Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177211469T>ACA362321849NSD1c.2197T>A (p.Ser733Thr)
n.612+7177T>A
n.2653T>A
c.2761T>A (p.Ser921Thr)
n.2467T>A
c.3070T>A (p.Ser1024Thr)
n.3217T>A
c.2263T>A (p.Ser755Thr)
c.2650T>A (p.Ser884Thr)
c.2014T>A (p.Ser672Thr)
c.-926T>A (n.-926T>A)
dbSNP
5g.177211469T>CCA362321851NSD1c.2197T>C (p.Ser733Pro)
n.612+7177T>C
n.2653T>C
c.2761T>C (p.Ser921Pro)
n.2467T>C
c.3070T>C (p.Ser1024Pro)
n.3217T>C
c.2263T>C (p.Ser755Pro)
c.2650T>C (p.Ser884Pro)
c.2014T>C (p.Ser672Pro)
c.-926T>C (n.-926T>C)
5g.177211469T>GCA362321853NSD1c.2197T>G (p.Ser733Ala)
n.612+7177T>G
n.2653T>G
c.2761T>G (p.Ser921Ala)
n.2467T>G
c.3070T>G (p.Ser1024Ala)
n.3217T>G
c.2263T>G (p.Ser755Ala)
c.2650T>G (p.Ser884Ala)
c.2014T>G (p.Ser672Ala)
c.-926T>G (n.-926T>G)
5g.177211470C>ACA362321856NSD1c.2198C>A (p.Ser733Ter)
n.612+7178C>A
n.2654C>A
c.2762C>A (p.Ser921Ter)
n.2468C>A
c.3071C>A (p.Ser1024Ter)
n.3218C>A
c.2264C>A (p.Ser755Ter)
c.2651C>A (p.Ser884Ter)
c.2015C>A (p.Ser672Ter)
c.-925C>A (n.-925C>A)
dbSNP
5g.177211470C>GCA362321858NSD1c.2198C>G (p.Ser733Ter)
n.612+7178C>G
n.2654C>G
c.2762C>G (p.Ser921Ter)
n.2468C>G
c.3071C>G (p.Ser1024Ter)
n.3218C>G
c.2264C>G (p.Ser755Ter)
c.2651C>G (p.Ser884Ter)
c.2015C>G (p.Ser672Ter)
c.-925C>G (n.-925C>G)
5g.177211470C>TCA362321861NSD1c.2198C>T (p.Ser733Leu)
n.612+7178C>T
n.2654C>T
c.2762C>T (p.Ser921Leu)
n.2468C>T
c.3071C>T (p.Ser1024Leu)
n.3218C>T
c.2264C>T (p.Ser755Leu)
c.2651C>T (p.Ser884Leu)
c.2015C>T (p.Ser672Leu)
c.-925C>T (n.-925C>T)
5g.177211471A>CCA447960811NSD1c.2199A>C (p.Ser733=)
n.612+7179A>C
n.2655A>C
c.2763A>C (p.Ser921=)
n.2469A>C
c.3072A>C (p.Ser1024=)
n.3219A>C
c.2265A>C (p.Ser755=)
c.2652A>C (p.Ser884=)
c.2016A>C (p.Ser672=)
c.-924A>C (n.-924A>C)
5g.177211471A>GCA447960812NSD1c.2199A>G (p.Ser733=)
n.612+7179A>G
n.2655A>G
c.2763A>G (p.Ser921=)
n.2469A>G
c.3072A>G (p.Ser1024=)
n.3219A>G
c.2265A>G (p.Ser755=)
c.2652A>G (p.Ser884=)
c.2016A>G (p.Ser672=)
c.-924A>G (n.-924A>G)
gnomAD v4
5g.177211471A>TCA447960813NSD1c.2199A>T (p.Ser733=)
n.612+7179A>T
n.2655A>T
c.2763A>T (p.Ser921=)
n.2469A>T
c.3072A>T (p.Ser1024=)
n.3219A>T
c.2265A>T (p.Ser755=)
c.2652A>T (p.Ser884=)
c.2016A>T (p.Ser672=)
c.-924A>T (n.-924A>T)
5g.177211472A>CCA362321866NSD1c.2200A>C (p.Lys734Gln)
n.612+7180A>C
n.2656A>C
c.2764A>C (p.Lys922Gln)
n.2470A>C
c.3073A>C (p.Lys1025Gln)
n.3220A>C
c.2266A>C (p.Lys756Gln)
c.2653A>C (p.Lys885Gln)
c.2017A>C (p.Lys673Gln)
c.-923A>C (n.-923A>C)
5g.177211472A>GCA362321867NSD1c.2200A>G (p.Lys734Glu)
n.612+7180A>G
n.2656A>G
c.2764A>G (p.Lys922Glu)
n.2470A>G
c.3073A>G (p.Lys1025Glu)
n.3220A>G
c.2266A>G (p.Lys756Glu)
c.2653A>G (p.Lys885Glu)
c.2017A>G (p.Lys673Glu)
c.-923A>G (n.-923A>G)
5g.177211472A>TCA362321864NSD1c.2200A>T (p.Lys734Ter)
n.612+7180A>T
n.2656A>T
c.2764A>T (p.Lys922Ter)
n.2470A>T
c.3073A>T (p.Lys1025Ter)
n.3220A>T
c.2266A>T (p.Lys756Ter)
c.2653A>T (p.Lys885Ter)
c.2017A>T (p.Lys673Ter)
c.-923A>T (n.-923A>T)
5g.177211473A>CCA362321870NSD1c.2201A>C (p.Lys734Thr)
n.612+7181A>C
n.2657A>C
c.2765A>C (p.Lys922Thr)
n.2471A>C
c.3074A>C (p.Lys1025Thr)
n.3221A>C
c.2267A>C (p.Lys756Thr)
c.2654A>C (p.Lys885Thr)
c.2018A>C (p.Lys673Thr)
c.-922A>C (n.-922A>C)
5g.177211473A>GCA362321872NSD1c.2201A>G (p.Lys734Arg)
n.612+7181A>G
n.2657A>G
c.2765A>G (p.Lys922Arg)
n.2471A>G
c.3074A>G (p.Lys1025Arg)
n.3221A>G
c.2267A>G (p.Lys756Arg)
c.2654A>G (p.Lys885Arg)
c.2018A>G (p.Lys673Arg)
c.-922A>G (n.-922A>G)
5g.177211473A>TCA362321875NSD1c.2201A>T (p.Lys734Met)
n.612+7181A>T
n.2657A>T
c.2765A>T (p.Lys922Met)
n.2471A>T
c.3074A>T (p.Lys1025Met)
n.3221A>T
c.2267A>T (p.Lys756Met)
c.2654A>T (p.Lys885Met)
c.2018A>T (p.Lys673Met)
c.-922A>T (n.-922A>T)
5g.177211474G>ACA447960818NSD1c.2202G>A (p.Lys734=)
n.612+7182G>A
n.2658G>A
c.2766G>A (p.Lys922=)
n.2472G>A
c.3075G>A (p.Lys1025=)
n.3222G>A
c.2268G>A (p.Lys756=)
c.2655G>A (p.Lys885=)
c.2019G>A (p.Lys673=)
c.-921G>A (n.-921G>A)
dbSNP gnomAD v4
5g.177211474G>CCA362321878NSD1c.2202G>C (p.Lys734Asn)
n.612+7182G>C
n.2658G>C
c.2766G>C (p.Lys922Asn)
n.2472G>C
c.3075G>C (p.Lys1025Asn)
n.3222G>C
c.2268G>C (p.Lys756Asn)
c.2655G>C (p.Lys885Asn)
c.2019G>C (p.Lys673Asn)
c.-921G>C (n.-921G>C)
5g.177211474G=CA1603477926NSD1c.2202G= (p.Lys734=)
n.612+7182G=
n.2658G=
c.2766G= (p.Lys922=)
n.2472G=
c.3075G= (p.Lys1025=)
n.3222G=
c.2268G= (p.Lys756=)
c.2655G= (p.Lys885=)
c.2019G= (p.Lys673=)
c.-921G= (n.-921G=)
5g.177211474G>TCA362321880NSD1c.2202G>T (p.Lys734Asn)
n.612+7182G>T
n.2658G>T
c.2766G>T (p.Lys922Asn)
n.2472G>T
c.3075G>T (p.Lys1025Asn)
n.3222G>T
c.2268G>T (p.Lys756Asn)
c.2655G>T (p.Lys885Asn)
c.2019G>T (p.Lys673Asn)
c.-921G>T (n.-921G>T)
5g.177211475C>ACA362321888NSD1c.2203C>A (p.Pro735Thr)
n.612+7183C>A
n.2659C>A
c.2767C>A (p.Pro923Thr)
n.2473C>A
c.3076C>A (p.Pro1026Thr)
n.3223C>A
c.2269C>A (p.Pro757Thr)
c.2656C>A (p.Pro886Thr)
c.2020C>A (p.Pro674Thr)
c.-920C>A (n.-920C>A)
gnomAD v4
5g.177211475C>GCA362321886NSD1c.2203C>G (p.Pro735Ala)
n.612+7183C>G
n.2659C>G
c.2767C>G (p.Pro923Ala)
n.2473C>G
c.3076C>G (p.Pro1026Ala)
n.3223C>G
c.2269C>G (p.Pro757Ala)
c.2656C>G (p.Pro886Ala)
c.2020C>G (p.Pro674Ala)
c.-920C>G (n.-920C>G)
gnomAD v4
5g.177211475C>TCA362321884NSD1c.2203C>T (p.Pro735Ser)
n.612+7183C>T
n.2659C>T
c.2767C>T (p.Pro923Ser)
n.2473C>T
c.3076C>T (p.Pro1026Ser)
n.3223C>T
c.2269C>T (p.Pro757Ser)
c.2656C>T (p.Pro886Ser)
c.2020C>T (p.Pro674Ser)
c.-920C>T (n.-920C>T)
dbSNP gnomAD v4
5g.177211476C>ACA362321891NSD1c.2204C>A (p.Pro735His)
n.612+7184C>A
n.2660C>A
c.2768C>A (p.Pro923His)
n.2474C>A
c.3077C>A (p.Pro1026His)
n.3224C>A
c.2270C>A (p.Pro757His)
c.2657C>A (p.Pro886His)
c.2021C>A (p.Pro674His)
c.-919C>A (n.-919C>A)
5g.177211476C>GCA362321893NSD1c.2204C>G (p.Pro735Arg)
n.612+7184C>G
n.2660C>G
c.2768C>G (p.Pro923Arg)
n.2474C>G
c.3077C>G (p.Pro1026Arg)
n.3224C>G
c.2270C>G (p.Pro757Arg)
c.2657C>G (p.Pro886Arg)
c.2021C>G (p.Pro674Arg)
c.-919C>G (n.-919C>G)
5g.177211476C>TCA362321894NSD1c.2204C>T (p.Pro735Leu)
n.612+7184C>T
n.2660C>T
c.2768C>T (p.Pro923Leu)
n.2474C>T
c.3077C>T (p.Pro1026Leu)
n.3224C>T
c.2270C>T (p.Pro757Leu)
c.2657C>T (p.Pro886Leu)
c.2021C>T (p.Pro674Leu)
c.-919C>T (n.-919C>T)
5g.177211477_177211479delCA2578494650NSD1c.2205_2207del (p.Ser736del)
n.612+7185_612+7187del
n.2661_2663del
c.2769_2771del (p.Ser924del)
n.2475_2477del
c.3078_3080del (p.Ser1027del)
n.3225_3227del
c.2271_2273del (p.Ser758del)
c.2658_2660del (p.Ser887del)
c.2022_2024del (p.Ser675del)
c.-918_-916del (n.-918_-916del)
5g.177211477T>ACA447960821NSD1c.2205T>A (p.Pro735=)
n.612+7185T>A
n.2661T>A
c.2769T>A (p.Pro923=)
n.2475T>A
c.3078T>A (p.Pro1026=)
n.3225T>A
c.2271T>A (p.Pro757=)
c.2658T>A (p.Pro886=)
c.2022T>A (p.Pro674=)
c.-918T>A (n.-918T>A)
dbSNP
5g.177211477T>CCA447960822NSD1c.2205T>C (p.Pro735=)
n.612+7185T>C
n.2661T>C
c.2769T>C (p.Pro923=)
n.2475T>C
c.3078T>C (p.Pro1026=)
n.3225T>C
c.2271T>C (p.Pro757=)
c.2658T>C (p.Pro886=)
c.2022T>C (p.Pro674=)
c.-918T>C (n.-918T>C)
5g.177211477T>GCA447960823NSD1c.2205T>G (p.Pro735=)
n.612+7185T>G
n.2661T>G
c.2769T>G (p.Pro923=)
n.2475T>G
c.3078T>G (p.Pro1026=)
n.3225T>G
c.2271T>G (p.Pro757=)
c.2658T>G (p.Pro886=)
c.2022T>G (p.Pro674=)
c.-918T>G (n.-918T>G)
5g.177211478T>ACA362321898NSD1c.2206T>A (p.Ser736Thr)
n.612+7186T>A
n.2662T>A
c.2770T>A (p.Ser924Thr)
n.2476T>A
c.3079T>A (p.Ser1027Thr)
n.3226T>A
c.2272T>A (p.Ser758Thr)
c.2659T>A (p.Ser887Thr)
c.2023T>A (p.Ser675Thr)
c.-917T>A (n.-917T>A)
5g.177211478T>CCA362321899NSD1c.2206T>C (p.Ser736Pro)
n.612+7186T>C
n.2662T>C
c.2770T>C (p.Ser924Pro)
n.2476T>C
c.3079T>C (p.Ser1027Pro)
n.3226T>C
c.2272T>C (p.Ser758Pro)
c.2659T>C (p.Ser887Pro)
c.2023T>C (p.Ser675Pro)
c.-917T>C (n.-917T>C)
5g.177211478T>GCA3577372NSD1c.2206T>G (p.Ser736Ala)
n.612+7186T>G
n.2662T>G
c.2770T>G (p.Ser924Ala)
n.2476T>G
c.3079T>G (p.Ser1027Ala)
n.3226T>G
c.2272T>G (p.Ser758Ala)
c.2659T>G (p.Ser887Ala)
c.2023T>G (p.Ser675Ala)
c.-917T>G (n.-917T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211478T=CA1603477931NSD1c.2206T= (p.Ser736=)
n.612+7186T=
n.2662T=
c.2770T= (p.Ser924=)
n.2476T=
c.3079T= (p.Ser1027=)
n.3226T=
c.2272T= (p.Ser758=)
c.2659T= (p.Ser887=)
c.2023T= (p.Ser675=)
c.-917T= (n.-917T=)
5g.177211479C>ACA362321907NSD1c.2207C>A (p.Ser736Ter)
n.612+7187C>A
n.2663C>A
c.2771C>A (p.Ser924Ter)
n.2477C>A
c.3080C>A (p.Ser1027Ter)
n.3227C>A
c.2273C>A (p.Ser758Ter)
c.2660C>A (p.Ser887Ter)
c.2024C>A (p.Ser675Ter)
c.-916C>A (n.-916C>A)
5g.177211479C>GCA362321905NSD1c.2207C>G (p.Ser736Ter)
n.612+7187C>G
n.2663C>G
c.2771C>G (p.Ser924Ter)
n.2477C>G
c.3080C>G (p.Ser1027Ter)
n.3227C>G
c.2273C>G (p.Ser758Ter)
c.2660C>G (p.Ser887Ter)
c.2024C>G (p.Ser675Ter)
c.-916C>G (n.-916C>G)
dbSNP
5g.177211479C>TCA362321903NSD1c.2207C>T (p.Ser736Leu)
n.612+7187C>T
n.2663C>T
c.2771C>T (p.Ser924Leu)
n.2477C>T
c.3080C>T (p.Ser1027Leu)
n.3227C>T
c.2273C>T (p.Ser758Leu)
c.2660C>T (p.Ser887Leu)
c.2024C>T (p.Ser675Leu)
c.-916C>T (n.-916C>T)
5g.177211480A=CA1603477937NSD1c.2208A= (p.Ser736=)
n.612+7188A=
n.2664A=
c.2772A= (p.Ser924=)
n.2478A=
c.3081A= (p.Ser1027=)
n.3228A=
c.2274A= (p.Ser758=)
c.2661A= (p.Ser887=)
c.2025A= (p.Ser675=)
c.-915A= (n.-915A=)
5g.177211480A>CCA447960829NSD1c.2208A>C (p.Ser736=)
n.612+7188A>C
n.2664A>C
c.2772A>C (p.Ser924=)
n.2478A>C
c.3081A>C (p.Ser1027=)
n.3228A>C
c.2274A>C (p.Ser758=)
c.2661A>C (p.Ser887=)
c.2025A>C (p.Ser675=)
c.-915A>C (n.-915A>C)
5g.177211480A>GCA447960831NSD1c.2208A>G (p.Ser736=)
n.612+7188A>G
n.2664A>G
c.2772A>G (p.Ser924=)
n.2478A>G
