G c.1494C>G (p.Phe498Leu) c.1680C>G (p.Phe560Leu) c.1209C>G (p.Phe403Leu) c.*43C>G (n.*43C>G) | |
17 | g.58273541G= | CA2267631303 | MPO | n.827C= c.619C= (n.619C=) n.534C= c.1494C= (p.Phe498=) c.1680C= (p.Phe560=) c.1209C= (p.Phe403=) c.*43C= (n.*43C=) | |
17 | g.58273541G>T | CA400370147 | MPO | n.827C>A c.619C>A (n.619C>A) n.534C>A c.1494C>A (p.Phe498Leu) c.1680C>A (p.Phe560Leu) c.1209C>A (p.Phe403Leu) c.*43C>A (n.*43C>A) | |
17 | g.58273542A= | CA2267631304 | MPO | n.826T= c.618T= (n.618T=) n.533T= c.1493T= (p.Phe498=) c.1679T= (p.Phe560=) c.1208T= (p.Phe403=) c.*42T= (n.*42T=) | |
17 | g.58273542A>C | CA400370148 | MPO | n.826T>G c.618T>G (n.618T>G) n.533T>G c.1493T>G (p.Phe498Cys) c.1679T>G (p.Phe560Cys) c.1208T>G (p.Phe403Cys) c.*42T>G (n.*42T>G) | |
17 | g.58273542A>G | CA8670615 | MPO | n.826T>C c.618T>C (n.618T>C) n.533T>C c.1493T>C (p.Phe498Ser) c.1679T>C (p.Phe560Ser) c.1208T>C (p.Phe403Ser) c.*42T>C (n.*42T>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.58273542A>T | CA400370149 | MPO | n.826T>A c.618T>A (n.618T>A) n.533T>A c.1493T>A (p.Phe498Tyr) c.1679T>A (p.Phe560Tyr) c.1208T>A (p.Phe403Tyr) c.*42T>A (n.*42T>A) | |
17 | g.58273543A= | CA2267631305 | MPO | n.825T= c.617T= (n.617T=) n.532T= c.1492T= (p.Phe498=) c.1678T= (p.Phe560=) c.1207T= (p.Phe403=) c.*41T= (n.*41T=) | |
17 | g.58273543A>C | CA400370151 | MPO | n.825T>G c.617T>G (n.617T>G) n.532T>G c.1492T>G (p.Phe498Val) c.1678T>G (p.Phe560Val) c.1207T>G (p.Phe403Val) c.*41T>G (n.*41T>G) | dbSNP |
17 | g.58273543A>G | CA400370152 | MPO | n.825T>C c.617T>C (n.617T>C) n.532T>C c.1492T>C (p.Phe498Leu) c.1678T>C (p.Phe560Leu) c.1207T>C (p.Phe403Leu) c.*41T>C (n.*41T>C) | |
17 | g.58273543A>T | CA400370157 | MPO | n.825T>A c.617T>A (n.617T>A) n.532T>A c.1492T>A (p.Phe498Ile) c.1678T>A (p.Phe560Ile) c.1207T>A (p.Phe403Ile) c.*41T>A (n.*41T>A) | |
17 | g.58273544G>A | CA501022771 | MPO | n.824C>T c.616C>T (n.616C>T) n.531C>T c.1491C>T (p.Ala497=) c.1677C>T (p.Ala559=) c.1206C>T (p.Ala402=) c.*40C>T (n.*40C>T) | |
17 | g.58273544G>C | CA501022774 | MPO | n.824C>G c.616C>G (n.616C>G) n.531C>G c.1491C>G (p.Ala497=) c.1677C>G (p.Ala559=) c.1206C>G (p.Ala402=) c.*40C>G (n.*40C>G) | |
17 | g.58273544G>T | CA501022775 | MPO | n.824C>A c.616C>A (n.616C>A) n.531C>A c.1491C>A (p.Ala497=) c.1677C>A (p.Ala559=) c.1206C>A (p.Ala402=) c.*40C>A (n.*40C>A) | |
17 | g.58273545G>A | CA400370158 | MPO | n.823C>T c.615C>T (n.615C>T) n.530C>T c.1490C>T (p.Ala497Val) c.1676C>T (p.Ala559Val) c.1205C>T (p.Ala402Val) c.*39C>T (n.*39C>T) | gnomAD v4 |
17 | g.58273545G>C | CA400370160 | MPO | n.823C>G c.615C>G (n.615C>G) n.530C>G c.1490C>G (p.Ala497Gly) c.1676C>G (p.Ala559Gly) c.1205C>G (p.Ala402Gly) c.*39C>G (n.*39C>G) | dbSNP |
17 | g.58273545G= | CA2267631306 | MPO | n.823C= c.615C= (n.615C=) n.530C= c.1490C= (p.Ala497=) c.1676C= (p.Ala559=) c.1205C= (p.Ala402=) c.*39C= (n.*39C=) | |
17 | g.58273545G>T | CA400370161 | MPO | n.823C>A c.615C>A (n.615C>A) n.530C>A c.1490C>A (p.Ala497Asp) c.1676C>A (p.Ala559Asp) c.1205C>A (p.Ala402Asp) c.*39C>A (n.*39C>A) | |
17 | g.58273546C>A | CA400370166 | MPO | n.822G>T c.614G>T (n.614G>T) n.529G>T c.1489G>T (p.Ala497Ser) c.1675G>T (p.Ala559Ser) c.1204G>T (p.Ala402Ser) c.*38G>T (n.*38G>T) | |
17 | g.58273546C>G | CA400370163 | MPO | n.822G>C c.614G>C (n.614G>C) n.529G>C c.1489G>C (p.Ala497Pro) c.1675G>C (p.Ala559Pro) c.1204G>C (p.Ala402Pro) c.*38G>C (n.*38G>C) | |
17 | g.58273546C>T | CA400370164 | MPO | n.822G>A c.614G>A (n.614G>A) n.529G>A c.1489G>A (p.Ala497Thr) c.1675G>A (p.Ala559Thr) c.1204G>A (p.Ala402Thr) c.*38G>A (n.*38G>A) | |
17 | g.58273547_58273558del | CA2638968766 | MPO | n.811_822del c.603_614del (n.603_614del) n.518_529del c.1478_1489del (p.Val493_Asn496del) c.1664_1675del (p.Val555_Asn558del) c.1193_1204del (p.Val398_Asn401del) c.*27_*38del (n.*27_*38del) | gnomAD v4 |
17 | g.58273547A>C | CA400370167 | MPO | n.821T>G c.613T>G (n.613T>G) n.528T>G c.1488T>G (p.Asn496Lys) c.1674T>G (p.Asn558Lys) c.1203T>G (p.Asn401Lys) c.*37T>G (n.*37T>G) | |
17 | g.58273547A>G | CA501022807 | MPO | n.821T>C c.613T>C (n.613T>C) n.528T>C c.1488T>C (p.Asn496=) c.1674T>C (p.Asn558=) c.1203T>C (p.Asn401=) c.*37T>C (n.*37T>C) | |
17 | g.58273547A>T | CA400370169 | MPO | n.821T>A c.613T>A (n.613T>A) n.528T>A c.1488T>A (p.Asn496Lys) c.1674T>A (p.Asn558Lys) c.1203T>A (p.Asn401Lys) c.*37T>A (n.*37T>A) | |
17 | g.58273548T>A | CA400370171 | MPO | n.820A>T c.612A>T (n.612A>T) n.527A>T c.1487A>T (p.Asn496Ile) c.1673A>T (p.Asn558Ile) c.1202A>T (p.Asn401Ile) c.*36A>T (n.*36A>T) | |
17 | g.58273548T>C | CA400370173 | MPO | n.820A>G c.612A>G (n.612A>G) n.527A>G c.1487A>G (p.Asn496Ser) c.1673A>G (p.Asn558Ser) c.1202A>G (p.Asn401Ser) c.*36A>G (n.*36A>G) | |
17 | g.58273548T>G | CA8670616 | MPO | n.820A>C c.612A>C (n.612A>C) n.527A>C c.1487A>C (p.Asn496Thr) c.1673A>C (p.Asn558Thr) c.1202A>C (p.Asn401Thr) c.*36A>C (n.*36A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273548T= | CA2267631307 | MPO | n.820A= c.612A= (n.612A=) n.527A= c.1487A= (p.Asn496=) c.1673A= (p.Asn558=) c.1202A= (p.Asn401=) c.*36A= (n.*36A=) | |
17 | g.58273549T>A | CA400370176 | MPO | n.819A>T c.611A>T (n.611A>T) n.526A>T c.1486A>T (p.Asn496Tyr) c.1672A>T (p.Asn558Tyr) c.1201A>T (p.Asn401Tyr) c.*35A>T (n.*35A>T) | |
17 | g.58273549T>C | CA400370177 | MPO | n.819A>G c.611A>G (n.611A>G) n.526A>G c.1486A>G (p.Asn496Asp) c.1672A>G (p.Asn558Asp) c.1201A>G (p.Asn401Asp) c.*35A>G (n.*35A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.58273549T>G | CA400370179 | MPO | n.819A>C c.611A>C (n.611A>C) n.526A>C c.1486A>C (p.Asn496His) c.1672A>C (p.Asn558His) c.1201A>C (p.Asn401His) c.*35A>C (n.*35A>C) | |
