Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177211503C>ACA362322028NSD1c.2231C>A (p.Ser744Ter)
n.612+7211C>A
n.2687C>A
c.2795C>A (p.Ser932Ter)
n.2501C>A
c.3104C>A (p.Ser1035Ter)
n.3251C>A
c.2297C>A (p.Ser766Ter)
c.2684C>A (p.Ser895Ter)
c.2048C>A (p.Ser683Ter)
c.-892C>A (n.-892C>A)
dbSNP COSMIC COSMIC
5g.177211503C=CA1603477990NSD1c.2231C= (p.Ser744=)
n.612+7211C=
n.2687C=
c.2795C= (p.Ser932=)
n.2501C=
c.3104C= (p.Ser1035=)
n.3251C=
c.2297C= (p.Ser766=)
c.2684C= (p.Ser895=)
c.2048C= (p.Ser683=)
c.-892C= (n.-892C=)
5g.177211503C>GCA362322030NSD1c.2231C>G (p.Ser744Ter)
n.612+7211C>G
n.2687C>G
c.2795C>G (p.Ser932Ter)
n.2501C>G
c.3104C>G (p.Ser1035Ter)
n.3251C>G
c.2297C>G (p.Ser766Ter)
c.2684C>G (p.Ser895Ter)
c.2048C>G (p.Ser683Ter)
c.-892C>G (n.-892C>G)
5g.177211503C>TCA3577377NSD1c.2231C>T (p.Ser744Leu)
n.612+7211C>T
n.2687C>T
c.2795C>T (p.Ser932Leu)
n.2501C>T
c.3104C>T (p.Ser1035Leu)
n.3251C>T
c.2297C>T (p.Ser766Leu)
c.2684C>T (p.Ser895Leu)
c.2048C>T (p.Ser683Leu)
c.-892C>T (n.-892C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211504A>CCA447960874NSD1c.2232A>C (p.Ser744=)
n.612+7212A>C
n.2688A>C
c.2796A>C (p.Ser932=)
n.2502A>C
c.3105A>C (p.Ser1035=)
n.3252A>C
c.2298A>C (p.Ser766=)
c.2685A>C (p.Ser895=)
c.2049A>C (p.Ser683=)
c.-891A>C (n.-891A>C)
5g.177211504A>GCA447960875NSD1c.2232A>G (p.Ser744=)
n.612+7212A>G
n.2688A>G
c.2796A>G (p.Ser932=)
n.2502A>G
c.3105A>G (p.Ser1035=)
n.3252A>G
c.2298A>G (p.Ser766=)
c.2685A>G (p.Ser895=)
c.2049A>G (p.Ser683=)
c.-891A>G (n.-891A>G)
gnomAD v4
5g.177211504A>TCA447960877NSD1c.2232A>T (p.Ser744=)
n.612+7212A>T
n.2688A>T
c.2796A>T (p.Ser932=)
n.2502A>T
c.3105A>T (p.Ser1035=)
n.3252A>T
c.2298A>T (p.Ser766=)
c.2685A>T (p.Ser895=)
c.2049A>T (p.Ser683=)
c.-891A>T (n.-891A>T)
5g.177211505G>ACA362322035NSD1c.2233G>A (p.Ala745Thr)
n.612+7213G>A
n.2689G>A
c.2797G>A (p.Ala933Thr)
n.2503G>A
c.3106G>A (p.Ala1036Thr)
n.3253G>A
c.2299G>A (p.Ala767Thr)
c.2686G>A (p.Ala896Thr)
c.2050G>A (p.Ala684Thr)
c.-890G>A (n.-890G>A)
5g.177211505G>CCA248755NSD1c.2233G>C (p.Ala745Pro)
n.612+7213G>C
n.2689G>C
c.2797G>C (p.Ala933Pro)
n.2503G>C
c.3106G>C (p.Ala1036Pro)
n.3253G>C
c.2299G>C (p.Ala767Pro)
c.2686G>C (p.Ala896Pro)
c.2050G>C (p.Ala684Pro)
c.-890G>C (n.-890G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211505G=CA1603477997NSD1c.2233G= (p.Ala745=)
n.612+7213G=
n.2689G=
c.2797G= (p.Ala933=)
n.2503G=
c.3106G= (p.Ala1036=)
n.3253G=
c.2299G= (p.Ala767=)
c.2686G= (p.Ala896=)
c.2050G= (p.Ala684=)
c.-890G= (n.-890G=)
5g.177211505G>TCA362322038NSD1c.2233G>T (p.Ala745Ser)
n.612+7213G>T
n.2689G>T
c.2797G>T (p.Ala933Ser)
n.2503G>T
c.3106G>T (p.Ala1036Ser)
n.3253G>T
c.2299G>T (p.Ala767Ser)
c.2686G>T (p.Ala896Ser)
c.2050G>T (p.Ala684Ser)
c.-890G>T (n.-890G>T)
gnomAD v4
5g.177211506C>ACA362322045NSD1c.2234C>A (p.Ala745Asp)
n.612+7214C>A
n.2690C>A
c.2798C>A (p.Ala933Asp)
n.2504C>A
c.3107C>A (p.Ala1036Asp)
n.3254C>A
c.2300C>A (p.Ala767Asp)
c.2687C>A (p.Ala896Asp)
c.2051C>A (p.Ala684Asp)
c.-889C>A (n.-889C>A)
dbSNP
5g.177211506C=CA1603477999NSD1c.2234C= (p.Ala745=)
n.612+7214C=
n.2690C=
c.2798C= (p.Ala933=)
n.2504C=
c.3107C= (p.Ala1036=)
n.3254C=
c.2300C= (p.Ala767=)
c.2687C= (p.Ala896=)
c.2051C= (p.Ala684=)
c.-889C= (n.-889C=)
5g.177211506C>GCA362322042NSD1c.2234C>G (p.Ala745Gly)
n.612+7214C>G
n.2690C>G
c.2798C>G (p.Ala933Gly)
n.2504C>G
c.3107C>G (p.Ala1036Gly)
n.3254C>G
c.2300C>G (p.Ala767Gly)
c.2687C>G (p.Ala896Gly)
c.2051C>G (p.Ala684Gly)
c.-889C>G (n.-889C>G)
gnomAD v4
5g.177211506C>TCA362322041NSD1c.2234C>T (p.Ala745Val)
n.612+7214C>T
n.2690C>T
c.2798C>T (p.Ala933Val)
n.2504C>T
c.3107C>T (p.Ala1036Val)
n.3254C>T
c.2300C>T (p.Ala767Val)
c.2687C>T (p.Ala896Val)
c.2051C>T (p.Ala684Val)
c.-889C>T (n.-889C>T)
dbSNP gnomAD v4
5g.177211507C>ACA447960880NSD1c.2235C>A (p.Ala745=)
n.612+7215C>A
n.2691C>A
c.2799C>A (p.Ala933=)
n.2505C>A
c.3108C>A (p.Ala1036=)
n.3255C>A
c.2301C>A (p.Ala767=)
c.2688C>A (p.Ala896=)
c.2052C>A (p.Ala684=)
c.-888C>A (n.-888C>A)
dbSNP
5g.177211507C=CA1603478002NSD1c.2235C= (p.Ala745=)
n.612+7215C=
n.2691C=
c.2799C= (p.Ala933=)
n.2505C=
c.3108C= (p.Ala1036=)
n.3255C=
c.2301C= (p.Ala767=)
c.2688C= (p.Ala896=)
c.2052C= (p.Ala684=)
c.-888C= (n.-888C=)
5g.177211507C>GCA447960882NSD1c.2235C>G (p.Ala745=)
n.612+7215C>G
n.2691C>G
c.2799C>G (p.Ala933=)
n.2505C>G
c.3108C>G (p.Ala1036=)
n.3255C>G
c.2301C>G (p.Ala767=)
c.2688C>G (p.Ala896=)
c.2052C>G (p.Ala684=)
c.-888C>G (n.-888C>G)
gnomAD v4 COSMIC COSMIC
5g.177211507C>TCA3577378NSD1c.2235C>T (p.Ala745=)
n.612+7215C>T
n.2691C>T
c.2799C>T (p.Ala933=)
n.2505C>T
c.3108C>T (p.Ala1036=)
n.3255C>T
c.2301C>T (p.Ala767=)
c.2688C>T (p.Ala896=)
c.2052C>T (p.Ala684=)
c.-888C>T (n.-888C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211508C>ACA362322054NSD1c.2236C>A (p.Gln746Lys)
n.612+7216C>A
n.2692C>A
c.2800C>A (p.Gln934Lys)
n.2506C>A
c.3109C>A (p.Gln1037Lys)
n.3256C>A
c.2302C>A (p.Gln768Lys)
c.2689C>A (p.Gln897Lys)
c.2053C>A (p.Gln685Lys)
c.-887C>A (n.-887C>A)
5g.177211508C>GCA362322050NSD1c.2236C>G (p.Gln746Glu)
n.612+7216C>G
n.2692C>G
c.2800C>G (p.Gln934Glu)
n.2506C>G
c.3109C>G (p.Gln1037Glu)
n.3256C>G
c.2302C>G (p.Gln768Glu)
c.2689C>G (p.Gln897Glu)
c.2053C>G (p.Gln685Glu)
c.-887C>G (n.-887C>G)
5g.177211508C>TCA362322052NSD1c.2236C>T (p.Gln746Ter)
n.612+7216C>T
n.2692C>T
c.2800C>T (p.Gln934Ter)
n.2506C>T
c.3109C>T (p.Gln1037Ter)
n.3256C>T
c.2302C>T (p.Gln768Ter)
c.2689C>T (p.Gln897Ter)
c.2053C>T (p.Gln685Ter)
c.-887C>T (n.-887C>T)
ClinVar dbSNP
5g.177211509A=CA1603478007NSD1c.2237A= (p.Gln746=)
n.612+7217A=
n.2693A=
c.2801A= (p.Gln934=)
n.2507A=
c.3110A= (p.Gln1037=)
n.3257A=
c.2303A= (p.Gln768=)
c.2690A= (p.Gln897=)
c.2054A= (p.Gln685=)
c.-886A= (n.-886A=)
5g.177211509A>CCA362322058NSD1c.2237A>C (p.Gln746Pro)
n.612+7217A>C
n.2693A>C
c.2801A>C (p.Gln934Pro)
n.2507A>C
c.3110A>C (p.Gln1037Pro)
n.3257A>C
c.2303A>C (p.Gln768Pro)
c.2690A>C (p.Gln897Pro)
c.2054A>C (p.Gln685Pro)
c.-886A>C (n.-886A>C)
5g.177211509A>GCA246230NSD1c.2237A>G (p.Gln746Arg)
n.612+7217A>G
n.2693A>G
c.2801A>G (p.Gln934Arg)
n.2507A>G
c.3110A>G (p.Gln1037Arg)
n.3257A>G
c.2303A>G (p.Gln768Arg)
c.2690A>G (p.Gln897Arg)
c.2054A>G (p.Gln685Arg)
c.-886A>G (n.-886A>G)
ClinVar dbSNP
5g.177211509A>TCA362322061NSD1c.2237A>T (p.Gln746Leu)
n.612+7217A>T
n.2693A>T
c.2801A>T (p.Gln934Leu)
n.2507A>T
c.3110A>T (p.Gln1037Leu)
n.3257A>T
c.2303A>T (p.Gln768Leu)
c.2690A>T (p.Gln897Leu)
c.2054A>T (p.Gln685Leu)
c.-886A>T (n.-886A>T)
5g.177211510A=CA1603478010NSD1c.2238A= (p.Gln746=)
n.612+7218A=
n.2694A=
c.2802A= (p.Gln934=)
n.2508A=
c.3111A= (p.Gln1037=)
n.3258A=
c.2304A= (p.Gln768=)
c.2691A= (p.Gln897=)
c.2055A= (p.Gln685=)
c.-885A= (n.-885A=)
5g.177211510A>CCA362322069NSD1c.2238A>C (p.Gln746His)
n.612+7218A>C
n.2694A>C
c.2802A>C (p.Gln934His)
n.2508A>C
c.3111A>C (p.Gln1037His)
n.3258A>C
c.2304A>C (p.Gln768His)
c.2691A>C (p.Gln897His)
c.2055A>C (p.Gln685His)
c.-885A>C (n.-885A>C)
5g.177211510A>GCA3577379NSD1c.2238A>G (p.Gln746=)
n.612+7218A>G
n.2694A>G
c.2802A>G (p.Gln934=)
n.2508A>G
c.3111A>G (p.Gln1037=)
n.3258A>G
c.2304A>G (p.Gln768=)
c.2691A>G (p.Gln897=)
c.2055A>G (p.Gln685=)
c.-885A>G (n.-885A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211510A>TCA362322065NSD1c.2238A>T (p.Gln746His)
n.612+7218A>T
n.2694A>T
c.2802A>T (p.Gln934His)
n.2508A>T
c.3111A>T (p.Gln1037His)
n.3258A>T
c.2304A>T (p.Gln768His)
c.2691A>T (p.Gln897His)
c.2055A>T (p.Gln685His)
c.-885A>T (n.-885A>T)
gnomAD v4
5g.177211511A=CA1603478019NSD1c.2239A= (p.Met747=)
n.612+7219A=
n.2695A=
c.2803A= (p.Met935=)
n.2509A=
c.3112A= (p.Met1038=)
n.3259A=
c.2305A= (p.Met769=)
c.2692A= (p.Met898=)
c.2056A= (p.Met686=)
c.-884A= (n.-884A=)
5g.177211511A>CCA362322073NSD1c.2239A>C (p.Met747Leu)
n.612+7219A>C
n.2695A>C
c.2803A>C (p.Met935Leu)
n.2509A>C
c.3112A>C (p.Met1038Leu)
n.3259A>C
c.2305A>C (p.Met769Leu)
c.2692A>C (p.Met898Leu)
c.2056A>C (p.Met686Leu)
c.-884A>C (n.-884A>C)
5g.177211511A>GCA362322076NSD1c.2239A>G (p.Met747Val)
n.612+7219A>G
n.2695A>G
c.2803A>G (p.Met935Val)
n.2509A>G
c.3112A>G (p.Met1038Val)
n.3259A>G
c.2305A>G (p.Met769Val)
c.2692A>G (p.Met898Val)
c.2056A>G (p.Met686Val)
c.-884A>G (n.-884A>G)
dbSNP
5g.177211511A>TCA362322079NSD1c.2239A>T (p.Met747Leu)
n.612+7219A>T
n.2695A>T
c.2803A>T (p.Met935Leu)
n.2509A>T
c.3112A>T (p.Met1038Leu)
n.3259A>T
c.2305A>T (p.Met769Leu)
c.2692A>T (p.Met898Leu)
c.2056A>T (p.Met686Leu)
c.-884A>T (n.-884A>T)
5g.177211512T>ACA362322083NSD1c.2240T>A (p.Met747Lys)
n.612+7220T>A
n.2696T>A
c.2804T>A (p.Met935Lys)
n.2510T>A
c.3113T>A (p.Met1038Lys)
n.3260T>A
c.2306T>A (p.Met769Lys)
c.2693T>A (p.Met898Lys)
c.2057T>A (p.Met686Lys)
c.-883T>A (n.-883T>A)
5g.177211512T>CCA362322086NSD1c.2240T>C (p.Met747Thr)
n.612+7220T>C
n.2696T>C
c.2804T>C (p.Met935Thr)
n.2510T>C
c.3113T>C (p.Met1038Thr)
n.3260T>C
c.2306T>C (p.Met769Thr)
c.2693T>C (p.Met898Thr)
c.2057T>C (p.Met686Thr)
c.-883T>C (n.-883T>C)
gnomAD v4
5g.177211512T>GCA362322088NSD1c.2240T>G (p.Met747Arg)
n.612+7220T>G
n.2696T>G
c.2804T>G (p.Met935Arg)
n.2510T>G
c.3113T>G (p.Met1038Arg)
n.3260T>G
c.2306T>G (p.Met769Arg)
c.2693T>G (p.Met898Arg)
c.2057T>G (p.Met686Arg)
c.-883T>G (n.-883T>G)
5g.177211513G>ACA362322091NSD1c.2241G>A (p.Met747Ile)
n.612+7221G>A
n.2697G>A
c.2805G>A (p.Met935Ile)
n.2511G>A
c.3114G>A (p.Met1038Ile)
n.3261G>A
c.2307G>A (p.Met769Ile)
c.2694G>A (p.Met898Ile)
c.2058G>A (p.Met686Ile)
c.-882G>A (n.-882G>A)
5g.177211513G>CCA362322097NSD1c.2241G>C (p.Met747Ile)
n.612+7221G>C
n.2697G>C
c.2805G>C (p.Met935Ile)
n.2511G>C
c.3114G>C (p.Met1038Ile)
n.3261G>C
c.2307G>C (p.Met769Ile)
c.2694G>C (p.Met898Ile)
c.2058G>C (p.Met686Ile)
c.-882G>C (n.-882G>C)
5g.177211513G=CA1603478026NSD1c.2241G= (p.Met747=)
n.612+7221G=
n.2697G=
c.2805G= (p.Met935=)
n.2511G=
c.3114G= (p.Met1038=)
n.3261G=
c.2307G= (p.Met769=)
c.2694G= (p.Met898=)
c.2058G= (p.Met686=)
c.-882G= (n.-882G=)
5g.177211513G>TCA362322094NSD1c.2241G>T (p.Met747Ile)
n.612+7221G>T
n.2697G>T
c.2805G>T (p.Met935Ile)
n.2511G>T
c.3114G>T (p.Met1038Ile)
n.3261G>T
c.2307G>T (p.Met769Ile)
c.2694G>T (p.Met898Ile)
c.2058G>T (p.Met686Ile)
c.-882G>T (n.-882G>T)
ClinVar dbSNP
5g.177211514G>ACA362322112NSD1c.2242G>A (p.Val748Ile)
n.612+7222G>A
n.2698G>A
c.2806G>A (p.Val936Ile)
n.2512G>A
c.3115G>A (p.Val1039Ile)
n.3262G>A
c.2308G>A (p.Val770Ile)
c.2695G>A (p.Val899Ile)
c.2059G>A (p.Val687Ile)
c.-881G>A (n.-881G>A)
dbSNP gnomAD v2 gnomAD v4
5g.177211514G>CCA362322115NSD1c.2242G>C (p.Val748Leu)
n.612+7222G>C
n.2698G>C
c.2806G>C (p.Val936Leu)
n.2512G>C
c.3115G>C (p.Val1039Leu)
n.3262G>C
c.2308G>C (p.Val770Leu)
c.2695G>C (p.Val899Leu)
c.2059G>C (p.Val687Leu)
c.-881G>C (n.-881G>C)
5g.177211514G=CA1603478032NSD1c.2242G= (p.Val748=)
n.612+7222G=
n.2698G=
c.2806G= (p.Val936=)
n.2512G=
c.3115G= (p.Val1039=)
n.3262G=
c.2308G= (p.Val770=)
c.2695G= (p.Val899=)
c.2059G= (p.Val687=)
c.-881G= (n.-881G=)
5g.177211514G>TCA362322117NSD1c.2242G>T (p.Val748Leu)
n.612+7222G>T
n.2698G>T
c.2806G>T (p.Val936Leu)
n.2512G>T
c.3115G>T (p.Val1039Leu)
n.3262G>T
c.2308G>T (p.Val770Leu)
c.2695G>T (p.Val899Leu)
c.2059G>T (p.Val687Leu)
c.-881G>T (n.-881G>T)
5g.177211515T>ACA362322122NSD1c.2243T>A (p.Val748Glu)
n.612+7223T>A
n.2699T>A
c.2807T>A (p.Val936Glu)
n.2513T>A
c.3116T>A (p.Val1039Glu)
n.3263T>A
c.2309T>A (p.Val770Glu)
c.2696T>A (p.Val899Glu)
c.2060T>A (p.Val687Glu)
c.-880T>A (n.-880T>A)
dbSNP
