Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118504362C>ACA382814011KMT2Ac.8569C>A (p.Leu2857Met)
c.8560C>A (p.Leu2854Met)
c.2509C>A (p.Leu837Met)
c.2767C>A (p.Leu923Met)
c.8542C>A (p.Leu2848Met)
c.8461C>A (p.Leu2821Met)
n.7812C>A
c.8470C>A (p.Leu2824Met)
c.8347C>A (p.Leu2783Met)
c.5953C>A (p.Leu1985Met)
c.8566C>A (p.Leu2856Met)
c.6376C>A (p.Leu2126Met)
c.6052C>A (p.Leu2018Met)
11g.118504362C>GCA382814019KMT2Ac.8569C>G (p.Leu2857Val)
c.8560C>G (p.Leu2854Val)
c.2509C>G (p.Leu837Val)
c.2767C>G (p.Leu923Val)
c.8542C>G (p.Leu2848Val)
c.8461C>G (p.Leu2821Val)
n.7812C>G
c.8470C>G (p.Leu2824Val)
c.8347C>G (p.Leu2783Val)
c.5953C>G (p.Leu1985Val)
c.8566C>G (p.Leu2856Val)
c.6376C>G (p.Leu2126Val)
c.6052C>G (p.Leu2018Val)
11g.118504362C>TCA477360257KMT2Ac.8569C>T (p.Leu2857=)
c.8560C>T (p.Leu2854=)
c.2509C>T (p.Leu837=)
c.2767C>T (p.Leu923=)
c.8542C>T (p.Leu2848=)
c.8461C>T (p.Leu2821=)
n.7812C>T
c.8470C>T (p.Leu2824=)
c.8347C>T (p.Leu2783=)
c.5953C>T (p.Leu1985=)
c.8566C>T (p.Leu2856=)
c.6376C>T (p.Leu2126=)
c.6052C>T (p.Leu2018=)
11g.118504363T>ACA382814023KMT2Ac.8570T>A (p.Leu2857Gln)
c.8561T>A (p.Leu2854Gln)
c.2510T>A (p.Leu837Gln)
c.2768T>A (p.Leu923Gln)
c.8543T>A (p.Leu2848Gln)
c.8462T>A (p.Leu2821Gln)
n.7813T>A
c.8471T>A (p.Leu2824Gln)
c.8348T>A (p.Leu2783Gln)
c.5954T>A (p.Leu1985Gln)
c.8567T>A (p.Leu2856Gln)
c.6377T>A (p.Leu2126Gln)
c.6053T>A (p.Leu2018Gln)
11g.118504363T>CCA382814024KMT2Ac.8570T>C (p.Leu2857Pro)
c.8561T>C (p.Leu2854Pro)
c.2510T>C (p.Leu837Pro)
c.2768T>C (p.Leu923Pro)
c.8543T>C (p.Leu2848Pro)
c.8462T>C (p.Leu2821Pro)
n.7813T>C
c.8471T>C (p.Leu2824Pro)
c.8348T>C (p.Leu2783Pro)
c.5954T>C (p.Leu1985Pro)
c.8567T>C (p.Leu2856Pro)
c.6377T>C (p.Leu2126Pro)
c.6053T>C (p.Leu2018Pro)
dbSNP gnomAD v2 gnomAD v4
11g.118504363T>GCA382814026KMT2Ac.8570T>G (p.Leu2857Arg)
c.8561T>G (p.Leu2854Arg)
c.2510T>G (p.Leu837Arg)
c.2768T>G (p.Leu923Arg)
c.8543T>G (p.Leu2848Arg)
c.8462T>G (p.Leu2821Arg)
n.7813T>G
c.8471T>G (p.Leu2824Arg)
c.8348T>G (p.Leu2783Arg)
c.5954T>G (p.Leu1985Arg)
c.8567T>G (p.Leu2856Arg)
c.6377T>G (p.Leu2126Arg)
c.6053T>G (p.Leu2018Arg)
11g.118504363T=CA2003528868KMT2Ac.8570T= (p.Leu2857=)
c.8561T= (p.Leu2854=)
c.2510T= (p.Leu837=)
c.2768T= (p.Leu923=)
c.8543T= (p.Leu2848=)
c.8462T= (p.Leu2821=)
n.7813T=
c.8471T= (p.Leu2824=)
c.8348T= (p.Leu2783=)
c.5954T= (p.Leu1985=)
c.8567T= (p.Leu2856=)
c.6377T= (p.Leu2126=)
c.6053T= (p.Leu2018=)
11g.118504364G>ACA6304506KMT2Ac.8571G>A (p.Leu2857=)
c.8562G>A (p.Leu2854=)
c.2511G>A (p.Leu837=)
c.2769G>A (p.Leu923=)
c.8544G>A (p.Leu2848=)
c.8463G>A (p.Leu2821=)
n.7814G>A
c.8472G>A (p.Leu2824=)
c.8349G>A (p.Leu2783=)
c.5955G>A (p.Leu1985=)
c.8568G>A (p.Leu2856=)
c.6378G>A (p.Leu2126=)
c.6054G>A (p.Leu2018=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118504364G>CCA477360268KMT2Ac.8571G>C (p.Leu2857=)
c.8562G>C (p.Leu2854=)
c.2511G>C (p.Leu837=)
c.2769G>C (p.Leu923=)
c.8544G>C (p.Leu2848=)
c.8463G>C (p.Leu2821=)
n.7814G>C
c.8472G>C (p.Leu2824=)
c.8349G>C (p.Leu2783=)
c.5955G>C (p.Leu1985=)
c.8568G>C (p.Leu2856=)
c.6378G>C (p.Leu2126=)
c.6054G>C (p.Leu2018=)
11g.118504364G=CA2003528870KMT2Ac.8571G= (p.Leu2857=)
c.8562G= (p.Leu2854=)
c.2511G= (p.Leu837=)
c.2769G= (p.Leu923=)
c.8544G= (p.Leu2848=)
c.8463G= (p.Leu2821=)
n.7814G=
c.8472G= (p.Leu2824=)
c.8349G= (p.Leu2783=)
c.5955G= (p.Leu1985=)
c.8568G= (p.Leu2856=)
c.6378G= (p.Leu2126=)
c.6054G= (p.Leu2018=)
11g.118504364G>TCA477360266KMT2Ac.8571G>T (p.Leu2857=)
c.8562G>T (p.Leu2854=)
c.2511G>T (p.Leu837=)
c.2769G>T (p.Leu923=)
c.8544G>T (p.Leu2848=)
c.8463G>T (p.Leu2821=)
n.7814G>T
c.8472G>T (p.Leu2824=)
c.8349G>T (p.Leu2783=)
c.5955G>T (p.Leu1985=)
c.8568G>T (p.Leu2856=)
c.6378G>T (p.Leu2126=)
c.6054G>T (p.Leu2018=)
11g.118504365G>ACA382814033KMT2Ac.8572G>A (p.Asp2858Asn)
c.8563G>A (p.Asp2855Asn)
c.2512G>A (p.Asp838Asn)
c.2770G>A (p.Asp924Asn)
c.8545G>A (p.Asp2849Asn)
c.8464G>A (p.Asp2822Asn)
n.7815G>A
c.8473G>A (p.Asp2825Asn)
c.8350G>A (p.Asp2784Asn)
c.5956G>A (p.Asp1986Asn)
c.8569G>A (p.Asp2857Asn)
c.6379G>A (p.Asp2127Asn)
c.6055G>A (p.Asp2019Asn)
dbSNP
11g.118504365G>CCA382814035KMT2Ac.8572G>C (p.Asp2858His)
c.8563G>C (p.Asp2855His)
c.2512G>C (p.Asp838His)
c.2770G>C (p.Asp924His)
c.8545G>C (p.Asp2849His)
c.8464G>C (p.Asp2822His)
n.7815G>C
c.8473G>C (p.Asp2825His)
c.8350G>C (p.Asp2784His)
c.5956G>C (p.Asp1986His)
c.8569G>C (p.Asp2857His)
c.6379G>C (p.Asp2127His)
c.6055G>C (p.Asp2019His)
dbSNP gnomAD v4
11g.118504365G>TCA382814038KMT2Ac.8572G>T (p.Asp2858Tyr)
c.8563G>T (p.Asp2855Tyr)
c.2512G>T (p.Asp838Tyr)
c.2770G>T (p.Asp924Tyr)
c.8545G>T (p.Asp2849Tyr)
c.8464G>T (p.Asp2822Tyr)
n.7815G>T
c.8473G>T (p.Asp2825Tyr)
c.8350G>T (p.Asp2784Tyr)
c.5956G>T (p.Asp1986Tyr)
c.8569G>T (p.Asp2857Tyr)
c.6379G>T (p.Asp2127Tyr)
c.6055G>T (p.Asp2019Tyr)
11g.118504366A>CCA382814041KMT2Ac.8573A>C (p.Asp2858Ala)
c.8564A>C (p.Asp2855Ala)
c.2513A>C (p.Asp838Ala)
c.2771A>C (p.Asp924Ala)
c.8546A>C (p.Asp2849Ala)
c.8465A>C (p.Asp2822Ala)
n.7816A>C
c.8474A>C (p.Asp2825Ala)
c.8351A>C (p.Asp2784Ala)
c.5957A>C (p.Asp1986Ala)
c.8570A>C (p.Asp2857Ala)
c.6380A>C (p.Asp2127Ala)
c.6056A>C (p.Asp2019Ala)
11g.118504366A>GCA382814047KMT2Ac.8573A>G (p.Asp2858Gly)
c.8564A>G (p.Asp2855Gly)
c.2513A>G (p.Asp838Gly)
c.2771A>G (p.Asp924Gly)
c.8546A>G (p.Asp2849Gly)
c.8465A>G (p.Asp2822Gly)
n.7816A>G
c.8474A>G (p.Asp2825Gly)
c.8351A>G (p.Asp2784Gly)
c.5957A>G (p.Asp1986Gly)
c.8570A>G (p.Asp2857Gly)
c.6380A>G (p.Asp2127Gly)
c.6056A>G (p.Asp2019Gly)
11g.118504366A>TCA382814046KMT2Ac.8573A>T (p.Asp2858Val)
c.8564A>T (p.Asp2855Val)
c.2513A>T (p.Asp838Val)
c.2771A>T (p.Asp924Val)
c.8546A>T (p.Asp2849Val)
c.8465A>T (p.Asp2822Val)
n.7816A>T
c.8474A>T (p.Asp2825Val)
c.8351A>T (p.Asp2784Val)
c.5957A>T (p.Asp1986Val)
c.8570A>T (p.Asp2857Val)
c.6380A>T (p.Asp2127Val)
c.6056A>T (p.Asp2019Val)
11g.118504367C>ACA382814049KMT2Ac.8574C>A (p.Asp2858Glu)
c.8565C>A (p.Asp2855Glu)
c.2514C>A (p.Asp838Glu)
c.2772C>A (p.Asp924Glu)
c.8547C>A (p.Asp2849Glu)
c.8466C>A (p.Asp2822Glu)
n.7817C>A
c.8475C>A (p.Asp2825Glu)
c.8352C>A (p.Asp2784Glu)
c.5958C>A (p.Asp1986Glu)
c.8571C>A (p.Asp2857Glu)
c.6381C>A (p.Asp2127Glu)
c.6057C>A (p.Asp2019Glu)
11g.118504367C>GCA382814051KMT2Ac.8574C>G (p.Asp2858Glu)
c.8565C>G (p.Asp2855Glu)
c.2514C>G (p.Asp838Glu)
c.2772C>G (p.Asp924Glu)
c.8547C>G (p.Asp2849Glu)
c.8466C>G (p.Asp2822Glu)
n.7817C>G
c.8475C>G (p.Asp2825Glu)
c.8352C>G (p.Asp2784Glu)
c.5958C>G (p.Asp1986Glu)
c.8571C>G (p.Asp2857Glu)
c.6381C>G (p.Asp2127Glu)
c.6057C>G (p.Asp2019Glu)
11g.118504367C>TCA477360278KMT2Ac.8574C>T (p.Asp2858=)
c.8565C>T (p.Asp2855=)
c.2514C>T (p.Asp838=)
c.2772C>T (p.Asp924=)
c.8547C>T (p.Asp2849=)
c.8466C>T (p.Asp2822=)
n.7817C>T
c.8475C>T (p.Asp2825=)
c.8352C>T (p.Asp2784=)
c.5958C>T (p.Asp1986=)
c.8571C>T (p.Asp2857=)
c.6381C>T (p.Asp2127=)
c.6057C>T (p.Asp2019=)
11g.118504368A>CCA382814055KMT2Ac.8575A>C (p.Thr2859Pro)
c.8566A>C (p.Thr2856Pro)
c.2515A>C (p.Thr839Pro)
c.2773A>C (p.Thr925Pro)
c.8548A>C (p.Thr2850Pro)
c.8467A>C (p.Thr2823Pro)
n.7818A>C
c.8476A>C (p.Thr2826Pro)
c.8353A>C (p.Thr2785Pro)
c.5959A>C (p.Thr1987Pro)
c.8572A>C (p.Thr2858Pro)
c.6382A>C (p.Thr2128Pro)
c.6058A>C (p.Thr2020Pro)
11g.118504368A>GCA382814058KMT2Ac.8575A>G (p.Thr2859Ala)
c.8566A>G (p.Thr2856Ala)
c.2515A>G (p.Thr839Ala)
c.2773A>G (p.Thr925Ala)
c.8548A>G (p.Thr2850Ala)
c.8467A>G (p.Thr2823Ala)
n.7818A>G
c.8476A>G (p.Thr2826Ala)
c.8353A>G (p.Thr2785Ala)
c.5959A>G (p.Thr1987Ala)
c.8572A>G (p.Thr2858Ala)
c.6382A>G (p.Thr2128Ala)
c.6058A>G (p.Thr2020Ala)
11g.118504368A>TCA382814062KMT2Ac.8575A>T (p.Thr2859Ser)
c.8566A>T (p.Thr2856Ser)
c.2515A>T (p.Thr839Ser)
c.2773A>T (p.Thr925Ser)
c.8548A>T (p.Thr2850Ser)
c.8467A>T (p.Thr2823Ser)
n.7818A>T
c.8476A>T (p.Thr2826Ser)
c.8353A>T (p.Thr2785Ser)
c.5959A>T (p.Thr1987Ser)
c.8572A>T (p.Thr2858Ser)
c.6382A>T (p.Thr2128Ser)
c.6058A>T (p.Thr2020Ser)
11g.118504369C>ACA382814067KMT2Ac.8576C>A (p.Thr2859Asn)
c.8567C>A (p.Thr2856Asn)
c.2516C>A (p.Thr839Asn)
c.2774C>A (p.Thr925Asn)
c.8549C>A (p.Thr2850Asn)
c.8468C>A (p.Thr2823Asn)
n.7819C>A
c.8477C>A (p.Thr2826Asn)
c.8354C>A (p.Thr2785Asn)
c.5960C>A (p.Thr1987Asn)
c.8573C>A (p.Thr2858Asn)
c.6383C>A (p.Thr2128Asn)
c.6059C>A (p.Thr2020Asn)
11g.118504369C=CA2003528872KMT2Ac.8576C= (p.Thr2859=)
c.8567C= (p.Thr2856=)
c.2516C= (p.Thr839=)
c.2774C= (p.Thr925=)
c.8549C= (p.Thr2850=)
c.8468C= (p.Thr2823=)
n.7819C=
c.8477C= (p.Thr2826=)
c.8354C= (p.Thr2785=)
c.5960C= (p.Thr1987=)
c.8573C= (p.Thr2858=)
c.6383C= (p.Thr2128=)
c.6059C= (p.Thr2020=)
11g.118504369C>GCA382814070KMT2Ac.8576C>G (p.Thr2859Ser)
c.8567C>G (p.Thr2856Ser)
c.2516C>G (p.Thr839Ser)
c.2774C>G (p.Thr925Ser)
c.8549C>G (p.Thr2850Ser)
c.8468C>G (p.Thr2823Ser)
n.7819C>G
c.8477C>G (p.Thr2826Ser)
c.8354C>G (p.Thr2785Ser)
c.5960C>G (p.Thr1987Ser)
c.8573C>G (p.Thr2858Ser)
c.6383C>G (p.Thr2128Ser)
c.6059C>G (p.Thr2020Ser)
dbSNP gnomAD v4
11g.118504369C>TCA382814074KMT2Ac.8576C>T (p.Thr2859Ile)
c.8567C>T (p.Thr2856Ile)
c.2516C>T (p.Thr839Ile)
c.2774C>T (p.Thr925Ile)
c.8549C>T (p.Thr2850Ile)
c.8468C>T (p.Thr2823Ile)
n.7819C>T
c.8477C>T (p.Thr2826Ile)
c.8354C>T (p.Thr2785Ile)
c.5960C>T (p.Thr1987Ile)
c.8573C>T (p.Thr2858Ile)
c.6383C>T (p.Thr2128Ile)
c.6059C>T (p.Thr2020Ile)
11g.118504370C>ACA477360286KMT2Ac.8577C>A (p.Thr2859=)
c.8568C>A (p.Thr2856=)
c.2517C>A (p.Thr839=)
c.2775C>A (p.Thr925=)
c.8550C>A (p.Thr2850=)
c.8469C>A (p.Thr2823=)
n.7820C>A
c.8478C>A (p.Thr2826=)
c.8355C>A (p.Thr2785=)
c.5961C>A (p.Thr1987=)
c.8574C>A (p.Thr2858=)
c.6384C>A (p.Thr2128=)
c.6060C>A (p.Thr2020=)
11g.118504370C=CA2003528875KMT2Ac.8577C= (p.Thr2859=)
c.8568C= (p.Thr2856=)
c.2517C= (p.Thr839=)
c.2775C= (p.Thr925=)
c.8550C= (p.Thr2850=)
c.8469C= (p.Thr2823=)
n.7820C=
c.8478C= (p.Thr2826=)
c.8355C= (p.Thr2785=)
c.5961C= (p.Thr1987=)
c.8574C= (p.Thr2858=)
c.6384C= (p.Thr2128=)
c.6060C= (p.Thr2020=)
11g.118504370C>GCA229528986KMT2Ac.8577C>G (p.Thr2859=)
c.8568C>G (p.Thr2856=)
c.2517C>G (p.Thr839=)
c.2775C>G (p.Thr925=)
c.8550C>G (p.Thr2850=)
c.8469C>G (p.Thr2823=)
n.7820C>G
c.8478C>G (p.Thr2826=)
c.8355C>G (p.Thr2785=)
c.5961C>G (p.Thr1987=)
c.8574C>G (p.Thr2858=)
c.6384C>G (p.Thr2128=)
c.6060C>G (p.Thr2020=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118504370C>TCA477360293KMT2Ac.8577C>T (p.Thr2859=)
c.8568C>T (p.Thr2856=)
c.2517C>T (p.Thr839=)
c.2775C>T (p.Thr925=)
c.8550C>T (p.Thr2850=)
c.8469C>T (p.Thr2823=)
n.7820C>T
c.8478C>T (p.Thr2826=)
c.8355C>T (p.Thr2785=)
c.5961C>T (p.Thr1987=)
c.8574C>T (p.Thr2858=)
c.6384C>T (p.Thr2128=)
c.6060C>T (p.Thr2020=)
11g.118504371T>ACA382814085KMT2Ac.8578T>A (p.Tyr2860Asn)
c.8569T>A (p.Tyr2857Asn)
c.2518T>A (p.Tyr840Asn)
c.2776T>A (p.Tyr926Asn)
c.8551T>A (p.Tyr2851Asn)
c.8470T>A (p.Tyr2824Asn)
n.7821T>A
c.8479T>A (p.Tyr2827Asn)
c.8356T>A (p.Tyr2786Asn)
c.5962T>A (p.Tyr1988Asn)
c.8575T>A (p.Tyr2859Asn)
c.6385T>A (p.Tyr2129Asn)
c.6061T>A (p.Tyr2021Asn)
11g.118504371T>CCA382814088KMT2Ac.8578T>C (p.Tyr2860His)
c.8569T>C (p.Tyr2857His)
c.2518T>C (p.Tyr840His)
c.2776T>C (p.Tyr926His)
c.8551T>C (p.Tyr2851His)
c.8470T>C (p.Tyr2824His)
n.7821T>C
c.8479T>C (p.Tyr2827His)
c.8356T>C (p.Tyr2786His)
c.5962T>C (p.Tyr1988His)
c.8575T>C (p.Tyr2859His)
c.6385T>C (p.Tyr2129His)
c.6061T>C (p.Tyr2021His)
11g.118504371T>GCA382814092KMT2Ac.8578T>G (p.Tyr2860Asp)
c.8569T>G (p.Tyr2857Asp)
c.2518T>G (p.Tyr840Asp)
c.2776T>G (p.Tyr926Asp)
c.8551T>G (p.Tyr2851Asp)
c.8470T>G (p.Tyr2824Asp)
n.7821T>G
c.8479T>G (p.Tyr2827Asp)
c.8356T>G (p.Tyr2786Asp)
c.5962T>G (p.Tyr1988Asp)
c.8575T>G (p.Tyr2859Asp)
c.6385T>G (p.Tyr2129Asp)
c.6061T>G (p.Tyr2021Asp)
11g.118504372A>CCA382814102KMT2Ac.8579A>C (p.Tyr2860Ser)
c.8570A>C (p.Tyr2857Ser)
c.2519A>C (p.Tyr840Ser)
c.2777A>C (p.Tyr926Ser)
c.8552A>C (p.Tyr2851Ser)
c.8471A>C (p.Tyr2824Ser)
n.7822A>C
c.8480A>C (p.Tyr2827Ser)
c.8357A>C (p.Tyr2786Ser)
c.5963A>C (p.Tyr1988Ser)
c.8576A>C (p.Tyr2859Ser)
c.6386A>C (p.Tyr2129Ser)
c.6062A>C (p.Tyr2021Ser)
11g.118504372A>GCA382814100KMT2Ac.8579A>G (p.Tyr2860Cys)
c.8570A>G (p.Tyr2857Cys)
c.2519A>G (p.Tyr840Cys)
c.2777A>G (p.Tyr926Cys)
c.8552A>G (p.Tyr2851Cys)
c.8471A>G (p.Tyr2824Cys)
n.7822A>G
c.8480A>G (p.Tyr2827Cys)
c.8357A>G (p.Tyr2786Cys)
c.5963A>G (p.Tyr1988Cys)
c.8576A>G (p.Tyr2859Cys)
c.6386A>G (p.Tyr2129Cys)
c.6062A>G (p.Tyr2021Cys)
11g.118504372A>TCA382814098KMT2Ac.8579A>T (p.Tyr2860Phe)
c.8570A>T (p.Tyr2857Phe)
c.2519A>T (p.Tyr840Phe)
c.2777A>T (p.Tyr926Phe)
c.8552A>T (p.Tyr2851Phe)
c.8471A>T (p.Tyr2824Phe)
n.7822A>T
c.8480A>T (p.Tyr2827Phe)
c.8357A>T (p.Tyr2786Phe)
c.5963A>T (p.Tyr1988Phe)
c.8576A>T (p.Tyr2859Phe)
c.6386A>T (p.Tyr2129Phe)
c.6062A>T (p.Tyr2021Phe)
11g.118504373T>ACA382814106KMT2Ac.8580T>A (p.Tyr2860Ter)
c.8571T>A (p.Tyr2857Ter)
c.2520T>A (p.Tyr840Ter)
c.2778T>A (p.Tyr926Ter)
c.8553T>A (p.Tyr2851Ter)
c.8472T>A (p.Tyr2824Ter)
n.7823T>A
c.8481T>A (p.Tyr2827Ter)
c.8358T>A (p.Tyr2786Ter)
c.5964T>A (p.Tyr1988Ter)
c.8577T>A (p.Tyr2859Ter)
c.6387T>A (p.Tyr2129Ter)
c.6063T>A (p.Tyr2021Ter)
11g.118504373T>CCA229528989KMT2Ac.8580T>C (p.Tyr2860=)
c.8571T>C (p.Tyr2857=)
c.2520T>C (p.Tyr840=)
c.2778T>C (p.Tyr926=)
c.8553T>C (p.Tyr2851=)
c.8472T>C (p.Tyr2824=)
n.7823T>C
c.8481T>C (p.Tyr2827=)
c.8358T>C (p.Tyr2786=)
c.5964T>C (p.Tyr1988=)
c.8577T>C (p.Tyr2859=)
c.6387T>C (p.Tyr2129=)
c.6063T>C (p.Tyr2021=)
dbSNP gnomAD v4
11g.118504373T>GCA382814116KMT2Ac.8580T>G (p.Tyr2860Ter)
c.8571T>G (p.Tyr2857Ter)
c.2520T>G (p.Tyr840Ter)
c.2778T>G (p.Tyr926Ter)
c.8553T>G (p.Tyr2851Ter)
c.8472T>G (p.Tyr2824Ter)
n.7823T>G
c.8481T>G (p.Tyr2827Ter)
c.8358T>G (p.Tyr2786Ter)
c.5964T>G (p.Tyr1988Ter)
c.8577T>G (p.Tyr2859Ter)
c.6387T>G (p.Tyr2129Ter)
c.6063T>G (p.Tyr2021Ter)
11g.118504373T=CA2003528877KMT2Ac.8580T= (p.Tyr2860=)
c.8571T= (p.Tyr2857=)
c.2520T= (p.Tyr840=)
c.2778T= (p.Tyr926=)
c.8553T= (p.Tyr2851=)
c.8472T= (p.Tyr2824=)
n.7823T=
c.8481T= (p.Tyr2827=)
c.8358T= (p.Tyr2786=)
c.5964T= (p.Tyr1988=)
c.8577T= (p.Tyr2859=)
c.6387T= (p.Tyr2129=)
c.6063T= (p.Tyr2021=)
11g.118504374A>CCA382814117KMT2Ac.8581A>C (p.Asn2861His)
c.8572A>C (p.Asn2858His)
c.2521A>C (p.Asn841His)
c.2779A>C (p.Asn927His)
c.8554A>C (p.Asn2852His)
c.8473A>C (p.Asn2825His)
n.7824A>C
c.8482A>C (p.Asn2828His)
c.8359A>C (p.Asn2787His)
c.5965A>C (p.Asn1989His)
c.8578A>C (p.Asn2860His)