17 | g.58273549T= | CA2267631308 | MPO | n.819A= c.611A= (n.611A=) n.526A= c.1486A= (p.Asn496=) c.1672A= (p.Asn558=) c.1201A= (p.Asn401=) c.*35A= (n.*35A=) | |
17 | g.58273550G>A | CA501022823 | MPO | n.818C>T c.610C>T (n.610C>T) n.525C>T c.1485C>T (p.Thr495=) c.1671C>T (p.Thr557=) c.1200C>T (p.Thr400=) c.*34C>T (n.*34C>T) | |
17 | g.58273550G>C | CA501022828 | MPO | n.818C>G c.610C>G (n.610C>G) n.525C>G c.1485C>G (p.Thr495=) c.1671C>G (p.Thr557=) c.1200C>G (p.Thr400=) c.*34C>G (n.*34C>G) | |
17 | g.58273550G= | CA2267631309 | MPO | n.818C= c.610C= (n.610C=) n.525C= c.1485C= (p.Thr495=) c.1671C= (p.Thr557=) c.1200C= (p.Thr400=) c.*34C= (n.*34C=) | |
17 | g.58273550G>T | CA501022825 | MPO | n.818C>A c.610C>A (n.610C>A) n.525C>A c.1485C>A (p.Thr495=) c.1671C>A (p.Thr557=) c.1200C>A (p.Thr400=) c.*34C>A (n.*34C>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.58273551del | CA2638968786 | MPO | n.818del c.610del (n.610del) n.525del c.1485del (p.Asn496MetfsTer?) c.1671del (p.Asn558MetfsTer?) c.1200del (p.Asn401MetfsTer?) c.*34del (n.*34del) | gnomAD v4 |
17 | g.58273551G>A | CA8670617 | MPO | n.817C>T c.609C>T (n.609C>T) n.524C>T c.1484C>T (p.Thr495Ile) c.1670C>T (p.Thr557Ile) c.1199C>T (p.Thr400Ile) c.*33C>T (n.*33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273551G>C | CA400370181 | MPO | n.817C>G c.609C>G (n.609C>G) n.524C>G c.1484C>G (p.Thr495Ser) c.1670C>G (p.Thr557Ser) c.1199C>G (p.Thr400Ser) c.*33C>G (n.*33C>G) | |
17 | g.58273551G= | CA2267631310 | MPO | n.817C= c.609C= (n.609C=) n.524C= c.1484C= (p.Thr495=) c.1670C= (p.Thr557=) c.1199C= (p.Thr400=) c.*33C= (n.*33C=) | |
17 | g.58273551G>T | CA8670618 | MPO | n.817C>A c.609C>A (n.609C>A) n.524C>A c.1484C>A (p.Thr495Asn) c.1670C>A (p.Thr557Asn) c.1199C>A (p.Thr400Asn) c.*33C>A (n.*33C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273552T>A | CA400370184 | MPO | n.816A>T c.608A>T (n.608A>T) n.523A>T c.1483A>T (p.Thr495Ser) c.1669A>T (p.Thr557Ser) c.1198A>T (p.Thr400Ser) c.*32A>T (n.*32A>T) | |
17 | g.58273552T>C | CA8670619 | MPO | n.816A>G c.608A>G (n.608A>G) n.523A>G c.1483A>G (p.Thr495Ala) c.1669A>G (p.Thr557Ala) c.1198A>G (p.Thr400Ala) c.*32A>G (n.*32A>G) | dbSNP ExAC gnomAD v4 |
17 | g.58273552T>G | CA8670620 | MPO | n.816A>C c.608A>C (n.608A>C) n.523A>C c.1483A>C (p.Thr495Pro) c.1669A>C (p.Thr557Pro) c.1198A>C (p.Thr400Pro) c.*32A>C (n.*32A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273552T= | CA2267631311 | MPO | n.816A= c.608A= (n.608A=) n.523A= c.1483A= (p.Thr495=) c.1669A= (p.Thr557=) c.1198A= (p.Thr400=) c.*32A= (n.*32A=) | |
17 | g.58273553G>A | CA8670621 | MPO | n.815C>T c.607C>T (n.607C>T) n.522C>T c.1482C>T (p.Phe494=) c.1668C>T (p.Phe556=) c.1197C>T (p.Phe399=) c.*31C>T (n.*31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273553G>C | CA400370188 | MPO | n.815C>G c.607C>G (n.607C>G) n.522C>G c.1482C>G (p.Phe494Leu) c.1668C>G (p.Phe556Leu) c.1197C>G (p.Phe399Leu) c.*31C>G (n.*31C>G) | |
17 | g.58273553G= | CA2267631312 | MPO | n.815C= c.607C= (n.607C=) n.522C= c.1482C= (p.Phe494=) c.1668C= (p.Phe556=) c.1197C= (p.Phe399=) c.*31C= (n.*31C=) | |
17 | g.58273553G>T | CA400370186 | MPO | n.815C>A c.607C>A (n.607C>A) n.522C>A c.1482C>A (p.Phe494Leu) c.1668C>A (p.Phe556Leu) c.1197C>A (p.Phe399Leu) c.*31C>A (n.*31C>A) | |
17 | g.58273554A>C | CA400370190 | MPO | n.814T>G c.606T>G (n.606T>G) n.521T>G c.1481T>G (p.Phe494Cys) c.1667T>G (p.Phe556Cys) c.1196T>G (p.Phe399Cys) c.*30T>G (n.*30T>G) | |
17 | g.58273554A>G | CA400370192 | MPO | n.814T>C c.606T>C (n.606T>C) n.521T>C c.1481T>C (p.Phe494Ser) c.1667T>C (p.Phe556Ser) c.1196T>C (p.Phe399Ser) c.*30T>C (n.*30T>C) | |
17 | g.58273554A>T | CA400370193 | MPO | n.814T>A c.606T>A (n.606T>A) n.521T>A c.1481T>A (p.Phe494Tyr) c.1667T>A (p.Phe556Tyr) c.1196T>A (p.Phe399Tyr) c.*30T>A (n.*30T>A) | |
17 | g.58273555A>C | CA400370194 | MPO | n.813T>G c.605T>G (n.605T>G) n.520T>G c.1480T>G (p.Phe494Val) c.1666T>G (p.Phe556Val) c.1195T>G (p.Phe399Val) c.*29T>G (n.*29T>G) | |
17 | g.58273555A>G | CA400370195 | MPO | n.813T>C c.605T>C (n.605T>C) n.520T>C c.1480T>C (p.Phe494Leu) c.1666T>C (p.Phe556Leu) c.1195T>C (p.Phe399Leu) c.*29T>C (n.*29T>C) | |
17 | g.58273555A>T | CA400370197 | MPO | n.813T>A c.605T>A (n.605T>A) n.520T>A c.1480T>A (p.Phe494Ile) c.1666T>A (p.Phe556Ile) c.1195T>A (p.Phe399Ile) c.*29T>A (n.*29T>A) | |
17 | g.58273556G>A | CA8670622 | MPO | n.812C>T c.604C>T (n.604C>T) n.519C>T c.1479C>T (p.Val493=) c.1665C>T (p.Val555=) c.1194C>T (p.Val398=) c.*28C>T (n.*28C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273556G>C | CA501022868 | MPO | n.812C>G c.604C>G (n.604C>G) n.519C>G c.1479C>G (p.Val493=) c.1665C>G (p.Val555=) c.1194C>G (p.Val398=) c.*28C>G (n.*28C>G) | |
17 | g.58273556G= | CA2267631313 | MPO | n.812C= c.604C= (n.604C=) n.519C= c.1479C= (p.Val493=) c.1665C= (p.Val555=) c.1194C= (p.Val398=) c.*28C= (n.*28C=) | |
17 | g.58273556G>T | CA501022871 | MPO | n.812C>A c.604C>A (n.604C>A) n.519C>A c.1479C>A (p.Val493=) c.1665C>A (p.Val555=) c.1194C>A (p.Val398=) c.*28C>A (n.*28C>A) | |
17 | g.58273557A>C | CA400370199 | MPO | n.811T>G c.603T>G (n.603T>G) n.518T>G c.1478T>G (p.Val493Gly) c.1664T>G (p.Val555Gly) c.1193T>G (p.Val398Gly) c.*27T>G (n.*27T>G) | |
17 | g.58273557A>G | CA400370201 | MPO | n.811T>C c.603T>C (n.603T>C) n.518T>C c.1478T>C (p.Val493Ala) c.1664T>C (p.Val555Ala) c.1193T>C (p.Val398Ala) c.*27T>C (n.*27T>C) | |
17 | g.58273557A>T | CA400370202 | MPO | n.811T>A c.603T>A (n.603T>A) n.518T>A c.1478T>A (p.Val493Asp) c.1664T>A (p.Val555Asp) c.1193T>A (p.Val398Asp) c.*27T>A (n.*27T>A) | |
17 | g.58273558C>A | CA400370206 | MPO | n.810G>T c.602G>T (n.602G>T) n.517G>T c.1477G>T (p.Val493Phe) c.1663G>T (p.Val555Phe) c.1192G>T (p.Val398Phe) c.*26G>T (n.*26G>T) | |
