Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.58273386_58273397del | CA2733810782 | MPO | n.954+17_954+28del c.746+17_746+28del (n.746+17_746+28del) n.678_689del c.1621+17_1621+28del (n.1621+17_1621+28del) c.79+17_79+28del (n.79+17_79+28del) c.1807+17_1807+28del (n.1807+17_1807+28del) c.1336+17_1336+28del (n.1336+17_1336+28del) | dbSNP |
17 | g.58273393C>A | CA2638971655 | MPO | n.954+21G>T c.746+21G>T (n.746+21G>T) n.682G>T c.1621+21G>T (n.1621+21G>T) c.79+21G>T (n.79+21G>T) c.1807+21G>T (n.1807+21G>T) c.1336+21G>T (n.1336+21G>T) | gnomAD v4 |
17 | g.58273395T>C | CA8670582 | MPO | n.954+19A>G c.746+19A>G (n.746+19A>G) n.680A>G c.1621+19A>G (n.1621+19A>G) c.79+19A>G (n.79+19A>G) c.1807+19A>G (n.1807+19A>G) c.1336+19A>G (n.1336+19A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273395T= | CA2267631229 | MPO | n.954+19A= c.746+19A= (n.746+19A=) n.680A= c.1621+19A= (n.1621+19A=) c.79+19A= (n.79+19A=) c.1807+19A= (n.1807+19A=) c.1336+19A= (n.1336+19A=) | |
17 | g.58273397G= | CA2267631230 | MPO | n.954+17C= c.746+17C= (n.746+17C=) n.678C= c.1621+17C= (n.1621+17C=) c.79+17C= (n.79+17C=) c.1807+17C= (n.1807+17C=) c.1336+17C= (n.1336+17C=) | |
17 | g.58273397G>T | CA773505763 | MPO | n.954+17C>A c.746+17C>A (n.746+17C>A) n.678C>A c.1621+17C>A (n.1621+17C>A) c.79+17C>A (n.79+17C>A) c.1807+17C>A (n.1807+17C>A) c.1336+17C>A (n.1336+17C>A) | dbSNP |
17 | g.58273400T>A | CA773505779 | MPO | n.954+14A>T c.746+14A>T (n.746+14A>T) n.675A>T c.1621+14A>T (n.1621+14A>T) c.79+14A>T (n.79+14A>T) c.1807+14A>T (n.1807+14A>T) c.1336+14A>T (n.1336+14A>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.58273400T= | CA2267631231 | MPO | n.954+14A= c.746+14A= (n.746+14A=) n.675A= c.1621+14A= (n.1621+14A=) c.79+14A= (n.79+14A=) c.1807+14A= (n.1807+14A=) c.1336+14A= (n.1336+14A=) | |
17 | g.58273403G>C | CA2809973223 | MPO | n.954+11C>G c.746+11C>G (n.746+11C>G) n.672C>G c.1621+11C>G (n.1621+11C>G) c.79+11C>G (n.79+11C>G) c.1807+11C>G (n.1807+11C>G) c.1336+11C>G (n.1336+11C>G) | |
17 | g.58273405C= | CA2267631232 | MPO | n.954+9G= c.746+9G= (n.746+9G=) n.670G= c.1621+9G= (n.1621+9G=) c.79+9G= (n.79+9G=) c.1807+9G= (n.1807+9G=) c.1336+9G= (n.1336+9G=) | |
17 | g.58273405C>T | CA2267631233 | MPO | n.954+9G>A c.746+9G>A (n.746+9G>A) n.670G>A c.1621+9G>A (n.1621+9G>A) c.79+9G>A (n.79+9G>A) c.1807+9G>A (n.1807+9G>A) c.1336+9G>A (n.1336+9G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.58273406C>T | CA2638971658 | MPO | n.954+8G>A c.746+8G>A (n.746+8G>A) n.669G>A c.1621+8G>A (n.1621+8G>A) c.79+8G>A (n.79+8G>A) c.1807+8G>A (n.1807+8G>A) c.1336+8G>A (n.1336+8G>A) | gnomAD v4 |
17 | g.58273407T>C | CA2267631235 | MPO | n.954+7A>G c.746+7A>G (n.746+7A>G) n.668A>G c.1621+7A>G (n.1621+7A>G) c.79+7A>G (n.79+7A>G) c.1807+7A>G (n.1807+7A>G) c.1336+7A>G (n.1336+7A>G) | dbSNP |
17 | g.58273407T= | CA2267631234 | MPO | n.954+7A= c.746+7A= (n.746+7A=) n.668A= c.1621+7A= (n.1621+7A=) c.79+7A= (n.79+7A=) c.1807+7A= (n.1807+7A=) c.1336+7A= (n.1336+7A=) | |
