Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118488713_118488715dupCA2739291561KMT2Ac.4531_4533dup (p.Arg1511_Cys1512insArg)
c.343_345dup (p.Arg115_Cys116insArg)
c.211_213dup (p.Arg71_Cys72insArg)
c.4432_4434dup (p.Arg1478_Cys1479insArg)
c.4318_4320dup (p.Arg1440_Cys1441insArg)
c.568_570dup (p.Arg190_Cys191insArg)
c.1915_1917dup (p.Arg639_Cys640insArg)
c.2338_2340dup (p.Arg780_Cys781insArg)
c.2014_2016dup (p.Arg672_Cys673insArg)
11g.118488713_118488715delCA645589852KMT2Ac.4531_4533del (p.Arg1511del)
c.343_345del (p.Arg115del)
c.211_213del (p.Arg71del)
c.4432_4434del (p.Arg1478del)
c.4318_4320del (p.Arg1440del)
c.568_570del (p.Arg190del)
c.1915_1917del (p.Arg639del)
c.2338_2340del (p.Arg780del)
c.2014_2016del (p.Arg672del)
 ClinVar dbSNP COSMIC COSMIC
11g.118488713_118488714delinsCGCA2003517697KMT2Ac.4531_4532delinsCG (p.Arg1511=)
c.343_344delinsCG (p.Arg115=)
c.211_212delinsCG (p.Arg71=)
c.4432_4433delinsCG (p.Arg1478=)
c.4318_4319delinsCG (p.Arg1440=)
c.568_569delinsCG (p.Arg190=)
c.1915_1916delinsCG (p.Arg639=)
c.2338_2339delinsCG (p.Arg780=)
c.2014_2015delinsCG (p.Arg672=)
11g.118488714delCA16619277KMT2Ac.4532del (p.Arg1511LeufsTer?)
c.344del (p.Arg115LeufsTer?)
c.212del (p.Arg71LeufsTer?)
c.4433del (p.Arg1478LeufsTer?)
c.4319del (p.Arg1440LeufsTer?)
c.569del (p.Arg190LeufsTer?)
c.1916del (p.Arg639LeufsTer?)
c.2339del (p.Arg780LeufsTer?)
c.2015del (p.Arg672LeufsTer?)
 ClinVar dbSNP
11g.118488714G>ACA382832608KMT2Ac.4532G>A (p.Arg1511His)
c.344G>A (p.Arg115His)
c.212G>A (p.Arg71His)
c.4433G>A (p.Arg1478His)
c.4319G>A (p.Arg1440His)
c.569G>A (p.Arg190His)
c.1916G>A (p.Arg639His)
c.2339G>A (p.Arg780His)
c.2015G>A (p.Arg672His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118488714G>CCA382832617KMT2Ac.4532G>C (p.Arg1511Pro)
c.344G>C (p.Arg115Pro)
c.212G>C (p.Arg71Pro)
c.4433G>C (p.Arg1478Pro)
c.4319G>C (p.Arg1440Pro)
c.569G>C (p.Arg190Pro)
c.1916G>C (p.Arg639Pro)
c.2339G>C (p.Arg780Pro)
c.2015G>C (p.Arg672Pro)
11g.118488714G=CA2003517700KMT2Ac.4532G= (p.Arg1511=)
c.344G= (p.Arg115=)
c.212G= (p.Arg71=)
c.4433G= (p.Arg1478=)
c.4319G= (p.Arg1440=)
c.569G= (p.Arg190=)
c.1916G= (p.Arg639=)
