Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118488614T>ACA382831642KMT2Ac.4432T>A (p.Phe1478Ile)
c.244T>A (p.Phe82Ile)
c.112T>A (p.Phe38Ile)
c.4333T>A (p.Phe1445Ile)
c.4219T>A (p.Phe1407Ile)
c.469T>A (p.Phe157Ile)
c.1816T>A (p.Phe606Ile)
c.2239T>A (p.Phe747Ile)
c.1915T>A (p.Phe639Ile)
11g.118488614T>CCA382831644KMT2Ac.4432T>C (p.Phe1478Leu)
c.244T>C (p.Phe82Leu)
c.112T>C (p.Phe38Leu)
c.4333T>C (p.Phe1445Leu)
c.4219T>C (p.Phe1407Leu)
c.469T>C (p.Phe157Leu)
c.1816T>C (p.Phe606Leu)
c.2239T>C (p.Phe747Leu)
c.1915T>C (p.Phe639Leu)
11g.118488614T>GCA382831643KMT2Ac.4432T>G (p.Phe1478Val)
c.244T>G (p.Phe82Val)
c.112T>G (p.Phe38Val)
c.4333T>G (p.Phe1445Val)
c.4219T>G (p.Phe1407Val)
c.469T>G (p.Phe157Val)
c.1816T>G (p.Phe606Val)
c.2239T>G (p.Phe747Val)
c.1915T>G (p.Phe639Val)
11g.118488614_118488618delCA2616262049KMT2Ac.4432_4436del (p.Phe1478ValfsTer7)
c.244_248del (p.Phe82ValfsTer7)
c.112_116del (p.Phe38ValfsTer7)
c.4333_4337del (p.Phe1445ValfsTer7)
c.4219_4223del (p.Phe1407ValfsTer7)
c.469_473del (p.Phe157ValfsTer7)
c.1816_1820del (p.Phe606ValfsTer7)
c.2239_2243del (p.Phe747ValfsTer7)
c.1915_1919del (p.Phe639ValfsTer7)
 gnomAD v4
11g.118488615T>ACA382831645KMT2Ac.4433T>A (p.Phe1478Tyr)
c.245T>A (p.Phe82Tyr)
c.113T>A (p.Phe38Tyr)
c.4334T>A (p.Phe1445Tyr)
c.4220T>A (p.Phe1407Tyr)
c.470T>A (p.Phe157Tyr)
c.1817T>A (p.Phe606Tyr)
c.2240T>A (p.Phe747Tyr)
c.1916T>A (p.Phe639Tyr)
11g.118488615T>CCA382831646KMT2Ac.4433T>C (p.Phe1478Ser)
c.245T>C (p.Phe82Ser)
c.113T>C (p.Phe38Ser)
c.4334T>C (p.Phe1445Ser)
c.4220T>C (p.Phe1407Ser)
c.470T>C (p.Phe157Ser)
c.1817T>C (p.Phe606Ser)
c.2240T>C (p.Phe747Ser)
c.1916T>C (p.Phe639Ser)
11g.118488615T>GCA382831649KMT2Ac.4433T>G (p.Phe1478Cys)
c.245T>G (p.Phe82Cys)
c.113T>G (p.Phe38Cys)
c.4334T>G (p.Phe1445Cys)
c.4220T>G (p.Phe1407Cys)
c.470T>G (p.Phe157Cys)
c.1817T>G (p.Phe606Cys)
c.2240T>G (p.Phe747Cys)
c.1916T>G (p.Phe639Cys)
11g.118488616T>ACA382831651KMT2Ac.4434T>A (p.Phe1478Leu)
c.246T>A (p.Phe82Leu)
c.114T>A (p.Phe38Leu)
c.4335T>A (p.Phe1445Leu)
c.4221T>A (p.Phe1407Leu)
c.471T>A (p.Phe157Leu)
