UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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 |