c.3081A>G (p.Ser1027=)
n.3228A>G
c.2274A>G (p.Ser758=)
c.2661A>G (p.Ser887=)
c.2025A>G (p.Ser675=)
c.-915A>G (n.-915A>G)
dbSNP gnomAD v4
5g.177211480A>TCA447960832NSD1c.2208A>T (p.Ser736=)
n.612+7188A>T
n.2664A>T
c.2772A>T (p.Ser924=)
n.2478A>T
c.3081A>T (p.Ser1027=)
n.3228A>T
c.2274A>T (p.Ser758=)
c.2661A>T (p.Ser887=)
c.2025A>T (p.Ser675=)
c.-915A>T (n.-915A>T)
dbSNP gnomAD v3 gnomAD v4
5g.177211481T>ACA362321911NSD1c.2209T>A (p.Ser737Thr)
n.612+7189T>A
n.2665T>A
c.2773T>A (p.Ser925Thr)
n.2479T>A
c.3082T>A (p.Ser1028Thr)
n.3229T>A
c.2275T>A (p.Ser759Thr)
c.2662T>A (p.Ser888Thr)
c.2026T>A (p.Ser676Thr)
c.-914T>A (n.-914T>A)
5g.177211481T>CCA362321915NSD1c.2209T>C (p.Ser737Pro)
n.612+7189T>C
n.2665T>C
c.2773T>C (p.Ser925Pro)
n.2479T>C
c.3082T>C (p.Ser1028Pro)
n.3229T>C
c.2275T>C (p.Ser759Pro)
c.2662T>C (p.Ser888Pro)
c.2026T>C (p.Ser676Pro)
c.-914T>C (n.-914T>C)
5g.177211481T>GCA362321913NSD1c.2209T>G (p.Ser737Ala)
n.612+7189T>G
n.2665T>G
c.2773T>G (p.Ser925Ala)
n.2479T>G
c.3082T>G (p.Ser1028Ala)
n.3229T>G
c.2275T>G (p.Ser759Ala)
c.2662T>G (p.Ser888Ala)
c.2026T>G (p.Ser676Ala)
c.-914T>G (n.-914T>G)
5g.177211482C>ACA362321918NSD1c.2210C>A (p.Ser737Tyr)
n.612+7190C>A
n.2666C>A
c.2774C>A (p.Ser925Tyr)
n.2480C>A
c.3083C>A (p.Ser1028Tyr)
n.3230C>A
c.2276C>A (p.Ser759Tyr)
c.2663C>A (p.Ser888Tyr)
c.2027C>A (p.Ser676Tyr)
c.-913C>A (n.-913C>A)
dbSNP
5g.177211482C>GCA362321922NSD1c.2210C>G (p.Ser737Cys)
n.612+7190C>G
n.2666C>G
c.2774C>G (p.Ser925Cys)
n.2480C>G
c.3083C>G (p.Ser1028Cys)
n.3230C>G
c.2276C>G (p.Ser759Cys)
c.2663C>G (p.Ser888Cys)
c.2027C>G (p.Ser676Cys)
c.-913C>G (n.-913C>G)
dbSNP
5g.177211482C>TCA362321920NSD1c.2210C>T (p.Ser737Phe)
n.612+7190C>T
n.2666C>T
c.2774C>T (p.Ser925Phe)
n.2480C>T
c.3083C>T (p.Ser1028Phe)
n.3230C>T
c.2276C>T (p.Ser759Phe)
c.2663C>T (p.Ser888Phe)
c.2027C>T (p.Ser676Phe)
c.-913C>T (n.-913C>T)
5g.177211483C>ACA447960838NSD1c.2211C>A (p.Ser737=)
n.612+7191C>A
n.2667C>A
c.2775C>A (p.Ser925=)
n.2481C>A
c.3084C>A (p.Ser1028=)
n.3231C>A
c.2277C>A (p.Ser759=)
c.2664C>A (p.Ser888=)
c.2028C>A (p.Ser676=)
c.-912C>A (n.-912C>A)
dbSNP
5g.177211483C>GCA447960834NSD1c.2211C>G (p.Ser737=)
n.612+7191C>G
n.2667C>G
c.2775C>G (p.Ser925=)
n.2481C>G
c.3084C>G (p.Ser1028=)
n.3231C>G
c.2277C>G (p.Ser759=)
c.2664C>G (p.Ser888=)
c.2028C>G (p.Ser676=)
c.-912C>G (n.-912C>G)
5g.177211483C>TCA447960837NSD1c.2211C>T (p.Ser737=)
n.612+7191C>T
n.2667C>T
c.2775C>T (p.Ser925=)
n.2481C>T
c.3084C>T (p.Ser1028=)
n.3231C>T
c.2277C>T (p.Ser759=)
c.2664C>T (p.Ser888=)
c.2028C>T (p.Ser676=)
c.-912C>T (n.-912C>T)
5g.177211484A>CCA362321924NSD1c.2212A>C (p.Lys738Gln)
n.612+7192A>C
n.2668A>C
c.2776A>C (p.Lys926Gln)
n.2482A>C
c.3085A>C (p.Lys1029Gln)
n.3232A>C
c.2278A>C (p.Lys760Gln)
c.2665A>C (p.Lys889Gln)
c.2029A>C (p.Lys677Gln)
c.-911A>C (n.-911A>C)
gnomAD v4
5g.177211484A>GCA362321926NSD1c.2212A>G (p.Lys738Glu)
n.612+7192A>G
n.2668A>G
c.2776A>G (p.Lys926Glu)
n.2482A>G
c.3085A>G (p.Lys1029Glu)
n.3232A>G
c.2278A>G (p.Lys760Glu)
c.2665A>G (p.Lys889Glu)
c.2029A>G (p.Lys677Glu)
c.-911A>G (n.-911A>G)
5g.177211484A>TCA362321928NSD1c.2212A>T (p.Lys738Ter)
n.612+7192A>T
n.2668A>T
c.2776A>T (p.Lys926Ter)
n.2482A>T
c.3085A>T (p.Lys1029Ter)
n.3232A>T
c.2278A>T (p.Lys760Ter)
c.2665A>T (p.Lys889Ter)
c.2029A>T (p.Lys677Ter)
c.-911A>T (n.-911A>T)
5g.177211485A>CCA362321930NSD1c.2213A>C (p.Lys738Thr)
n.612+7193A>C
n.2669A>C
c.2777A>C (p.Lys926Thr)
n.2483A>C
c.3086A>C (p.Lys1029Thr)
n.3233A>C
c.2279A>C (p.Lys760Thr)
c.2666A>C (p.Lys889Thr)
c.2030A>C (p.Lys677Thr)
c.-910A>C (n.-910A>C)
5g.177211485A>GCA362321931NSD1c.2213A>G (p.Lys738Arg)
n.612+7193A>G
n.2669A>G
c.2777A>G (p.Lys926Arg)
n.2483A>G
c.3086A>G (p.Lys1029Arg)
n.3233A>G
c.2279A>G (p.Lys760Arg)
c.2666A>G (p.Lys889Arg)
c.2030A>G (p.Lys677Arg)
c.-910A>G (n.-910A>G)
5g.177211485A>TCA362321933NSD1c.2213A>T (p.Lys738Ile)
n.612+7193A>T
n.2669A>T
c.2777A>T (p.Lys926Ile)
n.2483A>T
c.3086A>T (p.Lys1029Ile)
n.3233A>T
c.2279A>T (p.Lys760Ile)
c.2666A>T (p.Lys889Ile)
c.2030A>T (p.Lys677Ile)
c.-910A>T (n.-910A>T)
5g.177211486A=CA1603477941NSD1c.2214A= (p.Lys738=)
n.612+7194A=
n.2670A=
c.2778A= (p.Lys926=)
n.2484A=
c.3087A= (p.Lys1029=)
n.3234A=
c.2280A= (p.Lys760=)
c.2667A= (p.Lys889=)
c.2031A= (p.Lys677=)
c.-909A= (n.-909A=)
5g.177211486A>CCA362321936NSD1c.2214A>C (p.Lys738Asn)
n.612+7194A>C
n.2670A>C
c.2778A>C (p.Lys926Asn)
n.2484A>C
c.3087A>C (p.Lys1029Asn)
n.3234A>C
c.2280A>C (p.Lys760Asn)
c.2667A>C (p.Lys889Asn)
c.2031A>C (p.Lys677Asn)
c.-909A>C (n.-909A>C)
dbSNP gnomAD v2 gnomAD v4
5g.177211486A>GCA447960841NSD1c.2214A>G (p.Lys738=)
n.612+7194A>G
n.2670A>G
c.2778A>G (p.Lys926=)
n.2484A>G
c.3087A>G (p.Lys1029=)
n.3234A>G
c.2280A>G (p.Lys760=)
c.2667A>G (p.Lys889=)
c.2031A>G (p.Lys677=)
c.-909A>G (n.-909A>G)
5g.177211486A>TCA362321938NSD1c.2214A>T (p.Lys738Asn)
n.612+7194A>T
n.2670A>T
c.2778A>T (p.Lys926Asn)
n.2484A>T
c.3087A>T (p.Lys1029Asn)
n.3234A>T
c.2280A>T (p.Lys760Asn)
c.2667A>T (p.Lys889Asn)
c.2031A>T (p.Lys677Asn)
c.-909A>T (n.-909A>T)
5g.177211487T>ACA362321942NSD1c.2215T>A (p.Leu739Met)
n.612+7195T>A
n.2671T>A
c.2779T>A (p.Leu927Met)
n.2485T>A
c.3088T>A (p.Leu1030Met)
n.3235T>A
c.2281T>A (p.Leu761Met)
c.2668T>A (p.Leu890Met)
c.2032T>A (p.Leu678Met)
c.-908T>A (n.-908T>A)
5g.177211487T>CCA223664NSD1c.2215T>C (p.Leu739=)
n.612+7195T>C
n.2671T>C
c.2779T>C (p.Leu927=)
n.2485T>C
c.3088T>C (p.Leu1030=)
n.3235T>C
c.2281T>C (p.Leu761=)
c.2668T>C (p.Leu890=)
c.2032T>C (p.Leu678=)
c.-908T>C (n.-908T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211487T>GCA362321945NSD1c.2215T>G (p.Leu739Val)
n.612+7195T>G
n.2671T>G
c.2779T>G (p.Leu927Val)
n.2485T>G
c.3088T>G (p.Leu1030Val)
n.3235T>G
c.2281T>G (p.Leu761Val)
c.2668T>G (p.Leu890Val)
c.2032T>G (p.Leu678Val)
c.-908T>G (n.-908T>G)
5g.177211487T=CA1603477945NSD1c.2215T= (p.Leu739=)
n.612+7195T=
n.2671T=
c.2779T= (p.Leu927=)
n.2485T=
c.3088T= (p.Leu1030=)
n.3235T=
c.2281T= (p.Leu761=)
c.2668T= (p.Leu890=)
c.2032T= (p.Leu678=)
c.-908T= (n.-908T=)
5g.177211488T>ACA362321949NSD1c.2216T>A (p.Leu739Ter)
n.612+7196T>A
n.2672T>A
c.2780T>A (p.Leu927Ter)
n.2486T>A
c.3089T>A (p.Leu1030Ter)
n.3236T>A
c.2282T>A (p.Leu761Ter)
c.2669T>A (p.Leu890Ter)
c.2033T>A (p.Leu678Ter)
c.-907T>A (n.-907T>A)
5g.177211488T>CCA172795NSD1c.2216T>C (p.Leu739Ser)
n.612+7196T>C
n.2672T>C
c.2780T>C (p.Leu927Ser)
n.2486T>C
c.3089T>C (p.Leu1030Ser)
n.3236T>C
c.2282T>C (p.Leu761Ser)
c.2669T>C (p.Leu890Ser)
c.2033T>C (p.Leu678Ser)
c.-907T>C (n.-907T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211488T>GCA362321947NSD1c.2216T>G (p.Leu739Trp)
n.612+7196T>G
n.2672T>G
c.2780T>G (p.Leu927Trp)
n.2486T>G
c.3089T>G (p.Leu1030Trp)
n.3236T>G
c.2282T>G (p.Leu761Trp)
c.2669T>G (p.Leu890Trp)
c.2033T>G (p.Leu678Trp)
c.-907T>G (n.-907T>G)
5g.177211488T=CA1603477950NSD1c.2216T= (p.Leu739=)
n.612+7196T=
n.2672T=
c.2780T= (p.Leu927=)
n.2486T=
c.3089T= (p.Leu1030=)
n.3236T=
c.2282T= (p.Leu761=)
c.2669T= (p.Leu890=)
c.2033T= (p.Leu678=)
c.-907T= (n.-907T=)
5g.177211488_177211489delinsCTCA2580074127NSD1c.2216_2217delinsCT (p.Leu739Ser)
n.612+7196_612+7197delinsCT
n.2672_2673delinsCT
c.2780_2781delinsCT (p.Leu927Ser)
n.2486_2487delinsCT
c.3089_3090delinsCT (p.Leu1030Ser)
n.3236_3237delinsCT
c.2282_2283delinsCT (p.Leu761Ser)
c.2669_2670delinsCT (p.Leu890Ser)
c.2033_2034delinsCT (p.Leu678Ser)
c.-907_-906delinsCT (n.-907_-906delinsCT)
ClinVar
5g.177211489G>ACA132830985NSD1c.2217G>A (p.Leu739=)
n.612+7197G>A
n.2673G>A
c.2781G>A (p.Leu927=)
n.2487G>A
c.3090G>A (p.Leu1030=)
n.3237G>A
c.2283G>A (p.Leu761=)
c.2670G>A (p.Leu890=)
c.2034G>A (p.Leu678=)
c.-906G>A (n.-906G>A)
dbSNP
5g.177211489G>CCA362321955NSD1c.2217G>C (p.Leu739Phe)
n.612+7197G>C
n.2673G>C
c.2781G>C (p.Leu927Phe)
n.2487G>C
c.3090G>C (p.Leu1030Phe)
n.3237G>C
c.2283G>C (p.Leu761Phe)
c.2670G>C (p.Leu890Phe)
c.2034G>C (p.Leu678Phe)
c.-906G>C (n.-906G>C)
dbSNP
5g.177211489G=CA1603477953NSD1c.2217G= (p.Leu739=)
n.612+7197G=
n.2673G=
c.2781G= (p.Leu927=)
n.2487G=
c.3090G= (p.Leu1030=)
n.3237G=
c.2283G= (p.Leu761=)
c.2670G= (p.Leu890=)
c.2034G= (p.Leu678=)
c.-906G= (n.-906G=)
5g.177211489G>TCA3577373NSD1c.2217G>T (p.Leu739Phe)
n.612+7197G>T
n.2673G>T
c.2781G>T (p.Leu927Phe)
n.2487G>T
c.3090G>T (p.Leu1030Phe)
n.3237G>T
c.2283G>T (p.Leu761Phe)
c.2670G>T (p.Leu890Phe)
c.2034G>T (p.Leu678Phe)
c.-906G>T (n.-906G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211490C>ACA447960849NSD1c.2218C>A (p.Arg740=)
n.612+7198C>A
n.2674C>A
c.2782C>A (p.Arg928=)
n.2488C>A
c.3091C>A (p.Arg1031=)
n.3238C>A
c.2284C>A (p.Arg762=)
c.2671C>A (p.Arg891=)
c.2035C>A (p.Arg679=)
c.-905C>A (n.-905C>A)
5g.177211490C=CA1603477969NSD1c.2218C= (p.Arg740=)
n.612+7198C=
n.2674C=
c.2782C= (p.Arg928=)
n.2488C=
c.3091C= (p.Arg1031=)
n.3238C=
c.2284C= (p.Arg762=)
c.2671C= (p.Arg891=)
c.2035C= (p.Arg679=)
c.-905C= (n.-905C=)
5g.177211490C>GCA362321958NSD1c.2218C>G (p.Arg740Gly)
n.612+7198C>G
n.2674C>G
c.2782C>G (p.Arg928Gly)
n.2488C>G
c.3091C>G (p.Arg1031Gly)
n.3238C>G
c.2284C>G (p.Arg762Gly)
c.2671C>G (p.Arg891Gly)
c.2035C>G (p.Arg679Gly)
c.-905C>G (n.-905C>G)
dbSNP
5g.177211490C>TCA294842NSD1c.2218C>T (p.Arg740Ter)
n.612+7198C>T
n.2674C>T
c.2782C>T (p.Arg928Ter)
n.2488C>T
c.3091C>T (p.Arg1031Ter)
n.3238C>T
c.2284C>T (p.Arg762Ter)
c.2671C>T (p.Arg891Ter)
c.2035C>T (p.Arg679Ter)
c.-905C>T (n.-905C>T)
ClinVar dbSNP COSMIC COSMIC
5g.177211491G>ACA3577374NSD1c.2219G>A (p.Arg740Gln)
n.612+7199G>A
n.2675G>A
c.2783G>A (p.Arg928Gln)
n.2489G>A
c.3092G>A (p.Arg1031Gln)