17 | g.58273412A= | CA2267631236 | MPO | n.954+2T= c.746+2T= (n.746+2T=) n.663T= c.1621+2T= (n.1621+2T=) c.79+2T= (n.79+2T=) c.1807+2T= (n.1807+2T=) c.1336+2T= (n.1336+2T=) | |
17 | g.58273412A>C | CA400369583 | MPO | n.954+2T>G c.746+2T>G (n.746+2T>G) n.663T>G c.1621+2T>G (n.1621+2T>G) c.79+2T>G (n.79+2T>G) c.1807+2T>G (n.1807+2T>G) c.1336+2T>G (n.1336+2T>G) | |
17 | g.58273412A>G | CA400369584 | MPO | n.954+2T>C c.746+2T>C (n.746+2T>C) n.663T>C c.1621+2T>C (n.1621+2T>C) c.79+2T>C (n.79+2T>C) c.1807+2T>C (n.1807+2T>C) c.1336+2T>C (n.1336+2T>C) | ClinVar dbSNP gnomAD v4 |
17 | g.58273412A>T | CA400369585 | MPO | n.954+2T>A c.746+2T>A (n.746+2T>A) n.663T>A c.1621+2T>A (n.1621+2T>A) c.79+2T>A (n.79+2T>A) c.1807+2T>A (n.1807+2T>A) c.1336+2T>A (n.1336+2T>A) | |
17 | g.58273413C>A | CA400369586 | MPO | n.954+1G>T c.746+1G>T (n.746+1G>T) n.662G>T c.1621+1G>T (n.1621+1G>T) c.79+1G>T (n.79+1G>T) c.1807+1G>T (n.1807+1G>T) c.1336+1G>T (n.1336+1G>T) | |
17 | g.58273413C>G | CA400369588 | MPO | n.954+1G>C c.746+1G>C (n.746+1G>C) n.662G>C c.1621+1G>C (n.1621+1G>C) c.79+1G>C (n.79+1G>C) c.1807+1G>C (n.1807+1G>C) c.1336+1G>C (n.1336+1G>C) | |
17 | g.58273413C>T | CA400369587 | MPO | n.954+1G>A c.746+1G>A (n.746+1G>A) n.662G>A c.1621+1G>A (n.1621+1G>A) c.79+1G>A (n.79+1G>A) c.1807+1G>A (n.1807+1G>A) c.1336+1G>A (n.1336+1G>A) | |
17 | g.58273414C>A | CA400369590 | MPO | n.954G>T c.746G>T (n.746G>T) n.661G>T c.1621G>T (p.Gly541Cys) c.79G>T (p.Gly27Cys) c.1807G>T (p.Gly603Cys) c.1336G>T (p.Gly446Cys) | |
17 | g.58273414C>G | CA400369592 | MPO | n.954G>C c.746G>C (n.746G>C) n.661G>C c.1621G>C (p.Gly541Arg) c.79G>C (p.Gly27Arg) c.1807G>C (p.Gly603Arg) c.1336G>C (p.Gly446Arg) | |
17 | g.58273414C>T | CA400369594 | MPO | n.954G>A c.746G>A (n.746G>A) n.661G>A c.1621G>A (p.Gly541Ser) c.79G>A (p.Gly27Ser) c.1807G>A (p.Gly603Ser) c.1336G>A (p.Gly446Ser) | gnomAD v4 |
17 | g.58273415T>A | CA400369596 | MPO | n.953A>T c.745A>T (n.745A>T) n.660A>T c.1620A>T (p.Glu540Asp) c.78A>T (p.Glu26Asp) c.1806A>T (p.Glu602Asp) c.1335A>T (p.Glu445Asp) | |
17 | g.58273415T>C | CA501022054 | MPO | n.953A>G c.745A>G (n.745A>G) n.660A>G c.1620A>G (p.Glu540=) c.78A>G (p.Glu26=) c.1806A>G (p.Glu602=) c.1335A>G (p.Glu445=) | |
17 | g.58273415T>G | CA400369598 | MPO | n.953A>C c.745A>C (n.745A>C) n.660A>C c.1620A>C (p.Glu540Asp) c.78A>C (p.Glu26Asp) c.1806A>C (p.Glu602Asp) c.1335A>C (p.Glu445Asp) | |
17 | g.58273416T>A | CA400369600 | MPO | n.952A>T c.744A>T (n.744A>T) n.659A>T c.1619A>T (p.Glu540Val) c.77A>T (p.Glu26Val) c.1805A>T (p.Glu602Val) c.1334A>T (p.Glu445Val) | |
17 | g.58273416T>C | CA400369602 | MPO | n.952A>G c.744A>G (n.744A>G) n.659A>G c.1619A>G (p.Glu540Gly) c.77A>G (p.Glu26Gly) c.1805A>G (p.Glu602Gly) c.1334A>G (p.Glu445Gly) | |
17 | g.58273416T>G | CA400369604 | MPO | n.952A>C c.744A>C (n.744A>C) n.659A>C c.1619A>C (p.Glu540Ala) c.77A>C (p.Glu26Ala) c.1805A>C (p.Glu602Ala) c.1334A>C (p.Glu445Ala) | |