c.1818T>A (p.Phe606Leu)
c.2241T>A (p.Phe747Leu)
c.1917T>A (p.Phe639Leu)
11g.118488616T>CCA477089517KMT2Ac.4434T>C (p.Phe1478=)
c.246T>C (p.Phe82=)
c.114T>C (p.Phe38=)
c.4335T>C (p.Phe1445=)
c.4221T>C (p.Phe1407=)
c.471T>C (p.Phe157=)
c.1818T>C (p.Phe606=)
c.2241T>C (p.Phe747=)
c.1917T>C (p.Phe639=)
11g.118488616T>GCA382831661KMT2Ac.4434T>G (p.Phe1478Leu)
c.246T>G (p.Phe82Leu)
c.114T>G (p.Phe38Leu)
c.4335T>G (p.Phe1445Leu)
c.4221T>G (p.Phe1407Leu)
c.471T>G (p.Phe157Leu)
c.1818T>G (p.Phe606Leu)
c.2241T>G (p.Phe747Leu)
c.1917T>G (p.Phe639Leu)
11g.118488617G>ACA382831664KMT2Ac.4435G>A (p.Val1479Met)
c.247G>A (p.Val83Met)
c.115G>A (p.Val39Met)
c.4336G>A (p.Val1446Met)
c.4222G>A (p.Val1408Met)
c.472G>A (p.Val158Met)
c.1819G>A (p.Val607Met)
c.2242G>A (p.Val748Met)
c.1918G>A (p.Val640Met)
11g.118488617G>CCA382831667KMT2Ac.4435G>C (p.Val1479Leu)
c.247G>C (p.Val83Leu)
c.115G>C (p.Val39Leu)
c.4336G>C (p.Val1446Leu)
c.4222G>C (p.Val1408Leu)
c.472G>C (p.Val158Leu)
c.1819G>C (p.Val607Leu)
c.2242G>C (p.Val748Leu)
c.1918G>C (p.Val640Leu)
11g.118488617G>TCA382831676KMT2Ac.4435G>T (p.Val1479Leu)
c.247G>T (p.Val83Leu)
c.115G>T (p.Val39Leu)
c.4336G>T (p.Val1446Leu)
c.4222G>T (p.Val1408Leu)
c.472G>T (p.Val158Leu)
c.1819G>T (p.Val607Leu)
c.2242G>T (p.Val748Leu)
c.1918G>T (p.Val640Leu)
11g.118488618T>ACA382831677KMT2Ac.4436T>A (p.Val1479Glu)
c.248T>A (p.Val83Glu)
c.116T>A (p.Val39Glu)
c.4337T>A (p.Val1446Glu)
c.4223T>A (p.Val1408Glu)
c.473T>A (p.Val158Glu)
c.1820T>A (p.Val607Glu)
c.2243T>A (p.Val748Glu)
c.1919T>A (p.Val640Glu)
11g.118488618T>CCA382831678KMT2Ac.4436T>C (p.Val1479Ala)
c.248T>C (p.Val83Ala)
c.116T>C (p.Val39Ala)
c.4337T>C (p.Val1446Ala)
c.4223T>C (p.Val1408Ala)
c.473T>C (p.Val158Ala)
c.1820T>C (p.Val607Ala)
c.2243T>C (p.Val748Ala)
c.1919T>C (p.Val640Ala)
11g.118488618T>GCA382831680KMT2Ac.4436T>G (p.Val1479Gly)
c.248T>G (p.Val83Gly)
c.116T>G (p.Val39Gly)
c.4337T>G (p.Val1446Gly)
c.4223T>G (p.Val1408Gly)
c.473T>G (p.Val158Gly)
c.1820T>G (p.Val607Gly)
c.2243T>G (p.Val748Gly)
c.1919T>G (p.Val640Gly)
11g.118488619G>ACA477089518KMT2Ac.4437G>A (p.Val1479=)
