| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.58273444dup | CA2638971703 | MPO | n.929dup c.721dup (n.721dup) n.636dup c.1596dup (p.Ala533CysfsTer12) c.54dup (p.Ala19CysfsTer12) c.1782dup (p.Ala595CysfsTer12) c.1311dup (p.Ala438CysfsTer12) c.*145dup (n.*145dup) | gnomAD v4 |
| 17 | g.58273444del | CA627143468 | MPO | n.929del c.721del (n.721del) n.636del c.1596del (p.Phe532LeufsTer26) c.54del (p.Phe18LeufsTer26) c.1782del (p.Phe594LeufsTer26) c.1311del (p.Phe437LeufsTer26) c.*145del (n.*145del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.58273443A>C | CA400369722 | MPO | n.925T>G c.717T>G (n.717T>G) n.632T>G c.1592T>G (p.Phe531Cys) c.50T>G (p.Phe17Cys) c.1778T>G (p.Phe593Cys) c.1307T>G (p.Phe436Cys) c.*141T>G (n.*141T>G) | |
| 17 | g.58273443A>G | CA400369723 | MPO | n.925T>C c.717T>C (n.717T>C) n.632T>C c.1592T>C (p.Phe531Ser) c.50T>C (p.Phe17Ser) c.1778T>C (p.Phe593Ser) c.1307T>C (p.Phe436Ser) c.*141T>C (n.*141T>C) | |
| 17 | g.58273443A>T | CA400369725 | MPO | n.925T>A c.717T>A (n.717T>A) n.632T>A c.1592T>A (p.Phe531Tyr) c.50T>A (p.Phe17Tyr) c.1778T>A (p.Phe593Tyr) c.1307T>A (p.Phe436Tyr) c.*141T>A (n.*141T>A) | |
| 17 | g.58273444A= | CA2267631249 | MPO | n.924T= c.716T= (n.716T=) n.631T= c.1591T= (p.Phe531=) c.49T= (p.Phe17=) c.1777T= (p.Phe593=) c.1306T= (p.Phe436=) c.*140T= (n.*140T=) | |
| 17 | g.58273444A>C | CA400369727 | MPO | n.924T>G c.716T>G (n.716T>G) n.631T>G c.1591T>G (p.Phe531Val) c.49T>G (p.Phe17Val) c.1777T>G (p.Phe593Val) c.1306T>G (p.Phe436Val) c.*140T>G (n.*140T>G) | |
| 17 | g.58273444A>G | CA400369729 | MPO | n.924T>C c.716T>C (n.716T>C) n.631T>C c.1591T>C (p.Phe531Leu) c.49T>C (p.Phe17Leu) c.1777T>C (p.Phe593Leu) c.1306T>C (p.Phe436Leu) c.*140T>C (n.*140T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.58273444A>T | CA400369731 | MPO | n.924T>A c.716T>A (n.716T>A) n.631T>A c.1591T>A (p.Phe531Ile) c.49T>A (p.Phe17Ile) c.1777T>A (p.Phe593Ile) c.1306T>A (p.Phe436Ile) c.*140T>A (n.*140T>A) | |
| 17 | g.58273445G>A | CA501022204 | MPO | n.923C>T c.715C>T (n.715C>T) n.630C>T c.1590C>T (p.Val530=) c.48C>T (p.Val16=) c.1776C>T (p.Val592=) c.1305C>T (p.Val435=) c.*139C>T (n.*139C>T) | |
| 17 | g.58273445G>C | CA501022206 | MPO | n.923C>G c.715C>G (n.715C>G) n.630C>G c.1590C>G (p.Val530=) c.48C>G (p.Val16=) c.1776C>G (p.Val592=) c.1305C>G (p.Val435=) c.*139C>G (n.*139C>G) | |
| 17 | g.58273445G>T | CA501022208 | MPO | n.923C>A c.715C>A (n.715C>A) n.630C>A c.1590C>A (p.Val530=) c.48C>A (p.Val16=) c.1776C>A (p.Val592=) c.1305C>A (p.Val435=) c.*139C>A (n.*139C>A) | gnomAD v4 COSMIC COSMIC |
| 17 | g.58273446A>C | CA400369733 | MPO | n.922T>G c.714T>G (n.714T>G) n.629T>G c.1589T>G (p.Val530Gly) c.47T>G (p.Val16Gly) c.1775T>G (p.Val592Gly) c.1304T>G (p.Val435Gly) c.*138T>G (n.*138T>G) | |
| 17 | g.58273446A>G | CA400369735 | MPO | n.922T>C c.714T>C (n.714T>C) n.629T>C c.1589T>C (p.Val530Ala) c.47T>C (p.Val16Ala) c.1775T>C (p.Val592Ala) c.1304T>C (p.Val435Ala) c.*138T>C (n.*138T>C) | gnomAD v4 |
| 17 | g.58273446A>T | CA400369738 | MPO | n.922T>A c.714T>A (n.714T>A) n.629T>A c.1589T>A (p.Val530Asp) c.47T>A (p.Val16Asp) c.1775T>A (p.Val592Asp) c.1304T>A (p.Val435Asp) c.*138T>A (n.*138T>A) | gnomAD v4 |
| 17 | g.58273446_58273447delinsAC | CA2267631250 | MPO | n.921_922delinsGT c.713_714delinsGT (n.713_714delinsGT) n.628_629delinsGT c.1588_1589delinsGT (p.Val530=) c.46_47delinsGT (p.Val16=) c.1774_1775delinsGT (p.Val592=) c.1303_1304delinsGT (p.Val435=) c.*137_*138delinsGT (n.*137_*138delinsGT) | |
| 17 | g.58273447C>A | CA400369743 | MPO | n.921G>T c.713G>T (n.713G>T) n.628G>T c.1588G>T (p.Val530Phe) c.46G>T (p.Val16Phe) c.1774G>T (p.Val592Phe) c.1303G>T (p.Val435Phe) c.*137G>T (n.*137G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58273447C= | CA2267631252 | MPO | n.921G= c.713G= (n.713G=) n.628G= c.1588G= (p.Val530=) c.46G= (p.Val16=) c.1774G= (p.Val592=) c.1303G= (p.Val435=) c.*137G= (n.*137G=) | |
| 17 | g.58273447C>G | CA400369742 | MPO | n.921G>C c.713G>C (n.713G>C) n.628G>C c.1588G>C (p.Val530Leu) c.46G>C (p.Val16Leu) c.1774G>C (p.Val592Leu) c.1303G>C (p.Val435Leu) c.*137G>C (n.*137G>C) | |
| 17 | g.58273447C>T | CA400369740 | MPO | n.921G>A c.713G>A (n.713G>A) n.628G>A c.1588G>A (p.Val530Ile) c.46G>A (p.Val16Ile) c.1774G>A (p.Val592Ile) c.1303G>A (p.Val435Ile) c.*137G>A (n.*137G>A) | |
| 17 | g.58273449del | CA2267631251 | MPO | n.921del c.713del (n.713del) n.628del c.1588del (p.Val530SerfsTer28) c.46del (p.Val16SerfsTer28) c.1774del (p.Val592SerfsTer28) c.1303del (p.Val435SerfsTer28) c.*137del (n.*137del) | dbSNP |
| 17 | g.58273448C>A | CA400369745 | MPO | n.920G>T c.712G>T (n.712G>T) n.627G>T c.1587G>T (p.Arg529Ser) c.45G>T (p.Arg15Ser) c.1773G>T (p.Arg591Ser) c.1302G>T (p.Arg434Ser) c.*136G>T (n.*136G>T) | |
| 17 | g.58273448C= | CA2267631253 | MPO | n.920G= c.712G= (n.712G=) n.627G= c.1587G= (p.Arg529=) c.45G= (p.Arg15=) c.1773G= (p.Arg591=) c.1302G= (p.Arg434=) c.*136G= (n.*136G=) | |
| 17 | g.58273448C>G | CA400369747 | MPO | n.920G>C c.712G>C (n.712G>C) n.627G>C c.1587G>C (p.Arg529Ser) c.45G>C (p.Arg15Ser) c.1773G>C (p.Arg591Ser) c.1302G>C (p.Arg434Ser) c.*136G>C (n.*136G>C) | |
| 17 | g.58273448C>T | CA501022224 | MPO | n.920G>A c.712G>A (n.712G>A) n.627G>A c.1587G>A (p.Arg529=) c.45G>A (p.Arg15=) c.1773G>A (p.Arg591=) c.1302G>A (p.Arg434=) c.*136G>A (n.*136G>A) | dbSNP |
| 17 | g.58273449C>A | CA400369750 | MPO | n.919G>T c.711G>T (n.711G>T) n.626G>T c.1586G>T (p.Arg529Met) c.44G>T (p.Arg15Met) c.1772G>T (p.Arg591Met) c.1301G>T (p.Arg434Met) c.*135G>T (n.*135G>T) | gnomAD v4 |
| 17 | g.58273449C>G | CA400369751 | MPO | n.919G>C c.711G>C (n.711G>C) n.626G>C c.1586G>C (p.Arg529Thr) c.44G>C (p.Arg15Thr) c.1772G>C (p.Arg591Thr) c.1301G>C (p.Arg434Thr) c.*135G>C (n.*135G>C) | |
| 17 | g.58273449C>T | CA400369753 | MPO | n.919G>A c.711G>A (n.711G>A) n.626G>A c.1586G>A (p.Arg529Lys) c.44G>A (p.Arg15Lys) c.1772G>A (p.Arg591Lys) c.1301G>A (p.Arg434Lys) c.*135G>A (n.*135G>A) | gnomAD v4 |
| 17 | g.58273450T>A | CA400369755 | MPO | n.918A>T c.710A>T (n.710A>T) n.625A>T c.1585A>T (p.Arg529Trp) c.43A>T (p.Arg15Trp) c.1771A>T (p.Arg591Trp) c.1300A>T (p.Arg434Trp) c.*134A>T (n.*134A>T) | |
