Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177211410A= | CA1603477701 | NSD1 | c.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=) | |
5 | g.177211410A>C | CA362321566 | NSD1 | c.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) | |
5 | g.177211410A>G | CA362321571 | NSD1 | c.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 |
5 | g.177211410A>T | CA362321568 | NSD1 | c.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) | |
5 | g.177211411C>A | CA3577357 | NSD1 | c.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 |
5 | g.177211411C= | CA1603477704 | NSD1 | c.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=) | |
5 | g.177211411C>G | CA362321574 | NSD1 | c.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 |
5 | g.177211411C>T | CA447960633 | NSD1 | c.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 |
5 | g.177211412C>A | CA362321577 | NSD1 | c.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 |
5 | g.177211412C= | CA1603477708 | NSD1 | c.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=) | |
5 | g.177211412C>G | CA362321578 | NSD1 | c.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) | |
5 | g.177211412C>T | CA362321580 | NSD1 | c.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 |
5 | g.177211413T>A | CA362321586 | NSD1 | c.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) | |
5 | g.177211413T>C | CA362321584 | NSD1 | c.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) | |
5 | g.177211413T>G | CA362321582 | NSD1 | c.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 |
5 | g.177211413T= | CA1603477713 | NSD1 | c.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=) | |
5 | g.177211414C>A | CA447960644 | NSD1 | c.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) | |
5 | g.177211414C>G | CA447960642 | NSD1 | c.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 |
5 | g.177211414C>T | CA447960641 | NSD1 | c.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 |
5 | g.177211416del | CA2573052477 | NSD1 | c.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 |
5 | g.177211415C>A | CA362321588 | NSD1 | c.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) | |
5 | g.177211415C= | CA1603477720 | NSD1 | c.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=) | |
5 | g.177211415C>G | CA3577358 | NSD1 | c.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 |
5 | g.177211415C>T | CA3577359 | NSD1 | c.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 |
5 | g.177211416C>A | CA362321594 | NSD1 | c.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 |
5 | g.177211416C= | CA1603477727 | NSD1 | c.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=) | |
5 | g.177211416C>G | CA362321596 | NSD1 | c.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) | |
5 | g.177211416C>T | CA3577360 | NSD1 | c.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 |
5 | g.177211417T>A | CA447960656 | NSD1 | c.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 |
5 | g.177211417T>C | CA447960653 | NSD1 | c.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) | |
5 | g.177211417T>G | CA447960651 | NSD1 | c.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) | |
5 | g.177211418G>A | CA362321602 | NSD1 | c.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) | |
5 | g.177211418G>C | CA362321606 | NSD1 | c.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 |
5 | g.177211418G>T | CA362321604 | NSD1 | c.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) | |
5 | g.177211419C>A | CA362321609 | NSD1 | c.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) | |
5 | g.177211419C= | CA1603477732 | NSD1 | c.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=) | |
5 | g.177211419C>G | CA362321611 | NSD1 | c.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) | |
5 | g.177211419C>T | CA3577361 | NSD1 | c.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 |
5 | g.177211420T>A | CA447960660 | NSD1 | c.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) | |
5 | g.177211420T>C | CA3577362 | NSD1 | c.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 |
5 | g.177211420T>G | CA447960666 | NSD1 | c.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) | |
5 | g.177211420T= | CA1603477738 | NSD1 | c.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=) | |
5 | g.177211421T>A | CA362321616 | NSD1 | c.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) | |
5 | g.177211421T>C | CA362321618 | NSD1 | c.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) | |
5 | g.177211421T>G | CA362321620 | NSD1 | c.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) | |
5 | g.177211422C>A | CA362321623 | NSD1 | c.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) | |
5 | g.177211422C>G | CA362321624 | NSD1 | c.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) | |
5 | g.177211422C>T | CA362321626 | NSD1 | c.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 |
5 | g.177211423T>A | CA447960670 | NSD1 | c.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) | |
5 | g.177211423T>C | CA447960672 | NSD1 | c.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) | |
5 | g.177211423T>G | CA447960674 | NSD1 | c.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) | |