c.6388A>C (p.Asn2130His)
c.6064A>C (p.Asn2022His)
ClinVar gnomAD v4
11g.118504374A>GCA382814119KMT2Ac.8581A>G (p.Asn2861Asp)
c.8572A>G (p.Asn2858Asp)
c.2521A>G (p.Asn841Asp)
c.2779A>G (p.Asn927Asp)
c.8554A>G (p.Asn2852Asp)
c.8473A>G (p.Asn2825Asp)
n.7824A>G
c.8482A>G (p.Asn2828Asp)
c.8359A>G (p.Asn2787Asp)
c.5965A>G (p.Asn1989Asp)
c.8578A>G (p.Asn2860Asp)
c.6388A>G (p.Asn2130Asp)
c.6064A>G (p.Asn2022Asp)
dbSNP gnomAD v3
11g.118504374A>TCA382814122KMT2Ac.8581A>T (p.Asn2861Tyr)
c.8572A>T (p.Asn2858Tyr)
c.2521A>T (p.Asn841Tyr)
c.2779A>T (p.Asn927Tyr)
c.8554A>T (p.Asn2852Tyr)
c.8473A>T (p.Asn2825Tyr)
n.7824A>T
c.8482A>T (p.Asn2828Tyr)
c.8359A>T (p.Asn2787Tyr)
c.5965A>T (p.Asn1989Tyr)
c.8578A>T (p.Asn2860Tyr)
c.6388A>T (p.Asn2130Tyr)
c.6064A>T (p.Asn2022Tyr)
11g.118504375A>CCA382814124KMT2Ac.8582A>C (p.Asn2861Thr)
c.8573A>C (p.Asn2858Thr)
c.2522A>C (p.Asn841Thr)
c.2780A>C (p.Asn927Thr)
c.8555A>C (p.Asn2852Thr)
c.8474A>C (p.Asn2825Thr)
n.7825A>C
c.8483A>C (p.Asn2828Thr)
c.8360A>C (p.Asn2787Thr)
c.5966A>C (p.Asn1989Thr)
c.8579A>C (p.Asn2860Thr)
c.6389A>C (p.Asn2130Thr)
c.6065A>C (p.Asn2022Thr)
11g.118504375A>GCA382814126KMT2Ac.8582A>G (p.Asn2861Ser)
c.8573A>G (p.Asn2858Ser)
c.2522A>G (p.Asn841Ser)
c.2780A>G (p.Asn927Ser)
c.8555A>G (p.Asn2852Ser)
c.8474A>G (p.Asn2825Ser)
n.7825A>G
c.8483A>G (p.Asn2828Ser)
c.8360A>G (p.Asn2787Ser)
c.5966A>G (p.Asn1989Ser)
c.8579A>G (p.Asn2860Ser)
c.6389A>G (p.Asn2130Ser)
c.6065A>G (p.Asn2022Ser)
11g.118504375A>TCA382814129KMT2Ac.8582A>T (p.Asn2861Ile)
c.8573A>T (p.Asn2858Ile)
c.2522A>T (p.Asn841Ile)
c.2780A>T (p.Asn927Ile)
c.8555A>T (p.Asn2852Ile)
c.8474A>T (p.Asn2825Ile)
n.7825A>T
c.8483A>T (p.Asn2828Ile)
c.8360A>T (p.Asn2787Ile)
c.5966A>T (p.Asn1989Ile)
c.8579A>T (p.Asn2860Ile)
c.6389A>T (p.Asn2130Ile)
c.6065A>T (p.Asn2022Ile)
11g.118504376T>ACA382814131KMT2Ac.8583T>A (p.Asn2861Lys)
c.8574T>A (p.Asn2858Lys)
c.2523T>A (p.Asn841Lys)
c.2781T>A (p.Asn927Lys)
c.8556T>A (p.Asn2852Lys)
c.8475T>A (p.Asn2825Lys)
n.7826T>A
c.8484T>A (p.Asn2828Lys)
c.8361T>A (p.Asn2787Lys)
c.5967T>A (p.Asn1989Lys)
c.8580T>A (p.Asn2860Lys)
c.6390T>A (p.Asn2130Lys)
c.6066T>A (p.Asn2022Lys)
11g.118504376T>CCA477360305KMT2Ac.8583T>C (p.Asn2861=)
c.8574T>C (p.Asn2858=)
c.2523T>C (p.Asn841=)
c.2781T>C (p.Asn927=)
c.8556T>C (p.Asn2852=)
c.8475T>C (p.Asn2825=)
n.7826T>C
c.8484T>C (p.Asn2828=)
c.8361T>C (p.Asn2787=)
c.5967T>C (p.Asn1989=)
c.8580T>C (p.Asn2860=)
c.6390T>C (p.Asn2130=)
c.6066T>C (p.Asn2022=)
11g.118504376T>GCA382814134KMT2Ac.8583T>G (p.Asn2861Lys)
c.8574T>G (p.Asn2858Lys)
c.2523T>G (p.Asn841Lys)
c.2781T>G (p.Asn927Lys)
c.8556T>G (p.Asn2852Lys)
c.8475T>G (p.Asn2825Lys)
n.7826T>G
c.8484T>G (p.Asn2828Lys)
c.8361T>G (p.Asn2787Lys)
c.5967T>G (p.Asn1989Lys)
c.8580T>G (p.Asn2860Lys)
c.6390T>G (p.Asn2130Lys)
c.6066T>G (p.Asn2022Lys)
11g.118504377A>CCA382814139KMT2Ac.8584A>C (p.Thr2862Pro)
c.8575A>C (p.Thr2859Pro)
c.2524A>C (p.Thr842Pro)
c.2782A>C (p.Thr928Pro)
c.8557A>C (p.Thr2853Pro)
c.8476A>C (p.Thr2826Pro)
n.7827A>C
c.8485A>C (p.Thr2829Pro)
c.8362A>C (p.Thr2788Pro)
c.5968A>C (p.Thr1990Pro)
c.8581A>C (p.Thr2861Pro)
c.6391A>C (p.Thr2131Pro)
c.6067A>C (p.Thr2023Pro)
11g.118504377A>GCA382814143KMT2Ac.8584A>G (p.Thr2862Ala)
c.8575A>G (p.Thr2859Ala)
c.2524A>G (p.Thr842Ala)
c.2782A>G (p.Thr928Ala)
c.8557A>G (p.Thr2853Ala)
c.8476A>G (p.Thr2826Ala)
n.7827A>G
c.8485A>G (p.Thr2829Ala)
c.8362A>G (p.Thr2788Ala)
c.5968A>G (p.Thr1990Ala)
c.8581A>G (p.Thr2861Ala)
c.6391A>G (p.Thr2131Ala)
c.6067A>G (p.Thr2023Ala)
11g.118504377A>TCA382814146KMT2Ac.8584A>T (p.Thr2862Ser)
c.8575A>T (p.Thr2859Ser)
c.2524A>T (p.Thr842Ser)
c.2782A>T (p.Thr928Ser)
c.8557A>T (p.Thr2853Ser)
c.8476A>T (p.Thr2826Ser)
n.7827A>T
c.8485A>T (p.Thr2829Ser)
c.8362A>T (p.Thr2788Ser)
c.5968A>T (p.Thr1990Ser)
c.8581A>T (p.Thr2861Ser)
c.6391A>T (p.Thr2131Ser)
c.6067A>T (p.Thr2023Ser)
11g.118504378C>ACA382814153KMT2Ac.8585C>A (p.Thr2862Asn)
c.8576C>A (p.Thr2859Asn)
c.2525C>A (p.Thr842Asn)
c.2783C>A (p.Thr928Asn)
c.8558C>A (p.Thr2853Asn)
c.8477C>A (p.Thr2826Asn)
n.7828C>A
c.8486C>A (p.Thr2829Asn)
c.8363C>A (p.Thr2788Asn)
c.5969C>A (p.Thr1990Asn)
c.8582C>A (p.Thr2861Asn)
c.6392C>A (p.Thr2131Asn)
c.6068C>A (p.Thr2023Asn)
11g.118504378C>GCA382814157KMT2Ac.8585C>G (p.Thr2862Ser)
c.8576C>G (p.Thr2859Ser)
c.2525C>G (p.Thr842Ser)
c.2783C>G (p.Thr928Ser)
c.8558C>G (p.Thr2853Ser)
c.8477C>G (p.Thr2826Ser)
n.7828C>G
c.8486C>G (p.Thr2829Ser)
c.8363C>G (p.Thr2788Ser)
c.5969C>G (p.Thr1990Ser)
c.8582C>G (p.Thr2861Ser)
c.6392C>G (p.Thr2131Ser)
c.6068C>G (p.Thr2023Ser)
11g.118504378C>TCA382814150KMT2Ac.8585C>T (p.Thr2862Ile)
c.8576C>T (p.Thr2859Ile)
c.2525C>T (p.Thr842Ile)
c.2783C>T (p.Thr928Ile)
c.8558C>T (p.Thr2853Ile)
c.8477C>T (p.Thr2826Ile)
n.7828C>T
c.8486C>T (p.Thr2829Ile)
c.8363C>T (p.Thr2788Ile)
c.5969C>T (p.Thr1990Ile)
c.8582C>T (p.Thr2861Ile)
c.6392C>T (p.Thr2131Ile)
c.6068C>T (p.Thr2023Ile)
11g.118504379T>ACA477360314KMT2Ac.8586T>A (p.Thr2862=)
c.8577T>A (p.Thr2859=)
c.2526T>A (p.Thr842=)
c.2784T>A (p.Thr928=)
c.8559T>A (p.Thr2853=)
c.8478T>A (p.Thr2826=)
n.7829T>A
c.8487T>A (p.Thr2829=)
c.8364T>A (p.Thr2788=)
c.5970T>A (p.Thr1990=)
c.8583T>A (p.Thr2861=)
c.6393T>A (p.Thr2131=)
c.6069T>A (p.Thr2023=)
11g.118504379T>CCA477360318KMT2Ac.8586T>C (p.Thr2862=)
c.8577T>C (p.Thr2859=)
c.2526T>C (p.Thr842=)
c.2784T>C (p.Thr928=)
c.8559T>C (p.Thr2853=)
c.8478T>C (p.Thr2826=)
n.7829T>C
c.8487T>C (p.Thr2829=)
c.8364T>C (p.Thr2788=)
c.5970T>C (p.Thr1990=)
c.8583T>C (p.Thr2861=)
c.6393T>C (p.Thr2131=)
c.6069T>C (p.Thr2023=)
11g.118504379T>GCA477360316KMT2Ac.8586T>G (p.Thr2862=)
c.8577T>G (p.Thr2859=)
c.2526T>G (p.Thr842=)
c.2784T>G (p.Thr928=)
c.8559T>G (p.Thr2853=)
c.8478T>G (p.Thr2826=)
n.7829T>G
c.8487T>G (p.Thr2829=)
c.8364T>G (p.Thr2788=)
c.5970T>G (p.Thr1990=)
c.8583T>G (p.Thr2861=)
c.6393T>G (p.Thr2131=)
c.6069T>G (p.Thr2023=)
11g.118504380G>ACA382814162KMT2Ac.8587G>A (p.Glu2863Lys)
c.8578G>A (p.Glu2860Lys)
c.2527G>A (p.Glu843Lys)
c.2785G>A (p.Glu929Lys)
c.8560G>A (p.Glu2854Lys)
c.8479G>A (p.Glu2827Lys)
n.7830G>A
c.8488G>A (p.Glu2830Lys)
c.8365G>A (p.Glu2789Lys)
c.5971G>A (p.Glu1991Lys)
c.8584G>A (p.Glu2862Lys)
c.6394G>A (p.Glu2132Lys)
c.6070G>A (p.Glu2024Lys)
11g.118504380G>CCA382814161KMT2Ac.8587G>C (p.Glu2863Gln)
c.8578G>C (p.Glu2860Gln)
c.2527G>C (p.Glu843Gln)
c.2785G>C (p.Glu929Gln)
c.8560G>C (p.Glu2854Gln)
c.8479G>C (p.Glu2827Gln)
n.7830G>C
c.8488G>C (p.Glu2830Gln)
c.8365G>C (p.Glu2789Gln)
c.5971G>C (p.Glu1991Gln)
c.8584G>C (p.Glu2862Gln)
c.6394G>C (p.Glu2132Gln)
c.6070G>C (p.Glu2024Gln)
11g.118504380G>TCA382814165KMT2Ac.8587G>T (p.Glu2863Ter)
c.8578G>T (p.Glu2860Ter)
c.2527G>T (p.Glu843Ter)
c.2785G>T (p.Glu929Ter)
c.8560G>T (p.Glu2854Ter)
c.8479G>T (p.Glu2827Ter)
n.7830G>T
c.8488G>T (p.Glu2830Ter)
c.8365G>T (p.Glu2789Ter)
c.5971G>T (p.Glu1991Ter)
c.8584G>T (p.Glu2862Ter)
c.6394G>T (p.Glu2132Ter)
c.6070G>T (p.Glu2024Ter)
11g.118504381A>CCA382814169KMT2Ac.8588A>C (p.Glu2863Ala)
c.8579A>C (p.Glu2860Ala)
c.2528A>C (p.Glu843Ala)
c.2786A>C (p.Glu929Ala)
c.8561A>C (p.Glu2854Ala)
c.8480A>C (p.Glu2827Ala)
n.7831A>C
c.8489A>C (p.Glu2830Ala)
c.8366A>C (p.Glu2789Ala)
c.5972A>C (p.Glu1991Ala)
c.8585A>C (p.Glu2862Ala)
c.6395A>C (p.Glu2132Ala)
c.6071A>C (p.Glu2024Ala)
11g.118504381A>GCA382814176KMT2Ac.8588A>G (p.Glu2863Gly)
c.8579A>G (p.Glu2860Gly)
c.2528A>G (p.Glu843Gly)
c.2786A>G (p.Glu929Gly)
c.8561A>G (p.Glu2854Gly)
c.8480A>G (p.Glu2827Gly)
n.7831A>G
c.8489A>G (p.Glu2830Gly)
c.8366A>G (p.Glu2789Gly)
c.5972A>G (p.Glu1991Gly)
c.8585A>G (p.Glu2862Gly)
c.6395A>G (p.Glu2132Gly)
c.6071A>G (p.Glu2024Gly)
11g.118504381A>TCA382814171KMT2Ac.8588A>T (p.Glu2863Val)
c.8579A>T (p.Glu2860Val)
c.2528A>T (p.Glu843Val)
c.2786A>T (p.Glu929Val)
c.8561A>T (p.Glu2854Val)
c.8480A>T (p.Glu2827Val)
n.7831A>T
c.8489A>T (p.Glu2830Val)
c.8366A>T (p.Glu2789Val)
c.5972A>T (p.Glu1991Val)
c.8585A>T (p.Glu2862Val)
c.6395A>T (p.Glu2132Val)
c.6071A>T (p.Glu2024Val)
11g.118504382G>ACA477360324KMT2Ac.8589G>A (p.Glu2863=)
c.8580G>A (p.Glu2860=)
c.2529G>A (p.Glu843=)
c.2787G>A (p.Glu929=)
c.8562G>A (p.Glu2854=)
c.8481G>A (p.Glu2827=)
n.7832G>A
c.8490G>A (p.Glu2830=)
c.8367G>A (p.Glu2789=)
c.5973G>A (p.Glu1991=)
c.8586G>A (p.Glu2862=)
c.6396G>A (p.Glu2132=)
c.6072G>A (p.Glu2024=)
dbSNP gnomAD v2 gnomAD v4
11g.118504382G>CCA382814180KMT2Ac.8589G>C (p.Glu2863Asp)
c.8580G>C (p.Glu2860Asp)
c.2529G>C (p.Glu843Asp)
c.2787G>C (p.Glu929Asp)
c.8562G>C (p.Glu2854Asp)
c.8481G>C (p.Glu2827Asp)
n.7832G>C
c.8490G>C (p.Glu2830Asp)
c.8367G>C (p.Glu2789Asp)
c.5973G>C (p.Glu1991Asp)
c.8586G>C (p.Glu2862Asp)
c.6396G>C (p.Glu2132Asp)
c.6072G>C (p.Glu2024Asp)
11g.118504382G=CA2003528881KMT2Ac.8589G= (p.Glu2863=)
c.8580G= (p.Glu2860=)
c.2529G= (p.Glu843=)
c.2787G= (p.Glu929=)
c.8562G= (p.Glu2854=)
c.8481G= (p.Glu2827=)
n.7832G=
c.8490G= (p.Glu2830=)
c.8367G= (p.Glu2789=)
c.5973G= (p.Glu1991=)
c.8586G= (p.Glu2862=)
c.6396G= (p.Glu2132=)
c.6072G= (p.Glu2024=)
11g.118504382G>TCA382814183KMT2Ac.8589G>T (p.Glu2863Asp)
c.8580G>T (p.Glu2860Asp)
c.2529G>T (p.Glu843Asp)
c.2787G>T (p.Glu929Asp)
c.8562G>T (p.Glu2854Asp)
c.8481G>T (p.Glu2827Asp)
n.7832G>T
c.8490G>T (p.Glu2830Asp)
c.8367G>T (p.Glu2789Asp)
c.5973G>T (p.Glu1991Asp)
c.8586G>T (p.Glu2862Asp)
c.6396G>T (p.Glu2132Asp)
c.6072G>T (p.Glu2024Asp)
11g.118504383C>ACA382814188KMT2Ac.8590C>A (p.Leu2864Ile)
c.8581C>A (p.Leu2861Ile)
c.2530C>A (p.Leu844Ile)
c.2788C>A (p.Leu930Ile)
c.8563C>A (p.Leu2855Ile)
c.8482C>A (p.Leu2828Ile)
n.7833C>A
c.8491C>A (p.Leu2831Ile)
c.8368C>A (p.Leu2790Ile)
c.5974C>A (p.Leu1992Ile)
c.8587C>A (p.Leu2863Ile)
c.6397C>A (p.Leu2133Ile)
c.6073C>A (p.Leu2025Ile)
dbSNP
11g.118504383C=CA2003528885KMT2Ac.8590C= (p.Leu2864=)
c.8581C= (p.Leu2861=)
c.2530C= (p.Leu844=)
c.2788C= (p.Leu930=)
c.8563C= (p.Leu2855=)
c.8482C= (p.Leu2828=)
n.7833C=
c.8491C= (p.Leu2831=)
c.8368C= (p.Leu2790=)
c.5974C= (p.Leu1992=)
c.8587C= (p.Leu2863=)
c.6397C= (p.Leu2133=)
c.6073C= (p.Leu2025=)
11g.118504383C>GCA382814191KMT2Ac.8590C>G (p.Leu2864Val)
c.8581C>G (p.Leu2861Val)
c.2530C>G (p.Leu844Val)
c.2788C>G (p.Leu930Val)
c.8563C>G (p.Leu2855Val)
c.8482C>G (p.Leu2828Val)
n.7833C>G
c.8491C>G (p.Leu2831Val)
c.8368C>G (p.Leu2790Val)
c.5974C>G (p.Leu1992Val)
c.8587C>G (p.Leu2863Val)
c.6397C>G (p.Leu2133Val)
c.6073C>G (p.Leu2025Val)
ClinVar dbSNP
11g.118504383C>TCA382814193KMT2Ac.8590C>T (p.Leu2864Phe)
c.8581C>T (p.Leu2861Phe)
c.2530C>T (p.Leu844Phe)
c.2788C>T (p.Leu930Phe)
c.8563C>T (p.Leu2855Phe)
c.8482C>T (p.Leu2828Phe)
n.7833C>T
c.8491C>T (p.Leu2831Phe)
c.8368C>T (p.Leu2790Phe)
c.5974C>T (p.Leu1992Phe)
c.8587C>T (p.Leu2863Phe)
c.6397C>T (p.Leu2133Phe)
c.6073C>T (p.Leu2025Phe)
11g.118504384T>ACA382814198KMT2Ac.8591T>A (p.Leu2864His)
c.8582T>A (p.Leu2861His)
c.2531T>A (p.Leu844His)
c.2789T>A (p.Leu930His)
c.8564T>A (p.Leu2855His)
c.8483T>A (p.Leu2828His)
n.7834T>A
c.8492T>A (p.Leu2831His)
c.8369T>A (p.Leu2790His)
c.5975T>A (p.Leu1992His)
c.8588T>A (p.Leu2863His)
c.6398T>A (p.Leu2133His)
c.6074T>A (p.Leu2025His)
gnomAD v4
11g.118504384T>CCA382814202KMT2Ac.8591T>C (p.Leu2864Pro)
c.8582T>C (p.Leu2861Pro)
c.2531T>C (p.Leu844Pro)
c.2789T>C (p.Leu930Pro)
c.8564T>C (p.Leu2855Pro)
c.8483T>C (p.Leu2828Pro)
n.7834T>C
c.8492T>C (p.Leu2831Pro)
c.8369T>C (p.Leu2790Pro)
c.5975T>C (p.Leu1992Pro)
c.8588T>C (p.Leu2863Pro)
c.6398T>C (p.Leu2133Pro)
c.6074T>C (p.Leu2025Pro)
dbSNP
11g.118504384T>GCA382814204KMT2Ac.8591T>G (p.Leu2864Arg)
c.8582T>G (p.Leu2861Arg)
c.2531T>G (p.Leu844Arg)
c.2789T>G (p.Leu930Arg)
c.8564T>G (p.Leu2855Arg)
c.8483T>G (p.Leu2828Arg)
n.7834T>G
c.8492T>G (p.Leu2831Arg)
c.8369T>G (p.Leu2790Arg)
c.5975T>G (p.Leu1992Arg)
c.8588T>G (p.Leu2863Arg)
c.6398T>G (p.Leu2133Arg)
c.6074T>G (p.Leu2025Arg)
11g.118504384T=CA2003528887KMT2Ac.8591T= (p.Leu2864=)
c.8582T= (p.Leu2861=)
c.2531T= (p.Leu844=)
c.2789T= (p.Leu930=)
c.8564T= (p.Leu2855=)
c.8483T= (p.Leu2828=)
n.7834T=
c.8492T= (p.Leu2831=)
c.8369T= (p.Leu2790=)
c.5975T= (p.Leu1992=)
c.8588T= (p.Leu2863=)
c.6398T= (p.Leu2133=)
c.6074T= (p.Leu2025=)
11g.118504385C>ACA477360343KMT2Ac.8592C>A (p.Leu2864=)
c.8583C>A (p.Leu2861=)
c.2532C>A (p.Leu844=)
c.2790C>A (p.Leu930=)
c.8565C>A (p.Leu2855=)
c.8484C>A (p.Leu2828=)
n.7835C>A
c.8493C>A (p.Leu2831=)
c.8370C>A (p.Leu2790=)
c.5976C>A (p.Leu1992=)
c.8589C>A (p.Leu2863=)
c.6399C>A (p.Leu2133=)
c.6075C>A (p.Leu2025=)
11g.118504385C=CA2003528888KMT2Ac.8592C= (p.Leu2864=)
c.8583C= (p.Leu2861=)
c.2532C= (p.Leu844=)
c.2790C= (p.Leu930=)
c.8565C= (p.Leu2855=)
c.8484C= (p.Leu2828=)
n.7835C=
c.8493C= (p.Leu2831=)
c.8370C= (p.Leu2790=)
c.5976C= (p.Leu1992=)
c.8589C= (p.Leu2863=)
c.6399C= (p.Leu2133=)
c.6075C= (p.Leu2025=)
11g.118504385C>GCA477360345KMT2Ac.8592C>G (p.Leu2864=)
c.8583C>G (p.Leu2861=)
c.2532C>G (p.Leu844=)
c.2790C>G (p.Leu930=)
c.8565C>G (p.Leu2855=)
c.8484C>G (p.Leu2828=)
n.7835C>G
c.8493C>G (p.Leu2831=)
c.8370C>G (p.Leu2790=)
c.5976C>G (p.Leu1992=)
c.8589C>G (p.Leu2863=)
c.6399C>G (p.Leu2133=)
c.6075C>G (p.Leu2025=)
dbSNP
11g.118504385C>TCA229528999KMT2Ac.8592C>T (p.Leu2864=)
c.8583C>T (p.Leu2861=)
c.2532C>T (p.Leu844=)
c.2790C>T (p.Leu930=)
c.8565C>T (p.Leu2855=)
c.8484C>T (p.Leu2828=)
n.7835C>T
c.8493C>T (p.Leu2831=)
c.8370C>T (p.Leu2790=)
c.5976C>T (p.Leu1992=)
c.8589C>T (p.Leu2863=)
c.6399C>T (p.Leu2133=)
c.6075C>T (p.Leu2025=)
dbSNP
11g.118504386C>ACA382814208KMT2Ac.8593C>A (p.Leu2865Met)
c.8584C>A (p.Leu2862Met)
c.2533C>A (p.Leu845Met)
c.2791C>A (p.Leu931Met)
c.8566C>A (p.Leu2856Met)
c.8485C>A (p.Leu2829Met)
n.7836C>A
c.8494C>A (p.Leu2832Met)
c.8371C>A (p.Leu2791Met)
c.5977C>A (p.Leu1993Met)
c.8590C>A (p.Leu2864Met)
c.6400C>A (p.Leu2134Met)
c.6076C>A (p.Leu2026Met)
11g.118504386C>GCA382814211KMT2Ac.8593C>G (p.Leu2865Val)
c.8584C>G (p.Leu2862Val)
c.2533C>G (p.Leu845Val)
c.2791C>G (p.Leu931Val)
c.8566C>G (p.Leu2856Val)
c.8485C>G (p.Leu2829Val)
n.7836C>G
c.8494C>G (p.Leu2832Val)
c.8371C>G (p.Leu2791Val)
c.5977C>G (p.Leu1993Val)
c.8590C>G (p.Leu2864Val)
c.6400C>G (p.Leu2134Val)
c.6076C>G (p.Leu2026Val)
11g.118504386C>TCA477360350KMT2Ac.8593C>T (p.Leu2865=)
c.8584C>T (p.Leu2862=)
c.2533C>T (p.Leu845=)
c.2791C>T (p.Leu931=)
c.8566C>T (p.Leu2856=)
c.8485C>T (p.Leu2829=)
n.7836C>T
c.8494C>T (p.Leu2832=)
c.8371C>T (p.Leu2791=)
c.5977C>T (p.Leu1993=)
c.8590C>T (p.Leu2864=)
c.6400C>T (p.Leu2134=)