17 | g.58273417C>A | CA8670583 | MPO | n.951G>T c.743G>T (n.743G>T) n.658G>T c.1618G>T (p.Glu540Ter) c.76G>T (p.Glu26Ter) c.1804G>T (p.Glu602Ter) c.1333G>T (p.Glu445Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273417C= | CA2267631237 | MPO | n.951G= c.743G= (n.743G=) n.658G= c.1618G= (p.Glu540=) c.76G= (p.Glu26=) c.1804G= (p.Glu602=) c.1333G= (p.Glu445=) | |
17 | g.58273417C>G | CA400369608 | MPO | n.951G>C c.743G>C (n.743G>C) n.658G>C c.1618G>C (p.Glu540Gln) c.76G>C (p.Glu26Gln) c.1804G>C (p.Glu602Gln) c.1333G>C (p.Glu445Gln) | COSMIC COSMIC |
17 | g.58273417C>T | CA400369609 | MPO | n.951G>A c.743G>A (n.743G>A) n.658G>A c.1618G>A (p.Glu540Lys) c.76G>A (p.Glu26Lys) c.1804G>A (p.Glu602Lys) c.1333G>A (p.Glu445Lys) | COSMIC COSMIC |
17 | g.58273418C>A | CA501022066 | MPO | n.950G>T c.742G>T (n.742G>T) n.657G>T c.1617G>T (p.Leu539=) c.75G>T (p.Leu25=) c.1803G>T (p.Leu601=) c.1332G>T (p.Leu444=) | |
17 | g.58273418C>G | CA501022068 | MPO | n.950G>C c.742G>C (n.742G>C) n.657G>C c.1617G>C (p.Leu539=) c.75G>C (p.Leu25=) c.1803G>C (p.Leu601=) c.1332G>C (p.Leu444=) | |
17 | g.58273418C>T | CA501022071 | MPO | n.950G>A c.742G>A (n.742G>A) n.657G>A c.1617G>A (p.Leu539=) c.75G>A (p.Leu25=) c.1803G>A (p.Leu601=) c.1332G>A (p.Leu444=) | |
17 | g.58273419A>C | CA400369614 | MPO | n.949T>G c.741T>G (n.741T>G) n.656T>G c.1616T>G (p.Leu539Arg) c.74T>G (p.Leu25Arg) c.1802T>G (p.Leu601Arg) c.1331T>G (p.Leu444Arg) | |
17 | g.58273419A>G | CA400369616 | MPO | n.949T>C c.741T>C (n.741T>C) n.656T>C c.1616T>C (p.Leu539Pro) c.74T>C (p.Leu25Pro) c.1802T>C (p.Leu601Pro) c.1331T>C (p.Leu444Pro) | |
17 | g.58273419A>T | CA400369612 | MPO | n.949T>A c.741T>A (n.741T>A) n.656T>A c.1616T>A (p.Leu539Gln) c.74T>A (p.Leu25Gln) c.1802T>A (p.Leu601Gln) c.1331T>A (p.Leu444Gln) | |
17 | g.58273420G>A | CA501022078 | MPO | n.948C>T c.740C>T (n.740C>T) n.655C>T c.1615C>T (p.Leu539=) c.73C>T (p.Leu25=) c.1801C>T (p.Leu601=) c.1330C>T (p.Leu444=) | |
17 | g.58273420G>C | CA400369620 | MPO | n.948C>G c.740C>G (n.740C>G) n.655C>G c.1615C>G (p.Leu539Val) c.73C>G (p.Leu25Val) c.1801C>G (p.Leu601Val) c.1330C>G (p.Leu444Val) | |
17 | g.58273420G>T | CA400369618 | MPO | n.948C>A c.740C>A (n.740C>A) n.655C>A c.1615C>A (p.Leu539Met) c.73C>A (p.Leu25Met) c.1801C>A (p.Leu601Met) c.1330C>A (p.Leu444Met) | |
17 | g.58273421C>A | CA501022083 | MPO | n.947G>T c.739G>T (n.739G>T) n.654G>T c.1614G>T (p.Val538=) c.72G>T (p.Val24=) c.1800G>T (p.Val600=) c.1329G>T (p.Val443=) | |
17 | g.58273421C>G | CA501022086 | MPO | n.947G>C c.739G>C (n.739G>C) n.654G>C c.1614G>C (p.Val538=) c.72G>C (p.Val24=) c.1800G>C (p.Val600=) c.1329G>C (p.Val443=) | |
17 | g.58273421C>T | CA501022089 | MPO | n.947G>A c.739G>A (n.739G>A) n.654G>A c.1614G>A (p.Val538=) c.72G>A (p.Val24=) c.1800G>A (p.Val600=) c.1329G>A (p.Val443=) | |
17 | g.58273422A>C | CA400369624 | MPO | n.946T>G c.738T>G (n.738T>G) n.653T>G c.1613T>G (p.Val538Gly) c.71T>G (p.Val24Gly) c.1799T>G (p.Val600Gly) c.1328T>G (p.Val443Gly) | |
