Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118488722T>ACA382832701KMT2Ac.4540T>A (p.Phe1514Ile)
c.352T>A (p.Phe118Ile)
c.220T>A (p.Phe74Ile)
c.4441T>A (p.Phe1481Ile)
c.4327T>A (p.Phe1443Ile)
c.577T>A (p.Phe193Ile)
c.1924T>A (p.Phe642Ile)
c.2347T>A (p.Phe783Ile)
c.2023T>A (p.Phe675Ile)
11g.118488722T>CCA382832707KMT2Ac.4540T>C (p.Phe1514Leu)
c.352T>C (p.Phe118Leu)
c.220T>C (p.Phe74Leu)
c.4441T>C (p.Phe1481Leu)
c.4327T>C (p.Phe1443Leu)
c.577T>C (p.Phe193Leu)
c.1924T>C (p.Phe642Leu)
c.2347T>C (p.Phe783Leu)
c.2023T>C (p.Phe675Leu)
11g.118488722T>GCA382832709KMT2Ac.4540T>G (p.Phe1514Val)
c.352T>G (p.Phe118Val)
c.220T>G (p.Phe74Val)
c.4441T>G (p.Phe1481Val)
c.4327T>G (p.Phe1443Val)
c.577T>G (p.Phe193Val)
c.1924T>G (p.Phe642Val)
c.2347T>G (p.Phe783Val)
c.2023T>G (p.Phe675Val)
11g.118488723T>ACA382832712KMT2Ac.4541T>A (p.Phe1514Tyr)
c.353T>A (p.Phe118Tyr)
c.221T>A (p.Phe74Tyr)
c.4442T>A (p.Phe1481Tyr)
c.4328T>A (p.Phe1443Tyr)
c.578T>A (p.Phe193Tyr)
c.1925T>A (p.Phe642Tyr)
c.2348T>A (p.Phe783Tyr)
c.2024T>A (p.Phe675Tyr)
11g.118488723T>CCA382832714KMT2Ac.4541T>C (p.Phe1514Ser)
c.353T>C (p.Phe118Ser)
c.221T>C (p.Phe74Ser)
c.4442T>C (p.Phe1481Ser)
c.4328T>C (p.Phe1443Ser)
c.578T>C (p.Phe193Ser)
c.1925T>C (p.Phe642Ser)
c.2348T>C (p.Phe783Ser)
c.2024T>C (p.Phe675Ser)
11g.118488723T>GCA382832717KMT2Ac.4541T>G (p.Phe1514Cys)
c.353T>G (p.Phe118Cys)
c.221T>G (p.Phe74Cys)
c.4442T>G (p.Phe1481Cys)
c.4328T>G (p.Phe1443Cys)
c.578T>G (p.Phe193Cys)
c.1925T>G (p.Phe642Cys)
c.2348T>G (p.Phe783Cys)
c.2024T>G (p.Phe675Cys)
11g.118488724C>ACA382832719KMT2Ac.4542C>A (p.Phe1514Leu)
c.354C>A (p.Phe118Leu)
c.222C>A (p.Phe74Leu)
c.4443C>A (p.Phe1481Leu)
c.4329C>A (p.Phe1443Leu)
c.579C>A (p.Phe193Leu)
c.1926C>A (p.Phe642Leu)
c.2349C>A (p.Phe783Leu)
c.2025C>A (p.Phe675Leu)
11g.118488724C=CA2003517704KMT2Ac.4542C= (p.Phe1514=)
c.354C= (p.Phe118=)
c.222C= (p.Phe74=)
c.4443C= (p.Phe1481=)
c.4329C= (p.Phe1443=)
c.579C= (p.Phe193=)
c.1926C= (p.Phe642=)
c.2349C= (p.Phe783=)
c.2025C= (p.Phe675=)
11g.118488724C>GCA382832720KMT2Ac.4542C>G (p.Phe1514Leu)
c.354C>G (p.Phe118Leu)
c.222C>G (p.Phe74Leu)
c.4443C>G (p.Phe1481Leu)
c.4329C>G (p.Phe1443Leu)
c.579C>G (p.Phe193Leu)
c.1926C>G (p.Phe642Leu)
c.2349C>G (p.Phe783Leu)
c.2025C>G (p.Phe675Leu)
dbSNP
11g.118488724C>TCA477089581KMT2Ac.4542C>T (p.Phe1514=)
c.354C>T (p.Phe118=)
c.222C>T (p.Phe74=)
c.4443C>T (p.Phe1481=)
c.4329C>T (p.Phe1443=)
c.579C>T (p.Phe193=)
c.1926C>T (p.Phe642=)
c.2349C>T (p.Phe783=)
c.2025C>T (p.Phe675=)
dbSNP
11g.118488725T>ACA382832721KMT2Ac.4543T>A (p.Cys1515Ser)
c.355T>A (p.Cys119Ser)
c.223T>A (p.Cys75Ser)
c.4444T>A (p.Cys1482Ser)
c.4330T>A (p.Cys1444Ser)
c.580T>A (p.Cys194Ser)
c.1927T>A (p.Cys643Ser)
c.2350T>A (p.Cys784Ser)
c.2026T>A (p.Cys676Ser)
11g.118488725T>CCA382832722KMT2Ac.4543T>C (p.Cys1515Arg)
c.355T>C (p.Cys119Arg)
c.223T>C (p.Cys75Arg)
c.4444T>C (p.Cys1482Arg)
c.4330T>C (p.Cys1444Arg)
c.580T>C (p.Cys194Arg)
c.1927T>C (p.Cys643Arg)
c.2350T>C (p.Cys784Arg)
c.2026T>C (p.Cys676Arg)
11g.118488725T>GCA382832723KMT2Ac.4543T>G (p.Cys1515Gly)
c.355T>G (p.Cys119Gly)
c.223T>G (p.Cys75Gly)
c.4444T>G (p.Cys1482Gly)
c.4330T>G (p.Cys1444Gly)
c.580T>G (p.Cys194Gly)
c.1927T>G (p.Cys643Gly)
c.2350T>G (p.Cys784Gly)
c.2026T>G (p.Cys676Gly)
11g.118488726G>ACA382832724KMT2Ac.4544G>A (p.Cys1515Tyr)
c.356G>A (p.Cys119Tyr)
c.224G>A (p.Cys75Tyr)
c.4445G>A (p.Cys1482Tyr)
c.4331G>A (p.Cys1444Tyr)
c.581G>A (p.Cys194Tyr)
c.1928G>A (p.Cys643Tyr)
c.2351G>A (p.Cys784Tyr)
c.2027G>A (p.Cys676Tyr)
11g.118488726G>CCA382832725KMT2Ac.4544G>C (p.Cys1515Ser)
c.356G>C (p.Cys119Ser)
c.224G>C (p.Cys75Ser)
c.4445G>C (p.Cys1482Ser)
c.4331G>C (p.Cys1444Ser)
c.581G>C (p.Cys194Ser)
c.1928G>C (p.Cys643Ser)
c.2351G>C (p.Cys784Ser)
c.2027G>C (p.Cys676Ser)
11g.118488726G>TCA382832726KMT2Ac.4544G>T (p.Cys1515Phe)
c.356G>T (p.Cys119Phe)
c.224G>T (p.Cys75Phe)
c.4445G>T (p.Cys1482Phe)
c.4331G>T (p.Cys1444Phe)
c.581G>T (p.Cys194Phe)
c.1928G>T (p.Cys643Phe)
c.2351G>T (p.Cys784Phe)
c.2027G>T (p.Cys676Phe)
11g.118488727T>ACA382832728KMT2Ac.4545T>A (p.Cys1515Ter)
c.357T>A (p.Cys119Ter)
c.225T>A (p.Cys75Ter)
c.4446T>A (p.Cys1482Ter)
c.4332T>A (p.Cys1444Ter)
c.582T>A (p.Cys194Ter)
c.1929T>A (p.Cys643Ter)
c.2352T>A (p.Cys784Ter)
c.2028T>A (p.Cys676Ter)
11g.118488727T>CCA477089582KMT2Ac.4545T>C (p.Cys1515=)
c.357T>C (p.Cys119=)
c.225T>C (p.Cys75=)
c.4446T>C (p.Cys1482=)
c.4332T>C (p.Cys1444=)
c.582T>C (p.Cys194=)
c.1929T>C (p.Cys643=)
c.2352T>C (p.Cys784=)
c.2028T>C (p.Cys676=)
dbSNP COSMIC COSMIC
11g.118488727T>GCA382832727KMT2Ac.4545T>G (p.Cys1515Trp)
c.357T>G (p.Cys119Trp)
c.225T>G (p.Cys75Trp)
c.4446T>G (p.Cys1482Trp)
c.4332T>G (p.Cys1444Trp)
c.582T>G (p.Cys194Trp)
c.1929T>G (p.Cys643Trp)
c.2352T>G (p.Cys784Trp)
c.2028T>G (p.Cys676Trp)
11g.118488727T=CA2003517706KMT2Ac.4545T= (p.Cys1515=)
c.357T= (p.Cys119=)
c.225T= (p.Cys75=)
c.4446T= (p.Cys1482=)
c.4332T= (p.Cys1444=)
c.582T= (p.Cys194=)
c.1929T= (p.Cys643=)
c.2352T= (p.Cys784=)
c.2028T= (p.Cys676=)
11g.118488728C>ACA382832729KMT2Ac.4546C>A (p.His1516Asn)
c.358C>A (p.His120Asn)
c.226C>A (p.His76Asn)
c.4447C>A (p.His1483Asn)
c.4333C>A (p.His1445Asn)
c.583C>A (p.His195Asn)
c.1930C>A (p.His644Asn)
c.2353C>A (p.His785Asn)
c.2029C>A (p.His677Asn)
11g.118488728C>GCA382832730KMT2Ac.4546C>G (p.His1516Asp)
c.358C>G (p.His120Asp)
c.226C>G (p.His76Asp)
c.4447C>G (p.His1483Asp)
c.4333C>G (p.His1445Asp)
c.583C>G (p.His195Asp)
c.1930C>G (p.His644Asp)
c.2353C>G (p.His785Asp)
c.2029C>G (p.His677Asp)
dbSNP
11g.118488728C>TCA382832732KMT2Ac.4546C>T (p.His1516Tyr)
c.358C>T (p.His120Tyr)
c.226C>T (p.His76Tyr)
c.4447C>T (p.His1483Tyr)
c.4333C>T (p.His1445Tyr)
c.583C>T (p.His195Tyr)
c.1930C>T (p.His644Tyr)
c.2353C>T (p.His785Tyr)
c.2029C>T (p.His677Tyr)
11g.118488729A>CCA382832734KMT2Ac.4547A>C (p.His1516Pro)
c.359A>C (p.His120Pro)
c.227A>C (p.His76Pro)
c.4448A>C (p.His1483Pro)
c.4334A>C (p.His1445Pro)
c.584A>C (p.His195Pro)
c.1931A>C (p.His644Pro)
c.2354A>C (p.His785Pro)
c.2030A>C (p.His677Pro)
11g.118488729A>GCA382832735KMT2Ac.4547A>G (p.His1516Arg)
c.359A>G (p.His120Arg)
c.227A>G (p.His76Arg)
c.4448A>G (p.His1483Arg)
c.4334A>G (p.His1445Arg)
c.584A>G (p.His195Arg)
c.1931A>G (p.His644Arg)
c.2354A>G (p.His785Arg)
c.2030A>G (p.His677Arg)
11g.118488729A>TCA382832736KMT2Ac.4547A>T (p.His1516Leu)
c.359A>T (p.His120Leu)
c.227A>T (p.His76Leu)
c.4448A>T (p.His1483Leu)
c.4334A>T (p.His1445Leu)
c.584A>T (p.His195Leu)
c.1931A>T (p.His644Leu)
c.2354A>T (p.His785Leu)
c.2030A>T (p.His677Leu)
11g.118488730C>ACA382832737KMT2Ac.4548C>A (p.His1516Gln)
c.360C>A (p.His120Gln)
c.228C>A (p.His76Gln)
c.4449C>A (p.His1483Gln)
c.4335C>A (p.His1445Gln)
c.585C>A (p.His195Gln)
c.1932C>A (p.His644Gln)
c.2355C>A (p.His785Gln)
c.2031C>A (p.His677Gln)
11g.118488730C=CA2003517708KMT2Ac.4548C= (p.His1516=)
c.360C= (p.His120=)
c.228C= (p.His76=)
c.4449C= (p.His1483=)
c.4335C= (p.His1445=)
c.585C= (p.His195=)
c.1932C= (p.His644=)
c.2355C= (p.His785=)
c.2031C= (p.His677=)
11g.118488730C>GCA382832743KMT2Ac.4548C>G (p.His1516Gln)
c.360C>G (p.His120Gln)
c.228C>G (p.His76Gln)
c.4449C>G (p.His1483Gln)
c.4335C>G (p.His1445Gln)
c.585C>G (p.His195Gln)
c.1932C>G (p.His644Gln)
c.2355C>G (p.His785Gln)
c.2031C>G (p.His677Gln)
dbSNP
11g.118488730C>TCA6303872KMT2Ac.4548C>T (p.His1516=)
c.360C>T (p.His120=)
c.228C>T (p.His76=)
c.4449C>T (p.His1483=)
c.4335C>T (p.His1445=)
c.585C>T (p.His195=)
c.1932C>T (p.His644=)
c.2355C>T (p.His785=)
c.2031C>T (p.His677=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118488731G>ACA382832746KMT2Ac.4549G>A (p.Val1517Ile)