n.3239G>A
c.2285G>A (p.Arg762Gln)
c.2672G>A (p.Arg891Gln)
c.2036G>A (p.Arg679Gln)
c.-904G>A (n.-904G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177211491G>CCA362321964NSD1c.2219G>C (p.Arg740Pro)
n.612+7199G>C
n.2675G>C
c.2783G>C (p.Arg928Pro)
n.2489G>C
c.3092G>C (p.Arg1031Pro)
n.3239G>C
c.2285G>C (p.Arg762Pro)
c.2672G>C (p.Arg891Pro)
c.2036G>C (p.Arg679Pro)
c.-904G>C (n.-904G>C)
gnomAD v4
5g.177211491G=CA1603477971NSD1c.2219G= (p.Arg740=)
n.612+7199G=
n.2675G=
c.2783G= (p.Arg928=)
n.2489G=
c.3092G= (p.Arg1031=)
n.3239G=
c.2285G= (p.Arg762=)
c.2672G= (p.Arg891=)
c.2036G= (p.Arg679=)
c.-904G= (n.-904G=)
5g.177211491G>TCA362321966NSD1c.2219G>T (p.Arg740Leu)
n.612+7199G>T
n.2675G>T
c.2783G>T (p.Arg928Leu)
n.2489G>T
c.3092G>T (p.Arg1031Leu)
n.3239G>T
c.2285G>T (p.Arg762Leu)
c.2672G>T (p.Arg891Leu)
c.2036G>T (p.Arg679Leu)
c.-904G>T (n.-904G>T)
5g.177211492A>CCA447960852NSD1c.2220A>C (p.Arg740=)
n.612+7200A>C
n.2676A>C
c.2784A>C (p.Arg928=)
n.2490A>C
c.3093A>C (p.Arg1031=)
n.3240A>C
c.2286A>C (p.Arg762=)
c.2673A>C (p.Arg891=)
c.2037A>C (p.Arg679=)
c.-903A>C (n.-903A>C)
5g.177211492A>GCA447960853NSD1c.2220A>G (p.Arg740=)
n.612+7200A>G
n.2676A>G
c.2784A>G (p.Arg928=)
n.2490A>G
c.3093A>G (p.Arg1031=)
n.3240A>G
c.2286A>G (p.Arg762=)
c.2673A>G (p.Arg891=)
c.2037A>G (p.Arg679=)
c.-903A>G (n.-903A>G)
5g.177211492A>TCA447960854NSD1c.2220A>T (p.Arg740=)
n.612+7200A>T
n.2676A>T
c.2784A>T (p.Arg928=)
n.2490A>T
c.3093A>T (p.Arg1031=)
n.3240A>T
c.2286A>T (p.Arg762=)
c.2673A>T (p.Arg891=)
c.2037A>T (p.Arg679=)
c.-903A>T (n.-903A>T)
5g.177211493G>ACA362321969NSD1c.2221G>A (p.Asp741Asn)
n.612+7201G>A
n.2677G>A
c.2785G>A (p.Asp929Asn)
n.2491G>A
c.3094G>A (p.Asp1032Asn)
n.3241G>A
c.2287G>A (p.Asp763Asn)
c.2674G>A (p.Asp892Asn)
c.2038G>A (p.Asp680Asn)
c.-902G>A (n.-902G>A)
dbSNP
5g.177211493G>CCA362321971NSD1c.2221G>C (p.Asp741His)
n.612+7201G>C
n.2677G>C
c.2785G>C (p.Asp929His)
n.2491G>C
c.3094G>C (p.Asp1032His)
n.3241G>C
c.2287G>C (p.Asp763His)
c.2674G>C (p.Asp892His)
c.2038G>C (p.Asp680His)
c.-902G>C (n.-902G>C)
5g.177211493G=CA1603477975NSD1c.2221G= (p.Asp741=)
n.612+7201G=
n.2677G=
c.2785G= (p.Asp929=)
n.2491G=
c.3094G= (p.Asp1032=)
n.3241G=
c.2287G= (p.Asp763=)
c.2674G= (p.Asp892=)
c.2038G= (p.Asp680=)
c.-902G= (n.-902G=)
5g.177211493G>TCA362321974NSD1c.2221G>T (p.Asp741Tyr)
n.612+7201G>T
n.2677G>T
c.2785G>T (p.Asp929Tyr)
n.2491G>T
c.3094G>T (p.Asp1032Tyr)
n.3241G>T
c.2287G>T (p.Asp763Tyr)
c.2674G>T (p.Asp892Tyr)
c.2038G>T (p.Asp680Tyr)
c.-902G>T (n.-902G>T)
5g.177211494A>CCA362321981NSD1c.2222A>C (p.Asp741Ala)
n.612+7202A>C
n.2678A>C
c.2786A>C (p.Asp929Ala)
n.2492A>C
c.3095A>C (p.Asp1032Ala)
n.3242A>C
c.2288A>C (p.Asp763Ala)
c.2675A>C (p.Asp892Ala)
c.2039A>C (p.Asp680Ala)
c.-901A>C (n.-901A>C)
5g.177211494A>GCA362321979NSD1c.2222A>G (p.Asp741Gly)
n.612+7202A>G
n.2678A>G
c.2786A>G (p.Asp929Gly)
n.2492A>G
c.3095A>G (p.Asp1032Gly)
n.3242A>G
c.2288A>G (p.Asp763Gly)
c.2675A>G (p.Asp892Gly)
c.2039A>G (p.Asp680Gly)
c.-901A>G (n.-901A>G)
dbSNP gnomAD v4
5g.177211494A>TCA362321977NSD1c.2222A>T (p.Asp741Val)
n.612+7202A>T
n.2678A>T
c.2786A>T (p.Asp929Val)
n.2492A>T
c.3095A>T (p.Asp1032Val)
n.3242A>T
c.2288A>T (p.Asp763Val)
c.2675A>T (p.Asp892Val)
c.2039A>T (p.Asp680Val)
c.-901A>T (n.-901A>T)
dbSNP
5g.177211495T>ACA362321983NSD1c.2223T>A (p.Asp741Glu)
n.612+7203T>A
n.2679T>A
c.2787T>A (p.Asp929Glu)
n.2493T>A
c.3096T>A (p.Asp1032Glu)
n.3243T>A
c.2289T>A (p.Asp763Glu)
c.2676T>A (p.Asp892Glu)
c.2040T>A (p.Asp680Glu)
c.-900T>A (n.-900T>A)
5g.177211495T>CCA447960859NSD1c.2223T>C (p.Asp741=)
n.612+7203T>C
n.2679T>C
c.2787T>C (p.Asp929=)
n.2493T>C
c.3096T>C (p.Asp1032=)
n.3243T>C
c.2289T>C (p.Asp763=)
c.2676T>C (p.Asp892=)
c.2040T>C (p.Asp680=)
c.-900T>C (n.-900T>C)
5g.177211495T>GCA362321985NSD1c.2223T>G (p.Asp741Glu)
n.612+7203T>G
n.2679T>G
c.2787T>G (p.Asp929Glu)
n.2493T>G
c.3096T>G (p.Asp1032Glu)
n.3243T>G
c.2289T>G (p.Asp763Glu)
c.2676T>G (p.Asp892Glu)
c.2040T>G (p.Asp680Glu)
c.-900T>G (n.-900T>G)
5g.177211496G>ACA362321987NSD1c.2224G>A (p.Ala742Thr)
n.612+7204G>A
n.2680G>A
c.2788G>A (p.Ala930Thr)
n.2494G>A
c.3097G>A (p.Ala1033Thr)
n.3244G>A
c.2290G>A (p.Ala764Thr)
c.2677G>A (p.Ala893Thr)
c.2041G>A (p.Ala681Thr)
c.-899G>A (n.-899G>A)
gnomAD v4 COSMIC COSMIC
5g.177211496G>CCA362321989NSD1c.2224G>C (p.Ala742Pro)
n.612+7204G>C
n.2680G>C
c.2788G>C (p.Ala930Pro)
n.2494G>C
c.3097G>C (p.Ala1033Pro)
n.3244G>C
c.2290G>C (p.Ala764Pro)
c.2677G>C (p.Ala893Pro)
c.2041G>C (p.Ala681Pro)
c.-899G>C (n.-899G>C)
5g.177211496G>TCA362321991NSD1c.2224G>T (p.Ala742Ser)
n.612+7204G>T
n.2680G>T
c.2788G>T (p.Ala930Ser)
n.2494G>T
c.3097G>T (p.Ala1033Ser)
n.3244G>T
c.2290G>T (p.Ala764Ser)
c.2677G>T (p.Ala893Ser)
c.2041G>T (p.Ala681Ser)
c.-899G>T (n.-899G>T)
5g.177211497C>ACA362321995NSD1c.2225C>A (p.Ala742Asp)
n.612+7205C>A
n.2681C>A
c.2789C>A (p.Ala930Asp)
n.2495C>A
c.3098C>A (p.Ala1033Asp)
n.3245C>A
c.2291C>A (p.Ala764Asp)
c.2678C>A (p.Ala893Asp)
c.2042C>A (p.Ala681Asp)
c.-898C>A (n.-898C>A)
5g.177211497C=CA1603477983NSD1c.2225C= (p.Ala742=)
n.612+7205C=
n.2681C=
c.2789C= (p.Ala930=)
n.2495C=
c.3098C= (p.Ala1033=)
n.3245C=
c.2291C= (p.Ala764=)
c.2678C= (p.Ala893=)
c.2042C= (p.Ala681=)
c.-898C= (n.-898C=)
5g.177211497C>GCA362321997NSD1c.2225C>G (p.Ala742Gly)
n.612+7205C>G
n.2681C>G
c.2789C>G (p.Ala930Gly)
n.2495C>G
c.3098C>G (p.Ala1033Gly)
n.3245C>G
c.2291C>G (p.Ala764Gly)
c.2678C>G (p.Ala893Gly)
c.2042C>G (p.Ala681Gly)
c.-898C>G (n.-898C>G)
gnomAD v4
5g.177211497C>TCA3577375NSD1c.2225C>T (p.Ala742Val)
n.612+7205C>T
n.2681C>T
c.2789C>T (p.Ala930Val)
n.2495C>T
c.3098C>T (p.Ala1033Val)
n.3245C>T
c.2291C>T (p.Ala764Val)
c.2678C>T (p.Ala893Val)
c.2042C>T (p.Ala681Val)
c.-898C>T (n.-898C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211498T>ACA447960865NSD1c.2226T>A (p.Ala742=)
n.612+7206T>A
n.2682T>A
c.2790T>A (p.Ala930=)
n.2496T>A
c.3099T>A (p.Ala1033=)
n.3246T>A
c.2292T>A (p.Ala764=)
c.2679T>A (p.Ala893=)
c.2043T>A (p.Ala681=)
c.-897T>A (n.-897T>A)
5g.177211498T>CCA3577376NSD1c.2226T>C (p.Ala742=)
n.612+7206T>C
n.2682T>C
c.2790T>C (p.Ala930=)
n.2496T>C
c.3099T>C (p.Ala1033=)
n.3246T>C
c.2292T>C (p.Ala764=)
c.2679T>C (p.Ala893=)
c.2043T>C (p.Ala681=)
c.-897T>C (n.-897T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211498T>GCA447960867NSD1c.2226T>G (p.Ala742=)
n.612+7206T>G
n.2682T>G
c.2790T>G (p.Ala930=)
n.2496T>G
c.3099T>G (p.Ala1033=)
n.3246T>G
c.2292T>G (p.Ala764=)
c.2679T>G (p.Ala893=)
c.2043T>G (p.Ala681=)
c.-897T>G (n.-897T>G)
gnomAD v4
5g.177211498T=CA1603477988NSD1c.2226T= (p.Ala742=)
n.612+7206T=
n.2682T=
c.2790T= (p.Ala930=)
n.2496T=
c.3099T= (p.Ala1033=)
n.3246T=
c.2292T= (p.Ala764=)
c.2679T= (p.Ala893=)
c.2043T= (p.Ala681=)
c.-897T= (n.-897T=)
5g.177211502delCA2711100344NSD1c.2230del (p.Ser744GlnfsTer5)
n.612+7210del
n.2686del
c.2794del (p.Ser932GlnfsTer5)
n.2500del
c.3103del (p.Ser1035GlnfsTer5)
n.3250del
c.2296del (p.Ser766GlnfsTer5)
c.2683del (p.Ser895GlnfsTer5)
c.2047del (p.Ser683GlnfsTer5)
c.-893del (n.-893del)
dbSNP
5g.177211499T>ACA362322003NSD1c.2227T>A (p.Phe743Ile)
n.612+7207T>A
n.2683T>A
c.2791T>A (p.Phe931Ile)
n.2497T>A
c.3100T>A (p.Phe1034Ile)
n.3247T>A
c.2293T>A (p.Phe765Ile)
c.2680T>A (p.Phe894Ile)
c.2044T>A (p.Phe682Ile)
c.-896T>A (n.-896T>A)
5g.177211499T>CCA362322005NSD1c.2227T>C (p.Phe743Leu)
n.612+7207T>C
n.2683T>C
c.2791T>C (p.Phe931Leu)
n.2497T>C
c.3100T>C (p.Phe1034Leu)
n.3247T>C
c.2293T>C (p.Phe765Leu)
c.2680T>C (p.Phe894Leu)
c.2044T>C (p.Phe682Leu)
c.-896T>C (n.-896T>C)
5g.177211499T>GCA362322007NSD1c.2227T>G (p.Phe743Val)
n.612+7207T>G
n.2683T>G
c.2791T>G (p.Phe931Val)
n.2497T>G
c.3100T>G (p.Phe1034Val)
n.3247T>G
c.2293T>G (p.Phe765Val)
c.2680T>G (p.Phe894Val)
c.2044T>G (p.Phe682Val)
c.-896T>G (n.-896T>G)
COSMIC COSMIC
5g.177211500T>ACA362322014NSD1c.2228T>A (p.Phe743Tyr)
n.612+7208T>A
n.2684T>A
c.2792T>A (p.Phe931Tyr)
n.2498T>A
c.3101T>A (p.Phe1034Tyr)
n.3248T>A
c.2294T>A (p.Phe765Tyr)
c.2681T>A (p.Phe894Tyr)
c.2045T>A (p.Phe682Tyr)
c.-895T>A (n.-895T>A)
5g.177211500T>CCA362322010NSD1c.2228T>C (p.Phe743Ser)
n.612+7208T>C
n.2684T>C
c.2792T>C (p.Phe931Ser)
n.2498T>C
c.3101T>C (p.Phe1034Ser)
n.3248T>C
c.2294T>C (p.Phe765Ser)
c.2681T>C (p.Phe894Ser)
c.2045T>C (p.Phe682Ser)
c.-895T>C (n.-895T>C)
5g.177211500T>GCA362322012NSD1c.2228T>G (p.Phe743Cys)
n.612+7208T>G
n.2684T>G
c.2792T>G (p.Phe931Cys)
n.2498T>G
c.3101T>G (p.Phe1034Cys)
n.3248T>G
c.2294T>G (p.Phe765Cys)
c.2681T>G (p.Phe894Cys)
c.2045T>G (p.Phe682Cys)
c.-895T>G (n.-895T>G)
5g.177211501T>ACA362322016NSD1c.2229T>A (p.Phe743Leu)
n.612+7209T>A
n.2685T>A
c.2793T>A (p.Phe931Leu)
n.2499T>A
c.3102T>A (p.Phe1034Leu)
n.3249T>A
c.2295T>A (p.Phe765Leu)
c.2682T>A (p.Phe894Leu)
c.2046T>A (p.Phe682Leu)
c.-894T>A (n.-894T>A)
5g.177211501T>CCA447960870NSD1c.2229T>C (p.Phe743=)
n.612+7209T>C
n.2685T>C
c.2793T>C (p.Phe931=)
n.2499T>C
c.3102T>C (p.Phe1034=)
n.3249T>C
c.2295T>C (p.Phe765=)
c.2682T>C (p.Phe894=)
c.2046T>C (p.Phe682=)
c.-894T>C (n.-894T>C)
5g.177211501T>GCA362322018NSD1c.2229T>G (p.Phe743Leu)
n.612+7209T>G
n.2685T>G
c.2793T>G (p.Phe931Leu)
n.2499T>G
c.3102T>G (p.Phe1034Leu)
n.3249T>G
c.2295T>G (p.Phe765Leu)
c.2682T>G (p.Phe894Leu)
c.2046T>G (p.Phe682Leu)
c.-894T>G (n.-894T>G)
5g.177211502T>ACA362322021NSD1c.2230T>A (p.Ser744Thr)
n.612+7210T>A
n.2686T>A
c.2794T>A (p.Ser932Thr)
n.2500T>A
c.3103T>A (p.Ser1035Thr)
n.3250T>A
c.2296T>A (p.Ser766Thr)
c.2683T>A (p.Ser895Thr)
c.2047T>A (p.Ser683Thr)
c.-893T>A (n.-893T>A)
