Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.49039221C>ACA384742497KMT2Dn.65+1G>T
c.8366+1G>T (n.8366+1G>T)
c.8375+1G>T (n.8375+1G>T)
c.2039+1G>T (n.2039+1G>T)
c.8363+1G>T (n.8363+1G>T)
n.78+1G>T
c.8372+1G>T (n.8372+1G>T)
c.8354+1G>T (n.8354+1G>T)
c.8282+1G>T (n.8282+1G>T)
n.10695+1G>T
n.9684+1G>T
 ClinVar dbSNP
12g.49039221C=CA2034959014KMT2Dn.65+1G=
c.8366+1G= (n.8366+1G=)
c.8375+1G= (n.8375+1G=)
c.2039+1G= (n.2039+1G=)
c.8363+1G= (n.8363+1G=)
n.78+1G=
c.8372+1G= (n.8372+1G=)
c.8354+1G= (n.8354+1G=)
c.8282+1G= (n.8282+1G=)
n.10695+1G=
n.9684+1G=
12g.49039221C>GCA384742495KMT2Dn.65+1G>C
c.8366+1G>C (n.8366+1G>C)
c.8375+1G>C (n.8375+1G>C)
c.2039+1G>C (n.2039+1G>C)
c.8363+1G>C (n.8363+1G>C)
n.78+1G>C
c.8372+1G>C (n.8372+1G>C)
c.8354+1G>C (n.8354+1G>C)
c.8282+1G>C (n.8282+1G>C)
n.10695+1G>C
n.9684+1G>C
12g.49039221C>TCA16042799KMT2Dn.65+1G>A
c.8366+1G>A (n.8366+1G>A)
c.8375+1G>A (n.8375+1G>A)
c.2039+1G>A (n.2039+1G>A)
c.8363+1G>A (n.8363+1G>A)
n.78+1G>A
c.8372+1G>A (n.8372+1G>A)
c.8354+1G>A (n.8354+1G>A)
c.8282+1G>A (n.8282+1G>A)
n.10695+1G>A
n.9684+1G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.49039222C>ACA384742499KMT2Dn.65G>T
c.8366G>T (p.Arg2789Leu)
c.8375G>T (p.Arg2792Leu)
c.2385G>T
c.2039G>T (p.Arg680Leu)
c.2475G>T
c.8363G>T (p.Arg2788Leu)
n.78G>T
c.8372G>T (p.Arg2791Leu)
c.8354G>T (p.Arg2785Leu)
c.8282G>T (p.Arg2761Leu)
n.10695G>T
n.9684G>T
 dbSNP gnomAD v3 gnomAD v4
12g.49039222C=CA2034959017KMT2Dn.65G=
c.8366G= (p.Arg2789=)
c.8375G= (p.Arg2792=)
c.2385G=
c.2039G= (p.Arg680=)
c.2475G=
c.8363G= (p.Arg2788=)
n.78G=
c.8372G= (p.Arg2791=)
c.8354G= (p.Arg2785=)
c.8282G= (p.Arg2761=)
n.10695G=
n.9684G=
12g.49039222C>GCA384742501KMT2Dn.65G>C
c.8366G>C (p.Arg2789Pro)
c.8375G>C (p.Arg2792Pro)
c.2385G>C
c.2039G>C (p.Arg680Pro)
c.2475G>C
c.8363G>C (p.Arg2788Pro)
n.78G>C
c.8372G>C (p.Arg2791Pro)
c.8354G>C (p.Arg2785Pro)
c.8282G>C (p.Arg2761Pro)
n.10695G>C
n.9684G>C
12g.49039222C>TCA384742502KMT2Dn.65G>A
c.8366G>A (p.Arg2789Gln)
c.8375G>A (p.Arg2792Gln)
c.2385G>A
c.2039G>A (p.Arg680His)
c.2475G>A
c.8363G>A (p.Arg2788Gln)
n.78G>A
c.8372G>A (p.Arg2791Gln)
c.8354G>A (p.Arg2785Gln)
c.8282G>A (p.Arg2761Gln)
n.10695G>A
n.9684G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.49039223G>ACA6546850KMT2Dn.64C>T
c.8365C>T (p.Arg2789Trp)
c.8374C>T (p.Arg2792Trp)
c.2384C>T
c.2038C>T (p.Arg680Cys)
c.2474C>T
c.8362C>T (p.Arg2788Trp)
n.77C>T
c.8371C>T (p.Arg2791Trp)
c.8353C>T (p.Arg2785Trp)
c.8281C>T (p.Arg2761Trp)
n.10694C>T
n.9683C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.49039223G>CCA384742507KMT2Dn.64C>G
c.8365C>G (p.Arg2789Gly)
c.8374C>G (p.Arg2792Gly)
c.2384C>G
c.2038C>G (p.Arg680Gly)
c.2474C>G
c.8362C>G (p.Arg2788Gly)
n.77C>G
c.8371C>G (p.Arg2791Gly)
c.8353C>G (p.Arg2785Gly)
c.8281C>G (p.Arg2761Gly)
n.10694C>G
n.9683C>G
 dbSNP
12g.49039223G=CA2034959022KMT2Dn.64C=
c.8365C= (p.Arg2789=)
c.8374C= (p.Arg2792=)
c.2384C=
c.2038C= (p.Arg680=)
c.2474C=
c.8362C= (p.Arg2788=)
n.77C=
c.8371C= (p.Arg2791=)
c.8353C= (p.Arg2785=)
c.8281C= (p.Arg2761=)
n.10694C=
n.9683C=
12g.49039223G>TCA479710522KMT2Dn.64C>A
c.8365C>A (p.Arg2789=)
c.8374C>A (p.Arg2792=)
c.2384C>A
c.2038C>A (p.Arg680Ser)
c.2474C>A
c.8362C>A (p.Arg2788=)
n.77C>A
c.8371C>A (p.Arg2791=)
c.8353C>A (p.Arg2785=)
c.8281C>A (p.Arg2761=)
n.10694C>A
n.9683C>A
 gnomAD v4
12g.49039224G>ACA479710523KMT2Dn.63C>T
c.8364C>T (p.Ser2788=)
c.8373C>T (p.Ser2791=)
c.2383C>T
c.2037C>T (p.Ser679=)
c.2473C>T
c.8361C>T (p.Ser2787=)
n.76C>T
c.8370C>T (p.Ser2790=)
c.8352C>T (p.Ser2784=)
c.8280C>T (p.Ser2760=)
n.10693C>T
n.9682C>T
 dbSNP
12g.49039224G>CCA384742511KMT2Dn.63C>G
c.8364C>G (p.Ser2788Arg)
c.8373C>G (p.Ser2791Arg)
c.2383C>G
c.2037C>G (p.Ser679Arg)
c.2473C>G
c.8361C>G (p.Ser2787Arg)
n.76C>G
c.8370C>G (p.Ser2790Arg)
c.8352C>G (p.Ser2784Arg)
c.8280C>G (p.Ser2760Arg)
n.10693C>G
n.9682C>G
 dbSNP gnomAD v4
12g.49039224G>TCA384742513KMT2Dn.63C>A
c.8364C>A (p.Ser2788Arg)
c.8373C>A (p.Ser2791Arg)
c.2383C>A
c.2037C>A (p.Ser679Arg)
c.2473C>A
c.8361C>A (p.Ser2787Arg)
n.76C>A
c.8370C>A (p.Ser2790Arg)
c.8352C>A (p.Ser2784Arg)
c.8280C>A (p.Ser2760Arg)
n.10693C>A
n.9682C>A
12g.49039225C>ACA384742515KMT2Dn.62G>T
c.8363G>T (p.Ser2788Ile)
c.8372G>T (p.Ser2791Ile)
c.2382G>T
c.2036G>T (p.Ser679Ile)
c.2472G>T
c.8360G>T (p.Ser2787Ile)
n.75G>T
c.8369G>T (p.Ser2790Ile)
c.8351G>T (p.Ser2784Ile)
c.8279G>T (p.Ser2760Ile)
n.10692G>T
n.9681G>T
12g.49039225C=CA2034959025KMT2Dn.62G=
c.8363G= (p.Ser2788=)
c.8372G= (p.Ser2791=)
c.2382G=
c.2036G= (p.Ser679=)
c.2472G=
c.8360G= (p.Ser2787=)
n.75G=
c.8369G= (p.Ser2790=)
c.8351G= (p.Ser2784=)
c.8279G= (p.Ser2760=)
n.10692G=
n.9681G=
12g.49039225C>GCA384742518KMT2Dn.62G>C
c.8363G>C (p.Ser2788Thr)
c.8372G>C (p.Ser2791Thr)
c.2382G>C
c.2036G>C (p.Ser679Thr)
c.2472G>C
c.8360G>C (p.Ser2787Thr)
n.75G>C
c.8369G>C (p.Ser2790Thr)
c.8351G>C (p.Ser2784Thr)
c.8279G>C (p.Ser2760Thr)
n.10692G>C
n.9681G>C
12g.49039225C>TCA384742519KMT2Dn.62G>A
c.8363G>A (p.Ser2788Asn)
c.8372G>A (p.Ser2791Asn)
c.2382G>A
c.2036G>A (p.Ser679Asn)
c.2472G>A
c.8360G>A (p.Ser2787Asn)
n.75G>A
c.8369G>A (p.Ser2790Asn)
c.8351G>A (p.Ser2784Asn)
c.8279G>A (p.Ser2760Asn)
n.10692G>A
n.9681G>A
 dbSNP
12g.49039226T>ACA384742523KMT2Dn.61A>T
c.8362A>T (p.Ser2788Cys)
c.8371A>T (p.Ser2791Cys)
c.2381A>T
c.2035A>T (p.Ser679Cys)
c.2471A>T
c.8359A>T (p.Ser2787Cys)
n.74A>T
c.8368A>T (p.Ser2790Cys)
c.8350A>T (p.Ser2784Cys)
c.8278A>T (p.Ser2760Cys)
n.10691A>T
n.9680A>T
12g.49039226T>CCA384742533KMT2Dn.61A>G
c.8362A>G (p.Ser2788Gly)
c.8371A>G (p.Ser2791Gly)
c.2381A>G
c.2035A>G (p.Ser679Gly)
c.2471A>G
c.8359A>G (p.Ser2787Gly)
n.74A>G
c.8368A>G (p.Ser2790Gly)
c.8350A>G (p.Ser2784Gly)
c.8278A>G (p.Ser2760Gly)
n.10691A>G
n.9680A>G
12g.49039226T>GCA384742535KMT2Dn.61A>C
c.8362A>C (p.Ser2788Arg)
c.8371A>C (p.Ser2791Arg)
c.2381A>C
c.2035A>C (p.Ser679Arg)
c.2471A>C
c.8359A>C (p.Ser2787Arg)
n.74A>C
c.8368A>C (p.Ser2790Arg)
c.8350A>C (p.Ser2784Arg)
c.8278A>C (p.Ser2760Arg)
n.10691A>C
n.9680A>C
12g.49039227G>ACA479710524KMT2Dn.60C>T
c.8361C>T (p.Asn2787=)
c.8370C>T (p.Asn2790=)
c.2380C>T
c.2034C>T (p.Asn678=)
c.2470C>T
c.8358C>T (p.Asn2786=)
n.73C>T
c.8367C>T (p.Asn2789=)
c.8349C>T (p.Asn2783=)
c.8277C>T (p.Asn2759=)
n.10690C>T
n.9679C>T
 dbSNP gnomAD v4
12g.49039227G>CCA384742539KMT2Dn.60C>G
c.8361C>G (p.Asn2787Lys)
c.8370C>G (p.Asn2790Lys)
c.2380C>G
c.2034C>G (p.Asn678Lys)
c.2470C>G
c.8358C>G (p.Asn2786Lys)
n.73C>G
c.8367C>G (p.Asn2789Lys)
c.8349C>G (p.Asn2783Lys)
c.8277C>G (p.Asn2759Lys)
n.10690C>G
n.9679C>G
12g.49039227G>TCA384742538KMT2Dn.60C>A
c.8361C>A (p.Asn2787Lys)
c.8370C>A (p.Asn2790Lys)
c.2380C>A
c.2034C>A (p.Asn678Lys)
c.2470C>A
c.8358C>A (p.Asn2786Lys)
n.73C>A
c.8367C>A (p.Asn2789Lys)
c.8349C>A (p.Asn2783Lys)
c.8277C>A (p.Asn2759Lys)
n.10690C>A
n.9679C>A
12g.49039228T>ACA384742542KMT2Dn.59A>T
c.8360A>T (p.Asn2787Ile)
c.8369A>T (p.Asn2790Ile)
c.2379A>T
c.2033A>T (p.Asn678Ile)
c.2469A>T
c.8357A>T (p.Asn2786Ile)
n.72A>T
c.8366A>T (p.Asn2789Ile)
c.8348A>T (p.Asn2783Ile)
c.8276A>T (p.Asn2759Ile)
n.10689A>T
n.9678A>T
12g.49039228T>CCA384742546KMT2Dn.59A>G
c.8360A>G (p.Asn2787Ser)
c.8369A>G (p.Asn2790Ser)
c.2379A>G
c.2033A>G (p.Asn678Ser)
c.2469A>G
c.8357A>G (p.Asn2786Ser)
n.72A>G
c.8366A>G (p.Asn2789Ser)
c.8348A>G (p.Asn2783Ser)
c.8276A>G (p.Asn2759Ser)
n.10689A>G
n.9678A>G
 gnomAD v4
12g.49039228T>GCA271662KMT2Dn.59A>C
c.8360A>C (p.Asn2787Thr)
c.8369A>C (p.Asn2790Thr)
c.2379A>C
c.2033A>C (p.Asn678Thr)
c.2469A>C
c.8357A>C (p.Asn2786Thr)
n.72A>C
c.8366A>C (p.Asn2789Thr)
c.8348A>C (p.Asn2783Thr)
c.8276A>C (p.Asn2759Thr)
n.10689A>C
n.9678A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039228T=CA2034959029KMT2Dn.59A=
c.8360A= (p.Asn2787=)
c.8369A= (p.Asn2790=)
c.2379A=
c.2033A= (p.Asn678=)
c.2469A=
c.8357A= (p.Asn2786=)
n.72A=
c.8366A= (p.Asn2789=)
c.8348A= (p.Asn2783=)
c.8276A= (p.Asn2759=)
n.10689A=
n.9678A=
12g.49039229T>ACA384742549KMT2Dn.58A>T
c.8359A>T (p.Asn2787Tyr)
c.8368A>T (p.Asn2790Tyr)
c.2378A>T
c.2032A>T (p.Asn678Tyr)
c.2468A>T
c.8356A>T (p.Asn2786Tyr)
n.71A>T
c.8365A>T (p.Asn2789Tyr)
c.8347A>T (p.Asn2783Tyr)
c.8275A>T (p.Asn2759Tyr)
n.10688A>T
n.9677A>T
12g.49039229T>CCA384742553KMT2Dn.58A>G
c.8359A>G (p.Asn2787Asp)
c.8368A>G (p.Asn2790Asp)
c.2378A>G
c.2032A>G (p.Asn678Asp)
c.2468A>G
c.8356A>G (p.Asn2786Asp)
n.71A>G
c.8365A>G (p.Asn2789Asp)
c.8347A>G (p.Asn2783Asp)
c.8275A>G (p.Asn2759Asp)
n.10688A>G
n.9677A>G
12g.49039229T>GCA384742555KMT2Dn.58A>C
c.8359A>C (p.Asn2787His)
c.8368A>C (p.Asn2790His)
c.2378A>C
c.2032A>C (p.Asn678His)
c.2468A>C
c.8356A>C (p.Asn2786His)
n.71A>C
c.8365A>C (p.Asn2789His)
c.8347A>C (p.Asn2783His)
c.8275A>C (p.Asn2759His)
n.10688A>C
n.9677A>C
12g.49039230C>ACA479710527KMT2Dn.57G>T
c.8358G>T (p.Val2786=)
c.8367G>T (p.Val2789=)
c.2377G>T
c.2031G>T (p.Val677=)
c.2467G>T
c.8355G>T (p.Val2785=)
n.70G>T
c.8364G>T (p.Val2788=)
c.8346G>T (p.Val2782=)
c.8274G>T (p.Val2758=)
n.10687G>T
n.9676G>T
12g.49039230C=CA2034959036KMT2Dn.57G=
c.8358G= (p.Val2786=)
c.8367G= (p.Val2789=)
c.2377G=
c.2031G= (p.Val677=)
c.2467G=
c.8355G= (p.Val2785=)
n.70G=
c.8364G= (p.Val2788=)
c.8346G= (p.Val2782=)
c.8274G= (p.Val2758=)
n.10687G=
n.9676G=
12g.49039230C>GCA479710528KMT2Dn.57G>C
c.8358G>C (p.Val2786=)
c.8367G>C (p.Val2789=)
c.2377G>C
c.2031G>C (p.Val677=)
c.2467G>C
c.8355G>C (p.Val2785=)
n.70G>C
c.8364G>C (p.Val2788=)
c.8346G>C (p.Val2782=)
c.8274G>C (p.Val2758=)
n.10687G>C
n.9676G>C
 ClinVar gnomAD v4
12g.49039230C>TCA6546851KMT2Dn.57G>A
c.8358G>A (p.Val2786=)
c.8367G>A (p.Val2789=)
c.2377G>A
c.2031G>A (p.Val677=)
c.2467G>A
c.8355G>A (p.Val2785=)
n.70G>A
c.8364G>A (p.Val2788=)
c.8346G>A (p.Val2782=)
c.8274G>A (p.Val2758=)
n.10687G>A
n.9676G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039231A>CCA384742560KMT2Dn.56T>G
c.8357T>G (p.Val2786Gly)
c.8366T>G (p.Val2789Gly)
c.2376T>G
c.2030T>G (p.Val677Gly)
c.2466T>G
c.8354T>G (p.Val2785Gly)
n.69T>G
c.8363T>G (p.Val2788Gly)
c.8345T>G (p.Val2782Gly)
c.8273T>G (p.Val2758Gly)
n.10686T>G
n.9675T>G
12g.49039231A>GCA384742563KMT2Dn.56T>C
c.8357T>C (p.Val2786Ala)
c.8366T>C (p.Val2789Ala)
c.2376T>C
c.2030T>C (p.Val677Ala)
c.2466T>C
c.8354T>C (p.Val2785Ala)
n.69T>C
c.8363T>C (p.Val2788Ala)
c.8345T>C (p.Val2782Ala)
c.8273T>C (p.Val2758Ala)
n.10686T>C
n.9675T>C
 gnomAD v4
12g.49039231A>TCA384742564KMT2Dn.56T>A
c.8357T>A (p.Val2786Glu)
c.8366T>A (p.Val2789Glu)
c.2376T>A
c.2030T>A (p.Val677Glu)
c.2466T>A
c.8354T>A (p.Val2785Glu)
n.69T>A
c.8363T>A (p.Val2788Glu)
c.8345T>A (p.Val2782Glu)
c.8273T>A (p.Val2758Glu)
n.10686T>A
n.9675T>A
12g.49039232C>ACA384742567KMT2Dn.55G>T
c.8356G>T (p.Val2786Leu)
c.8365G>T (p.Val2789Leu)
c.2375G>T
c.2029G>T (p.Val677Leu)
c.2465G>T
c.8353G>T (p.Val2785Leu)
n.68G>T
c.8362G>T (p.Val2788Leu)
c.8344G>T (p.Val2782Leu)
c.8272G>T (p.Val2758Leu)
n.10685G>T
n.9674G>T
12g.49039232C=CA2034959039KMT2Dn.55G=
c.8356G= (p.Val2786=)
c.8365G= (p.Val2789=)
c.2375G=
c.2029G= (p.Val677=)
c.2465G=
c.8353G= (p.Val2785=)
n.68G=
c.8362G= (p.Val2788=)
c.8344G= (p.Val2782=)
c.8272G= (p.Val2758=)
n.10685G=
n.9674G=
12g.49039232C>GCA384742570KMT2Dn.55G>C
c.8356G>C (p.Val2786Leu)
c.8365G>C (p.Val2789Leu)
c.2375G>C
c.2029G>C (p.Val677Leu)
c.2465G>C
c.8353G>C (p.Val2785Leu)
n.68G>C
c.8362G>C (p.Val2788Leu)
c.8344G>C (p.Val2782Leu)
c.8272G>C (p.Val2758Leu)
n.10685G>C
n.9674G>C
12g.49039232C>TCA6546852KMT2Dn.55G>A
c.8356G>A (p.Val2786Met)
c.8365G>A (p.Val2789Met)
c.2375G>A
c.2029G>A (p.Val677Met)
c.2465G>A
c.8353G>A (p.Val2785Met)
n.68G>A
c.8362G>A (p.Val2788Met)
c.8344G>A (p.Val2782Met)
c.8272G>A (p.Val2758Met)
n.10685G>A
n.9674G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039233A=CA2034959042KMT2Dn.54T=
c.8355T= (p.Asp2785=)
c.8364T= (p.Asp2788=)
c.2374T=
c.2028T= (p.Asp676=)
c.2464T=
c.8352T= (p.Asp2784=)
n.67T=
c.8361T= (p.Asp2787=)
c.8343T= (p.Asp2781=)
c.8271T= (p.Asp2757=)
n.10684T=
n.9673T=
12g.49039233A>CCA384742575KMT2Dn.54T>G
c.8355T>G (p.Asp2785Glu)
c.8364T>G (p.Asp2788Glu)
c.2374T>G
c.2028T>G (p.Asp676Glu)
c.2464T>G
c.8352T>G (p.Asp2784Glu)
n.67T>G
c.8361T>G (p.Asp2787Glu)
c.8343T>G (p.Asp2781Glu)
c.8271T>G (p.Asp2757Glu)
n.10684T>G
n.9673T>G
12g.49039233A>GCA6546853KMT2Dn.54T>C
c.8355T>C (p.Asp2785=)
c.8364T>C (p.Asp2788=)
c.2374T>C
c.2028T>C (p.Asp676=)
c.2464T>C
c.8352T>C (p.Asp2784=)
n.67T>C
c.8361T>C (p.Asp2787=)
c.8343T>C (p.Asp2781=)
c.8271T>C (p.Asp2757=)
n.10684T>C
n.9673T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039233A>TCA384742574KMT2Dn.54T>A
c.8355T>A (p.Asp2785Glu)
c.8364T>A (p.Asp2788Glu)
c.2374T>A
c.2028T>A (p.Asp676Glu)
c.2464T>A
c.8352T>A (p.Asp2784Glu)
n.67T>A
c.8361T>A (p.Asp2787Glu)
c.8343T>A (p.Asp2781Glu)
c.8271T>A (p.Asp2757Glu)
n.10684T>A
n.9673T>A
12g.49039234T>ACA384742576KMT2Dn.53A>T
c.8354A>T (p.Asp2785Val)
c.8363A>T (p.Asp2788Val)
c.2373A>T
c.2027A>T (p.Asp676Val)
c.2463A>T
c.8351A>T (p.Asp2784Val)
n.66A>T
c.8360A>T (p.Asp2787Val)
c.8342A>T (p.Asp2781Val)
c.8270A>T (p.Asp2757Val)
n.10683A>T
n.9672A>T
12g.49039234T>CCA384742577KMT2Dn.53A>G
c.8354A>G (p.Asp2785Gly)
c.8363A>G (p.Asp2788Gly)
c.2373A>G
c.2027A>G (p.Asp676Gly)
c.2463A>G
c.8351A>G (p.Asp2784Gly)
n.66A>G
c.8360A>G (p.Asp2787Gly)