c.2339G= (p.Arg780=)
c.2015G= (p.Arg672=)
11g.118488714G>TCA382832634KMT2Ac.4532G>T (p.Arg1511Leu)
c.344G>T (p.Arg115Leu)
c.212G>T (p.Arg71Leu)
c.4433G>T (p.Arg1478Leu)
c.4319G>T (p.Arg1440Leu)
c.569G>T (p.Arg190Leu)
c.1916G>T (p.Arg639Leu)
c.2339G>T (p.Arg780Leu)
c.2015G>T (p.Arg672Leu)
 gnomAD v4
11g.118488715T>ACA477089576KMT2Ac.4533T>A (p.Arg1511=)
c.345T>A (p.Arg115=)
c.213T>A (p.Arg71=)
c.4434T>A (p.Arg1478=)
c.4320T>A (p.Arg1440=)
c.570T>A (p.Arg190=)
c.1917T>A (p.Arg639=)
c.2340T>A (p.Arg780=)
c.2016T>A (p.Arg672=)
11g.118488715T>CCA477089577KMT2Ac.4533T>C (p.Arg1511=)
c.345T>C (p.Arg115=)
c.213T>C (p.Arg71=)
c.4434T>C (p.Arg1478=)
c.4320T>C (p.Arg1440=)
c.570T>C (p.Arg190=)
c.1917T>C (p.Arg639=)
c.2340T>C (p.Arg780=)
c.2016T>C (p.Arg672=)
 dbSNP gnomAD v2 gnomAD v4
11g.118488715T>GCA477089578KMT2Ac.4533T>G (p.Arg1511=)
c.345T>G (p.Arg115=)
c.213T>G (p.Arg71=)
c.4434T>G (p.Arg1478=)
c.4320T>G (p.Arg1440=)
c.570T>G (p.Arg190=)
c.1917T>G (p.Arg639=)
c.2340T>G (p.Arg780=)
c.2016T>G (p.Arg672=)
11g.118488715T=CA2003517702KMT2Ac.4533T= (p.Arg1511=)
c.345T= (p.Arg115=)
c.213T= (p.Arg71=)
c.4434T= (p.Arg1478=)
c.4320T= (p.Arg1440=)
c.570T= (p.Arg190=)
c.1917T= (p.Arg639=)
c.2340T= (p.Arg780=)
c.2016T= (p.Arg672=)
11g.118488716T>ACA382832650KMT2Ac.4534T>A (p.Cys1512Ser)
c.346T>A (p.Cys116Ser)
c.214T>A (p.Cys72Ser)
c.4435T>A (p.Cys1479Ser)
c.4321T>A (p.Cys1441Ser)
c.571T>A (p.Cys191Ser)
c.1918T>A (p.Cys640Ser)
c.2341T>A (p.Cys781Ser)
c.2017T>A (p.Cys673Ser)
11g.118488716T>CCA382832636KMT2Ac.4534T>C (p.Cys1512Arg)
c.346T>C (p.Cys116Arg)
c.214T>C (p.Cys72Arg)
c.4435T>C (p.Cys1479Arg)
c.4321T>C (p.Cys1441Arg)
c.571T>C (p.Cys191Arg)
c.1918T>C (p.Cys640Arg)
c.2341T>C (p.Cys781Arg)
c.2017T>C (p.Cys673Arg)
 ClinVar dbSNP
11g.118488716T>GCA382832640KMT2Ac.4534T>G (p.Cys1512Gly)
c.346T>G (p.Cys116Gly)
c.214T>G (p.Cys72Gly)
c.4435T>G (p.Cys1479Gly)
c.4321T>G (p.Cys1441Gly)
c.571T>G (p.Cys191Gly)
c.1918T>G (p.Cys640Gly)
c.2341T>G (p.Cys781Gly)
c.2017T>G (p.Cys673Gly)
11g.118488717G>ACA382832658KMT2Ac.4535G>A (p.Cys1512Tyr)
c.347G>A (p.Cys116Tyr)
c.215G>A (p.Cys72Tyr)
c.4436G>A (p.Cys1479Tyr)
