| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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 |