5g.177211515T>CCA362322124NSD1c.2243T>C (p.Val748Ala)
n.612+7223T>C
n.2699T>C
c.2807T>C (p.Val936Ala)
n.2513T>C
c.3116T>C (p.Val1039Ala)
n.3263T>C
c.2309T>C (p.Val770Ala)
c.2696T>C (p.Val899Ala)
c.2060T>C (p.Val687Ala)
c.-880T>C (n.-880T>C)
5g.177211515T>GCA362322127NSD1c.2243T>G (p.Val748Gly)
n.612+7223T>G
n.2699T>G
c.2807T>G (p.Val936Gly)
n.2513T>G
c.3116T>G (p.Val1039Gly)
n.3263T>G
c.2309T>G (p.Val770Gly)
c.2696T>G (p.Val899Gly)
c.2060T>G (p.Val687Gly)
c.-880T>G (n.-880T>G)
gnomAD v4
5g.177211516A=CA1603478037NSD1c.2244A= (p.Val748=)
n.612+7224A=
n.2700A=
c.2808A= (p.Val936=)
n.2514A=
c.3117A= (p.Val1039=)
n.3264A=
c.2310A= (p.Val770=)
c.2697A= (p.Val899=)
c.2061A= (p.Val687=)
c.-879A= (n.-879A=)
5g.177211516A>CCA447960894NSD1c.2244A>C (p.Val748=)
n.612+7224A>C
n.2700A>C
c.2808A>C (p.Val936=)
n.2514A>C
c.3117A>C (p.Val1039=)
n.3264A>C
c.2310A>C (p.Val770=)
c.2697A>C (p.Val899=)
c.2061A>C (p.Val687=)
c.-879A>C (n.-879A>C)
5g.177211516A>GCA3577380NSD1c.2244A>G (p.Val748=)
n.612+7224A>G
n.2700A>G
c.2808A>G (p.Val936=)
n.2514A>G
c.3117A>G (p.Val1039=)
n.3264A>G
c.2310A>G (p.Val770=)
c.2697A>G (p.Val899=)
c.2061A>G (p.Val687=)
c.-879A>G (n.-879A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211516A>TCA447960895NSD1c.2244A>T (p.Val748=)
n.612+7224A>T
n.2700A>T
c.2808A>T (p.Val936=)
n.2514A>T
c.3117A>T (p.Val1039=)
n.3264A>T
c.2310A>T (p.Val770=)
c.2697A>T (p.Val899=)
c.2061A>T (p.Val687=)
c.-879A>T (n.-879A>T)
5g.177211518delCA2711100522NSD1c.2246del (p.Lys749ArgfsTer4)
n.612+7226del
n.2702del
c.2810del (p.Lys937ArgfsTer4)
n.2516del
c.3119del (p.Lys1040ArgfsTer4)
n.3266del
c.2312del (p.Lys771ArgfsTer4)
c.2699del (p.Lys900ArgfsTer4)
c.2063del (p.Lys688ArgfsTer4)
c.-877del (n.-877del)
dbSNP
5g.177211517A>CCA362322133NSD1c.2245A>C (p.Lys749Gln)
n.612+7225A>C
n.2701A>C
c.2809A>C (p.Lys937Gln)
n.2515A>C
c.3118A>C (p.Lys1040Gln)
n.3265A>C
c.2311A>C (p.Lys771Gln)
c.2698A>C (p.Lys900Gln)
c.2062A>C (p.Lys688Gln)
c.-878A>C (n.-878A>C)
5g.177211517A>GCA362322135NSD1c.2245A>G (p.Lys749Glu)
n.612+7225A>G
n.2701A>G
c.2809A>G (p.Lys937Glu)
n.2515A>G
c.3118A>G (p.Lys1040Glu)
n.3265A>G
c.2311A>G (p.Lys771Glu)
c.2698A>G (p.Lys900Glu)
c.2062A>G (p.Lys688Glu)
c.-878A>G (n.-878A>G)
5g.177211517A>TCA362322138NSD1c.2245A>T (p.Lys749Ter)
n.612+7225A>T
n.2701A>T
c.2809A>T (p.Lys937Ter)
n.2515A>T
c.3118A>T (p.Lys1040Ter)
n.3265A>T
c.2311A>T (p.Lys771Ter)
c.2698A>T (p.Lys900Ter)
c.2062A>T (p.Lys688Ter)
c.-878A>T (n.-878A>T)
5g.177211518A=CA1603478039NSD1c.2246A= (p.Lys749=)
n.612+7226A=
n.2702A=
c.2810A= (p.Lys937=)
n.2516A=
c.3119A= (p.Lys1040=)
n.3266A=
c.2312A= (p.Lys771=)
c.2699A= (p.Lys900=)
c.2063A= (p.Lys688=)
c.-877A= (n.-877A=)
5g.177211518A>CCA362322146NSD1c.2246A>C (p.Lys749Thr)
n.612+7226A>C
n.2702A>C
c.2810A>C (p.Lys937Thr)
n.2516A>C
c.3119A>C (p.Lys1040Thr)
n.3266A>C
c.2312A>C (p.Lys771Thr)
c.2699A>C (p.Lys900Thr)
c.2063A>C (p.Lys688Thr)
c.-877A>C (n.-877A>C)
dbSNP gnomAD v2 gnomAD v4
5g.177211518A>GCA362322145NSD1c.2246A>G (p.Lys749Arg)
n.612+7226A>G
n.2702A>G
c.2810A>G (p.Lys937Arg)
n.2516A>G
c.3119A>G (p.Lys1040Arg)
n.3266A>G
c.2312A>G (p.Lys771Arg)
c.2699A>G (p.Lys900Arg)
c.2063A>G (p.Lys688Arg)
c.-877A>G (n.-877A>G)
dbSNP gnomAD v2 gnomAD v4
5g.177211518A>TCA362322142NSD1c.2246A>T (p.Lys749Met)
n.612+7226A>T
n.2702A>T
c.2810A>T (p.Lys937Met)
n.2516A>T
c.3119A>T (p.Lys1040Met)
n.3266A>T
c.2312A>T (p.Lys771Met)
c.2699A>T (p.Lys900Met)
c.2063A>T (p.Lys688Met)
c.-877A>T (n.-877A>T)
5g.177211519G>ACA447960897NSD1c.2247G>A (p.Lys749=)
n.612+7227G>A
n.2703G>A
c.2811G>A (p.Lys937=)
n.2517G>A
c.3120G>A (p.Lys1040=)
n.3267G>A
c.2313G>A (p.Lys771=)
c.2700G>A (p.Lys900=)
c.2064G>A (p.Lys688=)
c.-876G>A (n.-876G>A)
5g.177211519G>CCA362322149NSD1c.2247G>C (p.Lys749Asn)
n.612+7227G>C
n.2703G>C
c.2811G>C (p.Lys937Asn)
n.2517G>C
c.3120G>C (p.Lys1040Asn)
n.3267G>C
c.2313G>C (p.Lys771Asn)
c.2700G>C (p.Lys900Asn)
c.2064G>C (p.Lys688Asn)
c.-876G>C (n.-876G>C)
5g.177211519G=CA1603478044NSD1c.2247G= (p.Lys749=)
n.612+7227G=
n.2703G=
c.2811G= (p.Lys937=)
n.2517G=
c.3120G= (p.Lys1040=)
n.3267G=
c.2313G= (p.Lys771=)
c.2700G= (p.Lys900=)
c.2064G= (p.Lys688=)
c.-876G= (n.-876G=)
5g.177211519G>TCA362322151NSD1c.2247G>T (p.Lys749Asn)
n.612+7227G>T
n.2703G>T
c.2811G>T (p.Lys937Asn)
n.2517G>T
c.3120G>T (p.Lys1040Asn)
n.3267G>T
c.2313G>T (p.Lys771Asn)
c.2700G>T (p.Lys900Asn)
c.2064G>T (p.Lys688Asn)
c.-876G>T (n.-876G>T)
dbSNP gnomAD v4
5g.177211520A=CA1603478067NSD1c.2248A= (p.Asn750=)
n.612+7228A=
n.2704A=
c.2812A= (p.Asn938=)
n.2518A=
c.3121A= (p.Asn1041=)
n.3268A=
c.2314A= (p.Asn772=)
c.2701A= (p.Asn901=)
c.2065A= (p.Asn689=)
c.-875A= (n.-875A=)
5g.177211520A>CCA362322154NSD1c.2248A>C (p.Asn750His)
n.612+7228A>C
n.2704A>C
c.2812A>C (p.Asn938His)
n.2518A>C
c.3121A>C (p.Asn1041His)
n.3268A>C
c.2314A>C (p.Asn772His)
c.2701A>C (p.Asn901His)
c.2065A>C (p.Asn689His)
c.-875A>C (n.-875A>C)
5g.177211520A>GCA3577381NSD1c.2248A>G (p.Asn750Asp)
n.612+7228A>G
n.2704A>G
c.2812A>G (p.Asn938Asp)
n.2518A>G
c.3121A>G (p.Asn1041Asp)
n.3268A>G
c.2314A>G (p.Asn772Asp)
c.2701A>G (p.Asn901Asp)
c.2065A>G (p.Asn689Asp)
c.-875A>G (n.-875A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211520A>TCA362322157NSD1c.2248A>T (p.Asn750Tyr)
n.612+7228A>T
n.2704A>T
c.2812A>T (p.Asn938Tyr)
n.2518A>T
c.3121A>T (p.Asn1041Tyr)
n.3268A>T
c.2314A>T (p.Asn772Tyr)
c.2701A>T (p.Asn901Tyr)
c.2065A>T (p.Asn689Tyr)
c.-875A>T (n.-875A>T)
5g.177211521A>CCA362322160NSD1c.2249A>C (p.Asn750Thr)
n.612+7229A>C
n.2705A>C
c.2813A>C (p.Asn938Thr)
n.2519A>C
c.3122A>C (p.Asn1041Thr)
n.3269A>C
c.2315A>C (p.Asn772Thr)
c.2702A>C (p.Asn901Thr)
c.2066A>C (p.Asn689Thr)
c.-874A>C (n.-874A>C)
5g.177211521A>GCA362322162NSD1c.2249A>G (p.Asn750Ser)
n.612+7229A>G
n.2705A>G
c.2813A>G (p.Asn938Ser)
n.2519A>G
c.3122A>G (p.Asn1041Ser)
n.3269A>G
c.2315A>G (p.Asn772Ser)
c.2702A>G (p.Asn901Ser)
c.2066A>G (p.Asn689Ser)
c.-874A>G (n.-874A>G)
5g.177211521A>TCA362322164NSD1c.2249A>T (p.Asn750Ile)
n.612+7229A>T
n.2705A>T
c.2813A>T (p.Asn938Ile)
n.2519A>T
c.3122A>T (p.Asn1041Ile)
n.3269A>T
c.2315A>T (p.Asn772Ile)
c.2702A>T (p.Asn901Ile)
c.2066A>T (p.Asn689Ile)
c.-874A>T (n.-874A>T)
5g.177211522C>ACA3577382NSD1c.2250C>A (p.Asn750Lys)
n.612+7230C>A
n.2706C>A
c.2814C>A (p.Asn938Lys)
n.2520C>A
c.3123C>A (p.Asn1041Lys)
n.3270C>A
c.2316C>A (p.Asn772Lys)
c.2703C>A (p.Asn901Lys)
c.2067C>A (p.Asn689Lys)
c.-873C>A (n.-873C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211522C=CA1603478072NSD1c.2250C= (p.Asn750=)
n.612+7230C=
n.2706C=
c.2814C= (p.Asn938=)
n.2520C=
c.3123C= (p.Asn1041=)
n.3270C=
c.2316C= (p.Asn772=)
c.2703C= (p.Asn901=)
c.2067C= (p.Asn689=)
c.-873C= (n.-873C=)
5g.177211522C>GCA362322167NSD1c.2250C>G (p.Asn750Lys)
n.612+7230C>G
n.2706C>G
c.2814C>G (p.Asn938Lys)
n.2520C>G
c.3123C>G (p.Asn1041Lys)
n.3270C>G
c.2316C>G (p.Asn772Lys)
c.2703C>G (p.Asn901Lys)
c.2067C>G (p.Asn689Lys)
c.-873C>G (n.-873C>G)
5g.177211522C>TCA447960901NSD1c.2250C>T (p.Asn750=)
n.612+7230C>T
n.2706C>T
c.2814C>T (p.Asn938=)
n.2520C>T
c.3123C>T (p.Asn1041=)
n.3270C>T
c.2316C>T (p.Asn772=)
c.2703C>T (p.Asn901=)
c.2067C>T (p.Asn689=)
c.-873C>T (n.-873C>T)
dbSNP gnomAD v3 gnomAD v4
5g.177211523A=CA1603478076NSD1c.2251A= (p.Thr751=)
n.612+7231A=
n.2707A=
c.2815A= (p.Thr939=)
n.2521A=
c.3124A= (p.Thr1042=)
n.3271A=
c.2317A= (p.Thr773=)
c.2704A= (p.Thr902=)
c.2068A= (p.Thr690=)
c.-872A= (n.-872A=)
5g.177211523A>CCA362322170NSD1c.2251A>C (p.Thr751Pro)
n.612+7231A>C
n.2707A>C
c.2815A>C (p.Thr939Pro)
n.2521A>C
c.3124A>C (p.Thr1042Pro)
n.3271A>C
c.2317A>C (p.Thr773Pro)
c.2704A>C (p.Thr902Pro)
c.2068A>C (p.Thr690Pro)
c.-872A>C (n.-872A>C)
5g.177211523A>GCA362322171NSD1c.2251A>G (p.Thr751Ala)
n.612+7231A>G
n.2707A>G
c.2815A>G (p.Thr939Ala)
n.2521A>G
c.3124A>G (p.Thr1042Ala)
n.3271A>G
c.2317A>G (p.Thr773Ala)
c.2704A>G (p.Thr902Ala)
c.2068A>G (p.Thr690Ala)
c.-872A>G (n.-872A>G)
dbSNP gnomAD v2 gnomAD v4
5g.177211523A>TCA362322174NSD1c.2251A>T (p.Thr751Ser)
n.612+7231A>T
n.2707A>T
c.2815A>T (p.Thr939Ser)
n.2521A>T
c.3124A>T (p.Thr1042Ser)
n.3271A>T
c.2317A>T (p.Thr773Ser)
c.2704A>T (p.Thr902Ser)
c.2068A>T (p.Thr690Ser)
c.-872A>T (n.-872A>T)
5g.177211524C>ACA362322180NSD1c.2252C>A (p.Thr751Lys)
n.612+7232C>A
n.2708C>A
c.2816C>A (p.Thr939Lys)
n.2522C>A
c.3125C>A (p.Thr1042Lys)
n.3272C>A
c.2318C>A (p.Thr773Lys)
c.2705C>A (p.Thr902Lys)
c.2069C>A (p.Thr690Lys)
c.-871C>A (n.-871C>A)
5g.177211524C=CA1603478083NSD1c.2252C= (p.Thr751=)
n.612+7232C=
n.2708C=
c.2816C= (p.Thr939=)
n.2522C=
c.3125C= (p.Thr1042=)
n.3272C=
c.2318C= (p.Thr773=)
c.2705C= (p.Thr902=)
c.2069C= (p.Thr690=)
c.-871C= (n.-871C=)
5g.177211524C>GCA3577383NSD1c.2252C>G (p.Thr751Arg)
n.612+7232C>G
n.2708C>G
c.2816C>G (p.Thr939Arg)
n.2522C>G
c.3125C>G (p.Thr1042Arg)
n.3272C>G
c.2318C>G (p.Thr773Arg)
c.2705C>G (p.Thr902Arg)
c.2069C>G (p.Thr690Arg)
c.-871C>G (n.-871C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211524C>TCA362322178NSD1c.2252C>T (p.Thr751Ile)
n.612+7232C>T
n.2708C>T
c.2816C>T (p.Thr939Ile)
n.2522C>T
c.3125C>T (p.Thr1042Ile)
n.3272C>T
c.2318C>T (p.Thr773Ile)
c.2705C>T (p.Thr902Ile)
c.2069C>T (p.Thr690Ile)
c.-871C>T (n.-871C>T)
dbSNP gnomAD v4
5g.177211524dupCA2695202825NSD1c.2252dup (p.Val752SerfsTer4)
n.612+7232dup
n.2708dup
c.2816dup (p.Val940SerfsTer4)
n.2522dup
c.3125dup (p.Val1043SerfsTer4)
n.3272dup
c.2318dup (p.Val774SerfsTer4)
c.2705dup (p.Val903SerfsTer4)
c.2069dup (p.Val691SerfsTer4)
c.-871dup (n.-871dup)
5g.177211525A=CA1603478085NSD1c.2253A= (p.Thr751=)
n.612+7233A=
n.2709A=
c.2817A= (p.Thr939=)
n.2523A=
c.3126A= (p.Thr1042=)
n.3273A=
c.2319A= (p.Thr773=)
c.2706A= (p.Thr902=)
c.2070A= (p.Thr690=)
c.-870A= (n.-870A=)
5g.177211525A>CCA447960905NSD1c.2253A>C (p.Thr751=)
n.612+7233A>C
n.2709A>C
c.2817A>C (p.Thr939=)
n.2523A>C
c.3126A>C (p.Thr1042=)
n.3273A>C
c.2319A>C (p.Thr773=)
c.2706A>C (p.Thr902=)
c.2070A>C (p.Thr690=)
c.-870A>C (n.-870A>C)
5g.177211525A>GCA447960906NSD1c.2253A>G (p.Thr751=)
n.612+7233A>G
n.2709A>G
c.2817A>G (p.Thr939=)
n.2523A>G
c.3126A>G (p.Thr1042=)
n.3273A>G
c.2319A>G (p.Thr773=)
c.2706A>G (p.Thr902=)
c.2070A>G (p.Thr690=)
c.-870A>G (n.-870A>G)
dbSNP
5g.177211525A>TCA447960907NSD1c.2253A>T (p.Thr751=)
n.612+7233A>T
n.2709A>T
c.2817A>T (p.Thr939=)
n.2523A>T
c.3126A>T (p.Thr1042=)
n.3273A>T
c.2319A>T (p.Thr773=)
c.2706A>T (p.Thr902=)
c.2070A>T (p.Thr690=)
c.-870A>T (n.-870A>T)
5g.177211526G>ACA362322182NSD1c.2254G>A (p.Val752Met)
n.612+7234G>A
n.2710G>A
c.2818G>A (p.Val940Met)
n.2524G>A
c.3127G>A (p.Val1043Met)
n.3274G>A
c.2320G>A (p.Val774Met)
c.2707G>A (p.Val903Met)
c.2071G>A (p.Val691Met)
c.-869G>A (n.-869G>A)
dbSNP
5g.177211526G>CCA362322184NSD1c.2254G>C (p.Val752Leu)
n.612+7234G>C
n.2710G>C
c.2818G>C (p.Val940Leu)
n.2524G>C
c.3127G>C (p.Val1043Leu)
n.3274G>C
c.2320G>C (p.Val774Leu)
c.2707G>C (p.Val903Leu)
c.2071G>C (p.Val691Leu)
c.-869G>C (n.-869G>C)
dbSNP
5g.177211526G=CA1603478087NSD1c.2254G= (p.Val752=)
n.612+7234G=
n.2710G=
c.2818G= (p.Val940=)
n.2524G=
c.3127G= (p.Val1043=)
n.3274G=
c.2320G= (p.Val774=)
c.2707G= (p.Val903=)
c.2071G= (p.Val691=)
c.-869G= (n.-869G=)
5g.177211526G>TCA362322186NSD1c.2254G>T (p.Val752Leu)
n.612+7234G>T
n.2710G>T
c.2818G>T (p.Val940Leu)
n.2524G>T
c.3127G>T (p.Val1043Leu)
n.3274G>T
c.2320G>T (p.Val774Leu)
c.2707G>T (p.Val903Leu)
c.2071G>T (p.Val691Leu)
c.-869G>T (n.-869G>T)
5g.177211527T>ACA362322189NSD1c.2255T>A (p.Val752Glu)
n.612+7235T>A