17 | g.58273558C= | CA2267631314 | MPO | n.810G= c.602G= (n.602G=) n.517G= c.1477G= (p.Val493=) c.1663G= (p.Val555=) c.1192G= (p.Val398=) c.*26G= (n.*26G=) | |
17 | g.58273558C>G | CA400370205 | MPO | n.810G>C c.602G>C (n.602G>C) n.517G>C c.1477G>C (p.Val493Leu) c.1663G>C (p.Val555Leu) c.1192G>C (p.Val398Leu) c.*26G>C (n.*26G>C) | |
17 | g.58273558C>T | CA8670623 | MPO | n.810G>A c.602G>A (n.602G>A) n.517G>A c.1477G>A (p.Val493Ile) c.1663G>A (p.Val555Ile) c.1192G>A (p.Val398Ile) c.*26G>A (n.*26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273559G>A | CA8670624 | MPO | n.809C>T c.601C>T (n.601C>T) n.516C>T c.1476C>T (p.Asn492=) c.1662C>T (p.Asn554=) c.1191C>T (p.Asn397=) c.*25C>T (n.*25C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273559G>C | CA292012331 | MPO | n.809C>G c.601C>G (n.601C>G) n.516C>G c.1476C>G (p.Asn492Lys) c.1662C>G (p.Asn554Lys) c.1191C>G (p.Asn397Lys) c.*25C>G (n.*25C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.58273559G= | CA2267631315 | MPO | n.809C= c.601C= (n.601C=) n.516C= c.1476C= (p.Asn492=) c.1662C= (p.Asn554=) c.1191C= (p.Asn397=) c.*25C= (n.*25C=) | |
17 | g.58273559G>T | CA400370208 | MPO | n.809C>A c.601C>A (n.601C>A) n.516C>A c.1476C>A (p.Asn492Lys) c.1662C>A (p.Asn554Lys) c.1191C>A (p.Asn397Lys) c.*25C>A (n.*25C>A) | |
17 | g.58273560T>A | CA400370209 | MPO | n.808A>T c.600A>T (n.600A>T) n.515A>T c.1475A>T (p.Asn492Ile) c.1661A>T (p.Asn554Ile) c.1190A>T (p.Asn397Ile) c.*24A>T (n.*24A>T) | |
17 | g.58273560T>C | CA8670625 | MPO | n.808A>G c.600A>G (n.600A>G) n.515A>G c.1475A>G (p.Asn492Ser) c.1661A>G (p.Asn554Ser) c.1190A>G (p.Asn397Ser) c.*24A>G (n.*24A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273560T>G | CA400370211 | MPO | n.808A>C c.600A>C (n.600A>C) n.515A>C c.1475A>C (p.Asn492Thr) c.1661A>C (p.Asn554Thr) c.1190A>C (p.Asn397Thr) c.*24A>C (n.*24A>C) | |
17 | g.58273560T= | CA2267631316 | MPO | n.808A= c.600A= (n.600A=) n.515A= c.1475A= (p.Asn492=) c.1661A= (p.Asn554=) c.1190A= (p.Asn397=) c.*24A= (n.*24A=) | |
17 | g.58273561T>A | CA400370213 | MPO | n.807A>T c.599A>T (n.599A>T) n.514A>T c.1474A>T (p.Asn492Tyr) c.1660A>T (p.Asn554Tyr) c.1189A>T (p.Asn397Tyr) c.*23A>T (n.*23A>T) | |
17 | g.58273561T>C | CA400370214 | MPO | n.807A>G c.599A>G (n.599A>G) n.514A>G c.1474A>G (p.Asn492Asp) c.1660A>G (p.Asn554Asp) c.1189A>G (p.Asn397Asp) c.*23A>G (n.*23A>G) | |
17 | g.58273561T>G | CA400370216 | MPO | n.807A>C c.599A>C (n.599A>C) n.514A>C c.1474A>C (p.Asn492His) c.1660A>C (p.Asn554His) c.1189A>C (p.Asn397His) c.*23A>C (n.*23A>C) | |
17 | g.58273562G>A | CA501022888 | MPO | n.806C>T c.598C>T (n.598C>T) n.513C>T c.1473C>T (p.Ala491=) c.1659C>T (p.Ala553=) c.1188C>T (p.Ala396=) c.*22C>T (n.*22C>T) | |
17 | g.58273562G>C | CA501022891 | MPO | n.806C>G c.598C>G (n.598C>G) n.513C>G c.1473C>G (p.Ala491=) c.1659C>G (p.Ala553=) c.1188C>G (p.Ala396=) c.*22C>G (n.*22C>G) | |
17 | g.58273562G>T | CA501022892 | MPO | n.806C>A c.598C>A (n.598C>A) n.513C>A c.1473C>A (p.Ala491=) c.1659C>A (p.Ala553=) c.1188C>A (p.Ala396=) c.*22C>A (n.*22C>A) | |
17 | g.58273562_58273567delinsGGCGAT | CA2267631317 | MPO | n.801_806delinsATCGCC c.593_598delinsATCGCC (n.593_598delinsATCGCC) n.508_513delinsATCGCC c.1468_1473delinsATCGCC (p.Ile490=) c.1654_1659delinsATCGCC (p.Ile552=) c.1183_1188delinsATCGCC (p.Ile395=) c.*17_*22delinsATCGCC (n.*17_*22delinsATCGCC) | |
17 | g.58273563G>A | CA400370218 | MPO | n.805C>T c.597C>T (n.597C>T) n.512C>T c.1472C>T (p.Ala491Val) c.1658C>T (p.Ala553Val) c.1187C>T (p.Ala396Val) c.*21C>T (n.*21C>T) | dbSNP |
17 | g.58273563G>C | CA400370220 | MPO | n.805C>G c.597C>G (n.597C>G) n.512C>G c.1472C>G (p.Ala491Gly) c.1658C>G (p.Ala553Gly) c.1187C>G (p.Ala396Gly) c.*21C>G (n.*21C>G) | |
17 | g.58273563G= | CA2267631318 | MPO | n.805C= c.597C= (n.597C=) n.512C= c.1472C= (p.Ala491=) c.1658C= (p.Ala553=) c.1187C= (p.Ala396=) c.*21C= (n.*21C=) | |
17 | g.58273563G>T | CA400370221 | MPO | n.805C>A c.597C>A (n.597C>A) n.512C>A c.1472C>A (p.Ala491Asp) c.1658C>A (p.Ala553Asp) c.1187C>A (p.Ala396Asp) c.*21C>A (n.*21C>A) | |
17 | g.58273566_58273570del | CA773506109 | MPO | n.801_805del c.593_597del (n.593_597del) n.508_512del c.1468_1472del (p.Ile490GlnfsTer?) c.1654_1658del (p.Ile552GlnfsTer?) c.1183_1187del (p.Ile395GlnfsTer?) c.*17_*21del (n.*17_*21del) | dbSNP |
17 | g.58273564C>A | CA400370222 | MPO | n.804G>T c.596G>T (n.596G>T) n.511G>T c.1471G>T (p.Ala491Ser) c.1657G>T (p.Ala553Ser) c.1186G>T (p.Ala396Ser) c.*20G>T (n.*20G>T) | dbSNP |
17 | g.58273564C= | CA2267631319 | MPO | n.804G= c.596G= (n.596G=) n.511G= c.1471G= (p.Ala491=) c.1657G= (p.Ala553=) c.1186G= (p.Ala396=) c.*20G= (n.*20G=) | |
17 | g.58273564C>G | CA400370223 | MPO | n.804G>C c.596G>C (n.596G>C) n.511G>C c.1471G>C (p.Ala491Pro) c.1657G>C (p.Ala553Pro) c.1186G>C (p.Ala396Pro) c.*20G>C (n.*20G>C) | |
17 | g.58273564C>T | CA8670626 | MPO | n.804G>A c.596G>A (n.596G>A) n.511G>A c.1471G>A (p.Ala491Thr) c.1657G>A (p.Ala553Thr) c.1186G>A (p.Ala396Thr) c.*20G>A (n.*20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273565G>A | CA8670627 | MPO | n.803C>T c.595C>T (n.595C>T) n.510C>T c.1470C>T (p.Ile490=) c.1656C>T (p.Ile552=) c.1185C>T (p.Ile395=) c.*19C>T (n.*19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.58273565G>C | CA400370226 | MPO | n.803C>G c.595C>G (n.595C>G) n.510C>G c.1470C>G (p.Ile490Met) c.1656C>G (p.Ile552Met) c.1185C>G (p.Ile395Met) c.*19C>G (n.*19C>G) | |
17 | g.58273565G= | CA2267631320 | MPO | n.803C= c.595C= (n.595C=) n.510C= c.1470C= (p.Ile490=) c.1656C= (p.Ile552=) c.1185C= (p.Ile395=) c.*19C= (n.*19C=) | |