c.249G>A (p.Val83=)
c.117G>A (p.Val39=)
c.4338G>A (p.Val1446=)
c.4224G>A (p.Val1408=)
c.474G>A (p.Val158=)
c.1821G>A (p.Val607=)
c.2244G>A (p.Val748=)
c.1920G>A (p.Val640=)
 gnomAD v4
11g.118488619G>CCA477089519KMT2Ac.4437G>C (p.Val1479=)
c.249G>C (p.Val83=)
c.117G>C (p.Val39=)
c.4338G>C (p.Val1446=)
c.4224G>C (p.Val1408=)
c.474G>C (p.Val158=)
c.1821G>C (p.Val607=)
c.2244G>C (p.Val748=)
c.1920G>C (p.Val640=)
11g.118488619G>TCA477089520KMT2Ac.4437G>T (p.Val1479=)
c.249G>T (p.Val83=)
c.117G>T (p.Val39=)
c.4338G>T (p.Val1446=)
c.4224G>T (p.Val1408=)
c.474G>T (p.Val158=)
c.1821G>T (p.Val607=)
c.2244G>T (p.Val748=)
c.1920G>T (p.Val640=)
11g.118488620T>ACA382831682KMT2Ac.4438T>A (p.Tyr1480Asn)
c.250T>A (p.Tyr84Asn)
c.118T>A (p.Tyr40Asn)
c.4339T>A (p.Tyr1447Asn)
c.4225T>A (p.Tyr1409Asn)
c.475T>A (p.Tyr159Asn)
c.1822T>A (p.Tyr608Asn)
c.2245T>A (p.Tyr749Asn)
c.1921T>A (p.Tyr641Asn)
11g.118488620T>CCA382831685KMT2Ac.4438T>C (p.Tyr1480His)
c.250T>C (p.Tyr84His)
c.118T>C (p.Tyr40His)
c.4339T>C (p.Tyr1447His)
c.4225T>C (p.Tyr1409His)
c.475T>C (p.Tyr159His)
c.1822T>C (p.Tyr608His)
c.2245T>C (p.Tyr749His)
c.1921T>C (p.Tyr641His)
11g.118488620T>GCA382831684KMT2Ac.4438T>G (p.Tyr1480Asp)
c.250T>G (p.Tyr84Asp)
c.118T>G (p.Tyr40Asp)
c.4339T>G (p.Tyr1447Asp)
c.4225T>G (p.Tyr1409Asp)
c.475T>G (p.Tyr159Asp)
c.1822T>G (p.Tyr608Asp)
c.2245T>G (p.Tyr749Asp)
c.1921T>G (p.Tyr641Asp)
11g.118488621A>CCA382831687KMT2Ac.4439A>C (p.Tyr1480Ser)
c.251A>C (p.Tyr84Ser)
c.119A>C (p.Tyr40Ser)
c.4340A>C (p.Tyr1447Ser)
c.4226A>C (p.Tyr1409Ser)
c.476A>C (p.Tyr159Ser)
c.1823A>C (p.Tyr608Ser)
c.2246A>C (p.Tyr749Ser)
c.1922A>C (p.Tyr641Ser)
11g.118488621A>GCA382831689KMT2Ac.4439A>G (p.Tyr1480Cys)
c.251A>G (p.Tyr84Cys)
c.119A>G (p.Tyr40Cys)
c.4340A>G (p.Tyr1447Cys)
c.4226A>G (p.Tyr1409Cys)
c.476A>G (p.Tyr159Cys)
c.1823A>G (p.Tyr608Cys)
c.2246A>G (p.Tyr749Cys)
c.1922A>G (p.Tyr641Cys)
11g.118488621A>TCA382831692KMT2Ac.4439A>T (p.Tyr1480Phe)
c.251A>T (p.Tyr84Phe)
c.119A>T (p.Tyr40Phe)
c.4340A>T (p.Tyr1447Phe)
c.4226A>T (p.Tyr1409Phe)
c.476A>T (p.Tyr159Phe)