n.2711T>A
c.2819T>A (p.Val940Glu)
n.2525T>A
c.3128T>A (p.Val1043Glu)
n.3275T>A
c.2321T>A (p.Val774Glu)
c.2708T>A (p.Val903Glu)
c.2072T>A (p.Val691Glu)
c.-868T>A (n.-868T>A)
dbSNP
5g.177211527T>CCA362322190NSD1c.2255T>C (p.Val752Ala)
n.612+7235T>C
n.2711T>C
c.2819T>C (p.Val940Ala)
n.2525T>C
c.3128T>C (p.Val1043Ala)
n.3275T>C
c.2321T>C (p.Val774Ala)
c.2708T>C (p.Val903Ala)
c.2072T>C (p.Val691Ala)
c.-868T>C (n.-868T>C)
gnomAD v4
5g.177211527T>GCA362322193NSD1c.2255T>G (p.Val752Gly)
n.612+7235T>G
n.2711T>G
c.2819T>G (p.Val940Gly)
n.2525T>G
c.3128T>G (p.Val1043Gly)
n.3275T>G
c.2321T>G (p.Val774Gly)
c.2708T>G (p.Val903Gly)
c.2072T>G (p.Val691Gly)
c.-868T>G (n.-868T>G)
gnomAD v4
5g.177211528G>ACA447960912NSD1c.2256G>A (p.Val752=)
n.612+7236G>A
n.2712G>A
c.2820G>A (p.Val940=)
n.2526G>A
c.3129G>A (p.Val1043=)
n.3276G>A
c.2322G>A (p.Val774=)
c.2709G>A (p.Val903=)
c.2073G>A (p.Val691=)
c.-867G>A (n.-867G>A)
dbSNP
5g.177211528G>CCA447960913NSD1c.2256G>C (p.Val752=)
n.612+7236G>C
n.2712G>C
c.2820G>C (p.Val940=)
n.2526G>C
c.3129G>C (p.Val1043=)
n.3276G>C
c.2322G>C (p.Val774=)
c.2709G>C (p.Val903=)
c.2073G>C (p.Val691=)
c.-867G>C (n.-867G>C)
5g.177211528G>TCA447960914NSD1c.2256G>T (p.Val752=)
n.612+7236G>T
n.2712G>T
c.2820G>T (p.Val940=)
n.2526G>T
c.3129G>T (p.Val1043=)
n.3276G>T
c.2322G>T (p.Val774=)
c.2709G>T (p.Val903=)
c.2073G>T (p.Val691=)
c.-867G>T (n.-867G>T)
5g.177211529A>CCA362322196NSD1c.2257A>C (p.Asn753His)
n.612+7237A>C
n.2713A>C
c.2821A>C (p.Asn941His)
n.2527A>C
c.3130A>C (p.Asn1044His)
n.3277A>C
c.2323A>C (p.Asn775His)
c.2710A>C (p.Asn904His)
c.2074A>C (p.Asn692His)
c.-866A>C (n.-866A>C)
5g.177211529A>GCA362322197NSD1c.2257A>G (p.Asn753Asp)
n.612+7237A>G
n.2713A>G
c.2821A>G (p.Asn941Asp)
n.2527A>G
c.3130A>G (p.Asn1044Asp)
n.3277A>G
c.2323A>G (p.Asn775Asp)
c.2710A>G (p.Asn904Asp)
c.2074A>G (p.Asn692Asp)
c.-866A>G (n.-866A>G)
5g.177211529A>TCA362322199NSD1c.2257A>T (p.Asn753Tyr)
n.612+7237A>T
n.2713A>T
c.2821A>T (p.Asn941Tyr)
n.2527A>T
c.3130A>T (p.Asn1044Tyr)
n.3277A>T
c.2323A>T (p.Asn775Tyr)
c.2710A>T (p.Asn904Tyr)
c.2074A>T (p.Asn692Tyr)
c.-866A>T (n.-866A>T)
5g.177211530A>CCA362322203NSD1c.2258A>C (p.Asn753Thr)
n.612+7238A>C
n.2714A>C
c.2822A>C (p.Asn941Thr)
n.2528A>C
c.3131A>C (p.Asn1044Thr)
n.3278A>C
c.2324A>C (p.Asn775Thr)
c.2711A>C (p.Asn904Thr)
c.2075A>C (p.Asn692Thr)
c.-865A>C (n.-865A>C)
5g.177211530A>GCA362322205NSD1c.2258A>G (p.Asn753Ser)
n.612+7238A>G
n.2714A>G
c.2822A>G (p.Asn941Ser)
n.2528A>G
c.3131A>G (p.Asn1044Ser)
n.3278A>G
c.2324A>G (p.Asn775Ser)
c.2711A>G (p.Asn904Ser)
c.2075A>G (p.Asn692Ser)
c.-865A>G (n.-865A>G)
5g.177211530A>TCA362322207NSD1c.2258A>T (p.Asn753Ile)
n.612+7238A>T
n.2714A>T
c.2822A>T (p.Asn941Ile)
n.2528A>T
c.3131A>T (p.Asn1044Ile)
n.3278A>T
c.2324A>T (p.Asn775Ile)
c.2711A>T (p.Asn904Ile)
c.2075A>T (p.Asn692Ile)
c.-865A>T (n.-865A>T)
5g.177211531C>ACA362322211NSD1c.2259C>A (p.Asn753Lys)
n.612+7239C>A
n.2715C>A
c.2823C>A (p.Asn941Lys)
n.2529C>A
c.3132C>A (p.Asn1044Lys)
n.3279C>A
c.2325C>A (p.Asn775Lys)
c.2712C>A (p.Asn904Lys)
c.2076C>A (p.Asn692Lys)
c.-864C>A (n.-864C>A)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177211531C=CA1603478093NSD1c.2259C= (p.Asn753=)
n.612+7239C=
n.2715C=
c.2823C= (p.Asn941=)
n.2529C=
c.3132C= (p.Asn1044=)
n.3279C=
c.2325C= (p.Asn775=)
c.2712C= (p.Asn904=)
c.2076C= (p.Asn692=)
c.-864C= (n.-864C=)
5g.177211531C>GCA362322209NSD1c.2259C>G (p.Asn753Lys)
n.612+7239C>G
n.2715C>G
c.2823C>G (p.Asn941Lys)
n.2529C>G
c.3132C>G (p.Asn1044Lys)
n.3279C>G
c.2325C>G (p.Asn775Lys)
c.2712C>G (p.Asn904Lys)
c.2076C>G (p.Asn692Lys)
c.-864C>G (n.-864C>G)
5g.177211531C>TCA447960916NSD1c.2259C>T (p.Asn753=)
n.612+7239C>T
n.2715C>T
c.2823C>T (p.Asn941=)
n.2529C>T
c.3132C>T (p.Asn1044=)
n.3279C>T
c.2325C>T (p.Asn775=)
c.2712C>T (p.Asn904=)
c.2076C>T (p.Asn692=)
c.-864C>T (n.-864C>T)
5g.177211532C>ACA362322214NSD1c.2260C>A (p.Arg754Ser)
n.612+7240C>A
n.2716C>A
c.2824C>A (p.Arg942Ser)
n.2530C>A
c.3133C>A (p.Arg1045Ser)
n.3280C>A
c.2326C>A (p.Arg776Ser)
c.2713C>A (p.Arg905Ser)
c.2077C>A (p.Arg693Ser)
c.-863C>A (n.-863C>A)
gnomAD v4
5g.177211532C=CA1603478100NSD1c.2260C= (p.Arg754=)
n.612+7240C=
n.2716C=
c.2824C= (p.Arg942=)
n.2530C=
c.3133C= (p.Arg1045=)
n.3280C=
c.2326C= (p.Arg776=)
c.2713C= (p.Arg905=)
c.2077C= (p.Arg693=)
c.-863C= (n.-863C=)
5g.177211532C>GCA362322218NSD1c.2260C>G (p.Arg754Gly)
n.612+7240C>G
n.2716C>G
c.2824C>G (p.Arg942Gly)
n.2530C>G
c.3133C>G (p.Arg1045Gly)
n.3280C>G
c.2326C>G (p.Arg776Gly)
c.2713C>G (p.Arg905Gly)
c.2077C>G (p.Arg693Gly)
c.-863C>G (n.-863C>G)
5g.177211532C>TCA3577384NSD1c.2260C>T (p.Arg754Cys)
n.612+7240C>T
n.2716C>T
c.2824C>T (p.Arg942Cys)
n.2530C>T
c.3133C>T (p.Arg1045Cys)
n.3280C>T
c.2326C>T (p.Arg776Cys)
c.2713C>T (p.Arg905Cys)
c.2077C>T (p.Arg693Cys)
c.-863C>T (n.-863C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211533G>ACA362322220NSD1c.2261G>A (p.Arg754His)
n.612+7241G>A
n.2717G>A
c.2825G>A (p.Arg942His)
n.2531G>A
c.3134G>A (p.Arg1045His)
n.3281G>A
c.2327G>A (p.Arg776His)
c.2714G>A (p.Arg905His)
c.2078G>A (p.Arg693His)
c.-862G>A (n.-862G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211533G>CCA362322224NSD1c.2261G>C (p.Arg754Pro)
n.612+7241G>C
n.2717G>C
c.2825G>C (p.Arg942Pro)
n.2531G>C
c.3134G>C (p.Arg1045Pro)
n.3281G>C
c.2327G>C (p.Arg776Pro)
c.2714G>C (p.Arg905Pro)
c.2078G>C (p.Arg693Pro)
c.-862G>C (n.-862G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211533G=CA1603478115NSD1c.2261G= (p.Arg754=)
n.612+7241G=
n.2717G=
c.2825G= (p.Arg942=)
n.2531G=
c.3134G= (p.Arg1045=)
n.3281G=
c.2327G= (p.Arg776=)
c.2714G= (p.Arg905=)
c.2078G= (p.Arg693=)
c.-862G= (n.-862G=)
5g.177211533G>TCA362322222NSD1c.2261G>T (p.Arg754Leu)
n.612+7241G>T
n.2717G>T
c.2825G>T (p.Arg942Leu)
n.2531G>T
c.3134G>T (p.Arg1045Leu)
n.3281G>T
c.2327G>T (p.Arg776Leu)
c.2714G>T (p.Arg905Leu)
c.2078G>T (p.Arg693Leu)
c.-862G>T (n.-862G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211534T>ACA447960918NSD1c.2262T>A (p.Arg754=)
n.612+7242T>A
n.2718T>A
c.2826T>A (p.Arg942=)
n.2532T>A
c.3135T>A (p.Arg1045=)
n.3282T>A
c.2328T>A (p.Arg776=)
c.2715T>A (p.Arg905=)
c.2079T>A (p.Arg693=)
c.-861T>A (n.-861T>A)
dbSNP
5g.177211534T>CCA447960920NSD1c.2262T>C (p.Arg754=)
n.612+7242T>C
n.2718T>C
c.2826T>C (p.Arg942=)
n.2532T>C
c.3135T>C (p.Arg1045=)
n.3282T>C
c.2328T>C (p.Arg776=)
c.2715T>C (p.Arg905=)
c.2079T>C (p.Arg693=)
c.-861T>C (n.-861T>C)
5g.177211534T>GCA447960921NSD1c.2262T>G (p.Arg754=)
n.612+7242T>G
n.2718T>G
c.2826T>G (p.Arg942=)
n.2532T>G
c.3135T>G (p.Arg1045=)
n.3282T>G
c.2328T>G (p.Arg776=)
c.2715T>G (p.Arg905=)
c.2079T>G (p.Arg693=)
c.-861T>G (n.-861T>G)
5g.177211535A>CCA362322228NSD1c.2263A>C (p.Lys755Gln)
n.612+7243A>C
n.2719A>C
c.2827A>C (p.Lys943Gln)
n.2533A>C
c.3136A>C (p.Lys1046Gln)
n.3283A>C
c.2329A>C (p.Lys777Gln)
c.2716A>C (p.Lys906Gln)
c.2080A>C (p.Lys694Gln)
c.-860A>C (n.-860A>C)
5g.177211535A>GCA362322231NSD1c.2263A>G (p.Lys755Glu)
n.612+7243A>G
n.2719A>G
c.2827A>G (p.Lys943Glu)
n.2533A>G
c.3136A>G (p.Lys1046Glu)
n.3283A>G
c.2329A>G (p.Lys777Glu)
c.2716A>G (p.Lys906Glu)
c.2080A>G (p.Lys694Glu)
c.-860A>G (n.-860A>G)
5g.177211535A>TCA362322233NSD1c.2263A>T (p.Lys755Ter)
n.612+7243A>T
n.2719A>T
c.2827A>T (p.Lys943Ter)
n.2533A>T
c.3136A>T (p.Lys1046Ter)
n.3283A>T
c.2329A>T (p.Lys777Ter)
c.2716A>T (p.Lys906Ter)
c.2080A>T (p.Lys694Ter)
c.-860A>T (n.-860A>T)
5g.177211537delCA2711100536NSD1c.2265del (p.Ala756ProfsTer2)
n.612+7245del
n.2721del
c.2829del (p.Ala944ProfsTer2)
n.2535del
c.3138del (p.Ala1047ProfsTer2)
n.3285del
c.2331del (p.Ala778ProfsTer2)
c.2718del (p.Ala907ProfsTer2)
c.2082del (p.Ala695ProfsTer2)
c.-858del (n.-858del)
dbSNP
5g.177211536A>CCA362322236NSD1c.2264A>C (p.Lys755Thr)
n.612+7244A>C
n.2720A>C
c.2828A>C (p.Lys943Thr)
n.2534A>C
c.3137A>C (p.Lys1046Thr)
n.3284A>C
c.2330A>C (p.Lys777Thr)
c.2717A>C (p.Lys906Thr)
c.2081A>C (p.Lys694Thr)
c.-859A>C (n.-859A>C)
5g.177211536A>GCA362322238NSD1c.2264A>G (p.Lys755Arg)
n.612+7244A>G
n.2720A>G
c.2828A>G (p.Lys943Arg)
n.2534A>G
c.3137A>G (p.Lys1046Arg)
n.3284A>G
c.2330A>G (p.Lys777Arg)
c.2717A>G (p.Lys906Arg)
c.2081A>G (p.Lys694Arg)
c.-859A>G (n.-859A>G)
dbSNP
5g.177211536A>TCA362322240NSD1c.2264A>T (p.Lys755Ile)
n.612+7244A>T
n.2720A>T
c.2828A>T (p.Lys943Ile)
n.2534A>T
c.3137A>T (p.Lys1046Ile)
n.3284A>T
c.2330A>T (p.Lys777Ile)
c.2717A>T (p.Lys906Ile)
c.2081A>T (p.Lys694Ile)
c.-859A>T (n.-859A>T)
5g.177211537A=CA1603478147NSD1c.2265A= (p.Lys755=)
n.612+7245A=
n.2721A=
c.2829A= (p.Lys943=)
n.2535A=
c.3138A= (p.Lys1046=)
n.3285A=
c.2331A= (p.Lys777=)
c.2718A= (p.Lys906=)
c.2082A= (p.Lys694=)
c.-858A= (n.-858A=)
5g.177211537A>CCA362322242NSD1c.2265A>C (p.Lys755Asn)
n.612+7245A>C
n.2721A>C
c.2829A>C (p.Lys943Asn)
n.2535A>C
c.3138A>C (p.Lys1046Asn)
n.3285A>C
c.2331A>C (p.Lys777Asn)
c.2718A>C (p.Lys906Asn)
c.2082A>C (p.Lys694Asn)
c.-858A>C (n.-858A>C)
dbSNP gnomAD v2 gnomAD v4
5g.177211537A>GCA132831057NSD1c.2265A>G (p.Lys755=)
n.612+7245A>G
n.2721A>G
c.2829A>G (p.Lys943=)
n.2535A>G
c.3138A>G (p.Lys1046=)
n.3285A>G
c.2331A>G (p.Lys777=)
c.2718A>G (p.Lys906=)
c.2082A>G (p.Lys694=)
c.-858A>G (n.-858A>G)
dbSNP gnomAD v2
5g.177211537A>TCA3577385NSD1c.2265A>T (p.Lys755Asn)
n.612+7245A>T
n.2721A>T
c.2829A>T (p.Lys943Asn)
n.2535A>T
c.3138A>T (p.Lys1046Asn)
n.3285A>T
c.2331A>T (p.Lys777Asn)
c.2718A>T (p.Lys906Asn)
c.2082A>T (p.Lys694Asn)
c.-858A>T (n.-858A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211538G>ACA362322245NSD1c.2266G>A (p.Ala756Thr)
n.612+7246G>A
n.2722G>A
c.2830G>A (p.Ala944Thr)
n.2536G>A
c.3139G>A (p.Ala1047Thr)
n.3286G>A
c.2332G>A (p.Ala778Thr)
c.2719G>A (p.Ala907Thr)
c.2083G>A (p.Ala695Thr)
c.-857G>A (n.-857G>A)
5g.177211538G>CCA362322247NSD1c.2266G>C (p.Ala756Pro)
n.612+7246G>C
n.2722G>C
c.2830G>C (p.Ala944Pro)
n.2536G>C
c.3139G>C (p.Ala1047Pro)
n.3286G>C
c.2332G>C (p.Ala778Pro)
c.2719G>C (p.Ala907Pro)
c.2083G>C (p.Ala695Pro)
c.-857G>C (n.-857G>C)
5g.177211538G>TCA362322249NSD1c.2266G>T (p.Ala756Ser)
n.612+7246G>T
n.2722G>T
c.2830G>T (p.Ala944Ser)
n.2536G>T
c.3139G>T (p.Ala1047Ser)
n.3286G>T
c.2332G>T (p.Ala778Ser)
c.2719G>T (p.Ala907Ser)
c.2083G>T (p.Ala695Ser)
c.-857G>T (n.-857G>T)
5g.177211539C>ACA362322257NSD1c.2267C>A (p.Ala756Asp)
n.612+7247C>A
n.2723C>A
c.2831C>A (p.Ala944Asp)
n.2537C>A
c.3140C>A (p.Ala1047Asp)
n.3287C>A
c.2333C>A (p.Ala778Asp)
c.2720C>A (p.Ala907Asp)
c.2084C>A (p.Ala695Asp)
c.-856C>A (n.-856C>A)
dbSNP
5g.177211539C=CA1603478156NSD1c.2267C= (p.Ala756=)
n.612+7247C=
n.2723C=
c.2831C= (p.Ala944=)
n.2537C=
c.3140C= (p.Ala1047=)
n.3287C=
c.2333C= (p.Ala778=)
c.2720C= (p.Ala907=)
c.2084C= (p.Ala695=)
c.-856C= (n.-856C=)
5g.177211539C>GCA362322254NSD1c.2267C>G (p.Ala756Gly)
n.612+7247C>G
n.2723C>G
c.2831C>G (p.Ala944Gly)
n.2537C>G
c.3140C>G (p.Ala1047Gly)
n.3287C>G
c.2333C>G (p.Ala778Gly)
c.2720C>G (p.Ala907Gly)
c.2084C>G (p.Ala695Gly)
c.-856C>G (n.-856C>G)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177211539C>TCA362322252NSD1c.2267C>T (p.Ala756Val)
n.612+7247C>T
n.2723C>T
c.2831C>T (p.Ala944Val)
n.2537C>T
c.3140C>T (p.Ala1047Val)
n.3287C>T
c.2333C>T (p.Ala778Val)
c.2720C>T (p.Ala907Val)
c.2084C>T (p.Ala695Val)
c.-856C>T (n.-856C>T)
dbSNP gnomAD v2
5g.177211540delCA2695202826NSD1c.2268del (p.Leu757Ter)
n.612+7248del
n.2724del
c.2832del (p.Leu945Ter)
n.2538del
c.3141del (p.Leu1048Ter)
n.3288del
c.2334del (p.Leu779Ter)
c.2721del (p.Leu908Ter)
