Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25244179_25244194del | CA2658168411 | DNMT3A | c.134_149del c.961_976del (n.961_976del) c.1146_1161del (p.Gln383IlefsTer?) c.1815_1830del (p.Gln606IlefsTer?) c.1248_1263del (p.Gln417IlefsTer?) n.134_149del c.1371_1386del (p.Gln458IlefsTer?) c.1668_1683del (p.Gln557IlefsTer?) c.1650_1665del (p.Gln551IlefsTer?) c.1359_1374del (p.Gln454IlefsTer?) c.1287_1302del (p.Gln430IlefsTer?) n.2153_2168del n.2092_2107del n.2046_2061del | gnomAD v4 |
2 | g.25244181_25244223dup | CA2658168426 | DNMT3A | c.102_144dup c.929_971dup (n.929_971dup) c.1114_1156dup (p.Phe386SerfsTer17) c.1783_1825dup (p.Phe609SerfsTer17) c.1216_1258dup (p.Phe420SerfsTer17) n.102_144dup c.1339_1381dup (p.Phe461SerfsTer17) c.1636_1678dup (p.Phe560SerfsTer17) c.1618_1660dup (p.Phe554SerfsTer17) c.1327_1369dup (p.Phe457SerfsTer17) c.1255_1297dup (p.Phe433SerfsTer17) n.2121_2163dup n.2060_2102dup n.2014_2056dup | gnomAD v4 |
2 | g.25244193G>A | CA346071736 | DNMT3A | c.132C>T c.959C>T (n.959C>T) c.1144C>T (p.Leu382Phe) c.1813C>T (p.Leu605Phe) c.1246C>T (p.Leu416Phe) n.132C>T c.1369C>T (p.Leu457Phe) c.1666C>T (p.Leu556Phe) c.1648C>T (p.Leu550Phe) c.1357C>T (p.Leu453Phe) c.1285C>T (p.Leu429Phe) n.2151C>T n.2090C>T n.2044C>T | |
2 | g.25244193G>C | CA346071735 | DNMT3A | c.132C>G c.959C>G (n.959C>G) c.1144C>G (p.Leu382Val) c.1813C>G (p.Leu605Val) c.1246C>G (p.Leu416Val) n.132C>G c.1369C>G (p.Leu457Val) c.1666C>G (p.Leu556Val) c.1648C>G (p.Leu550Val) c.1357C>G (p.Leu453Val) c.1285C>G (p.Leu429Val) n.2151C>G n.2090C>G n.2044C>G | |
2 | g.25244193G>T | CA346071734 | DNMT3A | c.132C>A c.959C>A (n.959C>A) c.1144C>A (p.Leu382Ile) c.1813C>A (p.Leu605Ile) c.1246C>A (p.Leu416Ile) n.132C>A c.1369C>A (p.Leu457Ile) c.1666C>A (p.Leu556Ile) c.1648C>A (p.Leu550Ile) c.1357C>A (p.Leu453Ile) c.1285C>A (p.Leu429Ile) n.2151C>A n.2090C>A n.2044C>A | |
2 | g.25244194_25244198dup | CA2658168456 | DNMT3A | c.128_132dup c.955_959dup (n.955_959dup) c.1140_1144dup (p.Leu382ProfsTer?) c.1809_1813dup (p.Leu605ProfsTer?) c.1242_1246dup (p.Leu416ProfsTer?) n.128_132dup c.1365_1369dup (p.Leu457ProfsTer?) c.1662_1666dup (p.Leu556ProfsTer?) c.1644_1648dup (p.Leu550ProfsTer?) c.1353_1357dup (p.Leu453ProfsTer?) c.1281_1285dup (p.Leu429ProfsTer?) n.2147_2151dup n.2086_2090dup n.2040_2044dup | gnomAD v4 |
2 | g.25244194C>A | CA425182237 | DNMT3A | c.131G>T c.958G>T (n.958G>T) c.1143G>T (p.Arg381=) c.1812G>T (p.Arg604=) c.1245G>T (p.Arg415=) n.131G>T c.1368G>T (p.Arg456=) c.1665G>T (p.Arg555=) c.1647G>T (p.Arg549=) c.1356G>T (p.Arg452=) c.1284G>T (p.Arg428=) n.2150G>T n.2089G>T n.2043G>T | |
2 | g.25244194C>G | CA425182238 | DNMT3A | c.131G>C c.958G>C (n.958G>C) c.1143G>C (p.Arg381=) c.1812G>C (p.Arg604=) c.1245G>C (p.Arg415=) n.131G>C c.1368G>C (p.Arg456=) c.1665G>C (p.Arg555=) c.1647G>C (p.Arg549=) c.1356G>C (p.Arg452=) c.1284G>C (p.Arg428=) n.2150G>C n.2089G>C n.2043G>C | |
2 | g.25244194C>T | CA425182239 | DNMT3A | c.131G>A c.958G>A (n.958G>A) c.1143G>A (p.Arg381=) c.1812G>A (p.Arg604=) c.1245G>A (p.Arg415=) n.131G>A c.1368G>A (p.Arg456=) c.1665G>A (p.Arg555=) c.1647G>A (p.Arg549=) c.1356G>A (p.Arg452=) c.1284G>A (p.Arg428=) n.2150G>A n.2089G>A n.2043G>A | dbSNP gnomAD v4 |
2 | g.25244195del | CA2658168457 | DNMT3A | c.131del c.958del (n.958del) c.1143del (p.Leu382SerfsTer?) c.1812del (p.Leu605SerfsTer?) c.1245del (p.Leu416SerfsTer?) n.131del c.1368del (p.Leu457SerfsTer?) c.1665del (p.Leu556SerfsTer?) c.1647del (p.Leu550SerfsTer?) c.1356del (p.Leu453SerfsTer?) c.1284del (p.Leu429SerfsTer?) n.2150del n.2089del n.2043del | gnomAD v4 |
2 | g.25244195C>A | CA346071737 | DNMT3A | c.130G>T c.957G>T (n.957G>T) c.1142G>T (p.Arg381Leu) c.1811G>T (p.Arg604Leu) c.1244G>T (p.Arg415Leu) n.130G>T c.1367G>T (p.Arg456Leu) c.1664G>T (p.Arg555Leu) c.1646G>T (p.Arg549Leu) c.1355G>T (p.Arg452Leu) c.1283G>T (p.Arg428Leu) n.2149G>T n.2088G>T n.2042G>T | |
2 | g.25244195C= | CA1239262760 | DNMT3A | c.130G= c.957G= (n.957G=) c.1142G= (p.Arg381=) c.1811G= (p.Arg604=) c.1244G= (p.Arg415=) n.130G= c.1367G= (p.Arg456=) c.1664G= (p.Arg555=) c.1646G= (p.Arg549=) c.1355G= (p.Arg452=) c.1283G= (p.Arg428=) n.2149G= n.2088G= n.2042G= | |
2 | g.25244195C>G | CA346071738 | DNMT3A | c.130G>C c.957G>C (n.957G>C) c.1142G>C (p.Arg381Pro) c.1811G>C (p.Arg604Pro) c.1244G>C (p.Arg415Pro) n.130G>C c.1367G>C (p.Arg456Pro) c.1664G>C (p.Arg555Pro) c.1646G>C (p.Arg549Pro) c.1355G>C (p.Arg452Pro) c.1283G>C (p.Arg428Pro) n.2149G>C n.2088G>C n.2042G>C | gnomAD v4 |
2 | g.25244195C>T | CA1555868 | DNMT3A | c.130G>A c.957G>A (n.957G>A) c.1142G>A (p.Arg381Gln) c.1811G>A (p.Arg604Gln) c.1244G>A (p.Arg415Gln) n.130G>A c.1367G>A (p.Arg456Gln) c.1664G>A (p.Arg555Gln) c.1646G>A (p.Arg549Gln) c.1355G>A (p.Arg452Gln) c.1283G>A (p.Arg428Gln) n.2149G>A n.2088G>A n.2042G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.25244195_25244196delinsCG | CA1239262761 | DNMT3A | c.129_130delinsCG c.956_957delinsCG (n.956_957delinsCG) c.1141_1142delinsCG (p.Arg381=) c.1810_1811delinsCG (p.Arg604=) c.1243_1244delinsCG (p.Arg415=) n.129_130delinsCG c.1366_1367delinsCG (p.Arg456=) c.1663_1664delinsCG (p.Arg555=) c.1645_1646delinsCG (p.Arg549=) c.1354_1355delinsCG (p.Arg452=) c.1282_1283delinsCG (p.Arg428=) n.2148_2149delinsCG n.2087_2088delinsCG n.2041_2042delinsCG | |
2 | g.25244196G>A | CA346071739 | DNMT3A | c.129C>T c.956C>T (n.956C>T) c.1141C>T (p.Arg381Trp) c.1810C>T (p.Arg604Trp) c.1243C>T (p.Arg415Trp) n.129C>T c.1366C>T (p.Arg456Trp) c.1663C>T (p.Arg555Trp) c.1645C>T (p.Arg549Trp) c.1354C>T (p.Arg452Trp) c.1282C>T (p.Arg428Trp) n.2148C>T n.2087C>T n.2041C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25244196G>C | CA346071740 | DNMT3A | c.129C>G c.956C>G (n.956C>G) c.1141C>G (p.Arg381Gly) c.1810C>G (p.Arg604Gly) c.1243C>G (p.Arg415Gly) n.129C>G c.1366C>G (p.Arg456Gly) c.1663C>G (p.Arg555Gly) c.1645C>G (p.Arg549Gly) c.1354C>G (p.Arg452Gly) c.1282C>G (p.Arg428Gly) n.2148C>G n.2087C>G n.2041C>G | |
2 | g.25244196G= | CA1239262766 | DNMT3A | c.129C= c.956C= (n.956C=) c.1141C= (p.Arg381=) c.1810C= (p.Arg604=) c.1243C= (p.Arg415=) n.129C= c.1366C= (p.Arg456=) c.1663C= (p.Arg555=) c.1645C= (p.Arg549=) c.1354C= (p.Arg452=) c.1282C= (p.Arg428=) n.2148C= n.2087C= n.2041C= | |
2 | g.25244196G>T | CA425182243 | DNMT3A | c.129C>A c.956C>A (n.956C>A) c.1141C>A (p.Arg381=) c.1810C>A (p.Arg604=) c.1243C>A (p.Arg415=) n.129C>A c.1366C>A (p.Arg456=) c.1663C>A (p.Arg555=) c.1645C>A (p.Arg549=) c.1354C>A (p.Arg452=) c.1282C>A (p.Arg428=) n.2148C>A n.2087C>A n.2041C>A | |
2 | g.25244198del | CA1555867 | DNMT3A | c.129del c.956del (n.956del) c.1141del (p.Arg381GlyfsTer?) c.1810del (p.Arg604GlyfsTer?) c.1243del (p.Arg415GlyfsTer?) n.129del c.1366del (p.Arg456GlyfsTer?) c.1663del (p.Arg555GlyfsTer?) c.1645del (p.Arg549GlyfsTer?) c.1354del (p.Arg452GlyfsTer?) c.1282del (p.Arg428GlyfsTer?) n.2148del n.2087del n.2041del | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.25244197G>A | CA425182244 | DNMT3A | c.128C>T c.955C>T (n.955C>T) c.1140C>T (p.Ser380=) c.1809C>T (p.Ser603=) c.1242C>T (p.Ser414=) n.128C>T c.1365C>T (p.Ser455=) c.1662C>T (p.Ser554=) c.1644C>T (p.Ser548=) c.1353C>T (p.Ser451=) c.1281C>T (p.Ser427=) n.2147C>T n.2086C>T n.2040C>T | dbSNP |
2 | g.25244197G>C | CA425182245 | DNMT3A | c.128C>G c.955C>G (n.955C>G) c.1140C>G (p.Ser380=) c.1809C>G (p.Ser603=) c.1242C>G (p.Ser414=) n.128C>G c.1365C>G (p.Ser455=) c.1662C>G (p.Ser554=) c.1644C>G (p.Ser548=) c.1353C>G (p.Ser451=) c.1281C>G (p.Ser427=) n.2147C>G n.2086C>G n.2040C>G | |
2 | g.25244197G>T | CA425182246 | DNMT3A | c.128C>A c.955C>A (n.955C>A) c.1140C>A (p.Ser380=) c.1809C>A (p.Ser603=) c.1242C>A (p.Ser414=) n.128C>A c.1365C>A (p.Ser455=) c.1662C>A (p.Ser554=) c.1644C>A (p.Ser548=) c.1353C>A (p.Ser451=) c.1281C>A (p.Ser427=) n.2147C>A n.2086C>A n.2040C>A | gnomAD v4 |
2 | g.25244198G>A | CA346071743 | DNMT3A | c.127C>T c.954C>T (n.954C>T) c.1139C>T (p.Ser380Phe) c.1808C>T (p.Ser603Phe) c.1241C>T (p.Ser414Phe) n.127C>T c.1364C>T (p.Ser455Phe) c.1661C>T (p.Ser554Phe) c.1643C>T (p.Ser548Phe) c.1352C>T (p.Ser451Phe) c.1280C>T (p.Ser427Phe) n.2146C>T n.2085C>T n.2039C>T | |
2 | g.25244198G>C | CA346071742 | DNMT3A | c.127C>G c.954C>G (n.954C>G) c.1139C>G (p.Ser380Cys) c.1808C>G (p.Ser603Cys) c.1241C>G (p.Ser414Cys) n.127C>G c.1364C>G (p.Ser455Cys) c.1661C>G (p.Ser554Cys) c.1643C>G (p.Ser548Cys) c.1352C>G (p.Ser451Cys) c.1280C>G (p.Ser427Cys) n.2146C>G n.2085C>G n.2039C>G | |
2 | g.25244198G>T | CA346071741 | DNMT3A | c.127C>A c.954C>A (n.954C>A) c.1139C>A (p.Ser380Tyr) c.1808C>A (p.Ser603Tyr) c.1241C>A (p.Ser414Tyr) n.127C>A c.1364C>A (p.Ser455Tyr) c.1661C>A (p.Ser554Tyr) c.1643C>A (p.Ser548Tyr) c.1352C>A (p.Ser451Tyr) c.1280C>A (p.Ser427Tyr) n.2146C>A n.2085C>A n.2039C>A | |
2 | g.25244199A>C | CA346071744 | DNMT3A | c.126T>G c.953T>G (n.953T>G) c.1138T>G (p.Ser380Ala) c.1807T>G (p.Ser603Ala) c.1240T>G (p.Ser414Ala) n.126T>G c.1363T>G (p.Ser455Ala) c.1660T>G (p.Ser554Ala) c.1642T>G (p.Ser548Ala) c.1351T>G (p.Ser451Ala) c.1279T>G (p.Ser427Ala) n.2145T>G n.2084T>G n.2038T>G | |
2 | g.25244199A>G | CA346071745 | DNMT3A | c.126T>C c.953T>C (n.953T>C) c.1138T>C (p.Ser380Pro) c.1807T>C (p.Ser603Pro) c.1240T>C (p.Ser414Pro) n.126T>C c.1363T>C (p.Ser455Pro) c.1660T>C (p.Ser554Pro) c.1642T>C (p.Ser548Pro) c.1351T>C (p.Ser451Pro) c.1279T>C (p.Ser427Pro) n.2145T>C n.2084T>C n.2038T>C | dbSNP |
2 | g.25244199A>T | CA346071746 | DNMT3A | c.126T>A c.953T>A (n.953T>A) c.1138T>A (p.Ser380Thr) c.1807T>A (p.Ser603Thr) c.1240T>A (p.Ser414Thr) n.126T>A c.1363T>A (p.Ser455Thr) c.1660T>A (p.Ser554Thr) c.1642T>A (p.Ser548Thr) c.1351T>A (p.Ser451Thr) c.1279T>A (p.Ser427Thr) n.2145T>A n.2084T>A n.2038T>A | |
2 | g.25244200G>A | CA425182252 | DNMT3A | c.125C>T c.952C>T (n.952C>T) c.1137C>T (p.Pro379=) c.1806C>T (p.Pro602=) c.1239C>T (p.Pro413=) n.125C>T c.1362C>T (p.Pro454=) c.1659C>T (p.Pro553=) c.1641C>T (p.Pro547=) c.1350C>T (p.Pro450=) c.1278C>T (p.Pro426=) n.2144C>T n.2083C>T n.2037C>T | dbSNP |
2 | g.25244200G>C | CA425182251 | DNMT3A | c.125C>G c.952C>G (n.952C>G) c.1137C>G (p.Pro379=) c.1806C>G (p.Pro602=) c.1239C>G (p.Pro413=) n.125C>G c.1362C>G (p.Pro454=) c.1659C>G (p.Pro553=) c.1641C>G (p.Pro547=) c.1350C>G (p.Pro450=) c.1278C>G (p.Pro426=) n.2144C>G n.2083C>G n.2037C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244200G= | CA1239262771 | DNMT3A | c.125C= c.952C= (n.952C=) c.1137C= (p.Pro379=) c.1806C= (p.Pro602=) c.1239C= (p.Pro413=) n.125C= c.1362C= (p.Pro454=) c.1659C= (p.Pro553=) c.1641C= (p.Pro547=) c.1350C= (p.Pro450=) c.1278C= (p.Pro426=) n.2144C= n.2083C= n.2037C= | |
2 | g.25244200G>T | CA425182250 | DNMT3A | c.125C>A c.952C>A (n.952C>A) c.1137C>A (p.Pro379=) c.1806C>A (p.Pro602=) c.1239C>A (p.Pro413=) n.125C>A c.1362C>A (p.Pro454=) c.1659C>A (p.Pro553=) c.1641C>A (p.Pro547=) c.1350C>A (p.Pro450=) c.1278C>A (p.Pro426=) n.2144C>A n.2083C>A n.2037C>A | |
2 | g.25244202del | CA2658168459 | DNMT3A | c.125del c.952del (n.952del) c.1137del (p.Ser380ProfsTer?) c.1806del (p.Ser603ProfsTer?) c.1239del (p.Ser414ProfsTer?) n.125del c.1362del (p.Ser455ProfsTer?) c.1659del (p.Ser554ProfsTer?) c.1641del (p.Ser548ProfsTer?) c.1350del (p.Ser451ProfsTer?) c.1278del (p.Ser427ProfsTer?) n.2144del n.2083del n.2037del | gnomAD v4 |
2 | g.25244201_25244202del | CA2658168458 | DNMT3A | c.124_125del c.951_952del (n.951_952del) c.1136_1137del (p.Pro379LeufsTer9) c.1805_1806del (p.Pro602LeufsTer9) c.1238_1239del (p.Pro413LeufsTer9) n.124_125del c.1361_1362del (p.Pro454LeufsTer9) c.1658_1659del (p.Pro553LeufsTer9) c.1640_1641del (p.Pro547LeufsTer9) c.1349_1350del (p.Pro450LeufsTer9) c.1277_1278del (p.Pro426LeufsTer9) n.2143_2144del n.2082_2083del n.2036_2037del | gnomAD v4 |
2 | g.25244200_25244203del | CA2658168462 | DNMT3A | c.122_125del c.949_952del (n.949_952del) c.1134_1137del (p.Trp378CysfsTer?) c.1803_1806del (p.Trp601CysfsTer?) c.1236_1239del (p.Trp412CysfsTer?) n.122_125del c.1359_1362del (p.Trp453CysfsTer?) c.1656_1659del (p.Trp552CysfsTer?) c.1638_1641del (p.Trp546CysfsTer?) c.1347_1350del (p.Trp449CysfsTer?) c.1275_1278del (p.Trp425CysfsTer?) n.2141_2144del n.2080_2083del n.2034_2037del | gnomAD v4 |
2 | g.25244200_25244206del | CA2658168463 | DNMT3A | c.119_125del c.946_952del (n.946_952del) c.1131_1137del (p.Trp378ProfsTer?) c.1800_1806del (p.Trp601ProfsTer?) c.1233_1239del (p.Trp412ProfsTer?) n.119_125del c.1356_1362del (p.Trp453ProfsTer?) c.1653_1659del (p.Trp552ProfsTer?) c.1635_1641del (p.Trp546ProfsTer?) c.1344_1350del (p.Trp449ProfsTer?) c.1272_1278del (p.Trp425ProfsTer?) n.2138_2144del n.2077_2083del n.2031_2037del | gnomAD v4 |
2 | g.25244201G>A | CA346071747 | DNMT3A | c.124C>T c.951C>T (n.951C>T) c.1136C>T (p.Pro379Leu) c.1805C>T (p.Pro602Leu) c.1238C>T (p.Pro413Leu) n.124C>T c.1361C>T (p.Pro454Leu) c.1658C>T (p.Pro553Leu) c.1640C>T (p.Pro547Leu) c.1349C>T (p.Pro450Leu) c.1277C>T (p.Pro426Leu) n.2143C>T n.2082C>T n.2036C>T | |
2 | g.25244201G>C | CA346071748 | DNMT3A | c.124C>G c.951C>G (n.951C>G) c.1136C>G (p.Pro379Arg) c.1805C>G (p.Pro602Arg) c.1238C>G (p.Pro413Arg) n.124C>G c.1361C>G (p.Pro454Arg) c.1658C>G (p.Pro553Arg) c.1640C>G (p.Pro547Arg) c.1349C>G (p.Pro450Arg) c.1277C>G (p.Pro426Arg) n.2143C>G n.2082C>G n.2036C>G | |
2 | g.25244201G>T | CA346071749 | DNMT3A | c.124C>A c.951C>A (n.951C>A) c.1136C>A (p.Pro379His) c.1805C>A (p.Pro602His) c.1238C>A (p.Pro413His) n.124C>A c.1361C>A (p.Pro454His) c.1658C>A (p.Pro553His) c.1640C>A (p.Pro547His) c.1349C>A (p.Pro450His) c.1277C>A (p.Pro426His) n.2143C>A n.2082C>A n.2036C>A | |
2 | g.25244202G>A | CA346071750 | DNMT3A | c.123C>T c.950C>T (n.950C>T) c.1135C>T (p.Pro379Ser) c.1804C>T (p.Pro602Ser) c.1237C>T (p.Pro413Ser) n.123C>T c.1360C>T (p.Pro454Ser) c.1657C>T (p.Pro553Ser) c.1639C>T (p.Pro547Ser) c.1348C>T (p.Pro450Ser) c.1276C>T (p.Pro426Ser) n.2142C>T n.2081C>T n.2035C>T | dbSNP |
2 | g.25244202G>C | CA346071752 | DNMT3A | c.123C>G c.950C>G (n.950C>G) c.1135C>G (p.Pro379Ala) c.1804C>G (p.Pro602Ala) c.1237C>G (p.Pro413Ala) n.123C>G c.1360C>G (p.Pro454Ala) c.1657C>G (p.Pro553Ala) c.1639C>G (p.Pro547Ala) c.1348C>G (p.Pro450Ala) c.1276C>G (p.Pro426Ala) n.2142C>G n.2081C>G n.2035C>G | |
2 | g.25244202G>T | CA346071751 | DNMT3A | c.123C>A c.950C>A (n.950C>A) c.1135C>A (p.Pro379Thr) c.1804C>A (p.Pro602Thr) c.1237C>A (p.Pro413Thr) n.123C>A c.1360C>A (p.Pro454Thr) c.1657C>A (p.Pro553Thr) c.1639C>A (p.Pro547Thr) c.1348C>A (p.Pro450Thr) c.1276C>A (p.Pro426Thr) n.2142C>A n.2081C>A n.2035C>A | |
2 | g.25244202_25244208del | CA2699060369 | DNMT3A | c.117_123del c.944_950del (n.944_950del) c.1129_1135del (p.Asp377ProfsTer?) c.1798_1804del (p.Asp600ProfsTer?) c.1231_1237del (p.Asp411ProfsTer?) n.117_123del c.1354_1360del (p.Asp452ProfsTer?) c.1651_1657del (p.Asp551ProfsTer?) c.1633_1639del (p.Asp545ProfsTer?) c.1342_1348del (p.Asp448ProfsTer?) c.1270_1276del (p.Asp424ProfsTer?) n.2136_2142del n.2075_2081del n.2029_2035del | dbSNP |
2 | g.25244203C>A | CA346071753 | DNMT3A | c.122G>T c.949G>T (n.949G>T) c.1134G>T (p.Trp378Cys) c.1803G>T (p.Trp601Cys) c.1236G>T (p.Trp412Cys) n.122G>T c.1359G>T (p.Trp453Cys) c.1656G>T (p.Trp552Cys) c.1638G>T (p.Trp546Cys) c.1347G>T (p.Trp449Cys) c.1275G>T (p.Trp425Cys) n.2141G>T n.2080G>T n.2034G>T | |
2 | g.25244203C= | CA1239262778 | DNMT3A | c.122G= c.949G= (n.949G=) c.1134G= (p.Trp378=) c.1803G= (p.Trp601=) c.1236G= (p.Trp412=) n.122G= c.1359G= (p.Trp453=) c.1656G= (p.Trp552=) c.1638G= (p.Trp546=) c.1347G= (p.Trp449=) c.1275G= (p.Trp425=) n.2141G= n.2080G= n.2034G= | |
2 | g.25244203C>G | CA346071754 | DNMT3A | c.122G>C c.949G>C (n.949G>C) c.1134G>C (p.Trp378Cys) c.1803G>C (p.Trp601Cys) c.1236G>C (p.Trp412Cys) n.122G>C c.1359G>C (p.Trp453Cys) c.1656G>C (p.Trp552Cys) c.1638G>C (p.Trp546Cys) c.1347G>C (p.Trp449Cys) c.1275G>C (p.Trp425Cys) n.2141G>C n.2080G>C n.2034G>C | |
2 | g.25244203C>T | CA1555869 | DNMT3A | c.122G>A c.949G>A (n.949G>A) c.1134G>A (p.Trp378Ter) c.1803G>A (p.Trp601Ter) c.1236G>A (p.Trp412Ter) n.122G>A c.1359G>A (p.Trp453Ter) c.1656G>A (p.Trp552Ter) c.1638G>A (p.Trp546Ter) c.1347G>A (p.Trp449Ter) c.1275G>A (p.Trp425Ter) n.2141G>A n.2080G>A n.2034G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25244205_25244209del | CA2658168467 | DNMT3A | c.118_122del c.945_949del (n.945_949del) c.1130_1134del (p.Asp377AlafsTer10) c.1799_1803del (p.Asp600AlafsTer10) c.1232_1236del (p.Asp411AlafsTer10) n.118_122del c.1355_1359del (p.Asp452AlafsTer10) c.1652_1656del (p.Asp551AlafsTer10) c.1634_1638del (p.Asp545AlafsTer10) c.1343_1347del (p.Asp448AlafsTer10) c.1271_1275del (p.Asp424AlafsTer10) n.2137_2141del n.2076_2080del n.2030_2034del | gnomAD v4 |
2 | g.25244204C>A | CA346071755 | DNMT3A | c.121G>T c.948G>T (n.948G>T) c.1133G>T (p.Trp378Leu) c.1802G>T (p.Trp601Leu) c.1235G>T (p.Trp412Leu) n.121G>T c.1358G>T (p.Trp453Leu) c.1655G>T (p.Trp552Leu) c.1637G>T (p.Trp546Leu) c.1346G>T (p.Trp449Leu) c.1274G>T (p.Trp425Leu) n.2140G>T n.2079G>T n.2033G>T | |
2 | g.25244204C= | CA1239262782 | DNMT3A | c.121G= c.948G= (n.948G=) c.1133G= (p.Trp378=) c.1802G= (p.Trp601=) c.1235G= (p.Trp412=) n.121G= c.1358G= (p.Trp453=) c.1655G= (p.Trp552=) c.1637G= (p.Trp546=) c.1346G= (p.Trp449=) c.1274G= (p.Trp425=) n.2140G= n.2079G= n.2033G= | |
2 | g.25244204C>G | CA346071756 | DNMT3A | c.121G>C c.948G>C (n.948G>C) c.1133G>C (p.Trp378Ser) c.1802G>C (p.Trp601Ser) c.1235G>C (p.Trp412Ser) n.121G>C c.1358G>C (p.Trp453Ser) c.1655G>C (p.Trp552Ser) c.1637G>C (p.Trp546Ser) c.1346G>C (p.Trp449Ser) c.1274G>C (p.Trp425Ser) n.2140G>C n.2079G>C n.2033G>C | |
2 | g.25244204C>T | CA43703281 | DNMT3A | c.121G>A c.948G>A (n.948G>A) c.1133G>A (p.Trp378Ter) c.1802G>A (p.Trp601Ter) c.1235G>A (p.Trp412Ter) n.121G>A c.1358G>A (p.Trp453Ter) c.1655G>A (p.Trp552Ter) c.1637G>A (p.Trp546Ter) c.1346G>A (p.Trp449Ter) c.1274G>A (p.Trp425Ter) n.2140G>A n.2079G>A n.2033G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244205A>C | CA346071757 | DNMT3A | c.120T>G c.947T>G (n.947T>G) c.1132T>G (p.Trp378Gly) c.1801T>G (p.Trp601Gly) c.1234T>G (p.Trp412Gly) n.120T>G c.1357T>G (p.Trp453Gly) c.1654T>G (p.Trp552Gly) c.1636T>G (p.Trp546Gly) c.1345T>G (p.Trp449Gly) c.1273T>G (p.Trp425Gly) n.2139T>G n.2078T>G n.2032T>G | |
2 | g.25244205A>G | CA346071758 | DNMT3A | c.120T>C c.947T>C (n.947T>C) c.1132T>C (p.Trp378Arg) c.1801T>C (p.Trp601Arg) c.1234T>C (p.Trp412Arg) n.120T>C c.1357T>C (p.Trp453Arg) c.1654T>C (p.Trp552Arg) c.1636T>C (p.Trp546Arg) c.1345T>C (p.Trp449Arg) c.1273T>C (p.Trp425Arg) n.2139T>C n.2078T>C n.2032T>C | |
2 | g.25244205A>T | CA346071759 | DNMT3A | c.120T>A c.947T>A (n.947T>A) c.1132T>A (p.Trp378Arg) c.1801T>A (p.Trp601Arg) c.1234T>A (p.Trp412Arg) n.120T>A c.1357T>A (p.Trp453Arg) c.1654T>A (p.Trp552Arg) c.1636T>A (p.Trp546Arg) c.1345T>A (p.Trp449Arg) c.1273T>A (p.Trp425Arg) n.2139T>A n.2078T>A n.2032T>A | |
2 | g.25244206G>A | CA425182257 | DNMT3A | c.119C>T c.946C>T (n.946C>T) c.1131C>T (p.Asp377=) c.1800C>T (p.Asp600=) c.1233C>T (p.Asp411=) n.119C>T c.1356C>T (p.Asp452=) c.1653C>T (p.Asp551=) c.1635C>T (p.Asp545=) c.1344C>T (p.Asp448=) c.1272C>T (p.Asp424=) n.2138C>T n.2077C>T n.2031C>T | dbSNP |
2 | g.25244206G>C | CA346071760 | DNMT3A | c.119C>G c.946C>G (n.946C>G) c.1131C>G (p.Asp377Glu) c.1800C>G (p.Asp600Glu) c.1233C>G (p.Asp411Glu) n.119C>G c.1356C>G (p.Asp452Glu) c.1653C>G (p.Asp551Glu) c.1635C>G (p.Asp545Glu) c.1344C>G (p.Asp448Glu) c.1272C>G (p.Asp424Glu) n.2138C>G n.2077C>G n.2031C>G | dbSNP |
2 | g.25244206G>T | CA346071761 | DNMT3A | c.119C>A c.946C>A (n.946C>A) c.1131C>A (p.Asp377Glu) c.1800C>A (p.Asp600Glu) c.1233C>A (p.Asp411Glu) n.119C>A c.1356C>A (p.Asp452Glu) c.1653C>A (p.Asp551Glu) c.1635C>A (p.Asp545Glu) c.1344C>A (p.Asp448Glu) c.1272C>A (p.Asp424Glu) n.2138C>A n.2077C>A n.2031C>A | |
2 | g.25244207T>A | CA346071762 | DNMT3A | c.118A>T c.945A>T (n.945A>T) c.1130A>T (p.Asp377Val) c.1799A>T (p.Asp600Val) c.1232A>T (p.Asp411Val) n.118A>T c.1355A>T (p.Asp452Val) c.1652A>T (p.Asp551Val) c.1634A>T (p.Asp545Val) c.1343A>T (p.Asp448Val) c.1271A>T (p.Asp424Val) n.2137A>T n.2076A>T n.2030A>T | |
2 | g.25244207T>C | CA346071764 | DNMT3A | c.118A>G c.945A>G (n.945A>G) c.1130A>G (p.Asp377Gly) c.1799A>G (p.Asp600Gly) c.1232A>G (p.Asp411Gly) n.118A>G c.1355A>G (p.Asp452Gly) c.1652A>G (p.Asp551Gly) c.1634A>G (p.Asp545Gly) c.1343A>G (p.Asp448Gly) c.1271A>G (p.Asp424Gly) n.2137A>G n.2076A>G n.2030A>G | dbSNP |
2 | g.25244207T>G | CA346071763 | DNMT3A | c.118A>C c.945A>C (n.945A>C) c.1130A>C (p.Asp377Ala) c.1799A>C (p.Asp600Ala) c.1232A>C (p.Asp411Ala) n.118A>C c.1355A>C (p.Asp452Ala) c.1652A>C (p.Asp551Ala) c.1634A>C (p.Asp545Ala) c.1343A>C (p.Asp448Ala) c.1271A>C (p.Asp424Ala) n.2137A>C n.2076A>C n.2030A>C | |
2 | g.25244209_25244213dup | CA2658168474 | DNMT3A | c.114_118dup c.941_945dup (n.941_945dup) c.1126_1130dup (p.Asp377GlufsTer?) c.1795_1799dup (p.Asp600GlufsTer?) c.1228_1232dup (p.Asp411GlufsTer?) n.114_118dup c.1351_1355dup (p.Asp452GlufsTer?) c.1648_1652dup (p.Asp551GlufsTer?) c.1630_1634dup (p.Asp545GlufsTer?) c.1339_1343dup (p.Asp448GlufsTer?) c.1267_1271dup (p.Asp424GlufsTer?) n.2133_2137dup n.2072_2076dup n.2026_2030dup | gnomAD v4 |
2 | g.25244208C>A | CA346071765 | DNMT3A | c.117G>T c.944G>T (n.944G>T) c.1129G>T (p.Asp377Tyr) c.1798G>T (p.Asp600Tyr) c.1231G>T (p.Asp411Tyr) n.117G>T c.1354G>T (p.Asp452Tyr) c.1651G>T (p.Asp551Tyr) c.1633G>T (p.Asp545Tyr) c.1342G>T (p.Asp448Tyr) c.1270G>T (p.Asp424Tyr) n.2136G>T n.2075G>T n.2029G>T | |