c.1823A>T (p.Tyr608Phe)
c.2246A>T (p.Tyr749Phe)
c.1922A>T (p.Tyr641Phe)
11g.118488622T>ACA382831694KMT2Ac.4440T>A (p.Tyr1480Ter)
c.252T>A (p.Tyr84Ter)
c.120T>A (p.Tyr40Ter)
c.4341T>A (p.Tyr1447Ter)
c.4227T>A (p.Tyr1409Ter)
c.477T>A (p.Tyr159Ter)
c.1824T>A (p.Tyr608Ter)
c.2247T>A (p.Tyr749Ter)
c.1923T>A (p.Tyr641Ter)
11g.118488622T>CCA477089521KMT2Ac.4440T>C (p.Tyr1480=)
c.252T>C (p.Tyr84=)
c.120T>C (p.Tyr40=)
c.4341T>C (p.Tyr1447=)
c.4227T>C (p.Tyr1409=)
c.477T>C (p.Tyr159=)
c.1824T>C (p.Tyr608=)
c.2247T>C (p.Tyr749=)
c.1923T>C (p.Tyr641=)
11g.118488622T>GCA382831703KMT2Ac.4440T>G (p.Tyr1480Ter)
c.252T>G (p.Tyr84Ter)
c.120T>G (p.Tyr40Ter)
c.4341T>G (p.Tyr1447Ter)
c.4227T>G (p.Tyr1409Ter)
c.477T>G (p.Tyr159Ter)
c.1824T>G (p.Tyr608Ter)
c.2247T>G (p.Tyr749Ter)
c.1923T>G (p.Tyr641Ter)
11g.118488623T>ACA382831706KMT2Ac.4441T>A (p.Cys1481Ser)
c.253T>A (p.Cys85Ser)
c.121T>A (p.Cys41Ser)
c.4342T>A (p.Cys1448Ser)
c.4228T>A (p.Cys1410Ser)
c.478T>A (p.Cys160Ser)
c.1825T>A (p.Cys609Ser)
c.2248T>A (p.Cys750Ser)
c.1924T>A (p.Cys642Ser)
11g.118488623T>CCA279005KMT2Ac.4441T>C (p.Cys1481Arg)
c.253T>C (p.Cys85Arg)
c.121T>C (p.Cys41Arg)
c.4342T>C (p.Cys1448Arg)
c.4228T>C (p.Cys1410Arg)
c.478T>C (p.Cys160Arg)
c.1825T>C (p.Cys609Arg)
c.2248T>C (p.Cys750Arg)
c.1924T>C (p.Cys642Arg)
 ClinVar dbSNP
11g.118488623T>GCA382831712KMT2Ac.4441T>G (p.Cys1481Gly)
c.253T>G (p.Cys85Gly)
c.121T>G (p.Cys41Gly)
c.4342T>G (p.Cys1448Gly)
c.4228T>G (p.Cys1410Gly)
c.478T>G (p.Cys160Gly)
c.1825T>G (p.Cys609Gly)
c.2248T>G (p.Cys750Gly)
c.1924T>G (p.Cys642Gly)
11g.118488623T=CA2003517645KMT2Ac.4441T= (p.Cys1481=)
c.253T= (p.Cys85=)
c.121T= (p.Cys41=)
c.4342T= (p.Cys1448=)
c.4228T= (p.Cys1410=)
c.478T= (p.Cys160=)
c.1825T= (p.Cys609=)
c.2248T= (p.Cys750=)
c.1924T= (p.Cys642=)
11g.118488624G>ACA382831726KMT2Ac.4442G>A (p.Cys1481Tyr)
c.254G>A (p.Cys85Tyr)
c.122G>A (p.Cys41Tyr)
c.4343G>A (p.Cys1448Tyr)
c.4229G>A (p.Cys1410Tyr)
c.479G>A (p.Cys160Tyr)
c.1826G>A (p.Cys609Tyr)
c.2249G>A (p.Cys750Tyr)
c.1925G>A (p.Cys642Tyr)
 ClinVar dbSNP
11g.118488624G>CCA382831730KMT2Ac.4442G>C (p.Cys1481Ser)
