Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118490150T>ACA382833928KMT2Ac.4696T>A (p.Cys1566Ser)
c.373T>A (p.Cys125Ser)
c.4597T>A (p.Cys1533Ser)
c.4483T>A (p.Cys1495Ser)
c.733T>A (p.Cys245Ser)
c.2080T>A (p.Cys694Ser)
c.4693T>A (p.Cys1565Ser)
c.2503T>A (p.Cys835Ser)
c.2179T>A (p.Cys727Ser)
11g.118490150T>CCA382833930KMT2Ac.4696T>C (p.Cys1566Arg)
c.373T>C (p.Cys125Arg)
c.4597T>C (p.Cys1533Arg)
c.4483T>C (p.Cys1495Arg)
c.733T>C (p.Cys245Arg)
c.2080T>C (p.Cys694Arg)
c.4693T>C (p.Cys1565Arg)
c.2503T>C (p.Cys835Arg)
c.2179T>C (p.Cys727Arg)
 ClinVar gnomAD v3 gnomAD v4
11g.118490150T>GCA382833931KMT2Ac.4696T>G (p.Cys1566Gly)
c.373T>G (p.Cys125Gly)
c.4597T>G (p.Cys1533Gly)
c.4483T>G (p.Cys1495Gly)
c.733T>G (p.Cys245Gly)
c.2080T>G (p.Cys694Gly)
c.4693T>G (p.Cys1565Gly)
c.2503T>G (p.Cys835Gly)
c.2179T>G (p.Cys727Gly)
11g.118490151G>ACA382833932KMT2Ac.4697G>A (p.Cys1566Tyr)
c.374G>A (p.Cys125Tyr)
c.4598G>A (p.Cys1533Tyr)
c.4484G>A (p.Cys1495Tyr)
c.734G>A (p.Cys245Tyr)
c.2081G>A (p.Cys694Tyr)
c.4694G>A (p.Cys1565Tyr)
c.2504G>A (p.Cys835Tyr)
c.2180G>A (p.Cys727Tyr)
 dbSNP
11g.118490151G>CCA382833933KMT2Ac.4697G>C (p.Cys1566Ser)
c.374G>C (p.Cys125Ser)
c.4598G>C (p.Cys1533Ser)
c.4484G>C (p.Cys1495Ser)
c.734G>C (p.Cys245Ser)
c.2081G>C (p.Cys694Ser)
c.4694G>C (p.Cys1565Ser)
c.2504G>C (p.Cys835Ser)
c.2180G>C (p.Cys727Ser)
11g.118490151G=CA2003518474KMT2Ac.4697G= (p.Cys1566=)
c.374G= (p.Cys125=)
c.4598G= (p.Cys1533=)
c.4484G= (p.Cys1495=)
c.734G= (p.Cys245=)
c.2081G= (p.Cys694=)
c.4694G= (p.Cys1565=)
c.2504G= (p.Cys835=)
c.2180G= (p.Cys727=)
11g.118490151G>TCA382833935KMT2Ac.4697G>T (p.Cys1566Phe)
c.374G>T (p.Cys125Phe)
c.4598G>T (p.Cys1533Phe)
c.4484G>T (p.Cys1495Phe)
c.734G>T (p.Cys245Phe)
c.2081G>T (p.Cys694Phe)
c.4694G>T (p.Cys1565Phe)
c.2504G>T (p.Cys835Phe)
c.2180G>T (p.Cys727Phe)
11g.118490152T>ACA382833936KMT2Ac.4698T>A (p.Cys1566Ter)
c.375T>A (p.Cys125Ter)
c.4599T>A (p.Cys1533Ter)
c.4485T>A (p.Cys1495Ter)
c.735T>A (p.Cys245Ter)
c.2082T>A (p.Cys694Ter)
c.4695T>A (p.Cys1565Ter)
c.2505T>A (p.Cys835Ter)
c.2181T>A (p.Cys727Ter)