17 | g.58273565G>T | CA8670628 | MPO | n.803C>A c.595C>A (n.595C>A) n.510C>A c.1470C>A (p.Ile490=) c.1656C>A (p.Ile552=) c.1185C>A (p.Ile395=) c.*19C>A (n.*19C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273565_58273570dup | CA2638968861 | MPO | n.798_803dup c.590_595dup (n.590_595dup) n.505_510dup c.1465_1470dup (p.Ile490_Ala491insArgIle) c.1651_1656dup (p.Ile552_Ala553insArgIle) c.1180_1185dup (p.Ile395_Ala396insArgIle) c.*14_*19dup (n.*14_*19dup) | gnomAD v4 |
17 | g.58273566A>C | CA400370229 | MPO | n.802T>G c.594T>G (n.594T>G) n.509T>G c.1469T>G (p.Ile490Ser) c.1655T>G (p.Ile552Ser) c.1184T>G (p.Ile395Ser) c.*18T>G (n.*18T>G) | |
17 | g.58273566A>G | CA400370231 | MPO | n.802T>C c.594T>C (n.594T>C) n.509T>C c.1469T>C (p.Ile490Thr) c.1655T>C (p.Ile552Thr) c.1184T>C (p.Ile395Thr) c.*18T>C (n.*18T>C) | |
17 | g.58273566A>T | CA400370233 | MPO | n.802T>A c.594T>A (n.594T>A) n.509T>A c.1469T>A (p.Ile490Asn) c.1655T>A (p.Ile552Asn) c.1184T>A (p.Ile395Asn) c.*18T>A (n.*18T>A) | |
17 | g.58273567T>A | CA400370234 | MPO | n.801A>T c.593A>T (n.593A>T) n.508A>T c.1468A>T (p.Ile490Phe) c.1654A>T (p.Ile552Phe) c.1183A>T (p.Ile395Phe) c.*17A>T (n.*17A>T) | |
17 | g.58273567T>C | CA8670629 | MPO | n.801A>G c.593A>G (n.593A>G) n.508A>G c.1468A>G (p.Ile490Val) c.1654A>G (p.Ile552Val) c.1183A>G (p.Ile395Val) c.*17A>G (n.*17A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273567T>G | CA400370236 | MPO | n.801A>C c.593A>C (n.593A>C) n.508A>C c.1468A>C (p.Ile490Leu) c.1654A>C (p.Ile552Leu) c.1183A>C (p.Ile395Leu) c.*17A>C (n.*17A>C) | |
17 | g.58273567T= | CA2267631321 | MPO | n.801A= c.593A= (n.593A=) n.508A= c.1468A= (p.Ile490=) c.1654A= (p.Ile552=) c.1183A= (p.Ile395=) c.*17A= (n.*17A=) | |
17 | g.58273568G>A | CA501022921 | MPO | n.800C>T c.592C>T (n.592C>T) n.507C>T c.1467C>T (p.Arg489=) c.1653C>T (p.Arg551=) c.1182C>T (p.Arg394=) c.*16C>T (n.*16C>T) | |
17 | g.58273568G>C | CA501022924 | MPO | n.800C>G c.592C>G (n.592C>G) n.507C>G c.1467C>G (p.Arg489=) c.1653C>G (p.Arg551=) c.1182C>G (p.Arg394=) c.*16C>G (n.*16C>G) | |
17 | g.58273568G= | CA2267631322 | MPO | n.800C= c.592C= (n.592C=) n.507C= c.1467C= (p.Arg489=) c.1653C= (p.Arg551=) c.1182C= (p.Arg394=) c.*16C= (n.*16C=) | |
17 | g.58273568G>T | CA8670630 | MPO | n.800C>A c.592C>A (n.592C>A) n.507C>A c.1467C>A (p.Arg489=) c.1653C>A (p.Arg551=) c.1182C>A (p.Arg394=) c.*16C>A (n.*16C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273569C>A | CA292012340 | MPO | n.799G>T c.591G>T (n.591G>T) n.506G>T c.1466G>T (p.Arg489Leu) c.1652G>T (p.Arg551Leu) c.1181G>T (p.Arg394Leu) c.*15G>T (n.*15G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.58273569C= | CA2267631323 | MPO | n.799G= c.591G= (n.591G=) n.506G= c.1466G= (p.Arg489=) c.1652G= (p.Arg551=) c.1181G= (p.Arg394=) c.*15G= (n.*15G=) | |
17 | g.58273569C>G | CA400370239 | MPO | n.799G>C c.591G>C (n.591G>C) n.506G>C c.1466G>C (p.Arg489Pro) c.1652G>C (p.Arg551Pro) c.1181G>C (p.Arg394Pro) c.*15G>C (n.*15G>C) | |
17 | g.58273569C>T | CA8670631 | MPO | n.799G>A c.591G>A (n.591G>A) n.506G>A c.1466G>A (p.Arg489His) c.1652G>A (p.Arg551His) c.1181G>A (p.Arg394His) c.*15G>A (n.*15G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.58273570G>A | CA8670632 | MPO | n.798C>T c.590C>T (n.590C>T) n.505C>T c.1465C>T (p.Arg489Cys) c.1651C>T (p.Arg551Cys) c.1180C>T (p.Arg394Cys) c.*14C>T (n.*14C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273570G>C | CA292012344 | MPO | n.798C>G c.590C>G (n.590C>G) n.505C>G c.1465C>G (p.Arg489Gly) c.1651C>G (p.Arg551Gly) c.1180C>G (p.Arg394Gly) c.*14C>G (n.*14C>G) | dbSNP gnomAD v4 |
17 | g.58273570G= | CA2267631324 | MPO | n.798C= c.590C= (n.590C=) n.505C= c.1465C= (p.Arg489=) c.1651C= (p.Arg551=) c.1180C= (p.Arg394=) c.*14C= (n.*14C=) | |
17 | g.58273570G>T | CA400370241 | MPO | n.798C>A c.590C>A (n.590C>A) n.505C>A c.1465C>A (p.Arg489Ser) c.1651C>A (p.Arg551Ser) c.1180C>A (p.Arg394Ser) c.*14C>A (n.*14C>A) | dbSNP |
17 | g.58273571_58273572del | CA2638968896 | MPO | n.797_798del c.589_590del (n.589_590del) n.504_505del c.1464_1465del (p.Arg489HisfsTer?) c.1650_1651del (p.Arg551HisfsTer?) c.1179_1180del (p.Arg394HisfsTer?) c.*13_*14del (n.*13_*14del) | gnomAD v4 |
17 | g.58273571T>A | CA501022932 | MPO | n.797A>T c.589A>T (n.589A>T) n.504A>T c.1464A>T (p.Pro488=) c.1650A>T (p.Pro550=) c.1179A>T (p.Pro393=) c.*13A>T (n.*13A>T) | |
17 | g.58273571T>C | CA501022934 | MPO | n.797A>G c.589A>G (n.589A>G) n.504A>G c.1464A>G (p.Pro488=) c.1650A>G (p.Pro550=) c.1179A>G (p.Pro393=) c.*13A>G (n.*13A>G) | gnomAD v4 |
17 | g.58273571T>G | CA501022935 | MPO | n.797A>C c.589A>C (n.589A>C) n.504A>C c.1464A>C (p.Pro488=) c.1650A>C (p.Pro550=) c.1179A>C (p.Pro393=) c.*13A>C (n.*13A>C) | |
17 | g.58273572G>A | CA400370244 | MPO | n.796C>T c.588C>T (n.588C>T) n.503C>T c.1463C>T (p.Pro488Leu) c.1649C>T (p.Pro550Leu) c.1178C>T (p.Pro393Leu) c.*12C>T (n.*12C>T) | |
17 | g.58273572G>C | CA400370246 | MPO | n.796C>G c.588C>G (n.588C>G) n.503C>G c.1463C>G (p.Pro488Arg) c.1649C>G (p.Pro550Arg) c.1178C>G (p.Pro393Arg) c.*12C>G (n.*12C>G) | |
17 | g.58273572G>T | CA400370247 | MPO | n.796C>A c.588C>A (n.588C>A) n.503C>A c.1463C>A (p.Pro488Gln) c.1649C>A (p.Pro550Gln) c.1178C>A (p.Pro393Gln) c.*12C>A (n.*12C>A) | |
17 | g.58273573G>A | CA400370249 | MPO | n.795C>T c.587C>T (n.587C>T) n.502C>T c.1462C>T (p.Pro488Ser) c.1648C>T (p.Pro550Ser) c.1177C>T (p.Pro393Ser) c.*11C>T (n.*11C>T) | |
17 | g.58273573G>C | CA400370250 | MPO | n.795C>G c.587C>G (n.587C>G) n.502C>G c.1462C>G (p.Pro488Ala) c.1648C>G (p.Pro550Ala) c.1177C>G (p.Pro393Ala) c.*11C>G (n.*11C>G) | |
17 | g.58273573G>T | CA400370252 | MPO | n.795C>A c.587C>A (n.587C>A) n.502C>A c.1462C>A (p.Pro488Thr) c.1648C>A (p.Pro550Thr) c.1177C>A (p.Pro393Thr) c.*11C>A (n.*11C>A) | |
17 | g.58273574G>A | CA501022944 | MPO | n.794C>T c.586C>T (n.586C>T) n.501C>T c.1461C>T (p.Asp487=) c.1647C>T (p.Asp549=) c.1176C>T (p.Asp392=) c.*10C>T (n.*10C>T) | |