5 | g.177211424G>A | CA362321629 | NSD1 | c.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) | |
5 | g.177211424G>C | CA362321633 | NSD1 | c.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) | |
5 | g.177211424G>T | CA362321631 | NSD1 | c.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) | |
5 | g.177211425G>A | CA362321636 | NSD1 | c.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) | |
5 | g.177211425G>C | CA362321641 | NSD1 | c.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) | |
5 | g.177211425G>T | CA362321638 | NSD1 | c.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) | |
5 | g.177211426T>A | CA447960683 | NSD1 | c.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) | |
5 | g.177211426T>C | CA447960684 | NSD1 | c.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) | |
5 | g.177211426T>G | CA447960685 | NSD1 | c.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) | |
5 | g.177211427A>C | CA362321644 | NSD1 | c.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) | |
5 | g.177211427A>G | CA362321648 | NSD1 | c.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) | |
5 | g.177211427A>T | CA362321646 | NSD1 | c.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) | |
5 | g.177211430del | CA2573139463 | NSD1 | c.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 |
5 | g.177211428A= | CA1603477756 | NSD1 | c.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=) | |
5 | g.177211428A>C | CA362321651 | NSD1 | c.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) | |
5 | g.177211428A>G | CA362321653 | NSD1 | c.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 |
5 | g.177211428A>T | CA3577363 | NSD1 | c.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 |
5 | g.177211429A= | CA1603477766 | NSD1 | c.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=) | |
5 | g.177211429A>C | CA362321656 | NSD1 | c.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) | |
5 | g.177211429A>G | CA447960691 | NSD1 | c.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 |
5 | g.177211429A>T | CA362321658 | NSD1 | c.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) | |
5 | g.177211430A>C | CA362321661 | NSD1 | c.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) | |
5 | g.177211430A>G | CA362321663 | NSD1 | c.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) | |
5 | g.177211430A>T | CA362321665 | NSD1 | c.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) | |
5 | g.177211431G>A | CA3577364 | NSD1 | c.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 |
5 | g.177211431G>C | CA362321669 | NSD1 | c.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 |
5 | g.177211431G= | CA1603477776 | NSD1 | c.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=) | |
5 | g.177211431G>T | CA362321671 | NSD1 | c.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) | |
5 | g.177211432T>A | CA362321674 | NSD1 | c.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 |
5 | g.177211432T>C | CA447960696 | NSD1 | c.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) | |
5 | g.177211432T>G | CA362321676 | NSD1 | c.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) | |
5 | g.177211433C>A | CA362321682 | NSD1 | c.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) | |
5 | g.177211433C= | CA1603477779 | NSD1 | c.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=) | |
5 | g.177211433C>G | CA362321679 | NSD1 | c.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 |
5 | g.177211433C>T | CA3577365 | NSD1 | c.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 |
5 | g.177211434G>A | CA3577366 | NSD1 | c.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 |
5 | g.177211434G>C | CA362321687 | NSD1 | c.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 |
5 | g.177211434G= | CA1603477784 | NSD1 | c.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=) | |
5 | g.177211434G>T | CA362321689 | NSD1 | c.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 |
5 | g.177211435_177211453dup | CA658822924 | NSD1 | c.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 |
5 | g.177211435T>A | CA447960702 | NSD1 | c.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) | |
5 | g.177211435T>C | CA447960704 | NSD1 | c.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) | |
5 | g.177211435T>G | CA447960705 | NSD1 | c.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) | |
5 | g.177211436T>A | CA362321692 | NSD1 | c.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) | |
5 | g.177211436T>C | CA362321695 | NSD1 | c.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) | |
5 | g.177211436T>G | CA362321696 | NSD1 | c.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) | |
5 | g.177211437C>A | CA362321699 | NSD1 | c.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) | |
5 | g.177211437C= | CA1603477794 | NSD1 | c.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=) | |
5 | g.177211437C>G | CA362321701 | NSD1 | c.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 |
5 | g.177211437C>T | CA132830906 | NSD1 | c.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 |
5 | g.177211438A= | CA1603477817 | NSD1 | c.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=) | |
5 | g.177211438A>C | CA447960710 | NSD1 | c.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) | |