11g.118490152T>CCA477090538KMT2Ac.4698T>C (p.Cys1566=)
c.375T>C (p.Cys125=)
c.4599T>C (p.Cys1533=)
c.4485T>C (p.Cys1495=)
c.735T>C (p.Cys245=)
c.2082T>C (p.Cys694=)
c.4695T>C (p.Cys1565=)
c.2505T>C (p.Cys835=)
c.2181T>C (p.Cys727=)
11g.118490152T>GCA382833938KMT2Ac.4698T>G (p.Cys1566Trp)
c.375T>G (p.Cys125Trp)
c.4599T>G (p.Cys1533Trp)
c.4485T>G (p.Cys1495Trp)
c.735T>G (p.Cys245Trp)
c.2082T>G (p.Cys694Trp)
c.4695T>G (p.Cys1565Trp)
c.2505T>G (p.Cys835Trp)
c.2181T>G (p.Cys727Trp)
11g.118490152dupCA130074KMT2Ac.4698dup (p.Lys1567Ter)
c.375dup (p.Lys126Ter)
c.4599dup (p.Lys1534Ter)
c.4485dup (p.Lys1496Ter)
c.735dup (p.Lys246Ter)
c.2082dup (p.Lys695Ter)
c.4695dup (p.Lys1566Ter)
c.2505dup (p.Lys836Ter)
c.2181dup (p.Lys728Ter)
 ClinVar dbSNP
11g.118490153A>CCA382833940KMT2Ac.4699A>C (p.Lys1567Gln)
c.376A>C (p.Lys126Gln)
c.4600A>C (p.Lys1534Gln)
c.4486A>C (p.Lys1496Gln)
c.736A>C (p.Lys246Gln)
c.2083A>C (p.Lys695Gln)
c.4696A>C (p.Lys1566Gln)
c.2506A>C (p.Lys836Gln)
c.2182A>C (p.Lys728Gln)
11g.118490153A>GCA382833942KMT2Ac.4699A>G (p.Lys1567Glu)
c.376A>G (p.Lys126Glu)
c.4600A>G (p.Lys1534Glu)
c.4486A>G (p.Lys1496Glu)
c.736A>G (p.Lys246Glu)
c.2083A>G (p.Lys695Glu)
c.4696A>G (p.Lys1566Glu)
c.2506A>G (p.Lys836Glu)
c.2182A>G (p.Lys728Glu)
11g.118490153A>TCA382833944KMT2Ac.4699A>T (p.Lys1567Ter)
c.376A>T (p.Lys126Ter)
c.4600A>T (p.Lys1534Ter)
c.4486A>T (p.Lys1496Ter)
c.736A>T (p.Lys246Ter)
c.2083A>T (p.Lys695Ter)
c.4696A>T (p.Lys1566Ter)
c.2506A>T (p.Lys836Ter)
c.2182A>T (p.Lys728Ter)
11g.118490154A>CCA382833948KMT2Ac.4700A>C (p.Lys1567Thr)
c.377A>C (p.Lys126Thr)
c.4601A>C (p.Lys1534Thr)
c.4487A>C (p.Lys1496Thr)
c.737A>C (p.Lys246Thr)
c.2084A>C (p.Lys695Thr)
c.4697A>C (p.Lys1566Thr)
c.2507A>C (p.Lys836Thr)
c.2183A>C (p.Lys728Thr)
11g.118490154A>GCA382833950KMT2Ac.4700A>G (p.Lys1567Arg)
c.377A>G (p.Lys126Arg)
c.4601A>G (p.Lys1534Arg)
c.4487A>G (p.Lys1496Arg)
c.737A>G (p.Lys246Arg)
c.2084A>G (p.Lys695Arg)
c.4697A>G (p.Lys1566Arg)
c.2507A>G (p.Lys836Arg)
c.2183A>G (p.Lys728Arg)
11g.118490154A>TCA382833947KMT2Ac.4700A>T (p.Lys1567Met)
c.377A>T (p.Lys126Met)
c.4601A>T (p.Lys1534Met)