c.2085del (p.Leu696Ter)
c.-855del (n.-855del)
5g.177211540C>ACA447960925NSD1c.2268C>A (p.Ala756=)
n.612+7248C>A
n.2724C>A
c.2832C>A (p.Ala944=)
n.2538C>A
c.3141C>A (p.Ala1047=)
n.3288C>A
c.2334C>A (p.Ala778=)
c.2721C>A (p.Ala907=)
c.2085C>A (p.Ala695=)
c.-855C>A (n.-855C>A)
5g.177211540C>GCA447960926NSD1c.2268C>G (p.Ala756=)
n.612+7248C>G
n.2724C>G
c.2832C>G (p.Ala944=)
n.2538C>G
c.3141C>G (p.Ala1047=)
n.3288C>G
c.2334C>G (p.Ala778=)
c.2721C>G (p.Ala907=)
c.2085C>G (p.Ala695=)
c.-855C>G (n.-855C>G)
5g.177211540C>TCA447960927NSD1c.2268C>T (p.Ala756=)
n.612+7248C>T
n.2724C>T
c.2832C>T (p.Ala944=)
n.2538C>T
c.3141C>T (p.Ala1047=)
n.3288C>T
c.2334C>T (p.Ala778=)
c.2721C>T (p.Ala907=)
c.2085C>T (p.Ala695=)
c.-855C>T (n.-855C>T)
5g.177211541T>ACA362322260NSD1c.2269T>A (p.Leu757Ile)
n.612+7249T>A
n.2725T>A
c.2833T>A (p.Leu945Ile)
n.2539T>A
c.3142T>A (p.Leu1048Ile)
n.3289T>A
c.2335T>A (p.Leu779Ile)
c.2722T>A (p.Leu908Ile)
c.2086T>A (p.Leu696Ile)
c.-854T>A (n.-854T>A)
5g.177211541T>CCA447960928NSD1c.2269T>C (p.Leu757=)
n.612+7249T>C
n.2725T>C
c.2833T>C (p.Leu945=)
n.2539T>C
c.3142T>C (p.Leu1048=)
n.3289T>C
c.2335T>C (p.Leu779=)
c.2722T>C (p.Leu908=)
c.2086T>C (p.Leu696=)
c.-854T>C (n.-854T>C)
5g.177211541T>GCA362322264NSD1c.2269T>G (p.Leu757Val)
n.612+7249T>G
n.2725T>G
c.2833T>G (p.Leu945Val)
n.2539T>G
c.3142T>G (p.Leu1048Val)
n.3289T>G
c.2335T>G (p.Leu779Val)
c.2722T>G (p.Leu908Val)
c.2086T>G (p.Leu696Val)
c.-854T>G (n.-854T>G)
gnomAD v4
5g.177211542T>ACA362322268NSD1c.2270T>A (p.Leu757Ter)
n.612+7250T>A
n.2726T>A
c.2834T>A (p.Leu945Ter)
n.2540T>A
c.3143T>A (p.Leu1048Ter)
n.3290T>A
c.2336T>A (p.Leu779Ter)
c.2723T>A (p.Leu908Ter)
c.2087T>A (p.Leu696Ter)
c.-853T>A (n.-853T>A)
5g.177211542T>CCA362322271NSD1c.2270T>C (p.Leu757Ser)
n.612+7250T>C
n.2726T>C
c.2834T>C (p.Leu945Ser)
n.2540T>C
c.3143T>C (p.Leu1048Ser)
n.3290T>C
c.2336T>C (p.Leu779Ser)
c.2723T>C (p.Leu908Ser)
c.2087T>C (p.Leu696Ser)
c.-853T>C (n.-853T>C)
5g.177211542T>GCA362322274NSD1c.2270T>G (p.Leu757Ter)
n.612+7250T>G
n.2726T>G
c.2834T>G (p.Leu945Ter)
n.2540T>G
c.3143T>G (p.Leu1048Ter)
n.3290T>G
c.2336T>G (p.Leu779Ter)
c.2723T>G (p.Leu908Ter)
c.2087T>G (p.Leu696Ter)
c.-853T>G (n.-853T>G)
5g.177211542T=CA1603478162NSD1c.2270T= (p.Leu757=)
n.612+7250T=
n.2726T=
c.2834T= (p.Leu945=)
n.2540T=
c.3143T= (p.Leu1048=)
n.3290T=
c.2336T= (p.Leu779=)
c.2723T= (p.Leu908=)
c.2087T= (p.Leu696=)
c.-853T= (n.-853T=)
5g.177211543A=CA1603478175NSD1c.2271A= (p.Leu757=)
n.612+7251A=
n.2727A=
c.2835A= (p.Leu945=)
n.2541A=
c.3144A= (p.Leu1048=)
n.3291A=
c.2337A= (p.Leu779=)
c.2724A= (p.Leu908=)
c.2088A= (p.Leu696=)
c.-852A= (n.-852A=)
5g.177211543A>CCA362322279NSD1c.2271A>C (p.Leu757Phe)
n.612+7251A>C
n.2727A>C
c.2835A>C (p.Leu945Phe)
n.2541A>C
c.3144A>C (p.Leu1048Phe)
n.3291A>C
c.2337A>C (p.Leu779Phe)
c.2724A>C (p.Leu908Phe)
c.2088A>C (p.Leu696Phe)
c.-852A>C (n.-852A>C)
5g.177211543A>GCA447960932NSD1c.2271A>G (p.Leu757=)
n.612+7251A>G
n.2727A>G
c.2835A>G (p.Leu945=)
n.2541A>G
c.3144A>G (p.Leu1048=)
n.3291A>G
c.2337A>G (p.Leu779=)
c.2724A>G (p.Leu908=)
c.2088A>G (p.Leu696=)
c.-852A>G (n.-852A>G)
dbSNP gnomAD v2 gnomAD v4
5g.177211543A>TCA362322282NSD1c.2271A>T (p.Leu757Phe)
n.612+7251A>T
n.2727A>T
c.2835A>T (p.Leu945Phe)
n.2541A>T
c.3144A>T (p.Leu1048Phe)
n.3291A>T
c.2337A>T (p.Leu779Phe)
c.2724A>T (p.Leu908Phe)
c.2088A>T (p.Leu696Phe)
c.-852A>T (n.-852A>T)
5g.177211545dupCA319747NSD1c.2273dup (p.Thr759AspfsTer16)
n.612+7253dup
n.2729dup
c.2837dup (p.Thr947AspfsTer16)
n.2543dup
c.3146dup (p.Thr1050AspfsTer16)
n.3293dup
c.2339dup (p.Thr781AspfsTer16)
c.2726dup (p.Thr910AspfsTer16)
c.2090dup (p.Thr698AspfsTer16)
c.-850dup (n.-850dup)
ClinVar dbSNP
5g.177211544_177211545dupCA2499217771NSD1c.2272_2273dup (p.Thr759ArgfsTer8)
n.612+7252_612+7253dup
n.2728_2729dup
c.2836_2837dup (p.Thr947ArgfsTer8)
n.2542_2543dup
c.3145_3146dup (p.Thr1050ArgfsTer8)
n.3292_3293dup
c.2338_2339dup (p.Thr781ArgfsTer8)
c.2725_2726dup (p.Thr910ArgfsTer8)
c.2089_2090dup (p.Thr698ArgfsTer8)
c.-851_-850dup (n.-851_-850dup)
ClinVar dbSNP
5g.177211544A>CCA362322287NSD1c.2272A>C (p.Lys758Gln)
n.612+7252A>C
n.2728A>C
c.2836A>C (p.Lys946Gln)
n.2542A>C
c.3145A>C (p.Lys1049Gln)
n.3292A>C
c.2338A>C (p.Lys780Gln)
c.2725A>C (p.Lys909Gln)
c.2089A>C (p.Lys697Gln)
c.-851A>C (n.-851A>C)
5g.177211544A>GCA362322290NSD1c.2272A>G (p.Lys758Glu)
n.612+7252A>G
n.2728A>G
c.2836A>G (p.Lys946Glu)
n.2542A>G
c.3145A>G (p.Lys1049Glu)
n.3292A>G
c.2338A>G (p.Lys780Glu)
c.2725A>G (p.Lys909Glu)
c.2089A>G (p.Lys697Glu)
c.-851A>G (n.-851A>G)
5g.177211544A>TCA362322293NSD1c.2272A>T (p.Lys758Ter)
n.612+7252A>T
n.2728A>T
c.2836A>T (p.Lys946Ter)
n.2542A>T
c.3145A>T (p.Lys1049Ter)
n.3292A>T
c.2338A>T (p.Lys780Ter)
c.2725A>T (p.Lys909Ter)
c.2089A>T (p.Lys697Ter)
c.-851A>T (n.-851A>T)
5g.177211545A>CCA362322296NSD1c.2273A>C (p.Lys758Thr)
n.612+7253A>C
n.2729A>C
c.2837A>C (p.Lys946Thr)
n.2543A>C
c.3146A>C (p.Lys1049Thr)
n.3293A>C
c.2339A>C (p.Lys780Thr)
c.2726A>C (p.Lys909Thr)
c.2090A>C (p.Lys697Thr)
c.-850A>C (n.-850A>C)
5g.177211545A>GCA362322299NSD1c.2273A>G (p.Lys758Arg)
n.612+7253A>G
n.2729A>G
c.2837A>G (p.Lys946Arg)
n.2543A>G
c.3146A>G (p.Lys1049Arg)
n.3293A>G
c.2339A>G (p.Lys780Arg)
c.2726A>G (p.Lys909Arg)
c.2090A>G (p.Lys697Arg)
c.-850A>G (n.-850A>G)
5g.177211545A>TCA362322301NSD1c.2273A>T (p.Lys758Met)
n.612+7253A>T
n.2729A>T
c.2837A>T (p.Lys946Met)
n.2543A>T
c.3146A>T (p.Lys1049Met)
n.3293A>T
c.2339A>T (p.Lys780Met)
c.2726A>T (p.Lys909Met)
c.2090A>T (p.Lys697Met)
c.-850A>T (n.-850A>T)
5g.177211546G>ACA447960934NSD1c.2274G>A (p.Lys758=)
n.612+7254G>A
n.2730G>A
c.2838G>A (p.Lys946=)
n.2544G>A
c.3147G>A (p.Lys1049=)
n.3294G>A
c.2340G>A (p.Lys780=)
c.2727G>A (p.Lys909=)
c.2091G>A (p.Lys697=)
c.-849G>A (n.-849G>A)
5g.177211546G>CCA362322304NSD1c.2274G>C (p.Lys758Asn)
n.612+7254G>C
n.2730G>C
c.2838G>C (p.Lys946Asn)
n.2544G>C
c.3147G>C (p.Lys1049Asn)
n.3294G>C
c.2340G>C (p.Lys780Asn)
c.2727G>C (p.Lys909Asn)
c.2091G>C (p.Lys697Asn)
c.-849G>C (n.-849G>C)
5g.177211546G>TCA362322306NSD1c.2274G>T (p.Lys758Asn)
n.612+7254G>T
n.2730G>T
c.2838G>T (p.Lys946Asn)
n.2544G>T
c.3147G>T (p.Lys1049Asn)
n.3294G>T
c.2340G>T (p.Lys780Asn)
c.2727G>T (p.Lys909Asn)
c.2091G>T (p.Lys697Asn)
c.-849G>T (n.-849G>T)
5g.177211547A>CCA362322310NSD1c.2275A>C (p.Thr759Pro)
n.612+7255A>C
n.2731A>C
c.2839A>C (p.Thr947Pro)
n.2545A>C
c.3148A>C (p.Thr1050Pro)
n.3295A>C
c.2341A>C (p.Thr781Pro)
c.2728A>C (p.Thr910Pro)
c.2092A>C (p.Thr698Pro)
c.-848A>C (n.-848A>C)
5g.177211547A>GCA362322312NSD1c.2275A>G (p.Thr759Ala)
n.612+7255A>G
n.2731A>G
c.2839A>G (p.Thr947Ala)
n.2545A>G
c.3148A>G (p.Thr1050Ala)
n.3295A>G
c.2341A>G (p.Thr781Ala)
c.2728A>G (p.Thr910Ala)
c.2092A>G (p.Thr698Ala)
c.-848A>G (n.-848A>G)
5g.177211547A>TCA362322315NSD1c.2275A>T (p.Thr759Ser)
n.612+7255A>T
n.2731A>T
c.2839A>T (p.Thr947Ser)
n.2545A>T
c.3148A>T (p.Thr1050Ser)
n.3295A>T
c.2341A>T (p.Thr781Ser)
c.2728A>T (p.Thr910Ser)
c.2092A>T (p.Thr698Ser)
c.-848A>T (n.-848A>T)
5g.177211548C>ACA362322319NSD1c.2276C>A (p.Thr759Asn)
n.612+7256C>A
n.2732C>A
c.2840C>A (p.Thr947Asn)
n.2546C>A
c.3149C>A (p.Thr1050Asn)
n.3296C>A
c.2342C>A (p.Thr781Asn)
c.2729C>A (p.Thr910Asn)
c.2093C>A (p.Thr698Asn)
c.-847C>A (n.-847C>A)
dbSNP
5g.177211548C>GCA362322322NSD1c.2276C>G (p.Thr759Ser)
n.612+7256C>G
n.2732C>G
c.2840C>G (p.Thr947Ser)
n.2546C>G
c.3149C>G (p.Thr1050Ser)
n.3296C>G
c.2342C>G (p.Thr781Ser)
c.2729C>G (p.Thr910Ser)
c.2093C>G (p.Thr698Ser)
c.-847C>G (n.-847C>G)
dbSNP
5g.177211548C>TCA362322323NSD1c.2276C>T (p.Thr759Ile)
n.612+7256C>T
n.2732C>T
c.2840C>T (p.Thr947Ile)
n.2546C>T
c.3149C>T (p.Thr1050Ile)
n.3296C>T
c.2342C>T (p.Thr781Ile)
c.2729C>T (p.Thr910Ile)
c.2093C>T (p.Thr698Ile)
c.-847C>T (n.-847C>T)
gnomAD v4
5g.177211549C>ACA447960941NSD1c.2277C>A (p.Thr759=)
n.612+7257C>A
n.2733C>A
c.2841C>A (p.Thr947=)
n.2547C>A
c.3150C>A (p.Thr1050=)
n.3297C>A
c.2343C>A (p.Thr781=)
c.2730C>A (p.Thr910=)
c.2094C>A (p.Thr698=)
c.-846C>A (n.-846C>A)
dbSNP gnomAD v4
5g.177211549C=CA1603478179NSD1c.2277C= (p.Thr759=)
n.612+7257C=
n.2733C=
c.2841C= (p.Thr947=)
n.2547C=
c.3150C= (p.Thr1050=)
n.3297C=
c.2343C= (p.Thr781=)
c.2730C= (p.Thr910=)
c.2094C= (p.Thr698=)
c.-846C= (n.-846C=)
5g.177211549C>GCA447960942NSD1c.2277C>G (p.Thr759=)
n.612+7257C>G
n.2733C>G
c.2841C>G (p.Thr947=)
n.2547C>G
c.3150C>G (p.Thr1050=)
n.3297C>G
c.2343C>G (p.Thr781=)
c.2730C>G (p.Thr910=)
c.2094C>G (p.Thr698=)
c.-846C>G (n.-846C>G)
5g.177211549C>TCA223667NSD1c.2277C>T (p.Thr759=)
n.612+7257C>T
n.2733C>T
c.2841C>T (p.Thr947=)
n.2547C>T
c.3150C>T (p.Thr1050=)
n.3297C>T
c.2343C>T (p.Thr781=)
c.2730C>T (p.Thr910=)
c.2094C>T (p.Thr698=)
c.-846C>T (n.-846C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211550G>ACA3577386NSD1c.2278G>A (p.Glu760Lys)
n.612+7258G>A
n.2734G>A
c.2842G>A (p.Glu948Lys)
n.2548G>A
c.3151G>A (p.Glu1051Lys)
n.3298G>A
c.2344G>A (p.Glu782Lys)
c.2731G>A (p.Glu911Lys)
c.2095G>A (p.Glu699Lys)
c.-845G>A (n.-845G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211550G>CCA362322327NSD1c.2278G>C (p.Glu760Gln)
n.612+7258G>C
n.2734G>C
c.2842G>C (p.Glu948Gln)
n.2548G>C
c.3151G>C (p.Glu1051Gln)
n.3298G>C
c.2344G>C (p.Glu782Gln)
c.2731G>C (p.Glu911Gln)
c.2095G>C (p.Glu699Gln)
c.-845G>C (n.-845G>C)
5g.177211550G=CA1603478183NSD1c.2278G= (p.Glu760=)
n.612+7258G=
n.2734G=
c.2842G= (p.Glu948=)
n.2548G=
c.3151G= (p.Glu1051=)
n.3298G=
c.2344G= (p.Glu782=)
c.2731G= (p.Glu911=)
c.2095G= (p.Glu699=)
c.-845G= (n.-845G=)
5g.177211550G>TCA362322329NSD1c.2278G>T (p.Glu760Ter)
n.612+7258G>T
n.2734G>T
c.2842G>T (p.Glu948Ter)
n.2548G>T
c.3151G>T (p.Glu1051Ter)
n.3298G>T
c.2344G>T (p.Glu782Ter)
c.2731G>T (p.Glu911Ter)
c.2095G>T (p.Glu699Ter)
c.-845G>T (n.-845G>T)
5g.177211551A>CCA362322332NSD1c.2279A>C (p.Glu760Ala)
n.612+7259A>C
n.2735A>C
c.2843A>C (p.Glu948Ala)
n.2549A>C
c.3152A>C (p.Glu1051Ala)
n.3299A>C
c.2345A>C (p.Glu782Ala)
c.2732A>C (p.Glu911Ala)
c.2096A>C (p.Glu699Ala)
c.-844A>C (n.-844A>C)
5g.177211551A>GCA362322333NSD1c.2279A>G (p.Glu760Gly)
n.612+7259A>G
n.2735A>G
c.2843A>G (p.Glu948Gly)
n.2549A>G
c.3152A>G (p.Glu1051Gly)
n.3299A>G
c.2345A>G (p.Glu782Gly)
c.2732A>G (p.Glu911Gly)
c.2096A>G (p.Glu699Gly)
c.-844A>G (n.-844A>G)
5g.177211551A>TCA362322334NSD1c.2279A>T (p.Glu760Val)
n.612+7259A>T
n.2735A>T
c.2843A>T (p.Glu948Val)
n.2549A>T
c.3152A>T (p.Glu1051Val)
n.3299A>T
c.2345A>T (p.Glu782Val)
c.2732A>T (p.Glu911Val)
c.2096A>T (p.Glu699Val)
c.-844A>T (n.-844A>T)
5g.177211552G>ACA447960947NSD1c.2280G>A (p.Glu760=)
n.612+7260G>A
n.2736G>A
c.2844G>A (p.Glu948=)
n.2550G>A
c.3153G>A (p.Glu1051=)
n.3300G>A
c.2346G>A (p.Glu782=)
c.2733G>A (p.Glu911=)
c.2097G>A (p.Glu699=)
c.-843G>A (n.-843G>A)
5g.177211552G>CCA362322337NSD1c.2280G>C (p.Glu760Asp)
n.612+7260G>C
n.2736G>C
c.2844G>C (p.Glu948Asp)
n.2550G>C
c.3153G>C (p.Glu1051Asp)
n.3300G>C
c.2346G>C (p.Glu782Asp)
c.2733G>C (p.Glu911Asp)
c.2097G>C (p.Glu699Asp)
c.-843G>C (n.-843G>C)
5g.177211552G=CA1603478187NSD1c.2280G= (p.Glu760=)
n.612+7260G=
n.2736G=
c.2844G= (p.Glu948=)
n.2550G=
c.3153G= (p.Glu1051=)
n.3300G=
c.2346G= (p.Glu782=)
c.2733G= (p.Glu911=)
c.2097G= (p.Glu699=)
c.-843G= (n.-843G=)
5g.177211552G>TCA362322336NSD1c.2280G>T (p.Glu760Asp)
n.612+7260G>T
n.2736G>T
c.2844G>T (p.Glu948Asp)
n.2550G>T
c.3153G>T (p.Glu1051Asp)
n.3300G>T
c.2346G>T (p.Glu782Asp)
c.2733G>T (p.Glu911Asp)
c.2097G>T (p.Glu699Asp)