5 | g.177211438A>G | CA447960711 | NSD1 | c.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 |
5 | g.177211438A>T | CA447960713 | NSD1 | c.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) | |
5 | g.177211439G>A | CA362321705 | NSD1 | c.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) | |
5 | g.177211439G>C | CA362321707 | NSD1 | c.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) | |
5 | g.177211439G>T | CA362321709 | NSD1 | c.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) | |
5 | g.177211440A= | CA1603477821 | NSD1 | c.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=) | |
5 | g.177211440A>C | CA362321713 | NSD1 | c.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) | |
5 | g.177211440A>G | CA362321716 | NSD1 | c.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) | |
5 | g.177211440A>T | CA132830907 | NSD1 | c.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 |
5 | g.177211441C>A | CA362321719 | NSD1 | c.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 |
5 | g.177211441C= | CA1603477825 | NSD1 | c.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=) | |
5 | g.177211441C>G | CA362321721 | NSD1 | c.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) | |
5 | g.177211441C>T | CA447960723 | NSD1 | c.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 |
5 | g.177211441_177211443delinsCTG | CA1603477824 | NSD1 | c.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) | |
5 | g.177211442T>A | CA362321724 | NSD1 | c.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) | |
5 | g.177211442T>C | CA362321726 | NSD1 | c.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) | |
5 | g.177211442T>G | CA362321727 | NSD1 | c.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) | |
5 | g.177211445_177211446del | CA294838 | NSD1 | c.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 |
5 | g.177211443G>A | CA362321729 | NSD1 | c.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) | |
5 | g.177211443G>C | CA362321732 | NSD1 | c.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 |
5 | g.177211443G>T | CA362321734 | NSD1 | c.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) | |
5 | g.177211444T>A | CA362321735 | NSD1 | c.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) | |
5 | g.177211444T>C | CA447960740 | NSD1 | c.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) | |
5 | g.177211444T>G | CA362321736 | NSD1 | c.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) | |
5 | g.177211445G>A | CA362321739 | NSD1 | c.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) | |
5 | g.177211445G>C | CA362321738 | NSD1 | c.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) | |
5 | g.177211445G>T | CA362321737 | NSD1 | c.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) | |
5 | g.177211446T>A | CA362321740 | NSD1 | c.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) | |
5 | g.177211446T>C | CA362321741 | NSD1 | c.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) | |
5 | g.177211446T>G | CA362321742 | NSD1 | c.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) | |
5 | g.177211447del | CA2711100084 | NSD1 | c.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 |
5 | g.177211447T>A | CA447960741 | NSD1 | c.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 |
5 | g.177211447T>C | CA447960743 | NSD1 | c.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) | |
5 | g.177211447T>G | CA447960742 | NSD1 | c.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) | |
5 | g.177211447T= | CA1603477834 | NSD1 | c.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=) | |
5 | g.177211448A= | CA1603477841 | NSD1 | c.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=) | |
5 | g.177211448A>C | CA362321743 | NSD1 | c.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) | |
5 | g.177211448A>G | CA362321744 | NSD1 | c.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) | |
5 | g.177211448A>T | CA362321745 | NSD1 | c.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 |
5 | g.177211449C>A | CA362321748 | NSD1 | c.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) | |
5 | g.177211449C= | CA1603477846 | NSD1 | c.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=) | |
5 | g.177211449C>G | CA362321750 | NSD1 | c.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 |
5 | g.177211449C>T | CA362321752 | NSD1 | c.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 |
5 | g.177211450T>A | CA447960750 | NSD1 | c.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) | |
5 | g.177211450T>C | CA447960751 | NSD1 | c.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 |
5 | g.177211450T>G | CA447960753 | NSD1 | c.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) | |
5 | g.177211450T= | CA1603477858 | NSD1 | c.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=) | |
5 | g.177211451A>C | CA447960756 | NSD1 | c.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) | |
5 | g.177211451A>G | CA362321755 | NSD1 | c.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) | |
5 | g.177211451A>T | CA362321757 | NSD1 | c.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) | |
5 | g.177211452G>A | CA362321762 | NSD1 | c.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) | |
