Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118502670G>ACA382802981KMT2Ac.6877G>A (p.Gly2293Arg)
c.6868G>A (p.Gly2290Arg)
c.817G>A (p.Gly273Arg)
c.1075G>A (p.Gly359Arg)
c.6850G>A (p.Gly2284Arg)
c.6769G>A (p.Gly2257Arg)
n.6120G>A
c.6778G>A (p.Gly2260Arg)
c.6655G>A (p.Gly2219Arg)
n.905G>A
c.4261G>A (p.Gly1421Arg)
c.6874G>A (p.Gly2292Arg)
c.4684G>A (p.Gly1562Arg)
c.4360G>A (p.Gly1454Arg)
gnomAD v4
11g.118502670G>CCA382802980KMT2Ac.6877G>C (p.Gly2293Arg)
c.6868G>C (p.Gly2290Arg)
c.817G>C (p.Gly273Arg)
c.1075G>C (p.Gly359Arg)
c.6850G>C (p.Gly2284Arg)
c.6769G>C (p.Gly2257Arg)
n.6120G>C
c.6778G>C (p.Gly2260Arg)
c.6655G>C (p.Gly2219Arg)
n.905G>C
c.4261G>C (p.Gly1421Arg)
c.6874G>C (p.Gly2292Arg)
c.4684G>C (p.Gly1562Arg)
c.4360G>C (p.Gly1454Arg)
11g.118502670G>TCA382802979KMT2Ac.6877G>T (p.Gly2293Trp)
c.6868G>T (p.Gly2290Trp)
c.817G>T (p.Gly273Trp)
c.1075G>T (p.Gly359Trp)
c.6850G>T (p.Gly2284Trp)
c.6769G>T (p.Gly2257Trp)
n.6120G>T
c.6778G>T (p.Gly2260Trp)
c.6655G>T (p.Gly2219Trp)
n.905G>T
c.4261G>T (p.Gly1421Trp)
c.6874G>T (p.Gly2292Trp)
c.4684G>T (p.Gly1562Trp)
c.4360G>T (p.Gly1454Trp)
dbSNP
11g.118502671G>ACA382802982KMT2Ac.6878G>A (p.Gly2293Glu)
c.6869G>A (p.Gly2290Glu)
c.818G>A (p.Gly273Glu)
c.1076G>A (p.Gly359Glu)
c.6851G>A (p.Gly2284Glu)
c.6770G>A (p.Gly2257Glu)
n.6121G>A
c.6779G>A (p.Gly2260Glu)
c.6656G>A (p.Gly2219Glu)
n.906G>A
c.4262G>A (p.Gly1421Glu)
c.6875G>A (p.Gly2292Glu)
c.4685G>A (p.Gly1562Glu)
c.4361G>A (p.Gly1454Glu)
gnomAD v4
11g.118502671G>CCA382802983KMT2Ac.6878G>C (p.Gly2293Ala)
c.6869G>C (p.Gly2290Ala)
c.818G>C (p.Gly273Ala)
c.1076G>C (p.Gly359Ala)
c.6851G>C (p.Gly2284Ala)
c.6770G>C (p.Gly2257Ala)
n.6121G>C
c.6779G>C (p.Gly2260Ala)
c.6656G>C (p.Gly2219Ala)
n.906G>C
c.4262G>C (p.Gly1421Ala)
c.6875G>C (p.Gly2292Ala)
c.4685G>C (p.Gly1562Ala)
c.4361G>C (p.Gly1454Ala)
11g.118502671G>TCA382802984KMT2Ac.6878G>T (p.Gly2293Val)
c.6869G>T (p.Gly2290Val)
c.818G>T (p.Gly273Val)
c.1076G>T (p.Gly359Val)
c.6851G>T (p.Gly2284Val)
c.6770G>T (p.Gly2257Val)
n.6121G>T
c.6779G>T (p.Gly2260Val)
c.6656G>T (p.Gly2219Val)
n.906G>T
c.4262G>T (p.Gly1421Val)
c.6875G>T (p.Gly2292Val)
c.4685G>T (p.Gly1562Val)
c.4361G>T (p.Gly1454Val)
dbSNP
11g.118502672G>ACA477359192KMT2Ac.6879G>A (p.Gly2293=)
c.6870G>A (p.Gly2290=)
c.819G>A (p.Gly273=)
c.1077G>A (p.Gly359=)
c.6852G>A (p.Gly2284=)
c.6771G>A (p.Gly2257=)
n.6122G>A
c.6780G>A (p.Gly2260=)
c.6657G>A (p.Gly2219=)
n.907G>A
c.4263G>A (p.Gly1421=)
c.6876G>A (p.Gly2292=)
c.4686G>A (p.Gly1562=)
c.4362G>A (p.Gly1454=)
dbSNP gnomAD v4
11g.118502672G>CCA477359193KMT2Ac.6879G>C (p.Gly2293=)
c.6870G>C (p.Gly2290=)
c.819G>C (p.Gly273=)
c.1077G>C (p.Gly359=)
c.6852G>C (p.Gly2284=)
c.6771G>C (p.Gly2257=)
n.6122G>C
c.6780G>C (p.Gly2260=)
c.6657G>C (p.Gly2219=)
n.907G>C
c.4263G>C (p.Gly1421=)
c.6876G>C (p.Gly2292=)
c.4686G>C (p.Gly1562=)
c.4362G>C (p.Gly1454=)
11g.118502672G>TCA477359194KMT2Ac.6879G>T (p.Gly2293=)
c.6870G>T (p.Gly2290=)
c.819G>T (p.Gly273=)
c.1077G>T (p.Gly359=)
c.6852G>T (p.Gly2284=)
c.6771G>T (p.Gly2257=)
n.6122G>T
c.6780G>T (p.Gly2260=)
c.6657G>T (p.Gly2219=)
n.907G>T
c.4263G>T (p.Gly1421=)
c.6876G>T (p.Gly2292=)
c.4686G>T (p.Gly1562=)
c.4362G>T (p.Gly1454=)
11g.118502673C>ACA382802985KMT2Ac.6880C>A (p.Gln2294Lys)
c.6871C>A (p.Gln2291Lys)
c.820C>A (p.Gln274Lys)
c.1078C>A (p.Gln360Lys)
c.6853C>A (p.Gln2285Lys)
c.6772C>A (p.Gln2258Lys)
n.6123C>A
c.6781C>A (p.Gln2261Lys)
c.6658C>A (p.Gln2220Lys)
n.908C>A
c.4264C>A (p.Gln1422Lys)
c.6877C>A (p.Gln2293Lys)
c.4687C>A (p.Gln1563Lys)
c.4363C>A (p.Gln1455Lys)
gnomAD v4 COSMIC COSMIC
11g.118502673C>GCA382802986KMT2Ac.6880C>G (p.Gln2294Glu)
c.6871C>G (p.Gln2291Glu)
c.820C>G (p.Gln274Glu)
c.1078C>G (p.Gln360Glu)
c.6853C>G (p.Gln2285Glu)
c.6772C>G (p.Gln2258Glu)
n.6123C>G
c.6781C>G (p.Gln2261Glu)
c.6658C>G (p.Gln2220Glu)
n.908C>G
c.4264C>G (p.Gln1422Glu)
c.6877C>G (p.Gln2293Glu)
c.4687C>G (p.Gln1563Glu)
c.4363C>G (p.Gln1455Glu)
11g.118502673C>TCA382802987KMT2Ac.6880C>T (p.Gln2294Ter)
c.6871C>T (p.Gln2291Ter)
c.820C>T (p.Gln274Ter)
c.1078C>T (p.Gln360Ter)
c.6853C>T (p.Gln2285Ter)
c.6772C>T (p.Gln2258Ter)
n.6123C>T
c.6781C>T (p.Gln2261Ter)
c.6658C>T (p.Gln2220Ter)
n.908C>T
c.4264C>T (p.Gln1422Ter)
c.6877C>T (p.Gln2293Ter)
c.4687C>T (p.Gln1563Ter)
c.4363C>T (p.Gln1455Ter)
11g.118502674A>CCA382802988KMT2Ac.6881A>C (p.Gln2294Pro)
c.6872A>C (p.Gln2291Pro)
c.821A>C (p.Gln274Pro)
c.1079A>C (p.Gln360Pro)
c.6854A>C (p.Gln2285Pro)
c.6773A>C (p.Gln2258Pro)
n.6124A>C
c.6782A>C (p.Gln2261Pro)
c.6659A>C (p.Gln2220Pro)
n.909A>C
c.4265A>C (p.Gln1422Pro)
c.6878A>C (p.Gln2293Pro)
c.4688A>C (p.Gln1563Pro)
c.4364A>C (p.Gln1455Pro)
11g.118502674A>GCA382802989KMT2Ac.6881A>G (p.Gln2294Arg)
c.6872A>G (p.Gln2291Arg)
c.821A>G (p.Gln274Arg)
c.1079A>G (p.Gln360Arg)
c.6854A>G (p.Gln2285Arg)
c.6773A>G (p.Gln2258Arg)
n.6124A>G
c.6782A>G (p.Gln2261Arg)
c.6659A>G (p.Gln2220Arg)
n.909A>G
c.4265A>G (p.Gln1422Arg)
c.6878A>G (p.Gln2293Arg)
c.4688A>G (p.Gln1563Arg)
c.4364A>G (p.Gln1455Arg)
11g.118502674A>TCA382802990KMT2Ac.6881A>T (p.Gln2294Leu)
c.6872A>T (p.Gln2291Leu)
c.821A>T (p.Gln274Leu)
c.1079A>T (p.Gln360Leu)
c.6854A>T (p.Gln2285Leu)
c.6773A>T (p.Gln2258Leu)
n.6124A>T
c.6782A>T (p.Gln2261Leu)
c.6659A>T (p.Gln2220Leu)
n.909A>T
c.4265A>T (p.Gln1422Leu)
c.6878A>T (p.Gln2293Leu)
c.4688A>T (p.Gln1563Leu)
c.4364A>T (p.Gln1455Leu)
dbSNP
11g.118502675A>CCA382802991KMT2Ac.6882A>C (p.Gln2294His)
c.6873A>C (p.Gln2291His)
c.822A>C (p.Gln274His)
c.1080A>C (p.Gln360His)
c.6855A>C (p.Gln2285His)
c.6774A>C (p.Gln2258His)
n.6125A>C
c.6783A>C (p.Gln2261His)
c.6660A>C (p.Gln2220His)
n.910A>C
c.4266A>C (p.Gln1422His)
c.6879A>C (p.Gln2293His)
c.4689A>C (p.Gln1563His)
c.4365A>C (p.Gln1455His)
11g.118502675A>GCA477359195KMT2Ac.6882A>G (p.Gln2294=)
c.6873A>G (p.Gln2291=)
c.822A>G (p.Gln274=)
c.1080A>G (p.Gln360=)
c.6855A>G (p.Gln2285=)
c.6774A>G (p.Gln2258=)
n.6125A>G
c.6783A>G (p.Gln2261=)
c.6660A>G (p.Gln2220=)
n.910A>G
c.4266A>G (p.Gln1422=)
c.6879A>G (p.Gln2293=)
c.4689A>G (p.Gln1563=)
c.4365A>G (p.Gln1455=)
11g.118502675A>TCA382802992KMT2Ac.6882A>T (p.Gln2294His)
c.6873A>T (p.Gln2291His)
c.822A>T (p.Gln274His)
c.1080A>T (p.Gln360His)
c.6855A>T (p.Gln2285His)
c.6774A>T (p.Gln2258His)
n.6125A>T
c.6783A>T (p.Gln2261His)
c.6660A>T (p.Gln2220His)
n.910A>T
c.4266A>T (p.Gln1422His)
c.6879A>T (p.Gln2293His)
c.4689A>T (p.Gln1563His)
c.4365A>T (p.Gln1455His)
11g.118502676A>CCA382802994KMT2Ac.6883A>C (p.Asn2295His)
c.6874A>C (p.Asn2292His)
c.823A>C (p.Asn275His)
c.1081A>C (p.Asn361His)
c.6856A>C (p.Asn2286His)
c.6775A>C (p.Asn2259His)
n.6126A>C
c.6784A>C (p.Asn2262His)
c.6661A>C (p.Asn2221His)
n.911A>C
c.4267A>C (p.Asn1423His)
c.6880A>C (p.Asn2294His)
c.4690A>C (p.Asn1564His)
c.4366A>C (p.Asn1456His)
11g.118502676A>GCA382802995KMT2Ac.6883A>G (p.Asn2295Asp)
c.6874A>G (p.Asn2292Asp)
c.823A>G (p.Asn275Asp)
c.1081A>G (p.Asn361Asp)
c.6856A>G (p.Asn2286Asp)
c.6775A>G (p.Asn2259Asp)
n.6126A>G
c.6784A>G (p.Asn2262Asp)
c.6661A>G (p.Asn2221Asp)
n.911A>G
c.4267A>G (p.Asn1423Asp)
c.6880A>G (p.Asn2294Asp)
c.4690A>G (p.Asn1564Asp)
c.4366A>G (p.Asn1456Asp)
11g.118502676A>TCA382802993KMT2Ac.6883A>T (p.Asn2295Tyr)
c.6874A>T (p.Asn2292Tyr)
c.823A>T (p.Asn275Tyr)
c.1081A>T (p.Asn361Tyr)
c.6856A>T (p.Asn2286Tyr)
c.6775A>T (p.Asn2259Tyr)
n.6126A>T
c.6784A>T (p.Asn2262Tyr)
c.6661A>T (p.Asn2221Tyr)
n.911A>T
c.4267A>T (p.Asn1423Tyr)
c.6880A>T (p.Asn2294Tyr)
c.4690A>T (p.Asn1564Tyr)
c.4366A>T (p.Asn1456Tyr)
11g.118502677A>CCA382802996KMT2Ac.6884A>C (p.Asn2295Thr)
c.6875A>C (p.Asn2292Thr)
c.824A>C (p.Asn275Thr)
c.1082A>C (p.Asn361Thr)
c.6857A>C (p.Asn2286Thr)
c.6776A>C (p.Asn2259Thr)
n.6127A>C
c.6785A>C (p.Asn2262Thr)
c.6662A>C (p.Asn2221Thr)
n.912A>C
c.4268A>C (p.Asn1423Thr)
c.6881A>C (p.Asn2294Thr)
c.4691A>C (p.Asn1564Thr)
c.4367A>C (p.Asn1456Thr)
11g.118502677A>GCA382802997KMT2Ac.6884A>G (p.Asn2295Ser)
c.6875A>G (p.Asn2292Ser)
c.824A>G (p.Asn275Ser)
c.1082A>G (p.Asn361Ser)
c.6857A>G (p.Asn2286Ser)
c.6776A>G (p.Asn2259Ser)
n.6127A>G
c.6785A>G (p.Asn2262Ser)
c.6662A>G (p.Asn2221Ser)
n.912A>G
c.4268A>G (p.Asn1423Ser)
c.6881A>G (p.Asn2294Ser)
c.4691A>G (p.Asn1564Ser)
c.4367A>G (p.Asn1456Ser)
11g.118502677A>TCA382802998KMT2Ac.6884A>T (p.Asn2295Ile)
c.6875A>T (p.Asn2292Ile)
c.824A>T (p.Asn275Ile)
c.1082A>T (p.Asn361Ile)
c.6857A>T (p.Asn2286Ile)
c.6776A>T (p.Asn2259Ile)
n.6127A>T
c.6785A>T (p.Asn2262Ile)
c.6662A>T (p.Asn2221Ile)
n.912A>T
c.4268A>T (p.Asn1423Ile)
c.6881A>T (p.Asn2294Ile)
c.4691A>T (p.Asn1564Ile)
c.4367A>T (p.Asn1456Ile)
11g.118502679_118502680delCA2695215545KMT2Ac.6886_6887del (p.Thr2296PhefsTer16)
c.6877_6878del (p.Thr2293PhefsTer16)
c.826_827del (p.Thr276PhefsTer16)
c.1084_1085del (p.Thr362PhefsTer16)
c.6859_6860del (p.Thr2287PhefsTer16)
c.6778_6779del (p.Thr2260PhefsTer16)
n.6129_6130del
c.6787_6788del (p.Thr2263PhefsTer16)
c.6664_6665del (p.Thr2222PhefsTer16)
n.914_915del
c.4270_4271del (p.Thr1424PhefsTer16)
c.6883_6884del (p.Thr2295PhefsTer16)
c.4693_4694del (p.Thr1565PhefsTer16)
c.4369_4370del (p.Thr1457PhefsTer16)
11g.118502678C>ACA382802999KMT2Ac.6885C>A (p.Asn2295Lys)
c.6876C>A (p.Asn2292Lys)
c.825C>A (p.Asn275Lys)
c.1083C>A (p.Asn361Lys)
c.6858C>A (p.Asn2286Lys)
c.6777C>A (p.Asn2259Lys)
n.6128C>A
c.6786C>A (p.Asn2262Lys)
c.6663C>A (p.Asn2221Lys)
n.913C>A
c.4269C>A (p.Asn1423Lys)
c.6882C>A (p.Asn2294Lys)
c.4692C>A (p.Asn1564Lys)
c.4368C>A (p.Asn1456Lys)
11g.118502678C=CA2003526625KMT2Ac.6885C= (p.Asn2295=)
c.6876C= (p.Asn2292=)
c.825C= (p.Asn275=)
c.1083C= (p.Asn361=)
c.6858C= (p.Asn2286=)
c.6777C= (p.Asn2259=)
n.6128C=
c.6786C= (p.Asn2262=)
c.6663C= (p.Asn2221=)
n.913C=
c.4269C= (p.Asn1423=)
c.6882C= (p.Asn2294=)
c.4692C= (p.Asn1564=)
c.4368C= (p.Asn1456=)
11g.118502678C>GCA382803000KMT2Ac.6885C>G (p.Asn2295Lys)
c.6876C>G (p.Asn2292Lys)
c.825C>G (p.Asn275Lys)
c.1083C>G (p.Asn361Lys)
c.6858C>G (p.Asn2286Lys)
c.6777C>G (p.Asn2259Lys)
n.6128C>G
c.6786C>G (p.Asn2262Lys)
c.6663C>G (p.Asn2221Lys)
n.913C>G
c.4269C>G (p.Asn1423Lys)
c.6882C>G (p.Asn2294Lys)
c.4692C>G (p.Asn1564Lys)
c.4368C>G (p.Asn1456Lys)
gnomAD v4
11g.118502678C>TCA6304309KMT2Ac.6885C>T (p.Asn2295=)
c.6876C>T (p.Asn2292=)
c.825C>T (p.Asn275=)
c.1083C>T (p.Asn361=)
c.6858C>T (p.Asn2286=)
c.6777C>T (p.Asn2259=)
n.6128C>T
c.6786C>T (p.Asn2262=)
c.6663C>T (p.Asn2221=)
n.913C>T
c.4269C>T (p.Asn1423=)
c.6882C>T (p.Asn2294=)
c.4692C>T (p.Asn1564=)
c.4368C>T (p.Asn1456=)
dbSNP ExAC gnomAD v2
11g.118502679A>CCA382803001KMT2Ac.6886A>C (p.Thr2296Pro)
c.6877A>C (p.Thr2293Pro)
c.826A>C (p.Thr276Pro)
c.1084A>C (p.Thr362Pro)
c.6859A>C (p.Thr2287Pro)
c.6778A>C (p.Thr2260Pro)
n.6129A>C
c.6787A>C (p.Thr2263Pro)
c.6664A>C (p.Thr2222Pro)
n.914A>C
c.4270A>C (p.Thr1424Pro)
c.6883A>C (p.Thr2295Pro)
c.4693A>C (p.Thr1565Pro)
c.4369A>C (p.Thr1457Pro)
11g.118502679A>GCA382803002KMT2Ac.6886A>G (p.Thr2296Ala)
c.6877A>G (p.Thr2293Ala)
c.826A>G (p.Thr276Ala)
c.1084A>G (p.Thr362Ala)
c.6859A>G (p.Thr2287Ala)
c.6778A>G (p.Thr2260Ala)
n.6129A>G
c.6787A>G (p.Thr2263Ala)
c.6664A>G (p.Thr2222Ala)
n.914A>G
c.4270A>G (p.Thr1424Ala)
c.6883A>G (p.Thr2295Ala)
c.4693A>G (p.Thr1565Ala)
c.4369A>G (p.Thr1457Ala)
11g.118502679A>TCA382803003KMT2Ac.6886A>T (p.Thr2296Ser)
c.6877A>T (p.Thr2293Ser)
c.826A>T (p.Thr276Ser)
c.1084A>T (p.Thr362Ser)
c.6859A>T (p.Thr2287Ser)
c.6778A>T (p.Thr2260Ser)
n.6129A>T
c.6787A>T (p.Thr2263Ser)
c.6664A>T (p.Thr2222Ser)
n.914A>T
c.4270A>T (p.Thr1424Ser)
c.6883A>T (p.Thr2295Ser)
c.4693A>T (p.Thr1565Ser)
c.4369A>T (p.Thr1457Ser)
11g.118502680C>ACA382803004KMT2Ac.6887C>A (p.Thr2296Asn)
c.6878C>A (p.Thr2293Asn)
c.827C>A (p.Thr276Asn)
c.1085C>A (p.Thr362Asn)
c.6860C>A (p.Thr2287Asn)
c.6779C>A (p.Thr2260Asn)
n.6130C>A
c.6788C>A (p.Thr2263Asn)
c.6665C>A (p.Thr2222Asn)
n.915C>A
c.4271C>A (p.Thr1424Asn)
c.6884C>A (p.Thr2295Asn)
c.4694C>A (p.Thr1565Asn)
c.4370C>A (p.Thr1457Asn)
dbSNP gnomAD v4
11g.118502680C=CA2003526631KMT2Ac.6887C= (p.Thr2296=)
c.6878C= (p.Thr2293=)
c.827C= (p.Thr276=)
c.1085C= (p.Thr362=)
c.6860C= (p.Thr2287=)
c.6779C= (p.Thr2260=)
n.6130C=
c.6788C= (p.Thr2263=)
c.6665C= (p.Thr2222=)
n.915C=
c.4271C= (p.Thr1424=)
c.6884C= (p.Thr2295=)
c.4694C= (p.Thr1565=)
c.4370C= (p.Thr1457=)
11g.118502680C>GCA382803005KMT2Ac.6887C>G (p.Thr2296Ser)
c.6878C>G (p.Thr2293Ser)
c.827C>G (p.Thr276Ser)
c.1085C>G (p.Thr362Ser)
c.6860C>G (p.Thr2287Ser)
c.6779C>G (p.Thr2260Ser)
n.6130C>G
c.6788C>G (p.Thr2263Ser)
c.6665C>G (p.Thr2222Ser)
n.915C>G
c.4271C>G (p.Thr1424Ser)
c.6884C>G (p.Thr2295Ser)
c.4694C>G (p.Thr1565Ser)
c.4370C>G (p.Thr1457Ser)
11g.118502680C>TCA6304310KMT2Ac.6887C>T (p.Thr2296Ile)
c.6878C>T (p.Thr2293Ile)
c.827C>T (p.Thr276Ile)
c.1085C>T (p.Thr362Ile)
c.6860C>T (p.Thr2287Ile)
c.6779C>T (p.Thr2260Ile)
n.6130C>T
c.6788C>T (p.Thr2263Ile)
c.6665C>T (p.Thr2222Ile)
n.915C>T
c.4271C>T (p.Thr1424Ile)
c.6884C>T (p.Thr2295Ile)
c.4694C>T (p.Thr1565Ile)
c.4370C>T (p.Thr1457Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502681T>ACA477359196KMT2Ac.6888T>A (p.Thr2296=)
c.6879T>A (p.Thr2293=)
c.828T>A (p.Thr276=)
c.1086T>A (p.Thr362=)
c.6861T>A (p.Thr2287=)
c.6780T>A (p.Thr2260=)
n.6131T>A
c.6789T>A (p.Thr2263=)
c.6666T>A (p.Thr2222=)
n.916T>A
c.4272T>A (p.Thr1424=)
c.6885T>A (p.Thr2295=)
c.4695T>A (p.Thr1565=)
c.4371T>A (p.Thr1457=)
11g.118502681T>CCA477359197KMT2Ac.6888T>C (p.Thr2296=)
c.6879T>C (p.Thr2293=)
c.828T>C (p.Thr276=)
c.1086T>C (p.Thr362=)
c.6861T>C (p.Thr2287=)
c.6780T>C (p.Thr2260=)
n.6131T>C
c.6789T>C (p.Thr2263=)
c.6666T>C (p.Thr2222=)
n.916T>C
c.4272T>C (p.Thr1424=)
c.6885T>C (p.Thr2295=)
c.4695T>C (p.Thr1565=)
c.4371T>C (p.Thr1457=)
11g.118502681T>GCA477359198KMT2Ac.6888T>G (p.Thr2296=)
c.6879T>G (p.Thr2293=)
c.828T>G (p.Thr276=)
c.1086T>G (p.Thr362=)
c.6861T>G (p.Thr2287=)
c.6780T>G (p.Thr2260=)
n.6131T>G
c.6789T>G (p.Thr2263=)
c.6666T>G (p.Thr2222=)
n.916T>G
c.4272T>G (p.Thr1424=)
c.6885T>G (p.Thr2295=)
c.4695T>G (p.Thr1565=)
c.4371T>G (p.Thr1457=)
11g.118502682T>ACA382803008KMT2Ac.6889T>A (p.Ser2297Thr)
c.6880T>A (p.Ser2294Thr)
c.829T>A (p.Ser277Thr)
c.1087T>A (p.Ser363Thr)
c.6862T>A (p.Ser2288Thr)
c.6781T>A (p.Ser2261Thr)
n.6132T>A
c.6790T>A (p.Ser2264Thr)
c.6667T>A (p.Ser2223Thr)
n.917T>A
c.4273T>A (p.Ser1425Thr)
c.6886T>A (p.Ser2296Thr)
c.4696T>A (p.Ser1566Thr)
c.4372T>A (p.Ser1458Thr)
11g.118502682T>CCA382803006KMT2Ac.6889T>C (p.Ser2297Pro)
c.6880T>C (p.Ser2294Pro)
c.829T>C (p.Ser277Pro)
c.1087T>C (p.Ser363Pro)
c.6862T>C (p.Ser2288Pro)
c.6781T>C (p.Ser2261Pro)
n.6132T>C
c.6790T>C (p.Ser2264Pro)
c.6667T>C (p.Ser2223Pro)
n.917T>C
c.4273T>C (p.Ser1425Pro)
c.6886T>C (p.Ser2296Pro)
c.4696T>C (p.Ser1566Pro)
c.4372T>C (p.Ser1458Pro)
11g.118502682T>GCA382803007KMT2Ac.6889T>G (p.Ser2297Ala)
c.6880T>G (p.Ser2294Ala)
c.829T>G (p.Ser277Ala)
c.1087T>G (p.Ser363Ala)
c.6862T>G (p.Ser2288Ala)
c.6781T>G (p.Ser2261Ala)
n.6132T>G
c.6790T>G (p.Ser2264Ala)
c.6667T>G (p.Ser2223Ala)
n.917T>G
c.4273T>G (p.Ser1425Ala)
c.6886T>G (p.Ser2296Ala)
c.4696T>G (p.Ser1566Ala)
c.4372T>G (p.Ser1458Ala)
11g.118502683C>ACA382803009KMT2Ac.6890C>A (p.Ser2297Tyr)
c.6881C>A (p.Ser2294Tyr)
c.830C>A (p.Ser277Tyr)
c.1088C>A (p.Ser363Tyr)
c.6863C>A (p.Ser2288Tyr)