17 | g.58273422A>G | CA400369622 | MPO | n.946T>C c.738T>C (n.738T>C) n.653T>C c.1613T>C (p.Val538Ala) c.71T>C (p.Val24Ala) c.1799T>C (p.Val600Ala) c.1328T>C (p.Val443Ala) | gnomAD v4 |
17 | g.58273422A>T | CA400369626 | MPO | n.946T>A c.738T>A (n.738T>A) n.653T>A c.1613T>A (p.Val538Glu) c.71T>A (p.Val24Glu) c.1799T>A (p.Val600Glu) c.1328T>A (p.Val443Glu) | |
17 | g.58273423C>A | CA400369628 | MPO | n.945G>T c.737G>T (n.737G>T) n.652G>T c.1612G>T (p.Val538Leu) c.70G>T (p.Val24Leu) c.1798G>T (p.Val600Leu) c.1327G>T (p.Val443Leu) | dbSNP gnomAD v4 |
17 | g.58273423C= | CA2267631238 | MPO | n.945G= c.737G= (n.737G=) n.652G= c.1612G= (p.Val538=) c.70G= (p.Val24=) c.1798G= (p.Val600=) c.1327G= (p.Val443=) | |
17 | g.58273423C>G | CA400369631 | MPO | n.945G>C c.737G>C (n.737G>C) n.652G>C c.1612G>C (p.Val538Leu) c.70G>C (p.Val24Leu) c.1798G>C (p.Val600Leu) c.1327G>C (p.Val443Leu) | |
17 | g.58273423C>T | CA8670584 | MPO | n.945G>A c.737G>A (n.737G>A) n.652G>A c.1612G>A (p.Val538Met) c.70G>A (p.Val24Met) c.1798G>A (p.Val600Met) c.1327G>A (p.Val443Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.58273424G>A | CA8670585 | MPO | n.944C>T c.736C>T (n.736C>T) n.651C>T c.1611C>T (p.Val537=) c.69C>T (p.Val23=) c.1797C>T (p.Val599=) c.1326C>T (p.Val442=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273424G>C | CA501022106 | MPO | n.944C>G c.736C>G (n.736C>G) n.651C>G c.1611C>G (p.Val537=) c.69C>G (p.Val23=) c.1797C>G (p.Val599=) c.1326C>G (p.Val442=) | |
17 | g.58273424G= | CA2267631239 | MPO | n.944C= c.736C= (n.736C=) n.651C= c.1611C= (p.Val537=) c.69C= (p.Val23=) c.1797C= (p.Val599=) c.1326C= (p.Val442=) | |
17 | g.58273424G>T | CA501022102 | MPO | n.944C>A c.736C>A (n.736C>A) n.651C>A c.1611C>A (p.Val537=) c.69C>A (p.Val23=) c.1797C>A (p.Val599=) c.1326C>A (p.Val442=) | |
17 | g.58273425A>C | CA400369634 | MPO | n.943T>G c.735T>G (n.735T>G) n.650T>G c.1610T>G (p.Val537Gly) c.68T>G (p.Val23Gly) c.1796T>G (p.Val599Gly) c.1325T>G (p.Val442Gly) | |
17 | g.58273425A>G | CA400369636 | MPO | n.943T>C c.735T>C (n.735T>C) n.650T>C c.1610T>C (p.Val537Ala) c.68T>C (p.Val23Ala) c.1796T>C (p.Val599Ala) c.1325T>C (p.Val442Ala) | |
17 | g.58273425A>T | CA400369638 | MPO | n.943T>A c.735T>A (n.735T>A) n.650T>A c.1610T>A (p.Val537Asp) c.68T>A (p.Val23Asp) c.1796T>A (p.Val599Asp) c.1325T>A (p.Val442Asp) | |
17 | g.58273426C>A | CA400369640 | MPO | n.942G>T c.734G>T (n.734G>T) n.649G>T c.1609G>T (p.Val537Phe) c.67G>T (p.Val23Phe) c.1795G>T (p.Val599Phe) c.1324G>T (p.Val442Phe) | gnomAD v4 |
17 | g.58273426C= | CA2267631240 | MPO | n.942G= c.734G= (n.734G=) n.649G= c.1609G= (p.Val537=) c.67G= (p.Val23=) c.1795G= (p.Val599=) c.1324G= (p.Val442=) | |
17 | g.58273426C>G | CA400369642 | MPO | n.942G>C c.734G>C (n.734G>C) n.649G>C c.1609G>C (p.Val537Leu) c.67G>C (p.Val23Leu) c.1795G>C (p.Val599Leu) c.1324G>C (p.Val442Leu) | |
17 | g.58273426C>T | CA8670586 | MPO | n.942G>A c.734G>A (n.734G>A) n.649G>A c.1609G>A (p.Val537Ile) c.67G>A (p.Val23Ile) c.1795G>A (p.Val599Ile) c.1324G>A (p.Val442Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.58273427C>A | CA400369645 | MPO | n.941G>T c.733G>T (n.733G>T) n.648G>T c.1608G>T (p.Arg536Ser) c.66G>T (p.Arg22Ser) c.1794G>T (p.Arg598Ser) c.1323G>T (p.Arg441Ser) c.*157G>T (n.*157G>T) | |
17 | g.58273427C= | CA2267631241 | MPO | n.941G= c.733G= (n.733G=) n.648G= c.1608G= (p.Arg536=) c.66G= (p.Arg22=) c.1794G= (p.Arg598=) c.1323G= (p.Arg441=) c.*157G= (n.*157G=) | |
17 | g.58273427C>G | CA400369647 | MPO | n.941G>C c.733G>C (n.733G>C) n.648G>C c.1608G>C (p.Arg536Ser) c.66G>C (p.Arg22Ser) c.1794G>C (p.Arg598Ser) c.1323G>C (p.Arg441Ser) c.*157G>C (n.*157G>C) | |
17 | g.58273427C>T | CA501022119 | MPO | n.941G>A c.733G>A (n.733G>A) n.648G>A c.1608G>A (p.Arg536=) c.66G>A (p.Arg22=) c.1794G>A (p.Arg598=) c.1323G>A (p.Arg441=) c.*157G>A (n.*157G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.58273428C>A | CA400369649 | MPO | n.940G>T c.732G>T (n.732G>T) n.647G>T c.1607G>T (p.Arg536Met) c.65G>T (p.Arg22Met) c.1793G>T (p.Arg598Met) c.1322G>T (p.Arg441Met) c.*156G>T (n.*156G>T) | |
17 | g.58273428C= | CA2267631242 | MPO | n.940G= c.732G= (n.732G=) n.647G= c.1607G= (p.Arg536=) c.65G= (p.Arg22=) c.1793G= (p.Arg598=) c.1322G= (p.Arg441=) c.*156G= (n.*156G=) | |
17 | g.58273428C>G | CA400369651 | MPO | n.940G>C c.732G>C (n.732G>C) n.647G>C c.1607G>C (p.Arg536Thr) c.65G>C (p.Arg22Thr) c.1793G>C (p.Arg598Thr) c.1322G>C (p.Arg441Thr) c.*156G>C (n.*156G>C) | |
17 | g.58273428C>T | CA400369653 | MPO | n.940G>A c.732G>A (n.732G>A) n.647G>A c.1607G>A (p.Arg536Lys) c.65G>A (p.Arg22Lys) c.1793G>A (p.Arg598Lys) c.1322G>A (p.Arg441Lys) c.*156G>A (n.*156G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.58273429T>A | CA400369655 | MPO | n.939A>T c.731A>T (n.731A>T) n.646A>T c.1606A>T (p.Arg536Trp) c.64A>T (p.Arg22Trp) c.1792A>T (p.Arg598Trp) c.1321A>T (p.Arg441Trp) c.*155A>T (n.*155A>T) | |
17 | g.58273429T>C | CA400369658 | MPO | n.939A>G c.731A>G (n.731A>G) n.646A>G c.1606A>G (p.Arg536Gly) c.64A>G (p.Arg22Gly) c.1792A>G (p.Arg598Gly) c.1321A>G (p.Arg441Gly) c.*155A>G (n.*155A>G) | |
17 | g.58273429T>G | CA501022128 | MPO | n.939A>C c.731A>C (n.731A>C) n.646A>C c.1606A>C (p.Arg536=) c.64A>C (p.Arg22=) c.1792A>C (p.Arg598=) c.1321A>C (p.Arg441=) c.*155A>C (n.*155A>C) | |
17 | g.58273430C>A | CA400369660 | MPO | n.938G>T c.730G>T (n.730G>T) n.645G>T c.1605G>T (p.Trp535Cys) c.63G>T (p.Trp21Cys) c.1791G>T (p.Trp597Cys) c.1320G>T (p.Trp440Cys) c.*154G>T (n.*154G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.58273430C= | CA2267631243 | MPO | n.938G= c.730G= (n.730G=) n.645G= c.1605G= (p.Trp535=) c.63G= (p.Trp21=) c.1791G= (p.Trp597=) c.1320G= (p.Trp440=) c.*154G= (n.*154G=) | |
17 | g.58273430C>G | CA400369662 | MPO | n.938G>C c.730G>C (n.730G>C) n.645G>C c.1605G>C (p.Trp535Cys) c.63G>C (p.Trp21Cys) c.1791G>C (p.Trp597Cys) c.1320G>C (p.Trp440Cys) c.*154G>C (n.*154G>C) | |
