Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177211410A=CA1603477701NSD1c.2138A= (p.Asp713=)
n.612+7118A=
n.2594A=
c.2702A= (p.Asp901=)
n.2408A=
c.3011A= (p.Asp1004=)
n.3158A=
c.2204A= (p.Asp735=)
c.2591A= (p.Asp864=)
c.1955A= (p.Asp652=)
c.-985A= (n.-985A=)
5g.177211410A>CCA362321566NSD1c.2138A>C (p.Asp713Ala)
n.612+7118A>C
n.2594A>C
c.2702A>C (p.Asp901Ala)
n.2408A>C
c.3011A>C (p.Asp1004Ala)
n.3158A>C
c.2204A>C (p.Asp735Ala)
c.2591A>C (p.Asp864Ala)
c.1955A>C (p.Asp652Ala)
c.-985A>C (n.-985A>C)
5g.177211410A>GCA362321571NSD1c.2138A>G (p.Asp713Gly)
n.612+7118A>G
n.2594A>G
c.2702A>G (p.Asp901Gly)
n.2408A>G
c.3011A>G (p.Asp1004Gly)
n.3158A>G
c.2204A>G (p.Asp735Gly)
c.2591A>G (p.Asp864Gly)
c.1955A>G (p.Asp652Gly)
c.-985A>G (n.-985A>G)
dbSNP
5g.177211410A>TCA362321568NSD1c.2138A>T (p.Asp713Val)
n.612+7118A>T
n.2594A>T
c.2702A>T (p.Asp901Val)
n.2408A>T
c.3011A>T (p.Asp1004Val)
n.3158A>T
c.2204A>T (p.Asp735Val)
c.2591A>T (p.Asp864Val)
c.1955A>T (p.Asp652Val)
c.-985A>T (n.-985A>T)
5g.177211411C>ACA3577357NSD1c.2139C>A (p.Asp713Glu)
n.612+7119C>A
n.2595C>A
c.2703C>A (p.Asp901Glu)
n.2409C>A
c.3012C>A (p.Asp1004Glu)
n.3159C>A
c.2205C>A (p.Asp735Glu)
c.2592C>A (p.Asp864Glu)
c.1956C>A (p.Asp652Glu)
c.-984C>A (n.-984C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211411C=CA1603477704NSD1c.2139C= (p.Asp713=)
n.612+7119C=
n.2595C=
c.2703C= (p.Asp901=)
n.2409C=
c.3012C= (p.Asp1004=)
n.3159C=
c.2205C= (p.Asp735=)
c.2592C= (p.Asp864=)
c.1956C= (p.Asp652=)
c.-984C= (n.-984C=)
5g.177211411C>GCA362321574NSD1c.2139C>G (p.Asp713Glu)
n.612+7119C>G
n.2595C>G
c.2703C>G (p.Asp901Glu)
n.2409C>G
c.3012C>G (p.Asp1004Glu)
n.3159C>G
c.2205C>G (p.Asp735Glu)
c.2592C>G (p.Asp864Glu)
c.1956C>G (p.Asp652Glu)
c.-984C>G (n.-984C>G)
gnomAD v4
5g.177211411C>TCA447960633NSD1c.2139C>T (p.Asp713=)
n.612+7119C>T
n.2595C>T
c.2703C>T (p.Asp901=)
n.2409C>T
c.3012C>T (p.Asp1004=)
n.3159C>T
c.2205C>T (p.Asp735=)
c.2592C>T (p.Asp864=)
c.1956C>T (p.Asp652=)
c.-984C>T (n.-984C>T)
gnomAD v4
5g.177211412C>ACA362321577NSD1c.2140C>A (p.Leu714Ile)
n.612+7120C>A
n.2596C>A
c.2704C>A (p.Leu902Ile)
n.2410C>A
c.3013C>A (p.Leu1005Ile)
n.3160C>A
c.2206C>A (p.Leu736Ile)
c.2593C>A (p.Leu865Ile)
c.1957C>A (p.Leu653Ile)
c.-983C>A (n.-983C>A)
dbSNP
5g.177211412C=CA1603477708NSD1c.2140C= (p.Leu714=)
n.612+7120C=
n.2596C=
c.2704C= (p.Leu902=)
n.2410C=
c.3013C= (p.Leu1005=)
n.3160C=
c.2206C= (p.Leu736=)
c.2593C= (p.Leu865=)
c.1957C= (p.Leu653=)
c.-983C= (n.-983C=)
5g.177211412C>GCA362321578NSD1c.2140C>G (p.Leu714Val)
n.612+7120C>G
n.2596C>G
c.2704C>G (p.Leu902Val)
n.2410C>G
c.3013C>G (p.Leu1005Val)
n.3160C>G
c.2206C>G (p.Leu736Val)
c.2593C>G (p.Leu865Val)
c.1957C>G (p.Leu653Val)
c.-983C>G (n.-983C>G)
5g.177211412C>TCA362321580NSD1c.2140C>T (p.Leu714Phe)
n.612+7120C>T
n.2596C>T
c.2704C>T (p.Leu902Phe)
n.2410C>T
c.3013C>T (p.Leu1005Phe)
n.3160C>T
c.2206C>T (p.Leu736Phe)
c.2593C>T (p.Leu865Phe)
c.1957C>T (p.Leu653Phe)
c.-983C>T (n.-983C>T)
dbSNP gnomAD v4
5g.177211413T>ACA362321586NSD1c.2141T>A (p.Leu714His)
n.612+7121T>A
n.2597T>A
c.2705T>A (p.Leu902His)
n.2411T>A
c.3014T>A (p.Leu1005His)
n.3161T>A
c.2207T>A (p.Leu736His)
c.2594T>A (p.Leu865His)
c.1958T>A (p.Leu653His)
c.-982T>A (n.-982T>A)
5g.177211413T>CCA362321584NSD1c.2141T>C (p.Leu714Pro)
n.612+7121T>C
n.2597T>C
c.2705T>C (p.Leu902Pro)
n.2411T>C
c.3014T>C (p.Leu1005Pro)
n.3161T>C
c.2207T>C (p.Leu736Pro)
c.2594T>C (p.Leu865Pro)
c.1958T>C (p.Leu653Pro)
c.-982T>C (n.-982T>C)
5g.177211413T>GCA362321582NSD1c.2141T>G (p.Leu714Arg)
n.612+7121T>G
n.2597T>G
c.2705T>G (p.Leu902Arg)
n.2411T>G
c.3014T>G (p.Leu1005Arg)
n.3161T>G
c.2207T>G (p.Leu736Arg)
c.2594T>G (p.Leu865Arg)
c.1958T>G (p.Leu653Arg)
c.-982T>G (n.-982T>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.177211413T=CA1603477713NSD1c.2141T= (p.Leu714=)
n.612+7121T=
n.2597T=
c.2705T= (p.Leu902=)
n.2411T=
c.3014T= (p.Leu1005=)
n.3161T=
c.2207T= (p.Leu736=)
c.2594T= (p.Leu865=)
c.1958T= (p.Leu653=)
c.-982T= (n.-982T=)
5g.177211414C>ACA447960644NSD1c.2142C>A (p.Leu714=)
n.612+7122C>A
n.2598C>A
c.2706C>A (p.Leu902=)
n.2412C>A
c.3015C>A (p.Leu1005=)
n.3162C>A
c.2208C>A (p.Leu736=)
c.2595C>A (p.Leu865=)
c.1959C>A (p.Leu653=)
c.-981C>A (n.-981C>A)
5g.177211414C>GCA447960642NSD1c.2142C>G (p.Leu714=)
n.612+7122C>G
n.2598C>G
c.2706C>G (p.Leu902=)
n.2412C>G
c.3015C>G (p.Leu1005=)
n.3162C>G
c.2208C>G (p.Leu736=)
c.2595C>G (p.Leu865=)
c.1959C>G (p.Leu653=)
c.-981C>G (n.-981C>G)
dbSNP
5g.177211414C>TCA447960641NSD1c.2142C>T (p.Leu714=)
n.612+7122C>T
n.2598C>T
c.2706C>T (p.Leu902=)
n.2412C>T
c.3015C>T (p.Leu1005=)
n.3162C>T
c.2208C>T (p.Leu736=)
c.2595C>T (p.Leu865=)
c.1959C>T (p.Leu653=)
c.-981C>T (n.-981C>T)
gnomAD v4
5g.177211416delCA2573052477NSD1c.2144del (p.Pro715LeufsTer?)
n.612+7124del
n.2600del
c.2708del (p.Pro903LeufsTer?)
n.2414del
c.3017del (p.Pro1006LeufsTer?)
n.3164del
c.2210del (p.Pro737LeufsTer?)
c.2597del (p.Pro866LeufsTer?)
c.1961del (p.Pro654LeufsTer?)
c.-979del (n.-979del)
ClinVar dbSNP
5g.177211415C>ACA362321588NSD1c.2143C>A (p.Pro715Thr)
n.612+7123C>A
n.2599C>A
c.2707C>A (p.Pro903Thr)
n.2413C>A
c.3016C>A (p.Pro1006Thr)
n.3163C>A
c.2209C>A (p.Pro737Thr)
c.2596C>A (p.Pro866Thr)
c.1960C>A (p.Pro654Thr)
c.-980C>A (n.-980C>A)
5g.177211415C=CA1603477720NSD1c.2143C= (p.Pro715=)
n.612+7123C=
n.2599C=
c.2707C= (p.Pro903=)
n.2413C=
c.3016C= (p.Pro1006=)
n.3163C=
c.2209C= (p.Pro737=)
c.2596C= (p.Pro866=)
c.1960C= (p.Pro654=)
c.-980C= (n.-980C=)
5g.177211415C>GCA3577358NSD1c.2143C>G (p.Pro715Ala)
n.612+7123C>G
n.2599C>G
c.2707C>G (p.Pro903Ala)
n.2413C>G
c.3016C>G (p.Pro1006Ala)
n.3163C>G
c.2209C>G (p.Pro737Ala)
c.2596C>G (p.Pro866Ala)
c.1960C>G (p.Pro654Ala)
c.-980C>G (n.-980C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211415C>TCA3577359NSD1c.2143C>T (p.Pro715Ser)
n.612+7123C>T
n.2599C>T
c.2707C>T (p.Pro903Ser)
n.2413C>T
c.3016C>T (p.Pro1006Ser)
n.3163C>T
c.2209C>T (p.Pro737Ser)
c.2596C>T (p.Pro866Ser)
c.1960C>T (p.Pro654Ser)
c.-980C>T (n.-980C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211416C>ACA362321594NSD1c.2144C>A (p.Pro715His)
n.612+7124C>A
n.2600C>A
c.2708C>A (p.Pro903His)
n.2414C>A
c.3017C>A (p.Pro1006His)
n.3164C>A
c.2210C>A (p.Pro737His)
c.2597C>A (p.Pro866His)
c.1961C>A (p.Pro654His)
c.-979C>A (n.-979C>A)
dbSNP gnomAD v4
5g.177211416C=CA1603477727NSD1c.2144C= (p.Pro715=)
n.612+7124C=
n.2600C=
c.2708C= (p.Pro903=)
n.2414C=
c.3017C= (p.Pro1006=)
n.3164C=
c.2210C= (p.Pro737=)
c.2597C= (p.Pro866=)
c.1961C= (p.Pro654=)
c.-979C= (n.-979C=)
5g.177211416C>GCA362321596NSD1c.2144C>G (p.Pro715Arg)
n.612+7124C>G
n.2600C>G
c.2708C>G (p.Pro903Arg)
n.2414C>G
c.3017C>G (p.Pro1006Arg)
n.3164C>G
c.2210C>G (p.Pro737Arg)
c.2597C>G (p.Pro866Arg)
c.1961C>G (p.Pro654Arg)
c.-979C>G (n.-979C>G)
5g.177211416C>TCA3577360NSD1c.2144C>T (p.Pro715Leu)
n.612+7124C>T
n.2600C>T
c.2708C>T (p.Pro903Leu)
n.2414C>T
c.3017C>T (p.Pro1006Leu)
n.3164C>T
c.2210C>T (p.Pro737Leu)
c.2597C>T (p.Pro866Leu)
c.1961C>T (p.Pro654Leu)
c.-979C>T (n.-979C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211417T>ACA447960656NSD1c.2145T>A (p.Pro715=)
n.612+7125T>A
n.2601T>A
c.2709T>A (p.Pro903=)
n.2415T>A
c.3018T>A (p.Pro1006=)
n.3165T>A
c.2211T>A (p.Pro737=)
c.2598T>A (p.Pro866=)
c.1962T>A (p.Pro654=)
c.-978T>A (n.-978T>A)
COSMIC COSMIC
5g.177211417T>CCA447960653NSD1c.2145T>C (p.Pro715=)
n.612+7125T>C
n.2601T>C
c.2709T>C (p.Pro903=)
n.2415T>C
c.3018T>C (p.Pro1006=)
n.3165T>C
c.2211T>C (p.Pro737=)
c.2598T>C (p.Pro866=)
c.1962T>C (p.Pro654=)
c.-978T>C (n.-978T>C)
5g.177211417T>GCA447960651NSD1c.2145T>G (p.Pro715=)
n.612+7125T>G
n.2601T>G
c.2709T>G (p.Pro903=)
n.2415T>G
c.3018T>G (p.Pro1006=)
n.3165T>G
c.2211T>G (p.Pro737=)
c.2598T>G (p.Pro866=)
c.1962T>G (p.Pro654=)
c.-978T>G (n.-978T>G)
5g.177211418G>ACA362321602NSD1c.2146G>A (p.Ala716Thr)
n.612+7126G>A
n.2602G>A
c.2710G>A (p.Ala904Thr)
n.2416G>A
c.3019G>A (p.Ala1007Thr)
n.3166G>A
c.2212G>A (p.Ala738Thr)
c.2599G>A (p.Ala867Thr)
c.1963G>A (p.Ala655Thr)
c.-977G>A (n.-977G>A)
5g.177211418G>CCA362321606NSD1c.2146G>C (p.Ala716Pro)
n.612+7126G>C
n.2602G>C
c.2710G>C (p.Ala904Pro)
n.2416G>C
c.3019G>C (p.Ala1007Pro)
n.3166G>C
c.2212G>C (p.Ala738Pro)
c.2599G>C (p.Ala867Pro)
c.1963G>C (p.Ala655Pro)
c.-977G>C (n.-977G>C)
dbSNP
5g.177211418G>TCA362321604NSD1c.2146G>T (p.Ala716Ser)
n.612+7126G>T
n.2602G>T
c.2710G>T (p.Ala904Ser)
n.2416G>T
c.3019G>T (p.Ala1007Ser)
n.3166G>T
c.2212G>T (p.Ala738Ser)
c.2599G>T (p.Ala867Ser)
c.1963G>T (p.Ala655Ser)
c.-977G>T (n.-977G>T)
5g.177211419C>ACA362321609NSD1c.2147C>A (p.Ala716Asp)
n.612+7127C>A
n.2603C>A
c.2711C>A (p.Ala904Asp)
n.2417C>A
c.3020C>A (p.Ala1007Asp)
n.3167C>A
c.2213C>A (p.Ala738Asp)
c.2600C>A (p.Ala867Asp)
c.1964C>A (p.Ala655Asp)
c.-976C>A (n.-976C>A)
5g.177211419C=CA1603477732NSD1c.2147C= (p.Ala716=)
n.612+7127C=
n.2603C=
c.2711C= (p.Ala904=)
n.2417C=
c.3020C= (p.Ala1007=)
n.3167C=
c.2213C= (p.Ala738=)
c.2600C= (p.Ala867=)
c.1964C= (p.Ala655=)
c.-976C= (n.-976C=)
5g.177211419C>GCA362321611NSD1c.2147C>G (p.Ala716Gly)
n.612+7127C>G
n.2603C>G
c.2711C>G (p.Ala904Gly)
n.2417C>G
c.3020C>G (p.Ala1007Gly)
n.3167C>G
c.2213C>G (p.Ala738Gly)
c.2600C>G (p.Ala867Gly)
c.1964C>G (p.Ala655Gly)
c.-976C>G (n.-976C>G)
5g.177211419C>TCA3577361NSD1c.2147C>T (p.Ala716Val)
n.612+7127C>T
n.2603C>T
c.2711C>T (p.Ala904Val)
n.2417C>T
c.3020C>T (p.Ala1007Val)
n.3167C>T
c.2213C>T (p.Ala738Val)
c.2600C>T (p.Ala867Val)
c.1964C>T (p.Ala655Val)
c.-976C>T (n.-976C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211420T>ACA447960660NSD1c.2148T>A (p.Ala716=)
n.612+7128T>A
n.2604T>A
c.2712T>A (p.Ala904=)
n.2418T>A
c.3021T>A (p.Ala1007=)
n.3168T>A
c.2214T>A (p.Ala738=)
c.2601T>A (p.Ala867=)
c.1965T>A (p.Ala655=)
c.-975T>A (n.-975T>A)
5g.177211420T>CCA3577362NSD1c.2148T>C (p.Ala716=)
n.612+7128T>C
n.2604T>C
c.2712T>C (p.Ala904=)
n.2418T>C
c.3021T>C (p.Ala1007=)
n.3168T>C
c.2214T>C (p.Ala738=)
c.2601T>C (p.Ala867=)
c.1965T>C (p.Ala655=)
c.-975T>C (n.-975T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211420T>GCA447960666NSD1c.2148T>G (p.Ala716=)
n.612+7128T>G
n.2604T>G
c.2712T>G (p.Ala904=)
n.2418T>G
c.3021T>G (p.Ala1007=)
n.3168T>G
c.2214T>G (p.Ala738=)
c.2601T>G (p.Ala867=)
c.1965T>G (p.Ala655=)
c.-975T>G (n.-975T>G)