c.6782C>A (p.Ser2261Tyr)
n.6133C>A
c.6791C>A (p.Ser2264Tyr)
c.6668C>A (p.Ser2223Tyr)
n.918C>A
c.4274C>A (p.Ser1425Tyr)
c.6887C>A (p.Ser2296Tyr)
c.4697C>A (p.Ser1566Tyr)
c.4373C>A (p.Ser1458Tyr)
11g.118502683C>GCA382803010KMT2Ac.6890C>G (p.Ser2297Cys)
c.6881C>G (p.Ser2294Cys)
c.830C>G (p.Ser277Cys)
c.1088C>G (p.Ser363Cys)
c.6863C>G (p.Ser2288Cys)
c.6782C>G (p.Ser2261Cys)
n.6133C>G
c.6791C>G (p.Ser2264Cys)
c.6668C>G (p.Ser2223Cys)
n.918C>G
c.4274C>G (p.Ser1425Cys)
c.6887C>G (p.Ser2296Cys)
c.4697C>G (p.Ser1566Cys)
c.4373C>G (p.Ser1458Cys)
11g.118502683C>TCA382803011KMT2Ac.6890C>T (p.Ser2297Phe)
c.6881C>T (p.Ser2294Phe)
c.830C>T (p.Ser277Phe)
c.1088C>T (p.Ser363Phe)
c.6863C>T (p.Ser2288Phe)
c.6782C>T (p.Ser2261Phe)
n.6133C>T
c.6791C>T (p.Ser2264Phe)
c.6668C>T (p.Ser2223Phe)
n.918C>T
c.4274C>T (p.Ser1425Phe)
c.6887C>T (p.Ser2296Phe)
c.4697C>T (p.Ser1566Phe)
c.4373C>T (p.Ser1458Phe)
dbSNP gnomAD v4 COSMIC COSMIC
11g.118502684C>ACA477359201KMT2Ac.6891C>A (p.Ser2297=)
c.6882C>A (p.Ser2294=)
c.831C>A (p.Ser277=)
c.1089C>A (p.Ser363=)
c.6864C>A (p.Ser2288=)
c.6783C>A (p.Ser2261=)
n.6134C>A
c.6792C>A (p.Ser2264=)
c.6669C>A (p.Ser2223=)
n.919C>A
c.4275C>A (p.Ser1425=)
c.6888C>A (p.Ser2296=)
c.4698C>A (p.Ser1566=)
c.4374C>A (p.Ser1458=)
11g.118502684C>GCA477359199KMT2Ac.6891C>G (p.Ser2297=)
c.6882C>G (p.Ser2294=)
c.831C>G (p.Ser277=)
c.1089C>G (p.Ser363=)
c.6864C>G (p.Ser2288=)
c.6783C>G (p.Ser2261=)
n.6134C>G
c.6792C>G (p.Ser2264=)
c.6669C>G (p.Ser2223=)
n.919C>G
c.4275C>G (p.Ser1425=)
c.6888C>G (p.Ser2296=)
c.4698C>G (p.Ser1566=)
c.4374C>G (p.Ser1458=)
11g.118502684C>TCA477359200KMT2Ac.6891C>T (p.Ser2297=)
c.6882C>T (p.Ser2294=)
c.831C>T (p.Ser277=)
c.1089C>T (p.Ser363=)
c.6864C>T (p.Ser2288=)
c.6783C>T (p.Ser2261=)
n.6134C>T
c.6792C>T (p.Ser2264=)
c.6669C>T (p.Ser2223=)
n.919C>T
c.4275C>T (p.Ser1425=)
c.6888C>T (p.Ser2296=)
c.4698C>T (p.Ser1566=)
c.4374C>T (p.Ser1458=)
dbSNP COSMIC COSMIC
11g.118502685A=CA2003526637KMT2Ac.6892A= (p.Thr2298=)
c.6883A= (p.Thr2295=)
c.832A= (p.Thr278=)
c.1090A= (p.Thr364=)
c.6865A= (p.Thr2289=)
c.6784A= (p.Thr2262=)
n.6135A=
c.6793A= (p.Thr2265=)
c.6670A= (p.Thr2224=)
n.920A=
c.4276A= (p.Thr1426=)
c.6889A= (p.Thr2297=)
c.4699A= (p.Thr1567=)
c.4375A= (p.Thr1459=)
11g.118502685A>CCA6304311KMT2Ac.6892A>C (p.Thr2298Pro)
c.6883A>C (p.Thr2295Pro)
c.832A>C (p.Thr278Pro)
c.1090A>C (p.Thr364Pro)
c.6865A>C (p.Thr2289Pro)
c.6784A>C (p.Thr2262Pro)
n.6135A>C
c.6793A>C (p.Thr2265Pro)
c.6670A>C (p.Thr2224Pro)
n.920A>C
c.4276A>C (p.Thr1426Pro)
c.6889A>C (p.Thr2297Pro)
c.4699A>C (p.Thr1567Pro)
c.4375A>C (p.Thr1459Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502685A>GCA382803012KMT2Ac.6892A>G (p.Thr2298Ala)
c.6883A>G (p.Thr2295Ala)
c.832A>G (p.Thr278Ala)
c.1090A>G (p.Thr364Ala)
c.6865A>G (p.Thr2289Ala)
c.6784A>G (p.Thr2262Ala)
n.6135A>G
c.6793A>G (p.Thr2265Ala)
c.6670A>G (p.Thr2224Ala)
n.920A>G
c.4276A>G (p.Thr1426Ala)
c.6889A>G (p.Thr2297Ala)
c.4699A>G (p.Thr1567Ala)
c.4375A>G (p.Thr1459Ala)
11g.118502685A>TCA382803013KMT2Ac.6892A>T (p.Thr2298Ser)
c.6883A>T (p.Thr2295Ser)
c.832A>T (p.Thr278Ser)
c.1090A>T (p.Thr364Ser)
c.6865A>T (p.Thr2289Ser)
c.6784A>T (p.Thr2262Ser)
n.6135A>T
c.6793A>T (p.Thr2265Ser)
c.6670A>T (p.Thr2224Ser)
n.920A>T
c.4276A>T (p.Thr1426Ser)
c.6889A>T (p.Thr2297Ser)
c.4699A>T (p.Thr1567Ser)
c.4375A>T (p.Thr1459Ser)
11g.118502686C>ACA382803014KMT2Ac.6893C>A (p.Thr2298Asn)
c.6884C>A (p.Thr2295Asn)
c.833C>A (p.Thr278Asn)
c.1091C>A (p.Thr364Asn)
c.6866C>A (p.Thr2289Asn)
c.6785C>A (p.Thr2262Asn)
n.6136C>A
c.6794C>A (p.Thr2265Asn)
c.6671C>A (p.Thr2224Asn)
n.921C>A
c.4277C>A (p.Thr1426Asn)
c.6890C>A (p.Thr2297Asn)
c.4700C>A (p.Thr1567Asn)
c.4376C>A (p.Thr1459Asn)
11g.118502686C=CA2003526643KMT2Ac.6893C= (p.Thr2298=)
c.6884C= (p.Thr2295=)
c.833C= (p.Thr278=)
c.1091C= (p.Thr364=)
c.6866C= (p.Thr2289=)
c.6785C= (p.Thr2262=)
n.6136C=
c.6794C= (p.Thr2265=)
c.6671C= (p.Thr2224=)
n.921C=
c.4277C= (p.Thr1426=)
c.6890C= (p.Thr2297=)
c.4700C= (p.Thr1567=)
c.4376C= (p.Thr1459=)
11g.118502686C>GCA382803015KMT2Ac.6893C>G (p.Thr2298Ser)
c.6884C>G (p.Thr2295Ser)
c.833C>G (p.Thr278Ser)
c.1091C>G (p.Thr364Ser)
c.6866C>G (p.Thr2289Ser)
c.6785C>G (p.Thr2262Ser)
n.6136C>G
c.6794C>G (p.Thr2265Ser)
c.6671C>G (p.Thr2224Ser)
n.921C>G
c.4277C>G (p.Thr1426Ser)
c.6890C>G (p.Thr2297Ser)
c.4700C>G (p.Thr1567Ser)
c.4376C>G (p.Thr1459Ser)
11g.118502686C>TCA229526413KMT2Ac.6893C>T (p.Thr2298Ile)
c.6884C>T (p.Thr2295Ile)
c.833C>T (p.Thr278Ile)
c.1091C>T (p.Thr364Ile)
c.6866C>T (p.Thr2289Ile)
c.6785C>T (p.Thr2262Ile)
n.6136C>T
c.6794C>T (p.Thr2265Ile)
c.6671C>T (p.Thr2224Ile)
n.921C>T
c.4277C>T (p.Thr1426Ile)
c.6890C>T (p.Thr2297Ile)
c.4700C>T (p.Thr1567Ile)
c.4376C>T (p.Thr1459Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118502687C>ACA477359202KMT2Ac.6894C>A (p.Thr2298=)
c.6885C>A (p.Thr2295=)
c.834C>A (p.Thr278=)
c.1092C>A (p.Thr364=)
c.6867C>A (p.Thr2289=)
c.6786C>A (p.Thr2262=)
n.6137C>A
c.6795C>A (p.Thr2265=)
c.6672C>A (p.Thr2224=)
n.922C>A
c.4278C>A (p.Thr1426=)
c.6891C>A (p.Thr2297=)
c.4701C>A (p.Thr1567=)
c.4377C>A (p.Thr1459=)
11g.118502687C>GCA477359203KMT2Ac.6894C>G (p.Thr2298=)
c.6885C>G (p.Thr2295=)
c.834C>G (p.Thr278=)
c.1092C>G (p.Thr364=)
c.6867C>G (p.Thr2289=)
c.6786C>G (p.Thr2262=)
n.6137C>G
c.6795C>G (p.Thr2265=)
c.6672C>G (p.Thr2224=)
n.922C>G
c.4278C>G (p.Thr1426=)
c.6891C>G (p.Thr2297=)
c.4701C>G (p.Thr1567=)
c.4377C>G (p.Thr1459=)
11g.118502687C>TCA477359204KMT2Ac.6894C>T (p.Thr2298=)
c.6885C>T (p.Thr2295=)
c.834C>T (p.Thr278=)
c.1092C>T (p.Thr364=)
c.6867C>T (p.Thr2289=)
c.6786C>T (p.Thr2262=)
n.6137C>T
c.6795C>T (p.Thr2265=)
c.6672C>T (p.Thr2224=)
n.922C>T
c.4278C>T (p.Thr1426=)
c.6891C>T (p.Thr2297=)
c.4701C>T (p.Thr1567=)
c.4377C>T (p.Thr1459=)
11g.118502688T>ACA382803016KMT2Ac.6895T>A (p.Ser2299Thr)
c.6886T>A (p.Ser2296Thr)
c.835T>A (p.Ser279Thr)
c.1093T>A (p.Ser365Thr)
c.6868T>A (p.Ser2290Thr)
c.6787T>A (p.Ser2263Thr)
n.6138T>A
c.6796T>A (p.Ser2266Thr)
c.6673T>A (p.Ser2225Thr)
n.923T>A
c.4279T>A (p.Ser1427Thr)
c.6892T>A (p.Ser2298Thr)
c.4702T>A (p.Ser1568Thr)
c.4378T>A (p.Ser1460Thr)
11g.118502688T>CCA382803017KMT2Ac.6895T>C (p.Ser2299Pro)
c.6886T>C (p.Ser2296Pro)
c.835T>C (p.Ser279Pro)
c.1093T>C (p.Ser365Pro)
c.6868T>C (p.Ser2290Pro)
c.6787T>C (p.Ser2263Pro)
n.6138T>C
c.6796T>C (p.Ser2266Pro)
c.6673T>C (p.Ser2225Pro)
n.923T>C
c.4279T>C (p.Ser1427Pro)
c.6892T>C (p.Ser2298Pro)
c.4702T>C (p.Ser1568Pro)
c.4378T>C (p.Ser1460Pro)
11g.118502688T>GCA382803018KMT2Ac.6895T>G (p.Ser2299Ala)
c.6886T>G (p.Ser2296Ala)
c.835T>G (p.Ser279Ala)
c.1093T>G (p.Ser365Ala)
c.6868T>G (p.Ser2290Ala)
c.6787T>G (p.Ser2263Ala)
n.6138T>G
c.6796T>G (p.Ser2266Ala)
c.6673T>G (p.Ser2225Ala)
n.923T>G
c.4279T>G (p.Ser1427Ala)
c.6892T>G (p.Ser2298Ala)
c.4702T>G (p.Ser1568Ala)
c.4378T>G (p.Ser1460Ala)
11g.118502689C>ACA382803020KMT2Ac.6896C>A (p.Ser2299Tyr)
c.6887C>A (p.Ser2296Tyr)
c.836C>A (p.Ser279Tyr)
c.1094C>A (p.Ser365Tyr)
c.6869C>A (p.Ser2290Tyr)
c.6788C>A (p.Ser2263Tyr)
n.6139C>A
c.6797C>A (p.Ser2266Tyr)
c.6674C>A (p.Ser2225Tyr)
n.924C>A
c.4280C>A (p.Ser1427Tyr)
c.6893C>A (p.Ser2298Tyr)
c.4703C>A (p.Ser1568Tyr)
c.4379C>A (p.Ser1460Tyr)
11g.118502689C=CA2003526645KMT2Ac.6896C= (p.Ser2299=)
c.6887C= (p.Ser2296=)
c.836C= (p.Ser279=)
c.1094C= (p.Ser365=)
c.6869C= (p.Ser2290=)
c.6788C= (p.Ser2263=)
n.6139C=
c.6797C= (p.Ser2266=)
c.6674C= (p.Ser2225=)
n.924C=
c.4280C= (p.Ser1427=)
c.6893C= (p.Ser2298=)
c.4703C= (p.Ser1568=)
c.4379C= (p.Ser1460=)
11g.118502689C>GCA382803021KMT2Ac.6896C>G (p.Ser2299Cys)
c.6887C>G (p.Ser2296Cys)
c.836C>G (p.Ser279Cys)
c.1094C>G (p.Ser365Cys)
c.6869C>G (p.Ser2290Cys)
c.6788C>G (p.Ser2263Cys)
n.6139C>G
c.6797C>G (p.Ser2266Cys)
c.6674C>G (p.Ser2225Cys)
n.924C>G
c.4280C>G (p.Ser1427Cys)
c.6893C>G (p.Ser2298Cys)
c.4703C>G (p.Ser1568Cys)
c.4379C>G (p.Ser1460Cys)
11g.118502689C>TCA382803019KMT2Ac.6896C>T (p.Ser2299Phe)
c.6887C>T (p.Ser2296Phe)
c.836C>T (p.Ser279Phe)
c.1094C>T (p.Ser365Phe)
c.6869C>T (p.Ser2290Phe)
c.6788C>T (p.Ser2263Phe)
n.6139C>T
c.6797C>T (p.Ser2266Phe)
c.6674C>T (p.Ser2225Phe)
n.924C>T
c.4280C>T (p.Ser1427Phe)
c.6893C>T (p.Ser2298Phe)
c.4703C>T (p.Ser1568Phe)
c.4379C>T (p.Ser1460Phe)
dbSNP
11g.118502690T>ACA477359205KMT2Ac.6897T>A (p.Ser2299=)
c.6888T>A (p.Ser2296=)
c.837T>A (p.Ser279=)
c.1095T>A (p.Ser365=)
c.6870T>A (p.Ser2290=)
c.6789T>A (p.Ser2263=)
n.6140T>A
c.6798T>A (p.Ser2266=)
c.6675T>A (p.Ser2225=)
n.925T>A
c.4281T>A (p.Ser1427=)
c.6894T>A (p.Ser2298=)
c.4704T>A (p.Ser1568=)
c.4380T>A (p.Ser1460=)
11g.118502690T>CCA477359207KMT2Ac.6897T>C (p.Ser2299=)
c.6888T>C (p.Ser2296=)
c.837T>C (p.Ser279=)
c.1095T>C (p.Ser365=)
c.6870T>C (p.Ser2290=)
c.6789T>C (p.Ser2263=)
n.6140T>C
c.6798T>C (p.Ser2266=)
c.6675T>C (p.Ser2225=)
n.925T>C
c.4281T>C (p.Ser1427=)
c.6894T>C (p.Ser2298=)
c.4704T>C (p.Ser1568=)
c.4380T>C (p.Ser1460=)
11g.118502690T>GCA477359206KMT2Ac.6897T>G (p.Ser2299=)
c.6888T>G (p.Ser2296=)
c.837T>G (p.Ser279=)
c.1095T>G (p.Ser365=)
c.6870T>G (p.Ser2290=)
c.6789T>G (p.Ser2263=)
n.6140T>G
c.6798T>G (p.Ser2266=)
c.6675T>G (p.Ser2225=)
n.925T>G
c.4281T>G (p.Ser1427=)
c.6894T>G (p.Ser2298=)
c.4704T>G (p.Ser1568=)
c.4380T>G (p.Ser1460=)
11g.118502691T>ACA382803022KMT2Ac.6898T>A (p.Ser2300Thr)
c.6889T>A (p.Ser2297Thr)
c.838T>A (p.Ser280Thr)
c.1096T>A (p.Ser366Thr)
c.6871T>A (p.Ser2291Thr)
c.6790T>A (p.Ser2264Thr)
n.6141T>A
c.6799T>A (p.Ser2267Thr)
c.6676T>A (p.Ser2226Thr)
n.926T>A
c.4282T>A (p.Ser1428Thr)
c.6895T>A (p.Ser2299Thr)
c.4705T>A (p.Ser1569Thr)
c.4381T>A (p.Ser1461Thr)
11g.118502691T>CCA382803023KMT2Ac.6898T>C (p.Ser2300Pro)
c.6889T>C (p.Ser2297Pro)
c.838T>C (p.Ser280Pro)
c.1096T>C (p.Ser366Pro)
c.6871T>C (p.Ser2291Pro)
c.6790T>C (p.Ser2264Pro)
n.6141T>C
c.6799T>C (p.Ser2267Pro)
c.6676T>C (p.Ser2226Pro)
n.926T>C
c.4282T>C (p.Ser1428Pro)
c.6895T>C (p.Ser2299Pro)
c.4705T>C (p.Ser1569Pro)
c.4381T>C (p.Ser1461Pro)
11g.118502691T>GCA382803024KMT2Ac.6898T>G (p.Ser2300Ala)
c.6889T>G (p.Ser2297Ala)
c.838T>G (p.Ser280Ala)
c.1096T>G (p.Ser366Ala)
c.6871T>G (p.Ser2291Ala)
c.6790T>G (p.Ser2264Ala)
n.6141T>G
c.6799T>G (p.Ser2267Ala)
c.6676T>G (p.Ser2226Ala)
n.926T>G
c.4282T>G (p.Ser1428Ala)
c.6895T>G (p.Ser2299Ala)
c.4705T>G (p.Ser1569Ala)
c.4381T>G (p.Ser1461Ala)
11g.118502692C>ACA382803025KMT2Ac.6899C>A (p.Ser2300Ter)
c.6890C>A (p.Ser2297Ter)
c.839C>A (p.Ser280Ter)
c.1097C>A (p.Ser366Ter)
c.6872C>A (p.Ser2291Ter)
c.6791C>A (p.Ser2264Ter)
n.6142C>A
c.6800C>A (p.Ser2267Ter)
c.6677C>A (p.Ser2226Ter)
n.927C>A
c.4283C>A (p.Ser1428Ter)
c.6896C>A (p.Ser2299Ter)
c.4706C>A (p.Ser1569Ter)
c.4382C>A (p.Ser1461Ter)
11g.118502692C>GCA382803026KMT2Ac.6899C>G (p.Ser2300Ter)
c.6890C>G (p.Ser2297Ter)
c.839C>G (p.Ser280Ter)
c.1097C>G (p.Ser366Ter)
c.6872C>G (p.Ser2291Ter)
c.6791C>G (p.Ser2264Ter)
n.6142C>G
c.6800C>G (p.Ser2267Ter)
c.6677C>G (p.Ser2226Ter)
n.927C>G
c.4283C>G (p.Ser1428Ter)
c.6896C>G (p.Ser2299Ter)
c.4706C>G (p.Ser1569Ter)
c.4382C>G (p.Ser1461Ter)
11g.118502692C>TCA382803027KMT2Ac.6899C>T (p.Ser2300Leu)
c.6890C>T (p.Ser2297Leu)
c.839C>T (p.Ser280Leu)
c.1097C>T (p.Ser366Leu)
c.6872C>T (p.Ser2291Leu)
c.6791C>T (p.Ser2264Leu)
n.6142C>T
c.6800C>T (p.Ser2267Leu)
c.6677C>T (p.Ser2226Leu)
n.927C>T
c.4283C>T (p.Ser1428Leu)
c.6896C>T (p.Ser2299Leu)
c.4706C>T (p.Ser1569Leu)
c.4382C>T (p.Ser1461Leu)
dbSNP gnomAD v4
11g.118502693A>CCA477359208KMT2Ac.6900A>C (p.Ser2300=)
c.6891A>C (p.Ser2297=)
c.840A>C (p.Ser280=)
c.1098A>C (p.Ser366=)
c.6873A>C (p.Ser2291=)
c.6792A>C (p.Ser2264=)
n.6143A>C
c.6801A>C (p.Ser2267=)
c.6678A>C (p.Ser2226=)
n.928A>C
c.4284A>C (p.Ser1428=)
c.6897A>C (p.Ser2299=)
c.4707A>C (p.Ser1569=)
c.4383A>C (p.Ser1461=)
11g.118502693A>GCA477359209KMT2Ac.6900A>G (p.Ser2300=)
c.6891A>G (p.Ser2297=)
c.840A>G (p.Ser280=)
c.1098A>G (p.Ser366=)
c.6873A>G (p.Ser2291=)
c.6792A>G (p.Ser2264=)
n.6143A>G
c.6801A>G (p.Ser2267=)
c.6678A>G (p.Ser2226=)
n.928A>G
c.4284A>G (p.Ser1428=)
c.6897A>G (p.Ser2299=)
c.4707A>G (p.Ser1569=)
c.4383A>G (p.Ser1461=)
11g.118502693A>TCA477359210KMT2Ac.6900A>T (p.Ser2300=)
c.6891A>T (p.Ser2297=)
c.840A>T (p.Ser280=)
c.1098A>T (p.Ser366=)
c.6873A>T (p.Ser2291=)
c.6792A>T (p.Ser2264=)
n.6143A>T
c.6801A>T (p.Ser2267=)
c.6678A>T (p.Ser2226=)
n.928A>T
c.4284A>T (p.Ser1428=)
c.6897A>T (p.Ser2299=)
c.4707A>T (p.Ser1569=)
c.4383A>T (p.Ser1461=)
11g.118502694A=CA2003526647KMT2Ac.6901A= (p.Asn2301=)
c.6892A= (p.Asn2298=)
c.841A= (p.Asn281=)
c.1099A= (p.Asn367=)
c.6874A= (p.Asn2292=)
c.6793A= (p.Asn2265=)
n.6144A=
c.6802A= (p.Asn2268=)
c.6679A= (p.Asn2227=)
n.929A=
c.4285A= (p.Asn1429=)
c.6898A= (p.Asn2300=)
c.4708A= (p.Asn1570=)
c.4384A= (p.Asn1462=)
11g.118502694A>CCA382803030KMT2Ac.6901A>C (p.Asn2301His)
c.6892A>C (p.Asn2298His)
c.841A>C (p.Asn281His)
c.1099A>C (p.Asn367His)
c.6874A>C (p.Asn2292His)
c.6793A>C (p.Asn2265His)
n.6144A>C
c.6802A>C (p.Asn2268His)
c.6679A>C (p.Asn2227His)
n.929A>C
c.4285A>C (p.Asn1429His)
c.6898A>C (p.Asn2300His)
c.4708A>C (p.Asn1570His)
c.4384A>C (p.Asn1462His)
11g.118502694A>GCA6304312KMT2Ac.6901A>G (p.Asn2301Asp)
c.6892A>G (p.Asn2298Asp)
c.841A>G (p.Asn281Asp)
c.1099A>G (p.Asn367Asp)
c.6874A>G (p.Asn2292Asp)
c.6793A>G (p.Asn2265Asp)
n.6144A>G
c.6802A>G (p.Asn2268Asp)
c.6679A>G (p.Asn2227Asp)
n.929A>G
c.4285A>G (p.Asn1429Asp)
c.6898A>G (p.Asn2300Asp)
c.4708A>G (p.Asn1570Asp)
c.4384A>G (p.Asn1462Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502694A>TCA382803029KMT2Ac.6901A>T (p.Asn2301Tyr)
c.6892A>T (p.Asn2298Tyr)
c.841A>T (p.Asn281Tyr)
c.1099A>T (p.Asn367Tyr)
c.6874A>T (p.Asn2292Tyr)
c.6793A>T (p.Asn2265Tyr)
n.6144A>T
c.6802A>T (p.Asn2268Tyr)
c.6679A>T (p.Asn2227Tyr)
n.929A>T
c.4285A>T (p.Asn1429Tyr)
c.6898A>T (p.Asn2300Tyr)
c.4708A>T (p.Asn1570Tyr)
c.4384A>T (p.Asn1462Tyr)
dbSNP gnomAD v2 gnomAD v4
11g.118502695A>CCA382803031KMT2Ac.6902A>C (p.Asn2301Thr)
c.6893A>C (p.Asn2298Thr)
c.842A>C (p.Asn281Thr)
c.1100A>C (p.Asn367Thr)
c.6875A>C (p.Asn2292Thr)
c.6794A>C (p.Asn2265Thr)
n.6145A>C
c.6803A>C (p.Asn2268Thr)
c.6680A>C (p.Asn2227Thr)
n.930A>C
c.4286A>C (p.Asn1429Thr)
c.6899A>C (p.Asn2300Thr)
c.4709A>C (p.Asn1570Thr)
c.4385A>C (p.Asn1462Thr)
11g.118502695A>GCA382803032KMT2Ac.6902A>G (p.Asn2301Ser)
c.6893A>G (p.Asn2298Ser)
c.842A>G (p.Asn281Ser)
c.1100A>G (p.Asn367Ser)
c.6875A>G (p.Asn2292Ser)
c.6794A>G (p.Asn2265Ser)
n.6145A>G
c.6803A>G (p.Asn2268Ser)
c.6680A>G (p.Asn2227Ser)
n.930A>G
c.4286A>G (p.Asn1429Ser)
c.6899A>G (p.Asn2300Ser)
c.4709A>G (p.Asn1570Ser)
c.4385A>G (p.Asn1462Ser)
gnomAD v4
11g.118502695A>TCA382803033KMT2Ac.6902A>T (p.Asn2301Ile)
c.6893A>T (p.Asn2298Ile)
c.842A>T (p.Asn281Ile)
c.1100A>T (p.Asn367Ile)
c.6875A>T (p.Asn2292Ile)
c.6794A>T (p.Asn2265Ile)
n.6145A>T
c.6803A>T (p.Asn2268Ile)
c.6680A>T (p.Asn2227Ile)
n.930A>T
c.4286A>T (p.Asn1429Ile)
c.6899A>T (p.Asn2300Ile)
c.4709A>T (p.Asn1570Ile)
c.4385A>T (p.Asn1462Ile)
11g.118502696T>ACA382803034KMT2Ac.6903T>A (p.Asn2301Lys)
c.6894T>A (p.Asn2298Lys)
c.843T>A (p.Asn281Lys)
c.1101T>A (p.Asn367Lys)
c.6876T>A (p.Asn2292Lys)
c.6795T>A (p.Asn2265Lys)
n.6146T>A
c.6804T>A (p.Asn2268Lys)
c.6681T>A (p.Asn2227Lys)
n.931T>A