| 17 | g.58273450T>C | CA400369757 | MPO | n.918A>G c.710A>G (n.710A>G) n.625A>G c.1585A>G (p.Arg529Gly) c.43A>G (p.Arg15Gly) c.1771A>G (p.Arg591Gly) c.1300A>G (p.Arg434Gly) c.*134A>G (n.*134A>G) | |
| 17 | g.58273450T>G | CA501022234 | MPO | n.918A>C c.710A>C (n.710A>C) n.625A>C c.1585A>C (p.Arg529=) c.43A>C (p.Arg15=) c.1771A>C (p.Arg591=) c.1300A>C (p.Arg434=) c.*134A>C (n.*134A>C) | |
| 17 | g.58273451G>A | CA501022237 | MPO | n.917C>T c.709C>T (n.709C>T) n.624C>T c.1584C>T (p.Ser528=) c.42C>T (p.Ser14=) c.1770C>T (p.Ser590=) c.1299C>T (p.Ser433=) c.*133C>T (n.*133C>T) | |
| 17 | g.58273451G>C | CA400369759 | MPO | n.917C>G c.709C>G (n.709C>G) n.624C>G c.1584C>G (p.Ser528Arg) c.42C>G (p.Ser14Arg) c.1770C>G (p.Ser590Arg) c.1299C>G (p.Ser433Arg) c.*133C>G (n.*133C>G) | |
| 17 | g.58273451G>T | CA400369761 | MPO | n.917C>A c.709C>A (n.709C>A) n.624C>A c.1584C>A (p.Ser528Arg) c.42C>A (p.Ser14Arg) c.1770C>A (p.Ser590Arg) c.1299C>A (p.Ser433Arg) c.*133C>A (n.*133C>A) | |
| 17 | g.58273452C>A | CA400369763 | MPO | n.916G>T c.708G>T (n.708G>T) n.623G>T c.1583G>T (p.Ser528Ile) c.41G>T (p.Ser14Ile) c.1769G>T (p.Ser590Ile) c.1298G>T (p.Ser433Ile) c.*132G>T (n.*132G>T) | gnomAD v4 |
| 17 | g.58273452C= | CA2267631254 | MPO | n.916G= c.708G= (n.708G=) n.623G= c.1583G= (p.Ser528=) c.41G= (p.Ser14=) c.1769G= (p.Ser590=) c.1298G= (p.Ser433=) c.*132G= (n.*132G=) | |
| 17 | g.58273452C>G | CA400369764 | MPO | n.916G>C c.708G>C (n.708G>C) n.623G>C c.1583G>C (p.Ser528Thr) c.41G>C (p.Ser14Thr) c.1769G>C (p.Ser590Thr) c.1298G>C (p.Ser433Thr) c.*132G>C (n.*132G>C) | gnomAD v4 |
| 17 | g.58273452C>T | CA400369767 | MPO | n.916G>A c.708G>A (n.708G>A) n.623G>A c.1583G>A (p.Ser528Asn) c.41G>A (p.Ser14Asn) c.1769G>A (p.Ser590Asn) c.1298G>A (p.Ser433Asn) c.*132G>A (n.*132G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.58273453T>A | CA400369769 | MPO | n.915A>T c.707A>T (n.707A>T) n.622A>T c.1582A>T (p.Ser528Cys) c.40A>T (p.Ser14Cys) c.1768A>T (p.Ser590Cys) c.1297A>T (p.Ser433Cys) c.*131A>T (n.*131A>T) | |
| 17 | g.58273453T>C | CA400369771 | MPO | n.915A>G c.707A>G (n.707A>G) n.622A>G c.1582A>G (p.Ser528Gly) c.40A>G (p.Ser14Gly) c.1768A>G (p.Ser590Gly) c.1297A>G (p.Ser433Gly) c.*131A>G (n.*131A>G) | |
| 17 | g.58273453T>G | CA400369772 | MPO | n.915A>C c.707A>C (n.707A>C) n.622A>C c.1582A>C (p.Ser528Arg) c.40A>C (p.Ser14Arg) c.1768A>C (p.Ser590Arg) c.1297A>C (p.Ser433Arg) c.*131A>C (n.*131A>C) | |
| 17 | g.58273454G>A | CA501022250 | MPO | n.914C>T c.706C>T (n.706C>T) n.621C>T c.1581C>T (p.Leu527=) c.39C>T (p.Leu13=) c.1767C>T (p.Leu589=) c.1296C>T (p.Leu432=) c.*130C>T (n.*130C>T) | |
| 17 | g.58273454G>C | CA501022255 | MPO | n.914C>G c.706C>G (n.706C>G) n.621C>G c.1581C>G (p.Leu527=) c.39C>G (p.Leu13=) c.1767C>G (p.Leu589=) c.1296C>G (p.Leu432=) c.*130C>G (n.*130C>G) | |
| 17 | g.58273454G>T | CA501022253 | MPO | n.914C>A c.706C>A (n.706C>A) n.621C>A c.1581C>A (p.Leu527=) c.39C>A (p.Leu13=) c.1767C>A (p.Leu589=) c.1296C>A (p.Leu432=) c.*130C>A (n.*130C>A) | |
| 17 | g.58273455A= | CA2267631255 | MPO | n.913T= c.705T= (n.705T=) n.620T= c.1580T= (p.Leu527=) c.38T= (p.Leu13=) c.1766T= (p.Leu589=) c.1295T= (p.Leu432=) c.*129T= (n.*129T=) | |
| 17 | g.58273455A>C | CA8670589 | MPO | n.913T>G c.705T>G (n.705T>G) n.620T>G c.1580T>G (p.Leu527Arg) c.38T>G (p.Leu13Arg) c.1766T>G (p.Leu589Arg) c.1295T>G (p.Leu432Arg) c.*129T>G (n.*129T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273455A>G | CA400369774 | MPO | n.913T>C c.705T>C (n.705T>C) n.620T>C c.1580T>C (p.Leu527Pro) c.38T>C (p.Leu13Pro) c.1766T>C (p.Leu589Pro) c.1295T>C (p.Leu432Pro) c.*129T>C (n.*129T>C) | |
| 17 | g.58273455A>T | CA400369776 | MPO | n.913T>A c.705T>A (n.705T>A) n.620T>A c.1580T>A (p.Leu527His) c.38T>A (p.Leu13His) c.1766T>A (p.Leu589His) c.1295T>A (p.Leu432His) c.*129T>A (n.*129T>A) | |
| 17 | g.58273456G>A | CA400369779 | MPO | n.912C>T c.704C>T (n.704C>T) n.619C>T c.1579C>T (p.Leu527Phe) c.37C>T (p.Leu13Phe) c.1765C>T (p.Leu589Phe) c.1294C>T (p.Leu432Phe) c.*128C>T (n.*128C>T) | |
| 17 | g.58273456G>C | CA400369781 | MPO | n.912C>G c.704C>G (n.704C>G) n.619C>G c.1579C>G (p.Leu527Val) c.37C>G (p.Leu13Val) c.1765C>G (p.Leu589Val) c.1294C>G (p.Leu432Val) c.*128C>G (n.*128C>G) | |
| 17 | g.58273456G= | CA2267631256 | MPO | n.912C= c.704C= (n.704C=) n.619C= c.1579C= (p.Leu527=) c.37C= (p.Leu13=) c.1765C= (p.Leu589=) c.1294C= (p.Leu432=) c.*128C= (n.*128C=) | |
| 17 | g.58273456G>T | CA400369783 | MPO | n.912C>A c.704C>A (n.704C>A) n.619C>A c.1579C>A (p.Leu527Ile) c.37C>A (p.Leu13Ile) c.1765C>A (p.Leu589Ile) c.1294C>A (p.Leu432Ile) c.*128C>A (n.*128C>A) | dbSNP gnomAD v4 |
| 17 | g.58273457G>A | CA501022264 | MPO | n.911C>T c.703C>T (n.703C>T) n.618C>T c.1578C>T (p.Pro526=) c.36C>T (p.Pro12=) c.1764C>T (p.Pro588=) c.1293C>T (p.Pro431=) c.*127C>T (n.*127C>T) | |
| 17 | g.58273457G>C | CA501022267 | MPO | n.911C>G c.703C>G (n.703C>G) n.618C>G c.1578C>G (p.Pro526=) c.36C>G (p.Pro12=) c.1764C>G (p.Pro588=) c.1293C>G (p.Pro431=) c.*127C>G (n.*127C>G) | |
| 17 | g.58273457G>T | CA501022268 | MPO | n.911C>A c.703C>A (n.703C>A) n.618C>A c.1578C>A (p.Pro526=) c.36C>A (p.Pro12=) c.1764C>A (p.Pro588=) c.1293C>A (p.Pro431=) c.*127C>A (n.*127C>A) | |
| 17 | g.58273458G>A | CA400369785 | MPO | n.910C>T c.702C>T (n.702C>T) n.617C>T c.1577C>T (p.Pro526Leu) c.35C>T (p.Pro12Leu) c.1763C>T (p.Pro588Leu) c.1292C>T (p.Pro431Leu) c.*126C>T (n.*126C>T) | |
| 17 | g.58273458G>C | CA400369787 | MPO | n.910C>G c.702C>G (n.702C>G) n.617C>G c.1577C>G (p.Pro526Arg) c.35C>G (p.Pro12Arg) c.1763C>G (p.Pro588Arg) c.1292C>G (p.Pro431Arg) c.*126C>G (n.*126C>G) | |
| 17 | g.58273458G>T | CA400369788 | MPO | n.910C>A c.702C>A (n.702C>A) n.617C>A c.1577C>A (p.Pro526His) c.35C>A (p.Pro12His) c.1763C>A (p.Pro588His) c.1292C>A (p.Pro431His) c.*126C>A (n.*126C>A) | |
| 17 | g.58273459G>A | CA400369790 | MPO | n.909C>T c.701C>T (n.701C>T) n.616C>T c.1576C>T (p.Pro526Ser) c.34C>T (p.Pro12Ser) c.1762C>T (p.Pro588Ser) c.1291C>T (p.Pro431Ser) c.*125C>T (n.*125C>T) | gnomAD v4 |
| 17 | g.58273459G>C | CA8670590 | MPO | n.909C>G c.701C>G (n.701C>G) n.616C>G c.1576C>G (p.Pro526Ala) c.34C>G (p.Pro12Ala) c.1762C>G (p.Pro588Ala) c.1291C>G (p.Pro431Ala) c.*125C>G (n.*125C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.58273459G= | CA2267631257 | MPO | n.909C= c.701C= (n.701C=) n.616C= c.1576C= (p.Pro526=) c.34C= (p.Pro12=) c.1762C= (p.Pro588=) c.1291C= (p.Pro431=) c.*125C= (n.*125C=) | |
