Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177211659_177211665del | CA319700 | NSD1 | c.2387_2393del (p.Lys796IlefsTer5) n.612+7367_612+7373del n.2843_2849del c.2951_2957del (p.Lys984IlefsTer5) n.2657_2663del c.3260_3266del (p.Lys1087IlefsTer5) n.3407_3413del c.2453_2459del (p.Lys818IlefsTer5) c.2840_2846del (p.Lys947IlefsTer5) c.2204_2210del (p.Lys735IlefsTer5) c.-736_-730del (n.-736_-730del) | ClinVar dbSNP |
5 | g.177211665A>C | CA362323256 | NSD1 | c.2393A>C (p.Asp798Ala) n.612+7373A>C n.2849A>C c.2957A>C (p.Asp986Ala) n.2663A>C c.3266A>C (p.Asp1089Ala) n.3413A>C c.2459A>C (p.Asp820Ala) c.2846A>C (p.Asp949Ala) c.2210A>C (p.Asp737Ala) c.-730A>C (n.-730A>C) | |
5 | g.177211665A>G | CA362323249 | NSD1 | c.2393A>G (p.Asp798Gly) n.612+7373A>G n.2849A>G c.2957A>G (p.Asp986Gly) n.2663A>G c.3266A>G (p.Asp1089Gly) n.3413A>G c.2459A>G (p.Asp820Gly) c.2846A>G (p.Asp949Gly) c.2210A>G (p.Asp737Gly) c.-730A>G (n.-730A>G) | |
5 | g.177211665A>T | CA362323252 | NSD1 | c.2393A>T (p.Asp798Val) n.612+7373A>T n.2849A>T c.2957A>T (p.Asp986Val) n.2663A>T c.3266A>T (p.Asp1089Val) n.3413A>T c.2459A>T (p.Asp820Val) c.2846A>T (p.Asp949Val) c.2210A>T (p.Asp737Val) c.-730A>T (n.-730A>T) | |
5 | g.177211666T>A | CA362323263 | NSD1 | c.2394T>A (p.Asp798Glu) n.612+7374T>A n.2850T>A c.2958T>A (p.Asp986Glu) n.2664T>A c.3267T>A (p.Asp1089Glu) n.3414T>A c.2460T>A (p.Asp820Glu) c.2847T>A (p.Asp949Glu) c.2211T>A (p.Asp737Glu) c.-729T>A (n.-729T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211666T>C | CA447960969 | NSD1 | c.2394T>C (p.Asp798=) n.612+7374T>C n.2850T>C c.2958T>C (p.Asp986=) n.2664T>C c.3267T>C (p.Asp1089=) n.3414T>C c.2460T>C (p.Asp820=) c.2847T>C (p.Asp949=) c.2211T>C (p.Asp737=) c.-729T>C (n.-729T>C) | |
5 | g.177211666T>G | CA362323277 | NSD1 | c.2394T>G (p.Asp798Glu) n.612+7374T>G n.2850T>G c.2958T>G (p.Asp986Glu) n.2664T>G c.3267T>G (p.Asp1089Glu) n.3414T>G c.2460T>G (p.Asp820Glu) c.2847T>G (p.Asp949Glu) c.2211T>G (p.Asp737Glu) c.-729T>G (n.-729T>G) | dbSNP |
5 | g.177211666T= | CA1603478596 | NSD1 | c.2394T= (p.Asp798=) n.612+7374T= n.2850T= c.2958T= (p.Asp986=) n.2664T= c.3267T= (p.Asp1089=) n.3414T= c.2460T= (p.Asp820=) c.2847T= (p.Asp949=) c.2211T= (p.Asp737=) c.-729T= (n.-729T=) | |
5 | g.177211667C>A | CA362323282 | NSD1 | c.2395C>A (p.Pro799Thr) n.612+7375C>A n.2851C>A c.2959C>A (p.Pro987Thr) n.2665C>A c.3268C>A (p.Pro1090Thr) n.3415C>A c.2461C>A (p.Pro821Thr) c.2848C>A (p.Pro950Thr) c.2212C>A (p.Pro738Thr) c.-728C>A (n.-728C>A) | dbSNP |
5 | g.177211667C= | CA1603478602 | NSD1 | c.2395C= (p.Pro799=) n.612+7375C= n.2851C= c.2959C= (p.Pro987=) n.2665C= c.3268C= (p.Pro1090=) n.3415C= c.2461C= (p.Pro821=) c.2848C= (p.Pro950=) c.2212C= (p.Pro738=) c.-728C= (n.-728C=) | |
5 | g.177211667C>G | CA362323286 | NSD1 | c.2395C>G (p.Pro799Ala) n.612+7375C>G n.2851C>G c.2959C>G (p.Pro987Ala) n.2665C>G c.3268C>G (p.Pro1090Ala) n.3415C>G c.2461C>G (p.Pro821Ala) c.2848C>G (p.Pro950Ala) c.2212C>G (p.Pro738Ala) c.-728C>G (n.-728C>G) | |
5 | g.177211667C>T | CA362323288 | NSD1 | c.2395C>T (p.Pro799Ser) n.612+7375C>T n.2851C>T c.2959C>T (p.Pro987Ser) n.2665C>T c.3268C>T (p.Pro1090Ser) n.3415C>T c.2461C>T (p.Pro821Ser) c.2848C>T (p.Pro950Ser) c.2212C>T (p.Pro738Ser) c.-728C>T (n.-728C>T) | |
5 | g.177211670dup | CA1139655897 | NSD1 | c.2398dup (p.Leu800ProfsTer10) n.612+7378dup n.2854dup c.2962dup (p.Leu988ProfsTer10) n.2668dup c.3271dup (p.Leu1091ProfsTer10) n.3418dup c.2464dup (p.Leu822ProfsTer10) c.2851dup (p.Leu951ProfsTer10) c.2215dup (p.Leu739ProfsTer10) c.-725dup (n.-725dup) | ClinVar dbSNP |
5 | g.177211668C>A | CA362323294 | NSD1 | c.2396C>A (p.Pro799His) n.612+7376C>A n.2852C>A c.2960C>A (p.Pro987His) n.2666C>A c.3269C>A (p.Pro1090His) n.3416C>A c.2462C>A (p.Pro821His) c.2849C>A (p.Pro950His) c.2213C>A (p.Pro738His) c.-727C>A (n.-727C>A) | |
5 | g.177211668C>G | CA362323297 | NSD1 | c.2396C>G (p.Pro799Arg) n.612+7376C>G n.2852C>G c.2960C>G (p.Pro987Arg) n.2666C>G c.3269C>G (p.Pro1090Arg) n.3416C>G c.2462C>G (p.Pro821Arg) c.2849C>G (p.Pro950Arg) c.2213C>G (p.Pro738Arg) c.-727C>G (n.-727C>G) | |
5 | g.177211668C>T | CA362323300 | NSD1 | c.2396C>T (p.Pro799Leu) n.612+7376C>T n.2852C>T c.2960C>T (p.Pro987Leu) n.2666C>T c.3269C>T (p.Pro1090Leu) n.3416C>T c.2462C>T (p.Pro821Leu) c.2849C>T (p.Pro950Leu) c.2213C>T (p.Pro738Leu) c.-727C>T (n.-727C>T) | dbSNP |
5 | g.177211669C>A | CA447960970 | NSD1 | c.2397C>A (p.Pro799=) n.612+7377C>A n.2853C>A c.2961C>A (p.Pro987=) n.2667C>A c.3270C>A (p.Pro1090=) n.3417C>A c.2463C>A (p.Pro821=) c.2850C>A (p.Pro950=) c.2214C>A (p.Pro738=) c.-726C>A (n.-726C>A) | dbSNP |
5 | g.177211669C>G | CA447960971 | NSD1 | c.2397C>G (p.Pro799=) n.612+7377C>G n.2853C>G c.2961C>G (p.Pro987=) n.2667C>G c.3270C>G (p.Pro1090=) n.3417C>G c.2463C>G (p.Pro821=) c.2850C>G (p.Pro950=) c.2214C>G (p.Pro738=) c.-726C>G (n.-726C>G) | |
5 | g.177211669C>T | CA447960972 | NSD1 | c.2397C>T (p.Pro799=) n.612+7377C>T n.2853C>T c.2961C>T (p.Pro987=) n.2667C>T c.3270C>T (p.Pro1090=) n.3417C>T c.2463C>T (p.Pro821=) c.2850C>T (p.Pro950=) c.2214C>T (p.Pro738=) c.-726C>T (n.-726C>T) | dbSNP |
5 | g.177211670C>A | CA172798 | NSD1 | c.2398C>A (p.Leu800Ile) n.612+7378C>A n.2854C>A c.2962C>A (p.Leu988Ile) n.2668C>A c.3271C>A (p.Leu1091Ile) n.3418C>A c.2464C>A (p.Leu822Ile) c.2851C>A (p.Leu951Ile) c.2215C>A (p.Leu739Ile) c.-725C>A (n.-725C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211670C= | CA1603478606 | NSD1 | c.2398C= (p.Leu800=) n.612+7378C= n.2854C= c.2962C= (p.Leu988=) n.2668C= c.3271C= (p.Leu1091=) n.3418C= c.2464C= (p.Leu822=) c.2851C= (p.Leu951=) c.2215C= (p.Leu739=) c.-725C= (n.-725C=) | |
5 | g.177211670C>G | CA362323308 | NSD1 | c.2398C>G (p.Leu800Val) n.612+7378C>G n.2854C>G c.2962C>G (p.Leu988Val) n.2668C>G c.3271C>G (p.Leu1091Val) n.3418C>G c.2464C>G (p.Leu822Val) c.2851C>G (p.Leu951Val) c.2215C>G (p.Leu739Val) c.-725C>G (n.-725C>G) | |
5 | g.177211670C>T | CA362323311 | NSD1 | c.2398C>T (p.Leu800Phe) n.612+7378C>T n.2854C>T c.2962C>T (p.Leu988Phe) n.2668C>T c.3271C>T (p.Leu1091Phe) n.3418C>T c.2464C>T (p.Leu822Phe) c.2851C>T (p.Leu951Phe) c.2215C>T (p.Leu739Phe) c.-725C>T (n.-725C>T) | dbSNP |
5 | g.177211671T>A | CA362323318 | NSD1 | c.2399T>A (p.Leu800His) n.612+7379T>A n.2855T>A c.2963T>A (p.Leu988His) n.2669T>A c.3272T>A (p.Leu1091His) n.3419T>A c.2465T>A (p.Leu822His) c.2852T>A (p.Leu951His) c.2216T>A (p.Leu739His) c.-724T>A (n.-724T>A) | |
5 | g.177211671T>C | CA362323323 | NSD1 | c.2399T>C (p.Leu800Pro) n.612+7379T>C n.2855T>C c.2963T>C (p.Leu988Pro) n.2669T>C c.3272T>C (p.Leu1091Pro) n.3419T>C c.2465T>C (p.Leu822Pro) c.2852T>C (p.Leu951Pro) c.2216T>C (p.Leu739Pro) c.-724T>C (n.-724T>C) | |
5 | g.177211671T>G | CA3577409 | NSD1 | c.2399T>G (p.Leu800Arg) n.612+7379T>G n.2855T>G c.2963T>G (p.Leu988Arg) n.2669T>G c.3272T>G (p.Leu1091Arg) n.3419T>G c.2465T>G (p.Leu822Arg) c.2852T>G (p.Leu951Arg) c.2216T>G (p.Leu739Arg) c.-724T>G (n.-724T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211671T= | CA1603478610 | NSD1 | c.2399T= (p.Leu800=) n.612+7379T= n.2855T= c.2963T= (p.Leu988=) n.2669T= c.3272T= (p.Leu1091=) n.3419T= c.2465T= (p.Leu822=) c.2852T= (p.Leu951=) c.2216T= (p.Leu739=) c.-724T= (n.-724T=) | |
5 | g.177211672del | CA2695202831 | NSD1 | c.2400del (p.Gln801ArgfsTer2) n.612+7380del n.2856del c.2964del (p.Gln989ArgfsTer2) n.2670del c.3273del (p.Gln1092ArgfsTer2) n.3420del c.2466del (p.Gln823ArgfsTer2) c.2853del (p.Gln952ArgfsTer2) c.2217del (p.Gln740ArgfsTer2) c.-723del (n.-723del) | |
5 | g.177211672T>A | CA447960973 | NSD1 | c.2400T>A (p.Leu800=) n.612+7380T>A n.2856T>A c.2964T>A (p.Leu988=) n.2670T>A c.3273T>A (p.Leu1091=) n.3420T>A c.2466T>A (p.Leu822=) c.2853T>A (p.Leu951=) c.2217T>A (p.Leu739=) c.-723T>A (n.-723T>A) | |
5 | g.177211672T>C | CA447960974 | NSD1 | c.2400T>C (p.Leu800=) n.612+7380T>C n.2856T>C c.2964T>C (p.Leu988=) n.2670T>C c.3273T>C (p.Leu1091=) n.3420T>C c.2466T>C (p.Leu822=) c.2853T>C (p.Leu951=) c.2217T>C (p.Leu739=) c.-723T>C (n.-723T>C) | |
5 | g.177211672T>G | CA447960975 | NSD1 | c.2400T>G (p.Leu800=) n.612+7380T>G n.2856T>G c.2964T>G (p.Leu988=) n.2670T>G c.3273T>G (p.Leu1091=) n.3420T>G c.2466T>G (p.Leu822=) c.2853T>G (p.Leu951=) c.2217T>G (p.Leu739=) c.-723T>G (n.-723T>G) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
5 | g.177211672T= | CA1603478615 | NSD1 | c.2400T= (p.Leu800=) n.612+7380T= n.2856T= c.2964T= (p.Leu988=) n.2670T= c.3273T= (p.Leu1091=) n.3420T= c.2466T= (p.Leu822=) c.2853T= (p.Leu951=) c.2217T= (p.Leu739=) c.-723T= (n.-723T=) | |
5 | g.177211673C>A | CA362323331 | NSD1 | c.2401C>A (p.Gln801Lys) n.612+7381C>A n.2857C>A c.2965C>A (p.Gln989Lys) n.2671C>A c.3274C>A (p.Gln1092Lys) n.3421C>A c.2467C>A (p.Gln823Lys) c.2854C>A (p.Gln952Lys) c.2218C>A (p.Gln740Lys) c.-722C>A (n.-722C>A) | |
5 | g.177211673C= | CA1603478628 | NSD1 | c.2401C= (p.Gln801=) n.612+7381C= n.2857C= c.2965C= (p.Gln989=) n.2671C= c.3274C= (p.Gln1092=) n.3421C= c.2467C= (p.Gln823=) c.2854C= (p.Gln952=) c.2218C= (p.Gln740=) c.-722C= (n.-722C=) | |
5 | g.177211673C>G | CA362323338 | NSD1 | c.2401C>G (p.Gln801Glu) n.612+7381C>G n.2857C>G c.2965C>G (p.Gln989Glu) n.2671C>G c.3274C>G (p.Gln1092Glu) n.3421C>G c.2467C>G (p.Gln823Glu) c.2854C>G (p.Gln952Glu) c.2218C>G (p.Gln740Glu) c.-722C>G (n.-722C>G) | |
5 | g.177211673C>T | CA362323333 | NSD1 | c.2401C>T (p.Gln801Ter) n.612+7381C>T n.2857C>T c.2965C>T (p.Gln989Ter) n.2671C>T c.3274C>T (p.Gln1092Ter) n.3421C>T c.2467C>T (p.Gln823Ter) c.2854C>T (p.Gln952Ter) c.2218C>T (p.Gln740Ter) c.-722C>T (n.-722C>T) | ClinVar dbSNP |
5 | g.177211674A>C | CA362323342 | NSD1 | c.2402A>C (p.Gln801Pro) n.612+7382A>C n.2858A>C c.2966A>C (p.Gln989Pro) n.2672A>C c.3275A>C (p.Gln1092Pro) n.3422A>C c.2468A>C (p.Gln823Pro) c.2855A>C (p.Gln952Pro) c.2219A>C (p.Gln740Pro) c.-721A>C (n.-721A>C) | |
5 | g.177211674A>G | CA362323345 | NSD1 | c.2402A>G (p.Gln801Arg) n.612+7382A>G n.2858A>G c.2966A>G (p.Gln989Arg) n.2672A>G c.3275A>G (p.Gln1092Arg) n.3422A>G c.2468A>G (p.Gln823Arg) c.2855A>G (p.Gln952Arg) c.2219A>G (p.Gln740Arg) c.-721A>G (n.-721A>G) | ClinVar |
5 | g.177211674A>T | CA362323348 | NSD1 | c.2402A>T (p.Gln801Leu) n.612+7382A>T n.2858A>T c.2966A>T (p.Gln989Leu) n.2672A>T c.3275A>T (p.Gln1092Leu) n.3422A>T c.2468A>T (p.Gln823Leu) c.2855A>T (p.Gln952Leu) c.2219A>T (p.Gln740Leu) c.-721A>T (n.-721A>T) | |
5 | g.177211675G>A | CA447960976 | NSD1 | c.2403G>A (p.Gln801=) n.612+7383G>A n.2859G>A c.2967G>A (p.Gln989=) n.2673G>A c.3276G>A (p.Gln1092=) n.3423G>A c.2469G>A (p.Gln823=) c.2856G>A (p.Gln952=) c.2220G>A (p.Gln740=) c.-720G>A (n.-720G>A) | |
5 | g.177211675G>C | CA362323351 | NSD1 | c.2403G>C (p.Gln801His) n.612+7383G>C n.2859G>C c.2967G>C (p.Gln989His) n.2673G>C c.3276G>C (p.Gln1092His) n.3423G>C c.2469G>C (p.Gln823His) c.2856G>C (p.Gln952His) c.2220G>C (p.Gln740His) c.-720G>C (n.-720G>C) | gnomAD v4 COSMIC COSMIC |
5 | g.177211675G>T | CA362323352 | NSD1 | c.2403G>T (p.Gln801His) n.612+7383G>T n.2859G>T c.2967G>T (p.Gln989His) n.2673G>T c.3276G>T (p.Gln1092His) n.3423G>T c.2469G>T (p.Gln823His) c.2856G>T (p.Gln952His) c.2220G>T (p.Gln740His) c.-720G>T (n.-720G>T) | |
5 | g.177211676A= | CA1603478633 | NSD1 | c.2404A= (p.Ile802=) n.612+7384A= n.2860A= c.2968A= (p.Ile990=) n.2674A= c.3277A= (p.Ile1093=) n.3424A= c.2470A= (p.Ile824=) c.2857A= (p.Ile953=) c.2221A= (p.Ile741=) c.-719A= (n.-719A=) | |
5 | g.177211676A>C | CA362323356 | NSD1 | c.2404A>C (p.Ile802Leu) n.612+7384A>C n.2860A>C c.2968A>C (p.Ile990Leu) n.2674A>C c.3277A>C (p.Ile1093Leu) n.3424A>C c.2470A>C (p.Ile824Leu) c.2857A>C (p.Ile953Leu) c.2221A>C (p.Ile741Leu) c.-719A>C (n.-719A>C) | ClinVar |
5 | g.177211676A>G | CA362323359 | NSD1 | c.2404A>G (p.Ile802Val) n.612+7384A>G n.2860A>G c.2968A>G (p.Ile990Val) n.2674A>G c.3277A>G (p.Ile1093Val) n.3424A>G c.2470A>G (p.Ile824Val) c.2857A>G (p.Ile953Val) c.2221A>G (p.Ile741Val) c.-719A>G (n.-719A>G) | dbSNP |
5 | g.177211676A>T | CA362323361 | NSD1 | c.2404A>T (p.Ile802Leu) n.612+7384A>T n.2860A>T c.2968A>T (p.Ile990Leu) n.2674A>T c.3277A>T (p.Ile1093Leu) n.3424A>T c.2470A>T (p.Ile824Leu) c.2857A>T (p.Ile953Leu) c.2221A>T (p.Ile741Leu) c.-719A>T (n.-719A>T) | |