c.4487A>T (p.Lys1496Met)
c.737A>T (p.Lys246Met)
c.2084A>T (p.Lys695Met)
c.4697A>T (p.Lys1566Met)
c.2507A>T (p.Lys836Met)
c.2183A>T (p.Lys728Met)
11g.118490155G>ACA477090557KMT2Ac.4701G>A (p.Lys1567=)
c.378G>A (p.Lys126=)
c.4602G>A (p.Lys1534=)
c.4488G>A (p.Lys1496=)
c.738G>A (p.Lys246=)
c.2085G>A (p.Lys695=)
c.4698G>A (p.Lys1566=)
c.2508G>A (p.Lys836=)
c.2184G>A (p.Lys728=)
11g.118490155G>CCA382833951KMT2Ac.4701G>C (p.Lys1567Asn)
c.378G>C (p.Lys126Asn)
c.4602G>C (p.Lys1534Asn)
c.4488G>C (p.Lys1496Asn)
c.738G>C (p.Lys246Asn)
c.2085G>C (p.Lys695Asn)
c.4698G>C (p.Lys1566Asn)
c.2508G>C (p.Lys836Asn)
c.2184G>C (p.Lys728Asn)
11g.118490155G>TCA382833952KMT2Ac.4701G>T (p.Lys1567Asn)
c.378G>T (p.Lys126Asn)
c.4602G>T (p.Lys1534Asn)
c.4488G>T (p.Lys1496Asn)
c.738G>T (p.Lys246Asn)
c.2085G>T (p.Lys695Asn)
c.4698G>T (p.Lys1566Asn)
c.2508G>T (p.Lys836Asn)
c.2184G>T (p.Lys728Asn)
11g.118490156A>CCA382833954KMT2Ac.4702A>C (p.Ser1568Arg)
c.379A>C (p.Ser127Arg)
c.4603A>C (p.Ser1535Arg)
c.4489A>C (p.Ser1497Arg)
c.739A>C (p.Ser247Arg)
c.2086A>C (p.Ser696Arg)
c.4699A>C (p.Ser1567Arg)
c.2509A>C (p.Ser837Arg)
c.2185A>C (p.Ser729Arg)
11g.118490156A>GCA382833958KMT2Ac.4702A>G (p.Ser1568Gly)
c.379A>G (p.Ser127Gly)
c.4603A>G (p.Ser1535Gly)
c.4489A>G (p.Ser1497Gly)
c.739A>G (p.Ser247Gly)
c.2086A>G (p.Ser696Gly)
c.4699A>G (p.Ser1567Gly)
c.2509A>G (p.Ser837Gly)
c.2185A>G (p.Ser729Gly)
11g.118490156A>TCA382833956KMT2Ac.4702A>T (p.Ser1568Cys)
c.379A>T (p.Ser127Cys)
c.4603A>T (p.Ser1535Cys)
c.4489A>T (p.Ser1497Cys)
c.739A>T (p.Ser247Cys)
c.2086A>T (p.Ser696Cys)
c.4699A>T (p.Ser1567Cys)
c.2509A>T (p.Ser837Cys)
c.2185A>T (p.Ser729Cys)
11g.118490157G>ACA382833960KMT2Ac.4703G>A (p.Ser1568Asn)
c.380G>A (p.Ser127Asn)
c.4604G>A (p.Ser1535Asn)
c.4490G>A (p.Ser1497Asn)
c.740G>A (p.Ser247Asn)
c.2087G>A (p.Ser696Asn)
c.4700G>A (p.Ser1567Asn)
c.2510G>A (p.Ser837Asn)
c.2186G>A (p.Ser729Asn)
11g.118490157G>CCA382833963KMT2Ac.4703G>C (p.Ser1568Thr)
c.380G>C (p.Ser127Thr)
c.4604G>C (p.Ser1535Thr)
c.4490G>C (p.Ser1497Thr)
c.740G>C (p.Ser247Thr)
c.2087G>C (p.Ser696Thr)
c.4700G>C (p.Ser1567Thr)