5 | g.177211452G>C | CA362321764 | NSD1 | c.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) | |
5 | g.177211452G>T | CA362321760 | NSD1 | c.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) | |
5 | g.177211453G>A | CA447960760 | NSD1 | c.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) | |
5 | g.177211453G>C | CA362321769 | NSD1 | c.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 |
5 | g.177211453G>T | CA362321767 | NSD1 | c.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) | |
5 | g.177211454C>A | CA362321771 | NSD1 | c.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 |
5 | g.177211454C= | CA1603477865 | NSD1 | c.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=) | |
5 | g.177211454C>G | CA362321773 | NSD1 | c.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 |
5 | g.177211454C>T | CA362321775 | NSD1 | c.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 |
5 | g.177211455G>A | CA3577367 | NSD1 | c.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 |
5 | g.177211455G>C | CA362321779 | NSD1 | c.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 |
5 | g.177211455G= | CA1603477869 | NSD1 | c.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=) | |
5 | g.177211455G>T | CA362321782 | NSD1 | c.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) | |
5 | g.177211456C>A | CA447960767 | NSD1 | c.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 |
5 | g.177211456C= | CA1603477879 | NSD1 | c.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=) | |
5 | g.177211456C>G | CA447960768 | NSD1 | c.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) | |
5 | g.177211456C>T | CA447960769 | NSD1 | c.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 |
5 | g.177211457A>C | CA362321784 | NSD1 | c.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) | |
5 | g.177211457A>G | CA362321786 | NSD1 | c.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 |
5 | g.177211457A>T | CA362321788 | NSD1 | c.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) | |
5 | g.177211458A= | CA1603477881 | NSD1 | c.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=) | |
5 | g.177211458A>C | CA362321792 | NSD1 | c.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) | |
5 | g.177211458A>G | CA3577368 | NSD1 | c.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 |
5 | g.177211458A>T | CA362321795 | NSD1 | c.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 |
5 | g.177211459C>A | CA362321798 | NSD1 | c.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 |
5 | g.177211459C>G | CA362321800 | NSD1 | c.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 |
5 | g.177211459C>T | CA447960776 | NSD1 | c.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) | |
5 | g.177211460T>A | CA362321803 | NSD1 | c.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) | |
5 | g.177211460T>C | CA362321804 | NSD1 | c.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) | |
5 | g.177211460T>G | CA362321806 | NSD1 | c.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) | |
5 | g.177211462_177211463del | CA2580614804 | NSD1 | c.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 |
5 | g.177211461del | CA2695202824 | NSD1 | c.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) | |
5 | g.177211461G>A | CA362321809 | NSD1 | c.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 |
5 | g.177211461G>C | CA362321811 | NSD1 | c.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) | |
5 | g.177211461G>T | CA362321813 | NSD1 | c.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) | |
5 | g.177211462T>A | CA362321816 | NSD1 | c.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) | |
5 | g.177211462T>C | CA447960786 | NSD1 | c.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) | |
5 | g.177211462T>G | CA362321818 | NSD1 | c.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) | |
5 | g.177211463G>A | CA362321821 | NSD1 | c.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) | |
5 | g.177211463G>C | CA362321822 | NSD1 | c.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) | |
5 | g.177211463G>T | CA362321824 | NSD1 | c.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) | |
5 | g.177211464G>A | CA362321830 | NSD1 | c.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 |
5 | g.177211464G>C | CA362321833 | NSD1 | c.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) | |
5 | g.177211464G>T | CA362321828 | NSD1 | c.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) | |
5 | g.177211465A>C | CA447960792 | NSD1 | c.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) | |
5 | g.177211465A>G | CA447960795 | NSD1 | c.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) | |
5 | g.177211465A>T | CA447960797 | NSD1 | c.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) | |
5 | g.177211466C>A | CA447960798 | NSD1 | c.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 |
5 | g.177211466C= | CA1603477895 | NSD1 | c.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=) | |
5 | g.177211466C>G | CA362321836 | NSD1 | c.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) | |
5 | g.177211466C>T | CA294839 | NSD1 | c.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 |