c.4322G>A (p.Cys1441Tyr)
c.572G>A (p.Cys191Tyr)
c.1919G>A (p.Cys640Tyr)
c.2342G>A (p.Cys781Tyr)
c.2018G>A (p.Cys673Tyr)
 dbSNP
11g.118488717G>CCA382832660KMT2Ac.4535G>C (p.Cys1512Ser)
c.347G>C (p.Cys116Ser)
c.215G>C (p.Cys72Ser)
c.4436G>C (p.Cys1479Ser)
c.4322G>C (p.Cys1441Ser)
c.572G>C (p.Cys191Ser)
c.1919G>C (p.Cys640Ser)
c.2342G>C (p.Cys781Ser)
c.2018G>C (p.Cys673Ser)
11g.118488717G>TCA382832662KMT2Ac.4535G>T (p.Cys1512Phe)
c.347G>T (p.Cys116Phe)
c.215G>T (p.Cys72Phe)
c.4436G>T (p.Cys1479Phe)
c.4322G>T (p.Cys1441Phe)
c.572G>T (p.Cys191Phe)
c.1919G>T (p.Cys640Phe)
c.2342G>T (p.Cys781Phe)
c.2018G>T (p.Cys673Phe)
11g.118488718C>ACA382832665KMT2Ac.4536C>A (p.Cys1512Ter)
c.348C>A (p.Cys116Ter)
c.216C>A (p.Cys72Ter)
c.4437C>A (p.Cys1479Ter)
c.4323C>A (p.Cys1441Ter)
c.573C>A (p.Cys191Ter)
c.1920C>A (p.Cys640Ter)
c.2343C>A (p.Cys781Ter)
c.2019C>A (p.Cys673Ter)
 COSMIC COSMIC
11g.118488718C>GCA382832667KMT2Ac.4536C>G (p.Cys1512Trp)
c.348C>G (p.Cys116Trp)
c.216C>G (p.Cys72Trp)
c.4437C>G (p.Cys1479Trp)
c.4323C>G (p.Cys1441Trp)
c.573C>G (p.Cys191Trp)
c.1920C>G (p.Cys640Trp)
c.2343C>G (p.Cys781Trp)
c.2019C>G (p.Cys673Trp)
 COSMIC COSMIC
11g.118488718C>TCA477089579KMT2Ac.4536C>T (p.Cys1512=)
c.348C>T (p.Cys116=)
c.216C>T (p.Cys72=)
c.4437C>T (p.Cys1479=)
c.4323C>T (p.Cys1441=)
c.573C>T (p.Cys191=)
c.1920C>T (p.Cys640=)
c.2343C>T (p.Cys781=)
c.2019C>T (p.Cys673=)
 dbSNP
11g.118488719A>CCA382832671KMT2Ac.4537A>C (p.Lys1513Gln)
c.349A>C (p.Lys117Gln)
c.217A>C (p.Lys73Gln)
c.4438A>C (p.Lys1480Gln)
c.4324A>C (p.Lys1442Gln)
c.574A>C (p.Lys192Gln)
c.1921A>C (p.Lys641Gln)
c.2344A>C (p.Lys782Gln)
c.2020A>C (p.Lys674Gln)
11g.118488719A>GCA382832674KMT2Ac.4537A>G (p.Lys1513Glu)
c.349A>G (p.Lys117Glu)
c.217A>G (p.Lys73Glu)
c.4438A>G (p.Lys1480Glu)
c.4324A>G (p.Lys1442Glu)
c.574A>G (p.Lys192Glu)
c.1921A>G (p.Lys641Glu)
c.2344A>G (p.Lys782Glu)
c.2020A>G (p.Lys674Glu)
 COSMIC COSMIC
11g.118488719A>TCA382832673KMT2Ac.4537A>T (p.Lys1513Ter)
c.349A>T (p.Lys117Ter)
c.217A>T (p.Lys73Ter)
c.4438A>T (p.Lys1480Ter)
c.4324A>T (p.Lys1442Ter)
c.574A>T (p.Lys192Ter)
c.1921A>T (p.Lys641Ter)
c.2344A>T (p.Lys782Ter)
c.2020A>T (p.Lys674Ter)