2 | g.25244208C= | CA1239262787 | DNMT3A | c.117G= c.944G= (n.944G=) c.1129G= (p.Asp377=) c.1798G= (p.Asp600=) c.1231G= (p.Asp411=) n.117G= c.1354G= (p.Asp452=) c.1651G= (p.Asp551=) c.1633G= (p.Asp545=) c.1342G= (p.Asp448=) c.1270G= (p.Asp424=) n.2136G= n.2075G= n.2029G= | |
2 | g.25244208C>G | CA346071766 | DNMT3A | c.117G>C c.944G>C (n.944G>C) c.1129G>C (p.Asp377His) c.1798G>C (p.Asp600His) c.1231G>C (p.Asp411His) n.117G>C c.1354G>C (p.Asp452His) c.1651G>C (p.Asp551His) c.1633G>C (p.Asp545His) c.1342G>C (p.Asp448His) c.1270G>C (p.Asp424His) n.2136G>C n.2075G>C n.2029G>C | |
2 | g.25244208C>T | CA1555870 | DNMT3A | c.117G>A c.944G>A (n.944G>A) c.1129G>A (p.Asp377Asn) c.1798G>A (p.Asp600Asn) c.1231G>A (p.Asp411Asn) n.117G>A c.1354G>A (p.Asp452Asn) c.1651G>A (p.Asp551Asn) c.1633G>A (p.Asp545Asn) c.1342G>A (p.Asp448Asn) c.1270G>A (p.Asp424Asn) n.2136G>A n.2075G>A n.2029G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244208_25244211del | CA2658168479 | DNMT3A | c.114_117del c.941_944del (n.941_944del) c.1126_1129del (p.Glu376ThrfsTer?) c.1795_1798del (p.Glu599ThrfsTer?) c.1228_1231del (p.Glu410ThrfsTer?) n.114_117del c.1351_1354del (p.Glu451ThrfsTer?) c.1648_1651del (p.Glu550ThrfsTer?) c.1630_1633del (p.Glu544ThrfsTer?) c.1339_1342del (p.Glu447ThrfsTer?) c.1267_1270del (p.Glu423ThrfsTer?) n.2133_2136del n.2072_2075del n.2026_2029del | gnomAD v4 |
2 | g.25244209C>A | CA1555871 | DNMT3A | c.116G>T c.943G>T (n.943G>T) c.1128G>T (p.Glu376Asp) c.1797G>T (p.Glu599Asp) c.1230G>T (p.Glu410Asp) n.116G>T c.1353G>T (p.Glu451Asp) c.1650G>T (p.Glu550Asp) c.1632G>T (p.Glu544Asp) c.1341G>T (p.Glu447Asp) c.1269G>T (p.Glu423Asp) n.2135G>T n.2074G>T n.2028G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244209C= | CA1239262790 | DNMT3A | c.116G= c.943G= (n.943G=) c.1128G= (p.Glu376=) c.1797G= (p.Glu599=) c.1230G= (p.Glu410=) n.116G= c.1353G= (p.Glu451=) c.1650G= (p.Glu550=) c.1632G= (p.Glu544=) c.1341G= (p.Glu447=) c.1269G= (p.Glu423=) n.2135G= n.2074G= n.2028G= | |
2 | g.25244209C>G | CA346071767 | DNMT3A | c.116G>C c.943G>C (n.943G>C) c.1128G>C (p.Glu376Asp) c.1797G>C (p.Glu599Asp) c.1230G>C (p.Glu410Asp) n.116G>C c.1353G>C (p.Glu451Asp) c.1650G>C (p.Glu550Asp) c.1632G>C (p.Glu544Asp) c.1341G>C (p.Glu447Asp) c.1269G>C (p.Glu423Asp) n.2135G>C n.2074G>C n.2028G>C | |
2 | g.25244209C>T | CA425182261 | DNMT3A | c.116G>A c.943G>A (n.943G>A) c.1128G>A (p.Glu376=) c.1797G>A (p.Glu599=) c.1230G>A (p.Glu410=) n.116G>A c.1353G>A (p.Glu451=) c.1650G>A (p.Glu550=) c.1632G>A (p.Glu544=) c.1341G>A (p.Glu447=) c.1269G>A (p.Glu423=) n.2135G>A n.2074G>A n.2028G>A | dbSNP |
2 | g.25244210del | CA2576694284 | DNMT3A | c.115del c.942del (n.942del) c.1127del (p.Glu376GlyfsTer?) c.1796del (p.Glu599GlyfsTer?) c.1229del (p.Glu410GlyfsTer?) n.115del c.1352del (p.Glu451GlyfsTer?) c.1649del (p.Glu550GlyfsTer?) c.1631del (p.Glu544GlyfsTer?) c.1340del (p.Glu447GlyfsTer?) c.1268del (p.Glu423GlyfsTer?) n.2134del n.2073del n.2027del | |
2 | g.25244210T>A | CA346071768 | DNMT3A | c.115A>T c.942A>T (n.942A>T) c.1127A>T (p.Glu376Val) c.1796A>T (p.Glu599Val) c.1229A>T (p.Glu410Val) n.115A>T c.1352A>T (p.Glu451Val) c.1649A>T (p.Glu550Val) c.1631A>T (p.Glu544Val) c.1340A>T (p.Glu447Val) c.1268A>T (p.Glu423Val) n.2134A>T n.2073A>T n.2027A>T | |
2 | g.25244210T>C | CA346071769 | DNMT3A | c.115A>G c.942A>G (n.942A>G) c.1127A>G (p.Glu376Gly) c.1796A>G (p.Glu599Gly) c.1229A>G (p.Glu410Gly) n.115A>G c.1352A>G (p.Glu451Gly) c.1649A>G (p.Glu550Gly) c.1631A>G (p.Glu544Gly) c.1340A>G (p.Glu447Gly) c.1268A>G (p.Glu423Gly) n.2134A>G n.2073A>G n.2027A>G | dbSNP |
2 | g.25244210T>G | CA346071770 | DNMT3A | c.115A>C c.942A>C (n.942A>C) c.1127A>C (p.Glu376Ala) c.1796A>C (p.Glu599Ala) c.1229A>C (p.Glu410Ala) n.115A>C c.1352A>C (p.Glu451Ala) c.1649A>C (p.Glu550Ala) c.1631A>C (p.Glu544Ala) c.1340A>C (p.Glu447Ala) c.1268A>C (p.Glu423Ala) n.2134A>C n.2073A>C n.2027A>C | |
2 | g.25244211C>A | CA346071771 | DNMT3A | c.114G>T c.941G>T (n.941G>T) c.1126G>T (p.Glu376Ter) c.1795G>T (p.Glu599Ter) c.1228G>T (p.Glu410Ter) n.114G>T c.1351G>T (p.Glu451Ter) c.1648G>T (p.Glu550Ter) c.1630G>T (p.Glu544Ter) c.1339G>T (p.Glu447Ter) c.1267G>T (p.Glu423Ter) n.2133G>T n.2072G>T n.2026G>T | gnomAD v4 |
2 | g.25244211C>G | CA346071772 | DNMT3A | c.114G>C c.941G>C (n.941G>C) c.1126G>C (p.Glu376Gln) c.1795G>C (p.Glu599Gln) c.1228G>C (p.Glu410Gln) n.114G>C c.1351G>C (p.Glu451Gln) c.1648G>C (p.Glu550Gln) c.1630G>C (p.Glu544Gln) c.1339G>C (p.Glu447Gln) c.1267G>C (p.Glu423Gln) n.2133G>C n.2072G>C n.2026G>C | |
2 | g.25244211C>T | CA346071773 | DNMT3A | c.114G>A c.941G>A (n.941G>A) c.1126G>A (p.Glu376Lys) c.1795G>A (p.Glu599Lys) c.1228G>A (p.Glu410Lys) n.114G>A c.1351G>A (p.Glu451Lys) c.1648G>A (p.Glu550Lys) c.1630G>A (p.Glu544Lys) c.1339G>A (p.Glu447Lys) c.1267G>A (p.Glu423Lys) n.2133G>A n.2072G>A n.2026G>A | |
2 | g.25244212del | CA2739317457 | DNMT3A | c.113del c.940del (n.940del) c.1125del (p.Glu376ArgfsTer?) c.1794del (p.Glu599ArgfsTer?) c.1227del (p.Glu410ArgfsTer?) n.113del c.1350del (p.Glu451ArgfsTer?) c.1647del (p.Glu550ArgfsTer?) c.1629del (p.Glu544ArgfsTer?) c.1338del (p.Glu447ArgfsTer?) c.1266del (p.Glu423ArgfsTer?) n.2132del n.2071del n.2025del | |
2 | g.25244212T>A | CA425182262 | DNMT3A | c.113A>T c.940A>T (n.940A>T) c.1125A>T (p.Arg375=) c.1794A>T (p.Arg598=) c.1227A>T (p.Arg409=) n.113A>T c.1350A>T (p.Arg450=) c.1647A>T (p.Arg549=) c.1629A>T (p.Arg543=) c.1338A>T (p.Arg446=) c.1266A>T (p.Arg422=) n.2132A>T n.2071A>T n.2025A>T | |
2 | g.25244212T>C | CA425182263 | DNMT3A | c.113A>G c.940A>G (n.940A>G) c.1125A>G (p.Arg375=) c.1794A>G (p.Arg598=) c.1227A>G (p.Arg409=) n.113A>G c.1350A>G (p.Arg450=) c.1647A>G (p.Arg549=) c.1629A>G (p.Arg543=) c.1338A>G (p.Arg446=) c.1266A>G (p.Arg422=) n.2132A>G n.2071A>G n.2025A>G | |
2 | g.25244212T>G | CA425182264 | DNMT3A | c.113A>C c.940A>C (n.940A>C) c.1125A>C (p.Arg375=) c.1794A>C (p.Arg598=) c.1227A>C (p.Arg409=) n.113A>C c.1350A>C (p.Arg450=) c.1647A>C (p.Arg549=) c.1629A>C (p.Arg543=) c.1338A>C (p.Arg446=) c.1266A>C (p.Arg422=) n.2132A>C n.2071A>C n.2025A>C | |
2 | g.25244212_25244213delinsTC | CA1239262795 | DNMT3A | c.112_113delinsGA c.939_940delinsGA (n.939_940delinsGA) c.1124_1125delinsGA (p.Arg375=) c.1793_1794delinsGA (p.Arg598=) c.1226_1227delinsGA (p.Arg409=) n.112_113delinsGA c.1349_1350delinsGA (p.Arg450=) c.1646_1647delinsGA (p.Arg549=) c.1628_1629delinsGA (p.Arg543=) c.1337_1338delinsGA (p.Arg446=) c.1265_1266delinsGA (p.Arg422=) n.2131_2132delinsGA n.2070_2071delinsGA n.2024_2025delinsGA | |
2 | g.25244213del | CA43703299 | DNMT3A | c.112del c.939del (n.939del) c.1124del (p.Arg375GlnfsTer?) c.1793del (p.Arg598GlnfsTer?) c.1226del (p.Arg409GlnfsTer?) n.112del c.1349del (p.Arg450GlnfsTer?) c.1646del (p.Arg549GlnfsTer?) c.1628del (p.Arg543GlnfsTer?) c.1337del (p.Arg446GlnfsTer?) c.1265del (p.Arg422GlnfsTer?) n.2131del n.2070del n.2024del | dbSNP |
2 | g.25244213C>A | CA346071774 | DNMT3A | c.112G>T c.939G>T (n.939G>T) c.1124G>T (p.Arg375Leu) c.1793G>T (p.Arg598Leu) c.1226G>T (p.Arg409Leu) n.112G>T c.1349G>T (p.Arg450Leu) c.1646G>T (p.Arg549Leu) c.1628G>T (p.Arg543Leu) c.1337G>T (p.Arg446Leu) c.1265G>T (p.Arg422Leu) n.2131G>T n.2070G>T n.2024G>T | dbSNP |
2 | g.25244213C= | CA1239262800 | DNMT3A | c.112G= c.939G= (n.939G=) c.1124G= (p.Arg375=) c.1793G= (p.Arg598=) c.1226G= (p.Arg409=) n.112G= c.1349G= (p.Arg450=) c.1646G= (p.Arg549=) c.1628G= (p.Arg543=) c.1337G= (p.Arg446=) c.1265G= (p.Arg422=) n.2131G= n.2070G= n.2024G= | |
2 | g.25244213C>G | CA346071775 | DNMT3A | c.112G>C c.939G>C (n.939G>C) c.1124G>C (p.Arg375Pro) c.1793G>C (p.Arg598Pro) c.1226G>C (p.Arg409Pro) n.112G>C c.1349G>C (p.Arg450Pro) c.1646G>C (p.Arg549Pro) c.1628G>C (p.Arg543Pro) c.1337G>C (p.Arg446Pro) c.1265G>C (p.Arg422Pro) n.2131G>C n.2070G>C n.2024G>C | |
2 | g.25244213C>T | CA1555872 | DNMT3A | c.112G>A c.939G>A (n.939G>A) c.1124G>A (p.Arg375Gln) c.1793G>A (p.Arg598Gln) c.1226G>A (p.Arg409Gln) n.112G>A c.1349G>A (p.Arg450Gln) c.1646G>A (p.Arg549Gln) c.1628G>A (p.Arg543Gln) c.1337G>A (p.Arg446Gln) c.1265G>A (p.Arg422Gln) n.2131G>A n.2070G>A n.2024G>A | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25244213dup | CA2658168493 | DNMT3A | c.112dup c.939dup (n.939dup) c.1124dup (p.Glu376ArgfsTer13) c.1793dup (p.Glu599ArgfsTer13) c.1226dup (p.Glu410ArgfsTer13) n.112dup c.1349dup (p.Glu451ArgfsTer13) c.1646dup (p.Glu550ArgfsTer13) c.1628dup (p.Glu544ArgfsTer13) c.1337dup (p.Glu447ArgfsTer13) c.1265dup (p.Glu423ArgfsTer13) n.2131dup n.2070dup n.2024dup | gnomAD v4 |
2 | g.25244214G>A | CA1555873 | DNMT3A | c.111C>T c.938C>T (n.938C>T) c.1123C>T (p.Arg375Ter) c.1792C>T (p.Arg598Ter) c.1225C>T (p.Arg409Ter) n.111C>T c.1348C>T (p.Arg450Ter) c.1645C>T (p.Arg549Ter) c.1627C>T (p.Arg543Ter) c.1336C>T (p.Arg446Ter) c.1264C>T (p.Arg422Ter) n.2130C>T n.2069C>T n.2023C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25244214G>C | CA346071776 | DNMT3A | c.111C>G c.938C>G (n.938C>G) c.1123C>G (p.Arg375Gly) c.1792C>G (p.Arg598Gly) c.1225C>G (p.Arg409Gly) n.111C>G c.1348C>G (p.Arg450Gly) c.1645C>G (p.Arg549Gly) c.1627C>G (p.Arg543Gly) c.1336C>G (p.Arg446Gly) c.1264C>G (p.Arg422Gly) n.2130C>G n.2069C>G n.2023C>G | dbSNP gnomAD v4 |
2 | g.25244214G= | CA1239262805 | DNMT3A | c.111C= c.938C= (n.938C=) c.1123C= (p.Arg375=) c.1792C= (p.Arg598=) c.1225C= (p.Arg409=) n.111C= c.1348C= (p.Arg450=) c.1645C= (p.Arg549=) c.1627C= (p.Arg543=) c.1336C= (p.Arg446=) c.1264C= (p.Arg422=) n.2130C= n.2069C= n.2023C= | |
2 | g.25244214G>T | CA425182265 | DNMT3A | c.111C>A c.938C>A (n.938C>A) c.1123C>A (p.Arg375=) c.1792C>A (p.Arg598=) c.1225C>A (p.Arg409=) n.111C>A c.1348C>A (p.Arg450=) c.1645C>A (p.Arg549=) c.1627C>A (p.Arg543=) c.1336C>A (p.Arg446=) c.1264C>A (p.Arg422=) n.2130C>A n.2069C>A n.2023C>A | dbSNP |
2 | g.25244214dup | CA2697547836 | DNMT3A | c.111dup c.938dup (n.938dup) c.1123dup (p.Arg375ProfsTer14) c.1792dup (p.Arg598ProfsTer14) c.1225dup (p.Arg409ProfsTer14) n.111dup c.1348dup (p.Arg450ProfsTer14) c.1645dup (p.Arg549ProfsTer14) c.1627dup (p.Arg543ProfsTer14) c.1336dup (p.Arg446ProfsTer14) c.1264dup (p.Arg422ProfsTer14) n.2130dup n.2069dup n.2023dup | ClinVar |
2 | g.25244215_25244254dup | CA2658168498 | DNMT3A | c.72_111dup c.899_938dup (n.899_938dup) c.1084_1123dup (p.Arg375HisfsTer27) c.1753_1792dup (p.Arg598HisfsTer27) c.1186_1225dup (p.Arg409HisfsTer27) n.72_111dup c.1309_1348dup (p.Arg450HisfsTer27) c.1606_1645dup (p.Arg549HisfsTer27) c.1588_1627dup (p.Arg543HisfsTer27) c.1297_1336dup (p.Arg446HisfsTer27) c.1225_1264dup (p.Arg422HisfsTer27) n.2091_2130dup n.2030_2069dup n.1984_2023dup | gnomAD v4 |
2 | g.25244215C>A | CA425182266 | DNMT3A | c.110G>T c.937G>T (n.937G>T) c.1122G>T (p.Arg374=) c.1791G>T (p.Arg597=) c.1224G>T (p.Arg408=) n.110G>T c.1347G>T (p.Arg449=) c.1644G>T (p.Arg548=) c.1626G>T (p.Arg542=) c.1335G>T (p.Arg445=) c.1263G>T (p.Arg421=) n.2129G>T n.2068G>T n.2022G>T | gnomAD v4 |
2 | g.25244215C= | CA1239262809 | DNMT3A | c.110G= c.937G= (n.937G=) c.1122G= (p.Arg374=) c.1791G= (p.Arg597=) c.1224G= (p.Arg408=) n.110G= c.1347G= (p.Arg449=) c.1644G= (p.Arg548=) c.1626G= (p.Arg542=) c.1335G= (p.Arg445=) c.1263G= (p.Arg421=) n.2129G= n.2068G= n.2022G= | |
2 | g.25244215C>G | CA425182268 | DNMT3A | c.110G>C c.937G>C (n.937G>C) c.1122G>C (p.Arg374=) c.1791G>C (p.Arg597=) c.1224G>C (p.Arg408=) n.110G>C c.1347G>C (p.Arg449=) c.1644G>C (p.Arg548=) c.1626G>C (p.Arg542=) c.1335G>C (p.Arg445=) c.1263G>C (p.Arg421=) n.2129G>C n.2068G>C n.2022G>C | |
2 | g.25244215C>T | CA425182269 | DNMT3A | c.110G>A c.937G>A (n.937G>A) c.1122G>A (p.Arg374=) c.1791G>A (p.Arg597=) c.1224G>A (p.Arg408=) n.110G>A c.1347G>A (p.Arg449=) c.1644G>A (p.Arg548=) c.1626G>A (p.Arg542=) c.1335G>A (p.Arg445=) c.1263G>A (p.Arg421=) n.2129G>A n.2068G>A n.2022G>A | dbSNP |
2 | g.25244216del | CA2573050554 | DNMT3A | c.110del c.937del (n.937del) c.1122del (p.Arg375GlufsTer?) c.1791del (p.Arg598GlufsTer?) c.1224del (p.Arg409GlufsTer?) n.110del c.1347del (p.Arg450GlufsTer?) c.1644del (p.Arg549GlufsTer?) c.1626del (p.Arg543GlufsTer?) c.1335del (p.Arg446GlufsTer?) c.1263del (p.Arg422GlufsTer?) n.2129del n.2068del n.2022del | ClinVar dbSNP |
2 | g.25244216C>A | CA346071777 | DNMT3A | c.109G>T c.936G>T (n.936G>T) c.1121G>T (p.Arg374Leu) c.1790G>T (p.Arg597Leu) c.1223G>T (p.Arg408Leu) n.109G>T c.1346G>T (p.Arg449Leu) c.1643G>T (p.Arg548Leu) c.1625G>T (p.Arg542Leu) c.1334G>T (p.Arg445Leu) c.1262G>T (p.Arg421Leu) n.2128G>T n.2067G>T n.2021G>T | |
2 | g.25244216C>G | CA346071779 | DNMT3A | c.109G>C c.936G>C (n.936G>C) c.1121G>C (p.Arg374Pro) c.1790G>C (p.Arg597Pro) c.1223G>C (p.Arg408Pro) n.109G>C c.1346G>C (p.Arg449Pro) c.1643G>C (p.Arg548Pro) c.1625G>C (p.Arg542Pro) c.1334G>C (p.Arg445Pro) c.1262G>C (p.Arg421Pro) n.2128G>C n.2067G>C n.2021G>C | |
2 | g.25244216C>T | CA346071778 | DNMT3A | c.109G>A c.936G>A (n.936G>A) c.1121G>A (p.Arg374Gln) c.1790G>A (p.Arg597Gln) c.1223G>A (p.Arg408Gln) n.109G>A c.1346G>A (p.Arg449Gln) c.1643G>A (p.Arg548Gln) c.1625G>A (p.Arg542Gln) c.1334G>A (p.Arg445Gln) c.1262G>A (p.Arg421Gln) n.2128G>A n.2067G>A n.2021G>A | ClinVar gnomAD v4 COSMIC COSMIC |
2 | g.25244217_25244218dup | CA2658168512 | DNMT3A | c.108_109dup c.935_936dup (n.935_936dup) c.1120_1121dup (p.Arg375GlyfsTer?) c.1789_1790dup (p.Arg598GlyfsTer?) c.1222_1223dup (p.Arg409GlyfsTer?) n.108_109dup c.1345_1346dup (p.Arg450GlyfsTer?) c.1642_1643dup (p.Arg549GlyfsTer?) c.1624_1625dup (p.Arg543GlyfsTer?) c.1333_1334dup (p.Arg446GlyfsTer?) c.1261_1262dup (p.Arg422GlyfsTer?) n.2127_2128dup n.2066_2067dup n.2020_2021dup | gnomAD v4 |
2 | g.25244217G>A | CA1555874 | DNMT3A | c.108C>T c.935C>T (n.935C>T) c.1120C>T (p.Arg374Trp) c.1789C>T (p.Arg597Trp) c.1222C>T (p.Arg408Trp) n.108C>T c.1345C>T (p.Arg449Trp) c.1642C>T (p.Arg548Trp) c.1624C>T (p.Arg542Trp) c.1333C>T (p.Arg445Trp) c.1261C>T (p.Arg421Trp) n.2127C>T n.2066C>T n.2020C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244217G>C | CA346071780 | DNMT3A | c.108C>G c.935C>G (n.935C>G) c.1120C>G (p.Arg374Gly) c.1789C>G (p.Arg597Gly) c.1222C>G (p.Arg408Gly) n.108C>G c.1345C>G (p.Arg449Gly) c.1642C>G (p.Arg548Gly) c.1624C>G (p.Arg542Gly) c.1333C>G (p.Arg445Gly) c.1261C>G (p.Arg421Gly) n.2127C>G n.2066C>G n.2020C>G | |
2 | g.25244217G= | CA1239262811 | DNMT3A | c.108C= c.935C= (n.935C=) c.1120C= (p.Arg374=) c.1789C= (p.Arg597=) c.1222C= (p.Arg408=) n.108C= c.1345C= (p.Arg449=) c.1642C= (p.Arg548=) c.1624C= (p.Arg542=) c.1333C= (p.Arg445=) c.1261C= (p.Arg421=) n.2127C= n.2066C= n.2020C= | |
2 | g.25244217G>T | CA425182271 | DNMT3A | c.108C>A c.935C>A (n.935C>A) c.1120C>A (p.Arg374=) c.1789C>A (p.Arg597=) c.1222C>A (p.Arg408=) n.108C>A c.1345C>A (p.Arg449=) c.1642C>A (p.Arg548=) c.1624C>A (p.Arg542=) c.1333C>A (p.Arg445=) c.1261C>A (p.Arg421=) n.2127C>A n.2066C>A n.2020C>A | |
2 | g.25244218C>A | CA425182272 | DNMT3A | c.107G>T c.934G>T (n.934G>T) c.1119G>T (p.Arg373=) c.1788G>T (p.Arg596=) c.1221G>T (p.Arg407=) n.107G>T c.1344G>T (p.Arg448=) c.1641G>T (p.Arg547=) c.1623G>T (p.Arg541=) c.1332G>T (p.Arg444=) c.1260G>T (p.Arg420=) n.2126G>T n.2065G>T n.2019G>T | |
2 | g.25244218C>G | CA425182273 | DNMT3A | c.107G>C c.934G>C (n.934G>C) c.1119G>C (p.Arg373=) c.1788G>C (p.Arg596=) c.1221G>C (p.Arg407=) n.107G>C c.1344G>C (p.Arg448=) c.1641G>C (p.Arg547=) c.1623G>C (p.Arg541=) c.1332G>C (p.Arg444=) c.1260G>C (p.Arg420=) n.2126G>C n.2065G>C n.2019G>C | |
2 | g.25244218C>T | CA425182274 | DNMT3A | c.107G>A c.934G>A (n.934G>A) c.1119G>A (p.Arg373=) c.1788G>A (p.Arg596=) c.1221G>A (p.Arg407=) n.107G>A c.1344G>A (p.Arg448=) c.1641G>A (p.Arg547=) c.1623G>A (p.Arg541=) c.1332G>A (p.Arg444=) c.1260G>A (p.Arg420=) n.2126G>A n.2065G>A n.2019G>A | |
2 | g.25244219del | CA2576694289 | DNMT3A | c.107del c.934del (n.934del) c.1119del (p.Arg374GlyfsTer?) c.1788del (p.Arg597GlyfsTer?) c.1221del (p.Arg408GlyfsTer?) n.107del c.1344del (p.Arg449GlyfsTer?) c.1641del (p.Arg548GlyfsTer?) c.1623del (p.Arg542GlyfsTer?) c.1332del (p.Arg445GlyfsTer?) c.1260del (p.Arg421GlyfsTer?) n.2126del n.2065del n.2019del | gnomAD v4 |
2 | g.25244219C>A | CA346071781 | DNMT3A | c.106G>T c.933G>T (n.933G>T) c.1118G>T (p.Arg373Leu) c.1787G>T (p.Arg596Leu) c.1220G>T (p.Arg407Leu) n.106G>T c.1343G>T (p.Arg448Leu) c.1640G>T (p.Arg547Leu) c.1622G>T (p.Arg541Leu) c.1331G>T (p.Arg444Leu) c.1259G>T (p.Arg420Leu) n.2125G>T n.2064G>T n.2018G>T | ClinVar |
2 | g.25244219C= | CA1239262814 | DNMT3A | c.106G= c.933G= (n.933G=) c.1118G= (p.Arg373=) c.1787G= (p.Arg596=) c.1220G= (p.Arg407=) n.106G= c.1343G= (p.Arg448=) c.1640G= (p.Arg547=) c.1622G= (p.Arg541=) c.1331G= (p.Arg444=) c.1259G= (p.Arg420=) n.2125G= n.2064G= n.2018G= | |
2 | g.25244219C>G | CA346071782 | DNMT3A | c.106G>C c.933G>C (n.933G>C) c.1118G>C (p.Arg373Pro) c.1787G>C (p.Arg596Pro) c.1220G>C (p.Arg407Pro) n.106G>C c.1343G>C (p.Arg448Pro) c.1640G>C (p.Arg547Pro) c.1622G>C (p.Arg541Pro) c.1331G>C (p.Arg444Pro) c.1259G>C (p.Arg420Pro) n.2125G>C n.2064G>C n.2018G>C | |
2 | g.25244219C>T | CA43703315 | DNMT3A | c.106G>A c.933G>A (n.933G>A) c.1118G>A (p.Arg373Gln) c.1787G>A (p.Arg596Gln) c.1220G>A (p.Arg407Gln) n.106G>A c.1343G>A (p.Arg448Gln) c.1640G>A (p.Arg547Gln) c.1622G>A (p.Arg541Gln) c.1331G>A (p.Arg444Gln) c.1259G>A (p.Arg420Gln) n.2125G>A n.2064G>A n.2018G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244220G>A | CA346071783 | DNMT3A | c.105C>T c.932C>T (n.932C>T) c.1117C>T (p.Arg373Trp) c.1786C>T (p.Arg596Trp) c.1219C>T (p.Arg407Trp) n.105C>T c.1342C>T (p.Arg448Trp) c.1639C>T (p.Arg547Trp) c.1621C>T (p.Arg541Trp) c.1330C>T (p.Arg444Trp) c.1258C>T (p.Arg420Trp) n.2124C>T n.2063C>T n.2017C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244220G>C | CA346071784 | DNMT3A | c.105C>G c.932C>G (n.932C>G) c.1117C>G (p.Arg373Gly) c.1786C>G (p.Arg596Gly) c.1219C>G (p.Arg407Gly) n.105C>G c.1342C>G (p.Arg448Gly) c.1639C>G (p.Arg547Gly) c.1621C>G (p.Arg541Gly) c.1330C>G (p.Arg444Gly) c.1258C>G (p.Arg420Gly) n.2124C>G n.2063C>G n.2017C>G | |
2 | g.25244220G= | CA1239262817 | DNMT3A | c.105C= c.932C= (n.932C=) c.1117C= (p.Arg373=) c.1786C= (p.Arg596=) c.1219C= (p.Arg407=) n.105C= c.1342C= (p.Arg448=) c.1639C= (p.Arg547=) c.1621C= (p.Arg541=) c.1330C= (p.Arg444=) c.1258C= (p.Arg420=) n.2124C= n.2063C= n.2017C= | |
2 | g.25244220G>T | CA425182276 | DNMT3A | c.105C>A c.932C>A (n.932C>A) c.1117C>A (p.Arg373=) c.1786C>A (p.Arg596=) c.1219C>A (p.Arg407=) n.105C>A c.1342C>A (p.Arg448=) c.1639C>A (p.Arg547=) c.1621C>A (p.Arg541=) c.1330C>A (p.Arg444=) c.1258C>A (p.Arg420=) n.2124C>A n.2063C>A n.2017C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244221C>A | CA425182277 | DNMT3A | c.104G>T c.931G>T (n.931G>T) c.1116G>T (p.Leu372=) c.1785G>T (p.Leu595=) c.1218G>T (p.Leu406=) n.104G>T c.1341G>T (p.Leu447=) c.1638G>T (p.Leu546=) c.1620G>T (p.Leu540=) c.1329G>T (p.Leu443=) c.1257G>T (p.Leu419=) n.2123G>T n.2062G>T n.2016G>T | |
2 | g.25244221C= | CA1239262821 | DNMT3A | c.104G= c.931G= (n.931G=) c.1116G= (p.Leu372=) c.1785G= (p.Leu595=) c.1218G= (p.Leu406=) n.104G= c.1341G= (p.Leu447=) c.1638G= (p.Leu546=) c.1620G= (p.Leu540=) c.1329G= (p.Leu443=) c.1257G= (p.Leu419=) n.2123G= n.2062G= n.2016G= | |
2 | g.25244221C>G | CA425182279 | DNMT3A | c.104G>C c.931G>C (n.931G>C) c.1116G>C (p.Leu372=) c.1785G>C (p.Leu595=) c.1218G>C (p.Leu406=) n.104G>C c.1341G>C (p.Leu447=) c.1638G>C (p.Leu546=) c.1620G>C (p.Leu540=) c.1329G>C (p.Leu443=) c.1257G>C (p.Leu419=) n.2123G>C n.2062G>C n.2016G>C | |
2 | g.25244221C>T | CA425182278 | DNMT3A | c.104G>A c.931G>A (n.931G>A) c.1116G>A (p.Leu372=) c.1785G>A (p.Leu595=) c.1218G>A (p.Leu406=) n.104G>A c.1341G>A (p.Leu447=) c.1638G>A (p.Leu546=) c.1620G>A (p.Leu540=) c.1329G>A (p.Leu443=) c.1257G>A (p.Leu419=) n.2123G>A n.2062G>A n.2016G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244221dup | CA2658168519 | DNMT3A | c.104dup c.931dup (n.931dup) c.1116dup (p.Arg373AlafsTer16) c.1785dup (p.Arg596AlafsTer16) c.1218dup (p.Arg407AlafsTer16) n.104dup c.1341dup (p.Arg448AlafsTer16) c.1638dup (p.Arg547AlafsTer16) c.1620dup (p.Arg541AlafsTer16) c.1329dup (p.Arg444AlafsTer16) c.1257dup (p.Arg420AlafsTer16) n.2123dup n.2062dup n.2016dup | gnomAD v4 |
2 | g.25244221_25244222delinsCA | CA1239262820 | DNMT3A | c.103_104delinsTG c.930_931delinsTG (n.930_931delinsTG) c.1115_1116delinsTG (p.Leu372=) c.1784_1785delinsTG (p.Leu595=) c.1217_1218delinsTG (p.Leu406=) n.103_104delinsTG c.1340_1341delinsTG (p.Leu447=) c.1637_1638delinsTG (p.Leu546=) c.1619_1620delinsTG (p.Leu540=) c.1328_1329delinsTG (p.Leu443=) c.1256_1257delinsTG (p.Leu419=) n.2122_2123delinsTG n.2061_2062delinsTG n.2015_2016delinsTG | |
2 | g.25244222del | CA1028509725 | DNMT3A | c.103del c.930del (n.930del) c.1115del (p.Leu372ArgfsTer?) c.1784del (p.Leu595ArgfsTer?) c.1217del (p.Leu406ArgfsTer?) n.103del c.1340del (p.Leu447ArgfsTer?) c.1637del (p.Leu546ArgfsTer?) c.1619del (p.Leu540ArgfsTer?) c.1328del (p.Leu443ArgfsTer?) c.1256del (p.Leu419ArgfsTer?) n.2122del n.2061del n.2015del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244222A= | CA1239262825 | DNMT3A | c.103T= c.930T= (n.930T=) c.1115T= (p.Leu372=) c.1784T= (p.Leu595=) c.1217T= (p.Leu406=) n.103T= c.1340T= (p.Leu447=) c.1637T= (p.Leu546=) c.1619T= (p.Leu540=) c.1328T= (p.Leu443=) c.1256T= (p.Leu419=) n.2122T= n.2061T= n.2015T= | |
2 | g.25244222A>C | CA346071785 | DNMT3A | c.103T>G c.930T>G (n.930T>G) c.1115T>G (p.Leu372Arg) c.1784T>G (p.Leu595Arg) c.1217T>G (p.Leu406Arg) n.103T>G c.1340T>G (p.Leu447Arg) c.1637T>G (p.Leu546Arg) c.1619T>G (p.Leu540Arg) c.1328T>G (p.Leu443Arg) c.1256T>G (p.Leu419Arg) n.2122T>G n.2061T>G n.2015T>G | gnomAD v3 gnomAD v4 |
2 | g.25244222A>G | CA346071786 | DNMT3A | c.103T>C c.930T>C (n.930T>C) c.1115T>C (p.Leu372Pro) c.1784T>C (p.Leu595Pro) c.1217T>C (p.Leu406Pro) n.103T>C c.1340T>C (p.Leu447Pro) c.1637T>C (p.Leu546Pro) c.1619T>C (p.Leu540Pro) c.1328T>C (p.Leu443Pro) c.1256T>C (p.Leu419Pro) n.2122T>C n.2061T>C n.2015T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.25244222A>T | CA346071787 | DNMT3A | c.103T>A c.930T>A (n.930T>A) c.1115T>A (p.Leu372Gln) c.1784T>A (p.Leu595Gln) c.1217T>A (p.Leu406Gln) n.103T>A c.1340T>A (p.Leu447Gln) c.1637T>A (p.Leu546Gln) c.1619T>A (p.Leu540Gln) c.1328T>A (p.Leu443Gln) c.1256T>A (p.Leu419Gln) n.2122T>A n.2061T>A n.2015T>A | |
2 | g.25244222dup | CA2658168522 | DNMT3A | c.103dup c.930dup (n.930dup) c.1115dup (p.Arg373AlafsTer16) c.1784dup (p.Arg596AlafsTer16) c.1217dup (p.Arg407AlafsTer16) n.103dup c.1340dup (p.Arg448AlafsTer16) c.1637dup (p.Arg547AlafsTer16) c.1619dup (p.Arg541AlafsTer16) c.1328dup (p.Arg444AlafsTer16) c.1256dup (p.Arg420AlafsTer16) n.2122dup n.2061dup n.2015dup | gnomAD v4 |
2 | g.25244223G>A | CA425182281 | DNMT3A | c.102C>T c.929C>T (n.929C>T) c.1114C>T (p.Leu372=) c.1783C>T (p.Leu595=) c.1216C>T (p.Leu406=) n.102C>T c.1339C>T (p.Leu447=) c.1636C>T (p.Leu546=) c.1618C>T (p.Leu540=) c.1327C>T (p.Leu443=) c.1255C>T (p.Leu419=) n.2121C>T n.2060C>T n.2014C>T | dbSNP |
2 | g.25244223G>C | CA346071789 | DNMT3A | c.102C>G c.929C>G (n.929C>G) c.1114C>G (p.Leu372Val) c.1783C>G (p.Leu595Val) c.1216C>G (p.Leu406Val) n.102C>G c.1339C>G (p.Leu447Val) c.1636C>G (p.Leu546Val) c.1618C>G (p.Leu540Val) c.1327C>G (p.Leu443Val) c.1255C>G (p.Leu419Val) n.2121C>G n.2060C>G n.2014C>G | dbSNP |
2 | g.25244223G>T | CA346071788 | DNMT3A | c.102C>A c.929C>A (n.929C>A) c.1114C>A (p.Leu372Met) c.1783C>A (p.Leu595Met) c.1216C>A (p.Leu406Met) n.102C>A c.1339C>A (p.Leu447Met) c.1636C>A (p.Leu546Met) c.1618C>A (p.Leu540Met) c.1327C>A (p.Leu443Met) c.1255C>A (p.Leu419Met) n.2121C>A n.2060C>A n.2014C>A | |
2 | g.25244224C>A | CA425182282 | DNMT3A | c.101G>T c.928G>T (n.928G>T) c.1113G>T (p.Leu371=) c.1782G>T (p.Leu594=) c.1215G>T (p.Leu405=) n.101G>T c.1338G>T (p.Leu446=) c.1635G>T (p.Leu545=) c.1617G>T (p.Leu539=) c.1326G>T (p.Leu442=) c.1254G>T (p.Leu418=) n.2120G>T n.2059G>T n.2013G>T | |
2 | g.25244224C>G | CA425182283 | DNMT3A | c.101G>C c.928G>C (n.928G>C) c.1113G>C (p.Leu371=) c.1782G>C (p.Leu594=) c.1215G>C (p.Leu405=) n.101G>C c.1338G>C (p.Leu446=) c.1635G>C (p.Leu545=) c.1617G>C (p.Leu539=) c.1326G>C (p.Leu442=) c.1254G>C (p.Leu418=) n.2120G>C n.2059G>C n.2013G>C | |
2 | g.25244224C>T | CA425182284 | DNMT3A | c.101G>A c.928G>A (n.928G>A) c.1113G>A (p.Leu371=) c.1782G>A (p.Leu594=) c.1215G>A (p.Leu405=) n.101G>A c.1338G>A (p.Leu446=) c.1635G>A (p.Leu545=) c.1617G>A (p.Leu539=) c.1326G>A (p.Leu442=) c.1254G>A (p.Leu418=) n.2120G>A n.2059G>A n.2013G>A | dbSNP |
2 | g.25244225A>C | CA346071790 | DNMT3A | c.100T>G c.927T>G (n.927T>G) c.1112T>G (p.Leu371Arg) c.1781T>G (p.Leu594Arg) c.1214T>G (p.Leu405Arg) n.100T>G c.1337T>G (p.Leu446Arg) c.1634T>G (p.Leu545Arg) c.1616T>G (p.Leu539Arg) c.1325T>G (p.Leu442Arg) c.1253T>G (p.Leu418Arg) n.2119T>G n.2058T>G n.2012T>G | |
2 | g.25244225A>G | CA346071792 | DNMT3A | c.100T>C c.927T>C (n.927T>C) c.1112T>C (p.Leu371Pro) c.1781T>C (p.Leu594Pro) c.1214T>C (p.Leu405Pro) n.100T>C c.1337T>C (p.Leu446Pro) c.1634T>C (p.Leu545Pro) c.1616T>C (p.Leu539Pro) c.1325T>C (p.Leu442Pro) c.1253T>C (p.Leu418Pro) n.2119T>C n.2058T>C n.2012T>C | |
2 | g.25244225A>T | CA346071791 | DNMT3A | c.100T>A c.927T>A (n.927T>A) c.1112T>A (p.Leu371Gln) c.1781T>A (p.Leu594Gln) c.1214T>A (p.Leu405Gln) n.100T>A c.1337T>A (p.Leu446Gln) c.1634T>A (p.Leu545Gln) c.1616T>A (p.Leu539Gln) c.1325T>A (p.Leu442Gln) c.1253T>A (p.Leu418Gln) n.2119T>A n.2058T>A n.2012T>A | |
2 | g.25244225_25244226del | CA2658168527 | DNMT3A | c.99_100del c.926_927del (n.926_927del) c.1111_1112del (p.Leu371AlafsTer17) c.1780_1781del (p.Leu594AlafsTer17) c.1213_1214del (p.Leu405AlafsTer17) n.99_100del c.1336_1337del (p.Leu446AlafsTer17) c.1633_1634del (p.Leu545AlafsTer17) c.1615_1616del (p.Leu539AlafsTer17) c.1324_1325del (p.Leu442AlafsTer17) c.1252_1253del (p.Leu418AlafsTer17) n.2118_2119del n.2057_2058del n.2011_2012del | gnomAD v4 |
2 | g.25244226G>A | CA1555875 | DNMT3A | c.99C>T c.926C>T (n.926C>T) c.1111C>T (p.Leu371=) c.1780C>T (p.Leu594=) c.1213C>T (p.Leu405=) n.99C>T c.1336C>T (p.Leu446=) c.1633C>T (p.Leu545=) c.1615C>T (p.Leu539=) c.1324C>T (p.Leu442=) c.1252C>T (p.Leu418=) n.2118C>T n.2057C>T n.2011C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244226G>C | CA346071793 | DNMT3A | c.99C>G c.926C>G (n.926C>G) c.1111C>G (p.Leu371Val) c.1780C>G (p.Leu594Val) c.1213C>G (p.Leu405Val) n.99C>G c.1336C>G (p.Leu446Val) c.1633C>G (p.Leu545Val) c.1615C>G (p.Leu539Val) c.1324C>G (p.Leu442Val) c.1252C>G (p.Leu418Val) n.2118C>G n.2057C>G n.2011C>G | |
2 | g.25244226G= | CA1239262828 | DNMT3A | c.99C= c.926C= (n.926C=) c.1111C= (p.Leu371=) c.1780C= (p.Leu594=) c.1213C= (p.Leu405=) n.99C= c.1336C= (p.Leu446=) c.1633C= (p.Leu545=) c.1615C= (p.Leu539=) c.1324C= (p.Leu442=) c.1252C= (p.Leu418=) n.2118C= n.2057C= n.2011C= | |
2 | g.25244226G>T | CA346071794 | DNMT3A | c.99C>A c.926C>A (n.926C>A) c.1111C>A (p.Leu371Met) c.1780C>A (p.Leu594Met) c.1213C>A (p.Leu405Met) n.99C>A c.1336C>A (p.Leu446Met) c.1633C>A (p.Leu545Met) c.1615C>A (p.Leu539Met) c.1324C>A (p.Leu442Met) c.1252C>A (p.Leu418Met) n.2118C>A n.2057C>A n.2011C>A | |
2 | g.25244227_25244230dup | CA2658168531 | DNMT3A | c.96_99dup c.923_926dup (n.923_926dup) c.1108_1111dup (p.Leu371ArgfsTer19) c.1777_1780dup (p.Leu594ArgfsTer19) c.1210_1213dup (p.Leu405ArgfsTer19) n.96_99dup c.1333_1336dup (p.Leu446ArgfsTer19) c.1630_1633dup (p.Leu545ArgfsTer19) c.1612_1615dup (p.Leu539ArgfsTer19) c.1321_1324dup (p.Leu442ArgfsTer19) c.1249_1252dup (p.Leu418ArgfsTer19) n.2115_2118dup n.2054_2057dup n.2008_2011dup | gnomAD v4 |
2 | g.25244227C>A | CA425182285 | DNMT3A | c.98G>T c.925G>T (n.925G>T) c.1110G>T (p.Gly370=) c.1779G>T (p.Gly593=) c.1212G>T (p.Gly404=) n.98G>T c.1335G>T (p.Gly445=) c.1632G>T (p.Gly544=) c.1614G>T (p.Gly538=) c.1323G>T (p.Gly441=) c.1251G>T (p.Gly417=) n.2117G>T n.2056G>T n.2010G>T | |
2 | g.25244227C>G | CA425182286 | DNMT3A | c.98G>C c.925G>C (n.925G>C) c.1110G>C (p.Gly370=) c.1779G>C (p.Gly593=) c.1212G>C (p.Gly404=) n.98G>C c.1335G>C (p.Gly445=) c.1632G>C (p.Gly544=) c.1614G>C (p.Gly538=) c.1323G>C (p.Gly441=) c.1251G>C (p.Gly417=) n.2117G>C n.2056G>C n.2010G>C | |
2 | g.25244227C>T | CA425182288 | DNMT3A | c.98G>A c.925G>A (n.925G>A) c.1110G>A (p.Gly370=) c.1779G>A (p.Gly593=) c.1212G>A (p.Gly404=) n.98G>A c.1335G>A (p.Gly445=) c.1632G>A (p.Gly544=) c.1614G>A (p.Gly538=) c.1323G>A (p.Gly441=) c.1251G>A (p.Gly417=) n.2117G>A n.2056G>A n.2010G>A | |
2 | g.25244229del | CA425182289 | DNMT3A | c.98del c.925del (n.925del) c.1110del (p.Leu371CysfsTer?) c.1779del (p.Leu594CysfsTer?) c.1212del (p.Leu405CysfsTer?) n.98del c.1335del (p.Leu446CysfsTer?) c.1632del (p.Leu545CysfsTer?) c.1614del (p.Leu539CysfsTer?) c.1323del (p.Leu442CysfsTer?) c.1251del (p.Leu418CysfsTer?) n.2117del n.2056del n.2010del | gnomAD v4 COSMIC COSMIC |
2 | g.25244228C>A | CA346071795 | DNMT3A | c.97G>T c.924G>T (n.924G>T) c.1109G>T (p.Gly370Val) c.1778G>T (p.Gly593Val) c.1211G>T (p.Gly404Val) n.97G>T c.1334G>T (p.Gly445Val) c.1631G>T (p.Gly544Val) c.1613G>T (p.Gly538Val) c.1322G>T (p.Gly441Val) c.1250G>T (p.Gly417Val) n.2116G>T n.2055G>T n.2009G>T | dbSNP |
2 | g.25244228C>G | CA346071796 | DNMT3A | c.97G>C c.924G>C (n.924G>C) c.1109G>C (p.Gly370Ala) c.1778G>C (p.Gly593Ala) c.1211G>C (p.Gly404Ala) n.97G>C c.1334G>C (p.Gly445Ala) c.1631G>C (p.Gly544Ala) c.1613G>C (p.Gly538Ala) c.1322G>C (p.Gly441Ala) c.1250G>C (p.Gly417Ala) n.2116G>C n.2055G>C n.2009G>C | |
2 | g.25244228C>T | CA346071797 | DNMT3A | c.97G>A c.924G>A (n.924G>A) c.1109G>A (p.Gly370Glu) c.1778G>A (p.Gly593Glu) c.1211G>A (p.Gly404Glu) n.97G>A c.1334G>A (p.Gly445Glu) c.1631G>A (p.Gly544Glu) c.1613G>A (p.Gly538Glu) c.1322G>A (p.Gly441Glu) c.1250G>A (p.Gly417Glu) n.2116G>A n.2055G>A n.2009G>A | ClinVar |
2 | g.25244229C>A | CA346071798 | DNMT3A | c.96G>T c.923G>T (n.923G>T) c.1108G>T (p.Gly370Trp) c.1777G>T (p.Gly593Trp) c.1210G>T (p.Gly404Trp) n.96G>T c.1333G>T (p.Gly445Trp) c.1630G>T (p.Gly544Trp) c.1612G>T (p.Gly538Trp) c.1321G>T (p.Gly441Trp) c.1249G>T (p.Gly417Trp) n.2115G>T n.2054G>T n.2008G>T | |
2 | g.25244229C= | CA1239262832 | DNMT3A | c.96G= c.923G= (n.923G=) c.1108G= (p.Gly370=) c.1777G= (p.Gly593=) c.1210G= (p.Gly404=) n.96G= c.1333G= (p.Gly445=) c.1630G= (p.Gly544=) c.1612G= (p.Gly538=) c.1321G= (p.Gly441=) c.1249G= (p.Gly417=) n.2115G= n.2054G= n.2008G= | |
2 | g.25244229C>G | CA346071799 | DNMT3A | c.96G>C c.923G>C (n.923G>C) c.1108G>C (p.Gly370Arg) c.1777G>C (p.Gly593Arg) c.1210G>C (p.Gly404Arg) n.96G>C c.1333G>C (p.Gly445Arg) c.1630G>C (p.Gly544Arg) c.1612G>C (p.Gly538Arg) c.1321G>C (p.Gly441Arg) c.1249G>C (p.Gly417Arg) n.2115G>C n.2054G>C n.2008G>C | |
2 | g.25244229C>T | CA1555876 | DNMT3A | c.96G>A c.923G>A (n.923G>A) c.1108G>A (p.Gly370Arg) c.1777G>A (p.Gly593Arg) c.1210G>A (p.Gly404Arg) n.96G>A c.1333G>A (p.Gly445Arg) c.1630G>A (p.Gly544Arg) c.1612G>A (p.Gly538Arg) c.1321G>A (p.Gly441Arg) c.1249G>A (p.Gly417Arg) n.2115G>A n.2054G>A n.2008G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244229_25244230insTT | CA2658168546 | DNMT3A | c.95_96insAA c.922_923insAA (n.922_923insAA) c.1107_1108insAA (p.Gly370LysfsTer?) c.1776_1777insAA (p.Gly593LysfsTer?) c.1209_1210insAA (p.Gly404LysfsTer?) n.95_96insAA c.1332_1333insAA (p.Gly445LysfsTer?) c.1629_1630insAA (p.Gly544LysfsTer?) c.1611_1612insAA (p.Gly538LysfsTer?) c.1320_1321insAA (p.Gly441LysfsTer?) c.1248_1249insAA (p.Gly417LysfsTer?) n.2114_2115insAA n.2053_2054insAA n.2007_2008insAA | gnomAD v4 |
2 | g.25244230G>A | CA43703328 | DNMT3A | c.95C>T c.922C>T (n.922C>T) c.1107C>T (p.Tyr369=) c.1776C>T (p.Tyr592=) c.1209C>T (p.Tyr403=) n.95C>T c.1332C>T (p.Tyr444=) c.1629C>T (p.Tyr543=) c.1611C>T (p.Tyr537=) c.1320C>T (p.Tyr440=) c.1248C>T (p.Tyr416=) n.2114C>T n.2053C>T n.2007C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.25244230G>C | CA346071800 | DNMT3A | c.95C>G c.922C>G (n.922C>G) c.1107C>G (p.Tyr369Ter) c.1776C>G (p.Tyr592Ter) c.1209C>G (p.Tyr403Ter) n.95C>G c.1332C>G (p.Tyr444Ter) c.1629C>G (p.Tyr543Ter) c.1611C>G (p.Tyr537Ter) c.1320C>G (p.Tyr440Ter) c.1248C>G (p.Tyr416Ter) n.2114C>G n.2053C>G n.2007C>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.25244230G= | CA1239262837 | DNMT3A | c.95C= c.922C= (n.922C=) c.1107C= (p.Tyr369=) c.1776C= (p.Tyr592=) c.1209C= (p.Tyr403=) n.95C= c.1332C= (p.Tyr444=) c.1629C= (p.Tyr543=) c.1611C= (p.Tyr537=) c.1320C= (p.Tyr440=) c.1248C= (p.Tyr416=) n.2114C= n.2053C= n.2007C= | |
2 | g.25244230G>T | CA1555877 | DNMT3A | c.95C>A c.922C>A (n.922C>A) c.1107C>A (p.Tyr369Ter) c.1776C>A (p.Tyr592Ter) c.1209C>A (p.Tyr403Ter) n.95C>A c.1332C>A (p.Tyr444Ter) c.1629C>A (p.Tyr543Ter) c.1611C>A (p.Tyr537Ter) c.1320C>A (p.Tyr440Ter) c.1248C>A (p.Tyr416Ter) n.2114C>A n.2053C>A n.2007C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244231T>A | CA346071803 | DNMT3A | c.94A>T c.921A>T (n.921A>T) c.1106A>T (p.Tyr369Phe) c.1775A>T (p.Tyr592Phe) c.1208A>T (p.Tyr403Phe) n.94A>T c.1331A>T (p.Tyr444Phe) c.1628A>T (p.Tyr543Phe) c.1610A>T (p.Tyr537Phe) c.1319A>T (p.Tyr440Phe) c.1247A>T (p.Tyr416Phe) n.2113A>T n.2052A>T n.2006A>T | |
2 | g.25244231T>C | CA346071802 | DNMT3A | c.94A>G c.921A>G (n.921A>G) c.1106A>G (p.Tyr369Cys) c.1775A>G (p.Tyr592Cys) c.1208A>G (p.Tyr403Cys) n.94A>G c.1331A>G (p.Tyr444Cys) c.1628A>G (p.Tyr543Cys) c.1610A>G (p.Tyr537Cys) c.1319A>G (p.Tyr440Cys) c.1247A>G (p.Tyr416Cys) n.2113A>G n.2052A>G n.2006A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244231T>G | CA346071801 | DNMT3A | c.94A>C c.921A>C (n.921A>C) c.1106A>C (p.Tyr369Ser) c.1775A>C (p.Tyr592Ser) c.1208A>C (p.Tyr403Ser) n.94A>C c.1331A>C (p.Tyr444Ser) c.1628A>C (p.Tyr543Ser) c.1610A>C (p.Tyr537Ser) c.1319A>C (p.Tyr440Ser) c.1247A>C (p.Tyr416Ser) n.2113A>C n.2052A>C n.2006A>C | dbSNP |
2 | g.25244231T= | CA1239262844 | DNMT3A | c.94A= c.921A= (n.921A=) c.1106A= (p.Tyr369=) c.1775A= (p.Tyr592=) c.1208A= (p.Tyr403=) n.94A= c.1331A= (p.Tyr444=) c.1628A= (p.Tyr543=) c.1610A= (p.Tyr537=) c.1319A= (p.Tyr440=) c.1247A= (p.Tyr416=) n.2113A= n.2052A= n.2006A= | |
2 | g.25244231_25244232insCT | CA2576694298 | DNMT3A | c.94_95insGA c.921_922insGA (n.921_922insGA) c.1106_1107insGA (p.Tyr369Ter) c.1775_1776insGA (p.Tyr592Ter) c.1208_1209insGA (p.Tyr403Ter) n.94_95insGA c.1331_1332insGA (p.Tyr444Ter) c.1628_1629insGA (p.Tyr543Ter) c.1610_1611insGA (p.Tyr537Ter) c.1319_1320insGA (p.Tyr440Ter) c.1247_1248insGA (p.Tyr416Ter) n.2113_2114insGA n.2052_2053insGA n.2006_2007insGA | |
2 | g.25244231_25244232insGCCCGCAC | CA2658168552 | DNMT3A | c.93_94insGTGCGGGC c.920_921insGTGCGGGC (n.920_921insGTGCGGGC) c.1105_1106insGTGCGGGC (p.Tyr369CysfsTer?) c.1774_1775insGTGCGGGC (p.Tyr592CysfsTer?) c.1207_1208insGTGCGGGC (p.Tyr403CysfsTer?) n.93_94insGTGCGGGC c.1330_1331insGTGCGGGC (p.Tyr444CysfsTer?) c.1627_1628insGTGCGGGC (p.Tyr543CysfsTer?) c.1609_1610insGTGCGGGC (p.Tyr537CysfsTer?) c.1318_1319insGTGCGGGC (p.Tyr440CysfsTer?) c.1246_1247insGTGCGGGC (p.Tyr416CysfsTer?) n.2112_2113insGTGCGGGC n.2051_2052insGTGCGGGC n.2005_2006insGTGCGGGC | gnomAD v4 |
2 | g.25244232del | CA2658168553 | DNMT3A | c.93del c.920del (n.920del) c.1105del (p.Tyr369ThrfsTer?) c.1774del (p.Tyr592ThrfsTer?) c.1207del (p.Tyr403ThrfsTer?) n.93del c.1330del (p.Tyr444ThrfsTer?) c.1627del (p.Tyr543ThrfsTer?) c.1609del (p.Tyr537ThrfsTer?) c.1318del (p.Tyr440ThrfsTer?) c.1246del (p.Tyr416ThrfsTer?) n.2112del n.2051del n.2005del | gnomAD v4 |
2 | g.25244232A>C | CA346071804 | DNMT3A | c.93T>G c.920T>G (n.920T>G) c.1105T>G (p.Tyr369Asp) c.1774T>G (p.Tyr592Asp) c.1207T>G (p.Tyr403Asp) n.93T>G c.1330T>G (p.Tyr444Asp) c.1627T>G (p.Tyr543Asp) c.1609T>G (p.Tyr537Asp) c.1318T>G (p.Tyr440Asp) c.1246T>G (p.Tyr416Asp) n.2112T>G n.2051T>G n.2005T>G | |
2 | g.25244232A>G | CA346071805 | DNMT3A | c.93T>C c.920T>C (n.920T>C) c.1105T>C (p.Tyr369His) c.1774T>C (p.Tyr592His) c.1207T>C (p.Tyr403His) n.93T>C c.1330T>C (p.Tyr444His) c.1627T>C (p.Tyr543His) c.1609T>C (p.Tyr537His) c.1318T>C (p.Tyr440His) c.1246T>C (p.Tyr416His) n.2112T>C n.2051T>C n.2005T>C | |
2 | g.25244232A>T | CA346071806 | DNMT3A | c.93T>A c.920T>A (n.920T>A) c.1105T>A (p.Tyr369Asn) c.1774T>A (p.Tyr592Asn) c.1207T>A (p.Tyr403Asn) n.93T>A c.1330T>A (p.Tyr444Asn) c.1627T>A (p.Tyr543Asn) c.1609T>A (p.Tyr537Asn) c.1318T>A (p.Tyr440Asn) c.1246T>A (p.Tyr416Asn) n.2112T>A n.2051T>A n.2005T>A | |
2 | g.25244232_25244233delinsAG | CA1239262847 | DNMT3A | c.92_93delinsCT c.919_920delinsCT (n.919_920delinsCT) c.1104_1105delinsCT (p.Thr368=) c.1773_1774delinsCT (p.Thr591=) c.1206_1207delinsCT (p.Thr402=) n.92_93delinsCT c.1329_1330delinsCT (p.Thr443=) c.1626_1627delinsCT (p.Thr542=) c.1608_1609delinsCT (p.Thr536=) c.1317_1318delinsCT (p.Thr439=) c.1245_1246delinsCT (p.Thr415=) n.2111_2112delinsCT n.2050_2051delinsCT n.2004_2005delinsCT | |
2 | g.25244233_25244252del | CA2658168554 | DNMT3A | c.74_93del c.901_920del (n.901_920del) c.1086_1105del (p.Met362IlefsTer20) c.1755_1774del (p.Met585IlefsTer20) c.1188_1207del (p.Met396IlefsTer20) n.74_93del c.1311_1330del (p.Met437IlefsTer20) c.1608_1627del (p.Met536IlefsTer20) c.1590_1609del (p.Met530IlefsTer20) c.1299_1318del (p.Met433IlefsTer20) c.1227_1246del (p.Met409IlefsTer20) n.2093_2112del n.2032_2051del n.1986_2005del | gnomAD v4 |
2 | g.25244233G>A | CA425182293 | DNMT3A | c.92C>T c.919C>T (n.919C>T) c.1104C>T (p.Thr368=) c.1773C>T (p.Thr591=) c.1206C>T (p.Thr402=) n.92C>T c.1329C>T (p.Thr443=) c.1626C>T (p.Thr542=) c.1608C>T (p.Thr536=) c.1317C>T (p.Thr439=) c.1245C>T (p.Thr415=) n.2111C>T n.2050C>T n.2004C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244233G>C | CA425182294 | DNMT3A | c.92C>G c.919C>G (n.919C>G) c.1104C>G (p.Thr368=) c.1773C>G (p.Thr591=) c.1206C>G (p.Thr402=) n.92C>G c.1329C>G (p.Thr443=) c.1626C>G (p.Thr542=) c.1608C>G (p.Thr536=) c.1317C>G (p.Thr439=) c.1245C>G (p.Thr415=) n.2111C>G n.2050C>G n.2004C>G | |
2 | g.25244233G= | CA1239262849 | DNMT3A | c.92C= c.919C= (n.919C=) c.1104C= (p.Thr368=) c.1773C= (p.Thr591=) c.1206C= (p.Thr402=) n.92C= c.1329C= (p.Thr443=) c.1626C= (p.Thr542=) c.1608C= (p.Thr536=) c.1317C= (p.Thr439=) c.1245C= (p.Thr415=) n.2111C= n.2050C= n.2004C= | |
2 | g.25244233G>T | CA425182298 | DNMT3A | c.92C>A c.919C>A (n.919C>A) c.1104C>A (p.Thr368=) c.1773C>A (p.Thr591=) c.1206C>A (p.Thr402=) n.92C>A c.1329C>A (p.Thr443=) c.1626C>A (p.Thr542=) c.1608C>A (p.Thr536=) c.1317C>A (p.Thr439=) c.1245C>A (p.Thr415=) n.2111C>A n.2050C>A n.2004C>A | gnomAD v4 |
2 | g.25244234dup | CA2576694300 | DNMT3A | c.92dup c.919dup (n.919dup) c.1104dup (p.Tyr369LeufsTer20) c.1773dup (p.Tyr592LeufsTer20) c.1206dup (p.Tyr403LeufsTer20) n.92dup c.1329dup (p.Tyr444LeufsTer20) c.1626dup (p.Tyr543LeufsTer20) c.1608dup (p.Tyr537LeufsTer20) c.1317dup (p.Tyr440LeufsTer20) c.1245dup (p.Tyr416LeufsTer20) n.2111dup n.2050dup n.2004dup | gnomAD v4 |
2 | g.25244234del | CA531760991 | DNMT3A | c.92del c.919del (n.919del) c.1104del (p.Tyr369ThrfsTer?) c.1773del (p.Tyr592ThrfsTer?) c.1206del (p.Tyr403ThrfsTer?) n.92del c.1329del (p.Tyr444ThrfsTer?) c.1626del (p.Tyr543ThrfsTer?) c.1608del (p.Tyr537ThrfsTer?) c.1317del (p.Tyr440ThrfsTer?) c.1245del (p.Tyr416ThrfsTer?) n.2111del n.2050del n.2004del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244233_25244240del | CA2573051230 | DNMT3A | c.85_92del c.912_919del (n.912_919del) c.1097_1104del (p.Lys366IlefsTer20) c.1766_1773del (p.Lys589IlefsTer20) c.1199_1206del (p.Lys400IlefsTer20) n.85_92del c.1322_1329del (p.Lys441IlefsTer20) c.1619_1626del (p.Lys540IlefsTer20) c.1601_1608del (p.Lys534IlefsTer20) c.1310_1317del (p.Lys437IlefsTer20) c.1238_1245del (p.Lys413IlefsTer20) n.2104_2111del n.2043_2050del n.1997_2004del | |
2 | g.25244234_25244248del | CA2576694301 | DNMT3A | c.78_92del c.905_919del (n.905_919del) c.1090_1104del (p.Gly364_Thr368del) c.1759_1773del (p.Gly587_Thr591del) c.1192_1206del (p.Gly398_Thr402del) n.78_92del c.1315_1329del (p.Gly439_Thr443del) c.1612_1626del (p.Gly538_Thr542del) c.1594_1608del (p.Gly532_Thr536del) c.1303_1317del (p.Gly435_Thr439del) c.1231_1245del (p.Gly411_Thr415del) n.2097_2111del n.2036_2050del n.1990_2004del | |
2 | g.25244234G>A | CA346071807 | DNMT3A | c.91C>T c.918C>T (n.918C>T) c.1103C>T (p.Thr368Ile) c.1772C>T (p.Thr591Ile) c.1205C>T (p.Thr402Ile) n.91C>T c.1328C>T (p.Thr443Ile) c.1625C>T (p.Thr542Ile) c.1607C>T (p.Thr536Ile) c.1316C>T (p.Thr439Ile) c.1244C>T (p.Thr415Ile) n.2110C>T n.2049C>T n.2003C>T | dbSNP |
2 | g.25244234G>C | CA346071808 | DNMT3A | c.91C>G c.918C>G (n.918C>G) c.1103C>G (p.Thr368Ser) c.1772C>G (p.Thr591Ser) c.1205C>G (p.Thr402Ser) n.91C>G c.1328C>G (p.Thr443Ser) c.1625C>G (p.Thr542Ser) c.1607C>G (p.Thr536Ser) c.1316C>G (p.Thr439Ser) c.1244C>G (p.Thr415Ser) n.2110C>G n.2049C>G n.2003C>G | dbSNP |
2 | g.25244234G>T | CA346071809 | DNMT3A | c.91C>A c.918C>A (n.918C>A) c.1103C>A (p.Thr368Asn) c.1772C>A (p.Thr591Asn) c.1205C>A (p.Thr402Asn) n.91C>A c.1328C>A (p.Thr443Asn) c.1625C>A (p.Thr542Asn) c.1607C>A (p.Thr536Asn) c.1316C>A (p.Thr439Asn) c.1244C>A (p.Thr415Asn) n.2110C>A n.2049C>A n.2003C>A | |
2 | g.25244234_25244240del | CA2658168561 | DNMT3A | c.85_91del c.912_918del (n.912_918del) c.1097_1103del (p.Lys366ThrfsTer?) c.1766_1772del (p.Lys589ThrfsTer?) c.1199_1205del (p.Lys400ThrfsTer?) n.85_91del c.1322_1328del (p.Lys441ThrfsTer?) c.1619_1625del (p.Lys540ThrfsTer?) c.1601_1607del (p.Lys534ThrfsTer?) c.1310_1316del (p.Lys437ThrfsTer?) c.1238_1244del (p.Lys413ThrfsTer?) n.2104_2110del n.2043_2049del n.1997_2003del | gnomAD v4 |
2 | g.25244235del | CA2658168563 | DNMT3A | c.90del c.917del (n.917del) c.1102del (p.Thr368ProfsTer?) c.1771del (p.Thr591ProfsTer?) c.1204del (p.Thr402ProfsTer?) n.90del c.1327del (p.Thr443ProfsTer?) c.1624del (p.Thr542ProfsTer?) c.1606del (p.Thr536ProfsTer?) c.1315del (p.Thr439ProfsTer?) c.1243del (p.Thr415ProfsTer?) n.2109del n.2048del n.2002del | gnomAD v4 |
2 | g.25244235T>A | CA1555878 | DNMT3A | c.90A>T c.917A>T (n.917A>T) c.1102A>T (p.Thr368Ser) c.1771A>T (p.Thr591Ser) c.1204A>T (p.Thr402Ser) n.90A>T c.1327A>T (p.Thr443Ser) c.1624A>T (p.Thr542Ser) c.1606A>T (p.Thr536Ser) c.1315A>T (p.Thr439Ser) c.1243A>T (p.Thr415Ser) n.2109A>T n.2048A>T n.2002A>T | dbSNP ExAC gnomAD v2 |
2 | g.25244235T>C | CA346071810 | DNMT3A | c.90A>G c.917A>G (n.917A>G) c.1102A>G (p.Thr368Ala) c.1771A>G (p.Thr591Ala) c.1204A>G (p.Thr402Ala) n.90A>G c.1327A>G (p.Thr443Ala) c.1624A>G (p.Thr542Ala) c.1606A>G (p.Thr536Ala) c.1315A>G (p.Thr439Ala) c.1243A>G (p.Thr415Ala) n.2109A>G n.2048A>G n.2002A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244235T>G | CA346071811 | DNMT3A | c.90A>C c.917A>C (n.917A>C) c.1102A>C (p.Thr368Pro) c.1771A>C (p.Thr591Pro) c.1204A>C (p.Thr402Pro) n.90A>C c.1327A>C (p.Thr443Pro) c.1624A>C (p.Thr542Pro) c.1606A>C (p.Thr536Pro) c.1315A>C (p.Thr439Pro) c.1243A>C (p.Thr415Pro) n.2109A>C n.2048A>C n.2002A>C | |
2 | g.25244235T= | CA1239262855 | DNMT3A | c.90A= c.917A= (n.917A=) c.1102A= (p.Thr368=) c.1771A= (p.Thr591=) c.1204A= (p.Thr402=) n.90A= c.1327A= (p.Thr443=) c.1624A= (p.Thr542=) c.1606A= (p.Thr536=) c.1315A= (p.Thr439=) c.1243A= (p.Thr415=) n.2109A= n.2048A= n.2002A= | |
2 | g.25244236A>C | CA425182301 | DNMT3A | c.89T>G c.916T>G (n.916T>G) c.1101T>G (p.Gly367=) c.1770T>G (p.Gly590=) c.1203T>G (p.Gly401=) n.89T>G c.1326T>G (p.Gly442=) c.1623T>G (p.Gly541=) c.1605T>G (p.Gly535=) c.1314T>G (p.Gly438=) c.1242T>G (p.Gly414=) n.2108T>G n.2047T>G n.2001T>G | |
2 | g.25244236A>G | CA425182303 | DNMT3A | c.89T>C c.916T>C (n.916T>C) c.1101T>C (p.Gly367=) c.1770T>C (p.Gly590=) c.1203T>C (p.Gly401=) n.89T>C c.1326T>C (p.Gly442=) c.1623T>C (p.Gly541=) c.1605T>C (p.Gly535=) c.1314T>C (p.Gly438=) c.1242T>C (p.Gly414=) n.2108T>C n.2047T>C n.2001T>C | |
2 | g.25244236A>T | CA425182304 | DNMT3A | c.89T>A c.916T>A (n.916T>A) c.1101T>A (p.Gly367=) c.1770T>A (p.Gly590=) c.1203T>A (p.Gly401=) n.89T>A c.1326T>A (p.Gly442=) c.1623T>A (p.Gly541=) c.1605T>A (p.Gly535=) c.1314T>A (p.Gly438=) c.1242T>A (p.Gly414=) n.2108T>A n.2047T>A n.2001T>A | dbSNP |
2 | g.25244236_25244242del | CA2576694302 | DNMT3A | c.83_89del c.910_916del (n.910_916del) c.1095_1101del (p.His365GlnfsTer?) c.1764_1770del (p.His588GlnfsTer?) c.1197_1203del (p.His399GlnfsTer?) n.83_89del c.1320_1326del (p.His440GlnfsTer?) c.1617_1623del (p.His539GlnfsTer?) c.1599_1605del (p.His533GlnfsTer?) c.1308_1314del (p.His436GlnfsTer?) c.1236_1242del (p.His412GlnfsTer?) n.2102_2108del n.2041_2047del n.1995_2001del | |
2 | g.25244237C>A | CA346071812 | DNMT3A | c.88G>T c.915G>T (n.915G>T) c.1100G>T (p.Gly367Val) c.1769G>T (p.Gly590Val) c.1202G>T (p.Gly401Val) n.88G>T c.1325G>T (p.Gly442Val) c.1622G>T (p.Gly541Val) c.1604G>T (p.Gly535Val) c.1313G>T (p.Gly438Val) c.1241G>T (p.Gly414Val) n.2107G>T n.2046G>T n.2000G>T | |
2 | g.25244237C>G | CA346071813 | DNMT3A | c.88G>C c.915G>C (n.915G>C) c.1100G>C (p.Gly367Ala) c.1769G>C (p.Gly590Ala) c.1202G>C (p.Gly401Ala) n.88G>C c.1325G>C (p.Gly442Ala) c.1622G>C (p.Gly541Ala) c.1604G>C (p.Gly535Ala) c.1313G>C (p.Gly438Ala) c.1241G>C (p.Gly414Ala) n.2107G>C n.2046G>C n.2000G>C | |
2 | g.25244237C>T | CA346071814 | DNMT3A | c.88G>A c.915G>A (n.915G>A) c.1100G>A (p.Gly367Asp) c.1769G>A (p.Gly590Asp) c.1202G>A (p.Gly401Asp) n.88G>A c.1325G>A (p.Gly442Asp) c.1622G>A (p.Gly541Asp) c.1604G>A (p.Gly535Asp) c.1313G>A (p.Gly438Asp) c.1241G>A (p.Gly414Asp) n.2107G>A n.2046G>A n.2000G>A | dbSNP |
2 | g.25244239dup | CA2658168568 | DNMT3A | c.88dup c.915dup (n.915dup) c.1100dup (p.Thr368TyrfsTer21) c.1769dup (p.Thr591TyrfsTer21) c.1202dup (p.Thr402TyrfsTer21) n.88dup c.1325dup (p.Thr443TyrfsTer21) c.1622dup (p.Thr542TyrfsTer21) c.1604dup (p.Thr536TyrfsTer21) c.1313dup (p.Thr439TyrfsTer21) c.1241dup (p.Thr415TyrfsTer21) n.2107dup n.2046dup n.2000dup | gnomAD v4 |
2 | g.25244239del | CA425182311 | DNMT3A | c.88del c.915del (n.915del) c.1100del (p.Gly367ValfsTer?) c.1769del (p.Gly590ValfsTer?) c.1202del (p.Gly401ValfsTer?) n.88del c.1325del (p.Gly442ValfsTer?) c.1622del (p.Gly541ValfsTer?) c.1604del (p.Gly535ValfsTer?) c.1313del (p.Gly438ValfsTer?) c.1241del (p.Gly414ValfsTer?) n.2107del n.2046del n.2000del | gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.25244238C>A | CA346071817 | DNMT3A | c.87G>T c.914G>T (n.914G>T) c.1099G>T (p.Gly367Cys) c.1768G>T (p.Gly590Cys) c.1201G>T (p.Gly401Cys) n.87G>T c.1324G>T (p.Gly442Cys) c.1621G>T (p.Gly541Cys) c.1603G>T (p.Gly535Cys) c.1312G>T (p.Gly438Cys) c.1240G>T (p.Gly414Cys) n.2106G>T n.2045G>T n.1999G>T | |
2 | g.25244238C>G | CA346071815 | DNMT3A | c.87G>C c.914G>C (n.914G>C) c.1099G>C (p.Gly367Arg) c.1768G>C (p.Gly590Arg) c.1201G>C (p.Gly401Arg) n.87G>C c.1324G>C (p.Gly442Arg) c.1621G>C (p.Gly541Arg) c.1603G>C (p.Gly535Arg) c.1312G>C (p.Gly438Arg) c.1240G>C (p.Gly414Arg) n.2106G>C n.2045G>C n.1999G>C | |
2 | g.25244238C>T | CA346071816 | DNMT3A | c.87G>A c.914G>A (n.914G>A) c.1099G>A (p.Gly367Ser) c.1768G>A (p.Gly590Ser) c.1201G>A (p.Gly401Ser) n.87G>A c.1324G>A (p.Gly442Ser) c.1621G>A (p.Gly541Ser) c.1603G>A (p.Gly535Ser) c.1312G>A (p.Gly438Ser) c.1240G>A (p.Gly414Ser) n.2106G>A n.2045G>A n.1999G>A | gnomAD v4 |
2 | g.25244239C>A | CA346071818 | DNMT3A | c.86G>T c.913G>T (n.913G>T) c.1098G>T (p.Lys366Asn) c.1767G>T (p.Lys589Asn) c.1200G>T (p.Lys400Asn) n.86G>T c.1323G>T (p.Lys441Asn) c.1620G>T (p.Lys540Asn) c.1602G>T (p.Lys534Asn) c.1311G>T (p.Lys437Asn) c.1239G>T (p.Lys413Asn) n.2105G>T n.2044G>T n.1998G>T | dbSNP |
2 | g.25244239C>G | CA346071819 | DNMT3A | c.86G>C c.913G>C (n.913G>C) c.1098G>C (p.Lys366Asn) c.1767G>C (p.Lys589Asn) c.1200G>C (p.Lys400Asn) n.86G>C c.1323G>C (p.Lys441Asn) c.1620G>C (p.Lys540Asn) c.1602G>C (p.Lys534Asn) c.1311G>C (p.Lys437Asn) c.1239G>C (p.Lys413Asn) n.2105G>C n.2044G>C n.1998G>C | |
2 | g.25244239C>T | CA425182320 | DNMT3A | c.86G>A c.913G>A (n.913G>A) c.1098G>A (p.Lys366=) c.1767G>A (p.Lys589=) c.1200G>A (p.Lys400=) n.86G>A c.1323G>A (p.Lys441=) c.1620G>A (p.Lys540=) c.1602G>A (p.Lys534=) c.1311G>A (p.Lys437=) c.1239G>A (p.Lys413=) n.2105G>A n.2044G>A n.1998G>A | |
2 | g.25244240T>A | CA346071820 | DNMT3A | c.85A>T c.912A>T (n.912A>T) c.1097A>T (p.Lys366Met) c.1766A>T (p.Lys589Met) c.1199A>T (p.Lys400Met) n.85A>T c.1322A>T (p.Lys441Met) c.1619A>T (p.Lys540Met) c.1601A>T (p.Lys534Met) c.1310A>T (p.Lys437Met) c.1238A>T (p.Lys413Met) n.2104A>T n.2043A>T n.1997A>T | gnomAD v4 |
2 | g.25244240T>C | CA346071821 | DNMT3A | c.85A>G c.912A>G (n.912A>G) c.1097A>G (p.Lys366Arg) c.1766A>G (p.Lys589Arg) c.1199A>G (p.Lys400Arg) n.85A>G c.1322A>G (p.Lys441Arg) c.1619A>G (p.Lys540Arg) c.1601A>G (p.Lys534Arg) c.1310A>G (p.Lys437Arg) c.1238A>G (p.Lys413Arg) n.2104A>G n.2043A>G n.1997A>G | ClinVar dbSNP gnomAD v4 |
2 | g.25244240T>G | CA346071822 | DNMT3A | c.85A>C c.912A>C (n.912A>C) c.1097A>C (p.Lys366Thr) c.1766A>C (p.Lys589Thr) c.1199A>C (p.Lys400Thr) n.85A>C c.1322A>C (p.Lys441Thr) c.1619A>C (p.Lys540Thr) c.1601A>C (p.Lys534Thr) c.1310A>C (p.Lys437Thr) c.1238A>C (p.Lys413Thr) n.2104A>C n.2043A>C n.1997A>C | |
2 | g.25244240T= | CA1239262860 | DNMT3A | c.85A= c.912A= (n.912A=) c.1097A= (p.Lys366=) c.1766A= (p.Lys589=) c.1199A= (p.Lys400=) n.85A= c.1322A= (p.Lys441=) c.1619A= (p.Lys540=) c.1601A= (p.Lys534=) c.1310A= (p.Lys437=) c.1238A= (p.Lys413=) n.2104A= n.2043A= n.1997A= | |
2 | g.25244241del | CA2576694303 | DNMT3A | c.85del c.912del (n.912del) c.1097del (p.Lys366ArgfsTer?) c.1766del (p.Lys589ArgfsTer?) c.1199del (p.Lys400ArgfsTer?) n.85del c.1322del (p.Lys441ArgfsTer?) c.1619del (p.Lys540ArgfsTer?) c.1601del (p.Lys534ArgfsTer?) c.1310del (p.Lys437ArgfsTer?) c.1238del (p.Lys413ArgfsTer?) n.2104del n.2043del n.1997del | gnomAD v4 |
2 | g.25244240_25244241insG | CA2658168575 | DNMT3A | c.84_85insC c.911_912insC (n.911_912insC) c.1096_1097insC (p.Lys366ThrfsTer23) c.1765_1766insC (p.Lys589ThrfsTer23) c.1198_1199insC (p.Lys400ThrfsTer23) n.84_85insC c.1321_1322insC (p.Lys441ThrfsTer23) c.1618_1619insC (p.Lys540ThrfsTer23) c.1600_1601insC (p.Lys534ThrfsTer23) c.1309_1310insC (p.Lys437ThrfsTer23) c.1237_1238insC (p.Lys413ThrfsTer23) n.2103_2104insC n.2042_2043insC n.1996_1997insC | gnomAD v4 |
2 | g.25244241T>A | CA346071823 | DNMT3A | c.84A>T c.911A>T (n.911A>T) c.1096A>T (p.Lys366Ter) c.1765A>T (p.Lys589Ter) c.1198A>T (p.Lys400Ter) n.84A>T c.1321A>T (p.Lys441Ter) c.1618A>T (p.Lys540Ter) c.1600A>T (p.Lys534Ter) c.1309A>T (p.Lys437Ter) c.1237A>T (p.Lys413Ter) n.2103A>T n.2042A>T n.1996A>T | gnomAD v4 |
2 | g.25244241T>C | CA346071824 | DNMT3A | c.84A>G c.911A>G (n.911A>G) c.1096A>G (p.Lys366Glu) c.1765A>G (p.Lys589Glu) c.1198A>G (p.Lys400Glu) n.84A>G c.1321A>G (p.Lys441Glu) c.1618A>G (p.Lys540Glu) c.1600A>G (p.Lys534Glu) c.1309A>G (p.Lys437Glu) c.1237A>G (p.Lys413Glu) n.2103A>G n.2042A>G n.1996A>G | gnomAD v4 |
2 | g.25244241T>G | CA346071825 | DNMT3A | c.84A>C c.911A>C (n.911A>C) c.1096A>C (p.Lys366Gln) c.1765A>C (p.Lys589Gln) c.1198A>C (p.Lys400Gln) n.84A>C c.1321A>C (p.Lys441Gln) c.1618A>C (p.Lys540Gln) c.1600A>C (p.Lys534Gln) c.1309A>C (p.Lys437Gln) c.1237A>C (p.Lys413Gln) n.2103A>C n.2042A>C n.1996A>C | |
2 | g.25244241_25244242delinsTG | CA1239262862 | DNMT3A | c.83_84delinsCA c.910_911delinsCA (n.910_911delinsCA) c.1095_1096delinsCA (p.His365=) c.1764_1765delinsCA (p.His588=) c.1197_1198delinsCA (p.His399=) n.83_84delinsCA c.1320_1321delinsCA (p.His440=) c.1617_1618delinsCA (p.His539=) c.1599_1600delinsCA (p.His533=) c.1308_1309delinsCA (p.His436=) c.1236_1237delinsCA (p.His412=) n.2102_2103delinsCA n.2041_2042delinsCA n.1995_1996delinsCA | |
2 | g.25244242del | CA1555879 | DNMT3A | c.83del c.910del (n.910del) c.1095del (p.His365GlnfsTer?) c.1764del (p.His588GlnfsTer?) c.1197del (p.His399GlnfsTer?) n.83del c.1320del (p.His440GlnfsTer?) c.1617del (p.His539GlnfsTer?) c.1599del (p.His533GlnfsTer?) c.1308del (p.His436GlnfsTer?) c.1236del (p.His412GlnfsTer?) n.2102del n.2041del n.1995del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244242G>A | CA425182329 | DNMT3A | c.83C>T c.910C>T (n.910C>T) c.1095C>T (p.His365=) c.1764C>T (p.His588=) c.1197C>T (p.His399=) n.83C>T c.1320C>T (p.His440=) c.1617C>T (p.His539=) c.1599C>T (p.His533=) c.1308C>T (p.His436=) c.1236C>T (p.His412=) n.2102C>T n.2041C>T n.1995C>T | dbSNP gnomAD v4 |
2 | g.25244242G>C | CA346071826 | DNMT3A | c.83C>G c.910C>G (n.910C>G) c.1095C>G (p.His365Gln) c.1764C>G (p.His588Gln) c.1197C>G (p.His399Gln) n.83C>G c.1320C>G (p.His440Gln) c.1617C>G (p.His539Gln) c.1599C>G (p.His533Gln) c.1308C>G (p.His436Gln) c.1236C>G (p.His412Gln) n.2102C>G n.2041C>G n.1995C>G | gnomAD v4 |
2 | g.25244242G>T | CA346071827 | DNMT3A | c.83C>A c.910C>A (n.910C>A) c.1095C>A (p.His365Gln) c.1764C>A (p.His588Gln) c.1197C>A (p.His399Gln) n.83C>A c.1320C>A (p.His440Gln) c.1617C>A (p.His539Gln) c.1599C>A (p.His533Gln) c.1308C>A (p.His436Gln) c.1236C>A (p.His412Gln) n.2102C>A n.2041C>A n.1995C>A | |
2 | g.25244243T>A | CA346071828 | DNMT3A | c.82A>T c.909A>T (n.909A>T) c.1094A>T (p.His365Leu) c.1763A>T (p.His588Leu) c.1196A>T (p.His399Leu) n.82A>T c.1319A>T (p.His440Leu) c.1616A>T (p.His539Leu) c.1598A>T (p.His533Leu) c.1307A>T (p.His436Leu) c.1235A>T (p.His412Leu) n.2101A>T n.2040A>T n.1994A>T | |
2 | g.25244243T>C | CA346071829 | DNMT3A | c.82A>G c.909A>G (n.909A>G) c.1094A>G (p.His365Arg) c.1763A>G (p.His588Arg) c.1196A>G (p.His399Arg) n.82A>G c.1319A>G (p.His440Arg) c.1616A>G (p.His539Arg) c.1598A>G (p.His533Arg) c.1307A>G (p.His436Arg) c.1235A>G (p.His412Arg) n.2101A>G n.2040A>G n.1994A>G | |
2 | g.25244243T>G | CA346071830 | DNMT3A | c.82A>C c.909A>C (n.909A>C) c.1094A>C (p.His365Pro) c.1763A>C (p.His588Pro) c.1196A>C (p.His399Pro) n.82A>C c.1319A>C (p.His440Pro) c.1616A>C (p.His539Pro) c.1598A>C (p.His533Pro) c.1307A>C (p.His436Pro) c.1235A>C (p.His412Pro) n.2101A>C n.2040A>C n.1994A>C | |
2 | g.25244243_25244253del | CA2576694304 | DNMT3A | c.72_82del c.899_909del (n.899_909del) c.1084_1094del (p.Met362GlnfsTer23) c.1753_1763del (p.Met585GlnfsTer23) c.1186_1196del (p.Met396GlnfsTer23) n.72_82del c.1309_1319del (p.Met437GlnfsTer23) c.1606_1616del (p.Met536GlnfsTer23) c.1588_1598del (p.Met530GlnfsTer23) c.1297_1307del (p.Met433GlnfsTer23) c.1225_1235del (p.Met409GlnfsTer23) n.2091_2101del n.2030_2040del n.1984_1994del | |
2 | g.25244244G>A | CA346071833 | DNMT3A | c.81C>T c.908C>T (n.908C>T) c.1093C>T (p.His365Tyr) c.1762C>T (p.His588Tyr) c.1195C>T (p.His399Tyr) n.81C>T c.1318C>T (p.His440Tyr) c.1615C>T (p.His539Tyr) c.1597C>T (p.His533Tyr) c.1306C>T (p.His436Tyr) c.1234C>T (p.His412Tyr) n.2100C>T n.2039C>T n.1993C>T | |
2 | g.25244244G>C | CA346071832 | DNMT3A | c.81C>G c.908C>G (n.908C>G) c.1093C>G (p.His365Asp) c.1762C>G (p.His588Asp) c.1195C>G (p.His399Asp) n.81C>G c.1318C>G (p.His440Asp) c.1615C>G (p.His539Asp) c.1597C>G (p.His533Asp) c.1306C>G (p.His436Asp) c.1234C>G (p.His412Asp) n.2100C>G n.2039C>G n.1993C>G | |
2 | g.25244244G>T | CA346071831 | DNMT3A | c.81C>A c.908C>A (n.908C>A) c.1093C>A (p.His365Asn) c.1762C>A (p.His588Asn) c.1195C>A (p.His399Asn) n.81C>A c.1318C>A (p.His440Asn) c.1615C>A (p.His539Asn) c.1597C>A (p.His533Asn) c.1306C>A (p.His436Asn) c.1234C>A (p.His412Asn) n.2100C>A n.2039C>A n.1993C>A | gnomAD v4 |
2 | g.25244244_25244245del | CA2658168591 | DNMT3A | c.80_81del c.907_908del (n.907_908del) c.1092_1093del (p.His365GlnfsTer23) c.1761_1762del (p.His588GlnfsTer23) c.1194_1195del (p.His399GlnfsTer23) n.80_81del c.1317_1318del (p.His440GlnfsTer23) c.1614_1615del (p.His539GlnfsTer23) c.1596_1597del (p.His533GlnfsTer23) c.1305_1306del (p.His436GlnfsTer23) c.1233_1234del (p.His412GlnfsTer23) n.2099_2100del n.2038_2039del n.1992_1993del | gnomAD v4 |
2 | g.25244244_25244245delinsGC | CA1239262866 | DNMT3A | c.80_81delinsGC c.907_908delinsGC (n.907_908delinsGC) c.1092_1093delinsGC (p.Gly364=) c.1761_1762delinsGC (p.Gly587=) c.1194_1195delinsGC (p.Gly398=) n.80_81delinsGC c.1317_1318delinsGC (p.Gly439=) c.1614_1615delinsGC (p.Gly538=) c.1596_1597delinsGC (p.Gly532=) c.1305_1306delinsGC (p.Gly435=) c.1233_1234delinsGC (p.Gly411=) n.2099_2100delinsGC n.2038_2039delinsGC n.1992_1993delinsGC | |
2 | g.25244246_25244249dup | CA2658168586 | DNMT3A | c.78_81dup c.905_908dup (n.905_908dup) c.1090_1093dup (p.His365ArgfsTer25) c.1759_1762dup (p.His588ArgfsTer25) c.1192_1195dup (p.His399ArgfsTer25) n.78_81dup c.1315_1318dup (p.His440ArgfsTer25) c.1612_1615dup (p.His539ArgfsTer25) c.1594_1597dup (p.His533ArgfsTer25) c.1303_1306dup (p.His436ArgfsTer25) c.1231_1234dup (p.His412ArgfsTer25) n.2097_2100dup n.2036_2039dup n.1990_1993dup | gnomAD v4 |
2 | g.25244245C>A | CA425182342 | DNMT3A | c.80G>T c.907G>T (n.907G>T) c.1092G>T (p.Gly364=) c.1761G>T (p.Gly587=) c.1194G>T (p.Gly398=) n.80G>T c.1317G>T (p.Gly439=) c.1614G>T (p.Gly538=) c.1596G>T (p.Gly532=) c.1305G>T (p.Gly435=) c.1233G>T (p.Gly411=) n.2099G>T n.2038G>T n.1992G>T | gnomAD v4 |
2 | g.25244245C>G | CA425182343 | DNMT3A | c.80G>C c.907G>C (n.907G>C) c.1092G>C (p.Gly364=) c.1761G>C (p.Gly587=) c.1194G>C (p.Gly398=) n.80G>C c.1317G>C (p.Gly439=) c.1614G>C (p.Gly538=) c.1596G>C (p.Gly532=) c.1305G>C (p.Gly435=) c.1233G>C (p.Gly411=) n.2099G>C n.2038G>C n.1992G>C | |
2 | g.25244245C>T | CA425182345 | DNMT3A | c.80G>A c.907G>A (n.907G>A) c.1092G>A (p.Gly364=) c.1761G>A (p.Gly587=) c.1194G>A (p.Gly398=) n.80G>A c.1317G>A (p.Gly439=) c.1614G>A (p.Gly538=) c.1596G>A (p.Gly532=) c.1305G>A (p.Gly435=) c.1233G>A (p.Gly411=) n.2099G>A n.2038G>A n.1992G>A | dbSNP |
2 | g.25244247del | CA767176377 | DNMT3A | c.80del c.907del (n.907del) c.1092del (p.His365ThrfsTer?) c.1761del (p.His588ThrfsTer?) c.1194del (p.His399ThrfsTer?) n.80del c.1317del (p.His440ThrfsTer?) c.1614del (p.His539ThrfsTer?) c.1596del (p.His533ThrfsTer?) c.1305del (p.His436ThrfsTer?) c.1233del (p.His412ThrfsTer?) n.2099del n.2038del n.1992del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244246C>A | CA346071834 | DNMT3A | c.79G>T c.906G>T (n.906G>T) c.1091G>T (p.Gly364Val) c.1760G>T (p.Gly587Val) c.1193G>T (p.Gly398Val) n.79G>T c.1316G>T (p.Gly439Val) c.1613G>T (p.Gly538Val) c.1595G>T (p.Gly532Val) c.1304G>T (p.Gly435Val) c.1232G>T (p.Gly411Val) n.2098G>T n.2037G>T n.1991G>T | gnomAD v4 |
2 | g.25244246C>G | CA346071835 | DNMT3A | c.79G>C c.906G>C (n.906G>C) c.1091G>C (p.Gly364Ala) c.1760G>C (p.Gly587Ala) c.1193G>C (p.Gly398Ala) n.79G>C c.1316G>C (p.Gly439Ala) c.1613G>C (p.Gly538Ala) c.1595G>C (p.Gly532Ala) c.1304G>C (p.Gly435Ala) c.1232G>C (p.Gly411Ala) n.2098G>C n.2037G>C n.1991G>C | |
2 | g.25244246C>T | CA346071836 | DNMT3A | c.79G>A c.906G>A (n.906G>A) c.1091G>A (p.Gly364Glu) c.1760G>A (p.Gly587Glu) c.1193G>A (p.Gly398Glu) n.79G>A c.1316G>A (p.Gly439Glu) c.1613G>A (p.Gly538Glu) c.1595G>A (p.Gly532Glu) c.1304G>A (p.Gly435Glu) c.1232G>A (p.Gly411Glu) n.2098G>A n.2037G>A n.1991G>A | gnomAD v4 |
2 | g.25244247C>A | CA346071837 | DNMT3A | c.78G>T c.905G>T (n.905G>T) c.1090G>T (p.Gly364Trp) c.1759G>T (p.Gly587Trp) c.1192G>T (p.Gly398Trp) n.78G>T c.1315G>T (p.Gly439Trp) c.1612G>T (p.Gly538Trp) c.1594G>T (p.Gly532Trp) c.1303G>T (p.Gly435Trp) c.1231G>T (p.Gly411Trp) n.2097G>T n.2036G>T n.1990G>T | ClinVar dbSNP |
2 | g.25244247C= | CA1239262869 | DNMT3A | c.78G= c.905G= (n.905G=) c.1090G= (p.Gly364=) c.1759G= (p.Gly587=) c.1192G= (p.Gly398=) n.78G= c.1315G= (p.Gly439=) c.1612G= (p.Gly538=) c.1594G= (p.Gly532=) c.1303G= (p.Gly435=) c.1231G= (p.Gly411=) n.2097G= n.2036G= n.1990G= | |
2 | g.25244247C>G | CA346071838 | DNMT3A | c.78G>C c.905G>C (n.905G>C) c.1090G>C (p.Gly364Arg) c.1759G>C (p.Gly587Arg) c.1192G>C (p.Gly398Arg) n.78G>C c.1315G>C (p.Gly439Arg) c.1612G>C (p.Gly538Arg) c.1594G>C (p.Gly532Arg) c.1303G>C (p.Gly435Arg) c.1231G>C (p.Gly411Arg) n.2097G>C n.2036G>C n.1990G>C | |
2 | g.25244247C>T | CA346071839 | DNMT3A | c.78G>A c.905G>A (n.905G>A) c.1090G>A (p.Gly364Arg) c.1759G>A (p.Gly587Arg) c.1192G>A (p.Gly398Arg) n.78G>A c.1315G>A (p.Gly439Arg) c.1612G>A (p.Gly538Arg) c.1594G>A (p.Gly532Arg) c.1303G>A (p.Gly435Arg) c.1231G>A (p.Gly411Arg) n.2097G>A n.2036G>A n.1990G>A | dbSNP gnomAD v4 |
2 | g.25244248del | CA2658168606 | DNMT3A | c.77del c.904del (n.904del) c.1089del (p.Cys363TrpfsTer?) c.1758del (p.Cys586TrpfsTer?) c.1191del (p.Cys397TrpfsTer?) n.77del c.1314del (p.Cys438TrpfsTer?) c.1611del (p.Cys537TrpfsTer?) c.1593del (p.Cys531TrpfsTer?) c.1302del (p.Cys434TrpfsTer?) c.1230del (p.Cys410TrpfsTer?) n.2096del n.2035del n.1989del | gnomAD v4 |
2 | g.25244248G>A | CA1555880 | DNMT3A | c.77C>T c.904C>T (n.904C>T) c.1089C>T (p.Cys363=) c.1758C>T (p.Cys586=) c.1191C>T (p.Cys397=) n.77C>T c.1314C>T (p.Cys438=) c.1611C>T (p.Cys537=) c.1593C>T (p.Cys531=) c.1302C>T (p.Cys434=) c.1230C>T (p.Cys410=) n.2096C>T n.2035C>T n.1989C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25244248G>C | CA346071840 | DNMT3A | c.77C>G c.904C>G (n.904C>G) c.1089C>G (p.Cys363Trp) c.1758C>G (p.Cys586Trp) c.1191C>G (p.Cys397Trp) n.77C>G c.1314C>G (p.Cys438Trp) c.1611C>G (p.Cys537Trp) c.1593C>G (p.Cys531Trp) c.1302C>G (p.Cys434Trp) c.1230C>G (p.Cys410Trp) n.2096C>G n.2035C>G n.1989C>G | gnomAD v4 |
2 | g.25244248G= | CA1239262872 | DNMT3A | c.77C= c.904C= (n.904C=) c.1089C= (p.Cys363=) c.1758C= (p.Cys586=) c.1191C= (p.Cys397=) n.77C= c.1314C= (p.Cys438=) c.1611C= (p.Cys537=) c.1593C= (p.Cys531=) c.1302C= (p.Cys434=) c.1230C= (p.Cys410=) n.2096C= n.2035C= n.1989C= | |
2 | g.25244248G>T | CA346071841 | DNMT3A | c.77C>A c.904C>A (n.904C>A) c.1089C>A (p.Cys363Ter) c.1758C>A (p.Cys586Ter) c.1191C>A (p.Cys397Ter) n.77C>A c.1314C>A (p.Cys438Ter) c.1611C>A (p.Cys537Ter) c.1593C>A (p.Cys531Ter) c.1302C>A (p.Cys434Ter) c.1230C>A (p.Cys410Ter) n.2096C>A n.2035C>A n.1989C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244249C>A | CA346071842 | DNMT3A | c.76G>T c.903G>T (n.903G>T) c.1088G>T (p.Cys363Phe) c.1757G>T (p.Cys586Phe) c.1190G>T (p.Cys397Phe) n.76G>T c.1313G>T (p.Cys438Phe) c.1610G>T (p.Cys537Phe) c.1592G>T (p.Cys531Phe) c.1301G>T (p.Cys434Phe) c.1229G>T (p.Cys410Phe) n.2095G>T n.2034G>T n.1988G>T | ClinVar dbSNP |
2 | g.25244249C= | CA1239262875 | DNMT3A | c.76G= c.903G= (n.903G=) c.1088G= (p.Cys363=) c.1757G= (p.Cys586=) c.1190G= (p.Cys397=) n.76G= c.1313G= (p.Cys438=) c.1610G= (p.Cys537=) c.1592G= (p.Cys531=) c.1301G= (p.Cys434=) c.1229G= (p.Cys410=) n.2095G= n.2034G= n.1988G= | |
2 | g.25244249C>G | CA346071843 | DNMT3A | c.76G>C c.903G>C (n.903G>C) c.1088G>C (p.Cys363Ser) c.1757G>C (p.Cys586Ser) c.1190G>C (p.Cys397Ser) n.76G>C c.1313G>C (p.Cys438Ser) c.1610G>C (p.Cys537Ser) c.1592G>C (p.Cys531Ser) c.1301G>C (p.Cys434Ser) c.1229G>C (p.Cys410Ser) n.2095G>C n.2034G>C n.1988G>C | |
2 | g.25244249C>T | CA1555881 | DNMT3A | c.76G>A c.903G>A (n.903G>A) c.1088G>A (p.Cys363Tyr) c.1757G>A (p.Cys586Tyr) c.1190G>A (p.Cys397Tyr) n.76G>A c.1313G>A (p.Cys438Tyr) c.1610G>A (p.Cys537Tyr) c.1592G>A (p.Cys531Tyr) c.1301G>A (p.Cys434Tyr) c.1229G>A (p.Cys410Tyr) n.2095G>A n.2034G>A n.1988G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244251_25244252dup | CA2576694308 | DNMT3A | c.75_76dup c.902_903dup (n.902_903dup) c.1087_1088dup (p.Gly364AlafsTer?) c.1756_1757dup (p.Gly587AlafsTer?) c.1189_1190dup (p.Gly398AlafsTer?) n.75_76dup c.1312_1313dup (p.Gly439AlafsTer?) c.1609_1610dup (p.Gly538AlafsTer?) c.1591_1592dup (p.Gly532AlafsTer?) c.1300_1301dup (p.Gly435AlafsTer?) c.1228_1229dup (p.Gly411AlafsTer?) n.2094_2095dup n.2033_2034dup n.1987_1988dup | |
2 | g.25244251_25244252del | CA2658168624 | DNMT3A | c.75_76del c.902_903del (n.902_903del) c.1087_1088del (p.Cys363ArgfsTer25) c.1756_1757del (p.Cys586ArgfsTer25) c.1189_1190del (p.Cys397ArgfsTer25) n.75_76del c.1312_1313del (p.Cys438ArgfsTer25) c.1609_1610del (p.Cys537ArgfsTer25) c.1591_1592del (p.Cys531ArgfsTer25) c.1300_1301del (p.Cys434ArgfsTer25) c.1228_1229del (p.Cys410ArgfsTer25) n.2094_2095del n.2033_2034del n.1987_1988del | gnomAD v4 |
2 | g.25244249_25244260delinsCACATGTAGCAG | CA1239262878 | DNMT3A | c.65_76delinsCTGCTACATGTG c.892_903delinsCTGCTACATGTG (n.892_903delinsCTGCTACATGTG) c.1077_1088delinsCTGCTACATGTG (p.Asn359=) c.1746_1757delinsCTGCTACATGTG (p.Asn582=) c.1179_1190delinsCTGCTACATGTG (p.Asn393=) n.65_76delinsCTGCTACATGTG c.1302_1313delinsCTGCTACATGTG (p.Asn434=) c.1599_1610delinsCTGCTACATGTG (p.Asn533=) c.1581_1592delinsCTGCTACATGTG (p.Asn527=) c.1290_1301delinsCTGCTACATGTG (p.Asn430=) c.1218_1229delinsCTGCTACATGTG (p.Asn406=) n.2084_2095delinsCTGCTACATGTG n.2023_2034delinsCTGCTACATGTG n.1977_1988delinsCTGCTACATGTG | |
2 | g.25244250A= | CA1239262882 | DNMT3A | c.75T= c.902T= (n.902T=) c.1087T= (p.Cys363=) c.1756T= (p.Cys586=) c.1189T= (p.Cys397=) n.75T= c.1312T= (p.Cys438=) c.1609T= (p.Cys537=) c.1591T= (p.Cys531=) c.1300T= (p.Cys434=) c.1228T= (p.Cys410=) n.2094T= n.2033T= n.1987T= | |
2 | g.25244250A>C | CA346071844 | DNMT3A | c.75T>G c.902T>G (n.902T>G) c.1087T>G (p.Cys363Gly) c.1756T>G (p.Cys586Gly) c.1189T>G (p.Cys397Gly) n.75T>G c.1312T>G (p.Cys438Gly) c.1609T>G (p.Cys537Gly) c.1591T>G (p.Cys531Gly) c.1300T>G (p.Cys434Gly) c.1228T>G (p.Cys410Gly) n.2094T>G n.2033T>G n.1987T>G | |
2 | g.25244250A>G | CA346071845 | DNMT3A | c.75T>C c.902T>C (n.902T>C) c.1087T>C (p.Cys363Arg) c.1756T>C (p.Cys586Arg) c.1189T>C (p.Cys397Arg) n.75T>C c.1312T>C (p.Cys438Arg) c.1609T>C (p.Cys537Arg) c.1591T>C (p.Cys531Arg) c.1300T>C (p.Cys434Arg) c.1228T>C (p.Cys410Arg) n.2094T>C n.2033T>C n.1987T>C | |
2 | g.25244250A>T | CA346071846 | DNMT3A | c.75T>A c.902T>A (n.902T>A) c.1087T>A (p.Cys363Ser) c.1756T>A (p.Cys586Ser) c.1189T>A (p.Cys397Ser) n.75T>A c.1312T>A (p.Cys438Ser) c.1609T>A (p.Cys537Ser) c.1591T>A (p.Cys531Ser) c.1300T>A (p.Cys434Ser) c.1228T>A (p.Cys410Ser) n.2094T>A n.2033T>A n.1987T>A | |
2 | g.25244250dup | CA1239262884 | DNMT3A | c.75dup c.902dup (n.902dup) c.1087dup (p.Cys363LeufsTer26) c.1756dup (p.Cys586LeufsTer26) c.1189dup (p.Cys397LeufsTer26) n.75dup c.1312dup (p.Cys438LeufsTer26) c.1609dup (p.Cys537LeufsTer26) c.1591dup (p.Cys531LeufsTer26) c.1300dup (p.Cys434LeufsTer26) c.1228dup (p.Cys410LeufsTer26) n.2094dup n.2033dup n.1987dup | dbSNP |
2 | g.25244250_25244251delinsAC | CA1239262880 | DNMT3A | c.74_75delinsGT c.901_902delinsGT (n.901_902delinsGT) c.1086_1087delinsGT (p.Met362=) c.1755_1756delinsGT (p.Met585=) c.1188_1189delinsGT (p.Met396=) n.74_75delinsGT c.1311_1312delinsGT (p.Met437=) c.1608_1609delinsGT (p.Met536=) c.1590_1591delinsGT (p.Met530=) c.1299_1300delinsGT (p.Met433=) c.1227_1228delinsGT (p.Met409=) n.2093_2094delinsGT n.2032_2033delinsGT n.1986_1987delinsGT | |
2 | g.25244250_25244260del | CA1028509745 | DNMT3A | c.65_75del c.892_902del (n.892_902del) c.1077_1087del (p.Asn359LysfsTer26) c.1746_1756del (p.Asn582LysfsTer26) c.1179_1189del (p.Asn393LysfsTer26) n.65_75del c.1302_1312del (p.Asn434LysfsTer26) c.1599_1609del (p.Asn533LysfsTer26) c.1581_1591del (p.Asn527LysfsTer26) c.1290_1300del (p.Asn430LysfsTer26) c.1218_1228del (p.Asn406LysfsTer26) n.2084_2094del n.2023_2033del n.1977_1987del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244251del | CA531760992 | DNMT3A | c.74del c.901del (n.901del) c.1086del (p.Met362IlefsTer?) c.1755del (p.Met585IlefsTer?) c.1188del (p.Met396IlefsTer?) n.74del c.1311del (p.Met437IlefsTer?) c.1608del (p.Met536IlefsTer?) c.1590del (p.Met530IlefsTer?) c.1299del (p.Met433IlefsTer?) c.1227del (p.Met409IlefsTer?) n.2093del n.2032del n.1986del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244251C>A | CA346071848 | DNMT3A | c.74G>T c.901G>T (n.901G>T) c.1086G>T (p.Met362Ile) c.1755G>T (p.Met585Ile) c.1188G>T (p.Met396Ile) n.74G>T c.1311G>T (p.Met437Ile) c.1608G>T (p.Met536Ile) c.1590G>T (p.Met530Ile) c.1299G>T (p.Met433Ile) c.1227G>T (p.Met409Ile) n.2093G>T n.2032G>T n.1986G>T | |
2 | g.25244251C>G | CA346071849 | DNMT3A | c.74G>C c.901G>C (n.901G>C) c.1086G>C (p.Met362Ile) c.1755G>C (p.Met585Ile) c.1188G>C (p.Met396Ile) n.74G>C c.1311G>C (p.Met437Ile) c.1608G>C (p.Met536Ile) c.1590G>C (p.Met530Ile) c.1299G>C (p.Met433Ile) c.1227G>C (p.Met409Ile) n.2093G>C n.2032G>C n.1986G>C | |
2 | g.25244251C>T | CA346071847 | DNMT3A | c.74G>A c.901G>A (n.901G>A) c.1086G>A (p.Met362Ile) c.1755G>A (p.Met585Ile) c.1188G>A (p.Met396Ile) n.74G>A c.1311G>A (p.Met437Ile) c.1608G>A (p.Met536Ile) c.1590G>A (p.Met530Ile) c.1299G>A (p.Met433Ile) c.1227G>A (p.Met409Ile) n.2093G>A n.2032G>A n.1986G>A | |
2 | g.25244251dup | CA767176399 | DNMT3A | c.74dup c.901dup (n.901dup) c.1086dup (p.Cys363ValfsTer26) c.1755dup (p.Cys586ValfsTer26) c.1188dup (p.Cys397ValfsTer26) n.74dup c.1311dup (p.Cys438ValfsTer26) c.1608dup (p.Cys537ValfsTer26) c.1590dup (p.Cys531ValfsTer26) c.1299dup (p.Cys434ValfsTer26) c.1227dup (p.Cys410ValfsTer26) n.2093dup n.2032dup n.1986dup | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244252del | CA2658168635 | DNMT3A | c.73del c.900del (n.900del) c.1085del (p.Met362SerfsTer?) c.1754del (p.Met585SerfsTer?) c.1187del (p.Met396SerfsTer?) n.73del c.1310del (p.Met437SerfsTer?) c.1607del (p.Met536SerfsTer?) c.1589del (p.Met530SerfsTer?) c.1298del (p.Met433SerfsTer?) c.1226del (p.Met409SerfsTer?) n.2092del n.2031del n.1985del | gnomAD v4 |
2 | g.25244252A>C | CA346071850 | DNMT3A | c.73T>G c.900T>G (n.900T>G) c.1085T>G (p.Met362Arg) c.1754T>G (p.Met585Arg) c.1187T>G (p.Met396Arg) n.73T>G c.1310T>G (p.Met437Arg) c.1607T>G (p.Met536Arg) c.1589T>G (p.Met530Arg) c.1298T>G (p.Met433Arg) c.1226T>G (p.Met409Arg) n.2092T>G n.2031T>G n.1985T>G | |
2 | g.25244252A>G | CA346071851 | DNMT3A | c.73T>C c.900T>C (n.900T>C) c.1085T>C (p.Met362Thr) c.1754T>C (p.Met585Thr) c.1187T>C (p.Met396Thr) n.73T>C c.1310T>C (p.Met437Thr) c.1607T>C (p.Met536Thr) c.1589T>C (p.Met530Thr) c.1298T>C (p.Met433Thr) c.1226T>C (p.Met409Thr) n.2092T>C n.2031T>C n.1985T>C | |
2 | g.25244252A>T | CA346071852 | DNMT3A | c.73T>A c.900T>A (n.900T>A) c.1085T>A (p.Met362Lys) c.1754T>A (p.Met585Lys) c.1187T>A (p.Met396Lys) n.73T>A c.1310T>A (p.Met437Lys) c.1607T>A (p.Met536Lys) c.1589T>A (p.Met530Lys) c.1298T>A (p.Met433Lys) c.1226T>A (p.Met409Lys) n.2092T>A n.2031T>A n.1985T>A | |
2 | g.25244253del | CA2576694310 | DNMT3A | c.72del c.899del (n.899del) c.1084del (p.Met362CysfsTer?) c.1753del (p.Met585CysfsTer?) c.1186del (p.Met396CysfsTer?) n.72del c.1309del (p.Met437CysfsTer?) c.1606del (p.Met536CysfsTer?) c.1588del (p.Met530CysfsTer?) c.1297del (p.Met433CysfsTer?) c.1225del (p.Met409CysfsTer?) n.2091del n.2030del n.1984del | gnomAD v4 |
2 | g.25244253T>A | CA346071853 | DNMT3A | c.72A>T c.899A>T (n.899A>T) c.1084A>T (p.Met362Leu) c.1753A>T (p.Met585Leu) c.1186A>T (p.Met396Leu) n.72A>T c.1309A>T (p.Met437Leu) c.1606A>T (p.Met536Leu) c.1588A>T (p.Met530Leu) c.1297A>T (p.Met433Leu) c.1225A>T (p.Met409Leu) n.2091A>T n.2030A>T n.1984A>T | COSMIC COSMIC |
2 | g.25244253T>C | CA346071854 | DNMT3A | c.72A>G c.899A>G (n.899A>G) c.1084A>G (p.Met362Val) c.1753A>G (p.Met585Val) c.1186A>G (p.Met396Val) n.72A>G c.1309A>G (p.Met437Val) c.1606A>G (p.Met536Val) c.1588A>G (p.Met530Val) c.1297A>G (p.Met433Val) c.1225A>G (p.Met409Val) n.2091A>G n.2030A>G n.1984A>G | dbSNP |
2 | g.25244253T>G | CA346071855 | DNMT3A | c.72A>C c.899A>C (n.899A>C) c.1084A>C (p.Met362Leu) c.1753A>C (p.Met585Leu) c.1186A>C (p.Met396Leu) n.72A>C c.1309A>C (p.Met437Leu) c.1606A>C (p.Met536Leu) c.1588A>C (p.Met530Leu) c.1297A>C (p.Met433Leu) c.1225A>C (p.Met409Leu) n.2091A>C n.2030A>C n.1984A>C | COSMIC COSMIC |
2 | g.25244254_25244255del | CA2658168644 | DNMT3A | c.71_72del c.898_899del (n.898_899del) c.1083_1084del (p.Met362ValfsTer26) c.1752_1753del (p.Met585ValfsTer26) c.1185_1186del (p.Met396ValfsTer26) n.71_72del c.1308_1309del (p.Met437ValfsTer26) c.1605_1606del (p.Met536ValfsTer26) c.1587_1588del (p.Met530ValfsTer26) c.1296_1297del (p.Met433ValfsTer26) c.1224_1225del (p.Met409ValfsTer26) n.2090_2091del n.2029_2030del n.1983_1984del | gnomAD v4 |
2 | g.25244253_25244260delinsTGTAGCAG | CA1239262893 | DNMT3A | c.65_72delinsCTGCTACA c.892_899delinsCTGCTACA (n.892_899delinsCTGCTACA) c.1077_1084delinsCTGCTACA (p.Asn359=) c.1746_1753delinsCTGCTACA (p.Asn582=) c.1179_1186delinsCTGCTACA (p.Asn393=) n.65_72delinsCTGCTACA c.1302_1309delinsCTGCTACA (p.Asn434=) c.1599_1606delinsCTGCTACA (p.Asn533=) c.1581_1588delinsCTGCTACA (p.Asn527=) c.1290_1297delinsCTGCTACA (p.Asn430=) c.1218_1225delinsCTGCTACA (p.Asn406=) n.2084_2091delinsCTGCTACA n.2023_2030delinsCTGCTACA n.1977_1984delinsCTGCTACA | |
2 | g.25244254_25244261del | CA2576694311 | DNMT3A | c.65_72del c.892_899del (n.892_899del) c.1077_1084del (p.Cys360ValfsTer26) c.1746_1753del (p.Cys583ValfsTer26) c.1179_1186del (p.Cys394ValfsTer26) n.65_72del c.1302_1309del (p.Cys435ValfsTer26) c.1599_1606del (p.Cys534ValfsTer26) c.1581_1588del (p.Cys528ValfsTer26) c.1290_1297del (p.Cys431ValfsTer26) c.1218_1225del (p.Cys407ValfsTer26) n.2084_2091del n.2023_2030del n.1977_1984del | |
2 | g.25244254G>A | CA425182377 | DNMT3A | c.71C>T c.898C>T (n.898C>T) c.1083C>T (p.Tyr361=) c.1752C>T (p.Tyr584=) c.1185C>T (p.Tyr395=) n.71C>T c.1308C>T (p.Tyr436=) c.1605C>T (p.Tyr535=) c.1587C>T (p.Tyr529=) c.1296C>T (p.Tyr432=) c.1224C>T (p.Tyr408=) n.2090C>T n.2029C>T n.1983C>T | |
2 | g.25244254G>C | CA346071856 | DNMT3A | c.71C>G c.898C>G (n.898C>G) c.1083C>G (p.Tyr361Ter) c.1752C>G (p.Tyr584Ter) c.1185C>G (p.Tyr395Ter) n.71C>G c.1308C>G (p.Tyr436Ter) c.1605C>G (p.Tyr535Ter) c.1587C>G (p.Tyr529Ter) c.1296C>G (p.Tyr432Ter) c.1224C>G (p.Tyr408Ter) n.2090C>G n.2029C>G n.1983C>G | |
2 | g.25244254G>T | CA346071857 | DNMT3A | c.71C>A c.898C>A (n.898C>A) c.1083C>A (p.Tyr361Ter) c.1752C>A (p.Tyr584Ter) c.1185C>A (p.Tyr395Ter) n.71C>A c.1308C>A (p.Tyr436Ter) c.1605C>A (p.Tyr535Ter) c.1587C>A (p.Tyr529Ter) c.1296C>A (p.Tyr432Ter) c.1224C>A (p.Tyr408Ter) n.2090C>A n.2029C>A n.1983C>A | gnomAD v4 COSMIC COSMIC |
2 | g.25244254_25244260del | CA767176406 | DNMT3A | c.65_71del c.892_898del (n.892_898del) c.1077_1083del (p.Asn359LysfsTer?) c.1746_1752del (p.Asn582LysfsTer?) c.1179_1185del (p.Asn393LysfsTer?) n.65_71del c.1302_1308del (p.Asn434LysfsTer?) c.1599_1605del (p.Asn533LysfsTer?) c.1581_1587del (p.Asn527LysfsTer?) c.1290_1296del (p.Asn430LysfsTer?) c.1218_1224del (p.Asn406LysfsTer?) n.2084_2090del n.2023_2029del n.1977_1983del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244255del | CA2658168653 | DNMT3A | c.70del c.897del (n.897del) c.1082del (p.Tyr361SerfsTer?) c.1751del (p.Tyr584SerfsTer?) c.1184del (p.Tyr395SerfsTer?) n.70del c.1307del (p.Tyr436SerfsTer?) c.1604del (p.Tyr535SerfsTer?) c.1586del (p.Tyr529SerfsTer?) c.1295del (p.Tyr432SerfsTer?) c.1223del (p.Tyr408SerfsTer?) n.2089del n.2028del n.1982del | gnomAD v4 |
2 | g.25244255T>A | CA346071858 | DNMT3A | c.70A>T c.897A>T (n.897A>T) c.1082A>T (p.Tyr361Phe) c.1751A>T (p.Tyr584Phe) c.1184A>T (p.Tyr395Phe) n.70A>T c.1307A>T (p.Tyr436Phe) c.1604A>T (p.Tyr535Phe) c.1586A>T (p.Tyr529Phe) c.1295A>T (p.Tyr432Phe) c.1223A>T (p.Tyr408Phe) n.2089A>T n.2028A>T n.1982A>T | |
2 | g.25244255T>C | CA346071859 | DNMT3A | c.70A>G c.897A>G (n.897A>G) c.1082A>G (p.Tyr361Cys) c.1751A>G (p.Tyr584Cys) c.1184A>G (p.Tyr395Cys) n.70A>G c.1307A>G (p.Tyr436Cys) c.1604A>G (p.Tyr535Cys) c.1586A>G (p.Tyr529Cys) c.1295A>G (p.Tyr432Cys) c.1223A>G (p.Tyr408Cys) n.2089A>G n.2028A>G n.1982A>G | |
2 | g.25244255T>G | CA346071860 | DNMT3A | c.70A>C c.897A>C (n.897A>C) c.1082A>C (p.Tyr361Ser) c.1751A>C (p.Tyr584Ser) c.1184A>C (p.Tyr395Ser) n.70A>C c.1307A>C (p.Tyr436Ser) c.1604A>C (p.Tyr535Ser) c.1586A>C (p.Tyr529Ser) c.1295A>C (p.Tyr432Ser) c.1223A>C (p.Tyr408Ser) n.2089A>C n.2028A>C n.1982A>C | |
2 | g.25244255_25244256delinsTA | CA1239262897 | DNMT3A | c.69_70delinsTA c.896_897delinsTA (n.896_897delinsTA) c.1081_1082delinsTA (p.Tyr361=) c.1750_1751delinsTA (p.Tyr584=) c.1183_1184delinsTA (p.Tyr395=) n.69_70delinsTA c.1306_1307delinsTA (p.Tyr436=) c.1603_1604delinsTA (p.Tyr535=) c.1585_1586delinsTA (p.Tyr529=) c.1294_1295delinsTA (p.Tyr432=) c.1222_1223delinsTA (p.Tyr408=) n.2088_2089delinsTA n.2027_2028delinsTA n.1981_1982delinsTA | |
2 | g.25244256del | CA1555882 | DNMT3A | c.69del c.896del (n.896del) c.1081del (p.Tyr361ThrfsTer?) c.1750del (p.Tyr584ThrfsTer?) c.1183del (p.Tyr395ThrfsTer?) n.69del c.1306del (p.Tyr436ThrfsTer?) c.1603del (p.Tyr535ThrfsTer?) c.1585del (p.Tyr529ThrfsTer?) c.1294del (p.Tyr432ThrfsTer?) c.1222del (p.Tyr408ThrfsTer?) n.2088del n.2027del n.1981del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244256A= | CA1239262899 | DNMT3A | c.69T= c.896T= (n.896T=) c.1081T= (p.Tyr361=) c.1750T= (p.Tyr584=) c.1183T= (p.Tyr395=) n.69T= c.1306T= (p.Tyr436=) c.1603T= (p.Tyr535=) c.1585T= (p.Tyr529=) c.1294T= (p.Tyr432=) c.1222T= (p.Tyr408=) n.2088T= n.2027T= n.1981T= | |
2 | g.25244256A>C | CA346071861 | DNMT3A | c.69T>G c.896T>G (n.896T>G) c.1081T>G (p.Tyr361Asp) c.1750T>G (p.Tyr584Asp) c.1183T>G (p.Tyr395Asp) n.69T>G c.1306T>G (p.Tyr436Asp) c.1603T>G (p.Tyr535Asp) c.1585T>G (p.Tyr529Asp) c.1294T>G (p.Tyr432Asp) c.1222T>G (p.Tyr408Asp) n.2088T>G n.2027T>G n.1981T>G | |
2 | g.25244256A>G | CA346071862 | DNMT3A | c.69T>C c.896T>C (n.896T>C) c.1081T>C (p.Tyr361His) c.1750T>C (p.Tyr584His) c.1183T>C (p.Tyr395His) n.69T>C c.1306T>C (p.Tyr436His) c.1603T>C (p.Tyr535His) c.1585T>C (p.Tyr529His) c.1294T>C (p.Tyr432His) c.1222T>C (p.Tyr408His) n.2088T>C n.2027T>C n.1981T>C | gnomAD v4 |
2 | g.25244256A>T | CA1555883 | DNMT3A | c.69T>A c.896T>A (n.896T>A) c.1081T>A (p.Tyr361Asn) c.1750T>A (p.Tyr584Asn) c.1183T>A (p.Tyr395Asn) n.69T>A c.1306T>A (p.Tyr436Asn) c.1603T>A (p.Tyr535Asn) c.1585T>A (p.Tyr529Asn) c.1294T>A (p.Tyr432Asn) c.1222T>A (p.Tyr408Asn) n.2088T>A n.2027T>A n.1981T>A | dbSNP ExAC gnomAD v2 |
2 | g.25244257G>A | CA425182388 | DNMT3A | c.68C>T c.895C>T (n.895C>T) c.1080C>T (p.Cys360=) c.1749C>T (p.Cys583=) c.1182C>T (p.Cys394=) n.68C>T c.1305C>T (p.Cys435=) c.1602C>T (p.Cys534=) c.1584C>T (p.Cys528=) c.1293C>T (p.Cys431=) c.1221C>T (p.Cys407=) n.2087C>T n.2026C>T n.1980C>T | gnomAD v4 |
2 | g.25244257G>C | CA346071863 | DNMT3A | c.68C>G c.895C>G (n.895C>G) c.1080C>G (p.Cys360Trp) c.1749C>G (p.Cys583Trp) c.1182C>G (p.Cys394Trp) n.68C>G c.1305C>G (p.Cys435Trp) c.1602C>G (p.Cys534Trp) c.1584C>G (p.Cys528Trp) c.1293C>G (p.Cys431Trp) c.1221C>G (p.Cys407Trp) n.2087C>G n.2026C>G n.1980C>G | |
2 | g.25244257G>T | CA346071864 | DNMT3A | c.68C>A c.895C>A (n.895C>A) c.1080C>A (p.Cys360Ter) c.1749C>A (p.Cys583Ter) c.1182C>A (p.Cys394Ter) n.68C>A c.1305C>A (p.Cys435Ter) c.1602C>A (p.Cys534Ter) c.1584C>A (p.Cys528Ter) c.1293C>A (p.Cys431Ter) c.1221C>A (p.Cys407Ter) n.2087C>A n.2026C>A n.1980C>A | gnomAD v3 gnomAD v4 |
2 | g.25244257_25244263del | CA2658168662 | DNMT3A | c.62_68del c.889_895del (n.889_895del) c.1074_1080del (p.Trp358CysfsTer?) c.1743_1749del (p.Trp581CysfsTer?) c.1176_1182del (p.Trp392CysfsTer?) n.62_68del c.1299_1305del (p.Trp433CysfsTer?) c.1596_1602del (p.Trp532CysfsTer?) c.1578_1584del (p.Trp526CysfsTer?) c.1287_1293del (p.Trp429CysfsTer?) c.1215_1221del (p.Trp405CysfsTer?) n.2081_2087del n.2020_2026del n.1974_1980del | gnomAD v4 |
2 | g.25244258del | CA2576694314 | DNMT3A | c.67del c.894del (n.894del) c.1079del (p.Cys360SerfsTer?) c.1748del (p.Cys583SerfsTer?) c.1181del (p.Cys394SerfsTer?) n.67del c.1304del (p.Cys435SerfsTer?) c.1601del (p.Cys534SerfsTer?) c.1583del (p.Cys528SerfsTer?) c.1292del (p.Cys431SerfsTer?) c.1220del (p.Cys407SerfsTer?) n.2086del n.2025del n.1979del | |
2 | g.25244258C>A | CA346071865 | DNMT3A | c.67G>T c.894G>T (n.894G>T) c.1079G>T (p.Cys360Phe) c.1748G>T (p.Cys583Phe) c.1181G>T (p.Cys394Phe) n.67G>T c.1304G>T (p.Cys435Phe) c.1601G>T (p.Cys534Phe) c.1583G>T (p.Cys528Phe) c.1292G>T (p.Cys431Phe) c.1220G>T (p.Cys407Phe) n.2086G>T n.2025G>T n.1979G>T | |
2 | g.25244258C= | CA1239262905 | DNMT3A | c.67G= c.894G= (n.894G=) c.1079G= (p.Cys360=) c.1748G= (p.Cys583=) c.1181G= (p.Cys394=) n.67G= c.1304G= (p.Cys435=) c.1601G= (p.Cys534=) c.1583G= (p.Cys528=) c.1292G= (p.Cys431=) c.1220G= (p.Cys407=) n.2086G= n.2025G= n.1979G= | |
2 | g.25244258C>G | CA346071866 | DNMT3A | c.67G>C c.894G>C (n.894G>C) c.1079G>C (p.Cys360Ser) c.1748G>C (p.Cys583Ser) c.1181G>C (p.Cys394Ser) n.67G>C c.1304G>C (p.Cys435Ser) c.1601G>C (p.Cys534Ser) c.1583G>C (p.Cys528Ser) c.1292G>C (p.Cys431Ser) c.1220G>C (p.Cys407Ser) n.2086G>C n.2025G>C n.1979G>C | gnomAD v4 |
2 | g.25244258C>T | CA1555884 | DNMT3A | c.67G>A c.894G>A (n.894G>A) c.1079G>A (p.Cys360Tyr) c.1748G>A (p.Cys583Tyr) c.1181G>A (p.Cys394Tyr) n.67G>A c.1304G>A (p.Cys435Tyr) c.1601G>A (p.Cys534Tyr) c.1583G>A (p.Cys528Tyr) c.1292G>A (p.Cys431Tyr) c.1220G>A (p.Cys407Tyr) n.2086G>A n.2025G>A n.1979G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25244259A= | CA1239262909 | DNMT3A | c.66T= c.893T= (n.893T=) c.1078T= (p.Cys360=) c.1747T= (p.Cys583=) c.1180T= (p.Cys394=) n.66T= c.1303T= (p.Cys435=) c.1600T= (p.Cys534=) c.1582T= (p.Cys528=) c.1291T= (p.Cys431=) c.1219T= (p.Cys407=) n.2085T= n.2024T= n.1978T= | |
2 | g.25244259A>C | CA346071869 | DNMT3A | c.66T>G c.893T>G (n.893T>G) c.1078T>G (p.Cys360Gly) c.1747T>G (p.Cys583Gly) c.1180T>G (p.Cys394Gly) n.66T>G c.1303T>G (p.Cys435Gly) c.1600T>G (p.Cys534Gly) c.1582T>G (p.Cys528Gly) c.1291T>G (p.Cys431Gly) c.1219T>G (p.Cys407Gly) n.2085T>G n.2024T>G n.1978T>G | |
2 | g.25244259A>G | CA346071867 | DNMT3A | c.66T>C c.893T>C (n.893T>C) c.1078T>C (p.Cys360Arg) c.1747T>C (p.Cys583Arg) c.1180T>C (p.Cys394Arg) n.66T>C c.1303T>C (p.Cys435Arg) c.1600T>C (p.Cys534Arg) c.1582T>C (p.Cys528Arg) c.1291T>C (p.Cys431Arg) c.1219T>C (p.Cys407Arg) n.2085T>C n.2024T>C n.1978T>C | gnomAD v4 |
2 | g.25244259A>T | CA346071868 | DNMT3A | c.66T>A c.893T>A (n.893T>A) c.1078T>A (p.Cys360Ser) c.1747T>A (p.Cys583Ser) c.1180T>A (p.Cys394Ser) n.66T>A c.1303T>A (p.Cys435Ser) c.1600T>A (p.Cys534Ser) c.1582T>A (p.Cys528Ser) c.1291T>A (p.Cys431Ser) c.1219T>A (p.Cys407Ser) n.2085T>A n.2024T>A n.1978T>A | dbSNP gnomAD v4 |
2 | g.25244260G>A | CA425182398 | DNMT3A | c.65C>T c.892C>T (n.892C>T) c.1077C>T (p.Asn359=) c.1746C>T (p.Asn582=) c.1179C>T (p.Asn393=) n.65C>T c.1302C>T (p.Asn434=) c.1599C>T (p.Asn533=) c.1581C>T (p.Asn527=) c.1290C>T (p.Asn430=) c.1218C>T (p.Asn406=) n.2084C>T n.2023C>T n.1977C>T | dbSNP |
2 | g.25244260G>C | CA346071870 | DNMT3A | c.65C>G c.892C>G (n.892C>G) c.1077C>G (p.Asn359Lys) c.1746C>G (p.Asn582Lys) c.1179C>G (p.Asn393Lys) n.65C>G c.1302C>G (p.Asn434Lys) c.1599C>G (p.Asn533Lys) c.1581C>G (p.Asn527Lys) c.1290C>G (p.Asn430Lys) c.1218C>G (p.Asn406Lys) n.2084C>G n.2023C>G n.1977C>G | |
2 | g.25244260G>T | CA346071871 | DNMT3A | c.65C>A c.892C>A (n.892C>A) c.1077C>A (p.Asn359Lys) c.1746C>A (p.Asn582Lys) c.1179C>A (p.Asn393Lys) n.65C>A c.1302C>A (p.Asn434Lys) c.1599C>A (p.Asn533Lys) c.1581C>A (p.Asn527Lys) c.1290C>A (p.Asn430Lys) c.1218C>A (p.Asn406Lys) n.2084C>A n.2023C>A n.1977C>A | |
2 | g.25244262_25244270del | CA2658168683 | DNMT3A | c.57_65del c.884_892del (n.884_892del) c.1069_1077del (p.Pro357_Asn359del) c.1738_1746del (p.Pro580_Asn582del) c.1171_1179del (p.Pro391_Asn393del) n.57_65del c.1294_1302del (p.Pro432_Asn434del) c.1591_1599del (p.Pro531_Asn533del) c.1573_1581del (p.Pro525_Asn527del) c.1282_1290del (p.Pro428_Asn430del) c.1210_1218del (p.Pro404_Asn406del) n.2076_2084del n.2015_2023del n.1969_1977del | gnomAD v4 |
2 | g.25244261T>A | CA346071872 | DNMT3A | c.64A>T c.891A>T (n.891A>T) c.1076A>T (p.Asn359Ile) c.1745A>T (p.Asn582Ile) c.1178A>T (p.Asn393Ile) n.64A>T c.1301A>T (p.Asn434Ile) c.1598A>T (p.Asn533Ile) c.1580A>T (p.Asn527Ile) c.1289A>T (p.Asn430Ile) c.1217A>T (p.Asn406Ile) n.2083A>T n.2022A>T n.1976A>T | |
2 | g.25244261T>C | CA346071873 | DNMT3A | c.64A>G c.891A>G (n.891A>G) c.1076A>G (p.Asn359Ser) c.1745A>G (p.Asn582Ser) c.1178A>G (p.Asn393Ser) n.64A>G c.1301A>G (p.Asn434Ser) c.1598A>G (p.Asn533Ser) c.1580A>G (p.Asn527Ser) c.1289A>G (p.Asn430Ser) c.1217A>G (p.Asn406Ser) n.2083A>G n.2022A>G n.1976A>G | gnomAD v4 |
2 | g.25244261T>G | CA346071874 | DNMT3A | c.64A>C c.891A>C (n.891A>C) c.1076A>C (p.Asn359Thr) c.1745A>C (p.Asn582Thr) c.1178A>C (p.Asn393Thr) n.64A>C c.1301A>C (p.Asn434Thr) c.1598A>C (p.Asn533Thr) c.1580A>C (p.Asn527Thr) c.1289A>C (p.Asn430Thr) c.1217A>C (p.Asn406Thr) n.2083A>C n.2022A>C n.1976A>C | |
2 | g.25244262T>A | CA346071875 | DNMT3A | c.63A>T c.890A>T (n.890A>T) c.1075A>T (p.Asn359Tyr) c.1744A>T (p.Asn582Tyr) c.1177A>T (p.Asn393Tyr) n.63A>T c.1300A>T (p.Asn434Tyr) c.1597A>T (p.Asn533Tyr) c.1579A>T (p.Asn527Tyr) c.1288A>T (p.Asn430Tyr) c.1216A>T (p.Asn406Tyr) n.2082A>T n.2021A>T n.1975A>T | |
2 | g.25244262T>C | CA346071877 | DNMT3A | c.63A>G c.890A>G (n.890A>G) c.1075A>G (p.Asn359Asp) c.1744A>G (p.Asn582Asp) c.1177A>G (p.Asn393Asp) n.63A>G c.1300A>G (p.Asn434Asp) c.1597A>G (p.Asn533Asp) c.1579A>G (p.Asn527Asp) c.1288A>G (p.Asn430Asp) c.1216A>G (p.Asn406Asp) n.2082A>G n.2021A>G n.1975A>G | |
2 | g.25244262T>G | CA346071876 | DNMT3A | c.63A>C c.890A>C (n.890A>C) c.1075A>C (p.Asn359His) c.1744A>C (p.Asn582His) c.1177A>C (p.Asn393His) n.63A>C c.1300A>C (p.Asn434His) c.1597A>C (p.Asn533His) c.1579A>C (p.Asn527His) c.1288A>C (p.Asn430His) c.1216A>C (p.Asn406His) n.2082A>C n.2021A>C n.1975A>C | |
2 | g.25244263C>A | CA16604180 | DNMT3A | c.62G>T c.889G>T (n.889G>T) c.1074G>T (p.Trp358Cys) c.1743G>T (p.Trp581Cys) c.1176G>T (p.Trp392Cys) n.62G>T c.1299G>T (p.Trp433Cys) c.1596G>T (p.Trp532Cys) c.1578G>T (p.Trp526Cys) c.1287G>T (p.Trp429Cys) c.1215G>T (p.Trp405Cys) n.2081G>T n.2020G>T n.1974G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25244263C= | CA1239262912 | DNMT3A | c.62G= c.889G= (n.889G=) c.1074G= (p.Trp358=) c.1743G= (p.Trp581=) c.1176G= (p.Trp392=) n.62G= c.1299G= (p.Trp433=) c.1596G= (p.Trp532=) c.1578G= (p.Trp526=) c.1287G= (p.Trp429=) c.1215G= (p.Trp405=) n.2081G= n.2020G= n.1974G= | |
2 | g.25244263C>G | CA346071878 | DNMT3A | c.62G>C c.889G>C (n.889G>C) c.1074G>C (p.Trp358Cys) c.1743G>C (p.Trp581Cys) c.1176G>C (p.Trp392Cys) n.62G>C c.1299G>C (p.Trp433Cys) c.1596G>C (p.Trp532Cys) c.1578G>C (p.Trp526Cys) c.1287G>C (p.Trp429Cys) c.1215G>C (p.Trp405Cys) n.2081G>C n.2020G>C n.1974G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244263C>T | CA1555885 | DNMT3A | c.62G>A c.889G>A (n.889G>A) c.1074G>A (p.Trp358Ter) c.1743G>A (p.Trp581Ter) c.1176G>A (p.Trp392Ter) n.62G>A c.1299G>A (p.Trp433Ter) c.1596G>A (p.Trp532Ter) c.1578G>A (p.Trp526Ter) c.1287G>A (p.Trp429Ter) c.1215G>A (p.Trp405Ter) n.2081G>A n.2020G>A n.1974G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25244264del | CA2576694317 | DNMT3A | c.62del c.889del (n.889del) c.1074del (p.Trp358Ter) c.1743del (p.Trp581Ter) c.1176del (p.Trp392Ter) n.62del c.1299del (p.Trp433Ter) c.1596del (p.Trp532Ter) c.1578del (p.Trp526Ter) c.1287del (p.Trp429Ter) c.1215del (p.Trp405Ter) n.2081del n.2020del n.1974del | |
2 | g.25244263_25244268del | CA2658168695 | DNMT3A | c.57_62del c.884_889del (n.884_889del) c.1069_1074del (p.Pro357_Trp358del) c.1738_1743del (p.Pro580_Trp581del) c.1171_1176del (p.Pro391_Trp392del) n.57_62del c.1294_1299del (p.Pro432_Trp433del) c.1591_1596del (p.Pro531_Trp532del) c.1573_1578del (p.Pro525_Trp526del) c.1282_1287del (p.Pro428_Trp429del) c.1210_1215del (p.Pro404_Trp405del) n.2076_2081del n.2015_2020del n.1969_1974del | gnomAD v4 |
2 | g.25244264C>A | CA346071879 | DNMT3A | c.61G>T c.888G>T (n.888G>T) c.1073G>T (p.Trp358Leu) c.1742G>T (p.Trp581Leu) c.1175G>T (p.Trp392Leu) n.61G>T c.1298G>T (p.Trp433Leu) c.1595G>T (p.Trp532Leu) c.1577G>T (p.Trp526Leu) c.1286G>T (p.Trp429Leu) c.1214G>T (p.Trp405Leu) n.2080G>T n.2019G>T n.1973G>T | gnomAD v4 |
2 | g.25244264C= | CA1239262922 | DNMT3A | c.61G= c.888G= (n.888G=) c.1073G= (p.Trp358=) c.1742G= (p.Trp581=) c.1175G= (p.Trp392=) n.61G= c.1298G= (p.Trp433=) c.1595G= (p.Trp532=) c.1577G= (p.Trp526=) c.1286G= (p.Trp429=) c.1214G= (p.Trp405=) n.2080G= n.2019G= n.1973G= | |
2 | g.25244264C>G | CA346071880 | DNMT3A | c.61G>C c.888G>C (n.888G>C) c.1073G>C (p.Trp358Ser) c.1742G>C (p.Trp581Ser) c.1175G>C (p.Trp392Ser) n.61G>C c.1298G>C (p.Trp433Ser) c.1595G>C (p.Trp532Ser) c.1577G>C (p.Trp526Ser) c.1286G>C (p.Trp429Ser) c.1214G>C (p.Trp405Ser) n.2080G>C n.2019G>C n.1973G>C | gnomAD v4 |
2 | g.25244264C>T | CA43703376 | DNMT3A | c.61G>A c.888G>A (n.888G>A) c.1073G>A (p.Trp358Ter) c.1742G>A (p.Trp581Ter) c.1175G>A (p.Trp392Ter) n.61G>A c.1298G>A (p.Trp433Ter) c.1595G>A (p.Trp532Ter) c.1577G>A (p.Trp526Ter) c.1286G>A (p.Trp429Ter) c.1214G>A (p.Trp405Ter) n.2080G>A n.2019G>A n.1973G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244264_25244270delinsCAGGGGT | CA1239262924 | DNMT3A | c.55_61delinsACCCCTG c.882_888delinsACCCCTG (n.882_888delinsACCCCTG) c.1067_1073delinsACCCCTG (p.Asp356=) c.1736_1742delinsACCCCTG (p.Asp579=) c.1169_1175delinsACCCCTG (p.Asp390=) n.55_61delinsACCCCTG c.1292_1298delinsACCCCTG (p.Asp431=) c.1589_1595delinsACCCCTG (p.Asp530=) c.1571_1577delinsACCCCTG (p.Asp524=) c.1280_1286delinsACCCCTG (p.Asp427=) c.1208_1214delinsACCCCTG (p.Asp403=) n.2074_2080delinsACCCCTG n.2013_2019delinsACCCCTG n.1967_1973delinsACCCCTG | |
2 | g.25244265del | CA1028509778 | DNMT3A | c.60del c.887del (n.887del) c.1072del (p.Trp358GlyfsTer?) c.1741del (p.Trp581GlyfsTer?) c.1174del (p.Trp392GlyfsTer?) n.60del c.1297del (p.Trp433GlyfsTer?) c.1594del (p.Trp532GlyfsTer?) c.1576del (p.Trp526GlyfsTer?) c.1285del (p.Trp429GlyfsTer?) c.1213del (p.Trp405GlyfsTer?) n.2079del n.2018del n.1972del | gnomAD v3 gnomAD v4 |
2 | g.25244265A= | CA1239262930 | DNMT3A | c.60T= c.887T= (n.887T=) c.1072T= (p.Trp358=) c.1741T= (p.Trp581=) c.1174T= (p.Trp392=) n.60T= c.1297T= (p.Trp433=) c.1594T= (p.Trp532=) c.1576T= (p.Trp526=) c.1285T= (p.Trp429=) c.1213T= (p.Trp405=) n.2079T= n.2018T= n.1972T= | |
2 | g.25244265A>C | CA346071881 | DNMT3A | c.60T>G c.887T>G (n.887T>G) c.1072T>G (p.Trp358Gly) c.1741T>G (p.Trp581Gly) c.1174T>G (p.Trp392Gly) n.60T>G c.1297T>G (p.Trp433Gly) c.1594T>G (p.Trp532Gly) c.1576T>G (p.Trp526Gly) c.1285T>G (p.Trp429Gly) c.1213T>G (p.Trp405Gly) n.2079T>G n.2018T>G n.1972T>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.25244265A>G | CA346071882 | DNMT3A | c.60T>C c.887T>C (n.887T>C) c.1072T>C (p.Trp358Arg) c.1741T>C (p.Trp581Arg) c.1174T>C (p.Trp392Arg) n.60T>C c.1297T>C (p.Trp433Arg) c.1594T>C (p.Trp532Arg) c.1576T>C (p.Trp526Arg) c.1285T>C (p.Trp429Arg) c.1213T>C (p.Trp405Arg) n.2079T>C n.2018T>C n.1972T>C | dbSNP gnomAD v4 COSMIC |
2 | g.25244265A>T | CA346071883 | DNMT3A | c.60T>A c.887T>A (n.887T>A) c.1072T>A (p.Trp358Arg) c.1741T>A (p.Trp581Arg) c.1174T>A (p.Trp392Arg) n.60T>A c.1297T>A (p.Trp433Arg) c.1594T>A (p.Trp532Arg) c.1576T>A (p.Trp526Arg) c.1285T>A (p.Trp429Arg) c.1213T>A (p.Trp405Arg) n.2079T>A n.2018T>A n.1972T>A | gnomAD v4 COSMIC |
2 | g.25244265_25244266delinsAG | CA1239262929 | DNMT3A | c.59_60delinsCT c.886_887delinsCT (n.886_887delinsCT) c.1071_1072delinsCT (p.Pro357=) c.1740_1741delinsCT (p.Pro580=) c.1173_1174delinsCT (p.Pro391=) n.59_60delinsCT c.1296_1297delinsCT (p.Pro432=) c.1593_1594delinsCT (p.Pro531=) c.1575_1576delinsCT (p.Pro525=) c.1284_1285delinsCT (p.Pro428=) c.1212_1213delinsCT (p.Pro404=) n.2078_2079delinsCT n.2017_2018delinsCT n.1971_1972delinsCT | |
2 | g.25244265_25244270del | CA1555886 | DNMT3A | c.55_60del c.882_887del (n.882_887del) c.1067_1072del (p.Asp356_Trp358delinsGly) c.1736_1741del (p.Asp579_Trp581delinsGly) c.1169_1174del (p.Asp390_Trp392delinsGly) n.55_60del c.1292_1297del (p.Asp431_Trp433delinsGly) c.1589_1594del (p.Asp530_Trp532delinsGly) c.1571_1576del (p.Asp524_Trp526delinsGly) c.1280_1285del (p.Asp427_Trp429delinsGly) c.1208_1213del (p.Asp403_Trp405delinsGly) n.2074_2079del n.2013_2018del n.1967_1972del | dbSNP ExAC |
2 | g.25244265_25244285del | CA2576694322 | DNMT3A | c.40_60del c.867_887del (n.867_887del) c.1052_1072del (p.Ala351_Trp358delinsGly) c.1721_1741del (p.Ala574_Trp581delinsGly) c.1154_1174del (p.Ala385_Trp392delinsGly) n.40_60del c.1277_1297del (p.Ala426_Trp433delinsGly) c.1574_1594del (p.Ala525_Trp532delinsGly) c.1556_1576del (p.Ala519_Trp526delinsGly) c.1265_1285del (p.Ala422_Trp429delinsGly) c.1193_1213del (p.Ala398_Trp405delinsGly) n.2059_2079del n.1998_2018del n.1952_1972del | |
2 | g.25244266G>A | CA425182423 | DNMT3A | c.59C>T c.886C>T (n.886C>T) c.1071C>T (p.Pro357=) c.1740C>T (p.Pro580=) c.1173C>T (p.Pro391=) n.59C>T c.1296C>T (p.Pro432=) c.1593C>T (p.Pro531=) c.1575C>T (p.Pro525=) c.1284C>T (p.Pro428=) c.1212C>T (p.Pro404=) n.2078C>T n.2017C>T n.1971C>T | gnomAD v4 |
2 | g.25244266G>C | CA425182425 | DNMT3A | c.59C>G c.886C>G (n.886C>G) c.1071C>G (p.Pro357=) c.1740C>G (p.Pro580=) c.1173C>G (p.Pro391=) n.59C>G c.1296C>G (p.Pro432=) c.1593C>G (p.Pro531=) c.1575C>G (p.Pro525=) c.1284C>G (p.Pro428=) c.1212C>G (p.Pro404=) n.2078C>G n.2017C>G n.1971C>G | |
2 | g.25244266G>T | CA425182431 | DNMT3A | c.59C>A c.886C>A (n.886C>A) c.1071C>A (p.Pro357=) c.1740C>A (p.Pro580=) c.1173C>A (p.Pro391=) n.59C>A c.1296C>A (p.Pro432=) c.1593C>A (p.Pro531=) c.1575C>A (p.Pro525=) c.1284C>A (p.Pro428=) c.1212C>A (p.Pro404=) n.2078C>A n.2017C>A n.1971C>A | |
2 | g.25244269dup | CA645515200 | DNMT3A | c.59dup c.886dup (n.886dup) c.1071dup (p.Trp358LeufsTer?) c.1740dup (p.Trp581LeufsTer?) c.1173dup (p.Trp392LeufsTer?) n.59dup c.1296dup (p.Trp433LeufsTer?) c.1593dup (p.Trp532LeufsTer?) c.1575dup (p.Trp526LeufsTer?) c.1284dup (p.Trp429LeufsTer?) c.1212dup (p.Trp405LeufsTer?) n.2078dup n.2017dup n.1971dup | COSMIC |
2 | g.25244269del | CA1028509784 | DNMT3A | c.59del c.886del (n.886del) c.1071del (p.Trp358GlyfsTer?) c.1740del (p.Trp581GlyfsTer?) c.1173del (p.Trp392GlyfsTer?) n.59del c.1296del (p.Trp433GlyfsTer?) c.1593del (p.Trp532GlyfsTer?) c.1575del (p.Trp526GlyfsTer?) c.1284del (p.Trp429GlyfsTer?) c.1212del (p.Trp405GlyfsTer?) n.2078del n.2017del n.1971del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244267_25244269del | CA2658168741 | DNMT3A | c.57_59del c.884_886del (n.884_886del) c.1069_1071del (p.Pro357del) c.1738_1740del (p.Pro580del) c.1171_1173del (p.Pro391del) n.57_59del c.1294_1296del (p.Pro432del) c.1591_1593del (p.Pro531del) c.1573_1575del (p.Pro525del) c.1282_1284del (p.Pro428del) c.1210_1212del (p.Pro404del) n.2076_2078del n.2015_2017del n.1969_1971del | gnomAD v4 |
2 | g.25244267_25244282del | CA2658168744 | DNMT3A | c.44_59del c.871_886del (n.871_886del) c.1056_1071del (p.Ile353GlyfsTer?) c.1725_1740del (p.Ile576GlyfsTer?) c.1158_1173del (p.Ile387GlyfsTer?) n.44_59del c.1281_1296del (p.Ile428GlyfsTer?) c.1578_1593del (p.Ile527GlyfsTer?) c.1560_1575del (p.Ile521GlyfsTer?) c.1269_1284del (p.Ile424GlyfsTer?) c.1197_1212del (p.Ile400GlyfsTer?) n.2063_2078del n.2002_2017del n.1956_1971del | gnomAD v4 |
2 | g.25244266_25244267insC | CA425182440 | DNMT3A | c.58_59insG c.885_886insG (n.885_886insG) c.1070_1071insG (p.Trp358LeufsTer?) c.1739_1740insG (p.Trp581LeufsTer?) c.1172_1173insG (p.Trp392LeufsTer?) n.58_59insG c.1295_1296insG (p.Trp433LeufsTer?) c.1592_1593insG (p.Trp532LeufsTer?) c.1574_1575insG (p.Trp526LeufsTer?) c.1283_1284insG (p.Trp429LeufsTer?) c.1211_1212insG (p.Trp405LeufsTer?) n.2077_2078insG n.2016_2017insG n.1970_1971insG | |
2 | g.25244267G>A | CA346071884 | DNMT3A | c.58C>T c.885C>T (n.885C>T) c.1070C>T (p.Pro357Leu) c.1739C>T (p.Pro580Leu) c.1172C>T (p.Pro391Leu) n.58C>T c.1295C>T (p.Pro432Leu) c.1592C>T (p.Pro531Leu) c.1574C>T (p.Pro525Leu) c.1283C>T (p.Pro428Leu) c.1211C>T (p.Pro404Leu) n.2077C>T n.2016C>T n.1970C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244267G>C | CA1555887 | DNMT3A | c.58C>G c.885C>G (n.885C>G) c.1070C>G (p.Pro357Arg) c.1739C>G (p.Pro580Arg) c.1172C>G (p.Pro391Arg) n.58C>G c.1295C>G (p.Pro432Arg) c.1592C>G (p.Pro531Arg) c.1574C>G (p.Pro525Arg) c.1283C>G (p.Pro428Arg) c.1211C>G (p.Pro404Arg) n.2077C>G n.2016C>G n.1970C>G | dbSNP ExAC gnomAD v2 |
2 | g.25244267G= | CA1239262936 | DNMT3A | c.58C= c.885C= (n.885C=) c.1070C= (p.Pro357=) c.1739C= (p.Pro580=) c.1172C= (p.Pro391=) n.58C= c.1295C= (p.Pro432=) c.1592C= (p.Pro531=) c.1574C= (p.Pro525=) c.1283C= (p.Pro428=) c.1211C= (p.Pro404=) n.2077C= n.2016C= n.1970C= | |
2 | g.25244267G>T | CA346071885 | DNMT3A | c.58C>A c.885C>A (n.885C>A) c.1070C>A (p.Pro357His) c.1739C>A (p.Pro580His) c.1172C>A (p.Pro391His) n.58C>A c.1295C>A (p.Pro432His) c.1592C>A (p.Pro531His) c.1574C>A (p.Pro525His) c.1283C>A (p.Pro428His) c.1211C>A (p.Pro404His) n.2077C>A n.2016C>A n.1970C>A | dbSNP gnomAD v4 |
2 | g.25244268G>A | CA346071886 | DNMT3A | c.57C>T c.884C>T (n.884C>T) c.1069C>T (p.Pro357Ser) c.1738C>T (p.Pro580Ser) c.1171C>T (p.Pro391Ser) n.57C>T c.1294C>T (p.Pro432Ser) c.1591C>T (p.Pro531Ser) c.1573C>T (p.Pro525Ser) c.1282C>T (p.Pro428Ser) c.1210C>T (p.Pro404Ser) n.2076C>T n.2015C>T n.1969C>T | |
2 | g.25244268G>C | CA346071887 | DNMT3A | c.57C>G c.884C>G (n.884C>G) c.1069C>G (p.Pro357Ala) c.1738C>G (p.Pro580Ala) c.1171C>G (p.Pro391Ala) n.57C>G c.1294C>G (p.Pro432Ala) c.1591C>G (p.Pro531Ala) c.1573C>G (p.Pro525Ala) c.1282C>G (p.Pro428Ala) c.1210C>G (p.Pro404Ala) n.2076C>G n.2015C>G n.1969C>G | |
2 | g.25244268G>T | CA346071888 | DNMT3A | c.57C>A c.884C>A (n.884C>A) c.1069C>A (p.Pro357Thr) c.1738C>A (p.Pro580Thr) c.1171C>A (p.Pro391Thr) n.57C>A c.1294C>A (p.Pro432Thr) c.1591C>A (p.Pro531Thr) c.1573C>A (p.Pro525Thr) c.1282C>A (p.Pro428Thr) c.1210C>A (p.Pro404Thr) n.2076C>A n.2015C>A n.1969C>A | |
2 | g.25244272_25244316dup | CA1028509793 | DNMT3A | c.13_57dup c.840_884dup (n.840_884dup) c.1025_1069dup (p.Asp356_Pro357insLeuLeuValGlyProGlyAlaAlaGlnAlaAlaIleLysGluAsp) c.1694_1738dup (p.Asp579_Pro580insLeuLeuValGlyProGlyAlaAlaGlnAlaAlaIleLysGluAsp) c.1127_1171dup (p.Asp390_Pro391insLeuLeuValGlyProGlyAlaAlaGlnAlaAlaIleLysGluAsp) n.13_57dup c.1250_1294dup (p.Asp431_Pro432insLeuLeuValGlyProGlyAlaAlaGlnAlaAlaIleLysGluAsp) c.1547_1591dup (p.Asp530_Pro531insLeuLeuValGlyProGlyAlaAlaGlnAlaAlaIleLysGluAsp) c.1529_1573dup (p.Asp524_Pro525insLeuLeuValGlyProGlyAlaAlaGlnAlaAlaIleLysGluAsp) c.1238_1282dup (p.Asp427_Pro428insLeuLeuValGlyProGlyAlaAlaGlnAlaAlaIleLysGluAsp) c.1166_1210dup (p.Asp403_Pro404insLeuLeuValGlyProGlyAlaAlaGlnAlaAlaIleLysGluAsp) n.2032_2076dup n.1971_2015dup n.1925_1969dup | gnomAD v3 gnomAD v4 |
2 | g.25244269G>A | CA425182448 | DNMT3A | c.56C>T c.883C>T (n.883C>T) c.1068C>T (p.Asp356=) c.1737C>T (p.Asp579=) c.1170C>T (p.Asp390=) n.56C>T c.1293C>T (p.Asp431=) c.1590C>T (p.Asp530=) c.1572C>T (p.Asp524=) c.1281C>T (p.Asp427=) c.1209C>T (p.Asp403=) n.2075C>T n.2014C>T n.1968C>T | dbSNP |
2 | g.25244269G>C | CA346071889 | DNMT3A | c.56C>G c.883C>G (n.883C>G) c.1068C>G (p.Asp356Glu) c.1737C>G (p.Asp579Glu) c.1170C>G (p.Asp390Glu) n.56C>G c.1293C>G (p.Asp431Glu) c.1590C>G (p.Asp530Glu) c.1572C>G (p.Asp524Glu) c.1281C>G (p.Asp427Glu) c.1209C>G (p.Asp403Glu) n.2075C>G n.2014C>G n.1968C>G | |
2 | g.25244269G>T | CA346071890 | DNMT3A | c.56C>A c.883C>A (n.883C>A) c.1068C>A (p.Asp356Glu) c.1737C>A (p.Asp579Glu) c.1170C>A (p.Asp390Glu) n.56C>A c.1293C>A (p.Asp431Glu) c.1590C>A (p.Asp530Glu) c.1572C>A (p.Asp524Glu) c.1281C>A (p.Asp427Glu) c.1209C>A (p.Asp403Glu) n.2075C>A n.2014C>A n.1968C>A | |
2 | g.25244269_25244279del | CA2658168750 | DNMT3A | c.46_56del c.873_883del (n.873_883del) c.1058_1068del (p.Ile353ThrfsTer?) c.1727_1737del (p.Ile576ThrfsTer?) c.1160_1170del (p.Ile387ThrfsTer?) n.46_56del c.1283_1293del (p.Ile428ThrfsTer?) c.1580_1590del (p.Ile527ThrfsTer?) c.1562_1572del (p.Ile521ThrfsTer?) c.1271_1281del (p.Ile424ThrfsTer?) c.1199_1209del (p.Ile400ThrfsTer?) n.2065_2075del n.2004_2014del n.1958_1968del | gnomAD v4 |
2 | g.25244270del | CA645515201 | DNMT3A | c.55del c.882del (n.882del) c.1067del (p.Asp356AlafsTer?) c.1736del (p.Asp579AlafsTer?) c.1169del (p.Asp390AlafsTer?) n.55del c.1292del (p.Asp431AlafsTer?) c.1589del (p.Asp530AlafsTer?) c.1571del (p.Asp524AlafsTer?) c.1280del (p.Asp427AlafsTer?) c.1208del (p.Asp403AlafsTer?) n.2074del n.2013del n.1967del | COSMIC COSMIC |
2 | g.25244270T>A | CA346071891 | DNMT3A | c.55A>T c.882A>T (n.882A>T) c.1067A>T (p.Asp356Val) c.1736A>T (p.Asp579Val) c.1169A>T (p.Asp390Val) n.55A>T c.1292A>T (p.Asp431Val) c.1589A>T (p.Asp530Val) c.1571A>T (p.Asp524Val) c.1280A>T (p.Asp427Val) c.1208A>T (p.Asp403Val) n.2074A>T n.2013A>T n.1967A>T | |
2 | g.25244270T>C | CA346071892 | DNMT3A | c.55A>G c.882A>G (n.882A>G) c.1067A>G (p.Asp356Gly) c.1736A>G (p.Asp579Gly) c.1169A>G (p.Asp390Gly) n.55A>G c.1292A>G (p.Asp431Gly) c.1589A>G (p.Asp530Gly) c.1571A>G (p.Asp524Gly) c.1280A>G (p.Asp427Gly) c.1208A>G (p.Asp403Gly) n.2074A>G n.2013A>G n.1967A>G | |
2 | g.25244270T>G | CA346071893 | DNMT3A | c.55A>C c.882A>C (n.882A>C) c.1067A>C (p.Asp356Ala) c.1736A>C (p.Asp579Ala) c.1169A>C (p.Asp390Ala) n.55A>C c.1292A>C (p.Asp431Ala) c.1589A>C (p.Asp530Ala) c.1571A>C (p.Asp524Ala) c.1280A>C (p.Asp427Ala) c.1208A>C (p.Asp403Ala) n.2074A>C n.2013A>C n.1967A>C | |
2 | g.25244270dup | CA2658168753 | DNMT3A | c.55dup c.882dup (n.882dup) c.1067dup (p.Asp356GlufsTer?) c.1736dup (p.Asp579GlufsTer?) c.1169dup (p.Asp390GlufsTer?) n.55dup c.1292dup (p.Asp431GlufsTer?) c.1589dup (p.Asp530GlufsTer?) c.1571dup (p.Asp524GlufsTer?) c.1280dup (p.Asp427GlufsTer?) c.1208dup (p.Asp403GlufsTer?) n.2074dup n.2013dup n.1967dup | gnomAD v4 |
2 | g.25244271C>A | CA346071894 | DNMT3A | c.54G>T c.881G>T (n.881G>T) c.1066G>T (p.Asp356Tyr) c.1735G>T (p.Asp579Tyr) c.1168G>T (p.Asp390Tyr) n.54G>T c.1291G>T (p.Asp431Tyr) c.1588G>T (p.Asp530Tyr) c.1570G>T (p.Asp524Tyr) c.1279G>T (p.Asp427Tyr) c.1207G>T (p.Asp403Tyr) n.2073G>T n.2012G>T n.1966G>T | |
2 | g.25244271C= | CA1239262939 | DNMT3A | c.54G= c.881G= (n.881G=) c.1066G= (p.Asp356=) c.1735G= (p.Asp579=) c.1168G= (p.Asp390=) n.54G= c.1291G= (p.Asp431=) c.1588G= (p.Asp530=) c.1570G= (p.Asp524=) c.1279G= (p.Asp427=) c.1207G= (p.Asp403=) n.2073G= n.2012G= n.1966G= | |
2 | g.25244271C>G | CA346071895 | DNMT3A | c.54G>C c.881G>C (n.881G>C) c.1066G>C (p.Asp356His) c.1735G>C (p.Asp579His) c.1168G>C (p.Asp390His) n.54G>C c.1291G>C (p.Asp431His) c.1588G>C (p.Asp530His) c.1570G>C (p.Asp524His) c.1279G>C (p.Asp427His) c.1207G>C (p.Asp403His) n.2073G>C n.2012G>C n.1966G>C | |
2 | g.25244271C>T | CA346071896 | DNMT3A | c.54G>A c.881G>A (n.881G>A) c.1066G>A (p.Asp356Asn) c.1735G>A (p.Asp579Asn) c.1168G>A (p.Asp390Asn) n.54G>A c.1291G>A (p.Asp431Asn) c.1588G>A (p.Asp530Asn) c.1570G>A (p.Asp524Asn) c.1279G>A (p.Asp427Asn) c.1207G>A (p.Asp403Asn) n.2073G>A n.2012G>A n.1966G>A | |
2 | g.25244274_25244277del | CA2576694324 | DNMT3A | c.51_54del c.878_881del (n.878_881del) c.1063_1066del (p.Glu355ThrfsTer?) c.1732_1735del (p.Glu578ThrfsTer?) c.1165_1168del (p.Glu389ThrfsTer?) n.51_54del c.1288_1291del (p.Glu430ThrfsTer?) c.1585_1588del (p.Glu529ThrfsTer?) c.1567_1570del (p.Glu523ThrfsTer?) c.1276_1279del (p.Glu426ThrfsTer?) c.1204_1207del (p.Glu402ThrfsTer?) n.2070_2073del n.2009_2012del n.1963_1966del | gnomAD v4 |
2 | g.25244273_25244288del | CA2658168758 | DNMT3A | c.39_54del c.866_881del (n.866_881del) c.1051_1066del (p.Ala351ThrfsTer?) c.1720_1735del (p.Ala574ThrfsTer?) c.1153_1168del (p.Ala385ThrfsTer?) n.39_54del c.1276_1291del (p.Ala426ThrfsTer?) c.1573_1588del (p.Ala525ThrfsTer?) c.1555_1570del (p.Ala519ThrfsTer?) c.1264_1279del (p.Ala422ThrfsTer?) c.1192_1207del (p.Ala398ThrfsTer?) n.2058_2073del n.1997_2012del n.1951_1966del | gnomAD v4 |
2 | g.25244272T>A | CA346071897 | DNMT3A | c.53A>T c.880A>T (n.880A>T) c.1065A>T (p.Glu355Asp) c.1734A>T (p.Glu578Asp) c.1167A>T (p.Glu389Asp) n.53A>T c.1290A>T (p.Glu430Asp) c.1587A>T (p.Glu529Asp) c.1569A>T (p.Glu523Asp) c.1278A>T (p.Glu426Asp) c.1206A>T (p.Glu402Asp) n.2072A>T n.2011A>T n.1965A>T | |
2 | g.25244272T>C | CA425182462 | DNMT3A | c.53A>G c.880A>G (n.880A>G) c.1065A>G (p.Glu355=) c.1734A>G (p.Glu578=) c.1167A>G (p.Glu389=) n.53A>G c.1290A>G (p.Glu430=) c.1587A>G (p.Glu529=) c.1569A>G (p.Glu523=) c.1278A>G (p.Glu426=) c.1206A>G (p.Glu402=) n.2072A>G n.2011A>G n.1965A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244272T>G | CA346071898 | DNMT3A | c.53A>C c.880A>C (n.880A>C) c.1065A>C (p.Glu355Asp) c.1734A>C (p.Glu578Asp) c.1167A>C (p.Glu389Asp) n.53A>C c.1290A>C (p.Glu430Asp) c.1587A>C (p.Glu529Asp) c.1569A>C (p.Glu523Asp) c.1278A>C (p.Glu426Asp) c.1206A>C (p.Glu402Asp) n.2072A>C n.2011A>C n.1965A>C | |
2 | g.25244272T= | CA1239262940 | DNMT3A | c.53A= c.880A= (n.880A=) c.1065A= (p.Glu355=) c.1734A= (p.Glu578=) c.1167A= (p.Glu389=) n.53A= c.1290A= (p.Glu430=) c.1587A= (p.Glu529=) c.1569A= (p.Glu523=) c.1278A= (p.Glu426=) c.1206A= (p.Glu402=) n.2072A= n.2011A= n.1965A= | |
2 | g.25244273del | CA2658168766 | DNMT3A | c.53del c.880del (n.880del) c.1065del (p.Asp356ThrfsTer?) c.1734del (p.Asp579ThrfsTer?) c.1167del (p.Asp390ThrfsTer?) n.53del c.1290del (p.Asp431ThrfsTer?) c.1587del (p.Asp530ThrfsTer?) c.1569del (p.Asp524ThrfsTer?) c.1278del (p.Asp427ThrfsTer?) c.1206del (p.Asp403ThrfsTer?) n.2072del n.2011del n.1965del | gnomAD v4 |
2 | g.25244273_25244277dup | CA531760993 | DNMT3A | c.49_53dup c.876_880dup (n.876_880dup) c.1061_1065dup (p.Asp356ArgfsTer?) c.1730_1734dup (p.Asp579ArgfsTer?) c.1163_1167dup (p.Asp390ArgfsTer?) n.49_53dup c.1286_1290dup (p.Asp431ArgfsTer?) c.1583_1587dup (p.Asp530ArgfsTer?) c.1565_1569dup (p.Asp524ArgfsTer?) c.1274_1278dup (p.Asp427ArgfsTer?) c.1202_1206dup (p.Asp403ArgfsTer?) n.2068_2072dup n.2007_2011dup n.1961_1965dup | dbSNP gnomAD v2 |
2 | g.25244273T>A | CA346071899 | DNMT3A | c.52A>T c.879A>T (n.879A>T) c.1064A>T (p.Glu355Val) c.1733A>T (p.Glu578Val) c.1166A>T (p.Glu389Val) n.52A>T c.1289A>T (p.Glu430Val) c.1586A>T (p.Glu529Val) c.1568A>T (p.Glu523Val) c.1277A>T (p.Glu426Val) c.1205A>T (p.Glu402Val) n.2071A>T n.2010A>T n.1964A>T | |
2 | g.25244273T>C | CA346071900 | DNMT3A | c.52A>G c.879A>G (n.879A>G) c.1064A>G (p.Glu355Gly) c.1733A>G (p.Glu578Gly) c.1166A>G (p.Glu389Gly) n.52A>G c.1289A>G (p.Glu430Gly) c.1586A>G (p.Glu529Gly) c.1568A>G (p.Glu523Gly) c.1277A>G (p.Glu426Gly) c.1205A>G (p.Glu402Gly) n.2071A>G n.2010A>G n.1964A>G | |
2 | g.25244273T>G | CA346071901 | DNMT3A | c.52A>C c.879A>C (n.879A>C) c.1064A>C (p.Glu355Ala) c.1733A>C (p.Glu578Ala) c.1166A>C (p.Glu389Ala) n.52A>C c.1289A>C (p.Glu430Ala) c.1586A>C (p.Glu529Ala) c.1568A>C (p.Glu523Ala) c.1277A>C (p.Glu426Ala) c.1205A>C (p.Glu402Ala) n.2071A>C n.2010A>C n.1964A>C | |
2 | g.25244274_25244276del | CA2576694325 | DNMT3A | c.50_52del c.877_879del (n.877_879del) c.1062_1064del (p.Glu355del) c.1731_1733del (p.Glu578del) c.1164_1166del (p.Glu389del) n.50_52del c.1287_1289del (p.Glu430del) c.1584_1586del (p.Glu529del) c.1566_1568del (p.Glu523del) c.1275_1277del (p.Glu426del) c.1203_1205del (p.Glu402del) n.2069_2071del n.2008_2010del n.1962_1964del | |
2 | g.25244273_25244295del | CA1028509799 | DNMT3A | c.30_52del c.857_879del (n.857_879del) c.1042_1064del (p.Ala348ArgfsTer?) c.1711_1733del (p.Ala571ArgfsTer?) c.1144_1166del (p.Ala382ArgfsTer?) n.30_52del c.1267_1289del (p.Ala423ArgfsTer?) c.1564_1586del (p.Ala522ArgfsTer?) c.1546_1568del (p.Ala516ArgfsTer?) c.1255_1277del (p.Ala419ArgfsTer?) c.1183_1205del (p.Ala395ArgfsTer?) n.2049_2071del n.1988_2010del n.1942_1964del | gnomAD v3 gnomAD v4 |
2 | g.25244274C>A | CA346071904 | DNMT3A | c.51G>T c.878G>T (n.878G>T) c.1063G>T (p.Glu355Ter) c.1732G>T (p.Glu578Ter) c.1165G>T (p.Glu389Ter) n.51G>T c.1288G>T (p.Glu430Ter) c.1585G>T (p.Glu529Ter) c.1567G>T (p.Glu523Ter) c.1276G>T (p.Glu426Ter) c.1204G>T (p.Glu402Ter) n.2070G>T n.2009G>T n.1963G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244274C= | CA1239262945 | DNMT3A | c.51G= c.878G= (n.878G=) c.1063G= (p.Glu355=) c.1732G= (p.Glu578=) c.1165G= (p.Glu389=) n.51G= c.1288G= (p.Glu430=) c.1585G= (p.Glu529=) c.1567G= (p.Glu523=) c.1276G= (p.Glu426=) c.1204G= (p.Glu402=) n.2070G= n.2009G= n.1963G= | |
2 | g.25244274C>G | CA346071903 | DNMT3A | c.51G>C c.878G>C (n.878G>C) c.1063G>C (p.Glu355Gln) c.1732G>C (p.Glu578Gln) c.1165G>C (p.Glu389Gln) n.51G>C c.1288G>C (p.Glu430Gln) c.1585G>C (p.Glu529Gln) c.1567G>C (p.Glu523Gln) c.1276G>C (p.Glu426Gln) c.1204G>C (p.Glu402Gln) n.2070G>C n.2009G>C n.1963G>C | dbSNP gnomAD v4 |
2 | g.25244274C>T | CA346071902 | DNMT3A | c.51G>A c.878G>A (n.878G>A) c.1063G>A (p.Glu355Lys) c.1732G>A (p.Glu578Lys) c.1165G>A (p.Glu389Lys) n.51G>A c.1288G>A (p.Glu430Lys) c.1585G>A (p.Glu529Lys) c.1567G>A (p.Glu523Lys) c.1276G>A (p.Glu426Lys) c.1204G>A (p.Glu402Lys) n.2070G>A n.2009G>A n.1963G>A | |
2 | g.25244275dup | CA2576694328 | DNMT3A | c.51dup c.878dup (n.878dup) c.1063dup (p.Glu355GlyfsTer?) c.1732dup (p.Glu578GlyfsTer?) c.1165dup (p.Glu389GlyfsTer?) n.51dup c.1288dup (p.Glu430GlyfsTer?) c.1585dup (p.Glu529GlyfsTer?) c.1567dup (p.Glu523GlyfsTer?) c.1276dup (p.Glu426GlyfsTer?) c.1204dup (p.Glu402GlyfsTer?) n.2070dup n.2009dup n.1963dup | |
2 | g.25244275del | CA2576694327 | DNMT3A | c.51del c.878del (n.878del) c.1063del (p.Glu355LysfsTer?) c.1732del (p.Glu578LysfsTer?) c.1165del (p.Glu389LysfsTer?) n.51del c.1288del (p.Glu430LysfsTer?) c.1585del (p.Glu529LysfsTer?) c.1567del (p.Glu523LysfsTer?) c.1276del (p.Glu426LysfsTer?) c.1204del (p.Glu402LysfsTer?) n.2070del n.2009del n.1963del | gnomAD v4 |
2 | g.25244277_25244288del | CA2658168773 | DNMT3A | c.40_51del c.867_878del (n.867_878del) c.1052_1063del (p.Ala351_Lys354del) c.1721_1732del (p.Ala574_Lys577del) c.1154_1165del (p.Ala385_Lys388del) n.40_51del c.1277_1288del (p.Ala426_Lys429del) c.1574_1585del (p.Ala525_Lys528del) c.1556_1567del (p.Ala519_Lys522del) c.1265_1276del (p.Ala422_Lys425del) c.1193_1204del (p.Ala398_Lys401del) n.2059_2070del n.1998_2009del n.1952_1963del | gnomAD v4 |
2 | g.25244275C>A | CA346071905 | DNMT3A | c.50G>T c.877G>T (n.877G>T) c.1062G>T (p.Lys354Asn) c.1731G>T (p.Lys577Asn) c.1164G>T (p.Lys388Asn) n.50G>T c.1287G>T (p.Lys429Asn) c.1584G>T (p.Lys528Asn) c.1566G>T (p.Lys522Asn) c.1275G>T (p.Lys425Asn) c.1203G>T (p.Lys401Asn) n.2069G>T n.2008G>T n.1962G>T | |
2 | g.25244275C>G | CA346071906 | DNMT3A | c.50G>C c.877G>C (n.877G>C) c.1062G>C (p.Lys354Asn) c.1731G>C (p.Lys577Asn) c.1164G>C (p.Lys388Asn) n.50G>C c.1287G>C (p.Lys429Asn) c.1584G>C (p.Lys528Asn) c.1566G>C (p.Lys522Asn) c.1275G>C (p.Lys425Asn) c.1203G>C (p.Lys401Asn) n.2069G>C n.2008G>C n.1962G>C | |
2 | g.25244275C>T | CA425182484 | DNMT3A | c.50G>A c.877G>A (n.877G>A) c.1062G>A (p.Lys354=) c.1731G>A (p.Lys577=) c.1164G>A (p.Lys388=) n.50G>A c.1287G>A (p.Lys429=) c.1584G>A (p.Lys528=) c.1566G>A (p.Lys522=) c.1275G>A (p.Lys425=) c.1203G>A (p.Lys401=) n.2069G>A n.2008G>A n.1962G>A | gnomAD v4 |
2 | g.25244275_25244276delinsCT | CA1239262947 | DNMT3A | c.49_50delinsAG c.876_877delinsAG (n.876_877delinsAG) c.1061_1062delinsAG (p.Lys354=) c.1730_1731delinsAG (p.Lys577=) c.1163_1164delinsAG (p.Lys388=) n.49_50delinsAG c.1286_1287delinsAG (p.Lys429=) c.1583_1584delinsAG (p.Lys528=) c.1565_1566delinsAG (p.Lys522=) c.1274_1275delinsAG (p.Lys425=) c.1202_1203delinsAG (p.Lys401=) n.2068_2069delinsAG n.2007_2008delinsAG n.1961_1962delinsAG | |
2 | g.25244276T>A | CA346071907 | DNMT3A | c.49A>T c.876A>T (n.876A>T) c.1061A>T (p.Lys354Met) c.1730A>T (p.Lys577Met) c.1163A>T (p.Lys388Met) n.49A>T c.1286A>T (p.Lys429Met) c.1583A>T (p.Lys528Met) c.1565A>T (p.Lys522Met) c.1274A>T (p.Lys425Met) c.1202A>T (p.Lys401Met) n.2068A>T n.2007A>T n.1961A>T | |
2 | g.25244276T>C | CA346071908 | DNMT3A | c.49A>G c.876A>G (n.876A>G) c.1061A>G (p.Lys354Arg) c.1730A>G (p.Lys577Arg) c.1163A>G (p.Lys388Arg) n.49A>G c.1286A>G (p.Lys429Arg) c.1583A>G (p.Lys528Arg) c.1565A>G (p.Lys522Arg) c.1274A>G (p.Lys425Arg) c.1202A>G (p.Lys401Arg) n.2068A>G n.2007A>G n.1961A>G | |
2 | g.25244276T>G | CA346071909 | DNMT3A | c.49A>C c.876A>C (n.876A>C) c.1061A>C (p.Lys354Thr) c.1730A>C (p.Lys577Thr) c.1163A>C (p.Lys388Thr) n.49A>C c.1286A>C (p.Lys429Thr) c.1583A>C (p.Lys528Thr) c.1565A>C (p.Lys522Thr) c.1274A>C (p.Lys425Thr) c.1202A>C (p.Lys401Thr) n.2068A>C n.2007A>C n.1961A>C | |
2 | g.25244276_25244277del | CA2658168785 | DNMT3A | c.48_49del c.875_876del (n.875_876del) c.1060_1061del (p.Lys354GlyfsTer?) c.1729_1730del (p.Lys577GlyfsTer?) c.1162_1163del (p.Lys388GlyfsTer?) n.48_49del c.1285_1286del (p.Lys429GlyfsTer?) c.1582_1583del (p.Lys528GlyfsTer?) c.1564_1565del (p.Lys522GlyfsTer?) c.1273_1274del (p.Lys425GlyfsTer?) c.1201_1202del (p.Lys401GlyfsTer?) n.2067_2068del n.2006_2007del n.1960_1961del | gnomAD v4 |
2 | g.25244277del | CA1555888 | DNMT3A | c.49del c.876del (n.876del) c.1061del (p.Lys354ArgfsTer?) c.1730del (p.Lys577ArgfsTer?) c.1163del (p.Lys388ArgfsTer?) n.49del c.1286del (p.Lys429ArgfsTer?) c.1583del (p.Lys528ArgfsTer?) c.1565del (p.Lys522ArgfsTer?) c.1274del (p.Lys425ArgfsTer?) c.1202del (p.Lys401ArgfsTer?) n.2068del n.2007del n.1961del | dbSNP ExAC gnomAD v2 |
2 | g.25244277_25244280del | CA2576694330 | DNMT3A | c.46_49del c.873_876del (n.873_876del) c.1058_1061del (p.Ile353ArgfsTer?) c.1727_1730del (p.Ile576ArgfsTer?) c.1160_1163del (p.Ile387ArgfsTer?) n.46_49del c.1283_1286del (p.Ile428ArgfsTer?) c.1580_1583del (p.Ile527ArgfsTer?) c.1562_1565del (p.Ile521ArgfsTer?) c.1271_1274del (p.Ile424ArgfsTer?) c.1199_1202del (p.Ile400ArgfsTer?) n.2065_2068del n.2004_2007del n.1958_1961del | |
2 | g.25244277T>A | CA346071910 | DNMT3A | c.48A>T c.875A>T (n.875A>T) c.1060A>T (p.Lys354Ter) c.1729A>T (p.Lys577Ter) c.1162A>T (p.Lys388Ter) n.48A>T c.1285A>T (p.Lys429Ter) c.1582A>T (p.Lys528Ter) c.1564A>T (p.Lys522Ter) c.1273A>T (p.Lys425Ter) c.1201A>T (p.Lys401Ter) n.2067A>T n.2006A>T n.1960A>T | gnomAD v4 COSMIC |
2 | g.25244277T>C | CA346071911 | DNMT3A | c.48A>G c.875A>G (n.875A>G) c.1060A>G (p.Lys354Glu) c.1729A>G (p.Lys577Glu) c.1162A>G (p.Lys388Glu) n.48A>G c.1285A>G (p.Lys429Glu) c.1582A>G (p.Lys528Glu) c.1564A>G (p.Lys522Glu) c.1273A>G (p.Lys425Glu) c.1201A>G (p.Lys401Glu) n.2067A>G n.2006A>G n.1960A>G | |
2 | g.25244277T>G | CA346071912 | DNMT3A | c.48A>C c.875A>C (n.875A>C) c.1060A>C (p.Lys354Gln) c.1729A>C (p.Lys577Gln) c.1162A>C (p.Lys388Gln) n.48A>C c.1285A>C (p.Lys429Gln) c.1582A>C (p.Lys528Gln) c.1564A>C (p.Lys522Gln) c.1273A>C (p.Lys425Gln) c.1201A>C (p.Lys401Gln) n.2067A>C n.2006A>C n.1960A>C | |
2 | g.25244277_25244296del | CA2658168794 | DNMT3A | c.29_48del c.856_875del (n.856_875del) c.1041_1060del (p.Ala348GlyfsTer?) c.1710_1729del (p.Ala571GlyfsTer?) c.1143_1162del (p.Ala382GlyfsTer?) n.29_48del c.1266_1285del (p.Ala423GlyfsTer?) c.1563_1582del (p.Ala522GlyfsTer?) c.1545_1564del (p.Ala516GlyfsTer?) c.1254_1273del (p.Ala419GlyfsTer?) c.1182_1201del (p.Ala395GlyfsTer?) n.2048_2067del n.1987_2006del n.1941_1960del | gnomAD v4 |
2 | g.25244278A>C | CA346071913 | DNMT3A | c.47T>G c.874T>G (n.874T>G) c.1059T>G (p.Ile353Met) c.1728T>G (p.Ile576Met) c.1161T>G (p.Ile387Met) n.47T>G c.1284T>G (p.Ile428Met) c.1581T>G (p.Ile527Met) c.1563T>G (p.Ile521Met) c.1272T>G (p.Ile424Met) c.1200T>G (p.Ile400Met) n.2066T>G n.2005T>G n.1959T>G | |
2 | g.25244278A>G | CA425182506 | DNMT3A | c.47T>C c.874T>C (n.874T>C) c.1059T>C (p.Ile353=) c.1728T>C (p.Ile576=) c.1161T>C (p.Ile387=) n.47T>C c.1284T>C (p.Ile428=) c.1581T>C (p.Ile527=) c.1563T>C (p.Ile521=) c.1272T>C (p.Ile424=) c.1200T>C (p.Ile400=) n.2066T>C n.2005T>C n.1959T>C | |
2 | g.25244278A>T | CA425182508 | DNMT3A | c.47T>A c.874T>A (n.874T>A) c.1059T>A (p.Ile353=) c.1728T>A (p.Ile576=) c.1161T>A (p.Ile387=) n.47T>A c.1284T>A (p.Ile428=) c.1581T>A (p.Ile527=) c.1563T>A (p.Ile521=) c.1272T>A (p.Ile424=) c.1200T>A (p.Ile400=) n.2066T>A n.2005T>A n.1959T>A | |
2 | g.25244278_25244279del | CA2658168798 | DNMT3A | c.46_47del c.873_874del (n.873_874del) c.1058_1059del (p.Ile353LysfsTer?) c.1727_1728del (p.Ile576LysfsTer?) c.1160_1161del (p.Ile387LysfsTer?) n.46_47del c.1283_1284del (p.Ile428LysfsTer?) c.1580_1581del (p.Ile527LysfsTer?) c.1562_1563del (p.Ile521LysfsTer?) c.1271_1272del (p.Ile424LysfsTer?) c.1199_1200del (p.Ile400LysfsTer?) n.2065_2066del n.2004_2005del n.1958_1959del | gnomAD v4 |
2 | g.25244278_25244285del | CA2658168801 | DNMT3A | c.40_47del c.867_874del (n.867_874del) c.1052_1059del (p.Ala351GlufsTer?) c.1721_1728del (p.Ala574GlufsTer?) c.1154_1161del (p.Ala385GlufsTer?) n.40_47del c.1277_1284del (p.Ala426GlufsTer?) c.1574_1581del (p.Ala525GlufsTer?) c.1556_1563del (p.Ala519GlufsTer?) c.1265_1272del (p.Ala422GlufsTer?) c.1193_1200del (p.Ala398GlufsTer?) n.2059_2066del n.1998_2005del n.1952_1959del | gnomAD v4 |
2 | g.25244278_25244295del | CA2497028955 | DNMT3A | c.30_47del c.857_874del (n.857_874del) c.1042_1059del (p.Ala348_Ile353del) c.1711_1728del (p.Ala571_Ile576del) c.1144_1161del (p.Ala382_Ile387del) n.30_47del c.1267_1284del (p.Ala423_Ile428del) c.1564_1581del (p.Ala522_Ile527del) c.1546_1563del (p.Ala516_Ile521del) c.1255_1272del (p.Ala419_Ile424del) c.1183_1200del (p.Ala395_Ile400del) n.2049_2066del n.1988_2005del n.1942_1959del | |
2 | g.25244279A= | CA1239262950 | DNMT3A | c.46T= c.873T= (n.873T=) c.1058T= (p.Ile353=) c.1727T= (p.Ile576=) c.1160T= (p.Ile387=) n.46T= c.1283T= (p.Ile428=) c.1580T= (p.Ile527=) c.1562T= (p.Ile521=) c.1271T= (p.Ile424=) c.1199T= (p.Ile400=) n.2065T= n.2004T= n.1958T= | |
2 | g.25244279A>C | CA346071914 | DNMT3A | c.46T>G c.873T>G (n.873T>G) c.1058T>G (p.Ile353Ser) c.1727T>G (p.Ile576Ser) c.1160T>G (p.Ile387Ser) n.46T>G c.1283T>G (p.Ile428Ser) c.1580T>G (p.Ile527Ser) c.1562T>G (p.Ile521Ser) c.1271T>G (p.Ile424Ser) c.1199T>G (p.Ile400Ser) n.2065T>G n.2004T>G n.1958T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244279A>G | CA346071915 | DNMT3A | c.46T>C c.873T>C (n.873T>C) c.1058T>C (p.Ile353Thr) c.1727T>C (p.Ile576Thr) c.1160T>C (p.Ile387Thr) n.46T>C c.1283T>C (p.Ile428Thr) c.1580T>C (p.Ile527Thr) c.1562T>C (p.Ile521Thr) c.1271T>C (p.Ile424Thr) c.1199T>C (p.Ile400Thr) n.2065T>C n.2004T>C n.1958T>C | |
2 | g.25244279A>T | CA346071916 | DNMT3A | c.46T>A c.873T>A (n.873T>A) c.1058T>A (p.Ile353Asn) c.1727T>A (p.Ile576Asn) c.1160T>A (p.Ile387Asn) n.46T>A c.1283T>A (p.Ile428Asn) c.1580T>A (p.Ile527Asn) c.1562T>A (p.Ile521Asn) c.1271T>A (p.Ile424Asn) c.1199T>A (p.Ile400Asn) n.2065T>A n.2004T>A n.1958T>A | gnomAD v4 |
2 | g.25244279_25244289del | CA2658168810 | DNMT3A | c.36_46del c.863_873del (n.863_873del) c.1048_1058del (p.Gln350Ter) c.1717_1727del (p.Gln573Ter) c.1150_1160del (p.Gln384Ter) n.36_46del c.1273_1283del (p.Gln425Ter) c.1570_1580del (p.Gln524Ter) c.1552_1562del (p.Gln518Ter) c.1261_1271del (p.Gln421Ter) c.1189_1199del (p.Gln397Ter) n.2055_2065del n.1994_2004del n.1948_1958del | gnomAD v4 |
2 | g.25244280T>A | CA346071919 | DNMT3A | c.45A>T c.872A>T (n.872A>T) c.1057A>T (p.Ile353Phe) c.1726A>T (p.Ile576Phe) c.1159A>T (p.Ile387Phe) n.45A>T c.1282A>T (p.Ile428Phe) c.1579A>T (p.Ile527Phe) c.1561A>T (p.Ile521Phe) c.1270A>T (p.Ile424Phe) c.1198A>T (p.Ile400Phe) n.2064A>T n.2003A>T n.1957A>T | |
2 | g.25244280T>C | CA346071917 | DNMT3A | c.45A>G c.872A>G (n.872A>G) c.1057A>G (p.Ile353Val) c.1726A>G (p.Ile576Val) c.1159A>G (p.Ile387Val) n.45A>G c.1282A>G (p.Ile428Val) c.1579A>G (p.Ile527Val) c.1561A>G (p.Ile521Val) c.1270A>G (p.Ile424Val) c.1198A>G (p.Ile400Val) n.2064A>G n.2003A>G n.1957A>G | |
2 | g.25244280T>G | CA346071918 | DNMT3A | c.45A>C c.872A>C (n.872A>C) c.1057A>C (p.Ile353Leu) c.1726A>C (p.Ile576Leu) c.1159A>C (p.Ile387Leu) n.45A>C c.1282A>C (p.Ile428Leu) c.1579A>C (p.Ile527Leu) c.1561A>C (p.Ile521Leu) c.1270A>C (p.Ile424Leu) c.1198A>C (p.Ile400Leu) n.2064A>C n.2003A>C n.1957A>C | |
2 | g.25244280_25244289delinsTGGCTGCCTG | CA1239262954 | DNMT3A | c.36_45delinsCAGGCAGCCA c.863_872delinsCAGGCAGCCA (n.863_872delinsCAGGCAGCCA) c.1048_1057delinsCAGGCAGCCA (p.Gln350=) c.1717_1726delinsCAGGCAGCCA (p.Gln573=) c.1150_1159delinsCAGGCAGCCA (p.Gln384=) n.36_45delinsCAGGCAGCCA c.1273_1282delinsCAGGCAGCCA (p.Gln425=) c.1570_1579delinsCAGGCAGCCA (p.Gln524=) c.1552_1561delinsCAGGCAGCCA (p.Gln518=) c.1261_1270delinsCAGGCAGCCA (p.Gln421=) c.1189_1198delinsCAGGCAGCCA (p.Gln397=) n.2055_2064delinsCAGGCAGCCA n.1994_2003delinsCAGGCAGCCA n.1948_1957delinsCAGGCAGCCA | |
2 | g.25244280_25244298del | CA645515202 | DNMT3A | c.27_45del c.854_872del (n.854_872del) c.1039_1057del (p.Gly347LeufsTer?) c.1708_1726del (p.Gly570LeufsTer?) c.1141_1159del (p.Gly381LeufsTer?) n.27_45del c.1264_1282del (p.Gly422LeufsTer?) c.1561_1579del (p.Gly521LeufsTer?) c.1543_1561del (p.Gly515LeufsTer?) c.1252_1270del (p.Gly418LeufsTer?) c.1180_1198del (p.Gly394LeufsTer?) n.2046_2064del n.1985_2003del n.1939_1957del | COSMIC COSMIC |
2 | g.25244280_25244299delinsTGGCTGCCTGGGCAGCCCCC | CA1239262956 | DNMT3A | c.26_45delinsGGGGGCTGCCCAGGCAGCCA c.853_872delinsGGGGGCTGCCCAGGCAGCCA (n.853_872delinsGGGGGCTGCCCAGGCAGCCA) c.1038_1057delinsGGGGGCTGCCCAGGCAGCCA (p.Pro346=) c.1707_1726delinsGGGGGCTGCCCAGGCAGCCA (p.Pro569=) c.1140_1159delinsGGGGGCTGCCCAGGCAGCCA (p.Pro380=) n.26_45delinsGGGGGCTGCCCAGGCAGCCA c.1263_1282delinsGGGGGCTGCCCAGGCAGCCA (p.Pro421=) c.1560_1579delinsGGGGGCTGCCCAGGCAGCCA (p.Pro520=) c.1542_1561delinsGGGGGCTGCCCAGGCAGCCA (p.Pro514=) c.1251_1270delinsGGGGGCTGCCCAGGCAGCCA (p.Pro417=) c.1179_1198delinsGGGGGCTGCCCAGGCAGCCA (p.Pro393=) n.2045_2064delinsGGGGGCTGCCCAGGCAGCCA n.1984_2003delinsGGGGGCTGCCCAGGCAGCCA n.1938_1957delinsGGGGGCTGCCCAGGCAGCCA | |
2 | g.25244281G>A | CA425182522 | DNMT3A | c.44C>T c.871C>T (n.871C>T) c.1056C>T (p.Ala352=) c.1725C>T (p.Ala575=) c.1158C>T (p.Ala386=) n.44C>T c.1281C>T (p.Ala427=) c.1578C>T (p.Ala526=) c.1560C>T (p.Ala520=) c.1269C>T (p.Ala423=) c.1197C>T (p.Ala399=) n.2063C>T n.2002C>T n.1956C>T | |
2 | g.25244281G>C | CA425182520 | DNMT3A | c.44C>G c.871C>G (n.871C>G) c.1056C>G (p.Ala352=) c.1725C>G (p.Ala575=) c.1158C>G (p.Ala386=) n.44C>G c.1281C>G (p.Ala427=) c.1578C>G (p.Ala526=) c.1560C>G (p.Ala520=) c.1269C>G (p.Ala423=) c.1197C>G (p.Ala399=) n.2063C>G n.2002C>G n.1956C>G | |
2 | g.25244281G>T | CA425182524 | DNMT3A | c.44C>A c.871C>A (n.871C>A) c.1056C>A (p.Ala352=) c.1725C>A (p.Ala575=) c.1158C>A (p.Ala386=) n.44C>A c.1281C>A (p.Ala427=) c.1578C>A (p.Ala526=) c.1560C>A (p.Ala520=) c.1269C>A (p.Ala423=) c.1197C>A (p.Ala399=) n.2063C>A n.2002C>A n.1956C>A | |
2 | g.25244282del | CA2658168817 | DNMT3A | c.44del c.871del (n.871del) c.1056del (p.Ile353LeufsTer?) c.1725del (p.Ile576LeufsTer?) c.1158del (p.Ile387LeufsTer?) n.44del c.1281del (p.Ile428LeufsTer?) c.1578del (p.Ile527LeufsTer?) c.1560del (p.Ile521LeufsTer?) c.1269del (p.Ile424LeufsTer?) c.1197del (p.Ile400LeufsTer?) n.2063del n.2002del n.1956del | gnomAD v4 |
2 | g.25244284_25244292del | CA531760994 | DNMT3A | c.36_44del c.863_871del (n.863_871del) c.1048_1056del (p.Gln350_Ala352del) c.1717_1725del (p.Gln573_Ala575del) c.1150_1158del (p.Gln384_Ala386del) n.36_44del c.1273_1281del (p.Gln425_Ala427del) c.1570_1578del (p.Gln524_Ala526del) c.1552_1560del (p.Gln518_Ala520del) c.1261_1269del (p.Gln421_Ala423del) c.1189_1197del (p.Gln397_Ala399del) n.2055_2063del n.1994_2002del n.1948_1956del | dbSNP gnomAD v2 COSMIC COSMIC |
2 | g.25244281_25244295del | CA425182519 | DNMT3A | c.30_44del c.857_871del (n.857_871del) c.1042_1056del (p.Ala348_Ala352del) c.1711_1725del (p.Ala571_Ala575del) c.1144_1158del (p.Ala382_Ala386del) n.30_44del c.1267_1281del (p.Ala423_Ala427del) c.1564_1578del (p.Ala522_Ala526del) c.1546_1560del (p.Ala516_Ala520del) c.1255_1269del (p.Ala419_Ala423del) c.1183_1197del (p.Ala395_Ala399del) n.2049_2063del n.1988_2002del n.1942_1956del | gnomAD v4 |
2 | g.25244284_25244302del | CA1555889 | DNMT3A | c.26_44del c.853_871del (n.853_871del) c.1038_1056del (p.Gly347LeufsTer?) c.1707_1725del (p.Gly570LeufsTer?) c.1140_1158del (p.Gly381LeufsTer?) n.26_44del c.1263_1281del (p.Gly422LeufsTer?) c.1560_1578del (p.Gly521LeufsTer?) c.1542_1560del (p.Gly515LeufsTer?) c.1251_1269del (p.Gly418LeufsTer?) c.1179_1197del (p.Gly394LeufsTer?) n.2045_2063del n.1984_2002del n.1938_1956del | dbSNP ExAC gnomAD v4 |
2 | g.25244282G>A | CA346071920 | DNMT3A | c.43C>T c.870C>T (n.870C>T) c.1055C>T (p.Ala352Val) c.1724C>T (p.Ala575Val) c.1157C>T (p.Ala386Val) n.43C>T c.1280C>T (p.Ala427Val) c.1577C>T (p.Ala526Val) c.1559C>T (p.Ala520Val) c.1268C>T (p.Ala423Val) c.1196C>T (p.Ala399Val) n.2062C>T n.2001C>T n.1955C>T | dbSNP gnomAD v4 |
2 | g.25244282G>C | CA346071921 | DNMT3A | c.43C>G c.870C>G (n.870C>G) c.1055C>G (p.Ala352Gly) c.1724C>G (p.Ala575Gly) c.1157C>G (p.Ala386Gly) n.43C>G c.1280C>G (p.Ala427Gly) c.1577C>G (p.Ala526Gly) c.1559C>G (p.Ala520Gly) c.1268C>G (p.Ala423Gly) c.1196C>G (p.Ala399Gly) n.2062C>G n.2001C>G n.1955C>G | dbSNP |
2 | g.25244282G>T | CA346071922 | DNMT3A | c.43C>A c.870C>A (n.870C>A) c.1055C>A (p.Ala352Asp) c.1724C>A (p.Ala575Asp) c.1157C>A (p.Ala386Asp) n.43C>A c.1280C>A (p.Ala427Asp) c.1577C>A (p.Ala526Asp) c.1559C>A (p.Ala520Asp) c.1268C>A (p.Ala423Asp) c.1196C>A (p.Ala399Asp) n.2062C>A n.2001C>A n.1955C>A | |
2 | g.25244282_25244303del | CA2658168824 | DNMT3A | c.22_43del c.849_870del (n.849_870del) c.1034_1055del (p.Gly345AlafsTer?) c.1703_1724del (p.Gly568AlafsTer?) c.1136_1157del (p.Gly379AlafsTer?) n.22_43del c.1259_1280del (p.Gly420AlafsTer?) c.1556_1577del (p.Gly519AlafsTer?) c.1538_1559del (p.Gly513AlafsTer?) c.1247_1268del (p.Gly416AlafsTer?) c.1175_1196del (p.Gly392AlafsTer?) n.2041_2062del n.1980_2001del n.1934_1955del | gnomAD v4 |
2 | g.25244283del | CA645515203 | DNMT3A | c.42del c.869del (n.869del) c.1054del (p.Ala352ProfsTer?) c.1723del (p.Ala575ProfsTer?) c.1156del (p.Ala386ProfsTer?) n.42del c.1279del (p.Ala427ProfsTer?) c.1576del (p.Ala526ProfsTer?) c.1558del (p.Ala520ProfsTer?) c.1267del (p.Ala423ProfsTer?) c.1195del (p.Ala399ProfsTer?) n.2061del n.2000del n.1954del | COSMIC COSMIC |
2 | g.25244283C>A | CA346071923 | DNMT3A | c.42G>T c.869G>T (n.869G>T) c.1054G>T (p.Ala352Ser) c.1723G>T (p.Ala575Ser) c.1156G>T (p.Ala386Ser) n.42G>T c.1279G>T (p.Ala427Ser) c.1576G>T (p.Ala526Ser) c.1558G>T (p.Ala520Ser) c.1267G>T (p.Ala423Ser) c.1195G>T (p.Ala399Ser) n.2061G>T n.2000G>T n.1954G>T | |
2 | g.25244283C= | CA1239262963 | DNMT3A | c.42G= c.869G= (n.869G=) c.1054G= (p.Ala352=) c.1723G= (p.Ala575=) c.1156G= (p.Ala386=) n.42G= c.1279G= (p.Ala427=) c.1576G= (p.Ala526=) c.1558G= (p.Ala520=) c.1267G= (p.Ala423=) c.1195G= (p.Ala399=) n.2061G= n.2000G= n.1954G= | |
2 | g.25244283C>G | CA346071924 | DNMT3A | c.42G>C c.869G>C (n.869G>C) c.1054G>C (p.Ala352Pro) c.1723G>C (p.Ala575Pro) c.1156G>C (p.Ala386Pro) n.42G>C c.1279G>C (p.Ala427Pro) c.1576G>C (p.Ala526Pro) c.1558G>C (p.Ala520Pro) c.1267G>C (p.Ala423Pro) c.1195G>C (p.Ala399Pro) n.2061G>C n.2000G>C n.1954G>C | gnomAD v4 |
2 | g.25244283C>T | CA346071925 | DNMT3A | c.42G>A c.869G>A (n.869G>A) c.1054G>A (p.Ala352Thr) c.1723G>A (p.Ala575Thr) c.1156G>A (p.Ala386Thr) n.42G>A c.1279G>A (p.Ala427Thr) c.1576G>A (p.Ala526Thr) c.1558G>A (p.Ala520Thr) c.1267G>A (p.Ala423Thr) c.1195G>A (p.Ala399Thr) n.2061G>A n.2000G>A n.1954G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244286_25244289del | CA2658168831 | DNMT3A | c.39_42del c.866_869del (n.866_869del) c.1051_1054del (p.Ala351ProfsTer?) c.1720_1723del (p.Ala574ProfsTer?) c.1153_1156del (p.Ala385ProfsTer?) n.39_42del c.1276_1279del (p.Ala426ProfsTer?) c.1573_1576del (p.Ala525ProfsTer?) c.1555_1558del (p.Ala519ProfsTer?) c.1264_1267del (p.Ala422ProfsTer?) c.1192_1195del (p.Ala398ProfsTer?) n.2058_2061del n.1997_2000del n.1951_1954del | gnomAD v4 |
2 | g.25244284_25244296del | CA2658168833 | DNMT3A | c.30_42del c.857_869del (n.857_869del) c.1042_1054del (p.Ala348ProfsTer?) c.1711_1723del (p.Ala571ProfsTer?) c.1144_1156del (p.Ala382ProfsTer?) n.30_42del c.1267_1279del (p.Ala423ProfsTer?) c.1564_1576del (p.Ala522ProfsTer?) c.1546_1558del (p.Ala516ProfsTer?) c.1255_1267del (p.Ala419ProfsTer?) c.1183_1195del (p.Ala395ProfsTer?) n.2049_2061del n.1988_2000del n.1942_1954del | gnomAD v4 |
2 | g.25244284del | CA2658168844 | DNMT3A | c.41del c.868del (n.868del) c.1053del (p.Ala352ProfsTer?) c.1722del (p.Ala575ProfsTer?) c.1155del (p.Ala386ProfsTer?) n.41del c.1278del (p.Ala427ProfsTer?) c.1575del (p.Ala526ProfsTer?) c.1557del (p.Ala520ProfsTer?) c.1266del (p.Ala423ProfsTer?) c.1194del (p.Ala399ProfsTer?) n.2060del n.1999del n.1953del | gnomAD v4 |
2 | g.25244284T>A | CA425182528 | DNMT3A | c.41A>T c.868A>T (n.868A>T) c.1053A>T (p.Ala351=) c.1722A>T (p.Ala574=) c.1155A>T (p.Ala385=) n.41A>T c.1278A>T (p.Ala426=) c.1575A>T (p.Ala525=) c.1557A>T (p.Ala519=) c.1266A>T (p.Ala422=) c.1194A>T (p.Ala398=) n.2060A>T n.1999A>T n.1953A>T | |
2 | g.25244284T>C | CA425182532 | DNMT3A | c.41A>G c.868A>G (n.868A>G) c.1053A>G (p.Ala351=) c.1722A>G (p.Ala574=) c.1155A>G (p.Ala385=) n.41A>G c.1278A>G (p.Ala426=) c.1575A>G (p.Ala525=) c.1557A>G (p.Ala519=) c.1266A>G (p.Ala422=) c.1194A>G (p.Ala398=) n.2060A>G n.1999A>G n.1953A>G | gnomAD v4 |
2 | g.25244284T>G | CA425182530 | DNMT3A | c.41A>C c.868A>C (n.868A>C) c.1053A>C (p.Ala351=) c.1722A>C (p.Ala574=) c.1155A>C (p.Ala385=) n.41A>C c.1278A>C (p.Ala426=) c.1575A>C (p.Ala525=) c.1557A>C (p.Ala519=) c.1266A>C (p.Ala422=) c.1194A>C (p.Ala398=) n.2060A>C n.1999A>C n.1953A>C | dbSNP |
2 | g.25244284T= | CA1239262967 | DNMT3A | c.41A= c.868A= (n.868A=) c.1053A= (p.Ala351=) c.1722A= (p.Ala574=) c.1155A= (p.Ala385=) n.41A= c.1278A= (p.Ala426=) c.1575A= (p.Ala525=) c.1557A= (p.Ala519=) c.1266A= (p.Ala422=) c.1194A= (p.Ala398=) n.2060A= n.1999A= n.1953A= | |
2 | g.25244284_25244293delinsTGCCTGGGCA | CA1239262966 | DNMT3A | c.32_41delinsTGCCCAGGCA c.859_868delinsTGCCCAGGCA (n.859_868delinsTGCCCAGGCA) c.1044_1053delinsTGCCCAGGCA (p.Ala348=) c.1713_1722delinsTGCCCAGGCA (p.Ala571=) c.1146_1155delinsTGCCCAGGCA (p.Ala382=) n.32_41delinsTGCCCAGGCA c.1269_1278delinsTGCCCAGGCA (p.Ala423=) c.1566_1575delinsTGCCCAGGCA (p.Ala522=) c.1548_1557delinsTGCCCAGGCA (p.Ala516=) c.1257_1266delinsTGCCCAGGCA (p.Ala419=) c.1185_1194delinsTGCCCAGGCA (p.Ala395=) n.2051_2060delinsTGCCCAGGCA n.1990_1999delinsTGCCCAGGCA n.1944_1953delinsTGCCCAGGCA | |
2 | g.25244285del | CA2576694332 | DNMT3A | c.40del c.867del (n.867del) c.1052del (p.Ala351GlufsTer?) c.1721del (p.Ala574GlufsTer?) c.1154del (p.Ala385GlufsTer?) n.40del c.1277del (p.Ala426GlufsTer?) c.1574del (p.Ala525GlufsTer?) c.1556del (p.Ala519GlufsTer?) c.1265del (p.Ala422GlufsTer?) c.1193del (p.Ala398GlufsTer?) n.2059del n.1998del n.1952del | gnomAD v4 |