c.8342A>G (p.Asp2781Gly)
c.8270A>G (p.Asp2757Gly)
n.10683A>G
n.9672A>G
 gnomAD v4
12g.49039234T>GCA384742578KMT2Dn.53A>C
c.8354A>C (p.Asp2785Ala)
c.8363A>C (p.Asp2788Ala)
c.2373A>C
c.2027A>C (p.Asp676Ala)
c.2463A>C
c.8351A>C (p.Asp2784Ala)
n.66A>C
c.8360A>C (p.Asp2787Ala)
c.8342A>C (p.Asp2781Ala)
c.8270A>C (p.Asp2757Ala)
n.10683A>C
n.9672A>C
12g.49039235C>ACA384742580KMT2Dn.52G>T
c.8353G>T (p.Asp2785Tyr)
c.8362G>T (p.Asp2788Tyr)
c.2372G>T
c.2026G>T (p.Asp676Tyr)
c.2462G>T
c.8350G>T (p.Asp2784Tyr)
n.65G>T
c.8359G>T (p.Asp2787Tyr)
c.8341G>T (p.Asp2781Tyr)
c.8269G>T (p.Asp2757Tyr)
n.10682G>T
n.9671G>T
12g.49039235C>GCA384742582KMT2Dn.52G>C
c.8353G>C (p.Asp2785His)
c.8362G>C (p.Asp2788His)
c.2372G>C
c.2026G>C (p.Asp676His)
c.2462G>C
c.8350G>C (p.Asp2784His)
n.65G>C
c.8359G>C (p.Asp2787His)
c.8341G>C (p.Asp2781His)
c.8269G>C (p.Asp2757His)
n.10682G>C
n.9671G>C
12g.49039235C>TCA384742585KMT2Dn.52G>A
c.8353G>A (p.Asp2785Asn)
c.8362G>A (p.Asp2788Asn)
c.2372G>A
c.2026G>A (p.Asp676Asn)
c.2462G>A
c.8350G>A (p.Asp2784Asn)
n.65G>A
c.8359G>A (p.Asp2787Asn)
c.8341G>A (p.Asp2781Asn)
c.8269G>A (p.Asp2757Asn)
n.10682G>A
n.9671G>A
12g.49039236C>ACA384742587KMT2Dn.51G>T
c.8352G>T (p.Met2784Ile)
c.8361G>T (p.Met2787Ile)
c.2371G>T
c.2025G>T (p.Met675Ile)
c.2461G>T
c.8349G>T (p.Met2783Ile)
n.64G>T
c.8358G>T (p.Met2786Ile)
c.8340G>T (p.Met2780Ile)
c.8268G>T (p.Met2756Ile)
n.10681G>T
n.9670G>T
 dbSNP gnomAD v3 gnomAD v4
12g.49039236C=CA2034959046KMT2Dn.51G=
c.8352G= (p.Met2784=)
c.8361G= (p.Met2787=)
c.2371G=
c.2025G= (p.Met675=)
c.2461G=
c.8349G= (p.Met2783=)
n.64G=
c.8358G= (p.Met2786=)
c.8340G= (p.Met2780=)
c.8268G= (p.Met2756=)
n.10681G=
n.9670G=
12g.49039236C>GCA384742590KMT2Dn.51G>C
c.8352G>C (p.Met2784Ile)
c.8361G>C (p.Met2787Ile)
c.2371G>C
c.2025G>C (p.Met675Ile)
c.2461G>C
c.8349G>C (p.Met2783Ile)
n.64G>C
c.8358G>C (p.Met2786Ile)
c.8340G>C (p.Met2780Ile)
c.8268G>C (p.Met2756Ile)
n.10681G>C
n.9670G>C
 gnomAD v4
12g.49039236C>TCA384742591KMT2Dn.51G>A
c.8352G>A (p.Met2784Ile)
c.8361G>A (p.Met2787Ile)
c.2371G>A
c.2025G>A (p.Met675Ile)
c.2461G>A
c.8349G>A (p.Met2783Ile)
n.64G>A
c.8358G>A (p.Met2786Ile)
c.8340G>A (p.Met2780Ile)
c.8268G>A (p.Met2756Ile)
n.10681G>A
n.9670G>A
12g.49039236_49039238delinsCATCA2034959045KMT2Dn.49_51delinsATG
c.8350_8352delinsATG (p.Met2784=)
c.8359_8361delinsATG (p.Met2787=)
c.2369_2371delinsATG
c.2023_2025delinsATG (p.Met675=)
c.2459_2461delinsATG
c.8347_8349delinsATG (p.Met2783=)
n.62_64delinsATG
c.8356_8358delinsATG (p.Met2786=)
c.8338_8340delinsATG (p.Met2780=)
c.8266_8268delinsATG (p.Met2756=)
n.10679_10681delinsATG
n.9668_9670delinsATG
12g.49039237A>CCA384742593KMT2Dn.50T>G
c.8351T>G (p.Met2784Arg)
c.8360T>G (p.Met2787Arg)
c.2370T>G
c.2024T>G (p.Met675Arg)
c.2460T>G
c.8348T>G (p.Met2783Arg)
n.63T>G
c.8357T>G (p.Met2786Arg)
c.8339T>G (p.Met2780Arg)
c.8267T>G (p.Met2756Arg)
n.10680T>G
n.9669T>G
12g.49039237A>GCA384742594KMT2Dn.50T>C
c.8351T>C (p.Met2784Thr)
c.8360T>C (p.Met2787Thr)
c.2370T>C
c.2024T>C (p.Met675Thr)
c.2460T>C
c.8348T>C (p.Met2783Thr)
n.63T>C
c.8357T>C (p.Met2786Thr)
c.8339T>C (p.Met2780Thr)
c.8267T>C (p.Met2756Thr)
n.10680T>C
n.9669T>C
12g.49039237A>TCA384742596KMT2Dn.50T>A
c.8351T>A (p.Met2784Lys)
c.8360T>A (p.Met2787Lys)
c.2370T>A
c.2024T>A (p.Met675Lys)
c.2460T>A
c.8348T>A (p.Met2783Lys)
n.63T>A
c.8357T>A (p.Met2786Lys)
c.8339T>A (p.Met2780Lys)
c.8267T>A (p.Met2756Lys)
n.10680T>A
n.9669T>A
12g.49039238_49039239delCA658823396KMT2Dn.49_50del
c.8350_8351del (p.Met2784GlyfsTer?)
c.8359_8360del (p.Met2787GlyfsTer?)
c.2369_2370del
c.2023_2024del (p.Met675GlyfsTer?)
c.2459_2460del
c.8347_8348del (p.Met2783GlyfsTer?)
n.62_63del
c.8356_8357del (p.Met2786GlyfsTer?)
c.8338_8339del (p.Met2780GlyfsTer?)
c.8266_8267del (p.Met2756GlyfsTer?)
n.10679_10680del
n.9668_9669del
 ClinVar dbSNP
12g.49039238T>ACA384742601KMT2Dn.49A>T
c.8350A>T (p.Met2784Leu)
c.8359A>T (p.Met2787Leu)
c.2369A>T
c.2023A>T (p.Met675Leu)
c.2459A>T
c.8347A>T (p.Met2783Leu)
n.62A>T
c.8356A>T (p.Met2786Leu)
c.8338A>T (p.Met2780Leu)
c.8266A>T (p.Met2756Leu)
n.10679A>T
n.9668A>T
12g.49039238T>CCA6546854KMT2Dn.49A>G
c.8350A>G (p.Met2784Val)
c.8359A>G (p.Met2787Val)
c.2369A>G
c.2023A>G (p.Met675Val)
c.2459A>G
c.8347A>G (p.Met2783Val)
n.62A>G
c.8356A>G (p.Met2786Val)
c.8338A>G (p.Met2780Val)
c.8266A>G (p.Met2756Val)
n.10679A>G
n.9668A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039238T>GCA384742600KMT2Dn.49A>C
c.8350A>C (p.Met2784Leu)
c.8359A>C (p.Met2787Leu)
c.2369A>C
c.2023A>C (p.Met675Leu)
c.2459A>C
c.8347A>C (p.Met2783Leu)
n.62A>C
c.8356A>C (p.Met2786Leu)
c.8338A>C (p.Met2780Leu)
c.8266A>C (p.Met2756Leu)
n.10679A>C
n.9668A>C
12g.49039238T=CA2034959050KMT2Dn.49A=
c.8350A= (p.Met2784=)
c.8359A= (p.Met2787=)
c.2369A=
c.2023A= (p.Met675=)
c.2459A=
c.8347A= (p.Met2783=)
n.62A=
c.8356A= (p.Met2786=)
c.8338A= (p.Met2780=)
c.8266A= (p.Met2756=)
n.10679A=
n.9668A=
12g.49039239A>CCA479710533KMT2Dn.48T>G
c.8349T>G (p.Ser2783=)
c.8358T>G (p.Ser2786=)
c.2368T>G
c.2022T>G (p.Ser674=)
c.2458T>G
c.8346T>G (p.Ser2782=)
n.61T>G
c.8355T>G (p.Ser2785=)
c.8337T>G (p.Ser2779=)
c.8265T>G (p.Ser2755=)
n.10678T>G
n.9667T>G
12g.49039239A>GCA479710534KMT2Dn.48T>C
c.8349T>C (p.Ser2783=)
c.8358T>C (p.Ser2786=)
c.2368T>C
c.2022T>C (p.Ser674=)
c.2458T>C
c.8346T>C (p.Ser2782=)
n.61T>C
c.8355T>C (p.Ser2785=)
c.8337T>C (p.Ser2779=)
c.8265T>C (p.Ser2755=)
n.10678T>C
n.9667T>C
12g.49039239A>TCA479710536KMT2Dn.48T>A
c.8349T>A (p.Ser2783=)
c.8358T>A (p.Ser2786=)
c.2368T>A
c.2022T>A (p.Ser674=)
c.2458T>A
c.8346T>A (p.Ser2782=)
n.61T>A
c.8355T>A (p.Ser2785=)
c.8337T>A (p.Ser2779=)
c.8265T>A (p.Ser2755=)
n.10678T>A
n.9667T>A
12g.49039240G>ACA384742604KMT2Dn.47C>T
c.8348C>T (p.Ser2783Phe)
c.8357C>T (p.Ser2786Phe)
c.2367C>T
c.2021C>T (p.Ser674Phe)
c.2457C>T
c.8345C>T (p.Ser2782Phe)
n.60C>T
c.8354C>T (p.Ser2785Phe)
c.8336C>T (p.Ser2779Phe)
c.8264C>T (p.Ser2755Phe)
n.10677C>T
n.9666C>T
 dbSNP
12g.49039240G>CCA384742605KMT2Dn.47C>G
c.8348C>G (p.Ser2783Cys)
c.8357C>G (p.Ser2786Cys)
c.2367C>G
c.2021C>G (p.Ser674Cys)
c.2457C>G
c.8345C>G (p.Ser2782Cys)
n.60C>G
c.8354C>G (p.Ser2785Cys)
c.8336C>G (p.Ser2779Cys)
c.8264C>G (p.Ser2755Cys)
n.10677C>G
n.9666C>G
12g.49039240G=CA2034959054KMT2Dn.47C=
c.8348C= (p.Ser2783=)
c.8357C= (p.Ser2786=)
c.2367C=
c.2021C= (p.Ser674=)
c.2457C=
c.8345C= (p.Ser2782=)
n.60C=
c.8354C= (p.Ser2785=)
c.8336C= (p.Ser2779=)
c.8264C= (p.Ser2755=)
n.10677C=
n.9666C=
12g.49039240G>TCA384742626KMT2Dn.47C>A
c.8348C>A (p.Ser2783Tyr)
c.8357C>A (p.Ser2786Tyr)
c.2367C>A
c.2021C>A (p.Ser674Tyr)
c.2457C>A
c.8345C>A (p.Ser2782Tyr)
n.60C>A
c.8354C>A (p.Ser2785Tyr)
c.8336C>A (p.Ser2779Tyr)
c.8264C>A (p.Ser2755Tyr)
n.10677C>A
n.9666C>A
12g.49039241A>CCA384742629KMT2Dn.46T>G
c.8347T>G (p.Ser2783Ala)
c.8356T>G (p.Ser2786Ala)
c.2366T>G
c.2020T>G (p.Ser674Ala)
c.2456T>G
c.8344T>G (p.Ser2782Ala)
n.59T>G
c.8353T>G (p.Ser2785Ala)
c.8335T>G (p.Ser2779Ala)
c.8263T>G (p.Ser2755Ala)
n.10676T>G
n.9665T>G
12g.49039241A>GCA384742630KMT2Dn.46T>C
c.8347T>C (p.Ser2783Pro)
c.8356T>C (p.Ser2786Pro)
c.2366T>C
c.2020T>C (p.Ser674Pro)
c.2456T>C
c.8344T>C (p.Ser2782Pro)
n.59T>C
c.8353T>C (p.Ser2785Pro)
c.8335T>C (p.Ser2779Pro)
c.8263T>C (p.Ser2755Pro)
n.10676T>C
n.9665T>C
12g.49039241A>TCA384742632KMT2Dn.46T>A
c.8347T>A (p.Ser2783Thr)
c.8356T>A (p.Ser2786Thr)
c.2366T>A
c.2020T>A (p.Ser674Thr)
c.2456T>A
c.8344T>A (p.Ser2782Thr)
n.59T>A
c.8353T>A (p.Ser2785Thr)
c.8335T>A (p.Ser2779Thr)
c.8263T>A (p.Ser2755Thr)
n.10676T>A
n.9665T>A
12g.49039242G>ACA479710542KMT2Dn.45C>T
c.8346C>T (p.Ser2782=)
c.8355C>T (p.Ser2785=)
c.2365C>T
c.2019C>T (p.Ser673=)
c.2455C>T
c.8343C>T (p.Ser2781=)
n.58C>T
c.8352C>T (p.Ser2784=)
c.8334C>T (p.Ser2778=)
c.8262C>T (p.Ser2754=)
n.10675C>T
n.9664C>T
 dbSNP
12g.49039242G>CCA479710540KMT2Dn.45C>G
c.8346C>G (p.Ser2782=)
c.8355C>G (p.Ser2785=)
c.2365C>G
c.2019C>G (p.Ser673=)
c.2455C>G
c.8343C>G (p.Ser2781=)
n.58C>G
c.8352C>G (p.Ser2784=)
c.8334C>G (p.Ser2778=)
c.8262C>G (p.Ser2754=)
n.10675C>G
n.9664C>G
 ClinVar
12g.49039242G=CA2034959056KMT2Dn.45C=
c.8346C= (p.Ser2782=)
c.8355C= (p.Ser2785=)
c.2365C=
c.2019C= (p.Ser673=)
c.2455C=
c.8343C= (p.Ser2781=)
n.58C=
c.8352C= (p.Ser2784=)
c.8334C= (p.Ser2778=)
c.8262C= (p.Ser2754=)
n.10675C=
n.9664C=
12g.49039242G>TCA479710539KMT2Dn.45C>A
c.8346C>A (p.Ser2782=)
c.8355C>A (p.Ser2785=)
c.2365C>A
c.2019C>A (p.Ser673=)
c.2455C>A
c.8343C>A (p.Ser2781=)
n.58C>A
c.8352C>A (p.Ser2784=)
c.8334C>A (p.Ser2778=)
c.8262C>A (p.Ser2754=)
n.10675C>A
n.9664C>A
12g.49039243G>ACA384742635KMT2Dn.44C>T
c.8345C>T (p.Ser2782Phe)
c.8354C>T (p.Ser2785Phe)
c.2364C>T
c.2018C>T (p.Ser673Phe)
c.2454C>T
c.8342C>T (p.Ser2781Phe)
n.57C>T
c.8351C>T (p.Ser2784Phe)
c.8333C>T (p.Ser2778Phe)
c.8261C>T (p.Ser2754Phe)
n.10674C>T
n.9663C>T
 gnomAD v4
12g.49039243G>CCA384742637KMT2Dn.44C>G
c.8345C>G (p.Ser2782Cys)
c.8354C>G (p.Ser2785Cys)
c.2364C>G
c.2018C>G (p.Ser673Cys)
c.2454C>G
c.8342C>G (p.Ser2781Cys)
n.57C>G
c.8351C>G (p.Ser2784Cys)
c.8333C>G (p.Ser2778Cys)
c.8261C>G (p.Ser2754Cys)
n.10674C>G
n.9663C>G
 dbSNP
12g.49039243G>TCA384742638KMT2Dn.44C>A
c.8345C>A (p.Ser2782Tyr)
c.8354C>A (p.Ser2785Tyr)
c.2364C>A
c.2018C>A (p.Ser673Tyr)
c.2454C>A
c.8342C>A (p.Ser2781Tyr)
n.57C>A
c.8351C>A (p.Ser2784Tyr)
c.8333C>A (p.Ser2778Tyr)
c.8261C>A (p.Ser2754Tyr)
n.10674C>A
n.9663C>A
 gnomAD v4
12g.49039244A>CCA384742641KMT2Dn.43T>G
c.8344T>G (p.Ser2782Ala)
c.8353T>G (p.Ser2785Ala)
c.2363T>G
c.2017T>G (p.Ser673Ala)
c.2453T>G
c.8341T>G (p.Ser2781Ala)
n.56T>G
c.8350T>G (p.Ser2784Ala)
c.8332T>G (p.Ser2778Ala)
c.8260T>G (p.Ser2754Ala)
n.10673T>G
n.9662T>G
12g.49039244A>GCA384742642KMT2Dn.43T>C
c.8344T>C (p.Ser2782Pro)
c.8353T>C (p.Ser2785Pro)
c.2363T>C
c.2017T>C (p.Ser673Pro)
c.2453T>C
c.8341T>C (p.Ser2781Pro)
n.56T>C
c.8350T>C (p.Ser2784Pro)
c.8332T>C (p.Ser2778Pro)
c.8260T>C (p.Ser2754Pro)
n.10673T>C
n.9662T>C
12g.49039244A>TCA384742644KMT2Dn.43T>A
c.8344T>A (p.Ser2782Thr)
c.8353T>A (p.Ser2785Thr)
c.2363T>A
c.2017T>A (p.Ser673Thr)
c.2453T>A
c.8341T>A (p.Ser2781Thr)
n.56T>A
c.8350T>A (p.Ser2784Thr)
c.8332T>A (p.Ser2778Thr)
c.8260T>A (p.Ser2754Thr)
n.10673T>A
n.9662T>A
12g.49039245A>CCA479710548KMT2Dn.42T>G
c.8343T>G (p.Pro2781=)
c.8352T>G (p.Pro2784=)
c.2362T>G
c.2016T>G (p.Pro672=)
c.2452T>G
c.8340T>G (p.Pro2780=)
n.55T>G
c.8349T>G (p.Pro2783=)
c.8331T>G (p.Pro2777=)
c.8259T>G (p.Pro2753=)
n.10672T>G
n.9661T>G
12g.49039245A>GCA479710547KMT2Dn.42T>C
c.8343T>C (p.Pro2781=)
c.8352T>C (p.Pro2784=)
c.2362T>C
c.2016T>C (p.Pro672=)
c.2452T>C
c.8340T>C (p.Pro2780=)
n.55T>C
c.8349T>C (p.Pro2783=)
c.8331T>C (p.Pro2777=)
c.8259T>C (p.Pro2753=)
n.10672T>C
n.9661T>C
12g.49039245A>TCA479710545KMT2Dn.42T>A
c.8343T>A (p.Pro2781=)
c.8352T>A (p.Pro2784=)
c.2362T>A
c.2016T>A (p.Pro672=)
c.2452T>A
c.8340T>A (p.Pro2780=)
n.55T>A
c.8349T>A (p.Pro2783=)
c.8331T>A (p.Pro2777=)
c.8259T>A (p.Pro2753=)
n.10672T>A
n.9661T>A
12g.49039246G>ACA6546855KMT2Dn.41C>T
c.8342C>T (p.Pro2781Leu)
c.8351C>T (p.Pro2784Leu)
c.2361C>T
c.2015C>T (p.Pro672Leu)
c.2451C>T
c.8339C>T (p.Pro2780Leu)
n.54C>T
c.8348C>T (p.Pro2783Leu)
c.8330C>T (p.Pro2777Leu)
c.8258C>T (p.Pro2753Leu)
n.10671C>T
n.9660C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039246G>CCA384742650KMT2Dn.41C>G
c.8342C>G (p.Pro2781Arg)
c.8351C>G (p.Pro2784Arg)
c.2361C>G
c.2015C>G (p.Pro672Arg)
c.2451C>G
c.8339C>G (p.Pro2780Arg)
n.54C>G
c.8348C>G (p.Pro2783Arg)
c.8330C>G (p.Pro2777Arg)
c.8258C>G (p.Pro2753Arg)
n.10671C>G
n.9660C>G
 dbSNP gnomAD v2 gnomAD v4
12g.49039246G=CA2034959058KMT2Dn.41C=
c.8342C= (p.Pro2781=)
c.8351C= (p.Pro2784=)
c.2361C=
c.2015C= (p.Pro672=)
c.2451C=
c.8339C= (p.Pro2780=)
n.54C=
c.8348C= (p.Pro2783=)
c.8330C= (p.Pro2777=)
c.8258C= (p.Pro2753=)
n.10671C=
n.9660C=
12g.49039246G>TCA384742647KMT2Dn.41C>A
c.8342C>A (p.Pro2781His)
c.8351C>A (p.Pro2784His)
c.2361C>A
c.2015C>A (p.Pro672His)
c.2451C>A
c.8339C>A (p.Pro2780His)
n.54C>A
c.8348C>A (p.Pro2783His)
c.8330C>A (p.Pro2777His)
c.8258C>A (p.Pro2753His)
n.10671C>A
n.9660C>A
12g.49039247G>ACA384742651KMT2Dn.40C>T
c.8341C>T (p.Pro2781Ser)
c.8350C>T (p.Pro2784Ser)
c.2360C>T
c.2014C>T (p.Pro672Ser)
c.2450C>T
c.8338C>T (p.Pro2780Ser)
n.53C>T
c.8347C>T (p.Pro2783Ser)
c.8329C>T (p.Pro2777Ser)
c.8257C>T (p.Pro2753Ser)
n.10670C>T
n.9659C>T
 COSMIC COSMIC
12g.49039247G>CCA384742652KMT2Dn.40C>G
c.8341C>G (p.Pro2781Ala)
c.8350C>G (p.Pro2784Ala)
c.2360C>G
c.2014C>G (p.Pro672Ala)
c.2450C>G
c.8338C>G (p.Pro2780Ala)
n.53C>G
c.8347C>G (p.Pro2783Ala)
c.8329C>G (p.Pro2777Ala)
c.8257C>G (p.Pro2753Ala)
n.10670C>G
n.9659C>G
 dbSNP gnomAD v2 gnomAD v4
12g.49039247G=CA2034959061KMT2Dn.40C=
c.8341C= (p.Pro2781=)
c.8350C= (p.Pro2784=)
c.2360C=
c.2014C= (p.Pro672=)
c.2450C=
c.8338C= (p.Pro2780=)
n.53C=
c.8347C= (p.Pro2783=)
c.8329C= (p.Pro2777=)
c.8257C= (p.Pro2753=)
n.10670C=
n.9659C=
12g.49039247G>TCA384742653KMT2Dn.40C>A
c.8341C>A (p.Pro2781Thr)
c.8350C>A (p.Pro2784Thr)
c.2360C>A
c.2014C>A (p.Pro672Thr)
c.2450C>A
c.8338C>A (p.Pro2780Thr)
n.53C>A
c.8347C>A (p.Pro2783Thr)
c.8329C>A (p.Pro2777Thr)
c.8257C>A (p.Pro2753Thr)
n.10670C>A
n.9659C>A
12g.49039248_49039255delCA2596224992KMT2Dn.33_40del
c.8334_8341del (p.Ala2779PhefsTer?)