c.4287T>A (p.Asn1429Lys)
c.6900T>A (p.Asn2300Lys)
c.4710T>A (p.Asn1570Lys)
c.4386T>A (p.Asn1462Lys)
11g.118502696T>CCA477359211KMT2Ac.6903T>C (p.Asn2301=)
c.6894T>C (p.Asn2298=)
c.843T>C (p.Asn281=)
c.1101T>C (p.Asn367=)
c.6876T>C (p.Asn2292=)
c.6795T>C (p.Asn2265=)
n.6146T>C
c.6804T>C (p.Asn2268=)
c.6681T>C (p.Asn2227=)
n.931T>C
c.4287T>C (p.Asn1429=)
c.6900T>C (p.Asn2300=)
c.4710T>C (p.Asn1570=)
c.4386T>C (p.Asn1462=)
11g.118502696T>GCA382803035KMT2Ac.6903T>G (p.Asn2301Lys)
c.6894T>G (p.Asn2298Lys)
c.843T>G (p.Asn281Lys)
c.1101T>G (p.Asn367Lys)
c.6876T>G (p.Asn2292Lys)
c.6795T>G (p.Asn2265Lys)
n.6146T>G
c.6804T>G (p.Asn2268Lys)
c.6681T>G (p.Asn2227Lys)
n.931T>G
c.4287T>G (p.Asn1429Lys)
c.6900T>G (p.Asn2300Lys)
c.4710T>G (p.Asn1570Lys)
c.4386T>G (p.Asn1462Lys)
11g.118502697T>ACA382803036KMT2Ac.6904T>A (p.Leu2302Met)
c.6895T>A (p.Leu2299Met)
c.844T>A (p.Leu282Met)
c.1102T>A (p.Leu368Met)
c.6877T>A (p.Leu2293Met)
c.6796T>A (p.Leu2266Met)
n.6147T>A
c.6805T>A (p.Leu2269Met)
c.6682T>A (p.Leu2228Met)
n.932T>A
c.4288T>A (p.Leu1430Met)
c.6901T>A (p.Leu2301Met)
c.4711T>A (p.Leu1571Met)
c.4387T>A (p.Leu1463Met)
11g.118502697T>CCA229526423KMT2Ac.6904T>C (p.Leu2302=)
c.6895T>C (p.Leu2299=)
c.844T>C (p.Leu282=)
c.1102T>C (p.Leu368=)
c.6877T>C (p.Leu2293=)
c.6796T>C (p.Leu2266=)
n.6147T>C
c.6805T>C (p.Leu2269=)
c.6682T>C (p.Leu2228=)
n.932T>C
c.4288T>C (p.Leu1430=)
c.6901T>C (p.Leu2301=)
c.4711T>C (p.Leu1571=)
c.4387T>C (p.Leu1463=)
dbSNP gnomAD v4
11g.118502697T>GCA382803037KMT2Ac.6904T>G (p.Leu2302Val)
c.6895T>G (p.Leu2299Val)
c.844T>G (p.Leu282Val)
c.1102T>G (p.Leu368Val)
c.6877T>G (p.Leu2293Val)
c.6796T>G (p.Leu2266Val)
n.6147T>G
c.6805T>G (p.Leu2269Val)
c.6682T>G (p.Leu2228Val)
n.932T>G
c.4288T>G (p.Leu1430Val)
c.6901T>G (p.Leu2301Val)
c.4711T>G (p.Leu1571Val)
c.4387T>G (p.Leu1463Val)
11g.118502697T=CA2003526652KMT2Ac.6904T= (p.Leu2302=)
c.6895T= (p.Leu2299=)
c.844T= (p.Leu282=)
c.1102T= (p.Leu368=)
c.6877T= (p.Leu2293=)
c.6796T= (p.Leu2266=)
n.6147T=
c.6805T= (p.Leu2269=)
c.6682T= (p.Leu2228=)
n.932T=
c.4288T= (p.Leu1430=)
c.6901T= (p.Leu2301=)
c.4711T= (p.Leu1571=)
c.4387T= (p.Leu1463=)
11g.118502698T>ACA382803038KMT2Ac.6905T>A (p.Leu2302Ter)
c.6896T>A (p.Leu2299Ter)
c.845T>A (p.Leu282Ter)
c.1103T>A (p.Leu368Ter)
c.6878T>A (p.Leu2293Ter)
c.6797T>A (p.Leu2266Ter)
n.6148T>A
c.6806T>A (p.Leu2269Ter)
c.6683T>A (p.Leu2228Ter)
n.933T>A
c.4289T>A (p.Leu1430Ter)
c.6902T>A (p.Leu2301Ter)
c.4712T>A (p.Leu1571Ter)
c.4388T>A (p.Leu1463Ter)
11g.118502698T>CCA382803039KMT2Ac.6905T>C (p.Leu2302Ser)
c.6896T>C (p.Leu2299Ser)
c.845T>C (p.Leu282Ser)
c.1103T>C (p.Leu368Ser)
c.6878T>C (p.Leu2293Ser)
c.6797T>C (p.Leu2266Ser)
n.6148T>C
c.6806T>C (p.Leu2269Ser)
c.6683T>C (p.Leu2228Ser)
n.933T>C
c.4289T>C (p.Leu1430Ser)
c.6902T>C (p.Leu2301Ser)
c.4712T>C (p.Leu1571Ser)
c.4388T>C (p.Leu1463Ser)
11g.118502698T>GCA382803040KMT2Ac.6905T>G (p.Leu2302Trp)
c.6896T>G (p.Leu2299Trp)
c.845T>G (p.Leu282Trp)
c.1103T>G (p.Leu368Trp)
c.6878T>G (p.Leu2293Trp)
c.6797T>G (p.Leu2266Trp)
n.6148T>G
c.6806T>G (p.Leu2269Trp)
c.6683T>G (p.Leu2228Trp)
n.933T>G
c.4289T>G (p.Leu1430Trp)
c.6902T>G (p.Leu2301Trp)
c.4712T>G (p.Leu1571Trp)
c.4388T>G (p.Leu1463Trp)
11g.118502699G>ACA6304313KMT2Ac.6906G>A (p.Leu2302=)
c.6897G>A (p.Leu2299=)
c.846G>A (p.Leu282=)
c.1104G>A (p.Leu368=)
c.6879G>A (p.Leu2293=)
c.6798G>A (p.Leu2266=)
n.6149G>A
c.6807G>A (p.Leu2269=)
c.6684G>A (p.Leu2228=)
n.934G>A
c.4290G>A (p.Leu1430=)
c.6903G>A (p.Leu2301=)
c.4713G>A (p.Leu1571=)
c.4389G>A (p.Leu1463=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502699G>CCA382803041KMT2Ac.6906G>C (p.Leu2302Phe)
c.6897G>C (p.Leu2299Phe)
c.846G>C (p.Leu282Phe)
c.1104G>C (p.Leu368Phe)
c.6879G>C (p.Leu2293Phe)
c.6798G>C (p.Leu2266Phe)
n.6149G>C
c.6807G>C (p.Leu2269Phe)
c.6684G>C (p.Leu2228Phe)
n.934G>C
c.4290G>C (p.Leu1430Phe)
c.6903G>C (p.Leu2301Phe)
c.4713G>C (p.Leu1571Phe)
c.4389G>C (p.Leu1463Phe)
11g.118502699G=CA2003526658KMT2Ac.6906G= (p.Leu2302=)
c.6897G= (p.Leu2299=)
c.846G= (p.Leu282=)
c.1104G= (p.Leu368=)
c.6879G= (p.Leu2293=)
c.6798G= (p.Leu2266=)
n.6149G=
c.6807G= (p.Leu2269=)
c.6684G= (p.Leu2228=)
n.934G=
c.4290G= (p.Leu1430=)
c.6903G= (p.Leu2301=)
c.4713G= (p.Leu1571=)
c.4389G= (p.Leu1463=)
11g.118502699G>TCA382803043KMT2Ac.6906G>T (p.Leu2302Phe)
c.6897G>T (p.Leu2299Phe)
c.846G>T (p.Leu282Phe)
c.1104G>T (p.Leu368Phe)
c.6879G>T (p.Leu2293Phe)
c.6798G>T (p.Leu2266Phe)
n.6149G>T
c.6807G>T (p.Leu2269Phe)
c.6684G>T (p.Leu2228Phe)
n.934G>T
c.4290G>T (p.Leu1430Phe)
c.6903G>T (p.Leu2301Phe)
c.4713G>T (p.Leu1571Phe)
c.4389G>T (p.Leu1463Phe)
11g.118502700C>ACA382803045KMT2Ac.6907C>A (p.Gln2303Lys)
c.6898C>A (p.Gln2300Lys)
c.847C>A (p.Gln283Lys)
c.1105C>A (p.Gln369Lys)
c.6880C>A (p.Gln2294Lys)
c.6799C>A (p.Gln2267Lys)
n.6150C>A
c.6808C>A (p.Gln2270Lys)
c.6685C>A (p.Gln2229Lys)
n.935C>A
c.4291C>A (p.Gln1431Lys)
c.6904C>A (p.Gln2302Lys)
c.4714C>A (p.Gln1572Lys)
c.4390C>A (p.Gln1464Lys)
11g.118502700C>GCA382803047KMT2Ac.6907C>G (p.Gln2303Glu)
c.6898C>G (p.Gln2300Glu)
c.847C>G (p.Gln283Glu)
c.1105C>G (p.Gln369Glu)
c.6880C>G (p.Gln2294Glu)
c.6799C>G (p.Gln2267Glu)
n.6150C>G
c.6808C>G (p.Gln2270Glu)
c.6685C>G (p.Gln2229Glu)
n.935C>G
c.4291C>G (p.Gln1431Glu)
c.6904C>G (p.Gln2302Glu)
c.4714C>G (p.Gln1572Glu)
c.4390C>G (p.Gln1464Glu)
11g.118502700C>TCA382803048KMT2Ac.6907C>T (p.Gln2303Ter)
c.6898C>T (p.Gln2300Ter)
c.847C>T (p.Gln283Ter)
c.1105C>T (p.Gln369Ter)
c.6880C>T (p.Gln2294Ter)
c.6799C>T (p.Gln2267Ter)
n.6150C>T
c.6808C>T (p.Gln2270Ter)
c.6685C>T (p.Gln2229Ter)
n.935C>T
c.4291C>T (p.Gln1431Ter)
c.6904C>T (p.Gln2302Ter)
c.4714C>T (p.Gln1572Ter)
c.4390C>T (p.Gln1464Ter)
11g.118502700_118502701delinsCACA2003526661KMT2Ac.6907_6908delinsCA (p.Gln2303=)
c.6898_6899delinsCA (p.Gln2300=)
c.847_848delinsCA (p.Gln283=)
c.1105_1106delinsCA (p.Gln369=)
c.6880_6881delinsCA (p.Gln2294=)
c.6799_6800delinsCA (p.Gln2267=)
n.6150_6151delinsCA
c.6808_6809delinsCA (p.Gln2270=)
c.6685_6686delinsCA (p.Gln2229=)
n.935_936delinsCA
c.4291_4292delinsCA (p.Gln1431=)
c.6904_6905delinsCA (p.Gln2302=)
c.4714_4715delinsCA (p.Gln1572=)
c.4390_4391delinsCA (p.Gln1464=)
11g.118502701A>CCA382803051KMT2Ac.6908A>C (p.Gln2303Pro)
c.6899A>C (p.Gln2300Pro)
c.848A>C (p.Gln283Pro)
c.1106A>C (p.Gln369Pro)
c.6881A>C (p.Gln2294Pro)
c.6800A>C (p.Gln2267Pro)
n.6151A>C
c.6809A>C (p.Gln2270Pro)
c.6686A>C (p.Gln2229Pro)
n.936A>C
c.4292A>C (p.Gln1431Pro)
c.6905A>C (p.Gln2302Pro)
c.4715A>C (p.Gln1572Pro)
c.4391A>C (p.Gln1464Pro)
11g.118502701A>GCA382803053KMT2Ac.6908A>G (p.Gln2303Arg)
c.6899A>G (p.Gln2300Arg)
c.848A>G (p.Gln283Arg)
c.1106A>G (p.Gln369Arg)
c.6881A>G (p.Gln2294Arg)
c.6800A>G (p.Gln2267Arg)
n.6151A>G
c.6809A>G (p.Gln2270Arg)
c.6686A>G (p.Gln2229Arg)
n.936A>G
c.4292A>G (p.Gln1431Arg)
c.6905A>G (p.Gln2302Arg)
c.4715A>G (p.Gln1572Arg)
c.4391A>G (p.Gln1464Arg)
COSMIC COSMIC
11g.118502701A>TCA382803054KMT2Ac.6908A>T (p.Gln2303Leu)
c.6899A>T (p.Gln2300Leu)
c.848A>T (p.Gln283Leu)
c.1106A>T (p.Gln369Leu)
c.6881A>T (p.Gln2294Leu)
c.6800A>T (p.Gln2267Leu)
n.6151A>T
c.6809A>T (p.Gln2270Leu)
c.6686A>T (p.Gln2229Leu)
n.936A>T
c.4292A>T (p.Gln1431Leu)
c.6905A>T (p.Gln2302Leu)
c.4715A>T (p.Gln1572Leu)
c.4391A>T (p.Gln1464Leu)
11g.118502703delCA209488KMT2Ac.6910del (p.Arg2304GlyfsTer6)
c.6901del (p.Arg2301GlyfsTer6)
c.850del (p.Arg284GlyfsTer6)
c.1108del (p.Arg370GlyfsTer6)
c.6883del (p.Arg2295GlyfsTer6)
c.6802del (p.Arg2268GlyfsTer6)
n.6153del
c.6811del (p.Arg2271GlyfsTer6)
c.6688del (p.Arg2230GlyfsTer6)
n.938del
c.4294del (p.Arg1432GlyfsTer6)
c.6907del (p.Arg2303GlyfsTer6)
c.4717del (p.Arg1573GlyfsTer6)
c.4393del (p.Arg1465GlyfsTer6)
ClinVar dbSNP COSMIC COSMIC
11g.118502702A>CCA382803057KMT2Ac.6909A>C (p.Gln2303His)
c.6900A>C (p.Gln2300His)
c.849A>C (p.Gln283His)
c.1107A>C (p.Gln369His)
c.6882A>C (p.Gln2294His)
c.6801A>C (p.Gln2267His)
n.6152A>C
c.6810A>C (p.Gln2270His)
c.6687A>C (p.Gln2229His)
n.937A>C
c.4293A>C (p.Gln1431His)
c.6906A>C (p.Gln2302His)
c.4716A>C (p.Gln1572His)
c.4392A>C (p.Gln1464His)
gnomAD v4
11g.118502702A>GCA477359212KMT2Ac.6909A>G (p.Gln2303=)
c.6900A>G (p.Gln2300=)
c.849A>G (p.Gln283=)
c.1107A>G (p.Gln369=)
c.6882A>G (p.Gln2294=)
c.6801A>G (p.Gln2267=)
n.6152A>G
c.6810A>G (p.Gln2270=)
c.6687A>G (p.Gln2229=)
n.937A>G
c.4293A>G (p.Gln1431=)
c.6906A>G (p.Gln2302=)
c.4716A>G (p.Gln1572=)
c.4392A>G (p.Gln1464=)
11g.118502702A>TCA382803059KMT2Ac.6909A>T (p.Gln2303His)
c.6900A>T (p.Gln2300His)
c.849A>T (p.Gln283His)
c.1107A>T (p.Gln369His)
c.6882A>T (p.Gln2294His)
c.6801A>T (p.Gln2267His)
n.6152A>T
c.6810A>T (p.Gln2270His)
c.6687A>T (p.Gln2229His)
n.937A>T
c.4293A>T (p.Gln1431His)
c.6906A>T (p.Gln2302His)
c.4716A>T (p.Gln1572His)
c.4392A>T (p.Gln1464His)
11g.118502703A>CCA477359213KMT2Ac.6910A>C (p.Arg2304=)
c.6901A>C (p.Arg2301=)
c.850A>C (p.Arg284=)
c.1108A>C (p.Arg370=)
c.6883A>C (p.Arg2295=)
c.6802A>C (p.Arg2268=)
n.6153A>C
c.6811A>C (p.Arg2271=)
c.6688A>C (p.Arg2230=)
n.938A>C
c.4294A>C (p.Arg1432=)
c.6907A>C (p.Arg2303=)
c.4717A>C (p.Arg1573=)
c.4393A>C (p.Arg1465=)
11g.118502703A>GCA382803062KMT2Ac.6910A>G (p.Arg2304Gly)
c.6901A>G (p.Arg2301Gly)
c.850A>G (p.Arg284Gly)
c.1108A>G (p.Arg370Gly)
c.6883A>G (p.Arg2295Gly)
c.6802A>G (p.Arg2268Gly)
n.6153A>G
c.6811A>G (p.Arg2271Gly)
c.6688A>G (p.Arg2230Gly)
n.938A>G
c.4294A>G (p.Arg1432Gly)
c.6907A>G (p.Arg2303Gly)
c.4717A>G (p.Arg1573Gly)
c.4393A>G (p.Arg1465Gly)
11g.118502703A>TCA382803060KMT2Ac.6910A>T (p.Arg2304Trp)
c.6901A>T (p.Arg2301Trp)
c.850A>T (p.Arg284Trp)
c.1108A>T (p.Arg370Trp)
c.6883A>T (p.Arg2295Trp)
c.6802A>T (p.Arg2268Trp)
n.6153A>T
c.6811A>T (p.Arg2271Trp)
c.6688A>T (p.Arg2230Trp)
n.938A>T
c.4294A>T (p.Arg1432Trp)
c.6907A>T (p.Arg2303Trp)
c.4717A>T (p.Arg1573Trp)
c.4393A>T (p.Arg1465Trp)
11g.118502704G>ACA382803064KMT2Ac.6911G>A (p.Arg2304Lys)
c.6902G>A (p.Arg2301Lys)
c.851G>A (p.Arg284Lys)
c.1109G>A (p.Arg370Lys)
c.6884G>A (p.Arg2295Lys)
c.6803G>A (p.Arg2268Lys)
n.6154G>A
c.6812G>A (p.Arg2271Lys)
c.6689G>A (p.Arg2230Lys)
n.939G>A
c.4295G>A (p.Arg1432Lys)
c.6908G>A (p.Arg2303Lys)
c.4718G>A (p.Arg1573Lys)
c.4394G>A (p.Arg1465Lys)
ClinVar dbSNP gnomAD v4
11g.118502704G>CCA382803066KMT2Ac.6911G>C (p.Arg2304Thr)
c.6902G>C (p.Arg2301Thr)
c.851G>C (p.Arg284Thr)
c.1109G>C (p.Arg370Thr)
c.6884G>C (p.Arg2295Thr)
c.6803G>C (p.Arg2268Thr)
n.6154G>C
c.6812G>C (p.Arg2271Thr)
c.6689G>C (p.Arg2230Thr)
n.939G>C
c.4295G>C (p.Arg1432Thr)
c.6908G>C (p.Arg2303Thr)
c.4718G>C (p.Arg1573Thr)
c.4394G>C (p.Arg1465Thr)
11g.118502704G=CA2003526681KMT2Ac.6911G= (p.Arg2304=)
c.6902G= (p.Arg2301=)
c.851G= (p.Arg284=)
c.1109G= (p.Arg370=)
c.6884G= (p.Arg2295=)
c.6803G= (p.Arg2268=)
n.6154G=
c.6812G= (p.Arg2271=)
c.6689G= (p.Arg2230=)
n.939G=
c.4295G= (p.Arg1432=)
c.6908G= (p.Arg2303=)
c.4718G= (p.Arg1573=)
c.4394G= (p.Arg1465=)
11g.118502704G>TCA382803067KMT2Ac.6911G>T (p.Arg2304Met)
c.6902G>T (p.Arg2301Met)
c.851G>T (p.Arg284Met)
c.1109G>T (p.Arg370Met)
c.6884G>T (p.Arg2295Met)
c.6803G>T (p.Arg2268Met)
n.6154G>T
c.6812G>T (p.Arg2271Met)
c.6689G>T (p.Arg2230Met)
n.939G>T
c.4295G>T (p.Arg1432Met)
c.6908G>T (p.Arg2303Met)
c.4718G>T (p.Arg1573Met)
c.4394G>T (p.Arg1465Met)
11g.118502705G>ACA477359214KMT2Ac.6912G>A (p.Arg2304=)
c.6903G>A (p.Arg2301=)
c.852G>A (p.Arg284=)
c.1110G>A (p.Arg370=)
c.6885G>A (p.Arg2295=)
c.6804G>A (p.Arg2268=)
n.6155G>A
c.6813G>A (p.Arg2271=)
c.6690G>A (p.Arg2230=)
n.940G>A
c.4296G>A (p.Arg1432=)
c.6909G>A (p.Arg2303=)
c.4719G>A (p.Arg1573=)
c.4395G>A (p.Arg1465=)
ClinVar dbSNP gnomAD v4
11g.118502705G>CCA382803070KMT2Ac.6912G>C (p.Arg2304Ser)
c.6903G>C (p.Arg2301Ser)
c.852G>C (p.Arg284Ser)
c.1110G>C (p.Arg370Ser)
c.6885G>C (p.Arg2295Ser)
c.6804G>C (p.Arg2268Ser)
n.6155G>C
c.6813G>C (p.Arg2271Ser)
c.6690G>C (p.Arg2230Ser)
n.940G>C
c.4296G>C (p.Arg1432Ser)
c.6909G>C (p.Arg2303Ser)
c.4719G>C (p.Arg1573Ser)
c.4395G>C (p.Arg1465Ser)
11g.118502705G>TCA382803071KMT2Ac.6912G>T (p.Arg2304Ser)
c.6903G>T (p.Arg2301Ser)
c.852G>T (p.Arg284Ser)
c.1110G>T (p.Arg370Ser)
c.6885G>T (p.Arg2295Ser)
c.6804G>T (p.Arg2268Ser)
n.6155G>T
c.6813G>T (p.Arg2271Ser)
c.6690G>T (p.Arg2230Ser)
n.940G>T
c.4296G>T (p.Arg1432Ser)
c.6909G>T (p.Arg2303Ser)
c.4719G>T (p.Arg1573Ser)
c.4395G>T (p.Arg1465Ser)
11g.118502706A>CCA382803073KMT2Ac.6913A>C (p.Thr2305Pro)
c.6904A>C (p.Thr2302Pro)
c.853A>C (p.Thr285Pro)
c.1111A>C (p.Thr371Pro)
c.6886A>C (p.Thr2296Pro)
c.6805A>C (p.Thr2269Pro)
n.6156A>C
c.6814A>C (p.Thr2272Pro)
c.6691A>C (p.Thr2231Pro)
n.941A>C
c.4297A>C (p.Thr1433Pro)
c.6910A>C (p.Thr2304Pro)
c.4720A>C (p.Thr1574Pro)
c.4396A>C (p.Thr1466Pro)
11g.118502706A>GCA382803077KMT2Ac.6913A>G (p.Thr2305Ala)
c.6904A>G (p.Thr2302Ala)
c.853A>G (p.Thr285Ala)
c.1111A>G (p.Thr371Ala)
c.6886A>G (p.Thr2296Ala)
c.6805A>G (p.Thr2269Ala)
n.6156A>G
c.6814A>G (p.Thr2272Ala)
c.6691A>G (p.Thr2231Ala)
n.941A>G
c.4297A>G (p.Thr1433Ala)
c.6910A>G (p.Thr2304Ala)
c.4720A>G (p.Thr1574Ala)
c.4396A>G (p.Thr1466Ala)
11g.118502706A>TCA382803075KMT2Ac.6913A>T (p.Thr2305Ser)
c.6904A>T (p.Thr2302Ser)
c.853A>T (p.Thr285Ser)
c.1111A>T (p.Thr371Ser)
c.6886A>T (p.Thr2296Ser)
c.6805A>T (p.Thr2269Ser)
n.6156A>T
c.6814A>T (p.Thr2272Ser)
c.6691A>T (p.Thr2231Ser)
n.941A>T
c.4297A>T (p.Thr1433Ser)
c.6910A>T (p.Thr2304Ser)
c.4720A>T (p.Thr1574Ser)
c.4396A>T (p.Thr1466Ser)
11g.118502707C>ACA382803079KMT2Ac.6914C>A (p.Thr2305Lys)
c.6905C>A (p.Thr2302Lys)
c.854C>A (p.Thr285Lys)
c.1112C>A (p.Thr371Lys)
c.6887C>A (p.Thr2296Lys)
c.6806C>A (p.Thr2269Lys)
n.6157C>A
c.6815C>A (p.Thr2272Lys)
c.6692C>A (p.Thr2231Lys)
n.942C>A
c.4298C>A (p.Thr1433Lys)
c.6911C>A (p.Thr2304Lys)
c.4721C>A (p.Thr1574Lys)
c.4397C>A (p.Thr1466Lys)
11g.118502707C=CA2003526686KMT2Ac.6914C= (p.Thr2305=)
c.6905C= (p.Thr2302=)
c.854C= (p.Thr285=)
c.1112C= (p.Thr371=)
c.6887C= (p.Thr2296=)
c.6806C= (p.Thr2269=)
n.6157C=
c.6815C= (p.Thr2272=)
c.6692C= (p.Thr2231=)
n.942C=
c.4298C= (p.Thr1433=)
c.6911C= (p.Thr2304=)
c.4721C= (p.Thr1574=)
c.4397C= (p.Thr1466=)
11g.118502707C>GCA382803081KMT2Ac.6914C>G (p.Thr2305Arg)
c.6905C>G (p.Thr2302Arg)
c.854C>G (p.Thr285Arg)
c.1112C>G (p.Thr371Arg)
c.6887C>G (p.Thr2296Arg)
c.6806C>G (p.Thr2269Arg)
n.6157C>G
c.6815C>G (p.Thr2272Arg)
c.6692C>G (p.Thr2231Arg)
n.942C>G
c.4298C>G (p.Thr1433Arg)
c.6911C>G (p.Thr2304Arg)
c.4721C>G (p.Thr1574Arg)
c.4397C>G (p.Thr1466Arg)
dbSNP
11g.118502707C>TCA382803083KMT2Ac.6914C>T (p.Thr2305Ile)
c.6905C>T (p.Thr2302Ile)
c.854C>T (p.Thr285Ile)
c.1112C>T (p.Thr371Ile)
c.6887C>T (p.Thr2296Ile)
c.6806C>T (p.Thr2269Ile)
n.6157C>T
c.6815C>T (p.Thr2272Ile)
c.6692C>T (p.Thr2231Ile)
n.942C>T
c.4298C>T (p.Thr1433Ile)
c.6911C>T (p.Thr2304Ile)
c.4721C>T (p.Thr1574Ile)
c.4397C>T (p.Thr1466Ile)
ClinVar dbSNP
11g.118502708A=CA2003526692KMT2Ac.6915A= (p.Thr2305=)
c.6906A= (p.Thr2302=)
c.855A= (p.Thr285=)
c.1113A= (p.Thr371=)
c.6888A= (p.Thr2296=)
c.6807A= (p.Thr2269=)
n.6158A=
c.6816A= (p.Thr2272=)
c.6693A= (p.Thr2231=)
n.943A=
c.4299A= (p.Thr1433=)
c.6912A= (p.Thr2304=)
c.4722A= (p.Thr1574=)
c.4398A= (p.Thr1466=)
11g.118502708A>CCA477359215KMT2Ac.6915A>C (p.Thr2305=)
c.6906A>C (p.Thr2302=)
c.855A>C (p.Thr285=)
c.1113A>C (p.Thr371=)