17 | g.58273574G>C | CA400370254 | MPO | n.794C>G c.586C>G (n.586C>G) n.501C>G c.1461C>G (p.Asp487Glu) c.1647C>G (p.Asp549Glu) c.1176C>G (p.Asp392Glu) c.*10C>G (n.*10C>G) | |
17 | g.58273574G>T | CA400370255 | MPO | n.794C>A c.586C>A (n.586C>A) n.501C>A c.1461C>A (p.Asp487Glu) c.1647C>A (p.Asp549Glu) c.1176C>A (p.Asp392Glu) c.*10C>A (n.*10C>A) | |
17 | g.58273575T>A | CA400370257 | MPO | n.793A>T c.585A>T (n.585A>T) n.500A>T c.1460A>T (p.Asp487Val) c.1646A>T (p.Asp549Val) c.1175A>T (p.Asp392Val) c.*9A>T (n.*9A>T) | |
17 | g.58273575T>C | CA400370259 | MPO | n.793A>G c.585A>G (n.585A>G) n.500A>G c.1460A>G (p.Asp487Gly) c.1646A>G (p.Asp549Gly) c.1175A>G (p.Asp392Gly) c.*9A>G (n.*9A>G) | |
17 | g.58273575T>G | CA400370260 | MPO | n.793A>C c.585A>C (n.585A>C) n.500A>C c.1460A>C (p.Asp487Ala) c.1646A>C (p.Asp549Ala) c.1175A>C (p.Asp392Ala) c.*9A>C (n.*9A>C) | |
17 | g.58273576C>A | CA400370261 | MPO | n.792G>T c.584G>T (n.584G>T) n.499G>T c.1459G>T (p.Asp487Tyr) c.1645G>T (p.Asp549Tyr) c.1174G>T (p.Asp392Tyr) c.*8G>T (n.*8G>T) | |
17 | g.58273576C>G | CA400370263 | MPO | n.792G>C c.584G>C (n.584G>C) n.499G>C c.1459G>C (p.Asp487His) c.1645G>C (p.Asp549His) c.1174G>C (p.Asp392His) c.*8G>C (n.*8G>C) | |
17 | g.58273576C>T | CA400370265 | MPO | n.792G>A c.584G>A (n.584G>A) n.499G>A c.1459G>A (p.Asp487Asn) c.1645G>A (p.Asp549Asn) c.1174G>A (p.Asp392Asn) c.*8G>A (n.*8G>A) | |
17 | g.58273577C>A | CA501022950 | MPO | n.791G>T c.583G>T (n.583G>T) n.498G>T c.1458G>T (p.Val486=) c.1644G>T (p.Val548=) c.1173G>T (p.Val391=) c.*7G>T (n.*7G>T) | gnomAD v4 |
17 | g.58273577C= | CA2267631325 | MPO | n.791G= c.583G= (n.583G=) n.498G= c.1458G= (p.Val486=) c.1644G= (p.Val548=) c.1173G= (p.Val391=) c.*7G= (n.*7G=) | |
17 | g.58273577C>G | CA501022951 | MPO | n.791G>C c.583G>C (n.583G>C) n.498G>C c.1458G>C (p.Val486=) c.1644G>C (p.Val548=) c.1173G>C (p.Val391=) c.*7G>C (n.*7G>C) | |
17 | g.58273577C>T | CA8670633 | MPO | n.791G>A c.583G>A (n.583G>A) n.498G>A c.1458G>A (p.Val486=) c.1644G>A (p.Val548=) c.1173G>A (p.Val391=) c.*7G>A (n.*7G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273578A>C | CA400370270 | MPO | n.790T>G c.582T>G (n.582T>G) n.497T>G c.1457T>G (p.Val486Gly) c.1643T>G (p.Val548Gly) c.1172T>G (p.Val391Gly) c.*6T>G (n.*6T>G) | |
17 | g.58273578A>G | CA400370267 | MPO | n.790T>C c.582T>C (n.582T>C) n.497T>C c.1457T>C (p.Val486Ala) c.1643T>C (p.Val548Ala) c.1172T>C (p.Val391Ala) c.*6T>C (n.*6T>C) | |
17 | g.58273578A>T | CA400370269 | MPO | n.790T>A c.582T>A (n.582T>A) n.497T>A c.1457T>A (p.Val486Glu) c.1643T>A (p.Val548Glu) c.1172T>A (p.Val391Glu) c.*6T>A (n.*6T>A) | |
17 | g.58273579C>A | CA400370272 | MPO | n.789G>T c.581G>T (n.581G>T) n.496G>T c.1456G>T (p.Val486Leu) c.1642G>T (p.Val548Leu) c.1171G>T (p.Val391Leu) c.*5G>T (n.*5G>T) | |
17 | g.58273579C= | CA2267631326 | MPO | n.789G= c.581G= (n.581G=) n.496G= c.1456G= (p.Val486=) c.1642G= (p.Val548=) c.1171G= (p.Val391=) c.*5G= (n.*5G=) | |
17 | g.58273579C>G | CA400370274 | MPO | n.789G>C c.581G>C (n.581G>C) n.496G>C c.1456G>C (p.Val486Leu) c.1642G>C (p.Val548Leu) c.1171G>C (p.Val391Leu) c.*5G>C (n.*5G>C) | |
17 | g.58273579C>T | CA8670634 | MPO | n.789G>A c.581G>A (n.581G>A) n.496G>A c.1456G>A (p.Val486Met) c.1642G>A (p.Val548Met) c.1171G>A (p.Val391Met) c.*5G>A (n.*5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273580T>A | CA501022974 | MPO | n.788A>T c.580A>T (n.580A>T) n.495A>T c.1455A>T (p.Ser485=) c.1641A>T (p.Ser547=) c.1170A>T (p.Ser390=) c.*4A>T (n.*4A>T) | |
17 | g.58273580T>C | CA501022977 | MPO | n.788A>G c.580A>G (n.580A>G) n.495A>G c.1455A>G (p.Ser485=) c.1641A>G (p.Ser547=) c.1170A>G (p.Ser390=) c.*4A>G (n.*4A>G) | gnomAD v4 |
17 | g.58273580T>G | CA501022980 | MPO | n.788A>C c.580A>C (n.580A>C) n.495A>C c.1455A>C (p.Ser485=) c.1641A>C (p.Ser547=) c.1170A>C (p.Ser390=) c.*4A>C (n.*4A>C) | |
17 | g.58273581G>A | CA400370276 | MPO | n.787C>T c.579C>T (n.579C>T) n.494C>T c.1454C>T (p.Ser485Leu) c.1640C>T (p.Ser547Leu) c.1169C>T (p.Ser390Leu) c.*3C>T (n.*3C>T) | gnomAD v4 |
17 | g.58273581G>C | CA400370277 | MPO | n.787C>G c.579C>G (n.579C>G) n.494C>G c.1454C>G (p.Ser485Ter) c.1640C>G (p.Ser547Ter) c.1169C>G (p.Ser390Ter) c.*3C>G (n.*3C>G) | |
17 | g.58273581G>T | CA400370279 | MPO | n.787C>A c.579C>A (n.579C>A) n.494C>A c.1454C>A (p.Ser485Ter) c.1640C>A (p.Ser547Ter) c.1169C>A (p.Ser390Ter) c.*3C>A (n.*3C>A) | |
17 | g.58273582A= | CA2267631327 | MPO | n.786T= c.578T= (n.578T=) n.493T= c.1453T= (p.Ser485=) c.1639T= (p.Ser547=) c.1168T= (p.Ser390=) c.*2T= (n.*2T=) | |
17 | g.58273582A>C | CA400370280 | MPO | n.786T>G c.578T>G (n.578T>G) n.493T>G c.1453T>G (p.Ser485Ala) c.1639T>G (p.Ser547Ala) c.1168T>G (p.Ser390Ala) c.*2T>G (n.*2T>G) | |
17 | g.58273582A>G | CA400370284 | MPO | n.786T>C c.578T>C (n.578T>C) n.493T>C c.1453T>C (p.Ser485Pro) c.1639T>C (p.Ser547Pro) c.1168T>C (p.Ser390Pro) c.*2T>C (n.*2T>C) | |
17 | g.58273582A>T | CA400370282 | MPO | n.786T>A c.578T>A (n.578T>A) n.493T>A c.1453T>A (p.Ser485Thr) c.1639T>A (p.Ser547Thr) c.1168T>A (p.Ser390Thr) c.*2T>A (n.*2T>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.58273583G>A | CA501022991 | MPO | n.785C>T c.577C>T (n.577C>T) n.492C>T c.1452C>T (p.Asp484=) c.1638C>T (p.Asp546=) c.1167C>T (p.Asp389=) c.*1C>T (n.*1C>T) | gnomAD v4 |
17 | g.58273583G>C | CA400370286 | MPO | n.785C>G c.577C>G (n.577C>G) n.492C>G c.1452C>G (p.Asp484Glu) c.1638C>G (p.Asp546Glu) c.1167C>G (p.Asp389Glu) c.*1C>G (n.*1C>G) | |
17 | g.58273583G>T | CA400370287 | MPO | n.785C>A c.577C>A (n.577C>A) n.492C>A c.1452C>A (p.Asp484Glu) c.1638C>A (p.Asp546Glu) c.1167C>A (p.Asp389Glu) c.*1C>A (n.*1C>A) | |