5 | g.177211677T>A | CA362323369 | NSD1 | c.2405T>A (p.Ile802Lys) n.612+7385T>A n.2861T>A c.2969T>A (p.Ile990Lys) n.2675T>A c.3278T>A (p.Ile1093Lys) n.3425T>A c.2471T>A (p.Ile824Lys) c.2858T>A (p.Ile953Lys) c.2222T>A (p.Ile741Lys) c.-718T>A (n.-718T>A) | |
5 | g.177211677T>C | CA362323374 | NSD1 | c.2405T>C (p.Ile802Thr) n.612+7385T>C n.2861T>C c.2969T>C (p.Ile990Thr) n.2675T>C c.3278T>C (p.Ile1093Thr) n.3425T>C c.2471T>C (p.Ile824Thr) c.2858T>C (p.Ile953Thr) c.2222T>C (p.Ile741Thr) c.-718T>C (n.-718T>C) | |
5 | g.177211677T>G | CA362323378 | NSD1 | c.2405T>G (p.Ile802Arg) n.612+7385T>G n.2861T>G c.2969T>G (p.Ile990Arg) n.2675T>G c.3278T>G (p.Ile1093Arg) n.3425T>G c.2471T>G (p.Ile824Arg) c.2858T>G (p.Ile953Arg) c.2222T>G (p.Ile741Arg) c.-718T>G (n.-718T>G) | |
5 | g.177211678A>C | CA447960977 | NSD1 | c.2406A>C (p.Ile802=) n.612+7386A>C n.2862A>C c.2970A>C (p.Ile990=) n.2676A>C c.3279A>C (p.Ile1093=) n.3426A>C c.2472A>C (p.Ile824=) c.2859A>C (p.Ile953=) c.2223A>C (p.Ile741=) c.-717A>C (n.-717A>C) | |
5 | g.177211678A>G | CA362323380 | NSD1 | c.2406A>G (p.Ile802Met) n.612+7386A>G n.2862A>G c.2970A>G (p.Ile990Met) n.2676A>G c.3279A>G (p.Ile1093Met) n.3426A>G c.2472A>G (p.Ile824Met) c.2859A>G (p.Ile953Met) c.2223A>G (p.Ile741Met) c.-717A>G (n.-717A>G) | gnomAD v4 |
5 | g.177211678A>T | CA447960978 | NSD1 | c.2406A>T (p.Ile802=) n.612+7386A>T n.2862A>T c.2970A>T (p.Ile990=) n.2676A>T c.3279A>T (p.Ile1093=) n.3426A>T c.2472A>T (p.Ile824=) c.2859A>T (p.Ile953=) c.2223A>T (p.Ile741=) c.-717A>T (n.-717A>T) | |
5 | g.177211679dup | CA2695202833 | NSD1 | c.2407dup (p.Met803AsnfsTer7) n.612+7387dup n.2863dup c.2971dup (p.Met991AsnfsTer7) n.2677dup c.3280dup (p.Met1094AsnfsTer7) n.3427dup c.2473dup (p.Met825AsnfsTer7) c.2860dup (p.Met954AsnfsTer7) c.2224dup (p.Met742AsnfsTer7) c.-716dup (n.-716dup) | |
5 | g.177211679A>C | CA362323386 | NSD1 | c.2407A>C (p.Met803Leu) n.612+7387A>C n.2863A>C c.2971A>C (p.Met991Leu) n.2677A>C c.3280A>C (p.Met1094Leu) n.3427A>C c.2473A>C (p.Met825Leu) c.2860A>C (p.Met954Leu) c.2224A>C (p.Met742Leu) c.-716A>C (n.-716A>C) | |
5 | g.177211679A>G | CA362323391 | NSD1 | c.2407A>G (p.Met803Val) n.612+7387A>G n.2863A>G c.2971A>G (p.Met991Val) n.2677A>G c.3280A>G (p.Met1094Val) n.3427A>G c.2473A>G (p.Met825Val) c.2860A>G (p.Met954Val) c.2224A>G (p.Met742Val) c.-716A>G (n.-716A>G) | |
5 | g.177211679A>T | CA362323389 | NSD1 | c.2407A>T (p.Met803Leu) n.612+7387A>T n.2863A>T c.2971A>T (p.Met991Leu) n.2677A>T c.3280A>T (p.Met1094Leu) n.3427A>T c.2473A>T (p.Met825Leu) c.2860A>T (p.Met954Leu) c.2224A>T (p.Met742Leu) c.-716A>T (n.-716A>T) | |
5 | g.177211680T>A | CA362323396 | NSD1 | c.2408T>A (p.Met803Lys) n.612+7388T>A n.2864T>A c.2972T>A (p.Met991Lys) n.2678T>A c.3281T>A (p.Met1094Lys) n.3428T>A c.2474T>A (p.Met825Lys) c.2861T>A (p.Met954Lys) c.2225T>A (p.Met742Lys) c.-715T>A (n.-715T>A) | |
5 | g.177211680T>C | CA3577410 | NSD1 | c.2408T>C (p.Met803Thr) n.612+7388T>C n.2864T>C c.2972T>C (p.Met991Thr) n.2678T>C c.3281T>C (p.Met1094Thr) n.3428T>C c.2474T>C (p.Met825Thr) c.2861T>C (p.Met954Thr) c.2225T>C (p.Met742Thr) c.-715T>C (n.-715T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
5 | g.177211680T>G | CA362323401 | NSD1 | c.2408T>G (p.Met803Arg) n.612+7388T>G n.2864T>G c.2972T>G (p.Met991Arg) n.2678T>G c.3281T>G (p.Met1094Arg) n.3428T>G c.2474T>G (p.Met825Arg) c.2861T>G (p.Met954Arg) c.2225T>G (p.Met742Arg) c.-715T>G (n.-715T>G) | |
5 | g.177211680T= | CA1603478638 | NSD1 | c.2408T= (p.Met803=) n.612+7388T= n.2864T= c.2972T= (p.Met991=) n.2678T= c.3281T= (p.Met1094=) n.3428T= c.2474T= (p.Met825=) c.2861T= (p.Met954=) c.2225T= (p.Met742=) c.-715T= (n.-715T=) | |
5 | g.177211681G>A | CA132831250 | NSD1 | c.2409G>A (p.Met803Ile) n.612+7389G>A n.2865G>A c.2973G>A (p.Met991Ile) n.2679G>A c.3282G>A (p.Met1094Ile) n.3429G>A c.2475G>A (p.Met825Ile) c.2862G>A (p.Met954Ile) c.2226G>A (p.Met742Ile) c.-714G>A (n.-714G>A) | dbSNP gnomAD v4 |
5 | g.177211681G>C | CA362323408 | NSD1 | c.2409G>C (p.Met803Ile) n.612+7389G>C n.2865G>C c.2973G>C (p.Met991Ile) n.2679G>C c.3282G>C (p.Met1094Ile) n.3429G>C c.2475G>C (p.Met825Ile) c.2862G>C (p.Met954Ile) c.2226G>C (p.Met742Ile) c.-714G>C (n.-714G>C) | |
5 | g.177211681G= | CA1603478647 | NSD1 | c.2409G= (p.Met803=) n.612+7389G= n.2865G= c.2973G= (p.Met991=) n.2679G= c.3282G= (p.Met1094=) n.3429G= c.2475G= (p.Met825=) c.2862G= (p.Met954=) c.2226G= (p.Met742=) c.-714G= (n.-714G=) | |
5 | g.177211681G>T | CA362323411 | NSD1 | c.2409G>T (p.Met803Ile) n.612+7389G>T n.2865G>T c.2973G>T (p.Met991Ile) n.2679G>T c.3282G>T (p.Met1094Ile) n.3429G>T c.2475G>T (p.Met825Ile) c.2862G>T (p.Met954Ile) c.2226G>T (p.Met742Ile) c.-714G>T (n.-714G>T) | dbSNP |
5 | g.177211683del | CA2695202834 | NSD1 | c.2411del (p.Gly804AlafsTer3) n.612+7391del n.2867del c.2975del (p.Gly992AlafsTer3) n.2681del c.3284del (p.Gly1095AlafsTer3) n.3431del c.2477del (p.Gly826AlafsTer3) c.2864del (p.Gly955AlafsTer3) c.2228del (p.Gly743AlafsTer3) c.-712del (n.-712del) | |
5 | g.177211681_177211682insATT | CA2676687585 | NSD1 | c.2409_2410insATT (p.Met803_Gly804insIle) n.612+7389_612+7390insATT n.2865_2866insATT c.2973_2974insATT (p.Met991_Gly992insIle) n.2679_2680insATT c.3282_3283insATT (p.Met1094_Gly1095insIle) n.3429_3430insATT c.2475_2476insATT (p.Met825_Gly826insIle) c.2862_2863insATT (p.Met954_Gly955insIle) c.2226_2227insATT (p.Met742_Gly743insIle) c.-714_-713insATT (n.-714_-713insATT) | gnomAD v4 |
5 | g.177211682G>A | CA362323414 | NSD1 | c.2410G>A (p.Gly804Ser) n.612+7390G>A n.2866G>A c.2974G>A (p.Gly992Ser) n.2680G>A c.3283G>A (p.Gly1095Ser) n.3430G>A c.2476G>A (p.Gly826Ser) c.2863G>A (p.Gly955Ser) c.2227G>A (p.Gly743Ser) c.-713G>A (n.-713G>A) | gnomAD v4 |
5 | g.177211682G>C | CA362323417 | NSD1 | c.2410G>C (p.Gly804Arg) n.612+7390G>C n.2866G>C c.2974G>C (p.Gly992Arg) n.2680G>C c.3283G>C (p.Gly1095Arg) n.3430G>C c.2476G>C (p.Gly826Arg) c.2863G>C (p.Gly955Arg) c.2227G>C (p.Gly743Arg) c.-713G>C (n.-713G>C) | |
5 | g.177211682G>T | CA362323419 | NSD1 | c.2410G>T (p.Gly804Cys) n.612+7390G>T n.2866G>T c.2974G>T (p.Gly992Cys) n.2680G>T c.3283G>T (p.Gly1095Cys) n.3430G>T c.2476G>T (p.Gly826Cys) c.2863G>T (p.Gly955Cys) c.2227G>T (p.Gly743Cys) c.-713G>T (n.-713G>T) | |
5 | g.177211683G>A | CA362323426 | NSD1 | c.2411G>A (p.Gly804Asp) n.612+7391G>A n.2867G>A c.2975G>A (p.Gly992Asp) n.2681G>A c.3284G>A (p.Gly1095Asp) n.3431G>A c.2477G>A (p.Gly826Asp) c.2864G>A (p.Gly955Asp) c.2228G>A (p.Gly743Asp) c.-712G>A (n.-712G>A) | dbSNP gnomAD v4 |
5 | g.177211683G>C | CA362323427 | NSD1 | c.2411G>C (p.Gly804Ala) n.612+7391G>C n.2867G>C c.2975G>C (p.Gly992Ala) n.2681G>C c.3284G>C (p.Gly1095Ala) n.3431G>C c.2477G>C (p.Gly826Ala) c.2864G>C (p.Gly955Ala) c.2228G>C (p.Gly743Ala) c.-712G>C (n.-712G>C) | |
5 | g.177211683G= | CA1603478659 | NSD1 | c.2411G= (p.Gly804=) n.612+7391G= n.2867G= c.2975G= (p.Gly992=) n.2681G= c.3284G= (p.Gly1095=) n.3431G= c.2477G= (p.Gly826=) c.2864G= (p.Gly955=) c.2228G= (p.Gly743=) c.-712G= (n.-712G=) | |
5 | g.177211683G>T | CA362323425 | NSD1 | c.2411G>T (p.Gly804Val) n.612+7391G>T n.2867G>T c.2975G>T (p.Gly992Val) n.2681G>T c.3284G>T (p.Gly1095Val) n.3431G>T c.2477G>T (p.Gly826Val) c.2864G>T (p.Gly955Val) c.2228G>T (p.Gly743Val) c.-712G>T (n.-712G>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211684C>A | CA447960979 | NSD1 | c.2412C>A (p.Gly804=) n.612+7392C>A n.2868C>A c.2976C>A (p.Gly992=) n.2682C>A c.3285C>A (p.Gly1095=) n.3432C>A c.2478C>A (p.Gly826=) c.2865C>A (p.Gly955=) c.2229C>A (p.Gly743=) c.-711C>A (n.-711C>A) | |
5 | g.177211684C= | CA1603478664 | NSD1 | c.2412C= (p.Gly804=) n.612+7392C= n.2868C= c.2976C= (p.Gly992=) n.2682C= c.3285C= (p.Gly1095=) n.3432C= c.2478C= (p.Gly826=) c.2865C= (p.Gly955=) c.2229C= (p.Gly743=) c.-711C= (n.-711C=) | |
5 | g.177211684C>G | CA447960980 | NSD1 | c.2412C>G (p.Gly804=) n.612+7392C>G n.2868C>G c.2976C>G (p.Gly992=) n.2682C>G c.3285C>G (p.Gly1095=) n.3432C>G c.2478C>G (p.Gly826=) c.2865C>G (p.Gly955=) c.2229C>G (p.Gly743=) c.-711C>G (n.-711C>G) | |
5 | g.177211684C>T | CA447960981 | NSD1 | c.2412C>T (p.Gly804=) n.612+7392C>T n.2868C>T c.2976C>T (p.Gly992=) n.2682C>T c.3285C>T (p.Gly1095=) n.3432C>T c.2478C>T (p.Gly826=) c.2865C>T (p.Gly955=) c.2229C>T (p.Gly743=) c.-711C>T (n.-711C>T) | dbSNP gnomAD v4 |
5 | g.177211685C>A | CA362323428 | NSD1 | c.2413C>A (p.His805Asn) n.612+7393C>A n.2869C>A c.2977C>A (p.His993Asn) n.2683C>A c.3286C>A (p.His1096Asn) n.3433C>A c.2479C>A (p.His827Asn) c.2866C>A (p.His956Asn) c.2230C>A (p.His744Asn) c.-710C>A (n.-710C>A) | |
5 | g.177211685C= | CA1603478668 | NSD1 | c.2413C= (p.His805=) n.612+7393C= n.2869C= c.2977C= (p.His993=) n.2683C= c.3286C= (p.His1096=) n.3433C= c.2479C= (p.His827=) c.2866C= (p.His956=) c.2230C= (p.His744=) c.-710C= (n.-710C=) | |
5 | g.177211685C>G | CA362323429 | NSD1 | c.2413C>G (p.His805Asp) n.612+7393C>G n.2869C>G c.2977C>G (p.His993Asp) n.2683C>G c.3286C>G (p.His1096Asp) n.3433C>G c.2479C>G (p.His827Asp) c.2866C>G (p.His956Asp) c.2230C>G (p.His744Asp) c.-710C>G (n.-710C>G) | |
5 | g.177211685C>T | CA3577411 | NSD1 | c.2413C>T (p.His805Tyr) n.612+7393C>T n.2869C>T c.2977C>T (p.His993Tyr) n.2683C>T c.3286C>T (p.His1096Tyr) n.3433C>T c.2479C>T (p.His827Tyr) c.2866C>T (p.His956Tyr) c.2230C>T (p.His744Tyr) c.-710C>T (n.-710C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211686A>C | CA362323433 | NSD1 | c.2414A>C (p.His805Pro) n.612+7394A>C n.2870A>C c.2978A>C (p.His993Pro) n.2684A>C c.3287A>C (p.His1096Pro) n.3434A>C c.2480A>C (p.His827Pro) c.2867A>C (p.His956Pro) c.2231A>C (p.His744Pro) c.-709A>C (n.-709A>C) | |
5 | g.177211686A>G | CA362323437 | NSD1 | c.2414A>G (p.His805Arg) n.612+7394A>G n.2870A>G c.2978A>G (p.His993Arg) n.2684A>G c.3287A>G (p.His1096Arg) n.3434A>G c.2480A>G (p.His827Arg) c.2867A>G (p.His956Arg) c.2231A>G (p.His744Arg) c.-709A>G (n.-709A>G) | |
5 | g.177211686A>T | CA362323440 | NSD1 | c.2414A>T (p.His805Leu) n.612+7394A>T n.2870A>T c.2978A>T (p.His993Leu) n.2684A>T c.3287A>T (p.His1096Leu) n.3434A>T c.2480A>T (p.His827Leu) c.2867A>T (p.His956Leu) c.2231A>T (p.His744Leu) c.-709A>T (n.-709A>T) | |
5 | g.177211687C>A | CA362323441 | NSD1 | c.2415C>A (p.His805Gln) n.612+7395C>A n.2871C>A c.2979C>A (p.His993Gln) n.2685C>A c.3288C>A (p.His1096Gln) n.3435C>A c.2481C>A (p.His827Gln) c.2868C>A (p.His956Gln) c.2232C>A (p.His744Gln) c.-708C>A (n.-708C>A) | gnomAD v4 |
5 | g.177211687C= | CA1603478672 | NSD1 | c.2415C= (p.His805=) n.612+7395C= n.2871C= c.2979C= (p.His993=) n.2685C= c.3288C= (p.His1096=) n.3435C= c.2481C= (p.His827=) c.2868C= (p.His956=) c.2232C= (p.His744=) c.-708C= (n.-708C=) | |
5 | g.177211687C>G | CA362323442 | NSD1 | c.2415C>G (p.His805Gln) n.612+7395C>G n.2871C>G c.2979C>G (p.His993Gln) n.2685C>G c.3288C>G (p.His1096Gln) n.3435C>G c.2481C>G (p.His827Gln) c.2868C>G (p.His956Gln) c.2232C>G (p.His744Gln) c.-708C>G (n.-708C>G) | dbSNP |
5 | g.177211687C>T | CA447960984 | NSD1 | c.2415C>T (p.His805=) n.612+7395C>T n.2871C>T c.2979C>T (p.His993=) n.2685C>T c.3288C>T (p.His1096=) n.3435C>T c.2481C>T (p.His827=) c.2868C>T (p.His956=) c.2232C>T (p.His744=) c.-708C>T (n.-708C>T) | dbSNP |
5 | g.177211688T>A | CA362323444 | NSD1 | c.2416T>A (p.Leu806Ile) n.612+7396T>A n.2872T>A c.2980T>A (p.Leu994Ile) n.2686T>A c.3289T>A (p.Leu1097Ile) n.3436T>A c.2482T>A (p.Leu828Ile) c.2869T>A (p.Leu957Ile) c.2233T>A (p.Leu745Ile) c.-707T>A (n.-707T>A) | |
5 | g.177211688T>C | CA447960985 | NSD1 | c.2416T>C (p.Leu806=) n.612+7396T>C n.2872T>C c.2980T>C (p.Leu994=) n.2686T>C c.3289T>C (p.Leu1097=) n.3436T>C c.2482T>C (p.Leu828=) c.2869T>C (p.Leu957=) c.2233T>C (p.Leu745=) c.-707T>C (n.-707T>C) | gnomAD v4 |
5 | g.177211688T>G | CA362323446 | NSD1 | c.2416T>G (p.Leu806Val) n.612+7396T>G n.2872T>G c.2980T>G (p.Leu994Val) n.2686T>G c.3289T>G (p.Leu1097Val) n.3436T>G c.2482T>G (p.Leu828Val) c.2869T>G (p.Leu957Val) c.2233T>G (p.Leu745Val) c.-707T>G (n.-707T>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211688T= | CA1603478676 | NSD1 | c.2416T= (p.Leu806=) n.612+7396T= n.2872T= c.2980T= (p.Leu994=) n.2686T= c.3289T= (p.Leu1097=) n.3436T= c.2482T= (p.Leu828=) c.2869T= (p.Leu957=) c.2233T= (p.Leu745=) c.-707T= (n.-707T=) | |
5 | g.177211689T>A | CA362323449 | NSD1 | c.2417T>A (p.Leu806Ter) n.612+7397T>A n.2873T>A c.2981T>A (p.Leu994Ter) n.2687T>A c.3290T>A (p.Leu1097Ter) n.3437T>A c.2483T>A (p.Leu828Ter) c.2870T>A (p.Leu957Ter) c.2234T>A (p.Leu745Ter) c.-706T>A (n.-706T>A) | ClinVar dbSNP |