c.-843G>T (n.-843G>T)
dbSNP
5g.177211553C>ACA362322338NSD1c.2281C>A (p.Arg761Ser)
n.612+7261C>A
n.2737C>A
c.2845C>A (p.Arg949Ser)
n.2551C>A
c.3154C>A (p.Arg1052Ser)
n.3301C>A
c.2347C>A (p.Arg783Ser)
c.2734C>A (p.Arg912Ser)
c.2098C>A (p.Arg700Ser)
c.-842C>A (n.-842C>A)
dbSNP
5g.177211553C=CA1603478195NSD1c.2281C= (p.Arg761=)
n.612+7261C=
n.2737C=
c.2845C= (p.Arg949=)
n.2551C=
c.3154C= (p.Arg1052=)
n.3301C=
c.2347C= (p.Arg783=)
c.2734C= (p.Arg912=)
c.2098C= (p.Arg700=)
c.-842C= (n.-842C=)
5g.177211553C>GCA362322340NSD1c.2281C>G (p.Arg761Gly)
n.612+7261C>G
n.2737C>G
c.2845C>G (p.Arg949Gly)
n.2551C>G
c.3154C>G (p.Arg1052Gly)
n.3301C>G
c.2347C>G (p.Arg783Gly)
c.2734C>G (p.Arg912Gly)
c.2098C>G (p.Arg700Gly)
c.-842C>G (n.-842C>G)
5g.177211553C>TCA203122NSD1c.2281C>T (p.Arg761Cys)
n.612+7261C>T
n.2737C>T
c.2845C>T (p.Arg949Cys)
n.2551C>T
c.3154C>T (p.Arg1052Cys)
n.3301C>T
c.2347C>T (p.Arg783Cys)
c.2734C>T (p.Arg912Cys)
c.2098C>T (p.Arg700Cys)
c.-842C>T (n.-842C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211554G>ACA362322345NSD1c.2282G>A (p.Arg761His)
n.612+7262G>A
n.2738G>A
c.2846G>A (p.Arg949His)
n.2552G>A
c.3155G>A (p.Arg1052His)
n.3302G>A
c.2348G>A (p.Arg783His)
c.2735G>A (p.Arg912His)
c.2099G>A (p.Arg700His)
c.-841G>A (n.-841G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177211554G>CCA362322347NSD1c.2282G>C (p.Arg761Pro)
n.612+7262G>C
n.2738G>C
c.2846G>C (p.Arg949Pro)
n.2552G>C
c.3155G>C (p.Arg1052Pro)
n.3302G>C
c.2348G>C (p.Arg783Pro)
c.2735G>C (p.Arg912Pro)
c.2099G>C (p.Arg700Pro)
c.-841G>C (n.-841G>C)
5g.177211554G=CA1603478204NSD1c.2282G= (p.Arg761=)
n.612+7262G=
n.2738G=
c.2846G= (p.Arg949=)
n.2552G=
c.3155G= (p.Arg1052=)
n.3302G=
c.2348G= (p.Arg783=)
c.2735G= (p.Arg912=)
c.2099G= (p.Arg700=)
c.-841G= (n.-841G=)
5g.177211554G>TCA362322349NSD1c.2282G>T (p.Arg761Leu)
n.612+7262G>T
n.2738G>T
c.2846G>T (p.Arg949Leu)
n.2552G>T
c.3155G>T (p.Arg1052Leu)
n.3302G>T
c.2348G>T (p.Arg783Leu)
c.2735G>T (p.Arg912Leu)
c.2099G>T (p.Arg700Leu)
c.-841G>T (n.-841G>T)
5g.177211555C>ACA447960952NSD1c.2283C>A (p.Arg761=)
n.612+7263C>A
n.2739C>A
c.2847C>A (p.Arg949=)
n.2553C>A
c.3156C>A (p.Arg1052=)
n.3303C>A
c.2349C>A (p.Arg783=)
c.2736C>A (p.Arg912=)
c.2100C>A (p.Arg700=)
c.-840C>A (n.-840C>A)
5g.177211555C>GCA447960951NSD1c.2283C>G (p.Arg761=)
n.612+7263C>G
n.2739C>G
c.2847C>G (p.Arg949=)
n.2553C>G
c.3156C>G (p.Arg1052=)
n.3303C>G
c.2349C>G (p.Arg783=)
c.2736C>G (p.Arg912=)
c.2100C>G (p.Arg700=)
c.-840C>G (n.-840C>G)
5g.177211555C>TCA447960950NSD1c.2283C>T (p.Arg761=)
n.612+7263C>T
n.2739C>T
c.2847C>T (p.Arg949=)
n.2553C>T
c.3156C>T (p.Arg1052=)
n.3303C>T
c.2349C>T (p.Arg783=)
c.2736C>T (p.Arg912=)
c.2100C>T (p.Arg700=)
c.-840C>T (n.-840C>T)
5g.177211556A=CA1603478206NSD1c.2284A= (p.Lys762=)
n.612+7264A=
n.2740A=
c.2848A= (p.Lys950=)
n.2554A=
c.3157A= (p.Lys1053=)
n.3304A=
c.2350A= (p.Lys784=)
c.2737A= (p.Lys913=)
c.2101A= (p.Lys701=)
c.-839A= (n.-839A=)
5g.177211556A>CCA3577387NSD1c.2284A>C (p.Lys762Gln)
n.612+7264A>C
n.2740A>C
c.2848A>C (p.Lys950Gln)
n.2554A>C
c.3157A>C (p.Lys1053Gln)
n.3304A>C
c.2350A>C (p.Lys784Gln)
c.2737A>C (p.Lys913Gln)
c.2101A>C (p.Lys701Gln)
c.-839A>C (n.-839A>C)
dbSNP ExAC gnomAD v2
5g.177211556A>GCA362322354NSD1c.2284A>G (p.Lys762Glu)
n.612+7264A>G
n.2740A>G
c.2848A>G (p.Lys950Glu)
n.2554A>G
c.3157A>G (p.Lys1053Glu)
n.3304A>G
c.2350A>G (p.Lys784Glu)
c.2737A>G (p.Lys913Glu)
c.2101A>G (p.Lys701Glu)
c.-839A>G (n.-839A>G)
gnomAD v4
5g.177211556A>TCA362322356NSD1c.2284A>T (p.Lys762Ter)
n.612+7264A>T
n.2740A>T
c.2848A>T (p.Lys950Ter)
n.2554A>T
c.3157A>T (p.Lys1053Ter)
n.3304A>T
c.2350A>T (p.Lys784Ter)
c.2737A>T (p.Lys913Ter)
c.2101A>T (p.Lys701Ter)
c.-839A>T (n.-839A>T)
5g.177211559delCA2695202827NSD1c.2287del (p.Arg763GlufsTer3)
n.612+7267del
n.2743del
c.2851del (p.Arg951GlufsTer3)
n.2557del
c.3160del (p.Arg1054GlufsTer3)
n.3307del
c.2353del (p.Arg785GlufsTer3)
c.2740del (p.Arg914GlufsTer3)
c.2104del (p.Arg702GlufsTer3)
c.-836del (n.-836del)
5g.177211557A>CCA362322357NSD1c.2285A>C (p.Lys762Thr)
n.612+7265A>C
n.2741A>C
c.2849A>C (p.Lys950Thr)
n.2555A>C
c.3158A>C (p.Lys1053Thr)
n.3305A>C
c.2351A>C (p.Lys784Thr)
c.2738A>C (p.Lys913Thr)
c.2102A>C (p.Lys701Thr)
c.-838A>C (n.-838A>C)
5g.177211557A>GCA362322359NSD1c.2285A>G (p.Lys762Arg)
n.612+7265A>G
n.2741A>G
c.2849A>G (p.Lys950Arg)
n.2555A>G
c.3158A>G (p.Lys1053Arg)
n.3305A>G
c.2351A>G (p.Lys784Arg)
c.2738A>G (p.Lys913Arg)
c.2102A>G (p.Lys701Arg)
c.-838A>G (n.-838A>G)
5g.177211557A>TCA362322360NSD1c.2285A>T (p.Lys762Ile)
n.612+7265A>T
n.2741A>T
c.2849A>T (p.Lys950Ile)
n.2555A>T
c.3158A>T (p.Lys1053Ile)
n.3305A>T
c.2351A>T (p.Lys784Ile)
c.2738A>T (p.Lys913Ile)
c.2102A>T (p.Lys701Ile)
c.-838A>T (n.-838A>T)
5g.177211558A>CCA362322363NSD1c.2286A>C (p.Lys762Asn)
n.612+7266A>C
n.2742A>C
c.2850A>C (p.Lys950Asn)
n.2556A>C
c.3159A>C (p.Lys1053Asn)
n.3306A>C
c.2352A>C (p.Lys784Asn)
c.2739A>C (p.Lys913Asn)
c.2103A>C (p.Lys701Asn)
c.-837A>C (n.-837A>C)
5g.177211558A>GCA447960954NSD1c.2286A>G (p.Lys762=)
n.612+7266A>G
n.2742A>G
c.2850A>G (p.Lys950=)
n.2556A>G
c.3159A>G (p.Lys1053=)
n.3306A>G
c.2352A>G (p.Lys784=)
c.2739A>G (p.Lys913=)
c.2103A>G (p.Lys701=)
c.-837A>G (n.-837A>G)
5g.177211558A>TCA362322365NSD1c.2286A>T (p.Lys762Asn)
n.612+7266A>T
n.2742A>T
c.2850A>T (p.Lys950Asn)
n.2556A>T
c.3159A>T (p.Lys1053Asn)
n.3306A>T
c.2352A>T (p.Lys784Asn)
c.2739A>T (p.Lys913Asn)
c.2103A>T (p.Lys701Asn)
c.-837A>T (n.-837A>T)
5g.177211559A>CCA447960955NSD1c.2287A>C (p.Arg763=)
n.612+7267A>C
n.2743A>C
c.2851A>C (p.Arg951=)
n.2557A>C
c.3160A>C (p.Arg1054=)
n.3307A>C
c.2353A>C (p.Arg785=)
c.2740A>C (p.Arg914=)
c.2104A>C (p.Arg702=)
c.-836A>C (n.-836A>C)
5g.177211559A>GCA362322367NSD1c.2287A>G (p.Arg763Gly)
n.612+7267A>G
n.2743A>G
c.2851A>G (p.Arg951Gly)
n.2557A>G
c.3160A>G (p.Arg1054Gly)
n.3307A>G
c.2353A>G (p.Arg785Gly)
c.2740A>G (p.Arg914Gly)
c.2104A>G (p.Arg702Gly)
c.-836A>G (n.-836A>G)
gnomAD v4
5g.177211559A>TCA362322369NSD1c.2287A>T (p.Arg763Ter)
n.612+7267A>T
n.2743A>T
c.2851A>T (p.Arg951Ter)
n.2557A>T
c.3160A>T (p.Arg1054Ter)
n.3307A>T
c.2353A>T (p.Arg785Ter)
c.2740A>T (p.Arg914Ter)
c.2104A>T (p.Arg702Ter)
c.-836A>T (n.-836A>T)
5g.177211560G>ACA362322374NSD1c.2288G>A (p.Arg763Lys)
n.612+7268G>A
n.2744G>A
c.2852G>A (p.Arg951Lys)
n.2558G>A
c.3161G>A (p.Arg1054Lys)
n.3308G>A
c.2354G>A (p.Arg785Lys)
c.2741G>A (p.Arg914Lys)
c.2105G>A (p.Arg702Lys)
c.-835G>A (n.-835G>A)
dbSNP
5g.177211560G>CCA362322378NSD1c.2288G>C (p.Arg763Thr)
n.612+7268G>C
n.2744G>C
c.2852G>C (p.Arg951Thr)
n.2558G>C
c.3161G>C (p.Arg1054Thr)
n.3308G>C
c.2354G>C (p.Arg785Thr)
c.2741G>C (p.Arg914Thr)
c.2105G>C (p.Arg702Thr)
c.-835G>C (n.-835G>C)
dbSNP COSMIC COSMIC
5g.177211560G>TCA362322376NSD1c.2288G>T (p.Arg763Ile)
n.612+7268G>T
n.2744G>T
c.2852G>T (p.Arg951Ile)
n.2558G>T
c.3161G>T (p.Arg1054Ile)
n.3308G>T
c.2354G>T (p.Arg785Ile)
c.2741G>T (p.Arg914Ile)
c.2105G>T (p.Arg702Ile)
c.-835G>T (n.-835G>T)
5g.177211561A=CA1603478218NSD1c.2289A= (p.Arg763=)
n.612+7269A=
n.2745A=
c.2853A= (p.Arg951=)
n.2559A=
c.3162A= (p.Arg1054=)
n.3309A=
c.2355A= (p.Arg785=)
c.2742A= (p.Arg914=)
c.2106A= (p.Arg702=)
c.-834A= (n.-834A=)
5g.177211561A>CCA362322380NSD1c.2289A>C (p.Arg763Ser)
n.612+7269A>C
n.2745A>C
c.2853A>C (p.Arg951Ser)
n.2559A>C
c.3162A>C (p.Arg1054Ser)
n.3309A>C
c.2355A>C (p.Arg785Ser)
c.2742A>C (p.Arg914Ser)
c.2106A>C (p.Arg702Ser)
c.-834A>C (n.-834A>C)
5g.177211561A>GCA447960956NSD1c.2289A>G (p.Arg763=)
n.612+7269A>G
n.2745A>G
c.2853A>G (p.Arg951=)
n.2559A>G
c.3162A>G (p.Arg1054=)
n.3309A>G
c.2355A>G (p.Arg785=)
c.2742A>G (p.Arg914=)
c.2106A>G (p.Arg702=)
c.-834A>G (n.-834A>G)
dbSNP
5g.177211561A>TCA362322384NSD1c.2289A>T (p.Arg763Ser)
n.612+7269A>T
n.2745A>T
c.2853A>T (p.Arg951Ser)
n.2559A>T
c.3162A>T (p.Arg1054Ser)
n.3309A>T
c.2355A>T (p.Arg785Ser)
c.2742A>T (p.Arg914Ser)
c.2106A>T (p.Arg702Ser)
c.-834A>T (n.-834A>T)
5g.177211562A=CA1603478220NSD1c.2290A= (p.Lys764=)
n.612+7270A=
n.2746A=
c.2854A= (p.Lys952=)
n.2560A=
c.3163A= (p.Lys1055=)
n.3310A=
c.2356A= (p.Lys786=)
c.2743A= (p.Lys915=)
c.2107A= (p.Lys703=)
c.-833A= (n.-833A=)
5g.177211562A>CCA362322388NSD1c.2290A>C (p.Lys764Gln)
n.612+7270A>C
n.2746A>C
c.2854A>C (p.Lys952Gln)
n.2560A>C
c.3163A>C (p.Lys1055Gln)
n.3310A>C
c.2356A>C (p.Lys786Gln)
c.2743A>C (p.Lys915Gln)
c.2107A>C (p.Lys703Gln)
c.-833A>C (n.-833A>C)
5g.177211562A>GCA362322390NSD1c.2290A>G (p.Lys764Glu)
n.612+7270A>G
n.2746A>G
c.2854A>G (p.Lys952Glu)
n.2560A>G
c.3163A>G (p.Lys1055Glu)
n.3310A>G
c.2356A>G (p.Lys786Glu)
c.2743A>G (p.Lys915Glu)
c.2107A>G (p.Lys703Glu)
c.-833A>G (n.-833A>G)
dbSNP gnomAD v2 gnomAD v4
5g.177211562A>TCA362322392NSD1c.2290A>T (p.Lys764Ter)
n.612+7270A>T
n.2746A>T
c.2854A>T (p.Lys952Ter)
n.2560A>T
c.3163A>T (p.Lys1055Ter)
n.3310A>T
c.2356A>T (p.Lys786Ter)
c.2743A>T (p.Lys915Ter)
c.2107A>T (p.Lys703Ter)
c.-833A>T (n.-833A>T)
5g.177211563A=CA1603478229NSD1c.2291A= (p.Lys764=)
n.612+7271A=
n.2747A=
c.2855A= (p.Lys952=)
n.2561A=
c.3164A= (p.Lys1055=)
n.3311A=
c.2357A= (p.Lys786=)
c.2744A= (p.Lys915=)
c.2108A= (p.Lys703=)
c.-832A= (n.-832A=)
5g.177211563A>CCA362322397NSD1c.2291A>C (p.Lys764Thr)
n.612+7271A>C
n.2747A>C
c.2855A>C (p.Lys952Thr)
n.2561A>C
c.3164A>C (p.Lys1055Thr)
n.3311A>C
c.2357A>C (p.Lys786Thr)
c.2744A>C (p.Lys915Thr)
c.2108A>C (p.Lys703Thr)
c.-832A>C (n.-832A>C)
5g.177211563A>GCA362322400NSD1c.2291A>G (p.Lys764Arg)
n.612+7271A>G
n.2747A>G
c.2855A>G (p.Lys952Arg)
n.2561A>G
c.3164A>G (p.Lys1055Arg)
n.3311A>G
c.2357A>G (p.Lys786Arg)
c.2744A>G (p.Lys915Arg)
c.2108A>G (p.Lys703Arg)
c.-832A>G (n.-832A>G)
dbSNP gnomAD v2 gnomAD v4
5g.177211563A>TCA362322402NSD1c.2291A>T (p.Lys764Ile)
n.612+7271A>T
n.2747A>T
c.2855A>T (p.Lys952Ile)
n.2561A>T
c.3164A>T (p.Lys1055Ile)
n.3311A>T
c.2357A>T (p.Lys786Ile)
c.2744A>T (p.Lys915Ile)
c.2108A>T (p.Lys703Ile)
c.-832A>T (n.-832A>T)
5g.177211564A>CCA362322407NSD1c.2292A>C (p.Lys764Asn)
n.612+7272A>C
n.2748A>C
c.2856A>C (p.Lys952Asn)
n.2562A>C
c.3165A>C (p.Lys1055Asn)
n.3312A>C
c.2358A>C (p.Lys786Asn)
c.2745A>C (p.Lys915Asn)
c.2109A>C (p.Lys703Asn)
c.-831A>C (n.-831A>C)
5g.177211564A>GCA447960958NSD1c.2292A>G (p.Lys764=)
n.612+7272A>G
n.2748A>G
c.2856A>G (p.Lys952=)
n.2562A>G
c.3165A>G (p.Lys1055=)
n.3312A>G
c.2358A>G (p.Lys786=)
c.2745A>G (p.Lys915=)
c.2109A>G (p.Lys703=)
c.-831A>G (n.-831A>G)
5g.177211564A>TCA362322412NSD1c.2292A>T (p.Lys764Asn)
n.612+7272A>T
n.2748A>T
c.2856A>T (p.Lys952Asn)
n.2562A>T
c.3165A>T (p.Lys1055Asn)
n.3312A>T
c.2358A>T (p.Lys786Asn)
c.2745A>T (p.Lys915Asn)
c.2109A>T (p.Lys703Asn)
c.-831A>T (n.-831A>T)
5g.177211565C>ACA362322417NSD1c.2293C>A (p.Leu765Met)
n.612+7273C>A
n.2749C>A
c.2857C>A (p.Leu953Met)
n.2563C>A
c.3166C>A (p.Leu1056Met)
n.3313C>A
c.2359C>A (p.Leu787Met)
c.2746C>A (p.Leu916Met)
c.2110C>A (p.Leu704Met)
c.-830C>A (n.-830C>A)
dbSNP
5g.177211565C=CA1603478244NSD1c.2293C= (p.Leu765=)
n.612+7273C=
n.2749C=
c.2857C= (p.Leu953=)
n.2563C=
c.3166C= (p.Leu1056=)
n.3313C=
c.2359C= (p.Leu787=)
c.2746C= (p.Leu916=)
c.2110C= (p.Leu704=)
c.-830C= (n.-830C=)
5g.177211565C>GCA3577388NSD1c.2293C>G (p.Leu765Val)
n.612+7273C>G
n.2749C>G
c.2857C>G (p.Leu953Val)
n.2563C>G
c.3166C>G (p.Leu1056Val)
n.3313C>G
c.2359C>G (p.Leu787Val)
c.2746C>G (p.Leu916Val)
c.2110C>G (p.Leu704Val)
c.-830C>G (n.-830C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211565C>TCA447960959NSD1c.2293C>T (p.Leu765=)
n.612+7273C>T