c.361G>A (p.Val121Ile)
c.229G>A (p.Val77Ile)
c.4450G>A (p.Val1484Ile)
c.4336G>A (p.Val1446Ile)
c.586G>A (p.Val196Ile)
c.1933G>A (p.Val645Ile)
c.2356G>A (p.Val786Ile)
c.2032G>A (p.Val678Ile)
dbSNP
11g.118488731G>CCA382832751KMT2Ac.4549G>C (p.Val1517Leu)
c.361G>C (p.Val121Leu)
c.229G>C (p.Val77Leu)
c.4450G>C (p.Val1484Leu)
c.4336G>C (p.Val1446Leu)
c.586G>C (p.Val196Leu)
c.1933G>C (p.Val645Leu)
c.2356G>C (p.Val786Leu)
c.2032G>C (p.Val678Leu)
11g.118488731G>TCA382832753KMT2Ac.4549G>T (p.Val1517Phe)
c.361G>T (p.Val121Phe)
c.229G>T (p.Val77Phe)
c.4450G>T (p.Val1484Phe)
c.4336G>T (p.Val1446Phe)
c.586G>T (p.Val196Phe)
c.1933G>T (p.Val645Phe)
c.2356G>T (p.Val786Phe)
c.2032G>T (p.Val678Phe)
11g.118488732T>ACA382832756KMT2Ac.4550T>A (p.Val1517Asp)
c.362T>A (p.Val121Asp)
c.230T>A (p.Val77Asp)
c.4451T>A (p.Val1484Asp)
c.4337T>A (p.Val1446Asp)
c.587T>A (p.Val196Asp)
c.1934T>A (p.Val645Asp)
c.2357T>A (p.Val786Asp)
c.2033T>A (p.Val678Asp)
11g.118488732T>CCA382832758KMT2Ac.4550T>C (p.Val1517Ala)
c.362T>C (p.Val121Ala)
c.230T>C (p.Val77Ala)
c.4451T>C (p.Val1484Ala)
c.4337T>C (p.Val1446Ala)
c.587T>C (p.Val196Ala)
c.1934T>C (p.Val645Ala)
c.2357T>C (p.Val786Ala)
c.2033T>C (p.Val678Ala)
11g.118488732T>GCA382832762KMT2Ac.4550T>G (p.Val1517Gly)
c.362T>G (p.Val121Gly)
c.230T>G (p.Val77Gly)
c.4451T>G (p.Val1484Gly)
c.4337T>G (p.Val1446Gly)
c.587T>G (p.Val196Gly)
c.1934T>G (p.Val645Gly)
c.2357T>G (p.Val786Gly)
c.2033T>G (p.Val678Gly)
11g.118488733T>ACA477089583KMT2Ac.4551T>A (p.Val1517=)
c.363T>A (p.Val121=)
c.231T>A (p.Val77=)
c.4452T>A (p.Val1484=)
c.4338T>A (p.Val1446=)
c.588T>A (p.Val196=)
c.1935T>A (p.Val645=)
c.2358T>A (p.Val786=)
c.2034T>A (p.Val678=)
11g.118488733T>CCA477089584KMT2Ac.4551T>C (p.Val1517=)
c.363T>C (p.Val121=)
c.231T>C (p.Val77=)
c.4452T>C (p.Val1484=)
c.4338T>C (p.Val1446=)
c.588T>C (p.Val196=)
c.1935T>C (p.Val645=)
c.2358T>C (p.Val786=)
c.2034T>C (p.Val678=)
dbSNP
11g.118488733T>GCA477089585KMT2Ac.4551T>G (p.Val1517=)
c.363T>G (p.Val121=)
c.231T>G (p.Val77=)
c.4452T>G (p.Val1484=)
c.4338T>G (p.Val1446=)
c.588T>G (p.Val196=)
c.1935T>G (p.Val645=)
c.2358T>G (p.Val786=)
c.2034T>G (p.Val678=)
11g.118488733T=CA2003517709KMT2Ac.4551T= (p.Val1517=)
c.363T= (p.Val121=)
c.231T= (p.Val77=)
c.4452T= (p.Val1484=)
c.4338T= (p.Val1446=)
c.588T= (p.Val196=)
c.1935T= (p.Val645=)
c.2358T= (p.Val786=)
c.2034T= (p.Val678=)
11g.118488734T>ACA382832766KMT2Ac.4552T>A (p.Cys1518Ser)
c.364T>A (p.Cys122Ser)
c.232T>A (p.Cys78Ser)
c.4453T>A (p.Cys1485Ser)
c.4339T>A (p.Cys1447Ser)
c.589T>A (p.Cys197Ser)
c.1936T>A (p.Cys646Ser)
c.2359T>A (p.Cys787Ser)
c.2035T>A (p.Cys679Ser)
11g.118488734T>CCA382832769KMT2Ac.4552T>C (p.Cys1518Arg)
c.364T>C (p.Cys122Arg)
c.232T>C (p.Cys78Arg)
c.4453T>C (p.Cys1485Arg)
c.4339T>C (p.Cys1447Arg)
c.589T>C (p.Cys197Arg)
c.1936T>C (p.Cys646Arg)
c.2359T>C (p.Cys787Arg)
c.2035T>C (p.Cys679Arg)
11g.118488734T>GCA382832771KMT2Ac.4552T>G (p.Cys1518Gly)
c.364T>G (p.Cys122Gly)
c.232T>G (p.Cys78Gly)
c.4453T>G (p.Cys1485Gly)
c.4339T>G (p.Cys1447Gly)
c.589T>G (p.Cys197Gly)
c.1936T>G (p.Cys646Gly)
c.2359T>G (p.Cys787Gly)
c.2035T>G (p.Cys679Gly)
11g.118488735G>ACA382832774KMT2Ac.4553G>A (p.Cys1518Tyr)
c.365G>A (p.Cys122Tyr)
c.233G>A (p.Cys78Tyr)
c.4454G>A (p.Cys1485Tyr)
c.4340G>A (p.Cys1447Tyr)
c.590G>A (p.Cys197Tyr)
c.1937G>A (p.Cys646Tyr)
c.2360G>A (p.Cys787Tyr)
c.2036G>A (p.Cys679Tyr)
11g.118488735G>CCA382832776KMT2Ac.4553G>C (p.Cys1518Ser)
c.365G>C (p.Cys122Ser)
c.233G>C (p.Cys78Ser)
c.4454G>C (p.Cys1485Ser)
c.4340G>C (p.Cys1447Ser)
c.590G>C (p.Cys197Ser)
c.1937G>C (p.Cys646Ser)
c.2360G>C (p.Cys787Ser)
c.2036G>C (p.Cys679Ser)
gnomAD v4
11g.118488735G>TCA382832777KMT2Ac.4553G>T (p.Cys1518Phe)
c.365G>T (p.Cys122Phe)
c.233G>T (p.Cys78Phe)
c.4454G>T (p.Cys1485Phe)
c.4340G>T (p.Cys1447Phe)
c.590G>T (p.Cys197Phe)
c.1937G>T (p.Cys646Phe)
c.2360G>T (p.Cys787Phe)
c.2036G>T (p.Cys679Phe)
11g.118488736T>ACA382832779KMT2Ac.4554T>A (p.Cys1518Ter)
c.366T>A (p.Cys122Ter)
c.234T>A (p.Cys78Ter)
c.4455T>A (p.Cys1485Ter)
c.4341T>A (p.Cys1447Ter)
c.591T>A (p.Cys197Ter)
c.1938T>A (p.Cys646Ter)
c.2361T>A (p.Cys787Ter)
c.2037T>A (p.Cys679Ter)
11g.118488736T>CCA477089586KMT2Ac.4554T>C (p.Cys1518=)
c.366T>C (p.Cys122=)
c.234T>C (p.Cys78=)
c.4455T>C (p.Cys1485=)
c.4341T>C (p.Cys1447=)
c.591T>C (p.Cys197=)
c.1938T>C (p.Cys646=)
c.2361T>C (p.Cys787=)
c.2037T>C (p.Cys679=)
gnomAD v4
11g.118488736T>GCA382832781KMT2Ac.4554T>G (p.Cys1518Trp)
c.366T>G (p.Cys122Trp)
c.234T>G (p.Cys78Trp)
c.4455T>G (p.Cys1485Trp)
c.4341T>G (p.Cys1447Trp)
c.591T>G (p.Cys197Trp)
c.1938T>G (p.Cys646Trp)
c.2361T>G (p.Cys787Trp)
c.2037T>G (p.Cys679Trp)
11g.118488737G>ACA382832784KMT2Ac.4555G>A (p.Gly1519Arg)
c.367G>A (p.Gly123Arg)
c.235G>A (p.Gly79Arg)
c.4456G>A (p.Gly1486Arg)
c.4342G>A (p.Gly1448Arg)
c.592G>A (p.Gly198Arg)
c.1939G>A (p.Gly647Arg)
c.2362G>A (p.Gly788Arg)
c.2038G>A (p.Gly680Arg)
dbSNP
11g.118488737G>CCA382832788KMT2Ac.4555G>C (p.Gly1519Arg)
c.367G>C (p.Gly123Arg)
c.235G>C (p.Gly79Arg)
c.4456G>C (p.Gly1486Arg)
c.4342G>C (p.Gly1448Arg)
c.592G>C (p.Gly198Arg)
c.1939G>C (p.Gly647Arg)
c.2362G>C (p.Gly788Arg)
c.2038G>C (p.Gly680Arg)
11g.118488737G=CA2003517710KMT2Ac.4555G= (p.Gly1519=)
c.367G= (p.Gly123=)
c.235G= (p.Gly79=)
c.4456G= (p.Gly1486=)
c.4342G= (p.Gly1448=)
c.592G= (p.Gly198=)
c.1939G= (p.Gly647=)
c.2362G= (p.Gly788=)
c.2038G= (p.Gly680=)
11g.118488737G>TCA382832787KMT2Ac.4555G>T (p.Gly1519Ter)
c.367G>T (p.Gly123Ter)
c.235G>T (p.Gly79Ter)
c.4456G>T (p.Gly1486Ter)
c.4342G>T (p.Gly1448Ter)
c.592G>T (p.Gly198Ter)
c.1939G>T (p.Gly647Ter)
c.2362G>T (p.Gly788Ter)
c.2038G>T (p.Gly680Ter)
11g.118488738G>ACA382832789KMT2Ac.4556G>A (p.Gly1519Glu)
c.368G>A (p.Gly123Glu)
c.236G>A (p.Gly79Glu)
c.4457G>A (p.Gly1486Glu)
c.4343G>A (p.Gly1448Glu)
c.593G>A (p.Gly198Glu)
c.1940G>A (p.Gly647Glu)
c.2363G>A (p.Gly788Glu)
c.2039G>A (p.Gly680Glu)
11g.118488738G>CCA382832790KMT2Ac.4556G>C (p.Gly1519Ala)
c.368G>C (p.Gly123Ala)
c.236G>C (p.Gly79Ala)
c.4457G>C (p.Gly1486Ala)
c.4343G>C (p.Gly1448Ala)
c.593G>C (p.Gly198Ala)
c.1940G>C (p.Gly647Ala)
c.2363G>C (p.Gly788Ala)
c.2039G>C (p.Gly680Ala)
11g.118488738G>TCA382832791KMT2Ac.4556G>T (p.Gly1519Val)
c.368G>T (p.Gly123Val)
c.236G>T (p.Gly79Val)
c.4457G>T (p.Gly1486Val)
c.4343G>T (p.Gly1448Val)
c.593G>T (p.Gly198Val)
c.1940G>T (p.Gly647Val)
c.2363G>T (p.Gly788Val)
c.2039G>T (p.Gly680Val)
11g.118488739A=CA2003517711KMT2Ac.4557A= (p.Gly1519=)
c.369A= (p.Gly123=)
c.237A= (p.Gly79=)
c.4458A= (p.Gly1486=)
c.4344A= (p.Gly1448=)
c.594A= (p.Gly198=)
c.1941A= (p.Gly647=)
c.2364A= (p.Gly788=)
c.2040A= (p.Gly680=)
11g.118488739A>CCA477089587KMT2Ac.4557A>C (p.Gly1519=)
c.369A>C (p.Gly123=)
c.237A>C (p.Gly79=)
c.4458A>C (p.Gly1486=)
c.4344A>C (p.Gly1448=)
c.594A>C (p.Gly198=)
c.1941A>C (p.Gly647=)
c.2364A>C (p.Gly788=)
c.2040A>C (p.Gly680=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.118488739A>GCA477089589KMT2Ac.4557A>G (p.Gly1519=)
c.369A>G (p.Gly123=)
c.237A>G (p.Gly79=)
c.4458A>G (p.Gly1486=)
c.4344A>G (p.Gly1448=)
c.594A>G (p.Gly198=)
c.1941A>G (p.Gly647=)
c.2364A>G (p.Gly788=)
c.2040A>G (p.Gly680=)
11g.118488739A>TCA477089588KMT2Ac.4557A>T (p.Gly1519=)
c.369A>T (p.Gly123=)
c.237A>T (p.Gly79=)
c.4458A>T (p.Gly1486=)
c.4344A>T (p.Gly1448=)
c.594A>T (p.Gly198=)
c.1941A>T (p.Gly647=)
c.2364A>T (p.Gly788=)
c.2040A>T (p.Gly680=)
11g.118488740A>CCA477089590KMT2Ac.4558A>C (p.Arg1520=)
c.370A>C (p.Arg124=)
c.238A>C (p.Arg80=)
c.4459A>C (p.Arg1487=)
c.4345A>C (p.Arg1449=)
c.595A>C (p.Arg199=)
c.1942A>C (p.Arg648=)
c.2365A>C (p.Arg789=)
c.2041A>C (p.Arg681=)