c.8343_8350del (p.Ala2782PhefsTer?)
c.2353_2360del
c.2007_2014del (p.Ala670PhefsTer?)
c.2443_2450del
c.8331_8338del (p.Ala2778PhefsTer?)
n.46_53del
c.8340_8347del (p.Ala2781PhefsTer?)
c.8322_8329del (p.Ala2775PhefsTer?)
c.8250_8257del (p.Ala2751PhefsTer?)
n.10663_10670del
n.9652_9659del
 gnomAD v3 gnomAD v4
12g.49039248C>ACA6546856KMT2Dn.39G>T
c.8340G>T (p.Thr2780=)
c.8349G>T (p.Thr2783=)
c.2359G>T
c.2013G>T (p.Thr671=)
c.2449G>T
c.8337G>T (p.Thr2779=)
n.52G>T
c.8346G>T (p.Thr2782=)
c.8328G>T (p.Thr2776=)
c.8256G>T (p.Thr2752=)
n.10669G>T
n.9658G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039248C=CA2034959064KMT2Dn.39G=
c.8340G= (p.Thr2780=)
c.8349G= (p.Thr2783=)
c.2359G=
c.2013G= (p.Thr671=)
c.2449G=
c.8337G= (p.Thr2779=)
n.52G=
c.8346G= (p.Thr2782=)
c.8328G= (p.Thr2776=)
c.8256G= (p.Thr2752=)
n.10669G=
n.9658G=
12g.49039248C>GCA479710550KMT2Dn.39G>C
c.8340G>C (p.Thr2780=)
c.8349G>C (p.Thr2783=)
c.2359G>C
c.2013G>C (p.Thr671=)
c.2449G>C
c.8337G>C (p.Thr2779=)
n.52G>C
c.8346G>C (p.Thr2782=)
c.8328G>C (p.Thr2776=)
c.8256G>C (p.Thr2752=)
n.10669G>C
n.9658G>C
12g.49039248C>TCA6546857KMT2Dn.39G>A
c.8340G>A (p.Thr2780=)
c.8349G>A (p.Thr2783=)
c.2359G>A
c.2013G>A (p.Thr671=)
c.2449G>A
c.8337G>A (p.Thr2779=)
n.52G>A
c.8346G>A (p.Thr2782=)
c.8328G>A (p.Thr2776=)
c.8256G>A (p.Thr2752=)
n.10669G>A
n.9658G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039249G>ACA6546858KMT2Dn.38C>T
c.8339C>T (p.Thr2780Met)
c.8348C>T (p.Thr2783Met)
c.2358C>T
c.2012C>T (p.Thr671Met)
c.2448C>T
c.8336C>T (p.Thr2779Met)
n.51C>T
c.8345C>T (p.Thr2782Met)
c.8327C>T (p.Thr2776Met)
c.8255C>T (p.Thr2752Met)
n.10668C>T
n.9657C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039249G>CCA384742659KMT2Dn.38C>G
c.8339C>G (p.Thr2780Arg)
c.8348C>G (p.Thr2783Arg)
c.2358C>G
c.2012C>G (p.Thr671Arg)
c.2448C>G
c.8336C>G (p.Thr2779Arg)
n.51C>G
c.8345C>G (p.Thr2782Arg)
c.8327C>G (p.Thr2776Arg)
c.8255C>G (p.Thr2752Arg)
n.10668C>G
n.9657C>G
12g.49039249G=CA2034959068KMT2Dn.38C=
c.8339C= (p.Thr2780=)
c.8348C= (p.Thr2783=)
c.2358C=
c.2012C= (p.Thr671=)
c.2448C=
c.8336C= (p.Thr2779=)
n.51C=
c.8345C= (p.Thr2782=)
c.8327C= (p.Thr2776=)
c.8255C= (p.Thr2752=)
n.10668C=
n.9657C=
12g.49039249G>TCA384742658KMT2Dn.38C>A
c.8339C>A (p.Thr2780Lys)
c.8348C>A (p.Thr2783Lys)
c.2358C>A
c.2012C>A (p.Thr671Lys)
c.2448C>A
c.8336C>A (p.Thr2779Lys)
n.51C>A
c.8345C>A (p.Thr2782Lys)
c.8327C>A (p.Thr2776Lys)
c.8255C>A (p.Thr2752Lys)
n.10668C>A
n.9657C>A
12g.49039250T>ACA384742660KMT2Dn.37A>T
c.8338A>T (p.Thr2780Ser)
c.8347A>T (p.Thr2783Ser)
c.2357A>T
c.2011A>T (p.Thr671Ser)
c.2447A>T
c.8335A>T (p.Thr2779Ser)
n.50A>T
c.8344A>T (p.Thr2782Ser)
c.8326A>T (p.Thr2776Ser)
c.8254A>T (p.Thr2752Ser)
n.10667A>T
n.9656A>T
 dbSNP
12g.49039250T>CCA384742662KMT2Dn.37A>G
c.8338A>G (p.Thr2780Ala)
c.8347A>G (p.Thr2783Ala)
c.2357A>G
c.2011A>G (p.Thr671Ala)
c.2447A>G
c.8335A>G (p.Thr2779Ala)
n.50A>G
c.8344A>G (p.Thr2782Ala)
c.8326A>G (p.Thr2776Ala)
c.8254A>G (p.Thr2752Ala)
n.10667A>G
n.9656A>G
 dbSNP gnomAD v2 gnomAD v4
12g.49039250T>GCA384742663KMT2Dn.37A>C
c.8338A>C (p.Thr2780Pro)
c.8347A>C (p.Thr2783Pro)
c.2357A>C
c.2011A>C (p.Thr671Pro)
c.2447A>C
c.8335A>C (p.Thr2779Pro)
n.50A>C
c.8344A>C (p.Thr2782Pro)
c.8326A>C (p.Thr2776Pro)
c.8254A>C (p.Thr2752Pro)
n.10667A>C
n.9656A>C
 dbSNP
12g.49039250T=CA2034959071KMT2Dn.37A=
c.8338A= (p.Thr2780=)
c.8347A= (p.Thr2783=)
c.2357A=
c.2011A= (p.Thr671=)
c.2447A=
c.8335A= (p.Thr2779=)
n.50A=
c.8344A= (p.Thr2782=)
c.8326A= (p.Thr2776=)
c.8254A= (p.Thr2752=)
n.10667A=
n.9656A=
12g.49039251G>ACA479710553KMT2Dn.36C>T
c.8337C>T (p.Ala2779=)
c.8346C>T (p.Ala2782=)
c.2356C>T
c.2010C>T (p.Ala670=)
c.2446C>T
c.8334C>T (p.Ala2778=)
n.49C>T
c.8343C>T (p.Ala2781=)
c.8325C>T (p.Ala2775=)
c.8253C>T (p.Ala2751=)
n.10666C>T
n.9655C>T
12g.49039251G>CCA479710554KMT2Dn.36C>G
c.8337C>G (p.Ala2779=)
c.8346C>G (p.Ala2782=)
c.2356C>G
c.2010C>G (p.Ala670=)
c.2446C>G
c.8334C>G (p.Ala2778=)
n.49C>G
c.8343C>G (p.Ala2781=)
c.8325C>G (p.Ala2775=)
c.8253C>G (p.Ala2751=)
n.10666C>G
n.9655C>G
12g.49039251G>TCA479710556KMT2Dn.36C>A
c.8337C>A (p.Ala2779=)
c.8346C>A (p.Ala2782=)
c.2356C>A
c.2010C>A (p.Ala670=)
c.2446C>A
c.8334C>A (p.Ala2778=)
n.49C>A
c.8343C>A (p.Ala2781=)
c.8325C>A (p.Ala2775=)
c.8253C>A (p.Ala2751=)
n.10666C>A
n.9655C>A
12g.49039252G>ACA384742665KMT2Dn.35C>T
c.8336C>T (p.Ala2779Val)
c.8345C>T (p.Ala2782Val)
c.2355C>T
c.2009C>T (p.Ala670Val)
c.2445C>T
c.8333C>T (p.Ala2778Val)
n.48C>T
c.8342C>T (p.Ala2781Val)
c.8324C>T (p.Ala2775Val)
c.8252C>T (p.Ala2751Val)
n.10665C>T
n.9654C>T
 dbSNP gnomAD v4
12g.49039252G>CCA384742667KMT2Dn.35C>G
c.8336C>G (p.Ala2779Gly)
c.8345C>G (p.Ala2782Gly)
c.2355C>G
c.2009C>G (p.Ala670Gly)
c.2445C>G
c.8333C>G (p.Ala2778Gly)
n.48C>G
c.8342C>G (p.Ala2781Gly)
c.8324C>G (p.Ala2775Gly)
c.8252C>G (p.Ala2751Gly)
n.10665C>G
n.9654C>G
12g.49039252G>TCA384742668KMT2Dn.35C>A
c.8336C>A (p.Ala2779Asp)
c.8345C>A (p.Ala2782Asp)
c.2355C>A
c.2009C>A (p.Ala670Asp)
c.2445C>A
c.8333C>A (p.Ala2778Asp)
n.48C>A
c.8342C>A (p.Ala2781Asp)
c.8324C>A (p.Ala2775Asp)
c.8252C>A (p.Ala2751Asp)
n.10665C>A
n.9654C>A
12g.49039253C>ACA384742673KMT2Dn.34G>T
c.8335G>T (p.Ala2779Ser)
c.8344G>T (p.Ala2782Ser)
c.2354G>T
c.2008G>T (p.Ala670Ser)
c.2444G>T
c.8332G>T (p.Ala2778Ser)
n.47G>T
c.8341G>T (p.Ala2781Ser)
c.8323G>T (p.Ala2775Ser)
c.8251G>T (p.Ala2751Ser)
n.10664G>T
n.9653G>T
12g.49039253C=CA2034959075KMT2Dn.34G=
c.8335G= (p.Ala2779=)
c.8344G= (p.Ala2782=)
c.2354G=
c.2008G= (p.Ala670=)
c.2444G=
c.8332G= (p.Ala2778=)
n.47G=
c.8341G= (p.Ala2781=)
c.8323G= (p.Ala2775=)
c.8251G= (p.Ala2751=)
n.10664G=
n.9653G=
12g.49039253C>GCA384742671KMT2Dn.34G>C
c.8335G>C (p.Ala2779Pro)
c.8344G>C (p.Ala2782Pro)
c.2354G>C
c.2008G>C (p.Ala670Pro)
c.2444G>C
c.8332G>C (p.Ala2778Pro)
n.47G>C
c.8341G>C (p.Ala2781Pro)
c.8323G>C (p.Ala2775Pro)
c.8251G>C (p.Ala2751Pro)
n.10664G>C
n.9653G>C
 dbSNP
12g.49039253C>TCA236646025KMT2Dn.34G>A
c.8335G>A (p.Ala2779Thr)
c.8344G>A (p.Ala2782Thr)
c.2354G>A
c.2008G>A (p.Ala670Thr)
c.2444G>A
c.8332G>A (p.Ala2778Thr)
n.47G>A
c.8341G>A (p.Ala2781Thr)
c.8323G>A (p.Ala2775Thr)
c.8251G>A (p.Ala2751Thr)
n.10664G>A
n.9653G>A
 dbSNP gnomAD v4
12g.49039254T>ACA479710560KMT2Dn.33A>T
c.8334A>T (p.Pro2778=)
c.8343A>T (p.Pro2781=)
c.2353A>T
c.2007A>T (p.Pro669=)
c.2443A>T
c.8331A>T (p.Pro2777=)
n.46A>T
c.8340A>T (p.Pro2780=)
c.8322A>T (p.Pro2774=)
c.8250A>T (p.Pro2750=)
n.10663A>T
n.9652A>T
 dbSNP
12g.49039254T>CCA6546859KMT2Dn.33A>G
c.8334A>G (p.Pro2778=)
c.8343A>G (p.Pro2781=)
c.2353A>G
c.2007A>G (p.Pro669=)
c.2443A>G
c.8331A>G (p.Pro2777=)
n.46A>G
c.8340A>G (p.Pro2780=)
c.8322A>G (p.Pro2774=)
c.8250A>G (p.Pro2750=)
n.10663A>G
n.9652A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039254T>GCA479710561KMT2Dn.33A>C
c.8334A>C (p.Pro2778=)
c.8343A>C (p.Pro2781=)
c.2353A>C
c.2007A>C (p.Pro669=)
c.2443A>C
c.8331A>C (p.Pro2777=)
n.46A>C
c.8340A>C (p.Pro2780=)
c.8322A>C (p.Pro2774=)
c.8250A>C (p.Pro2750=)
n.10663A>C
n.9652A>C
12g.49039254T=CA2034959077KMT2Dn.33A=
c.8334A= (p.Pro2778=)
c.8343A= (p.Pro2781=)
c.2353A=
c.2007A= (p.Pro669=)
c.2443A=
c.8331A= (p.Pro2777=)
n.46A=
c.8340A= (p.Pro2780=)
c.8322A= (p.Pro2774=)
c.8250A= (p.Pro2750=)
n.10663A=
n.9652A=
12g.49039255G>ACA236646052KMT2Dn.32C>T
c.8333C>T (p.Pro2778Leu)
c.8342C>T (p.Pro2781Leu)
c.2352C>T
c.2006C>T (p.Pro669Leu)
c.2442C>T
c.8330C>T (p.Pro2777Leu)
n.45C>T
c.8339C>T (p.Pro2780Leu)
c.8321C>T (p.Pro2774Leu)
c.8249C>T (p.Pro2750Leu)
n.10662C>T
n.9651C>T
 dbSNP gnomAD v2 gnomAD v4
12g.49039255G>CCA384742675KMT2Dn.32C>G
c.8333C>G (p.Pro2778Arg)
c.8342C>G (p.Pro2781Arg)
c.2352C>G
c.2006C>G (p.Pro669Arg)
c.2442C>G
c.8330C>G (p.Pro2777Arg)
n.45C>G
c.8339C>G (p.Pro2780Arg)
c.8321C>G (p.Pro2774Arg)
c.8249C>G (p.Pro2750Arg)
n.10662C>G
n.9651C>G
12g.49039255G=CA2034959080KMT2Dn.32C=
c.8333C= (p.Pro2778=)
c.8342C= (p.Pro2781=)
c.2352C=
c.2006C= (p.Pro669=)
c.2442C=
c.8330C= (p.Pro2777=)
n.45C=
c.8339C= (p.Pro2780=)
c.8321C= (p.Pro2774=)
c.8249C= (p.Pro2750=)
n.10662C=
n.9651C=
12g.49039255G>TCA384742677KMT2Dn.32C>A
c.8333C>A (p.Pro2778Gln)
c.8342C>A (p.Pro2781Gln)
c.2352C>A
c.2006C>A (p.Pro669Gln)
c.2442C>A
c.8330C>A (p.Pro2777Gln)
n.45C>A
c.8339C>A (p.Pro2780Gln)
c.8321C>A (p.Pro2774Gln)
c.8249C>A (p.Pro2750Gln)
n.10662C>A
n.9651C>A
12g.49039256G>ACA384742678KMT2Dn.31C>T
c.8332C>T (p.Pro2778Ser)
c.8341C>T (p.Pro2781Ser)
c.2351C>T
c.2005C>T (p.Pro669Ser)
c.2441C>T
c.8329C>T (p.Pro2777Ser)
n.44C>T
c.8338C>T (p.Pro2780Ser)
c.8320C>T (p.Pro2774Ser)
c.8248C>T (p.Pro2750Ser)
n.10661C>T
n.9650C>T
 dbSNP gnomAD v4
12g.49039256G>CCA384742682KMT2Dn.31C>G
c.8332C>G (p.Pro2778Ala)
c.8341C>G (p.Pro2781Ala)
c.2351C>G
c.2005C>G (p.Pro669Ala)
c.2441C>G
c.8329C>G (p.Pro2777Ala)
n.44C>G
c.8338C>G (p.Pro2780Ala)
c.8320C>G (p.Pro2774Ala)
c.8248C>G (p.Pro2750Ala)
n.10661C>G
n.9650C>G
12g.49039256G=CA2034959084KMT2Dn.31C=
c.8332C= (p.Pro2778=)
c.8341C= (p.Pro2781=)
c.2351C=
c.2005C= (p.Pro669=)
c.2441C=
c.8329C= (p.Pro2777=)
n.44C=
c.8338C= (p.Pro2780=)
c.8320C= (p.Pro2774=)
c.8248C= (p.Pro2750=)
n.10661C=
n.9650C=
12g.49039256G>TCA384742679KMT2Dn.31C>A
c.8332C>A (p.Pro2778Thr)
c.8341C>A (p.Pro2781Thr)
c.2351C>A
c.2005C>A (p.Pro669Thr)
c.2441C>A
c.8329C>A (p.Pro2777Thr)
n.44C>A
c.8338C>A (p.Pro2780Thr)
c.8320C>A (p.Pro2774Thr)
c.8248C>A (p.Pro2750Thr)
n.10661C>A
n.9650C>A
12g.49039257T>ACA479710565KMT2Dn.30A>T
c.8331A>T (p.Pro2777=)
c.8340A>T (p.Pro2780=)
c.2350A>T
c.2004A>T (p.Pro668=)
c.2440A>T
c.8328A>T (p.Pro2776=)
n.43A>T
c.8337A>T (p.Pro2779=)
c.8319A>T (p.Pro2773=)
c.8247A>T (p.Pro2749=)
n.10660A>T
n.9649A>T
12g.49039257T>CCA6546861KMT2Dn.30A>G
c.8331A>G (p.Pro2777=)
c.8340A>G (p.Pro2780=)
c.2350A>G
c.2004A>G (p.Pro668=)
c.2440A>G
c.8328A>G (p.Pro2776=)
n.43A>G
c.8337A>G (p.Pro2779=)
c.8319A>G (p.Pro2773=)
c.8247A>G (p.Pro2749=)
n.10660A>G
n.9649A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039257T>GCA6546860KMT2Dn.30A>C
c.8331A>C (p.Pro2777=)
c.8340A>C (p.Pro2780=)
c.2350A>C
c.2004A>C (p.Pro668=)
c.2440A>C
c.8328A>C (p.Pro2776=)
n.43A>C
c.8337A>C (p.Pro2779=)
c.8319A>C (p.Pro2773=)
c.8247A>C (p.Pro2749=)
n.10660A>C
n.9649A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039257T=CA2034959088KMT2Dn.30A=
c.8331A= (p.Pro2777=)
c.8340A= (p.Pro2780=)
c.2350A=
c.2004A= (p.Pro668=)
c.2440A=
c.8328A= (p.Pro2776=)
n.43A=
c.8337A= (p.Pro2779=)
c.8319A= (p.Pro2773=)
c.8247A= (p.Pro2749=)
n.10660A=
n.9649A=
12g.49039258G>ACA6546862KMT2Dn.29C>T
c.8330C>T (p.Pro2777Leu)
c.8339C>T (p.Pro2780Leu)
c.2349C>T
c.2003C>T (p.Pro668Leu)
c.2439C>T
c.8327C>T (p.Pro2776Leu)
n.42C>T
c.8336C>T (p.Pro2779Leu)
c.8318C>T (p.Pro2773Leu)
c.8246C>T (p.Pro2749Leu)
n.10659C>T
n.9648C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039258G>CCA384742688KMT2Dn.29C>G
c.8330C>G (p.Pro2777Arg)
c.8339C>G (p.Pro2780Arg)
c.2349C>G
c.2003C>G (p.Pro668Arg)
c.2439C>G
c.8327C>G (p.Pro2776Arg)
n.42C>G
c.8336C>G (p.Pro2779Arg)
c.8318C>G (p.Pro2773Arg)
c.8246C>G (p.Pro2749Arg)
n.10659C>G
n.9648C>G
12g.49039258G=CA2034959093KMT2Dn.29C=
c.8330C= (p.Pro2777=)
c.8339C= (p.Pro2780=)
c.2349C=
c.2003C= (p.Pro668=)
c.2439C=
c.8327C= (p.Pro2776=)
n.42C=
c.8336C= (p.Pro2779=)
c.8318C= (p.Pro2773=)
c.8246C= (p.Pro2749=)
n.10659C=
n.9648C=
12g.49039258G>TCA384742691KMT2Dn.29C>A
c.8330C>A (p.Pro2777Gln)
c.8339C>A (p.Pro2780Gln)
c.2349C>A
c.2003C>A (p.Pro668Gln)
c.2439C>A
c.8327C>A (p.Pro2776Gln)
n.42C>A
c.8336C>A (p.Pro2779Gln)
c.8318C>A (p.Pro2773Gln)
c.8246C>A (p.Pro2749Gln)