17 | g.58273430C>T | CA400369663 | MPO | n.938G>A c.730G>A (n.730G>A) n.645G>A c.1605G>A (p.Trp535Ter) c.63G>A (p.Trp21Ter) c.1791G>A (p.Trp597Ter) c.1320G>A (p.Trp440Ter) c.*154G>A (n.*154G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.58273431C>A | CA400369665 | MPO | n.937G>T c.729G>T (n.729G>T) n.644G>T c.1604G>T (p.Trp535Leu) c.62G>T (p.Trp21Leu) c.1790G>T (p.Trp597Leu) c.1319G>T (p.Trp440Leu) c.*153G>T (n.*153G>T) | |
17 | g.58273431C>G | CA400369668 | MPO | n.937G>C c.729G>C (n.729G>C) n.644G>C c.1604G>C (p.Trp535Ser) c.62G>C (p.Trp21Ser) c.1790G>C (p.Trp597Ser) c.1319G>C (p.Trp440Ser) c.*153G>C (n.*153G>C) | |
17 | g.58273431C>T | CA400369669 | MPO | n.937G>A c.729G>A (n.729G>A) n.644G>A c.1604G>A (p.Trp535Ter) c.62G>A (p.Trp21Ter) c.1790G>A (p.Trp597Ter) c.1319G>A (p.Trp440Ter) c.*153G>A (n.*153G>A) | |
17 | g.58273432A>C | CA400369672 | MPO | n.936T>G c.728T>G (n.728T>G) n.643T>G c.1603T>G (p.Trp535Gly) c.61T>G (p.Trp21Gly) c.1789T>G (p.Trp597Gly) c.1318T>G (p.Trp440Gly) c.*152T>G (n.*152T>G) | |
17 | g.58273432A>G | CA400369673 | MPO | n.936T>C c.728T>C (n.728T>C) n.643T>C c.1603T>C (p.Trp535Arg) c.61T>C (p.Trp21Arg) c.1789T>C (p.Trp597Arg) c.1318T>C (p.Trp440Arg) c.*152T>C (n.*152T>C) | |
17 | g.58273432A>T | CA400369676 | MPO | n.936T>A c.728T>A (n.728T>A) n.643T>A c.1603T>A (p.Trp535Arg) c.61T>A (p.Trp21Arg) c.1789T>A (p.Trp597Arg) c.1318T>A (p.Trp440Arg) c.*152T>A (n.*152T>A) | COSMIC |
17 | g.58273433G>A | CA501022151 | MPO | n.935C>T c.727C>T (n.727C>T) n.642C>T c.1602C>T (p.Ser534=) c.60C>T (p.Ser20=) c.1788C>T (p.Ser596=) c.1317C>T (p.Ser439=) c.*151C>T (n.*151C>T) | |
17 | g.58273433G>C | CA501022148 | MPO | n.935C>G c.727C>G (n.727C>G) n.642C>G c.1602C>G (p.Ser534=) c.60C>G (p.Ser20=) c.1788C>G (p.Ser596=) c.1317C>G (p.Ser439=) c.*151C>G (n.*151C>G) | dbSNP |
17 | g.58273433G= | CA2267631244 | MPO | n.935C= c.727C= (n.727C=) n.642C= c.1602C= (p.Ser534=) c.60C= (p.Ser20=) c.1788C= (p.Ser596=) c.1317C= (p.Ser439=) c.*151C= (n.*151C=) | |
17 | g.58273433G>T | CA501022145 | MPO | n.935C>A c.727C>A (n.727C>A) n.642C>A c.1602C>A (p.Ser534=) c.60C>A (p.Ser20=) c.1788C>A (p.Ser596=) c.1317C>A (p.Ser439=) c.*151C>A (n.*151C>A) | |
17 | g.58273434G>A | CA400369678 | MPO | n.934C>T c.726C>T (n.726C>T) n.641C>T c.1601C>T (p.Ser534Phe) c.59C>T (p.Ser20Phe) c.1787C>T (p.Ser596Phe) c.1316C>T (p.Ser439Phe) c.*150C>T (n.*150C>T) | |
17 | g.58273434G>C | CA8670587 | MPO | n.934C>G c.726C>G (n.726C>G) n.641C>G c.1601C>G (p.Ser534Cys) c.59C>G (p.Ser20Cys) c.1787C>G (p.Ser596Cys) c.1316C>G (p.Ser439Cys) c.*150C>G (n.*150C>G) | dbSNP ExAC gnomAD v2 |
17 | g.58273434G= | CA2267631245 | MPO | n.934C= c.726C= (n.726C=) n.641C= c.1601C= (p.Ser534=) c.59C= (p.Ser20=) c.1787C= (p.Ser596=) c.1316C= (p.Ser439=) c.*150C= (n.*150C=) | |
17 | g.58273434G>T | CA400369680 | MPO | n.934C>A c.726C>A (n.726C>A) n.641C>A c.1601C>A (p.Ser534Tyr) c.59C>A (p.Ser20Tyr) c.1787C>A (p.Ser596Tyr) c.1316C>A (p.Ser439Tyr) c.*150C>A (n.*150C>A) | |