c.2510G>C (p.Ser837Thr)
c.2186G>C (p.Ser729Thr)
11g.118490157G>TCA382833962KMT2Ac.4703G>T (p.Ser1568Ile)
c.380G>T (p.Ser127Ile)
c.4604G>T (p.Ser1535Ile)
c.4490G>T (p.Ser1497Ile)
c.740G>T (p.Ser247Ile)
c.2087G>T (p.Ser696Ile)
c.4700G>T (p.Ser1567Ile)
c.2510G>T (p.Ser837Ile)
c.2186G>T (p.Ser729Ile)
11g.118490158C>ACA229530943KMT2Ac.4704C>A (p.Ser1568Arg)
c.381C>A (p.Ser127Arg)
c.4605C>A (p.Ser1535Arg)
c.4491C>A (p.Ser1497Arg)
c.741C>A (p.Ser247Arg)
c.2088C>A (p.Ser696Arg)
c.4701C>A (p.Ser1567Arg)
c.2511C>A (p.Ser837Arg)
c.2187C>A (p.Ser729Arg)
 dbSNP
11g.118490158C=CA2003518476KMT2Ac.4704C= (p.Ser1568=)
c.381C= (p.Ser127=)
c.4605C= (p.Ser1535=)
c.4491C= (p.Ser1497=)
c.741C= (p.Ser247=)
c.2088C= (p.Ser696=)
c.4701C= (p.Ser1567=)
c.2511C= (p.Ser837=)
c.2187C= (p.Ser729=)
11g.118490158C>GCA382833965KMT2Ac.4704C>G (p.Ser1568Arg)
c.381C>G (p.Ser127Arg)
c.4605C>G (p.Ser1535Arg)
c.4491C>G (p.Ser1497Arg)
c.741C>G (p.Ser247Arg)
c.2088C>G (p.Ser696Arg)
c.4701C>G (p.Ser1567Arg)
c.2511C>G (p.Ser837Arg)
c.2187C>G (p.Ser729Arg)
11g.118490158C>TCA477090575KMT2Ac.4704C>T (p.Ser1568=)
c.381C>T (p.Ser127=)
c.4605C>T (p.Ser1535=)
c.4491C>T (p.Ser1497=)
c.741C>T (p.Ser247=)
c.2088C>T (p.Ser696=)
c.4701C>T (p.Ser1567=)
c.2511C>T (p.Ser837=)
c.2187C>T (p.Ser729=)
 dbSNP
11g.118490159T>ACA382833967KMT2Ac.4705T>A (p.Cys1569Ser)
c.382T>A (p.Cys128Ser)
c.4606T>A (p.Cys1536Ser)
c.4492T>A (p.Cys1498Ser)
c.742T>A (p.Cys248Ser)
c.2089T>A (p.Cys697Ser)
c.4702T>A (p.Cys1568Ser)
c.2512T>A (p.Cys838Ser)
c.2188T>A (p.Cys730Ser)
11g.118490159T>CCA382833968KMT2Ac.4705T>C (p.Cys1569Arg)
c.382T>C (p.Cys128Arg)
c.4606T>C (p.Cys1536Arg)
c.4492T>C (p.Cys1498Arg)
c.742T>C (p.Cys248Arg)
c.2089T>C (p.Cys697Arg)
c.4702T>C (p.Cys1568Arg)
c.2512T>C (p.Cys838Arg)
c.2188T>C (p.Cys730Arg)
11g.118490159T>GCA382833970KMT2Ac.4705T>G (p.Cys1569Gly)
c.382T>G (p.Cys128Gly)
c.4606T>G (p.Cys1536Gly)
c.4492T>G (p.Cys1498Gly)
c.742T>G (p.Cys248Gly)
c.2089T>G (p.Cys697Gly)
c.4702T>G (p.Cys1568Gly)
c.2512T>G (p.Cys838Gly)
c.2188T>G (p.Cys730Gly)
11g.118490160G>ACA382833972KMT2Ac.4706G>A (p.Cys1569Tyr)
c.383G>A (p.Cys128Tyr)
c.4607G>A (p.Cys1536Tyr)
c.4493G>A (p.Cys1498Tyr)
c.743G>A (p.Cys248Tyr)
c.2090G>A (p.Cys697Tyr)
c.4703G>A (p.Cys1568Tyr)
c.2513G>A (p.Cys838Tyr)
c.2189G>A (p.Cys730Tyr)
11g.118490160G>CCA382833973KMT2Ac.4706G>C (p.Cys1569Ser)
c.383G>C (p.Cys128Ser)
c.4607G>C (p.Cys1536Ser)
c.4493G>C (p.Cys1498Ser)
c.743G>C (p.Cys248Ser)
c.2090G>C (p.Cys697Ser)
c.4703G>C (p.Cys1568Ser)
c.2513G>C (p.Cys838Ser)
c.2189G>C (p.Cys730Ser)
11g.118490160G>TCA382833975KMT2Ac.4706G>T (p.Cys1569Phe)
c.383G>T (p.Cys128Phe)
c.4607G>T (p.Cys1536Phe)
c.4493G>T (p.Cys1498Phe)
c.743G>T (p.Cys248Phe)
c.2090G>T (p.Cys697Phe)
c.4703G>T (p.Cys1568Phe)
c.2513G>T (p.Cys838Phe)
c.2189G>T (p.Cys730Phe)
11g.118490161T>ACA382833977KMT2Ac.4707T>A (p.Cys1569Ter)
c.384T>A (p.Cys128Ter)
c.4608T>A (p.Cys1536Ter)
c.4494T>A (p.Cys1498Ter)
c.744T>A (p.Cys248Ter)
c.2091T>A (p.Cys697Ter)
c.4704T>A (p.Cys1568Ter)
c.2514T>A (p.Cys838Ter)
c.2190T>A (p.Cys730Ter)
11g.118490161T>CCA477090593KMT2Ac.4707T>C (p.Cys1569=)
c.384T>C (p.Cys128=)
c.4608T>C (p.Cys1536=)
c.4494T>C (p.Cys1498=)
c.744T>C (p.Cys248=)
c.2091T>C (p.Cys697=)
c.4704T>C (p.Cys1568=)
c.2514T>C (p.Cys838=)
c.2190T>C (p.Cys730=)
11g.118490161T>GCA382833979KMT2Ac.4707T>G (p.Cys1569Trp)
c.384T>G (p.Cys128Trp)
c.4608T>G (p.Cys1536Trp)
c.4494T>G (p.Cys1498Trp)
c.744T>G (p.Cys248Trp)
c.2091T>G (p.Cys697Trp)
c.4704T>G (p.Cys1568Trp)
c.2514T>G (p.Cys838Trp)
c.2190T>G (p.Cys730Trp)
11g.118490162G>ACA382833985KMT2Ac.4708G>A (p.Gly1570Arg)
c.385G>A (p.Gly129Arg)
c.4609G>A (p.Gly1537Arg)
c.4495G>A (p.Gly1499Arg)
c.745G>A (p.Gly249Arg)
c.2092G>A (p.Gly698Arg)
c.4705G>A (p.Gly1569Arg)
c.2515G>A (p.Gly839Arg)
c.2191G>A (p.Gly731Arg)
11g.118490162G>CCA382833984KMT2Ac.4708G>C (p.Gly1570Arg)
c.385G>C (p.Gly129Arg)
c.4609G>C (p.Gly1537Arg)
c.4495G>C (p.Gly1499Arg)
c.745G>C (p.Gly249Arg)
c.2092G>C (p.Gly698Arg)
c.4705G>C (p.Gly1569Arg)
c.2515G>C (p.Gly839Arg)
c.2191G>C (p.Gly731Arg)
11g.118490162G>TCA382833982KMT2Ac.4708G>T (p.Gly1570Ter)
c.385G>T (p.Gly129Ter)
c.4609G>T (p.Gly1537Ter)
c.4495G>T (p.Gly1499Ter)
c.745G>T (p.Gly249Ter)
c.2092G>T (p.Gly698Ter)
c.4705G>T (p.Gly1569Ter)
c.2515G>T (p.Gly839Ter)
c.2191G>T (p.Gly731Ter)
11g.118490163G>ACA382833988KMT2Ac.4709G>A (p.Gly1570Glu)
c.386G>A (p.Gly129Glu)
c.4610G>A (p.Gly1537Glu)
c.4496G>A (p.Gly1499Glu)
c.746G>A (p.Gly249Glu)
c.2093G>A (p.Gly698Glu)
c.4706G>A (p.Gly1569Glu)
c.2516G>A (p.Gly839Glu)
c.2192G>A (p.Gly731Glu)
11g.118490163G>CCA382833989KMT2Ac.4709G>C (p.Gly1570Ala)
c.386G>C (p.Gly129Ala)
c.4610G>C (p.Gly1537Ala)
c.4496G>C (p.Gly1499Ala)
c.746G>C (p.Gly249Ala)
c.2093G>C (p.Gly698Ala)
c.4706G>C (p.Gly1569Ala)
c.2516G>C (p.Gly839Ala)
c.2192G>C (p.Gly731Ala)
11g.118490163G>TCA382833990KMT2Ac.4709G>T (p.Gly1570Val)
c.386G>T (p.Gly129Val)
c.4610G>T (p.Gly1537Val)
c.4496G>T (p.Gly1499Val)
c.746G>T (p.Gly249Val)
c.2093G>T (p.Gly698Val)
c.4706G>T (p.Gly1569Val)
c.2516G>T (p.Gly839Val)
c.2192G>T (p.Gly731Val)
11g.118490164A=CA2003518478KMT2Ac.4710A= (p.Gly1570=)
c.387A= (p.Gly129=)
c.4611A= (p.Gly1537=)
c.4497A= (p.Gly1499=)
c.747A= (p.Gly249=)
c.2094A= (p.Gly698=)
c.4707A= (p.Gly1569=)
c.2517A= (p.Gly839=)
c.2193A= (p.Gly731=)
11g.118490164A>CCA477090608KMT2Ac.4710A>C (p.Gly1570=)
c.387A>C (p.Gly129=)
c.4611A>C (p.Gly1537=)
c.4497A>C (p.Gly1499=)
c.747A>C (p.Gly249=)
c.2094A>C (p.Gly698=)
c.4707A>C (p.Gly1569=)
c.2517A>C (p.Gly839=)
c.2193A>C (p.Gly731=)
11g.118490164A>GCA229530948KMT2Ac.4710A>G (p.Gly1570=)
c.387A>G (p.Gly129=)
c.4611A>G (p.Gly1537=)
c.4497A>G (p.Gly1499=)
c.747A>G (p.Gly249=)
c.2094A>G (p.Gly698=)
c.4707A>G (p.Gly1569=)
c.2517A>G (p.Gly839=)
c.2193A>G (p.Gly731=)
 dbSNP
11g.118490164A>TCA6303914KMT2Ac.4710A>T (p.Gly1570=)
c.387A>T (p.Gly129=)
c.4611A>T (p.Gly1537=)
c.4497A>T (p.Gly1499=)
c.747A>T (p.Gly249=)
c.2094A>T (p.Gly698=)
c.4707A>T (p.Gly1569=)
c.2517A>T (p.Gly839=)
c.2193A>T (p.Gly731=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118490165T>ACA382833994KMT2Ac.4711T>A (p.Ser1571Thr)
c.388T>A (p.Ser130Thr)
c.4612T>A (p.Ser1538Thr)
c.4498T>A (p.Ser1500Thr)
c.748T>A (p.Ser250Thr)
c.2095T>A (p.Ser699Thr)
c.4708T>A (p.Ser1570Thr)
c.2518T>A (p.Ser840Thr)
c.2194T>A (p.Ser732Thr)

Number of alleles fetched