11g.118488740A>GCA382832792KMT2Ac.4558A>G (p.Arg1520Gly)
c.370A>G (p.Arg124Gly)
c.238A>G (p.Arg80Gly)
c.4459A>G (p.Arg1487Gly)
c.4345A>G (p.Arg1449Gly)
c.595A>G (p.Arg199Gly)
c.1942A>G (p.Arg648Gly)
c.2365A>G (p.Arg789Gly)
c.2041A>G (p.Arg681Gly)
11g.118488740A>TCA382832794KMT2Ac.4558A>T (p.Arg1520Trp)
c.370A>T (p.Arg124Trp)
c.238A>T (p.Arg80Trp)
c.4459A>T (p.Arg1487Trp)
c.4345A>T (p.Arg1449Trp)
c.595A>T (p.Arg199Trp)
c.1942A>T (p.Arg648Trp)
c.2365A>T (p.Arg789Trp)
c.2041A>T (p.Arg681Trp)
11g.118488741G>ACA382832796KMT2Ac.4559G>A (p.Arg1520Lys)
c.371G>A (p.Arg124Lys)
c.239G>A (p.Arg80Lys)
c.4460G>A (p.Arg1487Lys)
c.4346G>A (p.Arg1449Lys)
c.596G>A (p.Arg199Lys)
c.1943G>A (p.Arg648Lys)
c.2366G>A (p.Arg789Lys)
c.2042G>A (p.Arg681Lys)
11g.118488741G>CCA382832801KMT2Ac.4559G>C (p.Arg1520Thr)
c.371G>C (p.Arg124Thr)
c.239G>C (p.Arg80Thr)
c.4460G>C (p.Arg1487Thr)
c.4346G>C (p.Arg1449Thr)
c.596G>C (p.Arg199Thr)
c.1943G>C (p.Arg648Thr)
c.2366G>C (p.Arg789Thr)
c.2042G>C (p.Arg681Thr)
11g.118488741G>TCA382832802KMT2Ac.4559G>T (p.Arg1520Met)
c.371G>T (p.Arg124Met)
c.239G>T (p.Arg80Met)
c.4460G>T (p.Arg1487Met)
c.4346G>T (p.Arg1449Met)
c.596G>T (p.Arg199Met)
c.1943G>T (p.Arg648Met)
c.2366G>T (p.Arg789Met)
c.2042G>T (p.Arg681Met)
11g.118488742G>ACA477089591KMT2Ac.4560G>A (p.Arg1520=)
c.372G>A (p.Arg124=)
c.240G>A (p.Arg80=)
c.4461G>A (p.Arg1487=)
c.4347G>A (p.Arg1449=)
c.597G>A (p.Arg199=)
c.1944G>A (p.Arg648=)
c.2367G>A (p.Arg789=)
c.2043G>A (p.Arg681=)
dbSNP
11g.118488742G>CCA382832804KMT2Ac.4560G>C (p.Arg1520Ser)
c.372G>C (p.Arg124Ser)
c.240G>C (p.Arg80Ser)
c.4461G>C (p.Arg1487Ser)
c.4347G>C (p.Arg1449Ser)
c.597G>C (p.Arg199Ser)
c.1944G>C (p.Arg648Ser)
c.2367G>C (p.Arg789Ser)
c.2043G>C (p.Arg681Ser)
11g.118488742G>TCA382832809KMT2Ac.4560G>T (p.Arg1520Ser)
c.372G>T (p.Arg124Ser)
c.240G>T (p.Arg80Ser)
c.4461G>T (p.Arg1487Ser)
c.4347G>T (p.Arg1449Ser)
c.597G>T (p.Arg199Ser)
c.1944G>T (p.Arg648Ser)
c.2367G>T (p.Arg789Ser)
c.2043G>T (p.Arg681Ser)
11g.118488743C>ACA382832812KMT2Ac.4561C>A (p.Gln1521Lys)
c.373C>A (p.Gln125Lys)
c.241C>A (p.Gln81Lys)
c.4462C>A (p.Gln1488Lys)
c.4348C>A (p.Gln1450Lys)
c.598C>A (p.Gln200Lys)
c.1945C>A (p.Gln649Lys)
c.2368C>A (p.Gln790Lys)
c.2044C>A (p.Gln682Lys)
11g.118488743C>GCA382832815KMT2Ac.4561C>G (p.Gln1521Glu)
c.373C>G (p.Gln125Glu)
c.241C>G (p.Gln81Glu)
c.4462C>G (p.Gln1488Glu)
c.4348C>G (p.Gln1450Glu)
c.598C>G (p.Gln200Glu)
c.1945C>G (p.Gln649Glu)
c.2368C>G (p.Gln790Glu)
c.2044C>G (p.Gln682Glu)
11g.118488743C>TCA382832818KMT2Ac.4561C>T (p.Gln1521Ter)
c.373C>T (p.Gln125Ter)
c.241C>T (p.Gln81Ter)
c.4462C>T (p.Gln1488Ter)
c.4348C>T (p.Gln1450Ter)
c.598C>T (p.Gln200Ter)
c.1945C>T (p.Gln649Ter)
c.2368C>T (p.Gln790Ter)
c.2044C>T (p.Gln682Ter)
11g.118488744A>CCA382832823KMT2Ac.4562A>C (p.Gln1521Pro)
c.374A>C (p.Gln125Pro)
c.242A>C (p.Gln81Pro)
c.4463A>C (p.Gln1488Pro)
c.4349A>C (p.Gln1450Pro)
c.599A>C (p.Gln200Pro)
c.1946A>C (p.Gln649Pro)
c.2369A>C (p.Gln790Pro)
c.2045A>C (p.Gln682Pro)
11g.118488744A>GCA382832830KMT2Ac.4562A>G (p.Gln1521Arg)
c.374A>G (p.Gln125Arg)
c.242A>G (p.Gln81Arg)
c.4463A>G (p.Gln1488Arg)
c.4349A>G (p.Gln1450Arg)
c.599A>G (p.Gln200Arg)
c.1946A>G (p.Gln649Arg)
c.2369A>G (p.Gln790Arg)
c.2045A>G (p.Gln682Arg)
11g.118488744A>TCA382832828KMT2Ac.4562A>T (p.Gln1521Leu)
c.374A>T (p.Gln125Leu)
c.242A>T (p.Gln81Leu)
c.4463A>T (p.Gln1488Leu)
c.4349A>T (p.Gln1450Leu)
c.599A>T (p.Gln200Leu)
c.1946A>T (p.Gln649Leu)
c.2369A>T (p.Gln790Leu)
c.2045A>T (p.Gln682Leu)
11g.118488745A=CA2003517713KMT2Ac.4563A= (p.Gln1521=)
c.375A= (p.Gln125=)
c.243A= (p.Gln81=)
c.4464A= (p.Gln1488=)
c.4350A= (p.Gln1450=)
c.600A= (p.Gln200=)
c.1947A= (p.Gln649=)
c.2370A= (p.Gln790=)
c.2046A= (p.Gln682=)
11g.118488745A>CCA382832834KMT2Ac.4563A>C (p.Gln1521His)
c.375A>C (p.Gln125His)
c.243A>C (p.Gln81His)
c.4464A>C (p.Gln1488His)
c.4350A>C (p.Gln1450His)
c.600A>C (p.Gln200His)
c.1947A>C (p.Gln649His)
c.2370A>C (p.Gln790His)
c.2046A>C (p.Gln682His)
11g.118488745A>GCA229530270KMT2Ac.4563A>G (p.Gln1521=)
c.375A>G (p.Gln125=)
c.243A>G (p.Gln81=)
c.4464A>G (p.Gln1488=)
c.4350A>G (p.Gln1450=)
c.600A>G (p.Gln200=)
c.1947A>G (p.Gln649=)
c.2370A>G (p.Gln790=)
c.2046A>G (p.Gln682=)
ClinVar dbSNP gnomAD v4
11g.118488745A>TCA382832838KMT2Ac.4563A>T (p.Gln1521His)
c.375A>T (p.Gln125His)
c.243A>T (p.Gln81His)
c.4464A>T (p.Gln1488His)
c.4350A>T (p.Gln1450His)
c.600A>T (p.Gln200His)
c.1947A>T (p.Gln649His)
c.2370A>T (p.Gln790His)
c.2046A>T (p.Gln682His)
11g.118488746C>ACA382832844KMT2Ac.4564C>A (p.His1522Asn)
c.376C>A (p.His126Asn)
c.244C>A (p.His82Asn)
c.4465C>A (p.His1489Asn)
c.4351C>A (p.His1451Asn)
c.601C>A (p.His201Asn)
c.1948C>A (p.His650Asn)
c.2371C>A (p.His791Asn)
c.2047C>A (p.His683Asn)
11g.118488746C=CA2003517715KMT2Ac.4564C= (p.His1522=)
c.376C= (p.His126=)
c.244C= (p.His82=)
c.4465C= (p.His1489=)
c.4351C= (p.His1451=)
c.601C= (p.His201=)
c.1948C= (p.His650=)
c.2371C= (p.His791=)
c.2047C= (p.His683=)
11g.118488746C>GCA382832856KMT2Ac.4564C>G (p.His1522Asp)
c.376C>G (p.His126Asp)
c.244C>G (p.His82Asp)
c.4465C>G (p.His1489Asp)
c.4351C>G (p.His1451Asp)
c.601C>G (p.His201Asp)
c.1948C>G (p.His650Asp)
c.2371C>G (p.His791Asp)
c.2047C>G (p.His683Asp)
11g.118488746C>TCA382832857KMT2Ac.4564C>T (p.His1522Tyr)
c.376C>T (p.His126Tyr)
c.244C>T (p.His82Tyr)
c.4465C>T (p.His1489Tyr)
c.4351C>T (p.His1451Tyr)
c.601C>T (p.His201Tyr)
c.1948C>T (p.His650Tyr)
c.2371C>T (p.His791Tyr)
c.2047C>T (p.His683Tyr)
dbSNP gnomAD v3 gnomAD v4
11g.118488747A>CCA382832859KMT2Ac.4565A>C (p.His1522Pro)
c.377A>C (p.His126Pro)
c.245A>C (p.His82Pro)
c.4466A>C (p.His1489Pro)
c.4352A>C (p.His1451Pro)
c.602A>C (p.His201Pro)
c.1949A>C (p.His650Pro)
c.2372A>C (p.His791Pro)
c.2048A>C (p.His683Pro)
11g.118488747A>GCA382832868KMT2Ac.4565A>G (p.His1522Arg)
c.377A>G (p.His126Arg)
c.245A>G (p.His82Arg)
c.4466A>G (p.His1489Arg)
c.4352A>G (p.His1451Arg)
c.602A>G (p.His201Arg)
c.1949A>G (p.His650Arg)
c.2372A>G (p.His791Arg)
c.2048A>G (p.His683Arg)
ClinVar dbSNP
11g.118488747A>TCA382832871KMT2Ac.4565A>T (p.His1522Leu)
c.377A>T (p.His126Leu)
c.245A>T (p.His82Leu)
c.4466A>T (p.His1489Leu)
c.4352A>T (p.His1451Leu)
c.602A>T (p.His201Leu)
c.1949A>T (p.His650Leu)
c.2372A>T (p.His791Leu)
c.2048A>T (p.His683Leu)
11g.118488748T>ACA382832887KMT2Ac.4566T>A (p.His1522Gln)
c.378T>A (p.His126Gln)
c.246T>A (p.His82Gln)
c.4467T>A (p.His1489Gln)
c.4353T>A (p.His1451Gln)
c.603T>A (p.His201Gln)
c.1950T>A (p.His650Gln)
c.2373T>A (p.His791Gln)
c.2049T>A (p.His683Gln)
11g.118488748T>CCA477089592KMT2Ac.4566T>C (p.His1522=)
c.378T>C (p.His126=)
c.246T>C (p.His82=)
c.4467T>C (p.His1489=)
c.4353T>C (p.His1451=)
c.603T>C (p.His201=)
c.1950T>C (p.His650=)
c.2373T>C (p.His791=)
c.2049T>C (p.His683=)
11g.118488748T>GCA382832891KMT2Ac.4566T>G (p.His1522Gln)
c.378T>G (p.His126Gln)
c.246T>G (p.His82Gln)
c.4467T>G (p.His1489Gln)
c.4353T>G (p.His1451Gln)
c.603T>G (p.His201Gln)
c.1950T>G (p.His650Gln)
c.2373T>G (p.His791Gln)
c.2049T>G (p.His683Gln)
11g.118488749C>ACA382832893KMT2Ac.4567C>A (p.Gln1523Lys)
c.379C>A (p.Gln127Lys)
c.247C>A (p.Gln83Lys)
c.4468C>A (p.Gln1490Lys)
c.4354C>A (p.Gln1452Lys)
c.604C>A (p.Gln202Lys)
c.1951C>A (p.Gln651Lys)
c.2374C>A (p.Gln792Lys)
c.2050C>A (p.Gln684Lys)
11g.118488749C>GCA382832894KMT2Ac.4567C>G (p.Gln1523Glu)
c.379C>G (p.Gln127Glu)
c.247C>G (p.Gln83Glu)
c.4468C>G (p.Gln1490Glu)
c.4354C>G (p.Gln1452Glu)
c.604C>G (p.Gln202Glu)
c.1951C>G (p.Gln651Glu)
c.2374C>G (p.Gln792Glu)
c.2050C>G (p.Gln684Glu)
11g.118488749C>TCA382832892KMT2Ac.4567C>T (p.Gln1523Ter)
c.379C>T (p.Gln127Ter)
c.247C>T (p.Gln83Ter)