5 | g.177211689T>C | CA362323452 | NSD1 | c.2417T>C (p.Leu806Ser) n.612+7397T>C n.2873T>C c.2981T>C (p.Leu994Ser) n.2687T>C c.3290T>C (p.Leu1097Ser) n.3437T>C c.2483T>C (p.Leu828Ser) c.2870T>C (p.Leu957Ser) c.2234T>C (p.Leu745Ser) c.-706T>C (n.-706T>C) | |
5 | g.177211689T>G | CA362323454 | NSD1 | c.2417T>G (p.Leu806Ter) n.612+7397T>G n.2873T>G c.2981T>G (p.Leu994Ter) n.2687T>G c.3290T>G (p.Leu1097Ter) n.3437T>G c.2483T>G (p.Leu828Ter) c.2870T>G (p.Leu957Ter) c.2234T>G (p.Leu745Ter) c.-706T>G (n.-706T>G) | |
5 | g.177211689T= | CA1603478681 | NSD1 | c.2417T= (p.Leu806=) n.612+7397T= n.2873T= c.2981T= (p.Leu994=) n.2687T= c.3290T= (p.Leu1097=) n.3437T= c.2483T= (p.Leu828=) c.2870T= (p.Leu957=) c.2234T= (p.Leu745=) c.-706T= (n.-706T=) | |
5 | g.177211690A>C | CA362323460 | NSD1 | c.2418A>C (p.Leu806Phe) n.612+7398A>C n.2874A>C c.2982A>C (p.Leu994Phe) n.2688A>C c.3291A>C (p.Leu1097Phe) n.3438A>C c.2484A>C (p.Leu828Phe) c.2871A>C (p.Leu957Phe) c.2235A>C (p.Leu745Phe) c.-705A>C (n.-705A>C) | |
5 | g.177211690A>G | CA447960987 | NSD1 | c.2418A>G (p.Leu806=) n.612+7398A>G n.2874A>G c.2982A>G (p.Leu994=) n.2688A>G c.3291A>G (p.Leu1097=) n.3438A>G c.2484A>G (p.Leu828=) c.2871A>G (p.Leu957=) c.2235A>G (p.Leu745=) c.-705A>G (n.-705A>G) | |
5 | g.177211690A>T | CA362323459 | NSD1 | c.2418A>T (p.Leu806Phe) n.612+7398A>T n.2874A>T c.2982A>T (p.Leu994Phe) n.2688A>T c.3291A>T (p.Leu1097Phe) n.3438A>T c.2484A>T (p.Leu828Phe) c.2871A>T (p.Leu957Phe) c.2235A>T (p.Leu745Phe) c.-705A>T (n.-705A>T) | |
5 | g.177211691dup | CA2695202835 | NSD1 | c.2419dup (p.Thr807AsnfsTer3) n.612+7399dup n.2875dup c.2983dup (p.Thr995AsnfsTer3) n.2689dup c.3292dup (p.Thr1098AsnfsTer3) n.3439dup c.2485dup (p.Thr829AsnfsTer3) c.2872dup (p.Thr958AsnfsTer3) c.2236dup (p.Thr746AsnfsTer3) c.-704dup (n.-704dup) | |
5 | g.177211691A= | CA1603478689 | NSD1 | c.2419A= (p.Thr807=) n.612+7399A= n.2875A= c.2983A= (p.Thr995=) n.2689A= c.3292A= (p.Thr1098=) n.3439A= c.2485A= (p.Thr829=) c.2872A= (p.Thr958=) c.2236A= (p.Thr746=) c.-704A= (n.-704A=) | |
5 | g.177211691A>C | CA362323463 | NSD1 | c.2419A>C (p.Thr807Pro) n.612+7399A>C n.2875A>C c.2983A>C (p.Thr995Pro) n.2689A>C c.3292A>C (p.Thr1098Pro) n.3439A>C c.2485A>C (p.Thr829Pro) c.2872A>C (p.Thr958Pro) c.2236A>C (p.Thr746Pro) c.-704A>C (n.-704A>C) | |
5 | g.177211691A>G | CA3577412 | NSD1 | c.2419A>G (p.Thr807Ala) n.612+7399A>G n.2875A>G c.2983A>G (p.Thr995Ala) n.2689A>G c.3292A>G (p.Thr1098Ala) n.3439A>G c.2485A>G (p.Thr829Ala) c.2872A>G (p.Thr958Ala) c.2236A>G (p.Thr746Ala) c.-704A>G (n.-704A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211691A>T | CA362323466 | NSD1 | c.2419A>T (p.Thr807Ser) n.612+7399A>T n.2875A>T c.2983A>T (p.Thr995Ser) n.2689A>T c.3292A>T (p.Thr1098Ser) n.3439A>T c.2485A>T (p.Thr829Ser) c.2872A>T (p.Thr958Ser) c.2236A>T (p.Thr746Ser) c.-704A>T (n.-704A>T) | |
5 | g.177211691_177211692delinsAC | CA1603478690 | NSD1 | c.2419_2420delinsAC (p.Thr807=) n.612+7399_612+7400delinsAC n.2875_2876delinsAC c.2983_2984delinsAC (p.Thr995=) n.2689_2690delinsAC c.3292_3293delinsAC (p.Thr1098=) n.3439_3440delinsAC c.2485_2486delinsAC (p.Thr829=) c.2872_2873delinsAC (p.Thr958=) c.2236_2237delinsAC (p.Thr746=) c.-704_-703delinsAC (n.-704_-703delinsAC) | |
5 | g.177211692del | CA294849 | NSD1 | c.2420del (p.Thr807LysfsTer?) n.612+7400del n.2876del c.2984del (p.Thr995LysfsTer?) n.2690del c.3293del (p.Thr1098LysfsTer?) n.3440del c.2486del (p.Thr829LysfsTer?) c.2873del (p.Thr958LysfsTer?) c.2237del (p.Thr746LysfsTer?) c.-703del (n.-703del) | ClinVar dbSNP |
5 | g.177211692C>A | CA362323473 | NSD1 | c.2420C>A (p.Thr807Lys) n.612+7400C>A n.2876C>A c.2984C>A (p.Thr995Lys) n.2690C>A c.3293C>A (p.Thr1098Lys) n.3440C>A c.2486C>A (p.Thr829Lys) c.2873C>A (p.Thr958Lys) c.2237C>A (p.Thr746Lys) c.-703C>A (n.-703C>A) | |
5 | g.177211692C>G | CA362323474 | NSD1 | c.2420C>G (p.Thr807Arg) n.612+7400C>G n.2876C>G c.2984C>G (p.Thr995Arg) n.2690C>G c.3293C>G (p.Thr1098Arg) n.3440C>G c.2486C>G (p.Thr829Arg) c.2873C>G (p.Thr958Arg) c.2237C>G (p.Thr746Arg) c.-703C>G (n.-703C>G) | dbSNP |
5 | g.177211692C>T | CA362323475 | NSD1 | c.2420C>T (p.Thr807Ile) n.612+7400C>T n.2876C>T c.2984C>T (p.Thr995Ile) n.2690C>T c.3293C>T (p.Thr1098Ile) n.3440C>T c.2486C>T (p.Thr829Ile) c.2873C>T (p.Thr958Ile) c.2237C>T (p.Thr746Ile) c.-703C>T (n.-703C>T) | |
5 | g.177211692_177211693delinsCA | CA1603478695 | NSD1 | c.2420_2421delinsCA (p.Thr807=) n.612+7400_612+7401delinsCA n.2876_2877delinsCA c.2984_2985delinsCA (p.Thr995=) n.2690_2691delinsCA c.3293_3294delinsCA (p.Thr1098=) n.3440_3441delinsCA c.2486_2487delinsCA (p.Thr829=) c.2873_2874delinsCA (p.Thr958=) c.2237_2238delinsCA (p.Thr746=) c.-703_-702delinsCA (n.-703_-702delinsCA) | |
5 | g.177211693A= | CA1603478698 | NSD1 | c.2421A= (p.Thr807=) n.612+7401A= n.2877A= c.2985A= (p.Thr995=) n.2691A= c.3294A= (p.Thr1098=) n.3441A= c.2487A= (p.Thr829=) c.2874A= (p.Thr958=) c.2238A= (p.Thr746=) c.-702A= (n.-702A=) | |
5 | g.177211693A>C | CA447960990 | NSD1 | c.2421A>C (p.Thr807=) n.612+7401A>C n.2877A>C c.2985A>C (p.Thr995=) n.2691A>C c.3294A>C (p.Thr1098=) n.3441A>C c.2487A>C (p.Thr829=) c.2874A>C (p.Thr958=) c.2238A>C (p.Thr746=) c.-702A>C (n.-702A>C) | |
5 | g.177211693A>G | CA447960991 | NSD1 | c.2421A>G (p.Thr807=) n.612+7401A>G n.2877A>G c.2985A>G (p.Thr995=) n.2691A>G c.3294A>G (p.Thr1098=) n.3441A>G c.2487A>G (p.Thr829=) c.2874A>G (p.Thr958=) c.2238A>G (p.Thr746=) c.-702A>G (n.-702A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211693A>T | CA447960992 | NSD1 | c.2421A>T (p.Thr807=) n.612+7401A>T n.2877A>T c.2985A>T (p.Thr995=) n.2691A>T c.3294A>T (p.Thr1098=) n.3441A>T c.2487A>T (p.Thr829=) c.2874A>T (p.Thr958=) c.2238A>T (p.Thr746=) c.-702A>T (n.-702A>T) | |
5 | g.177211694del | CA294850 | NSD1 | c.2422del (p.Ser808ValfsTer?) n.612+7402del n.2878del c.2986del (p.Ser996ValfsTer?) n.2692del c.3295del (p.Ser1099ValfsTer?) n.3442del c.2488del (p.Ser830ValfsTer?) c.2875del (p.Ser959ValfsTer?) c.2239del (p.Ser747ValfsTer?) c.-701del (n.-701del) | ClinVar dbSNP |
5 | g.177211694A= | CA1603478700 | NSD1 | c.2422A= (p.Ser808=) n.612+7402A= n.2878A= c.2986A= (p.Ser996=) n.2692A= c.3295A= (p.Ser1099=) n.3442A= c.2488A= (p.Ser830=) c.2875A= (p.Ser959=) c.2239A= (p.Ser747=) c.-701A= (n.-701A=) | |
5 | g.177211694A>C | CA362323486 | NSD1 | c.2422A>C (p.Ser808Arg) n.612+7402A>C n.2878A>C c.2986A>C (p.Ser996Arg) n.2692A>C c.3295A>C (p.Ser1099Arg) n.3442A>C c.2488A>C (p.Ser830Arg) c.2875A>C (p.Ser959Arg) c.2239A>C (p.Ser747Arg) c.-701A>C (n.-701A>C) | gnomAD v4 |
5 | g.177211694A>G | CA362323487 | NSD1 | c.2422A>G (p.Ser808Gly) n.612+7402A>G n.2878A>G c.2986A>G (p.Ser996Gly) n.2692A>G c.3295A>G (p.Ser1099Gly) n.3442A>G c.2488A>G (p.Ser830Gly) c.2875A>G (p.Ser959Gly) c.2239A>G (p.Ser747Gly) c.-701A>G (n.-701A>G) | dbSNP gnomAD v4 |
5 | g.177211694A>T | CA362323489 | NSD1 | c.2422A>T (p.Ser808Cys) n.612+7402A>T n.2878A>T c.2986A>T (p.Ser996Cys) n.2692A>T c.3295A>T (p.Ser1099Cys) n.3442A>T c.2488A>T (p.Ser830Cys) c.2875A>T (p.Ser959Cys) c.2239A>T (p.Ser747Cys) c.-701A>T (n.-701A>T) | dbSNP gnomAD v4 |
5 | g.177211695G>A | CA362323491 | NSD1 | c.2423G>A (p.Ser808Asn) n.612+7403G>A n.2879G>A c.2987G>A (p.Ser996Asn) n.2693G>A c.3296G>A (p.Ser1099Asn) n.3443G>A c.2489G>A (p.Ser830Asn) c.2876G>A (p.Ser959Asn) c.2240G>A (p.Ser747Asn) c.-700G>A (n.-700G>A) | |
5 | g.177211695G>C | CA362323494 | NSD1 | c.2423G>C (p.Ser808Thr) n.612+7403G>C n.2879G>C c.2987G>C (p.Ser996Thr) n.2693G>C c.3296G>C (p.Ser1099Thr) n.3443G>C c.2489G>C (p.Ser830Thr) c.2876G>C (p.Ser959Thr) c.2240G>C (p.Ser747Thr) c.-700G>C (n.-700G>C) | |
5 | g.177211695G>T | CA362323500 | NSD1 | c.2423G>T (p.Ser808Ile) n.612+7403G>T n.2879G>T c.2987G>T (p.Ser996Ile) n.2693G>T c.3296G>T (p.Ser1099Ile) n.3443G>T c.2489G>T (p.Ser830Ile) c.2876G>T (p.Ser959Ile) c.2240G>T (p.Ser747Ile) c.-700G>T (n.-700G>T) | |
5 | g.177211696T>A | CA362323503 | NSD1 | c.2424T>A (p.Ser808Arg) n.612+7404T>A n.2880T>A c.2988T>A (p.Ser996Arg) n.2694T>A c.3297T>A (p.Ser1099Arg) n.3444T>A c.2490T>A (p.Ser830Arg) c.2877T>A (p.Ser959Arg) c.2241T>A (p.Ser747Arg) c.-699T>A (n.-699T>A) | dbSNP |
5 | g.177211696T>C | CA447961057 | NSD1 | c.2424T>C (p.Ser808=) n.612+7404T>C n.2880T>C c.2988T>C (p.Ser996=) n.2694T>C c.3297T>C (p.Ser1099=) n.3444T>C c.2490T>C (p.Ser830=) c.2877T>C (p.Ser959=) c.2241T>C (p.Ser747=) c.-699T>C (n.-699T>C) | |
5 | g.177211696T>G | CA362323504 | NSD1 | c.2424T>G (p.Ser808Arg) n.612+7404T>G n.2880T>G c.2988T>G (p.Ser996Arg) n.2694T>G c.3297T>G (p.Ser1099Arg) n.3444T>G c.2490T>G (p.Ser830Arg) c.2877T>G (p.Ser959Arg) c.2241T>G (p.Ser747Arg) c.-699T>G (n.-699T>G) | |
5 | g.177211697G>A | CA362323509 | NSD1 | c.2425G>A (p.Glu809Lys) n.612+7405G>A n.2881G>A c.2989G>A (p.Glu997Lys) n.2695G>A c.3298G>A (p.Glu1100Lys) n.3445G>A c.2491G>A (p.Glu831Lys) c.2878G>A (p.Glu960Lys) c.2242G>A (p.Glu748Lys) c.-698G>A (n.-698G>A) | |
5 | g.177211697G>C | CA362323514 | NSD1 | c.2425G>C (p.Glu809Gln) n.612+7405G>C n.2881G>C c.2989G>C (p.Glu997Gln) n.2695G>C c.3298G>C (p.Glu1100Gln) n.3445G>C c.2491G>C (p.Glu831Gln) c.2878G>C (p.Glu960Gln) c.2242G>C (p.Glu748Gln) c.-698G>C (n.-698G>C) | |
5 | g.177211697G>T | CA362323512 | NSD1 | c.2425G>T (p.Glu809Ter) n.612+7405G>T n.2881G>T c.2989G>T (p.Glu997Ter) n.2695G>T c.3298G>T (p.Glu1100Ter) n.3445G>T c.2491G>T (p.Glu831Ter) c.2878G>T (p.Glu960Ter) c.2242G>T (p.Glu748Ter) c.-698G>T (n.-698G>T) | |
5 | g.177211698A>C | CA362323519 | NSD1 | c.2426A>C (p.Glu809Ala) n.612+7406A>C n.2882A>C c.2990A>C (p.Glu997Ala) n.2696A>C c.3299A>C (p.Glu1100Ala) n.3446A>C c.2492A>C (p.Glu831Ala) c.2879A>C (p.Glu960Ala) c.2243A>C (p.Glu748Ala) c.-697A>C (n.-697A>C) | |
5 | g.177211698A>G | CA362323525 | NSD1 | c.2426A>G (p.Glu809Gly) n.612+7406A>G n.2882A>G c.2990A>G (p.Glu997Gly) n.2696A>G c.3299A>G (p.Glu1100Gly) n.3446A>G c.2492A>G (p.Glu831Gly) c.2879A>G (p.Glu960Gly) c.2243A>G (p.Glu748Gly) c.-697A>G (n.-697A>G) | |
5 | g.177211698A>T | CA362323522 | NSD1 | c.2426A>T (p.Glu809Val) n.612+7406A>T n.2882A>T c.2990A>T (p.Glu997Val) n.2696A>T c.3299A>T (p.Glu1100Val) n.3446A>T c.2492A>T (p.Glu831Val) c.2879A>T (p.Glu960Val) c.2243A>T (p.Glu748Val) c.-697A>T (n.-697A>T) | |
5 | g.177211699A>C | CA362323532 | NSD1 | c.2427A>C (p.Glu809Asp) n.612+7407A>C n.2883A>C c.2991A>C (p.Glu997Asp) n.2697A>C c.3300A>C (p.Glu1100Asp) n.3447A>C c.2493A>C (p.Glu831Asp) c.2880A>C (p.Glu960Asp) c.2244A>C (p.Glu748Asp) c.-696A>C (n.-696A>C) | |
5 | g.177211699A>G | CA447961058 | NSD1 | c.2427A>G (p.Glu809=) n.612+7407A>G n.2883A>G c.2991A>G (p.Glu997=) n.2697A>G c.3300A>G (p.Glu1100=) n.3447A>G c.2493A>G (p.Glu831=) c.2880A>G (p.Glu960=) c.2244A>G (p.Glu748=) c.-696A>G (n.-696A>G) | |
5 | g.177211699A>T | CA362323533 | NSD1 | c.2427A>T (p.Glu809Asp) n.612+7407A>T n.2883A>T c.2991A>T (p.Glu997Asp) n.2697A>T c.3300A>T (p.Glu1100Asp) n.3447A>T c.2493A>T (p.Glu831Asp) c.2880A>T (p.Glu960Asp) c.2244A>T (p.Glu748Asp) c.-696A>T (n.-696A>T) | |
5 | g.177211700G>A | CA362323537 | NSD1 | c.2428G>A (p.Asp810Asn) n.612+7408G>A n.2884G>A c.2992G>A (p.Asp998Asn) n.2698G>A c.3301G>A (p.Asp1101Asn) n.3448G>A c.2494G>A (p.Asp832Asn) c.2881G>A (p.Asp961Asn) c.2245G>A (p.Asp749Asn) c.-695G>A (n.-695G>A) | gnomAD v4 |
5 | g.177211700G>C | CA362323538 | NSD1 | c.2428G>C (p.Asp810His) n.612+7408G>C n.2884G>C c.2992G>C (p.Asp998His) n.2698G>C c.3301G>C (p.Asp1101His) n.3448G>C c.2494G>C (p.Asp832His) c.2881G>C (p.Asp961His) c.2245G>C (p.Asp749His) c.-695G>C (n.-695G>C) | |
5 | g.177211700G= | CA1603478709 | NSD1 | c.2428G= (p.Asp810=) n.612+7408G= n.2884G= c.2992G= (p.Asp998=) n.2698G= c.3301G= (p.Asp1101=) n.3448G= c.2494G= (p.Asp832=) c.2881G= (p.Asp961=) c.2245G= (p.Asp749=) c.-695G= (n.-695G=) | |
5 | g.177211700G>T | CA362323539 | NSD1 | c.2428G>T (p.Asp810Tyr) n.612+7408G>T n.2884G>T c.2992G>T (p.Asp998Tyr) n.2698G>T c.3301G>T (p.Asp1101Tyr) n.3448G>T c.2494G>T (p.Asp832Tyr) c.2881G>T (p.Asp961Tyr) c.2245G>T (p.Asp749Tyr) c.-695G>T (n.-695G>T) | dbSNP gnomAD v4 |
5 | g.177211701A= | CA1603478712 | NSD1 | c.2429A= (p.Asp810=) n.612+7409A= n.2885A= c.2993A= (p.Asp998=) n.2699A= c.3302A= (p.Asp1101=) n.3449A= c.2495A= (p.Asp832=) c.2882A= (p.Asp961=) c.2246A= (p.Asp749=) c.-694A= (n.-694A=) | |