5 | g.177211467G>A | CA3577369 | NSD1 | c.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 |
5 | g.177211467G>C | CA362321842 | NSD1 | c.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 |
5 | g.177211467G= | CA1603477914 | NSD1 | c.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=) | |
5 | g.177211467G>T | CA3577370 | NSD1 | c.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 |
5 | g.177211468A= | CA1603477921 | NSD1 | c.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=) | |
5 | g.177211468A>C | CA447960802 | NSD1 | c.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) | |
5 | g.177211468A>G | CA447960804 | NSD1 | c.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) | |
5 | g.177211468A>T | CA3577371 | NSD1 | c.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 |
5 | g.177211469T>A | CA362321849 | NSD1 | c.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 |
5 | g.177211469T>C | CA362321851 | NSD1 | c.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) | |
5 | g.177211469T>G | CA362321853 | NSD1 | c.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) | |
5 | g.177211470C>A | CA362321856 | NSD1 | c.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 |
5 | g.177211470C>G | CA362321858 | NSD1 | c.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) | |
5 | g.177211470C>T | CA362321861 | NSD1 | c.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) | |
5 | g.177211471A>C | CA447960811 | NSD1 | c.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) | |
5 | g.177211471A>G | CA447960812 | NSD1 | c.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 |
5 | g.177211471A>T | CA447960813 | NSD1 | c.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) | |
5 | g.177211472A>C | CA362321866 | NSD1 | c.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) | |
5 | g.177211472A>G | CA362321867 | NSD1 | c.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) | |
5 | g.177211472A>T | CA362321864 | NSD1 | c.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) | |
5 | g.177211473A>C | CA362321870 | NSD1 | c.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) | |
5 | g.177211473A>G | CA362321872 | NSD1 | c.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) | |
5 | g.177211473A>T | CA362321875 | NSD1 | c.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) | |
5 | g.177211474G>A | CA447960818 | NSD1 | c.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 |
5 | g.177211474G>C | CA362321878 | NSD1 | c.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) | |
5 | g.177211474G= | CA1603477926 | NSD1 | c.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=) | |
5 | g.177211474G>T | CA362321880 | NSD1 | c.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) | |
5 | g.177211475C>A | CA362321888 | NSD1 | c.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 |
5 | g.177211475C>G | CA362321886 | NSD1 | c.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 |
5 | g.177211475C>T | CA362321884 | NSD1 | c.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 |
5 | g.177211476C>A | CA362321891 | NSD1 | c.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) | |
5 | g.177211476C>G | CA362321893 | NSD1 | c.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) | |
5 | g.177211476C>T | CA362321894 | NSD1 | c.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) | |
5 | g.177211477_177211479del | CA2578494650 | NSD1 | c.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) | |
5 | g.177211477T>A | CA447960821 | NSD1 | c.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 |
5 | g.177211477T>C | CA447960822 | NSD1 | c.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) | |
5 | g.177211477T>G | CA447960823 | NSD1 | c.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) | |
5 | g.177211478T>A | CA362321898 | NSD1 | c.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) | |
5 | g.177211478T>C | CA362321899 | NSD1 | c.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) | |
5 | g.177211478T>G | CA3577372 | NSD1 | c.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 |
5 | g.177211478T= | CA1603477931 | NSD1 | c.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=) | |
5 | g.177211479C>A | CA362321907 | NSD1 | c.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) | |
5 | g.177211479C>G | CA362321905 | NSD1 | c.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 |
5 | g.177211479C>T | CA362321903 | NSD1 | c.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) | |
5 | g.177211480A= | CA1603477937 | NSD1 | c.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=) | |
5 | g.177211480A>C | CA447960829 | NSD1 | c.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) | |
5 | g.177211480A>G | CA447960831 | NSD1 | c.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 |
5 | g.177211480A>T | CA447960832 | NSD1 | c.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 |
5 | g.177211481T>A | CA362321911 | NSD1 | c.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) | |
5 | g.177211481T>C | CA362321915 | NSD1 | c.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) | |
5 | g.177211481T>G | CA362321913 | NSD1 | c.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) | |
5 | g.177211482C>A | CA362321918 | NSD1 | c.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 |