| 17 | g.58273459G>T | CA400369793 | MPO | n.909C>A c.701C>A (n.701C>A) n.616C>A c.1576C>A (p.Pro526Thr) c.34C>A (p.Pro12Thr) c.1762C>A (p.Pro588Thr) c.1291C>A (p.Pro431Thr) c.*125C>A (n.*125C>A) | |
| 17 | g.58273460G>A | CA8670591 | MPO | n.908C>T c.700C>T (n.700C>T) n.615C>T c.1575C>T (p.Val525=) c.33C>T (p.Val11=) c.1761C>T (p.Val587=) c.1290C>T (p.Val430=) c.*124C>T (n.*124C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273460G>C | CA501022293 | MPO | n.908C>G c.700C>G (n.700C>G) n.615C>G c.1575C>G (p.Val525=) c.33C>G (p.Val11=) c.1761C>G (p.Val587=) c.1290C>G (p.Val430=) c.*124C>G (n.*124C>G) | |
| 17 | g.58273460G= | CA2267631258 | MPO | n.908C= c.700C= (n.700C=) n.615C= c.1575C= (p.Val525=) c.33C= (p.Val11=) c.1761C= (p.Val587=) c.1290C= (p.Val430=) c.*124C= (n.*124C=) | |
| 17 | g.58273460G>T | CA8670592 | MPO | n.908C>A c.700C>A (n.700C>A) n.615C>A c.1575C>A (p.Val525=) c.33C>A (p.Val11=) c.1761C>A (p.Val587=) c.1290C>A (p.Val430=) c.*124C>A (n.*124C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273461A>C | CA400369801 | MPO | n.907T>G c.699T>G (n.699T>G) n.614T>G c.1574T>G (p.Val525Gly) c.32T>G (p.Val11Gly) c.1760T>G (p.Val587Gly) c.1289T>G (p.Val430Gly) c.*123T>G (n.*123T>G) | |
| 17 | g.58273461A>G | CA400369800 | MPO | n.907T>C c.699T>C (n.699T>C) n.614T>C c.1574T>C (p.Val525Ala) c.32T>C (p.Val11Ala) c.1760T>C (p.Val587Ala) c.1289T>C (p.Val430Ala) c.*123T>C (n.*123T>C) | COSMIC COSMIC |
| 17 | g.58273461A>T | CA400369798 | MPO | n.907T>A c.699T>A (n.699T>A) n.614T>A c.1574T>A (p.Val525Asp) c.32T>A (p.Val11Asp) c.1760T>A (p.Val587Asp) c.1289T>A (p.Val430Asp) c.*123T>A (n.*123T>A) | |
| 17 | g.58273462C>A | CA400369804 | MPO | n.906G>T c.698G>T (n.698G>T) n.613G>T c.1573G>T (p.Val525Phe) c.31G>T (p.Val11Phe) c.1759G>T (p.Val587Phe) c.1288G>T (p.Val430Phe) c.*122G>T (n.*122G>T) | gnomAD v4 |
| 17 | g.58273462C>G | CA400369806 | MPO | n.906G>C c.698G>C (n.698G>C) n.613G>C c.1573G>C (p.Val525Leu) c.31G>C (p.Val11Leu) c.1759G>C (p.Val587Leu) c.1288G>C (p.Val430Leu) c.*122G>C (n.*122G>C) | |
| 17 | g.58273462C>T | CA400369808 | MPO | n.906G>A c.698G>A (n.698G>A) n.613G>A c.1573G>A (p.Val525Ile) c.31G>A (p.Val11Ile) c.1759G>A (p.Val587Ile) c.1288G>A (p.Val430Ile) c.*122G>A (n.*122G>A) | |
| 17 | g.58273462dup | CA2576333054 | MPO | n.906dup c.698dup (n.698dup) n.613dup c.1573dup (p.Val525GlyfsTer20) c.31dup (p.Val11GlyfsTer20) c.1759dup (p.Val587GlyfsTer20) c.1288dup (p.Val430GlyfsTer20) c.*122dup (n.*122dup) | |
| 17 | g.58273463A= | CA2267631259 | MPO | n.905T= c.697T= (n.697T=) n.612T= c.1572T= (p.Arg524=) c.30T= (p.Arg10=) c.1758T= (p.Arg586=) c.1287T= (p.Arg429=) c.*121T= (n.*121T=) | |
| 17 | g.58273463A>C | CA501022308 | MPO | n.905T>G c.697T>G (n.697T>G) n.612T>G c.1572T>G (p.Arg524=) c.30T>G (p.Arg10=) c.1758T>G (p.Arg586=) c.1287T>G (p.Arg429=) c.*121T>G (n.*121T>G) | |
| 17 | g.58273463A>G | CA501022311 | MPO | n.905T>C c.697T>C (n.697T>C) n.612T>C c.1572T>C (p.Arg524=) c.30T>C (p.Arg10=) c.1758T>C (p.Arg586=) c.1287T>C (p.Arg429=) c.*121T>C (n.*121T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.58273463A>T | CA501022313 | MPO | n.905T>A c.697T>A (n.697T>A) n.612T>A c.1572T>A (p.Arg524=) c.30T>A (p.Arg10=) c.1758T>A (p.Arg586=) c.1287T>A (p.Arg429=) c.*121T>A (n.*121T>A) | |
| 17 | g.58273464C>A | CA400369810 | MPO | n.904G>T c.696G>T (n.696G>T) n.611G>T c.1571G>T (p.Arg524Leu) c.29G>T (p.Arg10Leu) c.1757G>T (p.Arg586Leu) c.1286G>T (p.Arg429Leu) c.*120G>T (n.*120G>T) | |
| 17 | g.58273464C= | CA2267631260 | MPO | n.904G= c.696G= (n.696G=) n.611G= c.1571G= (p.Arg524=) c.29G= (p.Arg10=) c.1757G= (p.Arg586=) c.1286G= (p.Arg429=) c.*120G= (n.*120G=) | |
| 17 | g.58273464C>G | CA8670594 | MPO | n.904G>C c.696G>C (n.696G>C) n.611G>C c.1571G>C (p.Arg524Pro) c.29G>C (p.Arg10Pro) c.1757G>C (p.Arg586Pro) c.1286G>C (p.Arg429Pro) c.*120G>C (n.*120G>C) | dbSNP ExAC |
| 17 | g.58273464C>T | CA8670593 | MPO | n.904G>A c.696G>A (n.696G>A) n.611G>A c.1571G>A (p.Arg524His) c.29G>A (p.Arg10His) c.1757G>A (p.Arg586His) c.1286G>A (p.Arg429His) c.*120G>A (n.*120G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273465G>A | CA400369818 | MPO | n.903C>T c.695C>T (n.695C>T) n.610C>T c.1570C>T (p.Arg524Cys) c.28C>T (p.Arg10Cys) c.1756C>T (p.Arg586Cys) c.1285C>T (p.Arg429Cys) c.*119C>T (n.*119C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58273465G>C | CA400369814 | MPO | n.903C>G c.695C>G (n.695C>G) n.610C>G c.1570C>G (p.Arg524Gly) c.28C>G (p.Arg10Gly) c.1756C>G (p.Arg586Gly) c.1285C>G (p.Arg429Gly) c.*119C>G (n.*119C>G) | |
| 17 | g.58273465G= | CA2267631261 | MPO | n.903C= c.695C= (n.695C=) n.610C= c.1570C= (p.Arg524=) c.28C= (p.Arg10=) c.1756C= (p.Arg586=) c.1285C= (p.Arg429=) c.*119C= (n.*119C=) | |
| 17 | g.58273465G>T | CA400369816 | MPO | n.903C>A c.695C>A (n.695C>A) n.610C>A c.1570C>A (p.Arg524Ser) c.28C>A (p.Arg10Ser) c.1756C>A (p.Arg586Ser) c.1285C>A (p.Arg429Ser) c.*119C>A (n.*119C>A) | |
| 17 | g.58273466G>A | CA292012176 | MPO | n.902C>T c.694C>T (n.694C>T) n.609C>T c.1569C>T (p.Pro523=) c.27C>T (p.Pro9=) c.1755C>T (p.Pro585=) c.1284C>T (p.Pro428=) c.*118C>T (n.*118C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.58273466G>C | CA501022328 | MPO | n.902C>G c.694C>G (n.694C>G) n.609C>G c.1569C>G (p.Pro523=) c.27C>G (p.Pro9=) c.1755C>G (p.Pro585=) c.1284C>G (p.Pro428=) c.*118C>G (n.*118C>G) | |
| 17 | g.58273466G= | CA2267631263 | MPO | n.902C= c.694C= (n.694C=) n.609C= c.1569C= (p.Pro523=) c.27C= (p.Pro9=) c.1755C= (p.Pro585=) c.1284C= (p.Pro428=) c.*118C= (n.*118C=) | |
| 17 | g.58273466G>T | CA501022324 | MPO | n.902C>A c.694C>A (n.694C>A) n.609C>A c.1569C>A (p.Pro523=) c.27C>A (p.Pro9=) c.1755C>A (p.Pro585=) c.1284C>A (p.Pro428=) c.*118C>A (n.*118C>A) | |
| 17 | g.58273468_58273469insTTGGGTTCCATGGG | CA292012172 | MPO | n.902_903insATGGAACCCAACCC c.694_695insATGGAACCCAACCC (n.694_695insATGGAACCCAACCC) n.609_610insATGGAACCCAACCC c.1569_1570insATGGAACCCAACCC (p.Arg524MetfsTer?) c.27_28insATGGAACCCAACCC (p.Arg10MetfsTer?) c.1755_1756insATGGAACCCAACCC (p.Arg586MetfsTer?) c.1284_1285insATGGAACCCAACCC (p.Arg429MetfsTer?) c.*118_*119insATGGAACCCAACCC (n.*118_*119insATGGAACCCAACCC) | |