5 | g.177211701A>C | CA362323540 | NSD1 | c.2429A>C (p.Asp810Ala) n.612+7409A>C n.2885A>C c.2993A>C (p.Asp998Ala) n.2699A>C c.3302A>C (p.Asp1101Ala) n.3449A>C c.2495A>C (p.Asp832Ala) c.2882A>C (p.Asp961Ala) c.2246A>C (p.Asp749Ala) c.-694A>C (n.-694A>C) | |
5 | g.177211701A>G | CA362323543 | NSD1 | c.2429A>G (p.Asp810Gly) n.612+7409A>G n.2885A>G c.2993A>G (p.Asp998Gly) n.2699A>G c.3302A>G (p.Asp1101Gly) n.3449A>G c.2495A>G (p.Asp832Gly) c.2882A>G (p.Asp961Gly) c.2246A>G (p.Asp749Gly) c.-694A>G (n.-694A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211701A>T | CA362323545 | NSD1 | c.2429A>T (p.Asp810Val) n.612+7409A>T n.2885A>T c.2993A>T (p.Asp998Val) n.2699A>T c.3302A>T (p.Asp1101Val) n.3449A>T c.2495A>T (p.Asp832Val) c.2882A>T (p.Asp961Val) c.2246A>T (p.Asp749Val) c.-694A>T (n.-694A>T) | |
5 | g.177211702T>A | CA132831281 | NSD1 | c.2430T>A (p.Asp810Glu) n.612+7410T>A n.2886T>A c.2994T>A (p.Asp998Glu) n.2700T>A c.3303T>A (p.Asp1101Glu) n.3450T>A c.2496T>A (p.Asp832Glu) c.2883T>A (p.Asp961Glu) c.2247T>A (p.Asp749Glu) c.-693T>A (n.-693T>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211702T>C | CA447961059 | NSD1 | c.2430T>C (p.Asp810=) n.612+7410T>C n.2886T>C c.2994T>C (p.Asp998=) n.2700T>C c.3303T>C (p.Asp1101=) n.3450T>C c.2496T>C (p.Asp832=) c.2883T>C (p.Asp961=) c.2247T>C (p.Asp749=) c.-693T>C (n.-693T>C) | |
5 | g.177211702T>G | CA362323553 | NSD1 | c.2430T>G (p.Asp810Glu) n.612+7410T>G n.2886T>G c.2994T>G (p.Asp998Glu) n.2700T>G c.3303T>G (p.Asp1101Glu) n.3450T>G c.2496T>G (p.Asp832Glu) c.2883T>G (p.Asp961Glu) c.2247T>G (p.Asp749Glu) c.-693T>G (n.-693T>G) | |
5 | g.177211702T= | CA1603478714 | NSD1 | c.2430T= (p.Asp810=) n.612+7410T= n.2886T= c.2994T= (p.Asp998=) n.2700T= c.3303T= (p.Asp1101=) n.3450T= c.2496T= (p.Asp832=) c.2883T= (p.Asp961=) c.2247T= (p.Asp749=) c.-693T= (n.-693T=) | |
5 | g.177211703G>A | CA362323561 | NSD1 | c.2431G>A (p.Gly811Ser) n.612+7411G>A n.2887G>A c.2995G>A (p.Gly999Ser) n.2701G>A c.3304G>A (p.Gly1102Ser) n.3451G>A c.2497G>A (p.Gly833Ser) c.2884G>A (p.Gly962Ser) c.2248G>A (p.Gly750Ser) c.-692G>A (n.-692G>A) | dbSNP |
5 | g.177211703G>C | CA132831291 | NSD1 | c.2431G>C (p.Gly811Arg) n.612+7411G>C n.2887G>C c.2995G>C (p.Gly999Arg) n.2701G>C c.3304G>C (p.Gly1102Arg) n.3451G>C c.2497G>C (p.Gly833Arg) c.2884G>C (p.Gly962Arg) c.2248G>C (p.Gly750Arg) c.-692G>C (n.-692G>C) | dbSNP |
5 | g.177211703G= | CA1603478718 | NSD1 | c.2431G= (p.Gly811=) n.612+7411G= n.2887G= c.2995G= (p.Gly999=) n.2701G= c.3304G= (p.Gly1102=) n.3451G= c.2497G= (p.Gly833=) c.2884G= (p.Gly962=) c.2248G= (p.Gly750=) c.-692G= (n.-692G=) | |
5 | g.177211703G>T | CA362323556 | NSD1 | c.2431G>T (p.Gly811Cys) n.612+7411G>T n.2887G>T c.2995G>T (p.Gly999Cys) n.2701G>T c.3304G>T (p.Gly1102Cys) n.3451G>T c.2497G>T (p.Gly833Cys) c.2884G>T (p.Gly962Cys) c.2248G>T (p.Gly750Cys) c.-692G>T (n.-692G>T) | |
5 | g.177211704G>A | CA362323567 | NSD1 | c.2432G>A (p.Gly811Asp) n.612+7412G>A n.2888G>A c.2996G>A (p.Gly999Asp) n.2702G>A c.3305G>A (p.Gly1102Asp) n.3452G>A c.2498G>A (p.Gly833Asp) c.2885G>A (p.Gly962Asp) c.2249G>A (p.Gly750Asp) c.-691G>A (n.-691G>A) | dbSNP |
5 | g.177211704G>C | CA362323569 | NSD1 | c.2432G>C (p.Gly811Ala) n.612+7412G>C n.2888G>C c.2996G>C (p.Gly999Ala) n.2702G>C c.3305G>C (p.Gly1102Ala) n.3452G>C c.2498G>C (p.Gly833Ala) c.2885G>C (p.Gly962Ala) c.2249G>C (p.Gly750Ala) c.-691G>C (n.-691G>C) | dbSNP |
5 | g.177211704G>T | CA362323571 | NSD1 | c.2432G>T (p.Gly811Val) n.612+7412G>T n.2888G>T c.2996G>T (p.Gly999Val) n.2702G>T c.3305G>T (p.Gly1102Val) n.3452G>T c.2498G>T (p.Gly833Val) c.2885G>T (p.Gly962Val) c.2249G>T (p.Gly750Val) c.-691G>T (n.-691G>T) | |
5 | g.177211705T>A | CA447961060 | NSD1 | c.2433T>A (p.Gly811=) n.612+7413T>A n.2889T>A c.2997T>A (p.Gly999=) n.2703T>A c.3306T>A (p.Gly1102=) n.3453T>A c.2499T>A (p.Gly833=) c.2886T>A (p.Gly962=) c.2250T>A (p.Gly750=) c.-690T>A (n.-690T>A) | |
5 | g.177211705T>C | CA447961061 | NSD1 | c.2433T>C (p.Gly811=) n.612+7413T>C n.2889T>C c.2997T>C (p.Gly999=) n.2703T>C c.3306T>C (p.Gly1102=) n.3453T>C c.2499T>C (p.Gly833=) c.2886T>C (p.Gly962=) c.2250T>C (p.Gly750=) c.-690T>C (n.-690T>C) | |
5 | g.177211705T>G | CA447961062 | NSD1 | c.2433T>G (p.Gly811=) n.612+7413T>G n.2889T>G c.2997T>G (p.Gly999=) n.2703T>G c.3306T>G (p.Gly1102=) n.3453T>G c.2499T>G (p.Gly833=) c.2886T>G (p.Gly962=) c.2250T>G (p.Gly750=) c.-690T>G (n.-690T>G) | |
5 | g.177211706G>A | CA3577413 | NSD1 | c.2434G>A (p.Asp812Asn) n.612+7414G>A n.2890G>A c.2998G>A (p.Asp1000Asn) n.2704G>A c.3307G>A (p.Asp1103Asn) n.3454G>A c.2500G>A (p.Asp834Asn) c.2887G>A (p.Asp963Asn) c.2251G>A (p.Asp751Asn) c.-689G>A (n.-689G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211706G>C | CA362323572 | NSD1 | c.2434G>C (p.Asp812His) n.612+7414G>C n.2890G>C c.2998G>C (p.Asp1000His) n.2704G>C c.3307G>C (p.Asp1103His) n.3454G>C c.2500G>C (p.Asp834His) c.2887G>C (p.Asp963His) c.2251G>C (p.Asp751His) c.-689G>C (n.-689G>C) | |
5 | g.177211706G= | CA1603478723 | NSD1 | c.2434G= (p.Asp812=) n.612+7414G= n.2890G= c.2998G= (p.Asp1000=) n.2704G= c.3307G= (p.Asp1103=) n.3454G= c.2500G= (p.Asp834=) c.2887G= (p.Asp963=) c.2251G= (p.Asp751=) c.-689G= (n.-689G=) | |
5 | g.177211706G>T | CA362323573 | NSD1 | c.2434G>T (p.Asp812Tyr) n.612+7414G>T n.2890G>T c.2998G>T (p.Asp1000Tyr) n.2704G>T c.3307G>T (p.Asp1103Tyr) n.3454G>T c.2500G>T (p.Asp834Tyr) c.2887G>T (p.Asp963Tyr) c.2251G>T (p.Asp751Tyr) c.-689G>T (n.-689G>T) | gnomAD v4 |
5 | g.177211707A>C | CA362323576 | NSD1 | c.2435A>C (p.Asp812Ala) n.612+7415A>C n.2891A>C c.2999A>C (p.Asp1000Ala) n.2705A>C c.3308A>C (p.Asp1103Ala) n.3455A>C c.2501A>C (p.Asp834Ala) c.2888A>C (p.Asp963Ala) c.2252A>C (p.Asp751Ala) c.-688A>C (n.-688A>C) | |
5 | g.177211707A>G | CA362323577 | NSD1 | c.2435A>G (p.Asp812Gly) n.612+7415A>G n.2891A>G c.2999A>G (p.Asp1000Gly) n.2705A>G c.3308A>G (p.Asp1103Gly) n.3455A>G c.2501A>G (p.Asp834Gly) c.2888A>G (p.Asp963Gly) c.2252A>G (p.Asp751Gly) c.-688A>G (n.-688A>G) | |
5 | g.177211707A>T | CA362323580 | NSD1 | c.2435A>T (p.Asp812Val) n.612+7415A>T n.2891A>T c.2999A>T (p.Asp1000Val) n.2705A>T c.3308A>T (p.Asp1103Val) n.3455A>T c.2501A>T (p.Asp834Val) c.2888A>T (p.Asp963Val) c.2252A>T (p.Asp751Val) c.-688A>T (n.-688A>T) | |
5 | g.177211708C>A | CA362323584 | NSD1 | c.2436C>A (p.Asp812Glu) n.612+7416C>A n.2892C>A c.3000C>A (p.Asp1000Glu) n.2706C>A c.3309C>A (p.Asp1103Glu) n.3456C>A c.2502C>A (p.Asp834Glu) c.2889C>A (p.Asp963Glu) c.2253C>A (p.Asp751Glu) c.-687C>A (n.-687C>A) | |
5 | g.177211708C= | CA1603478728 | NSD1 | c.2436C= (p.Asp812=) n.612+7416C= n.2892C= c.3000C= (p.Asp1000=) n.2706C= c.3309C= (p.Asp1103=) n.3456C= c.2502C= (p.Asp834=) c.2889C= (p.Asp963=) c.2253C= (p.Asp751=) c.-687C= (n.-687C=) | |
5 | g.177211708C>G | CA132831308 | NSD1 | c.2436C>G (p.Asp812Glu) n.612+7416C>G n.2892C>G c.3000C>G (p.Asp1000Glu) n.2706C>G c.3309C>G (p.Asp1103Glu) n.3456C>G c.2502C>G (p.Asp834Glu) c.2889C>G (p.Asp963Glu) c.2253C>G (p.Asp751Glu) c.-687C>G (n.-687C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211708C>T | CA447961063 | NSD1 | c.2436C>T (p.Asp812=) n.612+7416C>T n.2892C>T c.3000C>T (p.Asp1000=) n.2706C>T c.3309C>T (p.Asp1103=) n.3456C>T c.2502C>T (p.Asp834=) c.2889C>T (p.Asp963=) c.2253C>T (p.Asp751=) c.-687C>T (n.-687C>T) | COSMIC COSMIC |
5 | g.177211709C>A | CA362323597 | NSD1 | c.2437C>A (p.His813Asn) n.612+7417C>A n.2893C>A c.3001C>A (p.His1001Asn) n.2707C>A c.3310C>A (p.His1104Asn) n.3457C>A c.2503C>A (p.His835Asn) c.2890C>A (p.His964Asn) c.2254C>A (p.His752Asn) c.-686C>A (n.-686C>A) | |
5 | g.177211709C>G | CA362323594 | NSD1 | c.2437C>G (p.His813Asp) n.612+7417C>G n.2893C>G c.3001C>G (p.His1001Asp) n.2707C>G c.3310C>G (p.His1104Asp) n.3457C>G c.2503C>G (p.His835Asp) c.2890C>G (p.His964Asp) c.2254C>G (p.His752Asp) c.-686C>G (n.-686C>G) | |
5 | g.177211709C>T | CA362323591 | NSD1 | c.2437C>T (p.His813Tyr) n.612+7417C>T n.2893C>T c.3001C>T (p.His1001Tyr) n.2707C>T c.3310C>T (p.His1104Tyr) n.3457C>T c.2503C>T (p.His835Tyr) c.2890C>T (p.His964Tyr) c.2254C>T (p.His752Tyr) c.-686C>T (n.-686C>T) | gnomAD v4 |
5 | g.177211710A= | CA1603478734 | NSD1 | c.2438A= (p.His813=) n.612+7418A= n.2894A= c.3002A= (p.His1001=) n.2708A= c.3311A= (p.His1104=) n.3458A= c.2504A= (p.His835=) c.2891A= (p.His964=) c.2255A= (p.His752=) c.-685A= (n.-685A=) | |
5 | g.177211710A>C | CA362323601 | NSD1 | c.2438A>C (p.His813Pro) n.612+7418A>C n.2894A>C c.3002A>C (p.His1001Pro) n.2708A>C c.3311A>C (p.His1104Pro) n.3458A>C c.2504A>C (p.His835Pro) c.2891A>C (p.His964Pro) c.2255A>C (p.His752Pro) c.-685A>C (n.-685A>C) | |
5 | g.177211710A>G | CA3577414 | NSD1 | c.2438A>G (p.His813Arg) n.612+7418A>G n.2894A>G c.3002A>G (p.His1001Arg) n.2708A>G c.3311A>G (p.His1104Arg) n.3458A>G c.2504A>G (p.His835Arg) c.2891A>G (p.His964Arg) c.2255A>G (p.His752Arg) c.-685A>G (n.-685A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211710A>T | CA362323605 | NSD1 | c.2438A>T (p.His813Leu) n.612+7418A>T n.2894A>T c.3002A>T (p.His1001Leu) n.2708A>T c.3311A>T (p.His1104Leu) n.3458A>T c.2504A>T (p.His835Leu) c.2891A>T (p.His964Leu) c.2255A>T (p.His752Leu) c.-685A>T (n.-685A>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211711T>A | CA362323608 | NSD1 | c.2439T>A (p.His813Gln) n.612+7419T>A n.2895T>A c.3003T>A (p.His1001Gln) n.2709T>A c.3312T>A (p.His1104Gln) n.3459T>A c.2505T>A (p.His835Gln) c.2892T>A (p.His964Gln) c.2256T>A (p.His752Gln) c.-684T>A (n.-684T>A) | |
5 | g.177211711T>C | CA447961064 | NSD1 | c.2439T>C (p.His813=) n.612+7419T>C n.2895T>C c.3003T>C (p.His1001=) n.2709T>C c.3312T>C (p.His1104=) n.3459T>C c.2505T>C (p.His835=) c.2892T>C (p.His964=) c.2256T>C (p.His752=) c.-684T>C (n.-684T>C) | |
5 | g.177211711T>G | CA362323613 | NSD1 | c.2439T>G (p.His813Gln) n.612+7419T>G n.2895T>G c.3003T>G (p.His1001Gln) n.2709T>G c.3312T>G (p.His1104Gln) n.3459T>G c.2505T>G (p.His835Gln) c.2892T>G (p.His964Gln) c.2256T>G (p.His752Gln) c.-684T>G (n.-684T>G) | |
5 | g.177211715dup | CA319724 | NSD1 | c.2443dup (p.Ser815PhefsTer2) n.612+7423dup n.2899dup c.3007dup (p.Ser1003PhefsTer2) n.2713dup c.3316dup (p.Ser1106PhefsTer2) n.3463dup c.2509dup (p.Ser837PhefsTer2) c.2896dup (p.Ser966PhefsTer2) c.2260dup (p.Ser754PhefsTer2) c.-680dup (n.-680dup) | ClinVar dbSNP |
5 | g.177211715del | CA2710741776 | NSD1 | c.2443del (p.Ser815LeufsTer?) n.612+7423del n.2899del c.3007del (p.Ser1003LeufsTer?) n.2713del c.3316del (p.Ser1106LeufsTer?) n.3463del c.2509del (p.Ser837LeufsTer?) c.2896del (p.Ser966LeufsTer?) c.2260del (p.Ser754LeufsTer?) c.-680del (n.-680del) | dbSNP |
5 | g.177211712T>A | CA362323618 | NSD1 | c.2440T>A (p.Phe814Ile) n.612+7420T>A n.2896T>A c.3004T>A (p.Phe1002Ile) n.2710T>A c.3313T>A (p.Phe1105Ile) n.3460T>A c.2506T>A (p.Phe836Ile) c.2893T>A (p.Phe965Ile) c.2257T>A (p.Phe753Ile) c.-683T>A (n.-683T>A) | |
5 | g.177211712T>C | CA362323621 | NSD1 | c.2440T>C (p.Phe814Leu) n.612+7420T>C n.2896T>C c.3004T>C (p.Phe1002Leu) n.2710T>C c.3313T>C (p.Phe1105Leu) n.3460T>C c.2506T>C (p.Phe836Leu) c.2893T>C (p.Phe965Leu) c.2257T>C (p.Phe753Leu) c.-683T>C (n.-683T>C) | |
5 | g.177211712T>G | CA362323623 | NSD1 | c.2440T>G (p.Phe814Val) n.612+7420T>G n.2896T>G c.3004T>G (p.Phe1002Val) n.2710T>G c.3313T>G (p.Phe1105Val) n.3460T>G c.2506T>G (p.Phe836Val) c.2893T>G (p.Phe965Val) c.2257T>G (p.Phe753Val) c.-683T>G (n.-683T>G) | |
5 | g.177211713T>A | CA362323628 | NSD1 | c.2441T>A (p.Phe814Tyr) n.612+7421T>A n.2897T>A c.3005T>A (p.Phe1002Tyr) n.2711T>A c.3314T>A (p.Phe1105Tyr) n.3461T>A c.2507T>A (p.Phe836Tyr) c.2894T>A (p.Phe965Tyr) c.2258T>A (p.Phe753Tyr) c.-682T>A (n.-682T>A) | dbSNP |
5 | g.177211713T>C | CA362323632 | NSD1 | c.2441T>C (p.Phe814Ser) n.612+7421T>C n.2897T>C c.3005T>C (p.Phe1002Ser) n.2711T>C c.3314T>C (p.Phe1105Ser) n.3461T>C c.2507T>C (p.Phe836Ser) c.2894T>C (p.Phe965Ser) c.2258T>C (p.Phe753Ser) c.-682T>C (n.-682T>C) | |
5 | g.177211713T>G | CA362323635 | NSD1 | c.2441T>G (p.Phe814Cys) n.612+7421T>G n.2897T>G c.3005T>G (p.Phe1002Cys) n.2711T>G c.3314T>G (p.Phe1105Cys) n.3461T>G c.2507T>G (p.Phe836Cys) c.2894T>G (p.Phe965Cys) c.2258T>G (p.Phe753Cys) c.-682T>G (n.-682T>G) | |