5g.177211420T=CA1603477738NSD1c.2148T= (p.Ala716=)
n.612+7128T=
n.2604T=
c.2712T= (p.Ala904=)
n.2418T=
c.3021T= (p.Ala1007=)
n.3168T=
c.2214T= (p.Ala738=)
c.2601T= (p.Ala867=)
c.1965T= (p.Ala655=)
c.-975T= (n.-975T=)
5g.177211421T>ACA362321616NSD1c.2149T>A (p.Ser717Thr)
n.612+7129T>A
n.2605T>A
c.2713T>A (p.Ser905Thr)
n.2419T>A
c.3022T>A (p.Ser1008Thr)
n.3169T>A
c.2215T>A (p.Ser739Thr)
c.2602T>A (p.Ser868Thr)
c.1966T>A (p.Ser656Thr)
c.-974T>A (n.-974T>A)
5g.177211421T>CCA362321618NSD1c.2149T>C (p.Ser717Pro)
n.612+7129T>C
n.2605T>C
c.2713T>C (p.Ser905Pro)
n.2419T>C
c.3022T>C (p.Ser1008Pro)
n.3169T>C
c.2215T>C (p.Ser739Pro)
c.2602T>C (p.Ser868Pro)
c.1966T>C (p.Ser656Pro)
c.-974T>C (n.-974T>C)
5g.177211421T>GCA362321620NSD1c.2149T>G (p.Ser717Ala)
n.612+7129T>G
n.2605T>G
c.2713T>G (p.Ser905Ala)
n.2419T>G
c.3022T>G (p.Ser1008Ala)
n.3169T>G
c.2215T>G (p.Ser739Ala)
c.2602T>G (p.Ser868Ala)
c.1966T>G (p.Ser656Ala)
c.-974T>G (n.-974T>G)
5g.177211422C>ACA362321623NSD1c.2150C>A (p.Ser717Tyr)
n.612+7130C>A
n.2606C>A
c.2714C>A (p.Ser905Tyr)
n.2420C>A
c.3023C>A (p.Ser1008Tyr)
n.3170C>A
c.2216C>A (p.Ser739Tyr)
c.2603C>A (p.Ser868Tyr)
c.1967C>A (p.Ser656Tyr)
c.-973C>A (n.-973C>A)
5g.177211422C>GCA362321624NSD1c.2150C>G (p.Ser717Cys)
n.612+7130C>G
n.2606C>G
c.2714C>G (p.Ser905Cys)
n.2420C>G
c.3023C>G (p.Ser1008Cys)
n.3170C>G
c.2216C>G (p.Ser739Cys)
c.2603C>G (p.Ser868Cys)
c.1967C>G (p.Ser656Cys)
c.-973C>G (n.-973C>G)
5g.177211422C>TCA362321626NSD1c.2150C>T (p.Ser717Phe)
n.612+7130C>T
n.2606C>T
c.2714C>T (p.Ser905Phe)
n.2420C>T
c.3023C>T (p.Ser1008Phe)
n.3170C>T
c.2216C>T (p.Ser739Phe)
c.2603C>T (p.Ser868Phe)
c.1967C>T (p.Ser656Phe)
c.-973C>T (n.-973C>T)
gnomAD v4
5g.177211423T>ACA447960670NSD1c.2151T>A (p.Ser717=)
n.612+7131T>A
n.2607T>A
c.2715T>A (p.Ser905=)
n.2421T>A
c.3024T>A (p.Ser1008=)
n.3171T>A
c.2217T>A (p.Ser739=)
c.2604T>A (p.Ser868=)
c.1968T>A (p.Ser656=)
c.-972T>A (n.-972T>A)
5g.177211423T>CCA447960672NSD1c.2151T>C (p.Ser717=)
n.612+7131T>C
n.2607T>C
c.2715T>C (p.Ser905=)
n.2421T>C
c.3024T>C (p.Ser1008=)
n.3171T>C
c.2217T>C (p.Ser739=)
c.2604T>C (p.Ser868=)
c.1968T>C (p.Ser656=)
c.-972T>C (n.-972T>C)
5g.177211423T>GCA447960674NSD1c.2151T>G (p.Ser717=)
n.612+7131T>G
n.2607T>G
c.2715T>G (p.Ser905=)
n.2421T>G
c.3024T>G (p.Ser1008=)
n.3171T>G
c.2217T>G (p.Ser739=)
c.2604T>G (p.Ser868=)
c.1968T>G (p.Ser656=)
c.-972T>G (n.-972T>G)
5g.177211424G>ACA362321629NSD1c.2152G>A (p.Gly718Ser)
n.612+7132G>A
n.2608G>A
c.2716G>A (p.Gly906Ser)
n.2422G>A
c.3025G>A (p.Gly1009Ser)
n.3172G>A
c.2218G>A (p.Gly740Ser)
c.2605G>A (p.Gly869Ser)
c.1969G>A (p.Gly657Ser)
c.-971G>A (n.-971G>A)
5g.177211424G>CCA362321633NSD1c.2152G>C (p.Gly718Arg)
n.612+7132G>C
n.2608G>C
c.2716G>C (p.Gly906Arg)
n.2422G>C
c.3025G>C (p.Gly1009Arg)
n.3172G>C
c.2218G>C (p.Gly740Arg)
c.2605G>C (p.Gly869Arg)
c.1969G>C (p.Gly657Arg)
c.-971G>C (n.-971G>C)
5g.177211424G>TCA362321631NSD1c.2152G>T (p.Gly718Cys)
n.612+7132G>T
n.2608G>T
c.2716G>T (p.Gly906Cys)
n.2422G>T
c.3025G>T (p.Gly1009Cys)
n.3172G>T
c.2218G>T (p.Gly740Cys)
c.2605G>T (p.Gly869Cys)
c.1969G>T (p.Gly657Cys)
c.-971G>T (n.-971G>T)
5g.177211425G>ACA362321636NSD1c.2153G>A (p.Gly718Asp)
n.612+7133G>A
n.2609G>A
c.2717G>A (p.Gly906Asp)
n.2423G>A
c.3026G>A (p.Gly1009Asp)
n.3173G>A
c.2219G>A (p.Gly740Asp)
c.2606G>A (p.Gly869Asp)
c.1970G>A (p.Gly657Asp)
c.-970G>A (n.-970G>A)
5g.177211425G>CCA362321641NSD1c.2153G>C (p.Gly718Ala)
n.612+7133G>C
n.2609G>C
c.2717G>C (p.Gly906Ala)
n.2423G>C
c.3026G>C (p.Gly1009Ala)
n.3173G>C
c.2219G>C (p.Gly740Ala)
c.2606G>C (p.Gly869Ala)
c.1970G>C (p.Gly657Ala)
c.-970G>C (n.-970G>C)
5g.177211425G>TCA362321638NSD1c.2153G>T (p.Gly718Val)
n.612+7133G>T
n.2609G>T
c.2717G>T (p.Gly906Val)
n.2423G>T
c.3026G>T (p.Gly1009Val)
n.3173G>T
c.2219G>T (p.Gly740Val)
c.2606G>T (p.Gly869Val)
c.1970G>T (p.Gly657Val)
c.-970G>T (n.-970G>T)
5g.177211426T>ACA447960683NSD1c.2154T>A (p.Gly718=)
n.612+7134T>A
n.2610T>A
c.2718T>A (p.Gly906=)
n.2424T>A
c.3027T>A (p.Gly1009=)
n.3174T>A
c.2220T>A (p.Gly740=)
c.2607T>A (p.Gly869=)
c.1971T>A (p.Gly657=)
c.-969T>A (n.-969T>A)
5g.177211426T>CCA447960684NSD1c.2154T>C (p.Gly718=)
n.612+7134T>C
n.2610T>C
c.2718T>C (p.Gly906=)
n.2424T>C
c.3027T>C (p.Gly1009=)
n.3174T>C
c.2220T>C (p.Gly740=)
c.2607T>C (p.Gly869=)
c.1971T>C (p.Gly657=)
c.-969T>C (n.-969T>C)
5g.177211426T>GCA447960685NSD1c.2154T>G (p.Gly718=)
n.612+7134T>G
n.2610T>G
c.2718T>G (p.Gly906=)
n.2424T>G
c.3027T>G (p.Gly1009=)
n.3174T>G
c.2220T>G (p.Gly740=)
c.2607T>G (p.Gly869=)
c.1971T>G (p.Gly657=)
c.-969T>G (n.-969T>G)
5g.177211427A>CCA362321644NSD1c.2155A>C (p.Lys719Gln)
n.612+7135A>C
n.2611A>C
c.2719A>C (p.Lys907Gln)
n.2425A>C
c.3028A>C (p.Lys1010Gln)
n.3175A>C
c.2221A>C (p.Lys741Gln)
c.2608A>C (p.Lys870Gln)
c.1972A>C (p.Lys658Gln)
c.-968A>C (n.-968A>C)
5g.177211427A>GCA362321648NSD1c.2155A>G (p.Lys719Glu)
n.612+7135A>G
n.2611A>G
c.2719A>G (p.Lys907Glu)
n.2425A>G
c.3028A>G (p.Lys1010Glu)
n.3175A>G
c.2221A>G (p.Lys741Glu)
c.2608A>G (p.Lys870Glu)
c.1972A>G (p.Lys658Glu)
c.-968A>G (n.-968A>G)
5g.177211427A>TCA362321646NSD1c.2155A>T (p.Lys719Ter)
n.612+7135A>T
n.2611A>T
c.2719A>T (p.Lys907Ter)
n.2425A>T
c.3028A>T (p.Lys1010Ter)
n.3175A>T
c.2221A>T (p.Lys741Ter)
c.2608A>T (p.Lys870Ter)
c.1972A>T (p.Lys658Ter)
c.-968A>T (n.-968A>T)
5g.177211430delCA2573139463NSD1c.2158del (p.Ser720ValfsTer29)
n.612+7138del
n.2614del
c.2722del (p.Ser908ValfsTer29)
n.2428del
c.3031del (p.Ser1011ValfsTer29)
n.3178del
c.2224del (p.Ser742ValfsTer29)
c.2611del (p.Ser871ValfsTer29)
c.1975del (p.Ser659ValfsTer29)
c.-965del (n.-965del)
ClinVar dbSNP
5g.177211428A=CA1603477756NSD1c.2156A= (p.Lys719=)
n.612+7136A=
n.2612A=
c.2720A= (p.Lys907=)
n.2426A=
c.3029A= (p.Lys1010=)
n.3176A=
c.2222A= (p.Lys741=)
c.2609A= (p.Lys870=)
c.1973A= (p.Lys658=)
c.-967A= (n.-967A=)
5g.177211428A>CCA362321651NSD1c.2156A>C (p.Lys719Thr)
n.612+7136A>C
n.2612A>C
c.2720A>C (p.Lys907Thr)
n.2426A>C
c.3029A>C (p.Lys1010Thr)
n.3176A>C
c.2222A>C (p.Lys741Thr)
c.2609A>C (p.Lys870Thr)
c.1973A>C (p.Lys658Thr)
c.-967A>C (n.-967A>C)
5g.177211428A>GCA362321653NSD1c.2156A>G (p.Lys719Arg)
n.612+7136A>G
n.2612A>G
c.2720A>G (p.Lys907Arg)
n.2426A>G
c.3029A>G (p.Lys1010Arg)
n.3176A>G
c.2222A>G (p.Lys741Arg)
c.2609A>G (p.Lys870Arg)
c.1973A>G (p.Lys658Arg)
c.-967A>G (n.-967A>G)
ClinVar dbSNP gnomAD v4
5g.177211428A>TCA3577363NSD1c.2156A>T (p.Lys719Ile)
n.612+7136A>T
n.2612A>T
c.2720A>T (p.Lys907Ile)
n.2426A>T
c.3029A>T (p.Lys1010Ile)
n.3176A>T
c.2222A>T (p.Lys741Ile)
c.2609A>T (p.Lys870Ile)
c.1973A>T (p.Lys658Ile)
c.-967A>T (n.-967A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211429A=CA1603477766NSD1c.2157A= (p.Lys719=)
n.612+7137A=
n.2613A=
c.2721A= (p.Lys907=)
n.2427A=
c.3030A= (p.Lys1010=)
n.3177A=
c.2223A= (p.Lys741=)
c.2610A= (p.Lys870=)
c.1974A= (p.Lys658=)
c.-966A= (n.-966A=)
5g.177211429A>CCA362321656NSD1c.2157A>C (p.Lys719Asn)
n.612+7137A>C
n.2613A>C
c.2721A>C (p.Lys907Asn)
n.2427A>C
c.3030A>C (p.Lys1010Asn)
n.3177A>C
c.2223A>C (p.Lys741Asn)
c.2610A>C (p.Lys870Asn)
c.1974A>C (p.Lys658Asn)
c.-966A>C (n.-966A>C)
5g.177211429A>GCA447960691NSD1c.2157A>G (p.Lys719=)
n.612+7137A>G
n.2613A>G
c.2721A>G (p.Lys907=)
n.2427A>G
c.3030A>G (p.Lys1010=)
n.3177A>G
c.2223A>G (p.Lys741=)
c.2610A>G (p.Lys870=)
c.1974A>G (p.Lys658=)
c.-966A>G (n.-966A>G)
dbSNP gnomAD v3 gnomAD v4
5g.177211429A>TCA362321658NSD1c.2157A>T (p.Lys719Asn)
n.612+7137A>T
n.2613A>T
c.2721A>T (p.Lys907Asn)
n.2427A>T
c.3030A>T (p.Lys1010Asn)
n.3177A>T
c.2223A>T (p.Lys741Asn)
c.2610A>T (p.Lys870Asn)
c.1974A>T (p.Lys658Asn)
c.-966A>T (n.-966A>T)
5g.177211430A>CCA362321661NSD1c.2158A>C (p.Ser720Arg)
n.612+7138A>C
n.2614A>C
c.2722A>C (p.Ser908Arg)
n.2428A>C
c.3031A>C (p.Ser1011Arg)
n.3178A>C
c.2224A>C (p.Ser742Arg)
c.2611A>C (p.Ser871Arg)
c.1975A>C (p.Ser659Arg)
c.-965A>C (n.-965A>C)
5g.177211430A>GCA362321663NSD1c.2158A>G (p.Ser720Gly)
n.612+7138A>G
n.2614A>G
c.2722A>G (p.Ser908Gly)
n.2428A>G
c.3031A>G (p.Ser1011Gly)
n.3178A>G
c.2224A>G (p.Ser742Gly)
c.2611A>G (p.Ser871Gly)
c.1975A>G (p.Ser659Gly)
c.-965A>G (n.-965A>G)
5g.177211430A>TCA362321665NSD1c.2158A>T (p.Ser720Cys)
n.612+7138A>T
n.2614A>T
c.2722A>T (p.Ser908Cys)
n.2428A>T
c.3031A>T (p.Ser1011Cys)
n.3178A>T
c.2224A>T (p.Ser742Cys)
c.2611A>T (p.Ser871Cys)
c.1975A>T (p.Ser659Cys)
c.-965A>T (n.-965A>T)
5g.177211431G>ACA3577364NSD1c.2159G>A (p.Ser720Asn)
n.612+7139G>A
n.2615G>A
c.2723G>A (p.Ser908Asn)
n.2429G>A
c.3032G>A (p.Ser1011Asn)
n.3179G>A
c.2225G>A (p.Ser742Asn)
c.2612G>A (p.Ser871Asn)
c.1976G>A (p.Ser659Asn)
c.-964G>A (n.-964G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211431G>CCA362321669NSD1c.2159G>C (p.Ser720Thr)
n.612+7139G>C
n.2615G>C
c.2723G>C (p.Ser908Thr)
n.2429G>C
c.3032G>C (p.Ser1011Thr)
n.3179G>C
c.2225G>C (p.Ser742Thr)
c.2612G>C (p.Ser871Thr)
c.1976G>C (p.Ser659Thr)
c.-964G>C (n.-964G>C)
COSMIC COSMIC
5g.177211431G=CA1603477776NSD1c.2159G= (p.Ser720=)
n.612+7139G=
n.2615G=
c.2723G= (p.Ser908=)
n.2429G=
c.3032G= (p.Ser1011=)
n.3179G=
c.2225G= (p.Ser742=)
c.2612G= (p.Ser871=)
c.1976G= (p.Ser659=)
c.-964G= (n.-964G=)
5g.177211431G>TCA362321671NSD1c.2159G>T (p.Ser720Ile)
n.612+7139G>T
n.2615G>T
c.2723G>T (p.Ser908Ile)
n.2429G>T
c.3032G>T (p.Ser1011Ile)
n.3179G>T
c.2225G>T (p.Ser742Ile)
c.2612G>T (p.Ser871Ile)
c.1976G>T (p.Ser659Ile)
c.-964G>T (n.-964G>T)
5g.177211432T>ACA362321674NSD1c.2160T>A (p.Ser720Arg)
n.612+7140T>A
n.2616T>A
c.2724T>A (p.Ser908Arg)
n.2430T>A
c.3033T>A (p.Ser1011Arg)
n.3180T>A
c.2226T>A (p.Ser742Arg)
c.2613T>A (p.Ser871Arg)
c.1977T>A (p.Ser659Arg)
c.-963T>A (n.-963T>A)
dbSNP
5g.177211432T>CCA447960696NSD1c.2160T>C (p.Ser720=)
n.612+7140T>C
n.2616T>C
c.2724T>C (p.Ser908=)
n.2430T>C
c.3033T>C (p.Ser1011=)
n.3180T>C
c.2226T>C (p.Ser742=)
c.2613T>C (p.Ser871=)
c.1977T>C (p.Ser659=)
c.-963T>C (n.-963T>C)
5g.177211432T>GCA362321676NSD1c.2160T>G (p.Ser720Arg)
n.612+7140T>G
n.2616T>G
c.2724T>G (p.Ser908Arg)
n.2430T>G
c.3033T>G (p.Ser1011Arg)
n.3180T>G
c.2226T>G (p.Ser742Arg)
c.2613T>G (p.Ser871Arg)
c.1977T>G (p.Ser659Arg)
c.-963T>G (n.-963T>G)
5g.177211433C>ACA362321682NSD1c.2161C>A (p.Arg721Ser)
n.612+7141C>A
n.2617C>A
c.2725C>A (p.Arg909Ser)
n.2431C>A
c.3034C>A (p.Arg1012Ser)
n.3181C>A
c.2227C>A (p.Arg743Ser)