5 | g.177211482C>G | CA362321922 | NSD1 | c.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 |
5 | g.177211482C>T | CA362321920 | NSD1 | c.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) | |
5 | g.177211483C>A | CA447960838 | NSD1 | c.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 |
5 | g.177211483C>G | CA447960834 | NSD1 | c.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) | |
5 | g.177211483C>T | CA447960837 | NSD1 | c.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) | |
5 | g.177211484A>C | CA362321924 | NSD1 | c.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 |
5 | g.177211484A>G | CA362321926 | NSD1 | c.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) | |
5 | g.177211484A>T | CA362321928 | NSD1 | c.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) | |
5 | g.177211485A>C | CA362321930 | NSD1 | c.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) | |
5 | g.177211485A>G | CA362321931 | NSD1 | c.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) | |
5 | g.177211485A>T | CA362321933 | NSD1 | c.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) | |
5 | g.177211486A= | CA1603477941 | NSD1 | c.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=) | |
5 | g.177211486A>C | CA362321936 | NSD1 | c.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 |
5 | g.177211486A>G | CA447960841 | NSD1 | c.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) | |
5 | g.177211486A>T | CA362321938 | NSD1 | c.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) | |
5 | g.177211487T>A | CA362321942 | NSD1 | c.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) | |
5 | g.177211487T>C | CA223664 | NSD1 | c.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 |
5 | g.177211487T>G | CA362321945 | NSD1 | c.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) | |
5 | g.177211487T= | CA1603477945 | NSD1 | c.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=) | |
5 | g.177211488T>A | CA362321949 | NSD1 | c.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) | |
5 | g.177211488T>C | CA172795 | NSD1 | c.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 |
5 | g.177211488T>G | CA362321947 | NSD1 | c.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) | |
5 | g.177211488T= | CA1603477950 | NSD1 | c.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=) | |
5 | g.177211488_177211489delinsCT | CA2580074127 | NSD1 | c.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 |
5 | g.177211489G>A | CA132830985 | NSD1 | c.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 |
5 | g.177211489G>C | CA362321955 | NSD1 | c.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 |
5 | g.177211489G= | CA1603477953 | NSD1 | c.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=) | |
5 | g.177211489G>T | CA3577373 | NSD1 | c.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 |
5 | g.177211490C>A | CA447960849 | NSD1 | c.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) | |
5 | g.177211490C= | CA1603477969 | NSD1 | c.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=) | |
5 | g.177211490C>G | CA362321958 | NSD1 | c.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 |
5 | g.177211490C>T | CA294842 | NSD1 | c.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 |
5 | g.177211491G>A | CA3577374 | NSD1 | c.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 |
5 | g.177211491G>C | CA362321964 | NSD1 | c.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 |
5 | g.177211491G= | CA1603477971 | NSD1 | c.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=) | |
5 | g.177211491G>T | CA362321966 | NSD1 | c.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) | |
5 | g.177211492A>C | CA447960852 | NSD1 | c.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) | |
5 | g.177211492A>G | CA447960853 | NSD1 | c.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) | |
5 | g.177211492A>T | CA447960854 | NSD1 | c.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) | |
5 | g.177211493G>A | CA362321969 | NSD1 | c.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 |
5 | g.177211493G>C | CA362321971 | NSD1 | c.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) | |
5 | g.177211493G= | CA1603477975 | NSD1 | c.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=) | |
5 | g.177211493G>T | CA362321974 | NSD1 | c.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) | |
5 | g.177211494A>C | CA362321981 | NSD1 | c.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) | |
5 | g.177211494A>G | CA362321979 | NSD1 | c.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 |
5 | g.177211494A>T | CA362321977 | NSD1 | c.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 |
5 | g.177211495T>A | CA362321983 | NSD1 | c.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) | |
5 | g.177211495T>C | CA447960859 | NSD1 | c.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) | |
5 | g.177211495T>G | CA362321985 | NSD1 | c.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) | |
5 | g.177211496G>A | CA362321987 | NSD1 | c.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 |
5 | g.177211496G>C | CA362321989 | NSD1 | c.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) | |
