Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118502567T>ACA382802643KMT2Ac.6774T>A (p.Asn2258Lys)
c.6765T>A (p.Asn2255Lys)
c.714T>A (p.Asn238Lys)
c.972T>A (p.Asn324Lys)
c.6747T>A (p.Asn2249Lys)
c.6666T>A (p.Asn2222Lys)
n.6017T>A
c.6675T>A (p.Asn2225Lys)
c.6552T>A (p.Asn2184Lys)
n.802T>A
c.4158T>A (p.Asn1386Lys)
c.6771T>A (p.Asn2257Lys)
c.4581T>A (p.Asn1527Lys)
c.4257T>A (p.Asn1419Lys)
11g.118502567T>CCA477093527KMT2Ac.6774T>C (p.Asn2258=)
c.6765T>C (p.Asn2255=)
c.714T>C (p.Asn238=)
c.972T>C (p.Asn324=)
c.6747T>C (p.Asn2249=)
c.6666T>C (p.Asn2222=)
n.6017T>C
c.6675T>C (p.Asn2225=)
c.6552T>C (p.Asn2184=)
n.802T>C
c.4158T>C (p.Asn1386=)
c.6771T>C (p.Asn2257=)
c.4581T>C (p.Asn1527=)
c.4257T>C (p.Asn1419=)
11g.118502567T>GCA382802644KMT2Ac.6774T>G (p.Asn2258Lys)
c.6765T>G (p.Asn2255Lys)
c.714T>G (p.Asn238Lys)
c.972T>G (p.Asn324Lys)
c.6747T>G (p.Asn2249Lys)
c.6666T>G (p.Asn2222Lys)
n.6017T>G
c.6675T>G (p.Asn2225Lys)
c.6552T>G (p.Asn2184Lys)
n.802T>G
c.4158T>G (p.Asn1386Lys)
c.6771T>G (p.Asn2257Lys)
c.4581T>G (p.Asn1527Lys)
c.4257T>G (p.Asn1419Lys)
gnomAD v4
11g.118502568A>CCA382802647KMT2Ac.6775A>C (p.Asn2259His)
c.6766A>C (p.Asn2256His)
c.715A>C (p.Asn239His)
c.973A>C (p.Asn325His)
c.6748A>C (p.Asn2250His)
c.6667A>C (p.Asn2223His)
n.6018A>C
c.6676A>C (p.Asn2226His)
c.6553A>C (p.Asn2185His)
n.803A>C
c.4159A>C (p.Asn1387His)
c.6772A>C (p.Asn2258His)
c.4582A>C (p.Asn1528His)
c.4258A>C (p.Asn1420His)
11g.118502568A>GCA382802648KMT2Ac.6775A>G (p.Asn2259Asp)
c.6766A>G (p.Asn2256Asp)
c.715A>G (p.Asn239Asp)
c.973A>G (p.Asn325Asp)
c.6748A>G (p.Asn2250Asp)
c.6667A>G (p.Asn2223Asp)
n.6018A>G
c.6676A>G (p.Asn2226Asp)
c.6553A>G (p.Asn2185Asp)
n.803A>G
c.4159A>G (p.Asn1387Asp)
c.6772A>G (p.Asn2258Asp)
c.4582A>G (p.Asn1528Asp)
c.4258A>G (p.Asn1420Asp)
11g.118502568A>TCA382802649KMT2Ac.6775A>T (p.Asn2259Tyr)
c.6766A>T (p.Asn2256Tyr)
c.715A>T (p.Asn239Tyr)
c.973A>T (p.Asn325Tyr)
c.6748A>T (p.Asn2250Tyr)
c.6667A>T (p.Asn2223Tyr)
n.6018A>T
c.6676A>T (p.Asn2226Tyr)
c.6553A>T (p.Asn2185Tyr)
n.803A>T
c.4159A>T (p.Asn1387Tyr)
c.6772A>T (p.Asn2258Tyr)
c.4582A>T (p.Asn1528Tyr)
c.4258A>T (p.Asn1420Tyr)
11g.118502569A>CCA382802651KMT2Ac.6776A>C (p.Asn2259Thr)
c.6767A>C (p.Asn2256Thr)
c.716A>C (p.Asn239Thr)
c.974A>C (p.Asn325Thr)
c.6749A>C (p.Asn2250Thr)
c.6668A>C (p.Asn2223Thr)
n.6019A>C
c.6677A>C (p.Asn2226Thr)
c.6554A>C (p.Asn2185Thr)
n.804A>C
c.4160A>C (p.Asn1387Thr)
c.6773A>C (p.Asn2258Thr)
c.4583A>C (p.Asn1528Thr)
c.4259A>C (p.Asn1420Thr)
11g.118502569A>GCA382802653KMT2Ac.6776A>G (p.Asn2259Ser)
c.6767A>G (p.Asn2256Ser)
c.716A>G (p.Asn239Ser)
c.974A>G (p.Asn325Ser)
c.6749A>G (p.Asn2250Ser)
c.6668A>G (p.Asn2223Ser)
n.6019A>G
c.6677A>G (p.Asn2226Ser)
c.6554A>G (p.Asn2185Ser)
n.804A>G
c.4160A>G (p.Asn1387Ser)
c.6773A>G (p.Asn2258Ser)
c.4583A>G (p.Asn1528Ser)
c.4259A>G (p.Asn1420Ser)
11g.118502569A>TCA382802654KMT2Ac.6776A>T (p.Asn2259Ile)
c.6767A>T (p.Asn2256Ile)
c.716A>T (p.Asn239Ile)
c.974A>T (p.Asn325Ile)
c.6749A>T (p.Asn2250Ile)
c.6668A>T (p.Asn2223Ile)
n.6019A>T
c.6677A>T (p.Asn2226Ile)
c.6554A>T (p.Asn2185Ile)
n.804A>T
c.4160A>T (p.Asn1387Ile)
c.6773A>T (p.Asn2258Ile)
c.4583A>T (p.Asn1528Ile)
c.4259A>T (p.Asn1420Ile)
11g.118502570T>ACA382802657KMT2Ac.6777T>A (p.Asn2259Lys)
c.6768T>A (p.Asn2256Lys)
c.717T>A (p.Asn239Lys)
c.975T>A (p.Asn325Lys)
c.6750T>A (p.Asn2250Lys)
c.6669T>A (p.Asn2223Lys)
n.6020T>A
c.6678T>A (p.Asn2226Lys)
c.6555T>A (p.Asn2185Lys)
n.805T>A
c.4161T>A (p.Asn1387Lys)
c.6774T>A (p.Asn2258Lys)
c.4584T>A (p.Asn1528Lys)
c.4260T>A (p.Asn1420Lys)
11g.118502570T>CCA6304295KMT2Ac.6777T>C (p.Asn2259=)
c.6768T>C (p.Asn2256=)
c.717T>C (p.Asn239=)
c.975T>C (p.Asn325=)
c.6750T>C (p.Asn2250=)
c.6669T>C (p.Asn2223=)
n.6020T>C
c.6678T>C (p.Asn2226=)
c.6555T>C (p.Asn2185=)
n.805T>C
c.4161T>C (p.Asn1387=)
c.6774T>C (p.Asn2258=)
c.4584T>C (p.Asn1528=)
c.4260T>C (p.Asn1420=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502570T>GCA382802659KMT2Ac.6777T>G (p.Asn2259Lys)
c.6768T>G (p.Asn2256Lys)
c.717T>G (p.Asn239Lys)
c.975T>G (p.Asn325Lys)
c.6750T>G (p.Asn2250Lys)
c.6669T>G (p.Asn2223Lys)
n.6020T>G
c.6678T>G (p.Asn2226Lys)
c.6555T>G (p.Asn2185Lys)
n.805T>G
c.4161T>G (p.Asn1387Lys)
c.6774T>G (p.Asn2258Lys)
c.4584T>G (p.Asn1528Lys)
c.4260T>G (p.Asn1420Lys)
11g.118502570T=CA2003526432KMT2Ac.6777T= (p.Asn2259=)
c.6768T= (p.Asn2256=)
c.717T= (p.Asn239=)
c.975T= (p.Asn325=)
c.6750T= (p.Asn2250=)
c.6669T= (p.Asn2223=)
n.6020T=
c.6678T= (p.Asn2226=)
c.6555T= (p.Asn2185=)
n.805T=
c.4161T= (p.Asn1387=)
c.6774T= (p.Asn2258=)
c.4584T= (p.Asn1528=)
c.4260T= (p.Asn1420=)
11g.118502571G>ACA382802661KMT2Ac.6778G>A (p.Val2260Ile)
c.6769G>A (p.Val2257Ile)
c.718G>A (p.Val240Ile)
c.976G>A (p.Val326Ile)
c.6751G>A (p.Val2251Ile)
c.6670G>A (p.Val2224Ile)
n.6021G>A
c.6679G>A (p.Val2227Ile)
c.6556G>A (p.Val2186Ile)
n.806G>A
c.4162G>A (p.Val1388Ile)
c.6775G>A (p.Val2259Ile)
c.4585G>A (p.Val1529Ile)
c.4261G>A (p.Val1421Ile)
dbSNP gnomAD v2
11g.118502571G>CCA382802663KMT2Ac.6778G>C (p.Val2260Leu)
c.6769G>C (p.Val2257Leu)
c.718G>C (p.Val240Leu)
c.976G>C (p.Val326Leu)
c.6751G>C (p.Val2251Leu)
c.6670G>C (p.Val2224Leu)
n.6021G>C
c.6679G>C (p.Val2227Leu)
c.6556G>C (p.Val2186Leu)
n.806G>C
c.4162G>C (p.Val1388Leu)
c.6775G>C (p.Val2259Leu)
c.4585G>C (p.Val1529Leu)
c.4261G>C (p.Val1421Leu)
11g.118502571G=CA2003526437KMT2Ac.6778G= (p.Val2260=)
c.6769G= (p.Val2257=)
c.718G= (p.Val240=)
c.976G= (p.Val326=)
c.6751G= (p.Val2251=)
c.6670G= (p.Val2224=)
n.6021G=
c.6679G= (p.Val2227=)
c.6556G= (p.Val2186=)
n.806G=
c.4162G= (p.Val1388=)
c.6775G= (p.Val2259=)
c.4585G= (p.Val1529=)
c.4261G= (p.Val1421=)
11g.118502571G>TCA382802665KMT2Ac.6778G>T (p.Val2260Phe)
c.6769G>T (p.Val2257Phe)
c.718G>T (p.Val240Phe)
c.976G>T (p.Val326Phe)
c.6751G>T (p.Val2251Phe)
c.6670G>T (p.Val2224Phe)
n.6021G>T
c.6679G>T (p.Val2227Phe)
c.6556G>T (p.Val2186Phe)
n.806G>T
c.4162G>T (p.Val1388Phe)
c.6775G>T (p.Val2259Phe)
c.4585G>T (p.Val1529Phe)
c.4261G>T (p.Val1421Phe)
11g.118502572T>ACA382802668KMT2Ac.6779T>A (p.Val2260Asp)
c.6770T>A (p.Val2257Asp)
c.719T>A (p.Val240Asp)
c.977T>A (p.Val326Asp)
c.6752T>A (p.Val2251Asp)
c.6671T>A (p.Val2224Asp)
n.6022T>A
c.6680T>A (p.Val2227Asp)
c.6557T>A (p.Val2186Asp)
n.807T>A
c.4163T>A (p.Val1388Asp)
c.6776T>A (p.Val2259Asp)
c.4586T>A (p.Val1529Asp)
c.4262T>A (p.Val1421Asp)
11g.118502572T>CCA382802670KMT2Ac.6779T>C (p.Val2260Ala)
c.6770T>C (p.Val2257Ala)
c.719T>C (p.Val240Ala)
c.977T>C (p.Val326Ala)
c.6752T>C (p.Val2251Ala)
c.6671T>C (p.Val2224Ala)
n.6022T>C
c.6680T>C (p.Val2227Ala)
c.6557T>C (p.Val2186Ala)
n.807T>C
c.4163T>C (p.Val1388Ala)
c.6776T>C (p.Val2259Ala)
c.4586T>C (p.Val1529Ala)
c.4262T>C (p.Val1421Ala)
11g.118502572T>GCA382802667KMT2Ac.6779T>G (p.Val2260Gly)
c.6770T>G (p.Val2257Gly)
c.719T>G (p.Val240Gly)
c.977T>G (p.Val326Gly)
c.6752T>G (p.Val2251Gly)
c.6671T>G (p.Val2224Gly)
n.6022T>G
c.6680T>G (p.Val2227Gly)
c.6557T>G (p.Val2186Gly)
n.807T>G
c.4163T>G (p.Val1388Gly)
c.6776T>G (p.Val2259Gly)
c.4586T>G (p.Val1529Gly)
c.4262T>G (p.Val1421Gly)
11g.118502574dupCA2725086112KMT2Ac.6781dup (p.Ser2261PhefsTer11)
c.6772dup (p.Ser2258PhefsTer11)
c.721dup (p.Ser241PhefsTer11)
c.979dup (p.Ser327PhefsTer11)
c.6754dup (p.Ser2252PhefsTer11)
c.6673dup (p.Ser2225PhefsTer11)
n.6024dup
c.6682dup (p.Ser2228PhefsTer11)
c.6559dup (p.Ser2187PhefsTer11)
n.809dup
c.4165dup (p.Ser1389PhefsTer11)
c.6778dup (p.Ser2260PhefsTer11)
c.4588dup (p.Ser1530PhefsTer11)
c.4264dup (p.Ser1422PhefsTer11)
dbSNP
11g.118502573T>ACA477093528KMT2Ac.6780T>A (p.Val2260=)
c.6771T>A (p.Val2257=)
c.720T>A (p.Val240=)
c.978T>A (p.Val326=)
c.6753T>A (p.Val2251=)
c.6672T>A (p.Val2224=)
n.6023T>A
c.6681T>A (p.Val2227=)
c.6558T>A (p.Val2186=)
n.808T>A
c.4164T>A (p.Val1388=)
c.6777T>A (p.Val2259=)
c.4587T>A (p.Val1529=)
c.4263T>A (p.Val1421=)
11g.118502573T>CCA477093529KMT2Ac.6780T>C (p.Val2260=)
c.6771T>C (p.Val2257=)
c.720T>C (p.Val240=)
c.978T>C (p.Val326=)
c.6753T>C (p.Val2251=)
c.6672T>C (p.Val2224=)
n.6023T>C
c.6681T>C (p.Val2227=)
c.6558T>C (p.Val2186=)
n.808T>C
c.4164T>C (p.Val1388=)
c.6777T>C (p.Val2259=)
c.4587T>C (p.Val1529=)
c.4263T>C (p.Val1421=)
11g.118502573T>GCA477093531KMT2Ac.6780T>G (p.Val2260=)
c.6771T>G (p.Val2257=)
c.720T>G (p.Val240=)
c.978T>G (p.Val326=)
c.6753T>G (p.Val2251=)
c.6672T>G (p.Val2224=)
n.6023T>G
c.6681T>G (p.Val2227=)
c.6558T>G (p.Val2186=)
n.808T>G
c.4164T>G (p.Val1388=)
c.6777T>G (p.Val2259=)
c.4587T>G (p.Val1529=)
c.4263T>G (p.Val1421=)
11g.118502574T>ACA382802677KMT2Ac.6781T>A (p.Ser2261Thr)
c.6772T>A (p.Ser2258Thr)
c.721T>A (p.Ser241Thr)
c.979T>A (p.Ser327Thr)
c.6754T>A (p.Ser2252Thr)
c.6673T>A (p.Ser2225Thr)
n.6024T>A
c.6682T>A (p.Ser2228Thr)
c.6559T>A (p.Ser2187Thr)
n.809T>A
c.4165T>A (p.Ser1389Thr)
c.6778T>A (p.Ser2260Thr)
c.4588T>A (p.Ser1530Thr)
c.4264T>A (p.Ser1422Thr)
11g.118502574T>CCA382802673KMT2Ac.6781T>C (p.Ser2261Pro)
c.6772T>C (p.Ser2258Pro)
c.721T>C (p.Ser241Pro)
c.979T>C (p.Ser327Pro)
c.6754T>C (p.Ser2252Pro)
c.6673T>C (p.Ser2225Pro)
n.6024T>C
c.6682T>C (p.Ser2228Pro)
c.6559T>C (p.Ser2187Pro)
n.809T>C
c.4165T>C (p.Ser1389Pro)
c.6778T>C (p.Ser2260Pro)
c.4588T>C (p.Ser1530Pro)
c.4264T>C (p.Ser1422Pro)
11g.118502574T>GCA382802675KMT2Ac.6781T>G (p.Ser2261Ala)
c.6772T>G (p.Ser2258Ala)
c.721T>G (p.Ser241Ala)
c.979T>G (p.Ser327Ala)
c.6754T>G (p.Ser2252Ala)
c.6673T>G (p.Ser2225Ala)
n.6024T>G
c.6682T>G (p.Ser2228Ala)
c.6559T>G (p.Ser2187Ala)
n.809T>G
c.4165T>G (p.Ser1389Ala)
c.6778T>G (p.Ser2260Ala)
c.4588T>G (p.Ser1530Ala)
c.4264T>G (p.Ser1422Ala)
11g.118502575C>ACA382802678KMT2Ac.6782C>A (p.Ser2261Tyr)
c.6773C>A (p.Ser2258Tyr)
c.722C>A (p.Ser241Tyr)
c.980C>A (p.Ser327Tyr)
c.6755C>A (p.Ser2252Tyr)
c.6674C>A (p.Ser2225Tyr)
n.6025C>A
c.6683C>A (p.Ser2228Tyr)
c.6560C>A (p.Ser2187Tyr)
n.810C>A
c.4166C>A (p.Ser1389Tyr)
c.6779C>A (p.Ser2260Tyr)
c.4589C>A (p.Ser1530Tyr)
c.4265C>A (p.Ser1422Tyr)
11g.118502575C>GCA382802679KMT2Ac.6782C>G (p.Ser2261Cys)
c.6773C>G (p.Ser2258Cys)
c.722C>G (p.Ser241Cys)
c.980C>G (p.Ser327Cys)
c.6755C>G (p.Ser2252Cys)
c.6674C>G (p.Ser2225Cys)
n.6025C>G
c.6683C>G (p.Ser2228Cys)
c.6560C>G (p.Ser2187Cys)
n.810C>G
c.4166C>G (p.Ser1389Cys)
c.6779C>G (p.Ser2260Cys)
c.4589C>G (p.Ser1530Cys)
c.4265C>G (p.Ser1422Cys)
dbSNP
11g.118502575C>TCA382802681KMT2Ac.6782C>T (p.Ser2261Phe)
c.6773C>T (p.Ser2258Phe)
c.722C>T (p.Ser241Phe)
c.980C>T (p.Ser327Phe)
c.6755C>T (p.Ser2252Phe)
c.6674C>T (p.Ser2225Phe)
n.6025C>T
c.6683C>T (p.Ser2228Phe)
c.6560C>T (p.Ser2187Phe)
n.810C>T
c.4166C>T (p.Ser1389Phe)
c.6779C>T (p.Ser2260Phe)
c.4589C>T (p.Ser1530Phe)
c.4265C>T (p.Ser1422Phe)
COSMIC COSMIC
11g.118502576C>ACA477093532KMT2Ac.6783C>A (p.Ser2261=)
c.6774C>A (p.Ser2258=)
c.723C>A (p.Ser241=)
c.981C>A (p.Ser327=)
c.6756C>A (p.Ser2252=)
c.6675C>A (p.Ser2225=)
n.6026C>A
c.6684C>A (p.Ser2228=)
c.6561C>A (p.Ser2187=)
n.811C>A
c.4167C>A (p.Ser1389=)
c.6780C>A (p.Ser2260=)
c.4590C>A (p.Ser1530=)
c.4266C>A (p.Ser1422=)
11g.118502576C>GCA477093533KMT2Ac.6783C>G (p.Ser2261=)
c.6774C>G (p.Ser2258=)
c.723C>G (p.Ser241=)
c.981C>G (p.Ser327=)
c.6756C>G (p.Ser2252=)
c.6675C>G (p.Ser2225=)
n.6026C>G
c.6684C>G (p.Ser2228=)
c.6561C>G (p.Ser2187=)
n.811C>G
c.4167C>G (p.Ser1389=)
c.6780C>G (p.Ser2260=)
c.4590C>G (p.Ser1530=)
c.4266C>G (p.Ser1422=)
11g.118502576C>TCA477093534KMT2Ac.6783C>T (p.Ser2261=)
c.6774C>T (p.Ser2258=)
c.723C>T (p.Ser241=)
c.981C>T (p.Ser327=)
c.6756C>T (p.Ser2252=)
c.6675C>T (p.Ser2225=)
n.6026C>T
c.6684C>T (p.Ser2228=)
c.6561C>T (p.Ser2187=)
n.811C>T
c.4167C>T (p.Ser1389=)
c.6780C>T (p.Ser2260=)
c.4590C>T (p.Ser1530=)
c.4266C>T (p.Ser1422=)
11g.118502577T>ACA6304296KMT2Ac.6784T>A (p.Ser2262Thr)
c.6775T>A (p.Ser2259Thr)
c.724T>A (p.Ser242Thr)
c.982T>A (p.Ser328Thr)
c.6757T>A (p.Ser2253Thr)
c.6676T>A (p.Ser2226Thr)
n.6027T>A
c.6685T>A (p.Ser2229Thr)
c.6562T>A (p.Ser2188Thr)
n.812T>A
c.4168T>A (p.Ser1390Thr)
c.6781T>A (p.Ser2261Thr)
c.4591T>A (p.Ser1531Thr)
c.4267T>A (p.Ser1423Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502577T>CCA382802682KMT2Ac.6784T>C (p.Ser2262Pro)
c.6775T>C (p.Ser2259Pro)
c.724T>C (p.Ser242Pro)
c.982T>C (p.Ser328Pro)
c.6757T>C (p.Ser2253Pro)
c.6676T>C (p.Ser2226Pro)
n.6027T>C
c.6685T>C (p.Ser2229Pro)
c.6562T>C (p.Ser2188Pro)
n.812T>C
c.4168T>C (p.Ser1390Pro)
c.6781T>C (p.Ser2261Pro)
c.4591T>C (p.Ser1531Pro)
c.4267T>C (p.Ser1423Pro)
dbSNP
11g.118502577T>GCA382802683KMT2Ac.6784T>G (p.Ser2262Ala)
c.6775T>G (p.Ser2259Ala)
c.724T>G (p.Ser242Ala)
c.982T>G (p.Ser328Ala)
c.6757T>G (p.Ser2253Ala)
c.6676T>G (p.Ser2226Ala)
n.6027T>G
c.6685T>G (p.Ser2229Ala)
c.6562T>G (p.Ser2188Ala)
n.812T>G
c.4168T>G (p.Ser1390Ala)
c.6781T>G (p.Ser2261Ala)
c.4591T>G (p.Ser1531Ala)
c.4267T>G (p.Ser1423Ala)
11g.118502577T=CA2003526447KMT2Ac.6784T= (p.Ser2262=)
c.6775T= (p.Ser2259=)
c.724T= (p.Ser242=)
c.982T= (p.Ser328=)
c.6757T= (p.Ser2253=)
c.6676T= (p.Ser2226=)
n.6027T=
c.6685T= (p.Ser2229=)
c.6562T= (p.Ser2188=)
n.812T=
c.4168T= (p.Ser1390=)
c.6781T= (p.Ser2261=)
c.4591T= (p.Ser1531=)
c.4267T= (p.Ser1423=)
11g.118502578C>ACA382802684KMT2Ac.6785C>A (p.Ser2262Ter)
c.6776C>A (p.Ser2259Ter)
c.725C>A (p.Ser242Ter)
c.983C>A (p.Ser328Ter)
c.6758C>A (p.Ser2253Ter)
c.6677C>A (p.Ser2226Ter)
n.6028C>A
c.6686C>A (p.Ser2229Ter)
c.6563C>A (p.Ser2188Ter)
n.813C>A
c.4169C>A (p.Ser1390Ter)
c.6782C>A (p.Ser2261Ter)
c.4592C>A (p.Ser1531Ter)
c.4268C>A (p.Ser1423Ter)
dbSNP
11g.118502578C>GCA382802685KMT2Ac.6785C>G (p.Ser2262Ter)
c.6776C>G (p.Ser2259Ter)
c.725C>G (p.Ser242Ter)
c.983C>G (p.Ser328Ter)
c.6758C>G (p.Ser2253Ter)
c.6677C>G (p.Ser2226Ter)
n.6028C>G
c.6686C>G (p.Ser2229Ter)
c.6563C>G (p.Ser2188Ter)
n.813C>G
c.4169C>G (p.Ser1390Ter)
c.6782C>G (p.Ser2261Ter)
c.4592C>G (p.Ser1531Ter)
c.4268C>G (p.Ser1423Ter)
11g.118502578C>TCA382802687KMT2Ac.6785C>T (p.Ser2262Leu)
c.6776C>T (p.Ser2259Leu)
c.725C>T (p.Ser242Leu)
c.983C>T (p.Ser328Leu)
c.6758C>T (p.Ser2253Leu)
c.6677C>T (p.Ser2226Leu)
n.6028C>T
c.6686C>T (p.Ser2229Leu)
c.6563C>T (p.Ser2188Leu)
n.813C>T
c.4169C>T (p.Ser1390Leu)
c.6782C>T (p.Ser2261Leu)
c.4592C>T (p.Ser1531Leu)
c.4268C>T (p.Ser1423Leu)
ClinVar
11g.118502579A>CCA477093535KMT2Ac.6786A>C (p.Ser2262=)
c.6777A>C (p.Ser2259=)
c.726A>C (p.Ser242=)
c.984A>C (p.Ser328=)
c.6759A>C (p.Ser2253=)
c.6678A>C (p.Ser2226=)
n.6029A>C
c.6687A>C (p.Ser2229=)
c.6564A>C (p.Ser2188=)
n.814A>C
c.4170A>C (p.Ser1390=)
c.6783A>C (p.Ser2261=)
c.4593A>C (p.Ser1531=)
c.4269A>C (p.Ser1423=)
11g.118502579A>GCA477093536KMT2Ac.6786A>G (p.Ser2262=)
c.6777A>G (p.Ser2259=)
c.726A>G (p.Ser242=)
c.984A>G (p.Ser328=)
c.6759A>G (p.Ser2253=)
c.6678A>G (p.Ser2226=)
n.6029A>G
c.6687A>G (p.Ser2229=)
c.6564A>G (p.Ser2188=)
n.814A>G
c.4170A>G (p.Ser1390=)
c.6783A>G (p.Ser2261=)
c.4593A>G (p.Ser1531=)
c.4269A>G (p.Ser1423=)
11g.118502579A>TCA477093537KMT2Ac.6786A>T (p.Ser2262=)
c.6777A>T (p.Ser2259=)
c.726A>T (p.Ser242=)
c.984A>T (p.Ser328=)
c.6759A>T (p.Ser2253=)
c.6678A>T (p.Ser2226=)
n.6029A>T
c.6687A>T (p.Ser2229=)
c.6564A>T (p.Ser2188=)
n.814A>T
c.4170A>T (p.Ser1390=)
c.6783A>T (p.Ser2261=)
c.4593A>T (p.Ser1531=)
c.4269A>T (p.Ser1423=)
11g.118502580G>ACA382802691KMT2Ac.6787G>A (p.Val2263Ile)
c.6778G>A (p.Val2260Ile)
c.727G>A (p.Val243Ile)
c.985G>A (p.Val329Ile)
c.6760G>A (p.Val2254Ile)
c.6679G>A (p.Val2227Ile)
n.6030G>A
c.6688G>A (p.Val2230Ile)
c.6565G>A (p.Val2189Ile)
n.815G>A
c.4171G>A (p.Val1391Ile)
c.6784G>A (p.Val2262Ile)
c.4594G>A (p.Val1532Ile)
c.4270G>A (p.Val1424Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.118502580G>CCA382802690KMT2Ac.6787G>C (p.Val2263Leu)
c.6778G>C (p.Val2260Leu)
c.727G>C (p.Val243Leu)
c.985G>C (p.Val329Leu)
c.6760G>C (p.Val2254Leu)
c.6679G>C (p.Val2227Leu)
n.6030G>C
c.6688G>C (p.Val2230Leu)
c.6565G>C (p.Val2189Leu)
n.815G>C
c.4171G>C (p.Val1391Leu)
c.6784G>C (p.Val2262Leu)
c.4594G>C (p.Val1532Leu)
c.4270G>C (p.Val1424Leu)
11g.118502580G=CA2003526454KMT2Ac.6787G= (p.Val2263=)
c.6778G= (p.Val2260=)
c.727G= (p.Val243=)
c.985G= (p.Val329=)
c.6760G= (p.Val2254=)
c.6679G= (p.Val2227=)
n.6030G=
c.6688G= (p.Val2230=)
c.6565G= (p.Val2189=)
n.815G=
c.4171G= (p.Val1391=)
c.6784G= (p.Val2262=)
c.4594G= (p.Val1532=)
c.4270G= (p.Val1424=)
11g.118502580G>TCA382802689KMT2Ac.6787G>T (p.Val2263Phe)
c.6778G>T (p.Val2260Phe)
c.727G>T (p.Val243Phe)
c.985G>T (p.Val329Phe)
c.6760G>T (p.Val2254Phe)
c.6679G>T (p.Val2227Phe)
n.6030G>T
c.6688G>T (p.Val2230Phe)
c.6565G>T (p.Val2189Phe)
n.815G>T
c.4171G>T (p.Val1391Phe)
c.6784G>T (p.Val2262Phe)
c.4594G>T (p.Val1532Phe)
c.4270G>T (p.Val1424Phe)
ClinVar gnomAD v4 COSMIC COSMIC
11g.118502581T>ACA382802693KMT2Ac.6788T>A (p.Val2263Asp)
c.6779T>A (p.Val2260Asp)
c.728T>A (p.Val243Asp)
c.986T>A (p.Val329Asp)
c.6761T>A (p.Val2254Asp)
c.6680T>A (p.Val2227Asp)
n.6031T>A
c.6689T>A (p.Val2230Asp)
c.6566T>A (p.Val2189Asp)
n.816T>A
c.4172T>A (p.Val1391Asp)
c.6785T>A (p.Val2262Asp)
c.4595T>A (p.Val1532Asp)
c.4271T>A (p.Val1424Asp)
11g.118502581T>CCA382802695KMT2Ac.6788T>C (p.Val2263Ala)
c.6779T>C (p.Val2260Ala)
c.728T>C (p.Val243Ala)
c.986T>C (p.Val329Ala)
c.6761T>C (p.Val2254Ala)
c.6680T>C (p.Val2227Ala)
n.6031T>C
c.6689T>C (p.Val2230Ala)
c.6566T>C (p.Val2189Ala)
n.816T>C
c.4172T>C (p.Val1391Ala)
c.6785T>C (p.Val2262Ala)
c.4595T>C (p.Val1532Ala)
c.4271T>C (p.Val1424Ala)
11g.118502581T>GCA382802696KMT2Ac.6788T>G (p.Val2263Gly)
c.6779T>G (p.Val2260Gly)
c.728T>G (p.Val243Gly)
c.986T>G (p.Val329Gly)
c.6761T>G (p.Val2254Gly)
c.6680T>G (p.Val2227Gly)
n.6031T>G
c.6689T>G (p.Val2230Gly)
c.6566T>G (p.Val2189Gly)
n.816T>G
c.4172T>G (p.Val1391Gly)
c.6785T>G (p.Val2262Gly)
c.4595T>G (p.Val1532Gly)
c.4271T>G (p.Val1424Gly)
11g.118502582C>ACA477093540KMT2Ac.6789C>A (p.Val2263=)
c.6780C>A (p.Val2260=)
c.729C>A (p.Val243=)
c.987C>A (p.Val329=)
c.6762C>A (p.Val2254=)
c.6681C>A (p.Val2227=)
n.6032C>A
c.6690C>A (p.Val2230=)
c.6567C>A (p.Val2189=)
n.817C>A
c.4173C>A (p.Val1391=)
c.6786C>A (p.Val2262=)
c.4596C>A (p.Val1532=)
c.4272C>A (p.Val1424=)
11g.118502582C>GCA477093539KMT2Ac.6789C>G (p.Val2263=)
c.6780C>G (p.Val2260=)
c.729C>G (p.Val243=)
c.987C>G (p.Val329=)
c.6762C>G (p.Val2254=)
c.6681C>G (p.Val2227=)
n.6032C>G
c.6690C>G (p.Val2230=)
c.6567C>G (p.Val2189=)
n.817C>G
c.4173C>G (p.Val1391=)
c.6786C>G (p.Val2262=)
c.4596C>G (p.Val1532=)
c.4272C>G (p.Val1424=)
11g.118502582C>TCA477093538KMT2Ac.6789C>T (p.Val2263=)
c.6780C>T (p.Val2260=)
c.729C>T (p.Val243=)
c.987C>T (p.Val329=)
c.6762C>T (p.Val2254=)
c.6681C>T (p.Val2227=)
n.6032C>T
c.6690C>T (p.Val2230=)
c.6567C>T (p.Val2189=)
n.817C>T
c.4173C>T (p.Val1391=)
c.6786C>T (p.Val2262=)
c.4596C>T (p.Val1532=)
c.4272C>T (p.Val1424=)
11g.118502583T>ACA382802697KMT2Ac.6790T>A (p.Ser2264Thr)
c.6781T>A (p.Ser2261Thr)
c.730T>A (p.Ser244Thr)
c.988T>A (p.Ser330Thr)
c.6763T>A (p.Ser2255Thr)
c.6682T>A (p.Ser2228Thr)
n.6033T>A
c.6691T>A (p.Ser2231Thr)
c.6568T>A (p.Ser2190Thr)
n.818T>A
c.4174T>A (p.Ser1392Thr)
c.6787T>A (p.Ser2263Thr)
c.4597T>A (p.Ser1533Thr)
c.4273T>A (p.Ser1425Thr)
11g.118502583T>CCA382802699KMT2Ac.6790T>C (p.Ser2264Pro)
c.6781T>C (p.Ser2261Pro)
c.730T>C (p.Ser244Pro)
c.988T>C (p.Ser330Pro)
c.6763T>C (p.Ser2255Pro)
c.6682T>C (p.Ser2228Pro)
n.6033T>C
c.6691T>C (p.Ser2231Pro)
c.6568T>C (p.Ser2190Pro)
n.818T>C
c.4174T>C (p.Ser1392Pro)
c.6787T>C (p.Ser2263Pro)
c.4597T>C (p.Ser1533Pro)
c.4273T>C (p.Ser1425Pro)
11g.118502583T>GCA382802700KMT2Ac.6790T>G (p.Ser2264Ala)
c.6781T>G (p.Ser2261Ala)
c.730T>G (p.Ser244Ala)
c.988T>G (p.Ser330Ala)
c.6763T>G (p.Ser2255Ala)
c.6682T>G (p.Ser2228Ala)
n.6033T>G
c.6691T>G (p.Ser2231Ala)
c.6568T>G (p.Ser2190Ala)
n.818T>G
c.4174T>G (p.Ser1392Ala)
c.6787T>G (p.Ser2263Ala)
c.4597T>G (p.Ser1533Ala)
c.4273T>G (p.Ser1425Ala)
11g.118502584C>ACA382802702KMT2Ac.6791C>A (p.Ser2264Tyr)
c.6782C>A (p.Ser2261Tyr)
c.731C>A (p.Ser244Tyr)
c.989C>A (p.Ser330Tyr)
c.6764C>A (p.Ser2255Tyr)
c.6683C>A (p.Ser2228Tyr)
n.6034C>A
c.6692C>A (p.Ser2231Tyr)
c.6569C>A (p.Ser2190Tyr)
n.819C>A
c.4175C>A (p.Ser1392Tyr)
c.6788C>A (p.Ser2263Tyr)
c.4598C>A (p.Ser1533Tyr)
c.4274C>A (p.Ser1425Tyr)
dbSNP
11g.118502584C>GCA382802703KMT2Ac.6791C>G (p.Ser2264Cys)
c.6782C>G (p.Ser2261Cys)
c.731C>G (p.Ser244Cys)
c.989C>G (p.Ser330Cys)
c.6764C>G (p.Ser2255Cys)
c.6683C>G (p.Ser2228Cys)
n.6034C>G
c.6692C>G (p.Ser2231Cys)
c.6569C>G (p.Ser2190Cys)
n.819C>G
c.4175C>G (p.Ser1392Cys)
c.6788C>G (p.Ser2263Cys)
c.4598C>G (p.Ser1533Cys)
c.4274C>G (p.Ser1425Cys)
11g.118502584C>TCA382802705KMT2Ac.6791C>T (p.Ser2264Phe)
c.6782C>T (p.Ser2261Phe)
c.731C>T (p.Ser244Phe)
c.989C>T (p.Ser330Phe)
c.6764C>T (p.Ser2255Phe)
c.6683C>T (p.Ser2228Phe)
n.6034C>T
c.6692C>T (p.Ser2231Phe)
c.6569C>T (p.Ser2190Phe)
n.819C>T
c.4175C>T (p.Ser1392Phe)
c.6788C>T (p.Ser2263Phe)
c.4598C>T (p.Ser1533Phe)
c.4274C>T (p.Ser1425Phe)
11g.118502585C>ACA477093541KMT2Ac.6792C>A (p.Ser2264=)
c.6783C>A (p.Ser2261=)
c.732C>A (p.Ser244=)
c.990C>A (p.Ser330=)
c.6765C>A (p.Ser2255=)
c.6684C>A (p.Ser2228=)
n.6035C>A
c.6693C>A (p.Ser2231=)
c.6570C>A (p.Ser2190=)
n.820C>A
c.4176C>A (p.Ser1392=)
c.6789C>A (p.Ser2263=)
c.4599C>A (p.Ser1533=)
c.4275C>A (p.Ser1425=)
11g.118502585C=CA2003526463KMT2Ac.6792C= (p.Ser2264=)
c.6783C= (p.Ser2261=)
c.732C= (p.Ser244=)
c.990C= (p.Ser330=)
c.6765C= (p.Ser2255=)
c.6684C= (p.Ser2228=)
n.6035C=
c.6693C= (p.Ser2231=)
c.6570C= (p.Ser2190=)
n.820C=
c.4176C= (p.Ser1392=)
c.6789C= (p.Ser2263=)
c.4599C= (p.Ser1533=)
c.4275C= (p.Ser1425=)
11g.118502585C>GCA477093542KMT2Ac.6792C>G (p.Ser2264=)
c.6783C>G (p.Ser2261=)
c.732C>G (p.Ser244=)
c.990C>G (p.Ser330=)
c.6765C>G (p.Ser2255=)
c.6684C>G (p.Ser2228=)
n.6035C>G
c.6693C>G (p.Ser2231=)
c.6570C>G (p.Ser2190=)
n.820C>G
c.4176C>G (p.Ser1392=)
c.6789C>G (p.Ser2263=)
c.4599C>G (p.Ser1533=)
c.4275C>G (p.Ser1425=)
11g.118502585C>TCA6304297KMT2Ac.6792C>T (p.Ser2264=)
c.6783C>T (p.Ser2261=)
c.732C>T (p.Ser244=)
c.990C>T (p.Ser330=)
c.6765C>T (p.Ser2255=)
c.6684C>T (p.Ser2228=)
n.6035C>T
c.6693C>T (p.Ser2231=)
c.6570C>T (p.Ser2190=)
n.820C>T
c.4176C>T (p.Ser1392=)
c.6789C>T (p.Ser2263=)
c.4599C>T (p.Ser1533=)
c.4275C>T (p.Ser1425=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502586A>CCA382802709KMT2Ac.6793A>C (p.Thr2265Pro)
c.6784A>C (p.Thr2262Pro)
c.733A>C (p.Thr245Pro)
c.991A>C (p.Thr331Pro)
c.6766A>C (p.Thr2256Pro)
c.6685A>C (p.Thr2229Pro)
n.6036A>C
c.6694A>C (p.Thr2232Pro)
c.6571A>C (p.Thr2191Pro)
n.821A>C
c.4177A>C (p.Thr1393Pro)
c.6790A>C (p.Thr2264Pro)
c.4600A>C (p.Thr1534Pro)
c.4276A>C (p.Thr1426Pro)
dbSNP
11g.118502586A>GCA382802711KMT2Ac.6793A>G (p.Thr2265Ala)
c.6784A>G (p.Thr2262Ala)
c.733A>G (p.Thr245Ala)
c.991A>G (p.Thr331Ala)
c.6766A>G (p.Thr2256Ala)
c.6685A>G (p.Thr2229Ala)
n.6036A>G
c.6694A>G (p.Thr2232Ala)
c.6571A>G (p.Thr2191Ala)
n.821A>G
c.4177A>G (p.Thr1393Ala)
c.6790A>G (p.Thr2264Ala)
c.4600A>G (p.Thr1534Ala)
c.4276A>G (p.Thr1426Ala)
11g.118502586A>TCA382802712KMT2Ac.6793A>T (p.Thr2265Ser)
c.6784A>T (p.Thr2262Ser)
c.733A>T (p.Thr245Ser)
c.991A>T (p.Thr331Ser)
c.6766A>T (p.Thr2256Ser)
c.6685A>T (p.Thr2229Ser)
n.6036A>T
c.6694A>T (p.Thr2232Ser)
c.6571A>T (p.Thr2191Ser)
n.821A>T
c.4177A>T (p.Thr1393Ser)
c.6790A>T (p.Thr2264Ser)
c.4600A>T (p.Thr1534Ser)
c.4276A>T (p.Thr1426Ser)
dbSNP
11g.118502587C>ACA382802715KMT2Ac.6794C>A (p.Thr2265Asn)
c.6785C>A (p.Thr2262Asn)
c.734C>A (p.Thr245Asn)
c.992C>A (p.Thr331Asn)
c.6767C>A (p.Thr2256Asn)
c.6686C>A (p.Thr2229Asn)
n.6037C>A
c.6695C>A (p.Thr2232Asn)
c.6572C>A (p.Thr2191Asn)
n.822C>A
c.4178C>A (p.Thr1393Asn)
c.6791C>A (p.Thr2264Asn)
c.4601C>A (p.Thr1534Asn)
c.4277C>A (p.Thr1426Asn)
11g.118502587C>GCA382802716KMT2Ac.6794C>G (p.Thr2265Ser)
c.6785C>G (p.Thr2262Ser)
c.734C>G (p.Thr245Ser)
c.992C>G (p.Thr331Ser)
c.6767C>G (p.Thr2256Ser)
c.6686C>G (p.Thr2229Ser)
n.6037C>G
c.6695C>G (p.Thr2232Ser)
c.6572C>G (p.Thr2191Ser)
n.822C>G
c.4178C>G (p.Thr1393Ser)
c.6791C>G (p.Thr2264Ser)
c.4601C>G (p.Thr1534Ser)
c.4277C>G (p.Thr1426Ser)
11g.118502587C>TCA382802714KMT2Ac.6794C>T (p.Thr2265Ile)
c.6785C>T (p.Thr2262Ile)
c.734C>T (p.Thr245Ile)
c.992C>T (p.Thr331Ile)
c.6767C>T (p.Thr2256Ile)
c.6686C>T (p.Thr2229Ile)
n.6037C>T
c.6695C>T (p.Thr2232Ile)
c.6572C>T (p.Thr2191Ile)
n.822C>T
c.4178C>T (p.Thr1393Ile)
c.6791C>T (p.Thr2264Ile)
c.4601C>T (p.Thr1534Ile)
c.4277C>T (p.Thr1426Ile)
11g.118502588C>ACA477093543KMT2Ac.6795C>A (p.Thr2265=)
c.6786C>A (p.Thr2262=)
c.735C>A (p.Thr245=)
c.993C>A (p.Thr331=)
c.6768C>A (p.Thr2256=)
c.6687C>A (p.Thr2229=)
n.6038C>A
c.6696C>A (p.Thr2232=)
c.6573C>A (p.Thr2191=)
n.823C>A
c.4179C>A (p.Thr1393=)
c.6792C>A (p.Thr2264=)
c.4602C>A (p.Thr1534=)
c.4278C>A (p.Thr1426=)
11g.118502588C=CA2003526469KMT2Ac.6795C= (p.Thr2265=)
c.6786C= (p.Thr2262=)
c.735C= (p.Thr245=)
c.993C= (p.Thr331=)
c.6768C= (p.Thr2256=)
c.6687C= (p.Thr2229=)
n.6038C=
c.6696C= (p.Thr2232=)
c.6573C= (p.Thr2191=)
n.823C=
c.4179C= (p.Thr1393=)
c.6792C= (p.Thr2264=)
c.4602C= (p.Thr1534=)
c.4278C= (p.Thr1426=)
11g.118502588C>GCA6304298KMT2Ac.6795C>G (p.Thr2265=)
c.6786C>G (p.Thr2262=)
c.735C>G (p.Thr245=)
c.993C>G (p.Thr331=)
c.6768C>G (p.Thr2256=)
c.6687C>G (p.Thr2229=)
n.6038C>G
c.6696C>G (p.Thr2232=)
c.6573C>G (p.Thr2191=)
n.823C>G
c.4179C>G (p.Thr1393=)
c.6792C>G (p.Thr2264=)
c.4602C>G (p.Thr1534=)
c.4278C>G (p.Thr1426=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502588C>TCA477093544KMT2Ac.6795C>T (p.Thr2265=)
c.6786C>T (p.Thr2262=)
c.735C>T (p.Thr245=)
c.993C>T (p.Thr331=)
c.6768C>T (p.Thr2256=)
c.6687C>T (p.Thr2229=)
n.6038C>T
c.6696C>T (p.Thr2232=)
c.6573C>T (p.Thr2191=)
n.823C>T
c.4179C>T (p.Thr1393=)
c.6792C>T (p.Thr2264=)
c.4602C>T (p.Thr1534=)
c.4278C>T (p.Thr1426=)
gnomAD v4
11g.118502589A>CCA382802719KMT2Ac.6796A>C (p.Thr2266Pro)
c.6787A>C (p.Thr2263Pro)
c.736A>C (p.Thr246Pro)
c.994A>C (p.Thr332Pro)
c.6769A>C (p.Thr2257Pro)
c.6688A>C (p.Thr2230Pro)
n.6039A>C
c.6697A>C (p.Thr2233Pro)
c.6574A>C (p.Thr2192Pro)
n.824A>C
c.4180A>C (p.Thr1394Pro)
c.6793A>C (p.Thr2265Pro)
c.4603A>C (p.Thr1535Pro)
c.4279A>C (p.Thr1427Pro)
11g.118502589A>GCA382802721KMT2Ac.6796A>G (p.Thr2266Ala)
c.6787A>G (p.Thr2263Ala)
c.736A>G (p.Thr246Ala)
c.994A>G (p.Thr332Ala)
c.6769A>G (p.Thr2257Ala)
c.6688A>G (p.Thr2230Ala)
n.6039A>G
c.6697A>G (p.Thr2233Ala)
c.6574A>G (p.Thr2192Ala)
n.824A>G
c.4180A>G (p.Thr1394Ala)
c.6793A>G (p.Thr2265Ala)
c.4603A>G (p.Thr1535Ala)
c.4279A>G (p.Thr1427Ala)
11g.118502589A>TCA382802723KMT2Ac.6796A>T (p.Thr2266Ser)
c.6787A>T (p.Thr2263Ser)
c.736A>T (p.Thr246Ser)
c.994A>T (p.Thr332Ser)
c.6769A>T (p.Thr2257Ser)
c.6688A>T (p.Thr2230Ser)
n.6039A>T
c.6697A>T (p.Thr2233Ser)
c.6574A>T (p.Thr2192Ser)
n.824A>T
c.4180A>T (p.Thr1394Ser)
c.6793A>T (p.Thr2265Ser)
c.4603A>T (p.Thr1535Ser)
c.4279A>T (p.Thr1427Ser)
11g.118502590C>ACA382802727KMT2Ac.6797C>A (p.Thr2266Asn)
c.6788C>A (p.Thr2263Asn)
c.737C>A (p.Thr246Asn)
c.995C>A (p.Thr332Asn)
c.6770C>A (p.Thr2257Asn)
c.6689C>A (p.Thr2230Asn)
n.6040C>A
c.6698C>A (p.Thr2233Asn)
c.6575C>A (p.Thr2192Asn)
n.825C>A
c.4181C>A (p.Thr1394Asn)
c.6794C>A (p.Thr2265Asn)
c.4604C>A (p.Thr1535Asn)
c.4280C>A (p.Thr1427Asn)
11g.118502590C=CA2003526480KMT2Ac.6797C= (p.Thr2266=)
c.6788C= (p.Thr2263=)
c.737C= (p.Thr246=)
c.995C= (p.Thr332=)
c.6770C= (p.Thr2257=)
c.6689C= (p.Thr2230=)
n.6040C=
c.6698C= (p.Thr2233=)
c.6575C= (p.Thr2192=)
n.825C=
c.4181C= (p.Thr1394=)
c.6794C= (p.Thr2265=)
c.4604C= (p.Thr1535=)
c.4280C= (p.Thr1427=)
11g.118502590C>GCA382802729KMT2Ac.6797C>G (p.Thr2266Ser)
c.6788C>G (p.Thr2263Ser)
c.737C>G (p.Thr246Ser)
c.995C>G (p.Thr332Ser)
c.6770C>G (p.Thr2257Ser)
c.6689C>G (p.Thr2230Ser)
n.6040C>G
c.6698C>G (p.Thr2233Ser)
c.6575C>G (p.Thr2192Ser)
n.825C>G
c.4181C>G (p.Thr1394Ser)
c.6794C>G (p.Thr2265Ser)
c.4604C>G (p.Thr1535Ser)
c.4280C>G (p.Thr1427Ser)
dbSNP gnomAD v4
11g.118502590C>TCA6304299KMT2Ac.6797C>T (p.Thr2266Ile)
c.6788C>T (p.Thr2263Ile)
c.737C>T (p.Thr246Ile)
c.995C>T (p.Thr332Ile)
c.6770C>T (p.Thr2257Ile)
c.6689C>T (p.Thr2230Ile)
n.6040C>T
c.6698C>T (p.Thr2233Ile)
c.6575C>T (p.Thr2192Ile)
n.825C>T
c.4181C>T (p.Thr1394Ile)
c.6794C>T (p.Thr2265Ile)
c.4604C>T (p.Thr1535Ile)
c.4280C>T (p.Thr1427Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502590_118502591delinsCCCA2003526479KMT2Ac.6797_6798delinsCC (p.Thr2266=)
c.6788_6789delinsCC (p.Thr2263=)
c.737_738delinsCC (p.Thr246=)
c.995_996delinsCC (p.Thr332=)
c.6770_6771delinsCC (p.Thr2257=)
c.6689_6690delinsCC (p.Thr2230=)
n.6040_6041delinsCC
c.6698_6699delinsCC (p.Thr2233=)
c.6575_6576delinsCC (p.Thr2192=)
n.825_826delinsCC
c.4181_4182delinsCC (p.Thr1394=)
c.6794_6795delinsCC (p.Thr2265=)
c.4604_4605delinsCC (p.Thr1535=)
c.4280_4281delinsCC (p.Thr1427=)
11g.118502590_118502591delinsTTCA918978444KMT2Ac.6797_6798delinsTT (p.Thr2266Ile)
c.6788_6789delinsTT (p.Thr2263Ile)
c.737_738delinsTT (p.Thr246Ile)
c.995_996delinsTT (p.Thr332Ile)
c.6770_6771delinsTT (p.Thr2257Ile)
c.6689_6690delinsTT (p.Thr2230Ile)
n.6040_6041delinsTT
c.6698_6699delinsTT (p.Thr2233Ile)
c.6575_6576delinsTT (p.Thr2192Ile)
n.825_826delinsTT
c.4181_4182delinsTT (p.Thr1394Ile)
c.6794_6795delinsTT (p.Thr2265Ile)
c.4604_4605delinsTT (p.Thr1535Ile)
c.4280_4281delinsTT (p.Thr1427Ile)
ClinVar dbSNP
11g.118502590_118502592delinsTTCA229526286KMT2Ac.6797_6799delinsTT (p.Thr2266IlefsTer13)
c.6788_6790delinsTT (p.Thr2263IlefsTer13)
c.737_739delinsTT (p.Thr246IlefsTer13)
c.995_997delinsTT (p.Thr332IlefsTer13)
c.6770_6772delinsTT (p.Thr2257IlefsTer13)
c.6689_6691delinsTT (p.Thr2230IlefsTer13)
n.6040_6042delinsTT
c.6698_6700delinsTT (p.Thr2233IlefsTer13)
c.6575_6577delinsTT (p.Thr2192IlefsTer13)
n.825_827delinsTT
c.4181_4183delinsTT (p.Thr1394IlefsTer13)
c.6794_6796delinsTT (p.Thr2265IlefsTer13)
c.4604_4606delinsTT (p.Thr1535IlefsTer13)
c.4280_4282delinsTT (p.Thr1427IlefsTer13)
11g.118502591C>ACA477093545KMT2Ac.6798C>A (p.Thr2266=)
c.6789C>A (p.Thr2263=)
c.738C>A (p.Thr246=)
c.996C>A (p.Thr332=)
c.6771C>A (p.Thr2257=)
c.6690C>A (p.Thr2230=)
n.6041C>A
c.6699C>A (p.Thr2233=)
c.6576C>A (p.Thr2192=)
n.826C>A
c.4182C>A (p.Thr1394=)
c.6795C>A (p.Thr2265=)
c.4605C>A (p.Thr1535=)
c.4281C>A (p.Thr1427=)
11g.118502591C=CA2003526485KMT2Ac.6798C= (p.Thr2266=)
c.6789C= (p.Thr2263=)
c.738C= (p.Thr246=)
c.996C= (p.Thr332=)
c.6771C= (p.Thr2257=)
c.6690C= (p.Thr2230=)
n.6041C=
c.6699C= (p.Thr2233=)
c.6576C= (p.Thr2192=)
n.826C=
c.4182C= (p.Thr1394=)
c.6795C= (p.Thr2265=)
c.4605C= (p.Thr1535=)
c.4281C= (p.Thr1427=)
11g.118502591C>GCA477093546KMT2Ac.6798C>G (p.Thr2266=)
c.6789C>G (p.Thr2263=)
c.738C>G (p.Thr246=)
c.996C>G (p.Thr332=)
c.6771C>G (p.Thr2257=)
c.6690C>G (p.Thr2230=)
n.6041C>G
c.6699C>G (p.Thr2233=)
c.6576C>G (p.Thr2192=)
n.826C>G
c.4182C>G (p.Thr1394=)
c.6795C>G (p.Thr2265=)
c.4605C>G (p.Thr1535=)
c.4281C>G (p.Thr1427=)
11g.118502591C>TCA6304300KMT2Ac.6798C>T (p.Thr2266=)
c.6789C>T (p.Thr2263=)
c.738C>T (p.Thr246=)
c.996C>T (p.Thr332=)
c.6771C>T (p.Thr2257=)
c.6690C>T (p.Thr2230=)
n.6041C>T
c.6699C>T (p.Thr2233=)
c.6576C>T (p.Thr2192=)
n.826C>T
c.4182C>T (p.Thr1394=)
c.6795C>T (p.Thr2265=)
c.4605C>T (p.Thr1535=)
c.4281C>T (p.Thr1427=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502592G>ACA6304301KMT2Ac.6799G>A (p.Gly2267Arg)
c.6790G>A (p.Gly2264Arg)
c.739G>A (p.Gly247Arg)
c.997G>A (p.Gly333Arg)
c.6772G>A (p.Gly2258Arg)
c.6691G>A (p.Gly2231Arg)
n.6042G>A
c.6700G>A (p.Gly2234Arg)
c.6577G>A (p.Gly2193Arg)
n.827G>A
c.4183G>A (p.Gly1395Arg)
c.6796G>A (p.Gly2266Arg)
c.4606G>A (p.Gly1536Arg)
c.4282G>A (p.Gly1428Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.118502592G>CCA382802733KMT2Ac.6799G>C (p.Gly2267Arg)
c.6790G>C (p.Gly2264Arg)
c.739G>C (p.Gly247Arg)
c.997G>C (p.Gly333Arg)
c.6772G>C (p.Gly2258Arg)
c.6691G>C (p.Gly2231Arg)
n.6042G>C
c.6700G>C (p.Gly2234Arg)
c.6577G>C (p.Gly2193Arg)
n.827G>C
c.4183G>C (p.Gly1395Arg)
c.6796G>C (p.Gly2266Arg)
c.4606G>C (p.Gly1536Arg)
c.4282G>C (p.Gly1428Arg)
11g.118502592G=CA2003526493KMT2Ac.6799G= (p.Gly2267=)
c.6790G= (p.Gly2264=)
c.739G= (p.Gly247=)
c.997G= (p.Gly333=)
c.6772G= (p.Gly2258=)
c.6691G= (p.Gly2231=)
n.6042G=
c.6700G= (p.Gly2234=)
c.6577G= (p.Gly2193=)
n.827G=
c.4183G= (p.Gly1395=)
c.6796G= (p.Gly2266=)
c.4606G= (p.Gly1536=)
c.4282G= (p.Gly1428=)
11g.118502592G>TCA382802735KMT2Ac.6799G>T (p.Gly2267Trp)
c.6790G>T (p.Gly2264Trp)
c.739G>T (p.Gly247Trp)
c.997G>T (p.Gly333Trp)
c.6772G>T (p.Gly2258Trp)
c.6691G>T (p.Gly2231Trp)
n.6042G>T
c.6700G>T (p.Gly2234Trp)
c.6577G>T (p.Gly2193Trp)
n.827G>T
c.4183G>T (p.Gly1395Trp)
c.6796G>T (p.Gly2266Trp)
c.4606G>T (p.Gly1536Trp)
c.4282G>T (p.Gly1428Trp)
11g.118502594delCA229526293KMT2Ac.6801del (p.Thr2268ProfsTer11)
c.6792del (p.Thr2265ProfsTer11)
c.741del (p.Thr248ProfsTer11)
c.999del (p.Thr334ProfsTer11)
c.6774del (p.Thr2259ProfsTer11)
c.6693del (p.Thr2232ProfsTer11)
n.6044del
c.6702del (p.Thr2235ProfsTer11)
c.6579del (p.Thr2194ProfsTer11)
n.829del
c.4185del (p.Thr1396ProfsTer11)
c.6798del (p.Thr2267ProfsTer11)
c.4608del (p.Thr1537ProfsTer11)
c.4284del (p.Thr1429ProfsTer11)
11g.118502593G>ACA382802736KMT2Ac.6800G>A (p.Gly2267Glu)
c.6791G>A (p.Gly2264Glu)
c.740G>A (p.Gly247Glu)
c.998G>A (p.Gly333Glu)
c.6773G>A (p.Gly2258Glu)
c.6692G>A (p.Gly2231Glu)
n.6043G>A
c.6701G>A (p.Gly2234Glu)
c.6578G>A (p.Gly2193Glu)
n.828G>A
c.4184G>A (p.Gly1395Glu)
c.6797G>A (p.Gly2266Glu)
c.4607G>A (p.Gly1536Glu)
c.4283G>A (p.Gly1428Glu)
11g.118502593G>CCA382802738KMT2Ac.6800G>C (p.Gly2267Ala)
c.6791G>C (p.Gly2264Ala)
c.740G>C (p.Gly247Ala)
c.998G>C (p.Gly333Ala)
c.6773G>C (p.Gly2258Ala)
c.6692G>C (p.Gly2231Ala)
n.6043G>C
c.6701G>C (p.Gly2234Ala)
c.6578G>C (p.Gly2193Ala)
n.828G>C
c.4184G>C (p.Gly1395Ala)
c.6797G>C (p.Gly2266Ala)
c.4607G>C (p.Gly1536Ala)
c.4283G>C (p.Gly1428Ala)
dbSNP
11g.118502593G>TCA382802740KMT2Ac.6800G>T (p.Gly2267Val)
c.6791G>T (p.Gly2264Val)
c.740G>T (p.Gly247Val)
c.998G>T (p.Gly333Val)
c.6773G>T (p.Gly2258Val)
c.6692G>T (p.Gly2231Val)
n.6043G>T
c.6701G>T (p.Gly2234Val)
c.6578G>T (p.Gly2193Val)
n.828G>T
c.4184G>T (p.Gly1395Val)
c.6797G>T (p.Gly2266Val)
c.4607G>T (p.Gly1536Val)
c.4283G>T (p.Gly1428Val)
dbSNP
11g.118502594G>ACA477093547KMT2Ac.6801G>A (p.Gly2267=)
c.6792G>A (p.Gly2264=)
c.741G>A (p.Gly247=)
c.999G>A (p.Gly333=)
c.6774G>A (p.Gly2258=)
c.6693G>A (p.Gly2231=)
n.6044G>A
c.6702G>A (p.Gly2234=)
c.6579G>A (p.Gly2193=)
n.829G>A
c.4185G>A (p.Gly1395=)
c.6798G>A (p.Gly2266=)
c.4608G>A (p.Gly1536=)
c.4284G>A (p.Gly1428=)
11g.118502594G>CCA477093548KMT2Ac.6801G>C (p.Gly2267=)
c.6792G>C (p.Gly2264=)
c.741G>C (p.Gly247=)
c.999G>C (p.Gly333=)
c.6774G>C (p.Gly2258=)
c.6693G>C (p.Gly2231=)
n.6044G>C
c.6702G>C (p.Gly2234=)
c.6579G>C (p.Gly2193=)
n.829G>C
c.4185G>C (p.Gly1395=)
c.6798G>C (p.Gly2266=)
c.4608G>C (p.Gly1536=)
c.4284G>C (p.Gly1428=)
gnomAD v4
11g.118502594G>TCA477093550KMT2Ac.6801G>T (p.Gly2267=)
c.6792G>T (p.Gly2264=)
c.741G>T (p.Gly247=)
c.999G>T (p.Gly333=)
c.6774G>T (p.Gly2258=)
c.6693G>T (p.Gly2231=)
n.6044G>T
c.6702G>T (p.Gly2234=)
c.6579G>T (p.Gly2193=)
n.829G>T
c.4185G>T (p.Gly1395=)
c.6798G>T (p.Gly2266=)
c.4608G>T (p.Gly1536=)
c.4284G>T (p.Gly1428=)
11g.118502595A>CCA382802742KMT2Ac.6802A>C (p.Thr2268Pro)
c.6793A>C (p.Thr2265Pro)
c.742A>C (p.Thr248Pro)
c.1000A>C (p.Thr334Pro)
c.6775A>C (p.Thr2259Pro)
c.6694A>C (p.Thr2232Pro)
n.6045A>C
c.6703A>C (p.Thr2235Pro)
c.6580A>C (p.Thr2194Pro)
n.830A>C
c.4186A>C (p.Thr1396Pro)
c.6799A>C (p.Thr2267Pro)
c.4609A>C (p.Thr1537Pro)
c.4285A>C (p.Thr1429Pro)
11g.118502595A>GCA382802744KMT2Ac.6802A>G (p.Thr2268Ala)
c.6793A>G (p.Thr2265Ala)
c.742A>G (p.Thr248Ala)
c.1000A>G (p.Thr334Ala)
c.6775A>G (p.Thr2259Ala)
c.6694A>G (p.Thr2232Ala)
n.6045A>G
c.6703A>G (p.Thr2235Ala)
c.6580A>G (p.Thr2194Ala)
n.830A>G
c.4186A>G (p.Thr1396Ala)
c.6799A>G (p.Thr2267Ala)
c.4609A>G (p.Thr1537Ala)
c.4285A>G (p.Thr1429Ala)
11g.118502595A>TCA382802743KMT2Ac.6802A>T (p.Thr2268Ser)
c.6793A>T (p.Thr2265Ser)
c.742A>T (p.Thr248Ser)
c.1000A>T (p.Thr334Ser)
c.6775A>T (p.Thr2259Ser)
c.6694A>T (p.Thr2232Ser)
n.6045A>T
c.6703A>T (p.Thr2235Ser)
c.6580A>T (p.Thr2194Ser)
n.830A>T
c.4186A>T (p.Thr1396Ser)
c.6799A>T (p.Thr2267Ser)
c.4609A>T (p.Thr1537Ser)
c.4285A>T (p.Thr1429Ser)
dbSNP
11g.118502596C>ACA382802746KMT2Ac.6803C>A (p.Thr2268Asn)
c.6794C>A (p.Thr2265Asn)
c.743C>A (p.Thr248Asn)
c.1001C>A (p.Thr334Asn)
c.6776C>A (p.Thr2259Asn)
c.6695C>A (p.Thr2232Asn)
n.6046C>A
c.6704C>A (p.Thr2235Asn)
c.6581C>A (p.Thr2194Asn)
n.831C>A
c.4187C>A (p.Thr1396Asn)
c.6800C>A (p.Thr2267Asn)
c.4610C>A (p.Thr1537Asn)
c.4286C>A (p.Thr1429Asn)
11g.118502596C=CA2003526501KMT2Ac.6803C= (p.Thr2268=)
c.6794C= (p.Thr2265=)
c.743C= (p.Thr248=)
c.1001C= (p.Thr334=)
c.6776C= (p.Thr2259=)
c.6695C= (p.Thr2232=)
n.6046C=
c.6704C= (p.Thr2235=)
c.6581C= (p.Thr2194=)
n.831C=
c.4187C= (p.Thr1396=)
c.6800C= (p.Thr2267=)
c.4610C= (p.Thr1537=)
c.4286C= (p.Thr1429=)
11g.118502596C>GCA382802748KMT2Ac.6803C>G (p.Thr2268Ser)
c.6794C>G (p.Thr2265Ser)
c.743C>G (p.Thr248Ser)
c.1001C>G (p.Thr334Ser)
c.6776C>G (p.Thr2259Ser)
c.6695C>G (p.Thr2232Ser)
n.6046C>G
c.6704C>G (p.Thr2235Ser)
c.6581C>G (p.Thr2194Ser)
n.831C>G
c.4187C>G (p.Thr1396Ser)
c.6800C>G (p.Thr2267Ser)
c.4610C>G (p.Thr1537Ser)
c.4286C>G (p.Thr1429Ser)
11g.118502596C>TCA229526299KMT2Ac.6803C>T (p.Thr2268Ile)
c.6794C>T (p.Thr2265Ile)
c.743C>T (p.Thr248Ile)
c.1001C>T (p.Thr334Ile)
c.6776C>T (p.Thr2259Ile)
c.6695C>T (p.Thr2232Ile)
n.6046C>T
c.6704C>T (p.Thr2235Ile)
c.6581C>T (p.Thr2194Ile)
n.831C>T
c.4187C>T (p.Thr1396Ile)
c.6800C>T (p.Thr2267Ile)
c.4610C>T (p.Thr1537Ile)
c.4286C>T (p.Thr1429Ile)
dbSNP gnomAD v3 gnomAD v4
11g.118502597C>ACA477093551KMT2Ac.6804C>A (p.Thr2268=)
c.6795C>A (p.Thr2265=)
c.744C>A (p.Thr248=)
c.1002C>A (p.Thr334=)
c.6777C>A (p.Thr2259=)
c.6696C>A (p.Thr2232=)
n.6047C>A
c.6705C>A (p.Thr2235=)
c.6582C>A (p.Thr2194=)
n.832C>A
c.4188C>A (p.Thr1396=)
c.6801C>A (p.Thr2267=)
c.4611C>A (p.Thr1537=)
c.4287C>A (p.Thr1429=)
11g.118502597C=CA2003526506KMT2Ac.6804C= (p.Thr2268=)
c.6795C= (p.Thr2265=)
c.744C= (p.Thr248=)
c.1002C= (p.Thr334=)
c.6777C= (p.Thr2259=)
c.6696C= (p.Thr2232=)
n.6047C=
c.6705C= (p.Thr2235=)
c.6582C= (p.Thr2194=)
n.832C=
c.4188C= (p.Thr1396=)
c.6801C= (p.Thr2267=)
c.4611C= (p.Thr1537=)
c.4287C= (p.Thr1429=)
11g.118502597C>GCA477093552KMT2Ac.6804C>G (p.Thr2268=)
c.6795C>G (p.Thr2265=)
c.744C>G (p.Thr248=)
c.1002C>G (p.Thr334=)
c.6777C>G (p.Thr2259=)
c.6696C>G (p.Thr2232=)
n.6047C>G
c.6705C>G (p.Thr2235=)
c.6582C>G (p.Thr2194=)
n.832C>G
c.4188C>G (p.Thr1396=)
c.6801C>G (p.Thr2267=)
c.4611C>G (p.Thr1537=)
c.4287C>G (p.Thr1429=)
11g.118502597C>TCA6304302KMT2Ac.6804C>T (p.Thr2268=)
c.6795C>T (p.Thr2265=)
c.744C>T (p.Thr248=)
c.1002C>T (p.Thr334=)
c.6777C>T (p.Thr2259=)
c.6696C>T (p.Thr2232=)
n.6047C>T
c.6705C>T (p.Thr2235=)
c.6582C>T (p.Thr2194=)
n.832C>T
c.4188C>T (p.Thr1396=)
c.6801C>T (p.Thr2267=)
c.4611C>T (p.Thr1537=)
c.4287C>T (p.Thr1429=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.118502598G>ACA382802751KMT2Ac.6805G>A (p.Ala2269Thr)
c.6796G>A (p.Ala2266Thr)
c.745G>A (p.Ala249Thr)
c.1003G>A (p.Ala335Thr)
c.6778G>A (p.Ala2260Thr)
c.6697G>A (p.Ala2233Thr)
n.6048G>A
c.6706G>A (p.Ala2236Thr)
c.6583G>A (p.Ala2195Thr)
n.833G>A
c.4189G>A (p.Ala1397Thr)
c.6802G>A (p.Ala2268Thr)
c.4612G>A (p.Ala1538Thr)
c.4288G>A (p.Ala1430Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118502598G>CCA382802752KMT2Ac.6805G>C (p.Ala2269Pro)
c.6796G>C (p.Ala2266Pro)
c.745G>C (p.Ala249Pro)
c.1003G>C (p.Ala335Pro)
c.6778G>C (p.Ala2260Pro)
c.6697G>C (p.Ala2233Pro)
n.6048G>C
c.6706G>C (p.Ala2236Pro)
c.6583G>C (p.Ala2195Pro)
n.833G>C
c.4189G>C (p.Ala1397Pro)
c.6802G>C (p.Ala2268Pro)
c.4612G>C (p.Ala1538Pro)
c.4288G>C (p.Ala1430Pro)
11g.118502598G=CA2003526515KMT2Ac.6805G= (p.Ala2269=)
c.6796G= (p.Ala2266=)
c.745G= (p.Ala249=)
c.1003G= (p.Ala335=)
c.6778G= (p.Ala2260=)
c.6697G= (p.Ala2233=)
n.6048G=
c.6706G= (p.Ala2236=)
c.6583G= (p.Ala2195=)
n.833G=
c.4189G= (p.Ala1397=)
c.6802G= (p.Ala2268=)
c.4612G= (p.Ala1538=)
c.4288G= (p.Ala1430=)
11g.118502598G>TCA382802754KMT2Ac.6805G>T (p.Ala2269Ser)
c.6796G>T (p.Ala2266Ser)
c.745G>T (p.Ala249Ser)
c.1003G>T (p.Ala335Ser)
c.6778G>T (p.Ala2260Ser)
c.6697G>T (p.Ala2233Ser)
n.6048G>T
c.6706G>T (p.Ala2236Ser)
c.6583G>T (p.Ala2195Ser)
n.833G>T
c.4189G>T (p.Ala1397Ser)
c.6802G>T (p.Ala2268Ser)
c.4612G>T (p.Ala1538Ser)
c.4288G>T (p.Ala1430Ser)
11g.118502599C>ACA382802755KMT2Ac.6806C>A (p.Ala2269Asp)
c.6797C>A (p.Ala2266Asp)
c.746C>A (p.Ala249Asp)
c.1004C>A (p.Ala335Asp)
c.6779C>A (p.Ala2260Asp)
c.6698C>A (p.Ala2233Asp)
n.6049C>A
c.6707C>A (p.Ala2236Asp)
c.6584C>A (p.Ala2195Asp)
n.834C>A
c.4190C>A (p.Ala1397Asp)
c.6803C>A (p.Ala2268Asp)
c.4613C>A (p.Ala1538Asp)
c.4289C>A (p.Ala1430Asp)
11g.118502599C>GCA382802757KMT2Ac.6806C>G (p.Ala2269Gly)
c.6797C>G (p.Ala2266Gly)
c.746C>G (p.Ala249Gly)
c.1004C>G (p.Ala335Gly)
c.6779C>G (p.Ala2260Gly)
c.6698C>G (p.Ala2233Gly)
n.6049C>G
c.6707C>G (p.Ala2236Gly)
c.6584C>G (p.Ala2195Gly)
n.834C>G
c.4190C>G (p.Ala1397Gly)
c.6803C>G (p.Ala2268Gly)
c.4613C>G (p.Ala1538Gly)
c.4289C>G (p.Ala1430Gly)
dbSNP
11g.118502599C>TCA382802758KMT2Ac.6806C>T (p.Ala2269Val)
c.6797C>T (p.Ala2266Val)
c.746C>T (p.Ala249Val)
c.1004C>T (p.Ala335Val)
c.6779C>T (p.Ala2260Val)
c.6698C>T (p.Ala2233Val)
n.6049C>T
c.6707C>T (p.Ala2236Val)
c.6584C>T (p.Ala2195Val)
n.834C>T
c.4190C>T (p.Ala1397Val)
c.6803C>T (p.Ala2268Val)
c.4613C>T (p.Ala1538Val)
c.4289C>T (p.Ala1430Val)
11g.118502600T>ACA477093553KMT2Ac.6807T>A (p.Ala2269=)
c.6798T>A (p.Ala2266=)
c.747T>A (p.Ala249=)
c.1005T>A (p.Ala335=)
c.6780T>A (p.Ala2260=)
c.6699T>A (p.Ala2233=)
n.6050T>A
c.6708T>A (p.Ala2236=)
c.6585T>A (p.Ala2195=)
n.835T>A
c.4191T>A (p.Ala1397=)
c.6804T>A (p.Ala2268=)
c.4614T>A (p.Ala1538=)
c.4290T>A (p.Ala1430=)
11g.118502600T>CCA477093554KMT2Ac.6807T>C (p.Ala2269=)
c.6798T>C (p.Ala2266=)
c.747T>C (p.Ala249=)
c.1005T>C (p.Ala335=)
c.6780T>C (p.Ala2260=)
c.6699T>C (p.Ala2233=)
n.6050T>C
c.6708T>C (p.Ala2236=)
c.6585T>C (p.Ala2195=)
n.835T>C
c.4191T>C (p.Ala1397=)
c.6804T>C (p.Ala2268=)
c.4614T>C (p.Ala1538=)
c.4290T>C (p.Ala1430=)
gnomAD v4
11g.118502600T>GCA477093555KMT2Ac.6807T>G (p.Ala2269=)
c.6798T>G (p.Ala2266=)
c.747T>G (p.Ala249=)
c.1005T>G (p.Ala335=)
c.6780T>G (p.Ala2260=)
c.6699T>G (p.Ala2233=)
n.6050T>G
c.6708T>G (p.Ala2236=)
c.6585T>G (p.Ala2195=)
n.835T>G
c.4191T>G (p.Ala1397=)
c.6804T>G (p.Ala2268=)
c.4614T>G (p.Ala1538=)
c.4290T>G (p.Ala1430=)
11g.118502601A=CA2003526518KMT2Ac.6808A= (p.Thr2270=)
c.6799A= (p.Thr2267=)
c.748A= (p.Thr250=)
c.1006A= (p.Thr336=)
c.6781A= (p.Thr2261=)
c.6700A= (p.Thr2234=)
n.6051A=
c.6709A= (p.Thr2237=)
c.6586A= (p.Thr2196=)
n.836A=
c.4192A= (p.Thr1398=)
c.6805A= (p.Thr2269=)
c.4615A= (p.Thr1539=)
c.4291A= (p.Thr1431=)
11g.118502601A>CCA382802759KMT2Ac.6808A>C (p.Thr2270Pro)
c.6799A>C (p.Thr2267Pro)
c.748A>C (p.Thr250Pro)
c.1006A>C (p.Thr336Pro)
c.6781A>C (p.Thr2261Pro)
c.6700A>C (p.Thr2234Pro)
n.6051A>C
c.6709A>C (p.Thr2237Pro)
c.6586A>C (p.Thr2196Pro)
n.836A>C
c.4192A>C (p.Thr1398Pro)
c.6805A>C (p.Thr2269Pro)
c.4615A>C (p.Thr1539Pro)
c.4291A>C (p.Thr1431Pro)
11g.118502601A>GCA382802760KMT2Ac.6808A>G (p.Thr2270Ala)
c.6799A>G (p.Thr2267Ala)
c.748A>G (p.Thr250Ala)
c.1006A>G (p.Thr336Ala)
c.6781A>G (p.Thr2261Ala)
c.6700A>G (p.Thr2234Ala)
n.6051A>G
c.6709A>G (p.Thr2237Ala)
c.6586A>G (p.Thr2196Ala)
n.836A>G
c.4192A>G (p.Thr1398Ala)
c.6805A>G (p.Thr2269Ala)
c.4615A>G (p.Thr1539Ala)
c.4291A>G (p.Thr1431Ala)
ClinVar dbSNP gnomAD v4
11g.118502601A>TCA382802762KMT2Ac.6808A>T (p.Thr2270Ser)
c.6799A>T (p.Thr2267Ser)
c.748A>T (p.Thr250Ser)
c.1006A>T (p.Thr336Ser)
c.6781A>T (p.Thr2261Ser)
c.6700A>T (p.Thr2234Ser)
n.6051A>T
c.6709A>T (p.Thr2237Ser)
c.6586A>T (p.Thr2196Ser)
n.836A>T
c.4192A>T (p.Thr1398Ser)
c.6805A>T (p.Thr2269Ser)
c.4615A>T (p.Thr1539Ser)
c.4291A>T (p.Thr1431Ser)
11g.118502602C>ACA382802766KMT2Ac.6809C>A (p.Thr2270Asn)
c.6800C>A (p.Thr2267Asn)
c.749C>A (p.Thr250Asn)
c.1007C>A (p.Thr336Asn)
c.6782C>A (p.Thr2261Asn)
c.6701C>A (p.Thr2234Asn)
n.6052C>A
c.6710C>A (p.Thr2237Asn)
c.6587C>A (p.Thr2196Asn)
n.837C>A
c.4193C>A (p.Thr1398Asn)
c.6806C>A (p.Thr2269Asn)
c.4616C>A (p.Thr1539Asn)
c.4292C>A (p.Thr1431Asn)
11g.118502602C>GCA382802767KMT2Ac.6809C>G (p.Thr2270Ser)
c.6800C>G (p.Thr2267Ser)
c.749C>G (p.Thr250Ser)
c.1007C>G (p.Thr336Ser)
c.6782C>G (p.Thr2261Ser)
c.6701C>G (p.Thr2234Ser)
n.6052C>G
c.6710C>G (p.Thr2237Ser)
c.6587C>G (p.Thr2196Ser)
n.837C>G
c.4193C>G (p.Thr1398Ser)
c.6806C>G (p.Thr2269Ser)
c.4616C>G (p.Thr1539Ser)
c.4292C>G (p.Thr1431Ser)
11g.118502602C>TCA382802765KMT2Ac.6809C>T (p.Thr2270Ile)
c.6800C>T (p.Thr2267Ile)
c.749C>T (p.Thr250Ile)
c.1007C>T (p.Thr336Ile)
c.6782C>T (p.Thr2261Ile)
c.6701C>T (p.Thr2234Ile)
n.6052C>T
c.6710C>T (p.Thr2237Ile)
c.6587C>T (p.Thr2196Ile)
n.837C>T
c.4193C>T (p.Thr1398Ile)
c.6806C>T (p.Thr2269Ile)
c.4616C>T (p.Thr1539Ile)
c.4292C>T (p.Thr1431Ile)
gnomAD v4
11g.118502603T>ACA477093557KMT2Ac.6810T>A (p.Thr2270=)
c.6801T>A (p.Thr2267=)
c.750T>A (p.Thr250=)
c.1008T>A (p.Thr336=)
c.6783T>A (p.Thr2261=)
c.6702T>A (p.Thr2234=)
n.6053T>A
c.6711T>A (p.Thr2237=)
c.6588T>A (p.Thr2196=)
n.838T>A
c.4194T>A (p.Thr1398=)
c.6807T>A (p.Thr2269=)
c.4617T>A (p.Thr1539=)
c.4293T>A (p.Thr1431=)
11g.118502603T>CCA477093558KMT2Ac.6810T>C (p.Thr2270=)
c.6801T>C (p.Thr2267=)
c.750T>C (p.Thr250=)
c.1008T>C (p.Thr336=)
c.6783T>C (p.Thr2261=)
c.6702T>C (p.Thr2234=)
n.6053T>C
c.6711T>C (p.Thr2237=)
c.6588T>C (p.Thr2196=)
n.838T>C
c.4194T>C (p.Thr1398=)
c.6807T>C (p.Thr2269=)
c.4617T>C (p.Thr1539=)
c.4293T>C (p.Thr1431=)
11g.118502603T>GCA477093559KMT2Ac.6810T>G (p.Thr2270=)
c.6801T>G (p.Thr2267=)
c.750T>G (p.Thr250=)
c.1008T>G (p.Thr336=)
c.6783T>G (p.Thr2261=)
c.6702T>G (p.Thr2234=)
n.6053T>G
c.6711T>G (p.Thr2237=)
c.6588T>G (p.Thr2196=)
n.838T>G
c.4194T>G (p.Thr1398=)
c.6807T>G (p.Thr2269=)
c.4617T>G (p.Thr1539=)
c.4293T>G (p.Thr1431=)
11g.118502604G>ACA382802773KMT2Ac.6811G>A (p.Asp2271Asn)
c.6802G>A (p.Asp2268Asn)
c.751G>A (p.Asp251Asn)
c.1009G>A (p.Asp337Asn)
c.6784G>A (p.Asp2262Asn)
c.6703G>A (p.Asp2235Asn)
n.6054G>A
c.6712G>A (p.Asp2238Asn)
c.6589G>A (p.Asp2197Asn)
n.839G>A
c.4195G>A (p.Asp1399Asn)
c.6808G>A (p.Asp2270Asn)
c.4618G>A (p.Asp1540Asn)
c.4294G>A (p.Asp1432Asn)
ClinVar dbSNP gnomAD v4
11g.118502604G>CCA382802769KMT2Ac.6811G>C (p.Asp2271His)
c.6802G>C (p.Asp2268His)
c.751G>C (p.Asp251His)
c.1009G>C (p.Asp337His)
c.6784G>C (p.Asp2262His)
c.6703G>C (p.Asp2235His)
n.6054G>C
c.6712G>C (p.Asp2238His)
c.6589G>C (p.Asp2197His)
n.839G>C
c.4195G>C (p.Asp1399His)
c.6808G>C (p.Asp2270His)
c.4618G>C (p.Asp1540His)
c.4294G>C (p.Asp1432His)
11g.118502604G=CA2003526521KMT2Ac.6811G= (p.Asp2271=)
c.6802G= (p.Asp2268=)
c.751G= (p.Asp251=)
c.1009G= (p.Asp337=)
c.6784G= (p.Asp2262=)
c.6703G= (p.Asp2235=)
n.6054G=
c.6712G= (p.Asp2238=)
c.6589G= (p.Asp2197=)
n.839G=
c.4195G= (p.Asp1399=)
c.6808G= (p.Asp2270=)
c.4618G= (p.Asp1540=)
c.4294G= (p.Asp1432=)
11g.118502604G>TCA382802771KMT2Ac.6811G>T (p.Asp2271Tyr)
c.6802G>T (p.Asp2268Tyr)
c.751G>T (p.Asp251Tyr)
c.1009G>T (p.Asp337Tyr)
c.6784G>T (p.Asp2262Tyr)
c.6703G>T (p.Asp2235Tyr)
n.6054G>T
c.6712G>T (p.Asp2238Tyr)
c.6589G>T (p.Asp2197Tyr)
n.839G>T
c.4195G>T (p.Asp1399Tyr)
c.6808G>T (p.Asp2270Tyr)
c.4618G>T (p.Asp1540Tyr)
c.4294G>T (p.Asp1432Tyr)
11g.118502605A>CCA382802775KMT2Ac.6812A>C (p.Asp2271Ala)
c.6803A>C (p.Asp2268Ala)
c.752A>C (p.Asp251Ala)
c.1010A>C (p.Asp337Ala)
c.6785A>C (p.Asp2262Ala)
c.6704A>C (p.Asp2235Ala)
n.6055A>C
c.6713A>C (p.Asp2238Ala)
c.6590A>C (p.Asp2197Ala)
n.840A>C
c.4196A>C (p.Asp1399Ala)
c.6809A>C (p.Asp2270Ala)
c.4619A>C (p.Asp1540Ala)
c.4295A>C (p.Asp1432Ala)
11g.118502605A>GCA382802777KMT2Ac.6812A>G (p.Asp2271Gly)
c.6803A>G (p.Asp2268Gly)
c.752A>G (p.Asp251Gly)
c.1010A>G (p.Asp337Gly)
c.6785A>G (p.Asp2262Gly)
c.6704A>G (p.Asp2235Gly)
n.6055A>G
c.6713A>G (p.Asp2238Gly)
c.6590A>G (p.Asp2197Gly)
n.840A>G
c.4196A>G (p.Asp1399Gly)
c.6809A>G (p.Asp2270Gly)
c.4619A>G (p.Asp1540Gly)
c.4295A>G (p.Asp1432Gly)
11g.118502605A>TCA382802779KMT2Ac.6812A>T (p.Asp2271Val)
c.6803A>T (p.Asp2268Val)
c.752A>T (p.Asp251Val)
c.1010A>T (p.Asp337Val)
c.6785A>T (p.Asp2262Val)
c.6704A>T (p.Asp2235Val)
n.6055A>T
c.6713A>T (p.Asp2238Val)
c.6590A>T (p.Asp2197Val)
n.840A>T
c.4196A>T (p.Asp1399Val)
c.6809A>T (p.Asp2270Val)
c.4619A>T (p.Asp1540Val)
c.4295A>T (p.Asp1432Val)
11g.118502606T>ACA382802781KMT2Ac.6813T>A (p.Asp2271Glu)
c.6804T>A (p.Asp2268Glu)
c.753T>A (p.Asp251Glu)
c.1011T>A (p.Asp337Glu)
c.6786T>A (p.Asp2262Glu)
c.6705T>A (p.Asp2235Glu)
n.6056T>A
c.6714T>A (p.Asp2238Glu)
c.6591T>A (p.Asp2197Glu)
n.841T>A
c.4197T>A (p.Asp1399Glu)
c.6810T>A (p.Asp2270Glu)
c.4620T>A (p.Asp1540Glu)
c.4296T>A (p.Asp1432Glu)
11g.118502606T>CCA477093560KMT2Ac.6813T>C (p.Asp2271=)
c.6804T>C (p.Asp2268=)
c.753T>C (p.Asp251=)
c.1011T>C (p.Asp337=)
c.6786T>C (p.Asp2262=)
c.6705T>C (p.Asp2235=)
n.6056T>C
c.6714T>C (p.Asp2238=)
c.6591T>C (p.Asp2197=)
n.841T>C
c.4197T>C (p.Asp1399=)
c.6810T>C (p.Asp2270=)
c.4620T>C (p.Asp1540=)
c.4296T>C (p.Asp1432=)
11g.118502606T>GCA382802783KMT2Ac.6813T>G (p.Asp2271Glu)
c.6804T>G (p.Asp2268Glu)
c.753T>G (p.Asp251Glu)
c.1011T>G (p.Asp337Glu)
c.6786T>G (p.Asp2262Glu)
c.6705T>G (p.Asp2235Glu)
n.6056T>G
c.6714T>G (p.Asp2238Glu)
c.6591T>G (p.Asp2197Glu)
n.841T>G
c.4197T>G (p.Asp1399Glu)
c.6810T>G (p.Asp2270Glu)
c.4620T>G (p.Asp1540Glu)
c.4296T>G (p.Asp1432Glu)
11g.118502607C>ACA382802785KMT2Ac.6814C>A (p.Leu2272Ile)
c.6805C>A (p.Leu2269Ile)
c.754C>A (p.Leu252Ile)
c.1012C>A (p.Leu338Ile)
c.6787C>A (p.Leu2263Ile)
c.6706C>A (p.Leu2236Ile)
n.6057C>A
c.6715C>A (p.Leu2239Ile)
c.6592C>A (p.Leu2198Ile)
n.842C>A
c.4198C>A (p.Leu1400Ile)
c.6811C>A (p.Leu2271Ile)
c.4621C>A (p.Leu1541Ile)
c.4297C>A (p.Leu1433Ile)
dbSNP
11g.118502607C=CA2003526525KMT2Ac.6814C= (p.Leu2272=)
c.6805C= (p.Leu2269=)
c.754C= (p.Leu252=)
c.1012C= (p.Leu338=)
c.6787C= (p.Leu2263=)
c.6706C= (p.Leu2236=)
n.6057C=
c.6715C= (p.Leu2239=)
c.6592C= (p.Leu2198=)
n.842C=
c.4198C= (p.Leu1400=)
c.6811C= (p.Leu2271=)
c.4621C= (p.Leu1541=)
c.4297C= (p.Leu1433=)
11g.118502607C>GCA382802786KMT2Ac.6814C>G (p.Leu2272Val)
c.6805C>G (p.Leu2269Val)
c.754C>G (p.Leu252Val)
c.1012C>G (p.Leu338Val)
c.6787C>G (p.Leu2263Val)
c.6706C>G (p.Leu2236Val)
n.6057C>G
c.6715C>G (p.Leu2239Val)
c.6592C>G (p.Leu2198Val)
n.842C>G
c.4198C>G (p.Leu1400Val)
c.6811C>G (p.Leu2271Val)
c.4621C>G (p.Leu1541Val)
c.4297C>G (p.Leu1433Val)
dbSNP
11g.118502607C>TCA382802788KMT2Ac.6814C>T (p.Leu2272Phe)
c.6805C>T (p.Leu2269Phe)
c.754C>T (p.Leu252Phe)
c.1012C>T (p.Leu338Phe)
c.6787C>T (p.Leu2263Phe)
c.6706C>T (p.Leu2236Phe)
n.6057C>T
c.6715C>T (p.Leu2239Phe)
c.6592C>T (p.Leu2198Phe)
n.842C>T
c.4198C>T (p.Leu1400Phe)
c.6811C>T (p.Leu2271Phe)
c.4621C>T (p.Leu1541Phe)
c.4297C>T (p.Leu1433Phe)
11g.118502608T>ACA382802792KMT2Ac.6815T>A (p.Leu2272His)
c.6806T>A (p.Leu2269His)
c.755T>A (p.Leu252His)
c.1013T>A (p.Leu338His)
c.6788T>A (p.Leu2263His)
c.6707T>A (p.Leu2236His)
n.6058T>A
c.6716T>A (p.Leu2239His)
c.6593T>A (p.Leu2198His)
n.843T>A
c.4199T>A (p.Leu1400His)
c.6812T>A (p.Leu2271His)
c.4622T>A (p.Leu1541His)
c.4298T>A (p.Leu1433His)
11g.118502608T>CCA382802793KMT2Ac.6815T>C (p.Leu2272Pro)
c.6806T>C (p.Leu2269Pro)
c.755T>C (p.Leu252Pro)
c.1013T>C (p.Leu338Pro)
c.6788T>C (p.Leu2263Pro)
c.6707T>C (p.Leu2236Pro)
n.6058T>C
c.6716T>C (p.Leu2239Pro)
c.6593T>C (p.Leu2198Pro)
n.843T>C
c.4199T>C (p.Leu1400Pro)
c.6812T>C (p.Leu2271Pro)
c.4622T>C (p.Leu1541Pro)
c.4298T>C (p.Leu1433Pro)
11g.118502608T>GCA382802795KMT2Ac.6815T>G (p.Leu2272Arg)
c.6806T>G (p.Leu2269Arg)
c.755T>G (p.Leu252Arg)
c.1013T>G (p.Leu338Arg)
c.6788T>G (p.Leu2263Arg)
c.6707T>G (p.Leu2236Arg)
n.6058T>G
c.6716T>G (p.Leu2239Arg)
c.6593T>G (p.Leu2198Arg)
n.843T>G
c.4199T>G (p.Leu1400Arg)
c.6812T>G (p.Leu2271Arg)
c.4622T>G (p.Leu1541Arg)
c.4298T>G (p.Leu1433Arg)
gnomAD v4
11g.118502609T>ACA477093561KMT2Ac.6816T>A (p.Leu2272=)
c.6807T>A (p.Leu2269=)
c.756T>A (p.Leu252=)
c.1014T>A (p.Leu338=)
c.6789T>A (p.Leu2263=)
c.6708T>A (p.Leu2236=)
n.6059T>A
c.6717T>A (p.Leu2239=)
c.6594T>A (p.Leu2198=)
n.844T>A
c.4200T>A (p.Leu1400=)
c.6813T>A (p.Leu2271=)
c.4623T>A (p.Leu1541=)
c.4299T>A (p.Leu1433=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118502609T>CCA477093563KMT2Ac.6816T>C (p.Leu2272=)
c.6807T>C (p.Leu2269=)
c.756T>C (p.Leu252=)
c.1014T>C (p.Leu338=)
c.6789T>C (p.Leu2263=)
c.6708T>C (p.Leu2236=)
n.6059T>C
c.6717T>C (p.Leu2239=)
c.6594T>C (p.Leu2198=)
n.844T>C
c.4200T>C (p.Leu1400=)
c.6813T>C (p.Leu2271=)
c.4623T>C (p.Leu1541=)
c.4299T>C (p.Leu1433=)
11g.118502609T>GCA477093562KMT2Ac.6816T>G (p.Leu2272=)
c.6807T>G (p.Leu2269=)
c.756T>G (p.Leu252=)
c.1014T>G (p.Leu338=)
c.6789T>G (p.Leu2263=)
c.6708T>G (p.Leu2236=)
n.6059T>G
c.6717T>G (p.Leu2239=)
c.6594T>G (p.Leu2198=)
n.844T>G
c.4200T>G (p.Leu1400=)
c.6813T>G (p.Leu2271=)
c.4623T>G (p.Leu1541=)
c.4299T>G (p.Leu1433=)
11g.118502609T=CA2003526529KMT2Ac.6816T= (p.Leu2272=)
c.6807T= (p.Leu2269=)
c.756T= (p.Leu252=)
c.1014T= (p.Leu338=)
c.6789T= (p.Leu2263=)
c.6708T= (p.Leu2236=)
n.6059T=
c.6717T= (p.Leu2239=)
c.6594T= (p.Leu2198=)
n.844T=
c.4200T= (p.Leu1400=)
c.6813T= (p.Leu2271=)
c.4623T= (p.Leu1541=)
c.4299T= (p.Leu1433=)
11g.118502610G>ACA382802801KMT2Ac.6817G>A (p.Glu2273Lys)
c.6808G>A (p.Glu2270Lys)
c.757G>A (p.Glu253Lys)
c.1015G>A (p.Glu339Lys)
c.6790G>A (p.Glu2264Lys)
c.6709G>A (p.Glu2237Lys)
n.6060G>A
c.6718G>A (p.Glu2240Lys)
c.6595G>A (p.Glu2199Lys)
n.845G>A
c.4201G>A (p.Glu1401Lys)
c.6814G>A (p.Glu2272Lys)
c.4624G>A (p.Glu1542Lys)
c.4300G>A (p.Glu1434Lys)
11g.118502610G>CCA382802797KMT2Ac.6817G>C (p.Glu2273Gln)
c.6808G>C (p.Glu2270Gln)
c.757G>C (p.Glu253Gln)
c.1015G>C (p.Glu339Gln)
c.6790G>C (p.Glu2264Gln)
c.6709G>C (p.Glu2237Gln)
n.6060G>C
c.6718G>C (p.Glu2240Gln)
c.6595G>C (p.Glu2199Gln)
n.845G>C
c.4201G>C (p.Glu1401Gln)
c.6814G>C (p.Glu2272Gln)
c.4624G>C (p.Glu1542Gln)
c.4300G>C (p.Glu1434Gln)
11g.118502610G>TCA382802799KMT2Ac.6817G>T (p.Glu2273Ter)
c.6808G>T (p.Glu2270Ter)
c.757G>T (p.Glu253Ter)
c.1015G>T (p.Glu339Ter)
c.6790G>T (p.Glu2264Ter)
c.6709G>T (p.Glu2237Ter)
n.6060G>T
c.6718G>T (p.Glu2240Ter)
c.6595G>T (p.Glu2199Ter)
n.845G>T
c.4201G>T (p.Glu1401Ter)
c.6814G>T (p.Glu2272Ter)
c.4624G>T (p.Glu1542Ter)
c.4300G>T (p.Glu1434Ter)
11g.118502611A>CCA382802802KMT2Ac.6818A>C (p.Glu2273Ala)
c.6809A>C (p.Glu2270Ala)
c.758A>C (p.Glu253Ala)
c.1016A>C (p.Glu339Ala)
c.6791A>C (p.Glu2264Ala)
c.6710A>C (p.Glu2237Ala)
n.6061A>C
c.6719A>C (p.Glu2240Ala)
c.6596A>C (p.Glu2199Ala)
n.846A>C
c.4202A>C (p.Glu1401Ala)
c.6815A>C (p.Glu2272Ala)
c.4625A>C (p.Glu1542Ala)
c.4301A>C (p.Glu1434Ala)
11g.118502611A>GCA382802805KMT2Ac.6818A>G (p.Glu2273Gly)
c.6809A>G (p.Glu2270Gly)
c.758A>G (p.Glu253Gly)
c.1016A>G (p.Glu339Gly)
c.6791A>G (p.Glu2264Gly)
c.6710A>G (p.Glu2237Gly)
n.6061A>G
c.6719A>G (p.Glu2240Gly)
c.6596A>G (p.Glu2199Gly)
n.846A>G
c.4202A>G (p.Glu1401Gly)
c.6815A>G (p.Glu2272Gly)
c.4625A>G (p.Glu1542Gly)
c.4301A>G (p.Glu1434Gly)
11g.118502611A>TCA382802806KMT2Ac.6818A>T (p.Glu2273Val)
c.6809A>T (p.Glu2270Val)
c.758A>T (p.Glu253Val)
c.1016A>T (p.Glu339Val)
c.6791A>T (p.Glu2264Val)
c.6710A>T (p.Glu2237Val)
n.6061A>T
c.6719A>T (p.Glu2240Val)
c.6596A>T (p.Glu2199Val)
n.846A>T
c.4202A>T (p.Glu1401Val)
c.6815A>T (p.Glu2272Val)
c.4625A>T (p.Glu1542Val)
c.4301A>T (p.Glu1434Val)
dbSNP
11g.118502612A=CA2003526531KMT2Ac.6819A= (p.Glu2273=)
c.6810A= (p.Glu2270=)
c.759A= (p.Glu253=)
c.1017A= (p.Glu339=)
c.6792A= (p.Glu2264=)
c.6711A= (p.Glu2237=)
n.6062A=
c.6720A= (p.Glu2240=)
c.6597A= (p.Glu2199=)
n.847A=
c.4203A= (p.Glu1401=)
c.6816A= (p.Glu2272=)
c.4626A= (p.Glu1542=)
c.4302A= (p.Glu1434=)
11g.118502612A>CCA382802807KMT2Ac.6819A>C (p.Glu2273Asp)
c.6810A>C (p.Glu2270Asp)
c.759A>C (p.Glu253Asp)
c.1017A>C (p.Glu339Asp)
c.6792A>C (p.Glu2264Asp)
c.6711A>C (p.Glu2237Asp)
n.6062A>C
c.6720A>C (p.Glu2240Asp)
c.6597A>C (p.Glu2199Asp)
n.847A>C
c.4203A>C (p.Glu1401Asp)
c.6816A>C (p.Glu2272Asp)
c.4626A>C (p.Glu1542Asp)
c.4302A>C (p.Glu1434Asp)
11g.118502612A>GCA6304303KMT2Ac.6819A>G (p.Glu2273=)
c.6810A>G (p.Glu2270=)
c.759A>G (p.Glu253=)
c.1017A>G (p.Glu339=)
c.6792A>G (p.Glu2264=)
c.6711A>G (p.Glu2237=)
n.6062A>G
c.6720A>G (p.Glu2240=)
c.6597A>G (p.Glu2199=)
n.847A>G
c.4203A>G (p.Glu1401=)
c.6816A>G (p.Glu2272=)
c.4626A>G (p.Glu1542=)
c.4302A>G (p.Glu1434=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502612A>TCA382802810KMT2Ac.6819A>T (p.Glu2273Asp)
c.6810A>T (p.Glu2270Asp)
c.759A>T (p.Glu253Asp)
c.1017A>T (p.Glu339Asp)
c.6792A>T (p.Glu2264Asp)
c.6711A>T (p.Glu2237Asp)
n.6062A>T
c.6720A>T (p.Glu2240Asp)
c.6597A>T (p.Glu2199Asp)
n.847A>T
c.4203A>T (p.Glu1401Asp)
c.6816A>T (p.Glu2272Asp)
c.4626A>T (p.Glu1542Asp)
c.4302A>T (p.Glu1434Asp)
11g.118502613T>ACA382802812KMT2Ac.6820T>A (p.Ser2274Thr)
c.6811T>A (p.Ser2271Thr)
c.760T>A (p.Ser254Thr)
c.1018T>A (p.Ser340Thr)
c.6793T>A (p.Ser2265Thr)
c.6712T>A (p.Ser2238Thr)
n.6063T>A
c.6721T>A (p.Ser2241Thr)
c.6598T>A (p.Ser2200Thr)
n.848T>A
c.4204T>A (p.Ser1402Thr)
c.6817T>A (p.Ser2273Thr)
c.4627T>A (p.Ser1543Thr)
c.4303T>A (p.Ser1435Thr)
11g.118502613T>CCA382802814KMT2Ac.6820T>C (p.Ser2274Pro)
c.6811T>C (p.Ser2271Pro)
c.760T>C (p.Ser254Pro)
c.1018T>C (p.Ser340Pro)
c.6793T>C (p.Ser2265Pro)
c.6712T>C (p.Ser2238Pro)
n.6063T>C
c.6721T>C (p.Ser2241Pro)
c.6598T>C (p.Ser2200Pro)
n.848T>C
c.4204T>C (p.Ser1402Pro)
c.6817T>C (p.Ser2273Pro)
c.4627T>C (p.Ser1543Pro)
c.4303T>C (p.Ser1435Pro)
11g.118502613T>GCA382802815KMT2Ac.6820T>G (p.Ser2274Ala)
c.6811T>G (p.Ser2271Ala)
c.760T>G (p.Ser254Ala)
c.1018T>G (p.Ser340Ala)
c.6793T>G (p.Ser2265Ala)
c.6712T>G (p.Ser2238Ala)
n.6063T>G
c.6721T>G (p.Ser2241Ala)
c.6598T>G (p.Ser2200Ala)
n.848T>G
c.4204T>G (p.Ser1402Ala)
c.6817T>G (p.Ser2273Ala)
c.4627T>G (p.Ser1543Ala)
c.4303T>G (p.Ser1435Ala)
11g.118502614C>ACA382802817KMT2Ac.6821C>A (p.Ser2274Ter)
c.6812C>A (p.Ser2271Ter)
c.761C>A (p.Ser254Ter)
c.1019C>A (p.Ser340Ter)
c.6794C>A (p.Ser2265Ter)
c.6713C>A (p.Ser2238Ter)
n.6064C>A
c.6722C>A (p.Ser2241Ter)
c.6599C>A (p.Ser2200Ter)
n.849C>A
c.4205C>A (p.Ser1402Ter)
c.6818C>A (p.Ser2273Ter)
c.4628C>A (p.Ser1543Ter)
c.4304C>A (p.Ser1435Ter)
11g.118502614C>GCA382802819KMT2Ac.6821C>G (p.Ser2274Ter)
c.6812C>G (p.Ser2271Ter)
c.761C>G (p.Ser254Ter)
c.1019C>G (p.Ser340Ter)
c.6794C>G (p.Ser2265Ter)
c.6713C>G (p.Ser2238Ter)
n.6064C>G
c.6722C>G (p.Ser2241Ter)
c.6599C>G (p.Ser2200Ter)
n.849C>G
c.4205C>G (p.Ser1402Ter)
c.6818C>G (p.Ser2273Ter)
c.4628C>G (p.Ser1543Ter)
c.4304C>G (p.Ser1435Ter)
11g.118502614C>TCA382802821KMT2Ac.6821C>T (p.Ser2274Leu)
c.6812C>T (p.Ser2271Leu)
c.761C>T (p.Ser254Leu)
c.1019C>T (p.Ser340Leu)
c.6794C>T (p.Ser2265Leu)
c.6713C>T (p.Ser2238Leu)
n.6064C>T
c.6722C>T (p.Ser2241Leu)
c.6599C>T (p.Ser2200Leu)
n.849C>T
c.4205C>T (p.Ser1402Leu)
c.6818C>T (p.Ser2273Leu)
c.4628C>T (p.Ser1543Leu)
c.4304C>T (p.Ser1435Leu)
11g.118502615A>CCA477093565KMT2Ac.6822A>C (p.Ser2274=)
c.6813A>C (p.Ser2271=)
c.762A>C (p.Ser254=)
c.1020A>C (p.Ser340=)
c.6795A>C (p.Ser2265=)
c.6714A>C (p.Ser2238=)
n.6065A>C
c.6723A>C (p.Ser2241=)
c.6600A>C (p.Ser2200=)
n.850A>C
c.4206A>C (p.Ser1402=)
c.6819A>C (p.Ser2273=)
c.4629A>C (p.Ser1543=)
c.4305A>C (p.Ser1435=)
11g.118502615A>GCA477093566KMT2Ac.6822A>G (p.Ser2274=)
c.6813A>G (p.Ser2271=)
c.762A>G (p.Ser254=)
c.1020A>G (p.Ser340=)
c.6795A>G (p.Ser2265=)
c.6714A>G (p.Ser2238=)
n.6065A>G
c.6723A>G (p.Ser2241=)
c.6600A>G (p.Ser2200=)
n.850A>G
c.4206A>G (p.Ser1402=)
c.6819A>G (p.Ser2273=)
c.4629A>G (p.Ser1543=)
c.4305A>G (p.Ser1435=)
dbSNP COSMIC COSMIC
11g.118502615A>TCA477093567KMT2Ac.6822A>T (p.Ser2274=)
c.6813A>T (p.Ser2271=)
c.762A>T (p.Ser254=)
c.1020A>T (p.Ser340=)
c.6795A>T (p.Ser2265=)
c.6714A>T (p.Ser2238=)
n.6065A>T
c.6723A>T (p.Ser2241=)
c.6600A>T (p.Ser2200=)
n.850A>T
c.4206A>T (p.Ser1402=)
c.6819A>T (p.Ser2273=)
c.4629A>T (p.Ser1543=)
c.4305A>T (p.Ser1435=)
11g.118502616A=CA2003526536KMT2Ac.6823A= (p.Ser2275=)
c.6814A= (p.Ser2272=)
c.763A= (p.Ser255=)
c.1021A= (p.Ser341=)
c.6796A= (p.Ser2266=)
c.6715A= (p.Ser2239=)
n.6066A=
c.6724A= (p.Ser2242=)
c.6601A= (p.Ser2201=)
n.851A=
c.4207A= (p.Ser1403=)
c.6820A= (p.Ser2274=)
c.4630A= (p.Ser1544=)
c.4306A= (p.Ser1436=)
11g.118502616A>CCA382802827KMT2Ac.6823A>C (p.Ser2275Arg)
c.6814A>C (p.Ser2272Arg)
c.763A>C (p.Ser255Arg)
c.1021A>C (p.Ser341Arg)
c.6796A>C (p.Ser2266Arg)
c.6715A>C (p.Ser2239Arg)
n.6066A>C
c.6724A>C (p.Ser2242Arg)
c.6601A>C (p.Ser2201Arg)
n.851A>C
c.4207A>C (p.Ser1403Arg)
c.6820A>C (p.Ser2274Arg)
c.4630A>C (p.Ser1544Arg)
c.4306A>C (p.Ser1436Arg)
gnomAD v4
11g.118502616A>GCA382802825KMT2Ac.6823A>G (p.Ser2275Gly)
c.6814A>G (p.Ser2272Gly)
c.763A>G (p.Ser255Gly)
c.1021A>G (p.Ser341Gly)
c.6796A>G (p.Ser2266Gly)
c.6715A>G (p.Ser2239Gly)
n.6066A>G
c.6724A>G (p.Ser2242Gly)
c.6601A>G (p.Ser2201Gly)
n.851A>G
c.4207A>G (p.Ser1403Gly)
c.6820A>G (p.Ser2274Gly)
c.4630A>G (p.Ser1544Gly)
c.4306A>G (p.Ser1436Gly)
ClinVar dbSNP
11g.118502616A>TCA382802824KMT2Ac.6823A>T (p.Ser2275Cys)
c.6814A>T (p.Ser2272Cys)
c.763A>T (p.Ser255Cys)
c.1021A>T (p.Ser341Cys)
c.6796A>T (p.Ser2266Cys)
c.6715A>T (p.Ser2239Cys)
n.6066A>T
c.6724A>T (p.Ser2242Cys)
c.6601A>T (p.Ser2201Cys)
n.851A>T
c.4207A>T (p.Ser1403Cys)
c.6820A>T (p.Ser2274Cys)
c.4630A>T (p.Ser1544Cys)
c.4306A>T (p.Ser1436Cys)
11g.118502617G>ACA382802833KMT2Ac.6824G>A (p.Ser2275Asn)
c.6815G>A (p.Ser2272Asn)
c.764G>A (p.Ser255Asn)
c.1022G>A (p.Ser341Asn)
c.6797G>A (p.Ser2266Asn)
c.6716G>A (p.Ser2239Asn)
n.6067G>A
c.6725G>A (p.Ser2242Asn)
c.6602G>A (p.Ser2201Asn)
n.852G>A
c.4208G>A (p.Ser1403Asn)
c.6821G>A (p.Ser2274Asn)
c.4631G>A (p.Ser1544Asn)
c.4307G>A (p.Ser1436Asn)
dbSNP
11g.118502617G>CCA382802829KMT2Ac.6824G>C (p.Ser2275Thr)
c.6815G>C (p.Ser2272Thr)
c.764G>C (p.Ser255Thr)
c.1022G>C (p.Ser341Thr)
c.6797G>C (p.Ser2266Thr)
c.6716G>C (p.Ser2239Thr)
n.6067G>C
c.6725G>C (p.Ser2242Thr)
c.6602G>C (p.Ser2201Thr)
n.852G>C
c.4208G>C (p.Ser1403Thr)
c.6821G>C (p.Ser2274Thr)
c.4631G>C (p.Ser1544Thr)
c.4307G>C (p.Ser1436Thr)
gnomAD v4
11g.118502617G>TCA382802831KMT2Ac.6824G>T (p.Ser2275Ile)
c.6815G>T (p.Ser2272Ile)
c.764G>T (p.Ser255Ile)
c.1022G>T (p.Ser341Ile)
c.6797G>T (p.Ser2266Ile)
c.6716G>T (p.Ser2239Ile)
n.6067G>T
c.6725G>T (p.Ser2242Ile)
c.6602G>T (p.Ser2201Ile)
n.852G>T
c.4208G>T (p.Ser1403Ile)
c.6821G>T (p.Ser2274Ile)
c.4631G>T (p.Ser1544Ile)
c.4307G>T (p.Ser1436Ile)
11g.118502618T>ACA382802835KMT2Ac.6825T>A (p.Ser2275Arg)
c.6816T>A (p.Ser2272Arg)
c.765T>A (p.Ser255Arg)
c.1023T>A (p.Ser341Arg)
c.6798T>A (p.Ser2266Arg)
c.6717T>A (p.Ser2239Arg)
n.6068T>A
c.6726T>A (p.Ser2242Arg)
c.6603T>A (p.Ser2201Arg)
n.853T>A
c.4209T>A (p.Ser1403Arg)
c.6822T>A (p.Ser2274Arg)
c.4632T>A (p.Ser1544Arg)
c.4308T>A (p.Ser1436Arg)
11g.118502618T>CCA477093568KMT2Ac.6825T>C (p.Ser2275=)
c.6816T>C (p.Ser2272=)
c.765T>C (p.Ser255=)
c.1023T>C (p.Ser341=)
c.6798T>C (p.Ser2266=)
c.6717T>C (p.Ser2239=)
n.6068T>C
c.6726T>C (p.Ser2242=)
c.6603T>C (p.Ser2201=)
n.853T>C
c.4209T>C (p.Ser1403=)
c.6822T>C (p.Ser2274=)
c.4632T>C (p.Ser1544=)
c.4308T>C (p.Ser1436=)
gnomAD v4
11g.118502618T>GCA382802836KMT2Ac.6825T>G (p.Ser2275Arg)
c.6816T>G (p.Ser2272Arg)
c.765T>G (p.Ser255Arg)
c.1023T>G (p.Ser341Arg)
c.6798T>G (p.Ser2266Arg)
c.6717T>G (p.Ser2239Arg)
n.6068T>G
c.6726T>G (p.Ser2242Arg)
c.6603T>G (p.Ser2201Arg)
n.853T>G
c.4209T>G (p.Ser1403Arg)
c.6822T>G (p.Ser2274Arg)
c.4632T>G (p.Ser1544Arg)
c.4308T>G (p.Ser1436Arg)
11g.118502619G>ACA6304304KMT2Ac.6826G>A (p.Ala2276Thr)
c.6817G>A (p.Ala2273Thr)
c.766G>A (p.Ala256Thr)
c.1024G>A (p.Ala342Thr)
c.6799G>A (p.Ala2267Thr)
c.6718G>A (p.Ala2240Thr)
n.6069G>A
c.6727G>A (p.Ala2243Thr)
c.6604G>A (p.Ala2202Thr)
n.854G>A
c.4210G>A (p.Ala1404Thr)
c.6823G>A (p.Ala2275Thr)
c.4633G>A (p.Ala1545Thr)
c.4309G>A (p.Ala1437Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502619G>CCA382802838KMT2Ac.6826G>C (p.Ala2276Pro)
c.6817G>C (p.Ala2273Pro)
c.766G>C (p.Ala256Pro)
c.1024G>C (p.Ala342Pro)
c.6799G>C (p.Ala2267Pro)
c.6718G>C (p.Ala2240Pro)
n.6069G>C
c.6727G>C (p.Ala2243Pro)
c.6604G>C (p.Ala2202Pro)
n.854G>C
c.4210G>C (p.Ala1404Pro)
c.6823G>C (p.Ala2275Pro)
c.4633G>C (p.Ala1545Pro)
c.4309G>C (p.Ala1437Pro)
11g.118502619G=CA2003526542KMT2Ac.6826G= (p.Ala2276=)
c.6817G= (p.Ala2273=)
c.766G= (p.Ala256=)
c.1024G= (p.Ala342=)
c.6799G= (p.Ala2267=)
c.6718G= (p.Ala2240=)
n.6069G=
c.6727G= (p.Ala2243=)
c.6604G= (p.Ala2202=)
n.854G=
c.4210G= (p.Ala1404=)
c.6823G= (p.Ala2275=)
c.4633G= (p.Ala1545=)
c.4309G= (p.Ala1437=)
11g.118502619G>TCA382802840KMT2Ac.6826G>T (p.Ala2276Ser)
c.6817G>T (p.Ala2273Ser)
c.766G>T (p.Ala256Ser)
c.1024G>T (p.Ala342Ser)
c.6799G>T (p.Ala2267Ser)
c.6718G>T (p.Ala2240Ser)
n.6069G>T
c.6727G>T (p.Ala2243Ser)
c.6604G>T (p.Ala2202Ser)
n.854G>T
c.4210G>T (p.Ala1404Ser)
c.6823G>T (p.Ala2275Ser)
c.4633G>T (p.Ala1545Ser)
c.4309G>T (p.Ala1437Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.118502620C>ACA382802842KMT2Ac.6827C>A (p.Ala2276Asp)
c.6818C>A (p.Ala2273Asp)
c.767C>A (p.Ala256Asp)
c.1025C>A (p.Ala342Asp)
c.6800C>A (p.Ala2267Asp)
c.6719C>A (p.Ala2240Asp)
n.6070C>A
c.6728C>A (p.Ala2243Asp)
c.6605C>A (p.Ala2202Asp)
n.855C>A
c.4211C>A (p.Ala1404Asp)
c.6824C>A (p.Ala2275Asp)
c.4634C>A (p.Ala1545Asp)
c.4310C>A (p.Ala1437Asp)
dbSNP
11g.118502620C>GCA382802844KMT2Ac.6827C>G (p.Ala2276Gly)
c.6818C>G (p.Ala2273Gly)
c.767C>G (p.Ala256Gly)
c.1025C>G (p.Ala342Gly)
c.6800C>G (p.Ala2267Gly)
c.6719C>G (p.Ala2240Gly)
n.6070C>G
c.6728C>G (p.Ala2243Gly)
c.6605C>G (p.Ala2202Gly)
n.855C>G
c.4211C>G (p.Ala1404Gly)
c.6824C>G (p.Ala2275Gly)
c.4634C>G (p.Ala1545Gly)
c.4310C>G (p.Ala1437Gly)
11g.118502620C>TCA382802846KMT2Ac.6827C>T (p.Ala2276Val)
c.6818C>T (p.Ala2273Val)
c.767C>T (p.Ala256Val)
c.1025C>T (p.Ala342Val)
c.6800C>T (p.Ala2267Val)
c.6719C>T (p.Ala2240Val)
n.6070C>T
c.6728C>T (p.Ala2243Val)
c.6605C>T (p.Ala2202Val)
n.855C>T
c.4211C>T (p.Ala1404Val)
c.6824C>T (p.Ala2275Val)
c.4634C>T (p.Ala1545Val)
c.4310C>T (p.Ala1437Val)
11g.118502621C>ACA477093569KMT2Ac.6828C>A (p.Ala2276=)
c.6819C>A (p.Ala2273=)
c.768C>A (p.Ala256=)
c.1026C>A (p.Ala342=)
c.6801C>A (p.Ala2267=)
c.6720C>A (p.Ala2240=)
n.6071C>A
c.6729C>A (p.Ala2243=)
c.6606C>A (p.Ala2202=)
n.856C>A
c.4212C>A (p.Ala1404=)
c.6825C>A (p.Ala2275=)
c.4635C>A (p.Ala1545=)
c.4311C>A (p.Ala1437=)
gnomAD v4
11g.118502621C=CA2003526547KMT2Ac.6828C= (p.Ala2276=)
c.6819C= (p.Ala2273=)
c.768C= (p.Ala256=)
c.1026C= (p.Ala342=)
c.6801C= (p.Ala2267=)
c.6720C= (p.Ala2240=)
n.6071C=
c.6729C= (p.Ala2243=)
c.6606C= (p.Ala2202=)
n.856C=
c.4212C= (p.Ala1404=)
c.6825C= (p.Ala2275=)
c.4635C= (p.Ala1545=)
c.4311C= (p.Ala1437=)
11g.118502621C>GCA477093570KMT2Ac.6828C>G (p.Ala2276=)
c.6819C>G (p.Ala2273=)
c.768C>G (p.Ala256=)
c.1026C>G (p.Ala342=)
c.6801C>G (p.Ala2267=)
c.6720C>G (p.Ala2240=)
n.6071C>G
c.6729C>G (p.Ala2243=)
c.6606C>G (p.Ala2202=)
n.856C>G
c.4212C>G (p.Ala1404=)
c.6825C>G (p.Ala2275=)
c.4635C>G (p.Ala1545=)
c.4311C>G (p.Ala1437=)
dbSNP gnomAD v4
11g.118502621C>TCA477093571KMT2Ac.6828C>T (p.Ala2276=)
c.6819C>T (p.Ala2273=)
c.768C>T (p.Ala256=)
c.1026C>T (p.Ala342=)
c.6801C>T (p.Ala2267=)
c.6720C>T (p.Ala2240=)
n.6071C>T
c.6729C>T (p.Ala2243=)
c.6606C>T (p.Ala2202=)
n.856C>T
c.4212C>T (p.Ala1404=)
c.6825C>T (p.Ala2275=)
c.4635C>T (p.Ala1545=)
c.4311C>T (p.Ala1437=)
gnomAD v4
11g.118502622A>CCA382802848KMT2Ac.6829A>C (p.Lys2277Gln)
c.6820A>C (p.Lys2274Gln)
c.769A>C (p.Lys257Gln)
c.1027A>C (p.Lys343Gln)
c.6802A>C (p.Lys2268Gln)
c.6721A>C (p.Lys2241Gln)
n.6072A>C
c.6730A>C (p.Lys2244Gln)
c.6607A>C (p.Lys2203Gln)
n.857A>C
c.4213A>C (p.Lys1405Gln)
c.6826A>C (p.Lys2276Gln)
c.4636A>C (p.Lys1546Gln)
c.4312A>C (p.Lys1438Gln)
11g.118502622A>GCA382802850KMT2Ac.6829A>G (p.Lys2277Glu)
c.6820A>G (p.Lys2274Glu)
c.769A>G (p.Lys257Glu)
c.1027A>G (p.Lys343Glu)
c.6802A>G (p.Lys2268Glu)
c.6721A>G (p.Lys2241Glu)
n.6072A>G
c.6730A>G (p.Lys2244Glu)
c.6607A>G (p.Lys2203Glu)
n.857A>G
c.4213A>G (p.Lys1405Glu)
c.6826A>G (p.Lys2276Glu)
c.4636A>G (p.Lys1546Glu)
c.4312A>G (p.Lys1438Glu)
11g.118502622A>TCA382802851KMT2Ac.6829A>T (p.Lys2277Ter)
c.6820A>T (p.Lys2274Ter)
c.769A>T (p.Lys257Ter)
c.1027A>T (p.Lys343Ter)
c.6802A>T (p.Lys2268Ter)
c.6721A>T (p.Lys2241Ter)
n.6072A>T
c.6730A>T (p.Lys2244Ter)
c.6607A>T (p.Lys2203Ter)
n.857A>T
c.4213A>T (p.Lys1405Ter)
c.6826A>T (p.Lys2276Ter)
c.4636A>T (p.Lys1546Ter)
c.4312A>T (p.Lys1438Ter)
11g.118502623A=CA2003526552KMT2Ac.6830A= (p.Lys2277=)
c.6821A= (p.Lys2274=)
c.770A= (p.Lys257=)
c.1028A= (p.Lys343=)
c.6803A= (p.Lys2268=)
c.6722A= (p.Lys2241=)
n.6073A=
c.6731A= (p.Lys2244=)
c.6608A= (p.Lys2203=)
n.858A=
c.4214A= (p.Lys1405=)
c.6827A= (p.Lys2276=)
c.4637A= (p.Lys1546=)
c.4313A= (p.Lys1438=)
11g.118502623A>CCA382802853KMT2Ac.6830A>C (p.Lys2277Thr)
c.6821A>C (p.Lys2274Thr)
c.770A>C (p.Lys257Thr)
c.1028A>C (p.Lys343Thr)
c.6803A>C (p.Lys2268Thr)
c.6722A>C (p.Lys2241Thr)
n.6073A>C
c.6731A>C (p.Lys2244Thr)
c.6608A>C (p.Lys2203Thr)
n.858A>C
c.4214A>C (p.Lys1405Thr)
c.6827A>C (p.Lys2276Thr)
c.4637A>C (p.Lys1546Thr)
c.4313A>C (p.Lys1438Thr)
11g.118502623A>GCA382802854KMT2Ac.6830A>G (p.Lys2277Arg)
c.6821A>G (p.Lys2274Arg)
c.770A>G (p.Lys257Arg)
c.1028A>G (p.Lys343Arg)
c.6803A>G (p.Lys2268Arg)
c.6722A>G (p.Lys2241Arg)
n.6073A>G
c.6731A>G (p.Lys2244Arg)
c.6608A>G (p.Lys2203Arg)
n.858A>G
c.4214A>G (p.Lys1405Arg)
c.6827A>G (p.Lys2276Arg)
c.4637A>G (p.Lys1546Arg)
c.4313A>G (p.Lys1438Arg)
dbSNP gnomAD v3 gnomAD v4
11g.118502623A>TCA382802852KMT2Ac.6830A>T (p.Lys2277Ile)
c.6821A>T (p.Lys2274Ile)
c.770A>T (p.Lys257Ile)
c.1028A>T (p.Lys343Ile)
c.6803A>T (p.Lys2268Ile)
c.6722A>T (p.Lys2241Ile)
n.6073A>T
c.6731A>T (p.Lys2244Ile)
c.6608A>T (p.Lys2203Ile)
n.858A>T
c.4214A>T (p.Lys1405Ile)
c.6827A>T (p.Lys2276Ile)
c.4637A>T (p.Lys1546Ile)
c.4313A>T (p.Lys1438Ile)
11g.118502624A=CA2003526555KMT2Ac.6831A= (p.Lys2277=)
c.6822A= (p.Lys2274=)
c.771A= (p.Lys257=)
c.1029A= (p.Lys343=)
c.6804A= (p.Lys2268=)
c.6723A= (p.Lys2241=)
n.6074A=
c.6732A= (p.Lys2244=)
c.6609A= (p.Lys2203=)
n.859A=
c.4215A= (p.Lys1405=)
c.6828A= (p.Lys2276=)
c.4638A= (p.Lys1546=)
c.4314A= (p.Lys1438=)
11g.118502624A>CCA382802856KMT2Ac.6831A>C (p.Lys2277Asn)
c.6822A>C (p.Lys2274Asn)
c.771A>C (p.Lys257Asn)
c.1029A>C (p.Lys343Asn)
c.6804A>C (p.Lys2268Asn)
c.6723A>C (p.Lys2241Asn)
n.6074A>C
c.6732A>C (p.Lys2244Asn)
c.6609A>C (p.Lys2203Asn)
n.859A>C
c.4215A>C (p.Lys1405Asn)
c.6828A>C (p.Lys2276Asn)
c.4638A>C (p.Lys1546Asn)
c.4314A>C (p.Lys1438Asn)
dbSNP gnomAD v2 gnomAD v4
11g.118502624A>GCA477093572KMT2Ac.6831A>G (p.Lys2277=)
c.6822A>G (p.Lys2274=)
c.771A>G (p.Lys257=)
c.1029A>G (p.Lys343=)
c.6804A>G (p.Lys2268=)
c.6723A>G (p.Lys2241=)
n.6074A>G
c.6732A>G (p.Lys2244=)
c.6609A>G (p.Lys2203=)
n.859A>G
c.4215A>G (p.Lys1405=)
c.6828A>G (p.Lys2276=)
c.4638A>G (p.Lys1546=)
c.4314A>G (p.Lys1438=)
11g.118502624A>TCA382802858KMT2Ac.6831A>T (p.Lys2277Asn)
c.6822A>T (p.Lys2274Asn)
c.771A>T (p.Lys257Asn)
c.1029A>T (p.Lys343Asn)
c.6804A>T (p.Lys2268Asn)
c.6723A>T (p.Lys2241Asn)
n.6074A>T
c.6732A>T (p.Lys2244Asn)
c.6609A>T (p.Lys2203Asn)
n.859A>T
c.4215A>T (p.Lys1405Asn)
c.6828A>T (p.Lys2276Asn)
c.4638A>T (p.Lys1546Asn)
c.4314A>T (p.Lys1438Asn)
11g.118502625G>ACA382802860KMT2Ac.6832G>A (p.Val2278Ile)
c.6823G>A (p.Val2275Ile)
c.772G>A (p.Val258Ile)
c.1030G>A (p.Val344Ile)
c.6805G>A (p.Val2269Ile)
c.6724G>A (p.Val2242Ile)
n.6075G>A
c.6733G>A (p.Val2245Ile)
c.6610G>A (p.Val2204Ile)
n.860G>A
c.4216G>A (p.Val1406Ile)
c.6829G>A (p.Val2277Ile)
c.4639G>A (p.Val1547Ile)
c.4315G>A (p.Val1439Ile)
dbSNP gnomAD v3 gnomAD v4
11g.118502625G>CCA382802862KMT2Ac.6832G>C (p.Val2278Leu)
c.6823G>C (p.Val2275Leu)
c.772G>C (p.Val258Leu)
c.1030G>C (p.Val344Leu)
c.6805G>C (p.Val2269Leu)
c.6724G>C (p.Val2242Leu)
n.6075G>C
c.6733G>C (p.Val2245Leu)
c.6610G>C (p.Val2204Leu)
n.860G>C
c.4216G>C (p.Val1406Leu)
c.6829G>C (p.Val2277Leu)
c.4639G>C (p.Val1547Leu)
c.4315G>C (p.Val1439Leu)
11g.118502625G=CA2003526560KMT2Ac.6832G= (p.Val2278=)
c.6823G= (p.Val2275=)
c.772G= (p.Val258=)
c.1030G= (p.Val344=)
c.6805G= (p.Val2269=)
c.6724G= (p.Val2242=)
n.6075G=
c.6733G= (p.Val2245=)
c.6610G= (p.Val2204=)
n.860G=
c.4216G= (p.Val1406=)
c.6829G= (p.Val2277=)
c.4639G= (p.Val1547=)
c.4315G= (p.Val1439=)
11g.118502625G>TCA382802864KMT2Ac.6832G>T (p.Val2278Leu)
c.6823G>T (p.Val2275Leu)
c.772G>T (p.Val258Leu)
c.1030G>T (p.Val344Leu)
c.6805G>T (p.Val2269Leu)
c.6724G>T (p.Val2242Leu)
n.6075G>T
c.6733G>T (p.Val2245Leu)
c.6610G>T (p.Val2204Leu)
n.860G>T
c.4216G>T (p.Val1406Leu)
c.6829G>T (p.Val2277Leu)
c.4639G>T (p.Val1547Leu)
c.4315G>T (p.Val1439Leu)
11g.118502626T>ACA382802868KMT2Ac.6833T>A (p.Val2278Glu)
c.6824T>A (p.Val2275Glu)
c.773T>A (p.Val258Glu)
c.1031T>A (p.Val344Glu)
c.6806T>A (p.Val2269Glu)
c.6725T>A (p.Val2242Glu)
n.6076T>A
c.6734T>A (p.Val2245Glu)
c.6611T>A (p.Val2204Glu)
n.861T>A
c.4217T>A (p.Val1406Glu)
c.6830T>A (p.Val2277Glu)
c.4640T>A (p.Val1547Glu)
c.4316T>A (p.Val1439Glu)
11g.118502626T>CCA382802865KMT2Ac.6833T>C (p.Val2278Ala)
c.6824T>C (p.Val2275Ala)
c.773T>C (p.Val258Ala)
c.1031T>C (p.Val344Ala)
c.6806T>C (p.Val2269Ala)
c.6725T>C (p.Val2242Ala)
n.6076T>C
c.6734T>C (p.Val2245Ala)
c.6611T>C (p.Val2204Ala)
n.861T>C
c.4217T>C (p.Val1406Ala)
c.6830T>C (p.Val2277Ala)
c.4640T>C (p.Val1547Ala)
c.4316T>C (p.Val1439Ala)
dbSNP gnomAD v3 gnomAD v4
11g.118502626T>GCA382802866KMT2Ac.6833T>G (p.Val2278Gly)
c.6824T>G (p.Val2275Gly)
c.773T>G (p.Val258Gly)
c.1031T>G (p.Val344Gly)
c.6806T>G (p.Val2269Gly)
c.6725T>G (p.Val2242Gly)
n.6076T>G
c.6734T>G (p.Val2245Gly)
c.6611T>G (p.Val2204Gly)
n.861T>G
c.4217T>G (p.Val1406Gly)
c.6830T>G (p.Val2277Gly)
c.4640T>G (p.Val1547Gly)
c.4316T>G (p.Val1439Gly)
11g.118502626T=CA2003526566KMT2Ac.6833T= (p.Val2278=)
c.6824T= (p.Val2275=)
c.773T= (p.Val258=)
c.1031T= (p.Val344=)
c.6806T= (p.Val2269=)
c.6725T= (p.Val2242=)
n.6076T=
c.6734T= (p.Val2245=)
c.6611T= (p.Val2204=)
n.861T=
c.4217T= (p.Val1406=)
c.6830T= (p.Val2277=)
c.4640T= (p.Val1547=)
c.4316T= (p.Val1439=)
11g.118502627A=CA2003526572KMT2Ac.6834A= (p.Val2278=)
c.6825A= (p.Val2275=)
c.774A= (p.Val258=)
c.1032A= (p.Val344=)
c.6807A= (p.Val2269=)
c.6726A= (p.Val2242=)
n.6077A=
c.6735A= (p.Val2245=)
c.6612A= (p.Val2204=)
n.862A=
c.4218A= (p.Val1406=)
c.6831A= (p.Val2277=)
c.4641A= (p.Val1547=)
c.4317A= (p.Val1439=)
11g.118502627A>CCA477093573KMT2Ac.6834A>C (p.Val2278=)
c.6825A>C (p.Val2275=)
c.774A>C (p.Val258=)
c.1032A>C (p.Val344=)
c.6807A>C (p.Val2269=)
c.6726A>C (p.Val2242=)
n.6077A>C
c.6735A>C (p.Val2245=)
c.6612A>C (p.Val2204=)
n.862A>C
c.4218A>C (p.Val1406=)
c.6831A>C (p.Val2277=)
c.4641A>C (p.Val1547=)
c.4317A>C (p.Val1439=)
11g.118502627A>GCA477093574KMT2Ac.6834A>G (p.Val2278=)
c.6825A>G (p.Val2275=)
c.774A>G (p.Val258=)
c.1032A>G (p.Val344=)
c.6807A>G (p.Val2269=)
c.6726A>G (p.Val2242=)
n.6077A>G
c.6735A>G (p.Val2245=)
c.6612A>G (p.Val2204=)
n.862A>G
c.4218A>G (p.Val1406=)
c.6831A>G (p.Val2277=)
c.4641A>G (p.Val1547=)
c.4317A>G (p.Val1439=)
dbSNP gnomAD v2 gnomAD v4
11g.118502627A>TCA477093575KMT2Ac.6834A>T (p.Val2278=)
c.6825A>T (p.Val2275=)
c.774A>T (p.Val258=)
c.1032A>T (p.Val344=)
c.6807A>T (p.Val2269=)
c.6726A>T (p.Val2242=)
n.6077A>T
c.6735A>T (p.Val2245=)
c.6612A>T (p.Val2204=)
n.862A>T
c.4218A>T (p.Val1406=)
c.6831A>T (p.Val2277=)
c.4641A>T (p.Val1547=)
c.4317A>T (p.Val1439=)
11g.118502627dupCA2695215544KMT2Ac.6834dup (p.Val2279SerfsTer2)
c.6825dup (p.Val2276SerfsTer2)
c.774dup (p.Val259SerfsTer2)
c.1032dup (p.Val345SerfsTer2)
c.6807dup (p.Val2270SerfsTer2)
c.6726dup (p.Val2243SerfsTer2)
n.6077dup
c.6735dup (p.Val2246SerfsTer2)
c.6612dup (p.Val2205SerfsTer2)
n.862dup
c.4218dup (p.Val1407SerfsTer2)
c.6831dup (p.Val2278SerfsTer2)
c.4641dup (p.Val1548SerfsTer2)
c.4317dup (p.Val1440SerfsTer2)
11g.118502628G>ACA382802870KMT2Ac.6835G>A (p.Val2279Ile)
c.6826G>A (p.Val2276Ile)
c.775G>A (p.Val259Ile)
c.1033G>A (p.Val345Ile)
c.6808G>A (p.Val2270Ile)
c.6727G>A (p.Val2243Ile)
n.6078G>A
c.6736G>A (p.Val2246Ile)
c.6613G>A (p.Val2205Ile)
n.863G>A
c.4219G>A (p.Val1407Ile)
c.6832G>A (p.Val2278Ile)
c.4642G>A (p.Val1548Ile)
c.4318G>A (p.Val1440Ile)
11g.118502628G>CCA382802872KMT2Ac.6835G>C (p.Val2279Leu)
c.6826G>C (p.Val2276Leu)
c.775G>C (p.Val259Leu)
c.1033G>C (p.Val345Leu)
c.6808G>C (p.Val2270Leu)
c.6727G>C (p.Val2243Leu)
n.6078G>C
c.6736G>C (p.Val2246Leu)
c.6613G>C (p.Val2205Leu)
n.863G>C
c.4219G>C (p.Val1407Leu)
c.6832G>C (p.Val2278Leu)
c.4642G>C (p.Val1548Leu)
c.4318G>C (p.Val1440Leu)
11g.118502628G>TCA382802873KMT2Ac.6835G>T (p.Val2279Phe)
c.6826G>T (p.Val2276Phe)
c.775G>T (p.Val259Phe)
c.1033G>T (p.Val345Phe)
c.6808G>T (p.Val2270Phe)
c.6727G>T (p.Val2243Phe)
n.6078G>T
c.6736G>T (p.Val2246Phe)
c.6613G>T (p.Val2205Phe)
n.863G>T
c.4219G>T (p.Val1407Phe)
c.6832G>T (p.Val2278Phe)
c.4642G>T (p.Val1548Phe)
c.4318G>T (p.Val1440Phe)
11g.118502629T>ACA382802874KMT2Ac.6836T>A (p.Val2279Asp)
c.6827T>A (p.Val2276Asp)
c.776T>A (p.Val259Asp)
c.1034T>A (p.Val345Asp)
c.6809T>A (p.Val2270Asp)
c.6728T>A (p.Val2243Asp)
n.6079T>A
c.6737T>A (p.Val2246Asp)
c.6614T>A (p.Val2205Asp)
n.864T>A
c.4220T>A (p.Val1407Asp)
c.6833T>A (p.Val2278Asp)
c.4643T>A (p.Val1548Asp)
c.4319T>A (p.Val1440Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.118502629T>CCA6304305KMT2Ac.6836T>C (p.Val2279Ala)
c.6827T>C (p.Val2276Ala)
c.776T>C (p.Val259Ala)
c.1034T>C (p.Val345Ala)
c.6809T>C (p.Val2270Ala)
c.6728T>C (p.Val2243Ala)
n.6079T>C
c.6737T>C (p.Val2246Ala)
c.6614T>C (p.Val2205Ala)
n.864T>C
c.4220T>C (p.Val1407Ala)
c.6833T>C (p.Val2278Ala)
c.4643T>C (p.Val1548Ala)
c.4319T>C (p.Val1440Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.118502629T>GCA382802877KMT2Ac.6836T>G (p.Val2279Gly)
c.6827T>G (p.Val2276Gly)
c.776T>G (p.Val259Gly)
c.1034T>G (p.Val345Gly)
c.6809T>G (p.Val2270Gly)
c.6728T>G (p.Val2243Gly)
n.6079T>G
c.6737T>G (p.Val2246Gly)
c.6614T>G (p.Val2205Gly)
n.864T>G
c.4220T>G (p.Val1407Gly)
c.6833T>G (p.Val2278Gly)
c.4643T>G (p.Val1548Gly)
c.4319T>G (p.Val1440Gly)
11g.118502629T=CA2003526577KMT2Ac.6836T= (p.Val2279=)
c.6827T= (p.Val2276=)
c.776T= (p.Val259=)
c.1034T= (p.Val345=)
c.6809T= (p.Val2270=)
c.6728T= (p.Val2243=)
n.6079T=
c.6737T= (p.Val2246=)
c.6614T= (p.Val2205=)
n.864T=
c.4220T= (p.Val1407=)
c.6833T= (p.Val2278=)
c.4643T= (p.Val1548=)
c.4319T= (p.Val1440=)
11g.118502630T>ACA477093576KMT2Ac.6837T>A (p.Val2279=)
c.6828T>A (p.Val2276=)
c.777T>A (p.Val259=)
c.1035T>A (p.Val345=)
c.6810T>A (p.Val2270=)
c.6729T>A (p.Val2243=)
n.6080T>A
c.6738T>A (p.Val2246=)
c.6615T>A (p.Val2205=)
n.865T>A
c.4221T>A (p.Val1407=)
c.6834T>A (p.Val2278=)
c.4644T>A (p.Val1548=)
c.4320T>A (p.Val1440=)
11g.118502630T>CCA477093577KMT2Ac.6837T>C (p.Val2279=)
c.6828T>C (p.Val2276=)
c.777T>C (p.Val259=)
c.1035T>C (p.Val345=)
c.6810T>C (p.Val2270=)
c.6729T>C (p.Val2243=)
n.6080T>C
c.6738T>C (p.Val2246=)
c.6615T>C (p.Val2205=)
n.865T>C
c.4221T>C (p.Val1407=)
c.6834T>C (p.Val2278=)
c.4644T>C (p.Val1548=)
c.4320T>C (p.Val1440=)
11g.118502630T>GCA477093578KMT2Ac.6837T>G (p.Val2279=)
c.6828T>G (p.Val2276=)
c.777T>G (p.Val259=)
c.1035T>G (p.Val345=)
c.6810T>G (p.Val2270=)
c.6729T>G (p.Val2243=)
n.6080T>G
c.6738T>G (p.Val2246=)
c.6615T>G (p.Val2205=)
n.865T>G
c.4221T>G (p.Val1407=)
c.6834T>G (p.Val2278=)
c.4644T>G (p.Val1548=)
c.4320T>G (p.Val1440=)
11g.118502631G>ACA382802880KMT2Ac.6838G>A (p.Asp2280Asn)
c.6829G>A (p.Asp2277Asn)
c.778G>A (p.Asp260Asn)
c.1036G>A (p.Asp346Asn)
c.6811G>A (p.Asp2271Asn)
c.6730G>A (p.Asp2244Asn)
n.6081G>A
c.6739G>A (p.Asp2247Asn)
c.6616G>A (p.Asp2206Asn)
n.866G>A
c.4222G>A (p.Asp1408Asn)
c.6835G>A (p.Asp2279Asn)
c.4645G>A (p.Asp1549Asn)
c.4321G>A (p.Asp1441Asn)
11g.118502631G>CCA382802882KMT2Ac.6838G>C (p.Asp2280His)
c.6829G>C (p.Asp2277His)
c.778G>C (p.Asp260His)
c.1036G>C (p.Asp346His)
c.6811G>C (p.Asp2271His)
c.6730G>C (p.Asp2244His)
n.6081G>C
c.6739G>C (p.Asp2247His)
c.6616G>C (p.Asp2206His)
n.866G>C
c.4222G>C (p.Asp1408His)
c.6835G>C (p.Asp2279His)
c.4645G>C (p.Asp1549His)
c.4321G>C (p.Asp1441His)
11g.118502631G>TCA382802879KMT2Ac.6838G>T (p.Asp2280Tyr)
c.6829G>T (p.Asp2277Tyr)
c.778G>T (p.Asp260Tyr)
c.1036G>T (p.Asp346Tyr)
c.6811G>T (p.Asp2271Tyr)
c.6730G>T (p.Asp2244Tyr)
n.6081G>T
c.6739G>T (p.Asp2247Tyr)
c.6616G>T (p.Asp2206Tyr)
n.866G>T
c.4222G>T (p.Asp1408Tyr)
c.6835G>T (p.Asp2279Tyr)
c.4645G>T (p.Asp1549Tyr)
c.4321G>T (p.Asp1441Tyr)
11g.118502632A>CCA382802884KMT2Ac.6839A>C (p.Asp2280Ala)
c.6830A>C (p.Asp2277Ala)
c.779A>C (p.Asp260Ala)
c.1037A>C (p.Asp346Ala)
c.6812A>C (p.Asp2271Ala)
c.6731A>C (p.Asp2244Ala)
n.6082A>C
c.6740A>C (p.Asp2247Ala)
c.6617A>C (p.Asp2206Ala)
n.867A>C
c.4223A>C (p.Asp1408Ala)
c.6836A>C (p.Asp2279Ala)
c.4646A>C (p.Asp1549Ala)
c.4322A>C (p.Asp1441Ala)
11g.118502632A>GCA382802887KMT2Ac.6839A>G (p.Asp2280Gly)
c.6830A>G (p.Asp2277Gly)
c.779A>G (p.Asp260Gly)
c.1037A>G (p.Asp346Gly)
c.6812A>G (p.Asp2271Gly)
c.6731A>G (p.Asp2244Gly)
n.6082A>G
c.6740A>G (p.Asp2247Gly)
c.6617A>G (p.Asp2206Gly)
n.867A>G
c.4223A>G (p.Asp1408Gly)
c.6836A>G (p.Asp2279Gly)
c.4646A>G (p.Asp1549Gly)
c.4322A>G (p.Asp1441Gly)
11g.118502632A>TCA382802886KMT2Ac.6839A>T (p.Asp2280Val)
c.6830A>T (p.Asp2277Val)
c.779A>T (p.Asp260Val)
c.1037A>T (p.Asp346Val)
c.6812A>T (p.Asp2271Val)
c.6731A>T (p.Asp2244Val)
n.6082A>T
c.6740A>T (p.Asp2247Val)
c.6617A>T (p.Asp2206Val)
n.867A>T
c.4223A>T (p.Asp1408Val)
c.6836A>T (p.Asp2279Val)
c.4646A>T (p.Asp1549Val)
c.4322A>T (p.Asp1441Val)
11g.118502633T>ACA382802889KMT2Ac.6840T>A (p.Asp2280Glu)
c.6831T>A (p.Asp2277Glu)
c.780T>A (p.Asp260Glu)
c.1038T>A (p.Asp346Glu)
c.6813T>A (p.Asp2271Glu)
c.6732T>A (p.Asp2244Glu)
n.6083T>A
c.6741T>A (p.Asp2247Glu)
c.6618T>A (p.Asp2206Glu)
n.868T>A
c.4224T>A (p.Asp1408Glu)
c.6837T>A (p.Asp2279Glu)
c.4647T>A (p.Asp1549Glu)
c.4323T>A (p.Asp1441Glu)
11g.118502633T>CCA477093579KMT2Ac.6840T>C (p.Asp2280=)
c.6831T>C (p.Asp2277=)
c.780T>C (p.Asp260=)
c.1038T>C (p.Asp346=)
c.6813T>C (p.Asp2271=)
c.6732T>C (p.Asp2244=)
n.6083T>C
c.6741T>C (p.Asp2247=)
c.6618T>C (p.Asp2206=)
n.868T>C
c.4224T>C (p.Asp1408=)
c.6837T>C (p.Asp2279=)
c.4647T>C (p.Asp1549=)
c.4323T>C (p.Asp1441=)
11g.118502633T>GCA382802891KMT2Ac.6840T>G (p.Asp2280Glu)
c.6831T>G (p.Asp2277Glu)
c.780T>G (p.Asp260Glu)
c.1038T>G (p.Asp346Glu)
c.6813T>G (p.Asp2271Glu)
c.6732T>G (p.Asp2244Glu)
n.6083T>G
c.6741T>G (p.Asp2247Glu)
c.6618T>G (p.Asp2206Glu)
n.868T>G
c.4224T>G (p.Asp1408Glu)
c.6837T>G (p.Asp2279Glu)
c.4647T>G (p.Asp1549Glu)
c.4323T>G (p.Asp1441Glu)
11g.118502634C>ACA382802893KMT2Ac.6841C>A (p.His2281Asn)
c.6832C>A (p.His2278Asn)
c.781C>A (p.His261Asn)
c.1039C>A (p.His347Asn)
c.6814C>A (p.His2272Asn)
c.6733C>A (p.His2245Asn)
n.6084C>A
c.6742C>A (p.His2248Asn)
c.6619C>A (p.His2207Asn)
n.869C>A
c.4225C>A (p.His1409Asn)
c.6838C>A (p.His2280Asn)
c.4648C>A (p.His1550Asn)
c.4324C>A (p.His1442Asn)
11g.118502634C>GCA382802895KMT2Ac.6841C>G (p.His2281Asp)
c.6832C>G (p.His2278Asp)
c.781C>G (p.His261Asp)
c.1039C>G (p.His347Asp)
c.6814C>G (p.His2272Asp)
c.6733C>G (p.His2245Asp)
n.6084C>G
c.6742C>G (p.His2248Asp)
c.6619C>G (p.His2207Asp)
n.869C>G
c.4225C>G (p.His1409Asp)
c.6838C>G (p.His2280Asp)
c.4648C>G (p.His1550Asp)
c.4324C>G (p.His1442Asp)
11g.118502634C>TCA382802897KMT2Ac.6841C>T (p.His2281Tyr)
c.6832C>T (p.His2278Tyr)
c.781C>T (p.His261Tyr)
c.1039C>T (p.His347Tyr)
c.6814C>T (p.His2272Tyr)
c.6733C>T (p.His2245Tyr)
n.6084C>T
c.6742C>T (p.His2248Tyr)
c.6619C>T (p.His2207Tyr)
n.869C>T
c.4225C>T (p.His1409Tyr)
c.6838C>T (p.His2280Tyr)
c.4648C>T (p.His1550Tyr)
c.4324C>T (p.His1442Tyr)
11g.118502635A>CCA382802898KMT2Ac.6842A>C (p.His2281Pro)
c.6833A>C (p.His2278Pro)
c.782A>C (p.His261Pro)
c.1040A>C (p.His347Pro)
c.6815A>C (p.His2272Pro)
c.6734A>C (p.His2245Pro)
n.6085A>C
c.6743A>C (p.His2248Pro)
c.6620A>C (p.His2207Pro)
n.870A>C
c.4226A>C (p.His1409Pro)
c.6839A>C (p.His2280Pro)
c.4649A>C (p.His1550Pro)
c.4325A>C (p.His1442Pro)
11g.118502635A>GCA382802901KMT2Ac.6842A>G (p.His2281Arg)
c.6833A>G (p.His2278Arg)
c.782A>G (p.His261Arg)
c.1040A>G (p.His347Arg)
c.6815A>G (p.His2272Arg)
c.6734A>G (p.His2245Arg)
n.6085A>G
c.6743A>G (p.His2248Arg)
c.6620A>G (p.His2207Arg)
n.870A>G
c.4226A>G (p.His1409Arg)
c.6839A>G (p.His2280Arg)
c.4649A>G (p.His1550Arg)
c.4325A>G (p.His1442Arg)
11g.118502635A>TCA382802902KMT2Ac.6842A>T (p.His2281Leu)
c.6833A>T (p.His2278Leu)
c.782A>T (p.His261Leu)
c.1040A>T (p.His347Leu)
c.6815A>T (p.His2272Leu)
c.6734A>T (p.His2245Leu)
n.6085A>T
c.6743A>T (p.His2248Leu)
c.6620A>T (p.His2207Leu)
n.870A>T
c.4226A>T (p.His1409Leu)
c.6839A>T (p.His2280Leu)
c.4649A>T (p.His1550Leu)
c.4325A>T (p.His1442Leu)
dbSNP
11g.118502636T>ACA382802904KMT2Ac.6843T>A (p.His2281Gln)
c.6834T>A (p.His2278Gln)
c.783T>A (p.His261Gln)
c.1041T>A (p.His347Gln)
c.6816T>A (p.His2272Gln)
c.6735T>A (p.His2245Gln)
n.6086T>A
c.6744T>A (p.His2248Gln)
c.6621T>A (p.His2207Gln)
n.871T>A
c.4227T>A (p.His1409Gln)
c.6840T>A (p.His2280Gln)
c.4650T>A (p.His1550Gln)
c.4326T>A (p.His1442Gln)
11g.118502636T>CCA477359166KMT2Ac.6843T>C (p.His2281=)
c.6834T>C (p.His2278=)
c.783T>C (p.His261=)
c.1041T>C (p.His347=)
c.6816T>C (p.His2272=)
c.6735T>C (p.His2245=)
n.6086T>C
c.6744T>C (p.His2248=)
c.6621T>C (p.His2207=)
n.871T>C
c.4227T>C (p.His1409=)
c.6840T>C (p.His2280=)
c.4650T>C (p.His1550=)
c.4326T>C (p.His1442=)
gnomAD v4
11g.118502636T>GCA382802905KMT2Ac.6843T>G (p.His2281Gln)
c.6834T>G (p.His2278Gln)
c.783T>G (p.His261Gln)
c.1041T>G (p.His347Gln)
c.6816T>G (p.His2272Gln)
c.6735T>G (p.His2245Gln)
n.6086T>G
c.6744T>G (p.His2248Gln)
c.6621T>G (p.His2207Gln)
n.871T>G
c.4227T>G (p.His1409Gln)
c.6840T>G (p.His2280Gln)
c.4650T>G (p.His1550Gln)
c.4326T>G (p.His1442Gln)
11g.118502637G>ACA6304306KMT2Ac.6844G>A (p.Val2282Ile)
c.6835G>A (p.Val2279Ile)
c.784G>A (p.Val262Ile)
c.1042G>A (p.Val348Ile)
c.6817G>A (p.Val2273Ile)
c.6736G>A (p.Val2246Ile)
n.6087G>A
c.6745G>A (p.Val2249Ile)
c.6622G>A (p.Val2208Ile)
n.872G>A
c.4228G>A (p.Val1410Ile)
c.6841G>A (p.Val2281Ile)
c.4651G>A (p.Val1551Ile)
c.4327G>A (p.Val1443Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502637G>CCA382802908KMT2Ac.6844G>C (p.Val2282Leu)
c.6835G>C (p.Val2279Leu)
c.784G>C (p.Val262Leu)
c.1042G>C (p.Val348Leu)
c.6817G>C (p.Val2273Leu)
c.6736G>C (p.Val2246Leu)
n.6087G>C
c.6745G>C (p.Val2249Leu)
c.6622G>C (p.Val2208Leu)
n.872G>C
c.4228G>C (p.Val1410Leu)
c.6841G>C (p.Val2281Leu)
c.4651G>C (p.Val1551Leu)
c.4327G>C (p.Val1443Leu)
11g.118502637G=CA2003526585KMT2Ac.6844G= (p.Val2282=)
c.6835G= (p.Val2279=)
c.784G= (p.Val262=)
c.1042G= (p.Val348=)
c.6817G= (p.Val2273=)
c.6736G= (p.Val2246=)
n.6087G=
c.6745G= (p.Val2249=)
c.6622G= (p.Val2208=)
n.872G=
c.4228G= (p.Val1410=)
c.6841G= (p.Val2281=)
c.4651G= (p.Val1551=)
c.4327G= (p.Val1443=)
11g.118502637G>TCA382802910KMT2Ac.6844G>T (p.Val2282Phe)
c.6835G>T (p.Val2279Phe)
c.784G>T (p.Val262Phe)
c.1042G>T (p.Val348Phe)
c.6817G>T (p.Val2273Phe)
c.6736G>T (p.Val2246Phe)
n.6087G>T
c.6745G>T (p.Val2249Phe)
c.6622G>T (p.Val2208Phe)
n.872G>T
c.4228G>T (p.Val1410Phe)
c.6841G>T (p.Val2281Phe)
c.4651G>T (p.Val1551Phe)
c.4327G>T (p.Val1443Phe)
11g.118502638T>ACA382802911KMT2Ac.6845T>A (p.Val2282Asp)
c.6836T>A (p.Val2279Asp)
c.785T>A (p.Val262Asp)
c.1043T>A (p.Val348Asp)
c.6818T>A (p.Val2273Asp)
c.6737T>A (p.Val2246Asp)
n.6088T>A
c.6746T>A (p.Val2249Asp)
c.6623T>A (p.Val2208Asp)
n.873T>A
c.4229T>A (p.Val1410Asp)
c.6842T>A (p.Val2281Asp)
c.4652T>A (p.Val1551Asp)
c.4328T>A (p.Val1443Asp)
11g.118502638T>CCA382802913KMT2Ac.6845T>C (p.Val2282Ala)
c.6836T>C (p.Val2279Ala)
c.785T>C (p.Val262Ala)
c.1043T>C (p.Val348Ala)
c.6818T>C (p.Val2273Ala)
c.6737T>C (p.Val2246Ala)
n.6088T>C
c.6746T>C (p.Val2249Ala)
c.6623T>C (p.Val2208Ala)
n.873T>C
c.4229T>C (p.Val1410Ala)
c.6842T>C (p.Val2281Ala)
c.4652T>C (p.Val1551Ala)
c.4328T>C (p.Val1443Ala)
11g.118502638T>GCA382802912KMT2Ac.6845T>G (p.Val2282Gly)
c.6836T>G (p.Val2279Gly)
c.785T>G (p.Val262Gly)
c.1043T>G (p.Val348Gly)
c.6818T>G (p.Val2273Gly)
c.6737T>G (p.Val2246Gly)
n.6088T>G
c.6746T>G (p.Val2249Gly)
c.6623T>G (p.Val2208Gly)
n.873T>G
c.4229T>G (p.Val1410Gly)
c.6842T>G (p.Val2281Gly)
c.4652T>G (p.Val1551Gly)
c.4328T>G (p.Val1443Gly)
COSMIC COSMIC
11g.118502639C>ACA477359167KMT2Ac.6846C>A (p.Val2282=)
c.6837C>A (p.Val2279=)
c.786C>A (p.Val262=)
c.1044C>A (p.Val348=)
c.6819C>A (p.Val2273=)
c.6738C>A (p.Val2246=)
n.6089C>A
c.6747C>A (p.Val2249=)
c.6624C>A (p.Val2208=)
n.874C>A
c.4230C>A (p.Val1410=)
c.6843C>A (p.Val2281=)
c.4653C>A (p.Val1551=)
c.4329C>A (p.Val1443=)
11g.118502639C>GCA477359168KMT2Ac.6846C>G (p.Val2282=)
c.6837C>G (p.Val2279=)
c.786C>G (p.Val262=)
c.1044C>G (p.Val348=)
c.6819C>G (p.Val2273=)
c.6738C>G (p.Val2246=)
n.6089C>G
c.6747C>G (p.Val2249=)
c.6624C>G (p.Val2208=)
n.874C>G
c.4230C>G (p.Val1410=)
c.6843C>G (p.Val2281=)
c.4653C>G (p.Val1551=)
c.4329C>G (p.Val1443=)
dbSNP
11g.118502639C>TCA477359169KMT2Ac.6846C>T (p.Val2282=)
c.6837C>T (p.Val2279=)
c.786C>T (p.Val262=)
c.1044C>T (p.Val348=)
c.6819C>T (p.Val2273=)
c.6738C>T (p.Val2246=)
n.6089C>T
c.6747C>T (p.Val2249=)
c.6624C>T (p.Val2208=)
n.874C>T
c.4230C>T (p.Val1410=)
c.6843C>T (p.Val2281=)
c.4653C>T (p.Val1551=)
c.4329C>T (p.Val1443=)
11g.118502640T>ACA382802914KMT2Ac.6847T>A (p.Leu2283Ile)
c.6838T>A (p.Leu2280Ile)
c.787T>A (p.Leu263Ile)
c.1045T>A (p.Leu349Ile)
c.6820T>A (p.Leu2274Ile)
c.6739T>A (p.Leu2247Ile)
n.6090T>A
c.6748T>A (p.Leu2250Ile)
c.6625T>A (p.Leu2209Ile)
n.875T>A
c.4231T>A (p.Leu1411Ile)
c.6844T>A (p.Leu2282Ile)
c.4654T>A (p.Leu1552Ile)
c.4330T>A (p.Leu1444Ile)
11g.118502640T>CCA477359170KMT2Ac.6847T>C (p.Leu2283=)
c.6838T>C (p.Leu2280=)
c.787T>C (p.Leu263=)
c.1045T>C (p.Leu349=)
c.6820T>C (p.Leu2274=)
c.6739T>C (p.Leu2247=)
n.6090T>C
c.6748T>C (p.Leu2250=)
c.6625T>C (p.Leu2209=)
n.875T>C
c.4231T>C (p.Leu1411=)
c.6844T>C (p.Leu2282=)
c.4654T>C (p.Leu1552=)
c.4330T>C (p.Leu1444=)
11g.118502640T>GCA382802915KMT2Ac.6847T>G (p.Leu2283Val)
c.6838T>G (p.Leu2280Val)
c.787T>G (p.Leu263Val)
c.1045T>G (p.Leu349Val)
c.6820T>G (p.Leu2274Val)
c.6739T>G (p.Leu2247Val)
n.6090T>G
c.6748T>G (p.Leu2250Val)
c.6625T>G (p.Leu2209Val)
n.875T>G
c.4231T>G (p.Leu1411Val)
c.6844T>G (p.Leu2282Val)
c.4654T>G (p.Leu1552Val)
c.4330T>G (p.Leu1444Val)
11g.118502641T>ACA382802916KMT2Ac.6848T>A (p.Leu2283Ter)
c.6839T>A (p.Leu2280Ter)
c.788T>A (p.Leu263Ter)
c.1046T>A (p.Leu349Ter)
c.6821T>A (p.Leu2274Ter)
c.6740T>A (p.Leu2247Ter)
n.6091T>A
c.6749T>A (p.Leu2250Ter)
c.6626T>A (p.Leu2209Ter)
n.876T>A
c.4232T>A (p.Leu1411Ter)
c.6845T>A (p.Leu2282Ter)
c.4655T>A (p.Leu1552Ter)
c.4331T>A (p.Leu1444Ter)
11g.118502641T>CCA382802917KMT2Ac.6848T>C (p.Leu2283Ser)
c.6839T>C (p.Leu2280Ser)
c.788T>C (p.Leu263Ser)
c.1046T>C (p.Leu349Ser)
c.6821T>C (p.Leu2274Ser)
c.6740T>C (p.Leu2247Ser)
n.6091T>C
c.6749T>C (p.Leu2250Ser)
c.6626T>C (p.Leu2209Ser)
n.876T>C
c.4232T>C (p.Leu1411Ser)
c.6845T>C (p.Leu2282Ser)
c.4655T>C (p.Leu1552Ser)
c.4331T>C (p.Leu1444Ser)
11g.118502641T>GCA382802918KMT2Ac.6848T>G (p.Leu2283Ter)
c.6839T>G (p.Leu2280Ter)
c.788T>G (p.Leu263Ter)
c.1046T>G (p.Leu349Ter)
c.6821T>G (p.Leu2274Ter)
c.6740T>G (p.Leu2247Ter)
n.6091T>G
c.6749T>G (p.Leu2250Ter)
c.6626T>G (p.Leu2209Ter)
n.876T>G
c.4232T>G (p.Leu1411Ter)
c.6845T>G (p.Leu2282Ter)
c.4655T>G (p.Leu1552Ter)
c.4331T>G (p.Leu1444Ter)
11g.118502642A>CCA382802919KMT2Ac.6849A>C (p.Leu2283Phe)
c.6840A>C (p.Leu2280Phe)
c.789A>C (p.Leu263Phe)
c.1047A>C (p.Leu349Phe)
c.6822A>C (p.Leu2274Phe)
c.6741A>C (p.Leu2247Phe)
n.6092A>C
c.6750A>C (p.Leu2250Phe)
c.6627A>C (p.Leu2209Phe)
n.877A>C
c.4233A>C (p.Leu1411Phe)
c.6846A>C (p.Leu2282Phe)
c.4656A>C (p.Leu1552Phe)
c.4332A>C (p.Leu1444Phe)
11g.118502642A>GCA477359171KMT2Ac.6849A>G (p.Leu2283=)
c.6840A>G (p.Leu2280=)
c.789A>G (p.Leu263=)
c.1047A>G (p.Leu349=)
c.6822A>G (p.Leu2274=)
c.6741A>G (p.Leu2247=)
n.6092A>G
c.6750A>G (p.Leu2250=)
c.6627A>G (p.Leu2209=)
n.877A>G
c.4233A>G (p.Leu1411=)
c.6846A>G (p.Leu2282=)
c.4656A>G (p.Leu1552=)
c.4332A>G (p.Leu1444=)
11g.118502642A>TCA382802920KMT2Ac.6849A>T (p.Leu2283Phe)
c.6840A>T (p.Leu2280Phe)
c.789A>T (p.Leu263Phe)
c.1047A>T (p.Leu349Phe)
c.6822A>T (p.Leu2274Phe)
c.6741A>T (p.Leu2247Phe)
n.6092A>T
c.6750A>T (p.Leu2250Phe)
c.6627A>T (p.Leu2209Phe)
n.877A>T
c.4233A>T (p.Leu1411Phe)
c.6846A>T (p.Leu2282Phe)
c.4656A>T (p.Leu1552Phe)
c.4332A>T (p.Leu1444Phe)
11g.118502643G>ACA382802921KMT2Ac.6850G>A (p.Gly2284Arg)
c.6841G>A (p.Gly2281Arg)
c.790G>A (p.Gly264Arg)
c.1048G>A (p.Gly350Arg)
c.6823G>A (p.Gly2275Arg)
c.6742G>A (p.Gly2248Arg)
n.6093G>A
c.6751G>A (p.Gly2251Arg)
c.6628G>A (p.Gly2210Arg)
n.878G>A
c.4234G>A (p.Gly1412Arg)
c.6847G>A (p.Gly2283Arg)
c.4657G>A (p.Gly1553Arg)
c.4333G>A (p.Gly1445Arg)
gnomAD v4
11g.118502643G>CCA382802922KMT2Ac.6850G>C (p.Gly2284Arg)
c.6841G>C (p.Gly2281Arg)
c.790G>C (p.Gly264Arg)
c.1048G>C (p.Gly350Arg)
c.6823G>C (p.Gly2275Arg)
c.6742G>C (p.Gly2248Arg)
n.6093G>C
c.6751G>C (p.Gly2251Arg)
c.6628G>C (p.Gly2210Arg)
n.878G>C
c.4234G>C (p.Gly1412Arg)
c.6847G>C (p.Gly2283Arg)
c.4657G>C (p.Gly1553Arg)
c.4333G>C (p.Gly1445Arg)
11g.118502643G>TCA382802923KMT2Ac.6850G>T (p.Gly2284Trp)
c.6841G>T (p.Gly2281Trp)
c.790G>T (p.Gly264Trp)
c.1048G>T (p.Gly350Trp)
c.6823G>T (p.Gly2275Trp)
c.6742G>T (p.Gly2248Trp)
n.6093G>T
c.6751G>T (p.Gly2251Trp)
c.6628G>T (p.Gly2210Trp)
n.878G>T
c.4234G>T (p.Gly1412Trp)
c.6847G>T (p.Gly2283Trp)
c.4657G>T (p.Gly1553Trp)
c.4333G>T (p.Gly1445Trp)
11g.118502644G>ACA382802926KMT2Ac.6851G>A (p.Gly2284Glu)
c.6842G>A (p.Gly2281Glu)
c.791G>A (p.Gly264Glu)
c.1049G>A (p.Gly350Glu)
c.6824G>A (p.Gly2275Glu)
c.6743G>A (p.Gly2248Glu)
n.6094G>A
c.6752G>A (p.Gly2251Glu)
c.6629G>A (p.Gly2210Glu)
n.879G>A
c.4235G>A (p.Gly1412Glu)
c.6848G>A (p.Gly2283Glu)
c.4658G>A (p.Gly1553Glu)
c.4334G>A (p.Gly1445Glu)
gnomAD v4
11g.118502644G>CCA382802925KMT2Ac.6851G>C (p.Gly2284Ala)
c.6842G>C (p.Gly2281Ala)
c.791G>C (p.Gly264Ala)
c.1049G>C (p.Gly350Ala)
c.6824G>C (p.Gly2275Ala)
c.6743G>C (p.Gly2248Ala)
n.6094G>C
c.6752G>C (p.Gly2251Ala)
c.6629G>C (p.Gly2210Ala)
n.879G>C
c.4235G>C (p.Gly1412Ala)
c.6848G>C (p.Gly2283Ala)
c.4658G>C (p.Gly1553Ala)
c.4334G>C (p.Gly1445Ala)
dbSNP gnomAD v2 gnomAD v4
11g.118502644G=CA2003526589KMT2Ac.6851G= (p.Gly2284=)
c.6842G= (p.Gly2281=)
c.791G= (p.Gly264=)
c.1049G= (p.Gly350=)
c.6824G= (p.Gly2275=)
c.6743G= (p.Gly2248=)
n.6094G=
c.6752G= (p.Gly2251=)
c.6629G= (p.Gly2210=)
n.879G=
c.4235G= (p.Gly1412=)
c.6848G= (p.Gly2283=)
c.4658G= (p.Gly1553=)
c.4334G= (p.Gly1445=)
11g.118502644G>TCA382802924KMT2Ac.6851G>T (p.Gly2284Val)
c.6842G>T (p.Gly2281Val)
c.791G>T (p.Gly264Val)
c.1049G>T (p.Gly350Val)
c.6824G>T (p.Gly2275Val)
c.6743G>T (p.Gly2248Val)
n.6094G>T
c.6752G>T (p.Gly2251Val)
c.6629G>T (p.Gly2210Val)
n.879G>T
c.4235G>T (p.Gly1412Val)
c.6848G>T (p.Gly2283Val)
c.4658G>T (p.Gly1553Val)
c.4334G>T (p.Gly1445Val)
gnomAD v4
11g.118502645G>ACA477359172KMT2Ac.6852G>A (p.Gly2284=)
c.6843G>A (p.Gly2281=)
c.792G>A (p.Gly264=)
c.1050G>A (p.Gly350=)
c.6825G>A (p.Gly2275=)
c.6744G>A (p.Gly2248=)
n.6095G>A
c.6753G>A (p.Gly2251=)
c.6630G>A (p.Gly2210=)
n.880G>A
c.4236G>A (p.Gly1412=)
c.6849G>A (p.Gly2283=)
c.4659G>A (p.Gly1553=)
c.4335G>A (p.Gly1445=)
dbSNP
11g.118502645G>CCA477359173KMT2Ac.6852G>C (p.Gly2284=)
c.6843G>C (p.Gly2281=)
c.792G>C (p.Gly264=)
c.1050G>C (p.Gly350=)
c.6825G>C (p.Gly2275=)
c.6744G>C (p.Gly2248=)
n.6095G>C
c.6753G>C (p.Gly2251=)
c.6630G>C (p.Gly2210=)
n.880G>C
c.4236G>C (p.Gly1412=)
c.6849G>C (p.Gly2283=)
c.4659G>C (p.Gly1553=)
c.4335G>C (p.Gly1445=)
11g.118502645G=CA2003526591KMT2Ac.6852G= (p.Gly2284=)
c.6843G= (p.Gly2281=)
c.792G= (p.Gly264=)
c.1050G= (p.Gly350=)
c.6825G= (p.Gly2275=)
c.6744G= (p.Gly2248=)
n.6095G=
c.6753G= (p.Gly2251=)
c.6630G= (p.Gly2210=)
n.880G=
c.4236G= (p.Gly1412=)
c.6849G= (p.Gly2283=)
c.4659G= (p.Gly1553=)
c.4335G= (p.Gly1445=)
11g.118502645G>TCA6304307KMT2Ac.6852G>T (p.Gly2284=)
c.6843G>T (p.Gly2281=)
c.792G>T (p.Gly264=)
c.1050G>T (p.Gly350=)
c.6825G>T (p.Gly2275=)
c.6744G>T (p.Gly2248=)
n.6095G>T
c.6753G>T (p.Gly2251=)
c.6630G>T (p.Gly2210=)
n.880G>T
c.4236G>T (p.Gly1412=)
c.6849G>T (p.Gly2283=)
c.4659G>T (p.Gly1553=)
c.4335G>T (p.Gly1445=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502646C>ACA382802927KMT2Ac.6853C>A (p.Pro2285Thr)
c.6844C>A (p.Pro2282Thr)
c.793C>A (p.Pro265Thr)
c.1051C>A (p.Pro351Thr)
c.6826C>A (p.Pro2276Thr)
c.6745C>A (p.Pro2249Thr)
n.6096C>A
c.6754C>A (p.Pro2252Thr)
c.6631C>A (p.Pro2211Thr)
n.881C>A
c.4237C>A (p.Pro1413Thr)
c.6850C>A (p.Pro2284Thr)
c.4660C>A (p.Pro1554Thr)
c.4336C>A (p.Pro1446Thr)
11g.118502646C>GCA382802928KMT2Ac.6853C>G (p.Pro2285Ala)
c.6844C>G (p.Pro2282Ala)
c.793C>G (p.Pro265Ala)
c.1051C>G (p.Pro351Ala)
c.6826C>G (p.Pro2276Ala)
c.6745C>G (p.Pro2249Ala)
n.6096C>G
c.6754C>G (p.Pro2252Ala)
c.6631C>G (p.Pro2211Ala)
n.881C>G
c.4237C>G (p.Pro1413Ala)
c.6850C>G (p.Pro2284Ala)
c.4660C>G (p.Pro1554Ala)
c.4336C>G (p.Pro1446Ala)
11g.118502646C>TCA382802929KMT2Ac.6853C>T (p.Pro2285Ser)
c.6844C>T (p.Pro2282Ser)
c.793C>T (p.Pro265Ser)
c.1051C>T (p.Pro351Ser)
c.6826C>T (p.Pro2276Ser)
c.6745C>T (p.Pro2249Ser)
n.6096C>T
c.6754C>T (p.Pro2252Ser)
c.6631C>T (p.Pro2211Ser)
n.881C>T
c.4237C>T (p.Pro1413Ser)
c.6850C>T (p.Pro2284Ser)
c.4660C>T (p.Pro1554Ser)
c.4336C>T (p.Pro1446Ser)
dbSNP
11g.118502647C>ACA382802930KMT2Ac.6854C>A (p.Pro2285Gln)
c.6845C>A (p.Pro2282Gln)
c.794C>A (p.Pro265Gln)
c.1052C>A (p.Pro351Gln)
c.6827C>A (p.Pro2276Gln)
c.6746C>A (p.Pro2249Gln)
n.6097C>A
c.6755C>A (p.Pro2252Gln)
c.6632C>A (p.Pro2211Gln)
n.882C>A
c.4238C>A (p.Pro1413Gln)
c.6851C>A (p.Pro2284Gln)
c.4661C>A (p.Pro1554Gln)
c.4337C>A (p.Pro1446Gln)
11g.118502647C>GCA382802931KMT2Ac.6854C>G (p.Pro2285Arg)
c.6845C>G (p.Pro2282Arg)
c.794C>G (p.Pro265Arg)
c.1052C>G (p.Pro351Arg)
c.6827C>G (p.Pro2276Arg)
c.6746C>G (p.Pro2249Arg)
n.6097C>G
c.6755C>G (p.Pro2252Arg)
c.6632C>G (p.Pro2211Arg)
n.882C>G
c.4238C>G (p.Pro1413Arg)
c.6851C>G (p.Pro2284Arg)
c.4661C>G (p.Pro1554Arg)
c.4337C>G (p.Pro1446Arg)
11g.118502647C>TCA382802932KMT2Ac.6854C>T (p.Pro2285Leu)
c.6845C>T (p.Pro2282Leu)
c.794C>T (p.Pro265Leu)
c.1052C>T (p.Pro351Leu)
c.6827C>T (p.Pro2276Leu)
c.6746C>T (p.Pro2249Leu)
n.6097C>T
c.6755C>T (p.Pro2252Leu)
c.6632C>T (p.Pro2211Leu)
n.882C>T
c.4238C>T (p.Pro1413Leu)
c.6851C>T (p.Pro2284Leu)
c.4661C>T (p.Pro1554Leu)
c.4337C>T (p.Pro1446Leu)
11g.118502648A>CCA477359175KMT2Ac.6855A>C (p.Pro2285=)
c.6846A>C (p.Pro2282=)
c.795A>C (p.Pro265=)
c.1053A>C (p.Pro351=)
c.6828A>C (p.Pro2276=)
c.6747A>C (p.Pro2249=)
n.6098A>C
c.6756A>C (p.Pro2252=)
c.6633A>C (p.Pro2211=)
n.883A>C
c.4239A>C (p.Pro1413=)
c.6852A>C (p.Pro2284=)
c.4662A>C (p.Pro1554=)
c.4338A>C (p.Pro1446=)
11g.118502648A>GCA477359176KMT2Ac.6855A>G (p.Pro2285=)
c.6846A>G (p.Pro2282=)
c.795A>G (p.Pro265=)
c.1053A>G (p.Pro351=)
c.6828A>G (p.Pro2276=)
c.6747A>G (p.Pro2249=)
n.6098A>G
c.6756A>G (p.Pro2252=)
c.6633A>G (p.Pro2211=)
n.883A>G
c.4239A>G (p.Pro1413=)
c.6852A>G (p.Pro2284=)
c.4662A>G (p.Pro1554=)
c.4338A>G (p.Pro1446=)
11g.118502648A>TCA477359174KMT2Ac.6855A>T (p.Pro2285=)
c.6846A>T (p.Pro2282=)
c.795A>T (p.Pro265=)
c.1053A>T (p.Pro351=)
c.6828A>T (p.Pro2276=)
c.6747A>T (p.Pro2249=)
n.6098A>T
c.6756A>T (p.Pro2252=)
c.6633A>T (p.Pro2211=)
n.883A>T
c.4239A>T (p.Pro1413=)
c.6852A>T (p.Pro2284=)
c.4662A>T (p.Pro1554=)
c.4338A>T (p.Pro1446=)
11g.118502649C>ACA382802933KMT2Ac.6856C>A (p.Leu2286Met)
c.6847C>A (p.Leu2283Met)
c.796C>A (p.Leu266Met)
c.1054C>A (p.Leu352Met)
c.6829C>A (p.Leu2277Met)
c.6748C>A (p.Leu2250Met)
n.6099C>A
c.6757C>A (p.Leu2253Met)
c.6634C>A (p.Leu2212Met)
n.884C>A
c.4240C>A (p.Leu1414Met)
c.6853C>A (p.Leu2285Met)
c.4663C>A (p.Leu1555Met)
c.4339C>A (p.Leu1447Met)
11g.118502649C>GCA382802934KMT2Ac.6856C>G (p.Leu2286Val)
c.6847C>G (p.Leu2283Val)
c.796C>G (p.Leu266Val)
c.1054C>G (p.Leu352Val)
c.6829C>G (p.Leu2277Val)
c.6748C>G (p.Leu2250Val)
n.6099C>G
c.6757C>G (p.Leu2253Val)
c.6634C>G (p.Leu2212Val)
n.884C>G
c.4240C>G (p.Leu1414Val)
c.6853C>G (p.Leu2285Val)
c.4663C>G (p.Leu1555Val)
c.4339C>G (p.Leu1447Val)
gnomAD v4
11g.118502649C>TCA477359177KMT2Ac.6856C>T (p.Leu2286=)
c.6847C>T (p.Leu2283=)
c.796C>T (p.Leu266=)
c.1054C>T (p.Leu352=)
c.6829C>T (p.Leu2277=)
c.6748C>T (p.Leu2250=)
n.6099C>T
c.6757C>T (p.Leu2253=)
c.6634C>T (p.Leu2212=)
n.884C>T
c.4240C>T (p.Leu1414=)
c.6853C>T (p.Leu2285=)
c.4663C>T (p.Leu1555=)
c.4339C>T (p.Leu1447=)
gnomAD v4
11g.118502650T>ACA382802935KMT2Ac.6857T>A (p.Leu2286Gln)
c.6848T>A (p.Leu2283Gln)
c.797T>A (p.Leu266Gln)
c.1055T>A (p.Leu352Gln)
c.6830T>A (p.Leu2277Gln)
c.6749T>A (p.Leu2250Gln)
n.6100T>A
c.6758T>A (p.Leu2253Gln)
c.6635T>A (p.Leu2212Gln)
n.885T>A
c.4241T>A (p.Leu1414Gln)
c.6854T>A (p.Leu2285Gln)
c.4664T>A (p.Leu1555Gln)
c.4340T>A (p.Leu1447Gln)
11g.118502650T>CCA382802936KMT2Ac.6857T>C (p.Leu2286Pro)
c.6848T>C (p.Leu2283Pro)
c.797T>C (p.Leu266Pro)
c.1055T>C (p.Leu352Pro)
c.6830T>C (p.Leu2277Pro)
c.6749T>C (p.Leu2250Pro)
n.6100T>C
c.6758T>C (p.Leu2253Pro)
c.6635T>C (p.Leu2212Pro)
n.885T>C
c.4241T>C (p.Leu1414Pro)
c.6854T>C (p.Leu2285Pro)
c.4664T>C (p.Leu1555Pro)
c.4340T>C (p.Leu1447Pro)
ClinVar
11g.118502650T>GCA382802937KMT2Ac.6857T>G (p.Leu2286Arg)
c.6848T>G (p.Leu2283Arg)
c.797T>G (p.Leu266Arg)
c.1055T>G (p.Leu352Arg)
c.6830T>G (p.Leu2277Arg)
c.6749T>G (p.Leu2250Arg)
n.6100T>G
c.6758T>G (p.Leu2253Arg)
c.6635T>G (p.Leu2212Arg)
n.885T>G
c.4241T>G (p.Leu1414Arg)
c.6854T>G (p.Leu2285Arg)
c.4664T>G (p.Leu1555Arg)
c.4340T>G (p.Leu1447Arg)
dbSNP
11g.118502650T=CA2003526593KMT2Ac.6857T= (p.Leu2286=)
c.6848T= (p.Leu2283=)
c.797T= (p.Leu266=)
c.1055T= (p.Leu352=)
c.6830T= (p.Leu2277=)
c.6749T= (p.Leu2250=)
n.6100T=
c.6758T= (p.Leu2253=)
c.6635T= (p.Leu2212=)
n.885T=
c.4241T= (p.Leu1414=)
c.6854T= (p.Leu2285=)
c.4664T= (p.Leu1555=)
c.4340T= (p.Leu1447=)
11g.118502651G>ACA477359180KMT2Ac.6858G>A (p.Leu2286=)
c.6849G>A (p.Leu2283=)
c.798G>A (p.Leu266=)
c.1056G>A (p.Leu352=)
c.6831G>A (p.Leu2277=)
c.6750G>A (p.Leu2250=)
n.6101G>A
c.6759G>A (p.Leu2253=)
c.6636G>A (p.Leu2212=)
n.886G>A
c.4242G>A (p.Leu1414=)
c.6855G>A (p.Leu2285=)
c.4665G>A (p.Leu1555=)
c.4341G>A (p.Leu1447=)
11g.118502651G>CCA477359178KMT2Ac.6858G>C (p.Leu2286=)
c.6849G>C (p.Leu2283=)
c.798G>C (p.Leu266=)
c.1056G>C (p.Leu352=)
c.6831G>C (p.Leu2277=)
c.6750G>C (p.Leu2250=)
n.6101G>C
c.6759G>C (p.Leu2253=)
c.6636G>C (p.Leu2212=)
n.886G>C
c.4242G>C (p.Leu1414=)
c.6855G>C (p.Leu2285=)
c.4665G>C (p.Leu1555=)
c.4341G>C (p.Leu1447=)
11g.118502651G>TCA477359179KMT2Ac.6858G>T (p.Leu2286=)
c.6849G>T (p.Leu2283=)
c.798G>T (p.Leu266=)
c.1056G>T (p.Leu352=)
c.6831G>T (p.Leu2277=)
c.6750G>T (p.Leu2250=)
n.6101G>T
c.6759G>T (p.Leu2253=)
c.6636G>T (p.Leu2212=)
n.886G>T
c.4242G>T (p.Leu1414=)
c.6855G>T (p.Leu2285=)
c.4665G>T (p.Leu1555=)
c.4341G>T (p.Leu1447=)
11g.118502652A=CA2003526596KMT2Ac.6859A= (p.Asn2287=)
c.6850A= (p.Asn2284=)
c.799A= (p.Asn267=)
c.1057A= (p.Asn353=)
c.6832A= (p.Asn2278=)
c.6751A= (p.Asn2251=)
n.6102A=
c.6760A= (p.Asn2254=)
c.6637A= (p.Asn2213=)
n.887A=
c.4243A= (p.Asn1415=)
c.6856A= (p.Asn2286=)
c.4666A= (p.Asn1556=)
c.4342A= (p.Asn1448=)
11g.118502652A>CCA382802939KMT2Ac.6859A>C (p.Asn2287His)
c.6850A>C (p.Asn2284His)
c.799A>C (p.Asn267His)
c.1057A>C (p.Asn353His)
c.6832A>C (p.Asn2278His)
c.6751A>C (p.Asn2251His)
n.6102A>C
c.6760A>C (p.Asn2254His)
c.6637A>C (p.Asn2213His)
n.887A>C
c.4243A>C (p.Asn1415His)
c.6856A>C (p.Asn2286His)
c.4666A>C (p.Asn1556His)
c.4342A>C (p.Asn1448His)
11g.118502652A>GCA382802940KMT2Ac.6859A>G (p.Asn2287Asp)
c.6850A>G (p.Asn2284Asp)
c.799A>G (p.Asn267Asp)
c.1057A>G (p.Asn353Asp)
c.6832A>G (p.Asn2278Asp)
c.6751A>G (p.Asn2251Asp)
n.6102A>G
c.6760A>G (p.Asn2254Asp)
c.6637A>G (p.Asn2213Asp)
n.887A>G
c.4243A>G (p.Asn1415Asp)
c.6856A>G (p.Asn2286Asp)
c.4666A>G (p.Asn1556Asp)
c.4342A>G (p.Asn1448Asp)
11g.118502652A>TCA382802938KMT2Ac.6859A>T (p.Asn2287Tyr)
c.6850A>T (p.Asn2284Tyr)
c.799A>T (p.Asn267Tyr)
c.1057A>T (p.Asn353Tyr)
c.6832A>T (p.Asn2278Tyr)
c.6751A>T (p.Asn2251Tyr)
n.6102A>T
c.6760A>T (p.Asn2254Tyr)
c.6637A>T (p.Asn2213Tyr)
n.887A>T
c.4243A>T (p.Asn1415Tyr)
c.6856A>T (p.Asn2286Tyr)
c.4666A>T (p.Asn1556Tyr)
c.4342A>T (p.Asn1448Tyr)
ClinVar dbSNP
11g.118502653A>CCA382802941KMT2Ac.6860A>C (p.Asn2287Thr)
c.6851A>C (p.Asn2284Thr)
c.800A>C (p.Asn267Thr)
c.1058A>C (p.Asn353Thr)
c.6833A>C (p.Asn2278Thr)
c.6752A>C (p.Asn2251Thr)
n.6103A>C
c.6761A>C (p.Asn2254Thr)
c.6638A>C (p.Asn2213Thr)
n.888A>C
c.4244A>C (p.Asn1415Thr)
c.6857A>C (p.Asn2286Thr)
c.4667A>C (p.Asn1556Thr)
c.4343A>C (p.Asn1448Thr)
11g.118502653A>GCA382802942KMT2Ac.6860A>G (p.Asn2287Ser)
c.6851A>G (p.Asn2284Ser)
c.800A>G (p.Asn267Ser)
c.1058A>G (p.Asn353Ser)
c.6833A>G (p.Asn2278Ser)
c.6752A>G (p.Asn2251Ser)
n.6103A>G
c.6761A>G (p.Asn2254Ser)
c.6638A>G (p.Asn2213Ser)
n.888A>G
c.4244A>G (p.Asn1415Ser)
c.6857A>G (p.Asn2286Ser)
c.4667A>G (p.Asn1556Ser)
c.4343A>G (p.Asn1448Ser)
11g.118502653A>TCA382802943KMT2Ac.6860A>T (p.Asn2287Ile)
c.6851A>T (p.Asn2284Ile)
c.800A>T (p.Asn267Ile)
c.1058A>T (p.Asn353Ile)
c.6833A>T (p.Asn2278Ile)
c.6752A>T (p.Asn2251Ile)
n.6103A>T
c.6761A>T (p.Asn2254Ile)
c.6638A>T (p.Asn2213Ile)
n.888A>T
c.4244A>T (p.Asn1415Ile)
c.6857A>T (p.Asn2286Ile)
c.4667A>T (p.Asn1556Ile)
c.4343A>T (p.Asn1448Ile)
11g.118502654T>ACA382802944KMT2Ac.6861T>A (p.Asn2287Lys)
c.6852T>A (p.Asn2284Lys)
c.801T>A (p.Asn267Lys)
c.1059T>A (p.Asn353Lys)
c.6834T>A (p.Asn2278Lys)
c.6753T>A (p.Asn2251Lys)
n.6104T>A
c.6762T>A (p.Asn2254Lys)
c.6639T>A (p.Asn2213Lys)
n.889T>A
c.4245T>A (p.Asn1415Lys)
c.6858T>A (p.Asn2286Lys)
c.4668T>A (p.Asn1556Lys)
c.4344T>A (p.Asn1448Lys)
11g.118502654T>CCA477359181KMT2Ac.6861T>C (p.Asn2287=)
c.6852T>C (p.Asn2284=)
c.801T>C (p.Asn267=)
c.1059T>C (p.Asn353=)
c.6834T>C (p.Asn2278=)
c.6753T>C (p.Asn2251=)
n.6104T>C
c.6762T>C (p.Asn2254=)
c.6639T>C (p.Asn2213=)
n.889T>C
c.4245T>C (p.Asn1415=)
c.6858T>C (p.Asn2286=)
c.4668T>C (p.Asn1556=)
c.4344T>C (p.Asn1448=)
11g.118502654T>GCA382802945KMT2Ac.6861T>G (p.Asn2287Lys)
c.6852T>G (p.Asn2284Lys)
c.801T>G (p.Asn267Lys)
c.1059T>G (p.Asn353Lys)
c.6834T>G (p.Asn2278Lys)
c.6753T>G (p.Asn2251Lys)
n.6104T>G
c.6762T>G (p.Asn2254Lys)
c.6639T>G (p.Asn2213Lys)
n.889T>G
c.4245T>G (p.Asn1415Lys)
c.6858T>G (p.Asn2286Lys)
c.4668T>G (p.Asn1556Lys)
c.4344T>G (p.Asn1448Lys)
11g.118502655T>ACA382802948KMT2Ac.6862T>A (p.Ser2288Thr)
c.6853T>A (p.Ser2285Thr)
c.802T>A (p.Ser268Thr)
c.1060T>A (p.Ser354Thr)
c.6835T>A (p.Ser2279Thr)
c.6754T>A (p.Ser2252Thr)
n.6105T>A
c.6763T>A (p.Ser2255Thr)
c.6640T>A (p.Ser2214Thr)
n.890T>A
c.4246T>A (p.Ser1416Thr)
c.6859T>A (p.Ser2287Thr)
c.4669T>A (p.Ser1557Thr)
c.4345T>A (p.Ser1449Thr)
11g.118502655T>CCA382802946KMT2Ac.6862T>C (p.Ser2288Pro)
c.6853T>C (p.Ser2285Pro)
c.802T>C (p.Ser268Pro)
c.1060T>C (p.Ser354Pro)
c.6835T>C (p.Ser2279Pro)
c.6754T>C (p.Ser2252Pro)
n.6105T>C
c.6763T>C (p.Ser2255Pro)
c.6640T>C (p.Ser2214Pro)
n.890T>C
c.4246T>C (p.Ser1416Pro)
c.6859T>C (p.Ser2287Pro)
c.4669T>C (p.Ser1557Pro)
c.4345T>C (p.Ser1449Pro)
11g.118502655T>GCA382802947KMT2Ac.6862T>G (p.Ser2288Ala)
c.6853T>G (p.Ser2285Ala)
c.802T>G (p.Ser268Ala)
c.1060T>G (p.Ser354Ala)
c.6835T>G (p.Ser2279Ala)
c.6754T>G (p.Ser2252Ala)
n.6105T>G
c.6763T>G (p.Ser2255Ala)
c.6640T>G (p.Ser2214Ala)
n.890T>G
c.4246T>G (p.Ser1416Ala)
c.6859T>G (p.Ser2287Ala)
c.4669T>G (p.Ser1557Ala)
c.4345T>G (p.Ser1449Ala)
11g.118502656C>ACA16619282KMT2Ac.6863C>A (p.Ser2288Ter)
c.6854C>A (p.Ser2285Ter)
c.803C>A (p.Ser268Ter)
c.1061C>A (p.Ser354Ter)
c.6836C>A (p.Ser2279Ter)
c.6755C>A (p.Ser2252Ter)
n.6106C>A
c.6764C>A (p.Ser2255Ter)
c.6641C>A (p.Ser2214Ter)
n.891C>A
c.4247C>A (p.Ser1416Ter)
c.6860C>A (p.Ser2287Ter)
c.4670C>A (p.Ser1557Ter)
c.4346C>A (p.Ser1449Ter)
ClinVar dbSNP
11g.118502656C=CA2003526601KMT2Ac.6863C= (p.Ser2288=)
c.6854C= (p.Ser2285=)
c.803C= (p.Ser268=)
c.1061C= (p.Ser354=)
c.6836C= (p.Ser2279=)
c.6755C= (p.Ser2252=)
n.6106C=
c.6764C= (p.Ser2255=)
c.6641C= (p.Ser2214=)
n.891C=
c.4247C= (p.Ser1416=)
c.6860C= (p.Ser2287=)
c.4670C= (p.Ser1557=)
c.4346C= (p.Ser1449=)
11g.118502656C>GCA382802949KMT2Ac.6863C>G (p.Ser2288Ter)
c.6854C>G (p.Ser2285Ter)
c.803C>G (p.Ser268Ter)
c.1061C>G (p.Ser354Ter)
c.6836C>G (p.Ser2279Ter)
c.6755C>G (p.Ser2252Ter)
n.6106C>G
c.6764C>G (p.Ser2255Ter)
c.6641C>G (p.Ser2214Ter)
n.891C>G
c.4247C>G (p.Ser1416Ter)
c.6860C>G (p.Ser2287Ter)
c.4670C>G (p.Ser1557Ter)
c.4346C>G (p.Ser1449Ter)
11g.118502656C>TCA382802950KMT2Ac.6863C>T (p.Ser2288Leu)
c.6854C>T (p.Ser2285Leu)
c.803C>T (p.Ser268Leu)
c.1061C>T (p.Ser354Leu)
c.6836C>T (p.Ser2279Leu)
c.6755C>T (p.Ser2252Leu)
n.6106C>T
c.6764C>T (p.Ser2255Leu)
c.6641C>T (p.Ser2214Leu)
n.891C>T
c.4247C>T (p.Ser1416Leu)
c.6860C>T (p.Ser2287Leu)
c.4670C>T (p.Ser1557Leu)
c.4346C>T (p.Ser1449Leu)
11g.118502657A>CCA477359182KMT2Ac.6864A>C (p.Ser2288=)
c.6855A>C (p.Ser2285=)
c.804A>C (p.Ser268=)
c.1062A>C (p.Ser354=)
c.6837A>C (p.Ser2279=)
c.6756A>C (p.Ser2252=)
n.6107A>C
c.6765A>C (p.Ser2255=)
c.6642A>C (p.Ser2214=)
n.892A>C
c.4248A>C (p.Ser1416=)
c.6861A>C (p.Ser2287=)
c.4671A>C (p.Ser1557=)
c.4347A>C (p.Ser1449=)
11g.118502657A>GCA477359183KMT2Ac.6864A>G (p.Ser2288=)
c.6855A>G (p.Ser2285=)
c.804A>G (p.Ser268=)
c.1062A>G (p.Ser354=)
c.6837A>G (p.Ser2279=)
c.6756A>G (p.Ser2252=)
n.6107A>G
c.6765A>G (p.Ser2255=)
c.6642A>G (p.Ser2214=)
n.892A>G
c.4248A>G (p.Ser1416=)
c.6861A>G (p.Ser2287=)
c.4671A>G (p.Ser1557=)
c.4347A>G (p.Ser1449=)
gnomAD v4
11g.118502657A>TCA477359184KMT2Ac.6864A>T (p.Ser2288=)
c.6855A>T (p.Ser2285=)
c.804A>T (p.Ser268=)
c.1062A>T (p.Ser354=)
c.6837A>T (p.Ser2279=)
c.6756A>T (p.Ser2252=)
n.6107A>T
c.6765A>T (p.Ser2255=)
c.6642A>T (p.Ser2214=)
n.892A>T
c.4248A>T (p.Ser1416=)
c.6861A>T (p.Ser2287=)
c.4671A>T (p.Ser1557=)
c.4347A>T (p.Ser1449=)
11g.118502658A>CCA382802951KMT2Ac.6865A>C (p.Ser2289Arg)
c.6856A>C (p.Ser2286Arg)
c.805A>C (p.Ser269Arg)
c.1063A>C (p.Ser355Arg)
c.6838A>C (p.Ser2280Arg)
c.6757A>C (p.Ser2253Arg)
n.6108A>C
c.6766A>C (p.Ser2256Arg)
c.6643A>C (p.Ser2215Arg)
n.893A>C
c.4249A>C (p.Ser1417Arg)
c.6862A>C (p.Ser2288Arg)
c.4672A>C (p.Ser1558Arg)
c.4348A>C (p.Ser1450Arg)
11g.118502658A>GCA382802952KMT2Ac.6865A>G (p.Ser2289Gly)
c.6856A>G (p.Ser2286Gly)
c.805A>G (p.Ser269Gly)
c.1063A>G (p.Ser355Gly)
c.6838A>G (p.Ser2280Gly)
c.6757A>G (p.Ser2253Gly)
n.6108A>G
c.6766A>G (p.Ser2256Gly)
c.6643A>G (p.Ser2215Gly)
n.893A>G
c.4249A>G (p.Ser1417Gly)
c.6862A>G (p.Ser2288Gly)
c.4672A>G (p.Ser1558Gly)
c.4348A>G (p.Ser1450Gly)
11g.118502658A>TCA382802953KMT2Ac.6865A>T (p.Ser2289Cys)
c.6856A>T (p.Ser2286Cys)
c.805A>T (p.Ser269Cys)
c.1063A>T (p.Ser355Cys)
c.6838A>T (p.Ser2280Cys)
c.6757A>T (p.Ser2253Cys)
n.6108A>T
c.6766A>T (p.Ser2256Cys)
c.6643A>T (p.Ser2215Cys)
n.893A>T
c.4249A>T (p.Ser1417Cys)
c.6862A>T (p.Ser2288Cys)
c.4672A>T (p.Ser1558Cys)
c.4348A>T (p.Ser1450Cys)
11g.118502659G>ACA6304308KMT2Ac.6866G>A (p.Ser2289Asn)
c.6857G>A (p.Ser2286Asn)
c.806G>A (p.Ser269Asn)
c.1064G>A (p.Ser355Asn)
c.6839G>A (p.Ser2280Asn)
c.6758G>A (p.Ser2253Asn)
n.6109G>A
c.6767G>A (p.Ser2256Asn)
c.6644G>A (p.Ser2215Asn)
n.894G>A
c.4250G>A (p.Ser1417Asn)
c.6863G>A (p.Ser2288Asn)
c.4673G>A (p.Ser1558Asn)
c.4349G>A (p.Ser1450Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502659G>CCA382802955KMT2Ac.6866G>C (p.Ser2289Thr)
c.6857G>C (p.Ser2286Thr)
c.806G>C (p.Ser269Thr)
c.1064G>C (p.Ser355Thr)
c.6839G>C (p.Ser2280Thr)
c.6758G>C (p.Ser2253Thr)
n.6109G>C
c.6767G>C (p.Ser2256Thr)
c.6644G>C (p.Ser2215Thr)
n.894G>C
c.4250G>C (p.Ser1417Thr)
c.6863G>C (p.Ser2288Thr)
c.4673G>C (p.Ser1558Thr)
c.4349G>C (p.Ser1450Thr)
dbSNP
11g.118502659G=CA2003526608KMT2Ac.6866G= (p.Ser2289=)
c.6857G= (p.Ser2286=)
c.806G= (p.Ser269=)
c.1064G= (p.Ser355=)
c.6839G= (p.Ser2280=)
c.6758G= (p.Ser2253=)
n.6109G=
c.6767G= (p.Ser2256=)
c.6644G= (p.Ser2215=)
n.894G=
c.4250G= (p.Ser1417=)
c.6863G= (p.Ser2288=)
c.4673G= (p.Ser1558=)
c.4349G= (p.Ser1450=)
11g.118502659G>TCA382802954KMT2Ac.6866G>T (p.Ser2289Ile)
c.6857G>T (p.Ser2286Ile)
c.806G>T (p.Ser269Ile)
c.1064G>T (p.Ser355Ile)
c.6839G>T (p.Ser2280Ile)
c.6758G>T (p.Ser2253Ile)
n.6109G>T
c.6767G>T (p.Ser2256Ile)
c.6644G>T (p.Ser2215Ile)
n.894G>T
c.4250G>T (p.Ser1417Ile)
c.6863G>T (p.Ser2288Ile)
c.4673G>T (p.Ser1558Ile)
c.4349G>T (p.Ser1450Ile)
11g.118502660T>ACA382802956KMT2Ac.6867T>A (p.Ser2289Arg)
c.6858T>A (p.Ser2286Arg)
c.807T>A (p.Ser269Arg)
c.1065T>A (p.Ser355Arg)
c.6840T>A (p.Ser2280Arg)
c.6759T>A (p.Ser2253Arg)
n.6110T>A
c.6768T>A (p.Ser2256Arg)
c.6645T>A (p.Ser2215Arg)
n.895T>A
c.4251T>A (p.Ser1417Arg)
c.6864T>A (p.Ser2288Arg)
c.4674T>A (p.Ser1558Arg)
c.4350T>A (p.Ser1450Arg)
11g.118502660T>CCA477359185KMT2Ac.6867T>C (p.Ser2289=)
c.6858T>C (p.Ser2286=)
c.807T>C (p.Ser269=)
c.1065T>C (p.Ser355=)
c.6840T>C (p.Ser2280=)
c.6759T>C (p.Ser2253=)
n.6110T>C
c.6768T>C (p.Ser2256=)
c.6645T>C (p.Ser2215=)
n.895T>C
c.4251T>C (p.Ser1417=)
c.6864T>C (p.Ser2288=)
c.4674T>C (p.Ser1558=)
c.4350T>C (p.Ser1450=)
11g.118502660T>GCA382802957KMT2Ac.6867T>G (p.Ser2289Arg)
c.6858T>G (p.Ser2286Arg)
c.807T>G (p.Ser269Arg)
c.1065T>G (p.Ser355Arg)
c.6840T>G (p.Ser2280Arg)
c.6759T>G (p.Ser2253Arg)
n.6110T>G
c.6768T>G (p.Ser2256Arg)
c.6645T>G (p.Ser2215Arg)
n.895T>G
c.4251T>G (p.Ser1417Arg)
c.6864T>G (p.Ser2288Arg)
c.4674T>G (p.Ser1558Arg)
c.4350T>G (p.Ser1450Arg)
11g.118502661A=CA2003526617KMT2Ac.6868A= (p.Thr2290=)
c.6859A= (p.Thr2287=)
c.808A= (p.Thr270=)
c.1066A= (p.Thr356=)
c.6841A= (p.Thr2281=)
c.6760A= (p.Thr2254=)
n.6111A=
c.6769A= (p.Thr2257=)
c.6646A= (p.Thr2216=)
n.896A=
c.4252A= (p.Thr1418=)
c.6865A= (p.Thr2289=)
c.4675A= (p.Thr1559=)
c.4351A= (p.Thr1451=)
11g.118502661A>CCA382802958KMT2Ac.6868A>C (p.Thr2290Pro)
c.6859A>C (p.Thr2287Pro)
c.808A>C (p.Thr270Pro)
c.1066A>C (p.Thr356Pro)
c.6841A>C (p.Thr2281Pro)
c.6760A>C (p.Thr2254Pro)
n.6111A>C
c.6769A>C (p.Thr2257Pro)
c.6646A>C (p.Thr2216Pro)
n.896A>C
c.4252A>C (p.Thr1418Pro)
c.6865A>C (p.Thr2289Pro)
c.4675A>C (p.Thr1559Pro)
c.4351A>C (p.Thr1451Pro)
11g.118502661A>GCA382802960KMT2Ac.6868A>G (p.Thr2290Ala)
c.6859A>G (p.Thr2287Ala)
c.808A>G (p.Thr270Ala)
c.1066A>G (p.Thr356Ala)
c.6841A>G (p.Thr2281Ala)
c.6760A>G (p.Thr2254Ala)
n.6111A>G
c.6769A>G (p.Thr2257Ala)
c.6646A>G (p.Thr2216Ala)
n.896A>G
c.4252A>G (p.Thr1418Ala)
c.6865A>G (p.Thr2289Ala)
c.4675A>G (p.Thr1559Ala)
c.4351A>G (p.Thr1451Ala)
11g.118502661A>TCA382802959KMT2Ac.6868A>T (p.Thr2290Ser)
c.6859A>T (p.Thr2287Ser)
c.808A>T (p.Thr270Ser)
c.1066A>T (p.Thr356Ser)
c.6841A>T (p.Thr2281Ser)
c.6760A>T (p.Thr2254Ser)
n.6111A>T
c.6769A>T (p.Thr2257Ser)
c.6646A>T (p.Thr2216Ser)
n.896A>T
c.4252A>T (p.Thr1418Ser)
c.6865A>T (p.Thr2289Ser)
c.4675A>T (p.Thr1559Ser)
c.4351A>T (p.Thr1451Ser)
dbSNP gnomAD v3 gnomAD v4
11g.118502662C>ACA382802961KMT2Ac.6869C>A (p.Thr2290Asn)
c.6860C>A (p.Thr2287Asn)
c.809C>A (p.Thr270Asn)
c.1067C>A (p.Thr356Asn)
c.6842C>A (p.Thr2281Asn)
c.6761C>A (p.Thr2254Asn)
n.6112C>A
c.6770C>A (p.Thr2257Asn)
c.6647C>A (p.Thr2216Asn)
n.897C>A
c.4253C>A (p.Thr1418Asn)
c.6866C>A (p.Thr2289Asn)
c.4676C>A (p.Thr1559Asn)
c.4352C>A (p.Thr1451Asn)
11g.118502662C>GCA382802963KMT2Ac.6869C>G (p.Thr2290Ser)
c.6860C>G (p.Thr2287Ser)
c.809C>G (p.Thr270Ser)
c.1067C>G (p.Thr356Ser)
c.6842C>G (p.Thr2281Ser)
c.6761C>G (p.Thr2254Ser)
n.6112C>G
c.6770C>G (p.Thr2257Ser)
c.6647C>G (p.Thr2216Ser)
n.897C>G
c.4253C>G (p.Thr1418Ser)
c.6866C>G (p.Thr2289Ser)
c.4676C>G (p.Thr1559Ser)
c.4352C>G (p.Thr1451Ser)
11g.118502662C>TCA382802962KMT2Ac.6869C>T (p.Thr2290Ile)
c.6860C>T (p.Thr2287Ile)
c.809C>T (p.Thr270Ile)
c.1067C>T (p.Thr356Ile)
c.6842C>T (p.Thr2281Ile)
c.6761C>T (p.Thr2254Ile)
n.6112C>T
c.6770C>T (p.Thr2257Ile)
c.6647C>T (p.Thr2216Ile)
n.897C>T
c.4253C>T (p.Thr1418Ile)
c.6866C>T (p.Thr2289Ile)
c.4676C>T (p.Thr1559Ile)
c.4352C>T (p.Thr1451Ile)
11g.118502663T>ACA477359186KMT2Ac.6870T>A (p.Thr2290=)
c.6861T>A (p.Thr2287=)
c.810T>A (p.Thr270=)
c.1068T>A (p.Thr356=)
c.6843T>A (p.Thr2281=)
c.6762T>A (p.Thr2254=)
n.6113T>A
c.6771T>A (p.Thr2257=)
c.6648T>A (p.Thr2216=)
n.898T>A
c.4254T>A (p.Thr1418=)
c.6867T>A (p.Thr2289=)
c.4677T>A (p.Thr1559=)
c.4353T>A (p.Thr1451=)
11g.118502663T>CCA477359187KMT2Ac.6870T>C (p.Thr2290=)
c.6861T>C (p.Thr2287=)
c.810T>C (p.Thr270=)
c.1068T>C (p.Thr356=)
c.6843T>C (p.Thr2281=)
c.6762T>C (p.Thr2254=)
n.6113T>C
c.6771T>C (p.Thr2257=)
c.6648T>C (p.Thr2216=)
n.898T>C
c.4254T>C (p.Thr1418=)
c.6867T>C (p.Thr2289=)
c.4677T>C (p.Thr1559=)
c.4353T>C (p.Thr1451=)
11g.118502663T>GCA477359188KMT2Ac.6870T>G (p.Thr2290=)
c.6861T>G (p.Thr2287=)
c.810T>G (p.Thr270=)
c.1068T>G (p.Thr356=)
c.6843T>G (p.Thr2281=)
c.6762T>G (p.Thr2254=)
n.6113T>G
c.6771T>G (p.Thr2257=)
c.6648T>G (p.Thr2216=)
n.898T>G
c.4254T>G (p.Thr1418=)
c.6867T>G (p.Thr2289=)
c.4677T>G (p.Thr1559=)
c.4353T>G (p.Thr1451=)
11g.118502664A>CCA382802964KMT2Ac.6871A>C (p.Ser2291Arg)
c.6862A>C (p.Ser2288Arg)
c.811A>C (p.Ser271Arg)
c.1069A>C (p.Ser357Arg)
c.6844A>C (p.Ser2282Arg)
c.6763A>C (p.Ser2255Arg)
n.6114A>C
c.6772A>C (p.Ser2258Arg)
c.6649A>C (p.Ser2217Arg)
n.899A>C
c.4255A>C (p.Ser1419Arg)
c.6868A>C (p.Ser2290Arg)
c.4678A>C (p.Ser1560Arg)
c.4354A>C (p.Ser1452Arg)
11g.118502664A>GCA382802966KMT2Ac.6871A>G (p.Ser2291Gly)
c.6862A>G (p.Ser2288Gly)
c.811A>G (p.Ser271Gly)
c.1069A>G (p.Ser357Gly)
c.6844A>G (p.Ser2282Gly)
c.6763A>G (p.Ser2255Gly)
n.6114A>G
c.6772A>G (p.Ser2258Gly)
c.6649A>G (p.Ser2217Gly)
n.899A>G
c.4255A>G (p.Ser1419Gly)
c.6868A>G (p.Ser2290Gly)
c.4678A>G (p.Ser1560Gly)
c.4354A>G (p.Ser1452Gly)
11g.118502664A>TCA382802965KMT2Ac.6871A>T (p.Ser2291Cys)
c.6862A>T (p.Ser2288Cys)
c.811A>T (p.Ser271Cys)
c.1069A>T (p.Ser357Cys)
c.6844A>T (p.Ser2282Cys)
c.6763A>T (p.Ser2255Cys)
n.6114A>T
c.6772A>T (p.Ser2258Cys)
c.6649A>T (p.Ser2217Cys)
n.899A>T
c.4255A>T (p.Ser1419Cys)
c.6868A>T (p.Ser2290Cys)
c.4678A>T (p.Ser1560Cys)
c.4354A>T (p.Ser1452Cys)
11g.118502665G>ACA382802967KMT2Ac.6872G>A (p.Ser2291Asn)
c.6863G>A (p.Ser2288Asn)
c.812G>A (p.Ser271Asn)
c.1070G>A (p.Ser357Asn)
c.6845G>A (p.Ser2282Asn)
c.6764G>A (p.Ser2255Asn)
n.6115G>A
c.6773G>A (p.Ser2258Asn)
c.6650G>A (p.Ser2217Asn)
n.900G>A
c.4256G>A (p.Ser1419Asn)
c.6869G>A (p.Ser2290Asn)
c.4679G>A (p.Ser1560Asn)
c.4355G>A (p.Ser1452Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118502665G>CCA382802969KMT2Ac.6872G>C (p.Ser2291Thr)
c.6863G>C (p.Ser2288Thr)
c.812G>C (p.Ser271Thr)
c.1070G>C (p.Ser357Thr)
c.6845G>C (p.Ser2282Thr)
c.6764G>C (p.Ser2255Thr)
n.6115G>C
c.6773G>C (p.Ser2258Thr)
c.6650G>C (p.Ser2217Thr)
n.900G>C
c.4256G>C (p.Ser1419Thr)
c.6869G>C (p.Ser2290Thr)
c.4679G>C (p.Ser1560Thr)
c.4355G>C (p.Ser1452Thr)
ClinVar
11g.118502665G=CA2003526621KMT2Ac.6872G= (p.Ser2291=)
c.6863G= (p.Ser2288=)
c.812G= (p.Ser271=)
c.1070G= (p.Ser357=)
c.6845G= (p.Ser2282=)
c.6764G= (p.Ser2255=)
n.6115G=
c.6773G= (p.Ser2258=)
c.6650G= (p.Ser2217=)
n.900G=
c.4256G= (p.Ser1419=)
c.6869G= (p.Ser2290=)
c.4679G= (p.Ser1560=)
c.4355G= (p.Ser1452=)
11g.118502665G>TCA382802968KMT2Ac.6872G>T (p.Ser2291Ile)
c.6863G>T (p.Ser2288Ile)
c.812G>T (p.Ser271Ile)
c.1070G>T (p.Ser357Ile)
c.6845G>T (p.Ser2282Ile)
c.6764G>T (p.Ser2255Ile)
n.6115G>T
c.6773G>T (p.Ser2258Ile)
c.6650G>T (p.Ser2217Ile)
n.900G>T
c.4256G>T (p.Ser1419Ile)
c.6869G>T (p.Ser2290Ile)
c.4679G>T (p.Ser1560Ile)
c.4355G>T (p.Ser1452Ile)
11g.118502666T>ACA382802970KMT2Ac.6873T>A (p.Ser2291Arg)
c.6864T>A (p.Ser2288Arg)
c.813T>A (p.Ser271Arg)
c.1071T>A (p.Ser357Arg)
c.6846T>A (p.Ser2282Arg)
c.6765T>A (p.Ser2255Arg)
n.6116T>A
c.6774T>A (p.Ser2258Arg)
c.6651T>A (p.Ser2217Arg)
n.901T>A
c.4257T>A (p.Ser1419Arg)
c.6870T>A (p.Ser2290Arg)
c.4680T>A (p.Ser1560Arg)
c.4356T>A (p.Ser1452Arg)
dbSNP
11g.118502666T>CCA477359189KMT2Ac.6873T>C (p.Ser2291=)
c.6864T>C (p.Ser2288=)
c.813T>C (p.Ser271=)
c.1071T>C (p.Ser357=)
c.6846T>C (p.Ser2282=)
c.6765T>C (p.Ser2255=)
n.6116T>C
c.6774T>C (p.Ser2258=)
c.6651T>C (p.Ser2217=)
n.901T>C
c.4257T>C (p.Ser1419=)
c.6870T>C (p.Ser2290=)
c.4680T>C (p.Ser1560=)
c.4356T>C (p.Ser1452=)
11g.118502666T>GCA382802971KMT2Ac.6873T>G (p.Ser2291Arg)
c.6864T>G (p.Ser2288Arg)
c.813T>G (p.Ser271Arg)
c.1071T>G (p.Ser357Arg)
c.6846T>G (p.Ser2282Arg)
c.6765T>G (p.Ser2255Arg)
n.6116T>G
c.6774T>G (p.Ser2258Arg)
c.6651T>G (p.Ser2217Arg)
n.901T>G
c.4257T>G (p.Ser1419Arg)
c.6870T>G (p.Ser2290Arg)
c.4680T>G (p.Ser1560Arg)
c.4356T>G (p.Ser1452Arg)
11g.118502667T>ACA382802972KMT2Ac.6874T>A (p.Leu2292Ile)
c.6865T>A (p.Leu2289Ile)
c.814T>A (p.Leu272Ile)
c.1072T>A (p.Leu358Ile)
c.6847T>A (p.Leu2283Ile)
c.6766T>A (p.Leu2256Ile)
n.6117T>A
c.6775T>A (p.Leu2259Ile)
c.6652T>A (p.Leu2218Ile)
n.902T>A
c.4258T>A (p.Leu1420Ile)
c.6871T>A (p.Leu2291Ile)
c.4681T>A (p.Leu1561Ile)
c.4357T>A (p.Leu1453Ile)
11g.118502667T>CCA477359190KMT2Ac.6874T>C (p.Leu2292=)
c.6865T>C (p.Leu2289=)
c.814T>C (p.Leu272=)
c.1072T>C (p.Leu358=)
c.6847T>C (p.Leu2283=)
c.6766T>C (p.Leu2256=)
n.6117T>C
c.6775T>C (p.Leu2259=)
c.6652T>C (p.Leu2218=)
n.902T>C
c.4258T>C (p.Leu1420=)
c.6871T>C (p.Leu2291=)
c.4681T>C (p.Leu1561=)
c.4357T>C (p.Leu1453=)
11g.118502667T>GCA382802973KMT2Ac.6874T>G (p.Leu2292Val)
c.6865T>G (p.Leu2289Val)
c.814T>G (p.Leu272Val)
c.1072T>G (p.Leu358Val)
c.6847T>G (p.Leu2283Val)
c.6766T>G (p.Leu2256Val)
n.6117T>G
c.6775T>G (p.Leu2259Val)
c.6652T>G (p.Leu2218Val)
n.902T>G
c.4258T>G (p.Leu1420Val)
c.6871T>G (p.Leu2291Val)
c.4681T>G (p.Leu1561Val)
c.4357T>G (p.Leu1453Val)

Number of alleles fetched