5 | g.177211714T>A | CA362323639 | NSD1 | c.2442T>A (p.Phe814Leu) n.612+7422T>A n.2898T>A c.3006T>A (p.Phe1002Leu) n.2712T>A c.3315T>A (p.Phe1105Leu) n.3462T>A c.2508T>A (p.Phe836Leu) c.2895T>A (p.Phe965Leu) c.2259T>A (p.Phe753Leu) c.-681T>A (n.-681T>A) | |
5 | g.177211714T>C | CA447961065 | NSD1 | c.2442T>C (p.Phe814=) n.612+7422T>C n.2898T>C c.3006T>C (p.Phe1002=) n.2712T>C c.3315T>C (p.Phe1105=) n.3462T>C c.2508T>C (p.Phe836=) c.2895T>C (p.Phe965=) c.2259T>C (p.Phe753=) c.-681T>C (n.-681T>C) | |
5 | g.177211714T>G | CA362323641 | NSD1 | c.2442T>G (p.Phe814Leu) n.612+7422T>G n.2898T>G c.3006T>G (p.Phe1002Leu) n.2712T>G c.3315T>G (p.Phe1105Leu) n.3462T>G c.2508T>G (p.Phe836Leu) c.2895T>G (p.Phe965Leu) c.2259T>G (p.Phe753Leu) c.-681T>G (n.-681T>G) | |
5 | g.177211715T>A | CA362323646 | NSD1 | c.2443T>A (p.Ser815Thr) n.612+7423T>A n.2899T>A c.3007T>A (p.Ser1003Thr) n.2713T>A c.3316T>A (p.Ser1106Thr) n.3463T>A c.2509T>A (p.Ser837Thr) c.2896T>A (p.Ser966Thr) c.2260T>A (p.Ser754Thr) c.-680T>A (n.-680T>A) | |
5 | g.177211715T>C | CA362323651 | NSD1 | c.2443T>C (p.Ser815Pro) n.612+7423T>C n.2899T>C c.3007T>C (p.Ser1003Pro) n.2713T>C c.3316T>C (p.Ser1106Pro) n.3463T>C c.2509T>C (p.Ser837Pro) c.2896T>C (p.Ser966Pro) c.2260T>C (p.Ser754Pro) c.-680T>C (n.-680T>C) | |
5 | g.177211715T>G | CA362323648 | NSD1 | c.2443T>G (p.Ser815Ala) n.612+7423T>G n.2899T>G c.3007T>G (p.Ser1003Ala) n.2713T>G c.3316T>G (p.Ser1106Ala) n.3463T>G c.2509T>G (p.Ser837Ala) c.2896T>G (p.Ser966Ala) c.2260T>G (p.Ser754Ala) c.-680T>G (n.-680T>G) | |
5 | g.177211716C>A | CA362323654 | NSD1 | c.2444C>A (p.Ser815Tyr) n.612+7424C>A n.2900C>A c.3008C>A (p.Ser1003Tyr) n.2714C>A c.3317C>A (p.Ser1106Tyr) n.3464C>A c.2510C>A (p.Ser837Tyr) c.2897C>A (p.Ser966Tyr) c.2261C>A (p.Ser754Tyr) c.-679C>A (n.-679C>A) | |
5 | g.177211716C>G | CA362323657 | NSD1 | c.2444C>G (p.Ser815Cys) n.612+7424C>G n.2900C>G c.3008C>G (p.Ser1003Cys) n.2714C>G c.3317C>G (p.Ser1106Cys) n.3464C>G c.2510C>G (p.Ser837Cys) c.2897C>G (p.Ser966Cys) c.2261C>G (p.Ser754Cys) c.-679C>G (n.-679C>G) | |
5 | g.177211716C>T | CA362323659 | NSD1 | c.2444C>T (p.Ser815Phe) n.612+7424C>T n.2900C>T c.3008C>T (p.Ser1003Phe) n.2714C>T c.3317C>T (p.Ser1106Phe) n.3464C>T c.2510C>T (p.Ser837Phe) c.2897C>T (p.Ser966Phe) c.2261C>T (p.Ser754Phe) c.-679C>T (n.-679C>T) | |
5 | g.177211716_177211717insCAG | CA2501042640 | NSD1 | c.2444_2445insCAG (p.Ser815_Asp816insSer) n.612+7424_612+7425insCAG n.2900_2901insCAG c.3008_3009insCAG (p.Ser1003_Asp1004insSer) n.2714_2715insCAG c.3317_3318insCAG (p.Ser1106_Asp1107insSer) n.3464_3465insCAG c.2510_2511insCAG (p.Ser837_Asp838insSer) c.2897_2898insCAG (p.Ser966_Asp967insSer) c.2261_2262insCAG (p.Ser754_Asp755insSer) c.-679_-678insCAG (n.-679_-678insCAG) | |
5 | g.177211717T>A | CA447961068 | NSD1 | c.2445T>A (p.Ser815=) n.612+7425T>A n.2901T>A c.3009T>A (p.Ser1003=) n.2715T>A c.3318T>A (p.Ser1106=) n.3465T>A c.2511T>A (p.Ser837=) c.2898T>A (p.Ser966=) c.2262T>A (p.Ser754=) c.-678T>A (n.-678T>A) | |
5 | g.177211717T>C | CA447961066 | NSD1 | c.2445T>C (p.Ser815=) n.612+7425T>C n.2901T>C c.3009T>C (p.Ser1003=) n.2715T>C c.3318T>C (p.Ser1106=) n.3465T>C c.2511T>C (p.Ser837=) c.2898T>C (p.Ser966=) c.2262T>C (p.Ser754=) c.-678T>C (n.-678T>C) | |
5 | g.177211717T>G | CA447961067 | NSD1 | c.2445T>G (p.Ser815=) n.612+7425T>G n.2901T>G c.3009T>G (p.Ser1003=) n.2715T>G c.3318T>G (p.Ser1106=) n.3465T>G c.2511T>G (p.Ser837=) c.2898T>G (p.Ser966=) c.2262T>G (p.Ser754=) c.-678T>G (n.-678T>G) | |
5 | g.177211718G>A | CA362323662 | NSD1 | c.2446G>A (p.Asp816Asn) n.612+7426G>A n.2902G>A c.3010G>A (p.Asp1004Asn) n.2716G>A c.3319G>A (p.Asp1107Asn) n.3466G>A c.2512G>A (p.Asp838Asn) c.2899G>A (p.Asp967Asn) c.2263G>A (p.Asp755Asn) c.-677G>A (n.-677G>A) | |
5 | g.177211718G>C | CA362323665 | NSD1 | c.2446G>C (p.Asp816His) n.612+7426G>C n.2902G>C c.3010G>C (p.Asp1004His) n.2716G>C c.3319G>C (p.Asp1107His) n.3466G>C c.2512G>C (p.Asp838His) c.2899G>C (p.Asp967His) c.2263G>C (p.Asp755His) c.-677G>C (n.-677G>C) | |
5 | g.177211718G>T | CA362323668 | NSD1 | c.2446G>T (p.Asp816Tyr) n.612+7426G>T n.2902G>T c.3010G>T (p.Asp1004Tyr) n.2716G>T c.3319G>T (p.Asp1107Tyr) n.3466G>T c.2512G>T (p.Asp838Tyr) c.2899G>T (p.Asp967Tyr) c.2263G>T (p.Asp755Tyr) c.-677G>T (n.-677G>T) | |
5 | g.177211719A>C | CA362323671 | NSD1 | c.2447A>C (p.Asp816Ala) n.612+7427A>C n.2903A>C c.3011A>C (p.Asp1004Ala) n.2717A>C c.3320A>C (p.Asp1107Ala) n.3467A>C c.2513A>C (p.Asp838Ala) c.2900A>C (p.Asp967Ala) c.2264A>C (p.Asp755Ala) c.-676A>C (n.-676A>C) | |
5 | g.177211719A>G | CA362323673 | NSD1 | c.2447A>G (p.Asp816Gly) n.612+7427A>G n.2903A>G c.3011A>G (p.Asp1004Gly) n.2717A>G c.3320A>G (p.Asp1107Gly) n.3467A>G c.2513A>G (p.Asp838Gly) c.2900A>G (p.Asp967Gly) c.2264A>G (p.Asp755Gly) c.-676A>G (n.-676A>G) | |
5 | g.177211719A>T | CA362323675 | NSD1 | c.2447A>T (p.Asp816Val) n.612+7427A>T n.2903A>T c.3011A>T (p.Asp1004Val) n.2717A>T c.3320A>T (p.Asp1107Val) n.3467A>T c.2513A>T (p.Asp838Val) c.2900A>T (p.Asp967Val) c.2264A>T (p.Asp755Val) c.-676A>T (n.-676A>T) | |
5 | g.177211720T>A | CA362323680 | NSD1 | c.2448T>A (p.Asp816Glu) n.612+7428T>A n.2904T>A c.3012T>A (p.Asp1004Glu) n.2718T>A c.3321T>A (p.Asp1107Glu) n.3468T>A c.2514T>A (p.Asp838Glu) c.2901T>A (p.Asp967Glu) c.2265T>A (p.Asp755Glu) c.-675T>A (n.-675T>A) | |
5 | g.177211720T>C | CA447961069 | NSD1 | c.2448T>C (p.Asp816=) n.612+7428T>C n.2904T>C c.3012T>C (p.Asp1004=) n.2718T>C c.3321T>C (p.Asp1107=) n.3468T>C c.2514T>C (p.Asp838=) c.2901T>C (p.Asp967=) c.2265T>C (p.Asp755=) c.-675T>C (n.-675T>C) | ClinVar |
5 | g.177211720T>G | CA362323682 | NSD1 | c.2448T>G (p.Asp816Glu) n.612+7428T>G n.2904T>G c.3012T>G (p.Asp1004Glu) n.2718T>G c.3321T>G (p.Asp1107Glu) n.3468T>G c.2514T>G (p.Asp838Glu) c.2901T>G (p.Asp967Glu) c.2265T>G (p.Asp755Glu) c.-675T>G (n.-675T>G) | |
5 | g.177211720_177211721insA | CA2550006446 | NSD1 | c.2448_2449insA (p.Val817SerfsTer5) n.612+7428_612+7429insA n.2904_2905insA c.3012_3013insA (p.Val1005SerfsTer5) n.2718_2719insA c.3321_3322insA (p.Val1108SerfsTer5) n.3468_3469insA c.2514_2515insA (p.Val839SerfsTer5) c.2901_2902insA (p.Val968SerfsTer5) c.2265_2266insA (p.Val756SerfsTer5) c.-675_-674insA (n.-675_-674insA) | |
5 | g.177211721G>A | CA362323688 | NSD1 | c.2449G>A (p.Val817Met) n.612+7429G>A n.2905G>A c.3013G>A (p.Val1005Met) n.2719G>A c.3322G>A (p.Val1108Met) n.3469G>A c.2515G>A (p.Val839Met) c.2902G>A (p.Val968Met) c.2266G>A (p.Val756Met) c.-674G>A (n.-674G>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211721G>C | CA362323690 | NSD1 | c.2449G>C (p.Val817Leu) n.612+7429G>C n.2905G>C c.3013G>C (p.Val1005Leu) n.2719G>C c.3322G>C (p.Val1108Leu) n.3469G>C c.2515G>C (p.Val839Leu) c.2902G>C (p.Val968Leu) c.2266G>C (p.Val756Leu) c.-674G>C (n.-674G>C) | |
5 | g.177211721G= | CA1603478742 | NSD1 | c.2449G= (p.Val817=) n.612+7429G= n.2905G= c.3013G= (p.Val1005=) n.2719G= c.3322G= (p.Val1108=) n.3469G= c.2515G= (p.Val839=) c.2902G= (p.Val968=) c.2266G= (p.Val756=) c.-674G= (n.-674G=) | |
5 | g.177211721G>T | CA362323685 | NSD1 | c.2449G>T (p.Val817Leu) n.612+7429G>T n.2905G>T c.3013G>T (p.Val1005Leu) n.2719G>T c.3322G>T (p.Val1108Leu) n.3469G>T c.2515G>T (p.Val839Leu) c.2902G>T (p.Val968Leu) c.2266G>T (p.Val756Leu) c.-674G>T (n.-674G>T) | |
5 | g.177211722T>A | CA362323698 | NSD1 | c.2450T>A (p.Val817Glu) n.612+7430T>A n.2906T>A c.3014T>A (p.Val1005Glu) n.2720T>A c.3323T>A (p.Val1108Glu) n.3470T>A c.2516T>A (p.Val839Glu) c.2903T>A (p.Val968Glu) c.2267T>A (p.Val756Glu) c.-673T>A (n.-673T>A) | |
5 | g.177211722T>C | CA362323693 | NSD1 | c.2450T>C (p.Val817Ala) n.612+7430T>C n.2906T>C c.3014T>C (p.Val1005Ala) n.2720T>C c.3323T>C (p.Val1108Ala) n.3470T>C c.2516T>C (p.Val839Ala) c.2903T>C (p.Val968Ala) c.2267T>C (p.Val756Ala) c.-673T>C (n.-673T>C) | ClinVar dbSNP |
5 | g.177211722T>G | CA3577415 | NSD1 | c.2450T>G (p.Val817Gly) n.612+7430T>G n.2906T>G c.3014T>G (p.Val1005Gly) n.2720T>G c.3323T>G (p.Val1108Gly) n.3470T>G c.2516T>G (p.Val839Gly) c.2903T>G (p.Val968Gly) c.2267T>G (p.Val756Gly) c.-673T>G (n.-673T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211722T= | CA1603478746 | NSD1 | c.2450T= (p.Val817=) n.612+7430T= n.2906T= c.3014T= (p.Val1005=) n.2720T= c.3323T= (p.Val1108=) n.3470T= c.2516T= (p.Val839=) c.2903T= (p.Val968=) c.2267T= (p.Val756=) c.-673T= (n.-673T=) | |
5 | g.177211723G>A | CA447961070 | NSD1 | c.2451G>A (p.Val817=) n.612+7431G>A n.2907G>A c.3015G>A (p.Val1005=) n.2721G>A c.3324G>A (p.Val1108=) n.3471G>A c.2517G>A (p.Val839=) c.2904G>A (p.Val968=) c.2268G>A (p.Val756=) c.-672G>A (n.-672G>A) | dbSNP |
5 | g.177211723G>C | CA447961071 | NSD1 | c.2451G>C (p.Val817=) n.612+7431G>C n.2907G>C c.3015G>C (p.Val1005=) n.2721G>C c.3324G>C (p.Val1108=) n.3471G>C c.2517G>C (p.Val839=) c.2904G>C (p.Val968=) c.2268G>C (p.Val756=) c.-672G>C (n.-672G>C) | |
5 | g.177211723G>T | CA447961072 | NSD1 | c.2451G>T (p.Val817=) n.612+7431G>T n.2907G>T c.3015G>T (p.Val1005=) n.2721G>T c.3324G>T (p.Val1108=) n.3471G>T c.2517G>T (p.Val839=) c.2904G>T (p.Val968=) c.2268G>T (p.Val756=) c.-672G>T (n.-672G>T) | |
5 | g.177211723_177211725del | CA2501532953 | NSD1 | c.2451_2453del (p.His818del) n.612+7431_612+7433del n.2907_2909del c.3015_3017del (p.His1006del) n.2721_2723del c.3324_3326del (p.His1109del) n.3471_3473del c.2517_2519del (p.His840del) c.2904_2906del (p.His969del) c.2268_2270del (p.His757del) c.-672_-670del (n.-672_-670del) | |
5 | g.177211724C>A | CA362323702 | NSD1 | c.2452C>A (p.His818Asn) n.612+7432C>A n.2908C>A c.3016C>A (p.His1006Asn) n.2722C>A c.3325C>A (p.His1109Asn) n.3472C>A c.2518C>A (p.His840Asn) c.2905C>A (p.His969Asn) c.2269C>A (p.His757Asn) c.-671C>A (n.-671C>A) | |
5 | g.177211724C= | CA1603478749 | NSD1 | c.2452C= (p.His818=) n.612+7432C= n.2908C= c.3016C= (p.His1006=) n.2722C= c.3325C= (p.His1109=) n.3472C= c.2518C= (p.His840=) c.2905C= (p.His969=) c.2269C= (p.His757=) c.-671C= (n.-671C=) | |
5 | g.177211724C>G | CA362323705 | NSD1 | c.2452C>G (p.His818Asp) n.612+7432C>G n.2908C>G c.3016C>G (p.His1006Asp) n.2722C>G c.3325C>G (p.His1109Asp) n.3472C>G c.2518C>G (p.His840Asp) c.2905C>G (p.His969Asp) c.2269C>G (p.His757Asp) c.-671C>G (n.-671C>G) | |
5 | g.177211724C>T | CA362323709 | NSD1 | c.2452C>T (p.His818Tyr) n.612+7432C>T n.2908C>T c.3016C>T (p.His1006Tyr) n.2722C>T c.3325C>T (p.His1109Tyr) n.3472C>T c.2518C>T (p.His840Tyr) c.2905C>T (p.His969Tyr) c.2269C>T (p.His757Tyr) c.-671C>T (n.-671C>T) | dbSNP |
5 | g.177211725A>C | CA362323713 | NSD1 | c.2453A>C (p.His818Pro) n.612+7433A>C n.2909A>C c.3017A>C (p.His1006Pro) n.2723A>C c.3326A>C (p.His1109Pro) n.3473A>C c.2519A>C (p.His840Pro) c.2906A>C (p.His969Pro) c.2270A>C (p.His757Pro) c.-670A>C (n.-670A>C) | |
5 | g.177211725A>G | CA362323716 | NSD1 | c.2453A>G (p.His818Arg) n.612+7433A>G n.2909A>G c.3017A>G (p.His1006Arg) n.2723A>G c.3326A>G (p.His1109Arg) n.3473A>G c.2519A>G (p.His840Arg) c.2906A>G (p.His969Arg) c.2270A>G (p.His757Arg) c.-670A>G (n.-670A>G) | |
5 | g.177211725A>T | CA362323719 | NSD1 | c.2453A>T (p.His818Leu) n.612+7433A>T n.2909A>T c.3017A>T (p.His1006Leu) n.2723A>T c.3326A>T (p.His1109Leu) n.3473A>T c.2519A>T (p.His840Leu) c.2906A>T (p.His969Leu) c.2270A>T (p.His757Leu) c.-670A>T (n.-670A>T) | dbSNP |
5 | g.177211726T>A | CA362323723 | NSD1 | c.2454T>A (p.His818Gln) n.612+7434T>A n.2910T>A c.3018T>A (p.His1006Gln) n.2724T>A c.3327T>A (p.His1109Gln) n.3474T>A c.2520T>A (p.His840Gln) c.2907T>A (p.His969Gln) c.2271T>A (p.His757Gln) c.-669T>A (n.-669T>A) | |
5 | g.177211726T>C | CA447961073 | NSD1 | c.2454T>C (p.His818=) n.612+7434T>C n.2910T>C c.3018T>C (p.His1006=) n.2724T>C c.3327T>C (p.His1109=) n.3474T>C c.2520T>C (p.His840=) c.2907T>C (p.His969=) c.2271T>C (p.His757=) c.-669T>C (n.-669T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211726T>G | CA362323726 | NSD1 | c.2454T>G (p.His818Gln) n.612+7434T>G n.2910T>G c.3018T>G (p.His1006Gln) n.2724T>G c.3327T>G (p.His1109Gln) n.3474T>G c.2520T>G (p.His840Gln) c.2907T>G (p.His969Gln) c.2271T>G (p.His757Gln) c.-669T>G (n.-669T>G) | |
5 | g.177211726T= | CA1603478755 | NSD1 | c.2454T= (p.His818=) n.612+7434T= n.2910T= c.3018T= (p.His1006=) n.2724T= c.3327T= (p.His1109=) n.3474T= c.2520T= (p.His840=) c.2907T= (p.His969=) c.2271T= (p.His757=) c.-669T= (n.-669T=) | |
5 | g.177211727T>A | CA362323732 | NSD1 | c.2455T>A (p.Phe819Ile) n.612+7435T>A n.2911T>A c.3019T>A (p.Phe1007Ile) n.2725T>A c.3328T>A (p.Phe1110Ile) n.3475T>A c.2521T>A (p.Phe841Ile) c.2908T>A (p.Phe970Ile) c.2272T>A (p.Phe758Ile) c.-668T>A (n.-668T>A) | |
5 | g.177211727T>C | CA362323735 | NSD1 | c.2455T>C (p.Phe819Leu) n.612+7435T>C n.2911T>C c.3019T>C (p.Phe1007Leu) n.2725T>C c.3328T>C (p.Phe1110Leu) n.3475T>C c.2521T>C (p.Phe841Leu) c.2908T>C (p.Phe970Leu) c.2272T>C (p.Phe758Leu) c.-668T>C (n.-668T>C) | |
5 | g.177211727T>G | CA362323738 | NSD1 | c.2455T>G (p.Phe819Val) n.612+7435T>G n.2911T>G c.3019T>G (p.Phe1007Val) n.2725T>G c.3328T>G (p.Phe1110Val) n.3475T>G c.2521T>G (p.Phe841Val) c.2908T>G (p.Phe970Val) c.2272T>G (p.Phe758Val) c.-668T>G (n.-668T>G) | |
5 | g.177211728T>A | CA362323742 | NSD1 | c.2456T>A (p.Phe819Tyr) n.612+7436T>A n.2912T>A c.3020T>A (p.Phe1007Tyr) n.2726T>A c.3329T>A (p.Phe1110Tyr) n.3476T>A c.2522T>A (p.Phe841Tyr) c.2909T>A (p.Phe970Tyr) c.2273T>A (p.Phe758Tyr) c.-667T>A (n.-667T>A) | |
5 | g.177211728T>C | CA362323750 | NSD1 | c.2456T>C (p.Phe819Ser) n.612+7436T>C n.2912T>C c.3020T>C (p.Phe1007Ser) n.2726T>C c.3329T>C (p.Phe1110Ser) n.3476T>C c.2522T>C (p.Phe841Ser) c.2909T>C (p.Phe970Ser) c.2273T>C (p.Phe758Ser) c.-667T>C (n.-667T>C) | |
5 | g.177211728T>G | CA362323747 | NSD1 | c.2456T>G (p.Phe819Cys) n.612+7436T>G n.2912T>G c.3020T>G (p.Phe1007Cys) n.2726T>G c.3329T>G (p.Phe1110Cys) n.3476T>G c.2522T>G (p.Phe841Cys) c.2909T>G (p.Phe970Cys) c.2273T>G (p.Phe758Cys) c.-667T>G (n.-667T>G) | |
5 | g.177211729del | CA2509276686 | NSD1 | c.2457del (p.Phe819LeufsTer?) n.612+7437del n.2913del c.3021del (p.Phe1007LeufsTer?) n.2727del c.3330del (p.Phe1110LeufsTer?) n.3477del c.2523del (p.Phe841LeufsTer?) c.2910del (p.Phe970LeufsTer?) c.2274del (p.Phe758LeufsTer?) c.-666del (n.-666del) | |
5 | g.177211729C>A | CA362323755 | NSD1 | c.2457C>A (p.Phe819Leu) n.612+7437C>A n.2913C>A c.3021C>A (p.Phe1007Leu) n.2727C>A c.3330C>A (p.Phe1110Leu) n.3477C>A c.2523C>A (p.Phe841Leu) c.2910C>A (p.Phe970Leu) c.2274C>A (p.Phe758Leu) c.-666C>A (n.-666C>A) | COSMIC COSMIC |
5 | g.177211729C= | CA1603478765 | NSD1 | c.2457C= (p.Phe819=) n.612+7437C= n.2913C= c.3021C= (p.Phe1007=) n.2727C= c.3330C= (p.Phe1110=) n.3477C= c.2523C= (p.Phe841=) c.2910C= (p.Phe970=) c.2274C= (p.Phe758=) c.-666C= (n.-666C=) | |
5 | g.177211729C>G | CA362323758 | NSD1 | c.2457C>G (p.Phe819Leu) n.612+7437C>G n.2913C>G c.3021C>G (p.Phe1007Leu) n.2727C>G c.3330C>G (p.Phe1110Leu) n.3477C>G c.2523C>G (p.Phe841Leu) c.2910C>G (p.Phe970Leu) c.2274C>G (p.Phe758Leu) c.-666C>G (n.-666C>G) | dbSNP |
5 | g.177211729C>T | CA3577416 | NSD1 | c.2457C>T (p.Phe819=) n.612+7437C>T n.2913C>T c.3021C>T (p.Phe1007=) n.2727C>T c.3330C>T (p.Phe1110=) n.3477C>T c.2523C>T (p.Phe841=) c.2910C>T (p.Phe970=) c.2274C>T (p.Phe758=) c.-666C>T (n.-666C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.177211730G>A | CA3577417 | NSD1 | c.2458G>A (p.Asp820Asn) n.612+7438G>A n.2914G>A c.3022G>A (p.Asp1008Asn) n.2728G>A c.3331G>A (p.Asp1111Asn) n.3478G>A c.2524G>A (p.Asp842Asn) c.2911G>A (p.Asp971Asn) c.2275G>A (p.Asp759Asn) c.-665G>A (n.-665G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211730G>C | CA362323767 | NSD1 | c.2458G>C (p.Asp820His) n.612+7438G>C n.2914G>C c.3022G>C (p.Asp1008His) n.2728G>C c.3331G>C (p.Asp1111His) n.3478G>C c.2524G>C (p.Asp842His) c.2911G>C (p.Asp971His) c.2275G>C (p.Asp759His) c.-665G>C (n.-665G>C) | |
5 | g.177211730G= | CA1603478782 | NSD1 | c.2458G= (p.Asp820=) n.612+7438G= n.2914G= c.3022G= (p.Asp1008=) n.2728G= c.3331G= (p.Asp1111=) n.3478G= c.2524G= (p.Asp842=) c.2911G= (p.Asp971=) c.2275G= (p.Asp759=) c.-665G= (n.-665G=) | |
5 | g.177211730G>T | CA362323769 | NSD1 | c.2458G>T (p.Asp820Tyr) n.612+7438G>T n.2914G>T c.3022G>T (p.Asp1008Tyr) n.2728G>T c.3331G>T (p.Asp1111Tyr) n.3478G>T c.2524G>T (p.Asp842Tyr) c.2911G>T (p.Asp971Tyr) c.2275G>T (p.Asp759Tyr) c.-665G>T (n.-665G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.177211731A= | CA1603478784 | NSD1 | c.2459A= (p.Asp820=) n.612+7439A= n.2915A= c.3023A= (p.Asp1008=) n.2729A= c.3332A= (p.Asp1111=) n.3479A= c.2525A= (p.Asp842=) c.2912A= (p.Asp971=) c.2276A= (p.Asp759=) c.-664A= (n.-664A=) | |
5 | g.177211731A>C | CA362323774 | NSD1 | c.2459A>C (p.Asp820Ala) n.612+7439A>C n.2915A>C c.3023A>C (p.Asp1008Ala) n.2729A>C c.3332A>C (p.Asp1111Ala) n.3479A>C c.2525A>C (p.Asp842Ala) c.2912A>C (p.Asp971Ala) c.2276A>C (p.Asp759Ala) c.-664A>C (n.-664A>C) | |
5 | g.177211731A>G | CA362323776 | NSD1 | c.2459A>G (p.Asp820Gly) n.612+7439A>G n.2915A>G c.3023A>G (p.Asp1008Gly) n.2729A>G c.3332A>G (p.Asp1111Gly) n.3479A>G c.2525A>G (p.Asp842Gly) c.2912A>G (p.Asp971Gly) c.2276A>G (p.Asp759Gly) c.-664A>G (n.-664A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211731A>T | CA362323778 | NSD1 | c.2459A>T (p.Asp820Val) n.612+7439A>T n.2915A>T c.3023A>T (p.Asp1008Val) n.2729A>T c.3332A>T (p.Asp1111Val) n.3479A>T c.2525A>T (p.Asp842Val) c.2912A>T (p.Asp971Val) c.2276A>T (p.Asp759Val) c.-664A>T (n.-664A>T) | |
5 | g.177211732T>A | CA362323783 | NSD1 | c.2460T>A (p.Asp820Glu) n.612+7440T>A n.2916T>A c.3024T>A (p.Asp1008Glu) n.2730T>A c.3333T>A (p.Asp1111Glu) n.3480T>A c.2526T>A (p.Asp842Glu) c.2913T>A (p.Asp971Glu) c.2277T>A (p.Asp759Glu) c.-663T>A (n.-663T>A) | |
5 | g.177211732T>C | CA447961074 | NSD1 | c.2460T>C (p.Asp820=) n.612+7440T>C n.2916T>C c.3024T>C (p.Asp1008=) n.2730T>C c.3333T>C (p.Asp1111=) n.3480T>C c.2526T>C (p.Asp842=) c.2913T>C (p.Asp971=) c.2277T>C (p.Asp759=) c.-663T>C (n.-663T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211732T>G | CA362323785 | NSD1 | c.2460T>G (p.Asp820Glu) n.612+7440T>G n.2916T>G c.3024T>G (p.Asp1008Glu) n.2730T>G c.3333T>G (p.Asp1111Glu) n.3480T>G c.2526T>G (p.Asp842Glu) c.2913T>G (p.Asp971Glu) c.2277T>G (p.Asp759Glu) c.-663T>G (n.-663T>G) | dbSNP |
5 | g.177211732T= | CA1603478788 | NSD1 | c.2460T= (p.Asp820=) n.612+7440T= n.2916T= c.3024T= (p.Asp1008=) n.2730T= c.3333T= (p.Asp1111=) n.3480T= c.2526T= (p.Asp842=) c.2913T= (p.Asp971=) c.2277T= (p.Asp759=) c.-663T= (n.-663T=) | |
5 | g.177211733A= | CA1603478789 | NSD1 | c.2461A= (p.Ser821=) n.612+7441A= n.2917A= c.3025A= (p.Ser1009=) n.2731A= c.3334A= (p.Ser1112=) n.3481A= c.2527A= (p.Ser843=) c.2914A= (p.Ser972=) c.2278A= (p.Ser760=) c.-662A= (n.-662A=) | |
5 | g.177211733A>C | CA362323794 | NSD1 | c.2461A>C (p.Ser821Arg) n.612+7441A>C n.2917A>C c.3025A>C (p.Ser1009Arg) n.2731A>C c.3334A>C (p.Ser1112Arg) n.3481A>C c.2527A>C (p.Ser843Arg) c.2914A>C (p.Ser972Arg) c.2278A>C (p.Ser760Arg) c.-662A>C (n.-662A>C) | |
5 | g.177211733A>G | CA3577418 | NSD1 | c.2461A>G (p.Ser821Gly) n.612+7441A>G n.2917A>G c.3025A>G (p.Ser1009Gly) n.2731A>G c.3334A>G (p.Ser1112Gly) n.3481A>G c.2527A>G (p.Ser843Gly) c.2914A>G (p.Ser972Gly) c.2278A>G (p.Ser760Gly) c.-662A>G (n.-662A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211733A>T | CA362323792 | NSD1 | c.2461A>T (p.Ser821Cys) n.612+7441A>T n.2917A>T c.3025A>T (p.Ser1009Cys) n.2731A>T c.3334A>T (p.Ser1112Cys) n.3481A>T c.2527A>T (p.Ser843Cys) c.2914A>T (p.Ser972Cys) c.2278A>T (p.Ser760Cys) c.-662A>T (n.-662A>T) | |
5 | g.177211734G>A | CA132831345 | NSD1 | c.2462G>A (p.Ser821Asn) n.612+7442G>A n.2918G>A c.3026G>A (p.Ser1009Asn) n.2732G>A c.3335G>A (p.Ser1112Asn) n.3482G>A c.2528G>A (p.Ser843Asn) c.2915G>A (p.Ser972Asn) c.2279G>A (p.Ser760Asn) c.-661G>A (n.-661G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211734G>C | CA362323802 | NSD1 | c.2462G>C (p.Ser821Thr) n.612+7442G>C n.2918G>C c.3026G>C (p.Ser1009Thr) n.2732G>C c.3335G>C (p.Ser1112Thr) n.3482G>C c.2528G>C (p.Ser843Thr) c.2915G>C (p.Ser972Thr) c.2279G>C (p.Ser760Thr) c.-661G>C (n.-661G>C) | |
5 | g.177211734G= | CA1603478792 | NSD1 | c.2462G= (p.Ser821=) n.612+7442G= n.2918G= c.3026G= (p.Ser1009=) n.2732G= c.3335G= (p.Ser1112=) n.3482G= c.2528G= (p.Ser843=) c.2915G= (p.Ser972=) c.2279G= (p.Ser760=) c.-661G= (n.-661G=) | |
5 | g.177211734G>T | CA362323805 | NSD1 | c.2462G>T (p.Ser821Ile) n.612+7442G>T n.2918G>T c.3026G>T (p.Ser1009Ile) n.2732G>T c.3335G>T (p.Ser1112Ile) n.3482G>T c.2528G>T (p.Ser843Ile) c.2915G>T (p.Ser972Ile) c.2279G>T (p.Ser760Ile) c.-661G>T (n.-661G>T) | |
5 | g.177211735C>A | CA362323807 | NSD1 | c.2463C>A (p.Ser821Arg) n.612+7443C>A n.2919C>A c.3027C>A (p.Ser1009Arg) n.2733C>A c.3336C>A (p.Ser1112Arg) n.3483C>A c.2529C>A (p.Ser843Arg) c.2916C>A (p.Ser972Arg) c.2280C>A (p.Ser760Arg) c.-660C>A (n.-660C>A) | dbSNP |
5 | g.177211735C= | CA1603478796 | NSD1 | c.2463C= (p.Ser821=) n.612+7443C= n.2919C= c.3027C= (p.Ser1009=) n.2733C= c.3336C= (p.Ser1112=) n.3483C= c.2529C= (p.Ser843=) c.2916C= (p.Ser972=) c.2280C= (p.Ser760=) c.-660C= (n.-660C=) | |
5 | g.177211735C>G | CA132831347 | NSD1 | c.2463C>G (p.Ser821Arg) n.612+7443C>G n.2919C>G c.3027C>G (p.Ser1009Arg) n.2733C>G c.3336C>G (p.Ser1112Arg) n.3483C>G c.2529C>G (p.Ser843Arg) c.2916C>G (p.Ser972Arg) c.2280C>G (p.Ser760Arg) c.-660C>G (n.-660C>G) | dbSNP |
5 | g.177211735C>T | CA447961075 | NSD1 | c.2463C>T (p.Ser821=) n.612+7443C>T n.2919C>T c.3027C>T (p.Ser1009=) n.2733C>T c.3336C>T (p.Ser1112=) n.3483C>T c.2529C>T (p.Ser843=) c.2916C>T (p.Ser972=) c.2280C>T (p.Ser760=) c.-660C>T (n.-660C>T) | |
5 | g.177211736A>C | CA362323817 | NSD1 | c.2464A>C (p.Lys822Gln) n.612+7444A>C n.2920A>C c.3028A>C (p.Lys1010Gln) n.2734A>C c.3337A>C (p.Lys1113Gln) n.3484A>C c.2530A>C (p.Lys844Gln) c.2917A>C (p.Lys973Gln) c.2281A>C (p.Lys761Gln) c.-659A>C (n.-659A>C) | |
5 | g.177211736A>G | CA362323819 | NSD1 | c.2464A>G (p.Lys822Glu) n.612+7444A>G n.2920A>G c.3028A>G (p.Lys1010Glu) n.2734A>G c.3337A>G (p.Lys1113Glu) n.3484A>G c.2530A>G (p.Lys844Glu) c.2917A>G (p.Lys973Glu) c.2281A>G (p.Lys761Glu) c.-659A>G (n.-659A>G) | |
5 | g.177211736A>T | CA362323825 | NSD1 | c.2464A>T (p.Lys822Ter) n.612+7444A>T n.2920A>T c.3028A>T (p.Lys1010Ter) n.2734A>T c.3337A>T (p.Lys1113Ter) n.3484A>T c.2530A>T (p.Lys844Ter) c.2917A>T (p.Lys973Ter) c.2281A>T (p.Lys761Ter) c.-659A>T (n.-659A>T) | |
5 | g.177211737A>C | CA362323827 | NSD1 | c.2465A>C (p.Lys822Thr) n.612+7445A>C n.2921A>C c.3029A>C (p.Lys1010Thr) n.2735A>C c.3338A>C (p.Lys1113Thr) n.3485A>C c.2531A>C (p.Lys844Thr) c.2918A>C (p.Lys973Thr) c.2282A>C (p.Lys761Thr) c.-658A>C (n.-658A>C) | |
5 | g.177211737A>G | CA362323829 | NSD1 | c.2465A>G (p.Lys822Arg) n.612+7445A>G n.2921A>G c.3029A>G (p.Lys1010Arg) n.2735A>G c.3338A>G (p.Lys1113Arg) n.3485A>G c.2531A>G (p.Lys844Arg) c.2918A>G (p.Lys973Arg) c.2282A>G (p.Lys761Arg) c.-658A>G (n.-658A>G) | |
5 | g.177211737A>T | CA362323831 | NSD1 | c.2465A>T (p.Lys822Met) n.612+7445A>T n.2921A>T c.3029A>T (p.Lys1010Met) n.2735A>T c.3338A>T (p.Lys1113Met) n.3485A>T c.2531A>T (p.Lys844Met) c.2918A>T (p.Lys973Met) c.2282A>T (p.Lys761Met) c.-658A>T (n.-658A>T) | |
5 | g.177211738G>A | CA447961076 | NSD1 | c.2466G>A (p.Lys822=) n.612+7446G>A n.2922G>A c.3030G>A (p.Lys1010=) n.2736G>A c.3339G>A (p.Lys1113=) n.3486G>A c.2532G>A (p.Lys844=) c.2919G>A (p.Lys973=) c.2283G>A (p.Lys761=) c.-657G>A (n.-657G>A) | |
5 | g.177211738G>C | CA362323836 | NSD1 | c.2466G>C (p.Lys822Asn) n.612+7446G>C n.2922G>C c.3030G>C (p.Lys1010Asn) n.2736G>C c.3339G>C (p.Lys1113Asn) n.3486G>C c.2532G>C (p.Lys844Asn) c.2919G>C (p.Lys973Asn) c.2283G>C (p.Lys761Asn) c.-657G>C (n.-657G>C) | |
5 | g.177211738G>T | CA362323840 | NSD1 | c.2466G>T (p.Lys822Asn) n.612+7446G>T n.2922G>T c.3030G>T (p.Lys1010Asn) n.2736G>T c.3339G>T (p.Lys1113Asn) n.3486G>T c.2532G>T (p.Lys844Asn) c.2919G>T (p.Lys973Asn) c.2283G>T (p.Lys761Asn) c.-657G>T (n.-657G>T) | |
5 | g.177211739G>A | CA362323848 | NSD1 | c.2467G>A (p.Val823Ile) n.612+7447G>A n.2923G>A c.3031G>A (p.Val1011Ile) n.2737G>A c.3340G>A (p.Val1114Ile) n.3487G>A c.2533G>A (p.Val845Ile) c.2920G>A (p.Val974Ile) c.2284G>A (p.Val762Ile) c.-656G>A (n.-656G>A) | |
5 | g.177211739G>C | CA362323850 | NSD1 | c.2467G>C (p.Val823Leu) n.612+7447G>C n.2923G>C c.3031G>C (p.Val1011Leu) n.2737G>C c.3340G>C (p.Val1114Leu) n.3487G>C c.2533G>C (p.Val845Leu) c.2920G>C (p.Val974Leu) c.2284G>C (p.Val762Leu) c.-656G>C (n.-656G>C) | |
5 | g.177211739G>T | CA362323845 | NSD1 | c.2467G>T (p.Val823Phe) n.612+7447G>T n.2923G>T c.3031G>T (p.Val1011Phe) n.2737G>T c.3340G>T (p.Val1114Phe) n.3487G>T c.2533G>T (p.Val845Phe) c.2920G>T (p.Val974Phe) c.2284G>T (p.Val762Phe) c.-656G>T (n.-656G>T) | ClinVar |