5g.177211502T>CCA362322022NSD1c.2230T>C (p.Ser744Pro)
n.612+7210T>C
n.2686T>C
c.2794T>C (p.Ser932Pro)
n.2500T>C
c.3103T>C (p.Ser1035Pro)
n.3250T>C
c.2296T>C (p.Ser766Pro)
c.2683T>C (p.Ser895Pro)
c.2047T>C (p.Ser683Pro)
c.-893T>C (n.-893T>C)
5g.177211502T>GCA362322025NSD1c.2230T>G (p.Ser744Ala)
n.612+7210T>G
n.2686T>G
c.2794T>G (p.Ser932Ala)
n.2500T>G
c.3103T>G (p.Ser1035Ala)
n.3250T>G
c.2296T>G (p.Ser766Ala)
c.2683T>G (p.Ser895Ala)
c.2047T>G (p.Ser683Ala)
c.-893T>G (n.-893T>G)
5g.177211503C>ACA362322028NSD1c.2231C>A (p.Ser744Ter)
n.612+7211C>A
n.2687C>A
c.2795C>A (p.Ser932Ter)
n.2501C>A
c.3104C>A (p.Ser1035Ter)
n.3251C>A
c.2297C>A (p.Ser766Ter)
c.2684C>A (p.Ser895Ter)
c.2048C>A (p.Ser683Ter)
c.-892C>A (n.-892C>A)
dbSNP COSMIC COSMIC
5g.177211503C=CA1603477990NSD1c.2231C= (p.Ser744=)
n.612+7211C=
n.2687C=
c.2795C= (p.Ser932=)
n.2501C=
c.3104C= (p.Ser1035=)
n.3251C=
c.2297C= (p.Ser766=)
c.2684C= (p.Ser895=)
c.2048C= (p.Ser683=)
c.-892C= (n.-892C=)
5g.177211503C>GCA362322030NSD1c.2231C>G (p.Ser744Ter)
n.612+7211C>G
n.2687C>G
c.2795C>G (p.Ser932Ter)
n.2501C>G
c.3104C>G (p.Ser1035Ter)
n.3251C>G
c.2297C>G (p.Ser766Ter)
c.2684C>G (p.Ser895Ter)
c.2048C>G (p.Ser683Ter)
c.-892C>G (n.-892C>G)
5g.177211503C>TCA3577377NSD1c.2231C>T (p.Ser744Leu)
n.612+7211C>T
n.2687C>T
c.2795C>T (p.Ser932Leu)
n.2501C>T
c.3104C>T (p.Ser1035Leu)
n.3251C>T
c.2297C>T (p.Ser766Leu)
c.2684C>T (p.Ser895Leu)
c.2048C>T (p.Ser683Leu)
c.-892C>T (n.-892C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211504A>CCA447960874NSD1c.2232A>C (p.Ser744=)
n.612+7212A>C
n.2688A>C
c.2796A>C (p.Ser932=)
n.2502A>C
c.3105A>C (p.Ser1035=)
n.3252A>C
c.2298A>C (p.Ser766=)
c.2685A>C (p.Ser895=)
c.2049A>C (p.Ser683=)
c.-891A>C (n.-891A>C)
5g.177211504A>GCA447960875NSD1c.2232A>G (p.Ser744=)
n.612+7212A>G
n.2688A>G
c.2796A>G (p.Ser932=)
n.2502A>G
c.3105A>G (p.Ser1035=)
n.3252A>G
c.2298A>G (p.Ser766=)
c.2685A>G (p.Ser895=)
c.2049A>G (p.Ser683=)
c.-891A>G (n.-891A>G)
gnomAD v4
5g.177211504A>TCA447960877NSD1c.2232A>T (p.Ser744=)
n.612+7212A>T
n.2688A>T
c.2796A>T (p.Ser932=)
n.2502A>T
c.3105A>T (p.Ser1035=)
n.3252A>T
c.2298A>T (p.Ser766=)
c.2685A>T (p.Ser895=)
c.2049A>T (p.Ser683=)
c.-891A>T (n.-891A>T)
5g.177211505G>ACA362322035NSD1c.2233G>A (p.Ala745Thr)
n.612+7213G>A
n.2689G>A
c.2797G>A (p.Ala933Thr)
n.2503G>A
c.3106G>A (p.Ala1036Thr)
n.3253G>A
c.2299G>A (p.Ala767Thr)
c.2686G>A (p.Ala896Thr)
c.2050G>A (p.Ala684Thr)
c.-890G>A (n.-890G>A)
5g.177211505G>CCA248755NSD1c.2233G>C (p.Ala745Pro)
n.612+7213G>C
n.2689G>C
c.2797G>C (p.Ala933Pro)
n.2503G>C
c.3106G>C (p.Ala1036Pro)
n.3253G>C
c.2299G>C (p.Ala767Pro)
c.2686G>C (p.Ala896Pro)
c.2050G>C (p.Ala684Pro)
c.-890G>C (n.-890G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211505G=CA1603477997NSD1c.2233G= (p.Ala745=)
n.612+7213G=
n.2689G=
c.2797G= (p.Ala933=)
n.2503G=
c.3106G= (p.Ala1036=)
n.3253G=
c.2299G= (p.Ala767=)
c.2686G= (p.Ala896=)
c.2050G= (p.Ala684=)
c.-890G= (n.-890G=)
5g.177211505G>TCA362322038NSD1c.2233G>T (p.Ala745Ser)
n.612+7213G>T
n.2689G>T
c.2797G>T (p.Ala933Ser)
n.2503G>T
c.3106G>T (p.Ala1036Ser)
n.3253G>T
c.2299G>T (p.Ala767Ser)
c.2686G>T (p.Ala896Ser)
c.2050G>T (p.Ala684Ser)
c.-890G>T (n.-890G>T)
gnomAD v4
5g.177211506C>ACA362322045NSD1c.2234C>A (p.Ala745Asp)
n.612+7214C>A
n.2690C>A
c.2798C>A (p.Ala933Asp)
n.2504C>A
c.3107C>A (p.Ala1036Asp)
n.3254C>A
c.2300C>A (p.Ala767Asp)
c.2687C>A (p.Ala896Asp)
c.2051C>A (p.Ala684Asp)
c.-889C>A (n.-889C>A)
dbSNP
5g.177211506C=CA1603477999NSD1c.2234C= (p.Ala745=)
n.612+7214C=
n.2690C=
c.2798C= (p.Ala933=)
n.2504C=
c.3107C= (p.Ala1036=)
n.3254C=
c.2300C= (p.Ala767=)
c.2687C= (p.Ala896=)
c.2051C= (p.Ala684=)
c.-889C= (n.-889C=)
5g.177211506C>GCA362322042NSD1c.2234C>G (p.Ala745Gly)
n.612+7214C>G
n.2690C>G
c.2798C>G (p.Ala933Gly)
n.2504C>G
c.3107C>G (p.Ala1036Gly)
n.3254C>G
c.2300C>G (p.Ala767Gly)
c.2687C>G (p.Ala896Gly)
c.2051C>G (p.Ala684Gly)
c.-889C>G (n.-889C>G)
gnomAD v4
5g.177211506C>TCA362322041NSD1c.2234C>T (p.Ala745Val)
n.612+7214C>T
n.2690C>T
c.2798C>T (p.Ala933Val)
n.2504C>T
c.3107C>T (p.Ala1036Val)
n.3254C>T
c.2300C>T (p.Ala767Val)
c.2687C>T (p.Ala896Val)
c.2051C>T (p.Ala684Val)
c.-889C>T (n.-889C>T)
dbSNP gnomAD v4
5g.177211507C>ACA447960880NSD1c.2235C>A (p.Ala745=)
n.612+7215C>A
n.2691C>A
c.2799C>A (p.Ala933=)
n.2505C>A
c.3108C>A (p.Ala1036=)
n.3255C>A
c.2301C>A (p.Ala767=)
c.2688C>A (p.Ala896=)
c.2052C>A (p.Ala684=)
c.-888C>A (n.-888C>A)
dbSNP
5g.177211507C=CA1603478002NSD1c.2235C= (p.Ala745=)
n.612+7215C=
n.2691C=
c.2799C= (p.Ala933=)
n.2505C=
c.3108C= (p.Ala1036=)
n.3255C=
c.2301C= (p.Ala767=)
c.2688C= (p.Ala896=)
c.2052C= (p.Ala684=)
c.-888C= (n.-888C=)
5g.177211507C>GCA447960882NSD1c.2235C>G (p.Ala745=)
n.612+7215C>G
n.2691C>G
c.2799C>G (p.Ala933=)
n.2505C>G
c.3108C>G (p.Ala1036=)
n.3255C>G
c.2301C>G (p.Ala767=)
c.2688C>G (p.Ala896=)
c.2052C>G (p.Ala684=)
c.-888C>G (n.-888C>G)
gnomAD v4 COSMIC COSMIC
5g.177211507C>TCA3577378NSD1c.2235C>T (p.Ala745=)
n.612+7215C>T
n.2691C>T
c.2799C>T (p.Ala933=)
n.2505C>T
c.3108C>T (p.Ala1036=)
n.3255C>T
c.2301C>T (p.Ala767=)
c.2688C>T (p.Ala896=)
c.2052C>T (p.Ala684=)
c.-888C>T (n.-888C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211508C>ACA362322054NSD1c.2236C>A (p.Gln746Lys)
n.612+7216C>A
n.2692C>A
c.2800C>A (p.Gln934Lys)
n.2506C>A
c.3109C>A (p.Gln1037Lys)
n.3256C>A
c.2302C>A (p.Gln768Lys)
c.2689C>A (p.Gln897Lys)
c.2053C>A (p.Gln685Lys)
c.-887C>A (n.-887C>A)
5g.177211508C>GCA362322050NSD1c.2236C>G (p.Gln746Glu)
n.612+7216C>G
n.2692C>G
c.2800C>G (p.Gln934Glu)
n.2506C>G
c.3109C>G (p.Gln1037Glu)
n.3256C>G
c.2302C>G (p.Gln768Glu)
c.2689C>G (p.Gln897Glu)
c.2053C>G (p.Gln685Glu)
c.-887C>G (n.-887C>G)
5g.177211508C>TCA362322052NSD1c.2236C>T (p.Gln746Ter)
n.612+7216C>T
n.2692C>T
c.2800C>T (p.Gln934Ter)
n.2506C>T
c.3109C>T (p.Gln1037Ter)
n.3256C>T
c.2302C>T (p.Gln768Ter)
c.2689C>T (p.Gln897Ter)
c.2053C>T (p.Gln685Ter)
c.-887C>T (n.-887C>T)
ClinVar dbSNP
5g.177211509A=CA1603478007NSD1c.2237A= (p.Gln746=)
n.612+7217A=
n.2693A=
c.2801A= (p.Gln934=)
n.2507A=
c.3110A= (p.Gln1037=)
n.3257A=
c.2303A= (p.Gln768=)
c.2690A= (p.Gln897=)
c.2054A= (p.Gln685=)
c.-886A= (n.-886A=)
5g.177211509A>CCA362322058NSD1c.2237A>C (p.Gln746Pro)
n.612+7217A>C
n.2693A>C
c.2801A>C (p.Gln934Pro)
n.2507A>C
c.3110A>C (p.Gln1037Pro)
n.3257A>C
c.2303A>C (p.Gln768Pro)
c.2690A>C (p.Gln897Pro)
c.2054A>C (p.Gln685Pro)
c.-886A>C (n.-886A>C)
5g.177211509A>GCA246230NSD1c.2237A>G (p.Gln746Arg)
n.612+7217A>G
n.2693A>G
c.2801A>G (p.Gln934Arg)
n.2507A>G
c.3110A>G (p.Gln1037Arg)
n.3257A>G
c.2303A>G (p.Gln768Arg)
c.2690A>G (p.Gln897Arg)
c.2054A>G (p.Gln685Arg)
c.-886A>G (n.-886A>G)
ClinVar dbSNP
5g.177211509A>TCA362322061NSD1c.2237A>T (p.Gln746Leu)
n.612+7217A>T
n.2693A>T
c.2801A>T (p.Gln934Leu)
n.2507A>T
c.3110A>T (p.Gln1037Leu)
n.3257A>T
c.2303A>T (p.Gln768Leu)
c.2690A>T (p.Gln897Leu)
c.2054A>T (p.Gln685Leu)
c.-886A>T (n.-886A>T)
5g.177211510A=CA1603478010NSD1c.2238A= (p.Gln746=)
n.612+7218A=
n.2694A=
c.2802A= (p.Gln934=)
n.2508A=
c.3111A= (p.Gln1037=)
n.3258A=
c.2304A= (p.Gln768=)
c.2691A= (p.Gln897=)
c.2055A= (p.Gln685=)
c.-885A= (n.-885A=)
5g.177211510A>CCA362322069NSD1c.2238A>C (p.Gln746His)
n.612+7218A>C
n.2694A>C
c.2802A>C (p.Gln934His)
n.2508A>C
c.3111A>C (p.Gln1037His)
n.3258A>C
c.2304A>C (p.Gln768His)
c.2691A>C (p.Gln897His)
c.2055A>C (p.Gln685His)
c.-885A>C (n.-885A>C)
5g.177211510A>GCA3577379NSD1c.2238A>G (p.Gln746=)
n.612+7218A>G
n.2694A>G
c.2802A>G (p.Gln934=)
n.2508A>G
c.3111A>G (p.Gln1037=)
n.3258A>G
c.2304A>G (p.Gln768=)
c.2691A>G (p.Gln897=)
c.2055A>G (p.Gln685=)
c.-885A>G (n.-885A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211510A>TCA362322065NSD1c.2238A>T (p.Gln746His)
n.612+7218A>T
n.2694A>T
c.2802A>T (p.Gln934His)
n.2508A>T
c.3111A>T (p.Gln1037His)
n.3258A>T
c.2304A>T (p.Gln768His)
c.2691A>T (p.Gln897His)
c.2055A>T (p.Gln685His)
c.-885A>T (n.-885A>T)
gnomAD v4
5g.177211511A=CA1603478019NSD1c.2239A= (p.Met747=)
n.612+7219A=
n.2695A=
c.2803A= (p.Met935=)
n.2509A=
c.3112A= (p.Met1038=)
n.3259A=
c.2305A= (p.Met769=)
c.2692A= (p.Met898=)
c.2056A= (p.Met686=)
c.-884A= (n.-884A=)
5g.177211511A>CCA362322073NSD1c.2239A>C (p.Met747Leu)
n.612+7219A>C
n.2695A>C
c.2803A>C (p.Met935Leu)
n.2509A>C
c.3112A>C (p.Met1038Leu)
n.3259A>C
c.2305A>C (p.Met769Leu)
c.2692A>C (p.Met898Leu)
c.2056A>C (p.Met686Leu)
c.-884A>C (n.-884A>C)
5g.177211511A>GCA362322076NSD1c.2239A>G (p.Met747Val)
n.612+7219A>G
n.2695A>G
c.2803A>G (p.Met935Val)
n.2509A>G
c.3112A>G (p.Met1038Val)
n.3259A>G
c.2305A>G (p.Met769Val)
c.2692A>G (p.Met898Val)
c.2056A>G (p.Met686Val)
c.-884A>G (n.-884A>G)
dbSNP
5g.177211511A>TCA362322079NSD1c.2239A>T (p.Met747Leu)
n.612+7219A>T
n.2695A>T
c.2803A>T (p.Met935Leu)
n.2509A>T
c.3112A>T (p.Met1038Leu)
n.3259A>T
c.2305A>T (p.Met769Leu)
c.2692A>T (p.Met898Leu)
c.2056A>T (p.Met686Leu)
c.-884A>T (n.-884A>T)
5g.177211512T>ACA362322083NSD1c.2240T>A (p.Met747Lys)
n.612+7220T>A
n.2696T>A
c.2804T>A (p.Met935Lys)
n.2510T>A
c.3113T>A (p.Met1038Lys)
n.3260T>A
c.2306T>A (p.Met769Lys)
c.2693T>A (p.Met898Lys)
c.2057T>A (p.Met686Lys)
c.-883T>A (n.-883T>A)
5g.177211512T>CCA362322086NSD1c.2240T>C (p.Met747Thr)
n.612+7220T>C
n.2696T>C
c.2804T>C (p.Met935Thr)
n.2510T>C
c.3113T>C (p.Met1038Thr)
n.3260T>C
c.2306T>C (p.Met769Thr)
c.2693T>C (p.Met898Thr)
c.2057T>C (p.Met686Thr)
c.-883T>C (n.-883T>C)
gnomAD v4
5g.177211512T>GCA362322088NSD1c.2240T>G (p.Met747Arg)
n.612+7220T>G
n.2696T>G
c.2804T>G (p.Met935Arg)
n.2510T>G
c.3113T>G (p.Met1038Arg)
n.3260T>G