c.6888A>C (p.Thr2296=)
c.6807A>C (p.Thr2269=)
n.6158A>C
c.6816A>C (p.Thr2272=)
c.6693A>C (p.Thr2231=)
n.943A>C
c.4299A>C (p.Thr1433=)
c.6912A>C (p.Thr2304=)
c.4722A>C (p.Thr1574=)
c.4398A>C (p.Thr1466=)
11g.118502708A>GCA6304314KMT2Ac.6915A>G (p.Thr2305=)
c.6906A>G (p.Thr2302=)
c.855A>G (p.Thr285=)
c.1113A>G (p.Thr371=)
c.6888A>G (p.Thr2296=)
c.6807A>G (p.Thr2269=)
n.6158A>G
c.6816A>G (p.Thr2272=)
c.6693A>G (p.Thr2231=)
n.943A>G
c.4299A>G (p.Thr1433=)
c.6912A>G (p.Thr2304=)
c.4722A>G (p.Thr1574=)
c.4398A>G (p.Thr1466=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502708A>TCA477359216KMT2Ac.6915A>T (p.Thr2305=)
c.6906A>T (p.Thr2302=)
c.855A>T (p.Thr285=)
c.1113A>T (p.Thr371=)
c.6888A>T (p.Thr2296=)
c.6807A>T (p.Thr2269=)
n.6158A>T
c.6816A>T (p.Thr2272=)
c.6693A>T (p.Thr2231=)
n.943A>T
c.4299A>T (p.Thr1433=)
c.6912A>T (p.Thr2304=)
c.4722A>T (p.Thr1574=)
c.4398A>T (p.Thr1466=)
11g.118502709G>ACA382803086KMT2Ac.6916G>A (p.Val2306Met)
c.6907G>A (p.Val2303Met)
c.856G>A (p.Val286Met)
c.1114G>A (p.Val372Met)
c.6889G>A (p.Val2297Met)
c.6808G>A (p.Val2270Met)
n.6159G>A
c.6817G>A (p.Val2273Met)
c.6694G>A (p.Val2232Met)
n.944G>A
c.4300G>A (p.Val1434Met)
c.6913G>A (p.Val2305Met)
c.4723G>A (p.Val1575Met)
c.4399G>A (p.Val1467Met)
11g.118502709G>CCA382803089KMT2Ac.6916G>C (p.Val2306Leu)
c.6907G>C (p.Val2303Leu)
c.856G>C (p.Val286Leu)
c.1114G>C (p.Val372Leu)
c.6889G>C (p.Val2297Leu)
c.6808G>C (p.Val2270Leu)
n.6159G>C
c.6817G>C (p.Val2273Leu)
c.6694G>C (p.Val2232Leu)
n.944G>C
c.4300G>C (p.Val1434Leu)
c.6913G>C (p.Val2305Leu)
c.4723G>C (p.Val1575Leu)
c.4399G>C (p.Val1467Leu)
gnomAD v4
11g.118502709G>TCA382803088KMT2Ac.6916G>T (p.Val2306Leu)
c.6907G>T (p.Val2303Leu)
c.856G>T (p.Val286Leu)
c.1114G>T (p.Val372Leu)
c.6889G>T (p.Val2297Leu)
c.6808G>T (p.Val2270Leu)
n.6159G>T
c.6817G>T (p.Val2273Leu)
c.6694G>T (p.Val2232Leu)
n.944G>T
c.4300G>T (p.Val1434Leu)
c.6913G>T (p.Val2305Leu)
c.4723G>T (p.Val1575Leu)
c.4399G>T (p.Val1467Leu)
11g.118502710T>ACA382803091KMT2Ac.6917T>A (p.Val2306Glu)
c.6908T>A (p.Val2303Glu)
c.857T>A (p.Val286Glu)
c.1115T>A (p.Val372Glu)
c.6890T>A (p.Val2297Glu)
c.6809T>A (p.Val2270Glu)
n.6160T>A
c.6818T>A (p.Val2273Glu)
c.6695T>A (p.Val2232Glu)
n.945T>A
c.4301T>A (p.Val1434Glu)
c.6914T>A (p.Val2305Glu)
c.4724T>A (p.Val1575Glu)
c.4400T>A (p.Val1467Glu)
11g.118502710T>CCA382803093KMT2Ac.6917T>C (p.Val2306Ala)
c.6908T>C (p.Val2303Ala)
c.857T>C (p.Val286Ala)
c.1115T>C (p.Val372Ala)
c.6890T>C (p.Val2297Ala)
c.6809T>C (p.Val2270Ala)
n.6160T>C
c.6818T>C (p.Val2273Ala)
c.6695T>C (p.Val2232Ala)
n.945T>C
c.4301T>C (p.Val1434Ala)
c.6914T>C (p.Val2305Ala)
c.4724T>C (p.Val1575Ala)
c.4400T>C (p.Val1467Ala)
dbSNP gnomAD v3 gnomAD v4
11g.118502710T>GCA382803095KMT2Ac.6917T>G (p.Val2306Gly)
c.6908T>G (p.Val2303Gly)
c.857T>G (p.Val286Gly)
c.1115T>G (p.Val372Gly)
c.6890T>G (p.Val2297Gly)
c.6809T>G (p.Val2270Gly)
n.6160T>G
c.6818T>G (p.Val2273Gly)
c.6695T>G (p.Val2232Gly)
n.945T>G
c.4301T>G (p.Val1434Gly)
c.6914T>G (p.Val2305Gly)
c.4724T>G (p.Val1575Gly)
c.4400T>G (p.Val1467Gly)
11g.118502710T=CA2003526700KMT2Ac.6917T= (p.Val2306=)
c.6908T= (p.Val2303=)
c.857T= (p.Val286=)
c.1115T= (p.Val372=)
c.6890T= (p.Val2297=)
c.6809T= (p.Val2270=)
n.6160T=
c.6818T= (p.Val2273=)
c.6695T= (p.Val2232=)
n.945T=
c.4301T= (p.Val1434=)
c.6914T= (p.Val2305=)
c.4724T= (p.Val1575=)
c.4400T= (p.Val1467=)
11g.118502711G>ACA6304315KMT2Ac.6918G>A (p.Val2306=)
c.6909G>A (p.Val2303=)
c.858G>A (p.Val286=)
c.1116G>A (p.Val372=)
c.6891G>A (p.Val2297=)
c.6810G>A (p.Val2270=)
n.6161G>A
c.6819G>A (p.Val2273=)
c.6696G>A (p.Val2232=)
n.946G>A
c.4302G>A (p.Val1434=)
c.6915G>A (p.Val2305=)
c.4725G>A (p.Val1575=)
c.4401G>A (p.Val1467=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502711G>CCA477359218KMT2Ac.6918G>C (p.Val2306=)
c.6909G>C (p.Val2303=)
c.858G>C (p.Val286=)
c.1116G>C (p.Val372=)
c.6891G>C (p.Val2297=)
c.6810G>C (p.Val2270=)
n.6161G>C
c.6819G>C (p.Val2273=)
c.6696G>C (p.Val2232=)
n.946G>C
c.4302G>C (p.Val1434=)
c.6915G>C (p.Val2305=)
c.4725G>C (p.Val1575=)
c.4401G>C (p.Val1467=)
11g.118502711G=CA2003526704KMT2Ac.6918G= (p.Val2306=)
c.6909G= (p.Val2303=)
c.858G= (p.Val286=)
c.1116G= (p.Val372=)
c.6891G= (p.Val2297=)
c.6810G= (p.Val2270=)
n.6161G=
c.6819G= (p.Val2273=)
c.6696G= (p.Val2232=)
n.946G=
c.4302G= (p.Val1434=)
c.6915G= (p.Val2305=)
c.4725G= (p.Val1575=)
c.4401G= (p.Val1467=)
11g.118502711G>TCA477359217KMT2Ac.6918G>T (p.Val2306=)
c.6909G>T (p.Val2303=)
c.858G>T (p.Val286=)
c.1116G>T (p.Val372=)
c.6891G>T (p.Val2297=)
c.6810G>T (p.Val2270=)
n.6161G>T
c.6819G>T (p.Val2273=)
c.6696G>T (p.Val2232=)
n.946G>T
c.4302G>T (p.Val1434=)
c.6915G>T (p.Val2305=)
c.4725G>T (p.Val1575=)
c.4401G>T (p.Val1467=)
11g.118502712G>ACA382803097KMT2Ac.6919G>A (p.Val2307Ile)
c.6910G>A (p.Val2304Ile)
c.859G>A (p.Val287Ile)
c.1117G>A (p.Val373Ile)
c.6892G>A (p.Val2298Ile)
c.6811G>A (p.Val2271Ile)
n.6162G>A
c.6820G>A (p.Val2274Ile)
c.6697G>A (p.Val2233Ile)
n.947G>A
c.4303G>A (p.Val1435Ile)
c.6916G>A (p.Val2306Ile)
c.4726G>A (p.Val1576Ile)
c.4402G>A (p.Val1468Ile)
dbSNP
11g.118502712G>CCA382803099KMT2Ac.6919G>C (p.Val2307Leu)
c.6910G>C (p.Val2304Leu)
c.859G>C (p.Val287Leu)
c.1117G>C (p.Val373Leu)
c.6892G>C (p.Val2298Leu)
c.6811G>C (p.Val2271Leu)
n.6162G>C
c.6820G>C (p.Val2274Leu)
c.6697G>C (p.Val2233Leu)
n.947G>C
c.4303G>C (p.Val1435Leu)
c.6916G>C (p.Val2306Leu)
c.4726G>C (p.Val1576Leu)
c.4402G>C (p.Val1468Leu)
11g.118502712G>TCA382803101KMT2Ac.6919G>T (p.Val2307Phe)
c.6910G>T (p.Val2304Phe)
c.859G>T (p.Val287Phe)
c.1117G>T (p.Val373Phe)
c.6892G>T (p.Val2298Phe)
c.6811G>T (p.Val2271Phe)
n.6162G>T
c.6820G>T (p.Val2274Phe)
c.6697G>T (p.Val2233Phe)
n.947G>T
c.4303G>T (p.Val1435Phe)
c.6916G>T (p.Val2306Phe)
c.4726G>T (p.Val1576Phe)
c.4402G>T (p.Val1468Phe)
gnomAD v4
11g.118502713T>ACA382803103KMT2Ac.6920T>A (p.Val2307Asp)
c.6911T>A (p.Val2304Asp)
c.860T>A (p.Val287Asp)
c.1118T>A (p.Val373Asp)
c.6893T>A (p.Val2298Asp)
c.6812T>A (p.Val2271Asp)
n.6163T>A
c.6821T>A (p.Val2274Asp)
c.6698T>A (p.Val2233Asp)
n.948T>A
c.4304T>A (p.Val1435Asp)
c.6917T>A (p.Val2306Asp)
c.4727T>A (p.Val1576Asp)
c.4403T>A (p.Val1468Asp)
11g.118502713T>CCA382803105KMT2Ac.6920T>C (p.Val2307Ala)
c.6911T>C (p.Val2304Ala)
c.860T>C (p.Val287Ala)
c.1118T>C (p.Val373Ala)
c.6893T>C (p.Val2298Ala)
c.6812T>C (p.Val2271Ala)
n.6163T>C
c.6821T>C (p.Val2274Ala)
c.6698T>C (p.Val2233Ala)
n.948T>C
c.4304T>C (p.Val1435Ala)
c.6917T>C (p.Val2306Ala)
c.4727T>C (p.Val1576Ala)
c.4403T>C (p.Val1468Ala)
11g.118502713T>GCA382803106KMT2Ac.6920T>G (p.Val2307Gly)
c.6911T>G (p.Val2304Gly)
c.860T>G (p.Val287Gly)
c.1118T>G (p.Val373Gly)
c.6893T>G (p.Val2298Gly)
c.6812T>G (p.Val2271Gly)
n.6163T>G
c.6821T>G (p.Val2274Gly)
c.6698T>G (p.Val2233Gly)
n.948T>G
c.4304T>G (p.Val1435Gly)
c.6917T>G (p.Val2306Gly)
c.4727T>G (p.Val1576Gly)
c.4403T>G (p.Val1468Gly)
11g.118502714T>ACA477359219KMT2Ac.6921T>A (p.Val2307=)
c.6912T>A (p.Val2304=)
c.861T>A (p.Val287=)
c.1119T>A (p.Val373=)
c.6894T>A (p.Val2298=)
c.6813T>A (p.Val2271=)
n.6164T>A
c.6822T>A (p.Val2274=)
c.6699T>A (p.Val2233=)
n.949T>A
c.4305T>A (p.Val1435=)
c.6918T>A (p.Val2306=)
c.4728T>A (p.Val1576=)
c.4404T>A (p.Val1468=)
11g.118502714T>CCA477359220KMT2Ac.6921T>C (p.Val2307=)
c.6912T>C (p.Val2304=)
c.861T>C (p.Val287=)
c.1119T>C (p.Val373=)
c.6894T>C (p.Val2298=)
c.6813T>C (p.Val2271=)
n.6164T>C
c.6822T>C (p.Val2274=)
c.6699T>C (p.Val2233=)
n.949T>C
c.4305T>C (p.Val1435=)
c.6918T>C (p.Val2306=)
c.4728T>C (p.Val1576=)
c.4404T>C (p.Val1468=)
11g.118502714T>GCA477359221KMT2Ac.6921T>G (p.Val2307=)
c.6912T>G (p.Val2304=)
c.861T>G (p.Val287=)
c.1119T>G (p.Val373=)
c.6894T>G (p.Val2298=)
c.6813T>G (p.Val2271=)
n.6164T>G
c.6822T>G (p.Val2274=)
c.6699T>G (p.Val2233=)
n.949T>G
c.4305T>G (p.Val1435=)
c.6918T>G (p.Val2306=)
c.4728T>G (p.Val1576=)
c.4404T>G (p.Val1468=)
11g.118502715A>CCA382803112KMT2Ac.6922A>C (p.Thr2308Pro)
c.6913A>C (p.Thr2305Pro)
c.862A>C (p.Thr288Pro)
c.1120A>C (p.Thr374Pro)
c.6895A>C (p.Thr2299Pro)
c.6814A>C (p.Thr2272Pro)
n.6165A>C
c.6823A>C (p.Thr2275Pro)
c.6700A>C (p.Thr2234Pro)
n.950A>C
c.4306A>C (p.Thr1436Pro)
c.6919A>C (p.Thr2307Pro)
c.4729A>C (p.Thr1577Pro)
c.4405A>C (p.Thr1469Pro)
11g.118502715A>GCA382803111KMT2Ac.6922A>G (p.Thr2308Ala)
c.6913A>G (p.Thr2305Ala)
c.862A>G (p.Thr288Ala)
c.1120A>G (p.Thr374Ala)
c.6895A>G (p.Thr2299Ala)
c.6814A>G (p.Thr2272Ala)
n.6165A>G
c.6823A>G (p.Thr2275Ala)
c.6700A>G (p.Thr2234Ala)
n.950A>G
c.4306A>G (p.Thr1436Ala)
c.6919A>G (p.Thr2307Ala)
c.4729A>G (p.Thr1577Ala)
c.4405A>G (p.Thr1469Ala)
11g.118502715A>TCA382803109KMT2Ac.6922A>T (p.Thr2308Ser)
c.6913A>T (p.Thr2305Ser)
c.862A>T (p.Thr288Ser)
c.1120A>T (p.Thr374Ser)
c.6895A>T (p.Thr2299Ser)
c.6814A>T (p.Thr2272Ser)
n.6165A>T
c.6823A>T (p.Thr2275Ser)
c.6700A>T (p.Thr2234Ser)
n.950A>T
c.4306A>T (p.Thr1436Ser)
c.6919A>T (p.Thr2307Ser)
c.4729A>T (p.Thr1577Ser)
c.4405A>T (p.Thr1469Ser)
11g.118502716C>ACA382803114KMT2Ac.6923C>A (p.Thr2308Asn)
c.6914C>A (p.Thr2305Asn)
c.863C>A (p.Thr288Asn)
c.1121C>A (p.Thr374Asn)
c.6896C>A (p.Thr2299Asn)
c.6815C>A (p.Thr2272Asn)
n.6166C>A
c.6824C>A (p.Thr2275Asn)
c.6701C>A (p.Thr2234Asn)
n.951C>A
c.4307C>A (p.Thr1436Asn)
c.6920C>A (p.Thr2307Asn)
c.4730C>A (p.Thr1577Asn)
c.4406C>A (p.Thr1469Asn)
11g.118502716C>GCA382803118KMT2Ac.6923C>G (p.Thr2308Ser)
c.6914C>G (p.Thr2305Ser)
c.863C>G (p.Thr288Ser)
c.1121C>G (p.Thr374Ser)
c.6896C>G (p.Thr2299Ser)
c.6815C>G (p.Thr2272Ser)
n.6166C>G
c.6824C>G (p.Thr2275Ser)
c.6701C>G (p.Thr2234Ser)
n.951C>G
c.4307C>G (p.Thr1436Ser)
c.6920C>G (p.Thr2307Ser)
c.4730C>G (p.Thr1577Ser)
c.4406C>G (p.Thr1469Ser)
dbSNP
11g.118502716C>TCA382803116KMT2Ac.6923C>T (p.Thr2308Ile)
c.6914C>T (p.Thr2305Ile)
c.863C>T (p.Thr288Ile)
c.1121C>T (p.Thr374Ile)
c.6896C>T (p.Thr2299Ile)
c.6815C>T (p.Thr2272Ile)
n.6166C>T
c.6824C>T (p.Thr2275Ile)
c.6701C>T (p.Thr2234Ile)
n.951C>T
c.4307C>T (p.Thr1436Ile)
c.6920C>T (p.Thr2307Ile)
c.4730C>T (p.Thr1577Ile)
c.4406C>T (p.Thr1469Ile)
dbSNP
11g.118502717T>ACA477359222KMT2Ac.6924T>A (p.Thr2308=)
c.6915T>A (p.Thr2305=)
c.864T>A (p.Thr288=)
c.1122T>A (p.Thr374=)
c.6897T>A (p.Thr2299=)
c.6816T>A (p.Thr2272=)
n.6167T>A
c.6825T>A (p.Thr2275=)
c.6702T>A (p.Thr2234=)
n.952T>A
c.4308T>A (p.Thr1436=)
c.6921T>A (p.Thr2307=)
c.4731T>A (p.Thr1577=)
c.4407T>A (p.Thr1469=)
11g.118502717T>CCA6304316KMT2Ac.6924T>C (p.Thr2308=)
c.6915T>C (p.Thr2305=)
c.864T>C (p.Thr288=)
c.1122T>C (p.Thr374=)
c.6897T>C (p.Thr2299=)
c.6816T>C (p.Thr2272=)
n.6167T>C
c.6825T>C (p.Thr2275=)
c.6702T>C (p.Thr2234=)
n.952T>C
c.4308T>C (p.Thr1436=)
c.6921T>C (p.Thr2307=)
c.4731T>C (p.Thr1577=)
c.4407T>C (p.Thr1469=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502717T>GCA477359223KMT2Ac.6924T>G (p.Thr2308=)
c.6915T>G (p.Thr2305=)
c.864T>G (p.Thr288=)
c.1122T>G (p.Thr374=)
c.6897T>G (p.Thr2299=)
c.6816T>G (p.Thr2272=)
n.6167T>G
c.6825T>G (p.Thr2275=)
c.6702T>G (p.Thr2234=)
n.952T>G
c.4308T>G (p.Thr1436=)
c.6921T>G (p.Thr2307=)
c.4731T>G (p.Thr1577=)
c.4407T>G (p.Thr1469=)
11g.118502717T=CA2003526709KMT2Ac.6924T= (p.Thr2308=)
c.6915T= (p.Thr2305=)
c.864T= (p.Thr288=)
c.1122T= (p.Thr374=)
c.6897T= (p.Thr2299=)
c.6816T= (p.Thr2272=)
n.6167T=
c.6825T= (p.Thr2275=)
c.6702T= (p.Thr2234=)
n.952T=
c.4308T= (p.Thr1436=)
c.6921T= (p.Thr2307=)
c.4731T= (p.Thr1577=)
c.4407T= (p.Thr1469=)
11g.118502718G>ACA382803121KMT2Ac.6925G>A (p.Val2309Ile)
c.6916G>A (p.Val2306Ile)
c.865G>A (p.Val289Ile)
c.1123G>A (p.Val375Ile)
c.6898G>A (p.Val2300Ile)
c.6817G>A (p.Val2273Ile)
n.6168G>A
c.6826G>A (p.Val2276Ile)
c.6703G>A (p.Val2235Ile)
n.953G>A
c.4309G>A (p.Val1437Ile)
c.6922G>A (p.Val2308Ile)
c.4732G>A (p.Val1578Ile)
c.4408G>A (p.Val1470Ile)
dbSNP
11g.118502718G>CCA382803122KMT2Ac.6925G>C (p.Val2309Leu)
c.6916G>C (p.Val2306Leu)
c.865G>C (p.Val289Leu)
c.1123G>C (p.Val375Leu)
c.6898G>C (p.Val2300Leu)
c.6817G>C (p.Val2273Leu)
n.6168G>C
c.6826G>C (p.Val2276Leu)
c.6703G>C (p.Val2235Leu)
n.953G>C
c.4309G>C (p.Val1437Leu)
c.6922G>C (p.Val2308Leu)
c.4732G>C (p.Val1578Leu)
c.4408G>C (p.Val1470Leu)
11g.118502718G>TCA382803124KMT2Ac.6925G>T (p.Val2309Leu)
c.6916G>T (p.Val2306Leu)
c.865G>T (p.Val289Leu)
c.1123G>T (p.Val375Leu)
c.6898G>T (p.Val2300Leu)
c.6817G>T (p.Val2273Leu)
n.6168G>T
c.6826G>T (p.Val2276Leu)
c.6703G>T (p.Val2235Leu)
n.953G>T
c.4309G>T (p.Val1437Leu)
c.6922G>T (p.Val2308Leu)
c.4732G>T (p.Val1578Leu)
c.4408G>T (p.Val1470Leu)
11g.118502719T>ACA382803126KMT2Ac.6926T>A (p.Val2309Glu)
c.6917T>A (p.Val2306Glu)
c.866T>A (p.Val289Glu)
c.1124T>A (p.Val375Glu)
c.6899T>A (p.Val2300Glu)
c.6818T>A (p.Val2273Glu)
n.6169T>A
c.6827T>A (p.Val2276Glu)
c.6704T>A (p.Val2235Glu)
n.954T>A
c.4310T>A (p.Val1437Glu)
c.6923T>A (p.Val2308Glu)
c.4733T>A (p.Val1578Glu)
c.4409T>A (p.Val1470Glu)
11g.118502719T>CCA382803128KMT2Ac.6926T>C (p.Val2309Ala)
c.6917T>C (p.Val2306Ala)
c.866T>C (p.Val289Ala)
c.1124T>C (p.Val375Ala)
c.6899T>C (p.Val2300Ala)
c.6818T>C (p.Val2273Ala)
n.6169T>C
c.6827T>C (p.Val2276Ala)
c.6704T>C (p.Val2235Ala)
n.954T>C
c.4310T>C (p.Val1437Ala)
c.6923T>C (p.Val2308Ala)
c.4733T>C (p.Val1578Ala)
c.4409T>C (p.Val1470Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118502719T>GCA382803129KMT2Ac.6926T>G (p.Val2309Gly)
c.6917T>G (p.Val2306Gly)
c.866T>G (p.Val289Gly)
c.1124T>G (p.Val375Gly)
c.6899T>G (p.Val2300Gly)
c.6818T>G (p.Val2273Gly)
n.6169T>G
c.6827T>G (p.Val2276Gly)
c.6704T>G (p.Val2235Gly)
n.954T>G
c.4310T>G (p.Val1437Gly)
c.6923T>G (p.Val2308Gly)
c.4733T>G (p.Val1578Gly)
c.4409T>G (p.Val1470Gly)
11g.118502719T=CA2003526714KMT2Ac.6926T= (p.Val2309=)
c.6917T= (p.Val2306=)
c.866T= (p.Val289=)
c.1124T= (p.Val375=)
c.6899T= (p.Val2300=)
c.6818T= (p.Val2273=)
n.6169T=
c.6827T= (p.Val2276=)
c.6704T= (p.Val2235=)
n.954T=
c.4310T= (p.Val1437=)
c.6923T= (p.Val2308=)
c.4733T= (p.Val1578=)
c.4409T= (p.Val1470=)
11g.118502720A>CCA477359226KMT2Ac.6927A>C (p.Val2309=)
c.6918A>C (p.Val2306=)
c.867A>C (p.Val289=)
c.1125A>C (p.Val375=)
c.6900A>C (p.Val2300=)
c.6819A>C (p.Val2273=)
n.6170A>C
c.6828A>C (p.Val2276=)
c.6705A>C (p.Val2235=)
n.955A>C
c.4311A>C (p.Val1437=)
c.6924A>C (p.Val2308=)
c.4734A>C (p.Val1578=)
c.4410A>C (p.Val1470=)
11g.118502720A>GCA477359225KMT2Ac.6927A>G (p.Val2309=)
c.6918A>G (p.Val2306=)
c.867A>G (p.Val289=)
c.1125A>G (p.Val375=)
c.6900A>G (p.Val2300=)
c.6819A>G (p.Val2273=)
n.6170A>G
c.6828A>G (p.Val2276=)
c.6705A>G (p.Val2235=)
n.955A>G
c.4311A>G (p.Val1437=)
c.6924A>G (p.Val2308=)
c.4734A>G (p.Val1578=)
c.4410A>G (p.Val1470=)
11g.118502720A>TCA477359224KMT2Ac.6927A>T (p.Val2309=)
c.6918A>T (p.Val2306=)
c.867A>T (p.Val289=)
c.1125A>T (p.Val375=)
c.6900A>T (p.Val2300=)
c.6819A>T (p.Val2273=)
n.6170A>T
c.6828A>T (p.Val2276=)
c.6705A>T (p.Val2235=)
n.955A>T
c.4311A>T (p.Val1437=)
c.6924A>T (p.Val2308=)
c.4734A>T (p.Val1578=)
c.4410A>T (p.Val1470=)
11g.118502721G>ACA382803131KMT2Ac.6928G>A (p.Gly2310Ser)
c.6919G>A (p.Gly2307Ser)
c.868G>A (p.Gly290Ser)
c.1126G>A (p.Gly376Ser)
c.6901G>A (p.Gly2301Ser)
c.6820G>A (p.Gly2274Ser)
n.6171G>A
c.6829G>A (p.Gly2277Ser)
c.6706G>A (p.Gly2236Ser)
n.956G>A
c.4312G>A (p.Gly1438Ser)
c.6925G>A (p.Gly2309Ser)