c.4468C>T (p.Gln1490Ter)
c.4354C>T (p.Gln1452Ter)
c.604C>T (p.Gln202Ter)
c.1951C>T (p.Gln651Ter)
c.2374C>T (p.Gln792Ter)
c.2050C>T (p.Gln684Ter)
11g.118488750A>CCA382832895KMT2Ac.4568A>C (p.Gln1523Pro)
c.380A>C (p.Gln127Pro)
c.248A>C (p.Gln83Pro)
c.4469A>C (p.Gln1490Pro)
c.4355A>C (p.Gln1452Pro)
c.605A>C (p.Gln202Pro)
c.1952A>C (p.Gln651Pro)
c.2375A>C (p.Gln792Pro)
c.2051A>C (p.Gln684Pro)
11g.118488750A>GCA382832897KMT2Ac.4568A>G (p.Gln1523Arg)
c.380A>G (p.Gln127Arg)
c.248A>G (p.Gln83Arg)
c.4469A>G (p.Gln1490Arg)
c.4355A>G (p.Gln1452Arg)
c.605A>G (p.Gln202Arg)
c.1952A>G (p.Gln651Arg)
c.2375A>G (p.Gln792Arg)
c.2051A>G (p.Gln684Arg)
11g.118488750A>TCA382832898KMT2Ac.4568A>T (p.Gln1523Leu)
c.380A>T (p.Gln127Leu)
c.248A>T (p.Gln83Leu)
c.4469A>T (p.Gln1490Leu)
c.4355A>T (p.Gln1452Leu)
c.605A>T (p.Gln202Leu)
c.1952A>T (p.Gln651Leu)
c.2375A>T (p.Gln792Leu)
c.2051A>T (p.Gln684Leu)
11g.118488751G>ACA6303873KMT2Ac.4569G>A (p.Gln1523=)
c.381G>A (p.Gln127=)
c.249G>A (p.Gln83=)
c.4470G>A (p.Gln1490=)
c.4356G>A (p.Gln1452=)
c.606G>A (p.Gln202=)
c.1953G>A (p.Gln651=)
c.2376G>A (p.Gln792=)
c.2052G>A (p.Gln684=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118488751G>CCA382832899KMT2Ac.4569G>C (p.Gln1523His)
c.381G>C (p.Gln127His)
c.249G>C (p.Gln83His)
c.4470G>C (p.Gln1490His)
c.4356G>C (p.Gln1452His)
c.606G>C (p.Gln202His)
c.1953G>C (p.Gln651His)
c.2376G>C (p.Gln792His)
c.2052G>C (p.Gln684His)
gnomAD v4
11g.118488751G=CA2003517717KMT2Ac.4569G= (p.Gln1523=)
c.381G= (p.Gln127=)
c.249G= (p.Gln83=)
c.4470G= (p.Gln1490=)
c.4356G= (p.Gln1452=)
c.606G= (p.Gln202=)
c.1953G= (p.Gln651=)
c.2376G= (p.Gln792=)
c.2052G= (p.Gln684=)
11g.118488751G>TCA382832900KMT2Ac.4569G>T (p.Gln1523His)
c.381G>T (p.Gln127His)
c.249G>T (p.Gln83His)
c.4470G>T (p.Gln1490His)
c.4356G>T (p.Gln1452His)
c.606G>T (p.Gln202His)
c.1953G>T (p.Gln651His)
c.2376G>T (p.Gln792His)
c.2052G>T (p.Gln684His)
11g.118488752G>ACA382832902KMT2Ac.4570G>A (p.Ala1524Thr)
c.382G>A (p.Ala128Thr)
c.250G>A (p.Ala84Thr)
c.4471G>A (p.Ala1491Thr)
c.4357G>A (p.Ala1453Thr)
c.607G>A (p.Ala203Thr)
c.1954G>A (p.Ala652Thr)
c.2377G>A (p.Ala793Thr)
c.2053G>A (p.Ala685Thr)
dbSNP
11g.118488752G>CCA382832903KMT2Ac.4570G>C (p.Ala1524Pro)
c.382G>C (p.Ala128Pro)
c.250G>C (p.Ala84Pro)
c.4471G>C (p.Ala1491Pro)
c.4357G>C (p.Ala1453Pro)
c.607G>C (p.Ala203Pro)
c.1954G>C (p.Ala652Pro)
c.2377G>C (p.Ala793Pro)
c.2053G>C (p.Ala685Pro)
ClinVar gnomAD v4
11g.118488752G>TCA382832904KMT2Ac.4570G>T (p.Ala1524Ser)
c.382G>T (p.Ala128Ser)
c.250G>T (p.Ala84Ser)
c.4471G>T (p.Ala1491Ser)
c.4357G>T (p.Ala1453Ser)
c.607G>T (p.Ala203Ser)
c.1954G>T (p.Ala652Ser)
c.2377G>T (p.Ala793Ser)
c.2053G>T (p.Ala685Ser)
11g.118488753C>ACA382832906KMT2Ac.4571C>A (p.Ala1524Asp)
c.383C>A (p.Ala128Asp)
c.251C>A (p.Ala84Asp)
c.4472C>A (p.Ala1491Asp)
c.4358C>A (p.Ala1453Asp)
c.608C>A (p.Ala203Asp)
c.1955C>A (p.Ala652Asp)
c.2378C>A (p.Ala793Asp)
c.2054C>A (p.Ala685Asp)
dbSNP gnomAD v3 gnomAD v4
11g.118488753C=CA2003517718KMT2Ac.4571C= (p.Ala1524=)
c.383C= (p.Ala128=)
c.251C= (p.Ala84=)
c.4472C= (p.Ala1491=)
c.4358C= (p.Ala1453=)
c.608C= (p.Ala203=)
c.1955C= (p.Ala652=)
c.2378C= (p.Ala793=)
c.2054C= (p.Ala685=)
11g.118488753C>GCA382832908KMT2Ac.4571C>G (p.Ala1524Gly)
c.383C>G (p.Ala128Gly)
c.251C>G (p.Ala84Gly)
c.4472C>G (p.Ala1491Gly)
c.4358C>G (p.Ala1453Gly)
c.608C>G (p.Ala203Gly)
c.1955C>G (p.Ala652Gly)
c.2378C>G (p.Ala793Gly)
c.2054C>G (p.Ala685Gly)
11g.118488753C>TCA382832915KMT2Ac.4571C>T (p.Ala1524Val)
c.383C>T (p.Ala128Val)
c.251C>T (p.Ala84Val)
c.4472C>T (p.Ala1491Val)
c.4358C>T (p.Ala1453Val)
c.608C>T (p.Ala203Val)
c.1955C>T (p.Ala652Val)
c.2378C>T (p.Ala793Val)
c.2054C>T (p.Ala685Val)
11g.118488754T>ACA477089593KMT2Ac.4572T>A (p.Ala1524=)
c.384T>A (p.Ala128=)
c.252T>A (p.Ala84=)
c.4473T>A (p.Ala1491=)
c.4359T>A (p.Ala1453=)
c.609T>A (p.Ala203=)
c.1956T>A (p.Ala652=)
c.2379T>A (p.Ala793=)
c.2055T>A (p.Ala685=)
11g.118488754T>CCA477089594KMT2Ac.4572T>C (p.Ala1524=)
c.384T>C (p.Ala128=)
c.252T>C (p.Ala84=)
c.4473T>C (p.Ala1491=)
c.4359T>C (p.Ala1453=)
c.609T>C (p.Ala203=)
c.1956T>C (p.Ala652=)
c.2379T>C (p.Ala793=)
c.2055T>C (p.Ala685=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.118488754T>GCA477089595KMT2Ac.4572T>G (p.Ala1524=)
c.384T>G (p.Ala128=)
c.252T>G (p.Ala84=)
c.4473T>G (p.Ala1491=)
c.4359T>G (p.Ala1453=)
c.609T>G (p.Ala203=)
c.1956T>G (p.Ala652=)
c.2379T>G (p.Ala793=)
c.2055T>G (p.Ala685=)
11g.118488754T=CA2003517719KMT2Ac.4572T= (p.Ala1524=)
c.384T= (p.Ala128=)
c.252T= (p.Ala84=)
c.4473T= (p.Ala1491=)
c.4359T= (p.Ala1453=)
c.609T= (p.Ala203=)
c.1956T= (p.Ala652=)
c.2379T= (p.Ala793=)
c.2055T= (p.Ala685=)
11g.118488755A>CCA382832919KMT2Ac.4573A>C (p.Thr1525Pro)
c.385A>C (p.Thr129Pro)
c.253A>C (p.Thr85Pro)
c.4474A>C (p.Thr1492Pro)
c.4360A>C (p.Thr1454Pro)
c.610A>C (p.Thr204Pro)
c.1957A>C (p.Thr653Pro)
c.2380A>C (p.Thr794Pro)
c.2056A>C (p.Thr686Pro)
11g.118488755A>GCA382832921KMT2Ac.4573A>G (p.Thr1525Ala)
c.385A>G (p.Thr129Ala)
c.253A>G (p.Thr85Ala)
c.4474A>G (p.Thr1492Ala)
c.4360A>G (p.Thr1454Ala)
c.610A>G (p.Thr204Ala)
c.1957A>G (p.Thr653Ala)
c.2380A>G (p.Thr794Ala)
c.2056A>G (p.Thr686Ala)
11g.118488755A>TCA382832918KMT2Ac.4573A>T (p.Thr1525Ser)
c.385A>T (p.Thr129Ser)
c.253A>T (p.Thr85Ser)
c.4474A>T (p.Thr1492Ser)
c.4360A>T (p.Thr1454Ser)
c.610A>T (p.Thr204Ser)
c.1957A>T (p.Thr653Ser)
c.2380A>T (p.Thr794Ser)
c.2056A>T (p.Thr686Ser)
11g.118488756C>ACA382832923KMT2Ac.4574C>A (p.Thr1525Lys)
c.386C>A (p.Thr129Lys)
c.254C>A (p.Thr85Lys)
c.4475C>A (p.Thr1492Lys)
c.4361C>A (p.Thr1454Lys)
c.611C>A (p.Thr204Lys)
c.1958C>A (p.Thr653Lys)
c.2381C>A (p.Thr794Lys)
c.2057C>A (p.Thr686Lys)
11g.118488756C>GCA382832927KMT2Ac.4574C>G (p.Thr1525Arg)
c.386C>G (p.Thr129Arg)
c.254C>G (p.Thr85Arg)
c.4475C>G (p.Thr1492Arg)
c.4361C>G (p.Thr1454Arg)
c.611C>G (p.Thr204Arg)
c.1958C>G (p.Thr653Arg)
c.2381C>G (p.Thr794Arg)
c.2057C>G (p.Thr686Arg)
11g.118488756C>TCA382832929KMT2Ac.4574C>T (p.Thr1525Ile)
c.386C>T (p.Thr129Ile)
c.254C>T (p.Thr85Ile)
c.4475C>T (p.Thr1492Ile)
c.4361C>T (p.Thr1454Ile)
c.611C>T (p.Thr204Ile)
c.1958C>T (p.Thr653Ile)
c.2381C>T (p.Thr794Ile)
c.2057C>T (p.Thr686Ile)
11g.118488757A>CCA477089596KMT2Ac.4575A>C (p.Thr1525=)
c.387A>C (p.Thr129=)
c.255A>C (p.Thr85=)
c.4476A>C (p.Thr1492=)
c.4362A>C (p.Thr1454=)
c.612A>C (p.Thr204=)
c.1959A>C (p.Thr653=)
c.2382A>C (p.Thr794=)
c.2058A>C (p.Thr686=)
11g.118488757A>GCA477089597KMT2Ac.4575A>G (p.Thr1525=)
c.387A>G (p.Thr129=)
c.255A>G (p.Thr85=)
c.4476A>G (p.Thr1492=)
c.4362A>G (p.Thr1454=)
c.612A>G (p.Thr204=)
c.1959A>G (p.Thr653=)
c.2382A>G (p.Thr794=)
c.2058A>G (p.Thr686=)
gnomAD v4
11g.118488757A>TCA477089598KMT2Ac.4575A>T (p.Thr1525=)
c.387A>T (p.Thr129=)
c.255A>T (p.Thr85=)
c.4476A>T (p.Thr1492=)
c.4362A>T (p.Thr1454=)
c.612A>T (p.Thr204=)
c.1959A>T (p.Thr653=)
c.2382A>T (p.Thr794=)
c.2058A>T (p.Thr686=)
gnomAD v4
11g.118488758A>CCA382832932KMT2Ac.4576A>C (p.Lys1526Gln)
c.388A>C (p.Lys130Gln)
c.256A>C (p.Lys86Gln)
c.4477A>C (p.Lys1493Gln)
c.4363A>C (p.Lys1455Gln)
c.613A>C (p.Lys205Gln)
c.1960A>C (p.Lys654Gln)
c.2383A>C (p.Lys795Gln)
c.2059A>C (p.Lys687Gln)
11g.118488758A>GCA382832935KMT2Ac.4576A>G (p.Lys1526Glu)
c.388A>G (p.Lys130Glu)
c.256A>G (p.Lys86Glu)
c.4477A>G (p.Lys1493Glu)
c.4363A>G (p.Lys1455Glu)
c.613A>G (p.Lys205Glu)
c.1960A>G (p.Lys654Glu)
c.2383A>G (p.Lys795Glu)
c.2059A>G (p.Lys687Glu)
11g.118488758A>TCA382832950KMT2Ac.4576A>T (p.Lys1526Ter)
c.388A>T (p.Lys130Ter)
c.256A>T (p.Lys86Ter)
c.4477A>T (p.Lys1493Ter)
c.4363A>T (p.Lys1455Ter)
c.613A>T (p.Lys205Ter)
c.1960A>T (p.Lys654Ter)