c.6076C>T (p.Leu2026=)
gnomAD v4 COSMIC COSMIC
11g.118504387T>ACA382814215KMT2Ac.8594T>A (p.Leu2865Gln)
c.8585T>A (p.Leu2862Gln)
c.2534T>A (p.Leu845Gln)
c.2792T>A (p.Leu931Gln)
c.8567T>A (p.Leu2856Gln)
c.8486T>A (p.Leu2829Gln)
n.7837T>A
c.8495T>A (p.Leu2832Gln)
c.8372T>A (p.Leu2791Gln)
c.5978T>A (p.Leu1993Gln)
c.8591T>A (p.Leu2864Gln)
c.6401T>A (p.Leu2134Gln)
c.6077T>A (p.Leu2026Gln)
11g.118504387T>CCA382814218KMT2Ac.8594T>C (p.Leu2865Pro)
c.8585T>C (p.Leu2862Pro)
c.2534T>C (p.Leu845Pro)
c.2792T>C (p.Leu931Pro)
c.8567T>C (p.Leu2856Pro)
c.8486T>C (p.Leu2829Pro)
n.7837T>C
c.8495T>C (p.Leu2832Pro)
c.8372T>C (p.Leu2791Pro)
c.5978T>C (p.Leu1993Pro)
c.8591T>C (p.Leu2864Pro)
c.6401T>C (p.Leu2134Pro)
c.6077T>C (p.Leu2026Pro)
dbSNP
11g.118504387T>GCA382814220KMT2Ac.8594T>G (p.Leu2865Arg)
c.8585T>G (p.Leu2862Arg)
c.2534T>G (p.Leu845Arg)
c.2792T>G (p.Leu931Arg)
c.8567T>G (p.Leu2856Arg)
c.8486T>G (p.Leu2829Arg)
n.7837T>G
c.8495T>G (p.Leu2832Arg)
c.8372T>G (p.Leu2791Arg)
c.5978T>G (p.Leu1993Arg)
c.8591T>G (p.Leu2864Arg)
c.6401T>G (p.Leu2134Arg)
c.6077T>G (p.Leu2026Arg)
11g.118504388G>ACA477360355KMT2Ac.8595G>A (p.Leu2865=)
c.8586G>A (p.Leu2862=)
c.2535G>A (p.Leu845=)
c.2793G>A (p.Leu931=)
c.8568G>A (p.Leu2856=)
c.8487G>A (p.Leu2829=)
n.7838G>A
c.8496G>A (p.Leu2832=)
c.8373G>A (p.Leu2791=)
c.5979G>A (p.Leu1993=)
c.8592G>A (p.Leu2864=)
c.6402G>A (p.Leu2134=)
c.6078G>A (p.Leu2026=)
11g.118504388G>CCA477360356KMT2Ac.8595G>C (p.Leu2865=)
c.8586G>C (p.Leu2862=)
c.2535G>C (p.Leu845=)
c.2793G>C (p.Leu931=)
c.8568G>C (p.Leu2856=)
c.8487G>C (p.Leu2829=)
n.7838G>C
c.8496G>C (p.Leu2832=)
c.8373G>C (p.Leu2791=)
c.5979G>C (p.Leu1993=)
c.8592G>C (p.Leu2864=)
c.6402G>C (p.Leu2134=)
c.6078G>C (p.Leu2026=)
11g.118504388G>TCA477360357KMT2Ac.8595G>T (p.Leu2865=)
c.8586G>T (p.Leu2862=)
c.2535G>T (p.Leu845=)
c.2793G>T (p.Leu931=)
c.8568G>T (p.Leu2856=)
c.8487G>T (p.Leu2829=)
n.7838G>T
c.8496G>T (p.Leu2832=)
c.8373G>T (p.Leu2791=)
c.5979G>T (p.Leu1993=)
c.8592G>T (p.Leu2864=)
c.6402G>T (p.Leu2134=)
c.6078G>T (p.Leu2026=)
11g.118504389A>CCA382814224KMT2Ac.8596A>C (p.Lys2866Gln)
c.8587A>C (p.Lys2863Gln)
c.2536A>C (p.Lys846Gln)
c.2794A>C (p.Lys932Gln)
c.8569A>C (p.Lys2857Gln)
c.8488A>C (p.Lys2830Gln)
n.7839A>C
c.8497A>C (p.Lys2833Gln)
c.8374A>C (p.Lys2792Gln)
c.5980A>C (p.Lys1994Gln)
c.8593A>C (p.Lys2865Gln)
c.6403A>C (p.Lys2135Gln)
c.6079A>C (p.Lys2027Gln)
11g.118504389A>GCA382814231KMT2Ac.8596A>G (p.Lys2866Glu)
c.8587A>G (p.Lys2863Glu)
c.2536A>G (p.Lys846Glu)
c.2794A>G (p.Lys932Glu)
c.8569A>G (p.Lys2857Glu)
c.8488A>G (p.Lys2830Glu)
n.7839A>G
c.8497A>G (p.Lys2833Glu)
c.8374A>G (p.Lys2792Glu)
c.5980A>G (p.Lys1994Glu)
c.8593A>G (p.Lys2865Glu)
c.6403A>G (p.Lys2135Glu)
c.6079A>G (p.Lys2027Glu)
11g.118504389A>TCA382814228KMT2Ac.8596A>T (p.Lys2866Ter)
c.8587A>T (p.Lys2863Ter)
c.2536A>T (p.Lys846Ter)
c.2794A>T (p.Lys932Ter)
c.8569A>T (p.Lys2857Ter)
c.8488A>T (p.Lys2830Ter)
n.7839A>T
c.8497A>T (p.Lys2833Ter)
c.8374A>T (p.Lys2792Ter)
c.5980A>T (p.Lys1994Ter)
c.8593A>T (p.Lys2865Ter)
c.6403A>T (p.Lys2135Ter)
c.6079A>T (p.Lys2027Ter)
11g.118504390A>CCA382814235KMT2Ac.8597A>C (p.Lys2866Thr)
c.8588A>C (p.Lys2863Thr)
c.2537A>C (p.Lys846Thr)
c.2795A>C (p.Lys932Thr)
c.8570A>C (p.Lys2857Thr)
c.8489A>C (p.Lys2830Thr)
n.7840A>C
c.8498A>C (p.Lys2833Thr)
c.8375A>C (p.Lys2792Thr)
c.5981A>C (p.Lys1994Thr)
c.8594A>C (p.Lys2865Thr)
c.6404A>C (p.Lys2135Thr)
c.6080A>C (p.Lys2027Thr)
11g.118504390A>GCA382814237KMT2Ac.8597A>G (p.Lys2866Arg)
c.8588A>G (p.Lys2863Arg)
c.2537A>G (p.Lys846Arg)
c.2795A>G (p.Lys932Arg)
c.8570A>G (p.Lys2857Arg)
c.8489A>G (p.Lys2830Arg)
n.7840A>G
c.8498A>G (p.Lys2833Arg)
c.8375A>G (p.Lys2792Arg)
c.5981A>G (p.Lys1994Arg)
c.8594A>G (p.Lys2865Arg)
c.6404A>G (p.Lys2135Arg)
c.6080A>G (p.Lys2027Arg)
11g.118504390A>TCA382814248KMT2Ac.8597A>T (p.Lys2866Ile)
c.8588A>T (p.Lys2863Ile)
c.2537A>T (p.Lys846Ile)
c.2795A>T (p.Lys932Ile)
c.8570A>T (p.Lys2857Ile)
c.8489A>T (p.Lys2830Ile)
n.7840A>T
c.8498A>T (p.Lys2833Ile)
c.8375A>T (p.Lys2792Ile)
c.5981A>T (p.Lys1994Ile)
c.8594A>T (p.Lys2865Ile)
c.6404A>T (p.Lys2135Ile)
c.6080A>T (p.Lys2027Ile)
11g.118504391A>CCA382814251KMT2Ac.8598A>C (p.Lys2866Asn)
c.8589A>C (p.Lys2863Asn)
c.2538A>C (p.Lys846Asn)
c.2796A>C (p.Lys932Asn)
c.8571A>C (p.Lys2857Asn)
c.8490A>C (p.Lys2830Asn)
n.7841A>C
c.8499A>C (p.Lys2833Asn)
c.8376A>C (p.Lys2792Asn)
c.5982A>C (p.Lys1994Asn)
c.8595A>C (p.Lys2865Asn)
c.6405A>C (p.Lys2135Asn)
c.6081A>C (p.Lys2027Asn)
11g.118504391A>GCA477360361KMT2Ac.8598A>G (p.Lys2866=)
c.8589A>G (p.Lys2863=)
c.2538A>G (p.Lys846=)
c.2796A>G (p.Lys932=)
c.8571A>G (p.Lys2857=)
c.8490A>G (p.Lys2830=)
n.7841A>G
c.8499A>G (p.Lys2833=)
c.8376A>G (p.Lys2792=)
c.5982A>G (p.Lys1994=)
c.8595A>G (p.Lys2865=)
c.6405A>G (p.Lys2135=)
c.6081A>G (p.Lys2027=)
11g.118504391A>TCA382814253KMT2Ac.8598A>T (p.Lys2866Asn)
c.8589A>T (p.Lys2863Asn)
c.2538A>T (p.Lys846Asn)
c.2796A>T (p.Lys932Asn)
c.8571A>T (p.Lys2857Asn)
c.8490A>T (p.Lys2830Asn)
n.7841A>T
c.8499A>T (p.Lys2833Asn)
c.8376A>T (p.Lys2792Asn)
c.5982A>T (p.Lys1994Asn)
c.8595A>T (p.Lys2865Asn)
c.6405A>T (p.Lys2135Asn)
c.6081A>T (p.Lys2027Asn)
11g.118504392T>ACA382814258KMT2Ac.8599T>A (p.Ser2867Thr)
c.8590T>A (p.Ser2864Thr)
c.2539T>A (p.Ser847Thr)
c.2797T>A (p.Ser933Thr)
c.8572T>A (p.Ser2858Thr)
c.8491T>A (p.Ser2831Thr)
n.7842T>A
c.8500T>A (p.Ser2834Thr)
c.8377T>A (p.Ser2793Thr)
c.5983T>A (p.Ser1995Thr)
c.8596T>A (p.Ser2866Thr)
c.6406T>A (p.Ser2136Thr)
c.6082T>A (p.Ser2028Thr)
11g.118504392T>CCA6304507KMT2Ac.8599T>C (p.Ser2867Pro)
c.8590T>C (p.Ser2864Pro)
c.2539T>C (p.Ser847Pro)
c.2797T>C (p.Ser933Pro)
c.8572T>C (p.Ser2858Pro)
c.8491T>C (p.Ser2831Pro)
n.7842T>C
c.8500T>C (p.Ser2834Pro)
c.8377T>C (p.Ser2793Pro)
c.5983T>C (p.Ser1995Pro)
c.8596T>C (p.Ser2866Pro)
c.6406T>C (p.Ser2136Pro)
c.6082T>C (p.Ser2028Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118504392T>GCA382814267KMT2Ac.8599T>G (p.Ser2867Ala)
c.8590T>G (p.Ser2864Ala)
c.2539T>G (p.Ser847Ala)
c.2797T>G (p.Ser933Ala)
c.8572T>G (p.Ser2858Ala)
c.8491T>G (p.Ser2831Ala)
n.7842T>G
c.8500T>G (p.Ser2834Ala)
c.8377T>G (p.Ser2793Ala)
c.5983T>G (p.Ser1995Ala)
c.8596T>G (p.Ser2866Ala)
c.6406T>G (p.Ser2136Ala)
c.6082T>G (p.Ser2028Ala)
11g.118504392T=CA2003528891KMT2Ac.8599T= (p.Ser2867=)
c.8590T= (p.Ser2864=)
c.2539T= (p.Ser847=)
c.2797T= (p.Ser933=)
c.8572T= (p.Ser2858=)
c.8491T= (p.Ser2831=)
n.7842T=
c.8500T= (p.Ser2834=)
c.8377T= (p.Ser2793=)
c.5983T= (p.Ser1995=)
c.8596T= (p.Ser2866=)
c.6406T= (p.Ser2136=)
c.6082T= (p.Ser2028=)
11g.118504393C>ACA382814271KMT2Ac.8600C>A (p.Ser2867Ter)
c.8591C>A (p.Ser2864Ter)
c.2540C>A (p.Ser847Ter)
c.2798C>A (p.Ser933Ter)
c.8573C>A (p.Ser2858Ter)
c.8492C>A (p.Ser2831Ter)
n.7843C>A
c.8501C>A (p.Ser2834Ter)
c.8378C>A (p.Ser2793Ter)
c.5984C>A (p.Ser1995Ter)
c.8597C>A (p.Ser2866Ter)
c.6407C>A (p.Ser2136Ter)
c.6083C>A (p.Ser2028Ter)
11g.118504393C>GCA382814275KMT2Ac.8600C>G (p.Ser2867Ter)
c.8591C>G (p.Ser2864Ter)
c.2540C>G (p.Ser847Ter)
c.2798C>G (p.Ser933Ter)
c.8573C>G (p.Ser2858Ter)
c.8492C>G (p.Ser2831Ter)
n.7843C>G
c.8501C>G (p.Ser2834Ter)
c.8378C>G (p.Ser2793Ter)
c.5984C>G (p.Ser1995Ter)
c.8597C>G (p.Ser2866Ter)
c.6407C>G (p.Ser2136Ter)
c.6083C>G (p.Ser2028Ter)
11g.118504393C>TCA382814276KMT2Ac.8600C>T (p.Ser2867Leu)
c.8591C>T (p.Ser2864Leu)
c.2540C>T (p.Ser847Leu)
c.2798C>T (p.Ser933Leu)
c.8573C>T (p.Ser2858Leu)
c.8492C>T (p.Ser2831Leu)
n.7843C>T
c.8501C>T (p.Ser2834Leu)
c.8378C>T (p.Ser2793Leu)
c.5984C>T (p.Ser1995Leu)
c.8597C>T (p.Ser2866Leu)
c.6407C>T (p.Ser2136Leu)
c.6083C>T (p.Ser2028Leu)
11g.118504394A>CCA477360368KMT2Ac.8601A>C (p.Ser2867=)
c.8592A>C (p.Ser2864=)
c.2541A>C (p.Ser847=)
c.2799A>C (p.Ser933=)
c.8574A>C (p.Ser2858=)
c.8493A>C (p.Ser2831=)
n.7844A>C
c.8502A>C (p.Ser2834=)
c.8379A>C (p.Ser2793=)
c.5985A>C (p.Ser1995=)
c.8598A>C (p.Ser2866=)
c.6408A>C (p.Ser2136=)
c.6084A>C (p.Ser2028=)
11g.118504394A>GCA477360372KMT2Ac.8601A>G (p.Ser2867=)
c.8592A>G (p.Ser2864=)
c.2541A>G (p.Ser847=)
c.2799A>G (p.Ser933=)
c.8574A>G (p.Ser2858=)
c.8493A>G (p.Ser2831=)
n.7844A>G
c.8502A>G (p.Ser2834=)
c.8379A>G (p.Ser2793=)
c.5985A>G (p.Ser1995=)
c.8598A>G (p.Ser2866=)
c.6408A>G (p.Ser2136=)
c.6084A>G (p.Ser2028=)
11g.118504394A>TCA477360370KMT2Ac.8601A>T (p.Ser2867=)
c.8592A>T (p.Ser2864=)
c.2541A>T (p.Ser847=)
c.2799A>T (p.Ser933=)
c.8574A>T (p.Ser2858=)
c.8493A>T (p.Ser2831=)
n.7844A>T
c.8502A>T (p.Ser2834=)
c.8379A>T (p.Ser2793=)
c.5985A>T (p.Ser1995=)
c.8598A>T (p.Ser2866=)
c.6408A>T (p.Ser2136=)
c.6084A>T (p.Ser2028=)
11g.118504395G>ACA382814285KMT2Ac.8602G>A (p.Asp2868Asn)
c.8593G>A (p.Asp2865Asn)
c.2542G>A (p.Asp848Asn)
c.2800G>A (p.Asp934Asn)
c.8575G>A (p.Asp2859Asn)
c.8494G>A (p.Asp2832Asn)
n.7845G>A
c.8503G>A (p.Asp2835Asn)
c.8380G>A (p.Asp2794Asn)
c.5986G>A (p.Asp1996Asn)
c.8599G>A (p.Asp2867Asn)
c.6409G>A (p.Asp2137Asn)
c.6085G>A (p.Asp2029Asn)
11g.118504395G>CCA382814282KMT2Ac.8602G>C (p.Asp2868His)
c.8593G>C (p.Asp2865His)
c.2542G>C (p.Asp848His)
c.2800G>C (p.Asp934His)
c.8575G>C (p.Asp2859His)
c.8494G>C (p.Asp2832His)
n.7845G>C
c.8503G>C (p.Asp2835His)
c.8380G>C (p.Asp2794His)
c.5986G>C (p.Asp1996His)
c.8599G>C (p.Asp2867His)
c.6409G>C (p.Asp2137His)
c.6085G>C (p.Asp2029His)
11g.118504395G>TCA382814280KMT2Ac.8602G>T (p.Asp2868Tyr)
c.8593G>T (p.Asp2865Tyr)
c.2542G>T (p.Asp848Tyr)
c.2800G>T (p.Asp934Tyr)
c.8575G>T (p.Asp2859Tyr)
c.8494G>T (p.Asp2832Tyr)
n.7845G>T
c.8503G>T (p.Asp2835Tyr)
c.8380G>T (p.Asp2794Tyr)
c.5986G>T (p.Asp1996Tyr)
c.8599G>T (p.Asp2867Tyr)
c.6409G>T (p.Asp2137Tyr)
c.6085G>T (p.Asp2029Tyr)
11g.118504396A>CCA382814294KMT2Ac.8603A>C (p.Asp2868Ala)
c.8594A>C (p.Asp2865Ala)
c.2543A>C (p.Asp848Ala)
c.2801A>C (p.Asp934Ala)
c.8576A>C (p.Asp2859Ala)
c.8495A>C (p.Asp2832Ala)
n.7846A>C
c.8504A>C (p.Asp2835Ala)
c.8381A>C (p.Asp2794Ala)
c.5987A>C (p.Asp1996Ala)
c.8600A>C (p.Asp2867Ala)
c.6410A>C (p.Asp2137Ala)
c.6086A>C (p.Asp2029Ala)
11g.118504396A>GCA382814290KMT2Ac.8603A>G (p.Asp2868Gly)
c.8594A>G (p.Asp2865Gly)
c.2543A>G (p.Asp848Gly)
c.2801A>G (p.Asp934Gly)
c.8576A>G (p.Asp2859Gly)
c.8495A>G (p.Asp2832Gly)
n.7846A>G
c.8504A>G (p.Asp2835Gly)
c.8381A>G (p.Asp2794Gly)
c.5987A>G (p.Asp1996Gly)
c.8600A>G (p.Asp2867Gly)
c.6410A>G (p.Asp2137Gly)
c.6086A>G (p.Asp2029Gly)
11g.118504396A>TCA382814292KMT2Ac.8603A>T (p.Asp2868Val)
c.8594A>T (p.Asp2865Val)
c.2543A>T (p.Asp848Val)
c.2801A>T (p.Asp934Val)
c.8576A>T (p.Asp2859Val)
c.8495A>T (p.Asp2832Val)
n.7846A>T
c.8504A>T (p.Asp2835Val)
c.8381A>T (p.Asp2794Val)
c.5987A>T (p.Asp1996Val)
c.8600A>T (p.Asp2867Val)
c.6410A>T (p.Asp2137Val)
c.6086A>T (p.Asp2029Val)
gnomAD v4
11g.118504397T>ACA382814298KMT2Ac.8604T>A (p.Asp2868Glu)
c.8595T>A (p.Asp2865Glu)
c.2544T>A (p.Asp848Glu)
c.2802T>A (p.Asp934Glu)
c.8577T>A (p.Asp2859Glu)
c.8496T>A (p.Asp2832Glu)
n.7847T>A
c.8505T>A (p.Asp2835Glu)
c.8382T>A (p.Asp2794Glu)
c.5988T>A (p.Asp1996Glu)
c.8601T>A (p.Asp2867Glu)
c.6411T>A (p.Asp2137Glu)
c.6087T>A (p.Asp2029Glu)
11g.118504397T>CCA477360378KMT2Ac.8604T>C (p.Asp2868=)
c.8595T>C (p.Asp2865=)
c.2544T>C (p.Asp848=)
c.2802T>C (p.Asp934=)
c.8577T>C (p.Asp2859=)
c.8496T>C (p.Asp2832=)
n.7847T>C
c.8505T>C (p.Asp2835=)
c.8382T>C (p.Asp2794=)
c.5988T>C (p.Asp1996=)
c.8601T>C (p.Asp2867=)
c.6411T>C (p.Asp2137=)
c.6087T>C (p.Asp2029=)
11g.118504397T>GCA382814301KMT2Ac.8604T>G (p.Asp2868Glu)
c.8595T>G (p.Asp2865Glu)
c.2544T>G (p.Asp848Glu)
c.2802T>G (p.Asp934Glu)
c.8577T>G (p.Asp2859Glu)
c.8496T>G (p.Asp2832Glu)
n.7847T>G
c.8505T>G (p.Asp2835Glu)
c.8382T>G (p.Asp2794Glu)
c.5988T>G (p.Asp1996Glu)
c.8601T>G (p.Asp2867Glu)
c.6411T>G (p.Asp2137Glu)
c.6087T>G (p.Asp2029Glu)
11g.118504398T>ACA382814304KMT2Ac.8605T>A (p.Ser2869Thr)
c.8596T>A (p.Ser2866Thr)
c.2545T>A (p.Ser849Thr)
c.2803T>A (p.Ser935Thr)
c.8578T>A (p.Ser2860Thr)
c.8497T>A (p.Ser2833Thr)
n.7848T>A
c.8506T>A (p.Ser2836Thr)
c.8383T>A (p.Ser2795Thr)
c.5989T>A (p.Ser1997Thr)
c.8602T>A (p.Ser2868Thr)
c.6412T>A (p.Ser2138Thr)
c.6088T>A (p.Ser2030Thr)
11g.118504398T>CCA382814307KMT2Ac.8605T>C (p.Ser2869Pro)
c.8596T>C (p.Ser2866Pro)
c.2545T>C (p.Ser849Pro)
c.2803T>C (p.Ser935Pro)
c.8578T>C (p.Ser2860Pro)
c.8497T>C (p.Ser2833Pro)
n.7848T>C
c.8506T>C (p.Ser2836Pro)
c.8383T>C (p.Ser2795Pro)
c.5989T>C (p.Ser1997Pro)
c.8602T>C (p.Ser2868Pro)
c.6412T>C (p.Ser2138Pro)
c.6088T>C (p.Ser2030Pro)
11g.118504398T>GCA382814313KMT2Ac.8605T>G (p.Ser2869Ala)
c.8596T>G (p.Ser2866Ala)
c.2545T>G (p.Ser849Ala)
c.2803T>G (p.Ser935Ala)
c.8578T>G (p.Ser2860Ala)
c.8497T>G (p.Ser2833Ala)
n.7848T>G
c.8506T>G (p.Ser2836Ala)
c.8383T>G (p.Ser2795Ala)
c.5989T>G (p.Ser1997Ala)
c.8602T>G (p.Ser2868Ala)
c.6412T>G (p.Ser2138Ala)
c.6088T>G (p.Ser2030Ala)
11g.118504399C>ACA382814315KMT2Ac.8606C>A (p.Ser2869Ter)
c.8597C>A (p.Ser2866Ter)
c.2546C>A (p.Ser849Ter)
c.2804C>A (p.Ser935Ter)
c.8579C>A (p.Ser2860Ter)
c.8498C>A (p.Ser2833Ter)
n.7849C>A
c.8507C>A (p.Ser2836Ter)
c.8384C>A (p.Ser2795Ter)
c.5990C>A (p.Ser1997Ter)
c.8603C>A (p.Ser2868Ter)
c.6413C>A (p.Ser2138Ter)
c.6089C>A (p.Ser2030Ter)
11g.118504399C>GCA382814318KMT2Ac.8606C>G (p.Ser2869Ter)
c.8597C>G (p.Ser2866Ter)
c.2546C>G (p.Ser849Ter)
c.2804C>G (p.Ser935Ter)
c.8579C>G (p.Ser2860Ter)
c.8498C>G (p.Ser2833Ter)
n.7849C>G
c.8507C>G (p.Ser2836Ter)
c.8384C>G (p.Ser2795Ter)
c.5990C>G (p.Ser1997Ter)
c.8603C>G (p.Ser2868Ter)
c.6413C>G (p.Ser2138Ter)
c.6089C>G (p.Ser2030Ter)
11g.118504399C>TCA382814320KMT2Ac.8606C>T (p.Ser2869Leu)
c.8597C>T (p.Ser2866Leu)
c.2546C>T (p.Ser849Leu)
c.2804C>T (p.Ser935Leu)
c.8579C>T (p.Ser2860Leu)
c.8498C>T (p.Ser2833Leu)
n.7849C>T
c.8507C>T (p.Ser2836Leu)
c.8384C>T (p.Ser2795Leu)
c.5990C>T (p.Ser1997Leu)
c.8603C>T (p.Ser2868Leu)
c.6413C>T (p.Ser2138Leu)
c.6089C>T (p.Ser2030Leu)
11g.118504400A=CA2003528895KMT2Ac.8607A= (p.Ser2869=)
c.8598A= (p.Ser2866=)
c.2547A= (p.Ser849=)
c.2805A= (p.Ser935=)
c.8580A= (p.Ser2860=)
c.8499A= (p.Ser2833=)
n.7850A=
c.8508A= (p.Ser2836=)
c.8385A= (p.Ser2795=)
c.5991A= (p.Ser1997=)
c.8604A= (p.Ser2868=)
c.6414A= (p.Ser2138=)
c.6090A= (p.Ser2030=)
11g.118504400A>CCA477360392KMT2Ac.8607A>C (p.Ser2869=)
c.8598A>C (p.Ser2866=)
c.2547A>C (p.Ser849=)
c.2805A>C (p.Ser935=)
c.8580A>C (p.Ser2860=)
c.8499A>C (p.Ser2833=)
n.7850A>C
c.8508A>C (p.Ser2836=)
c.8385A>C (p.Ser2795=)
c.5991A>C (p.Ser1997=)
c.8604A>C (p.Ser2868=)
c.6414A>C (p.Ser2138=)
