Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
17 | g.58273611T>A | CA400370380 | MPO | n.757A>T c.549A>T (p.Val183=) n.464A>T c.1424A>T (p.Tyr475Phe) c.1610A>T (p.Tyr537Phe) c.1139A>T (p.Tyr380Phe) c.1449A>T (p.Val483=) | |
17 | g.58273611T>C | CA400370381 | MPO | n.757A>G c.549A>G (p.Val183=) n.464A>G c.1424A>G (p.Tyr475Cys) c.1610A>G (p.Tyr537Cys) c.1139A>G (p.Tyr380Cys) c.1449A>G (p.Val483=) | |
17 | g.58273611T>G | CA400370382 | MPO | n.757A>C c.549A>C (p.Val183=) n.464A>C c.1424A>C (p.Tyr475Ser) c.1610A>C (p.Tyr537Ser) c.1139A>C (p.Tyr380Ser) c.1449A>C (p.Val483=) | |
17 | g.58273612A= | CA2267631340 | MPO | n.756T= c.548T= (p.Val183=) n.463T= c.1423T= (p.Tyr475=) c.1609T= (p.Tyr537=) c.1138T= (p.Tyr380=) c.1448T= (p.Val483=) | |
17 | g.58273612A>C | CA400370384 | MPO | n.756T>G c.548T>G (p.Val183Gly) n.463T>G c.1423T>G (p.Tyr475Asp) c.1609T>G (p.Tyr537Asp) c.1138T>G (p.Tyr380Asp) c.1448T>G (p.Val483Gly) | |
17 | g.58273612A>G | CA8670642 | MPO | n.756T>C c.548T>C (p.Val183Ala) n.463T>C c.1423T>C (p.Tyr475His) c.1609T>C (p.Tyr537His) c.1138T>C (p.Tyr380His) c.1448T>C (p.Val483Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273612A>T | CA400370387 | MPO | n.756T>A c.548T>A (p.Val183Glu) n.463T>A c.1423T>A (p.Tyr475Asn) c.1609T>A (p.Tyr537Asn) c.1138T>A (p.Tyr380Asn) c.1448T>A (p.Val483Glu) | |
17 | g.58273613C>A | CA400370388 | MPO | n.755G>T c.547G>T (p.Val183Leu) n.462G>T c.1422G>T (p.Lys474Asn) c.1608G>T (p.Lys536Asn) c.1137G>T (p.Lys379Asn) c.1447G>T (p.Val483Leu) | |
17 | g.58273613C= | CA2267631341 | MPO | n.755G= c.547G= (p.Val183=) n.462G= c.1422G= (p.Lys474=) c.1608G= (p.Lys536=) c.1137G= (p.Lys379=) c.1447G= (p.Val483=) | |
17 | g.58273613C>G | CA400370389 | MPO | n.755G>C c.547G>C (p.Val183Leu) n.462G>C c.1422G>C (p.Lys474Asn) c.1608G>C (p.Lys536Asn) c.1137G>C (p.Lys379Asn) c.1447G>C (p.Val483Leu) | |
17 | g.58273613C>T | CA501023135 | MPO | n.755G>A c.547G>A (p.Val183Ile) n.462G>A c.1422G>A (p.Lys474=) c.1608G>A (p.Lys536=) c.1137G>A (p.Lys379=) c.1447G>A (p.Val483Ile) | dbSNP gnomAD v4 |
17 | g.58273614T>A | CA400370392 | MPO | n.754A>T c.546A>T (p.Glu182Asp) n.461A>T c.1421A>T (p.Lys474Met) c.1607A>T (p.Lys536Met) c.1136A>T (p.Lys379Met) c.1446A>T (p.Glu482Asp) | dbSNP |
17 | g.58273614T>C | CA400370394 | MPO | n.754A>G c.546A>G (p.Glu182=) n.461A>G c.1421A>G (p.Lys474Arg) c.1607A>G (p.Lys536Arg) c.1136A>G (p.Lys379Arg) c.1446A>G (p.Glu482=) | gnomAD v4 |
17 | g.58273614T>G | CA400370395 | MPO | n.754A>C c.546A>C (p.Glu182Asp) n.461A>C c.1421A>C (p.Lys474Thr) c.1607A>C (p.Lys536Thr) c.1136A>C (p.Lys379Thr) c.1446A>C (p.Glu482Asp) | |
17 | g.58273614T= | CA2267631342 | MPO | n.754A= c.546A= (p.Glu182=) n.461A= c.1421A= (p.Lys474=) c.1607A= (p.Lys536=) c.1136A= (p.Lys379=) c.1446A= (p.Glu482=) | |
17 | g.58273615T>A | CA400370397 | MPO | n.753A>T c.545A>T (p.Glu182Val) n.460A>T c.1420A>T (p.Lys474Ter) c.1606A>T (p.Lys536Ter) c.1135A>T (p.Lys379Ter) c.1445A>T (p.Glu482Val) | |
17 | g.58273615T>C | CA400370398 | MPO | n.753A>G c.545A>G (p.Glu182Gly) n.460A>G c.1420A>G (p.Lys474Glu) c.1606A>G (p.Lys536Glu) c.1135A>G (p.Lys379Glu) c.1445A>G (p.Glu482Gly) | |
17 | g.58273615T>G | CA400370400 | MPO | n.753A>C c.545A>C (p.Glu182Ala) n.460A>C c.1420A>C (p.Lys474Gln) c.1606A>C (p.Lys536Gln) c.1135A>C (p.Lys379Gln) c.1445A>C (p.Glu482Ala) | |
17 | g.58273616C>A | CA400370402 | MPO | n.752G>T c.544G>T (p.Glu182Ter) n.459G>T c.1419G>T (p.Arg473Ser) c.1605G>T (p.Arg535Ser) c.1134G>T (p.Arg378Ser) c.1444G>T (p.Glu482Ter) | |
17 | g.58273616C>G | CA400370403 | MPO | n.752G>C c.544G>C (p.Glu182Gln) n.459G>C c.1419G>C (p.Arg473Ser) c.1605G>C (p.Arg535Ser) c.1134G>C (p.Arg378Ser) c.1444G>C (p.Glu482Gln) | |
17 | g.58273616C>T | CA501023147 | MPO | n.752G>A c.544G>A (p.Glu182Lys) n.459G>A c.1419G>A (p.Arg473=) c.1605G>A (p.Arg535=) c.1134G>A (p.Arg378=) c.1444G>A (p.Glu482Lys) | |
17 | g.58273617C>A | CA400370405 | MPO | n.751G>T c.543G>T (p.Glu181Asp) n.458G>T c.1418G>T (p.Arg473Met) c.1604G>T (p.Arg535Met) c.1133G>T (p.Arg378Met) c.1443G>T (p.Glu481Asp) | |