n.10659C>A
n.9648C>A
12g.49039259G>ACA384742694KMT2Dn.28C>T
c.8329C>T (p.Pro2777Ser)
c.8338C>T (p.Pro2780Ser)
c.2348C>T
c.2002C>T (p.Pro668Ser)
c.2438C>T
c.8326C>T (p.Pro2776Ser)
n.41C>T
c.8335C>T (p.Pro2779Ser)
c.8317C>T (p.Pro2773Ser)
c.8245C>T (p.Pro2749Ser)
n.10658C>T
n.9647C>T
12g.49039259G>CCA236646057KMT2Dn.28C>G
c.8329C>G (p.Pro2777Ala)
c.8338C>G (p.Pro2780Ala)
c.2348C>G
c.2002C>G (p.Pro668Ala)
c.2438C>G
c.8326C>G (p.Pro2776Ala)
n.41C>G
c.8335C>G (p.Pro2779Ala)
c.8317C>G (p.Pro2773Ala)
c.8245C>G (p.Pro2749Ala)
n.10658C>G
n.9647C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49039259G=CA2034959094KMT2Dn.28C=
c.8329C= (p.Pro2777=)
c.8338C= (p.Pro2780=)
c.2348C=
c.2002C= (p.Pro668=)
c.2438C=
c.8326C= (p.Pro2776=)
n.41C=
c.8335C= (p.Pro2779=)
c.8317C= (p.Pro2773=)
c.8245C= (p.Pro2749=)
n.10658C=
n.9647C=
12g.49039259G>TCA384742699KMT2Dn.28C>A
c.8329C>A (p.Pro2777Thr)
c.8338C>A (p.Pro2780Thr)
c.2348C>A
c.2002C>A (p.Pro668Thr)
c.2438C>A
c.8326C>A (p.Pro2776Thr)
n.41C>A
c.8335C>A (p.Pro2779Thr)
c.8317C>A (p.Pro2773Thr)
c.8245C>A (p.Pro2749Thr)
n.10658C>A
n.9647C>A
12g.49039260A=CA2034959096KMT2Dn.27T=
c.8328T= (p.Pro2776=)
c.8337T= (p.Pro2779=)
c.2347T=
c.2001T= (p.Pro667=)
c.2437T=
c.8325T= (p.Pro2775=)
n.40T=
c.8334T= (p.Pro2778=)
c.8316T= (p.Pro2772=)
c.8244T= (p.Pro2748=)
n.10657T=
n.9646T=
12g.49039260A>CCA479710570KMT2Dn.27T>G
c.8328T>G (p.Pro2776=)
c.8337T>G (p.Pro2779=)
c.2347T>G
c.2001T>G (p.Pro667=)
c.2437T>G
c.8325T>G (p.Pro2775=)
n.40T>G
c.8334T>G (p.Pro2778=)
c.8316T>G (p.Pro2772=)
c.8244T>G (p.Pro2748=)
n.10657T>G
n.9646T>G
12g.49039260A>GCA6546863KMT2Dn.27T>C
c.8328T>C (p.Pro2776=)
c.8337T>C (p.Pro2779=)
c.2347T>C
c.2001T>C (p.Pro667=)
c.2437T>C
c.8325T>C (p.Pro2775=)
n.40T>C
c.8334T>C (p.Pro2778=)
c.8316T>C (p.Pro2772=)
c.8244T>C (p.Pro2748=)
n.10657T>C
n.9646T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039260A>TCA479710572KMT2Dn.27T>A
c.8328T>A (p.Pro2776=)
c.8337T>A (p.Pro2779=)
c.2347T>A
c.2001T>A (p.Pro667=)
c.2437T>A
c.8325T>A (p.Pro2775=)
n.40T>A
c.8334T>A (p.Pro2778=)
c.8316T>A (p.Pro2772=)
c.8244T>A (p.Pro2748=)
n.10657T>A
n.9646T>A
12g.49039261G>ACA384742703KMT2Dn.26C>T
c.8327C>T (p.Pro2776Leu)
c.8336C>T (p.Pro2779Leu)
c.2346C>T
c.2000C>T (p.Pro667Leu)
c.2436C>T
c.8324C>T (p.Pro2775Leu)
n.39C>T
c.8333C>T (p.Pro2778Leu)
c.8315C>T (p.Pro2772Leu)
c.8243C>T (p.Pro2748Leu)
n.10656C>T
n.9645C>T
 dbSNP
12g.49039261G>CCA384742706KMT2Dn.26C>G
c.8327C>G (p.Pro2776Arg)
c.8336C>G (p.Pro2779Arg)
c.2346C>G
c.2000C>G (p.Pro667Arg)
c.2436C>G
c.8324C>G (p.Pro2775Arg)
n.39C>G
c.8333C>G (p.Pro2778Arg)
c.8315C>G (p.Pro2772Arg)
c.8243C>G (p.Pro2748Arg)
n.10656C>G
n.9645C>G
12g.49039261G>TCA384742709KMT2Dn.26C>A
c.8327C>A (p.Pro2776His)
c.8336C>A (p.Pro2779His)
c.2346C>A
c.2000C>A (p.Pro667His)
c.2436C>A
c.8324C>A (p.Pro2775His)
n.39C>A
c.8333C>A (p.Pro2778His)
c.8315C>A (p.Pro2772His)
c.8243C>A (p.Pro2748His)
n.10656C>A
n.9645C>A
12g.49039262G>ACA384742712KMT2Dn.25C>T
c.8326C>T (p.Pro2776Ser)
c.8335C>T (p.Pro2779Ser)
c.2345C>T
c.1999C>T (p.Pro667Ser)
c.2435C>T
c.8323C>T (p.Pro2775Ser)
n.38C>T
c.8332C>T (p.Pro2778Ser)
c.8314C>T (p.Pro2772Ser)
c.8242C>T (p.Pro2748Ser)
n.10655C>T
n.9644C>T
 dbSNP
12g.49039262G>CCA384742716KMT2Dn.25C>G
c.8326C>G (p.Pro2776Ala)
c.8335C>G (p.Pro2779Ala)
c.2345C>G
c.1999C>G (p.Pro667Ala)
c.2435C>G
c.8323C>G (p.Pro2775Ala)
n.38C>G
c.8332C>G (p.Pro2778Ala)
c.8314C>G (p.Pro2772Ala)
c.8242C>G (p.Pro2748Ala)
n.10655C>G
n.9644C>G
12g.49039262G=CA2034959099KMT2Dn.25C=
c.8326C= (p.Pro2776=)
c.8335C= (p.Pro2779=)
c.2345C=
c.1999C= (p.Pro667=)
c.2435C=
c.8323C= (p.Pro2775=)
n.38C=
c.8332C= (p.Pro2778=)
c.8314C= (p.Pro2772=)
c.8242C= (p.Pro2748=)
n.10655C=
n.9644C=
12g.49039262G>TCA384742714KMT2Dn.25C>A
c.8326C>A (p.Pro2776Thr)
c.8335C>A (p.Pro2779Thr)
c.2345C>A
c.1999C>A (p.Pro667Thr)
c.2435C>A
c.8323C>A (p.Pro2775Thr)
n.38C>A
c.8332C>A (p.Pro2778Thr)
c.8314C>A (p.Pro2772Thr)
c.8242C>A (p.Pro2748Thr)
n.10655C>A
n.9644C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49039263T>ACA479710576KMT2Dn.24A>T
c.8325A>T (p.Pro2775=)
c.8334A>T (p.Pro2778=)
c.2344A>T
c.1998A>T (p.Pro666=)
c.2434A>T
c.8322A>T (p.Pro2774=)
n.37A>T
c.8331A>T (p.Pro2777=)
c.8313A>T (p.Pro2771=)
c.8241A>T (p.Pro2747=)
n.10654A>T
n.9643A>T
 dbSNP
12g.49039263T>CCA479710577KMT2Dn.24A>G
c.8325A>G (p.Pro2775=)
c.8334A>G (p.Pro2778=)
c.2344A>G
c.1998A>G (p.Pro666=)
c.2434A>G
c.8322A>G (p.Pro2774=)
n.37A>G
c.8331A>G (p.Pro2777=)
c.8313A>G (p.Pro2771=)
c.8241A>G (p.Pro2747=)
n.10654A>G
n.9643A>G
 dbSNP
12g.49039263T>GCA6546864KMT2Dn.24A>C
c.8325A>C (p.Pro2775=)
c.8334A>C (p.Pro2778=)
c.2344A>C
c.1998A>C (p.Pro666=)
c.2434A>C
c.8322A>C (p.Pro2774=)
n.37A>C
c.8331A>C (p.Pro2777=)
c.8313A>C (p.Pro2771=)
c.8241A>C (p.Pro2747=)
n.10654A>C
n.9643A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039263T=CA2034959103KMT2Dn.24A=
c.8325A= (p.Pro2775=)
c.8334A= (p.Pro2778=)
c.2344A=
c.1998A= (p.Pro666=)
c.2434A=
c.8322A= (p.Pro2774=)
n.37A=
c.8331A= (p.Pro2777=)
c.8313A= (p.Pro2771=)
c.8241A= (p.Pro2747=)
n.10654A=
n.9643A=
12g.49039263_49039291delCA645579660KMT2Dc.8297_8325del (p.Phe2766SerfsTer?)
c.8306_8334del (p.Phe2769SerfsTer?)
c.2316_2344del
c.1970_1998del (p.Phe657SerfsTer?)
c.2406_2434del
c.8294_8322del (p.Phe2765SerfsTer?)
n.9_37del
c.8303_8331del (p.Phe2768SerfsTer?)
c.8285_8313del (p.Phe2762SerfsTer?)
c.8213_8241del (p.Phe2738SerfsTer?)
n.10626_10654del
n.9615_9643del
 COSMIC COSMIC
12g.49039264G>ACA384742721KMT2Dn.23C>T
c.8324C>T (p.Pro2775Leu)
c.8333C>T (p.Pro2778Leu)
c.2343C>T
c.1997C>T (p.Pro666Leu)
c.2433C>T
c.8321C>T (p.Pro2774Leu)
n.36C>T
c.8330C>T (p.Pro2777Leu)
c.8312C>T (p.Pro2771Leu)
c.8240C>T (p.Pro2747Leu)
n.10653C>T
n.9642C>T
12g.49039264G>CCA384742722KMT2Dn.23C>G
c.8324C>G (p.Pro2775Arg)
c.8333C>G (p.Pro2778Arg)
c.2343C>G
c.1997C>G (p.Pro666Arg)
c.2433C>G
c.8321C>G (p.Pro2774Arg)
n.36C>G
c.8330C>G (p.Pro2777Arg)
c.8312C>G (p.Pro2771Arg)
c.8240C>G (p.Pro2747Arg)
n.10653C>G
n.9642C>G
12g.49039264G>TCA384742725KMT2Dn.23C>A
c.8324C>A (p.Pro2775Gln)
c.8333C>A (p.Pro2778Gln)
c.2343C>A
c.1997C>A (p.Pro666Gln)
c.2433C>A
c.8321C>A (p.Pro2774Gln)
n.36C>A
c.8330C>A (p.Pro2777Gln)
c.8312C>A (p.Pro2771Gln)
c.8240C>A (p.Pro2747Gln)
n.10653C>A
n.9642C>A
12g.49039265G>ACA384742727KMT2Dn.22C>T
c.8323C>T (p.Pro2775Ser)
c.8332C>T (p.Pro2778Ser)
c.2342C>T
c.1996C>T (p.Pro666Ser)
c.2432C>T
c.8320C>T (p.Pro2774Ser)
n.35C>T
c.8329C>T (p.Pro2777Ser)
c.8311C>T (p.Pro2771Ser)
c.8239C>T (p.Pro2747Ser)
n.10652C>T
n.9641C>T
 dbSNP gnomAD v2 gnomAD v4
12g.49039265G>CCA384742729KMT2Dn.22C>G
c.8323C>G (p.Pro2775Ala)
c.8332C>G (p.Pro2778Ala)
c.2342C>G
c.1996C>G (p.Pro666Ala)
c.2432C>G
c.8320C>G (p.Pro2774Ala)
n.35C>G
c.8329C>G (p.Pro2777Ala)
c.8311C>G (p.Pro2771Ala)
c.8239C>G (p.Pro2747Ala)
n.10652C>G
n.9641C>G
12g.49039265G=CA2034959104KMT2Dn.22C=
c.8323C= (p.Pro2775=)
c.8332C= (p.Pro2778=)
c.2342C=
c.1996C= (p.Pro666=)
c.2432C=
c.8320C= (p.Pro2774=)
n.35C=
c.8329C= (p.Pro2777=)
c.8311C= (p.Pro2771=)
c.8239C= (p.Pro2747=)
n.10652C=
n.9641C=
12g.49039265G>TCA384742730KMT2Dn.22C>A
c.8323C>A (p.Pro2775Thr)
c.8332C>A (p.Pro2778Thr)
c.2342C>A
c.1996C>A (p.Pro666Thr)
c.2432C>A
c.8320C>A (p.Pro2774Thr)
n.35C>A
c.8329C>A (p.Pro2777Thr)
c.8311C>A (p.Pro2771Thr)
c.8239C>A (p.Pro2747Thr)
n.10652C>A
n.9641C>A
12g.49039266C>ACA479710583KMT2Dn.21G>T
c.8322G>T (p.Arg2774=)
c.8331G>T (p.Arg2777=)
c.2341G>T
c.1995G>T (p.Arg665=)
c.2431G>T
c.8319G>T (p.Arg2773=)
n.34G>T
c.8328G>T (p.Arg2776=)
c.8310G>T (p.Arg2770=)
c.8238G>T (p.Arg2746=)
n.10651G>T
n.9640G>T
12g.49039266C>GCA479710581KMT2Dn.21G>C
c.8322G>C (p.Arg2774=)
c.8331G>C (p.Arg2777=)
c.2341G>C
c.1995G>C (p.Arg665=)
c.2431G>C
c.8319G>C (p.Arg2773=)
n.34G>C
c.8328G>C (p.Arg2776=)
c.8310G>C (p.Arg2770=)
c.8238G>C (p.Arg2746=)
n.10651G>C
n.9640G>C
 dbSNP
12g.49039266C>TCA479710582KMT2Dn.21G>A
c.8322G>A (p.Arg2774=)
c.8331G>A (p.Arg2777=)
c.2341G>A
c.1995G>A (p.Arg665=)
c.2431G>A
c.8319G>A (p.Arg2773=)
n.34G>A
c.8328G>A (p.Arg2776=)
c.8310G>A (p.Arg2770=)
c.8238G>A (p.Arg2746=)
n.10651G>A
n.9640G>A
 dbSNP
12g.49039267C>ACA6546866KMT2Dn.20G>T
c.8321G>T (p.Arg2774Leu)
c.8330G>T (p.Arg2777Leu)
c.2340G>T
c.1994G>T (p.Arg665Leu)
c.2430G>T
c.8318G>T (p.Arg2773Leu)
n.33G>T
c.8327G>T (p.Arg2776Leu)
c.8309G>T (p.Arg2770Leu)
c.8237G>T (p.Arg2746Leu)
n.10650G>T
n.9639G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039267C=CA2034959109KMT2Dn.20G=
c.8321G= (p.Arg2774=)
c.8330G= (p.Arg2777=)
c.2340G=
c.1994G= (p.Arg665=)
c.2430G=
c.8318G= (p.Arg2773=)
n.33G=
c.8327G= (p.Arg2776=)
c.8309G= (p.Arg2770=)
c.8237G= (p.Arg2746=)
n.10650G=
n.9639G=
12g.49039267C>GCA236646070KMT2Dn.20G>C
c.8321G>C (p.Arg2774Pro)
c.8330G>C (p.Arg2777Pro)
c.2340G>C
c.1994G>C (p.Arg665Pro)
c.2430G>C
c.8318G>C (p.Arg2773Pro)
n.33G>C
c.8327G>C (p.Arg2776Pro)
c.8309G>C (p.Arg2770Pro)
c.8237G>C (p.Arg2746Pro)
n.10650G>C
n.9639G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49039267C>TCA6546865KMT2Dn.20G>A
c.8321G>A (p.Arg2774Gln)
c.8330G>A (p.Arg2777Gln)
c.2340G>A
c.1994G>A (p.Arg665Gln)
c.2430G>A
c.8318G>A (p.Arg2773Gln)
n.33G>A
c.8327G>A (p.Arg2776Gln)
c.8309G>A (p.Arg2770Gln)
c.8237G>A (p.Arg2746Gln)
n.10650G>A
n.9639G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039268G>ACA6546867KMT2Dn.19C>T
c.8320C>T (p.Arg2774Trp)
c.8329C>T (p.Arg2777Trp)
c.2339C>T
c.1993C>T (p.Arg665Trp)
c.2429C>T
c.8317C>T (p.Arg2773Trp)
n.32C>T
c.8326C>T (p.Arg2776Trp)
c.8308C>T (p.Arg2770Trp)
c.8236C>T (p.Arg2746Trp)
n.10649C>T
n.9638C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039268G>CCA384742738KMT2Dn.19C>G
c.8320C>G (p.Arg2774Gly)
c.8329C>G (p.Arg2777Gly)
c.2339C>G
c.1993C>G (p.Arg665Gly)
c.2429C>G
c.8317C>G (p.Arg2773Gly)
n.32C>G
c.8326C>G (p.Arg2776Gly)
c.8308C>G (p.Arg2770Gly)
c.8236C>G (p.Arg2746Gly)
n.10649C>G
n.9638C>G
12g.49039268G=CA2034959113KMT2Dn.19C=
c.8320C= (p.Arg2774=)
c.8329C= (p.Arg2777=)
c.2339C=
c.1993C= (p.Arg665=)
c.2429C=
c.8317C= (p.Arg2773=)
n.32C=
c.8326C= (p.Arg2776=)
c.8308C= (p.Arg2770=)
c.8236C= (p.Arg2746=)
n.10649C=
n.9638C=
12g.49039268G>TCA479710585KMT2Dn.19C>A
c.8320C>A (p.Arg2774=)
c.8329C>A (p.Arg2777=)
c.2339C>A
c.1993C>A (p.Arg665=)
c.2429C>A
c.8317C>A (p.Arg2773=)
n.32C>A
c.8326C>A (p.Arg2776=)
c.8308C>A (p.Arg2770=)
c.8236C>A (p.Arg2746=)
n.10649C>A
n.9638C>A
 COSMIC COSMIC
12g.49039269G>ACA479710587KMT2Dn.18C>T
c.8319C>T (p.Ser2773=)
c.8328C>T (p.Ser2776=)
c.2338C>T
c.1992C>T (p.Ser664=)
c.2428C>T
c.8316C>T (p.Ser2772=)
n.31C>T
c.8325C>T (p.Ser2775=)
c.8307C>T (p.Ser2769=)
c.8235C>T (p.Ser2745=)
n.10648C>T
n.9637C>T
 dbSNP gnomAD v2 gnomAD v4
12g.49039269G>CCA479710590KMT2Dn.18C>G
c.8319C>G (p.Ser2773=)
c.8328C>G (p.Ser2776=)
c.2338C>G
c.1992C>G (p.Ser664=)
c.2428C>G
c.8316C>G (p.Ser2772=)
n.31C>G
c.8325C>G (p.Ser2775=)
c.8307C>G (p.Ser2769=)
c.8235C>G (p.Ser2745=)
n.10648C>G
n.9637C>G
12g.49039269G=CA2034959116KMT2Dn.18C=
c.8319C= (p.Ser2773=)
c.8328C= (p.Ser2776=)
c.2338C=
c.1992C= (p.Ser664=)
c.2428C=
c.8316C= (p.Ser2772=)
n.31C=
c.8325C= (p.Ser2775=)
c.8307C= (p.Ser2769=)
c.8235C= (p.Ser2745=)
n.10648C=
n.9637C=
12g.49039269G>TCA479710589KMT2Dn.18C>A
c.8319C>A (p.Ser2773=)
c.8328C>A (p.Ser2776=)
c.2338C>A
c.1992C>A (p.Ser664=)
c.2428C>A
c.8316C>A (p.Ser2772=)
n.31C>A
c.8325C>A (p.Ser2775=)
c.8307C>A (p.Ser2769=)
c.8235C>A (p.Ser2745=)
n.10648C>A
n.9637C>A
12g.49039269_49039270insAGAGTCGCA645579661KMT2Dn.18_19insGACTCTC
c.8319_8320insGACTCTC (p.Arg2774AspfsTer?)