| 17 | g.58273466_58273480delinsGGGGTTGGGTTCCAT | CA2267631262 | MPO | n.888_902delinsATGGAACCCAACCCC c.680_694delinsATGGAACCCAACCCC (n.680_694delinsATGGAACCCAACCCC) n.595_609delinsATGGAACCCAACCCC c.1555_1569delinsATGGAACCCAACCCC (p.Met519=) c.13_27delinsATGGAACCCAACCCC (p.Met5=) c.1741_1755delinsATGGAACCCAACCCC (p.Met581=) c.1270_1284delinsATGGAACCCAACCCC (p.Met424=) c.*104_*118delinsATGGAACCCAACCCC (n.*104_*118delinsATGGAACCCAACCCC) | |
| 17 | g.58273467G>A | CA400369823 | MPO | n.901C>T c.693C>T (n.693C>T) n.608C>T c.1568C>T (p.Pro523Leu) c.26C>T (p.Pro9Leu) c.1754C>T (p.Pro585Leu) c.1283C>T (p.Pro428Leu) c.*117C>T (n.*117C>T) | dbSNP |
| 17 | g.58273467G>C | CA400369825 | MPO | n.901C>G c.693C>G (n.693C>G) n.608C>G c.1568C>G (p.Pro523Arg) c.26C>G (p.Pro9Arg) c.1754C>G (p.Pro585Arg) c.1283C>G (p.Pro428Arg) c.*117C>G (n.*117C>G) | |
| 17 | g.58273467G= | CA2267631264 | MPO | n.901C= c.693C= (n.693C=) n.608C= c.1568C= (p.Pro523=) c.26C= (p.Pro9=) c.1754C= (p.Pro585=) c.1283C= (p.Pro428=) c.*117C= (n.*117C=) | |
| 17 | g.58273467G>T | CA400369827 | MPO | n.901C>A c.693C>A (n.693C>A) n.608C>A c.1568C>A (p.Pro523His) c.26C>A (p.Pro9His) c.1754C>A (p.Pro585His) c.1283C>A (p.Pro428His) c.*117C>A (n.*117C>A) | gnomAD v4 |
| 17 | g.58273470_58273483dup | CA773505924 | MPO | n.888_901dup c.680_693dup (n.680_693dup) n.595_608dup c.1555_1568dup (p.Arg524TrpfsTer?) c.13_26dup (p.Arg10TrpfsTer?) c.1741_1754dup (p.Arg586TrpfsTer?) c.1270_1283dup (p.Arg429TrpfsTer?) c.*104_*117dup (n.*104_*117dup) | dbSNP |
| 17 | g.58273470_58273483del | CA212809 | MPO | n.888_901del c.680_693del (n.680_693del) n.595_608del c.1555_1568del (p.Met519ProfsTer21) c.13_26del (p.Met5ProfsTer21) c.1741_1754del (p.Met581ProfsTer21) c.1270_1283del (p.Met424ProfsTer21) c.*104_*117del (n.*104_*117del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273468G>A | CA8670595 | MPO | n.900C>T c.692C>T (n.692C>T) n.607C>T c.1567C>T (p.Pro523Ser) c.25C>T (p.Pro9Ser) c.1753C>T (p.Pro585Ser) c.1282C>T (p.Pro428Ser) c.*116C>T (n.*116C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273468G>C | CA8670596 | MPO | n.900C>G c.692C>G (n.692C>G) n.607C>G c.1567C>G (p.Pro523Ala) c.25C>G (p.Pro9Ala) c.1753C>G (p.Pro585Ala) c.1282C>G (p.Pro428Ala) c.*116C>G (n.*116C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.58273468G= | CA2267631265 | MPO | n.900C= c.692C= (n.692C=) n.607C= c.1567C= (p.Pro523=) c.25C= (p.Pro9=) c.1753C= (p.Pro585=) c.1282C= (p.Pro428=) c.*116C= (n.*116C=) | |
| 17 | g.58273468G>T | CA400369833 | MPO | n.900C>A c.692C>A (n.692C>A) n.607C>A c.1567C>A (p.Pro523Thr) c.25C>A (p.Pro9Thr) c.1753C>A (p.Pro585Thr) c.1282C>A (p.Pro428Thr) c.*116C>A (n.*116C>A) | |
| 17 | g.58273469G>A | CA8670597 | MPO | n.899C>T c.691C>T (n.691C>T) n.606C>T c.1566C>T (p.Asn522=) c.24C>T (p.Asn8=) c.1752C>T (p.Asn584=) c.1281C>T (p.Asn427=) c.*115C>T (n.*115C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273469G>C | CA400369837 | MPO | n.899C>G c.691C>G (n.691C>G) n.606C>G c.1566C>G (p.Asn522Lys) c.24C>G (p.Asn8Lys) c.1752C>G (p.Asn584Lys) c.1281C>G (p.Asn427Lys) c.*115C>G (n.*115C>G) | |
| 17 | g.58273469G= | CA2267631266 | MPO | n.899C= c.691C= (n.691C=) n.606C= c.1566C= (p.Asn522=) c.24C= (p.Asn8=) c.1752C= (p.Asn584=) c.1281C= (p.Asn427=) c.*115C= (n.*115C=) | |
| 17 | g.58273469G>T | CA8670598 | MPO | n.899C>A c.691C>A (n.691C>A) n.606C>A c.1566C>A (p.Asn522Lys) c.24C>A (p.Asn8Lys) c.1752C>A (p.Asn584Lys) c.1281C>A (p.Asn427Lys) c.*115C>A (n.*115C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273470T>A | CA400369840 | MPO | n.898A>T c.690A>T (n.690A>T) n.605A>T c.1565A>T (p.Asn522Ile) c.23A>T (p.Asn8Ile) c.1751A>T (p.Asn584Ile) c.1280A>T (p.Asn427Ile) c.*114A>T (n.*114A>T) | |
| 17 | g.58273470T>C | CA292012197 | MPO | n.898A>G c.690A>G (n.690A>G) n.605A>G c.1565A>G (p.Asn522Ser) c.23A>G (p.Asn8Ser) c.1751A>G (p.Asn584Ser) c.1280A>G (p.Asn427Ser) c.*114A>G (n.*114A>G) | dbSNP |
| 17 | g.58273470T>G | CA400369844 | MPO | n.898A>C c.690A>C (n.690A>C) n.605A>C c.1565A>C (p.Asn522Thr) c.23A>C (p.Asn8Thr) c.1751A>C (p.Asn584Thr) c.1280A>C (p.Asn427Thr) c.*114A>C (n.*114A>C) | |
| 17 | g.58273470T= | CA2267631267 | MPO | n.898A= c.690A= (n.690A=) n.605A= c.1565A= (p.Asn522=) c.23A= (p.Asn8=) c.1751A= (p.Asn584=) c.1280A= (p.Asn427=) c.*114A= (n.*114A=) | |
| 17 | g.58273471T>A | CA400369846 | MPO | n.897A>T c.689A>T (n.689A>T) n.604A>T c.1564A>T (p.Asn522Tyr) c.22A>T (p.Asn8Tyr) c.1750A>T (p.Asn584Tyr) c.1279A>T (p.Asn427Tyr) c.*113A>T (n.*113A>T) | |
| 17 | g.58273471T>C | CA400369848 | MPO | n.897A>G c.689A>G (n.689A>G) n.604A>G c.1564A>G (p.Asn522Asp) c.22A>G (p.Asn8Asp) c.1750A>G (p.Asn584Asp) c.1279A>G (p.Asn427Asp) c.*113A>G (n.*113A>G) | |
| 17 | g.58273471T>G | CA400369849 | MPO | n.897A>C c.689A>C (n.689A>C) n.604A>C c.1564A>C (p.Asn522His) c.22A>C (p.Asn8His) c.1750A>C (p.Asn584His) c.1279A>C (p.Asn427His) c.*113A>C (n.*113A>C) | |
| 17 | g.58273472G>A | CA501022353 | MPO | n.896C>T c.688C>T (n.688C>T) n.603C>T c.1563C>T (p.Pro521=) c.21C>T (p.Pro7=) c.1749C>T (p.Pro583=) c.1278C>T (p.Pro426=) c.*112C>T (n.*112C>T) | |
| 17 | g.58273472G>C | CA501022356 | MPO | n.896C>G c.688C>G (n.688C>G) n.603C>G c.1563C>G (p.Pro521=) c.21C>G (p.Pro7=) c.1749C>G (p.Pro583=) c.1278C>G (p.Pro426=) c.*112C>G (n.*112C>G) | |
| 17 | g.58273472G>T | CA501022357 | MPO | n.896C>A c.688C>A (n.688C>A) n.603C>A c.1563C>A (p.Pro521=) c.21C>A (p.Pro7=) c.1749C>A (p.Pro583=) c.1278C>A (p.Pro426=) c.*112C>A (n.*112C>A) | gnomAD v4 |
| 17 | g.58273473G>A | CA400369853 | MPO | n.895C>T c.687C>T (n.687C>T) n.602C>T c.1562C>T (p.Pro521Leu) c.20C>T (p.Pro7Leu) c.1748C>T (p.Pro583Leu) c.1277C>T (p.Pro426Leu) c.*111C>T (n.*111C>T) | |
| 17 | g.58273473G>C | CA400369851 | MPO | n.895C>G c.687C>G (n.687C>G) n.602C>G c.1562C>G (p.Pro521Arg) c.20C>G (p.Pro7Arg) c.1748C>G (p.Pro583Arg) c.1277C>G (p.Pro426Arg) c.*111C>G (n.*111C>G) | |
| 17 | g.58273473G>T | CA400369850 | MPO | n.895C>A c.687C>A (n.687C>A) n.602C>A c.1562C>A (p.Pro521His) c.20C>A (p.Pro7His) c.1748C>A (p.Pro583His) c.1277C>A (p.Pro426His) c.*111C>A (n.*111C>A) | |