c.2383A>T (p.Lys795Ter)
c.2059A>T (p.Lys687Ter)
11g.118488759A>CCA382832958KMT2Ac.4577A>C (p.Lys1526Thr)
c.389A>C (p.Lys130Thr)
c.257A>C (p.Lys86Thr)
c.4478A>C (p.Lys1493Thr)
c.4364A>C (p.Lys1455Thr)
c.614A>C (p.Lys205Thr)
c.1961A>C (p.Lys654Thr)
c.2384A>C (p.Lys795Thr)
c.2060A>C (p.Lys687Thr)
11g.118488759A>GCA382832952KMT2Ac.4577A>G (p.Lys1526Arg)
c.389A>G (p.Lys130Arg)
c.257A>G (p.Lys86Arg)
c.4478A>G (p.Lys1493Arg)
c.4364A>G (p.Lys1455Arg)
c.614A>G (p.Lys205Arg)
c.1961A>G (p.Lys654Arg)
c.2384A>G (p.Lys795Arg)
c.2060A>G (p.Lys687Arg)
11g.118488759A>TCA382832955KMT2Ac.4577A>T (p.Lys1526Met)
c.389A>T (p.Lys130Met)
c.257A>T (p.Lys86Met)
c.4478A>T (p.Lys1493Met)
c.4364A>T (p.Lys1455Met)
c.614A>T (p.Lys205Met)
c.1961A>T (p.Lys654Met)
c.2384A>T (p.Lys795Met)
c.2060A>T (p.Lys687Met)
gnomAD v4
11g.118488760G>ACA477089599KMT2Ac.4578G>A (p.Lys1526=)
c.390G>A (p.Lys130=)
c.258G>A (p.Lys86=)
c.4479G>A (p.Lys1493=)
c.4365G>A (p.Lys1455=)
c.615G>A (p.Lys205=)
c.1962G>A (p.Lys654=)
c.2385G>A (p.Lys795=)
c.2061G>A (p.Lys687=)
dbSNP
11g.118488760G>CCA382832962KMT2Ac.4578G>C (p.Lys1526Asn)
c.390G>C (p.Lys130Asn)
c.258G>C (p.Lys86Asn)
c.4479G>C (p.Lys1493Asn)
c.4365G>C (p.Lys1455Asn)
c.615G>C (p.Lys205Asn)
c.1962G>C (p.Lys654Asn)
c.2385G>C (p.Lys795Asn)
c.2061G>C (p.Lys687Asn)
11g.118488760G=CA2003517721KMT2Ac.4578G= (p.Lys1526=)
c.390G= (p.Lys130=)
c.258G= (p.Lys86=)
c.4479G= (p.Lys1493=)
c.4365G= (p.Lys1455=)
c.615G= (p.Lys205=)
c.1962G= (p.Lys654=)
c.2385G= (p.Lys795=)
c.2061G= (p.Lys687=)
11g.118488760G>TCA382832964KMT2Ac.4578G>T (p.Lys1526Asn)
c.390G>T (p.Lys130Asn)
c.258G>T (p.Lys86Asn)
c.4479G>T (p.Lys1493Asn)
c.4365G>T (p.Lys1455Asn)
c.615G>T (p.Lys205Asn)
c.1962G>T (p.Lys654Asn)
c.2385G>T (p.Lys795Asn)
c.2061G>T (p.Lys687Asn)
11g.118488761G>ACA382832968KMT2Ac.4578+1G>A (n.4578+1G>A)
c.258+1G>A (n.258+1G>A)
c.4479+1G>A (n.4479+1G>A)
c.4365+1G>A (n.4365+1G>A)
c.615+1G>A (n.615+1G>A)
c.1962+1G>A (n.1962+1G>A)
c.2385+1G>A (n.2385+1G>A)
c.2061+1G>A (n.2061+1G>A)
dbSNP gnomAD v2 gnomAD v4
11g.118488761G>CCA382832970KMT2Ac.4578+1G>C (n.4578+1G>C)
c.258+1G>C (n.258+1G>C)
c.4479+1G>C (n.4479+1G>C)
c.4365+1G>C (n.4365+1G>C)
c.615+1G>C (n.615+1G>C)
c.1962+1G>C (n.1962+1G>C)
c.2385+1G>C (n.2385+1G>C)
c.2061+1G>C (n.2061+1G>C)
11g.118488761G=CA2003517723KMT2Ac.4578+1G= (n.4578+1G=)
c.258+1G= (n.258+1G=)
c.4479+1G= (n.4479+1G=)
c.4365+1G= (n.4365+1G=)
c.615+1G= (n.615+1G=)
c.1962+1G= (n.1962+1G=)
c.2385+1G= (n.2385+1G=)
c.2061+1G= (n.2061+1G=)
11g.118488761G>TCA382832974KMT2Ac.4578+1G>T (n.4578+1G>T)
c.258+1G>T (n.258+1G>T)
c.4479+1G>T (n.4479+1G>T)
c.4365+1G>T (n.4365+1G>T)
c.615+1G>T (n.615+1G>T)
c.1962+1G>T (n.1962+1G>T)
c.2385+1G>T (n.2385+1G>T)
c.2061+1G>T (n.2061+1G>T)
gnomAD v4
11g.118488761_118488768dupCA602140634KMT2Ac.4578+1_4578+8dup (n.4578+1_4578+8dup)
c.258+1_258+8dup (n.258+1_258+8dup)
c.4479+1_4479+8dup (n.4479+1_4479+8dup)
c.4365+1_4365+8dup (n.4365+1_4365+8dup)
c.615+1_615+8dup (n.615+1_615+8dup)
c.1962+1_1962+8dup (n.1962+1_1962+8dup)
c.2385+1_2385+8dup (n.2385+1_2385+8dup)
c.2061+1_2061+8dup (n.2061+1_2061+8dup)
dbSNP gnomAD v2
11g.118488762T>ACA382832983KMT2Ac.4578+2T>A (n.4578+2T>A)
c.258+2T>A (n.258+2T>A)
c.4479+2T>A (n.4479+2T>A)
c.4365+2T>A (n.4365+2T>A)
c.615+2T>A (n.615+2T>A)
c.1962+2T>A (n.1962+2T>A)
c.2385+2T>A (n.2385+2T>A)
c.2061+2T>A (n.2061+2T>A)
11g.118488762T>CCA382832999KMT2Ac.4578+2T>C (n.4578+2T>C)
c.258+2T>C (n.258+2T>C)
c.4479+2T>C (n.4479+2T>C)
c.4365+2T>C (n.4365+2T>C)
c.615+2T>C (n.615+2T>C)
c.1962+2T>C (n.1962+2T>C)
c.2385+2T>C (n.2385+2T>C)
c.2061+2T>C (n.2061+2T>C)
11g.118488762T>GCA382832987KMT2Ac.4578+2T>G (n.4578+2T>G)
c.258+2T>G (n.258+2T>G)
c.4479+2T>G (n.4479+2T>G)
c.4365+2T>G (n.4365+2T>G)
c.615+2T>G (n.615+2T>G)
c.1962+2T>G (n.1962+2T>G)
c.2385+2T>G (n.2385+2T>G)
c.2061+2T>G (n.2061+2T>G)
11g.118488763A=CA2003517725KMT2Ac.4578+3A= (n.4578+3A=)
c.258+3A= (n.258+3A=)
c.4479+3A= (n.4479+3A=)
c.4365+3A= (n.4365+3A=)
c.615+3A= (n.615+3A=)
c.1962+3A= (n.1962+3A=)
c.2385+3A= (n.2385+3A=)
c.2061+3A= (n.2061+3A=)
11g.118488763A>GCA2003517726KMT2Ac.4578+3A>G (n.4578+3A>G)
c.258+3A>G (n.258+3A>G)
c.4479+3A>G (n.4479+3A>G)
c.4365+3A>G (n.4365+3A>G)
c.615+3A>G (n.615+3A>G)
c.1962+3A>G (n.1962+3A>G)
c.2385+3A>G (n.2385+3A>G)
c.2061+3A>G (n.2061+3A>G)
ClinVar dbSNP gnomAD v4
11g.118488764C>ACA942725336KMT2Ac.4578+4C>A (n.4578+4C>A)
c.258+4C>A (n.258+4C>A)
c.4479+4C>A (n.4479+4C>A)
c.4365+4C>A (n.4365+4C>A)
c.615+4C>A (n.615+4C>A)
c.1962+4C>A (n.1962+4C>A)
c.2385+4C>A (n.2385+4C>A)
c.2061+4C>A (n.2061+4C>A)
dbSNP gnomAD v3 gnomAD v4
11g.118488764C=CA2003517727KMT2Ac.4578+4C= (n.4578+4C=)
c.258+4C= (n.258+4C=)
c.4479+4C= (n.4479+4C=)
c.4365+4C= (n.4365+4C=)
c.615+4C= (n.615+4C=)
c.1962+4C= (n.1962+4C=)
c.2385+4C= (n.2385+4C=)
c.2061+4C= (n.2061+4C=)
11g.118488765A=CA2003517728KMT2Ac.4578+5A= (n.4578+5A=)
c.258+5A= (n.258+5A=)
c.4479+5A= (n.4479+5A=)
c.4365+5A= (n.4365+5A=)
c.615+5A= (n.615+5A=)
c.1962+5A= (n.1962+5A=)
c.2385+5A= (n.2385+5A=)
c.2061+5A= (n.2061+5A=)
11g.118488765A>CCA602140635KMT2Ac.4578+5A>C (n.4578+5A>C)
c.258+5A>C (n.258+5A>C)
c.4479+5A>C (n.4479+5A>C)
c.4365+5A>C (n.4365+5A>C)
c.615+5A>C (n.615+5A>C)
c.1962+5A>C (n.1962+5A>C)
c.2385+5A>C (n.2385+5A>C)
c.2061+5A>C (n.2061+5A>C)
dbSNP gnomAD v2 gnomAD v4
11g.118488765A>TCA2616262072KMT2Ac.4578+5A>T (n.4578+5A>T)
c.258+5A>T (n.258+5A>T)
c.4479+5A>T (n.4479+5A>T)
c.4365+5A>T (n.4365+5A>T)
c.615+5A>T (n.615+5A>T)
c.1962+5A>T (n.1962+5A>T)
c.2385+5A>T (n.2385+5A>T)
c.2061+5A>T (n.2061+5A>T)
gnomAD v4
11g.118488769C=CA2003517730KMT2Ac.4578+9C= (n.4578+9C=)
c.258+9C= (n.258+9C=)
c.4479+9C= (n.4479+9C=)
c.4365+9C= (n.4365+9C=)
c.615+9C= (n.615+9C=)
c.1962+9C= (n.1962+9C=)
c.2385+9C= (n.2385+9C=)
c.2061+9C= (n.2061+9C=)
11g.118488769C>TCA602140636KMT2Ac.4578+9C>T (n.4578+9C>T)
c.258+9C>T (n.258+9C>T)
c.4479+9C>T (n.4479+9C>T)
c.4365+9C>T (n.4365+9C>T)
c.615+9C>T (n.615+9C>T)
c.1962+9C>T (n.1962+9C>T)
c.2385+9C>T (n.2385+9C>T)
c.2061+9C>T (n.2061+9C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118488769_118488770delinsCTCA2003517731KMT2Ac.4578+9_4578+10delinsCT (n.4578+9_4578+10delinsCT)
c.258+9_258+10delinsCT (n.258+9_258+10delinsCT)
c.4479+9_4479+10delinsCT (n.4479+9_4479+10delinsCT)
c.4365+9_4365+10delinsCT (n.4365+9_4365+10delinsCT)
c.615+9_615+10delinsCT (n.615+9_615+10delinsCT)
c.1962+9_1962+10delinsCT (n.1962+9_1962+10delinsCT)
c.2385+9_2385+10delinsCT (n.2385+9_2385+10delinsCT)
c.2061+9_2061+10delinsCT (n.2061+9_2061+10delinsCT)
11g.118488770T>CCA229530280KMT2Ac.4578+10T>C (n.4578+10T>C)
c.258+10T>C (n.258+10T>C)
c.4479+10T>C (n.4479+10T>C)
c.4365+10T>C (n.4365+10T>C)
c.615+10T>C (n.615+10T>C)
c.1962+10T>C (n.1962+10T>C)
c.2385+10T>C (n.2385+10T>C)
c.2061+10T>C (n.2061+10T>C)
ClinVar dbSNP gnomAD v4
11g.118488770T=CA2003517733KMT2Ac.4578+10T= (n.4578+10T=)
c.258+10T= (n.258+10T=)
c.4479+10T= (n.4479+10T=)
c.4365+10T= (n.4365+10T=)
c.615+10T= (n.615+10T=)
c.1962+10T= (n.1962+10T=)
c.2385+10T= (n.2385+10T=)
c.2061+10T= (n.2061+10T=)
11g.118488771delCA602140637KMT2Ac.4578+11del (n.4578+11del)
c.258+11del (n.258+11del)
c.4479+11del (n.4479+11del)
c.4365+11del (n.4365+11del)
c.615+11del (n.615+11del)
c.1962+11del (n.1962+11del)
c.2385+11del (n.2385+11del)
c.2061+11del (n.2061+11del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118488771T>CCA2793815040KMT2Ac.4578+11T>C (n.4578+11T>C)
c.258+11T>C (n.258+11T>C)
c.4479+11T>C (n.4479+11T>C)
c.4365+11T>C (n.4365+11T>C)
c.615+11T>C (n.615+11T>C)
c.1962+11T>C (n.1962+11T>C)
c.2385+11T>C (n.2385+11T>C)