c.8328_8329insGACTCTC (p.Arg2777AspfsTer?)
c.2338_2339insGACTCTC
c.1992_1993insGACTCTC (p.Arg665AspfsTer?)
c.2428_2429insGACTCTC
c.8316_8317insGACTCTC (p.Arg2773AspfsTer?)
n.31_32insGACTCTC
c.8325_8326insGACTCTC (p.Arg2776AspfsTer?)
c.8307_8308insGACTCTC (p.Arg2770AspfsTer?)
c.8235_8236insGACTCTC (p.Arg2746AspfsTer?)
n.10648_10649insGACTCTC
n.9637_9638insGACTCTC
 COSMIC COSMIC
12g.49039270G>ACA384742739KMT2Dn.17C>T
c.8318C>T (p.Ser2773Phe)
c.8327C>T (p.Ser2776Phe)
c.2337C>T
c.1991C>T (p.Ser664Phe)
c.2427C>T
c.8315C>T (p.Ser2772Phe)
n.30C>T
c.8324C>T (p.Ser2775Phe)
c.8306C>T (p.Ser2769Phe)
c.8234C>T (p.Ser2745Phe)
n.10647C>T
n.9636C>T
12g.49039270G>CCA384742741KMT2Dn.17C>G
c.8318C>G (p.Ser2773Cys)
c.8327C>G (p.Ser2776Cys)
c.2337C>G
c.1991C>G (p.Ser664Cys)
c.2427C>G
c.8315C>G (p.Ser2772Cys)
n.30C>G
c.8324C>G (p.Ser2775Cys)
c.8306C>G (p.Ser2769Cys)
c.8234C>G (p.Ser2745Cys)
n.10647C>G
n.9636C>G
12g.49039270G>TCA384742742KMT2Dn.17C>A
c.8318C>A (p.Ser2773Tyr)
c.8327C>A (p.Ser2776Tyr)
c.2337C>A
c.1991C>A (p.Ser664Tyr)
c.2427C>A
c.8315C>A (p.Ser2772Tyr)
n.30C>A
c.8324C>A (p.Ser2775Tyr)
c.8306C>A (p.Ser2769Tyr)
c.8234C>A (p.Ser2745Tyr)
n.10647C>A
n.9636C>A
12g.49039271A=CA2034959120KMT2Dn.16T=
c.8317T= (p.Ser2773=)
c.8326T= (p.Ser2776=)
c.2336T=
c.1990T= (p.Ser664=)
c.2426T=
c.8314T= (p.Ser2772=)
n.29T=
c.8323T= (p.Ser2775=)
c.8305T= (p.Ser2769=)
c.8233T= (p.Ser2745=)
n.10646T=
n.9635T=
12g.49039271A>CCA384742744KMT2Dn.16T>G
c.8317T>G (p.Ser2773Ala)
c.8326T>G (p.Ser2776Ala)
c.2336T>G
c.1990T>G (p.Ser664Ala)
c.2426T>G
c.8314T>G (p.Ser2772Ala)
n.29T>G
c.8323T>G (p.Ser2775Ala)
c.8305T>G (p.Ser2769Ala)
c.8233T>G (p.Ser2745Ala)
n.10646T>G
n.9635T>G
12g.49039271A>GCA236646085KMT2Dn.16T>C
c.8317T>C (p.Ser2773Pro)
c.8326T>C (p.Ser2776Pro)
c.2336T>C
c.1990T>C (p.Ser664Pro)
c.2426T>C
c.8314T>C (p.Ser2772Pro)
n.29T>C
c.8323T>C (p.Ser2775Pro)
c.8305T>C (p.Ser2769Pro)
c.8233T>C (p.Ser2745Pro)
n.10646T>C
n.9635T>C
 ClinVar dbSNP
12g.49039271A>TCA384742749KMT2Dn.16T>A
c.8317T>A (p.Ser2773Thr)
c.8326T>A (p.Ser2776Thr)
c.2336T>A
c.1990T>A (p.Ser664Thr)
c.2426T>A
c.8314T>A (p.Ser2772Thr)
n.29T>A
c.8323T>A (p.Ser2775Thr)
c.8305T>A (p.Ser2769Thr)
c.8233T>A (p.Ser2745Thr)
n.10646T>A
n.9635T>A
12g.49039272G>ACA479710592KMT2Dn.15C>T
c.8316C>T (p.Leu2772=)
c.8325C>T (p.Leu2775=)
c.2335C>T
c.1989C>T (p.Leu663=)
c.2425C>T
c.8313C>T (p.Leu2771=)
n.28C>T
c.8322C>T (p.Leu2774=)
c.8304C>T (p.Leu2768=)
c.8232C>T (p.Leu2744=)
n.10645C>T
n.9634C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49039272G>CCA479710594KMT2Dn.15C>G
c.8316C>G (p.Leu2772=)
c.8325C>G (p.Leu2775=)
c.2335C>G
c.1989C>G (p.Leu663=)
c.2425C>G
c.8313C>G (p.Leu2771=)
n.28C>G
c.8322C>G (p.Leu2774=)
c.8304C>G (p.Leu2768=)
c.8232C>G (p.Leu2744=)
n.10645C>G
n.9634C>G
 dbSNP
12g.49039272G=CA2034959122KMT2Dn.15C=
c.8316C= (p.Leu2772=)
c.8325C= (p.Leu2775=)
c.2335C=
c.1989C= (p.Leu663=)
c.2425C=
c.8313C= (p.Leu2771=)
n.28C=
c.8322C= (p.Leu2774=)
c.8304C= (p.Leu2768=)
c.8232C= (p.Leu2744=)
n.10645C=
n.9634C=
12g.49039272G>TCA479710595KMT2Dn.15C>A
c.8316C>A (p.Leu2772=)
c.8325C>A (p.Leu2775=)
c.2335C>A
c.1989C>A (p.Leu663=)
c.2425C>A
c.8313C>A (p.Leu2771=)
n.28C>A
c.8322C>A (p.Leu2774=)
c.8304C>A (p.Leu2768=)
c.8232C>A (p.Leu2744=)
n.10645C>A
n.9634C>A
12g.49039273A>CCA384742752KMT2Dn.14T>G
c.8315T>G (p.Leu2772Arg)
c.8324T>G (p.Leu2775Arg)
c.2334T>G
c.1988T>G (p.Leu663Arg)
c.2424T>G
c.8312T>G (p.Leu2771Arg)
n.27T>G
c.8321T>G (p.Leu2774Arg)
c.8303T>G (p.Leu2768Arg)
c.8231T>G (p.Leu2744Arg)
n.10644T>G
n.9633T>G
12g.49039273A>GCA384742754KMT2Dn.14T>C
c.8315T>C (p.Leu2772Pro)
c.8324T>C (p.Leu2775Pro)
c.2334T>C
c.1988T>C (p.Leu663Pro)
c.2424T>C
c.8312T>C (p.Leu2771Pro)
n.27T>C
c.8321T>C (p.Leu2774Pro)
c.8303T>C (p.Leu2768Pro)
c.8231T>C (p.Leu2744Pro)
n.10644T>C
n.9633T>C
12g.49039273A>TCA384742758KMT2Dn.14T>A
c.8315T>A (p.Leu2772His)
c.8324T>A (p.Leu2775His)
c.2334T>A
c.1988T>A (p.Leu663His)
c.2424T>A
c.8312T>A (p.Leu2771His)
n.27T>A
c.8321T>A (p.Leu2774His)
c.8303T>A (p.Leu2768His)
c.8231T>A (p.Leu2744His)
n.10644T>A
n.9633T>A
12g.49039274G>ACA236646101KMT2Dn.13C>T
c.8314C>T (p.Leu2772Phe)
c.8323C>T (p.Leu2775Phe)
c.2333C>T
c.1987C>T (p.Leu663Phe)
c.2423C>T
c.8311C>T (p.Leu2771Phe)
n.26C>T
c.8320C>T (p.Leu2774Phe)
c.8302C>T (p.Leu2768Phe)
c.8230C>T (p.Leu2744Phe)
n.10643C>T
n.9632C>T
 ClinVar dbSNP gnomAD v4
12g.49039274G>CCA384742763KMT2Dn.13C>G
c.8314C>G (p.Leu2772Val)
c.8323C>G (p.Leu2775Val)
c.2333C>G
c.1987C>G (p.Leu663Val)
c.2423C>G
c.8311C>G (p.Leu2771Val)
n.26C>G
c.8320C>G (p.Leu2774Val)
c.8302C>G (p.Leu2768Val)
c.8230C>G (p.Leu2744Val)
n.10643C>G
n.9632C>G
 dbSNP
12g.49039274G=CA2034959126KMT2Dn.13C=
c.8314C= (p.Leu2772=)
c.8323C= (p.Leu2775=)
c.2333C=
c.1987C= (p.Leu663=)
c.2423C=
c.8311C= (p.Leu2771=)
n.26C=
c.8320C= (p.Leu2774=)
c.8302C= (p.Leu2768=)
c.8230C= (p.Leu2744=)
n.10643C=
n.9632C=
12g.49039274G>TCA384742766KMT2Dn.13C>A
c.8314C>A (p.Leu2772Ile)
c.8323C>A (p.Leu2775Ile)
c.2333C>A
c.1987C>A (p.Leu663Ile)
c.2423C>A
c.8311C>A (p.Leu2771Ile)
n.26C>A
c.8320C>A (p.Leu2774Ile)
c.8302C>A (p.Leu2768Ile)
c.8230C>A (p.Leu2744Ile)
n.10643C>A
n.9632C>A
12g.49039275T>ACA479710600KMT2Dn.12A>T
c.8313A>T (p.Arg2771=)
c.8322A>T (p.Arg2774=)
c.2332A>T
c.1986A>T (p.Arg662=)
c.2422A>T
c.8310A>T (p.Arg2770=)
n.25A>T
c.8319A>T (p.Arg2773=)
c.8301A>T (p.Arg2767=)
c.8229A>T (p.Arg2743=)
n.10642A>T
n.9631A>T
12g.49039275T>CCA479710601KMT2Dn.12A>G
c.8313A>G (p.Arg2771=)
c.8322A>G (p.Arg2774=)
c.2332A>G
c.1986A>G (p.Arg662=)
c.2422A>G
c.8310A>G (p.Arg2770=)
n.25A>G
c.8319A>G (p.Arg2773=)
c.8301A>G (p.Arg2767=)
c.8229A>G (p.Arg2743=)
n.10642A>G
n.9631A>G
12g.49039275T>GCA479710603KMT2Dn.12A>C
c.8313A>C (p.Arg2771=)
c.8322A>C (p.Arg2774=)
c.2332A>C
c.1986A>C (p.Arg662=)
c.2422A>C
c.8310A>C (p.Arg2770=)
n.25A>C
c.8319A>C (p.Arg2773=)
c.8301A>C (p.Arg2767=)
c.8229A>C (p.Arg2743=)
n.10642A>C
n.9631A>C
12g.49039276C>ACA384742771KMT2Dn.11G>T
c.8312G>T (p.Arg2771Leu)
c.8321G>T (p.Arg2774Leu)
c.2331G>T
c.1985G>T (p.Arg662Leu)
c.2421G>T
c.8309G>T (p.Arg2770Leu)
n.24G>T
c.8318G>T (p.Arg2773Leu)
c.8300G>T (p.Arg2767Leu)
c.8228G>T (p.Arg2743Leu)
n.10641G>T
n.9630G>T
12g.49039276C=CA2034959129KMT2Dn.11G=
c.8312G= (p.Arg2771=)
c.8321G= (p.Arg2774=)
c.2331G=
c.1985G= (p.Arg662=)
c.2421G=
c.8309G= (p.Arg2770=)
n.24G=
c.8318G= (p.Arg2773=)
c.8300G= (p.Arg2767=)
c.8228G= (p.Arg2743=)
n.10641G=
n.9630G=
12g.49039276C>GCA384742773KMT2Dn.11G>C
c.8312G>C (p.Arg2771Pro)
c.8321G>C (p.Arg2774Pro)
c.2331G>C
c.1985G>C (p.Arg662Pro)
c.2421G>C
c.8309G>C (p.Arg2770Pro)
n.24G>C
c.8318G>C (p.Arg2773Pro)
c.8300G>C (p.Arg2767Pro)
c.8228G>C (p.Arg2743Pro)
n.10641G>C
n.9630G>C
 dbSNP gnomAD v3 gnomAD v4
12g.49039276C>TCA384742768KMT2Dn.11G>A
c.8312G>A (p.Arg2771Gln)
c.8321G>A (p.Arg2774Gln)
c.2331G>A
c.1985G>A (p.Arg662Gln)
c.2421G>A
c.8309G>A (p.Arg2770Gln)
n.24G>A
c.8318G>A (p.Arg2773Gln)
c.8300G>A (p.Arg2767Gln)
c.8228G>A (p.Arg2743Gln)
n.10641G>A
n.9630G>A
 ClinVar dbSNP gnomAD v4
12g.49039277G>ACA384742778KMT2Dn.10C>T
c.8311C>T (p.Arg2771Ter)
c.8320C>T (p.Arg2774Ter)
c.2330C>T
c.1984C>T (p.Arg662Ter)
c.2420C>T
c.8308C>T (p.Arg2770Ter)
n.23C>T
c.8317C>T (p.Arg2773Ter)
c.8299C>T (p.Arg2767Ter)
c.8227C>T (p.Arg2743Ter)
n.10640C>T
n.9629C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.49039277G>CCA384742779KMT2Dn.10C>G
c.8311C>G (p.Arg2771Gly)
c.8320C>G (p.Arg2774Gly)
c.2330C>G
c.1984C>G (p.Arg662Gly)
c.2420C>G
c.8308C>G (p.Arg2770Gly)
n.23C>G
c.8317C>G (p.Arg2773Gly)
c.8299C>G (p.Arg2767Gly)
c.8227C>G (p.Arg2743Gly)
n.10640C>G
n.9629C>G
12g.49039277G=CA2034959133KMT2Dn.10C=
c.8311C= (p.Arg2771=)
c.8320C= (p.Arg2774=)
c.2330C=
c.1984C= (p.Arg662=)
c.2420C=
c.8308C= (p.Arg2770=)
n.23C=
c.8317C= (p.Arg2773=)
c.8299C= (p.Arg2767=)
c.8227C= (p.Arg2743=)
n.10640C=
n.9629C=
12g.49039277G>TCA479710604KMT2Dn.10C>A
c.8311C>A (p.Arg2771=)
c.8320C>A (p.Arg2774=)
c.2330C>A
c.1984C>A (p.Arg662=)
c.2420C>A
c.8308C>A (p.Arg2770=)
n.23C>A
c.8317C>A (p.Arg2773=)
c.8299C>A (p.Arg2767=)
c.8227C>A (p.Arg2743=)
n.10640C>A
n.9629C>A
12g.49039278delCA2697559197KMT2Dn.10del
c.8311del (p.Arg2771AspfsTer16)
c.8320del (p.Arg2774AspfsTer16)
c.2330del
c.1984del (p.Arg662AspfsTer16)
c.2420del
c.8308del (p.Arg2770AspfsTer16)
n.23del
c.8317del (p.Arg2773AspfsTer16)
c.8299del (p.Arg2767AspfsTer16)
c.8227del (p.Arg2743AspfsTer16)
n.10640del
n.9629del
 ClinVar
12g.49039278G>ACA6546868KMT2Dn.9C>T
c.8310C>T (p.Asp2770=)
c.8319C>T (p.Asp2773=)
c.2329C>T
c.1983C>T (p.Asp661=)
c.2419C>T
c.8307C>T (p.Asp2769=)
n.22C>T
c.8316C>T (p.Asp2772=)
c.8298C>T (p.Asp2766=)
c.8226C>T (p.Asp2742=)
n.10639C>T
n.9628C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039278G>CCA384742784KMT2Dn.9C>G
c.8310C>G (p.Asp2770Glu)
c.8319C>G (p.Asp2773Glu)
c.2329C>G
c.1983C>G (p.Asp661Glu)
c.2419C>G
c.8307C>G (p.Asp2769Glu)
n.22C>G
c.8316C>G (p.Asp2772Glu)
c.8298C>G (p.Asp2766Glu)
c.8226C>G (p.Asp2742Glu)
n.10639C>G
n.9628C>G
 gnomAD v4
12g.49039278G=CA2034959140KMT2Dn.9C=
c.8310C= (p.Asp2770=)
c.8319C= (p.Asp2773=)
c.2329C=
c.1983C= (p.Asp661=)
c.2419C=
c.8307C= (p.Asp2769=)
n.22C=
c.8316C= (p.Asp2772=)
c.8298C= (p.Asp2766=)
c.8226C= (p.Asp2742=)
n.10639C=
n.9628C=
12g.49039278G>TCA384742786KMT2Dn.9C>A
c.8310C>A (p.Asp2770Glu)
c.8319C>A (p.Asp2773Glu)
c.2329C>A
c.1983C>A (p.Asp661Glu)
c.2419C>A
c.8307C>A (p.Asp2769Glu)
n.22C>A
c.8316C>A (p.Asp2772Glu)
c.8298C>A (p.Asp2766Glu)
c.8226C>A (p.Asp2742Glu)
n.10639C>A
n.9628C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49039279T>ACA384742793KMT2Dn.8A>T
c.8309A>T (p.Asp2770Val)
c.8318A>T (p.Asp2773Val)
c.2328A>T
c.1982A>T (p.Asp661Val)
c.2418A>T
c.8306A>T (p.Asp2769Val)
n.21A>T
c.8315A>T (p.Asp2772Val)
c.8297A>T (p.Asp2766Val)
c.8225A>T (p.Asp2742Val)
n.10638A>T
n.9627A>T
 dbSNP
12g.49039279T>CCA236646106KMT2Dn.8A>G
c.8309A>G (p.Asp2770Gly)
c.8318A>G (p.Asp2773Gly)
c.2328A>G
c.1982A>G (p.Asp661Gly)
c.2418A>G
c.8306A>G (p.Asp2769Gly)
n.21A>G
c.8315A>G (p.Asp2772Gly)
c.8297A>G (p.Asp2766Gly)
c.8225A>G (p.Asp2742Gly)
n.10638A>G
n.9627A>G
 dbSNP gnomAD v3 gnomAD v4
12g.49039279T>GCA384742791KMT2Dn.8A>C
c.8309A>C (p.Asp2770Ala)
c.8318A>C (p.Asp2773Ala)
c.2328A>C
c.1982A>C (p.Asp661Ala)
c.2418A>C
c.8306A>C (p.Asp2769Ala)
n.21A>C
c.8315A>C (p.Asp2772Ala)
c.8297A>C (p.Asp2766Ala)
c.8225A>C (p.Asp2742Ala)
n.10638A>C
n.9627A>C
 dbSNP
12g.49039279T=CA2034959145KMT2Dn.8A=
c.8309A= (p.Asp2770=)
c.8318A= (p.Asp2773=)
c.2328A=
c.1982A= (p.Asp661=)
c.2418A=
c.8306A= (p.Asp2769=)
n.21A=
c.8315A= (p.Asp2772=)
c.8297A= (p.Asp2766=)
c.8225A= (p.Asp2742=)
n.10638A=
n.9627A=
12g.49039280C>ACA384742796KMT2Dn.7G>T
c.8308G>T (p.Asp2770Tyr)
c.8317G>T (p.Asp2773Tyr)
c.2327G>T
c.1981G>T (p.Asp661Tyr)
c.2417G>T
c.8305G>T (p.Asp2769Tyr)
n.20G>T
c.8314G>T (p.Asp2772Tyr)
c.8296G>T (p.Asp2766Tyr)
c.8224G>T (p.Asp2742Tyr)
n.10637G>T
n.9626G>T
 gnomAD v4
12g.49039280C>GCA384742798KMT2Dn.7G>C
c.8308G>C (p.Asp2770His)
c.8317G>C (p.Asp2773His)
c.2327G>C
c.1981G>C (p.Asp661His)
c.2417G>C
c.8305G>C (p.Asp2769His)
n.20G>C
c.8314G>C (p.Asp2772His)
c.8296G>C (p.Asp2766His)
c.8224G>C (p.Asp2742His)
n.10637G>C
n.9626G>C
12g.49039280C>TCA384742800KMT2Dn.7G>A
c.8308G>A (p.Asp2770Asn)
c.8317G>A (p.Asp2773Asn)
c.2327G>A
c.1981G>A (p.Asp661Asn)
c.2417G>A
c.8305G>A (p.Asp2769Asn)
n.20G>A
c.8314G>A (p.Asp2772Asn)
c.8296G>A (p.Asp2766Asn)
c.8224G>A (p.Asp2742Asn)
n.10637G>A
n.9626G>A
12g.49039280_49039281delCA2695216407KMT2Dn.6_7del
c.8307_8308del (p.Asp2769GlufsTer?)
c.8316_8317del (p.Asp2772GlufsTer?)
c.2326_2327del
c.1980_1981del (p.Asp660GlufsTer?)
c.2416_2417del
c.8304_8305del (p.Asp2768GlufsTer?)
n.19_20del
c.8313_8314del (p.Asp2771GlufsTer?)
c.8295_8296del (p.Asp2765GlufsTer?)
c.8223_8224del (p.Asp2741GlufsTer?)