c.2306T>G (p.Met769Arg)
c.2693T>G (p.Met898Arg)
c.2057T>G (p.Met686Arg)
c.-883T>G (n.-883T>G)
5g.177211513G>ACA362322091NSD1c.2241G>A (p.Met747Ile)
n.612+7221G>A
n.2697G>A
c.2805G>A (p.Met935Ile)
n.2511G>A
c.3114G>A (p.Met1038Ile)
n.3261G>A
c.2307G>A (p.Met769Ile)
c.2694G>A (p.Met898Ile)
c.2058G>A (p.Met686Ile)
c.-882G>A (n.-882G>A)
5g.177211513G>CCA362322097NSD1c.2241G>C (p.Met747Ile)
n.612+7221G>C
n.2697G>C
c.2805G>C (p.Met935Ile)
n.2511G>C
c.3114G>C (p.Met1038Ile)
n.3261G>C
c.2307G>C (p.Met769Ile)
c.2694G>C (p.Met898Ile)
c.2058G>C (p.Met686Ile)
c.-882G>C (n.-882G>C)
5g.177211513G=CA1603478026NSD1c.2241G= (p.Met747=)
n.612+7221G=
n.2697G=
c.2805G= (p.Met935=)
n.2511G=
c.3114G= (p.Met1038=)
n.3261G=
c.2307G= (p.Met769=)
c.2694G= (p.Met898=)
c.2058G= (p.Met686=)
c.-882G= (n.-882G=)
5g.177211513G>TCA362322094NSD1c.2241G>T (p.Met747Ile)
n.612+7221G>T
n.2697G>T
c.2805G>T (p.Met935Ile)
n.2511G>T
c.3114G>T (p.Met1038Ile)
n.3261G>T
c.2307G>T (p.Met769Ile)
c.2694G>T (p.Met898Ile)
c.2058G>T (p.Met686Ile)
c.-882G>T (n.-882G>T)
ClinVar dbSNP
5g.177211514G>ACA362322112NSD1c.2242G>A (p.Val748Ile)
n.612+7222G>A
n.2698G>A
c.2806G>A (p.Val936Ile)
n.2512G>A
c.3115G>A (p.Val1039Ile)
n.3262G>A
c.2308G>A (p.Val770Ile)
c.2695G>A (p.Val899Ile)
c.2059G>A (p.Val687Ile)
c.-881G>A (n.-881G>A)
dbSNP gnomAD v2 gnomAD v4
5g.177211514G>CCA362322115NSD1c.2242G>C (p.Val748Leu)
n.612+7222G>C
n.2698G>C
c.2806G>C (p.Val936Leu)
n.2512G>C
c.3115G>C (p.Val1039Leu)
n.3262G>C
c.2308G>C (p.Val770Leu)
c.2695G>C (p.Val899Leu)
c.2059G>C (p.Val687Leu)
c.-881G>C (n.-881G>C)
5g.177211514G=CA1603478032NSD1c.2242G= (p.Val748=)
n.612+7222G=
n.2698G=
c.2806G= (p.Val936=)
n.2512G=
c.3115G= (p.Val1039=)
n.3262G=
c.2308G= (p.Val770=)
c.2695G= (p.Val899=)
c.2059G= (p.Val687=)
c.-881G= (n.-881G=)
5g.177211514G>TCA362322117NSD1c.2242G>T (p.Val748Leu)
n.612+7222G>T
n.2698G>T
c.2806G>T (p.Val936Leu)
n.2512G>T
c.3115G>T (p.Val1039Leu)
n.3262G>T
c.2308G>T (p.Val770Leu)
c.2695G>T (p.Val899Leu)
c.2059G>T (p.Val687Leu)
c.-881G>T (n.-881G>T)
5g.177211515T>ACA362322122NSD1c.2243T>A (p.Val748Glu)
n.612+7223T>A
n.2699T>A
c.2807T>A (p.Val936Glu)
n.2513T>A
c.3116T>A (p.Val1039Glu)
n.3263T>A
c.2309T>A (p.Val770Glu)
c.2696T>A (p.Val899Glu)
c.2060T>A (p.Val687Glu)
c.-880T>A (n.-880T>A)
dbSNP
5g.177211515T>CCA362322124NSD1c.2243T>C (p.Val748Ala)
n.612+7223T>C
n.2699T>C
c.2807T>C (p.Val936Ala)
n.2513T>C
c.3116T>C (p.Val1039Ala)
n.3263T>C
c.2309T>C (p.Val770Ala)
c.2696T>C (p.Val899Ala)
c.2060T>C (p.Val687Ala)
c.-880T>C (n.-880T>C)
5g.177211515T>GCA362322127NSD1c.2243T>G (p.Val748Gly)
n.612+7223T>G
n.2699T>G
c.2807T>G (p.Val936Gly)
n.2513T>G
c.3116T>G (p.Val1039Gly)
n.3263T>G
c.2309T>G (p.Val770Gly)
c.2696T>G (p.Val899Gly)
c.2060T>G (p.Val687Gly)
c.-880T>G (n.-880T>G)
gnomAD v4
5g.177211516A=CA1603478037NSD1c.2244A= (p.Val748=)
n.612+7224A=
n.2700A=
c.2808A= (p.Val936=)
n.2514A=
c.3117A= (p.Val1039=)
n.3264A=
c.2310A= (p.Val770=)
c.2697A= (p.Val899=)
c.2061A= (p.Val687=)
c.-879A= (n.-879A=)
5g.177211516A>CCA447960894NSD1c.2244A>C (p.Val748=)
n.612+7224A>C
n.2700A>C
c.2808A>C (p.Val936=)
n.2514A>C
c.3117A>C (p.Val1039=)
n.3264A>C
c.2310A>C (p.Val770=)
c.2697A>C (p.Val899=)
c.2061A>C (p.Val687=)
c.-879A>C (n.-879A>C)
5g.177211516A>GCA3577380NSD1c.2244A>G (p.Val748=)
n.612+7224A>G
n.2700A>G
c.2808A>G (p.Val936=)
n.2514A>G
c.3117A>G (p.Val1039=)
n.3264A>G
c.2310A>G (p.Val770=)
c.2697A>G (p.Val899=)
c.2061A>G (p.Val687=)
c.-879A>G (n.-879A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211516A>TCA447960895NSD1c.2244A>T (p.Val748=)
n.612+7224A>T
n.2700A>T
c.2808A>T (p.Val936=)
n.2514A>T
c.3117A>T (p.Val1039=)
n.3264A>T
c.2310A>T (p.Val770=)
c.2697A>T (p.Val899=)
c.2061A>T (p.Val687=)
c.-879A>T (n.-879A>T)
5g.177211518delCA2711100522NSD1c.2246del (p.Lys749ArgfsTer4)
n.612+7226del
n.2702del
c.2810del (p.Lys937ArgfsTer4)
n.2516del
c.3119del (p.Lys1040ArgfsTer4)
n.3266del
c.2312del (p.Lys771ArgfsTer4)
c.2699del (p.Lys900ArgfsTer4)
c.2063del (p.Lys688ArgfsTer4)
c.-877del (n.-877del)
dbSNP
5g.177211517A>CCA362322133NSD1c.2245A>C (p.Lys749Gln)
n.612+7225A>C
n.2701A>C
c.2809A>C (p.Lys937Gln)
n.2515A>C
c.3118A>C (p.Lys1040Gln)
n.3265A>C
c.2311A>C (p.Lys771Gln)
c.2698A>C (p.Lys900Gln)
c.2062A>C (p.Lys688Gln)
c.-878A>C (n.-878A>C)
5g.177211517A>GCA362322135NSD1c.2245A>G (p.Lys749Glu)
n.612+7225A>G
n.2701A>G
c.2809A>G (p.Lys937Glu)
n.2515A>G
c.3118A>G (p.Lys1040Glu)
n.3265A>G
c.2311A>G (p.Lys771Glu)
c.2698A>G (p.Lys900Glu)
c.2062A>G (p.Lys688Glu)
c.-878A>G (n.-878A>G)
5g.177211517A>TCA362322138NSD1c.2245A>T (p.Lys749Ter)
n.612+7225A>T
n.2701A>T
c.2809A>T (p.Lys937Ter)
n.2515A>T
c.3118A>T (p.Lys1040Ter)
n.3265A>T
c.2311A>T (p.Lys771Ter)
c.2698A>T (p.Lys900Ter)
c.2062A>T (p.Lys688Ter)
c.-878A>T (n.-878A>T)
5g.177211518A=CA1603478039NSD1c.2246A= (p.Lys749=)
n.612+7226A=
n.2702A=
c.2810A= (p.Lys937=)
n.2516A=
c.3119A= (p.Lys1040=)
n.3266A=
c.2312A= (p.Lys771=)
c.2699A= (p.Lys900=)
c.2063A= (p.Lys688=)
c.-877A= (n.-877A=)
5g.177211518A>CCA362322146NSD1c.2246A>C (p.Lys749Thr)
n.612+7226A>C
n.2702A>C
c.2810A>C (p.Lys937Thr)
n.2516A>C
c.3119A>C (p.Lys1040Thr)
n.3266A>C
c.2312A>C (p.Lys771Thr)
c.2699A>C (p.Lys900Thr)
c.2063A>C (p.Lys688Thr)
c.-877A>C (n.-877A>C)
dbSNP gnomAD v2 gnomAD v4
5g.177211518A>GCA362322145NSD1c.2246A>G (p.Lys749Arg)
n.612+7226A>G
n.2702A>G
c.2810A>G (p.Lys937Arg)
n.2516A>G
c.3119A>G (p.Lys1040Arg)
n.3266A>G
c.2312A>G (p.Lys771Arg)
c.2699A>G (p.Lys900Arg)
c.2063A>G (p.Lys688Arg)
c.-877A>G (n.-877A>G)
dbSNP gnomAD v2 gnomAD v4
5g.177211518A>TCA362322142NSD1c.2246A>T (p.Lys749Met)
n.612+7226A>T
n.2702A>T
c.2810A>T (p.Lys937Met)
n.2516A>T
c.3119A>T (p.Lys1040Met)
n.3266A>T
c.2312A>T (p.Lys771Met)
c.2699A>T (p.Lys900Met)
c.2063A>T (p.Lys688Met)
c.-877A>T (n.-877A>T)
5g.177211519G>ACA447960897NSD1c.2247G>A (p.Lys749=)
n.612+7227G>A
n.2703G>A
c.2811G>A (p.Lys937=)
n.2517G>A
c.3120G>A (p.Lys1040=)
n.3267G>A
c.2313G>A (p.Lys771=)
c.2700G>A (p.Lys900=)
c.2064G>A (p.Lys688=)
c.-876G>A (n.-876G>A)
5g.177211519G>CCA362322149NSD1c.2247G>C (p.Lys749Asn)
n.612+7227G>C
n.2703G>C
c.2811G>C (p.Lys937Asn)
n.2517G>C
c.3120G>C (p.Lys1040Asn)
n.3267G>C
c.2313G>C (p.Lys771Asn)
c.2700G>C (p.Lys900Asn)
c.2064G>C (p.Lys688Asn)
c.-876G>C (n.-876G>C)
5g.177211519G=CA1603478044NSD1c.2247G= (p.Lys749=)
n.612+7227G=
n.2703G=
c.2811G= (p.Lys937=)
n.2517G=
c.3120G= (p.Lys1040=)
n.3267G=
c.2313G= (p.Lys771=)
c.2700G= (p.Lys900=)
c.2064G= (p.Lys688=)
c.-876G= (n.-876G=)
5g.177211519G>TCA362322151NSD1c.2247G>T (p.Lys749Asn)
n.612+7227G>T
n.2703G>T
c.2811G>T (p.Lys937Asn)
n.2517G>T
c.3120G>T (p.Lys1040Asn)
n.3267G>T
c.2313G>T (p.Lys771Asn)
c.2700G>T (p.Lys900Asn)
c.2064G>T (p.Lys688Asn)
c.-876G>T (n.-876G>T)
dbSNP gnomAD v4
5g.177211520A=CA1603478067NSD1c.2248A= (p.Asn750=)
n.612+7228A=
n.2704A=
c.2812A= (p.Asn938=)
n.2518A=
c.3121A= (p.Asn1041=)
n.3268A=
c.2314A= (p.Asn772=)
c.2701A= (p.Asn901=)
c.2065A= (p.Asn689=)
c.-875A= (n.-875A=)
5g.177211520A>CCA362322154NSD1c.2248A>C (p.Asn750His)
n.612+7228A>C
n.2704A>C
c.2812A>C (p.Asn938His)
n.2518A>C
c.3121A>C (p.Asn1041His)
n.3268A>C
c.2314A>C (p.Asn772His)
c.2701A>C (p.Asn901His)
c.2065A>C (p.Asn689His)
c.-875A>C (n.-875A>C)
5g.177211520A>GCA3577381NSD1c.2248A>G (p.Asn750Asp)
n.612+7228A>G
n.2704A>G
c.2812A>G (p.Asn938Asp)
n.2518A>G
c.3121A>G (p.Asn1041Asp)
n.3268A>G
c.2314A>G (p.Asn772Asp)
c.2701A>G (p.Asn901Asp)
c.2065A>G (p.Asn689Asp)
c.-875A>G (n.-875A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211520A>TCA362322157NSD1c.2248A>T (p.Asn750Tyr)
n.612+7228A>T
n.2704A>T
c.2812A>T (p.Asn938Tyr)
n.2518A>T
c.3121A>T (p.Asn1041Tyr)
n.3268A>T
c.2314A>T (p.Asn772Tyr)
c.2701A>T (p.Asn901Tyr)
c.2065A>T (p.Asn689Tyr)
c.-875A>T (n.-875A>T)
5g.177211521A>CCA362322160NSD1c.2249A>C (p.Asn750Thr)
n.612+7229A>C
n.2705A>C
c.2813A>C (p.Asn938Thr)
n.2519A>C
c.3122A>C (p.Asn1041Thr)
n.3269A>C
c.2315A>C (p.Asn772Thr)
c.2702A>C (p.Asn901Thr)
c.2066A>C (p.Asn689Thr)
c.-874A>C (n.-874A>C)
5g.177211521A>GCA362322162NSD1c.2249A>G (p.Asn750Ser)
n.612+7229A>G
n.2705A>G
c.2813A>G (p.Asn938Ser)
n.2519A>G
c.3122A>G (p.Asn1041Ser)
n.3269A>G
c.2315A>G (p.Asn772Ser)
c.2702A>G (p.Asn901Ser)
c.2066A>G (p.Asn689Ser)
c.-874A>G (n.-874A>G)
5g.177211521A>TCA362322164NSD1c.2249A>T (p.Asn750Ile)
n.612+7229A>T
n.2705A>T
c.2813A>T (p.Asn938Ile)
n.2519A>T
c.3122A>T (p.Asn1041Ile)
n.3269A>T
c.2315A>T (p.Asn772Ile)
c.2702A>T (p.Asn901Ile)
c.2066A>T (p.Asn689Ile)
c.-874A>T (n.-874A>T)
5g.177211522C>ACA3577382NSD1c.2250C>A (p.Asn750Lys)
n.612+7230C>A
n.2706C>A
c.2814C>A (p.Asn938Lys)
n.2520C>A
c.3123C>A (p.Asn1041Lys)
n.3270C>A
c.2316C>A (p.Asn772Lys)
c.2703C>A (p.Asn901Lys)
c.2067C>A (p.Asn689Lys)
c.-873C>A (n.-873C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211522C=CA1603478072NSD1c.2250C= (p.Asn750=)
n.612+7230C=
n.2706C=
c.2814C= (p.Asn938=)
n.2520C=
c.3123C= (p.Asn1041=)
n.3270C=
c.2316C= (p.Asn772=)
c.2703C= (p.Asn901=)
c.2067C= (p.Asn689=)
c.-873C= (n.-873C=)
5g.177211522C>GCA362322167NSD1c.2250C>G (p.Asn750Lys)
n.612+7230C>G
n.2706C>G
c.2814C>G (p.Asn938Lys)
n.2520C>G
c.3123C>G (p.Asn1041Lys)
n.3270C>G
c.2316C>G (p.Asn772Lys)
c.2703C>G (p.Asn901Lys)
c.2067C>G (p.Asn689Lys)
c.-873C>G (n.-873C>G)
5g.177211522C>TCA447960901NSD1c.2250C>T (p.Asn750=)
n.612+7230C>T
n.2706C>T
c.2814C>T (p.Asn938=)
n.2520C>T
c.3123C>T (p.Asn1041=)
n.3270C>T
c.2316C>T (p.Asn772=)
c.2703C>T (p.Asn901=)
c.2067C>T (p.Asn689=)
c.-873C>T (n.-873C>T)
dbSNP gnomAD v3 gnomAD v4