11g.118488720A>CCA382832677KMT2Ac.4538A>C (p.Lys1513Thr)
c.350A>C (p.Lys117Thr)
c.218A>C (p.Lys73Thr)
c.4439A>C (p.Lys1480Thr)
c.4325A>C (p.Lys1442Thr)
c.575A>C (p.Lys192Thr)
c.1922A>C (p.Lys641Thr)
c.2345A>C (p.Lys782Thr)
c.2021A>C (p.Lys674Thr)
11g.118488720A>GCA382832680KMT2Ac.4538A>G (p.Lys1513Arg)
c.350A>G (p.Lys117Arg)
c.218A>G (p.Lys73Arg)
c.4439A>G (p.Lys1480Arg)
c.4325A>G (p.Lys1442Arg)
c.575A>G (p.Lys192Arg)
c.1922A>G (p.Lys641Arg)
c.2345A>G (p.Lys782Arg)
c.2021A>G (p.Lys674Arg)
11g.118488720A>TCA382832686KMT2Ac.4538A>T (p.Lys1513Ile)
c.350A>T (p.Lys117Ile)
c.218A>T (p.Lys73Ile)
c.4439A>T (p.Lys1480Ile)
c.4325A>T (p.Lys1442Ile)
c.575A>T (p.Lys192Ile)
c.1922A>T (p.Lys641Ile)
c.2345A>T (p.Lys782Ile)
c.2021A>T (p.Lys674Ile)
11g.118488721A>CCA382832689KMT2Ac.4539A>C (p.Lys1513Asn)
c.351A>C (p.Lys117Asn)
c.219A>C (p.Lys73Asn)
c.4440A>C (p.Lys1480Asn)
c.4326A>C (p.Lys1442Asn)
c.576A>C (p.Lys192Asn)
c.1923A>C (p.Lys641Asn)
c.2346A>C (p.Lys782Asn)
c.2022A>C (p.Lys674Asn)
11g.118488721A>GCA477089580KMT2Ac.4539A>G (p.Lys1513=)
c.351A>G (p.Lys117=)
c.219A>G (p.Lys73=)
c.4440A>G (p.Lys1480=)
c.4326A>G (p.Lys1442=)
c.576A>G (p.Lys192=)
c.1923A>G (p.Lys641=)
c.2346A>G (p.Lys782=)
c.2022A>G (p.Lys674=)
11g.118488721A>TCA382832698KMT2Ac.4539A>T (p.Lys1513Asn)
c.351A>T (p.Lys117Asn)
c.219A>T (p.Lys73Asn)
c.4440A>T (p.Lys1480Asn)
c.4326A>T (p.Lys1442Asn)
c.576A>T (p.Lys192Asn)
c.1923A>T (p.Lys641Asn)
c.2346A>T (p.Lys782Asn)
c.2022A>T (p.Lys674Asn)
11g.118488722T>ACA382832701KMT2Ac.4540T>A (p.Phe1514Ile)
c.352T>A (p.Phe118Ile)
c.220T>A (p.Phe74Ile)
c.4441T>A (p.Phe1481Ile)
c.4327T>A (p.Phe1443Ile)
c.577T>A (p.Phe193Ile)
c.1924T>A (p.Phe642Ile)
c.2347T>A (p.Phe783Ile)
c.2023T>A (p.Phe675Ile)
11g.118488722T>CCA382832707KMT2Ac.4540T>C (p.Phe1514Leu)
c.352T>C (p.Phe118Leu)
c.220T>C (p.Phe74Leu)
c.4441T>C (p.Phe1481Leu)
c.4327T>C (p.Phe1443Leu)
c.577T>C (p.Phe193Leu)
c.1924T>C (p.Phe642Leu)
c.2347T>C (p.Phe783Leu)
c.2023T>C (p.Phe675Leu)
11g.118488722T>GCA382832709KMT2Ac.4540T>G (p.Phe1514Val)
c.352T>G (p.Phe118Val)
c.220T>G (p.Phe74Val)
c.4441T>G (p.Phe1481Val)
c.4327T>G (p.Phe1443Val)