17 | g.58273435A>C | CA400369681 | MPO | n.933T>G c.725T>G (n.725T>G) n.640T>G c.1600T>G (p.Ser534Ala) c.58T>G (p.Ser20Ala) c.1786T>G (p.Ser596Ala) c.1315T>G (p.Ser439Ala) c.*149T>G (n.*149T>G) | |
17 | g.58273435A>G | CA400369686 | MPO | n.933T>C c.725T>C (n.725T>C) n.640T>C c.1600T>C (p.Ser534Pro) c.58T>C (p.Ser20Pro) c.1786T>C (p.Ser596Pro) c.1315T>C (p.Ser439Pro) c.*149T>C (n.*149T>C) | |
17 | g.58273435A>T | CA400369683 | MPO | n.933T>A c.725T>A (n.725T>A) n.640T>A c.1600T>A (p.Ser534Thr) c.58T>A (p.Ser20Thr) c.1786T>A (p.Ser596Thr) c.1315T>A (p.Ser439Thr) c.*149T>A (n.*149T>A) | |
17 | g.58273436G>A | CA8670588 | MPO | n.932C>T c.724C>T (n.724C>T) n.639C>T c.1599C>T (p.Ala533=) c.57C>T (p.Ala19=) c.1785C>T (p.Ala595=) c.1314C>T (p.Ala438=) c.*148C>T (n.*148C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.58273436G>C | CA501022164 | MPO | n.932C>G c.724C>G (n.724C>G) n.639C>G c.1599C>G (p.Ala533=) c.57C>G (p.Ala19=) c.1785C>G (p.Ala595=) c.1314C>G (p.Ala438=) c.*148C>G (n.*148C>G) | |
17 | g.58273436G= | CA2267631246 | MPO | n.932C= c.724C= (n.724C=) n.639C= c.1599C= (p.Ala533=) c.57C= (p.Ala19=) c.1785C= (p.Ala595=) c.1314C= (p.Ala438=) c.*148C= (n.*148C=) | |
17 | g.58273436G>T | CA501022167 | MPO | n.932C>A c.724C>A (n.724C>A) n.639C>A c.1599C>A (p.Ala533=) c.57C>A (p.Ala19=) c.1785C>A (p.Ala595=) c.1314C>A (p.Ala438=) c.*148C>A (n.*148C>A) | |
17 | g.58273437G>A | CA292012157 | MPO | n.931C>T c.723C>T (n.723C>T) n.638C>T c.1598C>T (p.Ala533Val) c.56C>T (p.Ala19Val) c.1784C>T (p.Ala595Val) c.1313C>T (p.Ala438Val) c.*147C>T (n.*147C>T) | dbSNP |
17 | g.58273437G>C | CA400369690 | MPO | n.931C>G c.723C>G (n.723C>G) n.638C>G c.1598C>G (p.Ala533Gly) c.56C>G (p.Ala19Gly) c.1784C>G (p.Ala595Gly) c.1313C>G (p.Ala438Gly) c.*147C>G (n.*147C>G) | |
17 | g.58273437G= | CA2267631247 | MPO | n.931C= c.723C= (n.723C=) n.638C= c.1598C= (p.Ala533=) c.56C= (p.Ala19=) c.1784C= (p.Ala595=) c.1313C= (p.Ala438=) c.*147C= (n.*147C=) | |
17 | g.58273437G>T | CA400369692 | MPO | n.931C>A c.723C>A (n.723C>A) n.638C>A c.1598C>A (p.Ala533Asp) c.56C>A (p.Ala19Asp) c.1784C>A (p.Ala595Asp) c.1313C>A (p.Ala438Asp) c.*147C>A (n.*147C>A) | |
17 | g.58273438C>A | CA400369695 | MPO | n.930G>T c.722G>T (n.722G>T) n.637G>T c.1597G>T (p.Ala533Ser) c.55G>T (p.Ala19Ser) c.1783G>T (p.Ala595Ser) c.1312G>T (p.Ala438Ser) c.*146G>T (n.*146G>T) | |
17 | g.58273438C>G | CA400369697 | MPO | n.930G>C c.722G>C (n.722G>C) n.637G>C c.1597G>C (p.Ala533Pro) c.55G>C (p.Ala19Pro) c.1783G>C (p.Ala595Pro) c.1312G>C (p.Ala438Pro) c.*146G>C (n.*146G>C) | |
17 | g.58273438C>T | CA400369699 | MPO | n.930G>A c.722G>A (n.722G>A) n.637G>A c.1597G>A (p.Ala533Thr) c.55G>A (p.Ala19Thr) c.1783G>A (p.Ala595Thr) c.1312G>A (p.Ala438Thr) c.*146G>A (n.*146G>A) | |