5 | g.177211496G>T | CA362321991 | NSD1 | c.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) | |
5 | g.177211497C>A | CA362321995 | NSD1 | c.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) | |
5 | g.177211497C= | CA1603477983 | NSD1 | c.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=) | |
5 | g.177211497C>G | CA362321997 | NSD1 | c.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 |
5 | g.177211497C>T | CA3577375 | NSD1 | c.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 |
5 | g.177211498T>A | CA447960865 | NSD1 | c.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) | |
5 | g.177211498T>C | CA3577376 | NSD1 | c.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 |
5 | g.177211498T>G | CA447960867 | NSD1 | c.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 |
5 | g.177211498T= | CA1603477988 | NSD1 | c.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=) | |
5 | g.177211502del | CA2711100344 | NSD1 | c.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 |
5 | g.177211499T>A | CA362322003 | NSD1 | c.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) | |
5 | g.177211499T>C | CA362322005 | NSD1 | c.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) | |
5 | g.177211499T>G | CA362322007 | NSD1 | c.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 |
5 | g.177211500T>A | CA362322014 | NSD1 | c.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) | |
5 | g.177211500T>C | CA362322010 | NSD1 | c.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) | |
5 | g.177211500T>G | CA362322012 | NSD1 | c.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) | |
5 | g.177211501T>A | CA362322016 | NSD1 | c.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) | |
5 | g.177211501T>C | CA447960870 | NSD1 | c.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) | |
5 | g.177211501T>G | CA362322018 | NSD1 | c.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) | |
5 | g.177211502T>A | CA362322021 | NSD1 | c.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) | |
5 | g.177211502T>C | CA362322022 | NSD1 | c.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) | |
5 | g.177211502T>G | CA362322025 | NSD1 | c.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) | |
5 | g.177211503C>A | CA362322028 | NSD1 | c.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 |
5 | g.177211503C= | CA1603477990 | NSD1 | c.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=) | |
5 | g.177211503C>G | CA362322030 | NSD1 | c.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) | |
5 | g.177211503C>T | CA3577377 | NSD1 | c.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 |
5 | g.177211504A>C | CA447960874 | NSD1 | c.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) | |
5 | g.177211504A>G | CA447960875 | NSD1 | c.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 |
5 | g.177211504A>T | CA447960877 | NSD1 | c.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) | |
5 | g.177211505G>A | CA362322035 | NSD1 | c.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) | |
5 | g.177211505G>C | CA248755 | NSD1 | c.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 |
5 | g.177211505G= | CA1603477997 | NSD1 | c.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=) | |
5 | g.177211505G>T | CA362322038 | NSD1 | c.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 |
5 | g.177211506C>A | CA362322045 | NSD1 | c.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 |
5 | g.177211506C= | CA1603477999 | NSD1 | c.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=) | |
5 | g.177211506C>G | CA362322042 | NSD1 | c.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 |
5 | g.177211506C>T | CA362322041 | NSD1 | c.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 |
5 | g.177211507C>A | CA447960880 | NSD1 | c.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 |
5 | g.177211507C= | CA1603478002 | NSD1 | c.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=) | |
5 | g.177211507C>G | CA447960882 | NSD1 | c.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 |
5 | g.177211507C>T | CA3577378 | NSD1 | c.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 |
5 | g.177211508C>A | CA362322054 | NSD1 | c.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) | |
5 | g.177211508C>G | CA362322050 | NSD1 | c.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) | |
5 | g.177211508C>T | CA362322052 | NSD1 | c.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 |
5 | g.177211509A= | CA1603478007 | NSD1 | c.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=) | |
5 | g.177211509A>C | CA362322058 | NSD1 | c.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) | |
5 | g.177211509A>G | CA246230 | NSD1 | c.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 |
5 | g.177211509A>T | CA362322061 | NSD1 | c.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) | |
5 | g.177211510A= | CA1603478010 | NSD1 | c.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=) | |
5 | g.177211510A>C | CA362322069 | NSD1 | c.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) | |
5 | g.177211510A>G | CA3577379 | NSD1 | c.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 |
5 | g.177211510A>T | CA362322065 | NSD1 | c.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 |