c.2614C>A (p.Arg872Ser)
c.1978C>A (p.Arg660Ser)
c.-962C>A (n.-962C>A)
5g.177211433C=CA1603477779NSD1c.2161C= (p.Arg721=)
n.612+7141C=
n.2617C=
c.2725C= (p.Arg909=)
n.2431C=
c.3034C= (p.Arg1012=)
n.3181C=
c.2227C= (p.Arg743=)
c.2614C= (p.Arg872=)
c.1978C= (p.Arg660=)
c.-962C= (n.-962C=)
5g.177211433C>GCA362321679NSD1c.2161C>G (p.Arg721Gly)
n.612+7141C>G
n.2617C>G
c.2725C>G (p.Arg909Gly)
n.2431C>G
c.3034C>G (p.Arg1012Gly)
n.3181C>G
c.2227C>G (p.Arg743Gly)
c.2614C>G (p.Arg872Gly)
c.1978C>G (p.Arg660Gly)
c.-962C>G (n.-962C>G)
dbSNP
5g.177211433C>TCA3577365NSD1c.2161C>T (p.Arg721Cys)
n.612+7141C>T
n.2617C>T
c.2725C>T (p.Arg909Cys)
n.2431C>T
c.3034C>T (p.Arg1012Cys)
n.3181C>T
c.2227C>T (p.Arg743Cys)
c.2614C>T (p.Arg872Cys)
c.1978C>T (p.Arg660Cys)
c.-962C>T (n.-962C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211434G>ACA3577366NSD1c.2162G>A (p.Arg721His)
n.612+7142G>A
n.2618G>A
c.2726G>A (p.Arg909His)
n.2432G>A
c.3035G>A (p.Arg1012His)
n.3182G>A
c.2228G>A (p.Arg743His)
c.2615G>A (p.Arg872His)
c.1979G>A (p.Arg660His)
c.-961G>A (n.-961G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177211434G>CCA362321687NSD1c.2162G>C (p.Arg721Pro)
n.612+7142G>C
n.2618G>C
c.2726G>C (p.Arg909Pro)
n.2432G>C
c.3035G>C (p.Arg1012Pro)
n.3182G>C
c.2228G>C (p.Arg743Pro)
c.2615G>C (p.Arg872Pro)
c.1979G>C (p.Arg660Pro)
c.-961G>C (n.-961G>C)
dbSNP
5g.177211434G=CA1603477784NSD1c.2162G= (p.Arg721=)
n.612+7142G=
n.2618G=
c.2726G= (p.Arg909=)
n.2432G=
c.3035G= (p.Arg1012=)
n.3182G=
c.2228G= (p.Arg743=)
c.2615G= (p.Arg872=)
c.1979G= (p.Arg660=)
c.-961G= (n.-961G=)
5g.177211434G>TCA362321689NSD1c.2162G>T (p.Arg721Leu)
n.612+7142G>T
n.2618G>T
c.2726G>T (p.Arg909Leu)
n.2432G>T
c.3035G>T (p.Arg1012Leu)
n.3182G>T
c.2228G>T (p.Arg743Leu)
c.2615G>T (p.Arg872Leu)
c.1979G>T (p.Arg660Leu)
c.-961G>T (n.-961G>T)
gnomAD v4
5g.177211435_177211453dupCA658822924NSD1c.2163_2181dup (p.Arg728PhefsTer6)
n.612+7143_612+7161dup
n.2619_2637dup
c.2727_2745dup (p.Arg916PhefsTer6)
n.2433_2451dup
c.3036_3054dup (p.Arg1019PhefsTer6)
n.3183_3201dup
c.2229_2247dup (p.Arg750PhefsTer6)
c.2616_2634dup (p.Arg879PhefsTer6)
c.1980_1998dup (p.Arg667PhefsTer6)
c.-960_-942dup (n.-960_-942dup)
ClinVar dbSNP
5g.177211435T>ACA447960702NSD1c.2163T>A (p.Arg721=)
n.612+7143T>A
n.2619T>A
c.2727T>A (p.Arg909=)
n.2433T>A
c.3036T>A (p.Arg1012=)
n.3183T>A
c.2229T>A (p.Arg743=)
c.2616T>A (p.Arg872=)
c.1980T>A (p.Arg660=)
c.-960T>A (n.-960T>A)
5g.177211435T>CCA447960704NSD1c.2163T>C (p.Arg721=)
n.612+7143T>C
n.2619T>C
c.2727T>C (p.Arg909=)
n.2433T>C
c.3036T>C (p.Arg1012=)
n.3183T>C
c.2229T>C (p.Arg743=)
c.2616T>C (p.Arg872=)
c.1980T>C (p.Arg660=)
c.-960T>C (n.-960T>C)
5g.177211435T>GCA447960705NSD1c.2163T>G (p.Arg721=)
n.612+7143T>G
n.2619T>G
c.2727T>G (p.Arg909=)
n.2433T>G
c.3036T>G (p.Arg1012=)
n.3183T>G
c.2229T>G (p.Arg743=)
c.2616T>G (p.Arg872=)
c.1980T>G (p.Arg660=)
c.-960T>G (n.-960T>G)
5g.177211436T>ACA362321692NSD1c.2164T>A (p.Ser722Thr)
n.612+7144T>A
n.2620T>A
c.2728T>A (p.Ser910Thr)
n.2434T>A
c.3037T>A (p.Ser1013Thr)
n.3184T>A
c.2230T>A (p.Ser744Thr)
c.2617T>A (p.Ser873Thr)
c.1981T>A (p.Ser661Thr)
c.-959T>A (n.-959T>A)
5g.177211436T>CCA362321695NSD1c.2164T>C (p.Ser722Pro)
n.612+7144T>C
n.2620T>C
c.2728T>C (p.Ser910Pro)
n.2434T>C
c.3037T>C (p.Ser1013Pro)
n.3184T>C
c.2230T>C (p.Ser744Pro)
c.2617T>C (p.Ser873Pro)
c.1981T>C (p.Ser661Pro)
c.-959T>C (n.-959T>C)
5g.177211436T>GCA362321696NSD1c.2164T>G (p.Ser722Ala)
n.612+7144T>G
n.2620T>G
c.2728T>G (p.Ser910Ala)
n.2434T>G
c.3037T>G (p.Ser1013Ala)
n.3184T>G
c.2230T>G (p.Ser744Ala)
c.2617T>G (p.Ser873Ala)
c.1981T>G (p.Ser661Ala)
c.-959T>G (n.-959T>G)
5g.177211437C>ACA362321699NSD1c.2165C>A (p.Ser722Ter)
n.612+7145C>A
n.2621C>A
c.2729C>A (p.Ser910Ter)
n.2435C>A
c.3038C>A (p.Ser1013Ter)
n.3185C>A
c.2231C>A (p.Ser744Ter)
c.2618C>A (p.Ser873Ter)
c.1982C>A (p.Ser661Ter)
c.-958C>A (n.-958C>A)
5g.177211437C=CA1603477794NSD1c.2165C= (p.Ser722=)
n.612+7145C=
n.2621C=
c.2729C= (p.Ser910=)
n.2435C=
c.3038C= (p.Ser1013=)
n.3185C=
c.2231C= (p.Ser744=)
c.2618C= (p.Ser873=)
c.1982C= (p.Ser661=)
c.-958C= (n.-958C=)
5g.177211437C>GCA362321701NSD1c.2165C>G (p.Ser722Ter)
n.612+7145C>G
n.2621C>G
c.2729C>G (p.Ser910Ter)
n.2435C>G
c.3038C>G (p.Ser1013Ter)
n.3185C>G
c.2231C>G (p.Ser744Ter)
c.2618C>G (p.Ser873Ter)
c.1982C>G (p.Ser661Ter)
c.-958C>G (n.-958C>G)
ClinVar dbSNP
5g.177211437C>TCA132830906NSD1c.2165C>T (p.Ser722Leu)
n.612+7145C>T
n.2621C>T
c.2729C>T (p.Ser910Leu)
n.2435C>T
c.3038C>T (p.Ser1013Leu)
n.3185C>T
c.2231C>T (p.Ser744Leu)
c.2618C>T (p.Ser873Leu)
c.1982C>T (p.Ser661Leu)
c.-958C>T (n.-958C>T)
dbSNP gnomAD v4
5g.177211438A=CA1603477817NSD1c.2166A= (p.Ser722=)
n.612+7146A=
n.2622A=
c.2730A= (p.Ser910=)
n.2436A=
c.3039A= (p.Ser1013=)
n.3186A=
c.2232A= (p.Ser744=)
c.2619A= (p.Ser873=)
c.1983A= (p.Ser661=)
c.-957A= (n.-957A=)
5g.177211438A>CCA447960710NSD1c.2166A>C (p.Ser722=)
n.612+7146A>C
n.2622A>C
c.2730A>C (p.Ser910=)
n.2436A>C
c.3039A>C (p.Ser1013=)
n.3186A>C
c.2232A>C (p.Ser744=)
c.2619A>C (p.Ser873=)
c.1983A>C (p.Ser661=)
c.-957A>C (n.-957A>C)
5g.177211438A>GCA447960711NSD1c.2166A>G (p.Ser722=)
n.612+7146A>G
n.2622A>G
c.2730A>G (p.Ser910=)
n.2436A>G
c.3039A>G (p.Ser1013=)
n.3186A>G
c.2232A>G (p.Ser744=)
c.2619A>G (p.Ser873=)
c.1983A>G (p.Ser661=)
c.-957A>G (n.-957A>G)
dbSNP gnomAD v2 gnomAD v4
5g.177211438A>TCA447960713NSD1c.2166A>T (p.Ser722=)
n.612+7146A>T
n.2622A>T
c.2730A>T (p.Ser910=)
n.2436A>T
c.3039A>T (p.Ser1013=)
n.3186A>T
c.2232A>T (p.Ser744=)
c.2619A>T (p.Ser873=)
c.1983A>T (p.Ser661=)
c.-957A>T (n.-957A>T)
5g.177211439G>ACA362321705NSD1c.2167G>A (p.Asp723Asn)
n.612+7147G>A
n.2623G>A
c.2731G>A (p.Asp911Asn)
n.2437G>A
c.3040G>A (p.Asp1014Asn)
n.3187G>A
c.2233G>A (p.Asp745Asn)
c.2620G>A (p.Asp874Asn)
c.1984G>A (p.Asp662Asn)
c.-956G>A (n.-956G>A)
5g.177211439G>CCA362321707NSD1c.2167G>C (p.Asp723His)
n.612+7147G>C
n.2623G>C
c.2731G>C (p.Asp911His)
n.2437G>C
c.3040G>C (p.Asp1014His)
n.3187G>C
c.2233G>C (p.Asp745His)
c.2620G>C (p.Asp874His)
c.1984G>C (p.Asp662His)
c.-956G>C (n.-956G>C)
5g.177211439G>TCA362321709NSD1c.2167G>T (p.Asp723Tyr)
n.612+7147G>T
n.2623G>T
c.2731G>T (p.Asp911Tyr)
n.2437G>T
c.3040G>T (p.Asp1014Tyr)
n.3187G>T
c.2233G>T (p.Asp745Tyr)
c.2620G>T (p.Asp874Tyr)
c.1984G>T (p.Asp662Tyr)
c.-956G>T (n.-956G>T)
5g.177211440A=CA1603477821NSD1c.2168A= (p.Asp723=)
n.612+7148A=
n.2624A=
c.2732A= (p.Asp911=)
n.2438A=
c.3041A= (p.Asp1014=)
n.3188A=
c.2234A= (p.Asp745=)
c.2621A= (p.Asp874=)
c.1985A= (p.Asp662=)
c.-955A= (n.-955A=)
5g.177211440A>CCA362321713NSD1c.2168A>C (p.Asp723Ala)
n.612+7148A>C
n.2624A>C
c.2732A>C (p.Asp911Ala)
n.2438A>C
c.3041A>C (p.Asp1014Ala)
n.3188A>C
c.2234A>C (p.Asp745Ala)
c.2621A>C (p.Asp874Ala)
c.1985A>C (p.Asp662Ala)
c.-955A>C (n.-955A>C)
5g.177211440A>GCA362321716NSD1c.2168A>G (p.Asp723Gly)
n.612+7148A>G
n.2624A>G
c.2732A>G (p.Asp911Gly)
n.2438A>G
c.3041A>G (p.Asp1014Gly)
n.3188A>G
c.2234A>G (p.Asp745Gly)
c.2621A>G (p.Asp874Gly)
c.1985A>G (p.Asp662Gly)
c.-955A>G (n.-955A>G)
5g.177211440A>TCA132830907NSD1c.2168A>T (p.Asp723Val)
n.612+7148A>T
n.2624A>T
c.2732A>T (p.Asp911Val)
n.2438A>T
c.3041A>T (p.Asp1014Val)
n.3188A>T
c.2234A>T (p.Asp745Val)
c.2621A>T (p.Asp874Val)
c.1985A>T (p.Asp662Val)
c.-955A>T (n.-955A>T)
dbSNP
5g.177211441C>ACA362321719NSD1c.2169C>A (p.Asp723Glu)
n.612+7149C>A
n.2625C>A
c.2733C>A (p.Asp911Glu)
n.2439C>A
c.3042C>A (p.Asp1014Glu)
n.3189C>A
c.2235C>A (p.Asp745Glu)
c.2622C>A (p.Asp874Glu)
c.1986C>A (p.Asp662Glu)
c.-954C>A (n.-954C>A)
dbSNP
5g.177211441C=CA1603477825NSD1c.2169C= (p.Asp723=)
n.612+7149C=
n.2625C=
c.2733C= (p.Asp911=)
n.2439C=
c.3042C= (p.Asp1014=)
n.3189C=
c.2235C= (p.Asp745=)
c.2622C= (p.Asp874=)
c.1986C= (p.Asp662=)
c.-954C= (n.-954C=)
5g.177211441C>GCA362321721NSD1c.2169C>G (p.Asp723Glu)
n.612+7149C>G
n.2625C>G
c.2733C>G (p.Asp911Glu)
n.2439C>G
c.3042C>G (p.Asp1014Glu)
n.3189C>G
c.2235C>G (p.Asp745Glu)
c.2622C>G (p.Asp874Glu)
c.1986C>G (p.Asp662Glu)
c.-954C>G (n.-954C>G)
5g.177211441C>TCA447960723NSD1c.2169C>T (p.Asp723=)
n.612+7149C>T
n.2625C>T
c.2733C>T (p.Asp911=)
n.2439C>T
c.3042C>T (p.Asp1014=)
n.3189C>T
c.2235C>T (p.Asp745=)
c.2622C>T (p.Asp874=)
c.1986C>T (p.Asp662=)
c.-954C>T (n.-954C>T)
dbSNP
5g.177211441_177211443delinsCTGCA1603477824NSD1c.2169_2171delinsCTG (p.Asp723=)
n.612+7149_612+7151delinsCTG
n.2625_2627delinsCTG
c.2733_2735delinsCTG (p.Asp911=)
n.2439_2441delinsCTG
c.3042_3044delinsCTG (p.Asp1014=)
n.3189_3191delinsCTG
c.2235_2237delinsCTG (p.Asp745=)
c.2622_2624delinsCTG (p.Asp874=)
c.1986_1988delinsCTG (p.Asp662=)
c.-954_-952delinsCTG (n.-954_-952delinsCTG)
5g.177211442T>ACA362321724NSD1c.2170T>A (p.Cys724Ser)
n.612+7150T>A
n.2626T>A
c.2734T>A (p.Cys912Ser)
n.2440T>A
c.3043T>A (p.Cys1015Ser)
n.3190T>A
c.2236T>A (p.Cys746Ser)
c.2623T>A (p.Cys875Ser)
c.1987T>A (p.Cys663Ser)
c.-953T>A (n.-953T>A)
5g.177211442T>CCA362321726NSD1c.2170T>C (p.Cys724Arg)
n.612+7150T>C
n.2626T>C
c.2734T>C (p.Cys912Arg)
n.2440T>C
c.3043T>C (p.Cys1015Arg)
n.3190T>C
c.2236T>C (p.Cys746Arg)
c.2623T>C (p.Cys875Arg)
c.1987T>C (p.Cys663Arg)
c.-953T>C (n.-953T>C)
5g.177211442T>GCA362321727NSD1c.2170T>G (p.Cys724Gly)
n.612+7150T>G
n.2626T>G
c.2734T>G (p.Cys912Gly)
n.2440T>G
c.3043T>G (p.Cys1015Gly)
n.3190T>G
c.2236T>G (p.Cys746Gly)
c.2623T>G (p.Cys875Gly)
c.1987T>G (p.Cys663Gly)
c.-953T>G (n.-953T>G)
5g.177211445_177211446delCA294838NSD1c.2173_2174del (p.Val725TyrfsTer2)
n.612+7153_612+7154del
n.2629_2630del
c.2737_2738del (p.Val913TyrfsTer2)
n.2443_2444del
c.3046_3047del (p.Val1016TyrfsTer2)
n.3193_3194del
c.2239_2240del (p.Val747TyrfsTer2)
c.2626_2627del (p.Val876TyrfsTer2)
c.1990_1991del (p.Val664TyrfsTer2)
c.-950_-949del (n.-950_-949del)
ClinVar dbSNP
5g.177211443G>ACA362321729NSD1c.2171G>A (p.Cys724Tyr)
n.612+7151G>A
n.2627G>A
c.2735G>A (p.Cys912Tyr)
n.2441G>A
c.3044G>A (p.Cys1015Tyr)
n.3191G>A
c.2237G>A (p.Cys746Tyr)
c.2624G>A (p.Cys875Tyr)
c.1988G>A (p.Cys663Tyr)
c.-952G>A (n.-952G>A)
5g.177211443G>CCA362321732NSD1c.2171G>C (p.Cys724Ser)
n.612+7151G>C
n.2627G>C
c.2735G>C (p.Cys912Ser)
n.2441G>C
c.3044G>C (p.Cys1015Ser)
n.3191G>C
c.2237G>C (p.Cys746Ser)
c.2624G>C (p.Cys875Ser)
c.1988G>C (p.Cys663Ser)
c.-952G>C (n.-952G>C)
dbSNP
5g.177211443G>TCA362321734NSD1c.2171G>T (p.Cys724Phe)