5g.177211523A=CA1603478076NSD1c.2251A= (p.Thr751=)
n.612+7231A=
n.2707A=
c.2815A= (p.Thr939=)
n.2521A=
c.3124A= (p.Thr1042=)
n.3271A=
c.2317A= (p.Thr773=)
c.2704A= (p.Thr902=)
c.2068A= (p.Thr690=)
c.-872A= (n.-872A=)
5g.177211523A>CCA362322170NSD1c.2251A>C (p.Thr751Pro)
n.612+7231A>C
n.2707A>C
c.2815A>C (p.Thr939Pro)
n.2521A>C
c.3124A>C (p.Thr1042Pro)
n.3271A>C
c.2317A>C (p.Thr773Pro)
c.2704A>C (p.Thr902Pro)
c.2068A>C (p.Thr690Pro)
c.-872A>C (n.-872A>C)
5g.177211523A>GCA362322171NSD1c.2251A>G (p.Thr751Ala)
n.612+7231A>G
n.2707A>G
c.2815A>G (p.Thr939Ala)
n.2521A>G
c.3124A>G (p.Thr1042Ala)
n.3271A>G
c.2317A>G (p.Thr773Ala)
c.2704A>G (p.Thr902Ala)
c.2068A>G (p.Thr690Ala)
c.-872A>G (n.-872A>G)
dbSNP gnomAD v2 gnomAD v4
5g.177211523A>TCA362322174NSD1c.2251A>T (p.Thr751Ser)
n.612+7231A>T
n.2707A>T
c.2815A>T (p.Thr939Ser)
n.2521A>T
c.3124A>T (p.Thr1042Ser)
n.3271A>T
c.2317A>T (p.Thr773Ser)
c.2704A>T (p.Thr902Ser)
c.2068A>T (p.Thr690Ser)
c.-872A>T (n.-872A>T)
5g.177211524C>ACA362322180NSD1c.2252C>A (p.Thr751Lys)
n.612+7232C>A
n.2708C>A
c.2816C>A (p.Thr939Lys)
n.2522C>A
c.3125C>A (p.Thr1042Lys)
n.3272C>A
c.2318C>A (p.Thr773Lys)
c.2705C>A (p.Thr902Lys)
c.2069C>A (p.Thr690Lys)
c.-871C>A (n.-871C>A)
5g.177211524C=CA1603478083NSD1c.2252C= (p.Thr751=)
n.612+7232C=
n.2708C=
c.2816C= (p.Thr939=)
n.2522C=
c.3125C= (p.Thr1042=)
n.3272C=
c.2318C= (p.Thr773=)
c.2705C= (p.Thr902=)
c.2069C= (p.Thr690=)
c.-871C= (n.-871C=)
5g.177211524C>GCA3577383NSD1c.2252C>G (p.Thr751Arg)
n.612+7232C>G
n.2708C>G
c.2816C>G (p.Thr939Arg)
n.2522C>G
c.3125C>G (p.Thr1042Arg)
n.3272C>G
c.2318C>G (p.Thr773Arg)
c.2705C>G (p.Thr902Arg)
c.2069C>G (p.Thr690Arg)
c.-871C>G (n.-871C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211524C>TCA362322178NSD1c.2252C>T (p.Thr751Ile)
n.612+7232C>T
n.2708C>T
c.2816C>T (p.Thr939Ile)
n.2522C>T
c.3125C>T (p.Thr1042Ile)
n.3272C>T
c.2318C>T (p.Thr773Ile)
c.2705C>T (p.Thr902Ile)
c.2069C>T (p.Thr690Ile)
c.-871C>T (n.-871C>T)
dbSNP gnomAD v4
5g.177211524dupCA2695202825NSD1c.2252dup (p.Val752SerfsTer4)
n.612+7232dup
n.2708dup
c.2816dup (p.Val940SerfsTer4)
n.2522dup
c.3125dup (p.Val1043SerfsTer4)
n.3272dup
c.2318dup (p.Val774SerfsTer4)
c.2705dup (p.Val903SerfsTer4)
c.2069dup (p.Val691SerfsTer4)
c.-871dup (n.-871dup)
5g.177211525A=CA1603478085NSD1c.2253A= (p.Thr751=)
n.612+7233A=
n.2709A=
c.2817A= (p.Thr939=)
n.2523A=
c.3126A= (p.Thr1042=)
n.3273A=
c.2319A= (p.Thr773=)
c.2706A= (p.Thr902=)
c.2070A= (p.Thr690=)
c.-870A= (n.-870A=)
5g.177211525A>CCA447960905NSD1c.2253A>C (p.Thr751=)
n.612+7233A>C
n.2709A>C
c.2817A>C (p.Thr939=)
n.2523A>C
c.3126A>C (p.Thr1042=)
n.3273A>C
c.2319A>C (p.Thr773=)
c.2706A>C (p.Thr902=)
c.2070A>C (p.Thr690=)
c.-870A>C (n.-870A>C)
5g.177211525A>GCA447960906NSD1c.2253A>G (p.Thr751=)
n.612+7233A>G
n.2709A>G
c.2817A>G (p.Thr939=)
n.2523A>G
c.3126A>G (p.Thr1042=)
n.3273A>G
c.2319A>G (p.Thr773=)
c.2706A>G (p.Thr902=)
c.2070A>G (p.Thr690=)
c.-870A>G (n.-870A>G)
dbSNP
5g.177211525A>TCA447960907NSD1c.2253A>T (p.Thr751=)
n.612+7233A>T
n.2709A>T
c.2817A>T (p.Thr939=)
n.2523A>T
c.3126A>T (p.Thr1042=)
n.3273A>T
c.2319A>T (p.Thr773=)
c.2706A>T (p.Thr902=)
c.2070A>T (p.Thr690=)
c.-870A>T (n.-870A>T)
5g.177211526G>ACA362322182NSD1c.2254G>A (p.Val752Met)
n.612+7234G>A
n.2710G>A
c.2818G>A (p.Val940Met)
n.2524G>A
c.3127G>A (p.Val1043Met)
n.3274G>A
c.2320G>A (p.Val774Met)
c.2707G>A (p.Val903Met)
c.2071G>A (p.Val691Met)
c.-869G>A (n.-869G>A)
dbSNP
5g.177211526G>CCA362322184NSD1c.2254G>C (p.Val752Leu)
n.612+7234G>C
n.2710G>C
c.2818G>C (p.Val940Leu)
n.2524G>C
c.3127G>C (p.Val1043Leu)
n.3274G>C
c.2320G>C (p.Val774Leu)
c.2707G>C (p.Val903Leu)
c.2071G>C (p.Val691Leu)
c.-869G>C (n.-869G>C)
dbSNP
5g.177211526G=CA1603478087NSD1c.2254G= (p.Val752=)
n.612+7234G=
n.2710G=
c.2818G= (p.Val940=)
n.2524G=
c.3127G= (p.Val1043=)
n.3274G=
c.2320G= (p.Val774=)
c.2707G= (p.Val903=)
c.2071G= (p.Val691=)
c.-869G= (n.-869G=)
5g.177211526G>TCA362322186NSD1c.2254G>T (p.Val752Leu)
n.612+7234G>T
n.2710G>T
c.2818G>T (p.Val940Leu)
n.2524G>T
c.3127G>T (p.Val1043Leu)
n.3274G>T
c.2320G>T (p.Val774Leu)
c.2707G>T (p.Val903Leu)
c.2071G>T (p.Val691Leu)
c.-869G>T (n.-869G>T)
5g.177211527T>ACA362322189NSD1c.2255T>A (p.Val752Glu)
n.612+7235T>A
n.2711T>A
c.2819T>A (p.Val940Glu)
n.2525T>A
c.3128T>A (p.Val1043Glu)
n.3275T>A
c.2321T>A (p.Val774Glu)
c.2708T>A (p.Val903Glu)
c.2072T>A (p.Val691Glu)
c.-868T>A (n.-868T>A)
dbSNP
5g.177211527T>CCA362322190NSD1c.2255T>C (p.Val752Ala)
n.612+7235T>C
n.2711T>C
c.2819T>C (p.Val940Ala)
n.2525T>C
c.3128T>C (p.Val1043Ala)
n.3275T>C
c.2321T>C (p.Val774Ala)
c.2708T>C (p.Val903Ala)
c.2072T>C (p.Val691Ala)
c.-868T>C (n.-868T>C)
gnomAD v4
5g.177211527T>GCA362322193NSD1c.2255T>G (p.Val752Gly)
n.612+7235T>G
n.2711T>G
c.2819T>G (p.Val940Gly)
n.2525T>G
c.3128T>G (p.Val1043Gly)
n.3275T>G
c.2321T>G (p.Val774Gly)
c.2708T>G (p.Val903Gly)
c.2072T>G (p.Val691Gly)
c.-868T>G (n.-868T>G)
gnomAD v4
5g.177211528G>ACA447960912NSD1c.2256G>A (p.Val752=)
n.612+7236G>A
n.2712G>A
c.2820G>A (p.Val940=)
n.2526G>A
c.3129G>A (p.Val1043=)
n.3276G>A
c.2322G>A (p.Val774=)
c.2709G>A (p.Val903=)
c.2073G>A (p.Val691=)
c.-867G>A (n.-867G>A)
dbSNP
5g.177211528G>CCA447960913NSD1c.2256G>C (p.Val752=)
n.612+7236G>C
n.2712G>C
c.2820G>C (p.Val940=)
n.2526G>C
c.3129G>C (p.Val1043=)
n.3276G>C
c.2322G>C (p.Val774=)
c.2709G>C (p.Val903=)
c.2073G>C (p.Val691=)
c.-867G>C (n.-867G>C)
5g.177211528G>TCA447960914NSD1c.2256G>T (p.Val752=)
n.612+7236G>T
n.2712G>T
c.2820G>T (p.Val940=)
n.2526G>T
c.3129G>T (p.Val1043=)
n.3276G>T
c.2322G>T (p.Val774=)
c.2709G>T (p.Val903=)
c.2073G>T (p.Val691=)
c.-867G>T (n.-867G>T)
5g.177211529A>CCA362322196NSD1c.2257A>C (p.Asn753His)
n.612+7237A>C
n.2713A>C
c.2821A>C (p.Asn941His)
n.2527A>C
c.3130A>C (p.Asn1044His)
n.3277A>C
c.2323A>C (p.Asn775His)
c.2710A>C (p.Asn904His)
c.2074A>C (p.Asn692His)
c.-866A>C (n.-866A>C)
5g.177211529A>GCA362322197NSD1c.2257A>G (p.Asn753Asp)
n.612+7237A>G
n.2713A>G
c.2821A>G (p.Asn941Asp)
n.2527A>G
c.3130A>G (p.Asn1044Asp)
n.3277A>G
c.2323A>G (p.Asn775Asp)
c.2710A>G (p.Asn904Asp)
c.2074A>G (p.Asn692Asp)
c.-866A>G (n.-866A>G)
5g.177211529A>TCA362322199NSD1c.2257A>T (p.Asn753Tyr)
n.612+7237A>T
n.2713A>T
c.2821A>T (p.Asn941Tyr)
n.2527A>T
c.3130A>T (p.Asn1044Tyr)
n.3277A>T
c.2323A>T (p.Asn775Tyr)
c.2710A>T (p.Asn904Tyr)
c.2074A>T (p.Asn692Tyr)
c.-866A>T (n.-866A>T)
5g.177211530A>CCA362322203NSD1c.2258A>C (p.Asn753Thr)
n.612+7238A>C
n.2714A>C
c.2822A>C (p.Asn941Thr)
n.2528A>C
c.3131A>C (p.Asn1044Thr)
n.3278A>C
c.2324A>C (p.Asn775Thr)
c.2711A>C (p.Asn904Thr)
c.2075A>C (p.Asn692Thr)
c.-865A>C (n.-865A>C)
5g.177211530A>GCA362322205NSD1c.2258A>G (p.Asn753Ser)
n.612+7238A>G
n.2714A>G
c.2822A>G (p.Asn941Ser)
n.2528A>G
c.3131A>G (p.Asn1044Ser)
n.3278A>G
c.2324A>G (p.Asn775Ser)
c.2711A>G (p.Asn904Ser)
c.2075A>G (p.Asn692Ser)
c.-865A>G (n.-865A>G)
5g.177211530A>TCA362322207NSD1c.2258A>T (p.Asn753Ile)
n.612+7238A>T
n.2714A>T
c.2822A>T (p.Asn941Ile)
n.2528A>T
c.3131A>T (p.Asn1044Ile)
n.3278A>T
c.2324A>T (p.Asn775Ile)
c.2711A>T (p.Asn904Ile)
c.2075A>T (p.Asn692Ile)
c.-865A>T (n.-865A>T)
5g.177211531C>ACA362322211NSD1c.2259C>A (p.Asn753Lys)
n.612+7239C>A
n.2715C>A
c.2823C>A (p.Asn941Lys)
n.2529C>A
c.3132C>A (p.Asn1044Lys)
n.3279C>A
c.2325C>A (p.Asn775Lys)
c.2712C>A (p.Asn904Lys)
c.2076C>A (p.Asn692Lys)
c.-864C>A (n.-864C>A)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177211531C=CA1603478093NSD1c.2259C= (p.Asn753=)
n.612+7239C=
n.2715C=
c.2823C= (p.Asn941=)
n.2529C=
c.3132C= (p.Asn1044=)
n.3279C=
c.2325C= (p.Asn775=)
c.2712C= (p.Asn904=)
c.2076C= (p.Asn692=)
c.-864C= (n.-864C=)
5g.177211531C>GCA362322209NSD1c.2259C>G (p.Asn753Lys)
n.612+7239C>G
n.2715C>G
c.2823C>G (p.Asn941Lys)
n.2529C>G
c.3132C>G (p.Asn1044Lys)
n.3279C>G
c.2325C>G (p.Asn775Lys)
c.2712C>G (p.Asn904Lys)
c.2076C>G (p.Asn692Lys)
c.-864C>G (n.-864C>G)
5g.177211531C>TCA447960916NSD1c.2259C>T (p.Asn753=)
n.612+7239C>T
n.2715C>T
c.2823C>T (p.Asn941=)
n.2529C>T
c.3132C>T (p.Asn1044=)
n.3279C>T
c.2325C>T (p.Asn775=)
c.2712C>T (p.Asn904=)
c.2076C>T (p.Asn692=)
c.-864C>T (n.-864C>T)
5g.177211532C>ACA362322214NSD1c.2260C>A (p.Arg754Ser)
n.612+7240C>A
n.2716C>A
c.2824C>A (p.Arg942Ser)
n.2530C>A
c.3133C>A (p.Arg1045Ser)
n.3280C>A
c.2326C>A (p.Arg776Ser)
c.2713C>A (p.Arg905Ser)
c.2077C>A (p.Arg693Ser)
c.-863C>A (n.-863C>A)
gnomAD v4
5g.177211532C=CA1603478100NSD1c.2260C= (p.Arg754=)
n.612+7240C=
n.2716C=
c.2824C= (p.Arg942=)
n.2530C=
c.3133C= (p.Arg1045=)
n.3280C=
c.2326C= (p.Arg776=)
c.2713C= (p.Arg905=)
c.2077C= (p.Arg693=)
c.-863C= (n.-863C=)
5g.177211532C>GCA362322218NSD1c.2260C>G (p.Arg754Gly)
n.612+7240C>G
n.2716C>G
c.2824C>G (p.Arg942Gly)
n.2530C>G
c.3133C>G (p.Arg1045Gly)
n.3280C>G
c.2326C>G (p.Arg776Gly)
c.2713C>G (p.Arg905Gly)
c.2077C>G (p.Arg693Gly)
c.-863C>G (n.-863C>G)
5g.177211532C>TCA3577384NSD1c.2260C>T (p.Arg754Cys)
n.612+7240C>T
n.2716C>T
c.2824C>T (p.Arg942Cys)
n.2530C>T
c.3133C>T (p.Arg1045Cys)
n.3280C>T
c.2326C>T (p.Arg776Cys)
c.2713C>T (p.Arg905Cys)
c.2077C>T (p.Arg693Cys)
c.-863C>T (n.-863C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211533G>ACA362322220NSD1c.2261G>A (p.Arg754His)
n.612+7241G>A
n.2717G>A
c.2825G>A (p.Arg942His)
n.2531G>A
c.3134G>A (p.Arg1045His)
n.3281G>A
c.2327G>A (p.Arg776His)
c.2714G>A (p.Arg905His)
c.2078G>A (p.Arg693His)
c.-862G>A (n.-862G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211533G>CCA362322224NSD1c.2261G>C (p.Arg754Pro)
n.612+7241G>C
n.2717G>C
c.2825G>C (p.Arg942Pro)
n.2531G>C
c.3134G>C (p.Arg1045Pro)