17 | g.58273438_58273439delinsCA | CA2267631248 | MPO | n.929_930delinsTG c.721_722delinsTG (n.721_722delinsTG) n.636_637delinsTG c.1596_1597delinsTG (p.Phe532=) c.54_55delinsTG (p.Phe18=) c.1782_1783delinsTG (p.Phe594=) c.1311_1312delinsTG (p.Phe437=) c.*145_*146delinsTG (n.*145_*146delinsTG) | |
17 | g.58273439A>C | CA400369701 | MPO | n.929T>G c.721T>G (n.721T>G) n.636T>G c.1596T>G (p.Phe532Leu) c.54T>G (p.Phe18Leu) c.1782T>G (p.Phe594Leu) c.1311T>G (p.Phe437Leu) c.*145T>G (n.*145T>G) | |
17 | g.58273439A>G | CA501022177 | MPO | n.929T>C c.721T>C (n.721T>C) n.636T>C c.1596T>C (p.Phe532=) c.54T>C (p.Phe18=) c.1782T>C (p.Phe594=) c.1311T>C (p.Phe437=) c.*145T>C (n.*145T>C) | |
17 | g.58273439A>T | CA400369703 | MPO | n.929T>A c.721T>A (n.721T>A) n.636T>A c.1596T>A (p.Phe532Leu) c.54T>A (p.Phe18Leu) c.1782T>A (p.Phe594Leu) c.1311T>A (p.Phe437Leu) c.*145T>A (n.*145T>A) | |
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.58273440A>C | CA400369706 | MPO | n.928T>G c.720T>G (n.720T>G) n.635T>G c.1595T>G (p.Phe532Cys) c.53T>G (p.Phe18Cys) c.1781T>G (p.Phe594Cys) c.1310T>G (p.Phe437Cys) c.*144T>G (n.*144T>G) | |
17 | g.58273440A>G | CA400369707 | MPO | n.928T>C c.720T>C (n.720T>C) n.635T>C c.1595T>C (p.Phe532Ser) c.53T>C (p.Phe18Ser) c.1781T>C (p.Phe594Ser) c.1310T>C (p.Phe437Ser) c.*144T>C (n.*144T>C) | |
17 | g.58273440A>T | CA400369709 | MPO | n.928T>A c.720T>A (n.720T>A) n.635T>A c.1595T>A (p.Phe532Tyr) c.53T>A (p.Phe18Tyr) c.1781T>A (p.Phe594Tyr) c.1310T>A (p.Phe437Tyr) c.*144T>A (n.*144T>A) | |
17 | g.58273441A>C | CA400369715 | MPO | n.927T>G c.719T>G (n.719T>G) n.634T>G c.1594T>G (p.Phe532Val) c.52T>G (p.Phe18Val) c.1780T>G (p.Phe594Val) c.1309T>G (p.Phe437Val) c.*143T>G (n.*143T>G) | COSMIC COSMIC |
17 | g.58273441A>G | CA400369712 | MPO | n.927T>C c.719T>C (n.719T>C) n.634T>C c.1594T>C (p.Phe532Leu) c.52T>C (p.Phe18Leu) c.1780T>C (p.Phe594Leu) c.1309T>C (p.Phe437Leu) c.*143T>C (n.*143T>C) | |
17 | g.58273441A>T | CA400369713 | MPO | n.927T>A c.719T>A (n.719T>A) n.634T>A c.1594T>A (p.Phe532Ile) c.52T>A (p.Phe18Ile) c.1780T>A (p.Phe594Ile) c.1309T>A (p.Phe437Ile) c.*143T>A (n.*143T>A) | |
17 | g.58273442A>C | CA400369717 | MPO | n.926T>G c.718T>G (n.718T>G) n.633T>G c.1593T>G (p.Phe531Leu) c.51T>G (p.Phe17Leu) c.1779T>G (p.Phe593Leu) c.1308T>G (p.Phe436Leu) c.*142T>G (n.*142T>G) | |
17 | g.58273442A>G | CA501022192 | MPO | n.926T>C c.718T>C (n.718T>C) n.633T>C c.1593T>C (p.Phe531=) c.51T>C (p.Phe17=) c.1779T>C (p.Phe593=) c.1308T>C (p.Phe436=) c.*142T>C (n.*142T>C) | |
17 | g.58273442A>T | CA400369720 | MPO | n.926T>A c.718T>A (n.718T>A) n.633T>A c.1593T>A (p.Phe531Leu) c.51T>A (p.Phe17Leu) c.1779T>A (p.Phe593Leu) c.1308T>A (p.Phe436Leu) c.*142T>A (n.*142T>A) | |
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.58273469dup | CA2832571607 | MPO | n.903dup c.695dup (n.695dup) n.610dup c.1570dup (p.Arg524ProfsTer21) c.28dup (p.Arg10ProfsTer21) c.1756dup (p.Arg586ProfsTer21) c.1285dup (p.Arg429ProfsTer21) c.*119dup (n.*119dup) | |
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) |