c.577T>G (p.Phe193Val)
c.1924T>G (p.Phe642Val)
c.2347T>G (p.Phe783Val)
c.2023T>G (p.Phe675Val)
11g.118488723T>ACA382832712KMT2Ac.4541T>A (p.Phe1514Tyr)
c.353T>A (p.Phe118Tyr)
c.221T>A (p.Phe74Tyr)
c.4442T>A (p.Phe1481Tyr)
c.4328T>A (p.Phe1443Tyr)
c.578T>A (p.Phe193Tyr)
c.1925T>A (p.Phe642Tyr)
c.2348T>A (p.Phe783Tyr)
c.2024T>A (p.Phe675Tyr)
11g.118488723T>CCA382832714KMT2Ac.4541T>C (p.Phe1514Ser)
c.353T>C (p.Phe118Ser)
c.221T>C (p.Phe74Ser)
c.4442T>C (p.Phe1481Ser)
c.4328T>C (p.Phe1443Ser)
c.578T>C (p.Phe193Ser)
c.1925T>C (p.Phe642Ser)
c.2348T>C (p.Phe783Ser)
c.2024T>C (p.Phe675Ser)
11g.118488723T>GCA382832717KMT2Ac.4541T>G (p.Phe1514Cys)
c.353T>G (p.Phe118Cys)
c.221T>G (p.Phe74Cys)
c.4442T>G (p.Phe1481Cys)
c.4328T>G (p.Phe1443Cys)
c.578T>G (p.Phe193Cys)
c.1925T>G (p.Phe642Cys)
c.2348T>G (p.Phe783Cys)
c.2024T>G (p.Phe675Cys)
11g.118488724C>ACA382832719KMT2Ac.4542C>A (p.Phe1514Leu)
c.354C>A (p.Phe118Leu)
c.222C>A (p.Phe74Leu)
c.4443C>A (p.Phe1481Leu)
c.4329C>A (p.Phe1443Leu)
c.579C>A (p.Phe193Leu)
c.1926C>A (p.Phe642Leu)
c.2349C>A (p.Phe783Leu)
c.2025C>A (p.Phe675Leu)
11g.118488724C=CA2003517704KMT2Ac.4542C= (p.Phe1514=)
c.354C= (p.Phe118=)
c.222C= (p.Phe74=)
c.4443C= (p.Phe1481=)
c.4329C= (p.Phe1443=)
c.579C= (p.Phe193=)
c.1926C= (p.Phe642=)
c.2349C= (p.Phe783=)
c.2025C= (p.Phe675=)
11g.118488724C>GCA382832720KMT2Ac.4542C>G (p.Phe1514Leu)
c.354C>G (p.Phe118Leu)
c.222C>G (p.Phe74Leu)
c.4443C>G (p.Phe1481Leu)
c.4329C>G (p.Phe1443Leu)
c.579C>G (p.Phe193Leu)
c.1926C>G (p.Phe642Leu)
c.2349C>G (p.Phe783Leu)
c.2025C>G (p.Phe675Leu)
 dbSNP
11g.118488724C>TCA477089581KMT2Ac.4542C>T (p.Phe1514=)
c.354C>T (p.Phe118=)
c.222C>T (p.Phe74=)
c.4443C>T (p.Phe1481=)
c.4329C>T (p.Phe1443=)
c.579C>T (p.Phe193=)
c.1926C>T (p.Phe642=)
c.2349C>T (p.Phe783=)
c.2025C>T (p.Phe675=)
 dbSNP
11g.118488725T>ACA382832721KMT2Ac.4543T>A (p.Cys1515Ser)
c.355T>A (p.Cys119Ser)
c.223T>A (p.Cys75Ser)
c.4444T>A (p.Cys1482Ser)
c.4330T>A (p.Cys1444Ser)
c.580T>A (p.Cys194Ser)
c.1927T>A (p.Cys643Ser)
c.2350T>A (p.Cys784Ser)
c.2026T>A (p.Cys676Ser)
11g.118488725T>CCA382832722KMT2Ac.4543T>C (p.Cys1515Arg)
c.355T>C (p.Cys119Arg)
c.223T>C (p.Cys75Arg)