c.2061+11T>C (n.2061+11T>C)
11g.118488772G>CCA2616262074KMT2Ac.4578+12G>C (n.4578+12G>C)
c.258+12G>C (n.258+12G>C)
c.4479+12G>C (n.4479+12G>C)
c.4365+12G>C (n.4365+12G>C)
c.615+12G>C (n.615+12G>C)
c.1962+12G>C (n.1962+12G>C)
c.2385+12G>C (n.2385+12G>C)
c.2061+12G>C (n.2061+12G>C)
gnomAD v4
11g.118488774T>CCA672353468KMT2Ac.4578+14T>C (n.4578+14T>C)
c.258+14T>C (n.258+14T>C)
c.4479+14T>C (n.4479+14T>C)
c.4365+14T>C (n.4365+14T>C)
c.615+14T>C (n.615+14T>C)
c.1962+14T>C (n.1962+14T>C)
c.2385+14T>C (n.2385+14T>C)
c.2061+14T>C (n.2061+14T>C)
dbSNP
11g.118488774T=CA2003517734KMT2Ac.4578+14T= (n.4578+14T=)
c.258+14T= (n.258+14T=)
c.4479+14T= (n.4479+14T=)
c.4365+14T= (n.4365+14T=)
c.615+14T= (n.615+14T=)
c.1962+14T= (n.1962+14T=)
c.2385+14T= (n.2385+14T=)
c.2061+14T= (n.2061+14T=)
11g.118488775A=CA2003517735KMT2Ac.4578+15A= (n.4578+15A=)
c.258+15A= (n.258+15A=)
c.4479+15A= (n.4479+15A=)
c.4365+15A= (n.4365+15A=)
c.615+15A= (n.615+15A=)
c.1962+15A= (n.1962+15A=)
c.2385+15A= (n.2385+15A=)
c.2061+15A= (n.2061+15A=)
11g.118488775A>CCA2003517737KMT2Ac.4578+15A>C (n.4578+15A>C)
c.258+15A>C (n.258+15A>C)
c.4479+15A>C (n.4479+15A>C)
c.4365+15A>C (n.4365+15A>C)
c.615+15A>C (n.615+15A>C)
c.1962+15A>C (n.1962+15A>C)
c.2385+15A>C (n.2385+15A>C)
c.2061+15A>C (n.2061+15A>C)
dbSNP gnomAD v4
11g.118488777T>CCA6303874KMT2Ac.4578+17T>C (n.4578+17T>C)
c.258+17T>C (n.258+17T>C)
c.4479+17T>C (n.4479+17T>C)
c.4365+17T>C (n.4365+17T>C)
c.615+17T>C (n.615+17T>C)
c.1962+17T>C (n.1962+17T>C)
c.2385+17T>C (n.2385+17T>C)
c.2061+17T>C (n.2061+17T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118488777T=CA2003517738KMT2Ac.4578+17T= (n.4578+17T=)
c.258+17T= (n.258+17T=)
c.4479+17T= (n.4479+17T=)
c.4365+17T= (n.4365+17T=)
c.615+17T= (n.615+17T=)
c.1962+17T= (n.1962+17T=)
c.2385+17T= (n.2385+17T=)
c.2061+17T= (n.2061+17T=)
11g.118488778A>GCA2574995472KMT2Ac.4578+18A>G (n.4578+18A>G)
c.258+18A>G (n.258+18A>G)
c.4479+18A>G (n.4479+18A>G)
c.4365+18A>G (n.4365+18A>G)
c.615+18A>G (n.615+18A>G)
c.1962+18A>G (n.1962+18A>G)
c.2385+18A>G (n.2385+18A>G)
c.2061+18A>G (n.2061+18A>G)
11g.118488779G>ACA2616262078KMT2Ac.4578+19G>A (n.4578+19G>A)
c.258+19G>A (n.258+19G>A)
c.4479+19G>A (n.4479+19G>A)
c.4365+19G>A (n.4365+19G>A)
c.615+19G>A (n.615+19G>A)
c.1962+19G>A (n.1962+19G>A)
c.2385+19G>A (n.2385+19G>A)
c.2061+19G>A (n.2061+19G>A)
ClinVar gnomAD v4
11g.118488781A=CA2003517739KMT2Ac.4578+21A= (n.4578+21A=)
c.258+21A= (n.258+21A=)
c.4479+21A= (n.4479+21A=)
c.4365+21A= (n.4365+21A=)
c.615+21A= (n.615+21A=)
c.1962+21A= (n.1962+21A=)
c.2385+21A= (n.2385+21A=)
c.2061+21A= (n.2061+21A=)
11g.118488781A>CCA2003517740KMT2Ac.4578+21A>C (n.4578+21A>C)
c.258+21A>C (n.258+21A>C)
c.4479+21A>C (n.4479+21A>C)
c.4365+21A>C (n.4365+21A>C)
c.615+21A>C (n.615+21A>C)
c.1962+21A>C (n.1962+21A>C)
c.2385+21A>C (n.2385+21A>C)
c.2061+21A>C (n.2061+21A>C)
dbSNP
11g.118488782_118488783delinsCTCA2003517741KMT2Ac.4578+22_4578+23delinsCT (n.4578+22_4578+23delinsCT)
c.258+22_258+23delinsCT (n.258+22_258+23delinsCT)
c.4479+22_4479+23delinsCT (n.4479+22_4479+23delinsCT)
c.4365+22_4365+23delinsCT (n.4365+22_4365+23delinsCT)
c.615+22_615+23delinsCT (n.615+22_615+23delinsCT)
c.1962+22_1962+23delinsCT (n.1962+22_1962+23delinsCT)
c.2385+22_2385+23delinsCT (n.2385+22_2385+23delinsCT)
c.2061+22_2061+23delinsCT (n.2061+22_2061+23delinsCT)
11g.118488783delCA6303875KMT2Ac.4578+23del (n.4578+23del)
c.258+23del (n.258+23del)
c.4479+23del (n.4479+23del)
c.4365+23del (n.4365+23del)
c.615+23del (n.615+23del)
c.1962+23del (n.1962+23del)
c.2385+23del (n.2385+23del)
c.2061+23del (n.2061+23del)
dbSNP ExAC
11g.118488784_118488788delinsACAGCCA2003517743KMT2Ac.4578+24_4578+28delinsACAGC (n.4578+24_4578+28delinsACAGC)
c.258+24_258+28delinsACAGC (n.258+24_258+28delinsACAGC)
c.4479+24_4479+28delinsACAGC (n.4479+24_4479+28delinsACAGC)
c.4365+24_4365+28delinsACAGC (n.4365+24_4365+28delinsACAGC)
c.615+24_615+28delinsACAGC (n.615+24_615+28delinsACAGC)
c.1962+24_1962+28delinsACAGC (n.1962+24_1962+28delinsACAGC)
c.2385+24_2385+28delinsACAGC (n.2385+24_2385+28delinsACAGC)
c.2061+24_2061+28delinsACAGC (n.2061+24_2061+28delinsACAGC)
11g.118488785_118488788delCA6303876KMT2Ac.4578+25_4578+28del (n.4578+25_4578+28del)
c.258+25_258+28del (n.258+25_258+28del)
c.4479+25_4479+28del (n.4479+25_4479+28del)
c.4365+25_4365+28del (n.4365+25_4365+28del)
c.615+25_615+28del (n.615+25_615+28del)
c.1962+25_1962+28del (n.1962+25_1962+28del)
c.2385+25_2385+28del (n.2385+25_2385+28del)
c.2061+25_2061+28del (n.2061+25_2061+28del)
dbSNP ExAC gnomAD v2
11g.118488787G>CCA672353476KMT2Ac.4578+27G>C (n.4578+27G>C)
c.258+27G>C (n.258+27G>C)
c.4479+27G>C (n.4479+27G>C)
c.4365+27G>C (n.4365+27G>C)
c.615+27G>C (n.615+27G>C)
c.1962+27G>C (n.1962+27G>C)
c.2385+27G>C (n.2385+27G>C)
c.2061+27G>C (n.2061+27G>C)
dbSNP gnomAD v3 gnomAD v4
11g.118488787G=CA2003517745KMT2Ac.4578+27G= (n.4578+27G=)
c.258+27G= (n.258+27G=)
c.4479+27G= (n.4479+27G=)
c.4365+27G= (n.4365+27G=)
c.615+27G= (n.615+27G=)
c.1962+27G= (n.1962+27G=)
c.2385+27G= (n.2385+27G=)
c.2061+27G= (n.2061+27G=)
11g.118488787G>TCA672353471KMT2Ac.4578+27G>T (n.4578+27G>T)
c.258+27G>T (n.258+27G>T)
c.4479+27G>T (n.4479+27G>T)
c.4365+27G>T (n.4365+27G>T)
c.615+27G>T (n.615+27G>T)
c.1962+27G>T (n.1962+27G>T)
c.2385+27G>T (n.2385+27G>T)
c.2061+27G>T (n.2061+27G>T)
dbSNP
11g.118488788C>TCA2616262080KMT2Ac.4578+28C>T (n.4578+28C>T)
c.258+28C>T (n.258+28C>T)
c.4479+28C>T (n.4479+28C>T)
c.4365+28C>T (n.4365+28C>T)
c.615+28C>T (n.615+28C>T)
c.1962+28C>T (n.1962+28C>T)
c.2385+28C>T (n.2385+28C>T)
c.2061+28C>T (n.2061+28C>T)
gnomAD v4
11g.118488789_118488790delinsTGCA2003517746KMT2Ac.4578+29_4578+30delinsTG (n.4578+29_4578+30delinsTG)
c.258+29_258+30delinsTG (n.258+29_258+30delinsTG)
c.4479+29_4479+30delinsTG (n.4479+29_4479+30delinsTG)
c.4365+29_4365+30delinsTG (n.4365+29_4365+30delinsTG)
c.615+29_615+30delinsTG (n.615+29_615+30delinsTG)
c.1962+29_1962+30delinsTG (n.1962+29_1962+30delinsTG)
c.2385+29_2385+30delinsTG (n.2385+29_2385+30delinsTG)
c.2061+29_2061+30delinsTG (n.2061+29_2061+30delinsTG)
11g.118488790G>CCA2724946670KMT2Ac.4578+30G>C (n.4578+30G>C)
c.258+30G>C (n.258+30G>C)
c.4479+30G>C (n.4479+30G>C)
c.4365+30G>C (n.4365+30G>C)
c.615+30G>C (n.615+30G>C)
c.1962+30G>C (n.1962+30G>C)
c.2385+30G>C (n.2385+30G>C)
c.2061+30G>C (n.2061+30G>C)
dbSNP
11g.118488790G=CA2003517747KMT2Ac.4578+30G= (n.4578+30G=)
c.258+30G= (n.258+30G=)
c.4479+30G= (n.4479+30G=)
c.4365+30G= (n.4365+30G=)
c.615+30G= (n.615+30G=)
c.1962+30G= (n.1962+30G=)
c.2385+30G= (n.2385+30G=)
c.2061+30G= (n.2061+30G=)
11g.118488790G>TCA6303877KMT2Ac.4578+30G>T (n.4578+30G>T)
c.258+30G>T (n.258+30G>T)
c.4479+30G>T (n.4479+30G>T)
c.4365+30G>T (n.4365+30G>T)
c.615+30G>T (n.615+30G>T)
c.1962+30G>T (n.1962+30G>T)
c.2385+30G>T (n.2385+30G>T)
c.2061+30G>T (n.2061+30G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118488792delCA602140638KMT2Ac.4578+32del (n.4578+32del)
c.258+32del (n.258+32del)
c.4479+32del (n.4479+32del)
c.4365+32del (n.4365+32del)
c.615+32del (n.615+32del)
c.1962+32del (n.1962+32del)
c.2385+32del (n.2385+32del)
c.2061+32del (n.2061+32del)
dbSNP gnomAD v2 gnomAD v4
11g.118488792G>ACA229530323KMT2Ac.4578+32G>A (n.4578+32G>A)
c.258+32G>A (n.258+32G>A)
c.4479+32G>A (n.4479+32G>A)
c.4365+32G>A (n.4365+32G>A)
c.615+32G>A (n.615+32G>A)
c.1962+32G>A (n.1962+32G>A)
c.2385+32G>A (n.2385+32G>A)
c.2061+32G>A (n.2061+32G>A)
dbSNP
11g.118488792G=CA2003517749KMT2Ac.4578+32G= (n.4578+32G=)
c.258+32G= (n.258+32G=)
c.4479+32G= (n.4479+32G=)
c.4365+32G= (n.4365+32G=)