c.6090A>C (p.Ser2030=)
11g.118504400A>GCA477360393KMT2Ac.8607A>G (p.Ser2869=)
c.8598A>G (p.Ser2866=)
c.2547A>G (p.Ser849=)
c.2805A>G (p.Ser935=)
c.8580A>G (p.Ser2860=)
c.8499A>G (p.Ser2833=)
n.7850A>G
c.8508A>G (p.Ser2836=)
c.8385A>G (p.Ser2795=)
c.5991A>G (p.Ser1997=)
c.8604A>G (p.Ser2868=)
c.6414A>G (p.Ser2138=)
c.6090A>G (p.Ser2030=)
dbSNP gnomAD v3 gnomAD v4
11g.118504400A>TCA477360394KMT2Ac.8607A>T (p.Ser2869=)
c.8598A>T (p.Ser2866=)
c.2547A>T (p.Ser849=)
c.2805A>T (p.Ser935=)
c.8580A>T (p.Ser2860=)
c.8499A>T (p.Ser2833=)
n.7850A>T
c.8508A>T (p.Ser2836=)
c.8385A>T (p.Ser2795=)
c.5991A>T (p.Ser1997=)
c.8604A>T (p.Ser2868=)
c.6414A>T (p.Ser2138=)
c.6090A>T (p.Ser2030=)
11g.118504401G>ACA382814321KMT2Ac.8608G>A (p.Asp2870Asn)
c.8599G>A (p.Asp2867Asn)
c.2548G>A (p.Asp850Asn)
c.2806G>A (p.Asp936Asn)
c.8581G>A (p.Asp2861Asn)
c.8500G>A (p.Asp2834Asn)
n.7851G>A
c.8509G>A (p.Asp2837Asn)
c.8386G>A (p.Asp2796Asn)
c.5992G>A (p.Asp1998Asn)
c.8605G>A (p.Asp2869Asn)
c.6415G>A (p.Asp2139Asn)
c.6091G>A (p.Asp2031Asn)
11g.118504401G>CCA382814323KMT2Ac.8608G>C (p.Asp2870His)
c.8599G>C (p.Asp2867His)
c.2548G>C (p.Asp850His)
c.2806G>C (p.Asp936His)
c.8581G>C (p.Asp2861His)
c.8500G>C (p.Asp2834His)
n.7851G>C
c.8509G>C (p.Asp2837His)
c.8386G>C (p.Asp2796His)
c.5992G>C (p.Asp1998His)
c.8605G>C (p.Asp2869His)
c.6415G>C (p.Asp2139His)
c.6091G>C (p.Asp2031His)
11g.118504401G>TCA382814324KMT2Ac.8608G>T (p.Asp2870Tyr)
c.8599G>T (p.Asp2867Tyr)
c.2548G>T (p.Asp850Tyr)
c.2806G>T (p.Asp936Tyr)
c.8581G>T (p.Asp2861Tyr)
c.8500G>T (p.Asp2834Tyr)
n.7851G>T
c.8509G>T (p.Asp2837Tyr)
c.8386G>T (p.Asp2796Tyr)
c.5992G>T (p.Asp1998Tyr)
c.8605G>T (p.Asp2869Tyr)
c.6415G>T (p.Asp2139Tyr)
c.6091G>T (p.Asp2031Tyr)
11g.118504402A>CCA382814333KMT2Ac.8609A>C (p.Asp2870Ala)
c.8600A>C (p.Asp2867Ala)
c.2549A>C (p.Asp850Ala)
c.2807A>C (p.Asp936Ala)
c.8582A>C (p.Asp2861Ala)
c.8501A>C (p.Asp2834Ala)
n.7852A>C
c.8510A>C (p.Asp2837Ala)
c.8387A>C (p.Asp2796Ala)
c.5993A>C (p.Asp1998Ala)
c.8606A>C (p.Asp2869Ala)
c.6416A>C (p.Asp2139Ala)
c.6092A>C (p.Asp2031Ala)
11g.118504402A>GCA382814328KMT2Ac.8609A>G (p.Asp2870Gly)
c.8600A>G (p.Asp2867Gly)
c.2549A>G (p.Asp850Gly)
c.2807A>G (p.Asp936Gly)
c.8582A>G (p.Asp2861Gly)
c.8501A>G (p.Asp2834Gly)
n.7852A>G
c.8510A>G (p.Asp2837Gly)
c.8387A>G (p.Asp2796Gly)
c.5993A>G (p.Asp1998Gly)
c.8606A>G (p.Asp2869Gly)
c.6416A>G (p.Asp2139Gly)
c.6092A>G (p.Asp2031Gly)
11g.118504402A>TCA382814331KMT2Ac.8609A>T (p.Asp2870Val)
c.8600A>T (p.Asp2867Val)
c.2549A>T (p.Asp850Val)
c.2807A>T (p.Asp936Val)
c.8582A>T (p.Asp2861Val)
c.8501A>T (p.Asp2834Val)
n.7852A>T
c.8510A>T (p.Asp2837Val)
c.8387A>T (p.Asp2796Val)
c.5993A>T (p.Asp1998Val)
c.8606A>T (p.Asp2869Val)
c.6416A>T (p.Asp2139Val)
c.6092A>T (p.Asp2031Val)
11g.118504403C>ACA382814336KMT2Ac.8610C>A (p.Asp2870Glu)
c.8601C>A (p.Asp2867Glu)
c.2550C>A (p.Asp850Glu)
c.2808C>A (p.Asp936Glu)
c.8583C>A (p.Asp2861Glu)
c.8502C>A (p.Asp2834Glu)
n.7853C>A
c.8511C>A (p.Asp2837Glu)
c.8388C>A (p.Asp2796Glu)
c.5994C>A (p.Asp1998Glu)
c.8607C>A (p.Asp2869Glu)
c.6417C>A (p.Asp2139Glu)
c.6093C>A (p.Asp2031Glu)
11g.118504403C=CA2003528900KMT2Ac.8610C= (p.Asp2870=)
c.8601C= (p.Asp2867=)
c.2550C= (p.Asp850=)
c.2808C= (p.Asp936=)
c.8583C= (p.Asp2861=)
c.8502C= (p.Asp2834=)
n.7853C=
c.8511C= (p.Asp2837=)
c.8388C= (p.Asp2796=)
c.5994C= (p.Asp1998=)
c.8607C= (p.Asp2869=)
c.6417C= (p.Asp2139=)
c.6093C= (p.Asp2031=)
11g.118504403C>GCA382814338KMT2Ac.8610C>G (p.Asp2870Glu)
c.8601C>G (p.Asp2867Glu)
c.2550C>G (p.Asp850Glu)
c.2808C>G (p.Asp936Glu)
c.8583C>G (p.Asp2861Glu)
c.8502C>G (p.Asp2834Glu)
n.7853C>G
c.8511C>G (p.Asp2837Glu)
c.8388C>G (p.Asp2796Glu)
c.5994C>G (p.Asp1998Glu)
c.8607C>G (p.Asp2869Glu)
c.6417C>G (p.Asp2139Glu)
c.6093C>G (p.Asp2031Glu)
11g.118504403C>TCA477360401KMT2Ac.8610C>T (p.Asp2870=)
c.8601C>T (p.Asp2867=)
c.2550C>T (p.Asp850=)
c.2808C>T (p.Asp936=)
c.8583C>T (p.Asp2861=)
c.8502C>T (p.Asp2834=)
n.7853C>T
c.8511C>T (p.Asp2837=)
c.8388C>T (p.Asp2796=)
c.5994C>T (p.Asp1998=)
c.8607C>T (p.Asp2869=)
c.6417C>T (p.Asp2139=)
c.6093C>T (p.Asp2031=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.118504404A=CA2003528903KMT2Ac.8611A= (p.Asn2871=)
c.8602A= (p.Asn2868=)
c.2551A= (p.Asn851=)
c.2809A= (p.Asn937=)
c.8584A= (p.Asn2862=)
c.8503A= (p.Asn2835=)
n.7854A=
c.8512A= (p.Asn2838=)
c.8389A= (p.Asn2797=)
c.5995A= (p.Asn1999=)
c.8608A= (p.Asn2870=)
c.6418A= (p.Asn2140=)
c.6094A= (p.Asn2032=)
11g.118504404A>CCA382814341KMT2Ac.8611A>C (p.Asn2871His)
c.8602A>C (p.Asn2868His)
c.2551A>C (p.Asn851His)
c.2809A>C (p.Asn937His)
c.8584A>C (p.Asn2862His)
c.8503A>C (p.Asn2835His)
n.7854A>C
c.8512A>C (p.Asn2838His)
c.8389A>C (p.Asn2797His)
c.5995A>C (p.Asn1999His)
c.8608A>C (p.Asn2870His)
c.6418A>C (p.Asn2140His)
c.6094A>C (p.Asn2032His)
11g.118504404A>GCA382814346KMT2Ac.8611A>G (p.Asn2871Asp)
c.8602A>G (p.Asn2868Asp)
c.2551A>G (p.Asn851Asp)
c.2809A>G (p.Asn937Asp)
c.8584A>G (p.Asn2862Asp)
c.8503A>G (p.Asn2835Asp)
n.7854A>G
c.8512A>G (p.Asn2838Asp)
c.8389A>G (p.Asn2797Asp)
c.5995A>G (p.Asn1999Asp)
c.8608A>G (p.Asn2870Asp)
c.6418A>G (p.Asn2140Asp)
c.6094A>G (p.Asn2032Asp)
11g.118504404A>TCA382814349KMT2Ac.8611A>T (p.Asn2871Tyr)
c.8602A>T (p.Asn2868Tyr)
c.2551A>T (p.Asn851Tyr)
c.2809A>T (p.Asn937Tyr)
c.8584A>T (p.Asn2862Tyr)
c.8503A>T (p.Asn2835Tyr)
n.7854A>T
c.8512A>T (p.Asn2838Tyr)
c.8389A>T (p.Asn2797Tyr)
c.5995A>T (p.Asn1999Tyr)
c.8608A>T (p.Asn2870Tyr)
c.6418A>T (p.Asn2140Tyr)
c.6094A>T (p.Asn2032Tyr)
dbSNP gnomAD v2
11g.118504405A>CCA382814352KMT2Ac.8612A>C (p.Asn2871Thr)
c.8603A>C (p.Asn2868Thr)
c.2552A>C (p.Asn851Thr)
c.2810A>C (p.Asn937Thr)
c.8585A>C (p.Asn2862Thr)
c.8504A>C (p.Asn2835Thr)
n.7855A>C
c.8513A>C (p.Asn2838Thr)
c.8390A>C (p.Asn2797Thr)
c.5996A>C (p.Asn1999Thr)
c.8609A>C (p.Asn2870Thr)
c.6419A>C (p.Asn2140Thr)
c.6095A>C (p.Asn2032Thr)
11g.118504405A>GCA382814353KMT2Ac.8612A>G (p.Asn2871Ser)
c.8603A>G (p.Asn2868Ser)
c.2552A>G (p.Asn851Ser)
c.2810A>G (p.Asn937Ser)
c.8585A>G (p.Asn2862Ser)
c.8504A>G (p.Asn2835Ser)
n.7855A>G
c.8513A>G (p.Asn2838Ser)
c.8390A>G (p.Asn2797Ser)
c.5996A>G (p.Asn1999Ser)
c.8609A>G (p.Asn2870Ser)
c.6419A>G (p.Asn2140Ser)
c.6095A>G (p.Asn2032Ser)
gnomAD v4
11g.118504405A>TCA382814357KMT2Ac.8612A>T (p.Asn2871Ile)
c.8603A>T (p.Asn2868Ile)
c.2552A>T (p.Asn851Ile)
c.2810A>T (p.Asn937Ile)
c.8585A>T (p.Asn2862Ile)
c.8504A>T (p.Asn2835Ile)
n.7855A>T
c.8513A>T (p.Asn2838Ile)
c.8390A>T (p.Asn2797Ile)
c.5996A>T (p.Asn1999Ile)
c.8609A>T (p.Asn2870Ile)
c.6419A>T (p.Asn2140Ile)
c.6095A>T (p.Asn2032Ile)
11g.118504406T>ACA382814368KMT2Ac.8613T>A (p.Asn2871Lys)
c.8604T>A (p.Asn2868Lys)
c.2553T>A (p.Asn851Lys)
c.2811T>A (p.Asn937Lys)
c.8586T>A (p.Asn2862Lys)
c.8505T>A (p.Asn2835Lys)
n.7856T>A
c.8514T>A (p.Asn2838Lys)
c.8391T>A (p.Asn2797Lys)
c.5997T>A (p.Asn1999Lys)
c.8610T>A (p.Asn2870Lys)
c.6420T>A (p.Asn2140Lys)
c.6096T>A (p.Asn2032Lys)
11g.118504406T>CCA477360420KMT2Ac.8613T>C (p.Asn2871=)
c.8604T>C (p.Asn2868=)
c.2553T>C (p.Asn851=)
c.2811T>C (p.Asn937=)
c.8586T>C (p.Asn2862=)
c.8505T>C (p.Asn2835=)
n.7856T>C
c.8514T>C (p.Asn2838=)
c.8391T>C (p.Asn2797=)
c.5997T>C (p.Asn1999=)
c.8610T>C (p.Asn2870=)
c.6420T>C (p.Asn2140=)
c.6096T>C (p.Asn2032=)
dbSNP gnomAD v2 gnomAD v4
11g.118504406T>GCA382814372KMT2Ac.8613T>G (p.Asn2871Lys)
c.8604T>G (p.Asn2868Lys)
c.2553T>G (p.Asn851Lys)
c.2811T>G (p.Asn937Lys)
c.8586T>G (p.Asn2862Lys)
c.8505T>G (p.Asn2835Lys)
n.7856T>G
c.8514T>G (p.Asn2838Lys)
c.8391T>G (p.Asn2797Lys)
c.5997T>G (p.Asn1999Lys)
c.8610T>G (p.Asn2870Lys)
c.6420T>G (p.Asn2140Lys)
c.6096T>G (p.Asn2032Lys)
11g.118504406T=CA2003528905KMT2Ac.8613T= (p.Asn2871=)
c.8604T= (p.Asn2868=)
c.2553T= (p.Asn851=)
c.2811T= (p.Asn937=)
c.8586T= (p.Asn2862=)
c.8505T= (p.Asn2835=)
n.7856T=
c.8514T= (p.Asn2838=)
c.8391T= (p.Asn2797=)
c.5997T= (p.Asn1999=)
c.8610T= (p.Asn2870=)
c.6420T= (p.Asn2140=)
c.6096T= (p.Asn2032=)
11g.118504407A>CCA382814375KMT2Ac.8614A>C (p.Asn2872His)
c.8605A>C (p.Asn2869His)
c.2554A>C (p.Asn852His)
c.2812A>C (p.Asn938His)
c.8587A>C (p.Asn2863His)
c.8506A>C (p.Asn2836His)
n.7857A>C
c.8515A>C (p.Asn2839His)
c.8392A>C (p.Asn2798His)
c.5998A>C (p.Asn2000His)
c.8611A>C (p.Asn2871His)
c.6421A>C (p.Asn2141His)
c.6097A>C (p.Asn2033His)
11g.118504407A>GCA382814378KMT2Ac.8614A>G (p.Asn2872Asp)
c.8605A>G (p.Asn2869Asp)
c.2554A>G (p.Asn852Asp)
c.2812A>G (p.Asn938Asp)
c.8587A>G (p.Asn2863Asp)
c.8506A>G (p.Asn2836Asp)
n.7857A>G
c.8515A>G (p.Asn2839Asp)
c.8392A>G (p.Asn2798Asp)
c.5998A>G (p.Asn2000Asp)
c.8611A>G (p.Asn2871Asp)
c.6421A>G (p.Asn2141Asp)
c.6097A>G (p.Asn2033Asp)
11g.118504407A>TCA382814380KMT2Ac.8614A>T (p.Asn2872Tyr)
c.8605A>T (p.Asn2869Tyr)
c.2554A>T (p.Asn852Tyr)
c.2812A>T (p.Asn938Tyr)
c.8587A>T (p.Asn2863Tyr)
c.8506A>T (p.Asn2836Tyr)
n.7857A>T
c.8515A>T (p.Asn2839Tyr)
c.8392A>T (p.Asn2798Tyr)
c.5998A>T (p.Asn2000Tyr)
c.8611A>T (p.Asn2871Tyr)
c.6421A>T (p.Asn2141Tyr)
c.6097A>T (p.Asn2033Tyr)
11g.118504408A>CCA382814391KMT2Ac.8615A>C (p.Asn2872Thr)
c.8606A>C (p.Asn2869Thr)
c.2555A>C (p.Asn852Thr)
c.2813A>C (p.Asn938Thr)
c.8588A>C (p.Asn2863Thr)
c.8507A>C (p.Asn2836Thr)
n.7858A>C
c.8516A>C (p.Asn2839Thr)
c.8393A>C (p.Asn2798Thr)
c.5999A>C (p.Asn2000Thr)
c.8612A>C (p.Asn2871Thr)
c.6422A>C (p.Asn2141Thr)
c.6098A>C (p.Asn2033Thr)
11g.118504408A>GCA382814394KMT2Ac.8615A>G (p.Asn2872Ser)
c.8606A>G (p.Asn2869Ser)
c.2555A>G (p.Asn852Ser)
c.2813A>G (p.Asn938Ser)
c.8588A>G (p.Asn2863Ser)
c.8507A>G (p.Asn2836Ser)
n.7858A>G
c.8516A>G (p.Asn2839Ser)
c.8393A>G (p.Asn2798Ser)
c.5999A>G (p.Asn2000Ser)
c.8612A>G (p.Asn2871Ser)
c.6422A>G (p.Asn2141Ser)
c.6098A>G (p.Asn2033Ser)
11g.118504408A>TCA382814389KMT2Ac.8615A>T (p.Asn2872Ile)
c.8606A>T (p.Asn2869Ile)
c.2555A>T (p.Asn852Ile)
c.2813A>T (p.Asn938Ile)
c.8588A>T (p.Asn2863Ile)
c.8507A>T (p.Asn2836Ile)
n.7858A>T
c.8516A>T (p.Asn2839Ile)
c.8393A>T (p.Asn2798Ile)
c.5999A>T (p.Asn2000Ile)
c.8612A>T (p.Asn2871Ile)
c.6422A>T (p.Asn2141Ile)
c.6098A>T (p.Asn2033Ile)
11g.118504409C>ACA382814399KMT2Ac.8616C>A (p.Asn2872Lys)
c.8607C>A (p.Asn2869Lys)
c.2556C>A (p.Asn852Lys)
c.2814C>A (p.Asn938Lys)
c.8589C>A (p.Asn2863Lys)
c.8508C>A (p.Asn2836Lys)
n.7859C>A
c.8517C>A (p.Asn2839Lys)
c.8394C>A (p.Asn2798Lys)
c.6000C>A (p.Asn2000Lys)
c.8613C>A (p.Asn2871Lys)
c.6423C>A (p.Asn2141Lys)
c.6099C>A (p.Asn2033Lys)
11g.118504409C=CA2003528907KMT2Ac.8616C= (p.Asn2872=)
c.8607C= (p.Asn2869=)
c.2556C= (p.Asn852=)
c.2814C= (p.Asn938=)
c.8589C= (p.Asn2863=)
c.8508C= (p.Asn2836=)
n.7859C=
c.8517C= (p.Asn2839=)
c.8394C= (p.Asn2798=)
c.6000C= (p.Asn2000=)
c.8613C= (p.Asn2871=)
c.6423C= (p.Asn2141=)
c.6099C= (p.Asn2033=)
11g.118504409C>GCA382814403KMT2Ac.8616C>G (p.Asn2872Lys)
c.8607C>G (p.Asn2869Lys)
c.2556C>G (p.Asn852Lys)
c.2814C>G (p.Asn938Lys)
c.8589C>G (p.Asn2863Lys)
c.8508C>G (p.Asn2836Lys)
n.7859C>G
c.8517C>G (p.Asn2839Lys)
c.8394C>G (p.Asn2798Lys)
c.6000C>G (p.Asn2000Lys)
c.8613C>G (p.Asn2871Lys)
c.6423C>G (p.Asn2141Lys)
c.6099C>G (p.Asn2033Lys)
dbSNP
11g.118504409C>TCA6304508KMT2Ac.8616C>T (p.Asn2872=)
c.8607C>T (p.Asn2869=)
c.2556C>T (p.Asn852=)
c.2814C>T (p.Asn938=)
c.8589C>T (p.Asn2863=)
c.8508C>T (p.Asn2836=)
n.7859C>T
c.8517C>T (p.Asn2839=)
c.8394C>T (p.Asn2798=)
c.6000C>T (p.Asn2000=)
c.8613C>T (p.Asn2871=)
c.6423C>T (p.Asn2141=)
c.6099C>T (p.Asn2033=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.118504410A>CCA382814408KMT2Ac.8617A>C (p.Asn2873His)
c.8608A>C (p.Asn2870His)
c.2557A>C (p.Asn853His)
c.2815A>C (p.Asn939His)
c.8590A>C (p.Asn2864His)
c.8509A>C (p.Asn2837His)
n.7860A>C
c.8518A>C (p.Asn2840His)
c.8395A>C (p.Asn2799His)
c.6001A>C (p.Asn2001His)
c.8614A>C (p.Asn2872His)
c.6424A>C (p.Asn2142His)
c.6100A>C (p.Asn2034His)
11g.118504410A>GCA382814409KMT2Ac.8617A>G (p.Asn2873Asp)
c.8608A>G (p.Asn2870Asp)
c.2557A>G (p.Asn853Asp)
c.2815A>G (p.Asn939Asp)
c.8590A>G (p.Asn2864Asp)
c.8509A>G (p.Asn2837Asp)
n.7860A>G
c.8518A>G (p.Asn2840Asp)
c.8395A>G (p.Asn2799Asp)
c.6001A>G (p.Asn2001Asp)
c.8614A>G (p.Asn2872Asp)
c.6424A>G (p.Asn2142Asp)
c.6100A>G (p.Asn2034Asp)
11g.118504410A>TCA382814411KMT2Ac.8617A>T (p.Asn2873Tyr)
c.8608A>T (p.Asn2870Tyr)
c.2557A>T (p.Asn853Tyr)
c.2815A>T (p.Asn939Tyr)
c.8590A>T (p.Asn2864Tyr)
c.8509A>T (p.Asn2837Tyr)
n.7860A>T
c.8518A>T (p.Asn2840Tyr)
c.8395A>T (p.Asn2799Tyr)
c.6001A>T (p.Asn2001Tyr)
c.8614A>T (p.Asn2872Tyr)
c.6424A>T (p.Asn2142Tyr)
c.6100A>T (p.Asn2034Tyr)
11g.118504411A>CCA382814412KMT2Ac.8618A>C (p.Asn2873Thr)
c.8609A>C (p.Asn2870Thr)
c.2558A>C (p.Asn853Thr)
c.2816A>C (p.Asn939Thr)
c.8591A>C (p.Asn2864Thr)
c.8510A>C (p.Asn2837Thr)
n.7861A>C
c.8519A>C (p.Asn2840Thr)
c.8396A>C (p.Asn2799Thr)
c.6002A>C (p.Asn2001Thr)
c.8615A>C (p.Asn2872Thr)
c.6425A>C (p.Asn2142Thr)
c.6101A>C (p.Asn2034Thr)
11g.118504411A>GCA382814415KMT2Ac.8618A>G (p.Asn2873Ser)
c.8609A>G (p.Asn2870Ser)
c.2558A>G (p.Asn853Ser)
c.2816A>G (p.Asn939Ser)
c.8591A>G (p.Asn2864Ser)
c.8510A>G (p.Asn2837Ser)
n.7861A>G
c.8519A>G (p.Asn2840Ser)
c.8396A>G (p.Asn2799Ser)
c.6002A>G (p.Asn2001Ser)
c.8615A>G (p.Asn2872Ser)
c.6425A>G (p.Asn2142Ser)
c.6101A>G (p.Asn2034Ser)
gnomAD v4
11g.118504411A>TCA382814416KMT2Ac.8618A>T (p.Asn2873Ile)
c.8609A>T (p.Asn2870Ile)
c.2558A>T (p.Asn853Ile)
c.2816A>T (p.Asn939Ile)
c.8591A>T (p.Asn2864Ile)
c.8510A>T (p.Asn2837Ile)
n.7861A>T
c.8519A>T (p.Asn2840Ile)
c.8396A>T (p.Asn2799Ile)
c.6002A>T (p.Asn2001Ile)
c.8615A>T (p.Asn2872Ile)
c.6425A>T (p.Asn2142Ile)
c.6101A>T (p.Asn2034Ile)
11g.118504412C>ACA382814420KMT2Ac.8619C>A (p.Asn2873Lys)
c.8610C>A (p.Asn2870Lys)
c.2559C>A (p.Asn853Lys)
c.2817C>A (p.Asn939Lys)
c.8592C>A (p.Asn2864Lys)
c.8511C>A (p.Asn2837Lys)
n.7862C>A
c.8520C>A (p.Asn2840Lys)
c.8397C>A (p.Asn2799Lys)
c.6003C>A (p.Asn2001Lys)
c.8616C>A (p.Asn2872Lys)
c.6426C>A (p.Asn2142Lys)
c.6102C>A (p.Asn2034Lys)
11g.118504412C=CA2003528910KMT2Ac.8619C= (p.Asn2873=)
c.8610C= (p.Asn2870=)
c.2559C= (p.Asn853=)
c.2817C= (p.Asn939=)
c.8592C= (p.Asn2864=)
c.8511C= (p.Asn2837=)
n.7862C=
c.8520C= (p.Asn2840=)
c.8397C= (p.Asn2799=)
c.6003C= (p.Asn2001=)
c.8616C= (p.Asn2872=)
c.6426C= (p.Asn2142=)
c.6102C= (p.Asn2034=)
11g.118504412C>GCA382814430KMT2Ac.8619C>G (p.Asn2873Lys)
c.8610C>G (p.Asn2870Lys)
c.2559C>G (p.Asn853Lys)
c.2817C>G (p.Asn939Lys)
c.8592C>G (p.Asn2864Lys)
c.8511C>G (p.Asn2837Lys)
n.7862C>G
c.8520C>G (p.Asn2840Lys)