17 | g.58273584T>A | CA400370289 | MPO | n.784A>T c.576A>T (p.Ter192Cys) n.491A>T c.1451A>T (p.Asp484Val) c.1637A>T (p.Asp546Val) c.1166A>T (p.Asp389Val) c.1476A>T (p.Ter492Cys) | |
17 | g.58273584T>C | CA400370290 | MPO | n.784A>G c.576A>G (p.Ter192Trp) n.491A>G c.1451A>G (p.Asp484Gly) c.1637A>G (p.Asp546Gly) c.1166A>G (p.Asp389Gly) c.1476A>G (p.Ter492Trp) | |
17 | g.58273584T>G | CA292012351 | MPO | n.784A>C c.576A>C (p.Ter192Cys) n.491A>C c.1451A>C (p.Asp484Ala) c.1637A>C (p.Asp546Ala) c.1166A>C (p.Asp389Ala) c.1476A>C (p.Ter492Cys) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.58273584T= | CA2267631328 | MPO | n.784A= c.576A= (p.Ter192=) n.491A= c.1451A= (p.Asp484=) c.1637A= (p.Asp546=) c.1166A= (p.Asp389=) c.1476A= (p.Ter492=) | |
17 | g.58273585C>A | CA400370293 | MPO | n.783G>T c.575G>T (p.Ter192Leu) n.490G>T c.1450G>T (p.Asp484Tyr) c.1636G>T (p.Asp546Tyr) c.1165G>T (p.Asp389Tyr) c.1475G>T (p.Ter492Leu) | |
17 | g.58273585C>G | CA400370296 | MPO | n.783G>C c.575G>C (p.Ter192Ser) n.490G>C c.1450G>C (p.Asp484His) c.1636G>C (p.Asp546His) c.1165G>C (p.Asp389His) c.1475G>C (p.Ter492Ser) | |
17 | g.58273585C>T | CA400370294 | MPO | n.783G>A c.575G>A (p.Ter192=) n.490G>A c.1450G>A (p.Asp484Asn) c.1636G>A (p.Asp546Asn) c.1165G>A (p.Asp389Asn) c.1475G>A (p.Ter492=) | |
17 | g.58273586A>C | CA400370297 | MPO | n.782T>G c.574T>G (p.Ter192Gly) n.489T>G c.1449T>G (p.Asn483Lys) c.1635T>G (p.Asn545Lys) c.1164T>G (p.Asn388Lys) c.1474T>G (p.Ter492Gly) | |
17 | g.58273586A>G | CA501023002 | MPO | n.782T>C c.574T>C (p.Ter192Arg) n.489T>C c.1449T>C (p.Asn483=) c.1635T>C (p.Asn545=) c.1164T>C (p.Asn388=) c.1474T>C (p.Ter492Arg) | |
17 | g.58273586A>T | CA400370299 | MPO | n.782T>A c.574T>A (p.Ter192Arg) n.489T>A c.1449T>A (p.Asn483Lys) c.1635T>A (p.Asn545Lys) c.1164T>A (p.Asn388Lys) c.1474T>A (p.Ter492Arg) | gnomAD v4 |
17 | g.58273587T>A | CA400370301 | MPO | n.781A>T c.573A>T (p.Gln191His) n.488A>T c.1448A>T (p.Asn483Ile) c.1634A>T (p.Asn545Ile) c.1163A>T (p.Asn388Ile) c.1473A>T (p.Gln491His) | |
17 | g.58273587T>C | CA8670635 | MPO | n.781A>G c.573A>G (p.Gln191=) n.488A>G c.1448A>G (p.Asn483Ser) c.1634A>G (p.Asn545Ser) c.1163A>G (p.Asn388Ser) c.1473A>G (p.Gln491=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273587T>G | CA400370303 | MPO | n.781A>C c.573A>C (p.Gln191His) n.488A>C c.1448A>C (p.Asn483Thr) c.1634A>C (p.Asn545Thr) c.1163A>C (p.Asn388Thr) c.1473A>C (p.Gln491His) | |
17 | g.58273587T= | CA2267631329 | MPO | n.781A= c.573A= (p.Gln191=) n.488A= c.1448A= (p.Asn483=) c.1634A= (p.Asn545=) c.1163A= (p.Asn388=) c.1473A= (p.Gln491=) | |
17 | g.58273588T>A | CA400370305 | MPO | n.780A>T c.572A>T (p.Gln191Leu) n.487A>T c.1447A>T (p.Asn483Tyr) c.1633A>T (p.Asn545Tyr) c.1162A>T (p.Asn388Tyr) c.1472A>T (p.Gln491Leu) | |
17 | g.58273588T>C | CA400370306 | MPO | n.780A>G c.572A>G (p.Gln191Arg) n.487A>G c.1447A>G (p.Asn483Asp) c.1633A>G (p.Asn545Asp) c.1162A>G (p.Asn388Asp) c.1472A>G (p.Gln491Arg) | dbSNP |
17 | g.58273588T>G | CA400370308 | MPO | n.780A>C c.572A>C (p.Gln191Pro) n.487A>C c.1447A>C (p.Asn483His) c.1633A>C (p.Asn545His) c.1162A>C (p.Asn388His) c.1472A>C (p.Gln491Pro) | |
17 | g.58273588T= | CA2267631330 | MPO | n.780A= c.572A= (p.Gln191=) n.487A= c.1447A= (p.Asn483=) c.1633A= (p.Asn545=) c.1162A= (p.Asn388=) c.1472A= (p.Gln491=) | |
17 | g.58273589G>A | CA501023007 | MPO | n.779C>T c.571C>T (p.Gln191Ter) n.486C>T c.1446C>T (p.Tyr482=) c.1632C>T (p.Tyr544=) c.1161C>T (p.Tyr387=) c.1471C>T (p.Gln491Ter) | |
17 | g.58273589G>C | CA400370309 | MPO | n.779C>G c.571C>G (p.Gln191Glu) n.486C>G c.1446C>G (p.Tyr482Ter) c.1632C>G (p.Tyr544Ter) c.1161C>G (p.Tyr387Ter) c.1471C>G (p.Gln491Glu) | |
17 | g.58273589G>T | CA400370311 | MPO | n.779C>A c.571C>A (p.Gln191Lys) n.486C>A c.1446C>A (p.Tyr482Ter) c.1632C>A (p.Tyr544Ter) c.1161C>A (p.Tyr387Ter) c.1471C>A (p.Gln491Lys) | gnomAD v4 |
17 | g.58273590T>A | CA400370313 | MPO | n.778A>T c.570A>T (p.Leu190=) n.485A>T c.1445A>T (p.Tyr482Phe) c.1631A>T (p.Tyr544Phe) c.1160A>T (p.Tyr387Phe) c.1470A>T (p.Leu490=) | |
17 | g.58273590T>C | CA400370315 | MPO | n.778A>G c.570A>G (p.Leu190=) n.485A>G c.1445A>G (p.Tyr482Cys) c.1631A>G (p.Tyr544Cys) c.1160A>G (p.Tyr387Cys) c.1470A>G (p.Leu490=) | gnomAD v4 |
17 | g.58273590T>G | CA400370316 | MPO | n.778A>C c.570A>C (p.Leu190=) n.485A>C c.1445A>C (p.Tyr482Ser) c.1631A>C (p.Tyr544Ser) c.1160A>C (p.Tyr387Ser) c.1470A>C (p.Leu490=) | |
17 | g.58273591A= | CA2267631331 | MPO | n.777T= c.569T= (p.Leu190=) n.484T= c.1444T= (p.Tyr482=) c.1630T= (p.Tyr544=) c.1159T= (p.Tyr387=) c.1469T= (p.Leu490=) | |
17 | g.58273591A>C | CA400370318 | MPO | n.777T>G c.569T>G (p.Leu190Arg) n.484T>G c.1444T>G (p.Tyr482Asp) c.1630T>G (p.Tyr544Asp) c.1159T>G (p.Tyr387Asp) c.1469T>G (p.Leu490Arg) | |
17 | g.58273591A>G | CA8670636 | MPO | n.777T>C c.569T>C (p.Leu190Pro) n.484T>C c.1444T>C (p.Tyr482His) c.1630T>C (p.Tyr544His) c.1159T>C (p.Tyr387His) c.1469T>C (p.Leu490Pro) | dbSNP ExAC gnomAD v2 |
17 | g.58273591A>T | CA400370319 | MPO | n.777T>A c.569T>A (p.Leu190Gln) n.484T>A c.1444T>A (p.Tyr482Asn) c.1630T>A (p.Tyr544Asn) c.1159T>A (p.Tyr387Asn) c.1469T>A (p.Leu490Gln) | |
17 | g.58273592G>A | CA501023024 | MPO | n.776C>T c.568C>T (p.Leu190=) n.483C>T c.1443C>T (p.Ser481=) c.1629C>T (p.Ser543=) c.1158C>T (p.Ser386=) c.1468C>T (p.Leu490=) | gnomAD v4 |
17 | g.58273592G>C | CA501023025 | MPO | n.776C>G c.568C>G (p.Leu190Val) n.483C>G c.1443C>G (p.Ser481=) c.1629C>G (p.Ser543=) c.1158C>G (p.Ser386=) c.1468C>G (p.Leu490Val) | gnomAD v4 |
17 | g.58273592G>T | CA501023028 | MPO | n.776C>A c.568C>A (p.Leu190Ile) n.483C>A c.1443C>A (p.Ser481=) c.1629C>A (p.Ser543=) c.1158C>A (p.Ser386=) c.1468C>A (p.Leu490Ile) | |