c.254G>C (p.Cys85Ser)
c.122G>C (p.Cys41Ser)
c.4343G>C (p.Cys1448Ser)
c.4229G>C (p.Cys1410Ser)
c.479G>C (p.Cys160Ser)
c.1826G>C (p.Cys609Ser)
c.2249G>C (p.Cys750Ser)
c.1925G>C (p.Cys642Ser)
11g.118488624G=CA2003517648KMT2Ac.4442G= (p.Cys1481=)
c.254G= (p.Cys85=)
c.122G= (p.Cys41=)
c.4343G= (p.Cys1448=)
c.4229G= (p.Cys1410=)
c.479G= (p.Cys160=)
c.1826G= (p.Cys609=)
c.2249G= (p.Cys750=)
c.1925G= (p.Cys642=)
11g.118488624G>TCA382831715KMT2Ac.4442G>T (p.Cys1481Phe)
c.254G>T (p.Cys85Phe)
c.122G>T (p.Cys41Phe)
c.4343G>T (p.Cys1448Phe)
c.4229G>T (p.Cys1410Phe)
c.479G>T (p.Cys160Phe)
c.1826G>T (p.Cys609Phe)
c.2249G>T (p.Cys750Phe)
c.1925G>T (p.Cys642Phe)
11g.118488625C>ACA382831733KMT2Ac.4443C>A (p.Cys1481Ter)
c.255C>A (p.Cys85Ter)
c.123C>A (p.Cys41Ter)
c.4344C>A (p.Cys1448Ter)
c.4230C>A (p.Cys1410Ter)
c.480C>A (p.Cys160Ter)
c.1827C>A (p.Cys609Ter)
c.2250C>A (p.Cys750Ter)
c.1926C>A (p.Cys642Ter)
11g.118488625C>GCA382831739KMT2Ac.4443C>G (p.Cys1481Trp)
c.255C>G (p.Cys85Trp)
c.123C>G (p.Cys41Trp)
c.4344C>G (p.Cys1448Trp)
c.4230C>G (p.Cys1410Trp)
c.480C>G (p.Cys160Trp)
c.1827C>G (p.Cys609Trp)
c.2250C>G (p.Cys750Trp)
c.1926C>G (p.Cys642Trp)
11g.118488625C>TCA477089524KMT2Ac.4443C>T (p.Cys1481=)
c.255C>T (p.Cys85=)
c.123C>T (p.Cys41=)
c.4344C>T (p.Cys1448=)
c.4230C>T (p.Cys1410=)
c.480C>T (p.Cys160=)
c.1827C>T (p.Cys609=)
c.2250C>T (p.Cys750=)
c.1926C>T (p.Cys642=)
 dbSNP
11g.118488626C>ACA382831742KMT2Ac.4444C>A (p.Gln1482Lys)
c.256C>A (p.Gln86Lys)
c.124C>A (p.Gln42Lys)
c.4345C>A (p.Gln1449Lys)
c.4231C>A (p.Gln1411Lys)
c.481C>A (p.Gln161Lys)
c.1828C>A (p.Gln610Lys)
c.2251C>A (p.Gln751Lys)
c.1927C>A (p.Gln643Lys)
11g.118488626C>GCA382831745KMT2Ac.4444C>G (p.Gln1482Glu)
c.256C>G (p.Gln86Glu)
c.124C>G (p.Gln42Glu)
c.4345C>G (p.Gln1449Glu)
c.4231C>G (p.Gln1411Glu)
c.481C>G (p.Gln161Glu)
c.1828C>G (p.Gln610Glu)
c.2251C>G (p.Gln751Glu)
c.1927C>G (p.Gln643Glu)
 gnomAD v4
11g.118488626C>TCA382831747KMT2Ac.4444C>T (p.Gln1482Ter)
c.256C>T (p.Gln86Ter)
c.124C>T (p.Gln42Ter)
c.4345C>T (p.Gln1449Ter)
c.4231C>T (p.Gln1411Ter)
c.481C>T (p.Gln161Ter)
c.1828C>T (p.Gln610Ter)
c.2251C>T (p.Gln751Ter)
c.1927C>T (p.Gln643Ter)
11g.118488627A>CCA382831753KMT2Ac.4445A>C (p.Gln1482Pro)
c.257A>C (p.Gln86Pro)
c.125A>C (p.Gln42Pro)
c.4346A>C (p.Gln1449Pro)
c.4232A>C (p.Gln1411Pro)
c.482A>C (p.Gln161Pro)
c.1829A>C (p.Gln610Pro)
c.2252A>C (p.Gln751Pro)
c.1928A>C (p.Gln643Pro)
11g.118488627A>GCA382831749KMT2Ac.4445A>G (p.Gln1482Arg)
c.257A>G (p.Gln86Arg)
c.125A>G (p.Gln42Arg)
c.4346A>G (p.Gln1449Arg)
c.4232A>G (p.Gln1411Arg)
c.482A>G (p.Gln161Arg)
c.1829A>G (p.Gln610Arg)
c.2252A>G (p.Gln751Arg)
c.1928A>G (p.Gln643Arg)
 ClinVar dbSNP
11g.118488627A>TCA382831751KMT2Ac.4445A>T (p.Gln1482Leu)
c.257A>T (p.Gln86Leu)
c.125A>T (p.Gln42Leu)
c.4346A>T (p.Gln1449Leu)
c.4232A>T (p.Gln1411Leu)
c.482A>T (p.Gln161Leu)
c.1829A>T (p.Gln610Leu)
c.2252A>T (p.Gln751Leu)
c.1928A>T (p.Gln643Leu)
11g.118488628A>CCA382831756KMT2Ac.4446A>C (p.Gln1482His)
c.258A>C (p.Gln86His)
c.126A>C (p.Gln42His)
c.4347A>C (p.Gln1449His)
c.4233A>C (p.Gln1411His)
c.483A>C (p.Gln161His)
c.1830A>C (p.Gln610His)
c.2253A>C (p.Gln751His)
c.1929A>C (p.Gln643His)
11g.118488628A>GCA477089526KMT2Ac.4446A>G (p.Gln1482=)
c.258A>G (p.Gln86=)
c.126A>G (p.Gln42=)
c.4347A>G (p.Gln1449=)
c.4233A>G (p.Gln1411=)
c.483A>G (p.Gln161=)
c.1830A>G (p.Gln610=)
c.2253A>G (p.Gln751=)
c.1929A>G (p.Gln643=)
11g.118488628A>TCA382831759KMT2Ac.4446A>T (p.Gln1482His)
c.258A>T (p.Gln86His)
c.126A>T (p.Gln42His)
c.4347A>T (p.Gln1449His)
c.4233A>T (p.Gln1411His)
c.483A>T (p.Gln161His)
c.1830A>T (p.Gln610His)
c.2253A>T (p.Gln751His)
c.1929A>T (p.Gln643His)
11g.118488629G>ACA382831762KMT2Ac.4447G>A (p.Val1483Ile)
c.259G>A (p.Val87Ile)
c.127G>A (p.Val43Ile)
c.4348G>A (p.Val1450Ile)
c.4234G>A (p.Val1412Ile)
c.484G>A (p.Val162Ile)
c.1831G>A (p.Val611Ile)
c.2254G>A (p.Val752Ile)
c.1930G>A (p.Val644Ile)
11g.118488629G>CCA382831765KMT2Ac.4447G>C (p.Val1483Leu)
c.259G>C (p.Val87Leu)
c.127G>C (p.Val43Leu)
c.4348G>C (p.Val1450Leu)
c.4234G>C (p.Val1412Leu)
c.484G>C (p.Val162Leu)
c.1831G>C (p.Val611Leu)
c.2254G>C (p.Val752Leu)
c.1930G>C (p.Val644Leu)

Number of alleles fetched