c.8397C>G (p.Asn2799Lys)
c.6003C>G (p.Asn2001Lys)
c.8616C>G (p.Asn2872Lys)
c.6426C>G (p.Asn2142Lys)
c.6102C>G (p.Asn2034Lys)
11g.118504412C>TCA6304509KMT2Ac.8619C>T (p.Asn2873=)
c.8610C>T (p.Asn2870=)
c.2559C>T (p.Asn853=)
c.2817C>T (p.Asn939=)
c.8592C>T (p.Asn2864=)
c.8511C>T (p.Asn2837=)
n.7862C>T
c.8520C>T (p.Asn2840=)
c.8397C>T (p.Asn2799=)
c.6003C>T (p.Asn2001=)
c.8616C>T (p.Asn2872=)
c.6426C>T (p.Asn2142=)
c.6102C>T (p.Asn2034=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118504413A>CCA382814436KMT2Ac.8620A>C (p.Ser2874Arg)
c.8611A>C (p.Ser2871Arg)
c.2560A>C (p.Ser854Arg)
c.2818A>C (p.Ser940Arg)
c.8593A>C (p.Ser2865Arg)
c.8512A>C (p.Ser2838Arg)
n.7863A>C
c.8521A>C (p.Ser2841Arg)
c.8398A>C (p.Ser2800Arg)
c.6004A>C (p.Ser2002Arg)
c.8617A>C (p.Ser2873Arg)
c.6427A>C (p.Ser2143Arg)
c.6103A>C (p.Ser2035Arg)
11g.118504413A>GCA382814440KMT2Ac.8620A>G (p.Ser2874Gly)
c.8611A>G (p.Ser2871Gly)
c.2560A>G (p.Ser854Gly)
c.2818A>G (p.Ser940Gly)
c.8593A>G (p.Ser2865Gly)
c.8512A>G (p.Ser2838Gly)
n.7863A>G
c.8521A>G (p.Ser2841Gly)
c.8398A>G (p.Ser2800Gly)
c.6004A>G (p.Ser2002Gly)
c.8617A>G (p.Ser2873Gly)
c.6427A>G (p.Ser2143Gly)
c.6103A>G (p.Ser2035Gly)
11g.118504413A>TCA382814443KMT2Ac.8620A>T (p.Ser2874Cys)
c.8611A>T (p.Ser2871Cys)
c.2560A>T (p.Ser854Cys)
c.2818A>T (p.Ser940Cys)
c.8593A>T (p.Ser2865Cys)
c.8512A>T (p.Ser2838Cys)
n.7863A>T
c.8521A>T (p.Ser2841Cys)
c.8398A>T (p.Ser2800Cys)
c.6004A>T (p.Ser2002Cys)
c.8617A>T (p.Ser2873Cys)
c.6427A>T (p.Ser2143Cys)
c.6103A>T (p.Ser2035Cys)
11g.118504414G>ACA382814446KMT2Ac.8621G>A (p.Ser2874Asn)
c.8612G>A (p.Ser2871Asn)
c.2561G>A (p.Ser854Asn)
c.2819G>A (p.Ser940Asn)
c.8594G>A (p.Ser2865Asn)
c.8513G>A (p.Ser2838Asn)
n.7864G>A
c.8522G>A (p.Ser2841Asn)
c.8399G>A (p.Ser2800Asn)
c.6005G>A (p.Ser2002Asn)
c.8618G>A (p.Ser2873Asn)
c.6428G>A (p.Ser2143Asn)
c.6104G>A (p.Ser2035Asn)
gnomAD v4
11g.118504414G>CCA382814450KMT2Ac.8621G>C (p.Ser2874Thr)
c.8612G>C (p.Ser2871Thr)
c.2561G>C (p.Ser854Thr)
c.2819G>C (p.Ser940Thr)
c.8594G>C (p.Ser2865Thr)
c.8513G>C (p.Ser2838Thr)
n.7864G>C
c.8522G>C (p.Ser2841Thr)
c.8399G>C (p.Ser2800Thr)
c.6005G>C (p.Ser2002Thr)
c.8618G>C (p.Ser2873Thr)
c.6428G>C (p.Ser2143Thr)
c.6104G>C (p.Ser2035Thr)
11g.118504414G>TCA382814447KMT2Ac.8621G>T (p.Ser2874Ile)
c.8612G>T (p.Ser2871Ile)
c.2561G>T (p.Ser854Ile)
c.2819G>T (p.Ser940Ile)
c.8594G>T (p.Ser2865Ile)
c.8513G>T (p.Ser2838Ile)
n.7864G>T
c.8522G>T (p.Ser2841Ile)
c.8399G>T (p.Ser2800Ile)
c.6005G>T (p.Ser2002Ile)
c.8618G>T (p.Ser2873Ile)
c.6428G>T (p.Ser2143Ile)
c.6104G>T (p.Ser2035Ile)
11g.118504415T>ACA382814453KMT2Ac.8622T>A (p.Ser2874Arg)
c.8613T>A (p.Ser2871Arg)
c.2562T>A (p.Ser854Arg)
c.2820T>A (p.Ser940Arg)
c.8595T>A (p.Ser2865Arg)
c.8514T>A (p.Ser2838Arg)
n.7865T>A
c.8523T>A (p.Ser2841Arg)
c.8400T>A (p.Ser2800Arg)
c.6006T>A (p.Ser2002Arg)
c.8619T>A (p.Ser2873Arg)
c.6429T>A (p.Ser2143Arg)
c.6105T>A (p.Ser2035Arg)
11g.118504415T>CCA477360453KMT2Ac.8622T>C (p.Ser2874=)
c.8613T>C (p.Ser2871=)
c.2562T>C (p.Ser854=)
c.2820T>C (p.Ser940=)
c.8595T>C (p.Ser2865=)
c.8514T>C (p.Ser2838=)
n.7865T>C
c.8523T>C (p.Ser2841=)
c.8400T>C (p.Ser2800=)
c.6006T>C (p.Ser2002=)
c.8619T>C (p.Ser2873=)
c.6429T>C (p.Ser2143=)
c.6105T>C (p.Ser2035=)
11g.118504415T>GCA382814457KMT2Ac.8622T>G (p.Ser2874Arg)
c.8613T>G (p.Ser2871Arg)
c.2562T>G (p.Ser854Arg)
c.2820T>G (p.Ser940Arg)
c.8595T>G (p.Ser2865Arg)
c.8514T>G (p.Ser2838Arg)
n.7865T>G
c.8523T>G (p.Ser2841Arg)
c.8400T>G (p.Ser2800Arg)
c.6006T>G (p.Ser2002Arg)
c.8619T>G (p.Ser2873Arg)
c.6429T>G (p.Ser2143Arg)
c.6105T>G (p.Ser2035Arg)
11g.118504416G>ACA382814472KMT2Ac.8623G>A (p.Asp2875Asn)
c.8614G>A (p.Asp2872Asn)
c.2563G>A (p.Asp855Asn)
c.2821G>A (p.Asp941Asn)
c.8596G>A (p.Asp2866Asn)
c.8515G>A (p.Asp2839Asn)
n.7866G>A
c.8524G>A (p.Asp2842Asn)
c.8401G>A (p.Asp2801Asn)
c.6007G>A (p.Asp2003Asn)
c.8620G>A (p.Asp2874Asn)
c.6430G>A (p.Asp2144Asn)
c.6106G>A (p.Asp2036Asn)
dbSNP COSMIC COSMIC
11g.118504416G>CCA382814473KMT2Ac.8623G>C (p.Asp2875His)
c.8614G>C (p.Asp2872His)
c.2563G>C (p.Asp855His)
c.2821G>C (p.Asp941His)
c.8596G>C (p.Asp2866His)
c.8515G>C (p.Asp2839His)
n.7866G>C
c.8524G>C (p.Asp2842His)
c.8401G>C (p.Asp2801His)
c.6007G>C (p.Asp2003His)
c.8620G>C (p.Asp2874His)
c.6430G>C (p.Asp2144His)
c.6106G>C (p.Asp2036His)
11g.118504416G>TCA382814477KMT2Ac.8623G>T (p.Asp2875Tyr)
c.8614G>T (p.Asp2872Tyr)
c.2563G>T (p.Asp855Tyr)
c.2821G>T (p.Asp941Tyr)
c.8596G>T (p.Asp2866Tyr)
c.8515G>T (p.Asp2839Tyr)
n.7866G>T
c.8524G>T (p.Asp2842Tyr)
c.8401G>T (p.Asp2801Tyr)
c.6007G>T (p.Asp2003Tyr)
c.8620G>T (p.Asp2874Tyr)
c.6430G>T (p.Asp2144Tyr)
c.6106G>T (p.Asp2036Tyr)
11g.118504417A>CCA382814479KMT2Ac.8624A>C (p.Asp2875Ala)
c.8615A>C (p.Asp2872Ala)
c.2564A>C (p.Asp855Ala)
c.2822A>C (p.Asp941Ala)
c.8597A>C (p.Asp2866Ala)
c.8516A>C (p.Asp2839Ala)
n.7867A>C
c.8525A>C (p.Asp2842Ala)
c.8402A>C (p.Asp2801Ala)
c.6008A>C (p.Asp2003Ala)
c.8621A>C (p.Asp2874Ala)
c.6431A>C (p.Asp2144Ala)
c.6107A>C (p.Asp2036Ala)
11g.118504417A>GCA382814483KMT2Ac.8624A>G (p.Asp2875Gly)
c.8615A>G (p.Asp2872Gly)
c.2564A>G (p.Asp855Gly)
c.2822A>G (p.Asp941Gly)
c.8597A>G (p.Asp2866Gly)
c.8516A>G (p.Asp2839Gly)
n.7867A>G
c.8525A>G (p.Asp2842Gly)
c.8402A>G (p.Asp2801Gly)
c.6008A>G (p.Asp2003Gly)
c.8621A>G (p.Asp2874Gly)
c.6431A>G (p.Asp2144Gly)
c.6107A>G (p.Asp2036Gly)
COSMIC COSMIC
11g.118504417A>TCA382814486KMT2Ac.8624A>T (p.Asp2875Val)
c.8615A>T (p.Asp2872Val)
c.2564A>T (p.Asp855Val)
c.2822A>T (p.Asp941Val)
c.8597A>T (p.Asp2866Val)
c.8516A>T (p.Asp2839Val)
n.7867A>T
c.8525A>T (p.Asp2842Val)
c.8402A>T (p.Asp2801Val)
c.6008A>T (p.Asp2003Val)
c.8621A>T (p.Asp2874Val)
c.6431A>T (p.Asp2144Val)
c.6107A>T (p.Asp2036Val)
11g.118504418T>ACA382814491KMT2Ac.8625T>A (p.Asp2875Glu)
c.8616T>A (p.Asp2872Glu)
c.2565T>A (p.Asp855Glu)
c.2823T>A (p.Asp941Glu)
c.8598T>A (p.Asp2866Glu)
c.8517T>A (p.Asp2839Glu)
n.7868T>A
c.8526T>A (p.Asp2842Glu)
c.8403T>A (p.Asp2801Glu)
c.6009T>A (p.Asp2003Glu)
c.8622T>A (p.Asp2874Glu)
c.6432T>A (p.Asp2144Glu)
c.6108T>A (p.Asp2036Glu)
11g.118504418T>CCA477360468KMT2Ac.8625T>C (p.Asp2875=)
c.8616T>C (p.Asp2872=)
c.2565T>C (p.Asp855=)
c.2823T>C (p.Asp941=)
c.8598T>C (p.Asp2866=)
c.8517T>C (p.Asp2839=)
n.7868T>C
c.8526T>C (p.Asp2842=)
c.8403T>C (p.Asp2801=)
c.6009T>C (p.Asp2003=)
c.8622T>C (p.Asp2874=)
c.6432T>C (p.Asp2144=)
c.6108T>C (p.Asp2036=)
gnomAD v4
11g.118504418T>GCA382814493KMT2Ac.8625T>G (p.Asp2875Glu)
c.8616T>G (p.Asp2872Glu)
c.2565T>G (p.Asp855Glu)
c.2823T>G (p.Asp941Glu)
c.8598T>G (p.Asp2866Glu)
c.8517T>G (p.Asp2839Glu)
n.7868T>G
c.8526T>G (p.Asp2842Glu)
c.8403T>G (p.Asp2801Glu)
c.6009T>G (p.Asp2003Glu)
c.8622T>G (p.Asp2874Glu)
c.6432T>G (p.Asp2144Glu)
c.6108T>G (p.Asp2036Glu)
11g.118504419G>ACA382814499KMT2Ac.8626G>A (p.Asp2876Asn)
c.8617G>A (p.Asp2873Asn)
c.2566G>A (p.Asp856Asn)
c.2824G>A (p.Asp942Asn)
c.8599G>A (p.Asp2867Asn)
c.8518G>A (p.Asp2840Asn)
n.7869G>A
c.8527G>A (p.Asp2843Asn)
c.8404G>A (p.Asp2802Asn)
c.6010G>A (p.Asp2004Asn)
c.8623G>A (p.Asp2875Asn)
c.6433G>A (p.Asp2145Asn)
c.6109G>A (p.Asp2037Asn)
11g.118504419G>CCA382814501KMT2Ac.8626G>C (p.Asp2876His)
c.8617G>C (p.Asp2873His)
c.2566G>C (p.Asp856His)
c.2824G>C (p.Asp942His)
c.8599G>C (p.Asp2867His)
c.8518G>C (p.Asp2840His)
n.7869G>C
c.8527G>C (p.Asp2843His)
c.8404G>C (p.Asp2802His)
c.6010G>C (p.Asp2004His)
c.8623G>C (p.Asp2875His)
c.6433G>C (p.Asp2145His)
c.6109G>C (p.Asp2037His)
11g.118504419G>TCA382814495KMT2Ac.8626G>T (p.Asp2876Tyr)
c.8617G>T (p.Asp2873Tyr)
c.2566G>T (p.Asp856Tyr)
c.2824G>T (p.Asp942Tyr)
c.8599G>T (p.Asp2867Tyr)
c.8518G>T (p.Asp2840Tyr)
n.7869G>T
c.8527G>T (p.Asp2843Tyr)
c.8404G>T (p.Asp2802Tyr)
c.6010G>T (p.Asp2004Tyr)
c.8623G>T (p.Asp2875Tyr)
c.6433G>T (p.Asp2145Tyr)
c.6109G>T (p.Asp2037Tyr)
ClinVar
11g.118504420A>CCA382814507KMT2Ac.8627A>C (p.Asp2876Ala)
c.8618A>C (p.Asp2873Ala)
c.2567A>C (p.Asp856Ala)
c.2825A>C (p.Asp942Ala)
c.8600A>C (p.Asp2867Ala)
c.8519A>C (p.Asp2840Ala)
n.7870A>C
c.8528A>C (p.Asp2843Ala)
c.8405A>C (p.Asp2802Ala)
c.6011A>C (p.Asp2004Ala)
c.8624A>C (p.Asp2875Ala)
c.6434A>C (p.Asp2145Ala)
c.6110A>C (p.Asp2037Ala)
11g.118504420A>GCA382814510KMT2Ac.8627A>G (p.Asp2876Gly)
c.8618A>G (p.Asp2873Gly)
c.2567A>G (p.Asp856Gly)
c.2825A>G (p.Asp942Gly)
c.8600A>G (p.Asp2867Gly)
c.8519A>G (p.Asp2840Gly)
n.7870A>G
c.8528A>G (p.Asp2843Gly)
c.8405A>G (p.Asp2802Gly)
c.6011A>G (p.Asp2004Gly)
c.8624A>G (p.Asp2875Gly)
c.6434A>G (p.Asp2145Gly)
c.6110A>G (p.Asp2037Gly)
11g.118504420A>TCA382814513KMT2Ac.8627A>T (p.Asp2876Val)
c.8618A>T (p.Asp2873Val)
c.2567A>T (p.Asp856Val)
c.2825A>T (p.Asp942Val)
c.8600A>T (p.Asp2867Val)
c.8519A>T (p.Asp2840Val)
n.7870A>T
c.8528A>T (p.Asp2843Val)
c.8405A>T (p.Asp2802Val)
c.6011A>T (p.Asp2004Val)
c.8624A>T (p.Asp2875Val)
c.6434A>T (p.Asp2145Val)
c.6110A>T (p.Asp2037Val)
11g.118504421C>ACA382814515KMT2Ac.8628C>A (p.Asp2876Glu)
c.8619C>A (p.Asp2873Glu)
c.2568C>A (p.Asp856Glu)
c.2826C>A (p.Asp942Glu)
c.8601C>A (p.Asp2867Glu)
c.8520C>A (p.Asp2840Glu)
n.7871C>A
c.8529C>A (p.Asp2843Glu)
c.8406C>A (p.Asp2802Glu)
c.6012C>A (p.Asp2004Glu)
c.8625C>A (p.Asp2875Glu)
c.6435C>A (p.Asp2145Glu)
c.6111C>A (p.Asp2037Glu)
11g.118504421C=CA2003528912KMT2Ac.8628C= (p.Asp2876=)
c.8619C= (p.Asp2873=)
c.2568C= (p.Asp856=)
c.2826C= (p.Asp942=)
c.8601C= (p.Asp2867=)
c.8520C= (p.Asp2840=)
n.7871C=
c.8529C= (p.Asp2843=)
c.8406C= (p.Asp2802=)
c.6012C= (p.Asp2004=)
c.8625C= (p.Asp2875=)
c.6435C= (p.Asp2145=)
c.6111C= (p.Asp2037=)
11g.118504421C>GCA382814517KMT2Ac.8628C>G (p.Asp2876Glu)
c.8619C>G (p.Asp2873Glu)
c.2568C>G (p.Asp856Glu)
c.2826C>G (p.Asp942Glu)
c.8601C>G (p.Asp2867Glu)
c.8520C>G (p.Asp2840Glu)
n.7871C>G
c.8529C>G (p.Asp2843Glu)
c.8406C>G (p.Asp2802Glu)
c.6012C>G (p.Asp2004Glu)
c.8625C>G (p.Asp2875Glu)
c.6435C>G (p.Asp2145Glu)
c.6111C>G (p.Asp2037Glu)
dbSNP
11g.118504421C>TCA6304510KMT2Ac.8628C>T (p.Asp2876=)
c.8619C>T (p.Asp2873=)
c.2568C>T (p.Asp856=)
c.2826C>T (p.Asp942=)
c.8601C>T (p.Asp2867=)
c.8520C>T (p.Asp2840=)
n.7871C>T
c.8529C>T (p.Asp2843=)
c.8406C>T (p.Asp2802=)
c.6012C>T (p.Asp2004=)
c.8625C>T (p.Asp2875=)
c.6435C>T (p.Asp2145=)
c.6111C>T (p.Asp2037=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118504422T>ACA382814530KMT2Ac.8629T>A (p.Cys2877Ser)
c.8620T>A (p.Cys2874Ser)
c.2569T>A (p.Cys857Ser)
c.2827T>A (p.Cys943Ser)
c.8602T>A (p.Cys2868Ser)
c.8521T>A (p.Cys2841Ser)
n.7872T>A
c.8530T>A (p.Cys2844Ser)
c.8407T>A (p.Cys2803Ser)
c.6013T>A (p.Cys2005Ser)
c.8626T>A (p.Cys2876Ser)
c.6436T>A (p.Cys2146Ser)
c.6112T>A (p.Cys2038Ser)
11g.118504422T>CCA382814524KMT2Ac.8629T>C (p.Cys2877Arg)
c.8620T>C (p.Cys2874Arg)
c.2569T>C (p.Cys857Arg)
c.2827T>C (p.Cys943Arg)
c.8602T>C (p.Cys2868Arg)
c.8521T>C (p.Cys2841Arg)
n.7872T>C
c.8530T>C (p.Cys2844Arg)
c.8407T>C (p.Cys2803Arg)
c.6013T>C (p.Cys2005Arg)
c.8626T>C (p.Cys2876Arg)
c.6436T>C (p.Cys2146Arg)
c.6112T>C (p.Cys2038Arg)
11g.118504422T>GCA382814527KMT2Ac.8629T>G (p.Cys2877Gly)
c.8620T>G (p.Cys2874Gly)
c.2569T>G (p.Cys857Gly)
c.2827T>G (p.Cys943Gly)
c.8602T>G (p.Cys2868Gly)
c.8521T>G (p.Cys2841Gly)
n.7872T>G
c.8530T>G (p.Cys2844Gly)
c.8407T>G (p.Cys2803Gly)
c.6013T>G (p.Cys2005Gly)
c.8626T>G (p.Cys2876Gly)
c.6436T>G (p.Cys2146Gly)
c.6112T>G (p.Cys2038Gly)
11g.118504424_118504425delCA2695215555KMT2Ac.8631_8632del (p.Cys2877TrpfsTer24)
c.8622_8623del (p.Cys2874TrpfsTer24)
c.2571_2572del (p.Cys857TrpfsTer24)
c.2829_2830del (p.Cys943TrpfsTer24)
c.8604_8605del (p.Cys2868TrpfsTer24)
c.8523_8524del (p.Cys2841TrpfsTer24)
n.7874_7875del
c.8532_8533del (p.Cys2844TrpfsTer24)
c.8409_8410del (p.Cys2803TrpfsTer24)
c.6015_6016del (p.Cys2005TrpfsTer24)
c.8628_8629del (p.Cys2876TrpfsTer24)
c.6438_6439del (p.Cys2146TrpfsTer24)
c.6114_6115del (p.Cys2038TrpfsTer24)
11g.118504423G>ACA382814534KMT2Ac.8630G>A (p.Cys2877Tyr)
c.8621G>A (p.Cys2874Tyr)
c.2570G>A (p.Cys857Tyr)
c.2828G>A (p.Cys943Tyr)
c.8603G>A (p.Cys2868Tyr)
c.8522G>A (p.Cys2841Tyr)
n.7873G>A
c.8531G>A (p.Cys2844Tyr)
c.8408G>A (p.Cys2803Tyr)
c.6014G>A (p.Cys2005Tyr)
c.8627G>A (p.Cys2876Tyr)
c.6437G>A (p.Cys2146Tyr)
c.6113G>A (p.Cys2038Tyr)
dbSNP gnomAD v2 gnomAD v4
11g.118504423G>CCA382814537KMT2Ac.8630G>C (p.Cys2877Ser)
c.8621G>C (p.Cys2874Ser)
c.2570G>C (p.Cys857Ser)
c.2828G>C (p.Cys943Ser)
c.8603G>C (p.Cys2868Ser)
c.8522G>C (p.Cys2841Ser)
n.7873G>C
c.8531G>C (p.Cys2844Ser)
c.8408G>C (p.Cys2803Ser)
c.6014G>C (p.Cys2005Ser)
c.8627G>C (p.Cys2876Ser)
c.6437G>C (p.Cys2146Ser)
c.6113G>C (p.Cys2038Ser)
dbSNP
11g.118504423G=CA2003528914KMT2Ac.8630G= (p.Cys2877=)
c.8621G= (p.Cys2874=)
c.2570G= (p.Cys857=)
c.2828G= (p.Cys943=)
c.8603G= (p.Cys2868=)
c.8522G= (p.Cys2841=)
n.7873G=
c.8531G= (p.Cys2844=)
c.8408G= (p.Cys2803=)
c.6014G= (p.Cys2005=)
c.8627G= (p.Cys2876=)
c.6437G= (p.Cys2146=)
c.6113G= (p.Cys2038=)
11g.118504423G>TCA382814541KMT2Ac.8630G>T (p.Cys2877Phe)
c.8621G>T (p.Cys2874Phe)
c.2570G>T (p.Cys857Phe)
c.2828G>T (p.Cys943Phe)
c.8603G>T (p.Cys2868Phe)
c.8522G>T (p.Cys2841Phe)
n.7873G>T
c.8531G>T (p.Cys2844Phe)
c.8408G>T (p.Cys2803Phe)
c.6014G>T (p.Cys2005Phe)
c.8627G>T (p.Cys2876Phe)
c.6437G>T (p.Cys2146Phe)
c.6113G>T (p.Cys2038Phe)
gnomAD v4
11g.118504424T>ACA382814544KMT2Ac.8631T>A (p.Cys2877Ter)
c.8622T>A (p.Cys2874Ter)
c.2571T>A (p.Cys857Ter)
c.2829T>A (p.Cys943Ter)
c.8604T>A (p.Cys2868Ter)
c.8523T>A (p.Cys2841Ter)
n.7874T>A
c.8532T>A (p.Cys2844Ter)
c.8409T>A (p.Cys2803Ter)
c.6015T>A (p.Cys2005Ter)
c.8628T>A (p.Cys2876Ter)
c.6438T>A (p.Cys2146Ter)
c.6114T>A (p.Cys2038Ter)
11g.118504424T>CCA477360483KMT2Ac.8631T>C (p.Cys2877=)
c.8622T>C (p.Cys2874=)
c.2571T>C (p.Cys857=)
c.2829T>C (p.Cys943=)
c.8604T>C (p.Cys2868=)
c.8523T>C (p.Cys2841=)
n.7874T>C
c.8532T>C (p.Cys2844=)
c.8409T>C (p.Cys2803=)
c.6015T>C (p.Cys2005=)
c.8628T>C (p.Cys2876=)
c.6438T>C (p.Cys2146=)
c.6114T>C (p.Cys2038=)
11g.118504424T>GCA382814546KMT2Ac.8631T>G (p.Cys2877Trp)
c.8622T>G (p.Cys2874Trp)
c.2571T>G (p.Cys857Trp)
c.2829T>G (p.Cys943Trp)
c.8604T>G (p.Cys2868Trp)
c.8523T>G (p.Cys2841Trp)
n.7874T>G
c.8532T>G (p.Cys2844Trp)
c.8409T>G (p.Cys2803Trp)
c.6015T>G (p.Cys2005Trp)
c.8628T>G (p.Cys2876Trp)
c.6438T>G (p.Cys2146Trp)
c.6114T>G (p.Cys2038Trp)
11g.118504425G>ACA382814551KMT2Ac.8632G>A (p.Gly2878Arg)
c.8623G>A (p.Gly2875Arg)
c.2572G>A (p.Gly858Arg)
c.2830G>A (p.Gly944Arg)
c.8605G>A (p.Gly2869Arg)