17 | g.58273593G>A | CA400370321 | MPO | n.775C>T c.567C>T (p.Phe189=) n.482C>T c.1442C>T (p.Ser481Phe) c.1628C>T (p.Ser543Phe) c.1157C>T (p.Ser386Phe) c.1467C>T (p.Phe489=) | |
17 | g.58273593G>C | CA400370323 | MPO | n.775C>G c.567C>G (p.Phe189Leu) n.482C>G c.1442C>G (p.Ser481Cys) c.1628C>G (p.Ser543Cys) c.1157C>G (p.Ser386Cys) c.1467C>G (p.Phe489Leu) | COSMIC COSMIC |
17 | g.58273593G>T | CA400370324 | MPO | n.775C>A c.567C>A (p.Phe189Leu) n.482C>A c.1442C>A (p.Ser481Tyr) c.1628C>A (p.Ser543Tyr) c.1157C>A (p.Ser386Tyr) c.1467C>A (p.Phe489Leu) | |
17 | g.58273594A= | CA2267631332 | MPO | n.774T= c.566T= (p.Phe189=) n.481T= c.1441T= (p.Ser481=) c.1627T= (p.Ser543=) c.1156T= (p.Ser386=) c.1466T= (p.Phe489=) | |
17 | g.58273594A>C | CA400370326 | MPO | n.774T>G c.566T>G (p.Phe189Cys) n.481T>G c.1441T>G (p.Ser481Ala) c.1627T>G (p.Ser543Ala) c.1156T>G (p.Ser386Ala) c.1466T>G (p.Phe489Cys) | gnomAD v4 |
17 | g.58273594A>G | CA400370328 | MPO | n.774T>C c.566T>C (p.Phe189Ser) n.481T>C c.1441T>C (p.Ser481Pro) c.1627T>C (p.Ser543Pro) c.1156T>C (p.Ser386Pro) c.1466T>C (p.Phe489Ser) | |
17 | g.58273594A>T | CA400370329 | MPO | n.774T>A c.566T>A (p.Phe189Tyr) n.481T>A c.1441T>A (p.Ser481Thr) c.1627T>A (p.Ser543Thr) c.1156T>A (p.Ser386Thr) c.1466T>A (p.Phe489Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273595A>C | CA501023040 | MPO | n.773T>G c.565T>G (p.Phe189Val) n.480T>G c.1440T>G (p.Arg480=) c.1626T>G (p.Arg542=) c.1155T>G (p.Arg385=) c.1465T>G (p.Phe489Val) | |
17 | g.58273595A>G | CA501023042 | MPO | n.773T>C c.565T>C (p.Phe189Leu) n.480T>C c.1440T>C (p.Arg480=) c.1626T>C (p.Arg542=) c.1155T>C (p.Arg385=) c.1465T>C (p.Phe489Leu) | |
17 | g.58273595A>T | CA501023053 | MPO | n.773T>A c.565T>A (p.Phe189Ile) n.480T>A c.1440T>A (p.Arg480=) c.1626T>A (p.Arg542=) c.1155T>A (p.Arg385=) c.1465T>A (p.Phe489Ile) | |
17 | g.58273596C>A | CA400370333 | MPO | n.772G>T c.564G>T (p.Pro188=) n.479G>T c.1439G>T (p.Arg480Leu) c.1625G>T (p.Arg542Leu) c.1154G>T (p.Arg385Leu) c.1464G>T (p.Pro488=) | |
17 | g.58273596C= | CA2267631333 | MPO | n.772G= c.564G= (p.Pro188=) n.479G= c.1439G= (p.Arg480=) c.1625G= (p.Arg542=) c.1154G= (p.Arg385=) c.1464G= (p.Pro488=) | |
17 | g.58273596C>G | CA400370331 | MPO | n.772G>C c.564G>C (p.Pro188=) n.479G>C c.1439G>C (p.Arg480Pro) c.1625G>C (p.Arg542Pro) c.1154G>C (p.Arg385Pro) c.1464G>C (p.Pro488=) | |
17 | g.58273596C>T | CA8670637 | MPO | n.772G>A c.564G>A (p.Pro188=) n.479G>A c.1439G>A (p.Arg480His) c.1625G>A (p.Arg542His) c.1154G>A (p.Arg385His) c.1464G>A (p.Pro488=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273597G>A | CA8670638 | MPO | n.771C>T c.563C>T (p.Pro188Leu) n.478C>T c.1438C>T (p.Arg480Cys) c.1624C>T (p.Arg542Cys) c.1153C>T (p.Arg385Cys) c.1463C>T (p.Pro488Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273597G>C | CA400370335 | MPO | n.771C>G c.563C>G (p.Pro188Arg) n.478C>G c.1438C>G (p.Arg480Gly) c.1624C>G (p.Arg542Gly) c.1153C>G (p.Arg385Gly) c.1463C>G (p.Pro488Arg) | |
17 | g.58273597G= | CA2267631334 | MPO | n.771C= c.563C= (p.Pro188=) n.478C= c.1438C= (p.Arg480=) c.1624C= (p.Arg542=) c.1153C= (p.Arg385=) c.1463C= (p.Pro488=) | |
17 | g.58273597G>T | CA400370337 | MPO | n.771C>A c.563C>A (p.Pro188Gln) n.478C>A c.1438C>A (p.Arg480Ser) c.1624C>A (p.Arg542Ser) c.1153C>A (p.Arg385Ser) c.1463C>A (p.Pro488Gln) | gnomAD v4 |
17 | g.58273598G>A | CA501023064 | MPO | n.770C>T c.562C>T (p.Pro188Ser) n.477C>T c.1437C>T (p.Tyr479=) c.1623C>T (p.Tyr541=) c.1152C>T (p.Tyr384=) c.1462C>T (p.Pro488Ser) | |
17 | g.58273598G>C | CA400370338 | MPO | n.770C>G c.562C>G (p.Pro188Ala) n.477C>G c.1437C>G (p.Tyr479Ter) c.1623C>G (p.Tyr541Ter) c.1152C>G (p.Tyr384Ter) c.1462C>G (p.Pro488Ala) | |
17 | g.58273598G>T | CA400370339 | MPO | n.770C>A c.562C>A (p.Pro188Thr) n.477C>A c.1437C>A (p.Tyr479Ter) c.1623C>A (p.Tyr541Ter) c.1152C>A (p.Tyr384Ter) c.1462C>A (p.Pro488Thr) | |
17 | g.58273599T>A | CA400370341 | MPO | n.769A>T c.561A>T (p.Val187=) n.476A>T c.1436A>T (p.Tyr479Phe) c.1622A>T (p.Tyr541Phe) c.1151A>T (p.Tyr384Phe) c.1461A>T (p.Val487=) | |
17 | g.58273599T>C | CA400370343 | MPO | n.769A>G c.561A>G (p.Val187=) n.476A>G c.1436A>G (p.Tyr479Cys) c.1622A>G (p.Tyr541Cys) c.1151A>G (p.Tyr384Cys) c.1461A>G (p.Val487=) | |
17 | g.58273599T>G | CA400370342 | MPO | n.769A>C c.561A>C (p.Val187=) n.476A>C c.1436A>C (p.Tyr479Ser) c.1622A>C (p.Tyr541Ser) c.1151A>C (p.Tyr384Ser) c.1461A>C (p.Val487=) | |
17 | g.58273600A>C | CA400370344 | MPO | n.768T>G c.560T>G (p.Val187Gly) n.475T>G c.1435T>G (p.Tyr479Asp) c.1621T>G (p.Tyr541Asp) c.1150T>G (p.Tyr384Asp) c.1460T>G (p.Val487Gly) | |
17 | g.58273600A>G | CA400370346 | MPO | n.768T>C c.560T>C (p.Val187Ala) n.475T>C c.1435T>C (p.Tyr479His) c.1621T>C (p.Tyr541His) c.1150T>C (p.Tyr384His) c.1460T>C (p.Val487Ala) | |
17 | g.58273600A>T | CA400370348 | MPO | n.768T>A c.560T>A (p.Val187Glu) n.475T>A c.1435T>A (p.Tyr479Asn) c.1621T>A (p.Tyr541Asn) c.1150T>A (p.Tyr384Asn) c.1460T>A (p.Val487Glu) | gnomAD v4 |
17 | g.58273601C>A | CA501023080 | MPO | n.767G>T c.559G>T (p.Val187Leu) n.474G>T c.1434G>T (p.Thr478=) c.1620G>T (p.Thr540=) c.1149G>T (p.Thr383=) c.1459G>T (p.Val487Leu) | |
17 | g.58273601C= | CA2267631335 | MPO | n.767G= c.559G= (p.Val187=) n.474G= c.1434G= (p.Thr478=) c.1620G= (p.Thr540=) c.1149G= (p.Thr383=) c.1459G= (p.Val487=) | |