n.10636_10637del
n.9625_9626del
12g.49039281A>CCA384742803KMT2Dn.6T>G
c.8307T>G (p.Asp2769Glu)
c.8316T>G (p.Asp2772Glu)
c.2326T>G
c.1980T>G (p.Asp660Glu)
c.2416T>G
c.8304T>G (p.Asp2768Glu)
n.19T>G
c.8313T>G (p.Asp2771Glu)
c.8295T>G (p.Asp2765Glu)
c.8223T>G (p.Asp2741Glu)
n.10636T>G
n.9625T>G
12g.49039281A>GCA479710611KMT2Dn.6T>C
c.8307T>C (p.Asp2769=)
c.8316T>C (p.Asp2772=)
c.2326T>C
c.1980T>C (p.Asp660=)
c.2416T>C
c.8304T>C (p.Asp2768=)
n.19T>C
c.8313T>C (p.Asp2771=)
c.8295T>C (p.Asp2765=)
c.8223T>C (p.Asp2741=)
n.10636T>C
n.9625T>C
12g.49039281A>TCA384742805KMT2Dn.6T>A
c.8307T>A (p.Asp2769Glu)
c.8316T>A (p.Asp2772Glu)
c.2326T>A
c.1980T>A (p.Asp660Glu)
c.2416T>A
c.8304T>A (p.Asp2768Glu)
n.19T>A
c.8313T>A (p.Asp2771Glu)
c.8295T>A (p.Asp2765Glu)
c.8223T>A (p.Asp2741Glu)
n.10636T>A
n.9625T>A
12g.49039282T>ACA384742812KMT2Dn.5A>T
c.8306A>T (p.Asp2769Val)
c.8315A>T (p.Asp2772Val)
c.2325A>T
c.1979A>T (p.Asp660Val)
c.2415A>T
c.8303A>T (p.Asp2768Val)
n.18A>T
c.8312A>T (p.Asp2771Val)
c.8294A>T (p.Asp2765Val)
c.8222A>T (p.Asp2741Val)
n.10635A>T
n.9624A>T
12g.49039282T>CCA384742810KMT2Dn.5A>G
c.8306A>G (p.Asp2769Gly)
c.8315A>G (p.Asp2772Gly)
c.2325A>G
c.1979A>G (p.Asp660Gly)
c.2415A>G
c.8303A>G (p.Asp2768Gly)
n.18A>G
c.8312A>G (p.Asp2771Gly)
c.8294A>G (p.Asp2765Gly)
c.8222A>G (p.Asp2741Gly)
n.10635A>G
n.9624A>G
12g.49039282T>GCA384742809KMT2Dn.5A>C
c.8306A>C (p.Asp2769Ala)
c.8315A>C (p.Asp2772Ala)
c.2325A>C
c.1979A>C (p.Asp660Ala)
c.2415A>C
c.8303A>C (p.Asp2768Ala)
n.18A>C
c.8312A>C (p.Asp2771Ala)
c.8294A>C (p.Asp2765Ala)
c.8222A>C (p.Asp2741Ala)
n.10635A>C
n.9624A>C
12g.49039283C>ACA384742816KMT2Dn.4G>T
c.8305G>T (p.Asp2769Tyr)
c.8314G>T (p.Asp2772Tyr)
c.2324G>T
c.1978G>T (p.Asp660Tyr)
c.2414G>T
c.8302G>T (p.Asp2768Tyr)
n.17G>T
c.8311G>T (p.Asp2771Tyr)
c.8293G>T (p.Asp2765Tyr)
c.8221G>T (p.Asp2741Tyr)
n.10634G>T
n.9623G>T
 dbSNP
12g.49039283C=CA2034959149KMT2Dn.4G=
c.8305G= (p.Asp2769=)
c.8314G= (p.Asp2772=)
c.2324G=
c.1978G= (p.Asp660=)
c.2414G=
c.8302G= (p.Asp2768=)
n.17G=
c.8311G= (p.Asp2771=)
c.8293G= (p.Asp2765=)
c.8221G= (p.Asp2741=)
n.10634G=
n.9623G=
12g.49039283C>GCA384742819KMT2Dn.4G>C
c.8305G>C (p.Asp2769His)
c.8314G>C (p.Asp2772His)
c.2324G>C
c.1978G>C (p.Asp660His)
c.2414G>C
c.8302G>C (p.Asp2768His)
n.17G>C
c.8311G>C (p.Asp2771His)
c.8293G>C (p.Asp2765His)
c.8221G>C (p.Asp2741His)
n.10634G>C
n.9623G>C
12g.49039283C>TCA6546869KMT2Dn.4G>A
c.8305G>A (p.Asp2769Asn)
c.8314G>A (p.Asp2772Asn)
c.2324G>A
c.1978G>A (p.Asp660Asn)
c.2414G>A
c.8302G>A (p.Asp2768Asn)
n.17G>A
c.8311G>A (p.Asp2771Asn)
c.8293G>A (p.Asp2765Asn)
c.8221G>A (p.Asp2741Asn)
n.10634G>A
n.9623G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.49039284G>ACA6546870KMT2Dn.3C>T
c.8304C>T (p.Ser2768=)
c.8313C>T (p.Ser2771=)
c.2323C>T
c.1977C>T (p.Ser659=)
c.2413C>T
c.8301C>T (p.Ser2767=)
n.16C>T
c.8310C>T (p.Ser2770=)
c.8292C>T (p.Ser2764=)
c.8220C>T (p.Ser2740=)
n.10633C>T
n.9622C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.49039284G>CCA6546871KMT2Dn.3C>G
c.8304C>G (p.Ser2768Arg)
c.8313C>G (p.Ser2771Arg)
c.2323C>G
c.1977C>G (p.Ser659Arg)
c.2413C>G
c.8301C>G (p.Ser2767Arg)
n.16C>G
c.8310C>G (p.Ser2770Arg)
c.8292C>G (p.Ser2764Arg)
c.8220C>G (p.Ser2740Arg)
n.10633C>G
n.9622C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039284G=CA2034959153KMT2Dn.3C=
c.8304C= (p.Ser2768=)
c.8313C= (p.Ser2771=)
c.2323C=
c.1977C= (p.Ser659=)
c.2413C=
c.8301C= (p.Ser2767=)
n.16C=
c.8310C= (p.Ser2770=)
c.8292C= (p.Ser2764=)
c.8220C= (p.Ser2740=)
n.10633C=
n.9622C=
12g.49039284G>TCA6546872KMT2Dn.3C>A
c.8304C>A (p.Ser2768Arg)
c.8313C>A (p.Ser2771Arg)
c.2323C>A
c.1977C>A (p.Ser659Arg)
c.2413C>A
c.8301C>A (p.Ser2767Arg)
n.16C>A
c.8310C>A (p.Ser2770Arg)
c.8292C>A (p.Ser2764Arg)
c.8220C>A (p.Ser2740Arg)
n.10633C>A
n.9622C>A
 dbSNP ExAC gnomAD v2
12g.49039285C>ACA384742831KMT2Dn.2G>T
c.8303G>T (p.Ser2768Ile)
c.8312G>T (p.Ser2771Ile)
c.2322G>T
c.1976G>T (p.Ser659Ile)
c.2412G>T
c.8300G>T (p.Ser2767Ile)
n.15G>T
c.8309G>T (p.Ser2770Ile)
c.8291G>T (p.Ser2764Ile)
c.8219G>T (p.Ser2740Ile)
n.10632G>T
n.9621G>T
12g.49039285C>GCA384742828KMT2Dn.2G>C
c.8303G>C (p.Ser2768Thr)
c.8312G>C (p.Ser2771Thr)
c.2322G>C
c.1976G>C (p.Ser659Thr)
c.2412G>C
c.8300G>C (p.Ser2767Thr)
n.15G>C
c.8309G>C (p.Ser2770Thr)
c.8291G>C (p.Ser2764Thr)
c.8219G>C (p.Ser2740Thr)
n.10632G>C
n.9621G>C
12g.49039285C>TCA384742827KMT2Dn.2G>A
c.8303G>A (p.Ser2768Asn)
c.8312G>A (p.Ser2771Asn)
c.2322G>A
c.1976G>A (p.Ser659Asn)
c.2412G>A
c.8300G>A (p.Ser2767Asn)
n.15G>A
c.8309G>A (p.Ser2770Asn)
c.8291G>A (p.Ser2764Asn)
c.8219G>A (p.Ser2740Asn)
n.10632G>A
n.9621G>A
12g.49039286T>ACA384742834KMT2Dn.1A>T
c.8302A>T (p.Ser2768Cys)
c.8311A>T (p.Ser2771Cys)
c.2321A>T
c.1975A>T (p.Ser659Cys)
c.2411A>T
c.8299A>T (p.Ser2767Cys)
n.14A>T
c.8308A>T (p.Ser2770Cys)
c.8290A>T (p.Ser2764Cys)
c.8218A>T (p.Ser2740Cys)
n.10631A>T
n.9620A>T
12g.49039286T>CCA384742836KMT2Dn.1A>G
c.8302A>G (p.Ser2768Gly)
c.8311A>G (p.Ser2771Gly)
c.2321A>G
c.1975A>G (p.Ser659Gly)
c.2411A>G
c.8299A>G (p.Ser2767Gly)
n.14A>G
c.8308A>G (p.Ser2770Gly)
c.8290A>G (p.Ser2764Gly)
c.8218A>G (p.Ser2740Gly)
n.10631A>G
n.9620A>G
 ClinVar
12g.49039286T>GCA384742839KMT2Dn.1A>C
c.8302A>C (p.Ser2768Arg)
c.8311A>C (p.Ser2771Arg)
c.2321A>C
c.1975A>C (p.Ser659Arg)
c.2411A>C
c.8299A>C (p.Ser2767Arg)
n.14A>C
c.8308A>C (p.Ser2770Arg)
c.8290A>C (p.Ser2764Arg)
c.8218A>C (p.Ser2740Arg)
n.10631A>C
n.9620A>C
12g.49039287A>CCA479710618KMT2Dc.8301T>G (p.Pro2767=)
c.8310T>G (p.Pro2770=)
c.2320T>G
c.1974T>G (p.Pro658=)
c.2410T>G
c.8298T>G (p.Pro2766=)
n.13T>G
c.8307T>G (p.Pro2769=)
c.8289T>G (p.Pro2763=)
c.8217T>G (p.Pro2739=)
n.10630T>G
n.9619T>G
12g.49039287A>GCA479710619KMT2Dc.8301T>C (p.Pro2767=)
c.8310T>C (p.Pro2770=)
c.2320T>C
c.1974T>C (p.Pro658=)
c.2410T>C
c.8298T>C (p.Pro2766=)
n.13T>C
c.8307T>C (p.Pro2769=)
c.8289T>C (p.Pro2763=)
c.8217T>C (p.Pro2739=)
n.10630T>C
n.9619T>C
12g.49039287A>TCA479710620KMT2Dc.8301T>A (p.Pro2767=)
c.8310T>A (p.Pro2770=)
c.2320T>A
c.1974T>A (p.Pro658=)
c.2410T>A
c.8298T>A (p.Pro2766=)
n.13T>A
c.8307T>A (p.Pro2769=)
c.8289T>A (p.Pro2763=)
c.8217T>A (p.Pro2739=)
n.10630T>A
n.9619T>A
12g.49039288G>ACA384742842KMT2Dc.8300C>T (p.Pro2767Leu)
c.8309C>T (p.Pro2770Leu)
c.2319C>T
c.1973C>T (p.Pro658Leu)
c.2409C>T
c.8297C>T (p.Pro2766Leu)
n.12C>T
c.8306C>T (p.Pro2769Leu)
c.8288C>T (p.Pro2763Leu)
c.8216C>T (p.Pro2739Leu)
n.10629C>T
n.9618C>T
 dbSNP gnomAD v2 gnomAD v4
12g.49039288G>CCA384742843KMT2Dc.8300C>G (p.Pro2767Arg)
c.8309C>G (p.Pro2770Arg)
c.2319C>G
c.1973C>G (p.Pro658Arg)
c.2409C>G
c.8297C>G (p.Pro2766Arg)
n.12C>G
c.8306C>G (p.Pro2769Arg)
c.8288C>G (p.Pro2763Arg)
c.8216C>G (p.Pro2739Arg)
n.10629C>G
n.9618C>G
12g.49039288G=CA2034959159KMT2Dc.8300C= (p.Pro2767=)
c.8309C= (p.Pro2770=)
c.2319C=
c.1973C= (p.Pro658=)
c.2409C=
c.8297C= (p.Pro2766=)
n.12C=
c.8306C= (p.Pro2769=)
c.8288C= (p.Pro2763=)
c.8216C= (p.Pro2739=)
n.10629C=
n.9618C=
12g.49039288G>TCA384742845KMT2Dc.8300C>A (p.Pro2767His)
c.8309C>A (p.Pro2770His)
c.2319C>A
c.1973C>A (p.Pro658His)
c.2409C>A
c.8297C>A (p.Pro2766His)
n.12C>A
c.8306C>A (p.Pro2769His)
c.8288C>A (p.Pro2763His)
c.8216C>A (p.Pro2739His)
n.10629C>A
n.9618C>A
12g.49039289G>ACA384742846KMT2Dc.8299C>T (p.Pro2767Ser)
c.8308C>T (p.Pro2770Ser)
c.2318C>T
c.1972C>T (p.Pro658Ser)
c.2408C>T
c.8296C>T (p.Pro2766Ser)
n.11C>T
c.8305C>T (p.Pro2769Ser)
c.8287C>T (p.Pro2763Ser)
c.8215C>T (p.Pro2739Ser)
n.10628C>T
n.9617C>T
12g.49039289G>CCA384742850KMT2Dc.8299C>G (p.Pro2767Ala)
c.8308C>G (p.Pro2770Ala)
c.2318C>G
c.1972C>G (p.Pro658Ala)
c.2408C>G
c.8296C>G (p.Pro2766Ala)
n.11C>G
c.8305C>G (p.Pro2769Ala)
c.8287C>G (p.Pro2763Ala)
c.8215C>G (p.Pro2739Ala)
n.10628C>G
n.9617C>G
 gnomAD v4
12g.49039289G>TCA384742848KMT2Dc.8299C>A (p.Pro2767Thr)
c.8308C>A (p.Pro2770Thr)
c.2318C>A
c.1972C>A (p.Pro658Thr)
c.2408C>A
c.8296C>A (p.Pro2766Thr)
n.11C>A
c.8305C>A (p.Pro2769Thr)
c.8287C>A (p.Pro2763Thr)
c.8215C>A (p.Pro2739Thr)
n.10628C>A
n.9617C>A
12g.49039290G>ACA479710624KMT2Dc.8298C>T (p.Phe2766=)
c.8307C>T (p.Phe2769=)
c.2317C>T
c.1971C>T (p.Phe657=)
c.2407C>T
c.8295C>T (p.Phe2765=)
n.10C>T
c.8304C>T (p.Phe2768=)
c.8286C>T (p.Phe2762=)
c.8214C>T (p.Phe2738=)
n.10627C>T
n.9616C>T
 gnomAD v4
12g.49039290G>CCA384742857KMT2Dc.8298C>G (p.Phe2766Leu)
c.8307C>G (p.Phe2769Leu)
c.2317C>G
c.1971C>G (p.Phe657Leu)
c.2407C>G
c.8295C>G (p.Phe2765Leu)
n.10C>G
c.8304C>G (p.Phe2768Leu)
c.8286C>G (p.Phe2762Leu)
c.8214C>G (p.Phe2738Leu)
n.10627C>G
n.9616C>G
12g.49039290G>TCA384742858KMT2Dc.8298C>A (p.Phe2766Leu)
c.8307C>A (p.Phe2769Leu)
c.2317C>A
c.1971C>A (p.Phe657Leu)
c.2407C>A
c.8295C>A (p.Phe2765Leu)
n.10C>A
c.8304C>A (p.Phe2768Leu)
c.8286C>A (p.Phe2762Leu)
c.8214C>A (p.Phe2738Leu)
n.10627C>A
n.9616C>A
12g.49039291A>CCA384742860KMT2Dc.8297T>G (p.Phe2766Cys)
c.8306T>G (p.Phe2769Cys)
c.2316T>G
c.1970T>G (p.Phe657Cys)
c.2406T>G
c.8294T>G (p.Phe2765Cys)
n.9T>G
c.8303T>G (p.Phe2768Cys)
c.8285T>G (p.Phe2762Cys)
c.8213T>G (p.Phe2738Cys)
n.10626T>G
n.9615T>G
12g.49039291A>GCA384742864KMT2Dc.8297T>C (p.Phe2766Ser)
c.8306T>C (p.Phe2769Ser)
c.2316T>C
c.1970T>C (p.Phe657Ser)
c.2406T>C
c.8294T>C (p.Phe2765Ser)
n.9T>C
c.8303T>C (p.Phe2768Ser)
c.8285T>C (p.Phe2762Ser)
c.8213T>C (p.Phe2738Ser)
n.10626T>C
n.9615T>C
12g.49039291A>TCA384742866KMT2Dc.8297T>A (p.Phe2766Tyr)
c.8306T>A (p.Phe2769Tyr)
c.2316T>A
c.1970T>A (p.Phe657Tyr)
c.2406T>A
c.8294T>A (p.Phe2765Tyr)
n.9T>A
c.8303T>A (p.Phe2768Tyr)
c.8285T>A (p.Phe2762Tyr)
c.8213T>A (p.Phe2738Tyr)
n.10626T>A
n.9615T>A
12g.49039292A>CCA384742869KMT2Dc.8296T>G (p.Phe2766Val)
c.8305T>G (p.Phe2769Val)
c.2315T>G
c.1969T>G (p.Phe657Val)
c.2405T>G
c.8293T>G (p.Phe2765Val)
n.8T>G
c.8302T>G (p.Phe2768Val)
c.8284T>G (p.Phe2762Val)
c.8212T>G (p.Phe2738Val)
n.10625T>G
n.9614T>G
12g.49039292A>GCA384742871KMT2Dc.8296T>C (p.Phe2766Leu)
c.8305T>C (p.Phe2769Leu)
c.2315T>C
c.1969T>C (p.Phe657Leu)
c.2405T>C
c.8293T>C (p.Phe2765Leu)
n.8T>C
c.8302T>C (p.Phe2768Leu)
c.8284T>C (p.Phe2762Leu)
c.8212T>C (p.Phe2738Leu)
n.10625T>C
n.9614T>C
12g.49039292A>TCA384742874KMT2Dc.8296T>A (p.Phe2766Ile)
c.8305T>A (p.Phe2769Ile)
c.2315T>A
c.1969T>A (p.Phe657Ile)
c.2405T>A
c.8293T>A (p.Phe2765Ile)
n.8T>A
c.8302T>A (p.Phe2768Ile)
c.8284T>A (p.Phe2762Ile)
c.8212T>A (p.Phe2738Ile)
n.10625T>A
n.9614T>A
12g.49039293G>ACA479710625KMT2Dc.8295C>T (p.Ser2765=)
c.8304C>T (p.Ser2768=)
c.2314C>T
c.1968C>T (p.Ser656=)
c.2404C>T
c.8292C>T (p.Ser2764=)
n.7C>T
c.8301C>T (p.Ser2767=)
c.8283C>T (p.Ser2761=)
c.8211C>T (p.Ser2737=)
n.10624C>T
n.9613C>T
12g.49039293G>CCA479710626KMT2Dc.8295C>G (p.Ser2765=)
c.8304C>G (p.Ser2768=)
c.2314C>G
c.1968C>G (p.Ser656=)
c.2404C>G
c.8292C>G (p.Ser2764=)
n.7C>G
c.8301C>G (p.Ser2767=)
c.8283C>G (p.Ser2761=)
c.8211C>G (p.Ser2737=)
n.10624C>G
n.9613C>G
12g.49039293G>TCA479710627KMT2Dc.8295C>A (p.Ser2765=)
c.8304C>A (p.Ser2768=)
c.2314C>A
c.1968C>A (p.Ser656=)
c.2404C>A
c.8292C>A (p.Ser2764=)
n.7C>A
c.8301C>A (p.Ser2767=)
c.8283C>A (p.Ser2761=)
c.8211C>A (p.Ser2737=)
n.10624C>A
n.9613C>A
12g.49039294G>ACA384742877KMT2Dc.8294C>T (p.Ser2765Phe)
c.8303C>T (p.Ser2768Phe)
c.2313C>T
c.1967C>T (p.Ser656Phe)
c.2403C>T
c.8291C>T (p.Ser2764Phe)
n.6C>T
c.8300C>T (p.Ser2767Phe)
c.8282C>T (p.Ser2761Phe)
c.8210C>T (p.Ser2737Phe)
n.10623C>T
n.9612C>T
12g.49039294G>CCA384742879KMT2Dc.8294C>G (p.Ser2765Cys)
c.8303C>G (p.Ser2768Cys)
c.2313C>G
c.1967C>G (p.Ser656Cys)
c.2403C>G
c.8291C>G (p.Ser2764Cys)
n.6C>G
c.8300C>G (p.Ser2767Cys)
c.8282C>G (p.Ser2761Cys)
c.8210C>G (p.Ser2737Cys)
n.10623C>G
n.9612C>G
12g.49039294G>TCA384742881KMT2Dc.8294C>A (p.Ser2765Tyr)
c.8303C>A (p.Ser2768Tyr)
c.2313C>A
c.1967C>A (p.Ser656Tyr)
c.2403C>A
c.8291C>A (p.Ser2764Tyr)
n.6C>A
c.8300C>A (p.Ser2767Tyr)
c.8282C>A (p.Ser2761Tyr)
c.8210C>A (p.Ser2737Tyr)
n.10623C>A
n.9612C>A
 gnomAD v4
12g.49039295A>CCA384742884KMT2Dc.8293T>G (p.Ser2765Ala)
c.8302T>G (p.Ser2768Ala)
c.2312T>G
c.1966T>G (p.Ser656Ala)
c.2402T>G
c.8290T>G (p.Ser2764Ala)
n.5T>G
c.8299T>G (p.Ser2767Ala)
c.8281T>G (p.Ser2761Ala)
c.8209T>G (p.Ser2737Ala)
n.10622T>G
n.9611T>G
 dbSNP