c.8524G>A (p.Gly2842Arg)
n.7875G>A
c.8533G>A (p.Gly2845Arg)
c.8410G>A (p.Gly2804Arg)
c.6016G>A (p.Gly2006Arg)
c.8629G>A (p.Gly2877Arg)
c.6439G>A (p.Gly2147Arg)
c.6115G>A (p.Gly2039Arg)
11g.118504425G>CCA382814557KMT2Ac.8632G>C (p.Gly2878Arg)
c.8623G>C (p.Gly2875Arg)
c.2572G>C (p.Gly858Arg)
c.2830G>C (p.Gly944Arg)
c.8605G>C (p.Gly2869Arg)
c.8524G>C (p.Gly2842Arg)
n.7875G>C
c.8533G>C (p.Gly2845Arg)
c.8410G>C (p.Gly2804Arg)
c.6016G>C (p.Gly2006Arg)
c.8629G>C (p.Gly2877Arg)
c.6439G>C (p.Gly2147Arg)
c.6115G>C (p.Gly2039Arg)
11g.118504425G>TCA382814554KMT2Ac.8632G>T (p.Gly2878Trp)
c.8623G>T (p.Gly2875Trp)
c.2572G>T (p.Gly858Trp)
c.2830G>T (p.Gly944Trp)
c.8605G>T (p.Gly2869Trp)
c.8524G>T (p.Gly2842Trp)
n.7875G>T
c.8533G>T (p.Gly2845Trp)
c.8410G>T (p.Gly2804Trp)
c.6016G>T (p.Gly2006Trp)
c.8629G>T (p.Gly2877Trp)
c.6439G>T (p.Gly2147Trp)
c.6115G>T (p.Gly2039Trp)
11g.118504427delCA2739291576KMT2Ac.8634del (p.Asn2879IlefsTer12)
c.8625del (p.Asn2876IlefsTer12)
c.2574del (p.Asn859IlefsTer12)
c.2832del (p.Asn945IlefsTer12)
c.8607del (p.Asn2870IlefsTer12)
c.8526del (p.Asn2843IlefsTer12)
n.7877del
c.8535del (p.Asn2846IlefsTer12)
c.8412del (p.Asn2805IlefsTer12)
c.6018del (p.Asn2007IlefsTer12)
c.8631del (p.Asn2878IlefsTer12)
c.6441del (p.Asn2148IlefsTer12)
c.6117del (p.Asn2040IlefsTer12)
11g.118504426G>ACA382814559KMT2Ac.8633G>A (p.Gly2878Glu)
c.8624G>A (p.Gly2875Glu)
c.2573G>A (p.Gly858Glu)
c.2831G>A (p.Gly944Glu)
c.8606G>A (p.Gly2869Glu)
c.8525G>A (p.Gly2842Glu)
n.7876G>A
c.8534G>A (p.Gly2845Glu)
c.8411G>A (p.Gly2804Glu)
c.6017G>A (p.Gly2006Glu)
c.8630G>A (p.Gly2877Glu)
c.6440G>A (p.Gly2147Glu)
c.6116G>A (p.Gly2039Glu)
11g.118504426G>CCA382814561KMT2Ac.8633G>C (p.Gly2878Ala)
c.8624G>C (p.Gly2875Ala)
c.2573G>C (p.Gly858Ala)
c.2831G>C (p.Gly944Ala)
c.8606G>C (p.Gly2869Ala)
c.8525G>C (p.Gly2842Ala)
n.7876G>C
c.8534G>C (p.Gly2845Ala)
c.8411G>C (p.Gly2804Ala)
c.6017G>C (p.Gly2006Ala)
c.8630G>C (p.Gly2877Ala)
c.6440G>C (p.Gly2147Ala)
c.6116G>C (p.Gly2039Ala)
11g.118504426G>TCA382814563KMT2Ac.8633G>T (p.Gly2878Val)
c.8624G>T (p.Gly2875Val)
c.2573G>T (p.Gly858Val)
c.2831G>T (p.Gly944Val)
c.8606G>T (p.Gly2869Val)
c.8525G>T (p.Gly2842Val)
n.7876G>T
c.8534G>T (p.Gly2845Val)
c.8411G>T (p.Gly2804Val)
c.6017G>T (p.Gly2006Val)
c.8630G>T (p.Gly2877Val)
c.6440G>T (p.Gly2147Val)
c.6116G>T (p.Gly2039Val)
11g.118504427G>ACA477359825KMT2Ac.8634G>A (p.Gly2878=)
c.8625G>A (p.Gly2875=)
c.2574G>A (p.Gly858=)
c.2832G>A (p.Gly944=)
c.8607G>A (p.Gly2869=)
c.8526G>A (p.Gly2842=)
n.7877G>A
c.8535G>A (p.Gly2845=)
c.8412G>A (p.Gly2804=)
c.6018G>A (p.Gly2006=)
c.8631G>A (p.Gly2877=)
c.6441G>A (p.Gly2147=)
c.6117G>A (p.Gly2039=)
ClinVar dbSNP
11g.118504427G>CCA477359826KMT2Ac.8634G>C (p.Gly2878=)
c.8625G>C (p.Gly2875=)
c.2574G>C (p.Gly858=)
c.2832G>C (p.Gly944=)
c.8607G>C (p.Gly2869=)
c.8526G>C (p.Gly2842=)
n.7877G>C
c.8535G>C (p.Gly2845=)
c.8412G>C (p.Gly2804=)
c.6018G>C (p.Gly2006=)
c.8631G>C (p.Gly2877=)
c.6441G>C (p.Gly2147=)
c.6117G>C (p.Gly2039=)
ClinVar dbSNP
11g.118504427G=CA2003528916KMT2Ac.8634G= (p.Gly2878=)
c.8625G= (p.Gly2875=)
c.2574G= (p.Gly858=)
c.2832G= (p.Gly944=)
c.8607G= (p.Gly2869=)
c.8526G= (p.Gly2842=)
n.7877G=
c.8535G= (p.Gly2845=)
c.8412G= (p.Gly2804=)
c.6018G= (p.Gly2006=)
c.8631G= (p.Gly2877=)
c.6441G= (p.Gly2147=)
c.6117G= (p.Gly2039=)
11g.118504427G>TCA477359827KMT2Ac.8634G>T (p.Gly2878=)
c.8625G>T (p.Gly2875=)
c.2574G>T (p.Gly858=)
c.2832G>T (p.Gly944=)
c.8607G>T (p.Gly2869=)
c.8526G>T (p.Gly2842=)
n.7877G>T
c.8535G>T (p.Gly2845=)
c.8412G>T (p.Gly2804=)
c.6018G>T (p.Gly2006=)
c.8631G>T (p.Gly2877=)
c.6441G>T (p.Gly2147=)
c.6117G>T (p.Gly2039=)
11g.118504428A>CCA382814568KMT2Ac.8635A>C (p.Asn2879His)
c.8626A>C (p.Asn2876His)
c.2575A>C (p.Asn859His)
c.2833A>C (p.Asn945His)
c.8608A>C (p.Asn2870His)
c.8527A>C (p.Asn2843His)
n.7878A>C
c.8536A>C (p.Asn2846His)
c.8413A>C (p.Asn2805His)
c.6019A>C (p.Asn2007His)
c.8632A>C (p.Asn2878His)
c.6442A>C (p.Asn2148His)
c.6118A>C (p.Asn2040His)
11g.118504428A>GCA382814572KMT2Ac.8635A>G (p.Asn2879Asp)
c.8626A>G (p.Asn2876Asp)
c.2575A>G (p.Asn859Asp)
c.2833A>G (p.Asn945Asp)
c.8608A>G (p.Asn2870Asp)
c.8527A>G (p.Asn2843Asp)
n.7878A>G
c.8536A>G (p.Asn2846Asp)
c.8413A>G (p.Asn2805Asp)
c.6019A>G (p.Asn2007Asp)
c.8632A>G (p.Asn2878Asp)
c.6442A>G (p.Asn2148Asp)
c.6118A>G (p.Asn2040Asp)
11g.118504428A>TCA382814575KMT2Ac.8635A>T (p.Asn2879Tyr)
c.8626A>T (p.Asn2876Tyr)
c.2575A>T (p.Asn859Tyr)
c.2833A>T (p.Asn945Tyr)
c.8608A>T (p.Asn2870Tyr)
c.8527A>T (p.Asn2843Tyr)
n.7878A>T
c.8536A>T (p.Asn2846Tyr)
c.8413A>T (p.Asn2805Tyr)
c.6019A>T (p.Asn2007Tyr)
c.8632A>T (p.Asn2878Tyr)
c.6442A>T (p.Asn2148Tyr)
c.6118A>T (p.Asn2040Tyr)
11g.118504429A=CA2003528918KMT2Ac.8636A= (p.Asn2879=)
c.8627A= (p.Asn2876=)
c.2576A= (p.Asn859=)
c.2834A= (p.Asn945=)
c.8609A= (p.Asn2870=)
c.8528A= (p.Asn2843=)
n.7879A=
c.8537A= (p.Asn2846=)
c.8414A= (p.Asn2805=)
c.6020A= (p.Asn2007=)
c.8633A= (p.Asn2878=)
c.6443A= (p.Asn2148=)
c.6119A= (p.Asn2040=)
11g.118504429A>CCA6304511KMT2Ac.8636A>C (p.Asn2879Thr)
c.8627A>C (p.Asn2876Thr)
c.2576A>C (p.Asn859Thr)
c.2834A>C (p.Asn945Thr)
c.8609A>C (p.Asn2870Thr)
c.8528A>C (p.Asn2843Thr)
n.7879A>C
c.8537A>C (p.Asn2846Thr)
c.8414A>C (p.Asn2805Thr)
c.6020A>C (p.Asn2007Thr)
c.8633A>C (p.Asn2878Thr)
c.6443A>C (p.Asn2148Thr)
c.6119A>C (p.Asn2040Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118504429A>GCA382814579KMT2Ac.8636A>G (p.Asn2879Ser)
c.8627A>G (p.Asn2876Ser)
c.2576A>G (p.Asn859Ser)
c.2834A>G (p.Asn945Ser)
c.8609A>G (p.Asn2870Ser)
c.8528A>G (p.Asn2843Ser)
n.7879A>G
c.8537A>G (p.Asn2846Ser)
c.8414A>G (p.Asn2805Ser)
c.6020A>G (p.Asn2007Ser)
c.8633A>G (p.Asn2878Ser)
c.6443A>G (p.Asn2148Ser)
c.6119A>G (p.Asn2040Ser)
11g.118504429A>TCA382814580KMT2Ac.8636A>T (p.Asn2879Ile)
c.8627A>T (p.Asn2876Ile)
c.2576A>T (p.Asn859Ile)
c.2834A>T (p.Asn945Ile)
c.8609A>T (p.Asn2870Ile)
c.8528A>T (p.Asn2843Ile)
n.7879A>T
c.8537A>T (p.Asn2846Ile)
c.8414A>T (p.Asn2805Ile)
c.6020A>T (p.Asn2007Ile)
c.8633A>T (p.Asn2878Ile)
c.6443A>T (p.Asn2148Ile)
c.6119A>T (p.Asn2040Ile)
11g.118504430T>ACA382814581KMT2Ac.8637T>A (p.Asn2879Lys)
c.8628T>A (p.Asn2876Lys)
c.2577T>A (p.Asn859Lys)
c.2835T>A (p.Asn945Lys)
c.8610T>A (p.Asn2870Lys)
c.8529T>A (p.Asn2843Lys)
n.7880T>A
c.8538T>A (p.Asn2846Lys)
c.8415T>A (p.Asn2805Lys)
c.6021T>A (p.Asn2007Lys)
c.8634T>A (p.Asn2878Lys)
c.6444T>A (p.Asn2148Lys)
c.6120T>A (p.Asn2040Lys)
11g.118504430T>CCA477359836KMT2Ac.8637T>C (p.Asn2879=)
c.8628T>C (p.Asn2876=)
c.2577T>C (p.Asn859=)
c.2835T>C (p.Asn945=)
c.8610T>C (p.Asn2870=)
c.8529T>C (p.Asn2843=)
n.7880T>C
c.8538T>C (p.Asn2846=)
c.8415T>C (p.Asn2805=)
c.6021T>C (p.Asn2007=)
c.8634T>C (p.Asn2878=)
c.6444T>C (p.Asn2148=)
c.6120T>C (p.Asn2040=)
11g.118504430T>GCA382814582KMT2Ac.8637T>G (p.Asn2879Lys)
c.8628T>G (p.Asn2876Lys)
c.2577T>G (p.Asn859Lys)
c.2835T>G (p.Asn945Lys)
c.8610T>G (p.Asn2870Lys)
c.8529T>G (p.Asn2843Lys)
n.7880T>G
c.8538T>G (p.Asn2846Lys)
c.8415T>G (p.Asn2805Lys)
c.6021T>G (p.Asn2007Lys)
c.8634T>G (p.Asn2878Lys)
c.6444T>G (p.Asn2148Lys)
c.6120T>G (p.Asn2040Lys)
11g.118504431A>CCA382814584KMT2Ac.8638A>C (p.Ile2880Leu)
c.8629A>C (p.Ile2877Leu)
c.2578A>C (p.Ile860Leu)
c.2836A>C (p.Ile946Leu)
c.8611A>C (p.Ile2871Leu)
c.8530A>C (p.Ile2844Leu)
n.7881A>C
c.8539A>C (p.Ile2847Leu)
c.8416A>C (p.Ile2806Leu)
c.6022A>C (p.Ile2008Leu)
c.8635A>C (p.Ile2879Leu)
c.6445A>C (p.Ile2149Leu)
c.6121A>C (p.Ile2041Leu)
11g.118504431A>GCA382814590KMT2Ac.8638A>G (p.Ile2880Val)
c.8629A>G (p.Ile2877Val)
c.2578A>G (p.Ile860Val)
c.2836A>G (p.Ile946Val)
c.8611A>G (p.Ile2871Val)
c.8530A>G (p.Ile2844Val)
n.7881A>G
c.8539A>G (p.Ile2847Val)
c.8416A>G (p.Ile2806Val)
c.6022A>G (p.Ile2008Val)
c.8635A>G (p.Ile2879Val)
c.6445A>G (p.Ile2149Val)
c.6121A>G (p.Ile2041Val)
11g.118504431A>TCA382814587KMT2Ac.8638A>T (p.Ile2880Phe)
c.8629A>T (p.Ile2877Phe)
c.2578A>T (p.Ile860Phe)
c.2836A>T (p.Ile946Phe)
c.8611A>T (p.Ile2871Phe)
c.8530A>T (p.Ile2844Phe)
n.7881A>T
c.8539A>T (p.Ile2847Phe)
c.8416A>T (p.Ile2806Phe)
c.6022A>T (p.Ile2008Phe)
c.8635A>T (p.Ile2879Phe)
c.6445A>T (p.Ile2149Phe)
c.6121A>T (p.Ile2041Phe)
11g.118504432T>ACA382814594KMT2Ac.8639T>A (p.Ile2880Asn)
c.8630T>A (p.Ile2877Asn)
c.2579T>A (p.Ile860Asn)
c.2837T>A (p.Ile946Asn)
c.8612T>A (p.Ile2871Asn)
c.8531T>A (p.Ile2844Asn)
n.7882T>A
c.8540T>A (p.Ile2847Asn)
c.8417T>A (p.Ile2806Asn)
c.6023T>A (p.Ile2008Asn)
c.8636T>A (p.Ile2879Asn)
c.6446T>A (p.Ile2149Asn)
c.6122T>A (p.Ile2041Asn)
11g.118504432T>CCA382814600KMT2Ac.8639T>C (p.Ile2880Thr)
c.8630T>C (p.Ile2877Thr)
c.2579T>C (p.Ile860Thr)
c.2837T>C (p.Ile946Thr)
c.8612T>C (p.Ile2871Thr)
c.8531T>C (p.Ile2844Thr)
n.7882T>C
c.8540T>C (p.Ile2847Thr)
c.8417T>C (p.Ile2806Thr)
c.6023T>C (p.Ile2008Thr)
c.8636T>C (p.Ile2879Thr)
c.6446T>C (p.Ile2149Thr)
c.6122T>C (p.Ile2041Thr)
11g.118504432T>GCA382814598KMT2Ac.8639T>G (p.Ile2880Ser)
c.8630T>G (p.Ile2877Ser)
c.2579T>G (p.Ile860Ser)
c.2837T>G (p.Ile946Ser)
c.8612T>G (p.Ile2871Ser)
c.8531T>G (p.Ile2844Ser)
n.7882T>G
c.8540T>G (p.Ile2847Ser)
c.8417T>G (p.Ile2806Ser)
c.6023T>G (p.Ile2008Ser)
c.8636T>G (p.Ile2879Ser)
c.6446T>G (p.Ile2149Ser)
c.6122T>G (p.Ile2041Ser)
11g.118504433C>ACA477359845KMT2Ac.8640C>A (p.Ile2880=)
c.8631C>A (p.Ile2877=)
c.2580C>A (p.Ile860=)
c.2838C>A (p.Ile946=)
c.8613C>A (p.Ile2871=)
c.8532C>A (p.Ile2844=)
n.7883C>A
c.8541C>A (p.Ile2847=)
c.8418C>A (p.Ile2806=)
c.6024C>A (p.Ile2008=)
c.8637C>A (p.Ile2879=)
c.6447C>A (p.Ile2149=)
c.6123C>A (p.Ile2041=)
dbSNP
11g.118504433C=CA2003528920KMT2Ac.8640C= (p.Ile2880=)
c.8631C= (p.Ile2877=)
c.2580C= (p.Ile860=)
c.2838C= (p.Ile946=)
c.8613C= (p.Ile2871=)
c.8532C= (p.Ile2844=)
n.7883C=
c.8541C= (p.Ile2847=)
c.8418C= (p.Ile2806=)
c.6024C= (p.Ile2008=)
c.8637C= (p.Ile2879=)
c.6447C= (p.Ile2149=)
c.6123C= (p.Ile2041=)
11g.118504433C>GCA382814603KMT2Ac.8640C>G (p.Ile2880Met)
c.8631C>G (p.Ile2877Met)
c.2580C>G (p.Ile860Met)
c.2838C>G (p.Ile946Met)
c.8613C>G (p.Ile2871Met)
c.8532C>G (p.Ile2844Met)
n.7883C>G
c.8541C>G (p.Ile2847Met)
c.8418C>G (p.Ile2806Met)
c.6024C>G (p.Ile2008Met)
c.8637C>G (p.Ile2879Met)
c.6447C>G (p.Ile2149Met)
c.6123C>G (p.Ile2041Met)
11g.118504433C>TCA6304512KMT2Ac.8640C>T (p.Ile2880=)
c.8631C>T (p.Ile2877=)
c.2580C>T (p.Ile860=)
c.2838C>T (p.Ile946=)
c.8613C>T (p.Ile2871=)
c.8532C>T (p.Ile2844=)
n.7883C>T
c.8541C>T (p.Ile2847=)
c.8418C>T (p.Ile2806=)
c.6024C>T (p.Ile2008=)
c.8637C>T (p.Ile2879=)
c.6447C>T (p.Ile2149=)
c.6123C>T (p.Ile2041=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118504434C>ACA382814604KMT2Ac.8641C>A (p.Leu2881Met)
c.8632C>A (p.Leu2878Met)
c.2581C>A (p.Leu861Met)
c.2839C>A (p.Leu947Met)
c.8614C>A (p.Leu2872Met)
c.8533C>A (p.Leu2845Met)
n.7884C>A
c.8542C>A (p.Leu2848Met)
c.8419C>A (p.Leu2807Met)
c.6025C>A (p.Leu2009Met)
c.8638C>A (p.Leu2880Met)
c.6448C>A (p.Leu2150Met)
c.6124C>A (p.Leu2042Met)
11g.118504434C>GCA382814605KMT2Ac.8641C>G (p.Leu2881Val)
c.8632C>G (p.Leu2878Val)
c.2581C>G (p.Leu861Val)
c.2839C>G (p.Leu947Val)
c.8614C>G (p.Leu2872Val)
c.8533C>G (p.Leu2845Val)
n.7884C>G
c.8542C>G (p.Leu2848Val)
c.8419C>G (p.Leu2807Val)
c.6025C>G (p.Leu2009Val)
c.8638C>G (p.Leu2880Val)
c.6448C>G (p.Leu2150Val)
c.6124C>G (p.Leu2042Val)
11g.118504434C>TCA477359849KMT2Ac.8641C>T (p.Leu2881=)
c.8632C>T (p.Leu2878=)
c.2581C>T (p.Leu861=)
c.2839C>T (p.Leu947=)
c.8614C>T (p.Leu2872=)
c.8533C>T (p.Leu2845=)
n.7884C>T
c.8542C>T (p.Leu2848=)
c.8419C>T (p.Leu2807=)
c.6025C>T (p.Leu2009=)
c.8638C>T (p.Leu2880=)
c.6448C>T (p.Leu2150=)
c.6124C>T (p.Leu2042=)
gnomAD v4
11g.118504435T>ACA382814606KMT2Ac.8642T>A (p.Leu2881Gln)
c.8633T>A (p.Leu2878Gln)
c.2582T>A (p.Leu861Gln)
c.2840T>A (p.Leu947Gln)
c.8615T>A (p.Leu2872Gln)
c.8534T>A (p.Leu2845Gln)
n.7885T>A
c.8543T>A (p.Leu2848Gln)
c.8420T>A (p.Leu2807Gln)
c.6026T>A (p.Leu2009Gln)
c.8639T>A (p.Leu2880Gln)
c.6449T>A (p.Leu2150Gln)
c.6125T>A (p.Leu2042Gln)
11g.118504435T>CCA382814608KMT2Ac.8642T>C (p.Leu2881Pro)
c.8633T>C (p.Leu2878Pro)
c.2582T>C (p.Leu861Pro)
c.2840T>C (p.Leu947Pro)
c.8615T>C (p.Leu2872Pro)
c.8534T>C (p.Leu2845Pro)
n.7885T>C
c.8543T>C (p.Leu2848Pro)
c.8420T>C (p.Leu2807Pro)
c.6026T>C (p.Leu2009Pro)
c.8639T>C (p.Leu2880Pro)
c.6449T>C (p.Leu2150Pro)
c.6125T>C (p.Leu2042Pro)
ClinVar dbSNP
11g.118504435T>GCA382814610KMT2Ac.8642T>G (p.Leu2881Arg)
c.8633T>G (p.Leu2878Arg)
c.2582T>G (p.Leu861Arg)
c.2840T>G (p.Leu947Arg)
c.8615T>G (p.Leu2872Arg)
c.8534T>G (p.Leu2845Arg)
n.7885T>G
c.8543T>G (p.Leu2848Arg)
c.8420T>G (p.Leu2807Arg)
c.6026T>G (p.Leu2009Arg)
c.8639T>G (p.Leu2880Arg)
c.6449T>G (p.Leu2150Arg)
c.6125T>G (p.Leu2042Arg)
11g.118504435T=CA2003528922KMT2Ac.8642T= (p.Leu2881=)
c.8633T= (p.Leu2878=)
c.2582T= (p.Leu861=)
c.2840T= (p.Leu947=)
c.8615T= (p.Leu2872=)
c.8534T= (p.Leu2845=)
n.7885T=
c.8543T= (p.Leu2848=)
c.8420T= (p.Leu2807=)
c.6026T= (p.Leu2009=)
c.8639T= (p.Leu2880=)
c.6449T= (p.Leu2150=)
c.6125T= (p.Leu2042=)
11g.118504436G>ACA477359852KMT2Ac.8643G>A (p.Leu2881=)
c.8634G>A (p.Leu2878=)
c.2583G>A (p.Leu861=)
c.2841G>A (p.Leu947=)
c.8616G>A (p.Leu2872=)
c.8535G>A (p.Leu2845=)
n.7886G>A
c.8544G>A (p.Leu2848=)
c.8421G>A (p.Leu2807=)
c.6027G>A (p.Leu2009=)
c.8640G>A (p.Leu2880=)
c.6450G>A (p.Leu2150=)
c.6126G>A (p.Leu2042=)
dbSNP
11g.118504436G>CCA477359853KMT2Ac.8643G>C (p.Leu2881=)
c.8634G>C (p.Leu2878=)
c.2583G>C (p.Leu861=)
c.2841G>C (p.Leu947=)
c.8616G>C (p.Leu2872=)
c.8535G>C (p.Leu2845=)
n.7886G>C
c.8544G>C (p.Leu2848=)
c.8421G>C (p.Leu2807=)
c.6027G>C (p.Leu2009=)
c.8640G>C (p.Leu2880=)
c.6450G>C (p.Leu2150=)
c.6126G>C (p.Leu2042=)
dbSNP
11g.118504436G>TCA477359856KMT2Ac.8643G>T (p.Leu2881=)
c.8634G>T (p.Leu2878=)
c.2583G>T (p.Leu861=)
c.2841G>T (p.Leu947=)
c.8616G>T (p.Leu2872=)
c.8535G>T (p.Leu2845=)
n.7886G>T
c.8544G>T (p.Leu2848=)
c.8421G>T (p.Leu2807=)
c.6027G>T (p.Leu2009=)
c.8640G>T (p.Leu2880=)
c.6450G>T (p.Leu2150=)
c.6126G>T (p.Leu2042=)
11g.118504437C>ACA382814613KMT2Ac.8644C>A (p.Pro2882Thr)
c.8635C>A (p.Pro2879Thr)
c.2584C>A (p.Pro862Thr)
c.2842C>A (p.Pro948Thr)
c.8617C>A (p.Pro2873Thr)
c.8536C>A (p.Pro2846Thr)
n.7887C>A
c.8545C>A (p.Pro2849Thr)
c.8422C>A (p.Pro2808Thr)
c.6028C>A (p.Pro2010Thr)
c.8641C>A (p.Pro2881Thr)
c.6451C>A (p.Pro2151Thr)
c.6127C>A (p.Pro2043Thr)
11g.118504437C>GCA382814614KMT2Ac.8644C>G (p.Pro2882Ala)
c.8635C>G (p.Pro2879Ala)