c.4735G>A (p.Gly1579Ser)
c.4411G>A (p.Gly1471Ser)
11g.118502721G>CCA382803132KMT2Ac.6928G>C (p.Gly2310Arg)
c.6919G>C (p.Gly2307Arg)
c.868G>C (p.Gly290Arg)
c.1126G>C (p.Gly376Arg)
c.6901G>C (p.Gly2301Arg)
c.6820G>C (p.Gly2274Arg)
n.6171G>C
c.6829G>C (p.Gly2277Arg)
c.6706G>C (p.Gly2236Arg)
n.956G>C
c.4312G>C (p.Gly1438Arg)
c.6925G>C (p.Gly2309Arg)
c.4735G>C (p.Gly1579Arg)
c.4411G>C (p.Gly1471Arg)
COSMIC
11g.118502721G=CA2003526717KMT2Ac.6928G= (p.Gly2310=)
c.6919G= (p.Gly2307=)
c.868G= (p.Gly290=)
c.1126G= (p.Gly376=)
c.6901G= (p.Gly2301=)
c.6820G= (p.Gly2274=)
n.6171G=
c.6829G= (p.Gly2277=)
c.6706G= (p.Gly2236=)
n.956G=
c.4312G= (p.Gly1438=)
c.6925G= (p.Gly2309=)
c.4735G= (p.Gly1579=)
c.4411G= (p.Gly1471=)
11g.118502721G>TCA382803134KMT2Ac.6928G>T (p.Gly2310Cys)
c.6919G>T (p.Gly2307Cys)
c.868G>T (p.Gly290Cys)
c.1126G>T (p.Gly376Cys)
c.6901G>T (p.Gly2301Cys)
c.6820G>T (p.Gly2274Cys)
n.6171G>T
c.6829G>T (p.Gly2277Cys)
c.6706G>T (p.Gly2236Cys)
n.956G>T
c.4312G>T (p.Gly1438Cys)
c.6925G>T (p.Gly2309Cys)
c.4735G>T (p.Gly1579Cys)
c.4411G>T (p.Gly1471Cys)
dbSNP
11g.118502722G>ACA382803136KMT2Ac.6929G>A (p.Gly2310Asp)
c.6920G>A (p.Gly2307Asp)
c.869G>A (p.Gly290Asp)
c.1127G>A (p.Gly376Asp)
c.6902G>A (p.Gly2301Asp)
c.6821G>A (p.Gly2274Asp)
n.6172G>A
c.6830G>A (p.Gly2277Asp)
c.6707G>A (p.Gly2236Asp)
n.957G>A
c.4313G>A (p.Gly1438Asp)
c.6926G>A (p.Gly2309Asp)
c.4736G>A (p.Gly1579Asp)
c.4412G>A (p.Gly1471Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118502722G>CCA382803138KMT2Ac.6929G>C (p.Gly2310Ala)
c.6920G>C (p.Gly2307Ala)
c.869G>C (p.Gly290Ala)
c.1127G>C (p.Gly376Ala)
c.6902G>C (p.Gly2301Ala)
c.6821G>C (p.Gly2274Ala)
n.6172G>C
c.6830G>C (p.Gly2277Ala)
c.6707G>C (p.Gly2236Ala)
n.957G>C
c.4313G>C (p.Gly1438Ala)
c.6926G>C (p.Gly2309Ala)
c.4736G>C (p.Gly1579Ala)
c.4412G>C (p.Gly1471Ala)
11g.118502722G=CA2003526722KMT2Ac.6929G= (p.Gly2310=)
c.6920G= (p.Gly2307=)
c.869G= (p.Gly290=)
c.1127G= (p.Gly376=)
c.6902G= (p.Gly2301=)
c.6821G= (p.Gly2274=)
n.6172G=
c.6830G= (p.Gly2277=)
c.6707G= (p.Gly2236=)
n.957G=
c.4313G= (p.Gly1438=)
c.6926G= (p.Gly2309=)
c.4736G= (p.Gly1579=)
c.4412G= (p.Gly1471=)
11g.118502722G>TCA382803139KMT2Ac.6929G>T (p.Gly2310Val)
c.6920G>T (p.Gly2307Val)
c.869G>T (p.Gly290Val)
c.1127G>T (p.Gly376Val)
c.6902G>T (p.Gly2301Val)
c.6821G>T (p.Gly2274Val)
n.6172G>T
c.6830G>T (p.Gly2277Val)
c.6707G>T (p.Gly2236Val)
n.957G>T
c.4313G>T (p.Gly1438Val)
c.6926G>T (p.Gly2309Val)
c.4736G>T (p.Gly1579Val)
c.4412G>T (p.Gly1471Val)
11g.118502723C>ACA477359227KMT2Ac.6930C>A (p.Gly2310=)
c.6921C>A (p.Gly2307=)
c.870C>A (p.Gly290=)
c.1128C>A (p.Gly376=)
c.6903C>A (p.Gly2301=)
c.6822C>A (p.Gly2274=)
n.6173C>A
c.6831C>A (p.Gly2277=)
c.6708C>A (p.Gly2236=)
n.958C>A
c.4314C>A (p.Gly1438=)
c.6927C>A (p.Gly2309=)
c.4737C>A (p.Gly1579=)
c.4413C>A (p.Gly1471=)
11g.118502723C>GCA477359228KMT2Ac.6930C>G (p.Gly2310=)
c.6921C>G (p.Gly2307=)
c.870C>G (p.Gly290=)
c.1128C>G (p.Gly376=)
c.6903C>G (p.Gly2301=)
c.6822C>G (p.Gly2274=)
n.6173C>G
c.6831C>G (p.Gly2277=)
c.6708C>G (p.Gly2236=)
n.958C>G
c.4314C>G (p.Gly1438=)
c.6927C>G (p.Gly2309=)
c.4737C>G (p.Gly1579=)
c.4413C>G (p.Gly1471=)
dbSNP
11g.118502723C>TCA477359229KMT2Ac.6930C>T (p.Gly2310=)
c.6921C>T (p.Gly2307=)
c.870C>T (p.Gly290=)
c.1128C>T (p.Gly376=)
c.6903C>T (p.Gly2301=)
c.6822C>T (p.Gly2274=)
n.6173C>T
c.6831C>T (p.Gly2277=)
c.6708C>T (p.Gly2236=)
n.958C>T
c.4314C>T (p.Gly1438=)
c.6927C>T (p.Gly2309=)
c.4737C>T (p.Gly1579=)
c.4413C>T (p.Gly1471=)
gnomAD v4
11g.118502724A=CA2003526725KMT2Ac.6931A= (p.Asn2311=)
c.6922A= (p.Asn2308=)
c.871A= (p.Asn291=)
c.1129A= (p.Asn377=)
c.6904A= (p.Asn2302=)
c.6823A= (p.Asn2275=)
n.6174A=
c.6832A= (p.Asn2278=)
c.6709A= (p.Asn2237=)
n.959A=
c.4315A= (p.Asn1439=)
c.6928A= (p.Asn2310=)
c.4738A= (p.Asn1580=)
c.4414A= (p.Asn1472=)
11g.118502724A>CCA382803145KMT2Ac.6931A>C (p.Asn2311His)
c.6922A>C (p.Asn2308His)
c.871A>C (p.Asn291His)
c.1129A>C (p.Asn377His)
c.6904A>C (p.Asn2302His)
c.6823A>C (p.Asn2275His)
n.6174A>C
c.6832A>C (p.Asn2278His)
c.6709A>C (p.Asn2237His)
n.959A>C
c.4315A>C (p.Asn1439His)
c.6928A>C (p.Asn2310His)
c.4738A>C (p.Asn1580His)
c.4414A>C (p.Asn1472His)
11g.118502724A>GCA382803143KMT2Ac.6931A>G (p.Asn2311Asp)
c.6922A>G (p.Asn2308Asp)
c.871A>G (p.Asn291Asp)
c.1129A>G (p.Asn377Asp)
c.6904A>G (p.Asn2302Asp)
c.6823A>G (p.Asn2275Asp)
n.6174A>G
c.6832A>G (p.Asn2278Asp)
c.6709A>G (p.Asn2237Asp)
n.959A>G
c.4315A>G (p.Asn1439Asp)
c.6928A>G (p.Asn2310Asp)
c.4738A>G (p.Asn1580Asp)
c.4414A>G (p.Asn1472Asp)
11g.118502724A>TCA382803141KMT2Ac.6931A>T (p.Asn2311Tyr)
c.6922A>T (p.Asn2308Tyr)
c.871A>T (p.Asn291Tyr)
c.1129A>T (p.Asn377Tyr)
c.6904A>T (p.Asn2302Tyr)
c.6823A>T (p.Asn2275Tyr)
n.6174A>T
c.6832A>T (p.Asn2278Tyr)
c.6709A>T (p.Asn2237Tyr)
n.959A>T
c.4315A>T (p.Asn1439Tyr)
c.6928A>T (p.Asn2310Tyr)
c.4738A>T (p.Asn1580Tyr)
c.4414A>T (p.Asn1472Tyr)
dbSNP gnomAD v2 gnomAD v4
11g.118502725A>CCA382803147KMT2Ac.6932A>C (p.Asn2311Thr)
c.6923A>C (p.Asn2308Thr)
c.872A>C (p.Asn291Thr)
c.1130A>C (p.Asn377Thr)
c.6905A>C (p.Asn2302Thr)
c.6824A>C (p.Asn2275Thr)
n.6175A>C
c.6833A>C (p.Asn2278Thr)
c.6710A>C (p.Asn2237Thr)
n.960A>C
c.4316A>C (p.Asn1439Thr)
c.6929A>C (p.Asn2310Thr)
c.4739A>C (p.Asn1580Thr)
c.4415A>C (p.Asn1472Thr)
11g.118502725A>GCA382803149KMT2Ac.6932A>G (p.Asn2311Ser)
c.6923A>G (p.Asn2308Ser)
c.872A>G (p.Asn291Ser)
c.1130A>G (p.Asn377Ser)
c.6905A>G (p.Asn2302Ser)
c.6824A>G (p.Asn2275Ser)
n.6175A>G
c.6833A>G (p.Asn2278Ser)
c.6710A>G (p.Asn2237Ser)
n.960A>G
c.4316A>G (p.Asn1439Ser)
c.6929A>G (p.Asn2310Ser)
c.4739A>G (p.Asn1580Ser)
c.4415A>G (p.Asn1472Ser)
11g.118502725A>TCA382803150KMT2Ac.6932A>T (p.Asn2311Ile)
c.6923A>T (p.Asn2308Ile)
c.872A>T (p.Asn291Ile)
c.1130A>T (p.Asn377Ile)
c.6905A>T (p.Asn2302Ile)
c.6824A>T (p.Asn2275Ile)
n.6175A>T
c.6833A>T (p.Asn2278Ile)
c.6710A>T (p.Asn2237Ile)
n.960A>T
c.4316A>T (p.Asn1439Ile)
c.6929A>T (p.Asn2310Ile)
c.4739A>T (p.Asn1580Ile)
c.4415A>T (p.Asn1472Ile)
11g.118502726T>ACA382803153KMT2Ac.6933T>A (p.Asn2311Lys)
c.6924T>A (p.Asn2308Lys)
c.873T>A (p.Asn291Lys)
c.1131T>A (p.Asn377Lys)
c.6906T>A (p.Asn2302Lys)
c.6825T>A (p.Asn2275Lys)
n.6176T>A
c.6834T>A (p.Asn2278Lys)
c.6711T>A (p.Asn2237Lys)
n.961T>A
c.4317T>A (p.Asn1439Lys)
c.6930T>A (p.Asn2310Lys)
c.4740T>A (p.Asn1580Lys)
c.4416T>A (p.Asn1472Lys)
COSMIC COSMIC
11g.118502726T>CCA477359230KMT2Ac.6933T>C (p.Asn2311=)
c.6924T>C (p.Asn2308=)
c.873T>C (p.Asn291=)
c.1131T>C (p.Asn377=)
c.6906T>C (p.Asn2302=)
c.6825T>C (p.Asn2275=)
n.6176T>C
c.6834T>C (p.Asn2278=)
c.6711T>C (p.Asn2237=)
n.961T>C
c.4317T>C (p.Asn1439=)
c.6930T>C (p.Asn2310=)
c.4740T>C (p.Asn1580=)
c.4416T>C (p.Asn1472=)
11g.118502726T>GCA382803154KMT2Ac.6933T>G (p.Asn2311Lys)
c.6924T>G (p.Asn2308Lys)
c.873T>G (p.Asn291Lys)
c.1131T>G (p.Asn377Lys)
c.6906T>G (p.Asn2302Lys)
c.6825T>G (p.Asn2275Lys)
n.6176T>G
c.6834T>G (p.Asn2278Lys)
c.6711T>G (p.Asn2237Lys)
n.961T>G
c.4317T>G (p.Asn1439Lys)
c.6930T>G (p.Asn2310Lys)
c.4740T>G (p.Asn1580Lys)
c.4416T>G (p.Asn1472Lys)
11g.118502727A>CCA382803156KMT2Ac.6934A>C (p.Lys2312Gln)
c.6925A>C (p.Lys2309Gln)
c.874A>C (p.Lys292Gln)
c.1132A>C (p.Lys378Gln)
c.6907A>C (p.Lys2303Gln)
c.6826A>C (p.Lys2276Gln)
n.6177A>C
c.6835A>C (p.Lys2279Gln)
c.6712A>C (p.Lys2238Gln)
n.962A>C
c.4318A>C (p.Lys1440Gln)
c.6931A>C (p.Lys2311Gln)
c.4741A>C (p.Lys1581Gln)
c.4417A>C (p.Lys1473Gln)
11g.118502727A>GCA382803157KMT2Ac.6934A>G (p.Lys2312Glu)
c.6925A>G (p.Lys2309Glu)
c.874A>G (p.Lys292Glu)
c.1132A>G (p.Lys378Glu)
c.6907A>G (p.Lys2303Glu)
c.6826A>G (p.Lys2276Glu)
n.6177A>G
c.6835A>G (p.Lys2279Glu)
c.6712A>G (p.Lys2238Glu)
n.962A>G
c.4318A>G (p.Lys1440Glu)
c.6931A>G (p.Lys2311Glu)
c.4741A>G (p.Lys1581Glu)
c.4417A>G (p.Lys1473Glu)
gnomAD v4
11g.118502727A>TCA382803158KMT2Ac.6934A>T (p.Lys2312Ter)
c.6925A>T (p.Lys2309Ter)
c.874A>T (p.Lys292Ter)
c.1132A>T (p.Lys378Ter)
c.6907A>T (p.Lys2303Ter)
c.6826A>T (p.Lys2276Ter)
n.6177A>T
c.6835A>T (p.Lys2279Ter)
c.6712A>T (p.Lys2238Ter)
n.962A>T
c.4318A>T (p.Lys1440Ter)
c.6931A>T (p.Lys2311Ter)
c.4741A>T (p.Lys1581Ter)
c.4417A>T (p.Lys1473Ter)
11g.118502728A>CCA382803160KMT2Ac.6935A>C (p.Lys2312Thr)
c.6926A>C (p.Lys2309Thr)
c.875A>C (p.Lys292Thr)
c.1133A>C (p.Lys378Thr)
c.6908A>C (p.Lys2303Thr)
c.6827A>C (p.Lys2276Thr)
n.6178A>C
c.6836A>C (p.Lys2279Thr)
c.6713A>C (p.Lys2238Thr)
n.963A>C
c.4319A>C (p.Lys1440Thr)
c.6932A>C (p.Lys2311Thr)
c.4742A>C (p.Lys1581Thr)
c.4418A>C (p.Lys1473Thr)
COSMIC COSMIC
11g.118502728A>GCA382803162KMT2Ac.6935A>G (p.Lys2312Arg)
c.6926A>G (p.Lys2309Arg)
c.875A>G (p.Lys292Arg)
c.1133A>G (p.Lys378Arg)
c.6908A>G (p.Lys2303Arg)
c.6827A>G (p.Lys2276Arg)
n.6178A>G
c.6836A>G (p.Lys2279Arg)
c.6713A>G (p.Lys2238Arg)
n.963A>G
c.4319A>G (p.Lys1440Arg)
c.6932A>G (p.Lys2311Arg)
c.4742A>G (p.Lys1581Arg)
c.4418A>G (p.Lys1473Arg)
11g.118502728A>TCA382803163KMT2Ac.6935A>T (p.Lys2312Ile)
c.6926A>T (p.Lys2309Ile)
c.875A>T (p.Lys292Ile)
c.1133A>T (p.Lys378Ile)
c.6908A>T (p.Lys2303Ile)
c.6827A>T (p.Lys2276Ile)
n.6178A>T
c.6836A>T (p.Lys2279Ile)
c.6713A>T (p.Lys2238Ile)
n.963A>T
c.4319A>T (p.Lys1440Ile)
c.6932A>T (p.Lys2311Ile)
c.4742A>T (p.Lys1581Ile)
c.4418A>T (p.Lys1473Ile)
11g.118502729A>CCA382803164KMT2Ac.6936A>C (p.Lys2312Asn)
c.6927A>C (p.Lys2309Asn)
c.876A>C (p.Lys292Asn)
c.1134A>C (p.Lys378Asn)
c.6909A>C (p.Lys2303Asn)
c.6828A>C (p.Lys2276Asn)
n.6179A>C
c.6837A>C (p.Lys2279Asn)
c.6714A>C (p.Lys2238Asn)
n.964A>C
c.4320A>C (p.Lys1440Asn)
c.6933A>C (p.Lys2311Asn)
c.4743A>C (p.Lys1581Asn)
c.4419A>C (p.Lys1473Asn)
11g.118502729A>GCA477359231KMT2Ac.6936A>G (p.Lys2312=)
c.6927A>G (p.Lys2309=)
c.876A>G (p.Lys292=)
c.1134A>G (p.Lys378=)
c.6909A>G (p.Lys2303=)
c.6828A>G (p.Lys2276=)
n.6179A>G
c.6837A>G (p.Lys2279=)
c.6714A>G (p.Lys2238=)
n.964A>G
c.4320A>G (p.Lys1440=)
c.6933A>G (p.Lys2311=)
c.4743A>G (p.Lys1581=)
c.4419A>G (p.Lys1473=)
11g.118502729A>TCA382803166KMT2Ac.6936A>T (p.Lys2312Asn)
c.6927A>T (p.Lys2309Asn)
c.876A>T (p.Lys292Asn)
c.1134A>T (p.Lys378Asn)
c.6909A>T (p.Lys2303Asn)
c.6828A>T (p.Lys2276Asn)
n.6179A>T
c.6837A>T (p.Lys2279Asn)
c.6714A>T (p.Lys2238Asn)
n.964A>T
c.4320A>T (p.Lys1440Asn)
c.6933A>T (p.Lys2311Asn)
c.4743A>T (p.Lys1581Asn)
c.4419A>T (p.Lys1473Asn)
11g.118502730A=CA2003526729KMT2Ac.6937A= (p.Asn2313=)
c.6928A= (p.Asn2310=)
c.877A= (p.Asn293=)
c.1135A= (p.Asn379=)
c.6910A= (p.Asn2304=)
c.6829A= (p.Asn2277=)
n.6180A=
c.6838A= (p.Asn2280=)
c.6715A= (p.Asn2239=)
n.965A=
c.4321A= (p.Asn1441=)
c.6934A= (p.Asn2312=)
c.4744A= (p.Asn1582=)
c.4420A= (p.Asn1474=)
11g.118502730A>CCA382803170KMT2Ac.6937A>C (p.Asn2313His)
c.6928A>C (p.Asn2310His)
c.877A>C (p.Asn293His)
c.1135A>C (p.Asn379His)
c.6910A>C (p.Asn2304His)
c.6829A>C (p.Asn2277His)
n.6180A>C
c.6838A>C (p.Asn2280His)
c.6715A>C (p.Asn2239His)
n.965A>C
c.4321A>C (p.Asn1441His)
c.6934A>C (p.Asn2312His)
c.4744A>C (p.Asn1582His)
c.4420A>C (p.Asn1474His)
11g.118502730A>GCA382803172KMT2Ac.6937A>G (p.Asn2313Asp)
c.6928A>G (p.Asn2310Asp)
c.877A>G (p.Asn293Asp)
c.1135A>G (p.Asn379Asp)
c.6910A>G (p.Asn2304Asp)
c.6829A>G (p.Asn2277Asp)
n.6180A>G
c.6838A>G (p.Asn2280Asp)
c.6715A>G (p.Asn2239Asp)
n.965A>G
c.4321A>G (p.Asn1441Asp)
c.6934A>G (p.Asn2312Asp)
c.4744A>G (p.Asn1582Asp)
c.4420A>G (p.Asn1474Asp)
dbSNP gnomAD v2
11g.118502730A>TCA382803169KMT2Ac.6937A>T (p.Asn2313Tyr)
c.6928A>T (p.Asn2310Tyr)
c.877A>T (p.Asn293Tyr)
c.1135A>T (p.Asn379Tyr)
c.6910A>T (p.Asn2304Tyr)
c.6829A>T (p.Asn2277Tyr)
n.6180A>T
c.6838A>T (p.Asn2280Tyr)
c.6715A>T (p.Asn2239Tyr)
n.965A>T
c.4321A>T (p.Asn1441Tyr)
c.6934A>T (p.Asn2312Tyr)
c.4744A>T (p.Asn1582Tyr)
c.4420A>T (p.Asn1474Tyr)
11g.118502731A>CCA382803174KMT2Ac.6938A>C (p.Asn2313Thr)
c.6929A>C (p.Asn2310Thr)
c.878A>C (p.Asn293Thr)
c.1136A>C (p.Asn379Thr)
c.6911A>C (p.Asn2304Thr)
c.6830A>C (p.Asn2277Thr)
n.6181A>C
c.6839A>C (p.Asn2280Thr)
c.6716A>C (p.Asn2239Thr)
n.966A>C
c.4322A>C (p.Asn1441Thr)
c.6935A>C (p.Asn2312Thr)
c.4745A>C (p.Asn1582Thr)
c.4421A>C (p.Asn1474Thr)
11g.118502731A>GCA382803176KMT2Ac.6938A>G (p.Asn2313Ser)
c.6929A>G (p.Asn2310Ser)
c.878A>G (p.Asn293Ser)
c.1136A>G (p.Asn379Ser)
c.6911A>G (p.Asn2304Ser)
c.6830A>G (p.Asn2277Ser)
n.6181A>G
c.6839A>G (p.Asn2280Ser)
c.6716A>G (p.Asn2239Ser)
n.966A>G
c.4322A>G (p.Asn1441Ser)
c.6935A>G (p.Asn2312Ser)
c.4745A>G (p.Asn1582Ser)
c.4421A>G (p.Asn1474Ser)
ClinVar dbSNP
11g.118502731A>TCA382803177KMT2Ac.6938A>T (p.Asn2313Ile)
c.6929A>T (p.Asn2310Ile)
c.878A>T (p.Asn293Ile)
c.1136A>T (p.Asn379Ile)
c.6911A>T (p.Asn2304Ile)
c.6830A>T (p.Asn2277Ile)
n.6181A>T
c.6839A>T (p.Asn2280Ile)
c.6716A>T (p.Asn2239Ile)
n.966A>T
c.4322A>T (p.Asn1441Ile)
c.6935A>T (p.Asn2312Ile)
c.4745A>T (p.Asn1582Ile)
c.4421A>T (p.Asn1474Ile)
gnomAD v4
11g.118502732C>ACA382803178KMT2Ac.6939C>A (p.Asn2313Lys)
c.6930C>A (p.Asn2310Lys)
c.879C>A (p.Asn293Lys)
c.1137C>A (p.Asn379Lys)
c.6912C>A (p.Asn2304Lys)
c.6831C>A (p.Asn2277Lys)
n.6182C>A
c.6840C>A (p.Asn2280Lys)
c.6717C>A (p.Asn2239Lys)
n.967C>A
c.4323C>A (p.Asn1441Lys)
c.6936C>A (p.Asn2312Lys)
c.4746C>A (p.Asn1582Lys)
c.4422C>A (p.Asn1474Lys)
dbSNP
11g.118502732C>GCA382803179KMT2Ac.6939C>G (p.Asn2313Lys)
c.6930C>G (p.Asn2310Lys)
c.879C>G (p.Asn293Lys)
c.1137C>G (p.Asn379Lys)
c.6912C>G (p.Asn2304Lys)
c.6831C>G (p.Asn2277Lys)
n.6182C>G
c.6840C>G (p.Asn2280Lys)
c.6717C>G (p.Asn2239Lys)
n.967C>G
c.4323C>G (p.Asn1441Lys)
c.6936C>G (p.Asn2312Lys)
c.4746C>G (p.Asn1582Lys)
c.4422C>G (p.Asn1474Lys)
11g.118502732C>TCA477359232KMT2Ac.6939C>T (p.Asn2313=)
c.6930C>T (p.Asn2310=)
c.879C>T (p.Asn293=)
c.1137C>T (p.Asn379=)
c.6912C>T (p.Asn2304=)
c.6831C>T (p.Asn2277=)
n.6182C>T
c.6840C>T (p.Asn2280=)
c.6717C>T (p.Asn2239=)
n.967C>T
c.4323C>T (p.Asn1441=)
c.6936C>T (p.Asn2312=)
c.4746C>T (p.Asn1582=)
c.4422C>T (p.Asn1474=)
ClinVar
11g.118502733A>CCA382803182KMT2Ac.6940A>C (p.Ser2314Arg)
c.6931A>C (p.Ser2311Arg)
c.880A>C (p.Ser294Arg)
c.1138A>C (p.Ser380Arg)
c.6913A>C (p.Ser2305Arg)
c.6832A>C (p.Ser2278Arg)
n.6183A>C
c.6841A>C (p.Ser2281Arg)
c.6718A>C (p.Ser2240Arg)
n.968A>C
c.4324A>C (p.Ser1442Arg)
c.6937A>C (p.Ser2313Arg)
c.4747A>C (p.Ser1583Arg)
c.4423A>C (p.Ser1475Arg)
11g.118502733A>GCA382803183KMT2Ac.6940A>G (p.Ser2314Gly)
c.6931A>G (p.Ser2311Gly)
c.880A>G (p.Ser294Gly)
c.1138A>G (p.Ser380Gly)
c.6913A>G (p.Ser2305Gly)
c.6832A>G (p.Ser2278Gly)
n.6183A>G
c.6841A>G (p.Ser2281Gly)
c.6718A>G (p.Ser2240Gly)
n.968A>G
c.4324A>G (p.Ser1442Gly)
c.6937A>G (p.Ser2313Gly)
c.4747A>G (p.Ser1583Gly)
c.4423A>G (p.Ser1475Gly)
11g.118502733A>TCA382803185KMT2Ac.6940A>T (p.Ser2314Cys)
c.6931A>T (p.Ser2311Cys)
c.880A>T (p.Ser294Cys)
c.1138A>T (p.Ser380Cys)
c.6913A>T (p.Ser2305Cys)
c.6832A>T (p.Ser2278Cys)
n.6183A>T
c.6841A>T (p.Ser2281Cys)
c.6718A>T (p.Ser2240Cys)
n.968A>T
c.4324A>T (p.Ser1442Cys)
c.6937A>T (p.Ser2313Cys)
c.4747A>T (p.Ser1583Cys)
c.4423A>T (p.Ser1475Cys)
11g.118502734G>ACA382803187KMT2Ac.6941G>A (p.Ser2314Asn)
c.6932G>A (p.Ser2311Asn)
c.881G>A (p.Ser294Asn)
c.1139G>A (p.Ser380Asn)
c.6914G>A (p.Ser2305Asn)
c.6833G>A (p.Ser2278Asn)
n.6184G>A
c.6842G>A (p.Ser2281Asn)
c.6719G>A (p.Ser2240Asn)
n.969G>A
c.4325G>A (p.Ser1442Asn)
c.6938G>A (p.Ser2313Asn)