n.2749C>T
c.2857C>T (p.Leu953=)
n.2563C>T
c.3166C>T (p.Leu1056=)
n.3313C>T
c.2359C>T (p.Leu787=)
c.2746C>T (p.Leu916=)
c.2110C>T (p.Leu704=)
c.-830C>T (n.-830C>T)
dbSNP
5g.177211566T>ACA362322423NSD1c.2294T>A (p.Leu765Gln)
n.612+7274T>A
n.2750T>A
c.2858T>A (p.Leu953Gln)
n.2564T>A
c.3167T>A (p.Leu1056Gln)
n.3314T>A
c.2360T>A (p.Leu787Gln)
c.2747T>A (p.Leu916Gln)
c.2111T>A (p.Leu704Gln)
c.-829T>A (n.-829T>A)
5g.177211566T>CCA362322418NSD1c.2294T>C (p.Leu765Pro)
n.612+7274T>C
n.2750T>C
c.2858T>C (p.Leu953Pro)
n.2564T>C
c.3167T>C (p.Leu1056Pro)
n.3314T>C
c.2360T>C (p.Leu787Pro)
c.2747T>C (p.Leu916Pro)
c.2111T>C (p.Leu704Pro)
c.-829T>C (n.-829T>C)
gnomAD v4
5g.177211566T>GCA362322421NSD1c.2294T>G (p.Leu765Arg)
n.612+7274T>G
n.2750T>G
c.2858T>G (p.Leu953Arg)
n.2564T>G
c.3167T>G (p.Leu1056Arg)
n.3314T>G
c.2360T>G (p.Leu787Arg)
c.2747T>G (p.Leu916Arg)
c.2111T>G (p.Leu704Arg)
c.-829T>G (n.-829T>G)
gnomAD v4
5g.177211567G>ACA447960963NSD1c.2295G>A (p.Leu765=)
n.612+7275G>A
n.2751G>A
c.2859G>A (p.Leu953=)
n.2565G>A
c.3168G>A (p.Leu1056=)
n.3315G>A
c.2361G>A (p.Leu787=)
c.2748G>A (p.Leu916=)
c.2112G>A (p.Leu704=)
c.-828G>A (n.-828G>A)
dbSNP
5g.177211567G>CCA447960964NSD1c.2295G>C (p.Leu765=)
n.612+7275G>C
n.2751G>C
c.2859G>C (p.Leu953=)
n.2565G>C
c.3168G>C (p.Leu1056=)
n.3315G>C
c.2361G>C (p.Leu787=)
c.2748G>C (p.Leu916=)
c.2112G>C (p.Leu704=)
c.-828G>C (n.-828G>C)
5g.177211567G>TCA447960965NSD1c.2295G>T (p.Leu765=)
n.612+7275G>T
n.2751G>T
c.2859G>T (p.Leu953=)
n.2565G>T
c.3168G>T (p.Leu1056=)
n.3315G>T
c.2361G>T (p.Leu787=)
c.2748G>T (p.Leu916=)
c.2112G>T (p.Leu704=)
c.-828G>T (n.-828G>T)
5g.177211568A=CA1603478252NSD1c.2296A= (p.Asn766=)
n.612+7276A=
n.2752A=
c.2860A= (p.Asn954=)
n.2566A=
c.3169A= (p.Asn1057=)
n.3316A=
c.2362A= (p.Asn788=)
c.2749A= (p.Asn917=)
c.2113A= (p.Asn705=)
c.-827A= (n.-827A=)
5g.177211568A>CCA362322430NSD1c.2296A>C (p.Asn766His)
n.612+7276A>C
n.2752A>C
c.2860A>C (p.Asn954His)
n.2566A>C
c.3169A>C (p.Asn1057His)
n.3316A>C
c.2362A>C (p.Asn788His)
c.2749A>C (p.Asn917His)
c.2113A>C (p.Asn705His)
c.-827A>C (n.-827A>C)
5g.177211568A>GCA362322435NSD1c.2296A>G (p.Asn766Asp)
n.612+7276A>G
n.2752A>G
c.2860A>G (p.Asn954Asp)
n.2566A>G
c.3169A>G (p.Asn1057Asp)
n.3316A>G
c.2362A>G (p.Asn788Asp)
c.2749A>G (p.Asn917Asp)
c.2113A>G (p.Asn705Asp)
c.-827A>G (n.-827A>G)
5g.177211568A>TCA132831078NSD1c.2296A>T (p.Asn766Tyr)
n.612+7276A>T
n.2752A>T
c.2860A>T (p.Asn954Tyr)
n.2566A>T
c.3169A>T (p.Asn1057Tyr)
n.3316A>T
c.2362A>T (p.Asn788Tyr)
c.2749A>T (p.Asn917Tyr)
c.2113A>T (p.Asn705Tyr)
c.-827A>T (n.-827A>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177211569A>CCA362322450NSD1c.2297A>C (p.Asn766Thr)
n.612+7277A>C
n.2753A>C
c.2861A>C (p.Asn954Thr)
n.2567A>C
c.3170A>C (p.Asn1057Thr)
n.3317A>C
c.2363A>C (p.Asn788Thr)
c.2750A>C (p.Asn917Thr)
c.2114A>C (p.Asn705Thr)
c.-826A>C (n.-826A>C)
5g.177211569A>GCA362322453NSD1c.2297A>G (p.Asn766Ser)
n.612+7277A>G
n.2753A>G
c.2861A>G (p.Asn954Ser)
n.2567A>G
c.3170A>G (p.Asn1057Ser)
n.3317A>G
c.2363A>G (p.Asn788Ser)
c.2750A>G (p.Asn917Ser)
c.2114A>G (p.Asn705Ser)
c.-826A>G (n.-826A>G)
gnomAD v4
5g.177211569A>TCA362322457NSD1c.2297A>T (p.Asn766Ile)
n.612+7277A>T
n.2753A>T
c.2861A>T (p.Asn954Ile)
n.2567A>T
c.3170A>T (p.Asn1057Ile)
n.3317A>T
c.2363A>T (p.Asn788Ile)
c.2750A>T (p.Asn917Ile)
c.2114A>T (p.Asn705Ile)
c.-826A>T (n.-826A>T)
5g.177211570T>ACA362322461NSD1c.2298T>A (p.Asn766Lys)
n.612+7278T>A
n.2754T>A
c.2862T>A (p.Asn954Lys)
n.2568T>A
c.3171T>A (p.Asn1057Lys)
n.3318T>A
c.2364T>A (p.Asn788Lys)
c.2751T>A (p.Asn917Lys)
c.2115T>A (p.Asn705Lys)
c.-825T>A (n.-825T>A)
5g.177211570T>CCA447960701NSD1c.2298T>C (p.Asn766=)
n.612+7278T>C
n.2754T>C
c.2862T>C (p.Asn954=)
n.2568T>C
c.3171T>C (p.Asn1057=)
n.3318T>C
c.2364T>C (p.Asn788=)
c.2751T>C (p.Asn917=)
c.2115T>C (p.Asn705=)
c.-825T>C (n.-825T>C)
ClinVar dbSNP gnomAD v4
5g.177211570T>GCA362322462NSD1c.2298T>G (p.Asn766Lys)
n.612+7278T>G
n.2754T>G
c.2862T>G (p.Asn954Lys)
n.2568T>G
c.3171T>G (p.Asn1057Lys)
n.3318T>G
c.2364T>G (p.Asn788Lys)
c.2751T>G (p.Asn917Lys)
c.2115T>G (p.Asn705Lys)
c.-825T>G (n.-825T>G)
5g.177211570T=CA1603478258NSD1c.2298T= (p.Asn766=)
n.612+7278T=
n.2754T=
c.2862T= (p.Asn954=)
n.2568T=
c.3171T= (p.Asn1057=)
n.3318T=
c.2364T= (p.Asn788=)
c.2751T= (p.Asn917=)
c.2115T= (p.Asn705=)
c.-825T= (n.-825T=)
5g.177211571C>ACA362322463NSD1c.2299C>A (p.Gln767Lys)
n.612+7279C>A
n.2755C>A
c.2863C>A (p.Gln955Lys)
n.2569C>A
c.3172C>A (p.Gln1058Lys)
n.3319C>A
c.2365C>A (p.Gln789Lys)
c.2752C>A (p.Gln918Lys)
c.2116C>A (p.Gln706Lys)
c.-824C>A (n.-824C>A)
5g.177211571C=CA1603478265NSD1c.2299C= (p.Gln767=)
n.612+7279C=
n.2755C=
c.2863C= (p.Gln955=)
n.2569C=
c.3172C= (p.Gln1058=)
n.3319C=
c.2365C= (p.Gln789=)
c.2752C= (p.Gln918=)
c.2116C= (p.Gln706=)
c.-824C= (n.-824C=)
5g.177211571C>GCA362322466NSD1c.2299C>G (p.Gln767Glu)
n.612+7279C>G
n.2755C>G
c.2863C>G (p.Gln955Glu)
n.2569C>G
c.3172C>G (p.Gln1058Glu)
n.3319C>G
c.2365C>G (p.Gln789Glu)
c.2752C>G (p.Gln918Glu)
c.2116C>G (p.Gln706Glu)
c.-824C>G (n.-824C>G)
5g.177211571C>TCA362322468NSD1c.2299C>T (p.Gln767Ter)
n.612+7279C>T
n.2755C>T
c.2863C>T (p.Gln955Ter)
n.2569C>T
c.3172C>T (p.Gln1058Ter)
n.3319C>T
c.2365C>T (p.Gln789Ter)
c.2752C>T (p.Gln918Ter)
c.2116C>T (p.Gln706Ter)
c.-824C>T (n.-824C>T)
ClinVar dbSNP
5g.177211572A=CA1603478272NSD1c.2300A= (p.Gln767=)
n.612+7280A=
n.2756A=
c.2864A= (p.Gln955=)
n.2570A=
c.3173A= (p.Gln1058=)
n.3320A=
c.2366A= (p.Gln789=)
c.2753A= (p.Gln918=)
c.2117A= (p.Gln706=)
c.-823A= (n.-823A=)
5g.177211572A>CCA362322477NSD1c.2300A>C (p.Gln767Pro)
n.612+7280A>C
n.2756A>C
c.2864A>C (p.Gln955Pro)
n.2570A>C
c.3173A>C (p.Gln1058Pro)
n.3320A>C
c.2366A>C (p.Gln789Pro)
c.2753A>C (p.Gln918Pro)
c.2117A>C (p.Gln706Pro)
c.-823A>C (n.-823A>C)
5g.177211572A>GCA362322482NSD1c.2300A>G (p.Gln767Arg)
n.612+7280A>G
n.2756A>G
c.2864A>G (p.Gln955Arg)
n.2570A>G
c.3173A>G (p.Gln1058Arg)
n.3320A>G
c.2366A>G (p.Gln789Arg)
c.2753A>G (p.Gln918Arg)
c.2117A>G (p.Gln706Arg)
c.-823A>G (n.-823A>G)
dbSNP gnomAD v4
5g.177211572A>TCA362322473NSD1c.2300A>T (p.Gln767Leu)
n.612+7280A>T
n.2756A>T
c.2864A>T (p.Gln955Leu)
n.2570A>T
c.3173A>T (p.Gln1058Leu)
n.3320A>T
c.2366A>T (p.Gln789Leu)
c.2753A>T (p.Gln918Leu)
c.2117A>T (p.Gln706Leu)
c.-823A>T (n.-823A>T)
5g.177211573G>ACA447960715NSD1c.2301G>A (p.Gln767=)
n.612+7281G>A
n.2757G>A
c.2865G>A (p.Gln955=)
n.2571G>A
c.3174G>A (p.Gln1058=)
n.3321G>A
c.2367G>A (p.Gln789=)
c.2754G>A (p.Gln918=)
c.2118G>A (p.Gln706=)
c.-822G>A (n.-822G>A)
dbSNP
5g.177211573G>CCA362322484NSD1c.2301G>C (p.Gln767His)
n.612+7281G>C
n.2757G>C
c.2865G>C (p.Gln955His)
n.2571G>C
c.3174G>C (p.Gln1058His)
n.3321G>C
c.2367G>C (p.Gln789His)
c.2754G>C (p.Gln918His)
c.2118G>C (p.Gln706His)
c.-822G>C (n.-822G>C)
5g.177211573G=CA1603478281NSD1c.2301G= (p.Gln767=)
n.612+7281G=
n.2757G=
c.2865G= (p.Gln955=)
n.2571G=
c.3174G= (p.Gln1058=)
n.3321G=
c.2367G= (p.Gln789=)
c.2754G= (p.Gln918=)
c.2118G= (p.Gln706=)
c.-822G= (n.-822G=)
5g.177211573G>TCA362322485NSD1c.2301G>T (p.Gln767His)
n.612+7281G>T
n.2757G>T
c.2865G>T (p.Gln955His)
n.2571G>T
c.3174G>T (p.Gln1058His)
n.3321G>T
c.2367G>T (p.Gln789His)
c.2754G>T (p.Gln918His)
c.2118G>T (p.Gln706His)
c.-822G>T (n.-822G>T)
5g.177211573_177211575delinsAGCA2695202828NSD1c.2301_2303delinsAG (p.Leu768ValfsTer4)
n.612+7281_612+7283delinsAG
n.2757_2759delinsAG
c.2865_2867delinsAG (p.Leu956ValfsTer4)
n.2571_2573delinsAG
c.3174_3176delinsAG (p.Leu1059ValfsTer4)
n.3321_3323delinsAG
c.2367_2369delinsAG (p.Leu790ValfsTer4)
c.2754_2756delinsAG (p.Leu919ValfsTer4)
c.2118_2120delinsAG (p.Leu707ValfsTer4)
c.-822_-820delinsAG (n.-822_-820delinsAG)
5g.177211574C>ACA362322488NSD1c.2302C>A (p.Leu768Ile)
n.612+7282C>A
n.2758C>A
c.2866C>A (p.Leu956Ile)
n.2572C>A
c.3175C>A (p.Leu1059Ile)
n.3322C>A
c.2368C>A (p.Leu790Ile)
c.2755C>A (p.Leu919Ile)
c.2119C>A (p.Leu707Ile)
c.-821C>A (n.-821C>A)
5g.177211574C=CA1603478286NSD1c.2302C= (p.Leu768=)
n.612+7282C=
n.2758C=
c.2866C= (p.Leu956=)
n.2572C=
c.3175C= (p.Leu1059=)
n.3322C=
c.2368C= (p.Leu790=)
c.2755C= (p.Leu919=)
c.2119C= (p.Leu707=)
c.-821C= (n.-821C=)
5g.177211574C>GCA362322493NSD1c.2302C>G (p.Leu768Val)
n.612+7282C>G
n.2758C>G
c.2866C>G (p.Leu956Val)
n.2572C>G
c.3175C>G (p.Leu1059Val)
n.3322C>G
c.2368C>G (p.Leu790Val)
c.2755C>G (p.Leu919Val)
c.2119C>G (p.Leu707Val)
c.-821C>G (n.-821C>G)
5g.177211574C>TCA3577389NSD1c.2302C>T (p.Leu768Phe)
n.612+7282C>T
n.2758C>T
c.2866C>T (p.Leu956Phe)
n.2572C>T
c.3175C>T (p.Leu1059Phe)
n.3322C>T
c.2368C>T (p.Leu790Phe)
c.2755C>T (p.Leu919Phe)
c.2119C>T (p.Leu707Phe)
c.-821C>T (n.-821C>T)
dbSNP ExAC
5g.177211575T>ACA362322517NSD1c.2303T>A (p.Leu768His)
n.612+7283T>A
n.2759T>A
c.2867T>A (p.Leu956His)
n.2573T>A
c.3176T>A (p.Leu1059His)
n.3323T>A
c.2369T>A (p.Leu790His)
c.2756T>A (p.Leu919His)
c.2120T>A (p.Leu707His)
c.-820T>A (n.-820T>A)
5g.177211575T>CCA362322506NSD1c.2303T>C (p.Leu768Pro)
n.612+7283T>C
n.2759T>C
c.2867T>C (p.Leu956Pro)
n.2573T>C
c.3176T>C (p.Leu1059Pro)
n.3323T>C
c.2369T>C (p.Leu790Pro)
c.2756T>C (p.Leu919Pro)
c.2120T>C (p.Leu707Pro)
c.-820T>C (n.-820T>C)
5g.177211575T>GCA362322502NSD1c.2303T>G (p.Leu768Arg)
n.612+7283T>G
n.2759T>G
c.2867T>G (p.Leu956Arg)
n.2573T>G
c.3176T>G (p.Leu1059Arg)
n.3323T>G
c.2369T>G (p.Leu790Arg)
c.2756T>G (p.Leu919Arg)
c.2120T>G (p.Leu707Arg)
c.-820T>G (n.-820T>G)
5g.177211576T>ACA447960727NSD1c.2304T>A (p.Leu768=)
n.612+7284T>A
n.2760T>A
c.2868T>A (p.Leu956=)
n.2574T>A
c.3177T>A (p.Leu1059=)
n.3324T>A
c.2370T>A (p.Leu790=)
c.2757T>A (p.Leu919=)
c.2121T>A (p.Leu707=)
c.-819T>A (n.-819T>A)
5g.177211576T>CCA447960730NSD1c.2304T>C (p.Leu768=)
n.612+7284T>C
n.2760T>C
c.2868T>C (p.Leu956=)
n.2574T>C
c.3177T>C (p.Leu1059=)
n.3324T>C
c.2370T>C (p.Leu790=)
c.2757T>C (p.Leu919=)
c.2121T>C (p.Leu707=)
c.-819T>C (n.-819T>C)
5g.177211576T>GCA447960732NSD1c.2304T>G (p.Leu768=)
n.612+7284T>G
n.2760T>G
c.2868T>G (p.Leu956=)
n.2574T>G
c.3177T>G (p.Leu1059=)
n.3324T>G
c.2370T>G (p.Leu790=)
c.2757T>G (p.Leu919=)
c.2121T>G (p.Leu707=)
c.-819T>G (n.-819T>G)
5g.177211577C>ACA362322521NSD1c.2305C>A (p.Pro769Thr)
n.612+7285C>A
n.2761C>A
c.2869C>A (p.Pro957Thr)
n.2575C>A
c.3178C>A (p.Pro1060Thr)
n.3325C>A
c.2371C>A (p.Pro791Thr)
c.2758C>A (p.Pro920Thr)
c.2122C>A (p.Pro708Thr)
c.-818C>A (n.-818C>A)
dbSNP
5g.177211577C=CA1603478332NSD1c.2305C= (p.Pro769=)
n.612+7285C=
n.2761C=
c.2869C= (p.Pro957=)
n.2575C=
c.3178C= (p.Pro1060=)
n.3325C=
c.2371C= (p.Pro791=)
c.2758C= (p.Pro920=)
c.2122C= (p.Pro708=)
c.-818C= (n.-818C=)
5g.177211577C>GCA362322527NSD1c.2305C>G (p.Pro769Ala)
n.612+7285C>G
n.2761C>G
c.2869C>G (p.Pro957Ala)
n.2575C>G
c.3178C>G (p.Pro1060Ala)
n.3325C>G
c.2371C>G (p.Pro791Ala)
c.2758C>G (p.Pro920Ala)
c.2122C>G (p.Pro708Ala)
c.-818C>G (n.-818C>G)
ClinVar
5g.177211577C>TCA3577390NSD1c.2305C>T (p.Pro769Ser)
n.612+7285C>T
n.2761C>T
c.2869C>T (p.Pro957Ser)
n.2575C>T
c.3178C>T (p.Pro1060Ser)
n.3325C>T
c.2371C>T (p.Pro791Ser)
c.2758C>T (p.Pro920Ser)
c.2122C>T (p.Pro708Ser)
c.-818C>T (n.-818C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211578C>ACA362322533NSD1c.2306C>A (p.Pro769Gln)
n.612+7286C>A
n.2762C>A
c.2870C>A (p.Pro957Gln)
n.2576C>A
c.3179C>A (p.Pro1060Gln)
n.3326C>A
c.2372C>A (p.Pro791Gln)
c.2759C>A (p.Pro920Gln)
c.2123C>A (p.Pro708Gln)
c.-817C>A (n.-817C>A)
dbSNP gnomAD v4
5g.177211578C>GCA362322536NSD1c.2306C>G (p.Pro769Arg)
n.612+7286C>G
n.2762C>G