n.612+7151G>T
n.2627G>T
c.2735G>T (p.Cys912Phe)
n.2441G>T
c.3044G>T (p.Cys1015Phe)
n.3191G>T
c.2237G>T (p.Cys746Phe)
c.2624G>T (p.Cys875Phe)
c.1988G>T (p.Cys663Phe)
c.-952G>T (n.-952G>T)
5g.177211444T>ACA362321735NSD1c.2172T>A (p.Cys724Ter)
n.612+7152T>A
n.2628T>A
c.2736T>A (p.Cys912Ter)
n.2442T>A
c.3045T>A (p.Cys1015Ter)
n.3192T>A
c.2238T>A (p.Cys746Ter)
c.2625T>A (p.Cys875Ter)
c.1989T>A (p.Cys663Ter)
c.-951T>A (n.-951T>A)
5g.177211444T>CCA447960740NSD1c.2172T>C (p.Cys724=)
n.612+7152T>C
n.2628T>C
c.2736T>C (p.Cys912=)
n.2442T>C
c.3045T>C (p.Cys1015=)
n.3192T>C
c.2238T>C (p.Cys746=)
c.2625T>C (p.Cys875=)
c.1989T>C (p.Cys663=)
c.-951T>C (n.-951T>C)
5g.177211444T>GCA362321736NSD1c.2172T>G (p.Cys724Trp)
n.612+7152T>G
n.2628T>G
c.2736T>G (p.Cys912Trp)
n.2442T>G
c.3045T>G (p.Cys1015Trp)
n.3192T>G
c.2238T>G (p.Cys746Trp)
c.2625T>G (p.Cys875Trp)
c.1989T>G (p.Cys663Trp)
c.-951T>G (n.-951T>G)
5g.177211445G>ACA362321739NSD1c.2173G>A (p.Val725Ile)
n.612+7153G>A
n.2629G>A
c.2737G>A (p.Val913Ile)
n.2443G>A
c.3046G>A (p.Val1016Ile)
n.3193G>A
c.2239G>A (p.Val747Ile)
c.2626G>A (p.Val876Ile)
c.1990G>A (p.Val664Ile)
c.-950G>A (n.-950G>A)
5g.177211445G>CCA362321738NSD1c.2173G>C (p.Val725Leu)
n.612+7153G>C
n.2629G>C
c.2737G>C (p.Val913Leu)
n.2443G>C
c.3046G>C (p.Val1016Leu)
n.3193G>C
c.2239G>C (p.Val747Leu)
c.2626G>C (p.Val876Leu)
c.1990G>C (p.Val664Leu)
c.-950G>C (n.-950G>C)
5g.177211445G>TCA362321737NSD1c.2173G>T (p.Val725Phe)
n.612+7153G>T
n.2629G>T
c.2737G>T (p.Val913Phe)
n.2443G>T
c.3046G>T (p.Val1016Phe)
n.3193G>T
c.2239G>T (p.Val747Phe)
c.2626G>T (p.Val876Phe)
c.1990G>T (p.Val664Phe)
c.-950G>T (n.-950G>T)
5g.177211446T>ACA362321740NSD1c.2174T>A (p.Val725Asp)
n.612+7154T>A
n.2630T>A
c.2738T>A (p.Val913Asp)
n.2444T>A
c.3047T>A (p.Val1016Asp)
n.3194T>A
c.2240T>A (p.Val747Asp)
c.2627T>A (p.Val876Asp)
c.1991T>A (p.Val664Asp)
c.-949T>A (n.-949T>A)
5g.177211446T>CCA362321741NSD1c.2174T>C (p.Val725Ala)
n.612+7154T>C
n.2630T>C
c.2738T>C (p.Val913Ala)
n.2444T>C
c.3047T>C (p.Val1016Ala)
n.3194T>C
c.2240T>C (p.Val747Ala)
c.2627T>C (p.Val876Ala)
c.1991T>C (p.Val664Ala)
c.-949T>C (n.-949T>C)
5g.177211446T>GCA362321742NSD1c.2174T>G (p.Val725Gly)
n.612+7154T>G
n.2630T>G
c.2738T>G (p.Val913Gly)
n.2444T>G
c.3047T>G (p.Val1016Gly)
n.3194T>G
c.2240T>G (p.Val747Gly)
c.2627T>G (p.Val876Gly)
c.1991T>G (p.Val664Gly)
c.-949T>G (n.-949T>G)
5g.177211447delCA2711100084NSD1c.2175del (p.Thr726LeufsTer23)
n.612+7155del
n.2631del
c.2739del (p.Thr914LeufsTer23)
n.2445del
c.3048del (p.Thr1017LeufsTer23)
n.3195del
c.2241del (p.Thr748LeufsTer23)
c.2628del (p.Thr877LeufsTer23)
c.1992del (p.Thr665LeufsTer23)
c.-948del (n.-948del)
dbSNP
5g.177211447T>ACA447960741NSD1c.2175T>A (p.Val725=)
n.612+7155T>A
n.2631T>A
c.2739T>A (p.Val913=)
n.2445T>A
c.3048T>A (p.Val1016=)
n.3195T>A
c.2241T>A (p.Val747=)
c.2628T>A (p.Val876=)
c.1992T>A (p.Val664=)
c.-948T>A (n.-948T>A)
dbSNP
5g.177211447T>CCA447960743NSD1c.2175T>C (p.Val725=)
n.612+7155T>C
n.2631T>C
c.2739T>C (p.Val913=)
n.2445T>C
c.3048T>C (p.Val1016=)
n.3195T>C
c.2241T>C (p.Val747=)
c.2628T>C (p.Val876=)
c.1992T>C (p.Val664=)
c.-948T>C (n.-948T>C)
5g.177211447T>GCA447960742NSD1c.2175T>G (p.Val725=)
n.612+7155T>G
n.2631T>G
c.2739T>G (p.Val913=)
n.2445T>G
c.3048T>G (p.Val1016=)
n.3195T>G
c.2241T>G (p.Val747=)
c.2628T>G (p.Val876=)
c.1992T>G (p.Val664=)
c.-948T>G (n.-948T>G)
5g.177211447T=CA1603477834NSD1c.2175T= (p.Val725=)
n.612+7155T=
n.2631T=
c.2739T= (p.Val913=)
n.2445T=
c.3048T= (p.Val1016=)
n.3195T=
c.2241T= (p.Val747=)
c.2628T= (p.Val876=)
c.1992T= (p.Val664=)
c.-948T= (n.-948T=)
5g.177211448A=CA1603477841NSD1c.2176A= (p.Thr726=)
n.612+7156A=
n.2632A=
c.2740A= (p.Thr914=)
n.2446A=
c.3049A= (p.Thr1017=)
n.3196A=
c.2242A= (p.Thr748=)
c.2629A= (p.Thr877=)
c.1993A= (p.Thr665=)
c.-947A= (n.-947A=)
5g.177211448A>CCA362321743NSD1c.2176A>C (p.Thr726Pro)
n.612+7156A>C
n.2632A>C
c.2740A>C (p.Thr914Pro)
n.2446A>C
c.3049A>C (p.Thr1017Pro)
n.3196A>C
c.2242A>C (p.Thr748Pro)
c.2629A>C (p.Thr877Pro)
c.1993A>C (p.Thr665Pro)
c.-947A>C (n.-947A>C)
5g.177211448A>GCA362321744NSD1c.2176A>G (p.Thr726Ala)
n.612+7156A>G
n.2632A>G
c.2740A>G (p.Thr914Ala)
n.2446A>G
c.3049A>G (p.Thr1017Ala)
n.3196A>G
c.2242A>G (p.Thr748Ala)
c.2629A>G (p.Thr877Ala)
c.1993A>G (p.Thr665Ala)
c.-947A>G (n.-947A>G)
5g.177211448A>TCA362321745NSD1c.2176A>T (p.Thr726Ser)
n.612+7156A>T
n.2632A>T
c.2740A>T (p.Thr914Ser)
n.2446A>T
c.3049A>T (p.Thr1017Ser)
n.3196A>T
c.2242A>T (p.Thr748Ser)
c.2629A>T (p.Thr877Ser)
c.1993A>T (p.Thr665Ser)
c.-947A>T (n.-947A>T)
dbSNP gnomAD v2 gnomAD v4
5g.177211449C>ACA362321748NSD1c.2177C>A (p.Thr726Asn)
n.612+7157C>A
n.2633C>A
c.2741C>A (p.Thr914Asn)
n.2447C>A
c.3050C>A (p.Thr1017Asn)
n.3197C>A
c.2243C>A (p.Thr748Asn)
c.2630C>A (p.Thr877Asn)
c.1994C>A (p.Thr665Asn)
c.-946C>A (n.-946C>A)
5g.177211449C=CA1603477846NSD1c.2177C= (p.Thr726=)
n.612+7157C=
n.2633C=
c.2741C= (p.Thr914=)
n.2447C=
c.3050C= (p.Thr1017=)
n.3197C=
c.2243C= (p.Thr748=)
c.2630C= (p.Thr877=)
c.1994C= (p.Thr665=)
c.-946C= (n.-946C=)
5g.177211449C>GCA362321750NSD1c.2177C>G (p.Thr726Ser)
n.612+7157C>G
n.2633C>G
c.2741C>G (p.Thr914Ser)
n.2447C>G
c.3050C>G (p.Thr1017Ser)
n.3197C>G
c.2243C>G (p.Thr748Ser)
c.2630C>G (p.Thr877Ser)
c.1994C>G (p.Thr665Ser)
c.-946C>G (n.-946C>G)
dbSNP
5g.177211449C>TCA362321752NSD1c.2177C>T (p.Thr726Ile)
n.612+7157C>T
n.2633C>T
c.2741C>T (p.Thr914Ile)
n.2447C>T
c.3050C>T (p.Thr1017Ile)
n.3197C>T
c.2243C>T (p.Thr748Ile)
c.2630C>T (p.Thr877Ile)
c.1994C>T (p.Thr665Ile)
c.-946C>T (n.-946C>T)
dbSNP gnomAD v3 gnomAD v4
5g.177211450T>ACA447960750NSD1c.2178T>A (p.Thr726=)
n.612+7158T>A
n.2634T>A
c.2742T>A (p.Thr914=)
n.2448T>A
c.3051T>A (p.Thr1017=)
n.3198T>A
c.2244T>A (p.Thr748=)
c.2631T>A (p.Thr877=)
c.1995T>A (p.Thr665=)
c.-945T>A (n.-945T>A)
5g.177211450T>CCA447960751NSD1c.2178T>C (p.Thr726=)
n.612+7158T>C
n.2634T>C
c.2742T>C (p.Thr914=)
n.2448T>C
c.3051T>C (p.Thr1017=)
n.3198T>C
c.2244T>C (p.Thr748=)
c.2631T>C (p.Thr877=)
c.1995T>C (p.Thr665=)
c.-945T>C (n.-945T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211450T>GCA447960753NSD1c.2178T>G (p.Thr726=)
n.612+7158T>G
n.2634T>G
c.2742T>G (p.Thr914=)
n.2448T>G
c.3051T>G (p.Thr1017=)
n.3198T>G
c.2244T>G (p.Thr748=)
c.2631T>G (p.Thr877=)
c.1995T>G (p.Thr665=)
c.-945T>G (n.-945T>G)
5g.177211450T=CA1603477858NSD1c.2178T= (p.Thr726=)
n.612+7158T=
n.2634T=
c.2742T= (p.Thr914=)
n.2448T=
c.3051T= (p.Thr1017=)
n.3198T=
c.2244T= (p.Thr748=)
c.2631T= (p.Thr877=)
c.1995T= (p.Thr665=)
c.-945T= (n.-945T=)
5g.177211451A>CCA447960756NSD1c.2179A>C (p.Arg727=)
n.612+7159A>C
n.2635A>C
c.2743A>C (p.Arg915=)
n.2449A>C
c.3052A>C (p.Arg1018=)
n.3199A>C
c.2245A>C (p.Arg749=)
c.2632A>C (p.Arg878=)
c.1996A>C (p.Arg666=)
c.-944A>C (n.-944A>C)
5g.177211451A>GCA362321755NSD1c.2179A>G (p.Arg727Gly)
n.612+7159A>G
n.2635A>G
c.2743A>G (p.Arg915Gly)
n.2449A>G
c.3052A>G (p.Arg1018Gly)
n.3199A>G
c.2245A>G (p.Arg749Gly)
c.2632A>G (p.Arg878Gly)
c.1996A>G (p.Arg666Gly)
c.-944A>G (n.-944A>G)
5g.177211451A>TCA362321757NSD1c.2179A>T (p.Arg727Trp)
n.612+7159A>T
n.2635A>T
c.2743A>T (p.Arg915Trp)
n.2449A>T
c.3052A>T (p.Arg1018Trp)
n.3199A>T
c.2245A>T (p.Arg749Trp)
c.2632A>T (p.Arg878Trp)
c.1996A>T (p.Arg666Trp)
c.-944A>T (n.-944A>T)
5g.177211452G>ACA362321762NSD1c.2180G>A (p.Arg727Lys)
n.612+7160G>A
n.2636G>A
c.2744G>A (p.Arg915Lys)
n.2450G>A
c.3053G>A (p.Arg1018Lys)
n.3200G>A
c.2246G>A (p.Arg749Lys)
c.2633G>A (p.Arg878Lys)
c.1997G>A (p.Arg666Lys)
c.-943G>A (n.-943G>A)
5g.177211452G>CCA362321764NSD1c.2180G>C (p.Arg727Thr)
n.612+7160G>C
n.2636G>C
c.2744G>C (p.Arg915Thr)
n.2450G>C
c.3053G>C (p.Arg1018Thr)
n.3200G>C
c.2246G>C (p.Arg749Thr)
c.2633G>C (p.Arg878Thr)
c.1997G>C (p.Arg666Thr)
c.-943G>C (n.-943G>C)
5g.177211452G>TCA362321760NSD1c.2180G>T (p.Arg727Met)
n.612+7160G>T
n.2636G>T
c.2744G>T (p.Arg915Met)
n.2450G>T
c.3053G>T (p.Arg1018Met)
n.3200G>T
c.2246G>T (p.Arg749Met)
c.2633G>T (p.Arg878Met)
c.1997G>T (p.Arg666Met)
c.-943G>T (n.-943G>T)
5g.177211453G>ACA447960760NSD1c.2181G>A (p.Arg727=)
n.612+7161G>A
n.2637G>A
c.2745G>A (p.Arg915=)
n.2451G>A
c.3054G>A (p.Arg1018=)
n.3201G>A
c.2247G>A (p.Arg749=)
c.2634G>A (p.Arg878=)
c.1998G>A (p.Arg666=)
c.-942G>A (n.-942G>A)
5g.177211453G>CCA362321769NSD1c.2181G>C (p.Arg727Ser)
n.612+7161G>C
n.2637G>C
c.2745G>C (p.Arg915Ser)
n.2451G>C
c.3054G>C (p.Arg1018Ser)
n.3201G>C
c.2247G>C (p.Arg749Ser)
c.2634G>C (p.Arg878Ser)
c.1998G>C (p.Arg666Ser)
c.-942G>C (n.-942G>C)
gnomAD v4
5g.177211453G>TCA362321767NSD1c.2181G>T (p.Arg727Ser)
n.612+7161G>T
n.2637G>T
c.2745G>T (p.Arg915Ser)
n.2451G>T
c.3054G>T (p.Arg1018Ser)
n.3201G>T
c.2247G>T (p.Arg749Ser)
c.2634G>T (p.Arg878Ser)
c.1998G>T (p.Arg666Ser)
c.-942G>T (n.-942G>T)
5g.177211454C>ACA362321771NSD1c.2182C>A (p.Arg728Ser)
n.612+7162C>A
n.2638C>A
c.2746C>A (p.Arg916Ser)
n.2452C>A
c.3055C>A (p.Arg1019Ser)
n.3202C>A
c.2248C>A (p.Arg750Ser)
c.2635C>A (p.Arg879Ser)
c.1999C>A (p.Arg667Ser)
c.-941C>A (n.-941C>A)
dbSNP
5g.177211454C=CA1603477865NSD1c.2182C= (p.Arg728=)
n.612+7162C=
n.2638C=
c.2746C= (p.Arg916=)
n.2452C=
c.3055C= (p.Arg1019=)
n.3202C=
c.2248C= (p.Arg750=)
c.2635C= (p.Arg879=)
c.1999C= (p.Arg667=)
c.-941C= (n.-941C=)
5g.177211454C>GCA362321773NSD1c.2182C>G (p.Arg728Gly)
n.612+7162C>G
n.2638C>G
c.2746C>G (p.Arg916Gly)
n.2452C>G
c.3055C>G (p.Arg1019Gly)
n.3202C>G
c.2248C>G (p.Arg750Gly)
c.2635C>G (p.Arg879Gly)
c.1999C>G (p.Arg667Gly)
c.-941C>G (n.-941C>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.177211454C>TCA362321775NSD1c.2182C>T (p.Arg728Cys)
n.612+7162C>T
n.2638C>T
c.2746C>T (p.Arg916Cys)
n.2452C>T
c.3055C>T (p.Arg1019Cys)
n.3202C>T
c.2248C>T (p.Arg750Cys)
c.2635C>T (p.Arg879Cys)
c.1999C>T (p.Arg667Cys)
c.-941C>T (n.-941C>T)
dbSNP gnomAD v3 gnomAD v4
5g.177211455G>ACA3577367NSD1c.2183G>A (p.Arg728His)
n.612+7163G>A
n.2639G>A
c.2747G>A (p.Arg916His)
n.2453G>A
c.3056G>A (p.Arg1019His)
n.3203G>A
c.2249G>A (p.Arg750His)
c.2636G>A (p.Arg879His)
c.2000G>A (p.Arg667His)
c.-940G>A (n.-940G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211455G>CCA362321779NSD1c.2183G>C (p.Arg728Pro)
n.612+7163G>C
n.2639G>C
c.2747G>C (p.Arg916Pro)
n.2453G>C
c.3056G>C (p.Arg1019Pro)
n.3203G>C
c.2249G>C (p.Arg750Pro)
c.2636G>C (p.Arg879Pro)
