Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
11g.118488629G>TCA382831767KMT2Ac.4447G>T (p.Val1483Phe)
c.259G>T (p.Val87Phe)
c.127G>T (p.Val43Phe)
c.4348G>T (p.Val1450Phe)
c.4234G>T (p.Val1412Phe)
c.484G>T (p.Val162Phe)
c.1831G>T (p.Val611Phe)
c.2254G>T (p.Val752Phe)
c.1930G>T (p.Val644Phe)
11g.118488630T>ACA382831772KMT2Ac.4448T>A (p.Val1483Asp)
c.260T>A (p.Val87Asp)
c.128T>A (p.Val43Asp)
c.4349T>A (p.Val1450Asp)
c.4235T>A (p.Val1412Asp)
c.485T>A (p.Val162Asp)
c.1832T>A (p.Val611Asp)
c.2255T>A (p.Val752Asp)
c.1931T>A (p.Val644Asp)
11g.118488630T>CCA382831777KMT2Ac.4448T>C (p.Val1483Ala)
c.260T>C (p.Val87Ala)
c.128T>C (p.Val43Ala)
c.4349T>C (p.Val1450Ala)
c.4235T>C (p.Val1412Ala)
c.485T>C (p.Val162Ala)
c.1832T>C (p.Val611Ala)
c.2255T>C (p.Val752Ala)
c.1931T>C (p.Val644Ala)
11g.118488630T>GCA382831774KMT2Ac.4448T>G (p.Val1483Gly)
c.260T>G (p.Val87Gly)
c.128T>G (p.Val43Gly)
c.4349T>G (p.Val1450Gly)
c.4235T>G (p.Val1412Gly)
c.485T>G (p.Val162Gly)
c.1832T>G (p.Val611Gly)
c.2255T>G (p.Val752Gly)
c.1931T>G (p.Val644Gly)
11g.118488631C>ACA477089527KMT2Ac.4449C>A (p.Val1483=)
c.261C>A (p.Val87=)
c.129C>A (p.Val43=)
c.4350C>A (p.Val1450=)
c.4236C>A (p.Val1412=)
c.486C>A (p.Val162=)
c.1833C>A (p.Val611=)
c.2256C>A (p.Val752=)
c.1932C>A (p.Val644=)
11g.118488631C>GCA477089530KMT2Ac.4449C>G (p.Val1483=)
c.261C>G (p.Val87=)
c.129C>G (p.Val43=)
c.4350C>G (p.Val1450=)
c.4236C>G (p.Val1412=)
c.486C>G (p.Val162=)
c.1833C>G (p.Val611=)
c.2256C>G (p.Val752=)
c.1932C>G (p.Val644=)
11g.118488631C>TCA477089528KMT2Ac.4449C>T (p.Val1483=)
c.261C>T (p.Val87=)
c.129C>T (p.Val43=)
c.4350C>T (p.Val1450=)
c.4236C>T (p.Val1412=)
c.486C>T (p.Val162=)
c.1833C>T (p.Val611=)
c.2256C>T (p.Val752=)
c.1932C>T (p.Val644=)
11g.118488632T>ACA382831780KMT2Ac.4450T>A (p.Cys1484Ser)
c.262T>A (p.Cys88Ser)
c.130T>A (p.Cys44Ser)
c.4351T>A (p.Cys1451Ser)
c.4237T>A (p.Cys1413Ser)
c.487T>A (p.Cys163Ser)
c.1834T>A (p.Cys612Ser)
c.2257T>A (p.Cys753Ser)
c.1933T>A (p.Cys645Ser)
11g.118488632T>CCA382831782KMT2Ac.4450T>C (p.Cys1484Arg)
c.262T>C (p.Cys88Arg)
c.130T>C (p.Cys44Arg)
c.4351T>C (p.Cys1451Arg)
c.4237T>C (p.Cys1413Arg)
c.487T>C (p.Cys163Arg)
c.1834T>C (p.Cys612Arg)
c.2257T>C (p.Cys753Arg)
c.1933T>C (p.Cys645Arg)
11g.118488632T>GCA382831786KMT2Ac.4450T>G (p.Cys1484Gly)
c.262T>G (p.Cys88Gly)
c.130T>G (p.Cys44Gly)
c.4351T>G (p.Cys1451Gly)
c.4237T>G (p.Cys1413Gly)
c.487T>G (p.Cys163Gly)
c.1834T>G (p.Cys612Gly)
c.2257T>G (p.Cys753Gly)
c.1933T>G (p.Cys645Gly)
11g.118488633G>ACA382831790KMT2Ac.4451G>A (p.Cys1484Tyr)
c.263G>A (p.Cys88Tyr)
c.131G>A (p.Cys44Tyr)
c.4352G>A (p.Cys1451Tyr)
c.4238G>A (p.Cys1413Tyr)
c.488G>A (p.Cys163Tyr)
c.1835G>A (p.Cys612Tyr)
c.2258G>A (p.Cys753Tyr)
c.1934G>A (p.Cys645Tyr)
11g.118488633G>CCA382831791KMT2Ac.4451G>C (p.Cys1484Ser)
c.263G>C (p.Cys88Ser)
c.131G>C (p.Cys44Ser)
c.4352G>C (p.Cys1451Ser)
c.4238G>C (p.Cys1413Ser)
c.488G>C (p.Cys163Ser)
c.1835G>C (p.Cys612Ser)
c.2258G>C (p.Cys753Ser)
c.1934G>C (p.Cys645Ser)
11g.118488633G>TCA382831792KMT2Ac.4451G>T (p.Cys1484Phe)
c.263G>T (p.Cys88Phe)
c.131G>T (p.Cys44Phe)
c.4352G>T (p.Cys1451Phe)
c.4238G>T (p.Cys1413Phe)
c.488G>T (p.Cys163Phe)
c.1835G>T (p.Cys612Phe)
c.2258G>T (p.Cys753Phe)
c.1934G>T (p.Cys645Phe)
 ClinVar
11g.118488634T>ACA382831793KMT2Ac.4452T>A (p.Cys1484Ter)
c.264T>A (p.Cys88Ter)
c.132T>A (p.Cys44Ter)
c.4353T>A (p.Cys1451Ter)
c.4239T>A (p.Cys1413Ter)
c.489T>A (p.Cys163Ter)
c.1836T>A (p.Cys612Ter)
c.2259T>A (p.Cys753Ter)
c.1935T>A (p.Cys645Ter)
 dbSNP
11g.118488634T>CCA477089531KMT2Ac.4452T>C (p.Cys1484=)
c.264T>C (p.Cys88=)
c.132T>C (p.Cys44=)
c.4353T>C (p.Cys1451=)
c.4239T>C (p.Cys1413=)
c.489T>C (p.Cys163=)
c.1836T>C (p.Cys612=)
c.2259T>C (p.Cys753=)
c.1935T>C (p.Cys645=)
11g.118488634T>GCA382831794KMT2Ac.4452T>G (p.Cys1484Trp)
c.264T>G (p.Cys88Trp)
c.132T>G (p.Cys44Trp)
c.4353T>G (p.Cys1451Trp)
c.4239T>G (p.Cys1413Trp)
c.489T>G (p.Cys163Trp)
c.1836T>G (p.Cys612Trp)
c.2259T>G (p.Cys753Trp)
c.1935T>G (p.Cys645Trp)
11g.118488635T>ACA382831795KMT2Ac.4453T>A (p.Cys1485Ser)
c.265T>A (p.Cys89Ser)
c.133T>A (p.Cys45Ser)
c.4354T>A (p.Cys1452Ser)
c.4240T>A (p.Cys1414Ser)
c.490T>A (p.Cys164Ser)
c.1837T>A (p.Cys613Ser)
c.2260T>A (p.Cys754Ser)
c.1936T>A (p.Cys646Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.118488635T>CCA382831797KMT2Ac.4453T>C (p.Cys1485Arg)
c.265T>C (p.Cys89Arg)
c.133T>C (p.Cys45Arg)
c.4354T>C (p.Cys1452Arg)
c.4240T>C (p.Cys1414Arg)
c.490T>C (p.Cys164Arg)
c.1837T>C (p.Cys613Arg)
c.2260T>C (p.Cys754Arg)
c.1936T>C (p.Cys646Arg)
11g.118488635T>GCA382831799KMT2Ac.4453T>G (p.Cys1485Gly)
c.265T>G (p.Cys89Gly)
c.133T>G (p.Cys45Gly)
c.4354T>G (p.Cys1452Gly)
c.4240T>G (p.Cys1414Gly)
c.490T>G (p.Cys164Gly)
c.1837T>G (p.Cys613Gly)
c.2260T>G (p.Cys754Gly)
c.1936T>G (p.Cys646Gly)
11g.118488635T=CA2003517650KMT2Ac.4453T= (p.Cys1485=)
c.265T= (p.Cys89=)
c.133T= (p.Cys45=)
c.4354T= (p.Cys1452=)
c.4240T= (p.Cys1414=)
c.490T= (p.Cys164=)
c.1837T= (p.Cys613=)
c.2260T= (p.Cys754=)
c.1936T= (p.Cys646=)
11g.118488636G>ACA382831806KMT2Ac.4454G>A (p.Cys1485Tyr)
c.266G>A (p.Cys89Tyr)
c.134G>A (p.Cys45Tyr)
c.4355G>A (p.Cys1452Tyr)
c.4241G>A (p.Cys1414Tyr)
c.491G>A (p.Cys164Tyr)
c.1838G>A (p.Cys613Tyr)
c.2261G>A (p.Cys754Tyr)
c.1937G>A (p.Cys646Tyr)
11g.118488636G>CCA382831808KMT2Ac.4454G>C (p.Cys1485Ser)
c.266G>C (p.Cys89Ser)
c.134G>C (p.Cys45Ser)
c.4355G>C (p.Cys1452Ser)
c.4241G>C (p.Cys1414Ser)
c.491G>C (p.Cys164Ser)
c.1838G>C (p.Cys613Ser)
c.2261G>C (p.Cys754Ser)
c.1937G>C (p.Cys646Ser)
11g.118488636G>TCA382831803KMT2Ac.4454G>T (p.Cys1485Phe)
c.266G>T (p.Cys89Phe)
c.134G>T (p.Cys45Phe)
c.4355G>T (p.Cys1452Phe)
c.4241G>T (p.Cys1414Phe)
c.491G>T (p.Cys164Phe)
c.1838G>T (p.Cys613Phe)
c.2261G>T (p.Cys754Phe)
c.1937G>T (p.Cys646Phe)
 COSMIC COSMIC
11g.118488637T>ACA382831810KMT2Ac.4455T>A (p.Cys1485Ter)
c.267T>A (p.Cys89Ter)
c.135T>A (p.Cys45Ter)
c.4356T>A (p.Cys1452Ter)
c.4242T>A (p.Cys1414Ter)
c.492T>A (p.Cys164Ter)
c.1839T>A (p.Cys613Ter)
c.2262T>A (p.Cys754Ter)
c.1938T>A (p.Cys646Ter)
11g.118488637T>CCA477089534KMT2Ac.4455T>C (p.Cys1485=)
c.267T>C (p.Cys89=)
c.135T>C (p.Cys45=)
c.4356T>C (p.Cys1452=)
c.4242T>C (p.Cys1414=)
c.492T>C (p.Cys164=)
c.1839T>C (p.Cys613=)
c.2262T>C (p.Cys754=)
c.1938T>C (p.Cys646=)
 ClinVar dbSNP
11g.118488637T>GCA382831809KMT2Ac.4455T>G (p.Cys1485Trp)
c.267T>G (p.Cys89Trp)
c.135T>G (p.Cys45Trp)
c.4356T>G (p.Cys1452Trp)
c.4242T>G (p.Cys1414Trp)
c.492T>G (p.Cys164Trp)
c.1839T>G (p.Cys613Trp)
c.2262T>G (p.Cys754Trp)
c.1938T>G (p.Cys646Trp)
11g.118488637T=CA2003517652KMT2Ac.4455T= (p.Cys1485=)
c.267T= (p.Cys89=)
c.135T= (p.Cys45=)
c.4356T= (p.Cys1452=)
c.4242T= (p.Cys1414=)
c.492T= (p.Cys164=)
c.1839T= (p.Cys613=)
c.2262T= (p.Cys754=)
c.1938T= (p.Cys646=)
11g.118488638G>ACA382831813KMT2Ac.4456G>A (p.Glu1486Lys)
c.268G>A (p.Glu90Lys)
c.136G>A (p.Glu46Lys)
c.4357G>A (p.Glu1453Lys)
c.4243G>A (p.Glu1415Lys)
c.493G>A (p.Glu165Lys)
c.1840G>A (p.Glu614Lys)
c.2263G>A (p.Glu755Lys)
c.1939G>A (p.Glu647Lys)
 dbSNP

Number of alleles fetched