c.2584C>G (p.Pro862Ala)
c.2842C>G (p.Pro948Ala)
c.8617C>G (p.Pro2873Ala)
c.8536C>G (p.Pro2846Ala)
n.7887C>G
c.8545C>G (p.Pro2849Ala)
c.8422C>G (p.Pro2808Ala)
c.6028C>G (p.Pro2010Ala)
c.8641C>G (p.Pro2881Ala)
c.6451C>G (p.Pro2151Ala)
c.6127C>G (p.Pro2043Ala)
11g.118504437C>TCA382814616KMT2Ac.8644C>T (p.Pro2882Ser)
c.8635C>T (p.Pro2879Ser)
c.2584C>T (p.Pro862Ser)
c.2842C>T (p.Pro948Ser)
c.8617C>T (p.Pro2873Ser)
c.8536C>T (p.Pro2846Ser)
n.7887C>T
c.8545C>T (p.Pro2849Ser)
c.8422C>T (p.Pro2808Ser)
c.6028C>T (p.Pro2010Ser)
c.8641C>T (p.Pro2881Ser)
c.6451C>T (p.Pro2151Ser)
c.6127C>T (p.Pro2043Ser)
11g.118504438C>ACA382814618KMT2Ac.8645C>A (p.Pro2882His)
c.8636C>A (p.Pro2879His)
c.2585C>A (p.Pro862His)
c.2843C>A (p.Pro948His)
c.8618C>A (p.Pro2873His)
c.8537C>A (p.Pro2846His)
n.7888C>A
c.8546C>A (p.Pro2849His)
c.8423C>A (p.Pro2808His)
c.6029C>A (p.Pro2010His)
c.8642C>A (p.Pro2881His)
c.6452C>A (p.Pro2151His)
c.6128C>A (p.Pro2043His)
COSMIC COSMIC
11g.118504438C>GCA382814621KMT2Ac.8645C>G (p.Pro2882Arg)
c.8636C>G (p.Pro2879Arg)
c.2585C>G (p.Pro862Arg)
c.2843C>G (p.Pro948Arg)
c.8618C>G (p.Pro2873Arg)
c.8537C>G (p.Pro2846Arg)
n.7888C>G
c.8546C>G (p.Pro2849Arg)
c.8423C>G (p.Pro2808Arg)
c.6029C>G (p.Pro2010Arg)
c.8642C>G (p.Pro2881Arg)
c.6452C>G (p.Pro2151Arg)
c.6128C>G (p.Pro2043Arg)
11g.118504438C>TCA382814624KMT2Ac.8645C>T (p.Pro2882Leu)
c.8636C>T (p.Pro2879Leu)
c.2585C>T (p.Pro862Leu)
c.2843C>T (p.Pro948Leu)
c.8618C>T (p.Pro2873Leu)
c.8537C>T (p.Pro2846Leu)
n.7888C>T
c.8546C>T (p.Pro2849Leu)
c.8423C>T (p.Pro2808Leu)
c.6029C>T (p.Pro2010Leu)
c.8642C>T (p.Pro2881Leu)
c.6452C>T (p.Pro2151Leu)
c.6128C>T (p.Pro2043Leu)
11g.118504439T>ACA477359859KMT2Ac.8646T>A (p.Pro2882=)
c.8637T>A (p.Pro2879=)
c.2586T>A (p.Pro862=)
c.2844T>A (p.Pro948=)
c.8619T>A (p.Pro2873=)
c.8538T>A (p.Pro2846=)
n.7889T>A
c.8547T>A (p.Pro2849=)
c.8424T>A (p.Pro2808=)
c.6030T>A (p.Pro2010=)
c.8643T>A (p.Pro2881=)
c.6453T>A (p.Pro2151=)
c.6129T>A (p.Pro2043=)
11g.118504439T>CCA477359861KMT2Ac.8646T>C (p.Pro2882=)
c.8637T>C (p.Pro2879=)
c.2586T>C (p.Pro862=)
c.2844T>C (p.Pro948=)
c.8619T>C (p.Pro2873=)
c.8538T>C (p.Pro2846=)
n.7889T>C
c.8547T>C (p.Pro2849=)
c.8424T>C (p.Pro2808=)
c.6030T>C (p.Pro2010=)
c.8643T>C (p.Pro2881=)
c.6453T>C (p.Pro2151=)
c.6129T>C (p.Pro2043=)
11g.118504439T>GCA477359858KMT2Ac.8646T>G (p.Pro2882=)
c.8637T>G (p.Pro2879=)
c.2586T>G (p.Pro862=)
c.2844T>G (p.Pro948=)
c.8619T>G (p.Pro2873=)
c.8538T>G (p.Pro2846=)
n.7889T>G
c.8547T>G (p.Pro2849=)
c.8424T>G (p.Pro2808=)
c.6030T>G (p.Pro2010=)
c.8643T>G (p.Pro2881=)
c.6453T>G (p.Pro2151=)
c.6129T>G (p.Pro2043=)
11g.118504440T>ACA382814631KMT2Ac.8647T>A (p.Ser2883Thr)
c.8638T>A (p.Ser2880Thr)
c.2587T>A (p.Ser863Thr)
c.2845T>A (p.Ser949Thr)
c.8620T>A (p.Ser2874Thr)
c.8539T>A (p.Ser2847Thr)
n.7890T>A
c.8548T>A (p.Ser2850Thr)
c.8425T>A (p.Ser2809Thr)
c.6031T>A (p.Ser2011Thr)
c.8644T>A (p.Ser2882Thr)
c.6454T>A (p.Ser2152Thr)
c.6130T>A (p.Ser2044Thr)
11g.118504440T>CCA382814629KMT2Ac.8647T>C (p.Ser2883Pro)
c.8638T>C (p.Ser2880Pro)
c.2587T>C (p.Ser863Pro)
c.2845T>C (p.Ser949Pro)
c.8620T>C (p.Ser2874Pro)
c.8539T>C (p.Ser2847Pro)
n.7890T>C
c.8548T>C (p.Ser2850Pro)
c.8425T>C (p.Ser2809Pro)
c.6031T>C (p.Ser2011Pro)
c.8644T>C (p.Ser2882Pro)
c.6454T>C (p.Ser2152Pro)
c.6130T>C (p.Ser2044Pro)
11g.118504440T>GCA382814627KMT2Ac.8647T>G (p.Ser2883Ala)
c.8638T>G (p.Ser2880Ala)
c.2587T>G (p.Ser863Ala)
c.2845T>G (p.Ser949Ala)
c.8620T>G (p.Ser2874Ala)
c.8539T>G (p.Ser2847Ala)
n.7890T>G
c.8548T>G (p.Ser2850Ala)
c.8425T>G (p.Ser2809Ala)
c.6031T>G (p.Ser2011Ala)
c.8644T>G (p.Ser2882Ala)
c.6454T>G (p.Ser2152Ala)
c.6130T>G (p.Ser2044Ala)
11g.118504441C>ACA382814635KMT2Ac.8648C>A (p.Ser2883Ter)
c.8639C>A (p.Ser2880Ter)
c.2588C>A (p.Ser863Ter)
c.2846C>A (p.Ser949Ter)
c.8621C>A (p.Ser2874Ter)
c.8540C>A (p.Ser2847Ter)
n.7891C>A
c.8549C>A (p.Ser2850Ter)
c.8426C>A (p.Ser2809Ter)
c.6032C>A (p.Ser2011Ter)
c.8645C>A (p.Ser2882Ter)
c.6455C>A (p.Ser2152Ter)
c.6131C>A (p.Ser2044Ter)
11g.118504441C>GCA382814638KMT2Ac.8648C>G (p.Ser2883Ter)
c.8639C>G (p.Ser2880Ter)
c.2588C>G (p.Ser863Ter)
c.2846C>G (p.Ser949Ter)
c.8621C>G (p.Ser2874Ter)
c.8540C>G (p.Ser2847Ter)
n.7891C>G
c.8549C>G (p.Ser2850Ter)
c.8426C>G (p.Ser2809Ter)
c.6032C>G (p.Ser2011Ter)
c.8645C>G (p.Ser2882Ter)
c.6455C>G (p.Ser2152Ter)
c.6131C>G (p.Ser2044Ter)
11g.118504441C>TCA382814639KMT2Ac.8648C>T (p.Ser2883Leu)
c.8639C>T (p.Ser2880Leu)
c.2588C>T (p.Ser863Leu)
c.2846C>T (p.Ser949Leu)
c.8621C>T (p.Ser2874Leu)
c.8540C>T (p.Ser2847Leu)
n.7891C>T
c.8549C>T (p.Ser2850Leu)
c.8426C>T (p.Ser2809Leu)
c.6032C>T (p.Ser2011Leu)
c.8645C>T (p.Ser2882Leu)
c.6455C>T (p.Ser2152Leu)
c.6131C>T (p.Ser2044Leu)
11g.118504442A=CA2003528925KMT2Ac.8649A= (p.Ser2883=)
c.8640A= (p.Ser2880=)
c.2589A= (p.Ser863=)
c.2847A= (p.Ser949=)
c.8622A= (p.Ser2874=)
c.8541A= (p.Ser2847=)
n.7892A=
c.8550A= (p.Ser2850=)
c.8427A= (p.Ser2809=)
c.6033A= (p.Ser2011=)
c.8646A= (p.Ser2882=)
c.6456A= (p.Ser2152=)
c.6132A= (p.Ser2044=)
11g.118504442A>CCA477359865KMT2Ac.8649A>C (p.Ser2883=)
c.8640A>C (p.Ser2880=)
c.2589A>C (p.Ser863=)
c.2847A>C (p.Ser949=)
c.8622A>C (p.Ser2874=)
c.8541A>C (p.Ser2847=)
n.7892A>C
c.8550A>C (p.Ser2850=)
c.8427A>C (p.Ser2809=)
c.6033A>C (p.Ser2011=)
c.8646A>C (p.Ser2882=)
c.6456A>C (p.Ser2152=)
c.6132A>C (p.Ser2044=)
11g.118504442A>GCA477359866KMT2Ac.8649A>G (p.Ser2883=)
c.8640A>G (p.Ser2880=)
c.2589A>G (p.Ser863=)
c.2847A>G (p.Ser949=)
c.8622A>G (p.Ser2874=)
c.8541A>G (p.Ser2847=)
n.7892A>G
c.8550A>G (p.Ser2850=)
c.8427A>G (p.Ser2809=)
c.6033A>G (p.Ser2011=)
c.8646A>G (p.Ser2882=)
c.6456A>G (p.Ser2152=)
c.6132A>G (p.Ser2044=)
11g.118504442A>TCA477359868KMT2Ac.8649A>T (p.Ser2883=)
c.8640A>T (p.Ser2880=)
c.2589A>T (p.Ser863=)
c.2847A>T (p.Ser949=)
c.8622A>T (p.Ser2874=)
c.8541A>T (p.Ser2847=)
n.7892A>T
c.8550A>T (p.Ser2850=)
c.8427A>T (p.Ser2809=)
c.6033A>T (p.Ser2011=)
c.8646A>T (p.Ser2882=)
c.6456A>T (p.Ser2152=)
c.6132A>T (p.Ser2044=)
dbSNP
11g.118504443G>ACA382814640KMT2Ac.8650G>A (p.Asp2884Asn)
c.8641G>A (p.Asp2881Asn)
c.2590G>A (p.Asp864Asn)
c.2848G>A (p.Asp950Asn)
c.8623G>A (p.Asp2875Asn)
c.8542G>A (p.Asp2848Asn)
n.7893G>A
c.8551G>A (p.Asp2851Asn)
c.8428G>A (p.Asp2810Asn)
c.6034G>A (p.Asp2012Asn)
c.8647G>A (p.Asp2883Asn)
c.6457G>A (p.Asp2153Asn)
c.6133G>A (p.Asp2045Asn)
11g.118504443G>CCA382814641KMT2Ac.8650G>C (p.Asp2884His)
c.8641G>C (p.Asp2881His)
c.2590G>C (p.Asp864His)
c.2848G>C (p.Asp950His)
c.8623G>C (p.Asp2875His)
c.8542G>C (p.Asp2848His)
n.7893G>C
c.8551G>C (p.Asp2851His)
c.8428G>C (p.Asp2810His)
c.6034G>C (p.Asp2012His)
c.8647G>C (p.Asp2883His)
c.6457G>C (p.Asp2153His)
c.6133G>C (p.Asp2045His)
dbSNP
11g.118504443G=CA2003528927KMT2Ac.8650G= (p.Asp2884=)
c.8641G= (p.Asp2881=)
c.2590G= (p.Asp864=)
c.2848G= (p.Asp950=)
c.8623G= (p.Asp2875=)
c.8542G= (p.Asp2848=)
n.7893G=
c.8551G= (p.Asp2851=)
c.8428G= (p.Asp2810=)
c.6034G= (p.Asp2012=)
c.8647G= (p.Asp2883=)
c.6457G= (p.Asp2153=)
c.6133G= (p.Asp2045=)
11g.118504443G>TCA382814642KMT2Ac.8650G>T (p.Asp2884Tyr)
c.8641G>T (p.Asp2881Tyr)
c.2590G>T (p.Asp864Tyr)
c.2848G>T (p.Asp950Tyr)
c.8623G>T (p.Asp2875Tyr)
c.8542G>T (p.Asp2848Tyr)
n.7893G>T
c.8551G>T (p.Asp2851Tyr)
c.8428G>T (p.Asp2810Tyr)
c.6034G>T (p.Asp2012Tyr)
c.8647G>T (p.Asp2883Tyr)
c.6457G>T (p.Asp2153Tyr)
c.6133G>T (p.Asp2045Tyr)
11g.118504444A=CA2003528929KMT2Ac.8651A= (p.Asp2884=)
c.8642A= (p.Asp2881=)
c.2591A= (p.Asp864=)
c.2849A= (p.Asp950=)
c.8624A= (p.Asp2875=)
c.8543A= (p.Asp2848=)
n.7894A=
c.8552A= (p.Asp2851=)
c.8429A= (p.Asp2810=)
c.6035A= (p.Asp2012=)
c.8648A= (p.Asp2883=)
c.6458A= (p.Asp2153=)
c.6134A= (p.Asp2045=)
11g.118504444A>CCA382814643KMT2Ac.8651A>C (p.Asp2884Ala)
c.8642A>C (p.Asp2881Ala)
c.2591A>C (p.Asp864Ala)
c.2849A>C (p.Asp950Ala)
c.8624A>C (p.Asp2875Ala)
c.8543A>C (p.Asp2848Ala)
n.7894A>C
c.8552A>C (p.Asp2851Ala)
c.8429A>C (p.Asp2810Ala)
c.6035A>C (p.Asp2012Ala)
c.8648A>C (p.Asp2883Ala)
c.6458A>C (p.Asp2153Ala)
c.6134A>C (p.Asp2045Ala)
dbSNP
11g.118504444A>GCA382814645KMT2Ac.8651A>G (p.Asp2884Gly)
c.8642A>G (p.Asp2881Gly)
c.2591A>G (p.Asp864Gly)
c.2849A>G (p.Asp950Gly)
c.8624A>G (p.Asp2875Gly)
c.8543A>G (p.Asp2848Gly)
n.7894A>G
c.8552A>G (p.Asp2851Gly)
c.8429A>G (p.Asp2810Gly)
c.6035A>G (p.Asp2012Gly)
c.8648A>G (p.Asp2883Gly)
c.6458A>G (p.Asp2153Gly)
c.6134A>G (p.Asp2045Gly)
11g.118504444A>TCA382814647KMT2Ac.8651A>T (p.Asp2884Val)
c.8642A>T (p.Asp2881Val)
c.2591A>T (p.Asp864Val)
c.2849A>T (p.Asp950Val)
c.8624A>T (p.Asp2875Val)
c.8543A>T (p.Asp2848Val)
n.7894A>T
c.8552A>T (p.Asp2851Val)
c.8429A>T (p.Asp2810Val)
c.6035A>T (p.Asp2012Val)
c.8648A>T (p.Asp2883Val)
c.6458A>T (p.Asp2153Val)
c.6134A>T (p.Asp2045Val)
11g.118504445C>ACA382814650KMT2Ac.8652C>A (p.Asp2884Glu)
c.8643C>A (p.Asp2881Glu)
c.2592C>A (p.Asp864Glu)
c.2850C>A (p.Asp950Glu)
c.8625C>A (p.Asp2875Glu)
c.8544C>A (p.Asp2848Glu)
n.7895C>A
c.8553C>A (p.Asp2851Glu)
c.8430C>A (p.Asp2810Glu)
c.6036C>A (p.Asp2012Glu)
c.8649C>A (p.Asp2883Glu)
c.6459C>A (p.Asp2153Glu)
c.6135C>A (p.Asp2045Glu)
11g.118504445C>GCA382814653KMT2Ac.8652C>G (p.Asp2884Glu)
c.8643C>G (p.Asp2881Glu)
c.2592C>G (p.Asp864Glu)
c.2850C>G (p.Asp950Glu)
c.8625C>G (p.Asp2875Glu)
c.8544C>G (p.Asp2848Glu)
n.7895C>G
c.8553C>G (p.Asp2851Glu)
c.8430C>G (p.Asp2810Glu)
c.6036C>G (p.Asp2012Glu)
c.8649C>G (p.Asp2883Glu)
c.6459C>G (p.Asp2153Glu)
c.6135C>G (p.Asp2045Glu)
11g.118504445C>TCA477359874KMT2Ac.8652C>T (p.Asp2884=)
c.8643C>T (p.Asp2881=)
c.2592C>T (p.Asp864=)
c.2850C>T (p.Asp950=)
c.8625C>T (p.Asp2875=)
c.8544C>T (p.Asp2848=)
n.7895C>T
c.8553C>T (p.Asp2851=)
c.8430C>T (p.Asp2810=)
c.6036C>T (p.Asp2012=)
c.8649C>T (p.Asp2883=)
c.6459C>T (p.Asp2153=)
c.6135C>T (p.Asp2045=)
dbSNP
11g.118504446A>CCA382814657KMT2Ac.8653A>C (p.Ile2885Leu)
c.8644A>C (p.Ile2882Leu)
c.2593A>C (p.Ile865Leu)
c.2851A>C (p.Ile951Leu)
c.8626A>C (p.Ile2876Leu)
c.8545A>C (p.Ile2849Leu)
n.7896A>C
c.8554A>C (p.Ile2852Leu)
c.8431A>C (p.Ile2811Leu)
c.6037A>C (p.Ile2013Leu)
c.8650A>C (p.Ile2884Leu)
c.6460A>C (p.Ile2154Leu)
c.6136A>C (p.Ile2046Leu)
11g.118504446A>GCA382814656KMT2Ac.8653A>G (p.Ile2885Val)
c.8644A>G (p.Ile2882Val)
c.2593A>G (p.Ile865Val)
c.2851A>G (p.Ile951Val)
c.8626A>G (p.Ile2876Val)
c.8545A>G (p.Ile2849Val)
n.7896A>G
c.8554A>G (p.Ile2852Val)
c.8431A>G (p.Ile2811Val)
c.6037A>G (p.Ile2013Val)
c.8650A>G (p.Ile2884Val)
c.6460A>G (p.Ile2154Val)
c.6136A>G (p.Ile2046Val)
11g.118504446A>TCA382814655KMT2Ac.8653A>T (p.Ile2885Phe)
c.8644A>T (p.Ile2882Phe)
c.2593A>T (p.Ile865Phe)
c.2851A>T (p.Ile951Phe)
c.8626A>T (p.Ile2876Phe)
c.8545A>T (p.Ile2849Phe)
n.7896A>T
c.8554A>T (p.Ile2852Phe)
c.8431A>T (p.Ile2811Phe)
c.6037A>T (p.Ile2013Phe)
c.8650A>T (p.Ile2884Phe)
c.6460A>T (p.Ile2154Phe)
c.6136A>T (p.Ile2046Phe)
11g.118504447T>ACA382814658KMT2Ac.8654T>A (p.Ile2885Asn)
c.8645T>A (p.Ile2882Asn)
c.2594T>A (p.Ile865Asn)
c.2852T>A (p.Ile951Asn)
c.8627T>A (p.Ile2876Asn)
c.8546T>A (p.Ile2849Asn)
n.7897T>A
c.8555T>A (p.Ile2852Asn)
c.8432T>A (p.Ile2811Asn)
c.6038T>A (p.Ile2013Asn)
c.8651T>A (p.Ile2884Asn)
c.6461T>A (p.Ile2154Asn)
c.6137T>A (p.Ile2046Asn)
11g.118504447T>CCA382814659KMT2Ac.8654T>C (p.Ile2885Thr)
c.8645T>C (p.Ile2882Thr)
c.2594T>C (p.Ile865Thr)
c.2852T>C (p.Ile951Thr)
c.8627T>C (p.Ile2876Thr)
c.8546T>C (p.Ile2849Thr)
n.7897T>C
c.8555T>C (p.Ile2852Thr)
c.8432T>C (p.Ile2811Thr)
c.6038T>C (p.Ile2013Thr)
c.8651T>C (p.Ile2884Thr)
c.6461T>C (p.Ile2154Thr)
c.6137T>C (p.Ile2046Thr)
11g.118504447T>GCA382814661KMT2Ac.8654T>G (p.Ile2885Ser)
c.8645T>G (p.Ile2882Ser)
c.2594T>G (p.Ile865Ser)
c.2852T>G (p.Ile951Ser)
c.8627T>G (p.Ile2876Ser)
c.8546T>G (p.Ile2849Ser)
n.7897T>G
c.8555T>G (p.Ile2852Ser)
c.8432T>G (p.Ile2811Ser)
c.6038T>G (p.Ile2013Ser)
c.8651T>G (p.Ile2884Ser)
c.6461T>G (p.Ile2154Ser)
c.6137T>G (p.Ile2046Ser)
11g.118504448T>ACA477359879KMT2Ac.8655T>A (p.Ile2885=)
c.8646T>A (p.Ile2882=)
c.2595T>A (p.Ile865=)
c.2853T>A (p.Ile951=)
c.8628T>A (p.Ile2876=)
c.8547T>A (p.Ile2849=)
n.7898T>A
c.8556T>A (p.Ile2852=)
c.8433T>A (p.Ile2811=)
c.6039T>A (p.Ile2013=)
c.8652T>A (p.Ile2884=)
c.6462T>A (p.Ile2154=)
c.6138T>A (p.Ile2046=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118504448T>CCA477359881KMT2Ac.8655T>C (p.Ile2885=)
c.8646T>C (p.Ile2882=)
c.2595T>C (p.Ile865=)
c.2853T>C (p.Ile951=)
c.8628T>C (p.Ile2876=)
c.8547T>C (p.Ile2849=)
n.7898T>C
c.8556T>C (p.Ile2852=)
c.8433T>C (p.Ile2811=)
c.6039T>C (p.Ile2013=)
c.8652T>C (p.Ile2884=)
c.6462T>C (p.Ile2154=)
c.6138T>C (p.Ile2046=)
11g.118504448T>GCA382814664KMT2Ac.8655T>G (p.Ile2885Met)
c.8646T>G (p.Ile2882Met)
c.2595T>G (p.Ile865Met)
c.2853T>G (p.Ile951Met)
c.8628T>G (p.Ile2876Met)
c.8547T>G (p.Ile2849Met)
n.7898T>G
c.8556T>G (p.Ile2852Met)
c.8433T>G (p.Ile2811Met)
c.6039T>G (p.Ile2013Met)
c.8652T>G (p.Ile2884Met)
c.6462T>G (p.Ile2154Met)
c.6138T>G (p.Ile2046Met)
11g.118504448T=CA2003528931KMT2Ac.8655T= (p.Ile2885=)
c.8646T= (p.Ile2882=)
c.2595T= (p.Ile865=)
c.2853T= (p.Ile951=)
c.8628T= (p.Ile2876=)
c.8547T= (p.Ile2849=)
n.7898T=
c.8556T= (p.Ile2852=)
c.8433T= (p.Ile2811=)
c.6039T= (p.Ile2013=)
c.8652T= (p.Ile2884=)
c.6462T= (p.Ile2154=)
c.6138T= (p.Ile2046=)
11g.118504449A>CCA382814669KMT2Ac.8656A>C (p.Met2886Leu)
c.8647A>C (p.Met2883Leu)
c.2596A>C (p.Met866Leu)
c.2854A>C (p.Met952Leu)
c.8629A>C (p.Met2877Leu)
c.8548A>C (p.Met2850Leu)
n.7899A>C
c.8557A>C (p.Met2853Leu)
c.8434A>C (p.Met2812Leu)
c.6040A>C (p.Met2014Leu)
c.8653A>C (p.Met2885Leu)
c.6463A>C (p.Met2155Leu)
c.6139A>C (p.Met2047Leu)
11g.118504449A>GCA382814671KMT2Ac.8656A>G (p.Met2886Val)
c.8647A>G (p.Met2883Val)
c.2596A>G (p.Met866Val)
c.2854A>G (p.Met952Val)
c.8629A>G (p.Met2877Val)
c.8548A>G (p.Met2850Val)
n.7899A>G
c.8557A>G (p.Met2853Val)
c.8434A>G (p.Met2812Val)
c.6040A>G (p.Met2014Val)
c.8653A>G (p.Met2885Val)
c.6463A>G (p.Met2155Val)
c.6139A>G (p.Met2047Val)
11g.118504449A>TCA382814674KMT2Ac.8656A>T (p.Met2886Leu)
c.8647A>T (p.Met2883Leu)
c.2596A>T (p.Met866Leu)
c.2854A>T (p.Met952Leu)
c.8629A>T (p.Met2877Leu)
c.8548A>T (p.Met2850Leu)
n.7899A>T
c.8557A>T (p.Met2853Leu)
c.8434A>T (p.Met2812Leu)
c.6040A>T (p.Met2014Leu)
c.8653A>T (p.Met2885Leu)
c.6463A>T (p.Met2155Leu)
c.6139A>T (p.Met2047Leu)
11g.118504450T>ACA382814678KMT2Ac.8657T>A (p.Met2886Lys)
c.8648T>A (p.Met2883Lys)
c.2597T>A (p.Met866Lys)
c.2855T>A (p.Met952Lys)