c.4748G>A (p.Ser1583Asn)
c.4424G>A (p.Ser1475Asn)
11g.118502734G>CCA382803189KMT2Ac.6941G>C (p.Ser2314Thr)
c.6932G>C (p.Ser2311Thr)
c.881G>C (p.Ser294Thr)
c.1139G>C (p.Ser380Thr)
c.6914G>C (p.Ser2305Thr)
c.6833G>C (p.Ser2278Thr)
n.6184G>C
c.6842G>C (p.Ser2281Thr)
c.6719G>C (p.Ser2240Thr)
n.969G>C
c.4325G>C (p.Ser1442Thr)
c.6938G>C (p.Ser2313Thr)
c.4748G>C (p.Ser1583Thr)
c.4424G>C (p.Ser1475Thr)
dbSNP
11g.118502734G>TCA382803191KMT2Ac.6941G>T (p.Ser2314Ile)
c.6932G>T (p.Ser2311Ile)
c.881G>T (p.Ser294Ile)
c.1139G>T (p.Ser380Ile)
c.6914G>T (p.Ser2305Ile)
c.6833G>T (p.Ser2278Ile)
n.6184G>T
c.6842G>T (p.Ser2281Ile)
c.6719G>T (p.Ser2240Ile)
n.969G>T
c.4325G>T (p.Ser1442Ile)
c.6938G>T (p.Ser2313Ile)
c.4748G>T (p.Ser1583Ile)
c.4424G>T (p.Ser1475Ile)
11g.118502735T>ACA382803193KMT2Ac.6942T>A (p.Ser2314Arg)
c.6933T>A (p.Ser2311Arg)
c.882T>A (p.Ser294Arg)
c.1140T>A (p.Ser380Arg)
c.6915T>A (p.Ser2305Arg)
c.6834T>A (p.Ser2278Arg)
n.6185T>A
c.6843T>A (p.Ser2281Arg)
c.6720T>A (p.Ser2240Arg)
n.970T>A
c.4326T>A (p.Ser1442Arg)
c.6939T>A (p.Ser2313Arg)
c.4749T>A (p.Ser1583Arg)
c.4425T>A (p.Ser1475Arg)
11g.118502735T>CCA477359233KMT2Ac.6942T>C (p.Ser2314=)
c.6933T>C (p.Ser2311=)
c.882T>C (p.Ser294=)
c.1140T>C (p.Ser380=)
c.6915T>C (p.Ser2305=)
c.6834T>C (p.Ser2278=)
n.6185T>C
c.6843T>C (p.Ser2281=)
c.6720T>C (p.Ser2240=)
n.970T>C
c.4326T>C (p.Ser1442=)
c.6939T>C (p.Ser2313=)
c.4749T>C (p.Ser1583=)
c.4425T>C (p.Ser1475=)
11g.118502735T>GCA382803194KMT2Ac.6942T>G (p.Ser2314Arg)
c.6933T>G (p.Ser2311Arg)
c.882T>G (p.Ser294Arg)
c.1140T>G (p.Ser380Arg)
c.6915T>G (p.Ser2305Arg)
c.6834T>G (p.Ser2278Arg)
n.6185T>G
c.6843T>G (p.Ser2281Arg)
c.6720T>G (p.Ser2240Arg)
n.970T>G
c.4326T>G (p.Ser1442Arg)
c.6939T>G (p.Ser2313Arg)
c.4749T>G (p.Ser1583Arg)
c.4425T>G (p.Ser1475Arg)
11g.118502736C>ACA382803195KMT2Ac.6943C>A (p.His2315Asn)
c.6934C>A (p.His2312Asn)
c.883C>A (p.His295Asn)
c.1141C>A (p.His381Asn)
c.6916C>A (p.His2306Asn)
c.6835C>A (p.His2279Asn)
n.6186C>A
c.6844C>A (p.His2282Asn)
c.6721C>A (p.His2241Asn)
n.971C>A
c.4327C>A (p.His1443Asn)
c.6940C>A (p.His2314Asn)
c.4750C>A (p.His1584Asn)
c.4426C>A (p.His1476Asn)
11g.118502736C=CA2003526732KMT2Ac.6943C= (p.His2315=)
c.6934C= (p.His2312=)
c.883C= (p.His295=)
c.1141C= (p.His381=)
c.6916C= (p.His2306=)
c.6835C= (p.His2279=)
n.6186C=
c.6844C= (p.His2282=)
c.6721C= (p.His2241=)
n.971C=
c.4327C= (p.His1443=)
c.6940C= (p.His2314=)
c.4750C= (p.His1584=)
c.4426C= (p.His1476=)
11g.118502736C>GCA382803197KMT2Ac.6943C>G (p.His2315Asp)
c.6934C>G (p.His2312Asp)
c.883C>G (p.His295Asp)
c.1141C>G (p.His381Asp)
c.6916C>G (p.His2306Asp)
c.6835C>G (p.His2279Asp)
n.6186C>G
c.6844C>G (p.His2282Asp)
c.6721C>G (p.His2241Asp)
n.971C>G
c.4327C>G (p.His1443Asp)
c.6940C>G (p.His2314Asp)
c.4750C>G (p.His1584Asp)
c.4426C>G (p.His1476Asp)
dbSNP
11g.118502736C>TCA382803196KMT2Ac.6943C>T (p.His2315Tyr)
c.6934C>T (p.His2312Tyr)
c.883C>T (p.His295Tyr)
c.1141C>T (p.His381Tyr)
c.6916C>T (p.His2306Tyr)
c.6835C>T (p.His2279Tyr)
n.6186C>T
c.6844C>T (p.His2282Tyr)
c.6721C>T (p.His2241Tyr)
n.971C>T
c.4327C>T (p.His1443Tyr)
c.6940C>T (p.His2314Tyr)
c.4750C>T (p.His1584Tyr)
c.4426C>T (p.His1476Tyr)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.118502737A>CCA382803200KMT2Ac.6944A>C (p.His2315Pro)
c.6935A>C (p.His2312Pro)
c.884A>C (p.His295Pro)
c.1142A>C (p.His381Pro)
c.6917A>C (p.His2306Pro)
c.6836A>C (p.His2279Pro)
n.6187A>C
c.6845A>C (p.His2282Pro)
c.6722A>C (p.His2241Pro)
n.972A>C
c.4328A>C (p.His1443Pro)
c.6941A>C (p.His2314Pro)
c.4751A>C (p.His1584Pro)
c.4427A>C (p.His1476Pro)
11g.118502737A>GCA382803201KMT2Ac.6944A>G (p.His2315Arg)
c.6935A>G (p.His2312Arg)
c.884A>G (p.His295Arg)
c.1142A>G (p.His381Arg)
c.6917A>G (p.His2306Arg)
c.6836A>G (p.His2279Arg)
n.6187A>G
c.6845A>G (p.His2282Arg)
c.6722A>G (p.His2241Arg)
n.972A>G
c.4328A>G (p.His1443Arg)
c.6941A>G (p.His2314Arg)
c.4751A>G (p.His1584Arg)
c.4427A>G (p.His1476Arg)
11g.118502737A>TCA382803203KMT2Ac.6944A>T (p.His2315Leu)
c.6935A>T (p.His2312Leu)
c.884A>T (p.His295Leu)
c.1142A>T (p.His381Leu)
c.6917A>T (p.His2306Leu)
c.6836A>T (p.His2279Leu)
n.6187A>T
c.6845A>T (p.His2282Leu)
c.6722A>T (p.His2241Leu)
n.972A>T
c.4328A>T (p.His1443Leu)
c.6941A>T (p.His2314Leu)
c.4751A>T (p.His1584Leu)
c.4427A>T (p.His1476Leu)
11g.118502738C>ACA382803205KMT2Ac.6945C>A (p.His2315Gln)
c.6936C>A (p.His2312Gln)
c.885C>A (p.His295Gln)
c.1143C>A (p.His381Gln)
c.6918C>A (p.His2306Gln)
c.6837C>A (p.His2279Gln)
n.6188C>A
c.6846C>A (p.His2282Gln)
c.6723C>A (p.His2241Gln)
n.973C>A
c.4329C>A (p.His1443Gln)
c.6942C>A (p.His2314Gln)
c.4752C>A (p.His1584Gln)
c.4428C>A (p.His1476Gln)
11g.118502738C=CA2003526733KMT2Ac.6945C= (p.His2315=)
c.6936C= (p.His2312=)
c.885C= (p.His295=)
c.1143C= (p.His381=)
c.6918C= (p.His2306=)
c.6837C= (p.His2279=)
n.6188C=
c.6846C= (p.His2282=)
c.6723C= (p.His2241=)
n.973C=
c.4329C= (p.His1443=)
c.6942C= (p.His2314=)
c.4752C= (p.His1584=)
c.4428C= (p.His1476=)
11g.118502738C>GCA382803207KMT2Ac.6945C>G (p.His2315Gln)
c.6936C>G (p.His2312Gln)
c.885C>G (p.His295Gln)
c.1143C>G (p.His381Gln)
c.6918C>G (p.His2306Gln)
c.6837C>G (p.His2279Gln)
n.6188C>G
c.6846C>G (p.His2282Gln)
c.6723C>G (p.His2241Gln)
n.973C>G
c.4329C>G (p.His1443Gln)
c.6942C>G (p.His2314Gln)
c.4752C>G (p.His1584Gln)
c.4428C>G (p.His1476Gln)
11g.118502738C>TCA477359234KMT2Ac.6945C>T (p.His2315=)
c.6936C>T (p.His2312=)
c.885C>T (p.His295=)
c.1143C>T (p.His381=)
c.6918C>T (p.His2306=)
c.6837C>T (p.His2279=)
n.6188C>T
c.6846C>T (p.His2282=)
c.6723C>T (p.His2241=)
n.973C>T
c.4329C>T (p.His1443=)
c.6942C>T (p.His2314=)
c.4752C>T (p.His1584=)
c.4428C>T (p.His1476=)
dbSNP gnomAD v2 gnomAD v4
11g.118502739T>ACA382803209KMT2Ac.6946T>A (p.Leu2316Met)
c.6937T>A (p.Leu2313Met)
c.886T>A (p.Leu296Met)
c.1144T>A (p.Leu382Met)
c.6919T>A (p.Leu2307Met)
c.6838T>A (p.Leu2280Met)
n.6189T>A
c.6847T>A (p.Leu2283Met)
c.6724T>A (p.Leu2242Met)
n.974T>A
c.4330T>A (p.Leu1444Met)
c.6943T>A (p.Leu2315Met)
c.4753T>A (p.Leu1585Met)
c.4429T>A (p.Leu1477Met)
11g.118502739T>CCA477359235KMT2Ac.6946T>C (p.Leu2316=)
c.6937T>C (p.Leu2313=)
c.886T>C (p.Leu296=)
c.1144T>C (p.Leu382=)
c.6919T>C (p.Leu2307=)
c.6838T>C (p.Leu2280=)
n.6189T>C
c.6847T>C (p.Leu2283=)
c.6724T>C (p.Leu2242=)
n.974T>C
c.4330T>C (p.Leu1444=)
c.6943T>C (p.Leu2315=)
c.4753T>C (p.Leu1585=)
c.4429T>C (p.Leu1477=)
11g.118502739T>GCA382803211KMT2Ac.6946T>G (p.Leu2316Val)
c.6937T>G (p.Leu2313Val)
c.886T>G (p.Leu296Val)
c.1144T>G (p.Leu382Val)
c.6919T>G (p.Leu2307Val)
c.6838T>G (p.Leu2280Val)
n.6189T>G
c.6847T>G (p.Leu2283Val)
c.6724T>G (p.Leu2242Val)
n.974T>G
c.4330T>G (p.Leu1444Val)
c.6943T>G (p.Leu2315Val)
c.4753T>G (p.Leu1585Val)
c.4429T>G (p.Leu1477Val)
11g.118502740T>ACA382803212KMT2Ac.6947T>A (p.Leu2316Ter)
c.6938T>A (p.Leu2313Ter)
c.887T>A (p.Leu296Ter)
c.1145T>A (p.Leu382Ter)
c.6920T>A (p.Leu2307Ter)
c.6839T>A (p.Leu2280Ter)
n.6190T>A
c.6848T>A (p.Leu2283Ter)
c.6725T>A (p.Leu2242Ter)
n.975T>A
c.4331T>A (p.Leu1444Ter)
c.6944T>A (p.Leu2315Ter)
c.4754T>A (p.Leu1585Ter)
c.4430T>A (p.Leu1477Ter)
11g.118502740T>CCA382803214KMT2Ac.6947T>C (p.Leu2316Ser)
c.6938T>C (p.Leu2313Ser)
c.887T>C (p.Leu296Ser)
c.1145T>C (p.Leu382Ser)
c.6920T>C (p.Leu2307Ser)
c.6839T>C (p.Leu2280Ser)
n.6190T>C
c.6848T>C (p.Leu2283Ser)
c.6725T>C (p.Leu2242Ser)
n.975T>C
c.4331T>C (p.Leu1444Ser)
c.6944T>C (p.Leu2315Ser)
c.4754T>C (p.Leu1585Ser)
c.4430T>C (p.Leu1477Ser)
11g.118502740T>GCA382803216KMT2Ac.6947T>G (p.Leu2316Trp)
c.6938T>G (p.Leu2313Trp)
c.887T>G (p.Leu296Trp)
c.1145T>G (p.Leu382Trp)
c.6920T>G (p.Leu2307Trp)
c.6839T>G (p.Leu2280Trp)
n.6190T>G
c.6848T>G (p.Leu2283Trp)
c.6725T>G (p.Leu2242Trp)
n.975T>G
c.4331T>G (p.Leu1444Trp)
c.6944T>G (p.Leu2315Trp)
c.4754T>G (p.Leu1585Trp)
c.4430T>G (p.Leu1477Trp)
11g.118502741G>ACA477359236KMT2Ac.6948G>A (p.Leu2316=)
c.6939G>A (p.Leu2313=)
c.888G>A (p.Leu296=)
c.1146G>A (p.Leu382=)
c.6921G>A (p.Leu2307=)
c.6840G>A (p.Leu2280=)
n.6191G>A
c.6849G>A (p.Leu2283=)
c.6726G>A (p.Leu2242=)
n.976G>A
c.4332G>A (p.Leu1444=)
c.6945G>A (p.Leu2315=)
c.4755G>A (p.Leu1585=)
c.4431G>A (p.Leu1477=)
11g.118502741G>CCA382803219KMT2Ac.6948G>C (p.Leu2316Phe)
c.6939G>C (p.Leu2313Phe)
c.888G>C (p.Leu296Phe)
c.1146G>C (p.Leu382Phe)
c.6921G>C (p.Leu2307Phe)
c.6840G>C (p.Leu2280Phe)
n.6191G>C
c.6849G>C (p.Leu2283Phe)
c.6726G>C (p.Leu2242Phe)
n.976G>C
c.4332G>C (p.Leu1444Phe)
c.6945G>C (p.Leu2315Phe)
c.4755G>C (p.Leu1585Phe)
c.4431G>C (p.Leu1477Phe)
11g.118502741G>TCA382803218KMT2Ac.6948G>T (p.Leu2316Phe)
c.6939G>T (p.Leu2313Phe)
c.888G>T (p.Leu296Phe)
c.1146G>T (p.Leu382Phe)
c.6921G>T (p.Leu2307Phe)
c.6840G>T (p.Leu2280Phe)
n.6191G>T
c.6849G>T (p.Leu2283Phe)
c.6726G>T (p.Leu2242Phe)
n.976G>T
c.4332G>T (p.Leu1444Phe)
c.6945G>T (p.Leu2315Phe)
c.4755G>T (p.Leu1585Phe)
c.4431G>T (p.Leu1477Phe)
11g.118502741_118502742insAAACA2616265202KMT2Ac.6948_6949insAAA (p.Leu2316_Asp2317insLys)
c.6939_6940insAAA (p.Leu2313_Asp2314insLys)
c.888_889insAAA (p.Leu296_Asp297insLys)
c.1146_1147insAAA (p.Leu382_Asp383insLys)
c.6921_6922insAAA (p.Leu2307_Asp2308insLys)
c.6840_6841insAAA (p.Leu2280_Asp2281insLys)
n.6191_6192insAAA
c.6849_6850insAAA (p.Leu2283_Asp2284insLys)
c.6726_6727insAAA (p.Leu2242_Asp2243insLys)
n.976_977insAAA
c.4332_4333insAAA (p.Leu1444_Asp1445insLys)
c.6945_6946insAAA (p.Leu2315_Asp2316insLys)
c.4755_4756insAAA (p.Leu1585_Asp1586insLys)
c.4431_4432insAAA (p.Leu1477_Asp1478insLys)
gnomAD v4
11g.118502742G>ACA382803223KMT2Ac.6949G>A (p.Asp2317Asn)
c.6940G>A (p.Asp2314Asn)
c.889G>A (p.Asp297Asn)
c.1147G>A (p.Asp383Asn)
c.6922G>A (p.Asp2308Asn)
c.6841G>A (p.Asp2281Asn)
n.6192G>A
c.6850G>A (p.Asp2284Asn)
c.6727G>A (p.Asp2243Asn)
n.977G>A
c.4333G>A (p.Asp1445Asn)
c.6946G>A (p.Asp2316Asn)
c.4756G>A (p.Asp1586Asn)
c.4432G>A (p.Asp1478Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118502742G>CCA382803225KMT2Ac.6949G>C (p.Asp2317His)
c.6940G>C (p.Asp2314His)
c.889G>C (p.Asp297His)
c.1147G>C (p.Asp383His)
c.6922G>C (p.Asp2308His)
c.6841G>C (p.Asp2281His)
n.6192G>C
c.6850G>C (p.Asp2284His)
c.6727G>C (p.Asp2243His)
n.977G>C
c.4333G>C (p.Asp1445His)
c.6946G>C (p.Asp2316His)
c.4756G>C (p.Asp1586His)
c.4432G>C (p.Asp1478His)
11g.118502742G=CA2003526735KMT2Ac.6949G= (p.Asp2317=)
c.6940G= (p.Asp2314=)
c.889G= (p.Asp297=)
c.1147G= (p.Asp383=)
c.6922G= (p.Asp2308=)
c.6841G= (p.Asp2281=)
n.6192G=
c.6850G= (p.Asp2284=)
c.6727G= (p.Asp2243=)
n.977G=
c.4333G= (p.Asp1445=)
c.6946G= (p.Asp2316=)
c.4756G= (p.Asp1586=)
c.4432G= (p.Asp1478=)
11g.118502742G>TCA382803224KMT2Ac.6949G>T (p.Asp2317Tyr)
c.6940G>T (p.Asp2314Tyr)
c.889G>T (p.Asp297Tyr)
c.1147G>T (p.Asp383Tyr)
c.6922G>T (p.Asp2308Tyr)
c.6841G>T (p.Asp2281Tyr)
n.6192G>T
c.6850G>T (p.Asp2284Tyr)
c.6727G>T (p.Asp2243Tyr)
n.977G>T
c.4333G>T (p.Asp1445Tyr)
c.6946G>T (p.Asp2316Tyr)
c.4756G>T (p.Asp1586Tyr)
c.4432G>T (p.Asp1478Tyr)
dbSNP gnomAD v4
11g.118502743A>CCA382803226KMT2Ac.6950A>C (p.Asp2317Ala)
c.6941A>C (p.Asp2314Ala)
c.890A>C (p.Asp297Ala)
c.1148A>C (p.Asp383Ala)
c.6923A>C (p.Asp2308Ala)
c.6842A>C (p.Asp2281Ala)
n.6193A>C
c.6851A>C (p.Asp2284Ala)
c.6728A>C (p.Asp2243Ala)
n.978A>C
c.4334A>C (p.Asp1445Ala)
c.6947A>C (p.Asp2316Ala)
c.4757A>C (p.Asp1586Ala)
c.4433A>C (p.Asp1478Ala)
11g.118502743A>GCA382803228KMT2Ac.6950A>G (p.Asp2317Gly)
c.6941A>G (p.Asp2314Gly)
c.890A>G (p.Asp297Gly)
c.1148A>G (p.Asp383Gly)
c.6923A>G (p.Asp2308Gly)
c.6842A>G (p.Asp2281Gly)
n.6193A>G
c.6851A>G (p.Asp2284Gly)
c.6728A>G (p.Asp2243Gly)
n.978A>G
c.4334A>G (p.Asp1445Gly)
c.6947A>G (p.Asp2316Gly)
c.4757A>G (p.Asp1586Gly)
c.4433A>G (p.Asp1478Gly)
gnomAD v4
11g.118502743A>TCA382803230KMT2Ac.6950A>T (p.Asp2317Val)
c.6941A>T (p.Asp2314Val)
c.890A>T (p.Asp297Val)
c.1148A>T (p.Asp383Val)
c.6923A>T (p.Asp2308Val)
c.6842A>T (p.Asp2281Val)
n.6193A>T
c.6851A>T (p.Asp2284Val)
c.6728A>T (p.Asp2243Val)
n.978A>T
c.4334A>T (p.Asp1445Val)
c.6947A>T (p.Asp2316Val)
c.4757A>T (p.Asp1586Val)
c.4433A>T (p.Asp1478Val)
11g.118502744T>ACA382803231KMT2Ac.6951T>A (p.Asp2317Glu)
c.6942T>A (p.Asp2314Glu)
c.891T>A (p.Asp297Glu)
c.1149T>A (p.Asp383Glu)
c.6924T>A (p.Asp2308Glu)
c.6843T>A (p.Asp2281Glu)
n.6194T>A
c.6852T>A (p.Asp2284Glu)
c.6729T>A (p.Asp2243Glu)
n.979T>A
c.4335T>A (p.Asp1445Glu)
c.6948T>A (p.Asp2316Glu)
c.4758T>A (p.Asp1586Glu)
c.4434T>A (p.Asp1478Glu)
ClinVar dbSNP
11g.118502744T>CCA477359237KMT2Ac.6951T>C (p.Asp2317=)
c.6942T>C (p.Asp2314=)
c.891T>C (p.Asp297=)
c.1149T>C (p.Asp383=)
c.6924T>C (p.Asp2308=)
c.6843T>C (p.Asp2281=)
n.6194T>C
c.6852T>C (p.Asp2284=)
c.6729T>C (p.Asp2243=)
n.979T>C
c.4335T>C (p.Asp1445=)
c.6948T>C (p.Asp2316=)
c.4758T>C (p.Asp1586=)
c.4434T>C (p.Asp1478=)
11g.118502744T>GCA382803233KMT2Ac.6951T>G (p.Asp2317Glu)
c.6942T>G (p.Asp2314Glu)
c.891T>G (p.Asp297Glu)
c.1149T>G (p.Asp383Glu)
c.6924T>G (p.Asp2308Glu)
c.6843T>G (p.Asp2281Glu)
n.6194T>G
c.6852T>G (p.Asp2284Glu)
c.6729T>G (p.Asp2243Glu)
n.979T>G
c.4335T>G (p.Asp1445Glu)
c.6948T>G (p.Asp2316Glu)
c.4758T>G (p.Asp1586Glu)
c.4434T>G (p.Asp1478Glu)
11g.118502745G>ACA382803235KMT2Ac.6952G>A (p.Gly2318Arg)
c.6943G>A (p.Gly2315Arg)
c.892G>A (p.Gly298Arg)
c.1150G>A (p.Gly384Arg)
c.6925G>A (p.Gly2309Arg)
c.6844G>A (p.Gly2282Arg)
n.6195G>A
c.6853G>A (p.Gly2285Arg)
c.6730G>A (p.Gly2244Arg)
n.980G>A
c.4336G>A (p.Gly1446Arg)
c.6949G>A (p.Gly2317Arg)
c.4759G>A (p.Gly1587Arg)
c.4435G>A (p.Gly1479Arg)
11g.118502745G>CCA382803236KMT2Ac.6952G>C (p.Gly2318Arg)
c.6943G>C (p.Gly2315Arg)
c.892G>C (p.Gly298Arg)
c.1150G>C (p.Gly384Arg)
c.6925G>C (p.Gly2309Arg)
c.6844G>C (p.Gly2282Arg)
n.6195G>C
c.6853G>C (p.Gly2285Arg)
c.6730G>C (p.Gly2244Arg)
n.980G>C
c.4336G>C (p.Gly1446Arg)
c.6949G>C (p.Gly2317Arg)
c.4759G>C (p.Gly1587Arg)
c.4435G>C (p.Gly1479Arg)
11g.118502745G>TCA382803237KMT2Ac.6952G>T (p.Gly2318Ter)
c.6943G>T (p.Gly2315Ter)
c.892G>T (p.Gly298Ter)
c.1150G>T (p.Gly384Ter)
c.6925G>T (p.Gly2309Ter)
c.6844G>T (p.Gly2282Ter)
n.6195G>T
c.6853G>T (p.Gly2285Ter)
c.6730G>T (p.Gly2244Ter)
n.980G>T
c.4336G>T (p.Gly1446Ter)
c.6949G>T (p.Gly2317Ter)
c.4759G>T (p.Gly1587Ter)
c.4435G>T (p.Gly1479Ter)
11g.118502746G>ACA382803240KMT2Ac.6953G>A (p.Gly2318Glu)
c.6944G>A (p.Gly2315Glu)
c.893G>A (p.Gly298Glu)
c.1151G>A (p.Gly384Glu)
c.6926G>A (p.Gly2309Glu)
c.6845G>A (p.Gly2282Glu)
n.6196G>A
c.6854G>A (p.Gly2285Glu)
c.6731G>A (p.Gly2244Glu)
n.981G>A
c.4337G>A (p.Gly1446Glu)
c.6950G>A (p.Gly2317Glu)
c.4760G>A (p.Gly1587Glu)
c.4436G>A (p.Gly1479Glu)
11g.118502746G>CCA382803241KMT2Ac.6953G>C (p.Gly2318Ala)
c.6944G>C (p.Gly2315Ala)
c.893G>C (p.Gly298Ala)
c.1151G>C (p.Gly384Ala)
c.6926G>C (p.Gly2309Ala)
c.6845G>C (p.Gly2282Ala)
n.6196G>C
c.6854G>C (p.Gly2285Ala)
c.6731G>C (p.Gly2244Ala)
n.981G>C
c.4337G>C (p.Gly1446Ala)
c.6950G>C (p.Gly2317Ala)
c.4760G>C (p.Gly1587Ala)
c.4436G>C (p.Gly1479Ala)
11g.118502746G>TCA382803243KMT2Ac.6953G>T (p.Gly2318Val)
c.6944G>T (p.Gly2315Val)
c.893G>T (p.Gly298Val)
c.1151G>T (p.Gly384Val)
c.6926G>T (p.Gly2309Val)
c.6845G>T (p.Gly2282Val)
n.6196G>T
c.6854G>T (p.Gly2285Val)
c.6731G>T (p.Gly2244Val)
n.981G>T
c.4337G>T (p.Gly1446Val)
c.6950G>T (p.Gly2317Val)
c.4760G>T (p.Gly1587Val)
c.4436G>T (p.Gly1479Val)