| 17 | g.58273474G>A | CA400369855 | MPO | n.894C>T c.686C>T (n.686C>T) n.601C>T c.1561C>T (p.Pro521Ser) c.19C>T (p.Pro7Ser) c.1747C>T (p.Pro583Ser) c.1276C>T (p.Pro426Ser) c.*110C>T (n.*110C>T) | dbSNP |
| 17 | g.58273474G>C | CA400369857 | MPO | n.894C>G c.686C>G (n.686C>G) n.601C>G c.1561C>G (p.Pro521Ala) c.19C>G (p.Pro7Ala) c.1747C>G (p.Pro583Ala) c.1276C>G (p.Pro426Ala) c.*110C>G (n.*110C>G) | |
| 17 | g.58273474G>T | CA400369856 | MPO | n.894C>A c.686C>A (n.686C>A) n.601C>A c.1561C>A (p.Pro521Thr) c.19C>A (p.Pro7Thr) c.1747C>A (p.Pro583Thr) c.1276C>A (p.Pro426Thr) c.*110C>A (n.*110C>A) | COSMIC |
| 17 | g.58273475T>A | CA400369858 | MPO | n.893A>T c.685A>T (n.685A>T) n.600A>T c.1560A>T (p.Glu520Asp) c.18A>T (p.Glu6Asp) c.1746A>T (p.Glu582Asp) c.1275A>T (p.Glu425Asp) c.*109A>T (n.*109A>T) | |
| 17 | g.58273475T>C | CA501022377 | MPO | n.893A>G c.685A>G (n.685A>G) n.600A>G c.1560A>G (p.Glu520=) c.18A>G (p.Glu6=) c.1746A>G (p.Glu582=) c.1275A>G (p.Glu425=) c.*109A>G (n.*109A>G) | |
| 17 | g.58273475T>G | CA400369859 | MPO | n.893A>C c.685A>C (n.685A>C) n.600A>C c.1560A>C (p.Glu520Asp) c.18A>C (p.Glu6Asp) c.1746A>C (p.Glu582Asp) c.1275A>C (p.Glu425Asp) c.*109A>C (n.*109A>C) | |
| 17 | g.58273476T>A | CA400369860 | MPO | n.892A>T c.684A>T (n.684A>T) n.599A>T c.1559A>T (p.Glu520Val) c.17A>T (p.Glu6Val) c.1745A>T (p.Glu582Val) c.1274A>T (p.Glu425Val) c.*108A>T (n.*108A>T) | |
| 17 | g.58273476T>C | CA400369861 | MPO | n.892A>G c.684A>G (n.684A>G) n.599A>G c.1559A>G (p.Glu520Gly) c.17A>G (p.Glu6Gly) c.1745A>G (p.Glu582Gly) c.1274A>G (p.Glu425Gly) c.*108A>G (n.*108A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58273476T>G | CA400369862 | MPO | n.892A>C c.684A>C (n.684A>C) n.599A>C c.1559A>C (p.Glu520Ala) c.17A>C (p.Glu6Ala) c.1745A>C (p.Glu582Ala) c.1274A>C (p.Glu425Ala) c.*108A>C (n.*108A>C) | gnomAD v4 |
| 17 | g.58273476T= | CA2267631268 | MPO | n.892A= c.684A= (n.684A=) n.599A= c.1559A= (p.Glu520=) c.17A= (p.Glu6=) c.1745A= (p.Glu582=) c.1274A= (p.Glu425=) c.*108A= (n.*108A=) | |
| 17 | g.58273477C>A | CA400369865 | MPO | n.891G>T c.683G>T (n.683G>T) n.598G>T c.1558G>T (p.Glu520Ter) c.16G>T (p.Glu6Ter) c.1744G>T (p.Glu582Ter) c.1273G>T (p.Glu425Ter) c.*107G>T (n.*107G>T) | |
| 17 | g.58273477C>G | CA400369864 | MPO | n.891G>C c.683G>C (n.683G>C) n.598G>C c.1558G>C (p.Glu520Gln) c.16G>C (p.Glu6Gln) c.1744G>C (p.Glu582Gln) c.1273G>C (p.Glu425Gln) c.*107G>C (n.*107G>C) | |
| 17 | g.58273477C>T | CA400369863 | MPO | n.891G>A c.683G>A (n.683G>A) n.598G>A c.1558G>A (p.Glu520Lys) c.16G>A (p.Glu6Lys) c.1744G>A (p.Glu582Lys) c.1273G>A (p.Glu425Lys) c.*107G>A (n.*107G>A) | gnomAD v4 |
| 17 | g.58273478C>A | CA400369867 | MPO | n.890G>T c.682G>T (n.682G>T) n.597G>T c.1557G>T (p.Met519Ile) c.15G>T (p.Met5Ile) c.1743G>T (p.Met581Ile) c.1272G>T (p.Met424Ile) c.*106G>T (n.*106G>T) | |
| 17 | g.58273478C= | CA2267631269 | MPO | n.890G= c.682G= (n.682G=) n.597G= c.1557G= (p.Met519=) c.15G= (p.Met5=) c.1743G= (p.Met581=) c.1272G= (p.Met424=) c.*106G= (n.*106G=) | |
| 17 | g.58273478C>G | CA400369868 | MPO | n.890G>C c.682G>C (n.682G>C) n.597G>C c.1557G>C (p.Met519Ile) c.15G>C (p.Met5Ile) c.1743G>C (p.Met581Ile) c.1272G>C (p.Met424Ile) c.*106G>C (n.*106G>C) | |
| 17 | g.58273478C>T | CA292012199 | MPO | n.890G>A c.682G>A (n.682G>A) n.597G>A c.1557G>A (p.Met519Ile) c.15G>A (p.Met5Ile) c.1743G>A (p.Met581Ile) c.1272G>A (p.Met424Ile) c.*106G>A (n.*106G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273479A= | CA2267631270 | MPO | n.889T= c.681T= (n.681T=) n.596T= c.1556T= (p.Met519=) c.14T= (p.Met5=) c.1742T= (p.Met581=) c.1271T= (p.Met424=) c.*105T= (n.*105T=) | |
| 17 | g.58273479A>C | CA400369870 | MPO | n.889T>G c.681T>G (n.681T>G) n.596T>G c.1556T>G (p.Met519Arg) c.14T>G (p.Met5Arg) c.1742T>G (p.Met581Arg) c.1271T>G (p.Met424Arg) c.*105T>G (n.*105T>G) | |
| 17 | g.58273479A>G | CA400369871 | MPO | n.889T>C c.681T>C (n.681T>C) n.596T>C c.1556T>C (p.Met519Thr) c.14T>C (p.Met5Thr) c.1742T>C (p.Met581Thr) c.1271T>C (p.Met424Thr) c.*105T>C (n.*105T>C) | dbSNP |
| 17 | g.58273479A>T | CA400369873 | MPO | n.889T>A c.681T>A (n.681T>A) n.596T>A c.1556T>A (p.Met519Lys) c.14T>A (p.Met5Lys) c.1742T>A (p.Met581Lys) c.1271T>A (p.Met424Lys) c.*105T>A (n.*105T>A) | |
| 17 | g.58273480T>A | CA400369875 | MPO | n.888A>T c.680A>T (n.680A>T) n.595A>T c.1555A>T (p.Met519Leu) c.13A>T (p.Met5Leu) c.1741A>T (p.Met581Leu) c.1270A>T (p.Met424Leu) c.*104A>T (n.*104A>T) | |
| 17 | g.58273480T>C | CA8670599 | MPO | n.888A>G c.680A>G (n.680A>G) n.595A>G c.1555A>G (p.Met519Val) c.13A>G (p.Met5Val) c.1741A>G (p.Met581Val) c.1270A>G (p.Met424Val) c.*104A>G (n.*104A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273480T>G | CA400369877 | MPO | n.888A>C c.680A>C (n.680A>C) n.595A>C c.1555A>C (p.Met519Leu) c.13A>C (p.Met5Leu) c.1741A>C (p.Met581Leu) c.1270A>C (p.Met424Leu) c.*104A>C (n.*104A>C) | |
| 17 | g.58273480T= | CA2267631271 | MPO | n.888A= c.680A= (n.680A=) n.595A= c.1555A= (p.Met519=) c.13A= (p.Met5=) c.1741A= (p.Met581=) c.1270A= (p.Met424=) c.*104A= (n.*104A=) | |
| 17 | g.58273480_58273481delinsTG | CA2267631272 | MPO | n.887_888delinsCA c.679_680delinsCA (n.679_680delinsCA) n.594_595delinsCA c.1554_1555delinsCA (p.Pro518=) c.12_13delinsCA (p.Pro4=) c.1740_1741delinsCA (p.Pro580=) c.1269_1270delinsCA (p.Pro423=) c.*103_*104delinsCA (n.*103_*104delinsCA) | |
| 17 | g.58273481G>A | CA501022434 | MPO | n.887C>T c.679C>T (n.679C>T) n.594C>T c.1554C>T (p.Pro518=) c.12C>T (p.Pro4=) c.1740C>T (p.Pro580=) c.1269C>T (p.Pro423=) c.*103C>T (n.*103C>T) | dbSNP |
| 17 | g.58273481G>C | CA501022429 | MPO | n.887C>G c.679C>G (n.679C>G) n.594C>G c.1554C>G (p.Pro518=) c.12C>G (p.Pro4=) c.1740C>G (p.Pro580=) c.1269C>G (p.Pro423=) c.*103C>G (n.*103C>G) | |
| 17 | g.58273481G= | CA2267631273 | MPO | n.887C= c.679C= (n.679C=) n.594C= c.1554C= (p.Pro518=) c.12C= (p.Pro4=) c.1740C= (p.Pro580=) c.1269C= (p.Pro423=) c.*103C= (n.*103C=) | |
| 17 | g.58273481G>T | CA501022424 | MPO | n.887C>A c.679C>A (n.679C>A) n.594C>A c.1554C>A (p.Pro518=) c.12C>A (p.Pro4=) c.1740C>A (p.Pro580=) c.1269C>A (p.Pro423=) c.*103C>A (n.*103C>A) | |
| 17 | g.58273483del | CA627143469 | MPO | n.887del c.679del (n.679del) n.594del c.1554del (p.Met519TrpfsTer?) c.12del (p.Met5TrpfsTer?) c.1740del (p.Met581TrpfsTer?) c.1269del (p.Met424TrpfsTer?) c.*103del (n.*103del) | dbSNP gnomAD v2 |