2 | g.25244285G>A | CA346071926 | DNMT3A | c.40C>T c.867C>T (n.867C>T) c.1052C>T (p.Ala351Val) c.1721C>T (p.Ala574Val) c.1154C>T (p.Ala385Val) n.40C>T c.1277C>T (p.Ala426Val) c.1574C>T (p.Ala525Val) c.1556C>T (p.Ala519Val) c.1265C>T (p.Ala422Val) c.1193C>T (p.Ala398Val) n.2059C>T n.1998C>T n.1952C>T | |
2 | g.25244285G>C | CA346071927 | DNMT3A | c.40C>G c.867C>G (n.867C>G) c.1052C>G (p.Ala351Gly) c.1721C>G (p.Ala574Gly) c.1154C>G (p.Ala385Gly) n.40C>G c.1277C>G (p.Ala426Gly) c.1574C>G (p.Ala525Gly) c.1556C>G (p.Ala519Gly) c.1265C>G (p.Ala422Gly) c.1193C>G (p.Ala398Gly) n.2059C>G n.1998C>G n.1952C>G | |
2 | g.25244285G>T | CA346071928 | DNMT3A | c.40C>A c.867C>A (n.867C>A) c.1052C>A (p.Ala351Glu) c.1721C>A (p.Ala574Glu) c.1154C>A (p.Ala385Glu) n.40C>A c.1277C>A (p.Ala426Glu) c.1574C>A (p.Ala525Glu) c.1556C>A (p.Ala519Glu) c.1265C>A (p.Ala422Glu) c.1193C>A (p.Ala398Glu) n.2059C>A n.1998C>A n.1952C>A | |
2 | g.25244285_25244292del | CA915940699 | DNMT3A | c.33_40del c.860_867del (n.860_867del) c.1045_1052del (p.Ala349SerfsTer3) c.1714_1721del (p.Ala572SerfsTer3) c.1147_1154del (p.Ala383SerfsTer3) n.33_40del c.1270_1277del (p.Ala424SerfsTer3) c.1567_1574del (p.Ala523SerfsTer3) c.1549_1556del (p.Ala517SerfsTer3) c.1258_1265del (p.Ala420SerfsTer3) c.1186_1193del (p.Ala396SerfsTer3) n.2052_2059del n.1991_1998del n.1945_1952del | |
2 | g.25244285_25244295delinsA | CA915940458 | DNMT3A | c.30_40delinsT c.857_867delinsT (n.857_867delinsT) c.1042_1052delinsT (p.Ala348Ter) c.1711_1721delinsT (p.Ala571Ter) c.1144_1154delinsT (p.Ala382Ter) n.30_40delinsT c.1267_1277delinsT (p.Ala423Ter) c.1564_1574delinsT (p.Ala522Ter) c.1546_1556delinsT (p.Ala516Ter) c.1255_1265delinsT (p.Ala419Ter) c.1183_1193delinsT (p.Ala395Ter) n.2049_2059delinsT n.1988_1998delinsT n.1942_1952delinsT | |
2 | g.25244288_25244296del | CA1555890 | DNMT3A | c.32_40del c.859_867del (n.859_867del) c.1044_1052del (p.Ala349_Ala351del) c.1713_1721del (p.Ala572_Ala574del) c.1146_1154del (p.Ala383_Ala385del) n.32_40del c.1269_1277del (p.Ala424_Ala426del) c.1566_1574del (p.Ala523_Ala525del) c.1548_1556del (p.Ala517_Ala519del) c.1257_1265del (p.Ala420_Ala422del) c.1185_1193del (p.Ala396_Ala398del) n.2051_2059del n.1990_1998del n.1944_1952del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25244286C>A | CA346071931 | DNMT3A | c.39G>T c.866G>T (n.866G>T) c.1051G>T (p.Ala351Ser) c.1720G>T (p.Ala574Ser) c.1153G>T (p.Ala385Ser) n.39G>T c.1276G>T (p.Ala426Ser) c.1573G>T (p.Ala525Ser) c.1555G>T (p.Ala519Ser) c.1264G>T (p.Ala422Ser) c.1192G>T (p.Ala398Ser) n.2058G>T n.1997G>T n.1951G>T | |
2 | g.25244286C= | CA1239262972 | DNMT3A | c.39G= c.866G= (n.866G=) c.1051G= (p.Ala351=) c.1720G= (p.Ala574=) c.1153G= (p.Ala385=) n.39G= c.1276G= (p.Ala426=) c.1573G= (p.Ala525=) c.1555G= (p.Ala519=) c.1264G= (p.Ala422=) c.1192G= (p.Ala398=) n.2058G= n.1997G= n.1951G= | |
2 | g.25244286C>G | CA346071929 | DNMT3A | c.39G>C c.866G>C (n.866G>C) c.1051G>C (p.Ala351Pro) c.1720G>C (p.Ala574Pro) c.1153G>C (p.Ala385Pro) n.39G>C c.1276G>C (p.Ala426Pro) c.1573G>C (p.Ala525Pro) c.1555G>C (p.Ala519Pro) c.1264G>C (p.Ala422Pro) c.1192G>C (p.Ala398Pro) n.2058G>C n.1997G>C n.1951G>C | dbSNP |
2 | g.25244286C>T | CA346071930 | DNMT3A | c.39G>A c.866G>A (n.866G>A) c.1051G>A (p.Ala351Thr) c.1720G>A (p.Ala574Thr) c.1153G>A (p.Ala385Thr) n.39G>A c.1276G>A (p.Ala426Thr) c.1573G>A (p.Ala525Thr) c.1555G>A (p.Ala519Thr) c.1264G>A (p.Ala422Thr) c.1192G>A (p.Ala398Thr) n.2058G>A n.1997G>A n.1951G>A | dbSNP |
2 | g.25244287del | CA2658168854 | DNMT3A | c.39del c.866del (n.866del) c.1051del (p.Ala351GlnfsTer?) c.1720del (p.Ala574GlnfsTer?) c.1153del (p.Ala385GlnfsTer?) n.39del c.1276del (p.Ala426GlnfsTer?) c.1573del (p.Ala525GlnfsTer?) c.1555del (p.Ala519GlnfsTer?) c.1264del (p.Ala422GlnfsTer?) c.1192del (p.Ala398GlnfsTer?) n.2058del n.1997del n.1951del | gnomAD v4 |
2 | g.25244288_25244297del | CA2658168855 | DNMT3A | c.30_39del c.857_866del (n.857_866del) c.1042_1051del (p.Ala348GlnfsTer?) c.1711_1720del (p.Ala571GlnfsTer?) c.1144_1153del (p.Ala382GlnfsTer?) n.30_39del c.1267_1276del (p.Ala423GlnfsTer?) c.1564_1573del (p.Ala522GlnfsTer?) c.1546_1555del (p.Ala516GlnfsTer?) c.1255_1264del (p.Ala419GlnfsTer?) c.1183_1192del (p.Ala395GlnfsTer?) n.2049_2058del n.1988_1997del n.1942_1951del | gnomAD v4 |
2 | g.25244286_25244287insTTTTTTA | CA1239262976 | DNMT3A | c.38_39insTAAAAAA c.865_866insTAAAAAA (n.865_866insTAAAAAA) c.1050_1051insTAAAAAA (p.Ala351Ter) c.1719_1720insTAAAAAA (p.Ala574Ter) c.1152_1153insTAAAAAA (p.Ala385Ter) n.38_39insTAAAAAA c.1275_1276insTAAAAAA (p.Ala426Ter) c.1572_1573insTAAAAAA (p.Ala525Ter) c.1554_1555insTAAAAAA (p.Ala519Ter) c.1263_1264insTAAAAAA (p.Ala422Ter) c.1191_1192insTAAAAAA (p.Ala398Ter) n.2057_2058insTAAAAAA n.1996_1997insTAAAAAA n.1950_1951insTAAAAAA | dbSNP |
2 | g.25244287C>A | CA346071932 | DNMT3A | c.38G>T c.865G>T (n.865G>T) c.1050G>T (p.Gln350His) c.1719G>T (p.Gln573His) c.1152G>T (p.Gln384His) n.38G>T c.1275G>T (p.Gln425His) c.1572G>T (p.Gln524His) c.1554G>T (p.Gln518His) c.1263G>T (p.Gln421His) c.1191G>T (p.Gln397His) n.2057G>T n.1996G>T n.1950G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244287C= | CA1239262980 | DNMT3A | c.38G= c.865G= (n.865G=) c.1050G= (p.Gln350=) c.1719G= (p.Gln573=) c.1152G= (p.Gln384=) n.38G= c.1275G= (p.Gln425=) c.1572G= (p.Gln524=) c.1554G= (p.Gln518=) c.1263G= (p.Gln421=) c.1191G= (p.Gln397=) n.2057G= n.1996G= n.1950G= | |
2 | g.25244287C>G | CA346071933 | DNMT3A | c.38G>C c.865G>C (n.865G>C) c.1050G>C (p.Gln350His) c.1719G>C (p.Gln573His) c.1152G>C (p.Gln384His) n.38G>C c.1275G>C (p.Gln425His) c.1572G>C (p.Gln524His) c.1554G>C (p.Gln518His) c.1263G>C (p.Gln421His) c.1191G>C (p.Gln397His) n.2057G>C n.1996G>C n.1950G>C | |
2 | g.25244287C>T | CA425182554 | DNMT3A | c.38G>A c.865G>A (n.865G>A) c.1050G>A (p.Gln350=) c.1719G>A (p.Gln573=) c.1152G>A (p.Gln384=) n.38G>A c.1275G>A (p.Gln425=) c.1572G>A (p.Gln524=) c.1554G>A (p.Gln518=) c.1263G>A (p.Gln421=) c.1191G>A (p.Gln397=) n.2057G>A n.1996G>A n.1950G>A | |
2 | g.25244287_25244293del | CA2658168859 | DNMT3A | c.32_38del c.859_865del (n.859_865del) c.1044_1050del (p.Ala349GlnfsTer?) c.1713_1719del (p.Ala572GlnfsTer?) c.1146_1152del (p.Ala383GlnfsTer?) n.32_38del c.1269_1275del (p.Ala424GlnfsTer?) c.1566_1572del (p.Ala523GlnfsTer?) c.1548_1554del (p.Ala517GlnfsTer?) c.1257_1263del (p.Ala420GlnfsTer?) c.1185_1191del (p.Ala396GlnfsTer?) n.2051_2057del n.1990_1996del n.1944_1950del | gnomAD v4 |
2 | g.25244287_25244294delinsCTGGGCAG | CA1239262977 | DNMT3A | c.31_38delinsCTGCCCAG c.858_865delinsCTGCCCAG (n.858_865delinsCTGCCCAG) c.1043_1050delinsCTGCCCAG (p.Ala348=) c.1712_1719delinsCTGCCCAG (p.Ala571=) c.1145_1152delinsCTGCCCAG (p.Ala382=) n.31_38delinsCTGCCCAG c.1268_1275delinsCTGCCCAG (p.Ala423=) c.1565_1572delinsCTGCCCAG (p.Ala522=) c.1547_1554delinsCTGCCCAG (p.Ala516=) c.1256_1263delinsCTGCCCAG (p.Ala419=) c.1184_1191delinsCTGCCCAG (p.Ala395=) n.2050_2057delinsCTGCCCAG n.1989_1996delinsCTGCCCAG n.1943_1950delinsCTGCCCAG | |
2 | g.25244288_25244295del | CA2576694334 | DNMT3A | c.31_38del c.858_865del (n.858_865del) c.1043_1050del (p.Ala348GlyfsTer4) c.1712_1719del (p.Ala571GlyfsTer4) c.1145_1152del (p.Ala382GlyfsTer4) n.31_38del c.1268_1275del (p.Ala423GlyfsTer4) c.1565_1572del (p.Ala522GlyfsTer4) c.1547_1554del (p.Ala516GlyfsTer4) c.1256_1263del (p.Ala419GlyfsTer4) c.1184_1191del (p.Ala395GlyfsTer4) n.2050_2057del n.1989_1996del n.1943_1950del | gnomAD v4 |
2 | g.25244287_25244288insCA | CA2658168867 | DNMT3A | c.37_38insTG c.864_865insTG (n.864_865insTG) c.1049_1050insTG (p.Gln350HisfsTer?) c.1718_1719insTG (p.Gln573HisfsTer?) c.1151_1152insTG (p.Gln384HisfsTer?) n.37_38insTG c.1274_1275insTG (p.Gln425HisfsTer?) c.1571_1572insTG (p.Gln524HisfsTer?) c.1553_1554insTG (p.Gln518HisfsTer?) c.1262_1263insTG (p.Gln421HisfsTer?) c.1190_1191insTG (p.Gln397HisfsTer?) n.2056_2057insTG n.1995_1996insTG n.1949_1950insTG | gnomAD v4 |
2 | g.25244288T>A | CA346071934 | DNMT3A | c.37A>T c.864A>T (n.864A>T) c.1049A>T (p.Gln350Leu) c.1718A>T (p.Gln573Leu) c.1151A>T (p.Gln384Leu) n.37A>T c.1274A>T (p.Gln425Leu) c.1571A>T (p.Gln524Leu) c.1553A>T (p.Gln518Leu) c.1262A>T (p.Gln421Leu) c.1190A>T (p.Gln397Leu) n.2056A>T n.1995A>T n.1949A>T | |
2 | g.25244288T>C | CA346071935 | DNMT3A | c.37A>G c.864A>G (n.864A>G) c.1049A>G (p.Gln350Arg) c.1718A>G (p.Gln573Arg) c.1151A>G (p.Gln384Arg) n.37A>G c.1274A>G (p.Gln425Arg) c.1571A>G (p.Gln524Arg) c.1553A>G (p.Gln518Arg) c.1262A>G (p.Gln421Arg) c.1190A>G (p.Gln397Arg) n.2056A>G n.1995A>G n.1949A>G | |
2 | g.25244288T>G | CA346071936 | DNMT3A | c.37A>C c.864A>C (n.864A>C) c.1049A>C (p.Gln350Pro) c.1718A>C (p.Gln573Pro) c.1151A>C (p.Gln384Pro) n.37A>C c.1274A>C (p.Gln425Pro) c.1571A>C (p.Gln524Pro) c.1553A>C (p.Gln518Pro) c.1262A>C (p.Gln421Pro) c.1190A>C (p.Gln397Pro) n.2056A>C n.1995A>C n.1949A>C | |
2 | g.25244288_25244290del | CA2658168869 | DNMT3A | c.35_37del c.862_864del (n.862_864del) c.1047_1049del (p.Gln350del) c.1716_1718del (p.Gln573del) c.1149_1151del (p.Gln384del) n.35_37del c.1272_1274del (p.Gln425del) c.1569_1571del (p.Gln524del) c.1551_1553del (p.Gln518del) c.1260_1262del (p.Gln421del) c.1188_1190del (p.Gln397del) n.2054_2056del n.1993_1995del n.1947_1949del | gnomAD v4 |
2 | g.25244288_25244294del | CA1555891 | DNMT3A | c.31_37del c.858_864del (n.858_864del) c.1043_1049del (p.Ala348GlyfsTer?) c.1712_1718del (p.Ala571GlyfsTer?) c.1145_1151del (p.Ala382GlyfsTer?) n.31_37del c.1268_1274del (p.Ala423GlyfsTer?) c.1565_1571del (p.Ala522GlyfsTer?) c.1547_1553del (p.Ala516GlyfsTer?) c.1256_1262del (p.Ala419GlyfsTer?) c.1184_1190del (p.Ala395GlyfsTer?) n.2050_2056del n.1989_1995del n.1943_1949del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244289G>A | CA43703403 | DNMT3A | c.36C>T c.863C>T (n.863C>T) c.1048C>T (p.Gln350Ter) c.1717C>T (p.Gln573Ter) c.1150C>T (p.Gln384Ter) n.36C>T c.1273C>T (p.Gln425Ter) c.1570C>T (p.Gln524Ter) c.1552C>T (p.Gln518Ter) c.1261C>T (p.Gln421Ter) c.1189C>T (p.Gln397Ter) n.2055C>T n.1994C>T n.1948C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.25244289G>C | CA346071937 | DNMT3A | c.36C>G c.863C>G (n.863C>G) c.1048C>G (p.Gln350Glu) c.1717C>G (p.Gln573Glu) c.1150C>G (p.Gln384Glu) n.36C>G c.1273C>G (p.Gln425Glu) c.1570C>G (p.Gln524Glu) c.1552C>G (p.Gln518Glu) c.1261C>G (p.Gln421Glu) c.1189C>G (p.Gln397Glu) n.2055C>G n.1994C>G n.1948C>G | |
2 | g.25244289G= | CA1239262985 | DNMT3A | c.36C= c.863C= (n.863C=) c.1048C= (p.Gln350=) c.1717C= (p.Gln573=) c.1150C= (p.Gln384=) n.36C= c.1273C= (p.Gln425=) c.1570C= (p.Gln524=) c.1552C= (p.Gln518=) c.1261C= (p.Gln421=) c.1189C= (p.Gln397=) n.2055C= n.1994C= n.1948C= | |
2 | g.25244289G>T | CA346071938 | DNMT3A | c.36C>A c.863C>A (n.863C>A) c.1048C>A (p.Gln350Lys) c.1717C>A (p.Gln573Lys) c.1150C>A (p.Gln384Lys) n.36C>A c.1273C>A (p.Gln425Lys) c.1570C>A (p.Gln524Lys) c.1552C>A (p.Gln518Lys) c.1261C>A (p.Gln421Lys) c.1189C>A (p.Gln397Lys) n.2055C>A n.1994C>A n.1948C>A | |
2 | g.25244289_25244291del | CA2580618095 | DNMT3A | c.34_36del c.861_863del (n.861_863del) c.1046_1048del (p.Ala349_Gln350delinsGlu) c.1715_1717del (p.Ala572_Gln573delinsGlu) c.1148_1150del (p.Ala383_Gln384delinsGlu) n.34_36del c.1271_1273del (p.Ala424_Gln425delinsGlu) c.1568_1570del (p.Ala523_Gln524delinsGlu) c.1550_1552del (p.Ala517_Gln518delinsGlu) c.1259_1261del (p.Ala420_Gln421delinsGlu) c.1187_1189del (p.Ala396_Gln397delinsGlu) n.2053_2055del n.1992_1994del n.1946_1948del | |
2 | g.25244290_25244301del | CA645515204 | DNMT3A | c.25_36del c.852_863del (n.852_863del) c.1037_1048del (p.Pro346_Ala349del) c.1706_1717del (p.Pro569_Ala572del) c.1139_1150del (p.Pro380_Ala383del) n.25_36del c.1262_1273del (p.Pro421_Ala424del) c.1559_1570del (p.Pro520_Ala523del) c.1541_1552del (p.Pro514_Ala517del) c.1250_1261del (p.Pro417_Ala420del) c.1178_1189del (p.Pro393_Ala396del) n.2044_2055del n.1983_1994del n.1937_1948del | COSMIC |
2 | g.25244289_25244290insATAC | CA1239262989 | DNMT3A | c.35_36insGTAT c.862_863insGTAT (n.862_863insGTAT) c.1047_1048insGTAT (p.Gln350ValfsTer6) c.1716_1717insGTAT (p.Gln573ValfsTer6) c.1149_1150insGTAT (p.Gln384ValfsTer6) n.35_36insGTAT c.1272_1273insGTAT (p.Gln425ValfsTer6) c.1569_1570insGTAT (p.Gln524ValfsTer6) c.1551_1552insGTAT (p.Gln518ValfsTer6) c.1260_1261insGTAT (p.Gln421ValfsTer6) c.1188_1189insGTAT (p.Gln397ValfsTer6) n.2054_2055insGTAT n.1993_1994insGTAT n.1947_1948insGTAT | dbSNP |
2 | g.25244290G>A | CA425182565 | DNMT3A | c.35C>T c.862C>T (n.862C>T) c.1047C>T (p.Ala349=) c.1716C>T (p.Ala572=) c.1149C>T (p.Ala383=) n.35C>T c.1272C>T (p.Ala424=) c.1569C>T (p.Ala523=) c.1551C>T (p.Ala517=) c.1260C>T (p.Ala420=) c.1188C>T (p.Ala396=) n.2054C>T n.1993C>T n.1947C>T | |
2 | g.25244290G>C | CA43703404 | DNMT3A | c.35C>G c.862C>G (n.862C>G) c.1047C>G (p.Ala349=) c.1716C>G (p.Ala572=) c.1149C>G (p.Ala383=) n.35C>G c.1272C>G (p.Ala424=) c.1569C>G (p.Ala523=) c.1551C>G (p.Ala517=) c.1260C>G (p.Ala420=) c.1188C>G (p.Ala396=) n.2054C>G n.1993C>G n.1947C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244290G= | CA1239262990 | DNMT3A | c.35C= c.862C= (n.862C=) c.1047C= (p.Ala349=) c.1716C= (p.Ala572=) c.1149C= (p.Ala383=) n.35C= c.1272C= (p.Ala424=) c.1569C= (p.Ala523=) c.1551C= (p.Ala517=) c.1260C= (p.Ala420=) c.1188C= (p.Ala396=) n.2054C= n.1993C= n.1947C= | |
2 | g.25244290G>T | CA425182570 | DNMT3A | c.35C>A c.862C>A (n.862C>A) c.1047C>A (p.Ala349=) c.1716C>A (p.Ala572=) c.1149C>A (p.Ala383=) n.35C>A c.1272C>A (p.Ala424=) c.1569C>A (p.Ala523=) c.1551C>A (p.Ala517=) c.1260C>A (p.Ala420=) c.1188C>A (p.Ala396=) n.2054C>A n.1993C>A n.1947C>A | |
2 | g.25244290_25244293delinsGGCA | CA1239262992 | DNMT3A | c.32_35delinsTGCC c.859_862delinsTGCC (n.859_862delinsTGCC) c.1044_1047delinsTGCC (p.Ala348=) c.1713_1716delinsTGCC (p.Ala571=) c.1146_1149delinsTGCC (p.Ala382=) n.32_35delinsTGCC c.1269_1272delinsTGCC (p.Ala423=) c.1566_1569delinsTGCC (p.Ala522=) c.1548_1551delinsTGCC (p.Ala516=) c.1257_1260delinsTGCC (p.Ala419=) c.1185_1188delinsTGCC (p.Ala395=) n.2051_2054delinsTGCC n.1990_1993delinsTGCC n.1944_1947delinsTGCC | |
2 | g.25244290_25244298del | CA2658168887 | DNMT3A | c.27_35del c.854_862del (n.854_862del) c.1039_1047del (p.Gly347_Ala349del) c.1708_1716del (p.Gly570_Ala572del) c.1141_1149del (p.Gly381_Ala383del) n.27_35del c.1264_1272del (p.Gly422_Ala424del) c.1561_1569del (p.Gly521_Ala523del) c.1543_1551del (p.Gly515_Ala517del) c.1252_1260del (p.Gly418_Ala420del) c.1180_1188del (p.Gly394_Ala396del) n.2046_2054del n.1985_1993del n.1939_1947del | gnomAD v4 |
2 | g.25244291G>A | CA346071939 | DNMT3A | c.34C>T c.861C>T (n.861C>T) c.1046C>T (p.Ala349Val) c.1715C>T (p.Ala572Val) c.1148C>T (p.Ala383Val) n.34C>T c.1271C>T (p.Ala424Val) c.1568C>T (p.Ala523Val) c.1550C>T (p.Ala517Val) c.1259C>T (p.Ala420Val) c.1187C>T (p.Ala396Val) n.2053C>T n.1992C>T n.1946C>T | dbSNP |
2 | g.25244291G>C | CA346071940 | DNMT3A | c.34C>G c.861C>G (n.861C>G) c.1046C>G (p.Ala349Gly) c.1715C>G (p.Ala572Gly) c.1148C>G (p.Ala383Gly) n.34C>G c.1271C>G (p.Ala424Gly) c.1568C>G (p.Ala523Gly) c.1550C>G (p.Ala517Gly) c.1259C>G (p.Ala420Gly) c.1187C>G (p.Ala396Gly) n.2053C>G n.1992C>G n.1946C>G | dbSNP |
2 | g.25244291G>T | CA346071941 | DNMT3A | c.34C>A c.861C>A (n.861C>A) c.1046C>A (p.Ala349Asp) c.1715C>A (p.Ala572Asp) c.1148C>A (p.Ala383Asp) n.34C>A c.1271C>A (p.Ala424Asp) c.1568C>A (p.Ala523Asp) c.1550C>A (p.Ala517Asp) c.1259C>A (p.Ala420Asp) c.1187C>A (p.Ala396Asp) n.2053C>A n.1992C>A n.1946C>A | |
2 | g.25244291_25244292del | CA2658168894 | DNMT3A | c.33_34del c.860_861del (n.860_861del) c.1045_1046del (p.Ala349ProfsTer5) c.1714_1715del (p.Ala572ProfsTer5) c.1147_1148del (p.Ala383ProfsTer5) n.33_34del c.1270_1271del (p.Ala424ProfsTer5) c.1567_1568del (p.Ala523ProfsTer5) c.1549_1550del (p.Ala517ProfsTer5) c.1258_1259del (p.Ala420ProfsTer5) c.1186_1187del (p.Ala396ProfsTer5) n.2052_2053del n.1991_1992del n.1945_1946del | gnomAD v4 |
2 | g.25244291_25244295del | CA2576694340 | DNMT3A | c.30_34del c.857_861del (n.857_861del) c.1042_1046del (p.Ala348ProfsTer5) c.1711_1715del (p.Ala571ProfsTer5) c.1144_1148del (p.Ala382ProfsTer5) n.30_34del c.1267_1271del (p.Ala423ProfsTer5) c.1564_1568del (p.Ala522ProfsTer5) c.1546_1550del (p.Ala516ProfsTer5) c.1255_1259del (p.Ala419ProfsTer5) c.1183_1187del (p.Ala395ProfsTer5) n.2049_2053del n.1988_1992del n.1942_1946del | |
2 | g.25244293_25244295dup | CA2658168893 | DNMT3A | c.32_34dup c.859_861dup (n.859_861dup) c.1044_1046dup (p.Ala349_Gln350insAla) c.1713_1715dup (p.Ala572_Gln573insAla) c.1146_1148dup (p.Ala383_Gln384insAla) n.32_34dup c.1269_1271dup (p.Ala424_Gln425insAla) c.1566_1568dup (p.Ala523_Gln524insAla) c.1548_1550dup (p.Ala517_Gln518insAla) c.1257_1259dup (p.Ala420_Gln421insAla) c.1185_1187dup (p.Ala396_Gln397insAla) n.2051_2053dup n.1990_1992dup n.1944_1946dup | gnomAD v4 |
2 | g.25244293_25244295del | CA645515205 | DNMT3A | c.32_34del c.859_861del (n.859_861del) c.1044_1046del (p.Ala349del) c.1713_1715del (p.Ala572del) c.1146_1148del (p.Ala383del) n.32_34del c.1269_1271del (p.Ala424del) c.1566_1568del (p.Ala523del) c.1548_1550del (p.Ala517del) c.1257_1259del (p.Ala420del) c.1185_1187del (p.Ala396del) n.2051_2053del n.1990_1992del n.1944_1946del | dbSNP COSMIC |
2 | g.25244291_25244298del | CA2576694339 | DNMT3A | c.27_34del c.854_861del (n.854_861del) c.1039_1046del (p.Gly347ProfsTer5) c.1708_1715del (p.Gly570ProfsTer5) c.1141_1148del (p.Gly381ProfsTer5) n.27_34del c.1264_1271del (p.Gly422ProfsTer5) c.1561_1568del (p.Gly521ProfsTer5) c.1543_1550del (p.Gly515ProfsTer5) c.1252_1259del (p.Gly418ProfsTer5) c.1180_1187del (p.Gly394ProfsTer5) n.2046_2053del n.1985_1992del n.1939_1946del | |
2 | g.25244292C>A | CA346071942 | DNMT3A | c.33G>T c.860G>T (n.860G>T) c.1045G>T (p.Ala349Ser) c.1714G>T (p.Ala572Ser) c.1147G>T (p.Ala383Ser) n.33G>T c.1270G>T (p.Ala424Ser) c.1567G>T (p.Ala523Ser) c.1549G>T (p.Ala517Ser) c.1258G>T (p.Ala420Ser) c.1186G>T (p.Ala396Ser) n.2052G>T n.1991G>T n.1945G>T | COSMIC COSMIC |
2 | g.25244292C= | CA1239262997 | DNMT3A | c.33G= c.860G= (n.860G=) c.1045G= (p.Ala349=) c.1714G= (p.Ala572=) c.1147G= (p.Ala383=) n.33G= c.1270G= (p.Ala424=) c.1567G= (p.Ala523=) c.1549G= (p.Ala517=) c.1258G= (p.Ala420=) c.1186G= (p.Ala396=) n.2052G= n.1991G= n.1945G= | |
2 | g.25244292C>G | CA346071943 | DNMT3A | c.33G>C c.860G>C (n.860G>C) c.1045G>C (p.Ala349Pro) c.1714G>C (p.Ala572Pro) c.1147G>C (p.Ala383Pro) n.33G>C c.1270G>C (p.Ala424Pro) c.1567G>C (p.Ala523Pro) c.1549G>C (p.Ala517Pro) c.1258G>C (p.Ala420Pro) c.1186G>C (p.Ala396Pro) n.2052G>C n.1991G>C n.1945G>C | ClinVar |
2 | g.25244292C>T | CA346071944 | DNMT3A | c.33G>A c.860G>A (n.860G>A) c.1045G>A (p.Ala349Thr) c.1714G>A (p.Ala572Thr) c.1147G>A (p.Ala383Thr) n.33G>A c.1270G>A (p.Ala424Thr) c.1567G>A (p.Ala523Thr) c.1549G>A (p.Ala517Thr) c.1258G>A (p.Ala420Thr) c.1186G>A (p.Ala396Thr) n.2052G>A n.1991G>A n.1945G>A | dbSNP |
2 | g.25244292_25244293insG | CA1028509809 | DNMT3A | c.32_33insC c.859_860insC (n.859_860insC) c.1044_1045insC (p.Ala349ArgfsTer6) c.1713_1714insC (p.Ala572ArgfsTer6) c.1146_1147insC (p.Ala383ArgfsTer6) n.32_33insC c.1269_1270insC (p.Ala424ArgfsTer6) c.1566_1567insC (p.Ala523ArgfsTer6) c.1548_1549insC (p.Ala517ArgfsTer6) c.1257_1258insC (p.Ala420ArgfsTer6) c.1185_1186insC (p.Ala396ArgfsTer6) n.2051_2052insC n.1990_1991insC n.1944_1945insC | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244293del | CA2658168896 | DNMT3A | c.32del c.859del (n.859del) c.1044del (p.Ala349ProfsTer?) c.1713del (p.Ala572ProfsTer?) c.1146del (p.Ala383ProfsTer?) n.32del c.1269del (p.Ala424ProfsTer?) c.1566del (p.Ala523ProfsTer?) c.1548del (p.Ala517ProfsTer?) c.1257del (p.Ala420ProfsTer?) c.1185del (p.Ala396ProfsTer?) n.2051del n.1990del n.1944del | gnomAD v4 |
2 | g.25244293A= | CA1239263000 | DNMT3A | c.32T= c.859T= (n.859T=) c.1044T= (p.Ala348=) c.1713T= (p.Ala571=) c.1146T= (p.Ala382=) n.32T= c.1269T= (p.Ala423=) c.1566T= (p.Ala522=) c.1548T= (p.Ala516=) c.1257T= (p.Ala419=) c.1185T= (p.Ala395=) n.2051T= n.1990T= n.1944T= | |
2 | g.25244293A>C | CA425182582 | DNMT3A | c.32T>G c.859T>G (n.859T>G) c.1044T>G (p.Ala348=) c.1713T>G (p.Ala571=) c.1146T>G (p.Ala382=) n.32T>G c.1269T>G (p.Ala423=) c.1566T>G (p.Ala522=) c.1548T>G (p.Ala516=) c.1257T>G (p.Ala419=) c.1185T>G (p.Ala395=) n.2051T>G n.1990T>G n.1944T>G | dbSNP |
2 | g.25244293A>G | CA425182584 | DNMT3A | c.32T>C c.859T>C (n.859T>C) c.1044T>C (p.Ala348=) c.1713T>C (p.Ala571=) c.1146T>C (p.Ala382=) n.32T>C c.1269T>C (p.Ala423=) c.1566T>C (p.Ala522=) c.1548T>C (p.Ala516=) c.1257T>C (p.Ala419=) c.1185T>C (p.Ala395=) n.2051T>C n.1990T>C n.1944T>C | |
2 | g.25244293A>T | CA425182586 | DNMT3A | c.32T>A c.859T>A (n.859T>A) c.1044T>A (p.Ala348=) c.1713T>A (p.Ala571=) c.1146T>A (p.Ala382=) n.32T>A c.1269T>A (p.Ala423=) c.1566T>A (p.Ala522=) c.1548T>A (p.Ala516=) c.1257T>A (p.Ala419=) c.1185T>A (p.Ala395=) n.2051T>A n.1990T>A n.1944T>A | |
2 | g.25244293_25244303delinsAGCCCCCGGCC | CA1239263001 | DNMT3A | c.22_32delinsGGCCGGGGGCT c.849_859delinsGGCCGGGGGCT (n.849_859delinsGGCCGGGGGCT) c.1034_1044delinsGGCCGGGGGCT (p.Gly345=) c.1703_1713delinsGGCCGGGGGCT (p.Gly568=) c.1136_1146delinsGGCCGGGGGCT (p.Gly379=) n.22_32delinsGGCCGGGGGCT c.1259_1269delinsGGCCGGGGGCT (p.Gly420=) c.1556_1566delinsGGCCGGGGGCT (p.Gly519=) c.1538_1548delinsGGCCGGGGGCT (p.Gly513=) c.1247_1257delinsGGCCGGGGGCT (p.Gly416=) c.1175_1185delinsGGCCGGGGGCT (p.Gly392=) n.2041_2051delinsGGCCGGGGGCT n.1980_1990delinsGGCCGGGGGCT n.1934_1944delinsGGCCGGGGGCT |