17 | g.58273601C>G | CA8670640 | MPO | n.767G>C c.559G>C (p.Val187Leu) n.474G>C c.1434G>C (p.Thr478=) c.1620G>C (p.Thr540=) c.1149G>C (p.Thr383=) c.1459G>C (p.Val487Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273601C>T | CA8670639 | MPO | n.767G>A c.559G>A (p.Val187Ile) n.474G>A c.1434G>A (p.Thr478=) c.1620G>A (p.Thr540=) c.1149G>A (p.Thr383=) c.1459G>A (p.Val487Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273602G>A | CA8670641 | MPO | n.766C>T c.558C>T (p.His186=) n.473C>T c.1433C>T (p.Thr478Met) c.1619C>T (p.Thr540Met) c.1148C>T (p.Thr383Met) c.1458C>T (p.His486=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.58273602G>C | CA400370351 | MPO | n.766C>G c.558C>G (p.His186Gln) n.473C>G c.1433C>G (p.Thr478Arg) c.1619C>G (p.Thr540Arg) c.1148C>G (p.Thr383Arg) c.1458C>G (p.His486Gln) | |
17 | g.58273602G= | CA2267631336 | MPO | n.766C= c.558C= (p.His186=) n.473C= c.1433C= (p.Thr478=) c.1619C= (p.Thr540=) c.1148C= (p.Thr383=) c.1458C= (p.His486=) | |
17 | g.58273602G>T | CA400370352 | MPO | n.766C>A c.558C>A (p.His186Gln) n.473C>A c.1433C>A (p.Thr478Lys) c.1619C>A (p.Thr540Lys) c.1148C>A (p.Thr383Lys) c.1458C>A (p.His486Gln) | |
17 | g.58273603T>A | CA400370354 | MPO | n.765A>T c.557A>T (p.His186Leu) n.472A>T c.1432A>T (p.Thr478Ser) c.1618A>T (p.Thr540Ser) c.1147A>T (p.Thr383Ser) c.1457A>T (p.His486Leu) | COSMIC COSMIC |
17 | g.58273603T>C | CA400370356 | MPO | n.765A>G c.557A>G (p.His186Arg) n.472A>G c.1432A>G (p.Thr478Ala) c.1618A>G (p.Thr540Ala) c.1147A>G (p.Thr383Ala) c.1457A>G (p.His486Arg) | gnomAD v4 |
17 | g.58273603T>G | CA400370358 | MPO | n.765A>C c.557A>C (p.His186Pro) n.472A>C c.1432A>C (p.Thr478Pro) c.1618A>C (p.Thr540Pro) c.1147A>C (p.Thr383Pro) c.1457A>C (p.His486Pro) | |
17 | g.58273604G>A | CA501023086 | MPO | n.764C>T c.556C>T (p.His186Tyr) n.471C>T c.1431C>T (p.Pro477=) c.1617C>T (p.Pro539=) c.1146C>T (p.Pro382=) c.1456C>T (p.His486Tyr) | dbSNP |
17 | g.58273604G>C | CA501023087 | MPO | n.764C>G c.556C>G (p.His186Asp) n.471C>G c.1431C>G (p.Pro477=) c.1617C>G (p.Pro539=) c.1146C>G (p.Pro382=) c.1456C>G (p.His486Asp) | |
17 | g.58273604G= | CA2267631337 | MPO | n.764C= c.556C= (p.His186=) n.471C= c.1431C= (p.Pro477=) c.1617C= (p.Pro539=) c.1146C= (p.Pro382=) c.1456C= (p.His486=) | |
17 | g.58273604G>T | CA501023089 | MPO | n.764C>A c.556C>A (p.His186Asn) n.471C>A c.1431C>A (p.Pro477=) c.1617C>A (p.Pro539=) c.1146C>A (p.Pro382=) c.1456C>A (p.His486Asn) | |
17 | g.58273605G>A | CA400370359 | MPO | n.763C>T c.555C>T (p.Ala185=) n.470C>T c.1430C>T (p.Pro477Leu) c.1616C>T (p.Pro539Leu) c.1145C>T (p.Pro382Leu) c.1455C>T (p.Ala485=) | |
17 | g.58273605G>C | CA400370363 | MPO | n.763C>G c.555C>G (p.Ala185=) n.470C>G c.1430C>G (p.Pro477Arg) c.1616C>G (p.Pro539Arg) c.1145C>G (p.Pro382Arg) c.1455C>G (p.Ala485=) | |
17 | g.58273605G>T | CA400370361 | MPO | n.763C>A c.555C>A (p.Ala185=) n.470C>A c.1430C>A (p.Pro477His) c.1616C>A (p.Pro539His) c.1145C>A (p.Pro382His) c.1455C>A (p.Ala485=) | |
17 | g.58273606G>A | CA400370365 | MPO | n.762C>T c.554C>T (p.Ala185Val) n.469C>T c.1429C>T (p.Pro477Ser) c.1615C>T (p.Pro539Ser) c.1144C>T (p.Pro382Ser) c.1454C>T (p.Ala485Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.58273606G>C | CA400370367 | MPO | n.762C>G c.554C>G (p.Ala185Gly) n.469C>G c.1429C>G (p.Pro477Ala) c.1615C>G (p.Pro539Ala) c.1144C>G (p.Pro382Ala) c.1454C>G (p.Ala485Gly) | |
17 | g.58273606G= | CA2267631338 | MPO | n.762C= c.554C= (p.Ala185=) n.469C= c.1429C= (p.Pro477=) c.1615C= (p.Pro539=) c.1144C= (p.Pro382=) c.1454C= (p.Ala485=) | |
17 | g.58273606G>T | CA400370366 | MPO | n.762C>A c.554C>A (p.Ala185Asp) n.469C>A c.1429C>A (p.Pro477Thr) c.1615C>A (p.Pro539Thr) c.1144C>A (p.Pro382Thr) c.1454C>A (p.Ala485Asp) | |
17 | g.58273607C>A | CA501023093 | MPO | n.761G>T c.553G>T (p.Ala185Ser) n.468G>T c.1428G>T (p.Leu476=) c.1614G>T (p.Leu538=) c.1143G>T (p.Leu381=) c.1453G>T (p.Ala485Ser) | |
17 | g.58273607C>G | CA501023096 | MPO | n.761G>C c.553G>C (p.Ala185Pro) n.468G>C c.1428G>C (p.Leu476=) c.1614G>C (p.Leu538=) c.1143G>C (p.Leu381=) c.1453G>C (p.Ala485Pro) | |
17 | g.58273607C>T | CA501023100 | MPO | n.761G>A c.553G>A (p.Ala185Thr) n.468G>A c.1428G>A (p.Leu476=) c.1614G>A (p.Leu538=) c.1143G>A (p.Leu381=) c.1453G>A (p.Ala485Thr) | gnomAD v4 |
17 | g.58273608A>C | CA400370369 | MPO | n.760T>G c.552T>G (p.Pro184=) n.467T>G c.1427T>G (p.Leu476Arg) c.1613T>G (p.Leu538Arg) c.1142T>G (p.Leu381Arg) c.1452T>G (p.Pro484=) | |
17 | g.58273608A>G | CA400370371 | MPO | n.760T>C c.552T>C (p.Pro184=) n.467T>C c.1427T>C (p.Leu476Pro) c.1613T>C (p.Leu538Pro) c.1142T>C (p.Leu381Pro) c.1452T>C (p.Pro484=) | gnomAD v4 |
17 | g.58273608A>T | CA400370372 | MPO | n.760T>A c.552T>A (p.Pro184=) n.467T>A c.1427T>A (p.Leu476Gln) c.1613T>A (p.Leu538Gln) c.1142T>A (p.Leu381Gln) c.1452T>A (p.Pro484=) | |
17 | g.58273609G>A | CA501023110 | MPO | n.759C>T c.551C>T (p.Pro184Leu) n.466C>T c.1426C>T (p.Leu476=) c.1612C>T (p.Leu538=) c.1141C>T (p.Leu381=) c.1451C>T (p.Pro484Leu) | gnomAD v4 |
17 | g.58273609G>C | CA400370373 | MPO | n.759C>G c.551C>G (p.Pro184Arg) n.466C>G c.1426C>G (p.Leu476Val) c.1612C>G (p.Leu538Val) c.1141C>G (p.Leu381Val) c.1451C>G (p.Pro484Arg) | |
17 | g.58273609G>T | CA400370375 | MPO | n.759C>A c.551C>A (p.Pro184His) n.466C>A c.1426C>A (p.Leu476Met) c.1612C>A (p.Leu538Met) c.1141C>A (p.Leu381Met) c.1451C>A (p.Pro484His) | |
17 | g.58273610G>A | CA501023117 | MPO | n.758C>T c.550C>T (p.Pro184Ser) n.465C>T c.1425C>T (p.Tyr475=) c.1611C>T (p.Tyr537=) c.1140C>T (p.Tyr380=) c.1450C>T (p.Pro484Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.58273610G>C | CA400370377 | MPO | n.758C>G c.550C>G (p.Pro184Ala) n.465C>G c.1425C>G (p.Tyr475Ter) c.1611C>G (p.Tyr537Ter) c.1140C>G (p.Tyr380Ter) c.1450C>G (p.Pro484Ala) | |
17 | g.58273610G= | CA2267631339 | MPO | n.758C= c.550C= (p.Pro184=) n.465C= c.1425C= (p.Tyr475=) c.1611C= (p.Tyr537=) c.1140C= (p.Tyr380=) c.1450C= (p.Pro484=) | |
17 | g.58273610G>T | CA400370378 | MPO | n.758C>A c.550C>A (p.Pro184Thr) n.465C>A c.1425C>A (p.Tyr475Ter) c.1611C>A (p.Tyr537Ter) c.1140C>A (p.Tyr380Ter) c.1450C>A (p.Pro484Thr) |