n.3281G>C
c.2327G>C (p.Arg776Pro)
c.2714G>C (p.Arg905Pro)
c.2078G>C (p.Arg693Pro)
c.-862G>C (n.-862G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211533G=CA1603478115NSD1c.2261G= (p.Arg754=)
n.612+7241G=
n.2717G=
c.2825G= (p.Arg942=)
n.2531G=
c.3134G= (p.Arg1045=)
n.3281G=
c.2327G= (p.Arg776=)
c.2714G= (p.Arg905=)
c.2078G= (p.Arg693=)
c.-862G= (n.-862G=)
5g.177211533G>TCA362322222NSD1c.2261G>T (p.Arg754Leu)
n.612+7241G>T
n.2717G>T
c.2825G>T (p.Arg942Leu)
n.2531G>T
c.3134G>T (p.Arg1045Leu)
n.3281G>T
c.2327G>T (p.Arg776Leu)
c.2714G>T (p.Arg905Leu)
c.2078G>T (p.Arg693Leu)
c.-862G>T (n.-862G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211534T>ACA447960918NSD1c.2262T>A (p.Arg754=)
n.612+7242T>A
n.2718T>A
c.2826T>A (p.Arg942=)
n.2532T>A
c.3135T>A (p.Arg1045=)
n.3282T>A
c.2328T>A (p.Arg776=)
c.2715T>A (p.Arg905=)
c.2079T>A (p.Arg693=)
c.-861T>A (n.-861T>A)
dbSNP
5g.177211534T>CCA447960920NSD1c.2262T>C (p.Arg754=)
n.612+7242T>C
n.2718T>C
c.2826T>C (p.Arg942=)
n.2532T>C
c.3135T>C (p.Arg1045=)
n.3282T>C
c.2328T>C (p.Arg776=)
c.2715T>C (p.Arg905=)
c.2079T>C (p.Arg693=)
c.-861T>C (n.-861T>C)
5g.177211534T>GCA447960921NSD1c.2262T>G (p.Arg754=)
n.612+7242T>G
n.2718T>G
c.2826T>G (p.Arg942=)
n.2532T>G
c.3135T>G (p.Arg1045=)
n.3282T>G
c.2328T>G (p.Arg776=)
c.2715T>G (p.Arg905=)
c.2079T>G (p.Arg693=)
c.-861T>G (n.-861T>G)
5g.177211535A>CCA362322228NSD1c.2263A>C (p.Lys755Gln)
n.612+7243A>C
n.2719A>C
c.2827A>C (p.Lys943Gln)
n.2533A>C
c.3136A>C (p.Lys1046Gln)
n.3283A>C
c.2329A>C (p.Lys777Gln)
c.2716A>C (p.Lys906Gln)
c.2080A>C (p.Lys694Gln)
c.-860A>C (n.-860A>C)
5g.177211535A>GCA362322231NSD1c.2263A>G (p.Lys755Glu)
n.612+7243A>G
n.2719A>G
c.2827A>G (p.Lys943Glu)
n.2533A>G
c.3136A>G (p.Lys1046Glu)
n.3283A>G
c.2329A>G (p.Lys777Glu)
c.2716A>G (p.Lys906Glu)
c.2080A>G (p.Lys694Glu)
c.-860A>G (n.-860A>G)
5g.177211535A>TCA362322233NSD1c.2263A>T (p.Lys755Ter)
n.612+7243A>T
n.2719A>T
c.2827A>T (p.Lys943Ter)
n.2533A>T
c.3136A>T (p.Lys1046Ter)
n.3283A>T
c.2329A>T (p.Lys777Ter)
c.2716A>T (p.Lys906Ter)
c.2080A>T (p.Lys694Ter)
c.-860A>T (n.-860A>T)
5g.177211537delCA2711100536NSD1c.2265del (p.Ala756ProfsTer2)
n.612+7245del
n.2721del
c.2829del (p.Ala944ProfsTer2)
n.2535del
c.3138del (p.Ala1047ProfsTer2)
n.3285del
c.2331del (p.Ala778ProfsTer2)
c.2718del (p.Ala907ProfsTer2)
c.2082del (p.Ala695ProfsTer2)
c.-858del (n.-858del)
dbSNP
5g.177211536A>CCA362322236NSD1c.2264A>C (p.Lys755Thr)
n.612+7244A>C
n.2720A>C
c.2828A>C (p.Lys943Thr)
n.2534A>C
c.3137A>C (p.Lys1046Thr)
n.3284A>C
c.2330A>C (p.Lys777Thr)
c.2717A>C (p.Lys906Thr)
c.2081A>C (p.Lys694Thr)
c.-859A>C (n.-859A>C)
5g.177211536A>GCA362322238NSD1c.2264A>G (p.Lys755Arg)
n.612+7244A>G
n.2720A>G
c.2828A>G (p.Lys943Arg)
n.2534A>G
c.3137A>G (p.Lys1046Arg)
n.3284A>G
c.2330A>G (p.Lys777Arg)
c.2717A>G (p.Lys906Arg)
c.2081A>G (p.Lys694Arg)
c.-859A>G (n.-859A>G)
dbSNP
5g.177211536A>TCA362322240NSD1c.2264A>T (p.Lys755Ile)
n.612+7244A>T
n.2720A>T
c.2828A>T (p.Lys943Ile)
n.2534A>T
c.3137A>T (p.Lys1046Ile)
n.3284A>T
c.2330A>T (p.Lys777Ile)
c.2717A>T (p.Lys906Ile)
c.2081A>T (p.Lys694Ile)
c.-859A>T (n.-859A>T)
5g.177211537A=CA1603478147NSD1c.2265A= (p.Lys755=)
n.612+7245A=
n.2721A=
c.2829A= (p.Lys943=)
n.2535A=
c.3138A= (p.Lys1046=)
n.3285A=
c.2331A= (p.Lys777=)
c.2718A= (p.Lys906=)
c.2082A= (p.Lys694=)
c.-858A= (n.-858A=)
5g.177211537A>CCA362322242NSD1c.2265A>C (p.Lys755Asn)
n.612+7245A>C
n.2721A>C
c.2829A>C (p.Lys943Asn)
n.2535A>C
c.3138A>C (p.Lys1046Asn)
n.3285A>C
c.2331A>C (p.Lys777Asn)
c.2718A>C (p.Lys906Asn)
c.2082A>C (p.Lys694Asn)
c.-858A>C (n.-858A>C)
dbSNP gnomAD v2 gnomAD v4
5g.177211537A>GCA132831057NSD1c.2265A>G (p.Lys755=)
n.612+7245A>G
n.2721A>G
c.2829A>G (p.Lys943=)
n.2535A>G
c.3138A>G (p.Lys1046=)
n.3285A>G
c.2331A>G (p.Lys777=)
c.2718A>G (p.Lys906=)
c.2082A>G (p.Lys694=)
c.-858A>G (n.-858A>G)
dbSNP gnomAD v2
5g.177211537A>TCA3577385NSD1c.2265A>T (p.Lys755Asn)
n.612+7245A>T
n.2721A>T
c.2829A>T (p.Lys943Asn)
n.2535A>T
c.3138A>T (p.Lys1046Asn)
n.3285A>T
c.2331A>T (p.Lys777Asn)
c.2718A>T (p.Lys906Asn)
c.2082A>T (p.Lys694Asn)
c.-858A>T (n.-858A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211538G>ACA362322245NSD1c.2266G>A (p.Ala756Thr)
n.612+7246G>A
n.2722G>A
c.2830G>A (p.Ala944Thr)
n.2536G>A
c.3139G>A (p.Ala1047Thr)
n.3286G>A
c.2332G>A (p.Ala778Thr)
c.2719G>A (p.Ala907Thr)
c.2083G>A (p.Ala695Thr)
c.-857G>A (n.-857G>A)
5g.177211538G>CCA362322247NSD1c.2266G>C (p.Ala756Pro)
n.612+7246G>C
n.2722G>C
c.2830G>C (p.Ala944Pro)
n.2536G>C
c.3139G>C (p.Ala1047Pro)
n.3286G>C
c.2332G>C (p.Ala778Pro)
c.2719G>C (p.Ala907Pro)
c.2083G>C (p.Ala695Pro)
c.-857G>C (n.-857G>C)
5g.177211538G>TCA362322249NSD1c.2266G>T (p.Ala756Ser)
n.612+7246G>T
n.2722G>T
c.2830G>T (p.Ala944Ser)
n.2536G>T
c.3139G>T (p.Ala1047Ser)
n.3286G>T
c.2332G>T (p.Ala778Ser)
c.2719G>T (p.Ala907Ser)
c.2083G>T (p.Ala695Ser)
c.-857G>T (n.-857G>T)
5g.177211539C>ACA362322257NSD1c.2267C>A (p.Ala756Asp)
n.612+7247C>A
n.2723C>A
c.2831C>A (p.Ala944Asp)
n.2537C>A
c.3140C>A (p.Ala1047Asp)
n.3287C>A
c.2333C>A (p.Ala778Asp)
c.2720C>A (p.Ala907Asp)
c.2084C>A (p.Ala695Asp)
c.-856C>A (n.-856C>A)
dbSNP
5g.177211539C=CA1603478156NSD1c.2267C= (p.Ala756=)
n.612+7247C=
n.2723C=
c.2831C= (p.Ala944=)
n.2537C=
c.3140C= (p.Ala1047=)
n.3287C=
c.2333C= (p.Ala778=)
c.2720C= (p.Ala907=)
c.2084C= (p.Ala695=)
c.-856C= (n.-856C=)
5g.177211539C>GCA362322254NSD1c.2267C>G (p.Ala756Gly)
n.612+7247C>G
n.2723C>G
c.2831C>G (p.Ala944Gly)
n.2537C>G
c.3140C>G (p.Ala1047Gly)
n.3287C>G
c.2333C>G (p.Ala778Gly)
c.2720C>G (p.Ala907Gly)
c.2084C>G (p.Ala695Gly)
c.-856C>G (n.-856C>G)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177211539C>TCA362322252NSD1c.2267C>T (p.Ala756Val)
n.612+7247C>T
n.2723C>T
c.2831C>T (p.Ala944Val)
n.2537C>T
c.3140C>T (p.Ala1047Val)
n.3287C>T
c.2333C>T (p.Ala778Val)
c.2720C>T (p.Ala907Val)
c.2084C>T (p.Ala695Val)
c.-856C>T (n.-856C>T)
dbSNP gnomAD v2
5g.177211540delCA2695202826NSD1c.2268del (p.Leu757Ter)
n.612+7248del
n.2724del
c.2832del (p.Leu945Ter)
n.2538del
c.3141del (p.Leu1048Ter)
n.3288del
c.2334del (p.Leu779Ter)
c.2721del (p.Leu908Ter)
c.2085del (p.Leu696Ter)
c.-855del (n.-855del)
5g.177211540C>ACA447960925NSD1c.2268C>A (p.Ala756=)
n.612+7248C>A
n.2724C>A
c.2832C>A (p.Ala944=)
n.2538C>A
c.3141C>A (p.Ala1047=)
n.3288C>A
c.2334C>A (p.Ala778=)
c.2721C>A (p.Ala907=)
c.2085C>A (p.Ala695=)
c.-855C>A (n.-855C>A)
5g.177211540C>GCA447960926NSD1c.2268C>G (p.Ala756=)
n.612+7248C>G
n.2724C>G
c.2832C>G (p.Ala944=)
n.2538C>G
c.3141C>G (p.Ala1047=)
n.3288C>G
c.2334C>G (p.Ala778=)
c.2721C>G (p.Ala907=)
c.2085C>G (p.Ala695=)
c.-855C>G (n.-855C>G)
5g.177211540C>TCA447960927NSD1c.2268C>T (p.Ala756=)
n.612+7248C>T
n.2724C>T
c.2832C>T (p.Ala944=)
n.2538C>T
c.3141C>T (p.Ala1047=)
n.3288C>T
c.2334C>T (p.Ala778=)
c.2721C>T (p.Ala907=)
c.2085C>T (p.Ala695=)
c.-855C>T (n.-855C>T)
5g.177211541T>ACA362322260NSD1c.2269T>A (p.Leu757Ile)
n.612+7249T>A
n.2725T>A
c.2833T>A (p.Leu945Ile)
n.2539T>A
c.3142T>A (p.Leu1048Ile)
n.3289T>A
c.2335T>A (p.Leu779Ile)
c.2722T>A (p.Leu908Ile)
c.2086T>A (p.Leu696Ile)
c.-854T>A (n.-854T>A)
5g.177211541T>CCA447960928NSD1c.2269T>C (p.Leu757=)
n.612+7249T>C
n.2725T>C
c.2833T>C (p.Leu945=)
n.2539T>C
c.3142T>C (p.Leu1048=)
n.3289T>C
c.2335T>C (p.Leu779=)
c.2722T>C (p.Leu908=)
c.2086T>C (p.Leu696=)
c.-854T>C (n.-854T>C)
5g.177211541T>GCA362322264NSD1c.2269T>G (p.Leu757Val)
n.612+7249T>G
n.2725T>G
c.2833T>G (p.Leu945Val)
n.2539T>G
c.3142T>G (p.Leu1048Val)
n.3289T>G
c.2335T>G (p.Leu779Val)
c.2722T>G (p.Leu908Val)
c.2086T>G (p.Leu696Val)
c.-854T>G (n.-854T>G)
gnomAD v4
5g.177211542T>ACA362322268NSD1c.2270T>A (p.Leu757Ter)
n.612+7250T>A
n.2726T>A
c.2834T>A (p.Leu945Ter)
n.2540T>A
c.3143T>A (p.Leu1048Ter)
n.3290T>A
c.2336T>A (p.Leu779Ter)
c.2723T>A (p.Leu908Ter)
c.2087T>A (p.Leu696Ter)
c.-853T>A (n.-853T>A)
5g.177211542T>CCA362322271NSD1c.2270T>C (p.Leu757Ser)
n.612+7250T>C
n.2726T>C
c.2834T>C (p.Leu945Ser)
n.2540T>C
c.3143T>C (p.Leu1048Ser)
n.3290T>C
c.2336T>C (p.Leu779Ser)
c.2723T>C (p.Leu908Ser)
c.2087T>C (p.Leu696Ser)
c.-853T>C (n.-853T>C)
5g.177211542T>GCA362322274NSD1c.2270T>G (p.Leu757Ter)
n.612+7250T>G
n.2726T>G
c.2834T>G (p.Leu945Ter)
n.2540T>G
c.3143T>G (p.Leu1048Ter)
n.3290T>G
c.2336T>G (p.Leu779Ter)
c.2723T>G (p.Leu908Ter)
c.2087T>G (p.Leu696Ter)
c.-853T>G (n.-853T>G)
5g.177211542T=CA1603478162NSD1c.2270T= (p.Leu757=)
n.612+7250T=
n.2726T=
c.2834T= (p.Leu945=)
n.2540T=
c.3143T= (p.Leu1048=)
n.3290T=
c.2336T= (p.Leu779=)
c.2723T= (p.Leu908=)
c.2087T= (p.Leu696=)
c.-853T= (n.-853T=)
5g.177211543A=CA1603478175NSD1c.2271A= (p.Leu757=)
n.612+7251A=
n.2727A=
c.2835A= (p.Leu945=)
n.2541A=
c.3144A= (p.Leu1048=)
n.3291A=
c.2337A= (p.Leu779=)
c.2724A= (p.Leu908=)
c.2088A= (p.Leu696=)
c.-852A= (n.-852A=)
5g.177211543A>CCA362322279NSD1c.2271A>C (p.Leu757Phe)
n.612+7251A>C
n.2727A>C
c.2835A>C (p.Leu945Phe)
n.2541A>C
c.3144A>C (p.Leu1048Phe)
n.3291A>C
c.2337A>C (p.Leu779Phe)
c.2724A>C (p.Leu908Phe)
c.2088A>C (p.Leu696Phe)
c.-852A>C (n.-852A>C)
5g.177211543A>GCA447960932NSD1c.2271A>G (p.Leu757=)
n.612+7251A>G
n.2727A>G
c.2835A>G (p.Leu945=)
n.2541A>G
c.3144A>G (p.Leu1048=)
n.3291A>G
c.2337A>G (p.Leu779=)
c.2724A>G (p.Leu908=)
c.2088A>G (p.Leu696=)
c.-852A>G (n.-852A>G)
dbSNP gnomAD v2 gnomAD v4
5g.177211543A>TCA362322282NSD1c.2271A>T (p.Leu757Phe)
n.612+7251A>T
n.2727A>T
c.2835A>T (p.Leu945Phe)
n.2541A>T
c.3144A>T (p.Leu1048Phe)
n.3291A>T
c.2337A>T (p.Leu779Phe)
c.2724A>T (p.Leu908Phe)
c.2088A>T (p.Leu696Phe)
c.-852A>T (n.-852A>T)