c.615+32G= (n.615+32G=)
c.1962+32G= (n.1962+32G=)
c.2385+32G= (n.2385+32G=)
c.2061+32G= (n.2061+32G=)
11g.118488793C>ACA2616262083KMT2Ac.4578+33C>A (n.4578+33C>A)
c.258+33C>A (n.258+33C>A)
c.4479+33C>A (n.4479+33C>A)
c.4365+33C>A (n.4365+33C>A)
c.615+33C>A (n.615+33C>A)
c.1962+33C>A (n.1962+33C>A)
c.2385+33C>A (n.2385+33C>A)
c.2061+33C>A (n.2061+33C>A)
gnomAD v4
11g.118488793C>TCA2616262084KMT2Ac.4578+33C>T (n.4578+33C>T)
c.258+33C>T (n.258+33C>T)
c.4479+33C>T (n.4479+33C>T)
c.4365+33C>T (n.4365+33C>T)
c.615+33C>T (n.615+33C>T)
c.1962+33C>T (n.1962+33C>T)
c.2385+33C>T (n.2385+33C>T)
c.2061+33C>T (n.2061+33C>T)
gnomAD v4
11g.118488794C>ACA2574995473KMT2Ac.4578+34C>A (n.4578+34C>A)
c.258+34C>A (n.258+34C>A)
c.4479+34C>A (n.4479+34C>A)
c.4365+34C>A (n.4365+34C>A)
c.615+34C>A (n.615+34C>A)
c.1962+34C>A (n.1962+34C>A)
c.2385+34C>A (n.2385+34C>A)
c.2061+34C>A (n.2061+34C>A)
gnomAD v4
11g.118488794C=CA2003517750KMT2Ac.4578+34C= (n.4578+34C=)
c.258+34C= (n.258+34C=)
c.4479+34C= (n.4479+34C=)
c.4365+34C= (n.4365+34C=)
c.615+34C= (n.615+34C=)
c.1962+34C= (n.1962+34C=)
c.2385+34C= (n.2385+34C=)
c.2061+34C= (n.2061+34C=)
11g.118488794C>TCA2003517751KMT2Ac.4578+34C>T (n.4578+34C>T)
c.258+34C>T (n.258+34C>T)
c.4479+34C>T (n.4479+34C>T)
c.4365+34C>T (n.4365+34C>T)
c.615+34C>T (n.615+34C>T)
c.1962+34C>T (n.1962+34C>T)
c.2385+34C>T (n.2385+34C>T)
c.2061+34C>T (n.2061+34C>T)
dbSNP
11g.118488803_118488817delCA2725067110KMT2Ac.4578+43_4578+57del (n.4578+43_4578+57del)
c.258+43_258+57del (n.258+43_258+57del)
c.4479+43_4479+57del (n.4479+43_4479+57del)
c.4365+43_4365+57del (n.4365+43_4365+57del)
c.615+43_615+57del (n.615+43_615+57del)
c.1962+43_1962+57del (n.1962+43_1962+57del)
c.2385+43_2385+57del (n.2385+43_2385+57del)
c.2061+43_2061+57del (n.2061+43_2061+57del)
dbSNP
11g.118488796C>GCA2725067155KMT2Ac.4578+36C>G (n.4578+36C>G)
c.258+36C>G (n.258+36C>G)
c.4479+36C>G (n.4479+36C>G)
c.4365+36C>G (n.4365+36C>G)
c.615+36C>G (n.615+36C>G)
c.1962+36C>G (n.1962+36C>G)
c.2385+36C>G (n.2385+36C>G)
c.2061+36C>G (n.2061+36C>G)
dbSNP
11g.118488798G>ACA229530327KMT2Ac.4578+38G>A (n.4578+38G>A)
c.258+38G>A (n.258+38G>A)
c.4479+38G>A (n.4479+38G>A)
c.4365+38G>A (n.4365+38G>A)
c.615+38G>A (n.615+38G>A)
c.1962+38G>A (n.1962+38G>A)
c.2385+38G>A (n.2385+38G>A)
c.2061+38G>A (n.2061+38G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118488798G=CA2003517753KMT2Ac.4578+38G= (n.4578+38G=)
c.258+38G= (n.258+38G=)
c.4479+38G= (n.4479+38G=)
c.4365+38G= (n.4365+38G=)
c.615+38G= (n.615+38G=)
c.1962+38G= (n.1962+38G=)
c.2385+38G= (n.2385+38G=)
c.2061+38G= (n.2061+38G=)
11g.118488798G>TCA654547840KMT2Ac.4578+38G>T (n.4578+38G>T)
c.258+38G>T (n.258+38G>T)
c.4479+38G>T (n.4479+38G>T)
c.4365+38G>T (n.4365+38G>T)
c.615+38G>T (n.615+38G>T)
c.1962+38G>T (n.1962+38G>T)
c.2385+38G>T (n.2385+38G>T)
c.2061+38G>T (n.2061+38G>T)
COSMIC
11g.118488799T>CCA2793815045KMT2Ac.4578+39T>C (n.4578+39T>C)
c.258+39T>C (n.258+39T>C)
c.4479+39T>C (n.4479+39T>C)
c.4365+39T>C (n.4365+39T>C)
c.615+39T>C (n.615+39T>C)
c.1962+39T>C (n.1962+39T>C)
c.2385+39T>C (n.2385+39T>C)
c.2061+39T>C (n.2061+39T>C)
11g.118488800A=CA2003517754KMT2Ac.4578+40A= (n.4578+40A=)
c.258+40A= (n.258+40A=)
c.4479+40A= (n.4479+40A=)
c.4365+40A= (n.4365+40A=)
c.615+40A= (n.615+40A=)
c.1962+40A= (n.1962+40A=)
c.2385+40A= (n.2385+40A=)
c.2061+40A= (n.2061+40A=)
11g.118488800A>GCA6303878KMT2Ac.4578+40A>G (n.4578+40A>G)
c.258+40A>G (n.258+40A>G)
c.4479+40A>G (n.4479+40A>G)
c.4365+40A>G (n.4365+40A>G)
c.615+40A>G (n.615+40A>G)
c.1962+40A>G (n.1962+40A>G)
c.2385+40A>G (n.2385+40A>G)
c.2061+40A>G (n.2061+40A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118488801T>GCA2616262090KMT2Ac.4578+41T>G (n.4578+41T>G)
c.258+41T>G (n.258+41T>G)
c.4479+41T>G (n.4479+41T>G)
c.4365+41T>G (n.4365+41T>G)
c.615+41T>G (n.615+41T>G)
c.1962+41T>G (n.1962+41T>G)
c.2385+41T>G (n.2385+41T>G)
c.2061+41T>G (n.2061+41T>G)
gnomAD v4
11g.118488802C>ACA2616262091KMT2Ac.4578+42C>A (n.4578+42C>A)
c.258+42C>A (n.258+42C>A)
c.4479+42C>A (n.4479+42C>A)
c.4365+42C>A (n.4365+42C>A)
c.615+42C>A (n.615+42C>A)
c.1962+42C>A (n.1962+42C>A)
c.2385+42C>A (n.2385+42C>A)
c.2061+42C>A (n.2061+42C>A)
gnomAD v4
11g.118488802C>GCA2725067195KMT2Ac.4578+42C>G (n.4578+42C>G)
c.258+42C>G (n.258+42C>G)
c.4479+42C>G (n.4479+42C>G)
c.4365+42C>G (n.4365+42C>G)
c.615+42C>G (n.615+42C>G)
c.1962+42C>G (n.1962+42C>G)
c.2385+42C>G (n.2385+42C>G)
c.2061+42C>G (n.2061+42C>G)
dbSNP
11g.118488803A=CA2003517755KMT2Ac.4578+43A= (n.4578+43A=)
c.258+43A= (n.258+43A=)
c.4479+43A= (n.4479+43A=)
c.4365+43A= (n.4365+43A=)
c.615+43A= (n.615+43A=)
c.1962+43A= (n.1962+43A=)
c.2385+43A= (n.2385+43A=)
c.2061+43A= (n.2061+43A=)
11g.118488803A>GCA602140639KMT2Ac.4578+43A>G (n.4578+43A>G)
c.258+43A>G (n.258+43A>G)
c.4479+43A>G (n.4479+43A>G)
c.4365+43A>G (n.4365+43A>G)
c.615+43A>G (n.615+43A>G)
c.1962+43A>G (n.1962+43A>G)
c.2385+43A>G (n.2385+43A>G)
c.2061+43A>G (n.2061+43A>G)
dbSNP gnomAD v2 gnomAD v4
11g.118488804G>ACA2003517757KMT2Ac.4578+44G>A (n.4578+44G>A)
c.258+44G>A (n.258+44G>A)
c.4479+44G>A (n.4479+44G>A)
c.4365+44G>A (n.4365+44G>A)
c.615+44G>A (n.615+44G>A)
c.1962+44G>A (n.1962+44G>A)
c.2385+44G>A (n.2385+44G>A)
c.2061+44G>A (n.2061+44G>A)
dbSNP
11g.118488804G=CA2003517756KMT2Ac.4578+44G= (n.4578+44G=)
c.258+44G= (n.258+44G=)
c.4479+44G= (n.4479+44G=)
c.4365+44G= (n.4365+44G=)
c.615+44G= (n.615+44G=)
c.1962+44G= (n.1962+44G=)
c.2385+44G= (n.2385+44G=)
c.2061+44G= (n.2061+44G=)
11g.118488805T>ACA2616262094KMT2Ac.4578+45T>A (n.4578+45T>A)
c.258+45T>A (n.258+45T>A)
c.4479+45T>A (n.4479+45T>A)
c.4365+45T>A (n.4365+45T>A)
c.615+45T>A (n.615+45T>A)
c.1962+45T>A (n.1962+45T>A)
c.2385+45T>A (n.2385+45T>A)
c.2061+45T>A (n.2061+45T>A)
dbSNP gnomAD v4
11g.118488805T>CCA602140640KMT2Ac.4578+45T>C (n.4578+45T>C)
c.258+45T>C (n.258+45T>C)
c.4479+45T>C (n.4479+45T>C)
c.4365+45T>C (n.4365+45T>C)
c.615+45T>C (n.615+45T>C)
c.1962+45T>C (n.1962+45T>C)
c.2385+45T>C (n.2385+45T>C)
c.2061+45T>C (n.2061+45T>C)
dbSNP gnomAD v2 gnomAD v4
11g.118488805T>GCA672353480KMT2Ac.4578+45T>G (n.4578+45T>G)
c.258+45T>G (n.258+45T>G)
c.4479+45T>G (n.4479+45T>G)
c.4365+45T>G (n.4365+45T>G)
c.615+45T>G (n.615+45T>G)
c.1962+45T>G (n.1962+45T>G)
c.2385+45T>G (n.2385+45T>G)
c.2061+45T>G (n.2061+45T>G)
dbSNP gnomAD v4
11g.118488805T=CA2003517759KMT2Ac.4578+45T= (n.4578+45T=)
c.258+45T= (n.258+45T=)
c.4479+45T= (n.4479+45T=)
c.4365+45T= (n.4365+45T=)
c.615+45T= (n.615+45T=)
c.1962+45T= (n.1962+45T=)
c.2385+45T= (n.2385+45T=)
c.2061+45T= (n.2061+45T=)
11g.118488807G>CCA2616262100KMT2Ac.4578+47G>C (n.4578+47G>C)
c.258+47G>C (n.258+47G>C)
c.4479+47G>C (n.4479+47G>C)
c.4365+47G>C (n.4365+47G>C)
c.615+47G>C (n.615+47G>C)
c.1962+47G>C (n.1962+47G>C)
c.2385+47G>C (n.2385+47G>C)
c.2061+47G>C (n.2061+47G>C)
gnomAD v4
11g.118488808G>ACA2003517761KMT2Ac.4578+48G>A (n.4578+48G>A)
c.258+48G>A (n.258+48G>A)
c.4479+48G>A (n.4479+48G>A)
c.4365+48G>A (n.4365+48G>A)
c.615+48G>A (n.615+48G>A)
c.1962+48G>A (n.1962+48G>A)
c.2385+48G>A (n.2385+48G>A)
c.2061+48G>A (n.2061+48G>A)
dbSNP gnomAD v4
11g.118488808G=CA2003517760KMT2Ac.4578+48G= (n.4578+48G=)
c.258+48G= (n.258+48G=)
c.4479+48G= (n.4479+48G=)
c.4365+48G= (n.4365+48G=)
c.615+48G= (n.615+48G=)
c.1962+48G= (n.1962+48G=)
c.2385+48G= (n.2385+48G=)
c.2061+48G= (n.2061+48G=)
11g.118488809T>ACA2725067276KMT2Ac.4578+49T>A (n.4578+49T>A)
c.258+49T>A (n.258+49T>A)
c.4479+49T>A (n.4479+49T>A)
c.4365+49T>A (n.4365+49T>A)
c.615+49T>A (n.615+49T>A)
c.1962+49T>A (n.1962+49T>A)
c.2385+49T>A (n.2385+49T>A)
c.2061+49T>A (n.2061+49T>A)