12g.49039295A>GCA384742887KMT2Dc.8293T>C (p.Ser2765Pro)
c.8302T>C (p.Ser2768Pro)
c.2312T>C
c.1966T>C (p.Ser656Pro)
c.2402T>C
c.8290T>C (p.Ser2764Pro)
n.5T>C
c.8299T>C (p.Ser2767Pro)
c.8281T>C (p.Ser2761Pro)
c.8209T>C (p.Ser2737Pro)
n.10622T>C
n.9611T>C
 dbSNP
12g.49039295A>TCA384742886KMT2Dc.8293T>A (p.Ser2765Thr)
c.8302T>A (p.Ser2768Thr)
c.2312T>A
c.1966T>A (p.Ser656Thr)
c.2402T>A
c.8290T>A (p.Ser2764Thr)
n.5T>A
c.8299T>A (p.Ser2767Thr)
c.8281T>A (p.Ser2761Thr)
c.8209T>A (p.Ser2737Thr)
n.10622T>A
n.9611T>A
12g.49039296C>ACA479710630KMT2Dc.8292G>T (p.Gly2764=)
c.8301G>T (p.Gly2767=)
c.2311G>T
c.1965G>T (p.Gly655=)
c.2401G>T
c.8289G>T (p.Gly2763=)
n.4G>T
c.8298G>T (p.Gly2766=)
c.8280G>T (p.Gly2760=)
c.8208G>T (p.Gly2736=)
n.10621G>T
n.9610G>T
12g.49039296C=CA2034959162KMT2Dc.8292G= (p.Gly2764=)
c.8301G= (p.Gly2767=)
c.2311G=
c.1965G= (p.Gly655=)
c.2401G=
c.8289G= (p.Gly2763=)
n.4G=
c.8298G= (p.Gly2766=)
c.8280G= (p.Gly2760=)
c.8208G= (p.Gly2736=)
n.10621G=
n.9610G=
12g.49039296C>GCA479710632KMT2Dc.8292G>C (p.Gly2764=)
c.8301G>C (p.Gly2767=)
c.2311G>C
c.1965G>C (p.Gly655=)
c.2401G>C
c.8289G>C (p.Gly2763=)
n.4G>C
c.8298G>C (p.Gly2766=)
c.8280G>C (p.Gly2760=)
c.8208G>C (p.Gly2736=)
n.10621G>C
n.9610G>C
12g.49039296C>TCA479710631KMT2Dc.8292G>A (p.Gly2764=)
c.8301G>A (p.Gly2767=)
c.2311G>A
c.1965G>A (p.Gly655=)
c.2401G>A
c.8289G>A (p.Gly2763=)
n.4G>A
c.8298G>A (p.Gly2766=)
c.8280G>A (p.Gly2760=)
c.8208G>A (p.Gly2736=)
n.10621G>A
n.9610G>A
 dbSNP gnomAD v3 gnomAD v4
12g.49039298delCA2695216408KMT2Dc.8292del (p.Ser2765ProfsTer22)
c.8301del (p.Ser2768ProfsTer22)
c.2311del
c.1965del (p.Ser656ProfsTer22)
c.2401del
c.8289del (p.Ser2764ProfsTer22)
n.4del
c.8298del (p.Ser2767ProfsTer22)
c.8280del (p.Ser2761ProfsTer22)
c.8208del (p.Ser2737ProfsTer22)
n.10621del
n.9610del
12g.49039297C>ACA236646140KMT2Dc.8291G>T (p.Gly2764Val)
c.8300G>T (p.Gly2767Val)
c.2310G>T
c.1964G>T (p.Gly655Val)
c.2400G>T
c.8288G>T (p.Gly2763Val)
n.3G>T
c.8297G>T (p.Gly2766Val)
c.8279G>T (p.Gly2760Val)
c.8207G>T (p.Gly2736Val)
n.10620G>T
n.9609G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.49039297C=CA2034959166KMT2Dc.8291G= (p.Gly2764=)
c.8300G= (p.Gly2767=)
c.2310G=
c.1964G= (p.Gly655=)
c.2400G=
c.8288G= (p.Gly2763=)
n.3G=
c.8297G= (p.Gly2766=)
c.8279G= (p.Gly2760=)
c.8207G= (p.Gly2736=)
n.10620G=
n.9609G=
12g.49039297C>GCA384742892KMT2Dc.8291G>C (p.Gly2764Ala)
c.8300G>C (p.Gly2767Ala)
c.2310G>C
c.1964G>C (p.Gly655Ala)
c.2400G>C
c.8288G>C (p.Gly2763Ala)
n.3G>C
c.8297G>C (p.Gly2766Ala)
c.8279G>C (p.Gly2760Ala)
c.8207G>C (p.Gly2736Ala)
n.10620G>C
n.9609G>C
 gnomAD v4
12g.49039297C>TCA384742894KMT2Dc.8291G>A (p.Gly2764Glu)
c.8300G>A (p.Gly2767Glu)
c.2310G>A
c.1964G>A (p.Gly655Glu)
c.2400G>A
c.8288G>A (p.Gly2763Glu)
n.3G>A
c.8297G>A (p.Gly2766Glu)
c.8279G>A (p.Gly2760Glu)
c.8207G>A (p.Gly2736Glu)
n.10620G>A
n.9609G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49039298C>ACA384742900KMT2Dc.8290G>T (p.Gly2764Trp)
c.8299G>T (p.Gly2767Trp)
c.2309G>T
c.1963G>T (p.Gly655Trp)
c.2399G>T
c.8287G>T (p.Gly2763Trp)
n.2G>T
c.8296G>T (p.Gly2766Trp)
c.8278G>T (p.Gly2760Trp)
c.8206G>T (p.Gly2736Trp)
n.10619G>T
n.9608G>T
12g.49039298C=CA2034959170KMT2Dc.8290G= (p.Gly2764=)
c.8299G= (p.Gly2767=)
c.2309G=
c.1963G= (p.Gly655=)
c.2399G=
c.8287G= (p.Gly2763=)
n.2G=
c.8296G= (p.Gly2766=)
c.8278G= (p.Gly2760=)
c.8206G= (p.Gly2736=)
n.10619G=
n.9608G=
12g.49039298C>GCA236646149KMT2Dc.8290G>C (p.Gly2764Arg)
c.8299G>C (p.Gly2767Arg)
c.2309G>C
c.1963G>C (p.Gly655Arg)
c.2399G>C
c.8287G>C (p.Gly2763Arg)
n.2G>C
c.8296G>C (p.Gly2766Arg)
c.8278G>C (p.Gly2760Arg)
c.8206G>C (p.Gly2736Arg)
n.10619G>C
n.9608G>C
 dbSNP gnomAD v3 gnomAD v4
12g.49039298C>TCA384742902KMT2Dc.8290G>A (p.Gly2764Arg)
c.8299G>A (p.Gly2767Arg)
c.2309G>A
c.1963G>A (p.Gly655Arg)
c.2399G>A
c.8287G>A (p.Gly2763Arg)
n.2G>A
c.8296G>A (p.Gly2766Arg)
c.8278G>A (p.Gly2760Arg)
c.8206G>A (p.Gly2736Arg)
n.10619G>A
n.9608G>A
12g.49039299T>ACA479710635KMT2Dc.8289A>T (p.Pro2763=)
c.8298A>T (p.Pro2766=)
c.2308A>T
c.1962A>T (p.Pro654=)
c.2398A>T
c.8286A>T (p.Pro2762=)
n.1A>T
c.8295A>T (p.Pro2765=)
c.8277A>T (p.Pro2759=)
c.8205A>T (p.Pro2735=)
n.10618A>T
n.9607A>T
 dbSNP
12g.49039299T>CCA479710636KMT2Dc.8289A>G (p.Pro2763=)
c.8298A>G (p.Pro2766=)
c.2308A>G
c.1962A>G (p.Pro654=)
c.2398A>G
c.8286A>G (p.Pro2762=)
n.1A>G
c.8295A>G (p.Pro2765=)
c.8277A>G (p.Pro2759=)
c.8205A>G (p.Pro2735=)
n.10618A>G
n.9607A>G
12g.49039299T>GCA479710637KMT2Dc.8289A>C (p.Pro2763=)
c.8298A>C (p.Pro2766=)
c.2308A>C
c.1962A>C (p.Pro654=)
c.2398A>C
c.8286A>C (p.Pro2762=)
n.1A>C
c.8295A>C (p.Pro2765=)
c.8277A>C (p.Pro2759=)
c.8205A>C (p.Pro2735=)
n.10618A>C
n.9607A>C
12g.49039300G>ACA222116KMT2Dc.8288C>T (p.Pro2763Leu)
c.8297C>T (p.Pro2766Leu)
c.2307C>T
c.1961C>T (p.Pro654Leu)
c.2397C>T
c.8285C>T (p.Pro2762Leu)
c.8294C>T (p.Pro2765Leu)
c.8276C>T (p.Pro2759Leu)
c.8204C>T (p.Pro2735Leu)
n.10617C>T
n.9606C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039300G>CCA384742908KMT2Dc.8288C>G (p.Pro2763Arg)
c.8297C>G (p.Pro2766Arg)
c.2307C>G
c.1961C>G (p.Pro654Arg)
c.2397C>G
c.8285C>G (p.Pro2762Arg)
c.8294C>G (p.Pro2765Arg)
c.8276C>G (p.Pro2759Arg)
c.8204C>G (p.Pro2735Arg)
n.10617C>G
n.9606C>G
12g.49039300G=CA2034959174KMT2Dc.8288C= (p.Pro2763=)
c.8297C= (p.Pro2766=)
c.2307C=
c.1961C= (p.Pro654=)
c.2397C=
c.8285C= (p.Pro2762=)
c.8294C= (p.Pro2765=)
c.8276C= (p.Pro2759=)
c.8204C= (p.Pro2735=)
n.10617C=
n.9606C=
12g.49039300G>TCA384742911KMT2Dc.8288C>A (p.Pro2763Gln)
c.8297C>A (p.Pro2766Gln)
c.2307C>A
c.1961C>A (p.Pro654Gln)
c.2397C>A
c.8285C>A (p.Pro2762Gln)
c.8294C>A (p.Pro2765Gln)
c.8276C>A (p.Pro2759Gln)
c.8204C>A (p.Pro2735Gln)
n.10617C>A
n.9606C>A
12g.49039301G>ACA384742913KMT2Dc.8287C>T (p.Pro2763Ser)
c.8296C>T (p.Pro2766Ser)
c.2306C>T
c.1960C>T (p.Pro654Ser)
c.2396C>T
c.8284C>T (p.Pro2762Ser)
c.8293C>T (p.Pro2765Ser)
c.8275C>T (p.Pro2759Ser)
c.8203C>T (p.Pro2735Ser)
n.10616C>T
n.9605C>T
 dbSNP
12g.49039301G>CCA384742916KMT2Dc.8287C>G (p.Pro2763Ala)
c.8296C>G (p.Pro2766Ala)
c.2306C>G
c.1960C>G (p.Pro654Ala)
c.2396C>G
c.8284C>G (p.Pro2762Ala)
c.8293C>G (p.Pro2765Ala)
c.8275C>G (p.Pro2759Ala)
c.8203C>G (p.Pro2735Ala)
n.10616C>G
n.9605C>G
 ClinVar dbSNP gnomAD v2
12g.49039301G=CA2034959178KMT2Dc.8287C= (p.Pro2763=)
c.8296C= (p.Pro2766=)
c.2306C=
c.1960C= (p.Pro654=)
c.2396C=
c.8284C= (p.Pro2762=)
c.8293C= (p.Pro2765=)
c.8275C= (p.Pro2759=)
c.8203C= (p.Pro2735=)
n.10616C=
n.9605C=
12g.49039301G>TCA384742917KMT2Dc.8287C>A (p.Pro2763Thr)
c.8296C>A (p.Pro2766Thr)
c.2306C>A
c.1960C>A (p.Pro654Thr)
c.2396C>A
c.8284C>A (p.Pro2762Thr)
c.8293C>A (p.Pro2765Thr)
c.8275C>A (p.Pro2759Thr)
c.8203C>A (p.Pro2735Thr)
n.10616C>A
n.9605C>A
 ClinVar dbSNP
12g.49039302C>ACA479710638KMT2Dc.8286G>T (p.Gly2762=)
c.8295G>T (p.Gly2765=)
c.2305G>T
c.1959G>T (p.Gly653=)
c.2395G>T
c.8283G>T (p.Gly2761=)
c.8292G>T (p.Gly2764=)
c.8274G>T (p.Gly2758=)
c.8202G>T (p.Gly2734=)
n.10615G>T
n.9604G>T
 dbSNP
12g.49039302C=CA2034959182KMT2Dc.8286G= (p.Gly2762=)
c.8295G= (p.Gly2765=)
c.2305G=
c.1959G= (p.Gly653=)
c.2395G=
c.8283G= (p.Gly2761=)
c.8292G= (p.Gly2764=)
c.8274G= (p.Gly2758=)
c.8202G= (p.Gly2734=)
n.10615G=
n.9604G=
12g.49039302C>GCA479710639KMT2Dc.8286G>C (p.Gly2762=)
c.8295G>C (p.Gly2765=)
c.2305G>C
c.1959G>C (p.Gly653=)
c.2395G>C
c.8283G>C (p.Gly2761=)
c.8292G>C (p.Gly2764=)
c.8274G>C (p.Gly2758=)
c.8202G>C (p.Gly2734=)
n.10615G>C
n.9604G>C
12g.49039302C>TCA479710640KMT2Dc.8286G>A (p.Gly2762=)
c.8295G>A (p.Gly2765=)
c.2305G>A
c.1959G>A (p.Gly653=)
c.2395G>A
c.8283G>A (p.Gly2761=)
c.8292G>A (p.Gly2764=)
c.8274G>A (p.Gly2758=)
c.8202G>A (p.Gly2734=)
n.10615G>A
n.9604G>A
12g.49039305delCA645579662KMT2Dc.8286del (p.Pro2763GlnfsTer24)
c.8295del (p.Pro2766GlnfsTer24)
c.2305del
c.1959del (p.Pro654GlnfsTer24)
c.2395del
c.8283del (p.Pro2762GlnfsTer24)
c.8292del (p.Pro2765GlnfsTer24)
c.8274del (p.Pro2759GlnfsTer24)
c.8202del (p.Pro2735GlnfsTer24)
n.10615del
n.9604del
 dbSNP COSMIC COSMIC
12g.49039303C>ACA384742920KMT2Dc.8285G>T (p.Gly2762Val)
c.8294G>T (p.Gly2765Val)
c.2304G>T
c.1958G>T (p.Gly653Val)
c.2394G>T
c.8282G>T (p.Gly2761Val)
c.8291G>T (p.Gly2764Val)
c.8273G>T (p.Gly2758Val)
c.8201G>T (p.Gly2734Val)
n.10614G>T
n.9603G>T
12g.49039303C>GCA384742918KMT2Dc.8285G>C (p.Gly2762Ala)
c.8294G>C (p.Gly2765Ala)
c.2304G>C
c.1958G>C (p.Gly653Ala)
c.2394G>C
c.8282G>C (p.Gly2761Ala)
c.8291G>C (p.Gly2764Ala)
c.8273G>C (p.Gly2758Ala)
c.8201G>C (p.Gly2734Ala)
n.10614G>C
n.9603G>C
12g.49039303C>TCA384742919KMT2Dc.8285G>A (p.Gly2762Glu)
c.8294G>A (p.Gly2765Glu)
c.2304G>A
c.1958G>A (p.Gly653Glu)
c.2394G>A
c.8282G>A (p.Gly2761Glu)
c.8291G>A (p.Gly2764Glu)
c.8273G>A (p.Gly2758Glu)
c.8201G>A (p.Gly2734Glu)
n.10614G>A
n.9603G>A
12g.49039304C>ACA384742921KMT2Dc.8284G>T (p.Gly2762Trp)
c.8293G>T (p.Gly2765Trp)
c.2303G>T
c.1957G>T (p.Gly653Trp)
c.2393G>T
c.8281G>T (p.Gly2761Trp)
c.8290G>T (p.Gly2764Trp)
c.8272G>T (p.Gly2758Trp)
c.8200G>T (p.Gly2734Trp)
n.10613G>T
n.9602G>T
12g.49039304C>GCA384742922KMT2Dc.8284G>C (p.Gly2762Arg)
c.8293G>C (p.Gly2765Arg)
c.2303G>C
c.1957G>C (p.Gly653Arg)
c.2393G>C
c.8281G>C (p.Gly2761Arg)
c.8290G>C (p.Gly2764Arg)
c.8272G>C (p.Gly2758Arg)
c.8200G>C (p.Gly2734Arg)
n.10613G>C
n.9602G>C
12g.49039304C>TCA384742923KMT2Dc.8284G>A (p.Gly2762Arg)
c.8293G>A (p.Gly2765Arg)
c.2303G>A
c.1957G>A (p.Gly653Arg)
c.2393G>A
c.8281G>A (p.Gly2761Arg)
c.8290G>A (p.Gly2764Arg)
c.8272G>A (p.Gly2758Arg)
c.8200G>A (p.Gly2734Arg)
n.10613G>A
n.9602G>A
 dbSNP gnomAD v4
12g.49039305C>ACA479710645KMT2Dc.8283G>T (p.Leu2761=)
c.8292G>T (p.Leu2764=)
c.2302G>T
c.1956G>T (p.Leu652=)
c.2392G>T
c.8280G>T (p.Leu2760=)
c.8289G>T (p.Leu2763=)
c.8271G>T (p.Leu2757=)
c.8199G>T (p.Leu2733=)
n.10612G>T
n.9601G>T
12g.49039305C>GCA479710646KMT2Dc.8283G>C (p.Leu2761=)
c.8292G>C (p.Leu2764=)
c.2302G>C
c.1956G>C (p.Leu652=)
c.2392G>C
c.8280G>C (p.Leu2760=)
c.8289G>C (p.Leu2763=)
c.8271G>C (p.Leu2757=)
c.8199G>C (p.Leu2733=)
n.10612G>C
n.9601G>C
12g.49039305C>TCA479710647KMT2Dc.8283G>A (p.Leu2761=)
c.8292G>A (p.Leu2764=)
c.2302G>A
c.1956G>A (p.Leu652=)
c.2392G>A
c.8280G>A (p.Leu2760=)
c.8289G>A (p.Leu2763=)
c.8271G>A (p.Leu2757=)
c.8199G>A (p.Leu2733=)
n.10612G>A
n.9601G>A
12g.49039306A>CCA384742925KMT2Dc.8282T>G (p.Leu2761Arg)
c.8291T>G (p.Leu2764Arg)
c.2301T>G
c.1955T>G (p.Leu652Arg)
c.2391T>G
c.8279T>G (p.Leu2760Arg)
c.8288T>G (p.Leu2763Arg)
c.8270T>G (p.Leu2757Arg)
c.8198T>G (p.Leu2733Arg)
n.10611T>G
n.9600T>G
12g.49039306A>GCA384742926KMT2Dc.8282T>C (p.Leu2761Pro)
c.8291T>C (p.Leu2764Pro)
c.2301T>C
c.1955T>C (p.Leu652Pro)
c.2391T>C
c.8279T>C (p.Leu2760Pro)
c.8288T>C (p.Leu2763Pro)
c.8270T>C (p.Leu2757Pro)
c.8198T>C (p.Leu2733Pro)
n.10611T>C
n.9600T>C
 gnomAD v4
12g.49039306A>TCA384742927KMT2Dc.8282T>A (p.Leu2761Gln)
c.8291T>A (p.Leu2764Gln)
c.2301T>A
c.1955T>A (p.Leu652Gln)
c.2391T>A
c.8279T>A (p.Leu2760Gln)
c.8288T>A (p.Leu2763Gln)
c.8270T>A (p.Leu2757Gln)
c.8198T>A (p.Leu2733Gln)
n.10611T>A
n.9600T>A
12g.49039307G>ACA479710649KMT2Dc.8281C>T (p.Leu2761=)
c.8290C>T (p.Leu2764=)
c.2300C>T
c.1954C>T (p.Leu652=)
c.2390C>T
c.8278C>T (p.Leu2760=)
c.8287C>T (p.Leu2763=)
c.8269C>T (p.Leu2757=)
c.8197C>T (p.Leu2733=)
n.10610C>T
n.9599C>T
 gnomAD v4 COSMIC COSMIC
12g.49039307G>CCA384742929KMT2Dc.8281C>G (p.Leu2761Val)
c.8290C>G (p.Leu2764Val)
c.2300C>G
c.1954C>G (p.Leu652Val)
c.2390C>G
c.8278C>G (p.Leu2760Val)
c.8287C>G (p.Leu2763Val)
c.8269C>G (p.Leu2757Val)
c.8197C>G (p.Leu2733Val)
n.10610C>G
n.9599C>G
 dbSNP gnomAD v2 gnomAD v4
12g.49039307G=CA2034959185KMT2Dc.8281C= (p.Leu2761=)
c.8290C= (p.Leu2764=)
c.2300C=
c.1954C= (p.Leu652=)
c.2390C=
c.8278C= (p.Leu2760=)
c.8287C= (p.Leu2763=)
c.8269C= (p.Leu2757=)
c.8197C= (p.Leu2733=)
n.10610C=
n.9599C=
12g.49039307G>TCA384742931KMT2Dc.8281C>A (p.Leu2761Met)
c.8290C>A (p.Leu2764Met)
c.2300C>A
c.1954C>A (p.Leu652Met)
c.2390C>A
c.8278C>A (p.Leu2760Met)
c.8287C>A (p.Leu2763Met)
c.8269C>A (p.Leu2757Met)
c.8197C>A (p.Leu2733Met)
n.10610C>A
n.9599C>A
12g.49039307_49039308insACA645579663KMT2Dc.8280_8281insT (p.Leu2761SerfsTer8)