| 17 | g.58273482G>A | CA400369880 | MPO | n.886C>T c.678C>T (n.678C>T) n.593C>T c.1553C>T (p.Pro518Leu) c.11C>T (p.Pro4Leu) c.1739C>T (p.Pro580Leu) c.1268C>T (p.Pro423Leu) c.*102C>T (n.*102C>T) | |
| 17 | g.58273482G>C | CA400369882 | MPO | n.886C>G c.678C>G (n.678C>G) n.593C>G c.1553C>G (p.Pro518Arg) c.11C>G (p.Pro4Arg) c.1739C>G (p.Pro580Arg) c.1268C>G (p.Pro423Arg) c.*102C>G (n.*102C>G) | |
| 17 | g.58273482G>T | CA400369884 | MPO | n.886C>A c.678C>A (n.678C>A) n.593C>A c.1553C>A (p.Pro518His) c.11C>A (p.Pro4His) c.1739C>A (p.Pro580His) c.1268C>A (p.Pro423His) c.*102C>A (n.*102C>A) | |
| 17 | g.58273483G>A | CA400369886 | MPO | n.885C>T c.677C>T (n.677C>T) n.592C>T c.1552C>T (p.Pro518Ser) c.10C>T (p.Pro4Ser) c.1738C>T (p.Pro580Ser) c.1267C>T (p.Pro423Ser) c.*101C>T (n.*101C>T) | |
| 17 | g.58273483G>C | CA400369889 | MPO | n.885C>G c.677C>G (n.677C>G) n.592C>G c.1552C>G (p.Pro518Ala) c.10C>G (p.Pro4Ala) c.1738C>G (p.Pro580Ala) c.1267C>G (p.Pro423Ala) c.*101C>G (n.*101C>G) | |
| 17 | g.58273483G>T | CA400369890 | MPO | n.885C>A c.677C>A (n.677C>A) n.592C>A c.1552C>A (p.Pro518Thr) c.10C>A (p.Pro4Thr) c.1738C>A (p.Pro580Thr) c.1267C>A (p.Pro423Thr) c.*101C>A (n.*101C>A) | |
| 17 | g.58273484C>A | CA400369894 | MPO | n.884G>T c.676G>T (n.676G>T) n.591G>T c.1551G>T (p.Gln517His) c.9G>T (p.Gln3His) c.1737G>T (p.Gln579His) c.1266G>T (p.Gln422His) c.*100G>T (n.*100G>T) | |
| 17 | g.58273484C>G | CA400369895 | MPO | n.884G>C c.676G>C (n.676G>C) n.591G>C c.1551G>C (p.Gln517His) c.9G>C (p.Gln3His) c.1737G>C (p.Gln579His) c.1266G>C (p.Gln422His) c.*100G>C (n.*100G>C) | |
| 17 | g.58273484C>T | CA501022448 | MPO | n.884G>A c.676G>A (n.676G>A) n.591G>A c.1551G>A (p.Gln517=) c.9G>A (p.Gln3=) c.1737G>A (p.Gln579=) c.1266G>A (p.Gln422=) c.*100G>A (n.*100G>A) | |
| 17 | g.58273485T>A | CA400369898 | MPO | n.883A>T c.675A>T (n.675A>T) n.590A>T c.1550A>T (p.Gln517Leu) c.8A>T (p.Gln3Leu) c.1736A>T (p.Gln579Leu) c.1265A>T (p.Gln422Leu) c.*99A>T (n.*99A>T) | |
| 17 | g.58273485T>C | CA400369899 | MPO | n.883A>G c.675A>G (n.675A>G) n.590A>G c.1550A>G (p.Gln517Arg) c.8A>G (p.Gln3Arg) c.1736A>G (p.Gln579Arg) c.1265A>G (p.Gln422Arg) c.*99A>G (n.*99A>G) | |
| 17 | g.58273485T>G | CA400369901 | MPO | n.883A>C c.675A>C (n.675A>C) n.590A>C c.1550A>C (p.Gln517Pro) c.8A>C (p.Gln3Pro) c.1736A>C (p.Gln579Pro) c.1265A>C (p.Gln422Pro) c.*99A>C (n.*99A>C) | |
| 17 | g.58273486G>A | CA400369904 | MPO | n.882C>T c.674C>T (n.674C>T) n.589C>T c.1549C>T (p.Gln517Ter) c.7C>T (p.Gln3Ter) c.1735C>T (p.Gln579Ter) c.1264C>T (p.Gln422Ter) c.*98C>T (n.*98C>T) | |
| 17 | g.58273486G>C | CA400369908 | MPO | n.882C>G c.674C>G (n.674C>G) n.589C>G c.1549C>G (p.Gln517Glu) c.7C>G (p.Gln3Glu) c.1735C>G (p.Gln579Glu) c.1264C>G (p.Gln422Glu) c.*98C>G (n.*98C>G) | |
| 17 | g.58273486G>T | CA400369906 | MPO | n.882C>A c.674C>A (n.674C>A) n.589C>A c.1549C>A (p.Gln517Lys) c.7C>A (p.Gln3Lys) c.1735C>A (p.Gln579Lys) c.1264C>A (p.Gln422Lys) c.*98C>A (n.*98C>A) | gnomAD v4 |
| 17 | g.58273487G>A | CA501022463 | MPO | n.881C>T c.673C>T (n.673C>T) n.588C>T c.1548C>T (p.Tyr516=) c.6C>T (p.Tyr2=) c.1734C>T (p.Tyr578=) c.1263C>T (p.Tyr421=) c.*97C>T (n.*97C>T) | |
| 17 | g.58273487G>C | CA400369910 | MPO | n.881C>G c.673C>G (n.673C>G) n.588C>G c.1548C>G (p.Tyr516Ter) c.6C>G (p.Tyr2Ter) c.1734C>G (p.Tyr578Ter) c.1263C>G (p.Tyr421Ter) c.*97C>G (n.*97C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58273487G>T | CA400369911 | MPO | n.881C>A c.673C>A (n.673C>A) n.588C>A c.1548C>A (p.Tyr516Ter) c.6C>A (p.Tyr2Ter) c.1734C>A (p.Tyr578Ter) c.1263C>A (p.Tyr421Ter) c.*97C>A (n.*97C>A) | |
| 17 | g.58273488T>A | CA400369913 | MPO | n.880A>T c.672A>T (n.672A>T) n.587A>T c.1547A>T (p.Tyr516Phe) c.5A>T (p.Tyr2Phe) c.1733A>T (p.Tyr578Phe) c.1262A>T (p.Tyr421Phe) c.*96A>T (n.*96A>T) | |
| 17 | g.58273488T>C | CA400369914 | MPO | n.880A>G c.672A>G (n.672A>G) n.587A>G c.1547A>G (p.Tyr516Cys) c.5A>G (p.Tyr2Cys) c.1733A>G (p.Tyr578Cys) c.1262A>G (p.Tyr421Cys) c.*96A>G (n.*96A>G) | |
| 17 | g.58273488T>G | CA400369916 | MPO | n.880A>C c.672A>C (n.672A>C) n.587A>C c.1547A>C (p.Tyr516Ser) c.5A>C (p.Tyr2Ser) c.1733A>C (p.Tyr578Ser) c.1262A>C (p.Tyr421Ser) c.*96A>C (n.*96A>C) | |
| 17 | g.58273489A>C | CA400369918 | MPO | n.879T>G c.671T>G (n.671T>G) n.586T>G c.1546T>G (p.Tyr516Asp) c.4T>G (p.Tyr2Asp) c.1732T>G (p.Tyr578Asp) c.1261T>G (p.Tyr421Asp) c.*95T>G (n.*95T>G) | |
| 17 | g.58273489A>G | CA400369919 | MPO | n.879T>C c.671T>C (n.671T>C) n.586T>C c.1546T>C (p.Tyr516His) c.4T>C (p.Tyr2His) c.1732T>C (p.Tyr578His) c.1261T>C (p.Tyr421His) c.*95T>C (n.*95T>C) | |
| 17 | g.58273489A>T | CA400369921 | MPO | n.879T>A c.671T>A (n.671T>A) n.586T>A c.1546T>A (p.Tyr516Asn) c.4T>A (p.Tyr2Asn) c.1732T>A (p.Tyr578Asn) c.1261T>A (p.Tyr421Asn) c.*95T>A (n.*95T>A) | |
| 17 | g.58273490C>A | CA501022478 | MPO | n.878G>T c.670G>T (n.670G>T) n.585G>T c.1545G>T (p.Arg515=) c.3G>T (p.Arg1=) c.1731G>T (p.Arg577=) c.1260G>T (p.Arg420=) c.*94G>T (n.*94G>T) | |
| 17 | g.58273490C= | CA2267631274 | MPO | n.878G= c.670G= (n.670G=) n.585G= c.1545G= (p.Arg515=) c.3G= (p.Arg1=) c.1731G= (p.Arg577=) c.1260G= (p.Arg420=) c.*94G= (n.*94G=) | |
| 17 | g.58273490C>G | CA501022481 | MPO | n.878G>C c.670G>C (n.670G>C) n.585G>C c.1545G>C (p.Arg515=) c.3G>C (p.Arg1=) c.1731G>C (p.Arg577=) c.1260G>C (p.Arg420=) c.*94G>C (n.*94G>C) | |
| 17 | g.58273490C>T | CA501022483 | MPO | n.878G>A c.670G>A (n.670G>A) n.585G>A c.1545G>A (p.Arg515=) c.3G>A (p.Arg1=) c.1731G>A (p.Arg577=) c.1260G>A (p.Arg420=) c.*94G>A (n.*94G>A) | dbSNP COSMIC |
| 17 | g.58273491C>A | CA400369924 | MPO | n.877G>T c.669G>T (n.669G>T) n.584G>T c.1544G>T (p.Arg515Leu) c.2G>T (p.Arg1Leu) c.1730G>T (p.Arg577Leu) c.1259G>T (p.Arg420Leu) c.*93G>T (n.*93G>T) | gnomAD v4 |
| 17 | g.58273491C= | CA2267631275 | MPO | n.877G= c.669G= (n.669G=) n.584G= c.1544G= (p.Arg515=) c.2G= (p.Arg1=) c.1730G= (p.Arg577=) c.1259G= (p.Arg420=) c.*93G= (n.*93G=) | |
| 17 | g.58273491C>G | CA8670601 | MPO | n.877G>C c.669G>C (n.669G>C) n.584G>C c.1544G>C (p.Arg515Pro) c.2G>C (p.Arg1Pro) c.1730G>C (p.Arg577Pro) c.1259G>C (p.Arg420Pro) c.*93G>C (n.*93G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273491C>T | CA8670600 | MPO | n.877G>A c.669G>A (n.669G>A) n.584G>A c.1544G>A (p.Arg515Gln) c.2G>A (p.Arg1Gln) c.1730G>A (p.Arg577Gln) c.1259G>A (p.Arg420Gln) c.*93G>A (n.*93G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.58273492G>A | CA8670602 | MPO | n.876C>T c.668C>T (n.668C>T) n.583C>T c.1543C>T (p.Arg515Trp) c.1C>T (p.Arg1Trp) c.1729C>T (p.Arg577Trp) c.1258C>T (p.Arg420Trp) c.*92C>T (n.*92C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.58273492G>C | CA400369928 | MPO | n.876C>G c.668C>G (n.668C>G) n.583C>G c.1543C>G (p.Arg515Gly) c.1C>G (p.Arg1Gly) c.1729C>G (p.Arg577Gly) c.1258C>G (p.Arg420Gly) c.*92C>G (n.*92C>G) | |
| 17 | g.58273492G= | CA2267631276 | MPO | n.876C= c.668C= (n.668C=) n.583C= c.1543C= (p.Arg515=) c.1C= (p.Arg1=) c.1729C= (p.Arg577=) c.1258C= (p.Arg420=) c.*92C= (n.*92C=) | |
| 17 | g.58273492G>T | CA501022498 | MPO | n.876C>A c.668C>A (n.668C>A) n.583C>A c.1543C>A (p.Arg515=) c.1C>A (p.Arg1=) c.1729C>A (p.Arg577=) c.1258C>A (p.Arg420=) c.*92C>A (n.*92C>A) | |
| 17 | g.58273493A= | CA2267631277 | MPO | n.875T= c.667T= (n.667T=) n.582T= c.1542T= (p.Asn514=) c.1728T= (p.Asn576=) c.1257T= (p.Asn419=) c.*91T= (n.*91T=) | |
| 17 | g.58273493A>C | CA400369930 | MPO | n.875T>G c.667T>G (n.667T>G) n.582T>G c.1542T>G (p.Asn514Lys) c.1728T>G (p.Asn576Lys) c.1257T>G (p.Asn419Lys) c.*91T>G (n.*91T>G) | |
| 17 | g.58273493A>G | CA501022503 | MPO | n.875T>C c.667T>C (n.667T>C) n.582T>C c.1542T>C (p.Asn514=) c.1728T>C (p.Asn576=) c.1257T>C (p.Asn419=) c.*91T>C (n.*91T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273493A>T | CA400369932 | MPO | n.875T>A c.667T>A (n.667T>A) n.582T>A c.1542T>A (p.Asn514Lys) c.1728T>A (p.Asn576Lys) c.1257T>A (p.Asn419Lys) c.*91T>A (n.*91T>A) | |
| 17 | g.58273494T>A | CA400369933 | MPO | n.874A>T c.666A>T (n.666A>T) n.581A>T c.1541A>T (p.Asn514Ile) c.1727A>T (p.Asn576Ile) c.1256A>T (p.Asn419Ile) c.*90A>T (n.*90A>T) | |
| 17 | g.58273494T>C | CA400369935 | MPO | n.874A>G c.666A>G (n.666A>G) n.581A>G c.1541A>G (p.Asn514Ser) c.1727A>G (p.Asn576Ser) c.1256A>G (p.Asn419Ser) c.*90A>G (n.*90A>G) | gnomAD v4 |
| 17 | g.58273494T>G | CA400369937 | MPO | n.874A>C c.666A>C (n.666A>C) n.581A>C c.1541A>C (p.Asn514Thr) c.1727A>C (p.Asn576Thr) c.1256A>C (p.Asn419Thr) c.*90A>C (n.*90A>C) | |
| 17 | g.58273495T>A | CA400369939 | MPO | n.873A>T c.665A>T (n.665A>T) n.580A>T c.1540A>T (p.Asn514Tyr) c.1726A>T (p.Asn576Tyr) c.1255A>T (p.Asn419Tyr) c.*89A>T (n.*89A>T) | |
| 17 | g.58273495T>C | CA400369941 | MPO | n.873A>G c.665A>G (n.665A>G) n.580A>G c.1540A>G (p.Asn514Asp) c.1726A>G (p.Asn576Asp) c.1255A>G (p.Asn419Asp) c.*89A>G (n.*89A>G) | |
| 17 | g.58273495T>G | CA292012225 | MPO | n.873A>C c.665A>C (n.665A>C) n.580A>C c.1540A>C (p.Asn514His) c.1726A>C (p.Asn576His) c.1255A>C (p.Asn419His) c.*89A>C (n.*89A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.58273495T= | CA2267631278 | MPO | n.873A= c.665A= (n.665A=) n.580A= c.1540A= (p.Asn514=) c.1726A= (p.Asn576=) c.1255A= (p.Asn419=) c.*89A= (n.*89A=) | |
| 17 | g.58273496G>A | CA501022521 | MPO | n.872C>T c.664C>T (n.664C>T) n.579C>T c.1539C>T (p.Asp513=) c.1725C>T (p.Asp575=) c.1254C>T (p.Asp418=) c.*88C>T (n.*88C>T) | dbSNP gnomAD v2 gnomAD v3 |
| 17 | g.58273496G>C | CA400369943 | MPO | n.872C>G c.664C>G (n.664C>G) n.579C>G c.1539C>G (p.Asp513Glu) c.1725C>G (p.Asp575Glu) c.1254C>G (p.Asp418Glu) c.*88C>G (n.*88C>G) | |
| 17 | g.58273496G= | CA2267631279 | MPO | n.872C= c.664C= (n.664C=) n.579C= c.1539C= (p.Asp513=) c.1725C= (p.Asp575=) c.1254C= (p.Asp418=) c.*88C= (n.*88C=) | |
| 17 | g.58273496G>T | CA400369944 | MPO | n.872C>A c.664C>A (n.664C>A) n.579C>A c.1539C>A (p.Asp513Glu) c.1725C>A (p.Asp575Glu) c.1254C>A (p.Asp418Glu) c.*88C>A (n.*88C>A) | |
| 17 | g.58273497T>A | CA400369947 | MPO | n.871A>T c.663A>T (n.663A>T) n.578A>T c.1538A>T (p.Asp513Val) c.1724A>T (p.Asp575Val) c.1253A>T (p.Asp418Val) c.*87A>T (n.*87A>T) | |
| 17 | g.58273497T>C | CA8670603 | MPO | n.871A>G c.663A>G (n.663A>G) n.578A>G c.1538A>G (p.Asp513Gly) c.1724A>G (p.Asp575Gly) c.1253A>G (p.Asp418Gly) c.*87A>G (n.*87A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273497T>G | CA400369949 | MPO | n.871A>C c.663A>C (n.663A>C) n.578A>C c.1538A>C (p.Asp513Ala) c.1724A>C (p.Asp575Ala) c.1253A>C (p.Asp418Ala) c.*87A>C (n.*87A>C) | |
| 17 | g.58273497T= | CA2267631280 | MPO | n.871A= c.663A= (n.663A=) n.578A= c.1538A= (p.Asp513=) c.1724A= (p.Asp575=) c.1253A= (p.Asp418=) c.*87A= (n.*87A=) | |
| 17 | g.58273498C>A | CA400369953 | MPO | n.870G>T c.662G>T (n.662G>T) n.577G>T c.1537G>T (p.Asp513Tyr) c.1723G>T (p.Asp575Tyr) c.1252G>T (p.Asp418Tyr) c.*86G>T (n.*86G>T) | |
| 17 | g.58273498C>G | CA400369955 | MPO | n.870G>C c.662G>C (n.662G>C) n.577G>C c.1537G>C (p.Asp513His) c.1723G>C (p.Asp575His) c.1252G>C (p.Asp418His) c.*86G>C (n.*86G>C) | |
| 17 | g.58273498C>T | CA400369952 | MPO | n.870G>A c.662G>A (n.662G>A) n.577G>A c.1537G>A (p.Asp513Asn) c.1723G>A (p.Asp575Asn) c.1252G>A (p.Asp418Asn) c.*86G>A (n.*86G>A) | COSMIC COSMIC |
| 17 | g.58273499C>A | CA501022533 | MPO | n.869G>T c.661G>T (n.661G>T) n.576G>T c.1536G>T (p.Leu512=) c.1722G>T (p.Leu574=) c.1251G>T (p.Leu417=) c.*85G>T (n.*85G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.58273499C= | CA2267631281 | MPO | n.869G= c.661G= (n.661G=) n.576G= c.1536G= (p.Leu512=) c.1722G= (p.Leu574=) c.1251G= (p.Leu417=) c.*85G= (n.*85G=) | |
| 17 | g.58273499C>G | CA501022536 | MPO | n.869G>C c.661G>C (n.661G>C) n.576G>C c.1536G>C (p.Leu512=) c.1722G>C (p.Leu574=) c.1251G>C (p.Leu417=) c.*85G>C (n.*85G>C) | |
| 17 | g.58273499C>T | CA501022538 | MPO | n.869G>A c.661G>A (n.661G>A) n.576G>A c.1536G>A (p.Leu512=) c.1722G>A (p.Leu574=) c.1251G>A (p.Leu417=) c.*85G>A (n.*85G>A) | COSMIC COSMIC |
| 17 | g.58273500A= | CA2267631282 | MPO | n.868T= c.660T= (n.660T=) n.575T= c.1535T= (p.Leu512=) c.1721T= (p.Leu574=) c.1250T= (p.Leu417=) c.*84T= (n.*84T=) | |
| 17 | g.58273500A>C | CA400369957 | MPO | n.868T>G c.660T>G (n.660T>G) n.575T>G c.1535T>G (p.Leu512Arg) c.1721T>G (p.Leu574Arg) c.1250T>G (p.Leu417Arg) c.*84T>G (n.*84T>G) | |
| 17 | g.58273500A>G | CA400369959 | MPO | n.868T>C c.660T>C (n.660T>C) n.575T>C c.1535T>C (p.Leu512Pro) c.1721T>C (p.Leu574Pro) c.1250T>C (p.Leu417Pro) c.*84T>C (n.*84T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273500A>T | CA400369960 | MPO | n.868T>A c.660T>A (n.660T>A) n.575T>A c.1535T>A (p.Leu512Gln) c.1721T>A (p.Leu574Gln) c.1250T>A (p.Leu417Gln) c.*84T>A (n.*84T>A) | |
| 17 | g.58273501G>A | CA501022546 | MPO | n.867C>T c.659C>T (n.659C>T) n.574C>T c.1534C>T (p.Leu512=) c.1720C>T (p.Leu574=) c.1249C>T (p.Leu417=) c.*83C>T (n.*83C>T) | |
| 17 | g.58273501G>C | CA400369961 | MPO | n.867C>G c.659C>G (n.659C>G) n.574C>G c.1534C>G (p.Leu512Val) c.1720C>G (p.Leu574Val) c.1249C>G (p.Leu417Val) c.*83C>G (n.*83C>G) | |
| 17 | g.58273501G>T | CA400369963 | MPO | n.867C>A c.659C>A (n.659C>A) n.574C>A c.1534C>A (p.Leu512Met) c.1720C>A (p.Leu574Met) c.1249C>A (p.Leu417Met) c.*83C>A (n.*83C>A) | |
| 17 | g.58273502G>A | CA501022549 | MPO | n.866C>T c.658C>T (n.658C>T) n.573C>T c.1533C>T (p.Arg511=) c.1719C>T (p.Arg573=) c.1248C>T (p.Arg416=) c.*82C>T (n.*82C>T) | |
| 17 | g.58273502G>C | CA501022551 | MPO | n.866C>G c.658C>G (n.658C>G) n.573C>G c.1533C>G (p.Arg511=) c.1719C>G (p.Arg573=) c.1248C>G (p.Arg416=) c.*82C>G (n.*82C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273502G= | CA2267631283 | MPO | n.866C= c.658C= (n.658C=) n.573C= c.1533C= (p.Arg511=) c.1719C= (p.Arg573=) c.1248C= (p.Arg416=) c.*82C= (n.*82C=) | |
| 17 | g.58273502G>T | CA501022553 | MPO | n.866C>A c.658C>A (n.658C>A) n.573C>A c.1533C>A (p.Arg511=) c.1719C>A (p.Arg573=) c.1248C>A (p.Arg416=) c.*82C>A (n.*82C>A) | |
| 17 | g.58273503C>A | CA400369964 | MPO | n.865G>T c.657G>T (n.657G>T) n.572G>T c.1532G>T (p.Arg511Leu) c.1718G>T (p.Arg573Leu) c.1247G>T (p.Arg416Leu) c.*81G>T (n.*81G>T) | gnomAD v4 |
| 17 | g.58273503C= | CA2267631284 | MPO | n.865G= c.657G= (n.657G=) n.572G= c.1532G= (p.Arg511=) c.1718G= (p.Arg573=) c.1247G= (p.Arg416=) c.*81G= (n.*81G=) | |
| 17 | g.58273503C>G | CA400369965 | MPO | n.865G>C c.657G>C (n.657G>C) n.572G>C c.1532G>C (p.Arg511Pro) c.1718G>C (p.Arg573Pro) c.1247G>C (p.Arg416Pro) c.*81G>C (n.*81G>C) | |
| 17 | g.58273503C>T | CA8670604 | MPO | n.865G>A c.657G>A (n.657G>A) n.572G>A c.1532G>A (p.Arg511His) c.1718G>A (p.Arg573His) c.1247G>A (p.Arg416His) c.*81G>A (n.*81G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273504G>A | CA8670605 | MPO | n.864C>T c.656C>T (n.656C>T) n.571C>T c.1531C>T (p.Arg511Cys) c.1717C>T (p.Arg573Cys) c.1246C>T (p.Arg416Cys) c.*80C>T (n.*80C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.58273504G>C | CA400369968 | MPO | n.864C>G c.656C>G (n.656C>G) n.571C>G c.1531C>G (p.Arg511Gly) c.1717C>G (p.Arg573Gly) c.1246C>G (p.Arg416Gly) c.*80C>G (n.*80C>G) | |
| 17 | g.58273504G= | CA2267631285 | MPO | n.864C= c.656C= (n.656C=) n.571C= c.1531C= (p.Arg511=) c.1717C= (p.Arg573=) c.1246C= (p.Arg416=) c.*80C= (n.*80C=) | |
| 17 | g.58273504G>T | CA400369969 | MPO | n.864C>A c.656C>A (n.656C>A) n.571C>A c.1531C>A (p.Arg511Ser) c.1717C>A (p.Arg573Ser) c.1246C>A (p.Arg416Ser) c.*80C>A (n.*80C>A) | |
| 17 | g.58273505G>A | CA501022563 | MPO | n.863C>T c.655C>T (n.655C>T) n.570C>T c.1530C>T (p.Phe510=) c.1716C>T (p.Phe572=) c.1245C>T (p.Phe415=) c.*79C>T (n.*79C>T) | COSMIC COSMIC |
| 17 | g.58273505G>C | CA400369970 | MPO | n.863C>G c.655C>G (n.655C>G) n.570C>G c.1530C>G (p.Phe510Leu) c.1716C>G (p.Phe572Leu) c.1245C>G (p.Phe415Leu) c.*79C>G (n.*79C>G) | |
| 17 | g.58273505G>T | CA400369971 | MPO | n.863C>A c.655C>A (n.655C>A) n.570C>A c.1530C>A (p.Phe510Leu) c.1716C>A (p.Phe572Leu) c.1245C>A (p.Phe415Leu) c.*79C>A (n.*79C>A) | |
| 17 | g.58273506A>C | CA400369977 | MPO | n.862T>G c.654T>G (n.654T>G) n.569T>G c.1529T>G (p.Phe510Cys) c.1715T>G (p.Phe572Cys) c.1244T>G (p.Phe415Cys) c.*78T>G (n.*78T>G) | |
| 17 | g.58273506A>G | CA400369975 | MPO | n.862T>C c.654T>C (n.654T>C) n.569T>C c.1529T>C (p.Phe510Ser) c.1715T>C (p.Phe572Ser) c.1244T>C (p.Phe415Ser) c.*78T>C (n.*78T>C) | |
| 17 | g.58273506A>T | CA400369973 | MPO | n.862T>A c.654T>A (n.654T>A) n.569T>A c.1529T>A (p.Phe510Tyr) c.1715T>A (p.Phe572Tyr) c.1244T>A (p.Phe415Tyr) c.*78T>A (n.*78T>A) | |
| 17 | g.58273507A= | CA2267631286 | MPO | n.861T= c.653T= (n.653T=) n.568T= c.1528T= (p.Phe510=) c.1714T= (p.Phe572=) c.1243T= (p.Phe415=) c.*77T= (n.*77T=) | |
| 17 | g.58273507A>C | CA400369979 | MPO | n.861T>G c.653T>G (n.653T>G) n.568T>G c.1528T>G (p.Phe510Val) c.1714T>G (p.Phe572Val) c.1243T>G (p.Phe415Val) c.*77T>G (n.*77T>G) | |
| 17 | g.58273507A>G | CA400369981 | MPO | n.861T>C c.653T>C (n.653T>C) n.568T>C c.1528T>C (p.Phe510Leu) c.1714T>C (p.Phe572Leu) c.1243T>C (p.Phe415Leu) c.*77T>C (n.*77T>C) | ClinVar |
| 17 | g.58273507A>T | CA400369983 | MPO | n.861T>A c.653T>A (n.653T>A) n.568T>A c.1528T>A (p.Phe510Ile) c.1714T>A (p.Phe572Ile) c.1243T>A (p.Phe415Ile) c.*77T>A (n.*77T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.58273508C>A | CA400369985 | MPO | n.860G>T c.652G>T (n.652G>T) n.567G>T c.1527G>T (p.Met509Ile) c.1713G>T (p.Met571Ile) c.1242G>T (p.Met414Ile) c.*76G>T (n.*76G>T) | |
| 17 | g.58273508C= | CA2267631287 | MPO | n.860G= c.652G= (n.652G=) n.567G= c.1527G= (p.Met509=) c.1713G= (p.Met571=) c.1242G= (p.Met414=) c.*76G= (n.*76G=) | |
| 17 | g.58273508C>G | CA400369987 | MPO | n.860G>C c.652G>C (n.652G>C) n.567G>C c.1527G>C (p.Met509Ile) c.1713G>C (p.Met571Ile) c.1242G>C (p.Met414Ile) c.*76G>C (n.*76G>C) | |
| 17 | g.58273508C>T | CA8670606 | MPO | n.860G>A c.652G>A (n.652G>A) n.567G>A c.1527G>A (p.Met509Ile) c.1713G>A (p.Met571Ile) c.1242G>A (p.Met414Ile) c.*76G>A (n.*76G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58273509A= | CA2267631288 | MPO | n.859T= c.651T= (n.651T=) n.566T= c.1526T= (p.Met509=) c.1712T= (p.Met571=) c.1241T= (p.Met414=) c.*75T= (n.*75T=) | |
| 17 | g.58273509A>C | CA400369989 | MPO | n.859T>G c.651T>G (n.651T>G) n.566T>G c.1526T>G (p.Met509Arg) c.1712T>G (p.Met571Arg) c.1241T>G (p.Met414Arg) c.*75T>G (n.*75T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.58273509A>G | CA400369991 | MPO | n.859T>C c.651T>C (n.651T>C) n.566T>C c.1526T>C (p.Met509Thr) c.1712T>C (p.Met571Thr) c.1241T>C (p.Met414Thr) c.*75T>C (n.*75T>C) | gnomAD v4 |
| 17 | g.58273509A>T | CA400369993 | MPO | n.859T>A c.651T>A (n.651T>A) n.566T>A c.1526T>A (p.Met509Lys) c.1712T>A (p.Met571Lys) c.1241T>A (p.Met414Lys) c.*75T>A (n.*75T>A) | |
| 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) |