c.8630T>A (p.Met2877Lys)
c.8549T>A (p.Met2850Lys)
n.7900T>A
c.8558T>A (p.Met2853Lys)
c.8435T>A (p.Met2812Lys)
c.6041T>A (p.Met2014Lys)
c.8654T>A (p.Met2885Lys)
c.6464T>A (p.Met2155Lys)
c.6140T>A (p.Met2047Lys)
11g.118504450T>CCA382814684KMT2Ac.8657T>C (p.Met2886Thr)
c.8648T>C (p.Met2883Thr)
c.2597T>C (p.Met866Thr)
c.2855T>C (p.Met952Thr)
c.8630T>C (p.Met2877Thr)
c.8549T>C (p.Met2850Thr)
n.7900T>C
c.8558T>C (p.Met2853Thr)
c.8435T>C (p.Met2812Thr)
c.6041T>C (p.Met2014Thr)
c.8654T>C (p.Met2885Thr)
c.6464T>C (p.Met2155Thr)
c.6140T>C (p.Met2047Thr)
11g.118504450T>GCA382814685KMT2Ac.8657T>G (p.Met2886Arg)
c.8648T>G (p.Met2883Arg)
c.2597T>G (p.Met866Arg)
c.2855T>G (p.Met952Arg)
c.8630T>G (p.Met2877Arg)
c.8549T>G (p.Met2850Arg)
n.7900T>G
c.8558T>G (p.Met2853Arg)
c.8435T>G (p.Met2812Arg)
c.6041T>G (p.Met2014Arg)
c.8654T>G (p.Met2885Arg)
c.6464T>G (p.Met2155Arg)
c.6140T>G (p.Met2047Arg)
11g.118504451G>ACA382814690KMT2Ac.8658G>A (p.Met2886Ile)
c.8649G>A (p.Met2883Ile)
c.2598G>A (p.Met866Ile)
c.2856G>A (p.Met952Ile)
c.8631G>A (p.Met2877Ile)
c.8550G>A (p.Met2850Ile)
n.7901G>A
c.8559G>A (p.Met2853Ile)
c.8436G>A (p.Met2812Ile)
c.6042G>A (p.Met2014Ile)
c.8655G>A (p.Met2885Ile)
c.6465G>A (p.Met2155Ile)
c.6141G>A (p.Met2047Ile)
11g.118504451G>CCA382814691KMT2Ac.8658G>C (p.Met2886Ile)
c.8649G>C (p.Met2883Ile)
c.2598G>C (p.Met866Ile)
c.2856G>C (p.Met952Ile)
c.8631G>C (p.Met2877Ile)
c.8550G>C (p.Met2850Ile)
n.7901G>C
c.8559G>C (p.Met2853Ile)
c.8436G>C (p.Met2812Ile)
c.6042G>C (p.Met2014Ile)
c.8655G>C (p.Met2885Ile)
c.6465G>C (p.Met2155Ile)
c.6141G>C (p.Met2047Ile)
11g.118504451G>TCA382814692KMT2Ac.8658G>T (p.Met2886Ile)
c.8649G>T (p.Met2883Ile)
c.2598G>T (p.Met866Ile)
c.2856G>T (p.Met952Ile)
c.8631G>T (p.Met2877Ile)
c.8550G>T (p.Met2850Ile)
n.7901G>T
c.8559G>T (p.Met2853Ile)
c.8436G>T (p.Met2812Ile)
c.6042G>T (p.Met2014Ile)
c.8655G>T (p.Met2885Ile)
c.6465G>T (p.Met2155Ile)
c.6141G>T (p.Met2047Ile)
11g.118504452G>ACA382814693KMT2Ac.8659G>A (p.Asp2887Asn)
c.8650G>A (p.Asp2884Asn)
c.2599G>A (p.Asp867Asn)
c.2857G>A (p.Asp953Asn)
c.8632G>A (p.Asp2878Asn)
c.8551G>A (p.Asp2851Asn)
n.7902G>A
c.8560G>A (p.Asp2854Asn)
c.8437G>A (p.Asp2813Asn)
c.6043G>A (p.Asp2015Asn)
c.8656G>A (p.Asp2886Asn)
c.6466G>A (p.Asp2156Asn)
c.6142G>A (p.Asp2048Asn)
11g.118504452G>CCA382814695KMT2Ac.8659G>C (p.Asp2887His)
c.8650G>C (p.Asp2884His)
c.2599G>C (p.Asp867His)
c.2857G>C (p.Asp953His)
c.8632G>C (p.Asp2878His)
c.8551G>C (p.Asp2851His)
n.7902G>C
c.8560G>C (p.Asp2854His)
c.8437G>C (p.Asp2813His)
c.6043G>C (p.Asp2015His)
c.8656G>C (p.Asp2886His)
c.6466G>C (p.Asp2156His)
c.6142G>C (p.Asp2048His)
dbSNP
11g.118504452G>TCA382814694KMT2Ac.8659G>T (p.Asp2887Tyr)
c.8650G>T (p.Asp2884Tyr)
c.2599G>T (p.Asp867Tyr)
c.2857G>T (p.Asp953Tyr)
c.8632G>T (p.Asp2878Tyr)
c.8551G>T (p.Asp2851Tyr)
n.7902G>T
c.8560G>T (p.Asp2854Tyr)
c.8437G>T (p.Asp2813Tyr)
c.6043G>T (p.Asp2015Tyr)
c.8656G>T (p.Asp2886Tyr)
c.6466G>T (p.Asp2156Tyr)
c.6142G>T (p.Asp2048Tyr)
11g.118504453A>CCA382814699KMT2Ac.8660A>C (p.Asp2887Ala)
c.8651A>C (p.Asp2884Ala)
c.2600A>C (p.Asp867Ala)
c.2858A>C (p.Asp953Ala)
c.8633A>C (p.Asp2878Ala)
c.8552A>C (p.Asp2851Ala)
n.7903A>C
c.8561A>C (p.Asp2854Ala)
c.8438A>C (p.Asp2813Ala)
c.6044A>C (p.Asp2015Ala)
c.8657A>C (p.Asp2886Ala)
c.6467A>C (p.Asp2156Ala)
c.6143A>C (p.Asp2048Ala)
11g.118504453A>GCA382814702KMT2Ac.8660A>G (p.Asp2887Gly)
c.8651A>G (p.Asp2884Gly)
c.2600A>G (p.Asp867Gly)
c.2858A>G (p.Asp953Gly)
c.8633A>G (p.Asp2878Gly)
c.8552A>G (p.Asp2851Gly)
n.7903A>G
c.8561A>G (p.Asp2854Gly)
c.8438A>G (p.Asp2813Gly)
c.6044A>G (p.Asp2015Gly)
c.8657A>G (p.Asp2886Gly)
c.6467A>G (p.Asp2156Gly)
c.6143A>G (p.Asp2048Gly)
11g.118504453A>TCA382814703KMT2Ac.8660A>T (p.Asp2887Val)
c.8651A>T (p.Asp2884Val)
c.2600A>T (p.Asp867Val)
c.2858A>T (p.Asp953Val)
c.8633A>T (p.Asp2878Val)
c.8552A>T (p.Asp2851Val)
n.7903A>T
c.8561A>T (p.Asp2854Val)
c.8438A>T (p.Asp2813Val)
c.6044A>T (p.Asp2015Val)
c.8657A>T (p.Asp2886Val)
c.6467A>T (p.Asp2156Val)
c.6143A>T (p.Asp2048Val)
dbSNP
11g.118504454C>ACA382814708KMT2Ac.8661C>A (p.Asp2887Glu)
c.8652C>A (p.Asp2884Glu)
c.2601C>A (p.Asp867Glu)
c.2859C>A (p.Asp953Glu)
c.8634C>A (p.Asp2878Glu)
c.8553C>A (p.Asp2851Glu)
n.7904C>A
c.8562C>A (p.Asp2854Glu)
c.8439C>A (p.Asp2813Glu)
c.6045C>A (p.Asp2015Glu)
c.8658C>A (p.Asp2886Glu)
c.6468C>A (p.Asp2156Glu)
c.6144C>A (p.Asp2048Glu)
11g.118504454C>GCA382814710KMT2Ac.8661C>G (p.Asp2887Glu)
c.8652C>G (p.Asp2884Glu)
c.2601C>G (p.Asp867Glu)
c.2859C>G (p.Asp953Glu)
c.8634C>G (p.Asp2878Glu)
c.8553C>G (p.Asp2851Glu)
n.7904C>G
c.8562C>G (p.Asp2854Glu)
c.8439C>G (p.Asp2813Glu)
c.6045C>G (p.Asp2015Glu)
c.8658C>G (p.Asp2886Glu)
c.6468C>G (p.Asp2156Glu)
c.6144C>G (p.Asp2048Glu)
11g.118504454C>TCA477359891KMT2Ac.8661C>T (p.Asp2887=)
c.8652C>T (p.Asp2884=)
c.2601C>T (p.Asp867=)
c.2859C>T (p.Asp953=)
c.8634C>T (p.Asp2878=)
c.8553C>T (p.Asp2851=)
n.7904C>T
c.8562C>T (p.Asp2854=)
c.8439C>T (p.Asp2813=)
c.6045C>T (p.Asp2015=)
c.8658C>T (p.Asp2886=)
c.6468C>T (p.Asp2156=)
c.6144C>T (p.Asp2048=)
11g.118504455T>ACA382814713KMT2Ac.8662T>A (p.Phe2888Ile)
c.8653T>A (p.Phe2885Ile)
c.2602T>A (p.Phe868Ile)
c.2860T>A (p.Phe954Ile)
c.8635T>A (p.Phe2879Ile)
c.8554T>A (p.Phe2852Ile)
n.7905T>A
c.8563T>A (p.Phe2855Ile)
c.8440T>A (p.Phe2814Ile)
c.6046T>A (p.Phe2016Ile)
c.8659T>A (p.Phe2887Ile)
c.6469T>A (p.Phe2157Ile)
c.6145T>A (p.Phe2049Ile)
11g.118504455T>CCA382814715KMT2Ac.8662T>C (p.Phe2888Leu)
c.8653T>C (p.Phe2885Leu)
c.2602T>C (p.Phe868Leu)
c.2860T>C (p.Phe954Leu)
c.8635T>C (p.Phe2879Leu)
c.8554T>C (p.Phe2852Leu)
n.7905T>C
c.8563T>C (p.Phe2855Leu)
c.8440T>C (p.Phe2814Leu)
c.6046T>C (p.Phe2016Leu)
c.8659T>C (p.Phe2887Leu)
c.6469T>C (p.Phe2157Leu)
c.6145T>C (p.Phe2049Leu)
11g.118504455T>GCA382814717KMT2Ac.8662T>G (p.Phe2888Val)
c.8653T>G (p.Phe2885Val)
c.2602T>G (p.Phe868Val)
c.2860T>G (p.Phe954Val)
c.8635T>G (p.Phe2879Val)
c.8554T>G (p.Phe2852Val)
n.7905T>G
c.8563T>G (p.Phe2855Val)
c.8440T>G (p.Phe2814Val)
c.6046T>G (p.Phe2016Val)
c.8659T>G (p.Phe2887Val)
c.6469T>G (p.Phe2157Val)
c.6145T>G (p.Phe2049Val)
11g.118504456T>ACA382814720KMT2Ac.8663T>A (p.Phe2888Tyr)
c.8654T>A (p.Phe2885Tyr)
c.2603T>A (p.Phe868Tyr)
c.2861T>A (p.Phe954Tyr)
c.8636T>A (p.Phe2879Tyr)
c.8555T>A (p.Phe2852Tyr)
n.7906T>A
c.8564T>A (p.Phe2855Tyr)
c.8441T>A (p.Phe2814Tyr)
c.6047T>A (p.Phe2016Tyr)
c.8660T>A (p.Phe2887Tyr)
c.6470T>A (p.Phe2157Tyr)
c.6146T>A (p.Phe2049Tyr)
11g.118504456T>CCA382814724KMT2Ac.8663T>C (p.Phe2888Ser)
c.8654T>C (p.Phe2885Ser)
c.2603T>C (p.Phe868Ser)
c.2861T>C (p.Phe954Ser)
c.8636T>C (p.Phe2879Ser)
c.8555T>C (p.Phe2852Ser)
n.7906T>C
c.8564T>C (p.Phe2855Ser)
c.8441T>C (p.Phe2814Ser)
c.6047T>C (p.Phe2016Ser)
c.8660T>C (p.Phe2887Ser)
c.6470T>C (p.Phe2157Ser)
c.6146T>C (p.Phe2049Ser)
11g.118504456T>GCA382814726KMT2Ac.8663T>G (p.Phe2888Cys)
c.8654T>G (p.Phe2885Cys)
c.2603T>G (p.Phe868Cys)
c.2861T>G (p.Phe954Cys)
c.8636T>G (p.Phe2879Cys)
c.8555T>G (p.Phe2852Cys)
n.7906T>G
c.8564T>G (p.Phe2855Cys)
c.8441T>G (p.Phe2814Cys)
c.6047T>G (p.Phe2016Cys)
c.8660T>G (p.Phe2887Cys)
c.6470T>G (p.Phe2157Cys)
c.6146T>G (p.Phe2049Cys)
11g.118504457T>ACA382814732KMT2Ac.8664T>A (p.Phe2888Leu)
c.8655T>A (p.Phe2885Leu)
c.2604T>A (p.Phe868Leu)
c.2862T>A (p.Phe954Leu)
c.8637T>A (p.Phe2879Leu)
c.8556T>A (p.Phe2852Leu)
n.7907T>A
c.8565T>A (p.Phe2855Leu)
c.8442T>A (p.Phe2814Leu)
c.6048T>A (p.Phe2016Leu)
c.8661T>A (p.Phe2887Leu)
c.6471T>A (p.Phe2157Leu)
c.6147T>A (p.Phe2049Leu)
11g.118504457T>CCA477359900KMT2Ac.8664T>C (p.Phe2888=)
c.8655T>C (p.Phe2885=)
c.2604T>C (p.Phe868=)
c.2862T>C (p.Phe954=)
c.8637T>C (p.Phe2879=)
c.8556T>C (p.Phe2852=)
n.7907T>C
c.8565T>C (p.Phe2855=)
c.8442T>C (p.Phe2814=)
c.6048T>C (p.Phe2016=)
c.8661T>C (p.Phe2887=)
c.6471T>C (p.Phe2157=)
c.6147T>C (p.Phe2049=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.118504457T>GCA382814730KMT2Ac.8664T>G (p.Phe2888Leu)
c.8655T>G (p.Phe2885Leu)
c.2604T>G (p.Phe868Leu)
c.2862T>G (p.Phe954Leu)
c.8637T>G (p.Phe2879Leu)
c.8556T>G (p.Phe2852Leu)
n.7907T>G
c.8565T>G (p.Phe2855Leu)
c.8442T>G (p.Phe2814Leu)
c.6048T>G (p.Phe2016Leu)
c.8661T>G (p.Phe2887Leu)
c.6471T>G (p.Phe2157Leu)
c.6147T>G (p.Phe2049Leu)
11g.118504457T=CA2003528932KMT2Ac.8664T= (p.Phe2888=)
c.8655T= (p.Phe2885=)
c.2604T= (p.Phe868=)
c.2862T= (p.Phe954=)
c.8637T= (p.Phe2879=)
c.8556T= (p.Phe2852=)
n.7907T=
c.8565T= (p.Phe2855=)
c.8442T= (p.Phe2814=)
c.6048T= (p.Phe2016=)
c.8661T= (p.Phe2887=)
c.6471T= (p.Phe2157=)
c.6147T= (p.Phe2049=)
11g.118504458G>ACA382814737KMT2Ac.8665G>A (p.Val2889Ile)
c.8656G>A (p.Val2886Ile)
c.2605G>A (p.Val869Ile)
c.2863G>A (p.Val955Ile)
c.8638G>A (p.Val2880Ile)
c.8557G>A (p.Val2853Ile)
n.7908G>A
c.8566G>A (p.Val2856Ile)
c.8443G>A (p.Val2815Ile)
c.6049G>A (p.Val2017Ile)
c.8662G>A (p.Val2888Ile)
c.6472G>A (p.Val2158Ile)
c.6148G>A (p.Val2050Ile)
11g.118504458G>CCA382814743KMT2Ac.8665G>C (p.Val2889Leu)
c.8656G>C (p.Val2886Leu)
c.2605G>C (p.Val869Leu)
c.2863G>C (p.Val955Leu)
c.8638G>C (p.Val2880Leu)
c.8557G>C (p.Val2853Leu)
n.7908G>C
c.8566G>C (p.Val2856Leu)
c.8443G>C (p.Val2815Leu)
c.6049G>C (p.Val2017Leu)
c.8662G>C (p.Val2888Leu)
c.6472G>C (p.Val2158Leu)
c.6148G>C (p.Val2050Leu)
dbSNP
11g.118504458G>TCA382814741KMT2Ac.8665G>T (p.Val2889Leu)
c.8656G>T (p.Val2886Leu)
c.2605G>T (p.Val869Leu)
c.2863G>T (p.Val955Leu)
c.8638G>T (p.Val2880Leu)
c.8557G>T (p.Val2853Leu)
n.7908G>T
c.8566G>T (p.Val2856Leu)
c.8443G>T (p.Val2815Leu)
c.6049G>T (p.Val2017Leu)
c.8662G>T (p.Val2888Leu)
c.6472G>T (p.Val2158Leu)
c.6148G>T (p.Val2050Leu)
11g.118504459T>ACA382814748KMT2Ac.8666T>A (p.Val2889Glu)
c.8657T>A (p.Val2886Glu)
c.2606T>A (p.Val869Glu)
c.2864T>A (p.Val955Glu)
c.8639T>A (p.Val2880Glu)
c.8558T>A (p.Val2853Glu)
n.7909T>A
c.8567T>A (p.Val2856Glu)
c.8444T>A (p.Val2815Glu)
c.6050T>A (p.Val2017Glu)
c.8663T>A (p.Val2888Glu)
c.6473T>A (p.Val2158Glu)
c.6149T>A (p.Val2050Glu)
11g.118504459T>CCA382814751KMT2Ac.8666T>C (p.Val2889Ala)
c.8657T>C (p.Val2886Ala)
c.2606T>C (p.Val869Ala)
c.2864T>C (p.Val955Ala)
c.8639T>C (p.Val2880Ala)
c.8558T>C (p.Val2853Ala)
n.7909T>C
c.8567T>C (p.Val2856Ala)
c.8444T>C (p.Val2815Ala)
c.6050T>C (p.Val2017Ala)
c.8663T>C (p.Val2888Ala)
c.6473T>C (p.Val2158Ala)
c.6149T>C (p.Val2050Ala)
11g.118504459T>GCA382814755KMT2Ac.8666T>G (p.Val2889Gly)
c.8657T>G (p.Val2886Gly)
c.2606T>G (p.Val869Gly)
c.2864T>G (p.Val955Gly)
c.8639T>G (p.Val2880Gly)
c.8558T>G (p.Val2853Gly)
n.7909T>G
c.8567T>G (p.Val2856Gly)
c.8444T>G (p.Val2815Gly)
c.6050T>G (p.Val2017Gly)
c.8663T>G (p.Val2888Gly)
c.6473T>G (p.Val2158Gly)
c.6149T>G (p.Val2050Gly)
11g.118504460A=CA2003528934KMT2Ac.8667A= (p.Val2889=)
c.8658A= (p.Val2886=)
c.2607A= (p.Val869=)
c.2865A= (p.Val955=)
c.8640A= (p.Val2880=)
c.8559A= (p.Val2853=)
n.7910A=
c.8568A= (p.Val2856=)
c.8445A= (p.Val2815=)
c.6051A= (p.Val2017=)
c.8664A= (p.Val2888=)
c.6474A= (p.Val2158=)
c.6150A= (p.Val2050=)
11g.118504460A>CCA477359906KMT2Ac.8667A>C (p.Val2889=)
c.8658A>C (p.Val2886=)
c.2607A>C (p.Val869=)
c.2865A>C (p.Val955=)
c.8640A>C (p.Val2880=)
c.8559A>C (p.Val2853=)
n.7910A>C
c.8568A>C (p.Val2856=)
c.8445A>C (p.Val2815=)
c.6051A>C (p.Val2017=)
c.8664A>C (p.Val2888=)
c.6474A>C (p.Val2158=)
c.6150A>C (p.Val2050=)
11g.118504460A>GCA229529057KMT2Ac.8667A>G (p.Val2889=)
c.8658A>G (p.Val2886=)
c.2607A>G (p.Val869=)
c.2865A>G (p.Val955=)
c.8640A>G (p.Val2880=)
c.8559A>G (p.Val2853=)
n.7910A>G
c.8568A>G (p.Val2856=)
c.8445A>G (p.Val2815=)
c.6051A>G (p.Val2017=)
c.8664A>G (p.Val2888=)
c.6474A>G (p.Val2158=)
c.6150A>G (p.Val2050=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118504460A>TCA477359907KMT2Ac.8667A>T (p.Val2889=)
c.8658A>T (p.Val2886=)
c.2607A>T (p.Val869=)
c.2865A>T (p.Val955=)
c.8640A>T (p.Val2880=)
c.8559A>T (p.Val2853=)
n.7910A>T
c.8568A>T (p.Val2856=)
c.8445A>T (p.Val2815=)
c.6051A>T (p.Val2017=)
c.8664A>T (p.Val2888=)
c.6474A>T (p.Val2158=)
c.6150A>T (p.Val2050=)
11g.118504461C>ACA382814769KMT2Ac.8668C>A (p.Leu2890Ile)
c.8659C>A (p.Leu2887Ile)
c.2608C>A (p.Leu870Ile)
c.2866C>A (p.Leu956Ile)
c.8641C>A (p.Leu2881Ile)
c.8560C>A (p.Leu2854Ile)
n.7911C>A
c.8569C>A (p.Leu2857Ile)
c.8446C>A (p.Leu2816Ile)
c.6052C>A (p.Leu2018Ile)
c.8665C>A (p.Leu2889Ile)
c.6475C>A (p.Leu2159Ile)
c.6151C>A (p.Leu2051Ile)
11g.118504461C>GCA382814772KMT2Ac.8668C>G (p.Leu2890Val)
c.8659C>G (p.Leu2887Val)
c.2608C>G (p.Leu870Val)
c.2866C>G (p.Leu956Val)
c.8641C>G (p.Leu2881Val)
c.8560C>G (p.Leu2854Val)
n.7911C>G
c.8569C>G (p.Leu2857Val)
c.8446C>G (p.Leu2816Val)
c.6052C>G (p.Leu2018Val)
c.8665C>G (p.Leu2889Val)
c.6475C>G (p.Leu2159Val)
c.6151C>G (p.Leu2051Val)
11g.118504461C>TCA477359912KMT2Ac.8668C>T (p.Leu2890=)
c.8659C>T (p.Leu2887=)
c.2608C>T (p.Leu870=)
c.2866C>T (p.Leu956=)
c.8641C>T (p.Leu2881=)
c.8560C>T (p.Leu2854=)
n.7911C>T
c.8569C>T (p.Leu2857=)
c.8446C>T (p.Leu2816=)
c.6052C>T (p.Leu2018=)
c.8665C>T (p.Leu2889=)
c.6475C>T (p.Leu2159=)
c.6151C>T (p.Leu2051=)
11g.118504462T>ACA16605859KMT2Ac.8669T>A (p.Leu2890Gln)
c.8660T>A (p.Leu2887Gln)
c.2609T>A (p.Leu870Gln)
c.2867T>A (p.Leu956Gln)
c.8642T>A (p.Leu2881Gln)
c.8561T>A (p.Leu2854Gln)
n.7912T>A
c.8570T>A (p.Leu2857Gln)
c.8447T>A (p.Leu2816Gln)
c.6053T>A (p.Leu2018Gln)
c.8666T>A (p.Leu2889Gln)
c.6476T>A (p.Leu2159Gln)
c.6152T>A (p.Leu2051Gln)
ClinVar dbSNP
11g.118504462T>CCA382814780KMT2Ac.8669T>C (p.Leu2890Pro)
c.8660T>C (p.Leu2887Pro)
c.2609T>C (p.Leu870Pro)
c.2867T>C (p.Leu956Pro)
c.8642T>C (p.Leu2881Pro)
c.8561T>C (p.Leu2854Pro)
n.7912T>C
c.8570T>C (p.Leu2857Pro)
c.8447T>C (p.Leu2816Pro)
c.6053T>C (p.Leu2018Pro)
c.8666T>C (p.Leu2889Pro)
c.6476T>C (p.Leu2159Pro)
c.6152T>C (p.Leu2051Pro)
11g.118504462T>GCA382814783KMT2Ac.8669T>G (p.Leu2890Arg)
c.8660T>G (p.Leu2887Arg)
c.2609T>G (p.Leu870Arg)
c.2867T>G (p.Leu956Arg)
c.8642T>G (p.Leu2881Arg)
c.8561T>G (p.Leu2854Arg)
n.7912T>G
c.8570T>G (p.Leu2857Arg)
c.8447T>G (p.Leu2816Arg)
c.6053T>G (p.Leu2018Arg)
c.8666T>G (p.Leu2889Arg)
c.6476T>G (p.Leu2159Arg)
c.6152T>G (p.Leu2051Arg)
ClinVar
11g.118504462T=CA2003528937KMT2Ac.8669T= (p.Leu2890=)
c.8660T= (p.Leu2887=)
c.2609T= (p.Leu870=)
c.2867T= (p.Leu956=)
c.8642T= (p.Leu2881=)
c.8561T= (p.Leu2854=)
n.7912T=
c.8570T= (p.Leu2857=)
c.8447T= (p.Leu2816=)
c.6053T= (p.Leu2018=)
c.8666T= (p.Leu2889=)
c.6476T= (p.Leu2159=)
c.6152T= (p.Leu2051=)

Number of alleles fetched