c.2870C>G (p.Pro957Arg)
n.2576C>G
c.3179C>G (p.Pro1060Arg)
n.3326C>G
c.2372C>G (p.Pro791Arg)
c.2759C>G (p.Pro920Arg)
c.2123C>G (p.Pro708Arg)
c.-817C>G (n.-817C>G)
5g.177211578C>TCA362322540NSD1c.2306C>T (p.Pro769Leu)
n.612+7286C>T
n.2762C>T
c.2870C>T (p.Pro957Leu)
n.2576C>T
c.3179C>T (p.Pro1060Leu)
n.3326C>T
c.2372C>T (p.Pro791Leu)
c.2759C>T (p.Pro920Leu)
c.2123C>T (p.Pro708Leu)
c.-817C>T (n.-817C>T)
gnomAD v4
5g.177211579A>CCA447960745NSD1c.2307A>C (p.Pro769=)
n.612+7287A>C
n.2763A>C
c.2871A>C (p.Pro957=)
n.2577A>C
c.3180A>C (p.Pro1060=)
n.3327A>C
c.2373A>C (p.Pro791=)
c.2760A>C (p.Pro920=)
c.2124A>C (p.Pro708=)
c.-816A>C (n.-816A>C)
5g.177211579A>GCA447960748NSD1c.2307A>G (p.Pro769=)
n.612+7287A>G
n.2763A>G
c.2871A>G (p.Pro957=)
n.2577A>G
c.3180A>G (p.Pro1060=)
n.3327A>G
c.2373A>G (p.Pro791=)
c.2760A>G (p.Pro920=)
c.2124A>G (p.Pro708=)
c.-816A>G (n.-816A>G)
gnomAD v4
5g.177211579A>TCA447960749NSD1c.2307A>T (p.Pro769=)
n.612+7287A>T
n.2763A>T
c.2871A>T (p.Pro957=)
n.2577A>T
c.3180A>T (p.Pro1060=)
n.3327A>T
c.2373A>T (p.Pro791=)
c.2760A>T (p.Pro920=)
c.2124A>T (p.Pro708=)
c.-816A>T (n.-816A>T)
5g.177211580A=CA1603478342NSD1c.2308A= (p.Ser770=)
n.612+7288A=
n.2764A=
c.2872A= (p.Ser958=)
n.2578A=
c.3181A= (p.Ser1061=)
n.3328A=
c.2374A= (p.Ser792=)
c.2761A= (p.Ser921=)
c.2125A= (p.Ser709=)
c.-815A= (n.-815A=)
5g.177211580A>CCA362322547NSD1c.2308A>C (p.Ser770Arg)
n.612+7288A>C
n.2764A>C
c.2872A>C (p.Ser958Arg)
n.2578A>C
c.3181A>C (p.Ser1061Arg)
n.3328A>C
c.2374A>C (p.Ser792Arg)
c.2761A>C (p.Ser921Arg)
c.2125A>C (p.Ser709Arg)
c.-815A>C (n.-815A>C)
gnomAD v4
5g.177211580A>GCA3577391NSD1c.2308A>G (p.Ser770Gly)
n.612+7288A>G
n.2764A>G
c.2872A>G (p.Ser958Gly)
n.2578A>G
c.3181A>G (p.Ser1061Gly)
n.3328A>G
c.2374A>G (p.Ser792Gly)
c.2761A>G (p.Ser921Gly)
c.2125A>G (p.Ser709Gly)
c.-815A>G (n.-815A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211580A>TCA3577392NSD1c.2308A>T (p.Ser770Cys)
n.612+7288A>T
n.2764A>T
c.2872A>T (p.Ser958Cys)
n.2578A>T
c.3181A>T (p.Ser1061Cys)
n.3328A>T
c.2374A>T (p.Ser792Cys)
c.2761A>T (p.Ser921Cys)
c.2125A>T (p.Ser709Cys)
c.-815A>T (n.-815A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211580_177211582delinsAGTCA1603478340NSD1c.2308_2310delinsAGT (p.Ser770=)
n.612+7288_612+7290delinsAGT
n.2764_2766delinsAGT
c.2872_2874delinsAGT (p.Ser958=)
n.2578_2580delinsAGT
c.3181_3183delinsAGT (p.Ser1061=)
n.3328_3330delinsAGT
c.2374_2376delinsAGT (p.Ser792=)
c.2761_2763delinsAGT (p.Ser921=)
c.2125_2127delinsAGT (p.Ser709=)
c.-815_-813delinsAGT (n.-815_-813delinsAGT)
5g.177211581G>ACA362322583NSD1c.2309G>A (p.Ser770Asn)
n.612+7289G>A
n.2765G>A
c.2873G>A (p.Ser958Asn)
n.2579G>A
c.3182G>A (p.Ser1061Asn)
n.3329G>A
c.2375G>A (p.Ser792Asn)
c.2762G>A (p.Ser921Asn)
c.2126G>A (p.Ser709Asn)
c.-814G>A (n.-814G>A)
dbSNP
5g.177211581G>CCA362322587NSD1c.2309G>C (p.Ser770Thr)
n.612+7289G>C
n.2765G>C
c.2873G>C (p.Ser958Thr)
n.2579G>C
c.3182G>C (p.Ser1061Thr)
n.3329G>C
c.2375G>C (p.Ser792Thr)
c.2762G>C (p.Ser921Thr)
c.2126G>C (p.Ser709Thr)
c.-814G>C (n.-814G>C)
dbSNP
5g.177211581G=CA1603478349NSD1c.2309G= (p.Ser770=)
n.612+7289G=
n.2765G=
c.2873G= (p.Ser958=)
n.2579G=
c.3182G= (p.Ser1061=)
n.3329G=
c.2375G= (p.Ser792=)
c.2762G= (p.Ser921=)
c.2126G= (p.Ser709=)
c.-814G= (n.-814G=)
5g.177211581G>TCA362322590NSD1c.2309G>T (p.Ser770Ile)
n.612+7289G>T
n.2765G>T
c.2873G>T (p.Ser958Ile)
n.2579G>T
c.3182G>T (p.Ser1061Ile)
n.3329G>T
c.2375G>T (p.Ser792Ile)
c.2762G>T (p.Ser921Ile)
c.2126G>T (p.Ser709Ile)
c.-814G>T (n.-814G>T)
5g.177211584_177211585delCA294845NSD1c.2312_2313del (p.Val771AspfsTer3)
n.612+7292_612+7293del
n.2768_2769del
c.2876_2877del (p.Val959AspfsTer3)
n.2582_2583del
c.3185_3186del (p.Val1062AspfsTer3)
n.3332_3333del
c.2378_2379del (p.Val793AspfsTer3)
c.2765_2766del (p.Val922AspfsTer3)
c.2129_2130del (p.Val710AspfsTer3)
c.-811_-810del (n.-811_-810del)
ClinVar dbSNP
5g.177211582T>ACA362322609NSD1c.2310T>A (p.Ser770Arg)
n.612+7290T>A
n.2766T>A
c.2874T>A (p.Ser958Arg)
n.2580T>A
c.3183T>A (p.Ser1061Arg)
n.3330T>A
c.2376T>A (p.Ser792Arg)
c.2763T>A (p.Ser921Arg)
c.2127T>A (p.Ser709Arg)
c.-813T>A (n.-813T>A)
5g.177211582T>CCA447960766NSD1c.2310T>C (p.Ser770=)
n.612+7290T>C
n.2766T>C
c.2874T>C (p.Ser958=)
n.2580T>C
c.3183T>C (p.Ser1061=)
n.3330T>C
c.2376T>C (p.Ser792=)
c.2763T>C (p.Ser921=)
c.2127T>C (p.Ser709=)
c.-813T>C (n.-813T>C)
5g.177211582T>GCA3577393NSD1c.2310T>G (p.Ser770Arg)
n.612+7290T>G
n.2766T>G
c.2874T>G (p.Ser958Arg)
n.2580T>G
c.3183T>G (p.Ser1061Arg)
n.3330T>G
c.2376T>G (p.Ser792Arg)
c.2763T>G (p.Ser921Arg)
c.2127T>G (p.Ser709Arg)
c.-813T>G (n.-813T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211582T=CA1603478355NSD1c.2310T= (p.Ser770=)
n.612+7290T=
n.2766T=
c.2874T= (p.Ser958=)
n.2580T=
c.3183T= (p.Ser1061=)
n.3330T=
c.2376T= (p.Ser792=)
c.2763T= (p.Ser921=)
c.2127T= (p.Ser709=)
c.-813T= (n.-813T=)
5g.177211583G>ACA362322615NSD1c.2311G>A (p.Val771Met)
n.612+7291G>A
n.2767G>A
c.2875G>A (p.Val959Met)
n.2581G>A
c.3184G>A (p.Val1062Met)
n.3331G>A
c.2377G>A (p.Val793Met)
c.2764G>A (p.Val922Met)
c.2128G>A (p.Val710Met)
c.-812G>A (n.-812G>A)
gnomAD v4
5g.177211583G>CCA362322616NSD1c.2311G>C (p.Val771Leu)
n.612+7291G>C
n.2767G>C
c.2875G>C (p.Val959Leu)
n.2581G>C
c.3184G>C (p.Val1062Leu)
n.3331G>C
c.2377G>C (p.Val793Leu)
c.2764G>C (p.Val922Leu)
c.2128G>C (p.Val710Leu)
c.-812G>C (n.-812G>C)
5g.177211583G>TCA362322617NSD1c.2311G>T (p.Val771Leu)
n.612+7291G>T
n.2767G>T
c.2875G>T (p.Val959Leu)
n.2581G>T
c.3184G>T (p.Val1062Leu)
n.3331G>T
c.2377G>T (p.Val793Leu)
c.2764G>T (p.Val922Leu)
c.2128G>T (p.Val710Leu)
c.-812G>T (n.-812G>T)
5g.177211584T>ACA362322621NSD1c.2312T>A (p.Val771Glu)
n.612+7292T>A
n.2768T>A
c.2876T>A (p.Val959Glu)
n.2582T>A
c.3185T>A (p.Val1062Glu)
n.3332T>A
c.2378T>A (p.Val793Glu)
c.2765T>A (p.Val922Glu)
c.2129T>A (p.Val710Glu)
c.-811T>A (n.-811T>A)
5g.177211584T>CCA362322623NSD1c.2312T>C (p.Val771Ala)
n.612+7292T>C
n.2768T>C
c.2876T>C (p.Val959Ala)
n.2582T>C
c.3185T>C (p.Val1062Ala)
n.3332T>C
c.2378T>C (p.Val793Ala)
c.2765T>C (p.Val922Ala)
c.2129T>C (p.Val710Ala)
c.-811T>C (n.-811T>C)
5g.177211584T>GCA362322626NSD1c.2312T>G (p.Val771Gly)
n.612+7292T>G
n.2768T>G
c.2876T>G (p.Val959Gly)
n.2582T>G
c.3185T>G (p.Val1062Gly)
n.3332T>G
c.2378T>G (p.Val793Gly)
c.2765T>G (p.Val922Gly)
c.2129T>G (p.Val710Gly)
c.-811T>G (n.-811T>G)
5g.177211585G>ACA447960775NSD1c.2313G>A (p.Val771=)
n.612+7293G>A
n.2769G>A
c.2877G>A (p.Val959=)
n.2583G>A
c.3186G>A (p.Val1062=)
n.3333G>A
c.2379G>A (p.Val793=)
c.2766G>A (p.Val922=)
c.2130G>A (p.Val710=)
c.-810G>A (n.-810G>A)
5g.177211585G>CCA447960772NSD1c.2313G>C (p.Val771=)
n.612+7293G>C
n.2769G>C
c.2877G>C (p.Val959=)
n.2583G>C
c.3186G>C (p.Val1062=)
n.3333G>C
c.2379G>C (p.Val793=)
c.2766G>C (p.Val922=)
c.2130G>C (p.Val710=)
c.-810G>C (n.-810G>C)
5g.177211585G>TCA447960773NSD1c.2313G>T (p.Val771=)
n.612+7293G>T
n.2769G>T
c.2877G>T (p.Val959=)
n.2583G>T
c.3186G>T (p.Val1062=)
n.3333G>T
c.2379G>T (p.Val793=)
c.2766G>T (p.Val922=)
c.2130G>T (p.Val710=)
c.-810G>T (n.-810G>T)
dbSNP
5g.177211586A=CA1603478358NSD1c.2314A= (p.Thr772=)
n.612+7294A=
n.2770A=
c.2878A= (p.Thr960=)
n.2584A=
c.3187A= (p.Thr1063=)
n.3334A=
c.2380A= (p.Thr794=)
c.2767A= (p.Thr923=)
c.2131A= (p.Thr711=)
c.-809A= (n.-809A=)
5g.177211586A>CCA362322632NSD1c.2314A>C (p.Thr772Pro)
n.612+7294A>C
n.2770A>C
c.2878A>C (p.Thr960Pro)
n.2584A>C
c.3187A>C (p.Thr1063Pro)
n.3334A>C
c.2380A>C (p.Thr794Pro)
c.2767A>C (p.Thr923Pro)
c.2131A>C (p.Thr711Pro)
c.-809A>C (n.-809A>C)
5g.177211586A>GCA149196NSD1c.2314A>G (p.Thr772Ala)
n.612+7294A>G
n.2770A>G
c.2878A>G (p.Thr960Ala)
n.2584A>G
c.3187A>G (p.Thr1063Ala)
n.3334A>G
c.2380A>G (p.Thr794Ala)
c.2767A>G (p.Thr923Ala)
c.2131A>G (p.Thr711Ala)
c.-809A>G (n.-809A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211586A>TCA362322646NSD1c.2314A>T (p.Thr772Ser)
n.612+7294A>T
n.2770A>T
c.2878A>T (p.Thr960Ser)
n.2584A>T
c.3187A>T (p.Thr1063Ser)
n.3334A>T
c.2380A>T (p.Thr794Ser)
c.2767A>T (p.Thr923Ser)
c.2131A>T (p.Thr711Ser)
c.-809A>T (n.-809A>T)
5g.177211587C>ACA362322652NSD1c.2315C>A (p.Thr772Asn)
n.612+7295C>A
n.2771C>A
c.2879C>A (p.Thr960Asn)
n.2585C>A
c.3188C>A (p.Thr1063Asn)
n.3335C>A
c.2381C>A (p.Thr794Asn)
c.2768C>A (p.Thr923Asn)
c.2132C>A (p.Thr711Asn)
c.-808C>A (n.-808C>A)
5g.177211587C>GCA362322661NSD1c.2315C>G (p.Thr772Ser)
n.612+7295C>G
n.2771C>G
c.2879C>G (p.Thr960Ser)
n.2585C>G
c.3188C>G (p.Thr1063Ser)
n.3335C>G
c.2381C>G (p.Thr794Ser)
c.2768C>G (p.Thr923Ser)
c.2132C>G (p.Thr711Ser)
c.-808C>G (n.-808C>G)
dbSNP
5g.177211587C>TCA362322655NSD1c.2315C>T (p.Thr772Ile)
n.612+7295C>T
n.2771C>T
c.2879C>T (p.Thr960Ile)
n.2585C>T
c.3188C>T (p.Thr1063Ile)
n.3335C>T
c.2381C>T (p.Thr794Ile)
c.2768C>T (p.Thr923Ile)
c.2132C>T (p.Thr711Ile)
c.-808C>T (n.-808C>T)
gnomAD v4
5g.177211588delCA2695202829NSD1c.2316del (p.Asp774MetfsTer14)
n.612+7296del
n.2772del
c.2880del (p.Asp962MetfsTer14)
n.2586del
c.3189del (p.Asp1065MetfsTer14)
n.3336del
c.2382del (p.Asp796MetfsTer14)
c.2769del (p.Asp925MetfsTer14)
c.2133del (p.Asp713MetfsTer14)
c.-807del (n.-807del)
5g.177211588T>ACA447960790NSD1c.2316T>A (p.Thr772=)
n.612+7296T>A
n.2772T>A
c.2880T>A (p.Thr960=)
n.2586T>A
c.3189T>A (p.Thr1063=)
n.3336T>A
c.2382T>A (p.Thr794=)
c.2769T>A (p.Thr923=)
c.2133T>A (p.Thr711=)
c.-807T>A (n.-807T>A)
5g.177211588T>CCA447960789NSD1c.2316T>C (p.Thr772=)
n.612+7296T>C
n.2772T>C
c.2880T>C (p.Thr960=)
n.2586T>C
c.3189T>C (p.Thr1063=)
n.3336T>C
c.2382T>C (p.Thr794=)
c.2769T>C (p.Thr923=)
c.2133T>C (p.Thr711=)
c.-807T>C (n.-807T>C)
dbSNP gnomAD v4
5g.177211588T>GCA447960788NSD1c.2316T>G (p.Thr772=)
n.612+7296T>G
n.2772T>G
c.2880T>G (p.Thr960=)
n.2586T>G
c.3189T>G (p.Thr1063=)
n.3336T>G
c.2382T>G (p.Thr794=)
c.2769T>G (p.Thr923=)
c.2133T>G (p.Thr711=)
c.-807T>G (n.-807T>G)
5g.177211588T=CA1603478367NSD1c.2316T= (p.Thr772=)
n.612+7296T=
n.2772T=
c.2880T= (p.Thr960=)
n.2586T=
c.3189T= (p.Thr1063=)
n.3336T=
c.2382T= (p.Thr794=)
c.2769T= (p.Thr923=)
c.2133T= (p.Thr711=)
c.-807T= (n.-807T=)
5g.177211589C>ACA362322666NSD1c.2317C>A (p.Leu773Ile)
n.612+7297C>A
n.2773C>A
c.2881C>A (p.Leu961Ile)
n.2587C>A
c.3190C>A (p.Leu1064Ile)
n.3337C>A
c.2383C>A (p.Leu795Ile)
c.2770C>A (p.Leu924Ile)
c.2134C>A (p.Leu712Ile)
c.-806C>A (n.-806C>A)
dbSNP
5g.177211589C>GCA362322669NSD1c.2317C>G (p.Leu773Val)
n.612+7297C>G
n.2773C>G
c.2881C>G (p.Leu961Val)
n.2587C>G
c.3190C>G (p.Leu1064Val)
n.3337C>G
c.2383C>G (p.Leu795Val)
c.2770C>G (p.Leu924Val)
c.2134C>G (p.Leu712Val)
c.-806C>G (n.-806C>G)
5g.177211589C>TCA362322670NSD1c.2317C>T (p.Leu773Phe)
n.612+7297C>T
n.2773C>T
c.2881C>T (p.Leu961Phe)
n.2587C>T
c.3190C>T (p.Leu1064Phe)
n.3337C>T
c.2383C>T (p.Leu795Phe)
c.2770C>T (p.Leu924Phe)
c.2134C>T (p.Leu712Phe)
c.-806C>T (n.-806C>T)
5g.177211590T>ACA3577394NSD1c.2318T>A (p.Leu773His)
n.612+7298T>A
n.2774T>A
c.2882T>A (p.Leu961His)
n.2588T>A
c.3191T>A (p.Leu1064His)
n.3338T>A
c.2384T>A (p.Leu795His)
c.2771T>A (p.Leu924His)
c.2135T>A (p.Leu712His)
c.-805T>A (n.-805T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211590T>CCA362322671NSD1c.2318T>C (p.Leu773Pro)
n.612+7298T>C
n.2774T>C
c.2882T>C (p.Leu961Pro)
n.2588T>C
c.3191T>C (p.Leu1064Pro)
n.3338T>C
c.2384T>C (p.Leu795Pro)
c.2771T>C (p.Leu924Pro)
c.2135T>C (p.Leu712Pro)
c.-805T>C (n.-805T>C)
5g.177211590T>GCA362322672NSD1c.2318T>G (p.Leu773Arg)
n.612+7298T>G
n.2774T>G