11g.118502747A>CCA477359238KMT2Ac.6954A>C (p.Gly2318=)
c.6945A>C (p.Gly2315=)
c.894A>C (p.Gly298=)
c.1152A>C (p.Gly384=)
c.6927A>C (p.Gly2309=)
c.6846A>C (p.Gly2282=)
n.6197A>C
c.6855A>C (p.Gly2285=)
c.6732A>C (p.Gly2244=)
n.982A>C
c.4338A>C (p.Gly1446=)
c.6951A>C (p.Gly2317=)
c.4761A>C (p.Gly1587=)
c.4437A>C (p.Gly1479=)
11g.118502747A>GCA477359239KMT2Ac.6954A>G (p.Gly2318=)
c.6945A>G (p.Gly2315=)
c.894A>G (p.Gly298=)
c.1152A>G (p.Gly384=)
c.6927A>G (p.Gly2309=)
c.6846A>G (p.Gly2282=)
n.6197A>G
c.6855A>G (p.Gly2285=)
c.6732A>G (p.Gly2244=)
n.982A>G
c.4338A>G (p.Gly1446=)
c.6951A>G (p.Gly2317=)
c.4761A>G (p.Gly1587=)
c.4437A>G (p.Gly1479=)
11g.118502747A>TCA477359240KMT2Ac.6954A>T (p.Gly2318=)
c.6945A>T (p.Gly2315=)
c.894A>T (p.Gly298=)
c.1152A>T (p.Gly384=)
c.6927A>T (p.Gly2309=)
c.6846A>T (p.Gly2282=)
n.6197A>T
c.6855A>T (p.Gly2285=)
c.6732A>T (p.Gly2244=)
n.982A>T
c.4338A>T (p.Gly1446=)
c.6951A>T (p.Gly2317=)
c.4761A>T (p.Gly1587=)
c.4437A>T (p.Gly1479=)
11g.118502747_118502756delinsATCTTCATCTCA2003526736KMT2Ac.6954_6963delinsATCTTCATCT (p.Gly2318=)
c.6945_6954delinsATCTTCATCT (p.Gly2315=)
c.894_903delinsATCTTCATCT (p.Gly298=)
c.1152_1161delinsATCTTCATCT (p.Gly384=)
c.6927_6936delinsATCTTCATCT (p.Gly2309=)
c.6846_6855delinsATCTTCATCT (p.Gly2282=)
n.6197_6206delinsATCTTCATCT
c.6855_6864delinsATCTTCATCT (p.Gly2285=)
c.6732_6741delinsATCTTCATCT (p.Gly2244=)
n.982_991delinsATCTTCATCT
c.4338_4347delinsATCTTCATCT (p.Gly1446=)
c.6951_6960delinsATCTTCATCT (p.Gly2317=)
c.4761_4770delinsATCTTCATCT (p.Gly1587=)
c.4437_4446delinsATCTTCATCT (p.Gly1479=)
11g.118502748T>ACA382803248KMT2Ac.6955T>A (p.Ser2319Thr)
c.6946T>A (p.Ser2316Thr)
c.895T>A (p.Ser299Thr)
c.1153T>A (p.Ser385Thr)
c.6928T>A (p.Ser2310Thr)
c.6847T>A (p.Ser2283Thr)
n.6198T>A
c.6856T>A (p.Ser2286Thr)
c.6733T>A (p.Ser2245Thr)
n.983T>A
c.4339T>A (p.Ser1447Thr)
c.6952T>A (p.Ser2318Thr)
c.4762T>A (p.Ser1588Thr)
c.4438T>A (p.Ser1480Thr)
11g.118502748T>CCA382803247KMT2Ac.6955T>C (p.Ser2319Pro)
c.6946T>C (p.Ser2316Pro)
c.895T>C (p.Ser299Pro)
c.1153T>C (p.Ser385Pro)
c.6928T>C (p.Ser2310Pro)
c.6847T>C (p.Ser2283Pro)
n.6198T>C
c.6856T>C (p.Ser2286Pro)
c.6733T>C (p.Ser2245Pro)
n.983T>C
c.4339T>C (p.Ser1447Pro)
c.6952T>C (p.Ser2318Pro)
c.4762T>C (p.Ser1588Pro)
c.4438T>C (p.Ser1480Pro)
11g.118502748T>GCA382803245KMT2Ac.6955T>G (p.Ser2319Ala)
c.6946T>G (p.Ser2316Ala)
c.895T>G (p.Ser299Ala)
c.1153T>G (p.Ser385Ala)
c.6928T>G (p.Ser2310Ala)
c.6847T>G (p.Ser2283Ala)
n.6198T>G
c.6856T>G (p.Ser2286Ala)
c.6733T>G (p.Ser2245Ala)
n.983T>G
c.4339T>G (p.Ser1447Ala)
c.6952T>G (p.Ser2318Ala)
c.4762T>G (p.Ser1588Ala)
c.4438T>G (p.Ser1480Ala)
11g.118502750_118502758delCA2003526739KMT2Ac.6957_6965del (p.Ser2320_Ser2322del)
c.6948_6956del (p.Ser2317_Ser2319del)
c.897_905del (p.Ser300_Ser302del)
c.1155_1163del (p.Ser386_Ser388del)
c.6930_6938del (p.Ser2311_Ser2313del)
c.6849_6857del (p.Ser2284_Ser2286del)
n.6200_6208del
c.6858_6866del (p.Ser2287_Ser2289del)
c.6735_6743del (p.Ser2246_Ser2248del)
n.985_993del
c.4341_4349del (p.Ser1448_Ser1450del)
c.6954_6962del (p.Ser2319_Ser2321del)
c.4764_4772del (p.Ser1589_Ser1591del)
c.4440_4448del (p.Ser1481_Ser1483del)
dbSNP
11g.118502749C>ACA382803250KMT2Ac.6956C>A (p.Ser2319Tyr)
c.6947C>A (p.Ser2316Tyr)
c.896C>A (p.Ser299Tyr)
c.1154C>A (p.Ser385Tyr)
c.6929C>A (p.Ser2310Tyr)
c.6848C>A (p.Ser2283Tyr)
n.6199C>A
c.6857C>A (p.Ser2286Tyr)
c.6734C>A (p.Ser2245Tyr)
n.984C>A
c.4340C>A (p.Ser1447Tyr)
c.6953C>A (p.Ser2318Tyr)
c.4763C>A (p.Ser1588Tyr)
c.4439C>A (p.Ser1480Tyr)
dbSNP
11g.118502749C>GCA382803252KMT2Ac.6956C>G (p.Ser2319Cys)
c.6947C>G (p.Ser2316Cys)
c.896C>G (p.Ser299Cys)
c.1154C>G (p.Ser385Cys)
c.6929C>G (p.Ser2310Cys)
c.6848C>G (p.Ser2283Cys)
n.6199C>G
c.6857C>G (p.Ser2286Cys)
c.6734C>G (p.Ser2245Cys)
n.984C>G
c.4340C>G (p.Ser1447Cys)
c.6953C>G (p.Ser2318Cys)
c.4763C>G (p.Ser1588Cys)
c.4439C>G (p.Ser1480Cys)
11g.118502749C>TCA382803254KMT2Ac.6956C>T (p.Ser2319Phe)
c.6947C>T (p.Ser2316Phe)
c.896C>T (p.Ser299Phe)
c.1154C>T (p.Ser385Phe)
c.6929C>T (p.Ser2310Phe)
c.6848C>T (p.Ser2283Phe)
n.6199C>T
c.6857C>T (p.Ser2286Phe)
c.6734C>T (p.Ser2245Phe)
n.984C>T
c.4340C>T (p.Ser1447Phe)
c.6953C>T (p.Ser2318Phe)
c.4763C>T (p.Ser1588Phe)
c.4439C>T (p.Ser1480Phe)
11g.118502750T>ACA477359241KMT2Ac.6957T>A (p.Ser2319=)
c.6948T>A (p.Ser2316=)
c.897T>A (p.Ser299=)
c.1155T>A (p.Ser385=)
c.6930T>A (p.Ser2310=)
c.6849T>A (p.Ser2283=)
n.6200T>A
c.6858T>A (p.Ser2286=)
c.6735T>A (p.Ser2245=)
n.985T>A
c.4341T>A (p.Ser1447=)
c.6954T>A (p.Ser2318=)
c.4764T>A (p.Ser1588=)
c.4440T>A (p.Ser1480=)
11g.118502750T>CCA477359242KMT2Ac.6957T>C (p.Ser2319=)
c.6948T>C (p.Ser2316=)
c.897T>C (p.Ser299=)
c.1155T>C (p.Ser385=)
c.6930T>C (p.Ser2310=)
c.6849T>C (p.Ser2283=)
n.6200T>C
c.6858T>C (p.Ser2286=)
c.6735T>C (p.Ser2245=)
n.985T>C
c.4341T>C (p.Ser1447=)
c.6954T>C (p.Ser2318=)
c.4764T>C (p.Ser1588=)
c.4440T>C (p.Ser1480=)
11g.118502750T>GCA477359243KMT2Ac.6957T>G (p.Ser2319=)
c.6948T>G (p.Ser2316=)
c.897T>G (p.Ser299=)
c.1155T>G (p.Ser385=)
c.6930T>G (p.Ser2310=)
c.6849T>G (p.Ser2283=)
n.6200T>G
c.6858T>G (p.Ser2286=)
c.6735T>G (p.Ser2245=)
n.985T>G
c.4341T>G (p.Ser1447=)
c.6954T>G (p.Ser2318=)
c.4764T>G (p.Ser1588=)
c.4440T>G (p.Ser1480=)
11g.118502750_118502753delinsTTCACA2003526743KMT2Ac.6957_6960delinsTTCA (p.Ser2319=)
c.6948_6951delinsTTCA (p.Ser2316=)
c.897_900delinsTTCA (p.Ser299=)
c.1155_1158delinsTTCA (p.Ser385=)
c.6930_6933delinsTTCA (p.Ser2310=)
c.6849_6852delinsTTCA (p.Ser2283=)
n.6200_6203delinsTTCA
c.6858_6861delinsTTCA (p.Ser2286=)
c.6735_6738delinsTTCA (p.Ser2245=)
n.985_988delinsTTCA
c.4341_4344delinsTTCA (p.Ser1447=)
c.6954_6957delinsTTCA (p.Ser2318=)
c.4764_4767delinsTTCA (p.Ser1588=)
c.4440_4443delinsTTCA (p.Ser1480=)
11g.118502751T>ACA382803256KMT2Ac.6958T>A (p.Ser2320Thr)
c.6949T>A (p.Ser2317Thr)
c.898T>A (p.Ser300Thr)
c.1156T>A (p.Ser386Thr)
c.6931T>A (p.Ser2311Thr)
c.6850T>A (p.Ser2284Thr)
n.6201T>A
c.6859T>A (p.Ser2287Thr)
c.6736T>A (p.Ser2246Thr)
n.986T>A
c.4342T>A (p.Ser1448Thr)
c.6955T>A (p.Ser2319Thr)
c.4765T>A (p.Ser1589Thr)
c.4441T>A (p.Ser1481Thr)
11g.118502751T>CCA382803257KMT2Ac.6958T>C (p.Ser2320Pro)
c.6949T>C (p.Ser2317Pro)
c.898T>C (p.Ser300Pro)
c.1156T>C (p.Ser386Pro)
c.6931T>C (p.Ser2311Pro)
c.6850T>C (p.Ser2284Pro)
n.6201T>C
c.6859T>C (p.Ser2287Pro)
c.6736T>C (p.Ser2246Pro)
n.986T>C
c.4342T>C (p.Ser1448Pro)
c.6955T>C (p.Ser2319Pro)
c.4765T>C (p.Ser1589Pro)
c.4441T>C (p.Ser1481Pro)
11g.118502751T>GCA382803259KMT2Ac.6958T>G (p.Ser2320Ala)
c.6949T>G (p.Ser2317Ala)
c.898T>G (p.Ser300Ala)
c.1156T>G (p.Ser386Ala)
c.6931T>G (p.Ser2311Ala)
c.6850T>G (p.Ser2284Ala)
n.6201T>G
c.6859T>G (p.Ser2287Ala)
c.6736T>G (p.Ser2246Ala)
n.986T>G
c.4342T>G (p.Ser1448Ala)
c.6955T>G (p.Ser2319Ala)
c.4765T>G (p.Ser1589Ala)
c.4441T>G (p.Ser1481Ala)
11g.118502753_118502755delCA6304317KMT2Ac.6960_6962del (p.Ser2321del)
c.6951_6953del (p.Ser2318del)
c.900_902del (p.Ser301del)
c.1158_1160del (p.Ser387del)
c.6933_6935del (p.Ser2312del)
c.6852_6854del (p.Ser2285del)
n.6203_6205del
c.6861_6863del (p.Ser2288del)
c.6738_6740del (p.Ser2247del)
n.988_990del
c.4344_4346del (p.Ser1449del)
c.6957_6959del (p.Ser2320del)
c.4767_4769del (p.Ser1590del)
c.4443_4445del (p.Ser1482del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502752C>ACA382803261KMT2Ac.6959C>A (p.Ser2320Ter)
c.6950C>A (p.Ser2317Ter)
c.899C>A (p.Ser300Ter)
c.1157C>A (p.Ser386Ter)
c.6932C>A (p.Ser2311Ter)
c.6851C>A (p.Ser2284Ter)
n.6202C>A
c.6860C>A (p.Ser2287Ter)
c.6737C>A (p.Ser2246Ter)
n.987C>A
c.4343C>A (p.Ser1448Ter)
c.6956C>A (p.Ser2319Ter)
c.4766C>A (p.Ser1589Ter)
c.4442C>A (p.Ser1481Ter)
11g.118502752C>GCA382803263KMT2Ac.6959C>G (p.Ser2320Ter)
c.6950C>G (p.Ser2317Ter)
c.899C>G (p.Ser300Ter)
c.1157C>G (p.Ser386Ter)
c.6932C>G (p.Ser2311Ter)
c.6851C>G (p.Ser2284Ter)
n.6202C>G
c.6860C>G (p.Ser2287Ter)
c.6737C>G (p.Ser2246Ter)
n.987C>G
c.4343C>G (p.Ser1448Ter)
c.6956C>G (p.Ser2319Ter)
c.4766C>G (p.Ser1589Ter)
c.4442C>G (p.Ser1481Ter)
ClinVar
11g.118502752C>TCA382803265KMT2Ac.6959C>T (p.Ser2320Leu)
c.6950C>T (p.Ser2317Leu)
c.899C>T (p.Ser300Leu)
c.1157C>T (p.Ser386Leu)
c.6932C>T (p.Ser2311Leu)
c.6851C>T (p.Ser2284Leu)
n.6202C>T
c.6860C>T (p.Ser2287Leu)
c.6737C>T (p.Ser2246Leu)
n.987C>T
c.4343C>T (p.Ser1448Leu)
c.6956C>T (p.Ser2319Leu)
c.4766C>T (p.Ser1589Leu)
c.4442C>T (p.Ser1481Leu)
dbSNP
11g.118502753A=CA2003526748KMT2Ac.6960A= (p.Ser2320=)
c.6951A= (p.Ser2317=)
c.900A= (p.Ser300=)
c.1158A= (p.Ser386=)
c.6933A= (p.Ser2311=)
c.6852A= (p.Ser2284=)
n.6203A=
c.6861A= (p.Ser2287=)
c.6738A= (p.Ser2246=)
n.988A=
c.4344A= (p.Ser1448=)
c.6957A= (p.Ser2319=)
c.4767A= (p.Ser1589=)
c.4443A= (p.Ser1481=)
11g.118502753A>CCA477359245KMT2Ac.6960A>C (p.Ser2320=)
c.6951A>C (p.Ser2317=)
c.900A>C (p.Ser300=)
c.1158A>C (p.Ser386=)
c.6933A>C (p.Ser2311=)
c.6852A>C (p.Ser2284=)
n.6203A>C
c.6861A>C (p.Ser2287=)
c.6738A>C (p.Ser2246=)
n.988A>C
c.4344A>C (p.Ser1448=)
c.6957A>C (p.Ser2319=)
c.4767A>C (p.Ser1589=)
c.4443A>C (p.Ser1481=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.118502753A>GCA477359246KMT2Ac.6960A>G (p.Ser2320=)
c.6951A>G (p.Ser2317=)
c.900A>G (p.Ser300=)
c.1158A>G (p.Ser386=)
c.6933A>G (p.Ser2311=)
c.6852A>G (p.Ser2284=)
n.6203A>G
c.6861A>G (p.Ser2287=)
c.6738A>G (p.Ser2246=)
n.988A>G
c.4344A>G (p.Ser1448=)
c.6957A>G (p.Ser2319=)
c.4767A>G (p.Ser1589=)
c.4443A>G (p.Ser1481=)
11g.118502753A>TCA477359247KMT2Ac.6960A>T (p.Ser2320=)
c.6951A>T (p.Ser2317=)
c.900A>T (p.Ser300=)
c.1158A>T (p.Ser386=)
c.6933A>T (p.Ser2311=)
c.6852A>T (p.Ser2284=)
n.6203A>T
c.6861A>T (p.Ser2287=)
c.6738A>T (p.Ser2246=)
n.988A>T
c.4344A>T (p.Ser1448=)
c.6957A>T (p.Ser2319=)
c.4767A>T (p.Ser1589=)
c.4443A>T (p.Ser1481=)
11g.118502754T>ACA382803267KMT2Ac.6961T>A (p.Ser2321Thr)
c.6952T>A (p.Ser2318Thr)
c.901T>A (p.Ser301Thr)
c.1159T>A (p.Ser387Thr)
c.6934T>A (p.Ser2312Thr)
c.6853T>A (p.Ser2285Thr)
n.6204T>A
c.6862T>A (p.Ser2288Thr)
c.6739T>A (p.Ser2247Thr)
n.989T>A
c.4345T>A (p.Ser1449Thr)
c.6958T>A (p.Ser2320Thr)
c.4768T>A (p.Ser1590Thr)
c.4444T>A (p.Ser1482Thr)
11g.118502754T>CCA382803268KMT2Ac.6961T>C (p.Ser2321Pro)
c.6952T>C (p.Ser2318Pro)
c.901T>C (p.Ser301Pro)
c.1159T>C (p.Ser387Pro)
c.6934T>C (p.Ser2312Pro)
c.6853T>C (p.Ser2285Pro)
n.6204T>C
c.6862T>C (p.Ser2288Pro)
c.6739T>C (p.Ser2247Pro)
n.989T>C
c.4345T>C (p.Ser1449Pro)
c.6958T>C (p.Ser2320Pro)
c.4768T>C (p.Ser1590Pro)
c.4444T>C (p.Ser1482Pro)
11g.118502754T>GCA382803270KMT2Ac.6961T>G (p.Ser2321Ala)
c.6952T>G (p.Ser2318Ala)
c.901T>G (p.Ser301Ala)
c.1159T>G (p.Ser387Ala)
c.6934T>G (p.Ser2312Ala)
c.6853T>G (p.Ser2285Ala)
n.6204T>G
c.6862T>G (p.Ser2288Ala)
c.6739T>G (p.Ser2247Ala)
n.989T>G
c.4345T>G (p.Ser1449Ala)
c.6958T>G (p.Ser2320Ala)
c.4768T>G (p.Ser1590Ala)
c.4444T>G (p.Ser1482Ala)
gnomAD v4
11g.118502755C>ACA382803275KMT2Ac.6962C>A (p.Ser2321Tyr)
c.6953C>A (p.Ser2318Tyr)
c.902C>A (p.Ser301Tyr)
c.1160C>A (p.Ser387Tyr)
c.6935C>A (p.Ser2312Tyr)
c.6854C>A (p.Ser2285Tyr)
n.6205C>A
c.6863C>A (p.Ser2288Tyr)
c.6740C>A (p.Ser2247Tyr)
n.990C>A
c.4346C>A (p.Ser1449Tyr)
c.6959C>A (p.Ser2320Tyr)
c.4769C>A (p.Ser1590Tyr)
c.4445C>A (p.Ser1482Tyr)
gnomAD v4
11g.118502755C>GCA382803274KMT2Ac.6962C>G (p.Ser2321Cys)
c.6953C>G (p.Ser2318Cys)
c.902C>G (p.Ser301Cys)
c.1160C>G (p.Ser387Cys)
c.6935C>G (p.Ser2312Cys)
c.6854C>G (p.Ser2285Cys)
n.6205C>G
c.6863C>G (p.Ser2288Cys)
c.6740C>G (p.Ser2247Cys)
n.990C>G
c.4346C>G (p.Ser1449Cys)
c.6959C>G (p.Ser2320Cys)
c.4769C>G (p.Ser1590Cys)
c.4445C>G (p.Ser1482Cys)
11g.118502755C>TCA382803273KMT2Ac.6962C>T (p.Ser2321Phe)
c.6953C>T (p.Ser2318Phe)
c.902C>T (p.Ser301Phe)
c.1160C>T (p.Ser387Phe)
c.6935C>T (p.Ser2312Phe)
c.6854C>T (p.Ser2285Phe)
n.6205C>T
c.6863C>T (p.Ser2288Phe)
c.6740C>T (p.Ser2247Phe)
n.990C>T
c.4346C>T (p.Ser1449Phe)
c.6959C>T (p.Ser2320Phe)
c.4769C>T (p.Ser1590Phe)
c.4445C>T (p.Ser1482Phe)
ClinVar COSMIC COSMIC
11g.118502756T>ACA477359251KMT2Ac.6963T>A (p.Ser2321=)
c.6954T>A (p.Ser2318=)
c.903T>A (p.Ser301=)
c.1161T>A (p.Ser387=)
c.6936T>A (p.Ser2312=)
c.6855T>A (p.Ser2285=)
n.6206T>A
c.6864T>A (p.Ser2288=)
c.6741T>A (p.Ser2247=)
n.991T>A
c.4347T>A (p.Ser1449=)
c.6960T>A (p.Ser2320=)
c.4770T>A (p.Ser1590=)
c.4446T>A (p.Ser1482=)
11g.118502756T>CCA477359250KMT2Ac.6963T>C (p.Ser2321=)
c.6954T>C (p.Ser2318=)
c.903T>C (p.Ser301=)
c.1161T>C (p.Ser387=)
c.6936T>C (p.Ser2312=)
c.6855T>C (p.Ser2285=)
n.6206T>C
c.6864T>C (p.Ser2288=)
c.6741T>C (p.Ser2247=)
n.991T>C
c.4347T>C (p.Ser1449=)
c.6960T>C (p.Ser2320=)
c.4770T>C (p.Ser1590=)
c.4446T>C (p.Ser1482=)
11g.118502756T>GCA477359249KMT2Ac.6963T>G (p.Ser2321=)
c.6954T>G (p.Ser2318=)
c.903T>G (p.Ser301=)
c.1161T>G (p.Ser387=)
c.6936T>G (p.Ser2312=)
c.6855T>G (p.Ser2285=)
n.6206T>G
c.6864T>G (p.Ser2288=)
c.6741T>G (p.Ser2247=)
n.991T>G
c.4347T>G (p.Ser1449=)
c.6960T>G (p.Ser2320=)
c.4770T>G (p.Ser1590=)
c.4446T>G (p.Ser1482=)
11g.118502757T>ACA382803277KMT2Ac.6964T>A (p.Ser2322Thr)
c.6955T>A (p.Ser2319Thr)
c.904T>A (p.Ser302Thr)
c.1162T>A (p.Ser388Thr)
c.6937T>A (p.Ser2313Thr)
c.6856T>A (p.Ser2286Thr)
n.6207T>A
c.6865T>A (p.Ser2289Thr)
c.6742T>A (p.Ser2248Thr)
n.992T>A
c.4348T>A (p.Ser1450Thr)
c.6961T>A (p.Ser2321Thr)
c.4771T>A (p.Ser1591Thr)
c.4447T>A (p.Ser1483Thr)
11g.118502757T>CCA382803279KMT2Ac.6964T>C (p.Ser2322Pro)
c.6955T>C (p.Ser2319Pro)
c.904T>C (p.Ser302Pro)
c.1162T>C (p.Ser388Pro)
c.6937T>C (p.Ser2313Pro)
c.6856T>C (p.Ser2286Pro)
n.6207T>C
c.6865T>C (p.Ser2289Pro)
c.6742T>C (p.Ser2248Pro)
n.992T>C
c.4348T>C (p.Ser1450Pro)
c.6961T>C (p.Ser2321Pro)
c.4771T>C (p.Ser1591Pro)
c.4447T>C (p.Ser1483Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.118502757T>GCA382803281KMT2Ac.6964T>G (p.Ser2322Ala)
c.6955T>G (p.Ser2319Ala)
c.904T>G (p.Ser302Ala)
c.1162T>G (p.Ser388Ala)
c.6937T>G (p.Ser2313Ala)
c.6856T>G (p.Ser2286Ala)
n.6207T>G
c.6865T>G (p.Ser2289Ala)
c.6742T>G (p.Ser2248Ala)
n.992T>G
c.4348T>G (p.Ser1450Ala)
c.6961T>G (p.Ser2321Ala)
c.4771T>G (p.Ser1591Ala)
c.4447T>G (p.Ser1483Ala)
11g.118502757T=CA2003526752KMT2Ac.6964T= (p.Ser2322=)
c.6955T= (p.Ser2319=)
c.904T= (p.Ser302=)
c.1162T= (p.Ser388=)
c.6937T= (p.Ser2313=)
c.6856T= (p.Ser2286=)
n.6207T=
c.6865T= (p.Ser2289=)
c.6742T= (p.Ser2248=)
n.992T=
c.4348T= (p.Ser1450=)
c.6961T= (p.Ser2321=)
c.4771T= (p.Ser1591=)
c.4447T= (p.Ser1483=)
11g.118502758C>ACA382803284KMT2Ac.6965C>A (p.Ser2322Ter)
c.6956C>A (p.Ser2319Ter)
c.905C>A (p.Ser302Ter)
c.1163C>A (p.Ser388Ter)
c.6938C>A (p.Ser2313Ter)
c.6857C>A (p.Ser2286Ter)
n.6208C>A
c.6866C>A (p.Ser2289Ter)
c.6743C>A (p.Ser2248Ter)
n.993C>A
c.4349C>A (p.Ser1450Ter)
c.6962C>A (p.Ser2321Ter)
c.4772C>A (p.Ser1591Ter)
c.4448C>A (p.Ser1483Ter)
dbSNP
11g.118502758C>GCA382803286KMT2Ac.6965C>G (p.Ser2322Ter)
c.6956C>G (p.Ser2319Ter)
c.905C>G (p.Ser302Ter)
c.1163C>G (p.Ser388Ter)
c.6938C>G (p.Ser2313Ter)
c.6857C>G (p.Ser2286Ter)
n.6208C>G
c.6866C>G (p.Ser2289Ter)
c.6743C>G (p.Ser2248Ter)
n.993C>G
c.4349C>G (p.Ser1450Ter)
c.6962C>G (p.Ser2321Ter)
c.4772C>G (p.Ser1591Ter)
c.4448C>G (p.Ser1483Ter)
11g.118502758C>TCA382803287KMT2Ac.6965C>T (p.Ser2322Leu)
c.6956C>T (p.Ser2319Leu)
c.905C>T (p.Ser302Leu)