c.8289_8290insT (p.Leu2764SerfsTer8)
c.2299_2300insT
c.1953_1954insT (p.Leu652SerfsTer8)
c.2389_2390insT
c.8277_8278insT (p.Leu2760SerfsTer8)
c.8286_8287insT (p.Leu2763SerfsTer8)
c.8268_8269insT (p.Leu2757SerfsTer8)
c.8196_8197insT (p.Leu2733SerfsTer8)
n.10609_10610insT
n.9598_9599insT
 COSMIC COSMIC
12g.49039308G>ACA479710654KMT2Dc.8280C>T (p.Ile2760=)
c.8289C>T (p.Ile2763=)
c.2299C>T
c.1953C>T (p.Ile651=)
c.2389C>T
c.8277C>T (p.Ile2759=)
c.8286C>T (p.Ile2762=)
c.8268C>T (p.Ile2756=)
c.8196C>T (p.Ile2732=)
n.10609C>T
n.9598C>T
12g.49039308G>CCA384742935KMT2Dc.8280C>G (p.Ile2760Met)
c.8289C>G (p.Ile2763Met)
c.2299C>G
c.1953C>G (p.Ile651Met)
c.2389C>G
c.8277C>G (p.Ile2759Met)
c.8286C>G (p.Ile2762Met)
c.8268C>G (p.Ile2756Met)
c.8196C>G (p.Ile2732Met)
n.10609C>G
n.9598C>G
12g.49039308G>TCA479710655KMT2Dc.8280C>A (p.Ile2760=)
c.8289C>A (p.Ile2763=)
c.2299C>A
c.1953C>A (p.Ile651=)
c.2389C>A
c.8277C>A (p.Ile2759=)
c.8286C>A (p.Ile2762=)
c.8268C>A (p.Ile2756=)
c.8196C>A (p.Ile2732=)
n.10609C>A
n.9598C>A
12g.49039309A>CCA384742939KMT2Dc.8279T>G (p.Ile2760Ser)
c.8288T>G (p.Ile2763Ser)
c.2298T>G
c.1952T>G (p.Ile651Ser)
c.2388T>G
c.8276T>G (p.Ile2759Ser)
c.8285T>G (p.Ile2762Ser)
c.8267T>G (p.Ile2756Ser)
c.8195T>G (p.Ile2732Ser)
n.10608T>G
n.9597T>G
12g.49039309A>GCA384742941KMT2Dc.8279T>C (p.Ile2760Thr)
c.8288T>C (p.Ile2763Thr)
c.2298T>C
c.1952T>C (p.Ile651Thr)
c.2388T>C
c.8276T>C (p.Ile2759Thr)
c.8285T>C (p.Ile2762Thr)
c.8267T>C (p.Ile2756Thr)
c.8195T>C (p.Ile2732Thr)
n.10608T>C
n.9597T>C
12g.49039309A>TCA384742944KMT2Dc.8279T>A (p.Ile2760Asn)
c.8288T>A (p.Ile2763Asn)
c.2298T>A
c.1952T>A (p.Ile651Asn)
c.2388T>A
c.8276T>A (p.Ile2759Asn)
c.8285T>A (p.Ile2762Asn)
c.8267T>A (p.Ile2756Asn)
c.8195T>A (p.Ile2732Asn)
n.10608T>A
n.9597T>A
 gnomAD v4
12g.49039310T>ACA384742951KMT2Dc.8278A>T (p.Ile2760Phe)
c.8287A>T (p.Ile2763Phe)
c.2297A>T
c.1951A>T (p.Ile651Phe)
c.2387A>T
c.8275A>T (p.Ile2759Phe)
c.8284A>T (p.Ile2762Phe)
c.8266A>T (p.Ile2756Phe)
c.8194A>T (p.Ile2732Phe)
n.10607A>T
n.9596A>T
12g.49039310T>CCA384742953KMT2Dc.8278A>G (p.Ile2760Val)
c.8287A>G (p.Ile2763Val)
c.2297A>G
c.1951A>G (p.Ile651Val)
c.2387A>G
c.8275A>G (p.Ile2759Val)
c.8284A>G (p.Ile2762Val)
c.8266A>G (p.Ile2756Val)
c.8194A>G (p.Ile2732Val)
n.10607A>G
n.9596A>G
 gnomAD v4
12g.49039310T>GCA384742949KMT2Dc.8278A>C (p.Ile2760Leu)
c.8287A>C (p.Ile2763Leu)
c.2297A>C
c.1951A>C (p.Ile651Leu)
c.2387A>C
c.8275A>C (p.Ile2759Leu)
c.8284A>C (p.Ile2762Leu)
c.8266A>C (p.Ile2756Leu)
c.8194A>C (p.Ile2732Leu)
n.10607A>C
n.9596A>C
12g.49039311G>ACA479710657KMT2Dc.8277C>T (p.Pro2759=)
c.8286C>T (p.Pro2762=)
c.2296C>T
c.1950C>T (p.Pro650=)
c.2386C>T
c.8274C>T (p.Pro2758=)
c.8283C>T (p.Pro2761=)
c.8265C>T (p.Pro2755=)
c.8193C>T (p.Pro2731=)
n.10606C>T
n.9595C>T
 gnomAD v4
12g.49039311G>CCA479710659KMT2Dc.8277C>G (p.Pro2759=)
c.8286C>G (p.Pro2762=)
c.2296C>G
c.1950C>G (p.Pro650=)
c.2386C>G
c.8274C>G (p.Pro2758=)
c.8283C>G (p.Pro2761=)
c.8265C>G (p.Pro2755=)
c.8193C>G (p.Pro2731=)
n.10606C>G
n.9595C>G
12g.49039311G>TCA479710660KMT2Dc.8277C>A (p.Pro2759=)
c.8286C>A (p.Pro2762=)
c.2296C>A
c.1950C>A (p.Pro650=)
c.2386C>A
c.8274C>A (p.Pro2758=)
c.8283C>A (p.Pro2761=)
c.8265C>A (p.Pro2755=)
c.8193C>A (p.Pro2731=)
n.10606C>A
n.9595C>A
12g.49039312G>ACA384742961KMT2Dc.8276C>T (p.Pro2759Leu)
c.8285C>T (p.Pro2762Leu)
c.2295C>T
c.1949C>T (p.Pro650Leu)
c.2385C>T
c.8273C>T (p.Pro2758Leu)
c.8282C>T (p.Pro2761Leu)
c.8264C>T (p.Pro2755Leu)
c.8192C>T (p.Pro2731Leu)
n.10605C>T
n.9594C>T
 gnomAD v4
12g.49039312G>CCA384742957KMT2Dc.8276C>G (p.Pro2759Arg)
c.8285C>G (p.Pro2762Arg)
c.2295C>G
c.1949C>G (p.Pro650Arg)
c.2385C>G
c.8273C>G (p.Pro2758Arg)
c.8282C>G (p.Pro2761Arg)
c.8264C>G (p.Pro2755Arg)
c.8192C>G (p.Pro2731Arg)
n.10605C>G
n.9594C>G
12g.49039312G>TCA384742959KMT2Dc.8276C>A (p.Pro2759His)
c.8285C>A (p.Pro2762His)
c.2295C>A
c.1949C>A (p.Pro650His)
c.2385C>A
c.8273C>A (p.Pro2758His)
c.8282C>A (p.Pro2761His)
c.8264C>A (p.Pro2755His)
c.8192C>A (p.Pro2731His)
n.10605C>A
n.9594C>A
12g.49039313G>ACA384742964KMT2Dc.8275C>T (p.Pro2759Ser)
c.8284C>T (p.Pro2762Ser)
c.2294C>T
c.1948C>T (p.Pro650Ser)
c.2384C>T
c.8272C>T (p.Pro2758Ser)
c.8281C>T (p.Pro2761Ser)
c.8263C>T (p.Pro2755Ser)
c.8191C>T (p.Pro2731Ser)
n.10604C>T
n.9593C>T
 gnomAD v4
12g.49039313G>CCA384742965KMT2Dc.8275C>G (p.Pro2759Ala)
c.8284C>G (p.Pro2762Ala)
c.2294C>G
c.1948C>G (p.Pro650Ala)
c.2384C>G
c.8272C>G (p.Pro2758Ala)
c.8281C>G (p.Pro2761Ala)
c.8263C>G (p.Pro2755Ala)
c.8191C>G (p.Pro2731Ala)
n.10604C>G
n.9593C>G
12g.49039313G>TCA384742967KMT2Dc.8275C>A (p.Pro2759Thr)
c.8284C>A (p.Pro2762Thr)
c.2294C>A
c.1948C>A (p.Pro650Thr)
c.2384C>A
c.8272C>A (p.Pro2758Thr)
c.8281C>A (p.Pro2761Thr)
c.8263C>A (p.Pro2755Thr)
c.8191C>A (p.Pro2731Thr)
n.10604C>A
n.9593C>A
12g.49039314G>ACA479710663KMT2Dc.8274C>T (p.Gly2758=)
c.8283C>T (p.Gly2761=)
c.2293C>T
c.1947C>T (p.Gly649=)
c.2383C>T
c.8271C>T (p.Gly2757=)
c.8280C>T (p.Gly2760=)
c.8262C>T (p.Gly2754=)
c.8190C>T (p.Gly2730=)
n.10603C>T
n.9592C>T
 dbSNP
12g.49039314G>CCA479710664KMT2Dc.8274C>G (p.Gly2758=)
c.8283C>G (p.Gly2761=)
c.2293C>G
c.1947C>G (p.Gly649=)
c.2383C>G
c.8271C>G (p.Gly2757=)
c.8280C>G (p.Gly2760=)
c.8262C>G (p.Gly2754=)
c.8190C>G (p.Gly2730=)
n.10603C>G
n.9592C>G
12g.49039314G>TCA479710665KMT2Dc.8274C>A (p.Gly2758=)
c.8283C>A (p.Gly2761=)
c.2293C>A
c.1947C>A (p.Gly649=)
c.2383C>A
c.8271C>A (p.Gly2757=)
c.8280C>A (p.Gly2760=)
c.8262C>A (p.Gly2754=)
c.8190C>A (p.Gly2730=)
n.10603C>A
n.9592C>A
12g.49039315C>ACA384742976KMT2Dc.8273G>T (p.Gly2758Val)
c.8282G>T (p.Gly2761Val)
c.2292G>T
c.1946G>T (p.Gly649Val)
c.2382G>T
c.8270G>T (p.Gly2757Val)
c.8279G>T (p.Gly2760Val)
c.8261G>T (p.Gly2754Val)
c.8189G>T (p.Gly2730Val)
n.10602G>T
n.9591G>T
 dbSNP gnomAD v3 gnomAD v4
12g.49039315C=CA2034959188KMT2Dc.8273G= (p.Gly2758=)
c.8282G= (p.Gly2761=)
c.2292G=
c.1946G= (p.Gly649=)
c.2382G=
c.8270G= (p.Gly2757=)
c.8279G= (p.Gly2760=)
c.8261G= (p.Gly2754=)
c.8189G= (p.Gly2730=)
n.10602G=
n.9591G=
12g.49039315C>GCA384742972KMT2Dc.8273G>C (p.Gly2758Ala)
c.8282G>C (p.Gly2761Ala)
c.2292G>C
c.1946G>C (p.Gly649Ala)
c.2382G>C
c.8270G>C (p.Gly2757Ala)
c.8279G>C (p.Gly2760Ala)
c.8261G>C (p.Gly2754Ala)
c.8189G>C (p.Gly2730Ala)
n.10602G>C
n.9591G>C
12g.49039315C>TCA384742970KMT2Dc.8273G>A (p.Gly2758Asp)
c.8282G>A (p.Gly2761Asp)
c.2292G>A
c.1946G>A (p.Gly649Asp)
c.2382G>A
c.8270G>A (p.Gly2757Asp)
c.8279G>A (p.Gly2760Asp)
c.8261G>A (p.Gly2754Asp)
c.8189G>A (p.Gly2730Asp)
n.10602G>A
n.9591G>A
12g.49039316delCA2695216409KMT2Dc.8273del (p.Gly2758AlafsTer29)
c.8282del (p.Gly2761AlafsTer29)
c.2292del
c.1946del (p.Gly649AlafsTer29)
c.2382del
c.8270del (p.Gly2757AlafsTer29)
c.8279del (p.Gly2760AlafsTer29)
c.8261del (p.Gly2754AlafsTer29)
c.8189del (p.Gly2730AlafsTer29)
n.10602del
n.9591del
12g.49039316C>ACA384742978KMT2Dc.8272G>T (p.Gly2758Cys)
c.8281G>T (p.Gly2761Cys)
c.2291G>T
c.1945G>T (p.Gly649Cys)
c.2381G>T
c.8269G>T (p.Gly2757Cys)
c.8278G>T (p.Gly2760Cys)
c.8260G>T (p.Gly2754Cys)
c.8188G>T (p.Gly2730Cys)
n.10601G>T
n.9590G>T
 dbSNP
12g.49039316C=CA2034959191KMT2Dc.8272G= (p.Gly2758=)
c.8281G= (p.Gly2761=)
c.2291G=
c.1945G= (p.Gly649=)
c.2381G=
c.8269G= (p.Gly2757=)
c.8278G= (p.Gly2760=)
c.8260G= (p.Gly2754=)
c.8188G= (p.Gly2730=)
n.10601G=
n.9590G=
12g.49039316C>GCA384742980KMT2Dc.8272G>C (p.Gly2758Arg)
c.8281G>C (p.Gly2761Arg)
c.2291G>C
c.1945G>C (p.Gly649Arg)
c.2381G>C
c.8269G>C (p.Gly2757Arg)
c.8278G>C (p.Gly2760Arg)
c.8260G>C (p.Gly2754Arg)
c.8188G>C (p.Gly2730Arg)
n.10601G>C
n.9590G>C
12g.49039316C>TCA384742981KMT2Dc.8272G>A (p.Gly2758Ser)
c.8281G>A (p.Gly2761Ser)
c.2291G>A
c.1945G>A (p.Gly649Ser)
c.2381G>A
c.8269G>A (p.Gly2757Ser)
c.8278G>A (p.Gly2760Ser)
c.8260G>A (p.Gly2754Ser)
c.8188G>A (p.Gly2730Ser)
n.10601G>A
n.9590G>A
12g.49039317A=CA2034959194KMT2Dc.8271T= (p.Ser2757=)
c.8280T= (p.Ser2760=)
c.2290T=
c.1944T= (p.Ser648=)
c.2380T=
c.8268T= (p.Ser2756=)
c.8277T= (p.Ser2759=)
c.8259T= (p.Ser2753=)
c.8187T= (p.Ser2729=)
n.10600T=
n.9589T=
12g.49039317A>CCA384742984KMT2Dc.8271T>G (p.Ser2757Arg)
c.8280T>G (p.Ser2760Arg)
c.2290T>G
c.1944T>G (p.Ser648Arg)
c.2380T>G
c.8268T>G (p.Ser2756Arg)
c.8277T>G (p.Ser2759Arg)
c.8259T>G (p.Ser2753Arg)
c.8187T>G (p.Ser2729Arg)
n.10600T>G
n.9589T>G
12g.49039317A>GCA6546873KMT2Dc.8271T>C (p.Ser2757=)
c.8280T>C (p.Ser2760=)
c.2290T>C
c.1944T>C (p.Ser648=)
c.2380T>C
c.8268T>C (p.Ser2756=)
c.8277T>C (p.Ser2759=)
c.8259T>C (p.Ser2753=)
c.8187T>C (p.Ser2729=)
n.10600T>C
n.9589T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039317A>TCA384742990KMT2Dc.8271T>A (p.Ser2757Arg)
c.8280T>A (p.Ser2760Arg)
c.2290T>A
c.1944T>A (p.Ser648Arg)
c.2380T>A
c.8268T>A (p.Ser2756Arg)
c.8277T>A (p.Ser2759Arg)
c.8259T>A (p.Ser2753Arg)
c.8187T>A (p.Ser2729Arg)
n.10600T>A
n.9589T>A
12g.49039318C>ACA384742998KMT2Dc.8270G>T (p.Ser2757Ile)
c.8279G>T (p.Ser2760Ile)
c.2289G>T
c.1943G>T (p.Ser648Ile)
c.2379G>T
c.8267G>T (p.Ser2756Ile)
c.8276G>T (p.Ser2759Ile)
c.8258G>T (p.Ser2753Ile)
c.8186G>T (p.Ser2729Ile)
n.10599G>T
n.9588G>T
12g.49039318C>GCA384742993KMT2Dc.8270G>C (p.Ser2757Thr)
c.8279G>C (p.Ser2760Thr)
c.2289G>C
c.1943G>C (p.Ser648Thr)
c.2379G>C
c.8267G>C (p.Ser2756Thr)
c.8276G>C (p.Ser2759Thr)
c.8258G>C (p.Ser2753Thr)
c.8186G>C (p.Ser2729Thr)
n.10599G>C
n.9588G>C
 dbSNP gnomAD v4
12g.49039318C>TCA384742995KMT2Dc.8270G>A (p.Ser2757Asn)
c.8279G>A (p.Ser2760Asn)
c.2289G>A
c.1943G>A (p.Ser648Asn)
c.2379G>A
c.8267G>A (p.Ser2756Asn)
c.8276G>A (p.Ser2759Asn)
c.8258G>A (p.Ser2753Asn)
c.8186G>A (p.Ser2729Asn)
n.10599G>A
n.9588G>A
 gnomAD v4
12g.49039319T>ACA384743000KMT2Dc.8269A>T (p.Ser2757Cys)
c.8278A>T (p.Ser2760Cys)
c.2288A>T
c.1942A>T (p.Ser648Cys)
c.2378A>T
c.8266A>T (p.Ser2756Cys)
c.8275A>T (p.Ser2759Cys)
c.8257A>T (p.Ser2753Cys)
c.8185A>T (p.Ser2729Cys)
n.10598A>T
n.9587A>T
12g.49039319T>CCA384743003KMT2Dc.8269A>G (p.Ser2757Gly)
c.8278A>G (p.Ser2760Gly)
c.2288A>G
c.1942A>G (p.Ser648Gly)
c.2378A>G
c.8266A>G (p.Ser2756Gly)
c.8275A>G (p.Ser2759Gly)
c.8257A>G (p.Ser2753Gly)
c.8185A>G (p.Ser2729Gly)
n.10598A>G
n.9587A>G
12g.49039319T>GCA384743005KMT2Dc.8269A>C (p.Ser2757Arg)
c.8278A>C (p.Ser2760Arg)
c.2288A>C
c.1942A>C (p.Ser648Arg)
c.2378A>C
c.8266A>C (p.Ser2756Arg)
c.8275A>C (p.Ser2759Arg)
c.8257A>C (p.Ser2753Arg)
c.8185A>C (p.Ser2729Arg)
n.10598A>C
n.9587A>C
12g.49039320C>ACA479710675KMT2Dc.8268G>T (p.Leu2756=)
c.8277G>T (p.Leu2759=)
c.2287G>T
c.1941G>T (p.Leu647=)
c.2377G>T
c.8265G>T (p.Leu2755=)
c.8274G>T (p.Leu2758=)
c.8256G>T (p.Leu2752=)
c.8184G>T (p.Leu2728=)
n.10597G>T
n.9586G>T
12g.49039320C=CA2034959200KMT2Dc.8268G= (p.Leu2756=)
c.8277G= (p.Leu2759=)
c.2287G=
c.1941G= (p.Leu647=)
c.2377G=
c.8265G= (p.Leu2755=)
c.8274G= (p.Leu2758=)
c.8256G= (p.Leu2752=)
c.8184G= (p.Leu2728=)
n.10597G=
n.9586G=
12g.49039320C>GCA479710676KMT2Dc.8268G>C (p.Leu2756=)
c.8277G>C (p.Leu2759=)
c.2287G>C
c.1941G>C (p.Leu647=)
c.2377G>C
c.8265G>C (p.Leu2755=)
c.8274G>C (p.Leu2758=)
c.8256G>C (p.Leu2752=)
c.8184G>C (p.Leu2728=)
n.10597G>C
n.9586G>C
 dbSNP
12g.49039320C>TCA479710677KMT2Dc.8268G>A (p.Leu2756=)
c.8277G>A (p.Leu2759=)
c.2287G>A
c.1941G>A (p.Leu647=)
c.2377G>A
c.8265G>A (p.Leu2755=)
c.8274G>A (p.Leu2758=)
c.8256G>A (p.Leu2752=)
c.8184G>A (p.Leu2728=)
n.10597G>A
n.9586G>A
 ClinVar dbSNP gnomAD v4
12g.49039321A>CCA384743007KMT2Dc.8267T>G (p.Leu2756Arg)
c.8276T>G (p.Leu2759Arg)
c.2286T>G
c.1940T>G (p.Leu647Arg)
c.2376T>G
c.8264T>G (p.Leu2755Arg)
c.8273T>G (p.Leu2758Arg)
c.8255T>G (p.Leu2752Arg)
c.8183T>G (p.Leu2728Arg)
n.10596T>G
n.9585T>G
12g.49039321A>GCA384743010KMT2Dc.8267T>C (p.Leu2756Pro)
c.8276T>C (p.Leu2759Pro)
c.2286T>C
c.1940T>C (p.Leu647Pro)
c.2376T>C
c.8264T>C (p.Leu2755Pro)
c.8273T>C (p.Leu2758Pro)
c.8255T>C (p.Leu2752Pro)
c.8183T>C (p.Leu2728Pro)
n.10596T>C
n.9585T>C
 gnomAD v4
12g.49039321A>TCA384743012KMT2Dc.8267T>A (p.Leu2756Gln)
c.8276T>A (p.Leu2759Gln)
c.2286T>A
c.1940T>A (p.Leu647Gln)
c.2376T>A
c.8264T>A (p.Leu2755Gln)
c.8273T>A (p.Leu2758Gln)
c.8255T>A (p.Leu2752Gln)
c.8183T>A (p.Leu2728Gln)
n.10596T>A
n.9585T>A

Number of alleles fetched