c.2000G>C (p.Arg667Pro)
c.-940G>C (n.-940G>C)
ClinVar
5g.177211455G=CA1603477869NSD1c.2183G= (p.Arg728=)
n.612+7163G=
n.2639G=
c.2747G= (p.Arg916=)
n.2453G=
c.3056G= (p.Arg1019=)
n.3203G=
c.2249G= (p.Arg750=)
c.2636G= (p.Arg879=)
c.2000G= (p.Arg667=)
c.-940G= (n.-940G=)
5g.177211455G>TCA362321782NSD1c.2183G>T (p.Arg728Leu)
n.612+7163G>T
n.2639G>T
c.2747G>T (p.Arg916Leu)
n.2453G>T
c.3056G>T (p.Arg1019Leu)
n.3203G>T
c.2249G>T (p.Arg750Leu)
c.2636G>T (p.Arg879Leu)
c.2000G>T (p.Arg667Leu)
c.-940G>T (n.-940G>T)
5g.177211456C>ACA447960767NSD1c.2184C>A (p.Arg728=)
n.612+7164C>A
n.2640C>A
c.2748C>A (p.Arg916=)
n.2454C>A
c.3057C>A (p.Arg1019=)
n.3204C>A
c.2250C>A (p.Arg750=)
c.2637C>A (p.Arg879=)
c.2001C>A (p.Arg667=)
c.-939C>A (n.-939C>A)
gnomAD v4
5g.177211456C=CA1603477879NSD1c.2184C= (p.Arg728=)
n.612+7164C=
n.2640C=
c.2748C= (p.Arg916=)
n.2454C=
c.3057C= (p.Arg1019=)
n.3204C=
c.2250C= (p.Arg750=)
c.2637C= (p.Arg879=)
c.2001C= (p.Arg667=)
c.-939C= (n.-939C=)
5g.177211456C>GCA447960768NSD1c.2184C>G (p.Arg728=)
n.612+7164C>G
n.2640C>G
c.2748C>G (p.Arg916=)
n.2454C>G
c.3057C>G (p.Arg1019=)
n.3204C>G
c.2250C>G (p.Arg750=)
c.2637C>G (p.Arg879=)
c.2001C>G (p.Arg667=)
c.-939C>G (n.-939C>G)
5g.177211456C>TCA447960769NSD1c.2184C>T (p.Arg728=)
n.612+7164C>T
n.2640C>T
c.2748C>T (p.Arg916=)
n.2454C>T
c.3057C>T (p.Arg1019=)
n.3204C>T
c.2250C>T (p.Arg750=)
c.2637C>T (p.Arg879=)
c.2001C>T (p.Arg667=)
c.-939C>T (n.-939C>T)
dbSNP
5g.177211457A>CCA362321784NSD1c.2185A>C (p.Asn729His)
n.612+7165A>C
n.2641A>C
c.2749A>C (p.Asn917His)
n.2455A>C
c.3058A>C (p.Asn1020His)
n.3205A>C
c.2251A>C (p.Asn751His)
c.2638A>C (p.Asn880His)
c.2002A>C (p.Asn668His)
c.-938A>C (n.-938A>C)
5g.177211457A>GCA362321786NSD1c.2185A>G (p.Asn729Asp)
n.612+7165A>G
n.2641A>G
c.2749A>G (p.Asn917Asp)
n.2455A>G
c.3058A>G (p.Asn1020Asp)
n.3205A>G
c.2251A>G (p.Asn751Asp)
c.2638A>G (p.Asn880Asp)
c.2002A>G (p.Asn668Asp)
c.-938A>G (n.-938A>G)
COSMIC COSMIC
5g.177211457A>TCA362321788NSD1c.2185A>T (p.Asn729Tyr)
n.612+7165A>T
n.2641A>T
c.2749A>T (p.Asn917Tyr)
n.2455A>T
c.3058A>T (p.Asn1020Tyr)
n.3205A>T
c.2251A>T (p.Asn751Tyr)
c.2638A>T (p.Asn880Tyr)
c.2002A>T (p.Asn668Tyr)
c.-938A>T (n.-938A>T)
5g.177211458A=CA1603477881NSD1c.2186A= (p.Asn729=)
n.612+7166A=
n.2642A=
c.2750A= (p.Asn917=)
n.2456A=
c.3059A= (p.Asn1020=)
n.3206A=
c.2252A= (p.Asn751=)
c.2639A= (p.Asn880=)
c.2003A= (p.Asn668=)
c.-937A= (n.-937A=)
5g.177211458A>CCA362321792NSD1c.2186A>C (p.Asn729Thr)
n.612+7166A>C
n.2642A>C
c.2750A>C (p.Asn917Thr)
n.2456A>C
c.3059A>C (p.Asn1020Thr)
n.3206A>C
c.2252A>C (p.Asn751Thr)
c.2639A>C (p.Asn880Thr)
c.2003A>C (p.Asn668Thr)
c.-937A>C (n.-937A>C)
5g.177211458A>GCA3577368NSD1c.2186A>G (p.Asn729Ser)
n.612+7166A>G
n.2642A>G
c.2750A>G (p.Asn917Ser)
n.2456A>G
c.3059A>G (p.Asn1020Ser)
n.3206A>G
c.2252A>G (p.Asn751Ser)
c.2639A>G (p.Asn880Ser)
c.2003A>G (p.Asn668Ser)
c.-937A>G (n.-937A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211458A>TCA362321795NSD1c.2186A>T (p.Asn729Ile)
n.612+7166A>T
n.2642A>T
c.2750A>T (p.Asn917Ile)
n.2456A>T
c.3059A>T (p.Asn1020Ile)
n.3206A>T
c.2252A>T (p.Asn751Ile)
c.2639A>T (p.Asn880Ile)
c.2003A>T (p.Asn668Ile)
c.-937A>T (n.-937A>T)
dbSNP
5g.177211459C>ACA362321798NSD1c.2187C>A (p.Asn729Lys)
n.612+7167C>A
n.2643C>A
c.2751C>A (p.Asn917Lys)
n.2457C>A
c.3060C>A (p.Asn1020Lys)
n.3207C>A
c.2253C>A (p.Asn751Lys)
c.2640C>A (p.Asn880Lys)
c.2004C>A (p.Asn668Lys)
c.-936C>A (n.-936C>A)
gnomAD v4
5g.177211459C>GCA362321800NSD1c.2187C>G (p.Asn729Lys)
n.612+7167C>G
n.2643C>G
c.2751C>G (p.Asn917Lys)
n.2457C>G
c.3060C>G (p.Asn1020Lys)
n.3207C>G
c.2253C>G (p.Asn751Lys)
c.2640C>G (p.Asn880Lys)
c.2004C>G (p.Asn668Lys)
c.-936C>G (n.-936C>G)
dbSNP
5g.177211459C>TCA447960776NSD1c.2187C>T (p.Asn729=)
n.612+7167C>T
n.2643C>T
c.2751C>T (p.Asn917=)
n.2457C>T
c.3060C>T (p.Asn1020=)
n.3207C>T
c.2253C>T (p.Asn751=)
c.2640C>T (p.Asn880=)
c.2004C>T (p.Asn668=)
c.-936C>T (n.-936C>T)
5g.177211460T>ACA362321803NSD1c.2188T>A (p.Cys730Ser)
n.612+7168T>A
n.2644T>A
c.2752T>A (p.Cys918Ser)
n.2458T>A
c.3061T>A (p.Cys1021Ser)
n.3208T>A
c.2254T>A (p.Cys752Ser)
c.2641T>A (p.Cys881Ser)
c.2005T>A (p.Cys669Ser)
c.-935T>A (n.-935T>A)
5g.177211460T>CCA362321804NSD1c.2188T>C (p.Cys730Arg)
n.612+7168T>C
n.2644T>C
c.2752T>C (p.Cys918Arg)
n.2458T>C
c.3061T>C (p.Cys1021Arg)
n.3208T>C
c.2254T>C (p.Cys752Arg)
c.2641T>C (p.Cys881Arg)
c.2005T>C (p.Cys669Arg)
c.-935T>C (n.-935T>C)
5g.177211460T>GCA362321806NSD1c.2188T>G (p.Cys730Gly)
n.612+7168T>G
n.2644T>G
c.2752T>G (p.Cys918Gly)
n.2458T>G
c.3061T>G (p.Cys1021Gly)
n.3208T>G
c.2254T>G (p.Cys752Gly)
c.2641T>G (p.Cys881Gly)
c.2005T>G (p.Cys669Gly)
c.-935T>G (n.-935T>G)
5g.177211462_177211463delCA2580614804NSD1c.2190_2191del (p.Cys730TrpfsTer25)
n.612+7170_612+7171del
n.2646_2647del
c.2754_2755del (p.Cys918TrpfsTer25)
n.2460_2461del
c.3063_3064del (p.Cys1021TrpfsTer25)
n.3210_3211del
c.2256_2257del (p.Cys752TrpfsTer25)
c.2643_2644del (p.Cys881TrpfsTer25)
c.2007_2008del (p.Cys669TrpfsTer25)
c.-933_-932del (n.-933_-932del)
ClinVar
5g.177211461delCA2695202824NSD1c.2189del (p.Cys730LeufsTer19)
n.612+7169del
n.2645del
c.2753del (p.Cys918LeufsTer19)
n.2459del
c.3062del (p.Cys1021LeufsTer19)
n.3209del
c.2255del (p.Cys752LeufsTer19)
c.2642del (p.Cys881LeufsTer19)
c.2006del (p.Cys669LeufsTer19)
c.-934del (n.-934del)
5g.177211461G>ACA362321809NSD1c.2189G>A (p.Cys730Tyr)
n.612+7169G>A
n.2645G>A
c.2753G>A (p.Cys918Tyr)
n.2459G>A
c.3062G>A (p.Cys1021Tyr)
n.3209G>A
c.2255G>A (p.Cys752Tyr)
c.2642G>A (p.Cys881Tyr)
c.2006G>A (p.Cys669Tyr)
c.-934G>A (n.-934G>A)
dbSNP
5g.177211461G>CCA362321811NSD1c.2189G>C (p.Cys730Ser)
n.612+7169G>C
n.2645G>C
c.2753G>C (p.Cys918Ser)
n.2459G>C
c.3062G>C (p.Cys1021Ser)
n.3209G>C
c.2255G>C (p.Cys752Ser)
c.2642G>C (p.Cys881Ser)
c.2006G>C (p.Cys669Ser)
c.-934G>C (n.-934G>C)
5g.177211461G>TCA362321813NSD1c.2189G>T (p.Cys730Phe)
n.612+7169G>T
n.2645G>T
c.2753G>T (p.Cys918Phe)
n.2459G>T
c.3062G>T (p.Cys1021Phe)
n.3209G>T
c.2255G>T (p.Cys752Phe)
c.2642G>T (p.Cys881Phe)
c.2006G>T (p.Cys669Phe)
c.-934G>T (n.-934G>T)
5g.177211462T>ACA362321816NSD1c.2190T>A (p.Cys730Ter)
n.612+7170T>A
n.2646T>A
c.2754T>A (p.Cys918Ter)
n.2460T>A
c.3063T>A (p.Cys1021Ter)
n.3210T>A
c.2256T>A (p.Cys752Ter)
c.2643T>A (p.Cys881Ter)
c.2007T>A (p.Cys669Ter)
c.-933T>A (n.-933T>A)
5g.177211462T>CCA447960786NSD1c.2190T>C (p.Cys730=)
n.612+7170T>C
n.2646T>C
c.2754T>C (p.Cys918=)
n.2460T>C
c.3063T>C (p.Cys1021=)
n.3210T>C
c.2256T>C (p.Cys752=)
c.2643T>C (p.Cys881=)
c.2007T>C (p.Cys669=)
c.-933T>C (n.-933T>C)
5g.177211462T>GCA362321818NSD1c.2190T>G (p.Cys730Trp)
n.612+7170T>G
n.2646T>G
c.2754T>G (p.Cys918Trp)
n.2460T>G
c.3063T>G (p.Cys1021Trp)
n.3210T>G
c.2256T>G (p.Cys752Trp)
c.2643T>G (p.Cys881Trp)
c.2007T>G (p.Cys669Trp)
c.-933T>G (n.-933T>G)
5g.177211463G>ACA362321821NSD1c.2191G>A (p.Gly731Arg)
n.612+7171G>A
n.2647G>A
c.2755G>A (p.Gly919Arg)
n.2461G>A
c.3064G>A (p.Gly1022Arg)
n.3211G>A
c.2257G>A (p.Gly753Arg)
c.2644G>A (p.Gly882Arg)
c.2008G>A (p.Gly670Arg)
c.-932G>A (n.-932G>A)
5g.177211463G>CCA362321822NSD1c.2191G>C (p.Gly731Arg)
n.612+7171G>C
n.2647G>C
c.2755G>C (p.Gly919Arg)
n.2461G>C
c.3064G>C (p.Gly1022Arg)
n.3211G>C
c.2257G>C (p.Gly753Arg)
c.2644G>C (p.Gly882Arg)
c.2008G>C (p.Gly670Arg)
c.-932G>C (n.-932G>C)
5g.177211463G>TCA362321824NSD1c.2191G>T (p.Gly731Ter)
n.612+7171G>T
n.2647G>T
c.2755G>T (p.Gly919Ter)
n.2461G>T
c.3064G>T (p.Gly1022Ter)
n.3211G>T
c.2257G>T (p.Gly753Ter)
c.2644G>T (p.Gly882Ter)
c.2008G>T (p.Gly670Ter)
c.-932G>T (n.-932G>T)
5g.177211464G>ACA362321830NSD1c.2192G>A (p.Gly731Glu)
n.612+7172G>A
n.2648G>A
c.2756G>A (p.Gly919Glu)
n.2462G>A
c.3065G>A (p.Gly1022Glu)
n.3212G>A
c.2258G>A (p.Gly753Glu)
c.2645G>A (p.Gly882Glu)
c.2009G>A (p.Gly670Glu)
c.-931G>A (n.-931G>A)
dbSNP
5g.177211464G>CCA362321833NSD1c.2192G>C (p.Gly731Ala)
n.612+7172G>C
n.2648G>C
c.2756G>C (p.Gly919Ala)
n.2462G>C
c.3065G>C (p.Gly1022Ala)
n.3212G>C
c.2258G>C (p.Gly753Ala)
c.2645G>C (p.Gly882Ala)
c.2009G>C (p.Gly670Ala)
c.-931G>C (n.-931G>C)
5g.177211464G>TCA362321828NSD1c.2192G>T (p.Gly731Val)
n.612+7172G>T
n.2648G>T
c.2756G>T (p.Gly919Val)
n.2462G>T
c.3065G>T (p.Gly1022Val)
n.3212G>T
c.2258G>T (p.Gly753Val)
c.2645G>T (p.Gly882Val)
c.2009G>T (p.Gly670Val)
c.-931G>T (n.-931G>T)
5g.177211465A>CCA447960792NSD1c.2193A>C (p.Gly731=)
n.612+7173A>C
n.2649A>C
c.2757A>C (p.Gly919=)
n.2463A>C
c.3066A>C (p.Gly1022=)
n.3213A>C
c.2259A>C (p.Gly753=)
c.2646A>C (p.Gly882=)
c.2010A>C (p.Gly670=)
c.-930A>C (n.-930A>C)
5g.177211465A>GCA447960795NSD1c.2193A>G (p.Gly731=)
n.612+7173A>G
n.2649A>G
c.2757A>G (p.Gly919=)
n.2463A>G
c.3066A>G (p.Gly1022=)
n.3213A>G
c.2259A>G (p.Gly753=)
c.2646A>G (p.Gly882=)
c.2010A>G (p.Gly670=)
c.-930A>G (n.-930A>G)
5g.177211465A>TCA447960797NSD1c.2193A>T (p.Gly731=)
n.612+7173A>T
n.2649A>T
c.2757A>T (p.Gly919=)
n.2463A>T
c.3066A>T (p.Gly1022=)
n.3213A>T
c.2259A>T (p.Gly753=)
c.2646A>T (p.Gly882=)
c.2010A>T (p.Gly670=)
c.-930A>T (n.-930A>T)
5g.177211466C>ACA447960798NSD1c.2194C>A (p.Arg732=)
n.612+7174C>A
n.2650C>A
c.2758C>A (p.Arg920=)
n.2464C>A
c.3067C>A (p.Arg1023=)
n.3214C>A
c.2260C>A (p.Arg754=)
c.2647C>A (p.Arg883=)
c.2011C>A (p.Arg671=)
c.-929C>A (n.-929C>A)
dbSNP COSMIC COSMIC
5g.177211466C=CA1603477895NSD1c.2194C= (p.Arg732=)
n.612+7174C=
n.2650C=
c.2758C= (p.Arg920=)
n.2464C=
c.3067C= (p.Arg1023=)
n.3214C=
c.2260C= (p.Arg754=)
c.2647C= (p.Arg883=)
c.2011C= (p.Arg671=)
c.-929C= (n.-929C=)
5g.177211466C>GCA362321836NSD1c.2194C>G (p.Arg732Gly)
n.612+7174C>G
n.2650C>G
c.2758C>G (p.Arg920Gly)
n.2464C>G
c.3067C>G (p.Arg1023Gly)
n.3214C>G
c.2260C>G (p.Arg754Gly)
c.2647C>G (p.Arg883Gly)
c.2011C>G (p.Arg671Gly)
c.-929C>G (n.-929C>G)
5g.177211466C>TCA294839NSD1c.2194C>T (p.Arg732Ter)
n.612+7174C>T
n.2650C>T
c.2758C>T (p.Arg920Ter)
n.2464C>T
c.3067C>T (p.Arg1023Ter)
n.3214C>T
c.2260C>T (p.Arg754Ter)
c.2647C>T (p.Arg883Ter)
c.2011C>T (p.Arg671Ter)
c.-929C>T (n.-929C>T)
ClinVar dbSNP
5g.177211467G>ACA3577369NSD1c.2195G>A (p.Arg732Gln)
n.612+7175G>A
n.2651G>A
c.2759G>A (p.Arg920Gln)
n.2465G>A
c.3068G>A (p.Arg1023Gln)
n.3215G>A
c.2261G>A (p.Arg754Gln)
c.2648G>A (p.Arg883Gln)
c.2012G>A (p.Arg671Gln)
c.-928G>A (n.-928G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211467G>CCA362321842NSD1c.2195G>C (p.Arg732Pro)
n.612+7175G>C
n.2651G>C
c.2759G>C (p.Arg920Pro)
n.2465G>C
c.3068G>C (p.Arg1023Pro)
n.3215G>C
c.2261G>C (p.Arg754Pro)
c.2648G>C (p.Arg883Pro)
c.2012G>C (p.Arg671Pro)
c.-928G>C (n.-928G>C)
gnomAD v4
5g.177211467G=CA1603477914NSD1c.2195G= (p.Arg732=)
n.612+7175G=
n.2651G=
c.2759G= (p.Arg920=)
n.2465G=
c.3068G= (p.Arg1023=)
n.3215G=
c.2261G= (p.Arg754=)
c.2648G= (p.Arg883=)
c.2012G= (p.Arg671=)
c.-928G= (n.-928G=)
5g.177211467G>TCA3577370NSD1c.2195G>T (p.Arg732Leu)
n.612+7175G>T
n.2651G>T
c.2759G>T (p.Arg920Leu)
n.2465G>T
c.3068G>T (p.Arg1023Leu)
n.3215G>T
c.2261G>T (p.Arg754Leu)
c.2648G>T (p.Arg883Leu)
c.2012G>T (p.Arg671Leu)
c.-928G>T (n.-928G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211468A=CA1603477921NSD1c.2196A= (p.Arg732=)
n.612+7176A=
n.2652A=
c.2760A= (p.Arg920=)
n.2466A=
c.3069A= (p.Arg1023=)
n.3216A=
c.2262A= (p.Arg754=)
c.2649A= (p.Arg883=)
c.2013A= (p.Arg671=)
c.-927A= (n.-927A=)
5g.177211468A>CCA447960802NSD1c.2196A>C (p.Arg732=)
n.612+7176A>C
n.2652A>C
c.2760A>C (p.Arg920=)
n.2466A>C
c.3069A>C (p.Arg1023=)
n.3216A>C
c.2262A>C (p.Arg754=)
c.2649A>C (p.Arg883=)
c.2013A>C (p.Arg671=)
c.-927A>C (n.-927A>C)
5g.177211468A>GCA447960804NSD1c.2196A>G (p.Arg732=)
n.612+7176A>G
n.2652A>G
c.2760A>G (p.Arg920=)
n.2466A>G
c.3069A>G (p.Arg1023=)
n.3216A>G
c.2262A>G (p.Arg754=)
c.2649A>G (p.Arg883=)
c.2013A>G (p.Arg671=)
c.-927A>G (n.-927A>G)
5g.177211468A>TCA3577371NSD1c.2196A>T (p.Arg732=)
n.612+7176A>T
n.2652A>T
c.2760A>T (p.Arg920=)
n.2466A>T
c.3069A>T (p.Arg1023=)
n.3216A>T
c.2262A>T (p.Arg754=)
c.2649A>T (p.Arg883=)
c.2013A>T (p.Arg671=)
c.-927A>T (n.-927A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211469T>ACA362321849NSD1c.2197T>A (p.Ser733Thr)
n.612+7177T>A
n.2653T>A
c.2761T>A (p.Ser921Thr)
n.2467T>A
c.3070T>A (p.Ser1024Thr)
n.3217T>A
c.2263T>A (p.Ser755Thr)
c.2650T>A (p.Ser884Thr)
c.2014T>A (p.Ser672Thr)
c.-926T>A (n.-926T>A)
dbSNP
5g.177211469T>CCA362321851NSD1c.2197T>C (p.Ser733Pro)
n.612+7177T>C
n.2653T>C
c.2761T>C (p.Ser921Pro)
n.2467T>C
c.3070T>C (p.Ser1024Pro)
n.3217T>C
c.2263T>C (p.Ser755Pro)
c.2650T>C (p.Ser884Pro)
c.2014T>C (p.Ser672Pro)
c.-926T>C (n.-926T>C)
5g.177211469T>GCA362321853NSD1c.2197T>G (p.Ser733Ala)
n.612+7177T>G
n.2653T>G
c.2761T>G (p.Ser921Ala)
n.2467T>G
c.3070T>G (p.Ser1024Ala)
n.3217T>G
c.2263T>G (p.Ser755Ala)
c.2650T>G (p.Ser884Ala)
c.2014T>G (p.Ser672Ala)
c.-926T>G (n.-926T>G)
5g.177211470C>ACA362321856NSD1c.2198C>A (p.Ser733Ter)
n.612+7178C>A
n.2654C>A
c.2762C>A (p.Ser921Ter)
n.2468C>A
c.3071C>A (p.Ser1024Ter)
n.3218C>A
c.2264C>A (p.Ser755Ter)
c.2651C>A (p.Ser884Ter)
c.2015C>A (p.Ser672Ter)
c.-925C>A (n.-925C>A)
dbSNP
5g.177211470C>GCA362321858NSD1c.2198C>G (p.Ser733Ter)
n.612+7178C>G
n.2654C>G
c.2762C>G (p.Ser921Ter)
n.2468C>G
c.3071C>G (p.Ser1024Ter)
n.3218C>G
c.2264C>G (p.Ser755Ter)
c.2651C>G (p.Ser884Ter)
c.2015C>G (p.Ser672Ter)
c.-925C>G (n.-925C>G)
5g.177211470C>TCA362321861NSD1c.2198C>T (p.Ser733Leu)
n.612+7178C>T
n.2654C>T
c.2762C>T (p.Ser921Leu)
n.2468C>T
c.3071C>T (p.Ser1024Leu)
n.3218C>T
c.2264C>T (p.Ser755Leu)
c.2651C>T (p.Ser884Leu)
c.2015C>T (p.Ser672Leu)
c.-925C>T (n.-925C>T)
5g.177211471A>CCA447960811NSD1c.2199A>C (p.Ser733=)
n.612+7179A>C
n.2655A>C
c.2763A>C (p.Ser921=)
n.2469A>C
c.3072A>C (p.Ser1024=)
n.3219A>C
c.2265A>C (p.Ser755=)
c.2652A>C (p.Ser884=)
c.2016A>C (p.Ser672=)
c.-924A>C (n.-924A>C)
5g.177211471A>GCA447960812NSD1c.2199A>G (p.Ser733=)
n.612+7179A>G
n.2655A>G
c.2763A>G (p.Ser921=)
n.2469A>G
c.3072A>G (p.Ser1024=)
n.3219A>G
c.2265A>G (p.Ser755=)
c.2652A>G (p.Ser884=)
c.2016A>G (p.Ser672=)
c.-924A>G (n.-924A>G)
gnomAD v4
5g.177211471A>TCA447960813NSD1c.2199A>T (p.Ser733=)
n.612+7179A>T
n.2655A>T
c.2763A>T (p.Ser921=)
n.2469A>T
c.3072A>T (p.Ser1024=)
n.3219A>T
c.2265A>T (p.Ser755=)
c.2652A>T (p.Ser884=)
c.2016A>T (p.Ser672=)
c.-924A>T (n.-924A>T)
5g.177211472A>CCA362321866NSD1c.2200A>C (p.Lys734Gln)
n.612+7180A>C
n.2656A>C
c.2764A>C (p.Lys922Gln)
n.2470A>C
c.3073A>C (p.Lys1025Gln)
n.3220A>C
c.2266A>C (p.Lys756Gln)
c.2653A>C (p.Lys885Gln)
c.2017A>C (p.Lys673Gln)
c.-923A>C (n.-923A>C)
5g.177211472A>GCA362321867NSD1c.2200A>G (p.Lys734Glu)
n.612+7180A>G
n.2656A>G
c.2764A>G (p.Lys922Glu)
n.2470A>G
c.3073A>G (p.Lys1025Glu)
n.3220A>G
c.2266A>G (p.Lys756Glu)
c.2653A>G (p.Lys885Glu)
c.2017A>G (p.Lys673Glu)
c.-923A>G (n.-923A>G)
5g.177211472A>TCA362321864NSD1c.2200A>T (p.Lys734Ter)
n.612+7180A>T
n.2656A>T
c.2764A>T (p.Lys922Ter)
n.2470A>T
c.3073A>T (p.Lys1025Ter)
n.3220A>T
c.2266A>T (p.Lys756Ter)
c.2653A>T (p.Lys885Ter)
c.2017A>T (p.Lys673Ter)
c.-923A>T (n.-923A>T)
5g.177211473A>CCA362321870NSD1c.2201A>C (p.Lys734Thr)
n.612+7181A>C
n.2657A>C
c.2765A>C (p.Lys922Thr)
n.2471A>C
c.3074A>C (p.Lys1025Thr)
n.3221A>C
c.2267A>C (p.Lys756Thr)
c.2654A>C (p.Lys885Thr)
c.2018A>C (p.Lys673Thr)
c.-922A>C (n.-922A>C)
5g.177211473A>GCA362321872NSD1c.2201A>G (p.Lys734Arg)
n.612+7181A>G
n.2657A>G
c.2765A>G (p.Lys922Arg)
n.2471A>G
c.3074A>G (p.Lys1025Arg)
n.3221A>G
c.2267A>G (p.Lys756Arg)
c.2654A>G (p.Lys885Arg)
c.2018A>G (p.Lys673Arg)
c.-922A>G (n.-922A>G)
5g.177211473A>TCA362321875NSD1c.2201A>T (p.Lys734Met)
n.612+7181A>T
n.2657A>T
c.2765A>T (p.Lys922Met)
n.2471A>T
c.3074A>T (p.Lys1025Met)
n.3221A>T
c.2267A>T (p.Lys756Met)
c.2654A>T (p.Lys885Met)
c.2018A>T (p.Lys673Met)
c.-922A>T (n.-922A>T)
5g.177211474G>ACA447960818NSD1c.2202G>A (p.Lys734=)
n.612+7182G>A
n.2658G>A
c.2766G>A (p.Lys922=)
n.2472G>A
c.3075G>A (p.Lys1025=)
n.3222G>A
c.2268G>A (p.Lys756=)
c.2655G>A (p.Lys885=)
c.2019G>A (p.Lys673=)
c.-921G>A (n.-921G>A)
dbSNP gnomAD v4
5g.177211474G>CCA362321878NSD1c.2202G>C (p.Lys734Asn)
n.612+7182G>C
n.2658G>C
c.2766G>C (p.Lys922Asn)
n.2472G>C
c.3075G>C (p.Lys1025Asn)
n.3222G>C
c.2268G>C (p.Lys756Asn)
c.2655G>C (p.Lys885Asn)
c.2019G>C (p.Lys673Asn)
c.-921G>C (n.-921G>C)
5g.177211474G=CA1603477926NSD1c.2202G= (p.Lys734=)
n.612+7182G=
n.2658G=
c.2766G= (p.Lys922=)
n.2472G=
c.3075G= (p.Lys1025=)
n.3222G=
c.2268G= (p.Lys756=)
c.2655G= (p.Lys885=)
c.2019G= (p.Lys673=)
c.-921G= (n.-921G=)
5g.177211474G>TCA362321880NSD1c.2202G>T (p.Lys734Asn)
n.612+7182G>T
n.2658G>T
c.2766G>T (p.Lys922Asn)
n.2472G>T
c.3075G>T (p.Lys1025Asn)
n.3222G>T
c.2268G>T (p.Lys756Asn)
c.2655G>T (p.Lys885Asn)
c.2019G>T (p.Lys673Asn)
c.-921G>T (n.-921G>T)
5g.177211475C>ACA362321888NSD1c.2203C>A (p.Pro735Thr)
n.612+7183C>A
n.2659C>A
c.2767C>A (p.Pro923Thr)
n.2473C>A
c.3076C>A (p.Pro1026Thr)
n.3223C>A
c.2269C>A (p.Pro757Thr)
c.2656C>A (p.Pro886Thr)
c.2020C>A (p.Pro674Thr)
c.-920C>A (n.-920C>A)
gnomAD v4
5g.177211475C>GCA362321886NSD1c.2203C>G (p.Pro735Ala)
n.612+7183C>G
n.2659C>G
c.2767C>G (p.Pro923Ala)
n.2473C>G
c.3076C>G (p.Pro1026Ala)
n.3223C>G
c.2269C>G (p.Pro757Ala)
c.2656C>G (p.Pro886Ala)
c.2020C>G (p.Pro674Ala)
c.-920C>G (n.-920C>G)
gnomAD v4
5g.177211475C>TCA362321884NSD1c.2203C>T (p.Pro735Ser)
n.612+7183C>T
n.2659C>T
c.2767C>T (p.Pro923Ser)
n.2473C>T
c.3076C>T (p.Pro1026Ser)
n.3223C>T
c.2269C>T (p.Pro757Ser)
c.2656C>T (p.Pro886Ser)
c.2020C>T (p.Pro674Ser)
c.-920C>T (n.-920C>T)
dbSNP gnomAD v4
5g.177211476C>ACA362321891NSD1c.2204C>A (p.Pro735His)
n.612+7184C>A
n.2660C>A
c.2768C>A (p.Pro923His)
n.2474C>A
c.3077C>A (p.Pro1026His)
n.3224C>A
c.2270C>A (p.Pro757His)
c.2657C>A (p.Pro886His)
c.2021C>A (p.Pro674His)
c.-919C>A (n.-919C>A)
5g.177211476C>GCA362321893NSD1c.2204C>G (p.Pro735Arg)
n.612+7184C>G
n.2660C>G
c.2768C>G (p.Pro923Arg)
n.2474C>G
c.3077C>G (p.Pro1026Arg)
n.3224C>G
c.2270C>G (p.Pro757Arg)
c.2657C>G (p.Pro886Arg)
c.2021C>G (p.Pro674Arg)
c.-919C>G (n.-919C>G)
5g.177211476C>TCA362321894NSD1c.2204C>T (p.Pro735Leu)
n.612+7184C>T
n.2660C>T
c.2768C>T (p.Pro923Leu)
n.2474C>T
c.3077C>T (p.Pro1026Leu)
n.3224C>T
c.2270C>T (p.Pro757Leu)
c.2657C>T (p.Pro886Leu)
c.2021C>T (p.Pro674Leu)
c.-919C>T (n.-919C>T)
5g.177211477_177211479delCA2578494650NSD1c.2205_2207del (p.Ser736del)
n.612+7185_612+7187del
n.2661_2663del
c.2769_2771del (p.Ser924del)
n.2475_2477del
c.3078_3080del (p.Ser1027del)
n.3225_3227del
c.2271_2273del (p.Ser758del)
c.2658_2660del (p.Ser887del)
c.2022_2024del (p.Ser675del)
c.-918_-916del (n.-918_-916del)
5g.177211477T>ACA447960821NSD1c.2205T>A (p.Pro735=)
n.612+7185T>A
n.2661T>A
c.2769T>A (p.Pro923=)
n.2475T>A
c.3078T>A (p.Pro1026=)
n.3225T>A
c.2271T>A (p.Pro757=)
c.2658T>A (p.Pro886=)
c.2022T>A (p.Pro674=)
c.-918T>A (n.-918T>A)
dbSNP
5g.177211477T>CCA447960822NSD1c.2205T>C (p.Pro735=)
n.612+7185T>C
n.2661T>C
c.2769T>C (p.Pro923=)
n.2475T>C
c.3078T>C (p.Pro1026=)
n.3225T>C
c.2271T>C (p.Pro757=)
c.2658T>C (p.Pro886=)
c.2022T>C (p.Pro674=)
c.-918T>C (n.-918T>C)
5g.177211477T>GCA447960823NSD1c.2205T>G (p.Pro735=)
n.612+7185T>G
n.2661T>G
c.2769T>G (p.Pro923=)
n.2475T>G
c.3078T>G (p.Pro1026=)
n.3225T>G
c.2271T>G (p.Pro757=)
c.2658T>G (p.Pro886=)
c.2022T>G (p.Pro674=)
c.-918T>G (n.-918T>G)
5g.177211478T>ACA362321898NSD1c.2206T>A (p.Ser736Thr)
n.612+7186T>A
n.2662T>A
c.2770T>A (p.Ser924Thr)
n.2476T>A
c.3079T>A (p.Ser1027Thr)
n.3226T>A
c.2272T>A (p.Ser758Thr)
c.2659T>A (p.Ser887Thr)
c.2023T>A (p.Ser675Thr)
c.-917T>A (n.-917T>A)
5g.177211478T>CCA362321899NSD1c.2206T>C (p.Ser736Pro)
n.612+7186T>C
n.2662T>C
c.2770T>C (p.Ser924Pro)
n.2476T>C
c.3079T>C (p.Ser1027Pro)
n.3226T>C
c.2272T>C (p.Ser758Pro)
c.2659T>C (p.Ser887Pro)
c.2023T>C (p.Ser675Pro)
c.-917T>C (n.-917T>C)
5g.177211478T>GCA3577372NSD1c.2206T>G (p.Ser736Ala)
n.612+7186T>G
n.2662T>G
c.2770T>G (p.Ser924Ala)
n.2476T>G
c.3079T>G (p.Ser1027Ala)
n.3226T>G
c.2272T>G (p.Ser758Ala)
c.2659T>G (p.Ser887Ala)
c.2023T>G (p.Ser675Ala)
c.-917T>G (n.-917T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211478T=CA1603477931NSD1c.2206T= (p.Ser736=)
n.612+7186T=
n.2662T=
c.2770T= (p.Ser924=)
n.2476T=
c.3079T= (p.Ser1027=)
n.3226T=
c.2272T= (p.Ser758=)
c.2659T= (p.Ser887=)
c.2023T= (p.Ser675=)
c.-917T= (n.-917T=)
5g.177211479C>ACA362321907NSD1c.2207C>A (p.Ser736Ter)
n.612+7187C>A
n.2663C>A
c.2771C>A (p.Ser924Ter)
n.2477C>A
c.3080C>A (p.Ser1027Ter)
n.3227C>A
c.2273C>A (p.Ser758Ter)
c.2660C>A (p.Ser887Ter)
c.2024C>A (p.Ser675Ter)
c.-916C>A (n.-916C>A)
5g.177211479C>GCA362321905NSD1c.2207C>G (p.Ser736Ter)
n.612+7187C>G
n.2663C>G
c.2771C>G (p.Ser924Ter)
n.2477C>G
c.3080C>G (p.Ser1027Ter)
n.3227C>G
c.2273C>G (p.Ser758Ter)
c.2660C>G (p.Ser887Ter)
c.2024C>G (p.Ser675Ter)
c.-916C>G (n.-916C>G)
dbSNP
5g.177211479C>TCA362321903NSD1c.2207C>T (p.Ser736Leu)
n.612+7187C>T
n.2663C>T
c.2771C>T (p.Ser924Leu)
n.2477C>T
c.3080C>T (p.Ser1027Leu)
n.3227C>T
c.2273C>T (p.Ser758Leu)
c.2660C>T (p.Ser887Leu)
c.2024C>T (p.Ser675Leu)
c.-916C>T (n.-916C>T)
5g.177211480A=CA1603477937NSD1c.2208A= (p.Ser736=)
n.612+7188A=
n.2664A=
c.2772A= (p.Ser924=)
n.2478A=
c.3081A= (p.Ser1027=)
n.3228A=
c.2274A= (p.Ser758=)
c.2661A= (p.Ser887=)
c.2025A= (p.Ser675=)
c.-915A= (n.-915A=)
5g.177211480A>CCA447960829NSD1c.2208A>C (p.Ser736=)
n.612+7188A>C
n.2664A>C
c.2772A>C (p.Ser924=)
n.2478A>C
c.3081A>C (p.Ser1027=)
n.3228A>C
c.2274A>C (p.Ser758=)
c.2661A>C (p.Ser887=)
c.2025A>C (p.Ser675=)
c.-915A>C (n.-915A>C)
5g.177211480A>GCA447960831NSD1c.2208A>G (p.Ser736=)
n.612+7188A>G
n.2664A>G
c.2772A>G (p.Ser924=)
n.2478A>G
c.3081A>G (p.Ser1027=)
n.3228A>G
c.2274A>G (p.Ser758=)
c.2661A>G (p.Ser887=)
c.2025A>G (p.Ser675=)
c.-915A>G (n.-915A>G)
dbSNP gnomAD v4
5g.177211480A>TCA447960832NSD1c.2208A>T (p.Ser736=)
n.612+7188A>T
n.2664A>T
c.2772A>T (p.Ser924=)
n.2478A>T
c.3081A>T (p.Ser1027=)
n.3228A>T
c.2274A>T (p.Ser758=)
c.2661A>T (p.Ser887=)
c.2025A>T (p.Ser675=)
c.-915A>T (n.-915A>T)
dbSNP gnomAD v3 gnomAD v4
5g.177211481T>ACA362321911NSD1c.2209T>A (p.Ser737Thr)
n.612+7189T>A
n.2665T>A
c.2773T>A (p.Ser925Thr)
n.2479T>A
c.3082T>A (p.Ser1028Thr)
n.3229T>A
c.2275T>A (p.Ser759Thr)
c.2662T>A (p.Ser888Thr)
c.2026T>A (p.Ser676Thr)
c.-914T>A (n.-914T>A)
5g.177211481T>CCA362321915NSD1c.2209T>C (p.Ser737Pro)
n.612+7189T>C
n.2665T>C
c.2773T>C (p.Ser925Pro)
n.2479T>C
c.3082T>C (p.Ser1028Pro)
n.3229T>C
c.2275T>C (p.Ser759Pro)
c.2662T>C (p.Ser888Pro)
c.2026T>C (p.Ser676Pro)
c.-914T>C (n.-914T>C)
5g.177211481T>GCA362321913NSD1c.2209T>G (p.Ser737Ala)
n.612+7189T>G
n.2665T>G
c.2773T>G (p.Ser925Ala)
n.2479T>G
c.3082T>G (p.Ser1028Ala)
n.3229T>G
c.2275T>G (p.Ser759Ala)
c.2662T>G (p.Ser888Ala)
c.2026T>G (p.Ser676Ala)
c.-914T>G (n.-914T>G)
5g.177211482C>ACA362321918NSD1c.2210C>A (p.Ser737Tyr)
n.612+7190C>A
n.2666C>A
c.2774C>A (p.Ser925Tyr)
n.2480C>A
c.3083C>A (p.Ser1028Tyr)
n.3230C>A
c.2276C>A (p.Ser759Tyr)
c.2663C>A (p.Ser888Tyr)
c.2027C>A (p.Ser676Tyr)
c.-913C>A (n.-913C>A)
dbSNP
5g.177211482C>GCA362321922NSD1c.2210C>G (p.Ser737Cys)
n.612+7190C>G
n.2666C>G
c.2774C>G (p.Ser925Cys)
n.2480C>G
c.3083C>G (p.Ser1028Cys)
n.3230C>G
c.2276C>G (p.Ser759Cys)
c.2663C>G (p.Ser888Cys)
c.2027C>G (p.Ser676Cys)
c.-913C>G (n.-913C>G)
dbSNP
5g.177211482C>TCA362321920NSD1c.2210C>T (p.Ser737Phe)
n.612+7190C>T
n.2666C>T
c.2774C>T (p.Ser925Phe)
n.2480C>T
c.3083C>T (p.Ser1028Phe)
n.3230C>T
c.2276C>T (p.Ser759Phe)
c.2663C>T (p.Ser888Phe)
c.2027C>T (p.Ser676Phe)
c.-913C>T (n.-913C>T)
5g.177211483C>ACA447960838NSD1c.2211C>A (p.Ser737=)
n.612+7191C>A
n.2667C>A
c.2775C>A (p.Ser925=)
n.2481C>A
c.3084C>A (p.Ser1028=)
n.3231C>A
c.2277C>A (p.Ser759=)
c.2664C>A (p.Ser888=)
c.2028C>A (p.Ser676=)
c.-912C>A (n.-912C>A)
dbSNP
5g.177211483C>GCA447960834NSD1c.2211C>G (p.Ser737=)
n.612+7191C>G
n.2667C>G
c.2775C>G (p.Ser925=)
n.2481C>G
c.3084C>G (p.Ser1028=)
n.3231C>G
c.2277C>G (p.Ser759=)
c.2664C>G (p.Ser888=)
c.2028C>G (p.Ser676=)
c.-912C>G (n.-912C>G)
5g.177211483C>TCA447960837NSD1c.2211C>T (p.Ser737=)
n.612+7191C>T
n.2667C>T
c.2775C>T (p.Ser925=)
n.2481C>T
c.3084C>T (p.Ser1028=)
n.3231C>T
c.2277C>T (p.Ser759=)
c.2664C>T (p.Ser888=)
c.2028C>T (p.Ser676=)
c.-912C>T (n.-912C>T)
5g.177211484A>CCA362321924NSD1c.2212A>C (p.Lys738Gln)
n.612+7192A>C
n.2668A>C
c.2776A>C (p.Lys926Gln)
n.2482A>C
c.3085A>C (p.Lys1029Gln)
n.3232A>C
c.2278A>C (p.Lys760Gln)
c.2665A>C (p.Lys889Gln)
c.2029A>C (p.Lys677Gln)
c.-911A>C (n.-911A>C)
gnomAD v4
5g.177211484A>GCA362321926NSD1c.2212A>G (p.Lys738Glu)
n.612+7192A>G
n.2668A>G
c.2776A>G (p.Lys926Glu)
n.2482A>G
c.3085A>G (p.Lys1029Glu)
n.3232A>G
c.2278A>G (p.Lys760Glu)
c.2665A>G (p.Lys889Glu)
c.2029A>G (p.Lys677Glu)
c.-911A>G (n.-911A>G)
5g.177211484A>TCA362321928NSD1c.2212A>T (p.Lys738Ter)
n.612+7192A>T
n.2668A>T
c.2776A>T (p.Lys926Ter)
n.2482A>T
c.3085A>T (p.Lys1029Ter)
n.3232A>T
c.2278A>T (p.Lys760Ter)
c.2665A>T (p.Lys889Ter)
c.2029A>T (p.Lys677Ter)
c.-911A>T (n.-911A>T)
5g.177211485A>CCA362321930NSD1c.2213A>C (p.Lys738Thr)
n.612+7193A>C
n.2669A>C
c.2777A>C (p.Lys926Thr)
n.2483A>C
c.3086A>C (p.Lys1029Thr)
n.3233A>C
c.2279A>C (p.Lys760Thr)
c.2666A>C (p.Lys889Thr)
c.2030A>C (p.Lys677Thr)
c.-910A>C (n.-910A>C)
5g.177211485A>GCA362321931NSD1c.2213A>G (p.Lys738Arg)
n.612+7193A>G
n.2669A>G
c.2777A>G (p.Lys926Arg)
n.2483A>G
c.3086A>G (p.Lys1029Arg)
n.3233A>G
c.2279A>G (p.Lys760Arg)
c.2666A>G (p.Lys889Arg)
c.2030A>G (p.Lys677Arg)
c.-910A>G (n.-910A>G)
5g.177211485A>TCA362321933NSD1c.2213A>T (p.Lys738Ile)
n.612+7193A>T
n.2669A>T
c.2777A>T (p.Lys926Ile)
n.2483A>T
c.3086A>T (p.Lys1029Ile)
n.3233A>T
c.2279A>T (p.Lys760Ile)
c.2666A>T (p.Lys889Ile)
c.2030A>T (p.Lys677Ile)
c.-910A>T (n.-910A>T)
5g.177211486A=CA1603477941NSD1c.2214A= (p.Lys738=)
n.612+7194A=
n.2670A=
c.2778A= (p.Lys926=)
n.2484A=
c.3087A= (p.Lys1029=)
n.3234A=
c.2280A= (p.Lys760=)
c.2667A= (p.Lys889=)
c.2031A= (p.Lys677=)
c.-909A= (n.-909A=)
5g.177211486A>CCA362321936NSD1c.2214A>C (p.Lys738Asn)
n.612+7194A>C
n.2670A>C
c.2778A>C (p.Lys926Asn)
n.2484A>C
c.3087A>C (p.Lys1029Asn)
n.3234A>C
c.2280A>C (p.Lys760Asn)
c.2667A>C (p.Lys889Asn)
c.2031A>C (p.Lys677Asn)
c.-909A>C (n.-909A>C)
dbSNP gnomAD v2 gnomAD v4
5g.177211486A>GCA447960841NSD1c.2214A>G (p.Lys738=)
n.612+7194A>G
n.2670A>G
c.2778A>G (p.Lys926=)
n.2484A>G
c.3087A>G (p.Lys1029=)
n.3234A>G
c.2280A>G (p.Lys760=)
c.2667A>G (p.Lys889=)
c.2031A>G (p.Lys677=)
c.-909A>G (n.-909A>G)
5g.177211486A>TCA362321938NSD1c.2214A>T (p.Lys738Asn)
n.612+7194A>T
n.2670A>T
c.2778A>T (p.Lys926Asn)
n.2484A>T
c.3087A>T (p.Lys1029Asn)
n.3234A>T
c.2280A>T (p.Lys760Asn)
c.2667A>T (p.Lys889Asn)
c.2031A>T (p.Lys677Asn)
c.-909A>T (n.-909A>T)
5g.177211487T>ACA362321942NSD1c.2215T>A (p.Leu739Met)
n.612+7195T>A
n.2671T>A
c.2779T>A (p.Leu927Met)
n.2485T>A
c.3088T>A (p.Leu1030Met)
n.3235T>A
c.2281T>A (p.Leu761Met)
c.2668T>A (p.Leu890Met)
c.2032T>A (p.Leu678Met)
c.-908T>A (n.-908T>A)
5g.177211487T>CCA223664NSD1c.2215T>C (p.Leu739=)
n.612+7195T>C
n.2671T>C
c.2779T>C (p.Leu927=)
n.2485T>C
c.3088T>C (p.Leu1030=)
n.3235T>C
c.2281T>C (p.Leu761=)
c.2668T>C (p.Leu890=)
c.2032T>C (p.Leu678=)
c.-908T>C (n.-908T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211487T>GCA362321945NSD1c.2215T>G (p.Leu739Val)
n.612+7195T>G
n.2671T>G
c.2779T>G (p.Leu927Val)
n.2485T>G
c.3088T>G (p.Leu1030Val)
n.3235T>G
c.2281T>G (p.Leu761Val)
c.2668T>G (p.Leu890Val)
c.2032T>G (p.Leu678Val)
c.-908T>G (n.-908T>G)
5g.177211487T=CA1603477945NSD1c.2215T= (p.Leu739=)
n.612+7195T=
n.2671T=
c.2779T= (p.Leu927=)
n.2485T=
c.3088T= (p.Leu1030=)
n.3235T=
c.2281T= (p.Leu761=)
c.2668T= (p.Leu890=)
c.2032T= (p.Leu678=)
c.-908T= (n.-908T=)
5g.177211488T>ACA362321949NSD1c.2216T>A (p.Leu739Ter)
n.612+7196T>A
n.2672T>A
c.2780T>A (p.Leu927Ter)
n.2486T>A
c.3089T>A (p.Leu1030Ter)
n.3236T>A
c.2282T>A (p.Leu761Ter)
c.2669T>A (p.Leu890Ter)
c.2033T>A (p.Leu678Ter)
c.-907T>A (n.-907T>A)
5g.177211488T>CCA172795NSD1c.2216T>C (p.Leu739Ser)
n.612+7196T>C
n.2672T>C
c.2780T>C (p.Leu927Ser)
n.2486T>C
c.3089T>C (p.Leu1030Ser)
n.3236T>C
c.2282T>C (p.Leu761Ser)
c.2669T>C (p.Leu890Ser)
c.2033T>C (p.Leu678Ser)
c.-907T>C (n.-907T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211488T>GCA362321947NSD1c.2216T>G (p.Leu739Trp)
n.612+7196T>G
n.2672T>G
c.2780T>G (p.Leu927Trp)
n.2486T>G
c.3089T>G (p.Leu1030Trp)
n.3236T>G
c.2282T>G (p.Leu761Trp)
c.2669T>G (p.Leu890Trp)
c.2033T>G (p.Leu678Trp)
c.-907T>G (n.-907T>G)
5g.177211488T=CA1603477950NSD1c.2216T= (p.Leu739=)
n.612+7196T=
n.2672T=
c.2780T= (p.Leu927=)
n.2486T=
c.3089T= (p.Leu1030=)
n.3236T=
c.2282T= (p.Leu761=)
c.2669T= (p.Leu890=)
c.2033T= (p.Leu678=)
c.-907T= (n.-907T=)
5g.177211488_177211489delinsCTCA2580074127NSD1c.2216_2217delinsCT (p.Leu739Ser)
n.612+7196_612+7197delinsCT
n.2672_2673delinsCT
c.2780_2781delinsCT (p.Leu927Ser)
n.2486_2487delinsCT
c.3089_3090delinsCT (p.Leu1030Ser)
n.3236_3237delinsCT
c.2282_2283delinsCT (p.Leu761Ser)
c.2669_2670delinsCT (p.Leu890Ser)
c.2033_2034delinsCT (p.Leu678Ser)
c.-907_-906delinsCT (n.-907_-906delinsCT)
ClinVar
5g.177211489G>ACA132830985NSD1c.2217G>A (p.Leu739=)
n.612+7197G>A
n.2673G>A
c.2781G>A (p.Leu927=)
n.2487G>A
c.3090G>A (p.Leu1030=)
n.3237G>A
c.2283G>A (p.Leu761=)
c.2670G>A (p.Leu890=)
c.2034G>A (p.Leu678=)
c.-906G>A (n.-906G>A)
dbSNP
5g.177211489G>CCA362321955NSD1c.2217G>C (p.Leu739Phe)
n.612+7197G>C
n.2673G>C
c.2781G>C (p.Leu927Phe)
n.2487G>C
c.3090G>C (p.Leu1030Phe)
n.3237G>C
c.2283G>C (p.Leu761Phe)
c.2670G>C (p.Leu890Phe)
c.2034G>C (p.Leu678Phe)
c.-906G>C (n.-906G>C)
dbSNP
5g.177211489G=CA1603477953NSD1c.2217G= (p.Leu739=)
n.612+7197G=
n.2673G=
c.2781G= (p.Leu927=)
n.2487G=
c.3090G= (p.Leu1030=)
n.3237G=
c.2283G= (p.Leu761=)
c.2670G= (p.Leu890=)
c.2034G= (p.Leu678=)
c.-906G= (n.-906G=)
5g.177211489G>TCA3577373NSD1c.2217G>T (p.Leu739Phe)
n.612+7197G>T
n.2673G>T
c.2781G>T (p.Leu927Phe)
n.2487G>T
c.3090G>T (p.Leu1030Phe)
n.3237G>T
c.2283G>T (p.Leu761Phe)
c.2670G>T (p.Leu890Phe)
c.2034G>T (p.Leu678Phe)
c.-906G>T (n.-906G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211490C>ACA447960849NSD1c.2218C>A (p.Arg740=)
n.612+7198C>A
n.2674C>A
c.2782C>A (p.Arg928=)
n.2488C>A
c.3091C>A (p.Arg1031=)
n.3238C>A
c.2284C>A (p.Arg762=)
c.2671C>A (p.Arg891=)
c.2035C>A (p.Arg679=)
c.-905C>A (n.-905C>A)
5g.177211490C=CA1603477969NSD1c.2218C= (p.Arg740=)
n.612+7198C=
n.2674C=
c.2782C= (p.Arg928=)
n.2488C=
c.3091C= (p.Arg1031=)
n.3238C=
c.2284C= (p.Arg762=)
c.2671C= (p.Arg891=)
c.2035C= (p.Arg679=)
c.-905C= (n.-905C=)
5g.177211490C>GCA362321958NSD1c.2218C>G (p.Arg740Gly)
n.612+7198C>G
n.2674C>G
c.2782C>G (p.Arg928Gly)
n.2488C>G
c.3091C>G (p.Arg1031Gly)
n.3238C>G
c.2284C>G (p.Arg762Gly)
c.2671C>G (p.Arg891Gly)
c.2035C>G (p.Arg679Gly)
c.-905C>G (n.-905C>G)
dbSNP
5g.177211490C>TCA294842NSD1c.2218C>T (p.Arg740Ter)
n.612+7198C>T
n.2674C>T
c.2782C>T (p.Arg928Ter)
n.2488C>T
c.3091C>T (p.Arg1031Ter)
n.3238C>T
c.2284C>T (p.Arg762Ter)
c.2671C>T (p.Arg891Ter)
c.2035C>T (p.Arg679Ter)
c.-905C>T (n.-905C>T)
ClinVar dbSNP COSMIC COSMIC
5g.177211491G>ACA3577374NSD1c.2219G>A (p.Arg740Gln)
n.612+7199G>A
n.2675G>A
c.2783G>A (p.Arg928Gln)
n.2489G>A
c.3092G>A (p.Arg1031Gln)
n.3239G>A
c.2285G>A (p.Arg762Gln)
c.2672G>A (p.Arg891Gln)
c.2036G>A (p.Arg679Gln)
c.-904G>A (n.-904G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177211491G>CCA362321964NSD1c.2219G>C (p.Arg740Pro)
n.612+7199G>C
n.2675G>C
c.2783G>C (p.Arg928Pro)
n.2489G>C
c.3092G>C (p.Arg1031Pro)
n.3239G>C
c.2285G>C (p.Arg762Pro)
c.2672G>C (p.Arg891Pro)
c.2036G>C (p.Arg679Pro)
c.-904G>C (n.-904G>C)
gnomAD v4
5g.177211491G=CA1603477971NSD1c.2219G= (p.Arg740=)
n.612+7199G=
n.2675G=
c.2783G= (p.Arg928=)
n.2489G=
c.3092G= (p.Arg1031=)
n.3239G=
c.2285G= (p.Arg762=)
c.2672G= (p.Arg891=)
c.2036G= (p.Arg679=)
c.-904G= (n.-904G=)
5g.177211491G>TCA362321966NSD1c.2219G>T (p.Arg740Leu)
n.612+7199G>T
n.2675G>T
c.2783G>T (p.Arg928Leu)
n.2489G>T
c.3092G>T (p.Arg1031Leu)
n.3239G>T
c.2285G>T (p.Arg762Leu)
c.2672G>T (p.Arg891Leu)
c.2036G>T (p.Arg679Leu)
c.-904G>T (n.-904G>T)
5g.177211492A>CCA447960852NSD1c.2220A>C (p.Arg740=)
n.612+7200A>C
n.2676A>C
c.2784A>C (p.Arg928=)
n.2490A>C
c.3093A>C (p.Arg1031=)
n.3240A>C
c.2286A>C (p.Arg762=)
c.2673A>C (p.Arg891=)
c.2037A>C (p.Arg679=)
c.-903A>C (n.-903A>C)
5g.177211492A>GCA447960853NSD1c.2220A>G (p.Arg740=)
n.612+7200A>G
n.2676A>G
c.2784A>G (p.Arg928=)
n.2490A>G
c.3093A>G (p.Arg1031=)
n.3240A>G
c.2286A>G (p.Arg762=)
c.2673A>G (p.Arg891=)
c.2037A>G (p.Arg679=)
c.-903A>G (n.-903A>G)
5g.177211492A>TCA447960854NSD1c.2220A>T (p.Arg740=)
n.612+7200A>T
n.2676A>T
c.2784A>T (p.Arg928=)
n.2490A>T
c.3093A>T (p.Arg1031=)
n.3240A>T
c.2286A>T (p.Arg762=)
c.2673A>T (p.Arg891=)
c.2037A>T (p.Arg679=)
c.-903A>T (n.-903A>T)
5g.177211493G>ACA362321969NSD1c.2221G>A (p.Asp741Asn)
n.612+7201G>A
n.2677G>A
c.2785G>A (p.Asp929Asn)
n.2491G>A
c.3094G>A (p.Asp1032Asn)
n.3241G>A
c.2287G>A (p.Asp763Asn)
c.2674G>A (p.Asp892Asn)
c.2038G>A (p.Asp680Asn)
c.-902G>A (n.-902G>A)
dbSNP
5g.177211493G>CCA362321971NSD1c.2221G>C (p.Asp741His)
n.612+7201G>C
n.2677G>C
c.2785G>C (p.Asp929His)
n.2491G>C
c.3094G>C (p.Asp1032His)
n.3241G>C
c.2287G>C (p.Asp763His)
c.2674G>C (p.Asp892His)
c.2038G>C (p.Asp680His)
c.-902G>C (n.-902G>C)
5g.177211493G=CA1603477975NSD1c.2221G= (p.Asp741=)
n.612+7201G=
n.2677G=
c.2785G= (p.Asp929=)
n.2491G=
c.3094G= (p.Asp1032=)
n.3241G=
c.2287G= (p.Asp763=)
c.2674G= (p.Asp892=)
c.2038G= (p.Asp680=)
c.-902G= (n.-902G=)
5g.177211493G>TCA362321974NSD1c.2221G>T (p.Asp741Tyr)
n.612+7201G>T
n.2677G>T
c.2785G>T (p.Asp929Tyr)
n.2491G>T
c.3094G>T (p.Asp1032Tyr)
n.3241G>T
c.2287G>T (p.Asp763Tyr)
c.2674G>T (p.Asp892Tyr)
c.2038G>T (p.Asp680Tyr)
c.-902G>T (n.-902G>T)
5g.177211494A>CCA362321981NSD1c.2222A>C (p.Asp741Ala)
n.612+7202A>C
n.2678A>C
c.2786A>C (p.Asp929Ala)
n.2492A>C
c.3095A>C (p.Asp1032Ala)
n.3242A>C
c.2288A>C (p.Asp763Ala)
c.2675A>C (p.Asp892Ala)
c.2039A>C (p.Asp680Ala)
c.-901A>C (n.-901A>C)
5g.177211494A>GCA362321979NSD1c.2222A>G (p.Asp741Gly)
n.612+7202A>G
n.2678A>G
c.2786A>G (p.Asp929Gly)
n.2492A>G
c.3095A>G (p.Asp1032Gly)
n.3242A>G
c.2288A>G (p.Asp763Gly)
c.2675A>G (p.Asp892Gly)
c.2039A>G (p.Asp680Gly)
c.-901A>G (n.-901A>G)
dbSNP gnomAD v4
5g.177211494A>TCA362321977NSD1c.2222A>T (p.Asp741Val)
n.612+7202A>T
n.2678A>T
c.2786A>T (p.Asp929Val)
n.2492A>T
c.3095A>T (p.Asp1032Val)
n.3242A>T
c.2288A>T (p.Asp763Val)
c.2675A>T (p.Asp892Val)
c.2039A>T (p.Asp680Val)
c.-901A>T (n.-901A>T)
dbSNP
5g.177211495T>ACA362321983NSD1c.2223T>A (p.Asp741Glu)
n.612+7203T>A
n.2679T>A
c.2787T>A (p.Asp929Glu)
n.2493T>A
c.3096T>A (p.Asp1032Glu)
n.3243T>A
c.2289T>A (p.Asp763Glu)
c.2676T>A (p.Asp892Glu)
c.2040T>A (p.Asp680Glu)
c.-900T>A (n.-900T>A)
5g.177211495T>CCA447960859NSD1c.2223T>C (p.Asp741=)
n.612+7203T>C
n.2679T>C
c.2787T>C (p.Asp929=)
n.2493T>C
c.3096T>C (p.Asp1032=)
n.3243T>C
c.2289T>C (p.Asp763=)
c.2676T>C (p.Asp892=)
c.2040T>C (p.Asp680=)
c.-900T>C (n.-900T>C)
5g.177211495T>GCA362321985NSD1c.2223T>G (p.Asp741Glu)
n.612+7203T>G
n.2679T>G
c.2787T>G (p.Asp929Glu)
n.2493T>G
c.3096T>G (p.Asp1032Glu)
n.3243T>G
c.2289T>G (p.Asp763Glu)
c.2676T>G (p.Asp892Glu)
c.2040T>G (p.Asp680Glu)
c.-900T>G (n.-900T>G)
5g.177211496G>ACA362321987NSD1c.2224G>A (p.Ala742Thr)
n.612+7204G>A
n.2680G>A
c.2788G>A (p.Ala930Thr)
n.2494G>A
c.3097G>A (p.Ala1033Thr)
n.3244G>A
c.2290G>A (p.Ala764Thr)
c.2677G>A (p.Ala893Thr)
c.2041G>A (p.Ala681Thr)
c.-899G>A (n.-899G>A)
gnomAD v4 COSMIC COSMIC
5g.177211496G>CCA362321989NSD1c.2224G>C (p.Ala742Pro)
n.612+7204G>C
n.2680G>C
c.2788G>C (p.Ala930Pro)
n.2494G>C
c.3097G>C (p.Ala1033Pro)
n.3244G>C
c.2290G>C (p.Ala764Pro)
c.2677G>C (p.Ala893Pro)
c.2041G>C (p.Ala681Pro)
c.-899G>C (n.-899G>C)
5g.177211496G>TCA362321991NSD1c.2224G>T (p.Ala742Ser)
n.612+7204G>T
n.2680G>T
c.2788G>T (p.Ala930Ser)
n.2494G>T
c.3097G>T (p.Ala1033Ser)
n.3244G>T
c.2290G>T (p.Ala764Ser)
c.2677G>T (p.Ala893Ser)
c.2041G>T (p.Ala681Ser)
c.-899G>T (n.-899G>T)
5g.177211497C>ACA362321995NSD1c.2225C>A (p.Ala742Asp)
n.612+7205C>A
n.2681C>A
c.2789C>A (p.Ala930Asp)
n.2495C>A
c.3098C>A (p.Ala1033Asp)
n.3245C>A
c.2291C>A (p.Ala764Asp)
c.2678C>A (p.Ala893Asp)
c.2042C>A (p.Ala681Asp)
c.-898C>A (n.-898C>A)
5g.177211497C=CA1603477983NSD1c.2225C= (p.Ala742=)
n.612+7205C=
n.2681C=
c.2789C= (p.Ala930=)
n.2495C=
c.3098C= (p.Ala1033=)
n.3245C=
c.2291C= (p.Ala764=)
c.2678C= (p.Ala893=)
c.2042C= (p.Ala681=)
c.-898C= (n.-898C=)
5g.177211497C>GCA362321997NSD1c.2225C>G (p.Ala742Gly)
n.612+7205C>G
n.2681C>G
c.2789C>G (p.Ala930Gly)
n.2495C>G
c.3098C>G (p.Ala1033Gly)
n.3245C>G
c.2291C>G (p.Ala764Gly)
c.2678C>G (p.Ala893Gly)
c.2042C>G (p.Ala681Gly)
c.-898C>G (n.-898C>G)
gnomAD v4
5g.177211497C>TCA3577375NSD1c.2225C>T (p.Ala742Val)
n.612+7205C>T
n.2681C>T
c.2789C>T (p.Ala930Val)
n.2495C>T
c.3098C>T (p.Ala1033Val)
n.3245C>T
c.2291C>T (p.Ala764Val)
c.2678C>T (p.Ala893Val)
c.2042C>T (p.Ala681Val)
c.-898C>T (n.-898C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211498T>ACA447960865NSD1c.2226T>A (p.Ala742=)
n.612+7206T>A
n.2682T>A
c.2790T>A (p.Ala930=)
n.2496T>A
c.3099T>A (p.Ala1033=)
n.3246T>A
c.2292T>A (p.Ala764=)
c.2679T>A (p.Ala893=)
c.2043T>A (p.Ala681=)
c.-897T>A (n.-897T>A)
5g.177211498T>CCA3577376NSD1c.2226T>C (p.Ala742=)
n.612+7206T>C
n.2682T>C
c.2790T>C (p.Ala930=)
n.2496T>C
c.3099T>C (p.Ala1033=)
n.3246T>C
c.2292T>C (p.Ala764=)
c.2679T>C (p.Ala893=)
c.2043T>C (p.Ala681=)
c.-897T>C (n.-897T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211498T>GCA447960867NSD1c.2226T>G (p.Ala742=)
n.612+7206T>G
n.2682T>G
c.2790T>G (p.Ala930=)
n.2496T>G
c.3099T>G (p.Ala1033=)
n.3246T>G
c.2292T>G (p.Ala764=)
c.2679T>G (p.Ala893=)
c.2043T>G (p.Ala681=)
c.-897T>G (n.-897T>G)
gnomAD v4
5g.177211498T=CA1603477988NSD1c.2226T= (p.Ala742=)
n.612+7206T=
n.2682T=
c.2790T= (p.Ala930=)
n.2496T=
c.3099T= (p.Ala1033=)
n.3246T=
c.2292T= (p.Ala764=)
c.2679T= (p.Ala893=)
c.2043T= (p.Ala681=)
c.-897T= (n.-897T=)
5g.177211502delCA2711100344NSD1c.2230del (p.Ser744GlnfsTer5)
n.612+7210del
n.2686del
c.2794del (p.Ser932GlnfsTer5)
n.2500del
c.3103del (p.Ser1035GlnfsTer5)
n.3250del
c.2296del (p.Ser766GlnfsTer5)
c.2683del (p.Ser895GlnfsTer5)
c.2047del (p.Ser683GlnfsTer5)
c.-893del (n.-893del)
dbSNP
5g.177211499T>ACA362322003NSD1c.2227T>A (p.Phe743Ile)
n.612+7207T>A
n.2683T>A
c.2791T>A (p.Phe931Ile)
n.2497T>A
c.3100T>A (p.Phe1034Ile)
n.3247T>A
c.2293T>A (p.Phe765Ile)
c.2680T>A (p.Phe894Ile)
c.2044T>A (p.Phe682Ile)
c.-896T>A (n.-896T>A)
5g.177211499T>CCA362322005NSD1c.2227T>C (p.Phe743Leu)
n.612+7207T>C
n.2683T>C
c.2791T>C (p.Phe931Leu)
n.2497T>C
c.3100T>C (p.Phe1034Leu)
n.3247T>C
c.2293T>C (p.Phe765Leu)
c.2680T>C (p.Phe894Leu)
c.2044T>C (p.Phe682Leu)
c.-896T>C (n.-896T>C)
5g.177211499T>GCA362322007NSD1c.2227T>G (p.Phe743Val)
n.612+7207T>G
n.2683T>G
c.2791T>G (p.Phe931Val)
n.2497T>G
c.3100T>G (p.Phe1034Val)
n.3247T>G
c.2293T>G (p.Phe765Val)
c.2680T>G (p.Phe894Val)
c.2044T>G (p.Phe682Val)
c.-896T>G (n.-896T>G)
COSMIC COSMIC
5g.177211500T>ACA362322014NSD1c.2228T>A (p.Phe743Tyr)
n.612+7208T>A
n.2684T>A
c.2792T>A (p.Phe931Tyr)
n.2498T>A
c.3101T>A (p.Phe1034Tyr)
n.3248T>A
c.2294T>A (p.Phe765Tyr)
c.2681T>A (p.Phe894Tyr)
c.2045T>A (p.Phe682Tyr)
c.-895T>A (n.-895T>A)
5g.177211500T>CCA362322010NSD1c.2228T>C (p.Phe743Ser)
n.612+7208T>C
n.2684T>C
c.2792T>C (p.Phe931Ser)
n.2498T>C
c.3101T>C (p.Phe1034Ser)
n.3248T>C
c.2294T>C (p.Phe765Ser)
c.2681T>C (p.Phe894Ser)
c.2045T>C (p.Phe682Ser)
c.-895T>C (n.-895T>C)
5g.177211500T>GCA362322012NSD1c.2228T>G (p.Phe743Cys)
n.612+7208T>G
n.2684T>G
c.2792T>G (p.Phe931Cys)
n.2498T>G
c.3101T>G (p.Phe1034Cys)
n.3248T>G
c.2294T>G (p.Phe765Cys)
c.2681T>G (p.Phe894Cys)
c.2045T>G (p.Phe682Cys)
c.-895T>G (n.-895T>G)
5g.177211501T>ACA362322016NSD1c.2229T>A (p.Phe743Leu)
n.612+7209T>A
n.2685T>A
c.2793T>A (p.Phe931Leu)
n.2499T>A
c.3102T>A (p.Phe1034Leu)
n.3249T>A
c.2295T>A (p.Phe765Leu)
c.2682T>A (p.Phe894Leu)
c.2046T>A (p.Phe682Leu)
c.-894T>A (n.-894T>A)
5g.177211501T>CCA447960870NSD1c.2229T>C (p.Phe743=)
n.612+7209T>C
n.2685T>C
c.2793T>C (p.Phe931=)
n.2499T>C
c.3102T>C (p.Phe1034=)
n.3249T>C
c.2295T>C (p.Phe765=)
c.2682T>C (p.Phe894=)
c.2046T>C (p.Phe682=)
c.-894T>C (n.-894T>C)
5g.177211501T>GCA362322018NSD1c.2229T>G (p.Phe743Leu)
n.612+7209T>G
n.2685T>G
c.2793T>G (p.Phe931Leu)
n.2499T>G
c.3102T>G (p.Phe1034Leu)
n.3249T>G
c.2295T>G (p.Phe765Leu)
c.2682T>G (p.Phe894Leu)
c.2046T>G (p.Phe682Leu)
c.-894T>G (n.-894T>G)
5g.177211502T>ACA362322021NSD1c.2230T>A (p.Ser744Thr)
n.612+7210T>A
n.2686T>A
c.2794T>A (p.Ser932Thr)
n.2500T>A
c.3103T>A (p.Ser1035Thr)
n.3250T>A
c.2296T>A (p.Ser766Thr)
c.2683T>A (p.Ser895Thr)
c.2047T>A (p.Ser683Thr)
c.-893T>A (n.-893T>A)
5g.177211502T>CCA362322022NSD1c.2230T>C (p.Ser744Pro)
n.612+7210T>C
n.2686T>C
c.2794T>C (p.Ser932Pro)
n.2500T>C
c.3103T>C (p.Ser1035Pro)
n.3250T>C
c.2296T>C (p.Ser766Pro)
c.2683T>C (p.Ser895Pro)
c.2047T>C (p.Ser683Pro)
c.-893T>C (n.-893T>C)
5g.177211502T>GCA362322025NSD1c.2230T>G (p.Ser744Ala)
n.612+7210T>G
n.2686T>G
c.2794T>G (p.Ser932Ala)
n.2500T>G
c.3103T>G (p.Ser1035Ala)
n.3250T>G
c.2296T>G (p.Ser766Ala)
c.2683T>G (p.Ser895Ala)
c.2047T>G (p.Ser683Ala)
c.-893T>G (n.-893T>G)
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

Number of alleles fetched