dbSNP
11g.118488810delCA2574995474KMT2Ac.4578+50del (n.4578+50del)
c.258+50del (n.258+50del)
c.4479+50del (n.4479+50del)
c.4365+50del (n.4365+50del)
c.615+50del (n.615+50del)
c.1962+50del (n.1962+50del)
c.2385+50del (n.2385+50del)
c.2061+50del (n.2061+50del)
11g.118488809_118488811delinsTTCCA2003517762KMT2Ac.4578+49_4578+51delinsTTC (n.4578+49_4578+51delinsTTC)
c.258+49_258+51delinsTTC (n.258+49_258+51delinsTTC)
c.4479+49_4479+51delinsTTC (n.4479+49_4479+51delinsTTC)
c.4365+49_4365+51delinsTTC (n.4365+49_4365+51delinsTTC)
c.615+49_615+51delinsTTC (n.615+49_615+51delinsTTC)
c.1962+49_1962+51delinsTTC (n.1962+49_1962+51delinsTTC)
c.2385+49_2385+51delinsTTC (n.2385+49_2385+51delinsTTC)
c.2061+49_2061+51delinsTTC (n.2061+49_2061+51delinsTTC)
11g.118488811_118488812delCA2003517763KMT2Ac.4578+51_4578+52del (n.4578+51_4578+52del)
c.258+51_258+52del (n.258+51_258+52del)
c.4479+51_4479+52del (n.4479+51_4479+52del)
c.4365+51_4365+52del (n.4365+51_4365+52del)
c.615+51_615+52del (n.615+51_615+52del)
c.1962+51_1962+52del (n.1962+51_1962+52del)
c.2385+51_2385+52del (n.2385+51_2385+52del)
c.2061+51_2061+52del (n.2061+51_2061+52del)
dbSNP
11g.118488811C>GCA2616262102KMT2Ac.4578+51C>G (n.4578+51C>G)
c.258+51C>G (n.258+51C>G)
c.4479+51C>G (n.4479+51C>G)
c.4365+51C>G (n.4365+51C>G)
c.615+51C>G (n.615+51C>G)
c.1962+51C>G (n.1962+51C>G)
c.2385+51C>G (n.2385+51C>G)
c.2061+51C>G (n.2061+51C>G)
gnomAD v4
11g.118488811C>TCA2616262103KMT2Ac.4578+51C>T (n.4578+51C>T)
c.258+51C>T (n.258+51C>T)
c.4479+51C>T (n.4479+51C>T)
c.4365+51C>T (n.4365+51C>T)
c.615+51C>T (n.615+51C>T)
c.1962+51C>T (n.1962+51C>T)
c.2385+51C>T (n.2385+51C>T)
c.2061+51C>T (n.2061+51C>T)
gnomAD v4
11g.118488812T>CCA6303879KMT2Ac.4578+52T>C (n.4578+52T>C)
c.258+52T>C (n.258+52T>C)
c.4479+52T>C (n.4479+52T>C)
c.4365+52T>C (n.4365+52T>C)
c.615+52T>C (n.615+52T>C)
c.1962+52T>C (n.1962+52T>C)
c.2385+52T>C (n.2385+52T>C)
c.2061+52T>C (n.2061+52T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118488812T=CA2003517764KMT2Ac.4578+52T= (n.4578+52T=)
c.258+52T= (n.258+52T=)
c.4479+52T= (n.4479+52T=)
c.4365+52T= (n.4365+52T=)
c.615+52T= (n.615+52T=)
c.1962+52T= (n.1962+52T=)
c.2385+52T= (n.2385+52T=)
c.2061+52T= (n.2061+52T=)
11g.118488814T>CCA602140641KMT2Ac.4578+54T>C (n.4578+54T>C)
c.258+54T>C (n.258+54T>C)
c.4479+54T>C (n.4479+54T>C)
c.4365+54T>C (n.4365+54T>C)
c.615+54T>C (n.615+54T>C)
c.1962+54T>C (n.1962+54T>C)
c.2385+54T>C (n.2385+54T>C)
c.2061+54T>C (n.2061+54T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118488814T=CA2003517766KMT2Ac.4578+54T= (n.4578+54T=)
c.258+54T= (n.258+54T=)
c.4479+54T= (n.4479+54T=)
c.4365+54T= (n.4365+54T=)
c.615+54T= (n.615+54T=)
c.1962+54T= (n.1962+54T=)
c.2385+54T= (n.2385+54T=)
c.2061+54T= (n.2061+54T=)
11g.118488816T>ACA2616262111KMT2Ac.4578+56T>A (n.4578+56T>A)
c.258+56T>A (n.258+56T>A)
c.4479+56T>A (n.4479+56T>A)
c.4365+56T>A (n.4365+56T>A)
c.615+56T>A (n.615+56T>A)
c.1962+56T>A (n.1962+56T>A)
c.2385+56T>A (n.2385+56T>A)
c.2061+56T>A (n.2061+56T>A)
gnomAD v4
11g.118488816T>CCA672353485KMT2Ac.4578+56T>C (n.4578+56T>C)
c.258+56T>C (n.258+56T>C)
c.4479+56T>C (n.4479+56T>C)
c.4365+56T>C (n.4365+56T>C)
c.615+56T>C (n.615+56T>C)
c.1962+56T>C (n.1962+56T>C)
c.2385+56T>C (n.2385+56T>C)
c.2061+56T>C (n.2061+56T>C)
dbSNP gnomAD v4
11g.118488816T>GCA2574995475KMT2Ac.4578+56T>G (n.4578+56T>G)
c.258+56T>G (n.258+56T>G)
c.4479+56T>G (n.4479+56T>G)
c.4365+56T>G (n.4365+56T>G)
c.615+56T>G (n.615+56T>G)
c.1962+56T>G (n.1962+56T>G)
c.2385+56T>G (n.2385+56T>G)
c.2061+56T>G (n.2061+56T>G)
gnomAD v4
11g.118488816T=CA2003517767KMT2Ac.4578+56T= (n.4578+56T=)
c.258+56T= (n.258+56T=)
c.4479+56T= (n.4479+56T=)
c.4365+56T= (n.4365+56T=)
c.615+56T= (n.615+56T=)
c.1962+56T= (n.1962+56T=)
c.2385+56T= (n.2385+56T=)
c.2061+56T= (n.2061+56T=)
11g.118488817C>ACA2616262114KMT2Ac.4578+57C>A (n.4578+57C>A)
c.258+57C>A (n.258+57C>A)
c.4479+57C>A (n.4479+57C>A)
c.4365+57C>A (n.4365+57C>A)
c.615+57C>A (n.615+57C>A)
c.1962+57C>A (n.1962+57C>A)
c.2385+57C>A (n.2385+57C>A)
c.2061+57C>A (n.2061+57C>A)
gnomAD v4
11g.118488818C>ACA2616262115KMT2Ac.4578+58C>A (n.4578+58C>A)
c.258+58C>A (n.258+58C>A)
c.4479+58C>A (n.4479+58C>A)
c.4365+58C>A (n.4365+58C>A)
c.615+58C>A (n.615+58C>A)
c.1962+58C>A (n.1962+58C>A)
c.2385+58C>A (n.2385+58C>A)
c.2061+58C>A (n.2061+58C>A)
gnomAD v4
11g.118488818C=CA2003517768KMT2Ac.4578+58C= (n.4578+58C=)
c.258+58C= (n.258+58C=)
c.4479+58C= (n.4479+58C=)
c.4365+58C= (n.4365+58C=)
c.615+58C= (n.615+58C=)
c.1962+58C= (n.1962+58C=)
c.2385+58C= (n.2385+58C=)
c.2061+58C= (n.2061+58C=)
11g.118488818C>TCA672353487KMT2Ac.4578+58C>T (n.4578+58C>T)
c.258+58C>T (n.258+58C>T)
c.4479+58C>T (n.4479+58C>T)
c.4365+58C>T (n.4365+58C>T)
c.615+58C>T (n.615+58C>T)
c.1962+58C>T (n.1962+58C>T)
c.2385+58C>T (n.2385+58C>T)
c.2061+58C>T (n.2061+58C>T)
dbSNP gnomAD v4
11g.118488819C>ACA2574995476KMT2Ac.4578+59C>A (n.4578+59C>A)
c.258+59C>A (n.258+59C>A)
c.4479+59C>A (n.4479+59C>A)
c.4365+59C>A (n.4365+59C>A)
c.615+59C>A (n.615+59C>A)
c.1962+59C>A (n.1962+59C>A)
c.2385+59C>A (n.2385+59C>A)
c.2061+59C>A (n.2061+59C>A)
gnomAD v4
11g.118488819C=CA2003517770KMT2Ac.4578+59C= (n.4578+59C=)
c.258+59C= (n.258+59C=)
c.4479+59C= (n.4479+59C=)
c.4365+59C= (n.4365+59C=)
c.615+59C= (n.615+59C=)
c.1962+59C= (n.1962+59C=)
c.2385+59C= (n.2385+59C=)
c.2061+59C= (n.2061+59C=)
11g.118488819C>GCA672353493KMT2Ac.4578+59C>G (n.4578+59C>G)
c.258+59C>G (n.258+59C>G)
c.4479+59C>G (n.4479+59C>G)
c.4365+59C>G (n.4365+59C>G)
c.615+59C>G (n.615+59C>G)
c.1962+59C>G (n.1962+59C>G)
c.2385+59C>G (n.2385+59C>G)
c.2061+59C>G (n.2061+59C>G)
dbSNP gnomAD v3 gnomAD v4
11g.118488819C>TCA602140642KMT2Ac.4578+59C>T (n.4578+59C>T)
c.258+59C>T (n.258+59C>T)
c.4479+59C>T (n.4479+59C>T)
c.4365+59C>T (n.4365+59C>T)
c.615+59C>T (n.615+59C>T)
c.1962+59C>T (n.1962+59C>T)
c.2385+59C>T (n.2385+59C>T)
c.2061+59C>T (n.2061+59C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118488820T>ACA2574995477KMT2Ac.4578+60T>A (n.4578+60T>A)
c.258+60T>A (n.258+60T>A)
c.4479+60T>A (n.4479+60T>A)
c.4365+60T>A (n.4365+60T>A)
c.615+60T>A (n.615+60T>A)
c.1962+60T>A (n.1962+60T>A)
c.2385+60T>A (n.2385+60T>A)
c.2061+60T>A (n.2061+60T>A)
11g.118488820T>CCA2616262121KMT2Ac.4578+60T>C (n.4578+60T>C)
c.258+60T>C (n.258+60T>C)
c.4479+60T>C (n.4479+60T>C)
c.4365+60T>C (n.4365+60T>C)
c.615+60T>C (n.615+60T>C)
c.1962+60T>C (n.1962+60T>C)
c.2385+60T>C (n.2385+60T>C)
c.2061+60T>C (n.2061+60T>C)
gnomAD v4
11g.118488821G>ACA602140643KMT2Ac.4578+61G>A (n.4578+61G>A)
c.258+61G>A (n.258+61G>A)
c.4479+61G>A (n.4479+61G>A)
c.4365+61G>A (n.4365+61G>A)
c.615+61G>A (n.615+61G>A)
c.1962+61G>A (n.1962+61G>A)
c.2385+61G>A (n.2385+61G>A)
c.2061+61G>A (n.2061+61G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118488821G=CA2003517771KMT2Ac.4578+61G= (n.4578+61G=)
c.258+61G= (n.258+61G=)
c.4479+61G= (n.4479+61G=)
c.4365+61G= (n.4365+61G=)
c.615+61G= (n.615+61G=)
c.1962+61G= (n.1962+61G=)
c.2385+61G= (n.2385+61G=)
c.2061+61G= (n.2061+61G=)
11g.118488822G>CCA654547841KMT2Ac.4578+62G>C (n.4578+62G>C)
c.258+62G>C (n.258+62G>C)
c.4479+62G>C (n.4479+62G>C)
c.4365+62G>C (n.4365+62G>C)
c.615+62G>C (n.615+62G>C)
c.1962+62G>C (n.1962+62G>C)
c.2385+62G>C (n.2385+62G>C)
c.2061+62G>C (n.2061+62G>C)
COSMIC COSMIC
11g.118488822G>TCA2616262124KMT2Ac.4578+62G>T (n.4578+62G>T)
c.258+62G>T (n.258+62G>T)
c.4479+62G>T (n.4479+62G>T)
c.4365+62G>T (n.4365+62G>T)
c.615+62G>T (n.615+62G>T)
c.1962+62G>T (n.1962+62G>T)
c.2385+62G>T (n.2385+62G>T)
c.2061+62G>T (n.2061+62G>T)
gnomAD v4

Number of alleles fetched