c.2882T>G (p.Leu961Arg)
n.2588T>G
c.3191T>G (p.Leu1064Arg)
n.3338T>G
c.2384T>G (p.Leu795Arg)
c.2771T>G (p.Leu924Arg)
c.2135T>G (p.Leu712Arg)
c.-805T>G (n.-805T>G)
5g.177211590T=CA1603478374NSD1c.2318T= (p.Leu773=)
n.612+7298T=
n.2774T=
c.2882T= (p.Leu961=)
n.2588T=
c.3191T= (p.Leu1064=)
n.3338T=
c.2384T= (p.Leu795=)
c.2771T= (p.Leu924=)
c.2135T= (p.Leu712=)
c.-805T= (n.-805T=)
5g.177211591T>ACA447960805NSD1c.2319T>A (p.Leu773=)
n.612+7299T>A
n.2775T>A
c.2883T>A (p.Leu961=)
n.2589T>A
c.3192T>A (p.Leu1064=)
n.3339T>A
c.2385T>A (p.Leu795=)
c.2772T>A (p.Leu924=)
c.2136T>A (p.Leu712=)
c.-804T>A (n.-804T>A)
5g.177211591T>CCA447960806NSD1c.2319T>C (p.Leu773=)
n.612+7299T>C
n.2775T>C
c.2883T>C (p.Leu961=)
n.2589T>C
c.3192T>C (p.Leu1064=)
n.3339T>C
c.2385T>C (p.Leu795=)
c.2772T>C (p.Leu924=)
c.2136T>C (p.Leu712=)
c.-804T>C (n.-804T>C)
ClinVar gnomAD v4
5g.177211591T>GCA447960807NSD1c.2319T>G (p.Leu773=)
n.612+7299T>G
n.2775T>G
c.2883T>G (p.Leu961=)
n.2589T>G
c.3192T>G (p.Leu1064=)
n.3339T>G
c.2385T>G (p.Leu795=)
c.2772T>G (p.Leu924=)
c.2136T>G (p.Leu712=)
c.-804T>G (n.-804T>G)
5g.177211592G>ACA362322677NSD1c.2320G>A (p.Asp774Asn)
n.612+7300G>A
n.2776G>A
c.2884G>A (p.Asp962Asn)
n.2590G>A
c.3193G>A (p.Asp1065Asn)
n.3340G>A
c.2386G>A (p.Asp796Asn)
c.2773G>A (p.Asp925Asn)
c.2137G>A (p.Asp713Asn)
c.-803G>A (n.-803G>A)
dbSNP gnomAD v2 gnomAD v4
5g.177211592G>CCA362322681NSD1c.2320G>C (p.Asp774His)
n.612+7300G>C
n.2776G>C
c.2884G>C (p.Asp962His)
n.2590G>C
c.3193G>C (p.Asp1065His)
n.3340G>C
c.2386G>C (p.Asp796His)
c.2773G>C (p.Asp925His)
c.2137G>C (p.Asp713His)
c.-803G>C (n.-803G>C)
dbSNP gnomAD v4
5g.177211592G=CA1603478380NSD1c.2320G= (p.Asp774=)
n.612+7300G=
n.2776G=
c.2884G= (p.Asp962=)
n.2590G=
c.3193G= (p.Asp1065=)
n.3340G=
c.2386G= (p.Asp796=)
c.2773G= (p.Asp925=)
c.2137G= (p.Asp713=)
c.-803G= (n.-803G=)
5g.177211592G>TCA362322684NSD1c.2320G>T (p.Asp774Tyr)
n.612+7300G>T
n.2776G>T
c.2884G>T (p.Asp962Tyr)
n.2590G>T
c.3193G>T (p.Asp1065Tyr)
n.3340G>T
c.2386G>T (p.Asp796Tyr)
c.2773G>T (p.Asp925Tyr)
c.2137G>T (p.Asp713Tyr)
c.-803G>T (n.-803G>T)
ClinVar dbSNP
5g.177211593A>CCA362322690NSD1c.2321A>C (p.Asp774Ala)
n.612+7301A>C
n.2777A>C
c.2885A>C (p.Asp962Ala)
n.2591A>C
c.3194A>C (p.Asp1065Ala)
n.3341A>C
c.2387A>C (p.Asp796Ala)
c.2774A>C (p.Asp925Ala)
c.2138A>C (p.Asp713Ala)
c.-802A>C (n.-802A>C)
5g.177211593A>GCA362322692NSD1c.2321A>G (p.Asp774Gly)
n.612+7301A>G
n.2777A>G
c.2885A>G (p.Asp962Gly)
n.2591A>G
c.3194A>G (p.Asp1065Gly)
n.3341A>G
c.2387A>G (p.Asp796Gly)
c.2774A>G (p.Asp925Gly)
c.2138A>G (p.Asp713Gly)
c.-802A>G (n.-802A>G)
5g.177211593A>TCA362322698NSD1c.2321A>T (p.Asp774Val)
n.612+7301A>T
n.2777A>T
c.2885A>T (p.Asp962Val)
n.2591A>T
c.3194A>T (p.Asp1065Val)
n.3341A>T
c.2387A>T (p.Asp796Val)
c.2774A>T (p.Asp925Val)
c.2138A>T (p.Asp713Val)
c.-802A>T (n.-802A>T)
5g.177211594T>ACA362322708NSD1c.2322T>A (p.Asp774Glu)
n.612+7302T>A
n.2778T>A
c.2886T>A (p.Asp962Glu)
n.2592T>A
c.3195T>A (p.Asp1065Glu)
n.3342T>A
c.2388T>A (p.Asp796Glu)
c.2775T>A (p.Asp925Glu)
c.2139T>A (p.Asp713Glu)
c.-801T>A (n.-801T>A)
5g.177211594T>CCA447960817NSD1c.2322T>C (p.Asp774=)
n.612+7302T>C
n.2778T>C
c.2886T>C (p.Asp962=)
n.2592T>C
c.3195T>C (p.Asp1065=)
n.3342T>C
c.2388T>C (p.Asp796=)
c.2775T>C (p.Asp925=)
c.2139T>C (p.Asp713=)
c.-801T>C (n.-801T>C)
5g.177211594T>GCA362322702NSD1c.2322T>G (p.Asp774Glu)
n.612+7302T>G
n.2778T>G
c.2886T>G (p.Asp962Glu)
n.2592T>G
c.3195T>G (p.Asp1065Glu)
n.3342T>G
c.2388T>G (p.Asp796Glu)
c.2775T>G (p.Asp925Glu)
c.2139T>G (p.Asp713Glu)
c.-801T>G (n.-801T>G)
5g.177211595G>ACA362322712NSD1c.2323G>A (p.Ala775Thr)
n.612+7303G>A
n.2779G>A
c.2887G>A (p.Ala963Thr)
n.2593G>A
c.3196G>A (p.Ala1066Thr)
n.3343G>A
c.2389G>A (p.Ala797Thr)
c.2776G>A (p.Ala926Thr)
c.2140G>A (p.Ala714Thr)
c.-800G>A (n.-800G>A)
5g.177211595G>CCA362322714NSD1c.2323G>C (p.Ala775Pro)
n.612+7303G>C
n.2779G>C
c.2887G>C (p.Ala963Pro)
n.2593G>C
c.3196G>C (p.Ala1066Pro)
n.3343G>C
c.2389G>C (p.Ala797Pro)
c.2776G>C (p.Ala926Pro)
c.2140G>C (p.Ala714Pro)
c.-800G>C (n.-800G>C)
5g.177211595G>TCA362322716NSD1c.2323G>T (p.Ala775Ser)
n.612+7303G>T
n.2779G>T
c.2887G>T (p.Ala963Ser)
n.2593G>T
c.3196G>T (p.Ala1066Ser)
n.3343G>T
c.2389G>T (p.Ala797Ser)
c.2776G>T (p.Ala926Ser)
c.2140G>T (p.Ala714Ser)
c.-800G>T (n.-800G>T)
5g.177211596delCA2695202830NSD1c.2324del (p.Ala775ValfsTer13)
n.612+7304del
n.2780del
c.2888del (p.Ala963ValfsTer13)
n.2594del
c.3197del (p.Ala1066ValfsTer13)
n.3344del
c.2390del (p.Ala797ValfsTer13)
c.2777del (p.Ala926ValfsTer13)
c.2141del (p.Ala714ValfsTer13)
c.-799del (n.-799del)
5g.177211596C>ACA362322720NSD1c.2324C>A (p.Ala775Asp)
n.612+7304C>A
n.2780C>A
c.2888C>A (p.Ala963Asp)
n.2594C>A
c.3197C>A (p.Ala1066Asp)
n.3344C>A
c.2390C>A (p.Ala797Asp)
c.2777C>A (p.Ala926Asp)
c.2141C>A (p.Ala714Asp)
c.-799C>A (n.-799C>A)
dbSNP
5g.177211596C=CA1603478386NSD1c.2324C= (p.Ala775=)
n.612+7304C=
n.2780C=
c.2888C= (p.Ala963=)
n.2594C=
c.3197C= (p.Ala1066=)
n.3344C=
c.2390C= (p.Ala797=)
c.2777C= (p.Ala926=)
c.2141C= (p.Ala714=)
c.-799C= (n.-799C=)
5g.177211596C>GCA362322728NSD1c.2324C>G (p.Ala775Gly)
n.612+7304C>G
n.2780C>G
c.2888C>G (p.Ala963Gly)
n.2594C>G
c.3197C>G (p.Ala1066Gly)
n.3344C>G
c.2390C>G (p.Ala797Gly)
c.2777C>G (p.Ala926Gly)
c.2141C>G (p.Ala714Gly)
c.-799C>G (n.-799C>G)
ClinVar gnomAD v4
5g.177211596C>TCA362322732NSD1c.2324C>T (p.Ala775Val)
n.612+7304C>T
n.2780C>T
c.2888C>T (p.Ala963Val)
n.2594C>T
c.3197C>T (p.Ala1066Val)
n.3344C>T
c.2390C>T (p.Ala797Val)
c.2777C>T (p.Ala926Val)
c.2141C>T (p.Ala714Val)
c.-799C>T (n.-799C>T)
dbSNP
5g.177211597T>ACA447960824NSD1c.2325T>A (p.Ala775=)
n.612+7305T>A
n.2781T>A
c.2889T>A (p.Ala963=)
n.2595T>A
c.3198T>A (p.Ala1066=)
n.3345T>A
c.2391T>A (p.Ala797=)
c.2778T>A (p.Ala926=)
c.2142T>A (p.Ala714=)
c.-798T>A (n.-798T>A)
5g.177211597T>CCA447960825NSD1c.2325T>C (p.Ala775=)
n.612+7305T>C
n.2781T>C
c.2889T>C (p.Ala963=)
n.2595T>C
c.3198T>C (p.Ala1066=)
n.3345T>C
c.2391T>C (p.Ala797=)
c.2778T>C (p.Ala926=)
c.2142T>C (p.Ala714=)
c.-798T>C (n.-798T>C)
5g.177211597T>GCA447960827NSD1c.2325T>G (p.Ala775=)
n.612+7305T>G
n.2781T>G
c.2889T>G (p.Ala963=)
n.2595T>G
c.3198T>G (p.Ala1066=)
n.3345T>G
c.2391T>G (p.Ala797=)
c.2778T>G (p.Ala926=)
c.2142T>G (p.Ala714=)
c.-798T>G (n.-798T>G)
dbSNP
5g.177211597T=CA1603478391NSD1c.2325T= (p.Ala775=)
n.612+7305T=
n.2781T=
c.2889T= (p.Ala963=)
n.2595T=
c.3198T= (p.Ala1066=)
n.3345T=
c.2391T= (p.Ala797=)
c.2778T= (p.Ala926=)
c.2142T= (p.Ala714=)
c.-798T= (n.-798T=)
5g.177211598G>ACA362322734NSD1c.2326G>A (p.Val776Ile)
n.612+7306G>A
n.2782G>A
c.2890G>A (p.Val964Ile)
n.2596G>A
c.3199G>A (p.Val1067Ile)
n.3346G>A
c.2392G>A (p.Val798Ile)
c.2779G>A (p.Val927Ile)
c.2143G>A (p.Val715Ile)
c.-797G>A (n.-797G>A)
dbSNP
5g.177211598G>CCA362322740NSD1c.2326G>C (p.Val776Leu)
n.612+7306G>C
n.2782G>C
c.2890G>C (p.Val964Leu)
n.2596G>C
c.3199G>C (p.Val1067Leu)
n.3346G>C
c.2392G>C (p.Val798Leu)
c.2779G>C (p.Val927Leu)
c.2143G>C (p.Val715Leu)
c.-797G>C (n.-797G>C)
gnomAD v4
5g.177211598G>TCA362322742NSD1c.2326G>T (p.Val776Leu)
n.612+7306G>T
n.2782G>T
c.2890G>T (p.Val964Leu)
n.2596G>T
c.3199G>T (p.Val1067Leu)
n.3346G>T
c.2392G>T (p.Val798Leu)
c.2779G>T (p.Val927Leu)
c.2143G>T (p.Val715Leu)
c.-797G>T (n.-797G>T)
5g.177211599T>ACA362322748NSD1c.2327T>A (p.Val776Glu)
n.612+7307T>A
n.2783T>A
c.2891T>A (p.Val964Glu)
n.2597T>A
c.3200T>A (p.Val1067Glu)
n.3347T>A
c.2393T>A (p.Val798Glu)
c.2780T>A (p.Val927Glu)
c.2144T>A (p.Val715Glu)
c.-796T>A (n.-796T>A)
dbSNP
5g.177211599T>CCA362322752NSD1c.2327T>C (p.Val776Ala)
n.612+7307T>C
n.2783T>C
c.2891T>C (p.Val964Ala)
n.2597T>C
c.3200T>C (p.Val1067Ala)
n.3347T>C
c.2393T>C (p.Val798Ala)
c.2780T>C (p.Val927Ala)
c.2144T>C (p.Val715Ala)
c.-796T>C (n.-796T>C)
5g.177211599T>GCA362322756NSD1c.2327T>G (p.Val776Gly)
n.612+7307T>G
n.2783T>G
c.2891T>G (p.Val964Gly)
n.2597T>G
c.3200T>G (p.Val1067Gly)
n.3347T>G
c.2393T>G (p.Val798Gly)
c.2780T>G (p.Val927Gly)
c.2144T>G (p.Val715Gly)
c.-796T>G (n.-796T>G)
5g.177211600A=CA1603478399NSD1c.2328A= (p.Val776=)
n.612+7308A=
n.2784A=
c.2892A= (p.Val964=)
n.2598A=
c.3201A= (p.Val1067=)
n.3348A=
c.2394A= (p.Val798=)
c.2781A= (p.Val927=)
c.2145A= (p.Val715=)
c.-795A= (n.-795A=)
5g.177211600A>CCA447960833NSD1c.2328A>C (p.Val776=)
n.612+7308A>C
n.2784A>C
c.2892A>C (p.Val964=)
n.2598A>C
c.3201A>C (p.Val1067=)
n.3348A>C
c.2394A>C (p.Val798=)
c.2781A>C (p.Val927=)
c.2145A>C (p.Val715=)
c.-795A>C (n.-795A>C)
5g.177211600A>GCA3577395NSD1c.2328A>G (p.Val776=)
n.612+7308A>G
n.2784A>G
c.2892A>G (p.Val964=)
n.2598A>G
c.3201A>G (p.Val1067=)
n.3348A>G
c.2394A>G (p.Val798=)
c.2781A>G (p.Val927=)
c.2145A>G (p.Val715=)
c.-795A>G (n.-795A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211600A>TCA447960836NSD1c.2328A>T (p.Val776=)
n.612+7308A>T
n.2784A>T
c.2892A>T (p.Val964=)
n.2598A>T
c.3201A>T (p.Val1067=)
n.3348A>T
c.2394A>T (p.Val798=)
c.2781A>T (p.Val927=)
c.2145A>T (p.Val715=)
c.-795A>T (n.-795A>T)
5g.177211601C>ACA362322766NSD1c.2329C>A (p.Leu777Met)
n.612+7309C>A
n.2785C>A
c.2893C>A (p.Leu965Met)
n.2599C>A
c.3202C>A (p.Leu1068Met)
n.3349C>A
c.2395C>A (p.Leu799Met)
c.2782C>A (p.Leu928Met)
c.2146C>A (p.Leu716Met)
c.-794C>A (n.-794C>A)
5g.177211601C>GCA362322764NSD1c.2329C>G (p.Leu777Val)
n.612+7309C>G
n.2785C>G
c.2893C>G (p.Leu965Val)
n.2599C>G
c.3202C>G (p.Leu1068Val)
n.3349C>G
c.2395C>G (p.Leu799Val)
c.2782C>G (p.Leu928Val)
c.2146C>G (p.Leu716Val)
c.-794C>G (n.-794C>G)
5g.177211601C>TCA447960840NSD1c.2329C>T (p.Leu777=)
n.612+7309C>T
n.2785C>T
c.2893C>T (p.Leu965=)
n.2599C>T
c.3202C>T (p.Leu1068=)
n.3349C>T
c.2395C>T (p.Leu799=)
c.2782C>T (p.Leu928=)
c.2146C>T (p.Leu716=)
c.-794C>T (n.-794C>T)
dbSNP
5g.177211602T>ACA362322769NSD1c.2330T>A (p.Leu777Gln)
n.612+7310T>A
n.2786T>A
c.2894T>A (p.Leu965Gln)
n.2600T>A
c.3203T>A (p.Leu1068Gln)
n.3350T>A
c.2396T>A (p.Leu799Gln)
c.2783T>A (p.Leu928Gln)
c.2147T>A (p.Leu716Gln)
c.-793T>A (n.-793T>A)
5g.177211602T>CCA362322773NSD1c.2330T>C (p.Leu777Pro)
n.612+7310T>C
n.2786T>C
c.2894T>C (p.Leu965Pro)
n.2600T>C
c.3203T>C (p.Leu1068Pro)
n.3350T>C
c.2396T>C (p.Leu799Pro)
c.2783T>C (p.Leu928Pro)
c.2147T>C (p.Leu716Pro)
c.-793T>C (n.-793T>C)
5g.177211602T>GCA362322774NSD1c.2330T>G (p.Leu777Arg)
n.612+7310T>G
n.2786T>G
c.2894T>G (p.Leu965Arg)
n.2600T>G
c.3203T>G (p.Leu1068Arg)
n.3350T>G
c.2396T>G (p.Leu799Arg)
c.2783T>G (p.Leu928Arg)
c.2147T>G (p.Leu716Arg)
c.-793T>G (n.-793T>G)
gnomAD v4
5g.177211603G>ACA447960846NSD1c.2331G>A (p.Leu777=)
n.612+7311G>A
n.2787G>A
c.2895G>A (p.Leu965=)
n.2601G>A
c.3204G>A (p.Leu1068=)
n.3351G>A
c.2397G>A (p.Leu799=)
c.2784G>A (p.Leu928=)
c.2148G>A (p.Leu716=)
c.-792G>A (n.-792G>A)
dbSNP
5g.177211603G>CCA447960847NSD1c.2331G>C (p.Leu777=)
n.612+7311G>C
n.2787G>C
c.2895G>C (p.Leu965=)
n.2601G>C
c.3204G>C (p.Leu1068=)
n.3351G>C
c.2397G>C (p.Leu799=)
c.2784G>C (p.Leu928=)
c.2148G>C (p.Leu716=)
c.-792G>C (n.-792G>C)
5g.177211603G=CA1603478403NSD1c.2331G= (p.Leu777=)
n.612+7311G=
n.2787G=
c.2895G= (p.Leu965=)
n.2601G=
c.3204G= (p.Leu1068=)
n.3351G=
c.2397G= (p.Leu799=)
c.2784G= (p.Leu928=)
c.2148G= (p.Leu716=)
c.-792G= (n.-792G=)
5g.177211603G>TCA447960848NSD1c.2331G>T (p.Leu777=)
n.612+7311G>T
n.2787G>T
c.2895G>T (p.Leu965=)
n.2601G>T
c.3204G>T (p.Leu1068=)
n.3351G>T
c.2397G>T (p.Leu799=)
c.2784G>T (p.Leu928=)
c.2148G>T (p.Leu716=)
c.-792G>T (n.-792G>T)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched