Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177211471A>C | CA447960811 | NSD1 | c.2199A>C (p.Ser733=) n.612+7179A>C n.2655A>C c.2763A>C (p.Ser921=) n.2469A>C c.3072A>C (p.Ser1024=) n.3219A>C c.2265A>C (p.Ser755=) c.2652A>C (p.Ser884=) c.2016A>C (p.Ser672=) c.-924A>C (n.-924A>C) | |
5 | g.177211471A>G | CA447960812 | NSD1 | c.2199A>G (p.Ser733=) n.612+7179A>G n.2655A>G c.2763A>G (p.Ser921=) n.2469A>G c.3072A>G (p.Ser1024=) n.3219A>G c.2265A>G (p.Ser755=) c.2652A>G (p.Ser884=) c.2016A>G (p.Ser672=) c.-924A>G (n.-924A>G) | gnomAD v4 |
5 | g.177211471A>T | CA447960813 | NSD1 | c.2199A>T (p.Ser733=) n.612+7179A>T n.2655A>T c.2763A>T (p.Ser921=) n.2469A>T c.3072A>T (p.Ser1024=) n.3219A>T c.2265A>T (p.Ser755=) c.2652A>T (p.Ser884=) c.2016A>T (p.Ser672=) c.-924A>T (n.-924A>T) | |
5 | g.177211472A>C | CA362321866 | NSD1 | c.2200A>C (p.Lys734Gln) n.612+7180A>C n.2656A>C c.2764A>C (p.Lys922Gln) n.2470A>C c.3073A>C (p.Lys1025Gln) n.3220A>C c.2266A>C (p.Lys756Gln) c.2653A>C (p.Lys885Gln) c.2017A>C (p.Lys673Gln) c.-923A>C (n.-923A>C) | |
5 | g.177211472A>G | CA362321867 | NSD1 | c.2200A>G (p.Lys734Glu) n.612+7180A>G n.2656A>G c.2764A>G (p.Lys922Glu) n.2470A>G c.3073A>G (p.Lys1025Glu) n.3220A>G c.2266A>G (p.Lys756Glu) c.2653A>G (p.Lys885Glu) c.2017A>G (p.Lys673Glu) c.-923A>G (n.-923A>G) | |
5 | g.177211472A>T | CA362321864 | NSD1 | c.2200A>T (p.Lys734Ter) n.612+7180A>T n.2656A>T c.2764A>T (p.Lys922Ter) n.2470A>T c.3073A>T (p.Lys1025Ter) n.3220A>T c.2266A>T (p.Lys756Ter) c.2653A>T (p.Lys885Ter) c.2017A>T (p.Lys673Ter) c.-923A>T (n.-923A>T) | |
5 | g.177211473A>C | CA362321870 | NSD1 | c.2201A>C (p.Lys734Thr) n.612+7181A>C n.2657A>C c.2765A>C (p.Lys922Thr) n.2471A>C c.3074A>C (p.Lys1025Thr) n.3221A>C c.2267A>C (p.Lys756Thr) c.2654A>C (p.Lys885Thr) c.2018A>C (p.Lys673Thr) c.-922A>C (n.-922A>C) | |
5 | g.177211473A>G | CA362321872 | NSD1 | c.2201A>G (p.Lys734Arg) n.612+7181A>G n.2657A>G c.2765A>G (p.Lys922Arg) n.2471A>G c.3074A>G (p.Lys1025Arg) n.3221A>G c.2267A>G (p.Lys756Arg) c.2654A>G (p.Lys885Arg) c.2018A>G (p.Lys673Arg) c.-922A>G (n.-922A>G) | |
5 | g.177211473A>T | CA362321875 | NSD1 | c.2201A>T (p.Lys734Met) n.612+7181A>T n.2657A>T c.2765A>T (p.Lys922Met) n.2471A>T c.3074A>T (p.Lys1025Met) n.3221A>T c.2267A>T (p.Lys756Met) c.2654A>T (p.Lys885Met) c.2018A>T (p.Lys673Met) c.-922A>T (n.-922A>T) | |
5 | g.177211474G>A | CA447960818 | NSD1 | c.2202G>A (p.Lys734=) n.612+7182G>A n.2658G>A c.2766G>A (p.Lys922=) n.2472G>A c.3075G>A (p.Lys1025=) n.3222G>A c.2268G>A (p.Lys756=) c.2655G>A (p.Lys885=) c.2019G>A (p.Lys673=) c.-921G>A (n.-921G>A) | dbSNP gnomAD v4 |
5 | g.177211474G>C | CA362321878 | NSD1 | c.2202G>C (p.Lys734Asn) n.612+7182G>C n.2658G>C c.2766G>C (p.Lys922Asn) n.2472G>C c.3075G>C (p.Lys1025Asn) n.3222G>C c.2268G>C (p.Lys756Asn) c.2655G>C (p.Lys885Asn) c.2019G>C (p.Lys673Asn) c.-921G>C (n.-921G>C) | |
5 | g.177211474G= | CA1603477926 | NSD1 | c.2202G= (p.Lys734=) n.612+7182G= n.2658G= c.2766G= (p.Lys922=) n.2472G= c.3075G= (p.Lys1025=) n.3222G= c.2268G= (p.Lys756=) c.2655G= (p.Lys885=) c.2019G= (p.Lys673=) c.-921G= (n.-921G=) | |
5 | g.177211474G>T | CA362321880 | NSD1 | c.2202G>T (p.Lys734Asn) n.612+7182G>T n.2658G>T c.2766G>T (p.Lys922Asn) n.2472G>T c.3075G>T (p.Lys1025Asn) n.3222G>T c.2268G>T (p.Lys756Asn) c.2655G>T (p.Lys885Asn) c.2019G>T (p.Lys673Asn) c.-921G>T (n.-921G>T) | |
5 | g.177211475C>A | CA362321888 | NSD1 | c.2203C>A (p.Pro735Thr) n.612+7183C>A n.2659C>A c.2767C>A (p.Pro923Thr) n.2473C>A c.3076C>A (p.Pro1026Thr) n.3223C>A c.2269C>A (p.Pro757Thr) c.2656C>A (p.Pro886Thr) c.2020C>A (p.Pro674Thr) c.-920C>A (n.-920C>A) | gnomAD v4 |
5 | g.177211475C>G | CA362321886 | NSD1 | c.2203C>G (p.Pro735Ala) n.612+7183C>G n.2659C>G c.2767C>G (p.Pro923Ala) n.2473C>G c.3076C>G (p.Pro1026Ala) n.3223C>G c.2269C>G (p.Pro757Ala) c.2656C>G (p.Pro886Ala) c.2020C>G (p.Pro674Ala) c.-920C>G (n.-920C>G) | gnomAD v4 |
5 | g.177211475C>T | CA362321884 | NSD1 | c.2203C>T (p.Pro735Ser) n.612+7183C>T n.2659C>T c.2767C>T (p.Pro923Ser) n.2473C>T c.3076C>T (p.Pro1026Ser) n.3223C>T c.2269C>T (p.Pro757Ser) c.2656C>T (p.Pro886Ser) c.2020C>T (p.Pro674Ser) c.-920C>T (n.-920C>T) | dbSNP gnomAD v4 |
5 | g.177211476C>A | CA362321891 | NSD1 | c.2204C>A (p.Pro735His) n.612+7184C>A n.2660C>A c.2768C>A (p.Pro923His) n.2474C>A c.3077C>A (p.Pro1026His) n.3224C>A c.2270C>A (p.Pro757His) c.2657C>A (p.Pro886His) c.2021C>A (p.Pro674His) c.-919C>A (n.-919C>A) | |
5 | g.177211476C>G | CA362321893 | NSD1 | c.2204C>G (p.Pro735Arg) n.612+7184C>G n.2660C>G c.2768C>G (p.Pro923Arg) n.2474C>G c.3077C>G (p.Pro1026Arg) n.3224C>G c.2270C>G (p.Pro757Arg) c.2657C>G (p.Pro886Arg) c.2021C>G (p.Pro674Arg) c.-919C>G (n.-919C>G) | |
5 | g.177211476C>T | CA362321894 | NSD1 | c.2204C>T (p.Pro735Leu) n.612+7184C>T n.2660C>T c.2768C>T (p.Pro923Leu) n.2474C>T c.3077C>T (p.Pro1026Leu) n.3224C>T c.2270C>T (p.Pro757Leu) c.2657C>T (p.Pro886Leu) c.2021C>T (p.Pro674Leu) c.-919C>T (n.-919C>T) | |
5 | g.177211477_177211479del | CA2578494650 | NSD1 | c.2205_2207del (p.Ser736del) n.612+7185_612+7187del n.2661_2663del c.2769_2771del (p.Ser924del) n.2475_2477del c.3078_3080del (p.Ser1027del) n.3225_3227del c.2271_2273del (p.Ser758del) c.2658_2660del (p.Ser887del) c.2022_2024del (p.Ser675del) c.-918_-916del (n.-918_-916del) | |
5 | g.177211477T>A | CA447960821 | NSD1 | c.2205T>A (p.Pro735=) n.612+7185T>A n.2661T>A c.2769T>A (p.Pro923=) n.2475T>A c.3078T>A (p.Pro1026=) n.3225T>A c.2271T>A (p.Pro757=) c.2658T>A (p.Pro886=) c.2022T>A (p.Pro674=) c.-918T>A (n.-918T>A) | dbSNP |
5 | g.177211477T>C | CA447960822 | NSD1 | c.2205T>C (p.Pro735=) n.612+7185T>C n.2661T>C c.2769T>C (p.Pro923=) n.2475T>C c.3078T>C (p.Pro1026=) n.3225T>C c.2271T>C (p.Pro757=) c.2658T>C (p.Pro886=) c.2022T>C (p.Pro674=) c.-918T>C (n.-918T>C) | |
5 | g.177211477T>G | CA447960823 | NSD1 | c.2205T>G (p.Pro735=) n.612+7185T>G n.2661T>G c.2769T>G (p.Pro923=) n.2475T>G c.3078T>G (p.Pro1026=) n.3225T>G c.2271T>G (p.Pro757=) c.2658T>G (p.Pro886=) c.2022T>G (p.Pro674=) c.-918T>G (n.-918T>G) | |
5 | g.177211478T>A | CA362321898 | NSD1 | c.2206T>A (p.Ser736Thr) n.612+7186T>A n.2662T>A c.2770T>A (p.Ser924Thr) n.2476T>A c.3079T>A (p.Ser1027Thr) n.3226T>A c.2272T>A (p.Ser758Thr) c.2659T>A (p.Ser887Thr) c.2023T>A (p.Ser675Thr) c.-917T>A (n.-917T>A) | |
5 | g.177211478T>C | CA362321899 | NSD1 | c.2206T>C (p.Ser736Pro) n.612+7186T>C n.2662T>C c.2770T>C (p.Ser924Pro) n.2476T>C c.3079T>C (p.Ser1027Pro) n.3226T>C c.2272T>C (p.Ser758Pro) c.2659T>C (p.Ser887Pro) c.2023T>C (p.Ser675Pro) c.-917T>C (n.-917T>C) | |
5 | g.177211478T>G | CA3577372 | NSD1 | c.2206T>G (p.Ser736Ala) n.612+7186T>G n.2662T>G c.2770T>G (p.Ser924Ala) n.2476T>G c.3079T>G (p.Ser1027Ala) n.3226T>G c.2272T>G (p.Ser758Ala) c.2659T>G (p.Ser887Ala) c.2023T>G (p.Ser675Ala) c.-917T>G (n.-917T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211478T= | CA1603477931 | NSD1 | c.2206T= (p.Ser736=) n.612+7186T= n.2662T= c.2770T= (p.Ser924=) n.2476T= c.3079T= (p.Ser1027=) n.3226T= c.2272T= (p.Ser758=) c.2659T= (p.Ser887=) c.2023T= (p.Ser675=) c.-917T= (n.-917T=) | |
5 | g.177211479C>A | CA362321907 | NSD1 | c.2207C>A (p.Ser736Ter) n.612+7187C>A n.2663C>A c.2771C>A (p.Ser924Ter) n.2477C>A c.3080C>A (p.Ser1027Ter) n.3227C>A c.2273C>A (p.Ser758Ter) c.2660C>A (p.Ser887Ter) c.2024C>A (p.Ser675Ter) c.-916C>A (n.-916C>A) | |
5 | g.177211479C>G | CA362321905 | NSD1 | c.2207C>G (p.Ser736Ter) n.612+7187C>G n.2663C>G c.2771C>G (p.Ser924Ter) n.2477C>G c.3080C>G (p.Ser1027Ter) n.3227C>G c.2273C>G (p.Ser758Ter) c.2660C>G (p.Ser887Ter) c.2024C>G (p.Ser675Ter) c.-916C>G (n.-916C>G) | dbSNP |
5 | g.177211479C>T | CA362321903 | NSD1 | c.2207C>T (p.Ser736Leu) n.612+7187C>T n.2663C>T c.2771C>T (p.Ser924Leu) n.2477C>T c.3080C>T (p.Ser1027Leu) n.3227C>T c.2273C>T (p.Ser758Leu) c.2660C>T (p.Ser887Leu) c.2024C>T (p.Ser675Leu) c.-916C>T (n.-916C>T) | |
5 | g.177211480A= | CA1603477937 | NSD1 | c.2208A= (p.Ser736=) n.612+7188A= n.2664A= c.2772A= (p.Ser924=) n.2478A= c.3081A= (p.Ser1027=) n.3228A= c.2274A= (p.Ser758=) c.2661A= (p.Ser887=) c.2025A= (p.Ser675=) c.-915A= (n.-915A=) | |
5 | g.177211480A>C | CA447960829 | NSD1 | c.2208A>C (p.Ser736=) n.612+7188A>C n.2664A>C c.2772A>C (p.Ser924=) n.2478A>C c.3081A>C (p.Ser1027=) n.3228A>C c.2274A>C (p.Ser758=) c.2661A>C (p.Ser887=) c.2025A>C (p.Ser675=) c.-915A>C (n.-915A>C) | |
5 | g.177211480A>G | CA447960831 | NSD1 | c.2208A>G (p.Ser736=) n.612+7188A>G n.2664A>G c.2772A>G (p.Ser924=) n.2478A>G c.3081A>G (p.Ser1027=) n.3228A>G c.2274A>G (p.Ser758=) c.2661A>G (p.Ser887=) c.2025A>G (p.Ser675=) c.-915A>G (n.-915A>G) | dbSNP gnomAD v4 |
5 | g.177211480A>T | CA447960832 | NSD1 | c.2208A>T (p.Ser736=) n.612+7188A>T n.2664A>T c.2772A>T (p.Ser924=) n.2478A>T c.3081A>T (p.Ser1027=) n.3228A>T c.2274A>T (p.Ser758=) c.2661A>T (p.Ser887=) c.2025A>T (p.Ser675=) c.-915A>T (n.-915A>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211481T>A | CA362321911 | NSD1 | c.2209T>A (p.Ser737Thr) n.612+7189T>A n.2665T>A c.2773T>A (p.Ser925Thr) n.2479T>A c.3082T>A (p.Ser1028Thr) n.3229T>A c.2275T>A (p.Ser759Thr) c.2662T>A (p.Ser888Thr) c.2026T>A (p.Ser676Thr) c.-914T>A (n.-914T>A) | |
5 | g.177211481T>C | CA362321915 | NSD1 | c.2209T>C (p.Ser737Pro) n.612+7189T>C n.2665T>C c.2773T>C (p.Ser925Pro) n.2479T>C c.3082T>C (p.Ser1028Pro) n.3229T>C c.2275T>C (p.Ser759Pro) c.2662T>C (p.Ser888Pro) c.2026T>C (p.Ser676Pro) c.-914T>C (n.-914T>C) | |
5 | g.177211481T>G | CA362321913 | NSD1 | c.2209T>G (p.Ser737Ala) n.612+7189T>G n.2665T>G c.2773T>G (p.Ser925Ala) n.2479T>G c.3082T>G (p.Ser1028Ala) n.3229T>G c.2275T>G (p.Ser759Ala) c.2662T>G (p.Ser888Ala) c.2026T>G (p.Ser676Ala) c.-914T>G (n.-914T>G) | |
5 | g.177211482C>A | CA362321918 | NSD1 | c.2210C>A (p.Ser737Tyr) n.612+7190C>A n.2666C>A c.2774C>A (p.Ser925Tyr) n.2480C>A c.3083C>A (p.Ser1028Tyr) n.3230C>A c.2276C>A (p.Ser759Tyr) c.2663C>A (p.Ser888Tyr) c.2027C>A (p.Ser676Tyr) c.-913C>A (n.-913C>A) | dbSNP |
5 | g.177211482C>G | CA362321922 | NSD1 | c.2210C>G (p.Ser737Cys) n.612+7190C>G n.2666C>G c.2774C>G (p.Ser925Cys) n.2480C>G c.3083C>G (p.Ser1028Cys) n.3230C>G c.2276C>G (p.Ser759Cys) c.2663C>G (p.Ser888Cys) c.2027C>G (p.Ser676Cys) c.-913C>G (n.-913C>G) | dbSNP |
5 | g.177211482C>T | CA362321920 | NSD1 | c.2210C>T (p.Ser737Phe) n.612+7190C>T n.2666C>T c.2774C>T (p.Ser925Phe) n.2480C>T c.3083C>T (p.Ser1028Phe) n.3230C>T c.2276C>T (p.Ser759Phe) c.2663C>T (p.Ser888Phe) c.2027C>T (p.Ser676Phe) c.-913C>T (n.-913C>T) | |
5 | g.177211483C>A | CA447960838 | NSD1 | c.2211C>A (p.Ser737=) n.612+7191C>A n.2667C>A c.2775C>A (p.Ser925=) n.2481C>A c.3084C>A (p.Ser1028=) n.3231C>A c.2277C>A (p.Ser759=) c.2664C>A (p.Ser888=) c.2028C>A (p.Ser676=) c.-912C>A (n.-912C>A) | dbSNP |
5 | g.177211483C>G | CA447960834 | NSD1 | c.2211C>G (p.Ser737=) n.612+7191C>G n.2667C>G c.2775C>G (p.Ser925=) n.2481C>G c.3084C>G (p.Ser1028=) n.3231C>G c.2277C>G (p.Ser759=) c.2664C>G (p.Ser888=) c.2028C>G (p.Ser676=) c.-912C>G (n.-912C>G) | |
5 | g.177211483C>T | CA447960837 | NSD1 | c.2211C>T (p.Ser737=) n.612+7191C>T n.2667C>T c.2775C>T (p.Ser925=) n.2481C>T c.3084C>T (p.Ser1028=) n.3231C>T c.2277C>T (p.Ser759=) c.2664C>T (p.Ser888=) c.2028C>T (p.Ser676=) c.-912C>T (n.-912C>T) | |
5 | g.177211484A>C | CA362321924 | NSD1 | c.2212A>C (p.Lys738Gln) n.612+7192A>C n.2668A>C c.2776A>C (p.Lys926Gln) n.2482A>C c.3085A>C (p.Lys1029Gln) n.3232A>C c.2278A>C (p.Lys760Gln) c.2665A>C (p.Lys889Gln) c.2029A>C (p.Lys677Gln) c.-911A>C (n.-911A>C) | gnomAD v4 |
5 | g.177211484A>G | CA362321926 | NSD1 | c.2212A>G (p.Lys738Glu) n.612+7192A>G n.2668A>G c.2776A>G (p.Lys926Glu) n.2482A>G c.3085A>G (p.Lys1029Glu) n.3232A>G c.2278A>G (p.Lys760Glu) c.2665A>G (p.Lys889Glu) c.2029A>G (p.Lys677Glu) c.-911A>G (n.-911A>G) | |
5 | g.177211484A>T | CA362321928 | NSD1 | c.2212A>T (p.Lys738Ter) n.612+7192A>T n.2668A>T c.2776A>T (p.Lys926Ter) n.2482A>T c.3085A>T (p.Lys1029Ter) n.3232A>T c.2278A>T (p.Lys760Ter) c.2665A>T (p.Lys889Ter) c.2029A>T (p.Lys677Ter) c.-911A>T (n.-911A>T) | |
5 | g.177211485A>C | CA362321930 | NSD1 | c.2213A>C (p.Lys738Thr) n.612+7193A>C n.2669A>C c.2777A>C (p.Lys926Thr) n.2483A>C c.3086A>C (p.Lys1029Thr) n.3233A>C c.2279A>C (p.Lys760Thr) c.2666A>C (p.Lys889Thr) c.2030A>C (p.Lys677Thr) c.-910A>C (n.-910A>C) | |
5 | g.177211485A>G | CA362321931 | NSD1 | c.2213A>G (p.Lys738Arg) n.612+7193A>G n.2669A>G c.2777A>G (p.Lys926Arg) n.2483A>G c.3086A>G (p.Lys1029Arg) n.3233A>G c.2279A>G (p.Lys760Arg) c.2666A>G (p.Lys889Arg) c.2030A>G (p.Lys677Arg) c.-910A>G (n.-910A>G) | |
5 | g.177211485A>T | CA362321933 | NSD1 | c.2213A>T (p.Lys738Ile) n.612+7193A>T n.2669A>T c.2777A>T (p.Lys926Ile) n.2483A>T c.3086A>T (p.Lys1029Ile) n.3233A>T c.2279A>T (p.Lys760Ile) c.2666A>T (p.Lys889Ile) c.2030A>T (p.Lys677Ile) c.-910A>T (n.-910A>T) | |
5 | g.177211486A= | CA1603477941 | NSD1 | c.2214A= (p.Lys738=) n.612+7194A= n.2670A= c.2778A= (p.Lys926=) n.2484A= c.3087A= (p.Lys1029=) n.3234A= c.2280A= (p.Lys760=) c.2667A= (p.Lys889=) c.2031A= (p.Lys677=) c.-909A= (n.-909A=) | |
5 | g.177211486A>C | CA362321936 | NSD1 | c.2214A>C (p.Lys738Asn) n.612+7194A>C n.2670A>C c.2778A>C (p.Lys926Asn) n.2484A>C c.3087A>C (p.Lys1029Asn) n.3234A>C c.2280A>C (p.Lys760Asn) c.2667A>C (p.Lys889Asn) c.2031A>C (p.Lys677Asn) c.-909A>C (n.-909A>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211486A>G | CA447960841 | NSD1 | c.2214A>G (p.Lys738=) n.612+7194A>G n.2670A>G c.2778A>G (p.Lys926=) n.2484A>G c.3087A>G (p.Lys1029=) n.3234A>G c.2280A>G (p.Lys760=) c.2667A>G (p.Lys889=) c.2031A>G (p.Lys677=) c.-909A>G (n.-909A>G) | |
5 | g.177211486A>T | CA362321938 | NSD1 | c.2214A>T (p.Lys738Asn) n.612+7194A>T n.2670A>T c.2778A>T (p.Lys926Asn) n.2484A>T c.3087A>T (p.Lys1029Asn) n.3234A>T c.2280A>T (p.Lys760Asn) c.2667A>T (p.Lys889Asn) c.2031A>T (p.Lys677Asn) c.-909A>T (n.-909A>T) | |
5 | g.177211487T>A | CA362321942 | NSD1 | c.2215T>A (p.Leu739Met) n.612+7195T>A n.2671T>A c.2779T>A (p.Leu927Met) n.2485T>A c.3088T>A (p.Leu1030Met) n.3235T>A c.2281T>A (p.Leu761Met) c.2668T>A (p.Leu890Met) c.2032T>A (p.Leu678Met) c.-908T>A (n.-908T>A) | |
5 | g.177211487T>C | CA223664 | NSD1 | c.2215T>C (p.Leu739=) n.612+7195T>C n.2671T>C c.2779T>C (p.Leu927=) n.2485T>C c.3088T>C (p.Leu1030=) n.3235T>C c.2281T>C (p.Leu761=) c.2668T>C (p.Leu890=) c.2032T>C (p.Leu678=) c.-908T>C (n.-908T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211487T>G | CA362321945 | NSD1 | c.2215T>G (p.Leu739Val) n.612+7195T>G n.2671T>G c.2779T>G (p.Leu927Val) n.2485T>G c.3088T>G (p.Leu1030Val) n.3235T>G c.2281T>G (p.Leu761Val) c.2668T>G (p.Leu890Val) c.2032T>G (p.Leu678Val) c.-908T>G (n.-908T>G) | |
5 | g.177211487T= | CA1603477945 | NSD1 | c.2215T= (p.Leu739=) n.612+7195T= n.2671T= c.2779T= (p.Leu927=) n.2485T= c.3088T= (p.Leu1030=) n.3235T= c.2281T= (p.Leu761=) c.2668T= (p.Leu890=) c.2032T= (p.Leu678=) c.-908T= (n.-908T=) | |
5 | g.177211488T>A | CA362321949 | NSD1 | c.2216T>A (p.Leu739Ter) n.612+7196T>A n.2672T>A c.2780T>A (p.Leu927Ter) n.2486T>A c.3089T>A (p.Leu1030Ter) n.3236T>A c.2282T>A (p.Leu761Ter) c.2669T>A (p.Leu890Ter) c.2033T>A (p.Leu678Ter) c.-907T>A (n.-907T>A) | |
5 | g.177211488T>C | CA172795 | NSD1 | c.2216T>C (p.Leu739Ser) n.612+7196T>C n.2672T>C c.2780T>C (p.Leu927Ser) n.2486T>C c.3089T>C (p.Leu1030Ser) n.3236T>C c.2282T>C (p.Leu761Ser) c.2669T>C (p.Leu890Ser) c.2033T>C (p.Leu678Ser) c.-907T>C (n.-907T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211488T>G | CA362321947 | NSD1 | c.2216T>G (p.Leu739Trp) n.612+7196T>G n.2672T>G c.2780T>G (p.Leu927Trp) n.2486T>G c.3089T>G (p.Leu1030Trp) n.3236T>G c.2282T>G (p.Leu761Trp) c.2669T>G (p.Leu890Trp) c.2033T>G (p.Leu678Trp) c.-907T>G (n.-907T>G) | |
5 | g.177211488T= | CA1603477950 | NSD1 | c.2216T= (p.Leu739=) n.612+7196T= n.2672T= c.2780T= (p.Leu927=) n.2486T= c.3089T= (p.Leu1030=) n.3236T= c.2282T= (p.Leu761=) c.2669T= (p.Leu890=) c.2033T= (p.Leu678=) c.-907T= (n.-907T=) | |
5 | g.177211488_177211489delinsCT | CA2580074127 | NSD1 | c.2216_2217delinsCT (p.Leu739Ser) n.612+7196_612+7197delinsCT n.2672_2673delinsCT c.2780_2781delinsCT (p.Leu927Ser) n.2486_2487delinsCT c.3089_3090delinsCT (p.Leu1030Ser) n.3236_3237delinsCT c.2282_2283delinsCT (p.Leu761Ser) c.2669_2670delinsCT (p.Leu890Ser) c.2033_2034delinsCT (p.Leu678Ser) c.-907_-906delinsCT (n.-907_-906delinsCT) | ClinVar |
5 | g.177211489G>A | CA132830985 | NSD1 | c.2217G>A (p.Leu739=) n.612+7197G>A n.2673G>A c.2781G>A (p.Leu927=) n.2487G>A c.3090G>A (p.Leu1030=) n.3237G>A c.2283G>A (p.Leu761=) c.2670G>A (p.Leu890=) c.2034G>A (p.Leu678=) c.-906G>A (n.-906G>A) | dbSNP |
5 | g.177211489G>C | CA362321955 | NSD1 | c.2217G>C (p.Leu739Phe) n.612+7197G>C n.2673G>C c.2781G>C (p.Leu927Phe) n.2487G>C c.3090G>C (p.Leu1030Phe) n.3237G>C c.2283G>C (p.Leu761Phe) c.2670G>C (p.Leu890Phe) c.2034G>C (p.Leu678Phe) c.-906G>C (n.-906G>C) | dbSNP |
5 | g.177211489G= | CA1603477953 | NSD1 | c.2217G= (p.Leu739=) n.612+7197G= n.2673G= c.2781G= (p.Leu927=) n.2487G= c.3090G= (p.Leu1030=) n.3237G= c.2283G= (p.Leu761=) c.2670G= (p.Leu890=) c.2034G= (p.Leu678=) c.-906G= (n.-906G=) | |
5 | g.177211489G>T | CA3577373 | NSD1 | c.2217G>T (p.Leu739Phe) n.612+7197G>T n.2673G>T c.2781G>T (p.Leu927Phe) n.2487G>T c.3090G>T (p.Leu1030Phe) n.3237G>T c.2283G>T (p.Leu761Phe) c.2670G>T (p.Leu890Phe) c.2034G>T (p.Leu678Phe) c.-906G>T (n.-906G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211490C>A | CA447960849 | NSD1 | c.2218C>A (p.Arg740=) n.612+7198C>A n.2674C>A c.2782C>A (p.Arg928=) n.2488C>A c.3091C>A (p.Arg1031=) n.3238C>A c.2284C>A (p.Arg762=) c.2671C>A (p.Arg891=) c.2035C>A (p.Arg679=) c.-905C>A (n.-905C>A) | |
5 | g.177211490C= | CA1603477969 | NSD1 | c.2218C= (p.Arg740=) n.612+7198C= n.2674C= c.2782C= (p.Arg928=) n.2488C= c.3091C= (p.Arg1031=) n.3238C= c.2284C= (p.Arg762=) c.2671C= (p.Arg891=) c.2035C= (p.Arg679=) c.-905C= (n.-905C=) | |
5 | g.177211490C>G | CA362321958 | NSD1 | c.2218C>G (p.Arg740Gly) n.612+7198C>G n.2674C>G c.2782C>G (p.Arg928Gly) n.2488C>G c.3091C>G (p.Arg1031Gly) n.3238C>G c.2284C>G (p.Arg762Gly) c.2671C>G (p.Arg891Gly) c.2035C>G (p.Arg679Gly) c.-905C>G (n.-905C>G) | dbSNP |
5 | g.177211490C>T | CA294842 | NSD1 | c.2218C>T (p.Arg740Ter) n.612+7198C>T n.2674C>T c.2782C>T (p.Arg928Ter) n.2488C>T c.3091C>T (p.Arg1031Ter) n.3238C>T c.2284C>T (p.Arg762Ter) c.2671C>T (p.Arg891Ter) c.2035C>T (p.Arg679Ter) c.-905C>T (n.-905C>T) | ClinVar dbSNP COSMIC COSMIC |
5 | g.177211491G>A | CA3577374 | NSD1 | c.2219G>A (p.Arg740Gln) n.612+7199G>A n.2675G>A c.2783G>A (p.Arg928Gln) n.2489G>A c.3092G>A (p.Arg1031Gln) n.3239G>A c.2285G>A (p.Arg762Gln) c.2672G>A (p.Arg891Gln) c.2036G>A (p.Arg679Gln) c.-904G>A (n.-904G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.177211491G>C | CA362321964 | NSD1 | c.2219G>C (p.Arg740Pro) n.612+7199G>C n.2675G>C c.2783G>C (p.Arg928Pro) n.2489G>C c.3092G>C (p.Arg1031Pro) n.3239G>C c.2285G>C (p.Arg762Pro) c.2672G>C (p.Arg891Pro) c.2036G>C (p.Arg679Pro) c.-904G>C (n.-904G>C) | gnomAD v4 |
5 | g.177211491G= | CA1603477971 | NSD1 | c.2219G= (p.Arg740=) n.612+7199G= n.2675G= c.2783G= (p.Arg928=) n.2489G= c.3092G= (p.Arg1031=) n.3239G= c.2285G= (p.Arg762=) c.2672G= (p.Arg891=) c.2036G= (p.Arg679=) c.-904G= (n.-904G=) | |
5 | g.177211491G>T | CA362321966 | NSD1 | c.2219G>T (p.Arg740Leu) n.612+7199G>T n.2675G>T c.2783G>T (p.Arg928Leu) n.2489G>T c.3092G>T (p.Arg1031Leu) n.3239G>T c.2285G>T (p.Arg762Leu) c.2672G>T (p.Arg891Leu) c.2036G>T (p.Arg679Leu) c.-904G>T (n.-904G>T) | |
5 | g.177211492A>C | CA447960852 | NSD1 | c.2220A>C (p.Arg740=) n.612+7200A>C n.2676A>C c.2784A>C (p.Arg928=) n.2490A>C c.3093A>C (p.Arg1031=) n.3240A>C c.2286A>C (p.Arg762=) c.2673A>C (p.Arg891=) c.2037A>C (p.Arg679=) c.-903A>C (n.-903A>C) | |
5 | g.177211492A>G | CA447960853 | NSD1 | c.2220A>G (p.Arg740=) n.612+7200A>G n.2676A>G c.2784A>G (p.Arg928=) n.2490A>G c.3093A>G (p.Arg1031=) n.3240A>G c.2286A>G (p.Arg762=) c.2673A>G (p.Arg891=) c.2037A>G (p.Arg679=) c.-903A>G (n.-903A>G) | |
5 | g.177211492A>T | CA447960854 | NSD1 | c.2220A>T (p.Arg740=) n.612+7200A>T n.2676A>T c.2784A>T (p.Arg928=) n.2490A>T c.3093A>T (p.Arg1031=) n.3240A>T c.2286A>T (p.Arg762=) c.2673A>T (p.Arg891=) c.2037A>T (p.Arg679=) c.-903A>T (n.-903A>T) | |
5 | g.177211493G>A | CA362321969 | NSD1 | c.2221G>A (p.Asp741Asn) n.612+7201G>A n.2677G>A c.2785G>A (p.Asp929Asn) n.2491G>A c.3094G>A (p.Asp1032Asn) n.3241G>A c.2287G>A (p.Asp763Asn) c.2674G>A (p.Asp892Asn) c.2038G>A (p.Asp680Asn) c.-902G>A (n.-902G>A) | dbSNP |
5 | g.177211493G>C | CA362321971 | NSD1 | c.2221G>C (p.Asp741His) n.612+7201G>C n.2677G>C c.2785G>C (p.Asp929His) n.2491G>C c.3094G>C (p.Asp1032His) n.3241G>C c.2287G>C (p.Asp763His) c.2674G>C (p.Asp892His) c.2038G>C (p.Asp680His) c.-902G>C (n.-902G>C) | |
5 | g.177211493G= | CA1603477975 | NSD1 | c.2221G= (p.Asp741=) n.612+7201G= n.2677G= c.2785G= (p.Asp929=) n.2491G= c.3094G= (p.Asp1032=) n.3241G= c.2287G= (p.Asp763=) c.2674G= (p.Asp892=) c.2038G= (p.Asp680=) c.-902G= (n.-902G=) | |
5 | g.177211493G>T | CA362321974 | NSD1 | c.2221G>T (p.Asp741Tyr) n.612+7201G>T n.2677G>T c.2785G>T (p.Asp929Tyr) n.2491G>T c.3094G>T (p.Asp1032Tyr) n.3241G>T c.2287G>T (p.Asp763Tyr) c.2674G>T (p.Asp892Tyr) c.2038G>T (p.Asp680Tyr) c.-902G>T (n.-902G>T) | |
5 | g.177211494A>C | CA362321981 | NSD1 | c.2222A>C (p.Asp741Ala) n.612+7202A>C n.2678A>C c.2786A>C (p.Asp929Ala) n.2492A>C c.3095A>C (p.Asp1032Ala) n.3242A>C c.2288A>C (p.Asp763Ala) c.2675A>C (p.Asp892Ala) c.2039A>C (p.Asp680Ala) c.-901A>C (n.-901A>C) | |
5 | g.177211494A>G | CA362321979 | NSD1 | c.2222A>G (p.Asp741Gly) n.612+7202A>G n.2678A>G c.2786A>G (p.Asp929Gly) n.2492A>G c.3095A>G (p.Asp1032Gly) n.3242A>G c.2288A>G (p.Asp763Gly) c.2675A>G (p.Asp892Gly) c.2039A>G (p.Asp680Gly) c.-901A>G (n.-901A>G) | dbSNP gnomAD v4 |
5 | g.177211494A>T | CA362321977 | NSD1 | c.2222A>T (p.Asp741Val) n.612+7202A>T n.2678A>T c.2786A>T (p.Asp929Val) n.2492A>T c.3095A>T (p.Asp1032Val) n.3242A>T c.2288A>T (p.Asp763Val) c.2675A>T (p.Asp892Val) c.2039A>T (p.Asp680Val) c.-901A>T (n.-901A>T) | dbSNP |
5 | g.177211495T>A | CA362321983 | NSD1 | c.2223T>A (p.Asp741Glu) n.612+7203T>A n.2679T>A c.2787T>A (p.Asp929Glu) n.2493T>A c.3096T>A (p.Asp1032Glu) n.3243T>A c.2289T>A (p.Asp763Glu) c.2676T>A (p.Asp892Glu) c.2040T>A (p.Asp680Glu) c.-900T>A (n.-900T>A) | |
5 | g.177211495T>C | CA447960859 | NSD1 | c.2223T>C (p.Asp741=) n.612+7203T>C n.2679T>C c.2787T>C (p.Asp929=) n.2493T>C c.3096T>C (p.Asp1032=) n.3243T>C c.2289T>C (p.Asp763=) c.2676T>C (p.Asp892=) c.2040T>C (p.Asp680=) c.-900T>C (n.-900T>C) | |
5 | g.177211495T>G | CA362321985 | NSD1 | c.2223T>G (p.Asp741Glu) n.612+7203T>G n.2679T>G c.2787T>G (p.Asp929Glu) n.2493T>G c.3096T>G (p.Asp1032Glu) n.3243T>G c.2289T>G (p.Asp763Glu) c.2676T>G (p.Asp892Glu) c.2040T>G (p.Asp680Glu) c.-900T>G (n.-900T>G) | |
5 | g.177211496G>A | CA362321987 | NSD1 | c.2224G>A (p.Ala742Thr) n.612+7204G>A n.2680G>A c.2788G>A (p.Ala930Thr) n.2494G>A c.3097G>A (p.Ala1033Thr) n.3244G>A c.2290G>A (p.Ala764Thr) c.2677G>A (p.Ala893Thr) c.2041G>A (p.Ala681Thr) c.-899G>A (n.-899G>A) | gnomAD v4 COSMIC COSMIC |
5 | g.177211496G>C | CA362321989 | NSD1 | c.2224G>C (p.Ala742Pro) n.612+7204G>C n.2680G>C c.2788G>C (p.Ala930Pro) n.2494G>C c.3097G>C (p.Ala1033Pro) n.3244G>C c.2290G>C (p.Ala764Pro) c.2677G>C (p.Ala893Pro) c.2041G>C (p.Ala681Pro) c.-899G>C (n.-899G>C) | |
5 | g.177211496G>T | CA362321991 | NSD1 | c.2224G>T (p.Ala742Ser) n.612+7204G>T n.2680G>T c.2788G>T (p.Ala930Ser) n.2494G>T c.3097G>T (p.Ala1033Ser) n.3244G>T c.2290G>T (p.Ala764Ser) c.2677G>T (p.Ala893Ser) c.2041G>T (p.Ala681Ser) c.-899G>T (n.-899G>T) | |
5 | g.177211497C>A | CA362321995 | NSD1 | c.2225C>A (p.Ala742Asp) n.612+7205C>A n.2681C>A c.2789C>A (p.Ala930Asp) n.2495C>A c.3098C>A (p.Ala1033Asp) n.3245C>A c.2291C>A (p.Ala764Asp) c.2678C>A (p.Ala893Asp) c.2042C>A (p.Ala681Asp) c.-898C>A (n.-898C>A) | |
5 | g.177211497C= | CA1603477983 | NSD1 | c.2225C= (p.Ala742=) n.612+7205C= n.2681C= c.2789C= (p.Ala930=) n.2495C= c.3098C= (p.Ala1033=) n.3245C= c.2291C= (p.Ala764=) c.2678C= (p.Ala893=) c.2042C= (p.Ala681=) c.-898C= (n.-898C=) | |
5 | g.177211497C>G | CA362321997 | NSD1 | c.2225C>G (p.Ala742Gly) n.612+7205C>G n.2681C>G c.2789C>G (p.Ala930Gly) n.2495C>G c.3098C>G (p.Ala1033Gly) n.3245C>G c.2291C>G (p.Ala764Gly) c.2678C>G (p.Ala893Gly) c.2042C>G (p.Ala681Gly) c.-898C>G (n.-898C>G) | gnomAD v4 |
5 | g.177211497C>T | CA3577375 | NSD1 | c.2225C>T (p.Ala742Val) n.612+7205C>T n.2681C>T c.2789C>T (p.Ala930Val) n.2495C>T c.3098C>T (p.Ala1033Val) n.3245C>T c.2291C>T (p.Ala764Val) c.2678C>T (p.Ala893Val) c.2042C>T (p.Ala681Val) c.-898C>T (n.-898C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211498T>A | CA447960865 | NSD1 | c.2226T>A (p.Ala742=) n.612+7206T>A n.2682T>A c.2790T>A (p.Ala930=) n.2496T>A c.3099T>A (p.Ala1033=) n.3246T>A c.2292T>A (p.Ala764=) c.2679T>A (p.Ala893=) c.2043T>A (p.Ala681=) c.-897T>A (n.-897T>A) | |
5 | g.177211498T>C | CA3577376 | NSD1 | c.2226T>C (p.Ala742=) n.612+7206T>C n.2682T>C c.2790T>C (p.Ala930=) n.2496T>C c.3099T>C (p.Ala1033=) n.3246T>C c.2292T>C (p.Ala764=) c.2679T>C (p.Ala893=) c.2043T>C (p.Ala681=) c.-897T>C (n.-897T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211498T>G | CA447960867 | NSD1 | c.2226T>G (p.Ala742=) n.612+7206T>G n.2682T>G c.2790T>G (p.Ala930=) n.2496T>G c.3099T>G (p.Ala1033=) n.3246T>G c.2292T>G (p.Ala764=) c.2679T>G (p.Ala893=) c.2043T>G (p.Ala681=) c.-897T>G (n.-897T>G) | gnomAD v4 |
5 | g.177211498T= | CA1603477988 | NSD1 | c.2226T= (p.Ala742=) n.612+7206T= n.2682T= c.2790T= (p.Ala930=) n.2496T= c.3099T= (p.Ala1033=) n.3246T= c.2292T= (p.Ala764=) c.2679T= (p.Ala893=) c.2043T= (p.Ala681=) c.-897T= (n.-897T=) | |
5 | g.177211502del | CA2711100344 | NSD1 | c.2230del (p.Ser744GlnfsTer5) n.612+7210del n.2686del c.2794del (p.Ser932GlnfsTer5) n.2500del c.3103del (p.Ser1035GlnfsTer5) n.3250del c.2296del (p.Ser766GlnfsTer5) c.2683del (p.Ser895GlnfsTer5) c.2047del (p.Ser683GlnfsTer5) c.-893del (n.-893del) | dbSNP |
5 | g.177211499T>A | CA362322003 | NSD1 | c.2227T>A (p.Phe743Ile) n.612+7207T>A n.2683T>A c.2791T>A (p.Phe931Ile) n.2497T>A c.3100T>A (p.Phe1034Ile) n.3247T>A c.2293T>A (p.Phe765Ile) c.2680T>A (p.Phe894Ile) c.2044T>A (p.Phe682Ile) c.-896T>A (n.-896T>A) | |
5 | g.177211499T>C | CA362322005 | NSD1 | c.2227T>C (p.Phe743Leu) n.612+7207T>C n.2683T>C c.2791T>C (p.Phe931Leu) n.2497T>C c.3100T>C (p.Phe1034Leu) n.3247T>C c.2293T>C (p.Phe765Leu) c.2680T>C (p.Phe894Leu) c.2044T>C (p.Phe682Leu) c.-896T>C (n.-896T>C) | |
5 | g.177211499T>G | CA362322007 | NSD1 | c.2227T>G (p.Phe743Val) n.612+7207T>G n.2683T>G c.2791T>G (p.Phe931Val) n.2497T>G c.3100T>G (p.Phe1034Val) n.3247T>G c.2293T>G (p.Phe765Val) c.2680T>G (p.Phe894Val) c.2044T>G (p.Phe682Val) c.-896T>G (n.-896T>G) | COSMIC COSMIC |
5 | g.177211500T>A | CA362322014 | NSD1 | c.2228T>A (p.Phe743Tyr) n.612+7208T>A n.2684T>A c.2792T>A (p.Phe931Tyr) n.2498T>A c.3101T>A (p.Phe1034Tyr) n.3248T>A c.2294T>A (p.Phe765Tyr) c.2681T>A (p.Phe894Tyr) c.2045T>A (p.Phe682Tyr) c.-895T>A (n.-895T>A) | |
5 | g.177211500T>C | CA362322010 | NSD1 | c.2228T>C (p.Phe743Ser) n.612+7208T>C n.2684T>C c.2792T>C (p.Phe931Ser) n.2498T>C c.3101T>C (p.Phe1034Ser) n.3248T>C c.2294T>C (p.Phe765Ser) c.2681T>C (p.Phe894Ser) c.2045T>C (p.Phe682Ser) c.-895T>C (n.-895T>C) | |
5 | g.177211500T>G | CA362322012 | NSD1 | c.2228T>G (p.Phe743Cys) n.612+7208T>G n.2684T>G c.2792T>G (p.Phe931Cys) n.2498T>G c.3101T>G (p.Phe1034Cys) n.3248T>G c.2294T>G (p.Phe765Cys) c.2681T>G (p.Phe894Cys) c.2045T>G (p.Phe682Cys) c.-895T>G (n.-895T>G) | |
5 | g.177211501T>A | CA362322016 | NSD1 | c.2229T>A (p.Phe743Leu) n.612+7209T>A n.2685T>A c.2793T>A (p.Phe931Leu) n.2499T>A c.3102T>A (p.Phe1034Leu) n.3249T>A c.2295T>A (p.Phe765Leu) c.2682T>A (p.Phe894Leu) c.2046T>A (p.Phe682Leu) c.-894T>A (n.-894T>A) | |
5 | g.177211501T>C | CA447960870 | NSD1 | c.2229T>C (p.Phe743=) n.612+7209T>C n.2685T>C c.2793T>C (p.Phe931=) n.2499T>C c.3102T>C (p.Phe1034=) n.3249T>C c.2295T>C (p.Phe765=) c.2682T>C (p.Phe894=) c.2046T>C (p.Phe682=) c.-894T>C (n.-894T>C) | |
5 | g.177211501T>G | CA362322018 | NSD1 | c.2229T>G (p.Phe743Leu) n.612+7209T>G n.2685T>G c.2793T>G (p.Phe931Leu) n.2499T>G c.3102T>G (p.Phe1034Leu) n.3249T>G c.2295T>G (p.Phe765Leu) c.2682T>G (p.Phe894Leu) c.2046T>G (p.Phe682Leu) c.-894T>G (n.-894T>G) | |
5 | g.177211502T>A | CA362322021 | NSD1 | c.2230T>A (p.Ser744Thr) n.612+7210T>A n.2686T>A c.2794T>A (p.Ser932Thr) n.2500T>A c.3103T>A (p.Ser1035Thr) n.3250T>A c.2296T>A (p.Ser766Thr) c.2683T>A (p.Ser895Thr) c.2047T>A (p.Ser683Thr) c.-893T>A (n.-893T>A) | |
5 | g.177211502T>C | CA362322022 | NSD1 | c.2230T>C (p.Ser744Pro) n.612+7210T>C n.2686T>C c.2794T>C (p.Ser932Pro) n.2500T>C c.3103T>C (p.Ser1035Pro) n.3250T>C c.2296T>C (p.Ser766Pro) c.2683T>C (p.Ser895Pro) c.2047T>C (p.Ser683Pro) c.-893T>C (n.-893T>C) | |
5 | g.177211502T>G | CA362322025 | NSD1 | c.2230T>G (p.Ser744Ala) n.612+7210T>G n.2686T>G c.2794T>G (p.Ser932Ala) n.2500T>G c.3103T>G (p.Ser1035Ala) n.3250T>G c.2296T>G (p.Ser766Ala) c.2683T>G (p.Ser895Ala) c.2047T>G (p.Ser683Ala) c.-893T>G (n.-893T>G) | |
5 | g.177211503C>A | CA362322028 | NSD1 | c.2231C>A (p.Ser744Ter) n.612+7211C>A n.2687C>A c.2795C>A (p.Ser932Ter) n.2501C>A c.3104C>A (p.Ser1035Ter) n.3251C>A c.2297C>A (p.Ser766Ter) c.2684C>A (p.Ser895Ter) c.2048C>A (p.Ser683Ter) c.-892C>A (n.-892C>A) | dbSNP COSMIC COSMIC |
5 | g.177211503C= | CA1603477990 | NSD1 | c.2231C= (p.Ser744=) n.612+7211C= n.2687C= c.2795C= (p.Ser932=) n.2501C= c.3104C= (p.Ser1035=) n.3251C= c.2297C= (p.Ser766=) c.2684C= (p.Ser895=) c.2048C= (p.Ser683=) c.-892C= (n.-892C=) | |
5 | g.177211503C>G | CA362322030 | NSD1 | c.2231C>G (p.Ser744Ter) n.612+7211C>G n.2687C>G c.2795C>G (p.Ser932Ter) n.2501C>G c.3104C>G (p.Ser1035Ter) n.3251C>G c.2297C>G (p.Ser766Ter) c.2684C>G (p.Ser895Ter) c.2048C>G (p.Ser683Ter) c.-892C>G (n.-892C>G) | |
5 | g.177211503C>T | CA3577377 | NSD1 | c.2231C>T (p.Ser744Leu) n.612+7211C>T n.2687C>T c.2795C>T (p.Ser932Leu) n.2501C>T c.3104C>T (p.Ser1035Leu) n.3251C>T c.2297C>T (p.Ser766Leu) c.2684C>T (p.Ser895Leu) c.2048C>T (p.Ser683Leu) c.-892C>T (n.-892C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211504A>C | CA447960874 | NSD1 | c.2232A>C (p.Ser744=) n.612+7212A>C n.2688A>C c.2796A>C (p.Ser932=) n.2502A>C c.3105A>C (p.Ser1035=) n.3252A>C c.2298A>C (p.Ser766=) c.2685A>C (p.Ser895=) c.2049A>C (p.Ser683=) c.-891A>C (n.-891A>C) | |
5 | g.177211504A>G | CA447960875 | NSD1 | c.2232A>G (p.Ser744=) n.612+7212A>G n.2688A>G c.2796A>G (p.Ser932=) n.2502A>G c.3105A>G (p.Ser1035=) n.3252A>G c.2298A>G (p.Ser766=) c.2685A>G (p.Ser895=) c.2049A>G (p.Ser683=) c.-891A>G (n.-891A>G) | gnomAD v4 |
5 | g.177211504A>T | CA447960877 | NSD1 | c.2232A>T (p.Ser744=) n.612+7212A>T n.2688A>T c.2796A>T (p.Ser932=) n.2502A>T c.3105A>T (p.Ser1035=) n.3252A>T c.2298A>T (p.Ser766=) c.2685A>T (p.Ser895=) c.2049A>T (p.Ser683=) c.-891A>T (n.-891A>T) | |
5 | g.177211505G>A | CA362322035 | NSD1 | c.2233G>A (p.Ala745Thr) n.612+7213G>A n.2689G>A c.2797G>A (p.Ala933Thr) n.2503G>A c.3106G>A (p.Ala1036Thr) n.3253G>A c.2299G>A (p.Ala767Thr) c.2686G>A (p.Ala896Thr) c.2050G>A (p.Ala684Thr) c.-890G>A (n.-890G>A) | |
5 | g.177211505G>C | CA248755 | NSD1 | c.2233G>C (p.Ala745Pro) n.612+7213G>C n.2689G>C c.2797G>C (p.Ala933Pro) n.2503G>C c.3106G>C (p.Ala1036Pro) n.3253G>C c.2299G>C (p.Ala767Pro) c.2686G>C (p.Ala896Pro) c.2050G>C (p.Ala684Pro) c.-890G>C (n.-890G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211505G= | CA1603477997 | NSD1 | c.2233G= (p.Ala745=) n.612+7213G= n.2689G= c.2797G= (p.Ala933=) n.2503G= c.3106G= (p.Ala1036=) n.3253G= c.2299G= (p.Ala767=) c.2686G= (p.Ala896=) c.2050G= (p.Ala684=) c.-890G= (n.-890G=) | |
5 | g.177211505G>T | CA362322038 | NSD1 | c.2233G>T (p.Ala745Ser) n.612+7213G>T n.2689G>T c.2797G>T (p.Ala933Ser) n.2503G>T c.3106G>T (p.Ala1036Ser) n.3253G>T c.2299G>T (p.Ala767Ser) c.2686G>T (p.Ala896Ser) c.2050G>T (p.Ala684Ser) c.-890G>T (n.-890G>T) | gnomAD v4 |
5 | g.177211506C>A | CA362322045 | NSD1 | c.2234C>A (p.Ala745Asp) n.612+7214C>A n.2690C>A c.2798C>A (p.Ala933Asp) n.2504C>A c.3107C>A (p.Ala1036Asp) n.3254C>A c.2300C>A (p.Ala767Asp) c.2687C>A (p.Ala896Asp) c.2051C>A (p.Ala684Asp) c.-889C>A (n.-889C>A) | dbSNP |
5 | g.177211506C= | CA1603477999 | NSD1 | c.2234C= (p.Ala745=) n.612+7214C= n.2690C= c.2798C= (p.Ala933=) n.2504C= c.3107C= (p.Ala1036=) n.3254C= c.2300C= (p.Ala767=) c.2687C= (p.Ala896=) c.2051C= (p.Ala684=) c.-889C= (n.-889C=) | |
5 | g.177211506C>G | CA362322042 | NSD1 | c.2234C>G (p.Ala745Gly) n.612+7214C>G n.2690C>G c.2798C>G (p.Ala933Gly) n.2504C>G c.3107C>G (p.Ala1036Gly) n.3254C>G c.2300C>G (p.Ala767Gly) c.2687C>G (p.Ala896Gly) c.2051C>G (p.Ala684Gly) c.-889C>G (n.-889C>G) | gnomAD v4 |
5 | g.177211506C>T | CA362322041 | NSD1 | c.2234C>T (p.Ala745Val) n.612+7214C>T n.2690C>T c.2798C>T (p.Ala933Val) n.2504C>T c.3107C>T (p.Ala1036Val) n.3254C>T c.2300C>T (p.Ala767Val) c.2687C>T (p.Ala896Val) c.2051C>T (p.Ala684Val) c.-889C>T (n.-889C>T) | dbSNP gnomAD v4 |
5 | g.177211507C>A | CA447960880 | NSD1 | c.2235C>A (p.Ala745=) n.612+7215C>A n.2691C>A c.2799C>A (p.Ala933=) n.2505C>A c.3108C>A (p.Ala1036=) n.3255C>A c.2301C>A (p.Ala767=) c.2688C>A (p.Ala896=) c.2052C>A (p.Ala684=) c.-888C>A (n.-888C>A) | dbSNP |
5 | g.177211507C= | CA1603478002 | NSD1 | c.2235C= (p.Ala745=) n.612+7215C= n.2691C= c.2799C= (p.Ala933=) n.2505C= c.3108C= (p.Ala1036=) n.3255C= c.2301C= (p.Ala767=) c.2688C= (p.Ala896=) c.2052C= (p.Ala684=) c.-888C= (n.-888C=) | |
5 | g.177211507C>G | CA447960882 | NSD1 | c.2235C>G (p.Ala745=) n.612+7215C>G n.2691C>G c.2799C>G (p.Ala933=) n.2505C>G c.3108C>G (p.Ala1036=) n.3255C>G c.2301C>G (p.Ala767=) c.2688C>G (p.Ala896=) c.2052C>G (p.Ala684=) c.-888C>G (n.-888C>G) | gnomAD v4 COSMIC COSMIC |
5 | g.177211507C>T | CA3577378 | NSD1 | c.2235C>T (p.Ala745=) n.612+7215C>T n.2691C>T c.2799C>T (p.Ala933=) n.2505C>T c.3108C>T (p.Ala1036=) n.3255C>T c.2301C>T (p.Ala767=) c.2688C>T (p.Ala896=) c.2052C>T (p.Ala684=) c.-888C>T (n.-888C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211508C>A | CA362322054 | NSD1 | c.2236C>A (p.Gln746Lys) n.612+7216C>A n.2692C>A c.2800C>A (p.Gln934Lys) n.2506C>A c.3109C>A (p.Gln1037Lys) n.3256C>A c.2302C>A (p.Gln768Lys) c.2689C>A (p.Gln897Lys) c.2053C>A (p.Gln685Lys) c.-887C>A (n.-887C>A) | |
5 | g.177211508C>G | CA362322050 | NSD1 | c.2236C>G (p.Gln746Glu) n.612+7216C>G n.2692C>G c.2800C>G (p.Gln934Glu) n.2506C>G c.3109C>G (p.Gln1037Glu) n.3256C>G c.2302C>G (p.Gln768Glu) c.2689C>G (p.Gln897Glu) c.2053C>G (p.Gln685Glu) c.-887C>G (n.-887C>G) | |
5 | g.177211508C>T | CA362322052 | NSD1 | c.2236C>T (p.Gln746Ter) n.612+7216C>T n.2692C>T c.2800C>T (p.Gln934Ter) n.2506C>T c.3109C>T (p.Gln1037Ter) n.3256C>T c.2302C>T (p.Gln768Ter) c.2689C>T (p.Gln897Ter) c.2053C>T (p.Gln685Ter) c.-887C>T (n.-887C>T) | ClinVar dbSNP |
5 | g.177211509A= | CA1603478007 | NSD1 | c.2237A= (p.Gln746=) n.612+7217A= n.2693A= c.2801A= (p.Gln934=) n.2507A= c.3110A= (p.Gln1037=) n.3257A= c.2303A= (p.Gln768=) c.2690A= (p.Gln897=) c.2054A= (p.Gln685=) c.-886A= (n.-886A=) | |
5 | g.177211509A>C | CA362322058 | NSD1 | c.2237A>C (p.Gln746Pro) n.612+7217A>C n.2693A>C c.2801A>C (p.Gln934Pro) n.2507A>C c.3110A>C (p.Gln1037Pro) n.3257A>C c.2303A>C (p.Gln768Pro) c.2690A>C (p.Gln897Pro) c.2054A>C (p.Gln685Pro) c.-886A>C (n.-886A>C) | |
5 | g.177211509A>G | CA246230 | NSD1 | c.2237A>G (p.Gln746Arg) n.612+7217A>G n.2693A>G c.2801A>G (p.Gln934Arg) n.2507A>G c.3110A>G (p.Gln1037Arg) n.3257A>G c.2303A>G (p.Gln768Arg) c.2690A>G (p.Gln897Arg) c.2054A>G (p.Gln685Arg) c.-886A>G (n.-886A>G) | ClinVar dbSNP |
5 | g.177211509A>T | CA362322061 | NSD1 | c.2237A>T (p.Gln746Leu) n.612+7217A>T n.2693A>T c.2801A>T (p.Gln934Leu) n.2507A>T c.3110A>T (p.Gln1037Leu) n.3257A>T c.2303A>T (p.Gln768Leu) c.2690A>T (p.Gln897Leu) c.2054A>T (p.Gln685Leu) c.-886A>T (n.-886A>T) | |
5 | g.177211510A= | CA1603478010 | NSD1 | c.2238A= (p.Gln746=) n.612+7218A= n.2694A= c.2802A= (p.Gln934=) n.2508A= c.3111A= (p.Gln1037=) n.3258A= c.2304A= (p.Gln768=) c.2691A= (p.Gln897=) c.2055A= (p.Gln685=) c.-885A= (n.-885A=) | |
5 | g.177211510A>C | CA362322069 | NSD1 | c.2238A>C (p.Gln746His) n.612+7218A>C n.2694A>C c.2802A>C (p.Gln934His) n.2508A>C c.3111A>C (p.Gln1037His) n.3258A>C c.2304A>C (p.Gln768His) c.2691A>C (p.Gln897His) c.2055A>C (p.Gln685His) c.-885A>C (n.-885A>C) | |
5 | g.177211510A>G | CA3577379 | NSD1 | c.2238A>G (p.Gln746=) n.612+7218A>G n.2694A>G c.2802A>G (p.Gln934=) n.2508A>G c.3111A>G (p.Gln1037=) n.3258A>G c.2304A>G (p.Gln768=) c.2691A>G (p.Gln897=) c.2055A>G (p.Gln685=) c.-885A>G (n.-885A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211510A>T | CA362322065 | NSD1 | c.2238A>T (p.Gln746His) n.612+7218A>T n.2694A>T c.2802A>T (p.Gln934His) n.2508A>T c.3111A>T (p.Gln1037His) n.3258A>T c.2304A>T (p.Gln768His) c.2691A>T (p.Gln897His) c.2055A>T (p.Gln685His) c.-885A>T (n.-885A>T) | gnomAD v4 |
5 | g.177211511A= | CA1603478019 | NSD1 | c.2239A= (p.Met747=) n.612+7219A= n.2695A= c.2803A= (p.Met935=) n.2509A= c.3112A= (p.Met1038=) n.3259A= c.2305A= (p.Met769=) c.2692A= (p.Met898=) c.2056A= (p.Met686=) c.-884A= (n.-884A=) | |
5 | g.177211511A>C | CA362322073 | NSD1 | c.2239A>C (p.Met747Leu) n.612+7219A>C n.2695A>C c.2803A>C (p.Met935Leu) n.2509A>C c.3112A>C (p.Met1038Leu) n.3259A>C c.2305A>C (p.Met769Leu) c.2692A>C (p.Met898Leu) c.2056A>C (p.Met686Leu) c.-884A>C (n.-884A>C) | |
5 | g.177211511A>G | CA362322076 | NSD1 | c.2239A>G (p.Met747Val) n.612+7219A>G n.2695A>G c.2803A>G (p.Met935Val) n.2509A>G c.3112A>G (p.Met1038Val) n.3259A>G c.2305A>G (p.Met769Val) c.2692A>G (p.Met898Val) c.2056A>G (p.Met686Val) c.-884A>G (n.-884A>G) | dbSNP |
5 | g.177211511A>T | CA362322079 | NSD1 | c.2239A>T (p.Met747Leu) n.612+7219A>T n.2695A>T c.2803A>T (p.Met935Leu) n.2509A>T c.3112A>T (p.Met1038Leu) n.3259A>T c.2305A>T (p.Met769Leu) c.2692A>T (p.Met898Leu) c.2056A>T (p.Met686Leu) c.-884A>T (n.-884A>T) | |
5 | g.177211512T>A | CA362322083 | NSD1 | c.2240T>A (p.Met747Lys) n.612+7220T>A n.2696T>A c.2804T>A (p.Met935Lys) n.2510T>A c.3113T>A (p.Met1038Lys) n.3260T>A c.2306T>A (p.Met769Lys) c.2693T>A (p.Met898Lys) c.2057T>A (p.Met686Lys) c.-883T>A (n.-883T>A) | |
5 | g.177211512T>C | CA362322086 | NSD1 | c.2240T>C (p.Met747Thr) n.612+7220T>C n.2696T>C c.2804T>C (p.Met935Thr) n.2510T>C c.3113T>C (p.Met1038Thr) n.3260T>C c.2306T>C (p.Met769Thr) c.2693T>C (p.Met898Thr) c.2057T>C (p.Met686Thr) c.-883T>C (n.-883T>C) | gnomAD v4 |
5 | g.177211512T>G | CA362322088 | NSD1 | c.2240T>G (p.Met747Arg) n.612+7220T>G n.2696T>G c.2804T>G (p.Met935Arg) n.2510T>G c.3113T>G (p.Met1038Arg) n.3260T>G c.2306T>G (p.Met769Arg) c.2693T>G (p.Met898Arg) c.2057T>G (p.Met686Arg) c.-883T>G (n.-883T>G) | |
5 | g.177211513G>A | CA362322091 | NSD1 | c.2241G>A (p.Met747Ile) n.612+7221G>A n.2697G>A c.2805G>A (p.Met935Ile) n.2511G>A c.3114G>A (p.Met1038Ile) n.3261G>A c.2307G>A (p.Met769Ile) c.2694G>A (p.Met898Ile) c.2058G>A (p.Met686Ile) c.-882G>A (n.-882G>A) | |
5 | g.177211513G>C | CA362322097 | NSD1 | c.2241G>C (p.Met747Ile) n.612+7221G>C n.2697G>C c.2805G>C (p.Met935Ile) n.2511G>C c.3114G>C (p.Met1038Ile) n.3261G>C c.2307G>C (p.Met769Ile) c.2694G>C (p.Met898Ile) c.2058G>C (p.Met686Ile) c.-882G>C (n.-882G>C) | |
5 | g.177211513G= | CA1603478026 | NSD1 | c.2241G= (p.Met747=) n.612+7221G= n.2697G= c.2805G= (p.Met935=) n.2511G= c.3114G= (p.Met1038=) n.3261G= c.2307G= (p.Met769=) c.2694G= (p.Met898=) c.2058G= (p.Met686=) c.-882G= (n.-882G=) | |
5 | g.177211513G>T | CA362322094 | NSD1 | c.2241G>T (p.Met747Ile) n.612+7221G>T n.2697G>T c.2805G>T (p.Met935Ile) n.2511G>T c.3114G>T (p.Met1038Ile) n.3261G>T c.2307G>T (p.Met769Ile) c.2694G>T (p.Met898Ile) c.2058G>T (p.Met686Ile) c.-882G>T (n.-882G>T) | ClinVar dbSNP |
5 | g.177211514G>A | CA362322112 | NSD1 | c.2242G>A (p.Val748Ile) n.612+7222G>A n.2698G>A c.2806G>A (p.Val936Ile) n.2512G>A c.3115G>A (p.Val1039Ile) n.3262G>A c.2308G>A (p.Val770Ile) c.2695G>A (p.Val899Ile) c.2059G>A (p.Val687Ile) c.-881G>A (n.-881G>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211514G>C | CA362322115 | NSD1 | c.2242G>C (p.Val748Leu) n.612+7222G>C n.2698G>C c.2806G>C (p.Val936Leu) n.2512G>C c.3115G>C (p.Val1039Leu) n.3262G>C c.2308G>C (p.Val770Leu) c.2695G>C (p.Val899Leu) c.2059G>C (p.Val687Leu) c.-881G>C (n.-881G>C) | |
5 | g.177211514G= | CA1603478032 | NSD1 | c.2242G= (p.Val748=) n.612+7222G= n.2698G= c.2806G= (p.Val936=) n.2512G= c.3115G= (p.Val1039=) n.3262G= c.2308G= (p.Val770=) c.2695G= (p.Val899=) c.2059G= (p.Val687=) c.-881G= (n.-881G=) | |
5 | g.177211514G>T | CA362322117 | NSD1 | c.2242G>T (p.Val748Leu) n.612+7222G>T n.2698G>T c.2806G>T (p.Val936Leu) n.2512G>T c.3115G>T (p.Val1039Leu) n.3262G>T c.2308G>T (p.Val770Leu) c.2695G>T (p.Val899Leu) c.2059G>T (p.Val687Leu) c.-881G>T (n.-881G>T) | |
5 | g.177211515T>A | CA362322122 | NSD1 | c.2243T>A (p.Val748Glu) n.612+7223T>A n.2699T>A c.2807T>A (p.Val936Glu) n.2513T>A c.3116T>A (p.Val1039Glu) n.3263T>A c.2309T>A (p.Val770Glu) c.2696T>A (p.Val899Glu) c.2060T>A (p.Val687Glu) c.-880T>A (n.-880T>A) | dbSNP |
5 | g.177211515T>C | CA362322124 | NSD1 | c.2243T>C (p.Val748Ala) n.612+7223T>C n.2699T>C c.2807T>C (p.Val936Ala) n.2513T>C c.3116T>C (p.Val1039Ala) n.3263T>C c.2309T>C (p.Val770Ala) c.2696T>C (p.Val899Ala) c.2060T>C (p.Val687Ala) c.-880T>C (n.-880T>C) | |
5 | g.177211515T>G | CA362322127 | NSD1 | c.2243T>G (p.Val748Gly) n.612+7223T>G n.2699T>G c.2807T>G (p.Val936Gly) n.2513T>G c.3116T>G (p.Val1039Gly) n.3263T>G c.2309T>G (p.Val770Gly) c.2696T>G (p.Val899Gly) c.2060T>G (p.Val687Gly) c.-880T>G (n.-880T>G) | gnomAD v4 |
5 | g.177211516A= | CA1603478037 | NSD1 | c.2244A= (p.Val748=) n.612+7224A= n.2700A= c.2808A= (p.Val936=) n.2514A= c.3117A= (p.Val1039=) n.3264A= c.2310A= (p.Val770=) c.2697A= (p.Val899=) c.2061A= (p.Val687=) c.-879A= (n.-879A=) | |
5 | g.177211516A>C | CA447960894 | NSD1 | c.2244A>C (p.Val748=) n.612+7224A>C n.2700A>C c.2808A>C (p.Val936=) n.2514A>C c.3117A>C (p.Val1039=) n.3264A>C c.2310A>C (p.Val770=) c.2697A>C (p.Val899=) c.2061A>C (p.Val687=) c.-879A>C (n.-879A>C) | |
5 | g.177211516A>G | CA3577380 | NSD1 | c.2244A>G (p.Val748=) n.612+7224A>G n.2700A>G c.2808A>G (p.Val936=) n.2514A>G c.3117A>G (p.Val1039=) n.3264A>G c.2310A>G (p.Val770=) c.2697A>G (p.Val899=) c.2061A>G (p.Val687=) c.-879A>G (n.-879A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211516A>T | CA447960895 | NSD1 | c.2244A>T (p.Val748=) n.612+7224A>T n.2700A>T c.2808A>T (p.Val936=) n.2514A>T c.3117A>T (p.Val1039=) n.3264A>T c.2310A>T (p.Val770=) c.2697A>T (p.Val899=) c.2061A>T (p.Val687=) c.-879A>T (n.-879A>T) | |
5 | g.177211518del | CA2711100522 | NSD1 | c.2246del (p.Lys749ArgfsTer4) n.612+7226del n.2702del c.2810del (p.Lys937ArgfsTer4) n.2516del c.3119del (p.Lys1040ArgfsTer4) n.3266del c.2312del (p.Lys771ArgfsTer4) c.2699del (p.Lys900ArgfsTer4) c.2063del (p.Lys688ArgfsTer4) c.-877del (n.-877del) | dbSNP |
5 | g.177211517A>C | CA362322133 | NSD1 | c.2245A>C (p.Lys749Gln) n.612+7225A>C n.2701A>C c.2809A>C (p.Lys937Gln) n.2515A>C c.3118A>C (p.Lys1040Gln) n.3265A>C c.2311A>C (p.Lys771Gln) c.2698A>C (p.Lys900Gln) c.2062A>C (p.Lys688Gln) c.-878A>C (n.-878A>C) | |
5 | g.177211517A>G | CA362322135 | NSD1 | c.2245A>G (p.Lys749Glu) n.612+7225A>G n.2701A>G c.2809A>G (p.Lys937Glu) n.2515A>G c.3118A>G (p.Lys1040Glu) n.3265A>G c.2311A>G (p.Lys771Glu) c.2698A>G (p.Lys900Glu) c.2062A>G (p.Lys688Glu) c.-878A>G (n.-878A>G) | |
5 | g.177211517A>T | CA362322138 | NSD1 | c.2245A>T (p.Lys749Ter) n.612+7225A>T n.2701A>T c.2809A>T (p.Lys937Ter) n.2515A>T c.3118A>T (p.Lys1040Ter) n.3265A>T c.2311A>T (p.Lys771Ter) c.2698A>T (p.Lys900Ter) c.2062A>T (p.Lys688Ter) c.-878A>T (n.-878A>T) | |
5 | g.177211518A= | CA1603478039 | NSD1 | c.2246A= (p.Lys749=) n.612+7226A= n.2702A= c.2810A= (p.Lys937=) n.2516A= c.3119A= (p.Lys1040=) n.3266A= c.2312A= (p.Lys771=) c.2699A= (p.Lys900=) c.2063A= (p.Lys688=) c.-877A= (n.-877A=) | |
5 | g.177211518A>C | CA362322146 | NSD1 | c.2246A>C (p.Lys749Thr) n.612+7226A>C n.2702A>C c.2810A>C (p.Lys937Thr) n.2516A>C c.3119A>C (p.Lys1040Thr) n.3266A>C c.2312A>C (p.Lys771Thr) c.2699A>C (p.Lys900Thr) c.2063A>C (p.Lys688Thr) c.-877A>C (n.-877A>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211518A>G | CA362322145 | NSD1 | c.2246A>G (p.Lys749Arg) n.612+7226A>G n.2702A>G c.2810A>G (p.Lys937Arg) n.2516A>G c.3119A>G (p.Lys1040Arg) n.3266A>G c.2312A>G (p.Lys771Arg) c.2699A>G (p.Lys900Arg) c.2063A>G (p.Lys688Arg) c.-877A>G (n.-877A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211518A>T | CA362322142 | NSD1 | c.2246A>T (p.Lys749Met) n.612+7226A>T n.2702A>T c.2810A>T (p.Lys937Met) n.2516A>T c.3119A>T (p.Lys1040Met) n.3266A>T c.2312A>T (p.Lys771Met) c.2699A>T (p.Lys900Met) c.2063A>T (p.Lys688Met) c.-877A>T (n.-877A>T) | |
5 | g.177211519G>A | CA447960897 | NSD1 | c.2247G>A (p.Lys749=) n.612+7227G>A n.2703G>A c.2811G>A (p.Lys937=) n.2517G>A c.3120G>A (p.Lys1040=) n.3267G>A c.2313G>A (p.Lys771=) c.2700G>A (p.Lys900=) c.2064G>A (p.Lys688=) c.-876G>A (n.-876G>A) | |
5 | g.177211519G>C | CA362322149 | NSD1 | c.2247G>C (p.Lys749Asn) n.612+7227G>C n.2703G>C c.2811G>C (p.Lys937Asn) n.2517G>C c.3120G>C (p.Lys1040Asn) n.3267G>C c.2313G>C (p.Lys771Asn) c.2700G>C (p.Lys900Asn) c.2064G>C (p.Lys688Asn) c.-876G>C (n.-876G>C) | |
5 | g.177211519G= | CA1603478044 | NSD1 | c.2247G= (p.Lys749=) n.612+7227G= n.2703G= c.2811G= (p.Lys937=) n.2517G= c.3120G= (p.Lys1040=) n.3267G= c.2313G= (p.Lys771=) c.2700G= (p.Lys900=) c.2064G= (p.Lys688=) c.-876G= (n.-876G=) | |
5 | g.177211519G>T | CA362322151 | NSD1 | c.2247G>T (p.Lys749Asn) n.612+7227G>T n.2703G>T c.2811G>T (p.Lys937Asn) n.2517G>T c.3120G>T (p.Lys1040Asn) n.3267G>T c.2313G>T (p.Lys771Asn) c.2700G>T (p.Lys900Asn) c.2064G>T (p.Lys688Asn) c.-876G>T (n.-876G>T) | dbSNP gnomAD v4 |
5 | g.177211520A= | CA1603478067 | NSD1 | c.2248A= (p.Asn750=) n.612+7228A= n.2704A= c.2812A= (p.Asn938=) n.2518A= c.3121A= (p.Asn1041=) n.3268A= c.2314A= (p.Asn772=) c.2701A= (p.Asn901=) c.2065A= (p.Asn689=) c.-875A= (n.-875A=) | |
5 | g.177211520A>C | CA362322154 | NSD1 | c.2248A>C (p.Asn750His) n.612+7228A>C n.2704A>C c.2812A>C (p.Asn938His) n.2518A>C c.3121A>C (p.Asn1041His) n.3268A>C c.2314A>C (p.Asn772His) c.2701A>C (p.Asn901His) c.2065A>C (p.Asn689His) c.-875A>C (n.-875A>C) | |
5 | g.177211520A>G | CA3577381 | NSD1 | c.2248A>G (p.Asn750Asp) n.612+7228A>G n.2704A>G c.2812A>G (p.Asn938Asp) n.2518A>G c.3121A>G (p.Asn1041Asp) n.3268A>G c.2314A>G (p.Asn772Asp) c.2701A>G (p.Asn901Asp) c.2065A>G (p.Asn689Asp) c.-875A>G (n.-875A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211520A>T | CA362322157 | NSD1 | c.2248A>T (p.Asn750Tyr) n.612+7228A>T n.2704A>T c.2812A>T (p.Asn938Tyr) n.2518A>T c.3121A>T (p.Asn1041Tyr) n.3268A>T c.2314A>T (p.Asn772Tyr) c.2701A>T (p.Asn901Tyr) c.2065A>T (p.Asn689Tyr) c.-875A>T (n.-875A>T) | |
5 | g.177211521A>C | CA362322160 | NSD1 | c.2249A>C (p.Asn750Thr) n.612+7229A>C n.2705A>C c.2813A>C (p.Asn938Thr) n.2519A>C c.3122A>C (p.Asn1041Thr) n.3269A>C c.2315A>C (p.Asn772Thr) c.2702A>C (p.Asn901Thr) c.2066A>C (p.Asn689Thr) c.-874A>C (n.-874A>C) | |
5 | g.177211521A>G | CA362322162 | NSD1 | c.2249A>G (p.Asn750Ser) n.612+7229A>G n.2705A>G c.2813A>G (p.Asn938Ser) n.2519A>G c.3122A>G (p.Asn1041Ser) n.3269A>G c.2315A>G (p.Asn772Ser) c.2702A>G (p.Asn901Ser) c.2066A>G (p.Asn689Ser) c.-874A>G (n.-874A>G) | |
5 | g.177211521A>T | CA362322164 | NSD1 | c.2249A>T (p.Asn750Ile) n.612+7229A>T n.2705A>T c.2813A>T (p.Asn938Ile) n.2519A>T c.3122A>T (p.Asn1041Ile) n.3269A>T c.2315A>T (p.Asn772Ile) c.2702A>T (p.Asn901Ile) c.2066A>T (p.Asn689Ile) c.-874A>T (n.-874A>T) | |
5 | g.177211522C>A | CA3577382 | NSD1 | c.2250C>A (p.Asn750Lys) n.612+7230C>A n.2706C>A c.2814C>A (p.Asn938Lys) n.2520C>A c.3123C>A (p.Asn1041Lys) n.3270C>A c.2316C>A (p.Asn772Lys) c.2703C>A (p.Asn901Lys) c.2067C>A (p.Asn689Lys) c.-873C>A (n.-873C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211522C= | CA1603478072 | NSD1 | c.2250C= (p.Asn750=) n.612+7230C= n.2706C= c.2814C= (p.Asn938=) n.2520C= c.3123C= (p.Asn1041=) n.3270C= c.2316C= (p.Asn772=) c.2703C= (p.Asn901=) c.2067C= (p.Asn689=) c.-873C= (n.-873C=) | |
5 | g.177211522C>G | CA362322167 | NSD1 | c.2250C>G (p.Asn750Lys) n.612+7230C>G n.2706C>G c.2814C>G (p.Asn938Lys) n.2520C>G c.3123C>G (p.Asn1041Lys) n.3270C>G c.2316C>G (p.Asn772Lys) c.2703C>G (p.Asn901Lys) c.2067C>G (p.Asn689Lys) c.-873C>G (n.-873C>G) | |
5 | g.177211522C>T | CA447960901 | NSD1 | c.2250C>T (p.Asn750=) n.612+7230C>T n.2706C>T c.2814C>T (p.Asn938=) n.2520C>T c.3123C>T (p.Asn1041=) n.3270C>T c.2316C>T (p.Asn772=) c.2703C>T (p.Asn901=) c.2067C>T (p.Asn689=) c.-873C>T (n.-873C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211523A= | CA1603478076 | NSD1 | c.2251A= (p.Thr751=) n.612+7231A= n.2707A= c.2815A= (p.Thr939=) n.2521A= c.3124A= (p.Thr1042=) n.3271A= c.2317A= (p.Thr773=) c.2704A= (p.Thr902=) c.2068A= (p.Thr690=) c.-872A= (n.-872A=) | |
5 | g.177211523A>C | CA362322170 | NSD1 | c.2251A>C (p.Thr751Pro) n.612+7231A>C n.2707A>C c.2815A>C (p.Thr939Pro) n.2521A>C c.3124A>C (p.Thr1042Pro) n.3271A>C c.2317A>C (p.Thr773Pro) c.2704A>C (p.Thr902Pro) c.2068A>C (p.Thr690Pro) c.-872A>C (n.-872A>C) | |
5 | g.177211523A>G | CA362322171 | NSD1 | c.2251A>G (p.Thr751Ala) n.612+7231A>G n.2707A>G c.2815A>G (p.Thr939Ala) n.2521A>G c.3124A>G (p.Thr1042Ala) n.3271A>G c.2317A>G (p.Thr773Ala) c.2704A>G (p.Thr902Ala) c.2068A>G (p.Thr690Ala) c.-872A>G (n.-872A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211523A>T | CA362322174 | NSD1 | c.2251A>T (p.Thr751Ser) n.612+7231A>T n.2707A>T c.2815A>T (p.Thr939Ser) n.2521A>T c.3124A>T (p.Thr1042Ser) n.3271A>T c.2317A>T (p.Thr773Ser) c.2704A>T (p.Thr902Ser) c.2068A>T (p.Thr690Ser) c.-872A>T (n.-872A>T) | |
5 | g.177211524C>A | CA362322180 | NSD1 | c.2252C>A (p.Thr751Lys) n.612+7232C>A n.2708C>A c.2816C>A (p.Thr939Lys) n.2522C>A c.3125C>A (p.Thr1042Lys) n.3272C>A c.2318C>A (p.Thr773Lys) c.2705C>A (p.Thr902Lys) c.2069C>A (p.Thr690Lys) c.-871C>A (n.-871C>A) | |
5 | g.177211524C= | CA1603478083 | NSD1 | c.2252C= (p.Thr751=) n.612+7232C= n.2708C= c.2816C= (p.Thr939=) n.2522C= c.3125C= (p.Thr1042=) n.3272C= c.2318C= (p.Thr773=) c.2705C= (p.Thr902=) c.2069C= (p.Thr690=) c.-871C= (n.-871C=) | |
5 | g.177211524C>G | CA3577383 | NSD1 | c.2252C>G (p.Thr751Arg) n.612+7232C>G n.2708C>G c.2816C>G (p.Thr939Arg) n.2522C>G c.3125C>G (p.Thr1042Arg) n.3272C>G c.2318C>G (p.Thr773Arg) c.2705C>G (p.Thr902Arg) c.2069C>G (p.Thr690Arg) c.-871C>G (n.-871C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211524C>T | CA362322178 | NSD1 | c.2252C>T (p.Thr751Ile) n.612+7232C>T n.2708C>T c.2816C>T (p.Thr939Ile) n.2522C>T c.3125C>T (p.Thr1042Ile) n.3272C>T c.2318C>T (p.Thr773Ile) c.2705C>T (p.Thr902Ile) c.2069C>T (p.Thr690Ile) c.-871C>T (n.-871C>T) | dbSNP gnomAD v4 |
5 | g.177211524dup | CA2695202825 | NSD1 | c.2252dup (p.Val752SerfsTer4) n.612+7232dup n.2708dup c.2816dup (p.Val940SerfsTer4) n.2522dup c.3125dup (p.Val1043SerfsTer4) n.3272dup c.2318dup (p.Val774SerfsTer4) c.2705dup (p.Val903SerfsTer4) c.2069dup (p.Val691SerfsTer4) c.-871dup (n.-871dup) | |
5 | g.177211525A= | CA1603478085 | NSD1 | c.2253A= (p.Thr751=) n.612+7233A= n.2709A= c.2817A= (p.Thr939=) n.2523A= c.3126A= (p.Thr1042=) n.3273A= c.2319A= (p.Thr773=) c.2706A= (p.Thr902=) c.2070A= (p.Thr690=) c.-870A= (n.-870A=) | |
5 | g.177211525A>C | CA447960905 | NSD1 | c.2253A>C (p.Thr751=) n.612+7233A>C n.2709A>C c.2817A>C (p.Thr939=) n.2523A>C c.3126A>C (p.Thr1042=) n.3273A>C c.2319A>C (p.Thr773=) c.2706A>C (p.Thr902=) c.2070A>C (p.Thr690=) c.-870A>C (n.-870A>C) | |
5 | g.177211525A>G | CA447960906 | NSD1 | c.2253A>G (p.Thr751=) n.612+7233A>G n.2709A>G c.2817A>G (p.Thr939=) n.2523A>G c.3126A>G (p.Thr1042=) n.3273A>G c.2319A>G (p.Thr773=) c.2706A>G (p.Thr902=) c.2070A>G (p.Thr690=) c.-870A>G (n.-870A>G) | dbSNP |
5 | g.177211525A>T | CA447960907 | NSD1 | c.2253A>T (p.Thr751=) n.612+7233A>T n.2709A>T c.2817A>T (p.Thr939=) n.2523A>T c.3126A>T (p.Thr1042=) n.3273A>T c.2319A>T (p.Thr773=) c.2706A>T (p.Thr902=) c.2070A>T (p.Thr690=) c.-870A>T (n.-870A>T) | |
5 | g.177211526G>A | CA362322182 | NSD1 | c.2254G>A (p.Val752Met) n.612+7234G>A n.2710G>A c.2818G>A (p.Val940Met) n.2524G>A c.3127G>A (p.Val1043Met) n.3274G>A c.2320G>A (p.Val774Met) c.2707G>A (p.Val903Met) c.2071G>A (p.Val691Met) c.-869G>A (n.-869G>A) | dbSNP |
5 | g.177211526G>C | CA362322184 | NSD1 | c.2254G>C (p.Val752Leu) n.612+7234G>C n.2710G>C c.2818G>C (p.Val940Leu) n.2524G>C c.3127G>C (p.Val1043Leu) n.3274G>C c.2320G>C (p.Val774Leu) c.2707G>C (p.Val903Leu) c.2071G>C (p.Val691Leu) c.-869G>C (n.-869G>C) | dbSNP |
5 | g.177211526G= | CA1603478087 | NSD1 | c.2254G= (p.Val752=) n.612+7234G= n.2710G= c.2818G= (p.Val940=) n.2524G= c.3127G= (p.Val1043=) n.3274G= c.2320G= (p.Val774=) c.2707G= (p.Val903=) c.2071G= (p.Val691=) c.-869G= (n.-869G=) | |
5 | g.177211526G>T | CA362322186 | NSD1 | c.2254G>T (p.Val752Leu) n.612+7234G>T n.2710G>T c.2818G>T (p.Val940Leu) n.2524G>T c.3127G>T (p.Val1043Leu) n.3274G>T c.2320G>T (p.Val774Leu) c.2707G>T (p.Val903Leu) c.2071G>T (p.Val691Leu) c.-869G>T (n.-869G>T) | |
5 | g.177211527T>A | CA362322189 | NSD1 | c.2255T>A (p.Val752Glu) n.612+7235T>A n.2711T>A c.2819T>A (p.Val940Glu) n.2525T>A c.3128T>A (p.Val1043Glu) n.3275T>A c.2321T>A (p.Val774Glu) c.2708T>A (p.Val903Glu) c.2072T>A (p.Val691Glu) c.-868T>A (n.-868T>A) | dbSNP |
5 | g.177211527T>C | CA362322190 | NSD1 | c.2255T>C (p.Val752Ala) n.612+7235T>C n.2711T>C c.2819T>C (p.Val940Ala) n.2525T>C c.3128T>C (p.Val1043Ala) n.3275T>C c.2321T>C (p.Val774Ala) c.2708T>C (p.Val903Ala) c.2072T>C (p.Val691Ala) c.-868T>C (n.-868T>C) | gnomAD v4 |
5 | g.177211527T>G | CA362322193 | NSD1 | c.2255T>G (p.Val752Gly) n.612+7235T>G n.2711T>G c.2819T>G (p.Val940Gly) n.2525T>G c.3128T>G (p.Val1043Gly) n.3275T>G c.2321T>G (p.Val774Gly) c.2708T>G (p.Val903Gly) c.2072T>G (p.Val691Gly) c.-868T>G (n.-868T>G) | gnomAD v4 |
5 | g.177211528G>A | CA447960912 | NSD1 | c.2256G>A (p.Val752=) n.612+7236G>A n.2712G>A c.2820G>A (p.Val940=) n.2526G>A c.3129G>A (p.Val1043=) n.3276G>A c.2322G>A (p.Val774=) c.2709G>A (p.Val903=) c.2073G>A (p.Val691=) c.-867G>A (n.-867G>A) | dbSNP |
5 | g.177211528G>C | CA447960913 | NSD1 | c.2256G>C (p.Val752=) n.612+7236G>C n.2712G>C c.2820G>C (p.Val940=) n.2526G>C c.3129G>C (p.Val1043=) n.3276G>C c.2322G>C (p.Val774=) c.2709G>C (p.Val903=) c.2073G>C (p.Val691=) c.-867G>C (n.-867G>C) | |
5 | g.177211528G>T | CA447960914 | NSD1 | c.2256G>T (p.Val752=) n.612+7236G>T n.2712G>T c.2820G>T (p.Val940=) n.2526G>T c.3129G>T (p.Val1043=) n.3276G>T c.2322G>T (p.Val774=) c.2709G>T (p.Val903=) c.2073G>T (p.Val691=) c.-867G>T (n.-867G>T) | |
5 | g.177211529A>C | CA362322196 | NSD1 | c.2257A>C (p.Asn753His) n.612+7237A>C n.2713A>C c.2821A>C (p.Asn941His) n.2527A>C c.3130A>C (p.Asn1044His) n.3277A>C c.2323A>C (p.Asn775His) c.2710A>C (p.Asn904His) c.2074A>C (p.Asn692His) c.-866A>C (n.-866A>C) | |
5 | g.177211529A>G | CA362322197 | NSD1 | c.2257A>G (p.Asn753Asp) n.612+7237A>G n.2713A>G c.2821A>G (p.Asn941Asp) n.2527A>G c.3130A>G (p.Asn1044Asp) n.3277A>G c.2323A>G (p.Asn775Asp) c.2710A>G (p.Asn904Asp) c.2074A>G (p.Asn692Asp) c.-866A>G (n.-866A>G) | |
5 | g.177211529A>T | CA362322199 | NSD1 | c.2257A>T (p.Asn753Tyr) n.612+7237A>T n.2713A>T c.2821A>T (p.Asn941Tyr) n.2527A>T c.3130A>T (p.Asn1044Tyr) n.3277A>T c.2323A>T (p.Asn775Tyr) c.2710A>T (p.Asn904Tyr) c.2074A>T (p.Asn692Tyr) c.-866A>T (n.-866A>T) | |
5 | g.177211530A>C | CA362322203 | NSD1 | c.2258A>C (p.Asn753Thr) n.612+7238A>C n.2714A>C c.2822A>C (p.Asn941Thr) n.2528A>C c.3131A>C (p.Asn1044Thr) n.3278A>C c.2324A>C (p.Asn775Thr) c.2711A>C (p.Asn904Thr) c.2075A>C (p.Asn692Thr) c.-865A>C (n.-865A>C) | |
5 | g.177211530A>G | CA362322205 | NSD1 | c.2258A>G (p.Asn753Ser) n.612+7238A>G n.2714A>G c.2822A>G (p.Asn941Ser) n.2528A>G c.3131A>G (p.Asn1044Ser) n.3278A>G c.2324A>G (p.Asn775Ser) c.2711A>G (p.Asn904Ser) c.2075A>G (p.Asn692Ser) c.-865A>G (n.-865A>G) | |
5 | g.177211530A>T | CA362322207 | NSD1 | c.2258A>T (p.Asn753Ile) n.612+7238A>T n.2714A>T c.2822A>T (p.Asn941Ile) n.2528A>T c.3131A>T (p.Asn1044Ile) n.3278A>T c.2324A>T (p.Asn775Ile) c.2711A>T (p.Asn904Ile) c.2075A>T (p.Asn692Ile) c.-865A>T (n.-865A>T) | |
5 | g.177211531C>A | CA362322211 | NSD1 | c.2259C>A (p.Asn753Lys) n.612+7239C>A n.2715C>A c.2823C>A (p.Asn941Lys) n.2529C>A c.3132C>A (p.Asn1044Lys) n.3279C>A c.2325C>A (p.Asn775Lys) c.2712C>A (p.Asn904Lys) c.2076C>A (p.Asn692Lys) c.-864C>A (n.-864C>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.177211531C= | CA1603478093 | NSD1 | c.2259C= (p.Asn753=) n.612+7239C= n.2715C= c.2823C= (p.Asn941=) n.2529C= c.3132C= (p.Asn1044=) n.3279C= c.2325C= (p.Asn775=) c.2712C= (p.Asn904=) c.2076C= (p.Asn692=) c.-864C= (n.-864C=) | |
5 | g.177211531C>G | CA362322209 | NSD1 | c.2259C>G (p.Asn753Lys) n.612+7239C>G n.2715C>G c.2823C>G (p.Asn941Lys) n.2529C>G c.3132C>G (p.Asn1044Lys) n.3279C>G c.2325C>G (p.Asn775Lys) c.2712C>G (p.Asn904Lys) c.2076C>G (p.Asn692Lys) c.-864C>G (n.-864C>G) | |
5 | g.177211531C>T | CA447960916 | NSD1 | c.2259C>T (p.Asn753=) n.612+7239C>T n.2715C>T c.2823C>T (p.Asn941=) n.2529C>T c.3132C>T (p.Asn1044=) n.3279C>T c.2325C>T (p.Asn775=) c.2712C>T (p.Asn904=) c.2076C>T (p.Asn692=) c.-864C>T (n.-864C>T) | |
5 | g.177211532C>A | CA362322214 | NSD1 | c.2260C>A (p.Arg754Ser) n.612+7240C>A n.2716C>A c.2824C>A (p.Arg942Ser) n.2530C>A c.3133C>A (p.Arg1045Ser) n.3280C>A c.2326C>A (p.Arg776Ser) c.2713C>A (p.Arg905Ser) c.2077C>A (p.Arg693Ser) c.-863C>A (n.-863C>A) | gnomAD v4 |
5 | g.177211532C= | CA1603478100 | NSD1 | c.2260C= (p.Arg754=) n.612+7240C= n.2716C= c.2824C= (p.Arg942=) n.2530C= c.3133C= (p.Arg1045=) n.3280C= c.2326C= (p.Arg776=) c.2713C= (p.Arg905=) c.2077C= (p.Arg693=) c.-863C= (n.-863C=) | |
5 | g.177211532C>G | CA362322218 | NSD1 | c.2260C>G (p.Arg754Gly) n.612+7240C>G n.2716C>G c.2824C>G (p.Arg942Gly) n.2530C>G c.3133C>G (p.Arg1045Gly) n.3280C>G c.2326C>G (p.Arg776Gly) c.2713C>G (p.Arg905Gly) c.2077C>G (p.Arg693Gly) c.-863C>G (n.-863C>G) | |
5 | g.177211532C>T | CA3577384 | NSD1 | c.2260C>T (p.Arg754Cys) n.612+7240C>T n.2716C>T c.2824C>T (p.Arg942Cys) n.2530C>T c.3133C>T (p.Arg1045Cys) n.3280C>T c.2326C>T (p.Arg776Cys) c.2713C>T (p.Arg905Cys) c.2077C>T (p.Arg693Cys) c.-863C>T (n.-863C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211533G>A | CA362322220 | NSD1 | c.2261G>A (p.Arg754His) n.612+7241G>A n.2717G>A c.2825G>A (p.Arg942His) n.2531G>A c.3134G>A (p.Arg1045His) n.3281G>A c.2327G>A (p.Arg776His) c.2714G>A (p.Arg905His) c.2078G>A (p.Arg693His) c.-862G>A (n.-862G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211533G>C | CA362322224 | NSD1 | c.2261G>C (p.Arg754Pro) n.612+7241G>C n.2717G>C c.2825G>C (p.Arg942Pro) n.2531G>C c.3134G>C (p.Arg1045Pro) n.3281G>C c.2327G>C (p.Arg776Pro) c.2714G>C (p.Arg905Pro) c.2078G>C (p.Arg693Pro) c.-862G>C (n.-862G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211533G= | CA1603478115 | NSD1 | c.2261G= (p.Arg754=) n.612+7241G= n.2717G= c.2825G= (p.Arg942=) n.2531G= c.3134G= (p.Arg1045=) n.3281G= c.2327G= (p.Arg776=) c.2714G= (p.Arg905=) c.2078G= (p.Arg693=) c.-862G= (n.-862G=) | |
5 | g.177211533G>T | CA362322222 | NSD1 | c.2261G>T (p.Arg754Leu) n.612+7241G>T n.2717G>T c.2825G>T (p.Arg942Leu) n.2531G>T c.3134G>T (p.Arg1045Leu) n.3281G>T c.2327G>T (p.Arg776Leu) c.2714G>T (p.Arg905Leu) c.2078G>T (p.Arg693Leu) c.-862G>T (n.-862G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211534T>A | CA447960918 | NSD1 | c.2262T>A (p.Arg754=) n.612+7242T>A n.2718T>A c.2826T>A (p.Arg942=) n.2532T>A c.3135T>A (p.Arg1045=) n.3282T>A c.2328T>A (p.Arg776=) c.2715T>A (p.Arg905=) c.2079T>A (p.Arg693=) c.-861T>A (n.-861T>A) | dbSNP |
5 | g.177211534T>C | CA447960920 | NSD1 | c.2262T>C (p.Arg754=) n.612+7242T>C n.2718T>C c.2826T>C (p.Arg942=) n.2532T>C c.3135T>C (p.Arg1045=) n.3282T>C c.2328T>C (p.Arg776=) c.2715T>C (p.Arg905=) c.2079T>C (p.Arg693=) c.-861T>C (n.-861T>C) | |
5 | g.177211534T>G | CA447960921 | NSD1 | c.2262T>G (p.Arg754=) n.612+7242T>G n.2718T>G c.2826T>G (p.Arg942=) n.2532T>G c.3135T>G (p.Arg1045=) n.3282T>G c.2328T>G (p.Arg776=) c.2715T>G (p.Arg905=) c.2079T>G (p.Arg693=) c.-861T>G (n.-861T>G) | |
5 | g.177211535A>C | CA362322228 | NSD1 | c.2263A>C (p.Lys755Gln) n.612+7243A>C n.2719A>C c.2827A>C (p.Lys943Gln) n.2533A>C c.3136A>C (p.Lys1046Gln) n.3283A>C c.2329A>C (p.Lys777Gln) c.2716A>C (p.Lys906Gln) c.2080A>C (p.Lys694Gln) c.-860A>C (n.-860A>C) | |
5 | g.177211535A>G | CA362322231 | NSD1 | c.2263A>G (p.Lys755Glu) n.612+7243A>G n.2719A>G c.2827A>G (p.Lys943Glu) n.2533A>G c.3136A>G (p.Lys1046Glu) n.3283A>G c.2329A>G (p.Lys777Glu) c.2716A>G (p.Lys906Glu) c.2080A>G (p.Lys694Glu) c.-860A>G (n.-860A>G) | |
5 | g.177211535A>T | CA362322233 | NSD1 | c.2263A>T (p.Lys755Ter) n.612+7243A>T n.2719A>T c.2827A>T (p.Lys943Ter) n.2533A>T c.3136A>T (p.Lys1046Ter) n.3283A>T c.2329A>T (p.Lys777Ter) c.2716A>T (p.Lys906Ter) c.2080A>T (p.Lys694Ter) c.-860A>T (n.-860A>T) | |
5 | g.177211537del | CA2711100536 | NSD1 | c.2265del (p.Ala756ProfsTer2) n.612+7245del n.2721del c.2829del (p.Ala944ProfsTer2) n.2535del c.3138del (p.Ala1047ProfsTer2) n.3285del c.2331del (p.Ala778ProfsTer2) c.2718del (p.Ala907ProfsTer2) c.2082del (p.Ala695ProfsTer2) c.-858del (n.-858del) | dbSNP |
5 | g.177211536A>C | CA362322236 | NSD1 | c.2264A>C (p.Lys755Thr) n.612+7244A>C n.2720A>C c.2828A>C (p.Lys943Thr) n.2534A>C c.3137A>C (p.Lys1046Thr) n.3284A>C c.2330A>C (p.Lys777Thr) c.2717A>C (p.Lys906Thr) c.2081A>C (p.Lys694Thr) c.-859A>C (n.-859A>C) | |
5 | g.177211536A>G | CA362322238 | NSD1 | c.2264A>G (p.Lys755Arg) n.612+7244A>G n.2720A>G c.2828A>G (p.Lys943Arg) n.2534A>G c.3137A>G (p.Lys1046Arg) n.3284A>G c.2330A>G (p.Lys777Arg) c.2717A>G (p.Lys906Arg) c.2081A>G (p.Lys694Arg) c.-859A>G (n.-859A>G) | dbSNP |
5 | g.177211536A>T | CA362322240 | NSD1 | c.2264A>T (p.Lys755Ile) n.612+7244A>T n.2720A>T c.2828A>T (p.Lys943Ile) n.2534A>T c.3137A>T (p.Lys1046Ile) n.3284A>T c.2330A>T (p.Lys777Ile) c.2717A>T (p.Lys906Ile) c.2081A>T (p.Lys694Ile) c.-859A>T (n.-859A>T) | |
5 | g.177211537A= | CA1603478147 | NSD1 | c.2265A= (p.Lys755=) n.612+7245A= n.2721A= c.2829A= (p.Lys943=) n.2535A= c.3138A= (p.Lys1046=) n.3285A= c.2331A= (p.Lys777=) c.2718A= (p.Lys906=) c.2082A= (p.Lys694=) c.-858A= (n.-858A=) | |
5 | g.177211537A>C | CA362322242 | NSD1 | c.2265A>C (p.Lys755Asn) n.612+7245A>C n.2721A>C c.2829A>C (p.Lys943Asn) n.2535A>C c.3138A>C (p.Lys1046Asn) n.3285A>C c.2331A>C (p.Lys777Asn) c.2718A>C (p.Lys906Asn) c.2082A>C (p.Lys694Asn) c.-858A>C (n.-858A>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211537A>G | CA132831057 | NSD1 | c.2265A>G (p.Lys755=) n.612+7245A>G n.2721A>G c.2829A>G (p.Lys943=) n.2535A>G c.3138A>G (p.Lys1046=) n.3285A>G c.2331A>G (p.Lys777=) c.2718A>G (p.Lys906=) c.2082A>G (p.Lys694=) c.-858A>G (n.-858A>G) | dbSNP gnomAD v2 |
5 | g.177211537A>T | CA3577385 | NSD1 | c.2265A>T (p.Lys755Asn) n.612+7245A>T n.2721A>T c.2829A>T (p.Lys943Asn) n.2535A>T c.3138A>T (p.Lys1046Asn) n.3285A>T c.2331A>T (p.Lys777Asn) c.2718A>T (p.Lys906Asn) c.2082A>T (p.Lys694Asn) c.-858A>T (n.-858A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211538G>A | CA362322245 | NSD1 | c.2266G>A (p.Ala756Thr) n.612+7246G>A n.2722G>A c.2830G>A (p.Ala944Thr) n.2536G>A c.3139G>A (p.Ala1047Thr) n.3286G>A c.2332G>A (p.Ala778Thr) c.2719G>A (p.Ala907Thr) c.2083G>A (p.Ala695Thr) c.-857G>A (n.-857G>A) | |
5 | g.177211538G>C | CA362322247 | NSD1 | c.2266G>C (p.Ala756Pro) n.612+7246G>C n.2722G>C c.2830G>C (p.Ala944Pro) n.2536G>C c.3139G>C (p.Ala1047Pro) n.3286G>C c.2332G>C (p.Ala778Pro) c.2719G>C (p.Ala907Pro) c.2083G>C (p.Ala695Pro) c.-857G>C (n.-857G>C) | |
5 | g.177211538G>T | CA362322249 | NSD1 | c.2266G>T (p.Ala756Ser) n.612+7246G>T n.2722G>T c.2830G>T (p.Ala944Ser) n.2536G>T c.3139G>T (p.Ala1047Ser) n.3286G>T c.2332G>T (p.Ala778Ser) c.2719G>T (p.Ala907Ser) c.2083G>T (p.Ala695Ser) c.-857G>T (n.-857G>T) | |
5 | g.177211539C>A | CA362322257 | NSD1 | c.2267C>A (p.Ala756Asp) n.612+7247C>A n.2723C>A c.2831C>A (p.Ala944Asp) n.2537C>A c.3140C>A (p.Ala1047Asp) n.3287C>A c.2333C>A (p.Ala778Asp) c.2720C>A (p.Ala907Asp) c.2084C>A (p.Ala695Asp) c.-856C>A (n.-856C>A) | dbSNP |
5 | g.177211539C= | CA1603478156 | NSD1 | c.2267C= (p.Ala756=) n.612+7247C= n.2723C= c.2831C= (p.Ala944=) n.2537C= c.3140C= (p.Ala1047=) n.3287C= c.2333C= (p.Ala778=) c.2720C= (p.Ala907=) c.2084C= (p.Ala695=) c.-856C= (n.-856C=) | |
5 | g.177211539C>G | CA362322254 | NSD1 | c.2267C>G (p.Ala756Gly) n.612+7247C>G n.2723C>G c.2831C>G (p.Ala944Gly) n.2537C>G c.3140C>G (p.Ala1047Gly) n.3287C>G c.2333C>G (p.Ala778Gly) c.2720C>G (p.Ala907Gly) c.2084C>G (p.Ala695Gly) c.-856C>G (n.-856C>G) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
5 | g.177211539C>T | CA362322252 | NSD1 | c.2267C>T (p.Ala756Val) n.612+7247C>T n.2723C>T c.2831C>T (p.Ala944Val) n.2537C>T c.3140C>T (p.Ala1047Val) n.3287C>T c.2333C>T (p.Ala778Val) c.2720C>T (p.Ala907Val) c.2084C>T (p.Ala695Val) c.-856C>T (n.-856C>T) | dbSNP gnomAD v2 |
5 | g.177211540del | CA2695202826 | NSD1 | c.2268del (p.Leu757Ter) n.612+7248del n.2724del c.2832del (p.Leu945Ter) n.2538del c.3141del (p.Leu1048Ter) n.3288del c.2334del (p.Leu779Ter) c.2721del (p.Leu908Ter) c.2085del (p.Leu696Ter) c.-855del (n.-855del) | |
5 | g.177211540C>A | CA447960925 | NSD1 | c.2268C>A (p.Ala756=) n.612+7248C>A n.2724C>A c.2832C>A (p.Ala944=) n.2538C>A c.3141C>A (p.Ala1047=) n.3288C>A c.2334C>A (p.Ala778=) c.2721C>A (p.Ala907=) c.2085C>A (p.Ala695=) c.-855C>A (n.-855C>A) | |
5 | g.177211540C>G | CA447960926 | NSD1 | c.2268C>G (p.Ala756=) n.612+7248C>G n.2724C>G c.2832C>G (p.Ala944=) n.2538C>G c.3141C>G (p.Ala1047=) n.3288C>G c.2334C>G (p.Ala778=) c.2721C>G (p.Ala907=) c.2085C>G (p.Ala695=) c.-855C>G (n.-855C>G) | |
5 | g.177211540C>T | CA447960927 | NSD1 | c.2268C>T (p.Ala756=) n.612+7248C>T n.2724C>T c.2832C>T (p.Ala944=) n.2538C>T c.3141C>T (p.Ala1047=) n.3288C>T c.2334C>T (p.Ala778=) c.2721C>T (p.Ala907=) c.2085C>T (p.Ala695=) c.-855C>T (n.-855C>T) | |
5 | g.177211541T>A | CA362322260 | NSD1 | c.2269T>A (p.Leu757Ile) n.612+7249T>A n.2725T>A c.2833T>A (p.Leu945Ile) n.2539T>A c.3142T>A (p.Leu1048Ile) n.3289T>A c.2335T>A (p.Leu779Ile) c.2722T>A (p.Leu908Ile) c.2086T>A (p.Leu696Ile) c.-854T>A (n.-854T>A) | |
5 | g.177211541T>C | CA447960928 | NSD1 | c.2269T>C (p.Leu757=) n.612+7249T>C n.2725T>C c.2833T>C (p.Leu945=) n.2539T>C c.3142T>C (p.Leu1048=) n.3289T>C c.2335T>C (p.Leu779=) c.2722T>C (p.Leu908=) c.2086T>C (p.Leu696=) c.-854T>C (n.-854T>C) | |
5 | g.177211541T>G | CA362322264 | NSD1 | c.2269T>G (p.Leu757Val) n.612+7249T>G n.2725T>G c.2833T>G (p.Leu945Val) n.2539T>G c.3142T>G (p.Leu1048Val) n.3289T>G c.2335T>G (p.Leu779Val) c.2722T>G (p.Leu908Val) c.2086T>G (p.Leu696Val) c.-854T>G (n.-854T>G) | gnomAD v4 |
5 | g.177211542T>A | CA362322268 | NSD1 | c.2270T>A (p.Leu757Ter) n.612+7250T>A n.2726T>A c.2834T>A (p.Leu945Ter) n.2540T>A c.3143T>A (p.Leu1048Ter) n.3290T>A c.2336T>A (p.Leu779Ter) c.2723T>A (p.Leu908Ter) c.2087T>A (p.Leu696Ter) c.-853T>A (n.-853T>A) | |
5 | g.177211542T>C | CA362322271 | NSD1 | c.2270T>C (p.Leu757Ser) n.612+7250T>C n.2726T>C c.2834T>C (p.Leu945Ser) n.2540T>C c.3143T>C (p.Leu1048Ser) n.3290T>C c.2336T>C (p.Leu779Ser) c.2723T>C (p.Leu908Ser) c.2087T>C (p.Leu696Ser) c.-853T>C (n.-853T>C) | |
5 | g.177211542T>G | CA362322274 | NSD1 | c.2270T>G (p.Leu757Ter) n.612+7250T>G n.2726T>G c.2834T>G (p.Leu945Ter) n.2540T>G c.3143T>G (p.Leu1048Ter) n.3290T>G c.2336T>G (p.Leu779Ter) c.2723T>G (p.Leu908Ter) c.2087T>G (p.Leu696Ter) c.-853T>G (n.-853T>G) | |
5 | g.177211542T= | CA1603478162 | NSD1 | c.2270T= (p.Leu757=) n.612+7250T= n.2726T= c.2834T= (p.Leu945=) n.2540T= c.3143T= (p.Leu1048=) n.3290T= c.2336T= (p.Leu779=) c.2723T= (p.Leu908=) c.2087T= (p.Leu696=) c.-853T= (n.-853T=) | |
5 | g.177211543A= | CA1603478175 | NSD1 | c.2271A= (p.Leu757=) n.612+7251A= n.2727A= c.2835A= (p.Leu945=) n.2541A= c.3144A= (p.Leu1048=) n.3291A= c.2337A= (p.Leu779=) c.2724A= (p.Leu908=) c.2088A= (p.Leu696=) c.-852A= (n.-852A=) | |
5 | g.177211543A>C | CA362322279 | NSD1 | c.2271A>C (p.Leu757Phe) n.612+7251A>C n.2727A>C c.2835A>C (p.Leu945Phe) n.2541A>C c.3144A>C (p.Leu1048Phe) n.3291A>C c.2337A>C (p.Leu779Phe) c.2724A>C (p.Leu908Phe) c.2088A>C (p.Leu696Phe) c.-852A>C (n.-852A>C) | |
5 | g.177211543A>G | CA447960932 | NSD1 | c.2271A>G (p.Leu757=) n.612+7251A>G n.2727A>G c.2835A>G (p.Leu945=) n.2541A>G c.3144A>G (p.Leu1048=) n.3291A>G c.2337A>G (p.Leu779=) c.2724A>G (p.Leu908=) c.2088A>G (p.Leu696=) c.-852A>G (n.-852A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211543A>T | CA362322282 | NSD1 | c.2271A>T (p.Leu757Phe) n.612+7251A>T n.2727A>T c.2835A>T (p.Leu945Phe) n.2541A>T c.3144A>T (p.Leu1048Phe) n.3291A>T c.2337A>T (p.Leu779Phe) c.2724A>T (p.Leu908Phe) c.2088A>T (p.Leu696Phe) c.-852A>T (n.-852A>T) | |
5 | g.177211545dup | CA319747 | NSD1 | c.2273dup (p.Thr759AspfsTer16) n.612+7253dup n.2729dup c.2837dup (p.Thr947AspfsTer16) n.2543dup c.3146dup (p.Thr1050AspfsTer16) n.3293dup c.2339dup (p.Thr781AspfsTer16) c.2726dup (p.Thr910AspfsTer16) c.2090dup (p.Thr698AspfsTer16) c.-850dup (n.-850dup) | ClinVar dbSNP |
5 | g.177211544_177211545dup | CA2499217771 | NSD1 | c.2272_2273dup (p.Thr759ArgfsTer8) n.612+7252_612+7253dup n.2728_2729dup c.2836_2837dup (p.Thr947ArgfsTer8) n.2542_2543dup c.3145_3146dup (p.Thr1050ArgfsTer8) n.3292_3293dup c.2338_2339dup (p.Thr781ArgfsTer8) c.2725_2726dup (p.Thr910ArgfsTer8) c.2089_2090dup (p.Thr698ArgfsTer8) c.-851_-850dup (n.-851_-850dup) | ClinVar dbSNP |
5 | g.177211544A>C | CA362322287 | NSD1 | c.2272A>C (p.Lys758Gln) n.612+7252A>C n.2728A>C c.2836A>C (p.Lys946Gln) n.2542A>C c.3145A>C (p.Lys1049Gln) n.3292A>C c.2338A>C (p.Lys780Gln) c.2725A>C (p.Lys909Gln) c.2089A>C (p.Lys697Gln) c.-851A>C (n.-851A>C) | |
5 | g.177211544A>G | CA362322290 | NSD1 | c.2272A>G (p.Lys758Glu) n.612+7252A>G n.2728A>G c.2836A>G (p.Lys946Glu) n.2542A>G c.3145A>G (p.Lys1049Glu) n.3292A>G c.2338A>G (p.Lys780Glu) c.2725A>G (p.Lys909Glu) c.2089A>G (p.Lys697Glu) c.-851A>G (n.-851A>G) | |
5 | g.177211544A>T | CA362322293 | NSD1 | c.2272A>T (p.Lys758Ter) n.612+7252A>T n.2728A>T c.2836A>T (p.Lys946Ter) n.2542A>T c.3145A>T (p.Lys1049Ter) n.3292A>T c.2338A>T (p.Lys780Ter) c.2725A>T (p.Lys909Ter) c.2089A>T (p.Lys697Ter) c.-851A>T (n.-851A>T) | |
5 | g.177211545A>C | CA362322296 | NSD1 | c.2273A>C (p.Lys758Thr) n.612+7253A>C n.2729A>C c.2837A>C (p.Lys946Thr) n.2543A>C c.3146A>C (p.Lys1049Thr) n.3293A>C c.2339A>C (p.Lys780Thr) c.2726A>C (p.Lys909Thr) c.2090A>C (p.Lys697Thr) c.-850A>C (n.-850A>C) | |
5 | g.177211545A>G | CA362322299 | NSD1 | c.2273A>G (p.Lys758Arg) n.612+7253A>G n.2729A>G c.2837A>G (p.Lys946Arg) n.2543A>G c.3146A>G (p.Lys1049Arg) n.3293A>G c.2339A>G (p.Lys780Arg) c.2726A>G (p.Lys909Arg) c.2090A>G (p.Lys697Arg) c.-850A>G (n.-850A>G) | |
5 | g.177211545A>T | CA362322301 | NSD1 | c.2273A>T (p.Lys758Met) n.612+7253A>T n.2729A>T c.2837A>T (p.Lys946Met) n.2543A>T c.3146A>T (p.Lys1049Met) n.3293A>T c.2339A>T (p.Lys780Met) c.2726A>T (p.Lys909Met) c.2090A>T (p.Lys697Met) c.-850A>T (n.-850A>T) | |
5 | g.177211546G>A | CA447960934 | NSD1 | c.2274G>A (p.Lys758=) n.612+7254G>A n.2730G>A c.2838G>A (p.Lys946=) n.2544G>A c.3147G>A (p.Lys1049=) n.3294G>A c.2340G>A (p.Lys780=) c.2727G>A (p.Lys909=) c.2091G>A (p.Lys697=) c.-849G>A (n.-849G>A) | |
5 | g.177211546G>C | CA362322304 | NSD1 | c.2274G>C (p.Lys758Asn) n.612+7254G>C n.2730G>C c.2838G>C (p.Lys946Asn) n.2544G>C c.3147G>C (p.Lys1049Asn) n.3294G>C c.2340G>C (p.Lys780Asn) c.2727G>C (p.Lys909Asn) c.2091G>C (p.Lys697Asn) c.-849G>C (n.-849G>C) | |
5 | g.177211546G>T | CA362322306 | NSD1 | c.2274G>T (p.Lys758Asn) n.612+7254G>T n.2730G>T c.2838G>T (p.Lys946Asn) n.2544G>T c.3147G>T (p.Lys1049Asn) n.3294G>T c.2340G>T (p.Lys780Asn) c.2727G>T (p.Lys909Asn) c.2091G>T (p.Lys697Asn) c.-849G>T (n.-849G>T) | |
5 | g.177211547A>C | CA362322310 | NSD1 | c.2275A>C (p.Thr759Pro) n.612+7255A>C n.2731A>C c.2839A>C (p.Thr947Pro) n.2545A>C c.3148A>C (p.Thr1050Pro) n.3295A>C c.2341A>C (p.Thr781Pro) c.2728A>C (p.Thr910Pro) c.2092A>C (p.Thr698Pro) c.-848A>C (n.-848A>C) | |
5 | g.177211547A>G | CA362322312 | NSD1 | c.2275A>G (p.Thr759Ala) n.612+7255A>G n.2731A>G c.2839A>G (p.Thr947Ala) n.2545A>G c.3148A>G (p.Thr1050Ala) n.3295A>G c.2341A>G (p.Thr781Ala) c.2728A>G (p.Thr910Ala) c.2092A>G (p.Thr698Ala) c.-848A>G (n.-848A>G) | |
5 | g.177211547A>T | CA362322315 | NSD1 | c.2275A>T (p.Thr759Ser) n.612+7255A>T n.2731A>T c.2839A>T (p.Thr947Ser) n.2545A>T c.3148A>T (p.Thr1050Ser) n.3295A>T c.2341A>T (p.Thr781Ser) c.2728A>T (p.Thr910Ser) c.2092A>T (p.Thr698Ser) c.-848A>T (n.-848A>T) | |
5 | g.177211548C>A | CA362322319 | NSD1 | c.2276C>A (p.Thr759Asn) n.612+7256C>A n.2732C>A c.2840C>A (p.Thr947Asn) n.2546C>A c.3149C>A (p.Thr1050Asn) n.3296C>A c.2342C>A (p.Thr781Asn) c.2729C>A (p.Thr910Asn) c.2093C>A (p.Thr698Asn) c.-847C>A (n.-847C>A) | dbSNP |
5 | g.177211548C>G | CA362322322 | NSD1 | c.2276C>G (p.Thr759Ser) n.612+7256C>G n.2732C>G c.2840C>G (p.Thr947Ser) n.2546C>G c.3149C>G (p.Thr1050Ser) n.3296C>G c.2342C>G (p.Thr781Ser) c.2729C>G (p.Thr910Ser) c.2093C>G (p.Thr698Ser) c.-847C>G (n.-847C>G) | dbSNP |
5 | g.177211548C>T | CA362322323 | NSD1 | c.2276C>T (p.Thr759Ile) n.612+7256C>T n.2732C>T c.2840C>T (p.Thr947Ile) n.2546C>T c.3149C>T (p.Thr1050Ile) n.3296C>T c.2342C>T (p.Thr781Ile) c.2729C>T (p.Thr910Ile) c.2093C>T (p.Thr698Ile) c.-847C>T (n.-847C>T) | gnomAD v4 |
5 | g.177211549C>A | CA447960941 | NSD1 | c.2277C>A (p.Thr759=) n.612+7257C>A n.2733C>A c.2841C>A (p.Thr947=) n.2547C>A c.3150C>A (p.Thr1050=) n.3297C>A c.2343C>A (p.Thr781=) c.2730C>A (p.Thr910=) c.2094C>A (p.Thr698=) c.-846C>A (n.-846C>A) | dbSNP gnomAD v4 |
5 | g.177211549C= | CA1603478179 | NSD1 | c.2277C= (p.Thr759=) n.612+7257C= n.2733C= c.2841C= (p.Thr947=) n.2547C= c.3150C= (p.Thr1050=) n.3297C= c.2343C= (p.Thr781=) c.2730C= (p.Thr910=) c.2094C= (p.Thr698=) c.-846C= (n.-846C=) | |
5 | g.177211549C>G | CA447960942 | NSD1 | c.2277C>G (p.Thr759=) n.612+7257C>G n.2733C>G c.2841C>G (p.Thr947=) n.2547C>G c.3150C>G (p.Thr1050=) n.3297C>G c.2343C>G (p.Thr781=) c.2730C>G (p.Thr910=) c.2094C>G (p.Thr698=) c.-846C>G (n.-846C>G) | |
5 | g.177211549C>T | CA223667 | NSD1 | c.2277C>T (p.Thr759=) n.612+7257C>T n.2733C>T c.2841C>T (p.Thr947=) n.2547C>T c.3150C>T (p.Thr1050=) n.3297C>T c.2343C>T (p.Thr781=) c.2730C>T (p.Thr910=) c.2094C>T (p.Thr698=) c.-846C>T (n.-846C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211550G>A | CA3577386 | NSD1 | c.2278G>A (p.Glu760Lys) n.612+7258G>A n.2734G>A c.2842G>A (p.Glu948Lys) n.2548G>A c.3151G>A (p.Glu1051Lys) n.3298G>A c.2344G>A (p.Glu782Lys) c.2731G>A (p.Glu911Lys) c.2095G>A (p.Glu699Lys) c.-845G>A (n.-845G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211550G>C | CA362322327 | NSD1 | c.2278G>C (p.Glu760Gln) n.612+7258G>C n.2734G>C c.2842G>C (p.Glu948Gln) n.2548G>C c.3151G>C (p.Glu1051Gln) n.3298G>C c.2344G>C (p.Glu782Gln) c.2731G>C (p.Glu911Gln) c.2095G>C (p.Glu699Gln) c.-845G>C (n.-845G>C) | |
5 | g.177211550G= | CA1603478183 | NSD1 | c.2278G= (p.Glu760=) n.612+7258G= n.2734G= c.2842G= (p.Glu948=) n.2548G= c.3151G= (p.Glu1051=) n.3298G= c.2344G= (p.Glu782=) c.2731G= (p.Glu911=) c.2095G= (p.Glu699=) c.-845G= (n.-845G=) | |
5 | g.177211550G>T | CA362322329 | NSD1 | c.2278G>T (p.Glu760Ter) n.612+7258G>T n.2734G>T c.2842G>T (p.Glu948Ter) n.2548G>T c.3151G>T (p.Glu1051Ter) n.3298G>T c.2344G>T (p.Glu782Ter) c.2731G>T (p.Glu911Ter) c.2095G>T (p.Glu699Ter) c.-845G>T (n.-845G>T) | |
5 | g.177211551A>C | CA362322332 | NSD1 | c.2279A>C (p.Glu760Ala) n.612+7259A>C n.2735A>C c.2843A>C (p.Glu948Ala) n.2549A>C c.3152A>C (p.Glu1051Ala) n.3299A>C c.2345A>C (p.Glu782Ala) c.2732A>C (p.Glu911Ala) c.2096A>C (p.Glu699Ala) c.-844A>C (n.-844A>C) | |
5 | g.177211551A>G | CA362322333 | NSD1 | c.2279A>G (p.Glu760Gly) n.612+7259A>G n.2735A>G c.2843A>G (p.Glu948Gly) n.2549A>G c.3152A>G (p.Glu1051Gly) n.3299A>G c.2345A>G (p.Glu782Gly) c.2732A>G (p.Glu911Gly) c.2096A>G (p.Glu699Gly) c.-844A>G (n.-844A>G) | |
5 | g.177211551A>T | CA362322334 | NSD1 | c.2279A>T (p.Glu760Val) n.612+7259A>T n.2735A>T c.2843A>T (p.Glu948Val) n.2549A>T c.3152A>T (p.Glu1051Val) n.3299A>T c.2345A>T (p.Glu782Val) c.2732A>T (p.Glu911Val) c.2096A>T (p.Glu699Val) c.-844A>T (n.-844A>T) | |
5 | g.177211552G>A | CA447960947 | NSD1 | c.2280G>A (p.Glu760=) n.612+7260G>A n.2736G>A c.2844G>A (p.Glu948=) n.2550G>A c.3153G>A (p.Glu1051=) n.3300G>A c.2346G>A (p.Glu782=) c.2733G>A (p.Glu911=) c.2097G>A (p.Glu699=) c.-843G>A (n.-843G>A) | |
5 | g.177211552G>C | CA362322337 | NSD1 | c.2280G>C (p.Glu760Asp) n.612+7260G>C n.2736G>C c.2844G>C (p.Glu948Asp) n.2550G>C c.3153G>C (p.Glu1051Asp) n.3300G>C c.2346G>C (p.Glu782Asp) c.2733G>C (p.Glu911Asp) c.2097G>C (p.Glu699Asp) c.-843G>C (n.-843G>C) | |
5 | g.177211552G= | CA1603478187 | NSD1 | c.2280G= (p.Glu760=) n.612+7260G= n.2736G= c.2844G= (p.Glu948=) n.2550G= c.3153G= (p.Glu1051=) n.3300G= c.2346G= (p.Glu782=) c.2733G= (p.Glu911=) c.2097G= (p.Glu699=) c.-843G= (n.-843G=) | |
5 | g.177211552G>T | CA362322336 | NSD1 | c.2280G>T (p.Glu760Asp) n.612+7260G>T n.2736G>T c.2844G>T (p.Glu948Asp) n.2550G>T c.3153G>T (p.Glu1051Asp) n.3300G>T c.2346G>T (p.Glu782Asp) c.2733G>T (p.Glu911Asp) c.2097G>T (p.Glu699Asp) c.-843G>T (n.-843G>T) | dbSNP |
5 | g.177211553C>A | CA362322338 | NSD1 | c.2281C>A (p.Arg761Ser) n.612+7261C>A n.2737C>A c.2845C>A (p.Arg949Ser) n.2551C>A c.3154C>A (p.Arg1052Ser) n.3301C>A c.2347C>A (p.Arg783Ser) c.2734C>A (p.Arg912Ser) c.2098C>A (p.Arg700Ser) c.-842C>A (n.-842C>A) | dbSNP |
5 | g.177211553C= | CA1603478195 | NSD1 | c.2281C= (p.Arg761=) n.612+7261C= n.2737C= c.2845C= (p.Arg949=) n.2551C= c.3154C= (p.Arg1052=) n.3301C= c.2347C= (p.Arg783=) c.2734C= (p.Arg912=) c.2098C= (p.Arg700=) c.-842C= (n.-842C=) | |
5 | g.177211553C>G | CA362322340 | NSD1 | c.2281C>G (p.Arg761Gly) n.612+7261C>G n.2737C>G c.2845C>G (p.Arg949Gly) n.2551C>G c.3154C>G (p.Arg1052Gly) n.3301C>G c.2347C>G (p.Arg783Gly) c.2734C>G (p.Arg912Gly) c.2098C>G (p.Arg700Gly) c.-842C>G (n.-842C>G) | |
5 | g.177211553C>T | CA203122 | NSD1 | c.2281C>T (p.Arg761Cys) n.612+7261C>T n.2737C>T c.2845C>T (p.Arg949Cys) n.2551C>T c.3154C>T (p.Arg1052Cys) n.3301C>T c.2347C>T (p.Arg783Cys) c.2734C>T (p.Arg912Cys) c.2098C>T (p.Arg700Cys) c.-842C>T (n.-842C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211554G>A | CA362322345 | NSD1 | c.2282G>A (p.Arg761His) n.612+7262G>A n.2738G>A c.2846G>A (p.Arg949His) n.2552G>A c.3155G>A (p.Arg1052His) n.3302G>A c.2348G>A (p.Arg783His) c.2735G>A (p.Arg912His) c.2099G>A (p.Arg700His) c.-841G>A (n.-841G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
5 | g.177211554G>C | CA362322347 | NSD1 | c.2282G>C (p.Arg761Pro) n.612+7262G>C n.2738G>C c.2846G>C (p.Arg949Pro) n.2552G>C c.3155G>C (p.Arg1052Pro) n.3302G>C c.2348G>C (p.Arg783Pro) c.2735G>C (p.Arg912Pro) c.2099G>C (p.Arg700Pro) c.-841G>C (n.-841G>C) | |
5 | g.177211554G= | CA1603478204 | NSD1 | c.2282G= (p.Arg761=) n.612+7262G= n.2738G= c.2846G= (p.Arg949=) n.2552G= c.3155G= (p.Arg1052=) n.3302G= c.2348G= (p.Arg783=) c.2735G= (p.Arg912=) c.2099G= (p.Arg700=) c.-841G= (n.-841G=) | |
5 | g.177211554G>T | CA362322349 | NSD1 | c.2282G>T (p.Arg761Leu) n.612+7262G>T n.2738G>T c.2846G>T (p.Arg949Leu) n.2552G>T c.3155G>T (p.Arg1052Leu) n.3302G>T c.2348G>T (p.Arg783Leu) c.2735G>T (p.Arg912Leu) c.2099G>T (p.Arg700Leu) c.-841G>T (n.-841G>T) | |
5 | g.177211555C>A | CA447960952 | NSD1 | c.2283C>A (p.Arg761=) n.612+7263C>A n.2739C>A c.2847C>A (p.Arg949=) n.2553C>A c.3156C>A (p.Arg1052=) n.3303C>A c.2349C>A (p.Arg783=) c.2736C>A (p.Arg912=) c.2100C>A (p.Arg700=) c.-840C>A (n.-840C>A) | |
5 | g.177211555C>G | CA447960951 | NSD1 | c.2283C>G (p.Arg761=) n.612+7263C>G n.2739C>G c.2847C>G (p.Arg949=) n.2553C>G c.3156C>G (p.Arg1052=) n.3303C>G c.2349C>G (p.Arg783=) c.2736C>G (p.Arg912=) c.2100C>G (p.Arg700=) c.-840C>G (n.-840C>G) | |
5 | g.177211555C>T | CA447960950 | NSD1 | c.2283C>T (p.Arg761=) n.612+7263C>T n.2739C>T c.2847C>T (p.Arg949=) n.2553C>T c.3156C>T (p.Arg1052=) n.3303C>T c.2349C>T (p.Arg783=) c.2736C>T (p.Arg912=) c.2100C>T (p.Arg700=) c.-840C>T (n.-840C>T) | |
5 | g.177211556A= | CA1603478206 | NSD1 | c.2284A= (p.Lys762=) n.612+7264A= n.2740A= c.2848A= (p.Lys950=) n.2554A= c.3157A= (p.Lys1053=) n.3304A= c.2350A= (p.Lys784=) c.2737A= (p.Lys913=) c.2101A= (p.Lys701=) c.-839A= (n.-839A=) | |
5 | g.177211556A>C | CA3577387 | NSD1 | c.2284A>C (p.Lys762Gln) n.612+7264A>C n.2740A>C c.2848A>C (p.Lys950Gln) n.2554A>C c.3157A>C (p.Lys1053Gln) n.3304A>C c.2350A>C (p.Lys784Gln) c.2737A>C (p.Lys913Gln) c.2101A>C (p.Lys701Gln) c.-839A>C (n.-839A>C) | dbSNP ExAC gnomAD v2 |
5 | g.177211556A>G | CA362322354 | NSD1 | c.2284A>G (p.Lys762Glu) n.612+7264A>G n.2740A>G c.2848A>G (p.Lys950Glu) n.2554A>G c.3157A>G (p.Lys1053Glu) n.3304A>G c.2350A>G (p.Lys784Glu) c.2737A>G (p.Lys913Glu) c.2101A>G (p.Lys701Glu) c.-839A>G (n.-839A>G) | gnomAD v4 |
5 | g.177211556A>T | CA362322356 | NSD1 | c.2284A>T (p.Lys762Ter) n.612+7264A>T n.2740A>T c.2848A>T (p.Lys950Ter) n.2554A>T c.3157A>T (p.Lys1053Ter) n.3304A>T c.2350A>T (p.Lys784Ter) c.2737A>T (p.Lys913Ter) c.2101A>T (p.Lys701Ter) c.-839A>T (n.-839A>T) | |
5 | g.177211559del | CA2695202827 | NSD1 | c.2287del (p.Arg763GlufsTer3) n.612+7267del n.2743del c.2851del (p.Arg951GlufsTer3) n.2557del c.3160del (p.Arg1054GlufsTer3) n.3307del c.2353del (p.Arg785GlufsTer3) c.2740del (p.Arg914GlufsTer3) c.2104del (p.Arg702GlufsTer3) c.-836del (n.-836del) | |
5 | g.177211557A>C | CA362322357 | NSD1 | c.2285A>C (p.Lys762Thr) n.612+7265A>C n.2741A>C c.2849A>C (p.Lys950Thr) n.2555A>C c.3158A>C (p.Lys1053Thr) n.3305A>C c.2351A>C (p.Lys784Thr) c.2738A>C (p.Lys913Thr) c.2102A>C (p.Lys701Thr) c.-838A>C (n.-838A>C) | |
5 | g.177211557A>G | CA362322359 | NSD1 | c.2285A>G (p.Lys762Arg) n.612+7265A>G n.2741A>G c.2849A>G (p.Lys950Arg) n.2555A>G c.3158A>G (p.Lys1053Arg) n.3305A>G c.2351A>G (p.Lys784Arg) c.2738A>G (p.Lys913Arg) c.2102A>G (p.Lys701Arg) c.-838A>G (n.-838A>G) | |
5 | g.177211557A>T | CA362322360 | NSD1 | c.2285A>T (p.Lys762Ile) n.612+7265A>T n.2741A>T c.2849A>T (p.Lys950Ile) n.2555A>T c.3158A>T (p.Lys1053Ile) n.3305A>T c.2351A>T (p.Lys784Ile) c.2738A>T (p.Lys913Ile) c.2102A>T (p.Lys701Ile) c.-838A>T (n.-838A>T) | |
5 | g.177211558A>C | CA362322363 | NSD1 | c.2286A>C (p.Lys762Asn) n.612+7266A>C n.2742A>C c.2850A>C (p.Lys950Asn) n.2556A>C c.3159A>C (p.Lys1053Asn) n.3306A>C c.2352A>C (p.Lys784Asn) c.2739A>C (p.Lys913Asn) c.2103A>C (p.Lys701Asn) c.-837A>C (n.-837A>C) | |
5 | g.177211558A>G | CA447960954 | NSD1 | c.2286A>G (p.Lys762=) n.612+7266A>G n.2742A>G c.2850A>G (p.Lys950=) n.2556A>G c.3159A>G (p.Lys1053=) n.3306A>G c.2352A>G (p.Lys784=) c.2739A>G (p.Lys913=) c.2103A>G (p.Lys701=) c.-837A>G (n.-837A>G) | |
5 | g.177211558A>T | CA362322365 | NSD1 | c.2286A>T (p.Lys762Asn) n.612+7266A>T n.2742A>T c.2850A>T (p.Lys950Asn) n.2556A>T c.3159A>T (p.Lys1053Asn) n.3306A>T c.2352A>T (p.Lys784Asn) c.2739A>T (p.Lys913Asn) c.2103A>T (p.Lys701Asn) c.-837A>T (n.-837A>T) | |
5 | g.177211559A>C | CA447960955 | NSD1 | c.2287A>C (p.Arg763=) n.612+7267A>C n.2743A>C c.2851A>C (p.Arg951=) n.2557A>C c.3160A>C (p.Arg1054=) n.3307A>C c.2353A>C (p.Arg785=) c.2740A>C (p.Arg914=) c.2104A>C (p.Arg702=) c.-836A>C (n.-836A>C) | |
5 | g.177211559A>G | CA362322367 | NSD1 | c.2287A>G (p.Arg763Gly) n.612+7267A>G n.2743A>G c.2851A>G (p.Arg951Gly) n.2557A>G c.3160A>G (p.Arg1054Gly) n.3307A>G c.2353A>G (p.Arg785Gly) c.2740A>G (p.Arg914Gly) c.2104A>G (p.Arg702Gly) c.-836A>G (n.-836A>G) | gnomAD v4 |
5 | g.177211559A>T | CA362322369 | NSD1 | c.2287A>T (p.Arg763Ter) n.612+7267A>T n.2743A>T c.2851A>T (p.Arg951Ter) n.2557A>T c.3160A>T (p.Arg1054Ter) n.3307A>T c.2353A>T (p.Arg785Ter) c.2740A>T (p.Arg914Ter) c.2104A>T (p.Arg702Ter) c.-836A>T (n.-836A>T) | |
5 | g.177211560G>A | CA362322374 | NSD1 | c.2288G>A (p.Arg763Lys) n.612+7268G>A n.2744G>A c.2852G>A (p.Arg951Lys) n.2558G>A c.3161G>A (p.Arg1054Lys) n.3308G>A c.2354G>A (p.Arg785Lys) c.2741G>A (p.Arg914Lys) c.2105G>A (p.Arg702Lys) c.-835G>A (n.-835G>A) | dbSNP |
5 | g.177211560G>C | CA362322378 | NSD1 | c.2288G>C (p.Arg763Thr) n.612+7268G>C n.2744G>C c.2852G>C (p.Arg951Thr) n.2558G>C c.3161G>C (p.Arg1054Thr) n.3308G>C c.2354G>C (p.Arg785Thr) c.2741G>C (p.Arg914Thr) c.2105G>C (p.Arg702Thr) c.-835G>C (n.-835G>C) | dbSNP COSMIC COSMIC |
5 | g.177211560G>T | CA362322376 | NSD1 | c.2288G>T (p.Arg763Ile) n.612+7268G>T n.2744G>T c.2852G>T (p.Arg951Ile) n.2558G>T c.3161G>T (p.Arg1054Ile) n.3308G>T c.2354G>T (p.Arg785Ile) c.2741G>T (p.Arg914Ile) c.2105G>T (p.Arg702Ile) c.-835G>T (n.-835G>T) | |
5 | g.177211561A= | CA1603478218 | NSD1 | c.2289A= (p.Arg763=) n.612+7269A= n.2745A= c.2853A= (p.Arg951=) n.2559A= c.3162A= (p.Arg1054=) n.3309A= c.2355A= (p.Arg785=) c.2742A= (p.Arg914=) c.2106A= (p.Arg702=) c.-834A= (n.-834A=) | |
5 | g.177211561A>C | CA362322380 | NSD1 | c.2289A>C (p.Arg763Ser) n.612+7269A>C n.2745A>C c.2853A>C (p.Arg951Ser) n.2559A>C c.3162A>C (p.Arg1054Ser) n.3309A>C c.2355A>C (p.Arg785Ser) c.2742A>C (p.Arg914Ser) c.2106A>C (p.Arg702Ser) c.-834A>C (n.-834A>C) | |
5 | g.177211561A>G | CA447960956 | NSD1 | c.2289A>G (p.Arg763=) n.612+7269A>G n.2745A>G c.2853A>G (p.Arg951=) n.2559A>G c.3162A>G (p.Arg1054=) n.3309A>G c.2355A>G (p.Arg785=) c.2742A>G (p.Arg914=) c.2106A>G (p.Arg702=) c.-834A>G (n.-834A>G) | dbSNP |
5 | g.177211561A>T | CA362322384 | NSD1 | c.2289A>T (p.Arg763Ser) n.612+7269A>T n.2745A>T c.2853A>T (p.Arg951Ser) n.2559A>T c.3162A>T (p.Arg1054Ser) n.3309A>T c.2355A>T (p.Arg785Ser) c.2742A>T (p.Arg914Ser) c.2106A>T (p.Arg702Ser) c.-834A>T (n.-834A>T) | |
5 | g.177211562A= | CA1603478220 | NSD1 | c.2290A= (p.Lys764=) n.612+7270A= n.2746A= c.2854A= (p.Lys952=) n.2560A= c.3163A= (p.Lys1055=) n.3310A= c.2356A= (p.Lys786=) c.2743A= (p.Lys915=) c.2107A= (p.Lys703=) c.-833A= (n.-833A=) | |
5 | g.177211562A>C | CA362322388 | NSD1 | c.2290A>C (p.Lys764Gln) n.612+7270A>C n.2746A>C c.2854A>C (p.Lys952Gln) n.2560A>C c.3163A>C (p.Lys1055Gln) n.3310A>C c.2356A>C (p.Lys786Gln) c.2743A>C (p.Lys915Gln) c.2107A>C (p.Lys703Gln) c.-833A>C (n.-833A>C) | |
5 | g.177211562A>G | CA362322390 | NSD1 | c.2290A>G (p.Lys764Glu) n.612+7270A>G n.2746A>G c.2854A>G (p.Lys952Glu) n.2560A>G c.3163A>G (p.Lys1055Glu) n.3310A>G c.2356A>G (p.Lys786Glu) c.2743A>G (p.Lys915Glu) c.2107A>G (p.Lys703Glu) c.-833A>G (n.-833A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211562A>T | CA362322392 | NSD1 | c.2290A>T (p.Lys764Ter) n.612+7270A>T n.2746A>T c.2854A>T (p.Lys952Ter) n.2560A>T c.3163A>T (p.Lys1055Ter) n.3310A>T c.2356A>T (p.Lys786Ter) c.2743A>T (p.Lys915Ter) c.2107A>T (p.Lys703Ter) c.-833A>T (n.-833A>T) | |
5 | g.177211563A= | CA1603478229 | NSD1 | c.2291A= (p.Lys764=) n.612+7271A= n.2747A= c.2855A= (p.Lys952=) n.2561A= c.3164A= (p.Lys1055=) n.3311A= c.2357A= (p.Lys786=) c.2744A= (p.Lys915=) c.2108A= (p.Lys703=) c.-832A= (n.-832A=) | |
5 | g.177211563A>C | CA362322397 | NSD1 | c.2291A>C (p.Lys764Thr) n.612+7271A>C n.2747A>C c.2855A>C (p.Lys952Thr) n.2561A>C c.3164A>C (p.Lys1055Thr) n.3311A>C c.2357A>C (p.Lys786Thr) c.2744A>C (p.Lys915Thr) c.2108A>C (p.Lys703Thr) c.-832A>C (n.-832A>C) | |
5 | g.177211563A>G | CA362322400 | NSD1 | c.2291A>G (p.Lys764Arg) n.612+7271A>G n.2747A>G c.2855A>G (p.Lys952Arg) n.2561A>G c.3164A>G (p.Lys1055Arg) n.3311A>G c.2357A>G (p.Lys786Arg) c.2744A>G (p.Lys915Arg) c.2108A>G (p.Lys703Arg) c.-832A>G (n.-832A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211563A>T | CA362322402 | NSD1 | c.2291A>T (p.Lys764Ile) n.612+7271A>T n.2747A>T c.2855A>T (p.Lys952Ile) n.2561A>T c.3164A>T (p.Lys1055Ile) n.3311A>T c.2357A>T (p.Lys786Ile) c.2744A>T (p.Lys915Ile) c.2108A>T (p.Lys703Ile) c.-832A>T (n.-832A>T) | |
5 | g.177211564A>C | CA362322407 | NSD1 | c.2292A>C (p.Lys764Asn) n.612+7272A>C n.2748A>C c.2856A>C (p.Lys952Asn) n.2562A>C c.3165A>C (p.Lys1055Asn) n.3312A>C c.2358A>C (p.Lys786Asn) c.2745A>C (p.Lys915Asn) c.2109A>C (p.Lys703Asn) c.-831A>C (n.-831A>C) | |
5 | g.177211564A>G | CA447960958 | NSD1 | c.2292A>G (p.Lys764=) n.612+7272A>G n.2748A>G c.2856A>G (p.Lys952=) n.2562A>G c.3165A>G (p.Lys1055=) n.3312A>G c.2358A>G (p.Lys786=) c.2745A>G (p.Lys915=) c.2109A>G (p.Lys703=) c.-831A>G (n.-831A>G) | |
5 | g.177211564A>T | CA362322412 | NSD1 | c.2292A>T (p.Lys764Asn) n.612+7272A>T n.2748A>T c.2856A>T (p.Lys952Asn) n.2562A>T c.3165A>T (p.Lys1055Asn) n.3312A>T c.2358A>T (p.Lys786Asn) c.2745A>T (p.Lys915Asn) c.2109A>T (p.Lys703Asn) c.-831A>T (n.-831A>T) | |
5 | g.177211565C>A | CA362322417 | NSD1 | c.2293C>A (p.Leu765Met) n.612+7273C>A n.2749C>A c.2857C>A (p.Leu953Met) n.2563C>A c.3166C>A (p.Leu1056Met) n.3313C>A c.2359C>A (p.Leu787Met) c.2746C>A (p.Leu916Met) c.2110C>A (p.Leu704Met) c.-830C>A (n.-830C>A) | dbSNP |
5 | g.177211565C= | CA1603478244 | NSD1 | c.2293C= (p.Leu765=) n.612+7273C= n.2749C= c.2857C= (p.Leu953=) n.2563C= c.3166C= (p.Leu1056=) n.3313C= c.2359C= (p.Leu787=) c.2746C= (p.Leu916=) c.2110C= (p.Leu704=) c.-830C= (n.-830C=) | |
5 | g.177211565C>G | CA3577388 | NSD1 | c.2293C>G (p.Leu765Val) n.612+7273C>G n.2749C>G c.2857C>G (p.Leu953Val) n.2563C>G c.3166C>G (p.Leu1056Val) n.3313C>G c.2359C>G (p.Leu787Val) c.2746C>G (p.Leu916Val) c.2110C>G (p.Leu704Val) c.-830C>G (n.-830C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211565C>T | CA447960959 | NSD1 | c.2293C>T (p.Leu765=) n.612+7273C>T n.2749C>T c.2857C>T (p.Leu953=) n.2563C>T c.3166C>T (p.Leu1056=) n.3313C>T c.2359C>T (p.Leu787=) c.2746C>T (p.Leu916=) c.2110C>T (p.Leu704=) c.-830C>T (n.-830C>T) | dbSNP |
5 | g.177211566T>A | CA362322423 | NSD1 | c.2294T>A (p.Leu765Gln) n.612+7274T>A n.2750T>A c.2858T>A (p.Leu953Gln) n.2564T>A c.3167T>A (p.Leu1056Gln) n.3314T>A c.2360T>A (p.Leu787Gln) c.2747T>A (p.Leu916Gln) c.2111T>A (p.Leu704Gln) c.-829T>A (n.-829T>A) | |
5 | g.177211566T>C | CA362322418 | NSD1 | c.2294T>C (p.Leu765Pro) n.612+7274T>C n.2750T>C c.2858T>C (p.Leu953Pro) n.2564T>C c.3167T>C (p.Leu1056Pro) n.3314T>C c.2360T>C (p.Leu787Pro) c.2747T>C (p.Leu916Pro) c.2111T>C (p.Leu704Pro) c.-829T>C (n.-829T>C) | gnomAD v4 |
5 | g.177211566T>G | CA362322421 | NSD1 | c.2294T>G (p.Leu765Arg) n.612+7274T>G n.2750T>G c.2858T>G (p.Leu953Arg) n.2564T>G c.3167T>G (p.Leu1056Arg) n.3314T>G c.2360T>G (p.Leu787Arg) c.2747T>G (p.Leu916Arg) c.2111T>G (p.Leu704Arg) c.-829T>G (n.-829T>G) | gnomAD v4 |
5 | g.177211567G>A | CA447960963 | NSD1 | c.2295G>A (p.Leu765=) n.612+7275G>A n.2751G>A c.2859G>A (p.Leu953=) n.2565G>A c.3168G>A (p.Leu1056=) n.3315G>A c.2361G>A (p.Leu787=) c.2748G>A (p.Leu916=) c.2112G>A (p.Leu704=) c.-828G>A (n.-828G>A) | dbSNP |
5 | g.177211567G>C | CA447960964 | NSD1 | c.2295G>C (p.Leu765=) n.612+7275G>C n.2751G>C c.2859G>C (p.Leu953=) n.2565G>C c.3168G>C (p.Leu1056=) n.3315G>C c.2361G>C (p.Leu787=) c.2748G>C (p.Leu916=) c.2112G>C (p.Leu704=) c.-828G>C (n.-828G>C) | |
5 | g.177211567G>T | CA447960965 | NSD1 | c.2295G>T (p.Leu765=) n.612+7275G>T n.2751G>T c.2859G>T (p.Leu953=) n.2565G>T c.3168G>T (p.Leu1056=) n.3315G>T c.2361G>T (p.Leu787=) c.2748G>T (p.Leu916=) c.2112G>T (p.Leu704=) c.-828G>T (n.-828G>T) | |
5 | g.177211568A= | CA1603478252 | NSD1 | c.2296A= (p.Asn766=) n.612+7276A= n.2752A= c.2860A= (p.Asn954=) n.2566A= c.3169A= (p.Asn1057=) n.3316A= c.2362A= (p.Asn788=) c.2749A= (p.Asn917=) c.2113A= (p.Asn705=) c.-827A= (n.-827A=) | |
5 | g.177211568A>C | CA362322430 | NSD1 | c.2296A>C (p.Asn766His) n.612+7276A>C n.2752A>C c.2860A>C (p.Asn954His) n.2566A>C c.3169A>C (p.Asn1057His) n.3316A>C c.2362A>C (p.Asn788His) c.2749A>C (p.Asn917His) c.2113A>C (p.Asn705His) c.-827A>C (n.-827A>C) | |
5 | g.177211568A>G | CA362322435 | NSD1 | c.2296A>G (p.Asn766Asp) n.612+7276A>G n.2752A>G c.2860A>G (p.Asn954Asp) n.2566A>G c.3169A>G (p.Asn1057Asp) n.3316A>G c.2362A>G (p.Asn788Asp) c.2749A>G (p.Asn917Asp) c.2113A>G (p.Asn705Asp) c.-827A>G (n.-827A>G) | |
5 | g.177211568A>T | CA132831078 | NSD1 | c.2296A>T (p.Asn766Tyr) n.612+7276A>T n.2752A>T c.2860A>T (p.Asn954Tyr) n.2566A>T c.3169A>T (p.Asn1057Tyr) n.3316A>T c.2362A>T (p.Asn788Tyr) c.2749A>T (p.Asn917Tyr) c.2113A>T (p.Asn705Tyr) c.-827A>T (n.-827A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211569A>C | CA362322450 | NSD1 | c.2297A>C (p.Asn766Thr) n.612+7277A>C n.2753A>C c.2861A>C (p.Asn954Thr) n.2567A>C c.3170A>C (p.Asn1057Thr) n.3317A>C c.2363A>C (p.Asn788Thr) c.2750A>C (p.Asn917Thr) c.2114A>C (p.Asn705Thr) c.-826A>C (n.-826A>C) | |
5 | g.177211569A>G | CA362322453 | NSD1 | c.2297A>G (p.Asn766Ser) n.612+7277A>G n.2753A>G c.2861A>G (p.Asn954Ser) n.2567A>G c.3170A>G (p.Asn1057Ser) n.3317A>G c.2363A>G (p.Asn788Ser) c.2750A>G (p.Asn917Ser) c.2114A>G (p.Asn705Ser) c.-826A>G (n.-826A>G) | gnomAD v4 |
5 | g.177211569A>T | CA362322457 | NSD1 | c.2297A>T (p.Asn766Ile) n.612+7277A>T n.2753A>T c.2861A>T (p.Asn954Ile) n.2567A>T c.3170A>T (p.Asn1057Ile) n.3317A>T c.2363A>T (p.Asn788Ile) c.2750A>T (p.Asn917Ile) c.2114A>T (p.Asn705Ile) c.-826A>T (n.-826A>T) | |
5 | g.177211570T>A | CA362322461 | NSD1 | c.2298T>A (p.Asn766Lys) n.612+7278T>A n.2754T>A c.2862T>A (p.Asn954Lys) n.2568T>A c.3171T>A (p.Asn1057Lys) n.3318T>A c.2364T>A (p.Asn788Lys) c.2751T>A (p.Asn917Lys) c.2115T>A (p.Asn705Lys) c.-825T>A (n.-825T>A) | |
5 | g.177211570T>C | CA447960701 | NSD1 | c.2298T>C (p.Asn766=) n.612+7278T>C n.2754T>C c.2862T>C (p.Asn954=) n.2568T>C c.3171T>C (p.Asn1057=) n.3318T>C c.2364T>C (p.Asn788=) c.2751T>C (p.Asn917=) c.2115T>C (p.Asn705=) c.-825T>C (n.-825T>C) | ClinVar dbSNP gnomAD v4 |
5 | g.177211570T>G | CA362322462 | NSD1 | c.2298T>G (p.Asn766Lys) n.612+7278T>G n.2754T>G c.2862T>G (p.Asn954Lys) n.2568T>G c.3171T>G (p.Asn1057Lys) n.3318T>G c.2364T>G (p.Asn788Lys) c.2751T>G (p.Asn917Lys) c.2115T>G (p.Asn705Lys) c.-825T>G (n.-825T>G) | |
5 | g.177211570T= | CA1603478258 | NSD1 | c.2298T= (p.Asn766=) n.612+7278T= n.2754T= c.2862T= (p.Asn954=) n.2568T= c.3171T= (p.Asn1057=) n.3318T= c.2364T= (p.Asn788=) c.2751T= (p.Asn917=) c.2115T= (p.Asn705=) c.-825T= (n.-825T=) | |
5 | g.177211571C>A | CA362322463 | NSD1 | c.2299C>A (p.Gln767Lys) n.612+7279C>A n.2755C>A c.2863C>A (p.Gln955Lys) n.2569C>A c.3172C>A (p.Gln1058Lys) n.3319C>A c.2365C>A (p.Gln789Lys) c.2752C>A (p.Gln918Lys) c.2116C>A (p.Gln706Lys) c.-824C>A (n.-824C>A) | |
5 | g.177211571C= | CA1603478265 | NSD1 | c.2299C= (p.Gln767=) n.612+7279C= n.2755C= c.2863C= (p.Gln955=) n.2569C= c.3172C= (p.Gln1058=) n.3319C= c.2365C= (p.Gln789=) c.2752C= (p.Gln918=) c.2116C= (p.Gln706=) c.-824C= (n.-824C=) | |
5 | g.177211571C>G | CA362322466 | NSD1 | c.2299C>G (p.Gln767Glu) n.612+7279C>G n.2755C>G c.2863C>G (p.Gln955Glu) n.2569C>G c.3172C>G (p.Gln1058Glu) n.3319C>G c.2365C>G (p.Gln789Glu) c.2752C>G (p.Gln918Glu) c.2116C>G (p.Gln706Glu) c.-824C>G (n.-824C>G) | |
5 | g.177211571C>T | CA362322468 | NSD1 | c.2299C>T (p.Gln767Ter) n.612+7279C>T n.2755C>T c.2863C>T (p.Gln955Ter) n.2569C>T c.3172C>T (p.Gln1058Ter) n.3319C>T c.2365C>T (p.Gln789Ter) c.2752C>T (p.Gln918Ter) c.2116C>T (p.Gln706Ter) c.-824C>T (n.-824C>T) | ClinVar dbSNP |