17 | g.58273617C= | CA2267631343 | MPO | n.751G= c.543G= (p.Glu181=) n.458G= c.1418G= (p.Arg473=) c.1604G= (p.Arg535=) c.1133G= (p.Arg378=) c.1443G= (p.Glu481=) | |
17 | g.58273617C>G | CA400370407 | MPO | n.751G>C c.543G>C (p.Glu181Asp) n.458G>C c.1418G>C (p.Arg473Thr) c.1604G>C (p.Arg535Thr) c.1133G>C (p.Arg378Thr) c.1443G>C (p.Glu481Asp) | |
17 | g.58273617C>T | CA400370408 | MPO | n.751G>A c.543G>A (p.Glu181=) n.458G>A c.1418G>A (p.Arg473Lys) c.1604G>A (p.Arg535Lys) c.1133G>A (p.Arg378Lys) c.1443G>A (p.Glu481=) | dbSNP gnomAD v4 |
17 | g.58273618T>A | CA400370411 | MPO | n.750A>T c.542A>T (p.Glu181Val) n.457A>T c.1417A>T (p.Arg473Trp) c.1603A>T (p.Arg535Trp) c.1132A>T (p.Arg378Trp) c.1442A>T (p.Glu481Val) | |
17 | g.58273618T>C | CA400370409 | MPO | n.750A>G c.542A>G (p.Glu181Gly) n.457A>G c.1417A>G (p.Arg473Gly) c.1603A>G (p.Arg535Gly) c.1132A>G (p.Arg378Gly) c.1442A>G (p.Glu481Gly) | |
17 | g.58273618T>G | CA501023162 | MPO | n.750A>C c.542A>C (p.Glu181Ala) n.457A>C c.1417A>C (p.Arg473=) c.1603A>C (p.Arg535=) c.1132A>C (p.Arg378=) c.1442A>C (p.Glu481Ala) | |
17 | g.58273619C>A | CA400370413 | MPO | n.749G>T c.541G>T (p.Glu181Ter) n.456G>T c.1416G>T (p.Met472Ile) c.1602G>T (p.Met534Ile) c.1131G>T (p.Met377Ile) c.1441G>T (p.Glu481Ter) | |
17 | g.58273619C>G | CA400370415 | MPO | n.749G>C c.541G>C (p.Glu181Gln) n.456G>C c.1416G>C (p.Met472Ile) c.1602G>C (p.Met534Ile) c.1131G>C (p.Met377Ile) c.1441G>C (p.Glu481Gln) | |
17 | g.58273619C>T | CA400370416 | MPO | n.749G>A c.541G>A (p.Glu181Lys) n.456G>A c.1416G>A (p.Met472Ile) c.1602G>A (p.Met534Ile) c.1131G>A (p.Met377Ile) c.1441G>A (p.Glu481Lys) | |
17 | g.58273620A= | CA2267631344 | MPO | n.748T= c.540T= (p.His180=) n.455T= c.1415T= (p.Met472=) c.1601T= (p.Met534=) c.1130T= (p.Met377=) c.1440T= (p.His480=) | |
17 | g.58273620A>C | CA400370417 | MPO | n.748T>G c.540T>G (p.His180Gln) n.455T>G c.1415T>G (p.Met472Arg) c.1601T>G (p.Met534Arg) c.1130T>G (p.Met377Arg) c.1440T>G (p.His480Gln) | dbSNP gnomAD v4 |
17 | g.58273620A>G | CA8670643 | MPO | n.748T>C c.540T>C (p.His180=) n.455T>C c.1415T>C (p.Met472Thr) c.1601T>C (p.Met534Thr) c.1130T>C (p.Met377Thr) c.1440T>C (p.His480=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273620A>T | CA400370419 | MPO | n.748T>A c.540T>A (p.His180Gln) n.455T>A c.1415T>A (p.Met472Lys) c.1601T>A (p.Met534Lys) c.1130T>A (p.Met377Lys) c.1440T>A (p.His480Gln) | gnomAD v4 |
17 | g.58273621T>A | CA400370420 | MPO | n.747A>T c.539A>T (p.His180Leu) n.454A>T c.1414A>T (p.Met472Leu) c.1600A>T (p.Met534Leu) c.1129A>T (p.Met377Leu) c.1439A>T (p.His480Leu) | |
17 | g.58273621T>C | CA8670644 | MPO | n.747A>G c.539A>G (p.His180Arg) n.454A>G c.1414A>G (p.Met472Val) c.1600A>G (p.Met534Val) c.1129A>G (p.Met377Val) c.1439A>G (p.His480Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273621T>G | CA400370422 | MPO | n.747A>C c.539A>C (p.His180Pro) n.454A>C c.1414A>C (p.Met472Leu) c.1600A>C (p.Met534Leu) c.1129A>C (p.Met377Leu) c.1439A>C (p.His480Pro) | |
17 | g.58273621T= | CA2267631345 | MPO | n.747A= c.539A= (p.His180=) n.454A= c.1414A= (p.Met472=) c.1600A= (p.Met534=) c.1129A= (p.Met377=) c.1439A= (p.His480=) | |
17 | g.58273622G>A | CA501023192 | MPO | n.746C>T c.538C>T (p.His180Tyr) n.453C>T c.1413C>T (p.Ala471=) c.1599C>T (p.Ala533=) c.1128C>T (p.Ala376=) c.1438C>T (p.His480Tyr) | |
17 | g.58273622G>C | CA501023190 | MPO | n.746C>G c.538C>G (p.His180Asp) n.453C>G c.1413C>G (p.Ala471=) c.1599C>G (p.Ala533=) c.1128C>G (p.Ala376=) c.1438C>G (p.His480Asp) | |
17 | g.58273622G>T | CA501023186 | MPO | n.746C>A c.538C>A (p.His180Asn) n.453C>A c.1413C>A (p.Ala471=) c.1599C>A (p.Ala533=) c.1128C>A (p.Ala376=) c.1438C>A (p.His480Asn) | |
17 | g.58273623G>A | CA400370424 | MPO | n.745C>T c.537C>T (p.Gly179=) n.452C>T c.1412C>T (p.Ala471Val) c.1598C>T (p.Ala533Val) c.1127C>T (p.Ala376Val) c.1437C>T (p.Gly479=) | |
17 | g.58273623G>C | CA400370426 | MPO | n.745C>G c.537C>G (p.Gly179=) n.452C>G c.1412C>G (p.Ala471Gly) c.1598C>G (p.Ala533Gly) c.1127C>G (p.Ala376Gly) c.1437C>G (p.Gly479=) | |
17 | g.58273623G>T | CA400370427 | MPO | n.745C>A c.537C>A (p.Gly179=) n.452C>A c.1412C>A (p.Ala471Asp) c.1598C>A (p.Ala533Asp) c.1127C>A (p.Ala376Asp) c.1437C>A (p.Gly479=) | |
17 | g.58273624C>A | CA400370431 | MPO | n.744G>T c.536G>T (p.Gly179Val) n.451G>T c.1411G>T (p.Ala471Ser) c.1597G>T (p.Ala533Ser) c.1126G>T (p.Ala376Ser) c.1436G>T (p.Gly479Val) | |
17 | g.58273624C>G | CA400370433 | MPO | n.744G>C c.536G>C (p.Gly179Ala) n.451G>C c.1411G>C (p.Ala471Pro) c.1597G>C (p.Ala533Pro) c.1126G>C (p.Ala376Pro) c.1436G>C (p.Gly479Ala) | |
17 | g.58273624C>T | CA400370429 | MPO | n.744G>A c.536G>A (p.Gly179Asp) n.451G>A c.1411G>A (p.Ala471Thr) c.1597G>A (p.Ala533Thr) c.1126G>A (p.Ala376Thr) c.1436G>A (p.Gly479Asp) | COSMIC COSMIC |
17 | g.58273625C>A | CA8670646 | MPO | n.743G>T c.535G>T (p.Gly179Cys) n.450G>T c.1410G>T (p.Thr470=) c.1596G>T (p.Thr532=) c.1125G>T (p.Thr375=) c.1435G>T (p.Gly479Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273625C= | CA2267631346 | MPO | n.743G= c.535G= (p.Gly179=) n.450G= c.1410G= (p.Thr470=) c.1596G= (p.Thr532=) c.1125G= (p.Thr375=) c.1435G= (p.Gly479=) | |
17 | g.58273625C>G | CA501023212 | MPO | n.743G>C c.535G>C (p.Gly179Arg) n.450G>C c.1410G>C (p.Thr470=) c.1596G>C (p.Thr532=) c.1125G>C (p.Thr375=) c.1435G>C (p.Gly479Arg) | |
17 | g.58273625C>T | CA8670645 | MPO | n.743G>A c.535G>A (p.Gly179Ser) n.450G>A c.1410G>A (p.Thr470=) c.1596G>A (p.Thr532=) c.1125G>A (p.Thr375=) c.1435G>A (p.Gly479Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273626G>A | CA400370436 | MPO | n.742C>T c.534C>T (p.Asn178=) n.449C>T c.1409C>T (p.Thr470Met) c.1595C>T (p.Thr532Met) c.1124C>T (p.Thr375Met) c.1434C>T (p.Asn478=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273626G>C | CA400370437 | MPO | n.742C>G c.534C>G (p.Asn178Lys) n.449C>G c.1409C>G (p.Thr470Arg) c.1595C>G (p.Thr532Arg) c.1124C>G (p.Thr375Arg) c.1434C>G (p.Asn478Lys) | gnomAD v4 |
17 | g.58273626G= | CA2267631347 | MPO | n.742C= c.534C= (p.Asn178=) n.449C= c.1409C= (p.Thr470=) c.1595C= (p.Thr532=) c.1124C= (p.Thr375=) c.1434C= (p.Asn478=) | |
17 | g.58273626G>T | CA400370439 | MPO | n.742C>A c.534C>A (p.Asn178Lys) n.449C>A c.1409C>A (p.Thr470Lys) c.1595C>A (p.Thr532Lys) c.1124C>A (p.Thr375Lys) c.1434C>A (p.Asn478Lys) | dbSNP gnomAD v2 |
17 | g.58273627T>A | CA400370444 | MPO | n.741A>T c.533A>T (p.Asn178Ile) n.448A>T c.1408A>T (p.Thr470Ser) c.1594A>T (p.Thr532Ser) c.1123A>T (p.Thr375Ser) c.1433A>T (p.Asn478Ile) | |
17 | g.58273627T>C | CA400370441 | MPO | n.741A>G c.533A>G (p.Asn178Ser) n.448A>G c.1408A>G (p.Thr470Ala) c.1594A>G (p.Thr532Ala) c.1123A>G (p.Thr375Ala) c.1433A>G (p.Asn478Ser) | |
17 | g.58273627T>G | CA400370442 | MPO | n.741A>C c.533A>C (p.Asn178Thr) n.448A>C c.1408A>C (p.Thr470Pro) c.1594A>C (p.Thr532Pro) c.1123A>C (p.Thr375Pro) c.1433A>C (p.Asn478Thr) | |
17 | g.58273628T>A | CA501023507 | MPO | n.740A>T c.532A>T (p.Asn178Tyr) n.447A>T c.1407A>T (p.Pro469=) c.1593A>T (p.Pro531=) c.1122A>T (p.Pro374=) c.1432A>T (p.Asn478Tyr) | |
17 | g.58273628T>C | CA501023512 | MPO | n.740A>G c.532A>G (p.Asn178Asp) n.447A>G c.1407A>G (p.Pro469=) c.1593A>G (p.Pro531=) c.1122A>G (p.Pro374=) c.1432A>G (p.Asn478Asp) | gnomAD v4 |
17 | g.58273628T>G | CA501023509 | MPO | n.740A>C c.532A>C (p.Asn178His) n.447A>C c.1407A>C (p.Pro469=) c.1593A>C (p.Pro531=) c.1122A>C (p.Pro374=) c.1432A>C (p.Asn478His) | |
17 | g.58273629G>A | CA400370445 | MPO | n.739C>T c.531C>T (p.Ala177=) n.446C>T c.1406C>T (p.Pro469Leu) c.1592C>T (p.Pro531Leu) c.1121C>T (p.Pro374Leu) c.1431C>T (p.Ala477=) | |
17 | g.58273629G>C | CA400370447 | MPO | n.739C>G c.531C>G (p.Ala177=) n.446C>G c.1406C>G (p.Pro469Arg) c.1592C>G (p.Pro531Arg) c.1121C>G (p.Pro374Arg) c.1431C>G (p.Ala477=) | |
17 | g.58273629G>T | CA400370449 | MPO | n.739C>A c.531C>A (p.Ala177=) n.446C>A c.1406C>A (p.Pro469Gln) c.1592C>A (p.Pro531Gln) c.1121C>A (p.Pro374Gln) c.1431C>A (p.Ala477=) | |
17 | g.58273630G>A | CA400370450 | MPO | n.738C>T c.530C>T (p.Ala177Val) n.445C>T c.1405C>T (p.Pro469Ser) c.1591C>T (p.Pro531Ser) c.1120C>T (p.Pro374Ser) c.1430C>T (p.Ala477Val) | |
17 | g.58273630G>C | CA400370452 | MPO | n.738C>G c.530C>G (p.Ala177Gly) n.445C>G c.1405C>G (p.Pro469Ala) c.1591C>G (p.Pro531Ala) c.1120C>G (p.Pro374Ala) c.1430C>G (p.Ala477Gly) | |
17 | g.58273630G>T | CA400370453 | MPO | n.738C>A c.530C>A (p.Ala177Asp) n.445C>A c.1405C>A (p.Pro469Thr) c.1591C>A (p.Pro531Thr) c.1120C>A (p.Pro374Thr) c.1430C>A (p.Ala477Asp) | |
17 | g.58273631C>A | CA501023525 | MPO | n.737G>T c.529G>T (p.Ala177Ser) n.444G>T c.1404G>T (p.Gly468=) c.1590G>T (p.Gly530=) c.1119G>T (p.Gly373=) c.1429G>T (p.Ala477Ser) | gnomAD v4 |
17 | g.58273631C= | CA2267631348 | MPO | n.737G= c.529G= (p.Ala177=) n.444G= c.1404G= (p.Gly468=) c.1590G= (p.Gly530=) c.1119G= (p.Gly373=) c.1429G= (p.Ala477=) | |
17 | g.58273631C>G | CA501023526 | MPO | n.737G>C c.529G>C (p.Ala177Pro) n.444G>C c.1404G>C (p.Gly468=) c.1590G>C (p.Gly530=) c.1119G>C (p.Gly373=) c.1429G>C (p.Ala477Pro) | |
17 | g.58273631C>T | CA501023528 | MPO | n.737G>A c.529G>A (p.Ala177Thr) n.444G>A c.1404G>A (p.Gly468=) c.1590G>A (p.Gly530=) c.1119G>A (p.Gly373=) c.1429G>A (p.Ala477Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.58273634del | CA2513739294 | MPO | n.737del c.529del (p.Ala177ProfsTer?) n.444del c.1404del (p.Pro469GlnfsTer4) c.1590del (p.Pro531GlnfsTer4) c.1119del (p.Pro374GlnfsTer4) c.1429del (p.Ala477ProfsTer?) | dbSNP |
17 | g.58273632C>A | CA400370457 | MPO | n.736G>T c.528G>T (p.Gly176=) n.443G>T c.1403G>T (p.Gly468Val) c.1589G>T (p.Gly530Val) c.1118G>T (p.Gly373Val) c.1428G>T (p.Gly476=) | |
17 | g.58273632C>G | CA400370458 | MPO | n.736G>C c.528G>C (p.Gly176=) n.443G>C c.1403G>C (p.Gly468Ala) c.1589G>C (p.Gly530Ala) c.1118G>C (p.Gly373Ala) c.1428G>C (p.Gly476=) | |
17 | g.58273632C>T | CA400370455 | MPO | n.736G>A c.528G>A (p.Gly176=) n.443G>A c.1403G>A (p.Gly468Glu) c.1589G>A (p.Gly530Glu) c.1118G>A (p.Gly373Glu) c.1428G>A (p.Gly476=) | |
17 | g.58273633C>A | CA400370462 | MPO | n.735G>T c.527G>T (p.Gly176Val) n.442G>T c.1402G>T (p.Gly468Trp) c.1588G>T (p.Gly530Trp) c.1117G>T (p.Gly373Trp) c.1427G>T (p.Gly476Val) | |
17 | g.58273633C>G | CA400370460 | MPO | n.735G>C c.527G>C (p.Gly176Ala) n.442G>C c.1402G>C (p.Gly468Arg) c.1588G>C (p.Gly530Arg) c.1117G>C (p.Gly373Arg) c.1427G>C (p.Gly476Ala) | |
17 | g.58273633C>T | CA400370464 | MPO | n.735G>A c.527G>A (p.Gly176Glu) n.442G>A c.1402G>A (p.Gly468Arg) c.1588G>A (p.Gly530Arg) c.1117G>A (p.Gly373Arg) c.1427G>A (p.Gly476Glu) | gnomAD v4 |
17 | g.58273634C>A | CA8670647 | MPO | n.734G>T c.526G>T (p.Gly176Trp) n.441G>T c.1401G>T (p.Leu467=) c.1587G>T (p.Leu529=) c.1116G>T (p.Leu372=) c.1426G>T (p.Gly476Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273634C= | CA2267631349 | MPO | n.734G= c.526G= (p.Gly176=) n.441G= c.1401G= (p.Leu467=) c.1587G= (p.Leu529=) c.1116G= (p.Leu372=) c.1426G= (p.Gly476=) | |
17 | g.58273634C>G | CA501023539 | MPO | n.734G>C c.526G>C (p.Gly176Arg) n.441G>C c.1401G>C (p.Leu467=) c.1587G>C (p.Leu529=) c.1116G>C (p.Leu372=) c.1426G>C (p.Gly476Arg) | |
17 | g.58273634C>T | CA501023543 | MPO | n.734G>A c.526G>A (p.Gly176Arg) n.441G>A c.1401G>A (p.Leu467=) c.1587G>A (p.Leu529=) c.1116G>A (p.Leu372=) c.1426G>A (p.Gly476Arg) | |
17 | g.58273635A>C | CA400370468 | MPO | n.733T>G c.525T>G (p.Ala175=) n.440T>G c.1400T>G (p.Leu467Arg) c.1586T>G (p.Leu529Arg) c.1115T>G (p.Leu372Arg) c.1425T>G (p.Ala475=) | |
17 | g.58273635A>G | CA400370466 | MPO | n.733T>C c.525T>C (p.Ala175=) n.440T>C c.1400T>C (p.Leu467Pro) c.1586T>C (p.Leu529Pro) c.1115T>C (p.Leu372Pro) c.1425T>C (p.Ala475=) | |
17 | g.58273635A>T | CA400370470 | MPO | n.733T>A c.525T>A (p.Ala175=) n.440T>A c.1400T>A (p.Leu467Gln) c.1586T>A (p.Leu529Gln) c.1115T>A (p.Leu372Gln) c.1425T>A (p.Ala475=) | |
17 | g.58273636G>A | CA501023547 | MPO | n.732C>T c.524C>T (p.Ala175Val) n.439C>T c.1399C>T (p.Leu467=) c.1585C>T (p.Leu529=) c.1114C>T (p.Leu372=) c.1424C>T (p.Ala475Val) | |
17 | g.58273636G>C | CA400370471 | MPO | n.732C>G c.524C>G (p.Ala175Gly) n.439C>G c.1399C>G (p.Leu467Val) c.1585C>G (p.Leu529Val) c.1114C>G (p.Leu372Val) c.1424C>G (p.Ala475Gly) | |
17 | g.58273636G>T | CA400370472 | MPO | n.732C>A c.524C>A (p.Ala175Asp) n.439C>A c.1399C>A (p.Leu467Met) c.1585C>A (p.Leu529Met) c.1114C>A (p.Leu372Met) c.1424C>A (p.Ala475Asp) | |
17 | g.58273637C>A | CA501023551 | MPO | n.731G>T c.523G>T (p.Ala175Ser) n.438G>T c.1398G>T (p.Val466=) c.1584G>T (p.Val528=) c.1113G>T (p.Val371=) c.1423G>T (p.Ala475Ser) | gnomAD v4 |
17 | g.58273637C>G | CA501023554 | MPO | n.731G>C c.523G>C (p.Ala175Pro) n.438G>C c.1398G>C (p.Val466=) c.1584G>C (p.Val528=) c.1113G>C (p.Val371=) c.1423G>C (p.Ala475Pro) | |
17 | g.58273637C>T | CA501023557 | MPO | n.731G>A c.523G>A (p.Ala175Thr) n.438G>A c.1398G>A (p.Val466=) c.1584G>A (p.Val528=) c.1113G>A (p.Val371=) c.1423G>A (p.Ala475Thr) | |
17 | g.58273638A>C | CA400370474 | MPO | n.730T>G c.522T>G (p.Gly174=) n.437T>G c.1397T>G (p.Val466Gly) c.1583T>G (p.Val528Gly) c.1112T>G (p.Val371Gly) c.1422T>G (p.Gly474=) | |
17 | g.58273638A>G | CA400370476 | MPO | n.730T>C c.522T>C (p.Gly174=) n.437T>C c.1397T>C (p.Val466Ala) c.1583T>C (p.Val528Ala) c.1112T>C (p.Val371Ala) c.1422T>C (p.Gly474=) | |
17 | g.58273638A>T | CA400370478 | MPO | n.730T>A c.522T>A (p.Gly174=) n.437T>A c.1397T>A (p.Val466Glu) c.1583T>A (p.Val528Glu) c.1112T>A (p.Val371Glu) c.1422T>A (p.Gly474=) | |
17 | g.58273639C>A | CA400370479 | MPO | n.729G>T c.521G>T (p.Gly174Val) n.436G>T c.1396G>T (p.Val466Leu) c.1582G>T (p.Val528Leu) c.1111G>T (p.Val371Leu) c.1421G>T (p.Gly474Val) | |
17 | g.58273639C>G | CA400370480 | MPO | n.729G>C c.521G>C (p.Gly174Ala) n.436G>C c.1396G>C (p.Val466Leu) c.1582G>C (p.Val528Leu) c.1111G>C (p.Val371Leu) c.1421G>C (p.Gly474Ala) | |
17 | g.58273639C>T | CA400370481 | MPO | n.729G>A c.521G>A (p.Gly174Asp) n.436G>A c.1396G>A (p.Val466Met) c.1582G>A (p.Val528Met) c.1111G>A (p.Val371Met) c.1421G>A (p.Gly474Asp) | gnomAD v4 |
17 | g.58273640C>A | CA501023560 | MPO | n.728G>T c.520G>T (p.Gly174Cys) n.435G>T c.1395G>T (p.Leu465=) c.1581G>T (p.Leu527=) c.1110G>T (p.Leu370=) c.1420G>T (p.Gly474Cys) | dbSNP gnomAD v4 |
17 | g.58273640C= | CA2267631351 | MPO | n.728G= c.520G= (p.Gly174=) n.435G= c.1395G= (p.Leu465=) c.1581G= (p.Leu527=) c.1110G= (p.Leu370=) c.1420G= (p.Gly474=) | |
17 | g.58273640C>G | CA501023561 | MPO | n.728G>C c.520G>C (p.Gly174Arg) n.435G>C c.1395G>C (p.Leu465=) c.1581G>C (p.Leu527=) c.1110G>C (p.Leu370=) c.1420G>C (p.Gly474Arg) | |
17 | g.58273640C>T | CA501023564 | MPO | n.728G>A c.520G>A (p.Gly174Ser) n.435G>A c.1395G>A (p.Leu465=) c.1581G>A (p.Leu527=) c.1110G>A (p.Leu370=) c.1420G>A (p.Gly474Ser) | gnomAD v4 |
17 | g.58273640_58273641delinsCA | CA2267631350 | MPO | n.727_728delinsTG c.519_520delinsTG (p.Pro173=) n.434_435delinsTG c.1394_1395delinsTG (p.Leu465=) c.1580_1581delinsTG (p.Leu527=) c.1109_1110delinsTG (p.Leu370=) c.1419_1420delinsTG (p.Pro473=) | |
17 | g.58273641del | CA626724238 | MPO | n.727del c.519del (p.Gly174ValfsTer?) n.434del c.1394del (p.Leu465ArgfsTer8) c.1580del (p.Leu527ArgfsTer8) c.1109del (p.Leu370ArgfsTer8) c.1419del (p.Gly474ValfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.58273641A= | CA2267631352 | MPO | n.727T= c.519T= (p.Pro173=) n.434T= c.1394T= (p.Leu465=) c.1580T= (p.Leu527=) c.1109T= (p.Leu370=) c.1419T= (p.Pro473=) | |
17 | g.58273641A>C | CA400370482 | MPO | n.727T>G c.519T>G (p.Pro173=) n.434T>G c.1394T>G (p.Leu465Arg) c.1580T>G (p.Leu527Arg) c.1109T>G (p.Leu370Arg) c.1419T>G (p.Pro473=) | dbSNP gnomAD v2 |
17 | g.58273641A>G | CA400370483 | MPO | n.727T>C c.519T>C (p.Pro173=) n.434T>C c.1394T>C (p.Leu465Pro) c.1580T>C (p.Leu527Pro) c.1109T>C (p.Leu370Pro) c.1419T>C (p.Pro473=) | |
17 | g.58273641A>T | CA400370485 | MPO | n.727T>A c.519T>A (p.Pro173=) n.434T>A c.1394T>A (p.Leu465Gln) c.1580T>A (p.Leu527Gln) c.1109T>A (p.Leu370Gln) c.1419T>A (p.Pro473=) | |
17 | g.58273642G>A | CA501023572 | MPO | n.726C>T c.518C>T (p.Pro173Leu) n.433C>T c.1393C>T (p.Leu465=) c.1579C>T (p.Leu527=) c.1108C>T (p.Leu370=) c.1418C>T (p.Pro473Leu) | |
17 | g.58273642G>C | CA400370486 | MPO | n.726C>G c.518C>G (p.Pro173Arg) n.433C>G c.1393C>G (p.Leu465Val) c.1579C>G (p.Leu527Val) c.1108C>G (p.Leu370Val) c.1418C>G (p.Pro473Arg) | |
17 | g.58273642G>T | CA400370488 | MPO | n.726C>A c.518C>A (p.Pro173His) n.433C>A c.1393C>A (p.Leu465Met) c.1579C>A (p.Leu527Met) c.1108C>A (p.Leu370Met) c.1418C>A (p.Pro473His) | |
17 | g.58273643G>A | CA501023579 | MPO | n.725C>T c.517C>T (p.Pro173Ser) n.432C>T c.1392C>T (p.Pro464=) c.1578C>T (p.Pro526=) c.1107C>T (p.Pro369=) c.1417C>T (p.Pro473Ser) | dbSNP gnomAD v4 |
17 | g.58273643G>C | CA501023581 | MPO | n.725C>G c.517C>G (p.Pro173Ala) n.432C>G c.1392C>G (p.Pro464=) c.1578C>G (p.Pro526=) c.1107C>G (p.Pro369=) c.1417C>G (p.Pro473Ala) | |
17 | g.58273643G>T | CA501023585 | MPO | n.725C>A c.517C>A (p.Pro173Thr) n.432C>A c.1392C>A (p.Pro464=) c.1578C>A (p.Pro526=) c.1107C>A (p.Pro369=) c.1417C>A (p.Pro473Thr) | |
17 | g.58273644G>A | CA400370491 | MPO | n.724C>T c.516C>T (p.Ala172=) n.431C>T c.1391C>T (p.Pro464Leu) c.1577C>T (p.Pro526Leu) c.1106C>T (p.Pro369Leu) c.1416C>T (p.Ala472=) | gnomAD v4 |
17 | g.58273644G>C | CA400370489 | MPO | n.724C>G c.516C>G (p.Ala172=) n.431C>G c.1391C>G (p.Pro464Arg) c.1577C>G (p.Pro526Arg) c.1106C>G (p.Pro369Arg) c.1416C>G (p.Ala472=) | |
17 | g.58273644G>T | CA400370490 | MPO | n.724C>A c.516C>A (p.Ala172=) n.431C>A c.1391C>A (p.Pro464His) c.1577C>A (p.Pro526His) c.1106C>A (p.Pro369His) c.1416C>A (p.Ala472=) | |
17 | g.58273645G>A | CA8670648 | MPO | n.723C>T c.515C>T (p.Ala172Val) n.430C>T c.1390C>T (p.Pro464Ser) c.1576C>T (p.Pro526Ser) c.1105C>T (p.Pro369Ser) c.1415C>T (p.Ala472Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273645G>C | CA400370493 | MPO | n.723C>G c.515C>G (p.Ala172Gly) n.430C>G c.1390C>G (p.Pro464Ala) c.1576C>G (p.Pro526Ala) c.1105C>G (p.Pro369Ala) c.1415C>G (p.Ala472Gly) | |
17 | g.58273645G= | CA2267631353 | MPO | n.723C= c.515C= (p.Ala172=) n.430C= c.1390C= (p.Pro464=) c.1576C= (p.Pro526=) c.1105C= (p.Pro369=) c.1415C= (p.Ala472=) | |
17 | g.58273645G>T | CA400370494 | MPO | n.723C>A c.515C>A (p.Ala172Asp) n.430C>A c.1390C>A (p.Pro464Thr) c.1576C>A (p.Pro526Thr) c.1105C>A (p.Pro369Thr) c.1415C>A (p.Ala472Asp) | |
17 | g.58273646C>A | CA501023603 | MPO | n.722G>T c.514G>T (p.Ala172Ser) n.429G>T c.1389G>T (p.Leu463=) c.1575G>T (p.Leu525=) c.1104G>T (p.Leu368=) c.1414G>T (p.Ala472Ser) | |
17 | g.58273646C>G | CA501023604 | MPO | n.722G>C c.514G>C (p.Ala172Pro) n.429G>C c.1389G>C (p.Leu463=) c.1575G>C (p.Leu525=) c.1104G>C (p.Leu368=) c.1414G>C (p.Ala472Pro) | |
17 | g.58273646C>T | CA501023607 | MPO | n.722G>A c.514G>A (p.Ala172Thr) n.429G>A c.1389G>A (p.Leu463=) c.1575G>A (p.Leu525=) c.1104G>A (p.Leu368=) c.1414G>A (p.Ala472Thr) | |
17 | g.58273647A>C | CA400370495 | MPO | n.721T>G c.513T>G (p.Pro171=) n.428T>G c.1388T>G (p.Leu463Arg) c.1574T>G (p.Leu525Arg) c.1103T>G (p.Leu368Arg) c.1413T>G (p.Pro471=) | |
17 | g.58273647A>G | CA400370496 | MPO | n.721T>C c.513T>C (p.Pro171=) n.428T>C c.1388T>C (p.Leu463Pro) c.1574T>C (p.Leu525Pro) c.1103T>C (p.Leu368Pro) c.1413T>C (p.Pro471=) | |
17 | g.58273647A>T | CA400370498 | MPO | n.721T>A c.513T>A (p.Pro171=) n.428T>A c.1388T>A (p.Leu463Gln) c.1574T>A (p.Leu525Gln) c.1103T>A (p.Leu368Gln) c.1413T>A (p.Pro471=) | |
17 | g.58273648G>A | CA501023616 | MPO | n.720C>T c.512C>T (p.Pro171Leu) n.427C>T c.1387C>T (p.Leu463=) c.1573C>T (p.Leu525=) c.1102C>T (p.Leu368=) c.1412C>T (p.Pro471Leu) | COSMIC COSMIC |
17 | g.58273648G>C | CA292012411 | MPO | n.720C>G c.512C>G (p.Pro171Arg) n.427C>G c.1387C>G (p.Leu463Val) c.1573C>G (p.Leu525Val) c.1102C>G (p.Leu368Val) c.1412C>G (p.Pro471Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273648G= | CA2267631354 | MPO | n.720C= c.512C= (p.Pro171=) n.427C= c.1387C= (p.Leu463=) c.1573C= (p.Leu525=) c.1102C= (p.Leu368=) c.1412C= (p.Pro471=) | |