c.4444T>C (p.Cys1482Arg)
c.4330T>C (p.Cys1444Arg)
c.580T>C (p.Cys194Arg)
c.1927T>C (p.Cys643Arg)
c.2350T>C (p.Cys784Arg)
c.2026T>C (p.Cys676Arg)
11g.118488725T>GCA382832723KMT2Ac.4543T>G (p.Cys1515Gly)
c.355T>G (p.Cys119Gly)
c.223T>G (p.Cys75Gly)
c.4444T>G (p.Cys1482Gly)
c.4330T>G (p.Cys1444Gly)
c.580T>G (p.Cys194Gly)
c.1927T>G (p.Cys643Gly)
c.2350T>G (p.Cys784Gly)
c.2026T>G (p.Cys676Gly)
11g.118488726G>ACA382832724KMT2Ac.4544G>A (p.Cys1515Tyr)
c.356G>A (p.Cys119Tyr)
c.224G>A (p.Cys75Tyr)
c.4445G>A (p.Cys1482Tyr)
c.4331G>A (p.Cys1444Tyr)
c.581G>A (p.Cys194Tyr)
c.1928G>A (p.Cys643Tyr)
c.2351G>A (p.Cys784Tyr)
c.2027G>A (p.Cys676Tyr)
11g.118488726G>CCA382832725KMT2Ac.4544G>C (p.Cys1515Ser)
c.356G>C (p.Cys119Ser)
c.224G>C (p.Cys75Ser)
c.4445G>C (p.Cys1482Ser)
c.4331G>C (p.Cys1444Ser)
c.581G>C (p.Cys194Ser)
c.1928G>C (p.Cys643Ser)
c.2351G>C (p.Cys784Ser)
c.2027G>C (p.Cys676Ser)
11g.118488726G>TCA382832726KMT2Ac.4544G>T (p.Cys1515Phe)
c.356G>T (p.Cys119Phe)
c.224G>T (p.Cys75Phe)
c.4445G>T (p.Cys1482Phe)
c.4331G>T (p.Cys1444Phe)
c.581G>T (p.Cys194Phe)
c.1928G>T (p.Cys643Phe)
c.2351G>T (p.Cys784Phe)
c.2027G>T (p.Cys676Phe)
11g.118488727T>ACA382832728KMT2Ac.4545T>A (p.Cys1515Ter)
c.357T>A (p.Cys119Ter)
c.225T>A (p.Cys75Ter)
c.4446T>A (p.Cys1482Ter)
c.4332T>A (p.Cys1444Ter)
c.582T>A (p.Cys194Ter)
c.1929T>A (p.Cys643Ter)
c.2352T>A (p.Cys784Ter)
c.2028T>A (p.Cys676Ter)
11g.118488727T>CCA477089582KMT2Ac.4545T>C (p.Cys1515=)
c.357T>C (p.Cys119=)
c.225T>C (p.Cys75=)
c.4446T>C (p.Cys1482=)
c.4332T>C (p.Cys1444=)
c.582T>C (p.Cys194=)
c.1929T>C (p.Cys643=)
c.2352T>C (p.Cys784=)
c.2028T>C (p.Cys676=)
 dbSNP COSMIC COSMIC
11g.118488727T>GCA382832727KMT2Ac.4545T>G (p.Cys1515Trp)
c.357T>G (p.Cys119Trp)
c.225T>G (p.Cys75Trp)
c.4446T>G (p.Cys1482Trp)
c.4332T>G (p.Cys1444Trp)
c.582T>G (p.Cys194Trp)
c.1929T>G (p.Cys643Trp)
c.2352T>G (p.Cys784Trp)
c.2028T>G (p.Cys676Trp)
11g.118488727T=CA2003517706KMT2Ac.4545T= (p.Cys1515=)
c.357T= (p.Cys119=)
c.225T= (p.Cys75=)
c.4446T= (p.Cys1482=)
c.4332T= (p.Cys1444=)
c.582T= (p.Cys194=)
c.1929T= (p.Cys643=)
c.2352T= (p.Cys784=)
c.2028T= (p.Cys676=)

Number of alleles fetched