c.1163C>T (p.Ser388Leu)
c.6938C>T (p.Ser2313Leu)
c.6857C>T (p.Ser2286Leu)
n.6208C>T
c.6866C>T (p.Ser2289Leu)
c.6743C>T (p.Ser2248Leu)
n.993C>T
c.4349C>T (p.Ser1450Leu)
c.6962C>T (p.Ser2321Leu)
c.4772C>T (p.Ser1591Leu)
c.4448C>T (p.Ser1483Leu)
11g.118502759A=CA2003526755KMT2Ac.6966A= (p.Ser2322=)
c.6957A= (p.Ser2319=)
c.906A= (p.Ser302=)
c.1164A= (p.Ser388=)
c.6939A= (p.Ser2313=)
c.6858A= (p.Ser2286=)
n.6209A=
c.6867A= (p.Ser2289=)
c.6744A= (p.Ser2248=)
n.994A=
c.4350A= (p.Ser1450=)
c.6963A= (p.Ser2321=)
c.4773A= (p.Ser1591=)
c.4449A= (p.Ser1483=)
11g.118502759A>CCA477359252KMT2Ac.6966A>C (p.Ser2322=)
c.6957A>C (p.Ser2319=)
c.906A>C (p.Ser302=)
c.1164A>C (p.Ser388=)
c.6939A>C (p.Ser2313=)
c.6858A>C (p.Ser2286=)
n.6209A>C
c.6867A>C (p.Ser2289=)
c.6744A>C (p.Ser2248=)
n.994A>C
c.4350A>C (p.Ser1450=)
c.6963A>C (p.Ser2321=)
c.4773A>C (p.Ser1591=)
c.4449A>C (p.Ser1483=)
11g.118502759A>GCA477359253KMT2Ac.6966A>G (p.Ser2322=)
c.6957A>G (p.Ser2319=)
c.906A>G (p.Ser302=)
c.1164A>G (p.Ser388=)
c.6939A>G (p.Ser2313=)
c.6858A>G (p.Ser2286=)
n.6209A>G
c.6867A>G (p.Ser2289=)
c.6744A>G (p.Ser2248=)
n.994A>G
c.4350A>G (p.Ser1450=)
c.6963A>G (p.Ser2321=)
c.4773A>G (p.Ser1591=)
c.4449A>G (p.Ser1483=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118502759A>TCA477359254KMT2Ac.6966A>T (p.Ser2322=)
c.6957A>T (p.Ser2319=)
c.906A>T (p.Ser302=)
c.1164A>T (p.Ser388=)
c.6939A>T (p.Ser2313=)
c.6858A>T (p.Ser2286=)
n.6209A>T
c.6867A>T (p.Ser2289=)
c.6744A>T (p.Ser2248=)
n.994A>T
c.4350A>T (p.Ser1450=)
c.6963A>T (p.Ser2321=)
c.4773A>T (p.Ser1591=)
c.4449A>T (p.Ser1483=)
11g.118502760G>ACA382803292KMT2Ac.6967G>A (p.Glu2323Lys)
c.6958G>A (p.Glu2320Lys)
c.907G>A (p.Glu303Lys)
c.1165G>A (p.Glu389Lys)
c.6940G>A (p.Glu2314Lys)
c.6859G>A (p.Glu2287Lys)
n.6210G>A
c.6868G>A (p.Glu2290Lys)
c.6745G>A (p.Glu2249Lys)
n.995G>A
c.4351G>A (p.Glu1451Lys)
c.6964G>A (p.Glu2322Lys)
c.4774G>A (p.Glu1592Lys)
c.4450G>A (p.Glu1484Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118502760G>CCA382803289KMT2Ac.6967G>C (p.Glu2323Gln)
c.6958G>C (p.Glu2320Gln)
c.907G>C (p.Glu303Gln)
c.1165G>C (p.Glu389Gln)
c.6940G>C (p.Glu2314Gln)
c.6859G>C (p.Glu2287Gln)
n.6210G>C
c.6868G>C (p.Glu2290Gln)
c.6745G>C (p.Glu2249Gln)
n.995G>C
c.4351G>C (p.Glu1451Gln)
c.6964G>C (p.Glu2322Gln)
c.4774G>C (p.Glu1592Gln)
c.4450G>C (p.Glu1484Gln)
dbSNP
11g.118502760G=CA2003526763KMT2Ac.6967G= (p.Glu2323=)
c.6958G= (p.Glu2320=)
c.907G= (p.Glu303=)
c.1165G= (p.Glu389=)
c.6940G= (p.Glu2314=)
c.6859G= (p.Glu2287=)
n.6210G=
c.6868G= (p.Glu2290=)
c.6745G= (p.Glu2249=)
n.995G=
c.4351G= (p.Glu1451=)
c.6964G= (p.Glu2322=)
c.4774G= (p.Glu1592=)
c.4450G= (p.Glu1484=)
11g.118502760G>TCA382803290KMT2Ac.6967G>T (p.Glu2323Ter)
c.6958G>T (p.Glu2320Ter)
c.907G>T (p.Glu303Ter)
c.1165G>T (p.Glu389Ter)
c.6940G>T (p.Glu2314Ter)
c.6859G>T (p.Glu2287Ter)
n.6210G>T
c.6868G>T (p.Glu2290Ter)
c.6745G>T (p.Glu2249Ter)
n.995G>T
c.4351G>T (p.Glu1451Ter)
c.6964G>T (p.Glu2322Ter)
c.4774G>T (p.Glu1592Ter)
c.4450G>T (p.Glu1484Ter)
11g.118502761A>CCA382803295KMT2Ac.6968A>C (p.Glu2323Ala)
c.6959A>C (p.Glu2320Ala)
c.908A>C (p.Glu303Ala)
c.1166A>C (p.Glu389Ala)
c.6941A>C (p.Glu2314Ala)
c.6860A>C (p.Glu2287Ala)
n.6211A>C
c.6869A>C (p.Glu2290Ala)
c.6746A>C (p.Glu2249Ala)
n.996A>C
c.4352A>C (p.Glu1451Ala)
c.6965A>C (p.Glu2322Ala)
c.4775A>C (p.Glu1592Ala)
c.4451A>C (p.Glu1484Ala)
11g.118502761A>GCA382803296KMT2Ac.6968A>G (p.Glu2323Gly)
c.6959A>G (p.Glu2320Gly)
c.908A>G (p.Glu303Gly)
c.1166A>G (p.Glu389Gly)
c.6941A>G (p.Glu2314Gly)
c.6860A>G (p.Glu2287Gly)
n.6211A>G
c.6869A>G (p.Glu2290Gly)
c.6746A>G (p.Glu2249Gly)
n.996A>G
c.4352A>G (p.Glu1451Gly)
c.6965A>G (p.Glu2322Gly)
c.4775A>G (p.Glu1592Gly)
c.4451A>G (p.Glu1484Gly)
11g.118502761A>TCA382803298KMT2Ac.6968A>T (p.Glu2323Val)
c.6959A>T (p.Glu2320Val)
c.908A>T (p.Glu303Val)
c.1166A>T (p.Glu389Val)
c.6941A>T (p.Glu2314Val)
c.6860A>T (p.Glu2287Val)
n.6211A>T
c.6869A>T (p.Glu2290Val)
c.6746A>T (p.Glu2249Val)
n.996A>T
c.4352A>T (p.Glu1451Val)
c.6965A>T (p.Glu2322Val)
c.4775A>T (p.Glu1592Val)
c.4451A>T (p.Glu1484Val)
11g.118502762A=CA2003526767KMT2Ac.6969A= (p.Glu2323=)
c.6960A= (p.Glu2320=)
c.909A= (p.Glu303=)
c.1167A= (p.Glu389=)
c.6942A= (p.Glu2314=)
c.6861A= (p.Glu2287=)
n.6212A=
c.6870A= (p.Glu2290=)
c.6747A= (p.Glu2249=)
n.997A=
c.4353A= (p.Glu1451=)
c.6966A= (p.Glu2322=)
c.4776A= (p.Glu1592=)
c.4452A= (p.Glu1484=)
11g.118502762A>CCA382803300KMT2Ac.6969A>C (p.Glu2323Asp)
c.6960A>C (p.Glu2320Asp)
c.909A>C (p.Glu303Asp)
c.1167A>C (p.Glu389Asp)
c.6942A>C (p.Glu2314Asp)
c.6861A>C (p.Glu2287Asp)
n.6212A>C
c.6870A>C (p.Glu2290Asp)
c.6747A>C (p.Glu2249Asp)
n.997A>C
c.4353A>C (p.Glu1451Asp)
c.6966A>C (p.Glu2322Asp)
c.4776A>C (p.Glu1592Asp)
c.4452A>C (p.Glu1484Asp)
11g.118502762A>GCA477359258KMT2Ac.6969A>G (p.Glu2323=)
c.6960A>G (p.Glu2320=)
c.909A>G (p.Glu303=)
c.1167A>G (p.Glu389=)
c.6942A>G (p.Glu2314=)
c.6861A>G (p.Glu2287=)
n.6212A>G
c.6870A>G (p.Glu2290=)
c.6747A>G (p.Glu2249=)
n.997A>G
c.4353A>G (p.Glu1451=)
c.6966A>G (p.Glu2322=)
c.4776A>G (p.Glu1592=)
c.4452A>G (p.Glu1484=)
dbSNP gnomAD v4
11g.118502762A>TCA382803302KMT2Ac.6969A>T (p.Glu2323Asp)
c.6960A>T (p.Glu2320Asp)
c.909A>T (p.Glu303Asp)
c.1167A>T (p.Glu389Asp)
c.6942A>T (p.Glu2314Asp)
c.6861A>T (p.Glu2287Asp)
n.6212A>T
c.6870A>T (p.Glu2290Asp)
c.6747A>T (p.Glu2249Asp)
n.997A>T
c.4353A>T (p.Glu1451Asp)
c.6966A>T (p.Glu2322Asp)
c.4776A>T (p.Glu1592Asp)
c.4452A>T (p.Glu1484Asp)
11g.118502763A>CCA382803305KMT2Ac.6970A>C (p.Met2324Leu)
c.6961A>C (p.Met2321Leu)
c.910A>C (p.Met304Leu)
c.1168A>C (p.Met390Leu)
c.6943A>C (p.Met2315Leu)
c.6862A>C (p.Met2288Leu)
n.6213A>C
c.6871A>C (p.Met2291Leu)
c.6748A>C (p.Met2250Leu)
n.998A>C
c.4354A>C (p.Met1452Leu)
c.6967A>C (p.Met2323Leu)
c.4777A>C (p.Met1593Leu)
c.4453A>C (p.Met1485Leu)
11g.118502763A>GCA382803309KMT2Ac.6970A>G (p.Met2324Val)
c.6961A>G (p.Met2321Val)
c.910A>G (p.Met304Val)
c.1168A>G (p.Met390Val)
c.6943A>G (p.Met2315Val)
c.6862A>G (p.Met2288Val)
n.6213A>G
c.6871A>G (p.Met2291Val)
c.6748A>G (p.Met2250Val)
n.998A>G
c.4354A>G (p.Met1452Val)
c.6967A>G (p.Met2323Val)
c.4777A>G (p.Met1593Val)
c.4453A>G (p.Met1485Val)
gnomAD v4
11g.118502763A>TCA382803306KMT2Ac.6970A>T (p.Met2324Leu)
c.6961A>T (p.Met2321Leu)
c.910A>T (p.Met304Leu)
c.1168A>T (p.Met390Leu)
c.6943A>T (p.Met2315Leu)
c.6862A>T (p.Met2288Leu)
n.6213A>T
c.6871A>T (p.Met2291Leu)
c.6748A>T (p.Met2250Leu)
n.998A>T
c.4354A>T (p.Met1452Leu)
c.6967A>T (p.Met2323Leu)
c.4777A>T (p.Met1593Leu)
c.4453A>T (p.Met1485Leu)
11g.118502764T>ACA6304318KMT2Ac.6971T>A (p.Met2324Lys)
c.6962T>A (p.Met2321Lys)
c.911T>A (p.Met304Lys)
c.1169T>A (p.Met390Lys)
c.6944T>A (p.Met2315Lys)
c.6863T>A (p.Met2288Lys)
n.6214T>A
c.6872T>A (p.Met2291Lys)
c.6749T>A (p.Met2250Lys)
n.999T>A
c.4355T>A (p.Met1452Lys)
c.6968T>A (p.Met2323Lys)
c.4778T>A (p.Met1593Lys)
c.4454T>A (p.Met1485Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502764T>CCA382803312KMT2Ac.6971T>C (p.Met2324Thr)
c.6962T>C (p.Met2321Thr)
c.911T>C (p.Met304Thr)
c.1169T>C (p.Met390Thr)
c.6944T>C (p.Met2315Thr)
c.6863T>C (p.Met2288Thr)
n.6214T>C
c.6872T>C (p.Met2291Thr)
c.6749T>C (p.Met2250Thr)
n.999T>C
c.4355T>C (p.Met1452Thr)
c.6968T>C (p.Met2323Thr)
c.4778T>C (p.Met1593Thr)
c.4454T>C (p.Met1485Thr)
ClinVar dbSNP gnomAD v4
11g.118502764T>GCA382803314KMT2Ac.6971T>G (p.Met2324Arg)
c.6962T>G (p.Met2321Arg)
c.911T>G (p.Met304Arg)
c.1169T>G (p.Met390Arg)
c.6944T>G (p.Met2315Arg)
c.6863T>G (p.Met2288Arg)
n.6214T>G
c.6872T>G (p.Met2291Arg)
c.6749T>G (p.Met2250Arg)
n.999T>G
c.4355T>G (p.Met1452Arg)
c.6968T>G (p.Met2323Arg)
c.4778T>G (p.Met1593Arg)
c.4454T>G (p.Met1485Arg)
11g.118502764T=CA2003526772KMT2Ac.6971T= (p.Met2324=)
c.6962T= (p.Met2321=)
c.911T= (p.Met304=)
c.1169T= (p.Met390=)
c.6944T= (p.Met2315=)
c.6863T= (p.Met2288=)
n.6214T=
c.6872T= (p.Met2291=)
c.6749T= (p.Met2250=)
n.999T=
c.4355T= (p.Met1452=)
c.6968T= (p.Met2323=)
c.4778T= (p.Met1593=)
c.4454T= (p.Met1485=)
11g.118502765G>ACA382803316KMT2Ac.6972G>A (p.Met2324Ile)
c.6963G>A (p.Met2321Ile)
c.912G>A (p.Met304Ile)
c.1170G>A (p.Met390Ile)
c.6945G>A (p.Met2315Ile)
c.6864G>A (p.Met2288Ile)
n.6215G>A
c.6873G>A (p.Met2291Ile)
c.6750G>A (p.Met2250Ile)
n.1000G>A
c.4356G>A (p.Met1452Ile)
c.6969G>A (p.Met2323Ile)
c.4779G>A (p.Met1593Ile)
c.4455G>A (p.Met1485Ile)
gnomAD v4
11g.118502765G>CCA382803318KMT2Ac.6972G>C (p.Met2324Ile)
c.6963G>C (p.Met2321Ile)
c.912G>C (p.Met304Ile)
c.1170G>C (p.Met390Ile)
c.6945G>C (p.Met2315Ile)
c.6864G>C (p.Met2288Ile)
n.6215G>C
c.6873G>C (p.Met2291Ile)
c.6750G>C (p.Met2250Ile)
n.1000G>C
c.4356G>C (p.Met1452Ile)
c.6969G>C (p.Met2323Ile)
c.4779G>C (p.Met1593Ile)
c.4455G>C (p.Met1485Ile)
11g.118502765G>TCA382803320KMT2Ac.6972G>T (p.Met2324Ile)
c.6963G>T (p.Met2321Ile)
c.912G>T (p.Met304Ile)
c.1170G>T (p.Met390Ile)
c.6945G>T (p.Met2315Ile)
c.6864G>T (p.Met2288Ile)
n.6215G>T
c.6873G>T (p.Met2291Ile)
c.6750G>T (p.Met2250Ile)
n.1000G>T
c.4356G>T (p.Met1452Ile)
c.6969G>T (p.Met2323Ile)
c.4779G>T (p.Met1593Ile)
c.4455G>T (p.Met1485Ile)
gnomAD v4
11g.118502766A>CCA382803322KMT2Ac.6973A>C (p.Lys2325Gln)
c.6964A>C (p.Lys2322Gln)
c.913A>C (p.Lys305Gln)
c.1171A>C (p.Lys391Gln)
c.6946A>C (p.Lys2316Gln)
c.6865A>C (p.Lys2289Gln)
n.6216A>C
c.6874A>C (p.Lys2292Gln)
c.6751A>C (p.Lys2251Gln)
n.1001A>C
c.4357A>C (p.Lys1453Gln)
c.6970A>C (p.Lys2324Gln)
c.4780A>C (p.Lys1594Gln)
c.4456A>C (p.Lys1486Gln)
11g.118502766A>GCA382803323KMT2Ac.6973A>G (p.Lys2325Glu)
c.6964A>G (p.Lys2322Glu)
c.913A>G (p.Lys305Glu)
c.1171A>G (p.Lys391Glu)
c.6946A>G (p.Lys2316Glu)
c.6865A>G (p.Lys2289Glu)
n.6216A>G
c.6874A>G (p.Lys2292Glu)
c.6751A>G (p.Lys2251Glu)
n.1001A>G
c.4357A>G (p.Lys1453Glu)
c.6970A>G (p.Lys2324Glu)
c.4780A>G (p.Lys1594Glu)
c.4456A>G (p.Lys1486Glu)
11g.118502766A>TCA382803325KMT2Ac.6973A>T (p.Lys2325Ter)
c.6964A>T (p.Lys2322Ter)
c.913A>T (p.Lys305Ter)
c.1171A>T (p.Lys391Ter)
c.6946A>T (p.Lys2316Ter)
c.6865A>T (p.Lys2289Ter)
n.6216A>T
c.6874A>T (p.Lys2292Ter)
c.6751A>T (p.Lys2251Ter)
n.1001A>T
c.4357A>T (p.Lys1453Ter)
c.6970A>T (p.Lys2324Ter)
c.4780A>T (p.Lys1594Ter)
c.4456A>T (p.Lys1486Ter)
11g.118502767A>CCA382803327KMT2Ac.6974A>C (p.Lys2325Thr)
c.6965A>C (p.Lys2322Thr)
c.914A>C (p.Lys305Thr)
c.1172A>C (p.Lys391Thr)
c.6947A>C (p.Lys2316Thr)
c.6866A>C (p.Lys2289Thr)
n.6217A>C
c.6875A>C (p.Lys2292Thr)
c.6752A>C (p.Lys2251Thr)
n.1002A>C
c.4358A>C (p.Lys1453Thr)
c.6971A>C (p.Lys2324Thr)
c.4781A>C (p.Lys1594Thr)
c.4457A>C (p.Lys1486Thr)
11g.118502767A>GCA382803328KMT2Ac.6974A>G (p.Lys2325Arg)
c.6965A>G (p.Lys2322Arg)
c.914A>G (p.Lys305Arg)
c.1172A>G (p.Lys391Arg)
c.6947A>G (p.Lys2316Arg)
c.6866A>G (p.Lys2289Arg)
n.6217A>G
c.6875A>G (p.Lys2292Arg)
c.6752A>G (p.Lys2251Arg)
n.1002A>G
c.4358A>G (p.Lys1453Arg)
c.6971A>G (p.Lys2324Arg)
c.4781A>G (p.Lys1594Arg)
c.4457A>G (p.Lys1486Arg)
11g.118502767A>TCA382803329KMT2Ac.6974A>T (p.Lys2325Met)
c.6965A>T (p.Lys2322Met)
c.914A>T (p.Lys305Met)
c.1172A>T (p.Lys391Met)
c.6947A>T (p.Lys2316Met)
c.6866A>T (p.Lys2289Met)
n.6217A>T
c.6875A>T (p.Lys2292Met)
c.6752A>T (p.Lys2251Met)
n.1002A>T
c.4358A>T (p.Lys1453Met)
c.6971A>T (p.Lys2324Met)
c.4781A>T (p.Lys1594Met)
c.4457A>T (p.Lys1486Met)
11g.118502768G>ACA477359263KMT2Ac.6975G>A (p.Lys2325=)
c.6966G>A (p.Lys2322=)
c.915G>A (p.Lys305=)
c.1173G>A (p.Lys391=)
c.6948G>A (p.Lys2316=)
c.6867G>A (p.Lys2289=)
n.6218G>A
c.6876G>A (p.Lys2292=)
c.6753G>A (p.Lys2251=)
n.1003G>A
c.4359G>A (p.Lys1453=)
c.6972G>A (p.Lys2324=)
c.4782G>A (p.Lys1594=)
c.4458G>A (p.Lys1486=)
ClinVar
11g.118502768G>CCA382803330KMT2Ac.6975G>C (p.Lys2325Asn)
c.6966G>C (p.Lys2322Asn)
c.915G>C (p.Lys305Asn)
c.1173G>C (p.Lys391Asn)
c.6948G>C (p.Lys2316Asn)
c.6867G>C (p.Lys2289Asn)
n.6218G>C
c.6876G>C (p.Lys2292Asn)
c.6753G>C (p.Lys2251Asn)
n.1003G>C
c.4359G>C (p.Lys1453Asn)
c.6972G>C (p.Lys2324Asn)
c.4782G>C (p.Lys1594Asn)
c.4458G>C (p.Lys1486Asn)
11g.118502768G>TCA382803331KMT2Ac.6975G>T (p.Lys2325Asn)
c.6966G>T (p.Lys2322Asn)
c.915G>T (p.Lys305Asn)
c.1173G>T (p.Lys391Asn)
c.6948G>T (p.Lys2316Asn)
c.6867G>T (p.Lys2289Asn)
n.6218G>T
c.6876G>T (p.Lys2292Asn)
c.6753G>T (p.Lys2251Asn)
n.1003G>T
c.4359G>T (p.Lys1453Asn)
c.6972G>T (p.Lys2324Asn)
c.4782G>T (p.Lys1594Asn)
c.4458G>T (p.Lys1486Asn)
11g.118502769C>ACA6304319KMT2Ac.6976C>A (p.Gln2326Lys)
c.6967C>A (p.Gln2323Lys)
c.916C>A (p.Gln306Lys)
c.1174C>A (p.Gln392Lys)
c.6949C>A (p.Gln2317Lys)
c.6868C>A (p.Gln2290Lys)
n.6219C>A
c.6877C>A (p.Gln2293Lys)
c.6754C>A (p.Gln2252Lys)
n.1004C>A
c.4360C>A (p.Gln1454Lys)
c.6973C>A (p.Gln2325Lys)
c.4783C>A (p.Gln1595Lys)
c.4459C>A (p.Gln1487Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502769C=CA2003526778KMT2Ac.6976C= (p.Gln2326=)
c.6967C= (p.Gln2323=)
c.916C= (p.Gln306=)
c.1174C= (p.Gln392=)
c.6949C= (p.Gln2317=)
c.6868C= (p.Gln2290=)
n.6219C=
c.6877C= (p.Gln2293=)
c.6754C= (p.Gln2252=)
n.1004C=
c.4360C= (p.Gln1454=)
c.6973C= (p.Gln2325=)
c.4783C= (p.Gln1595=)
c.4459C= (p.Gln1487=)
11g.118502769C>GCA382803336KMT2Ac.6976C>G (p.Gln2326Glu)
c.6967C>G (p.Gln2323Glu)
c.916C>G (p.Gln306Glu)
c.1174C>G (p.Gln392Glu)
c.6949C>G (p.Gln2317Glu)
c.6868C>G (p.Gln2290Glu)
n.6219C>G
c.6877C>G (p.Gln2293Glu)
c.6754C>G (p.Gln2252Glu)
n.1004C>G
c.4360C>G (p.Gln1454Glu)
c.6973C>G (p.Gln2325Glu)
c.4783C>G (p.Gln1595Glu)
c.4459C>G (p.Gln1487Glu)
11g.118502769C>TCA382803335KMT2Ac.6976C>T (p.Gln2326Ter)
c.6967C>T (p.Gln2323Ter)
c.916C>T (p.Gln306Ter)
c.1174C>T (p.Gln392Ter)
c.6949C>T (p.Gln2317Ter)
c.6868C>T (p.Gln2290Ter)
n.6219C>T
c.6877C>T (p.Gln2293Ter)
c.6754C>T (p.Gln2252Ter)
n.1004C>T
c.4360C>T (p.Gln1454Ter)
c.6973C>T (p.Gln2325Ter)
c.4783C>T (p.Gln1595Ter)
c.4459C>T (p.Gln1487Ter)
dbSNP
11g.118502770A=CA2003526782KMT2Ac.6977A= (p.Gln2326=)
c.6968A= (p.Gln2323=)
c.917A= (p.Gln306=)
c.1175A= (p.Gln392=)
c.6950A= (p.Gln2317=)
c.6869A= (p.Gln2290=)
n.6220A=
c.6878A= (p.Gln2293=)
c.6755A= (p.Gln2252=)
n.1005A=
c.4361A= (p.Gln1454=)
c.6974A= (p.Gln2325=)
c.4784A= (p.Gln1595=)
c.4460A= (p.Gln1487=)
11g.118502770A>CCA382803339KMT2Ac.6977A>C (p.Gln2326Pro)
c.6968A>C (p.Gln2323Pro)
c.917A>C (p.Gln306Pro)
c.1175A>C (p.Gln392Pro)
c.6950A>C (p.Gln2317Pro)
c.6869A>C (p.Gln2290Pro)
n.6220A>C
c.6878A>C (p.Gln2293Pro)
c.6755A>C (p.Gln2252Pro)
n.1005A>C
c.4361A>C (p.Gln1454Pro)
c.6974A>C (p.Gln2325Pro)
c.4784A>C (p.Gln1595Pro)
c.4460A>C (p.Gln1487Pro)
gnomAD v4
11g.118502770A>GCA6304320KMT2Ac.6977A>G (p.Gln2326Arg)
c.6968A>G (p.Gln2323Arg)
c.917A>G (p.Gln306Arg)
c.1175A>G (p.Gln392Arg)
c.6950A>G (p.Gln2317Arg)
c.6869A>G (p.Gln2290Arg)
n.6220A>G
c.6878A>G (p.Gln2293Arg)
c.6755A>G (p.Gln2252Arg)
n.1005A>G
c.4361A>G (p.Gln1454Arg)
c.6974A>G (p.Gln2325Arg)
c.4784A>G (p.Gln1595Arg)
c.4460A>G (p.Gln1487Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502770A>TCA382803341KMT2Ac.6977A>T (p.Gln2326Leu)
c.6968A>T (p.Gln2323Leu)
c.917A>T (p.Gln306Leu)
c.1175A>T (p.Gln392Leu)
c.6950A>T (p.Gln2317Leu)
c.6869A>T (p.Gln2290Leu)
n.6220A>T
c.6878A>T (p.Gln2293Leu)
c.6755A>T (p.Gln2252Leu)
n.1005A>T
c.4361A>T (p.Gln1454Leu)
c.6974A>T (p.Gln2325Leu)
c.4784A>T (p.Gln1595Leu)
c.4460A>T (p.Gln1487Leu)

Number of alleles fetched