17 | g.58273648G>T | CA400370501 | MPO | n.720C>A c.512C>A (p.Pro171His) n.427C>A c.1387C>A (p.Leu463Met) c.1573C>A (p.Leu525Met) c.1102C>A (p.Leu368Met) c.1412C>A (p.Pro471His) | gnomAD v4 |
17 | g.58273649G>A | CA501023623 | MPO | n.719C>T c.511C>T (p.Pro171Ser) n.426C>T c.1386C>T (p.Tyr462=) c.1572C>T (p.Tyr524=) c.1101C>T (p.Tyr367=) c.1411C>T (p.Pro471Ser) | gnomAD v4 |
17 | g.58273649G>C | CA400370502 | MPO | n.719C>G c.511C>G (p.Pro171Ala) n.426C>G c.1386C>G (p.Tyr462Ter) c.1572C>G (p.Tyr524Ter) c.1101C>G (p.Tyr367Ter) c.1411C>G (p.Pro471Ala) | |
17 | g.58273649G>T | CA400370503 | MPO | n.719C>A c.511C>A (p.Pro171Thr) n.426C>A c.1386C>A (p.Tyr462Ter) c.1572C>A (p.Tyr524Ter) c.1101C>A (p.Tyr367Ter) c.1411C>A (p.Pro471Thr) | |
17 | g.58273650T>A | CA400370507 | MPO | n.718A>T c.510A>T (p.Leu170=) n.425A>T c.1385A>T (p.Tyr462Phe) c.1571A>T (p.Tyr524Phe) c.1100A>T (p.Tyr367Phe) c.1410A>T (p.Leu470=) | |
17 | g.58273650T>C | CA400370509 | MPO | n.718A>G c.510A>G (p.Leu170=) n.425A>G c.1385A>G (p.Tyr462Cys) c.1571A>G (p.Tyr524Cys) c.1100A>G (p.Tyr367Cys) c.1410A>G (p.Leu470=) | |
17 | g.58273650T>G | CA400370506 | MPO | n.718A>C c.510A>C (p.Leu170=) n.425A>C c.1385A>C (p.Tyr462Ser) c.1571A>C (p.Tyr524Ser) c.1100A>C (p.Tyr367Ser) c.1410A>C (p.Leu470=) | dbSNP |
17 | g.58273650T= | CA2267631355 | MPO | n.718A= c.510A= (p.Leu170=) n.425A= c.1385A= (p.Tyr462=) c.1571A= (p.Tyr524=) c.1100A= (p.Tyr367=) c.1410A= (p.Leu470=) | |
17 | g.58273651A= | CA2267631356 | MPO | n.717T= c.509T= (p.Leu170=) n.424T= c.1384T= (p.Tyr462=) c.1570T= (p.Tyr524=) c.1099T= (p.Tyr367=) c.1409T= (p.Leu470=) | |
17 | g.58273651A>C | CA400370510 | MPO | n.717T>G c.509T>G (p.Leu170Arg) n.424T>G c.1384T>G (p.Tyr462Asp) c.1570T>G (p.Tyr524Asp) c.1099T>G (p.Tyr367Asp) c.1409T>G (p.Leu470Arg) | |
17 | g.58273651A>G | CA400370511 | MPO | n.717T>C c.509T>C (p.Leu170Pro) n.424T>C c.1384T>C (p.Tyr462His) c.1570T>C (p.Tyr524His) c.1099T>C (p.Tyr367His) c.1409T>C (p.Leu470Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.58273651A>T | CA400370512 | MPO | n.717T>A c.509T>A (p.Leu170Gln) n.424T>A c.1384T>A (p.Tyr462Asn) c.1570T>A (p.Tyr524Asn) c.1099T>A (p.Tyr367Asn) c.1409T>A (p.Leu470Gln) | |
17 | g.58273652G>A | CA501023637 | MPO | n.716C>T c.508C>T (p.Leu170=) n.423C>T c.1383C>T (p.Asp461=) c.1569C>T (p.Asp523=) c.1098C>T (p.Asp366=) c.1408C>T (p.Leu470=) | |
17 | g.58273652G>C | CA400370514 | MPO | n.716C>G c.508C>G (p.Leu170Val) n.423C>G c.1383C>G (p.Asp461Glu) c.1569C>G (p.Asp523Glu) c.1098C>G (p.Asp366Glu) c.1408C>G (p.Leu470Val) | |
17 | g.58273652G>T | CA400370516 | MPO | n.716C>A c.508C>A (p.Leu170Ile) n.423C>A c.1383C>A (p.Asp461Glu) c.1569C>A (p.Asp523Glu) c.1098C>A (p.Asp366Glu) c.1408C>A (p.Leu470Ile) | |
17 | g.58273653T>A | CA400370518 | MPO | n.715A>T c.507A>T (p.Gly169=) n.422A>T c.1382A>T (p.Asp461Val) c.1568A>T (p.Asp523Val) c.1097A>T (p.Asp366Val) c.1407A>T (p.Gly469=) | |
17 | g.58273653T>C | CA400370519 | MPO | n.715A>G c.507A>G (p.Gly169=) n.422A>G c.1382A>G (p.Asp461Gly) c.1568A>G (p.Asp523Gly) c.1097A>G (p.Asp366Gly) c.1407A>G (p.Gly469=) | COSMIC COSMIC |
17 | g.58273653T>G | CA400370521 | MPO | n.715A>C c.507A>C (p.Gly169=) n.422A>C c.1382A>C (p.Asp461Ala) c.1568A>C (p.Asp523Ala) c.1097A>C (p.Asp366Ala) c.1407A>C (p.Gly469=) | |
17 | g.58273654C>A | CA400370523 | MPO | n.714G>T c.506G>T (p.Gly169Val) n.421G>T c.1381G>T (p.Asp461Tyr) c.1567G>T (p.Asp523Tyr) c.1096G>T (p.Asp366Tyr) c.1406G>T (p.Gly469Val) | |
17 | g.58273654C= | CA2267631357 | MPO | n.714G= c.506G= (p.Gly169=) n.421G= c.1381G= (p.Asp461=) c.1567G= (p.Asp523=) c.1096G= (p.Asp366=) c.1406G= (p.Gly469=) | |
17 | g.58273654C>G | CA400370524 | MPO | n.714G>C c.506G>C (p.Gly169Ala) n.421G>C c.1381G>C (p.Asp461His) c.1567G>C (p.Asp523His) c.1096G>C (p.Asp366His) c.1406G>C (p.Gly469Ala) | |
17 | g.58273654C>T | CA400370525 | MPO | n.714G>A c.506G>A (p.Gly169Glu) n.421G>A c.1381G>A (p.Asp461Asn) c.1567G>A (p.Asp523Asn) c.1096G>A (p.Asp366Asn) c.1406G>A (p.Gly469Glu) | dbSNP gnomAD v4 |
17 | g.58273655C>A | CA501023655 | MPO | n.713G>T c.505G>T (p.Gly169Ter) n.420G>T c.1380G>T (p.Arg460=) c.1566G>T (p.Arg522=) c.1095G>T (p.Arg365=) c.1405G>T (p.Gly469Ter) | |
17 | g.58273655C>G | CA501023659 | MPO | n.713G>C c.505G>C (p.Gly169Arg) n.420G>C c.1380G>C (p.Arg460=) c.1566G>C (p.Arg522=) c.1095G>C (p.Arg365=) c.1405G>C (p.Gly469Arg) | |
17 | g.58273655C>T | CA501023653 | MPO | n.713G>A c.505G>A (p.Gly169Arg) n.420G>A c.1380G>A (p.Arg460=) c.1566G>A (p.Arg522=) c.1095G>A (p.Arg365=) c.1405G>A (p.Gly469Arg) | |
17 | g.58273656C>A | CA400370527 | MPO | n.712G>T c.504G>T (p.Pro168=) n.419G>T c.1379G>T (p.Arg460Leu) c.1565G>T (p.Arg522Leu) c.1094G>T (p.Arg365Leu) c.1404G>T (p.Pro468=) | COSMIC COSMIC |
17 | g.58273656C= | CA2267631358 | MPO | n.712G= c.504G= (p.Pro168=) n.419G= c.1379G= (p.Arg460=) c.1565G= (p.Arg522=) c.1094G= (p.Arg365=) c.1404G= (p.Pro468=) | |
17 | g.58273656C>G | CA400370529 | MPO | n.712G>C c.504G>C (p.Pro168=) n.419G>C c.1379G>C (p.Arg460Pro) c.1565G>C (p.Arg522Pro) c.1094G>C (p.Arg365Pro) c.1404G>C (p.Pro468=) | |
17 | g.58273656C>T | CA8670649 | MPO | n.712G>A c.504G>A (p.Pro168=) n.419G>A c.1379G>A (p.Arg460Gln) c.1565G>A (p.Arg522Gln) c.1094G>A (p.Arg365Gln) c.1404G>A (p.Pro468=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273657G>A | CA292012412 | MPO | n.711C>T c.503C>T (p.Pro168Leu) n.418C>T c.1378C>T (p.Arg460Trp) c.1564C>T (p.Arg522Trp) c.1093C>T (p.Arg365Trp) c.1403C>T (p.Pro468Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273657G>C | CA400370531 | MPO | n.711C>G c.503C>G (p.Pro168Arg) n.418C>G c.1378C>G (p.Arg460Gly) c.1564C>G (p.Arg522Gly) c.1093C>G (p.Arg365Gly) c.1403C>G (p.Pro468Arg) | |
17 | g.58273657G= | CA2267631359 | MPO | n.711C= c.503C= (p.Pro168=) n.418C= c.1378C= (p.Arg460=) c.1564C= (p.Arg522=) c.1093C= (p.Arg365=) c.1403C= (p.Pro468=) | |
17 | g.58273657G>T | CA501023669 | MPO | n.711C>A c.503C>A (p.Pro168Gln) n.418C>A c.1378C>A (p.Arg460=) c.1564C>A (p.Arg522=) c.1093C>A (p.Arg365=) c.1403C>A (p.Pro468Gln) | |
17 | g.58273657_58273661delinsGGTAA | CA2267631360 | MPO | n.707_711delinsTTACC c.499_503delinsTTACC (p.Leu167=) n.414_418delinsTTACC c.1374_1378delinsTTACC (p.Thr458=) c.1560_1564delinsTTACC (p.Thr520=) c.1089_1093delinsTTACC (p.Thr363=) c.1399_1403delinsTTACC (p.Leu467=) | |
17 | g.58273658G>A | CA8670650 | MPO | n.710C>T c.502C>T (p.Pro168Ser) n.417C>T c.1377C>T (p.Tyr459=) c.1563C>T (p.Tyr521=) c.1092C>T (p.Tyr364=) c.1402C>T (p.Pro468Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273658G>C | CA400370532 | MPO | n.710C>G c.502C>G (p.Pro168Ala) n.417C>G c.1377C>G (p.Tyr459Ter) c.1563C>G (p.Tyr521Ter) c.1092C>G (p.Tyr364Ter) c.1402C>G (p.Pro468Ala) | |
17 | g.58273658G= | CA2267631361 | MPO | n.710C= c.502C= (p.Pro168=) n.417C= c.1377C= (p.Tyr459=) c.1563C= (p.Tyr521=) c.1092C= (p.Tyr364=) c.1402C= (p.Pro468=) | |
17 | g.58273658G>T | CA400370534 | MPO | n.710C>A c.502C>A (p.Pro168Thr) n.417C>A c.1377C>A (p.Tyr459Ter) c.1563C>A (p.Tyr521Ter) c.1092C>A (p.Tyr364Ter) c.1402C>A (p.Pro468Thr) | |
17 | g.58273660_58273663del | CA773481932 | MPO | n.707_710del c.499_502del (p.Leu167ArgfsTer?) n.414_417del c.1374_1377del (p.Tyr459GlyfsTer13) c.1560_1563del (p.Tyr521GlyfsTer13) c.1089_1092del (p.Tyr364GlyfsTer13) c.1399_1402del (p.Leu467ArgfsTer?) | dbSNP |
17 | g.58273659T>A | CA400370538 | MPO | n.709A>T c.501A>T (p.Leu167Phe) n.416A>T c.1376A>T (p.Tyr459Phe) c.1562A>T (p.Tyr521Phe) c.1091A>T (p.Tyr364Phe) c.1401A>T (p.Leu467Phe) | |
17 | g.58273659T>C | CA400370536 | MPO | n.709A>G c.501A>G (p.Leu167=) n.416A>G c.1376A>G (p.Tyr459Cys) c.1562A>G (p.Tyr521Cys) c.1091A>G (p.Tyr364Cys) c.1401A>G (p.Leu467=) | gnomAD v4 |
17 | g.58273659T>G | CA400370537 | MPO | n.709A>C c.501A>C (p.Leu167Phe) n.416A>C c.1376A>C (p.Tyr459Ser) c.1562A>C (p.Tyr521Ser) c.1091A>C (p.Tyr364Ser) c.1401A>C (p.Leu467Phe) | dbSNP |
17 | g.58273659T= | CA2267631362 | MPO | n.709A= c.501A= (p.Leu167=) n.416A= c.1376A= (p.Tyr459=) c.1562A= (p.Tyr521=) c.1091A= (p.Tyr364=) c.1401A= (p.Leu467=) |