5 | g.177211740T>A | CA362323854 | NSD1 | c.2468T>A (p.Val823Asp) n.612+7448T>A n.2924T>A c.3032T>A (p.Val1011Asp) n.2738T>A c.3341T>A (p.Val1114Asp) n.3488T>A c.2534T>A (p.Val845Asp) c.2921T>A (p.Val974Asp) c.2285T>A (p.Val762Asp) c.-655T>A (n.-655T>A) | |
5 | g.177211740T>C | CA362323856 | NSD1 | c.2468T>C (p.Val823Ala) n.612+7448T>C n.2924T>C c.3032T>C (p.Val1011Ala) n.2738T>C c.3341T>C (p.Val1114Ala) n.3488T>C c.2534T>C (p.Val845Ala) c.2921T>C (p.Val974Ala) c.2285T>C (p.Val762Ala) c.-655T>C (n.-655T>C) | |
5 | g.177211740T>G | CA362323859 | NSD1 | c.2468T>G (p.Val823Gly) n.612+7448T>G n.2924T>G c.3032T>G (p.Val1011Gly) n.2738T>G c.3341T>G (p.Val1114Gly) n.3488T>G c.2534T>G (p.Val845Gly) c.2921T>G (p.Val974Gly) c.2285T>G (p.Val762Gly) c.-655T>G (n.-655T>G) | |
5 | g.177211741T>A | CA447961077 | NSD1 | c.2469T>A (p.Val823=) n.612+7449T>A n.2925T>A c.3033T>A (p.Val1011=) n.2739T>A c.3342T>A (p.Val1114=) n.3489T>A c.2535T>A (p.Val845=) c.2922T>A (p.Val974=) c.2286T>A (p.Val762=) c.-654T>A (n.-654T>A) | |
5 | g.177211741T>C | CA447961078 | NSD1 | c.2469T>C (p.Val823=) n.612+7449T>C n.2925T>C c.3033T>C (p.Val1011=) n.2739T>C c.3342T>C (p.Val1114=) n.3489T>C c.2535T>C (p.Val845=) c.2922T>C (p.Val974=) c.2286T>C (p.Val762=) c.-654T>C (n.-654T>C) | |
5 | g.177211741T>G | CA447961079 | NSD1 | c.2469T>G (p.Val823=) n.612+7449T>G n.2925T>G c.3033T>G (p.Val1011=) n.2739T>G c.3342T>G (p.Val1114=) n.3489T>G c.2535T>G (p.Val845=) c.2922T>G (p.Val974=) c.2286T>G (p.Val762=) c.-654T>G (n.-654T>G) | |
5 | g.177211742A= | CA1603478800 | NSD1 | c.2470A= (p.Lys824=) n.612+7450A= n.2926A= c.3034A= (p.Lys1012=) n.2740A= c.3343A= (p.Lys1115=) n.3490A= c.2536A= (p.Lys846=) c.2923A= (p.Lys975=) c.2287A= (p.Lys763=) c.-653A= (n.-653A=) | |
5 | g.177211742A>C | CA362323863 | NSD1 | c.2470A>C (p.Lys824Gln) n.612+7450A>C n.2926A>C c.3034A>C (p.Lys1012Gln) n.2740A>C c.3343A>C (p.Lys1115Gln) n.3490A>C c.2536A>C (p.Lys846Gln) c.2923A>C (p.Lys975Gln) c.2287A>C (p.Lys763Gln) c.-653A>C (n.-653A>C) | |
5 | g.177211742A>G | CA362323865 | NSD1 | c.2470A>G (p.Lys824Glu) n.612+7450A>G n.2926A>G c.3034A>G (p.Lys1012Glu) n.2740A>G c.3343A>G (p.Lys1115Glu) n.3490A>G c.2536A>G (p.Lys846Glu) c.2923A>G (p.Lys975Glu) c.2287A>G (p.Lys763Glu) c.-653A>G (n.-653A>G) | dbSNP gnomAD v2 |
5 | g.177211742A>T | CA362323868 | NSD1 | c.2470A>T (p.Lys824Ter) n.612+7450A>T n.2926A>T c.3034A>T (p.Lys1012Ter) n.2740A>T c.3343A>T (p.Lys1115Ter) n.3490A>T c.2536A>T (p.Lys846Ter) c.2923A>T (p.Lys975Ter) c.2287A>T (p.Lys763Ter) c.-653A>T (n.-653A>T) | |
5 | g.177211743A= | CA1603478808 | NSD1 | c.2471A= (p.Lys824=) n.612+7451A= n.2927A= c.3035A= (p.Lys1012=) n.2741A= c.3344A= (p.Lys1115=) n.3491A= c.2537A= (p.Lys846=) c.2924A= (p.Lys975=) c.2288A= (p.Lys763=) c.-652A= (n.-652A=) | |
5 | g.177211743A>C | CA362323876 | NSD1 | c.2471A>C (p.Lys824Thr) n.612+7451A>C n.2927A>C c.3035A>C (p.Lys1012Thr) n.2741A>C c.3344A>C (p.Lys1115Thr) n.3491A>C c.2537A>C (p.Lys846Thr) c.2924A>C (p.Lys975Thr) c.2288A>C (p.Lys763Thr) c.-652A>C (n.-652A>C) | |
5 | g.177211743A>G | CA362323871 | NSD1 | c.2471A>G (p.Lys824Arg) n.612+7451A>G n.2927A>G c.3035A>G (p.Lys1012Arg) n.2741A>G c.3344A>G (p.Lys1115Arg) n.3491A>G c.2537A>G (p.Lys846Arg) c.2924A>G (p.Lys975Arg) c.2288A>G (p.Lys763Arg) c.-652A>G (n.-652A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211743A>T | CA362323874 | NSD1 | c.2471A>T (p.Lys824Met) n.612+7451A>T n.2927A>T c.3035A>T (p.Lys1012Met) n.2741A>T c.3344A>T (p.Lys1115Met) n.3491A>T c.2537A>T (p.Lys846Met) c.2924A>T (p.Lys975Met) c.2288A>T (p.Lys763Met) c.-652A>T (n.-652A>T) | dbSNP |
5 | g.177211744G>A | CA447961080 | NSD1 | c.2472G>A (p.Lys824=) n.612+7452G>A n.2928G>A c.3036G>A (p.Lys1012=) n.2742G>A c.3345G>A (p.Lys1115=) n.3492G>A c.2538G>A (p.Lys846=) c.2925G>A (p.Lys975=) c.2289G>A (p.Lys763=) c.-651G>A (n.-651G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.177211744G>C | CA362323880 | NSD1 | c.2472G>C (p.Lys824Asn) n.612+7452G>C n.2928G>C c.3036G>C (p.Lys1012Asn) n.2742G>C c.3345G>C (p.Lys1115Asn) n.3492G>C c.2538G>C (p.Lys846Asn) c.2925G>C (p.Lys975Asn) c.2289G>C (p.Lys763Asn) c.-651G>C (n.-651G>C) | |
5 | g.177211744G= | CA1603478814 | NSD1 | c.2472G= (p.Lys824=) n.612+7452G= n.2928G= c.3036G= (p.Lys1012=) n.2742G= c.3345G= (p.Lys1115=) n.3492G= c.2538G= (p.Lys846=) c.2925G= (p.Lys975=) c.2289G= (p.Lys763=) c.-651G= (n.-651G=) | |
5 | g.177211744G>T | CA362323883 | NSD1 | c.2472G>T (p.Lys824Asn) n.612+7452G>T n.2928G>T c.3036G>T (p.Lys1012Asn) n.2742G>T c.3345G>T (p.Lys1115Asn) n.3492G>T c.2538G>T (p.Lys846Asn) c.2925G>T (p.Lys975Asn) c.2289G>T (p.Lys763Asn) c.-651G>T (n.-651G>T) | |
5 | g.177211745C>A | CA362323889 | NSD1 | c.2473C>A (p.Gln825Lys) n.612+7453C>A n.2929C>A c.3037C>A (p.Gln1013Lys) n.2743C>A c.3346C>A (p.Gln1116Lys) n.3493C>A c.2539C>A (p.Gln847Lys) c.2926C>A (p.Gln976Lys) c.2290C>A (p.Gln764Lys) c.-650C>A (n.-650C>A) | gnomAD v4 |
5 | g.177211745C>G | CA362323892 | NSD1 | c.2473C>G (p.Gln825Glu) n.612+7453C>G n.2929C>G c.3037C>G (p.Gln1013Glu) n.2743C>G c.3346C>G (p.Gln1116Glu) n.3493C>G c.2539C>G (p.Gln847Glu) c.2926C>G (p.Gln976Glu) c.2290C>G (p.Gln764Glu) c.-650C>G (n.-650C>G) | dbSNP |
5 | g.177211745C>T | CA362323893 | NSD1 | c.2473C>T (p.Gln825Ter) n.612+7453C>T n.2929C>T c.3037C>T (p.Gln1013Ter) n.2743C>T c.3346C>T (p.Gln1116Ter) n.3493C>T c.2539C>T (p.Gln847Ter) c.2926C>T (p.Gln976Ter) c.2290C>T (p.Gln764Ter) c.-650C>T (n.-650C>T) | |
5 | g.177211746A= | CA1603478817 | NSD1 | c.2474A= (p.Gln825=) n.612+7454A= n.2930A= c.3038A= (p.Gln1013=) n.2744A= c.3347A= (p.Gln1116=) n.3494A= c.2540A= (p.Gln847=) c.2927A= (p.Gln976=) c.2291A= (p.Gln764=) c.-649A= (n.-649A=) | |
5 | g.177211746A>C | CA362323896 | NSD1 | c.2474A>C (p.Gln825Pro) n.612+7454A>C n.2930A>C c.3038A>C (p.Gln1013Pro) n.2744A>C c.3347A>C (p.Gln1116Pro) n.3494A>C c.2540A>C (p.Gln847Pro) c.2927A>C (p.Gln976Pro) c.2291A>C (p.Gln764Pro) c.-649A>C (n.-649A>C) | |
5 | g.177211746A>G | CA3577419 | NSD1 | c.2474A>G (p.Gln825Arg) n.612+7454A>G n.2930A>G c.3038A>G (p.Gln1013Arg) n.2744A>G c.3347A>G (p.Gln1116Arg) n.3494A>G c.2540A>G (p.Gln847Arg) c.2927A>G (p.Gln976Arg) c.2291A>G (p.Gln764Arg) c.-649A>G (n.-649A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211746A>T | CA362323899 | NSD1 | c.2474A>T (p.Gln825Leu) n.612+7454A>T n.2930A>T c.3038A>T (p.Gln1013Leu) n.2744A>T c.3347A>T (p.Gln1116Leu) n.3494A>T c.2540A>T (p.Gln847Leu) c.2927A>T (p.Gln976Leu) c.2291A>T (p.Gln764Leu) c.-649A>T (n.-649A>T) | |
5 | g.177211747dup | CA2739289455 | NSD1 | c.2475dup (p.Ser826IlefsTer2) n.612+7455dup n.2931dup c.3039dup (p.Ser1014IlefsTer2) n.2745dup c.3348dup (p.Ser1117IlefsTer2) n.3495dup c.2541dup (p.Ser848IlefsTer2) c.2928dup (p.Ser977IlefsTer2) c.2292dup (p.Ser765IlefsTer2) c.-648dup (n.-648dup) | |
5 | g.177211747A= | CA1603478820 | NSD1 | c.2475A= (p.Gln825=) n.612+7455A= n.2931A= c.3039A= (p.Gln1013=) n.2745A= c.3348A= (p.Gln1116=) n.3495A= c.2541A= (p.Gln847=) c.2928A= (p.Gln976=) c.2292A= (p.Gln764=) c.-648A= (n.-648A=) | |
5 | g.177211747A>C | CA362323906 | NSD1 | c.2475A>C (p.Gln825His) n.612+7455A>C n.2931A>C c.3039A>C (p.Gln1013His) n.2745A>C c.3348A>C (p.Gln1116His) n.3495A>C c.2541A>C (p.Gln847His) c.2928A>C (p.Gln976His) c.2292A>C (p.Gln764His) c.-648A>C (n.-648A>C) | gnomAD v4 |
5 | g.177211747A>G | CA447961081 | NSD1 | c.2475A>G (p.Gln825=) n.612+7455A>G n.2931A>G c.3039A>G (p.Gln1013=) n.2745A>G c.3348A>G (p.Gln1116=) n.3495A>G c.2541A>G (p.Gln847=) c.2928A>G (p.Gln976=) c.2292A>G (p.Gln764=) c.-648A>G (n.-648A>G) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
5 | g.177211747A>T | CA362323909 | NSD1 | c.2475A>T (p.Gln825His) n.612+7455A>T n.2931A>T c.3039A>T (p.Gln1013His) n.2745A>T c.3348A>T (p.Gln1116His) n.3495A>T c.2541A>T (p.Gln847His) c.2928A>T (p.Gln976His) c.2292A>T (p.Gln764His) c.-648A>T (n.-648A>T) | gnomAD v4 |
5 | g.177211748T>A | CA362323915 | NSD1 | c.2476T>A (p.Ser826Thr) n.612+7456T>A n.2932T>A c.3040T>A (p.Ser1014Thr) n.2746T>A c.3349T>A (p.Ser1117Thr) n.3496T>A c.2542T>A (p.Ser848Thr) c.2929T>A (p.Ser977Thr) c.2293T>A (p.Ser765Thr) c.-647T>A (n.-647T>A) | |
5 | g.177211748T>C | CA362323922 | NSD1 | c.2476T>C (p.Ser826Pro) n.612+7456T>C n.2932T>C c.3040T>C (p.Ser1014Pro) n.2746T>C c.3349T>C (p.Ser1117Pro) n.3496T>C c.2542T>C (p.Ser848Pro) c.2929T>C (p.Ser977Pro) c.2293T>C (p.Ser765Pro) c.-647T>C (n.-647T>C) | |
5 | g.177211748T>G | CA3577420 | NSD1 | c.2476T>G (p.Ser826Ala) n.612+7456T>G n.2932T>G c.3040T>G (p.Ser1014Ala) n.2746T>G c.3349T>G (p.Ser1117Ala) n.3496T>G c.2542T>G (p.Ser848Ala) c.2929T>G (p.Ser977Ala) c.2293T>G (p.Ser765Ala) c.-647T>G (n.-647T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211748T= | CA1603478823 | NSD1 | c.2476T= (p.Ser826=) n.612+7456T= n.2932T= c.3040T= (p.Ser1014=) n.2746T= c.3349T= (p.Ser1117=) n.3496T= c.2542T= (p.Ser848=) c.2929T= (p.Ser977=) c.2293T= (p.Ser765=) c.-647T= (n.-647T=) | |
5 | g.177211749C>A | CA362323927 | NSD1 | c.2477C>A (p.Ser826Tyr) n.612+7457C>A n.2933C>A c.3041C>A (p.Ser1014Tyr) n.2747C>A c.3350C>A (p.Ser1117Tyr) n.3497C>A c.2543C>A (p.Ser848Tyr) c.2930C>A (p.Ser977Tyr) c.2294C>A (p.Ser765Tyr) c.-646C>A (n.-646C>A) | dbSNP |
5 | g.177211749C= | CA1603478827 | NSD1 | c.2477C= (p.Ser826=) n.612+7457C= n.2933C= c.3041C= (p.Ser1014=) n.2747C= c.3350C= (p.Ser1117=) n.3497C= c.2543C= (p.Ser848=) c.2930C= (p.Ser977=) c.2294C= (p.Ser765=) c.-646C= (n.-646C=) | |
5 | g.177211749C>G | CA362323933 | NSD1 | c.2477C>G (p.Ser826Cys) n.612+7457C>G n.2933C>G c.3041C>G (p.Ser1014Cys) n.2747C>G c.3350C>G (p.Ser1117Cys) n.3497C>G c.2543C>G (p.Ser848Cys) c.2930C>G (p.Ser977Cys) c.2294C>G (p.Ser765Cys) c.-646C>G (n.-646C>G) | dbSNP gnomAD v2 |
5 | g.177211749C>T | CA362323929 | NSD1 | c.2477C>T (p.Ser826Phe) n.612+7457C>T n.2933C>T c.3041C>T (p.Ser1014Phe) n.2747C>T c.3350C>T (p.Ser1117Phe) n.3497C>T c.2543C>T (p.Ser848Phe) c.2930C>T (p.Ser977Phe) c.2294C>T (p.Ser765Phe) c.-646C>T (n.-646C>T) | |
5 | g.177211750T>A | CA447961082 | NSD1 | c.2478T>A (p.Ser826=) n.612+7458T>A n.2934T>A c.3042T>A (p.Ser1014=) n.2748T>A c.3351T>A (p.Ser1117=) n.3498T>A c.2544T>A (p.Ser848=) c.2931T>A (p.Ser977=) c.2295T>A (p.Ser765=) c.-645T>A (n.-645T>A) | |
5 | g.177211750T>C | CA447961083 | NSD1 | c.2478T>C (p.Ser826=) n.612+7458T>C n.2934T>C c.3042T>C (p.Ser1014=) n.2748T>C c.3351T>C (p.Ser1117=) n.3498T>C c.2544T>C (p.Ser848=) c.2931T>C (p.Ser977=) c.2295T>C (p.Ser765=) c.-645T>C (n.-645T>C) | |
5 | g.177211750T>G | CA447961084 | NSD1 | c.2478T>G (p.Ser826=) n.612+7458T>G n.2934T>G c.3042T>G (p.Ser1014=) n.2748T>G c.3351T>G (p.Ser1117=) n.3498T>G c.2544T>G (p.Ser848=) c.2931T>G (p.Ser977=) c.2295T>G (p.Ser765=) c.-645T>G (n.-645T>G) | |
5 | g.177211751G>A | CA362323939 | NSD1 | c.2479G>A (p.Asp827Asn) n.612+7459G>A n.2935G>A c.3043G>A (p.Asp1015Asn) n.2749G>A c.3352G>A (p.Asp1118Asn) n.3499G>A c.2545G>A (p.Asp849Asn) c.2932G>A (p.Asp978Asn) c.2296G>A (p.Asp766Asn) c.-644G>A (n.-644G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211751G>C | CA362323945 | NSD1 | c.2479G>C (p.Asp827His) n.612+7459G>C n.2935G>C c.3043G>C (p.Asp1015His) n.2749G>C c.3352G>C (p.Asp1118His) n.3499G>C c.2545G>C (p.Asp849His) c.2932G>C (p.Asp978His) c.2296G>C (p.Asp766His) c.-644G>C (n.-644G>C) | |
5 | g.177211751G= | CA1603478831 | NSD1 | c.2479G= (p.Asp827=) n.612+7459G= n.2935G= c.3043G= (p.Asp1015=) n.2749G= c.3352G= (p.Asp1118=) n.3499G= c.2545G= (p.Asp849=) c.2932G= (p.Asp978=) c.2296G= (p.Asp766=) c.-644G= (n.-644G=) | |
5 | g.177211751G>T | CA362323941 | NSD1 | c.2479G>T (p.Asp827Tyr) n.612+7459G>T n.2935G>T c.3043G>T (p.Asp1015Tyr) n.2749G>T c.3352G>T (p.Asp1118Tyr) n.3499G>T c.2545G>T (p.Asp849Tyr) c.2932G>T (p.Asp978Tyr) c.2296G>T (p.Asp766Tyr) c.-644G>T (n.-644G>T) | gnomAD v4 |
5 | g.177211752A>C | CA362323949 | NSD1 | c.2480A>C (p.Asp827Ala) n.612+7460A>C n.2936A>C c.3044A>C (p.Asp1015Ala) n.2750A>C c.3353A>C (p.Asp1118Ala) n.3500A>C c.2546A>C (p.Asp849Ala) c.2933A>C (p.Asp978Ala) c.2297A>C (p.Asp766Ala) c.-643A>C (n.-643A>C) | |
5 | g.177211752A>G | CA362323952 | NSD1 | c.2480A>G (p.Asp827Gly) n.612+7460A>G n.2936A>G c.3044A>G (p.Asp1015Gly) n.2750A>G c.3353A>G (p.Asp1118Gly) n.3500A>G c.2546A>G (p.Asp849Gly) c.2933A>G (p.Asp978Gly) c.2297A>G (p.Asp766Gly) c.-643A>G (n.-643A>G) | |
5 | g.177211752A>T | CA362323956 | NSD1 | c.2480A>T (p.Asp827Val) n.612+7460A>T n.2936A>T c.3044A>T (p.Asp1015Val) n.2750A>T c.3353A>T (p.Asp1118Val) n.3500A>T c.2546A>T (p.Asp849Val) c.2933A>T (p.Asp978Val) c.2297A>T (p.Asp766Val) c.-643A>T (n.-643A>T) | |
5 | g.177211753T>A | CA362323959 | NSD1 | c.2481T>A (p.Asp827Glu) n.612+7461T>A n.2937T>A c.3045T>A (p.Asp1015Glu) n.2751T>A c.3354T>A (p.Asp1118Glu) n.3501T>A c.2547T>A (p.Asp849Glu) c.2934T>A (p.Asp978Glu) c.2298T>A (p.Asp766Glu) c.-642T>A (n.-642T>A) | |
5 | g.177211753T>C | CA447961085 | NSD1 | c.2481T>C (p.Asp827=) n.612+7461T>C n.2937T>C c.3045T>C (p.Asp1015=) n.2751T>C c.3354T>C (p.Asp1118=) n.3501T>C c.2547T>C (p.Asp849=) c.2934T>C (p.Asp978=) c.2298T>C (p.Asp766=) c.-642T>C (n.-642T>C) | |
5 | g.177211753T>G | CA362323962 | NSD1 | c.2481T>G (p.Asp827Glu) n.612+7461T>G n.2937T>G c.3045T>G (p.Asp1015Glu) n.2751T>G c.3354T>G (p.Asp1118Glu) n.3501T>G c.2547T>G (p.Asp849Glu) c.2934T>G (p.Asp978Glu) c.2298T>G (p.Asp766Glu) c.-642T>G (n.-642T>G) | |
5 | g.177211754C>A | CA3577421 | NSD1 | c.2482C>A (p.Pro828Thr) n.612+7462C>A n.2938C>A c.3046C>A (p.Pro1016Thr) n.2752C>A c.3355C>A (p.Pro1119Thr) n.3502C>A c.2548C>A (p.Pro850Thr) c.2935C>A (p.Pro979Thr) c.2299C>A (p.Pro767Thr) c.-641C>A (n.-641C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211754C= | CA1603478835 | NSD1 | c.2482C= (p.Pro828=) n.612+7462C= n.2938C= c.3046C= (p.Pro1016=) n.2752C= c.3355C= (p.Pro1119=) n.3502C= c.2548C= (p.Pro850=) c.2935C= (p.Pro979=) c.2299C= (p.Pro767=) c.-641C= (n.-641C=) | |
5 | g.177211754C>G | CA234437 | NSD1 | c.2482C>G (p.Pro828Ala) n.612+7462C>G n.2938C>G c.3046C>G (p.Pro1016Ala) n.2752C>G c.3355C>G (p.Pro1119Ala) n.3502C>G c.2548C>G (p.Pro850Ala) c.2935C>G (p.Pro979Ala) c.2299C>G (p.Pro767Ala) c.-641C>G (n.-641C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211754C>T | CA362323973 | NSD1 | c.2482C>T (p.Pro828Ser) n.612+7462C>T n.2938C>T c.3046C>T (p.Pro1016Ser) n.2752C>T c.3355C>T (p.Pro1119Ser) n.3502C>T c.2548C>T (p.Pro850Ser) c.2935C>T (p.Pro979Ser) c.2299C>T (p.Pro767Ser) c.-641C>T (n.-641C>T) | |
5 | g.177211755del | CA2695202836 | NSD1 | c.2483del (p.Pro828LeufsTer22) n.612+7463del n.2939del c.3047del (p.Pro1016LeufsTer22) n.2753del c.3356del (p.Pro1119LeufsTer22) n.3503del c.2549del (p.Pro850LeufsTer22) c.2936del (p.Pro979LeufsTer22) c.2300del (p.Pro767LeufsTer22) c.-640del (n.-640del) | |
5 | g.177211755C>A | CA362323977 | NSD1 | c.2483C>A (p.Pro828His) n.612+7463C>A n.2939C>A c.3047C>A (p.Pro1016His) n.2753C>A c.3356C>A (p.Pro1119His) n.3503C>A c.2549C>A (p.Pro850His) c.2936C>A (p.Pro979His) c.2300C>A (p.Pro767His) c.-640C>A (n.-640C>A) | |
5 | g.177211755C>G | CA362323978 | NSD1 | c.2483C>G (p.Pro828Arg) n.612+7463C>G n.2939C>G c.3047C>G (p.Pro1016Arg) n.2753C>G c.3356C>G (p.Pro1119Arg) n.3503C>G c.2549C>G (p.Pro850Arg) c.2936C>G (p.Pro979Arg) c.2300C>G (p.Pro767Arg) c.-640C>G (n.-640C>G) | |
5 | g.177211755C>T | CA362323981 | NSD1 | c.2483C>T (p.Pro828Leu) n.612+7463C>T n.2939C>T c.3047C>T (p.Pro1016Leu) n.2753C>T c.3356C>T (p.Pro1119Leu) n.3503C>T c.2549C>T (p.Pro850Leu) c.2936C>T (p.Pro979Leu) c.2300C>T (p.Pro767Leu) c.-640C>T (n.-640C>T) | dbSNP |
5 | g.177211756T>A | CA447961086 | NSD1 | c.2484T>A (p.Pro828=) n.612+7464T>A n.2940T>A c.3048T>A (p.Pro1016=) n.2754T>A c.3357T>A (p.Pro1119=) n.3504T>A c.2550T>A (p.Pro850=) c.2937T>A (p.Pro979=) c.2301T>A (p.Pro767=) c.-639T>A (n.-639T>A) | |
5 | g.177211756T>C | CA447961087 | NSD1 | c.2484T>C (p.Pro828=) n.612+7464T>C n.2940T>C c.3048T>C (p.Pro1016=) n.2754T>C c.3357T>C (p.Pro1119=) n.3504T>C c.2550T>C (p.Pro850=) c.2937T>C (p.Pro979=) c.2301T>C (p.Pro767=) c.-639T>C (n.-639T>C) | |
5 | g.177211756T>G | CA447961088 | NSD1 | c.2484T>G (p.Pro828=) n.612+7464T>G n.2940T>G c.3048T>G (p.Pro1016=) n.2754T>G c.3357T>G (p.Pro1119=) n.3504T>G c.2550T>G (p.Pro850=) c.2937T>G (p.Pro979=) c.2301T>G (p.Pro767=) c.-639T>G (n.-639T>G) | |
5 | g.177211757G>A | CA362323985 | NSD1 | c.2485G>A (p.Gly829Ser) n.612+7465G>A n.2941G>A c.3049G>A (p.Gly1017Ser) n.2755G>A c.3358G>A (p.Gly1120Ser) n.3505G>A c.2551G>A (p.Gly851Ser) c.2938G>A (p.Gly980Ser) c.2302G>A (p.Gly768Ser) c.-638G>A (n.-638G>A) | |
5 | g.177211757G>C | CA362323988 | NSD1 | c.2485G>C (p.Gly829Arg) n.612+7465G>C n.2941G>C c.3049G>C (p.Gly1017Arg) n.2755G>C c.3358G>C (p.Gly1120Arg) n.3505G>C c.2551G>C (p.Gly851Arg) c.2938G>C (p.Gly980Arg) c.2302G>C (p.Gly768Arg) c.-638G>C (n.-638G>C) | ClinVar dbSNP |
5 | g.177211757G= | CA1603478841 | NSD1 | c.2485G= (p.Gly829=) n.612+7465G= n.2941G= c.3049G= (p.Gly1017=) n.2755G= c.3358G= (p.Gly1120=) n.3505G= c.2551G= (p.Gly851=) c.2938G= (p.Gly980=) c.2302G= (p.Gly768=) c.-638G= (n.-638G=) | |
5 | g.177211757G>T | CA362323986 | NSD1 | c.2485G>T (p.Gly829Cys) n.612+7465G>T n.2941G>T c.3049G>T (p.Gly1017Cys) n.2755G>T c.3358G>T (p.Gly1120Cys) n.3505G>T c.2551G>T (p.Gly851Cys) c.2938G>T (p.Gly980Cys) c.2302G>T (p.Gly768Cys) c.-638G>T (n.-638G>T) | |
5 | g.177211758G>A | CA362323991 | NSD1 | c.2486G>A (p.Gly829Asp) n.612+7466G>A n.2942G>A c.3050G>A (p.Gly1017Asp) n.2756G>A c.3359G>A (p.Gly1120Asp) n.3506G>A c.2552G>A (p.Gly851Asp) c.2939G>A (p.Gly980Asp) c.2303G>A (p.Gly768Asp) c.-637G>A (n.-637G>A) | |
5 | g.177211758G>C | CA362323994 | NSD1 | c.2486G>C (p.Gly829Ala) n.612+7466G>C n.2942G>C c.3050G>C (p.Gly1017Ala) n.2756G>C c.3359G>C (p.Gly1120Ala) n.3506G>C c.2552G>C (p.Gly851Ala) c.2939G>C (p.Gly980Ala) c.2303G>C (p.Gly768Ala) c.-637G>C (n.-637G>C) | dbSNP |
5 | g.177211758G>T | CA362323997 | NSD1 | c.2486G>T (p.Gly829Val) n.612+7466G>T n.2942G>T c.3050G>T (p.Gly1017Val) n.2756G>T c.3359G>T (p.Gly1120Val) n.3506G>T c.2552G>T (p.Gly851Val) c.2939G>T (p.Gly980Val) c.2303G>T (p.Gly768Val) c.-637G>T (n.-637G>T) | COSMIC COSMIC |
5 | g.177211759T>A | CA447961089 | NSD1 | c.2487T>A (p.Gly829=) n.612+7467T>A n.2943T>A c.3051T>A (p.Gly1017=) n.2757T>A c.3360T>A (p.Gly1120=) n.3507T>A c.2553T>A (p.Gly851=) c.2940T>A (p.Gly980=) c.2304T>A (p.Gly768=) c.-636T>A (n.-636T>A) | dbSNP |
5 | g.177211759T>C | CA447961090 | NSD1 | c.2487T>C (p.Gly829=) n.612+7467T>C n.2943T>C c.3051T>C (p.Gly1017=) n.2757T>C c.3360T>C (p.Gly1120=) n.3507T>C c.2553T>C (p.Gly851=) c.2940T>C (p.Gly980=) c.2304T>C (p.Gly768=) c.-636T>C (n.-636T>C) | |
5 | g.177211759T>G | CA447961091 | NSD1 | c.2487T>G (p.Gly829=) n.612+7467T>G n.2943T>G c.3051T>G (p.Gly1017=) n.2757T>G c.3360T>G (p.Gly1120=) n.3507T>G c.2553T>G (p.Gly851=) c.2940T>G (p.Gly980=) c.2304T>G (p.Gly768=) c.-636T>G (n.-636T>G) | |
5 | g.177211760A>C | CA362324000 | NSD1 | c.2488A>C (p.Lys830Gln) n.612+7468A>C n.2944A>C c.3052A>C (p.Lys1018Gln) n.2758A>C c.3361A>C (p.Lys1121Gln) n.3508A>C c.2554A>C (p.Lys852Gln) c.2941A>C (p.Lys981Gln) c.2305A>C (p.Lys769Gln) c.-635A>C (n.-635A>C) | |
5 | g.177211760A>G | CA362324004 | NSD1 | c.2488A>G (p.Lys830Glu) n.612+7468A>G n.2944A>G c.3052A>G (p.Lys1018Glu) n.2758A>G c.3361A>G (p.Lys1121Glu) n.3508A>G c.2554A>G (p.Lys852Glu) c.2941A>G (p.Lys981Glu) c.2305A>G (p.Lys769Glu) c.-635A>G (n.-635A>G) | COSMIC COSMIC |
5 | g.177211760A>T | CA362324007 | NSD1 | c.2488A>T (p.Lys830Ter) n.612+7468A>T n.2944A>T c.3052A>T (p.Lys1018Ter) n.2758A>T c.3361A>T (p.Lys1121Ter) n.3508A>T c.2554A>T (p.Lys852Ter) c.2941A>T (p.Lys981Ter) c.2305A>T (p.Lys769Ter) c.-635A>T (n.-635A>T) | |
5 | g.177211763dup | CA2499217773 | NSD1 | c.2491dup (p.Ile831AsnfsTer3) n.612+7471dup n.2947dup c.3055dup (p.Ile1019AsnfsTer3) n.2761dup c.3364dup (p.Ile1122AsnfsTer3) n.3511dup c.2557dup (p.Ile853AsnfsTer3) c.2944dup (p.Ile982AsnfsTer3) c.2308dup (p.Ile770AsnfsTer3) c.-632dup (n.-632dup) | ClinVar dbSNP |
5 | g.177211761A>C | CA362324013 | NSD1 | c.2489A>C (p.Lys830Thr) n.612+7469A>C n.2945A>C c.3053A>C (p.Lys1018Thr) n.2759A>C c.3362A>C (p.Lys1121Thr) n.3509A>C c.2555A>C (p.Lys852Thr) c.2942A>C (p.Lys981Thr) c.2306A>C (p.Lys769Thr) c.-634A>C (n.-634A>C) | |
5 | g.177211761A>G | CA362324015 | NSD1 | c.2489A>G (p.Lys830Arg) n.612+7469A>G n.2945A>G c.3053A>G (p.Lys1018Arg) n.2759A>G c.3362A>G (p.Lys1121Arg) n.3509A>G c.2555A>G (p.Lys852Arg) c.2942A>G (p.Lys981Arg) c.2306A>G (p.Lys769Arg) c.-634A>G (n.-634A>G) | gnomAD v4 |
5 | g.177211761A>T | CA362324018 | NSD1 | c.2489A>T (p.Lys830Ile) n.612+7469A>T n.2945A>T c.3053A>T (p.Lys1018Ile) n.2759A>T c.3362A>T (p.Lys1121Ile) n.3509A>T c.2555A>T (p.Lys852Ile) c.2942A>T (p.Lys981Ile) c.2306A>T (p.Lys769Ile) c.-634A>T (n.-634A>T) | |
5 | g.177211762A= | CA1603478843 | NSD1 | c.2490A= (p.Lys830=) n.612+7470A= n.2946A= c.3054A= (p.Lys1018=) n.2760A= c.3363A= (p.Lys1121=) n.3510A= c.2556A= (p.Lys852=) c.2943A= (p.Lys981=) c.2307A= (p.Lys769=) c.-633A= (n.-633A=) | |
5 | g.177211762A>C | CA362324026 | NSD1 | c.2490A>C (p.Lys830Asn) n.612+7470A>C n.2946A>C c.3054A>C (p.Lys1018Asn) n.2760A>C c.3363A>C (p.Lys1121Asn) n.3510A>C c.2556A>C (p.Lys852Asn) c.2943A>C (p.Lys981Asn) c.2307A>C (p.Lys769Asn) c.-633A>C (n.-633A>C) | COSMIC COSMIC |
5 | g.177211762A>G | CA3577422 | NSD1 | c.2490A>G (p.Lys830=) n.612+7470A>G n.2946A>G c.3054A>G (p.Lys1018=) n.2760A>G c.3363A>G (p.Lys1121=) n.3510A>G c.2556A>G (p.Lys852=) c.2943A>G (p.Lys981=) c.2307A>G (p.Lys769=) c.-633A>G (n.-633A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211762A>T | CA362324023 | NSD1 | c.2490A>T (p.Lys830Asn) n.612+7470A>T n.2946A>T c.3054A>T (p.Lys1018Asn) n.2760A>T c.3363A>T (p.Lys1121Asn) n.3510A>T c.2556A>T (p.Lys852Asn) c.2943A>T (p.Lys981Asn) c.2307A>T (p.Lys769Asn) c.-633A>T (n.-633A>T) | |
5 | g.177211763A= | CA1603478849 | NSD1 | c.2491A= (p.Ile831=) n.612+7471A= n.2947A= c.3055A= (p.Ile1019=) n.2761A= c.3364A= (p.Ile1122=) n.3511A= c.2557A= (p.Ile853=) c.2944A= (p.Ile982=) c.2308A= (p.Ile770=) c.-632A= (n.-632A=) | |
5 | g.177211763A>C | CA362324034 | NSD1 | c.2491A>C (p.Ile831Leu) n.612+7471A>C n.2947A>C c.3055A>C (p.Ile1019Leu) n.2761A>C c.3364A>C (p.Ile1122Leu) n.3511A>C c.2557A>C (p.Ile853Leu) c.2944A>C (p.Ile982Leu) c.2308A>C (p.Ile770Leu) c.-632A>C (n.-632A>C) | |
5 | g.177211763A>G | CA362324040 | NSD1 | c.2491A>G (p.Ile831Val) n.612+7471A>G n.2947A>G c.3055A>G (p.Ile1019Val) n.2761A>G c.3364A>G (p.Ile1122Val) n.3511A>G c.2557A>G (p.Ile853Val) c.2944A>G (p.Ile982Val) c.2308A>G (p.Ile770Val) c.-632A>G (n.-632A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211763A>T | CA362324044 | NSD1 | c.2491A>T (p.Ile831Phe) n.612+7471A>T n.2947A>T c.3055A>T (p.Ile1019Phe) n.2761A>T c.3364A>T (p.Ile1122Phe) n.3511A>T c.2557A>T (p.Ile853Phe) c.2944A>T (p.Ile982Phe) c.2308A>T (p.Ile770Phe) c.-632A>T (n.-632A>T) | |
5 | g.177211764T>A | CA362324050 | NSD1 | c.2492T>A (p.Ile831Asn) n.612+7472T>A n.2948T>A c.3056T>A (p.Ile1019Asn) n.2762T>A c.3365T>A (p.Ile1122Asn) n.3512T>A c.2558T>A (p.Ile853Asn) c.2945T>A (p.Ile982Asn) c.2309T>A (p.Ile770Asn) c.-631T>A (n.-631T>A) | |
5 | g.177211764T>C | CA362324052 | NSD1 | c.2492T>C (p.Ile831Thr) n.612+7472T>C n.2948T>C c.3056T>C (p.Ile1019Thr) n.2762T>C c.3365T>C (p.Ile1122Thr) n.3512T>C c.2558T>C (p.Ile853Thr) c.2945T>C (p.Ile982Thr) c.2309T>C (p.Ile770Thr) c.-631T>C (n.-631T>C) | |
5 | g.177211764T>G | CA362324056 | NSD1 | c.2492T>G (p.Ile831Ser) n.612+7472T>G n.2948T>G c.3056T>G (p.Ile1019Ser) n.2762T>G c.3365T>G (p.Ile1122Ser) n.3512T>G c.2558T>G (p.Ile853Ser) c.2945T>G (p.Ile982Ser) c.2309T>G (p.Ile770Ser) c.-631T>G (n.-631T>G) | |
5 | g.177211765T>A | CA447961093 | NSD1 | c.2493T>A (p.Ile831=) n.612+7473T>A n.2949T>A c.3057T>A (p.Ile1019=) n.2763T>A c.3366T>A (p.Ile1122=) n.3513T>A c.2559T>A (p.Ile853=) c.2946T>A (p.Ile982=) c.2310T>A (p.Ile770=) c.-630T>A (n.-630T>A) | gnomAD v4 |
5 | g.177211765T>C | CA447961092 | NSD1 | c.2493T>C (p.Ile831=) n.612+7473T>C n.2949T>C c.3057T>C (p.Ile1019=) n.2763T>C c.3366T>C (p.Ile1122=) n.3513T>C c.2559T>C (p.Ile853=) c.2946T>C (p.Ile982=) c.2310T>C (p.Ile770=) c.-630T>C (n.-630T>C) | |
5 | g.177211765T>G | CA362324061 | NSD1 | c.2493T>G (p.Ile831Met) n.612+7473T>G n.2949T>G c.3057T>G (p.Ile1019Met) n.2763T>G c.3366T>G (p.Ile1122Met) n.3513T>G c.2559T>G (p.Ile853Met) c.2946T>G (p.Ile982Met) c.2310T>G (p.Ile770Met) c.-630T>G (n.-630T>G) | COSMIC COSMIC |