5g.177211545dupCA319747NSD1c.2273dup (p.Thr759AspfsTer16)
n.612+7253dup
n.2729dup
c.2837dup (p.Thr947AspfsTer16)
n.2543dup
c.3146dup (p.Thr1050AspfsTer16)
n.3293dup
c.2339dup (p.Thr781AspfsTer16)
c.2726dup (p.Thr910AspfsTer16)
c.2090dup (p.Thr698AspfsTer16)
c.-850dup (n.-850dup)
ClinVar dbSNP
5g.177211544_177211545dupCA2499217771NSD1c.2272_2273dup (p.Thr759ArgfsTer8)
n.612+7252_612+7253dup
n.2728_2729dup
c.2836_2837dup (p.Thr947ArgfsTer8)
n.2542_2543dup
c.3145_3146dup (p.Thr1050ArgfsTer8)
n.3292_3293dup
c.2338_2339dup (p.Thr781ArgfsTer8)
c.2725_2726dup (p.Thr910ArgfsTer8)
c.2089_2090dup (p.Thr698ArgfsTer8)
c.-851_-850dup (n.-851_-850dup)
ClinVar dbSNP
5g.177211544A>CCA362322287NSD1c.2272A>C (p.Lys758Gln)
n.612+7252A>C
n.2728A>C
c.2836A>C (p.Lys946Gln)
n.2542A>C
c.3145A>C (p.Lys1049Gln)
n.3292A>C
c.2338A>C (p.Lys780Gln)
c.2725A>C (p.Lys909Gln)
c.2089A>C (p.Lys697Gln)
c.-851A>C (n.-851A>C)
5g.177211544A>GCA362322290NSD1c.2272A>G (p.Lys758Glu)
n.612+7252A>G
n.2728A>G
c.2836A>G (p.Lys946Glu)
n.2542A>G
c.3145A>G (p.Lys1049Glu)
n.3292A>G
c.2338A>G (p.Lys780Glu)
c.2725A>G (p.Lys909Glu)
c.2089A>G (p.Lys697Glu)
c.-851A>G (n.-851A>G)
5g.177211544A>TCA362322293NSD1c.2272A>T (p.Lys758Ter)
n.612+7252A>T
n.2728A>T
c.2836A>T (p.Lys946Ter)
n.2542A>T
c.3145A>T (p.Lys1049Ter)
n.3292A>T
c.2338A>T (p.Lys780Ter)
c.2725A>T (p.Lys909Ter)
c.2089A>T (p.Lys697Ter)
c.-851A>T (n.-851A>T)
5g.177211545A>CCA362322296NSD1c.2273A>C (p.Lys758Thr)
n.612+7253A>C
n.2729A>C
c.2837A>C (p.Lys946Thr)
n.2543A>C
c.3146A>C (p.Lys1049Thr)
n.3293A>C
c.2339A>C (p.Lys780Thr)
c.2726A>C (p.Lys909Thr)
c.2090A>C (p.Lys697Thr)
c.-850A>C (n.-850A>C)
5g.177211545A>GCA362322299NSD1c.2273A>G (p.Lys758Arg)
n.612+7253A>G
n.2729A>G
c.2837A>G (p.Lys946Arg)
n.2543A>G
c.3146A>G (p.Lys1049Arg)
n.3293A>G
c.2339A>G (p.Lys780Arg)
c.2726A>G (p.Lys909Arg)
c.2090A>G (p.Lys697Arg)
c.-850A>G (n.-850A>G)
5g.177211545A>TCA362322301NSD1c.2273A>T (p.Lys758Met)
n.612+7253A>T
n.2729A>T
c.2837A>T (p.Lys946Met)
n.2543A>T
c.3146A>T (p.Lys1049Met)
n.3293A>T
c.2339A>T (p.Lys780Met)
c.2726A>T (p.Lys909Met)
c.2090A>T (p.Lys697Met)
c.-850A>T (n.-850A>T)
5g.177211546G>ACA447960934NSD1c.2274G>A (p.Lys758=)
n.612+7254G>A
n.2730G>A
c.2838G>A (p.Lys946=)
n.2544G>A
c.3147G>A (p.Lys1049=)
n.3294G>A
c.2340G>A (p.Lys780=)
c.2727G>A (p.Lys909=)
c.2091G>A (p.Lys697=)
c.-849G>A (n.-849G>A)
5g.177211546G>CCA362322304NSD1c.2274G>C (p.Lys758Asn)
n.612+7254G>C
n.2730G>C
c.2838G>C (p.Lys946Asn)
n.2544G>C
c.3147G>C (p.Lys1049Asn)
n.3294G>C
c.2340G>C (p.Lys780Asn)
c.2727G>C (p.Lys909Asn)
c.2091G>C (p.Lys697Asn)
c.-849G>C (n.-849G>C)
5g.177211546G>TCA362322306NSD1c.2274G>T (p.Lys758Asn)
n.612+7254G>T
n.2730G>T
c.2838G>T (p.Lys946Asn)
n.2544G>T
c.3147G>T (p.Lys1049Asn)
n.3294G>T
c.2340G>T (p.Lys780Asn)
c.2727G>T (p.Lys909Asn)
c.2091G>T (p.Lys697Asn)
c.-849G>T (n.-849G>T)
5g.177211547A>CCA362322310NSD1c.2275A>C (p.Thr759Pro)
n.612+7255A>C
n.2731A>C
c.2839A>C (p.Thr947Pro)
n.2545A>C
c.3148A>C (p.Thr1050Pro)
n.3295A>C
c.2341A>C (p.Thr781Pro)
c.2728A>C (p.Thr910Pro)
c.2092A>C (p.Thr698Pro)
c.-848A>C (n.-848A>C)
5g.177211547A>GCA362322312NSD1c.2275A>G (p.Thr759Ala)
n.612+7255A>G
n.2731A>G
c.2839A>G (p.Thr947Ala)
n.2545A>G
c.3148A>G (p.Thr1050Ala)
n.3295A>G
c.2341A>G (p.Thr781Ala)
c.2728A>G (p.Thr910Ala)
c.2092A>G (p.Thr698Ala)
c.-848A>G (n.-848A>G)
5g.177211547A>TCA362322315NSD1c.2275A>T (p.Thr759Ser)
n.612+7255A>T
n.2731A>T
c.2839A>T (p.Thr947Ser)
n.2545A>T
c.3148A>T (p.Thr1050Ser)
n.3295A>T
c.2341A>T (p.Thr781Ser)
c.2728A>T (p.Thr910Ser)
c.2092A>T (p.Thr698Ser)
c.-848A>T (n.-848A>T)
5g.177211548C>ACA362322319NSD1c.2276C>A (p.Thr759Asn)
n.612+7256C>A
n.2732C>A
c.2840C>A (p.Thr947Asn)
n.2546C>A
c.3149C>A (p.Thr1050Asn)
n.3296C>A
c.2342C>A (p.Thr781Asn)
c.2729C>A (p.Thr910Asn)
c.2093C>A (p.Thr698Asn)
c.-847C>A (n.-847C>A)
dbSNP
5g.177211548C>GCA362322322NSD1c.2276C>G (p.Thr759Ser)
n.612+7256C>G
n.2732C>G
c.2840C>G (p.Thr947Ser)
n.2546C>G
c.3149C>G (p.Thr1050Ser)
n.3296C>G
c.2342C>G (p.Thr781Ser)
c.2729C>G (p.Thr910Ser)
c.2093C>G (p.Thr698Ser)
c.-847C>G (n.-847C>G)
dbSNP
5g.177211548C>TCA362322323NSD1c.2276C>T (p.Thr759Ile)
n.612+7256C>T
n.2732C>T
c.2840C>T (p.Thr947Ile)
n.2546C>T
c.3149C>T (p.Thr1050Ile)
n.3296C>T
c.2342C>T (p.Thr781Ile)
c.2729C>T (p.Thr910Ile)
c.2093C>T (p.Thr698Ile)
c.-847C>T (n.-847C>T)
gnomAD v4
5g.177211549C>ACA447960941NSD1c.2277C>A (p.Thr759=)
n.612+7257C>A
n.2733C>A
c.2841C>A (p.Thr947=)
n.2547C>A
c.3150C>A (p.Thr1050=)
n.3297C>A
c.2343C>A (p.Thr781=)
c.2730C>A (p.Thr910=)
c.2094C>A (p.Thr698=)
c.-846C>A (n.-846C>A)
dbSNP gnomAD v4
5g.177211549C=CA1603478179NSD1c.2277C= (p.Thr759=)
n.612+7257C=
n.2733C=
c.2841C= (p.Thr947=)
n.2547C=
c.3150C= (p.Thr1050=)
n.3297C=
c.2343C= (p.Thr781=)
c.2730C= (p.Thr910=)
c.2094C= (p.Thr698=)
c.-846C= (n.-846C=)
5g.177211549C>GCA447960942NSD1c.2277C>G (p.Thr759=)
n.612+7257C>G
n.2733C>G
c.2841C>G (p.Thr947=)
n.2547C>G
c.3150C>G (p.Thr1050=)
n.3297C>G
c.2343C>G (p.Thr781=)
c.2730C>G (p.Thr910=)
c.2094C>G (p.Thr698=)
c.-846C>G (n.-846C>G)
5g.177211549C>TCA223667NSD1c.2277C>T (p.Thr759=)
n.612+7257C>T
n.2733C>T
c.2841C>T (p.Thr947=)
n.2547C>T
c.3150C>T (p.Thr1050=)
n.3297C>T
c.2343C>T (p.Thr781=)
c.2730C>T (p.Thr910=)
c.2094C>T (p.Thr698=)
c.-846C>T (n.-846C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211550G>ACA3577386NSD1c.2278G>A (p.Glu760Lys)
n.612+7258G>A
n.2734G>A
c.2842G>A (p.Glu948Lys)
n.2548G>A
c.3151G>A (p.Glu1051Lys)
n.3298G>A
c.2344G>A (p.Glu782Lys)
c.2731G>A (p.Glu911Lys)
c.2095G>A (p.Glu699Lys)
c.-845G>A (n.-845G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211550G>CCA362322327NSD1c.2278G>C (p.Glu760Gln)
n.612+7258G>C
n.2734G>C
c.2842G>C (p.Glu948Gln)
n.2548G>C
c.3151G>C (p.Glu1051Gln)
n.3298G>C
c.2344G>C (p.Glu782Gln)
c.2731G>C (p.Glu911Gln)
c.2095G>C (p.Glu699Gln)
c.-845G>C (n.-845G>C)
5g.177211550G=CA1603478183NSD1c.2278G= (p.Glu760=)
n.612+7258G=
n.2734G=
c.2842G= (p.Glu948=)
n.2548G=
c.3151G= (p.Glu1051=)
n.3298G=
c.2344G= (p.Glu782=)
c.2731G= (p.Glu911=)
c.2095G= (p.Glu699=)
c.-845G= (n.-845G=)
5g.177211550G>TCA362322329NSD1c.2278G>T (p.Glu760Ter)
n.612+7258G>T
n.2734G>T
c.2842G>T (p.Glu948Ter)
n.2548G>T
c.3151G>T (p.Glu1051Ter)
n.3298G>T
c.2344G>T (p.Glu782Ter)
c.2731G>T (p.Glu911Ter)
c.2095G>T (p.Glu699Ter)
c.-845G>T (n.-845G>T)
5g.177211551A>CCA362322332NSD1c.2279A>C (p.Glu760Ala)
n.612+7259A>C
n.2735A>C
c.2843A>C (p.Glu948Ala)
n.2549A>C
c.3152A>C (p.Glu1051Ala)
n.3299A>C
c.2345A>C (p.Glu782Ala)
c.2732A>C (p.Glu911Ala)
c.2096A>C (p.Glu699Ala)
c.-844A>C (n.-844A>C)
5g.177211551A>GCA362322333NSD1c.2279A>G (p.Glu760Gly)
n.612+7259A>G
n.2735A>G
c.2843A>G (p.Glu948Gly)
n.2549A>G
c.3152A>G (p.Glu1051Gly)
n.3299A>G
c.2345A>G (p.Glu782Gly)
c.2732A>G (p.Glu911Gly)
c.2096A>G (p.Glu699Gly)
c.-844A>G (n.-844A>G)
5g.177211551A>TCA362322334NSD1c.2279A>T (p.Glu760Val)
n.612+7259A>T
n.2735A>T
c.2843A>T (p.Glu948Val)
n.2549A>T
c.3152A>T (p.Glu1051Val)
n.3299A>T
c.2345A>T (p.Glu782Val)
c.2732A>T (p.Glu911Val)
c.2096A>T (p.Glu699Val)
c.-844A>T (n.-844A>T)
5g.177211552G>ACA447960947NSD1c.2280G>A (p.Glu760=)
n.612+7260G>A
n.2736G>A
c.2844G>A (p.Glu948=)
n.2550G>A
c.3153G>A (p.Glu1051=)
n.3300G>A
c.2346G>A (p.Glu782=)
c.2733G>A (p.Glu911=)
c.2097G>A (p.Glu699=)
c.-843G>A (n.-843G>A)
5g.177211552G>CCA362322337NSD1c.2280G>C (p.Glu760Asp)
n.612+7260G>C
n.2736G>C
c.2844G>C (p.Glu948Asp)
n.2550G>C
c.3153G>C (p.Glu1051Asp)
n.3300G>C
c.2346G>C (p.Glu782Asp)
c.2733G>C (p.Glu911Asp)
c.2097G>C (p.Glu699Asp)
c.-843G>C (n.-843G>C)
5g.177211552G=CA1603478187NSD1c.2280G= (p.Glu760=)
n.612+7260G=
n.2736G=
c.2844G= (p.Glu948=)
n.2550G=
c.3153G= (p.Glu1051=)
n.3300G=
c.2346G= (p.Glu782=)
c.2733G= (p.Glu911=)
c.2097G= (p.Glu699=)
c.-843G= (n.-843G=)
5g.177211552G>TCA362322336NSD1c.2280G>T (p.Glu760Asp)
n.612+7260G>T
n.2736G>T
c.2844G>T (p.Glu948Asp)
n.2550G>T
c.3153G>T (p.Glu1051Asp)
n.3300G>T
c.2346G>T (p.Glu782Asp)
c.2733G>T (p.Glu911Asp)
c.2097G>T (p.Glu699Asp)
c.-843G>T (n.-843G>T)
dbSNP
5g.177211553C>ACA362322338NSD1c.2281C>A (p.Arg761Ser)
n.612+7261C>A
n.2737C>A
c.2845C>A (p.Arg949Ser)
n.2551C>A
c.3154C>A (p.Arg1052Ser)
n.3301C>A
c.2347C>A (p.Arg783Ser)
c.2734C>A (p.Arg912Ser)
c.2098C>A (p.Arg700Ser)
c.-842C>A (n.-842C>A)
dbSNP
5g.177211553C=CA1603478195NSD1c.2281C= (p.Arg761=)
n.612+7261C=
n.2737C=
c.2845C= (p.Arg949=)
n.2551C=
c.3154C= (p.Arg1052=)
n.3301C=
c.2347C= (p.Arg783=)
c.2734C= (p.Arg912=)
c.2098C= (p.Arg700=)
c.-842C= (n.-842C=)
5g.177211553C>GCA362322340NSD1c.2281C>G (p.Arg761Gly)
n.612+7261C>G
n.2737C>G
c.2845C>G (p.Arg949Gly)
n.2551C>G
c.3154C>G (p.Arg1052Gly)
n.3301C>G
c.2347C>G (p.Arg783Gly)
c.2734C>G (p.Arg912Gly)
c.2098C>G (p.Arg700Gly)
c.-842C>G (n.-842C>G)
5g.177211553C>TCA203122NSD1c.2281C>T (p.Arg761Cys)
n.612+7261C>T
n.2737C>T
c.2845C>T (p.Arg949Cys)
n.2551C>T
c.3154C>T (p.Arg1052Cys)
n.3301C>T
c.2347C>T (p.Arg783Cys)
c.2734C>T (p.Arg912Cys)
c.2098C>T (p.Arg700Cys)
c.-842C>T (n.-842C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211554G>ACA362322345NSD1c.2282G>A (p.Arg761His)
n.612+7262G>A
n.2738G>A
c.2846G>A (p.Arg949His)
n.2552G>A
c.3155G>A (p.Arg1052His)
n.3302G>A
c.2348G>A (p.Arg783His)
c.2735G>A (p.Arg912His)
c.2099G>A (p.Arg700His)
c.-841G>A (n.-841G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177211554G>CCA362322347NSD1c.2282G>C (p.Arg761Pro)
n.612+7262G>C
n.2738G>C
c.2846G>C (p.Arg949Pro)
n.2552G>C
c.3155G>C (p.Arg1052Pro)
n.3302G>C
c.2348G>C (p.Arg783Pro)
c.2735G>C (p.Arg912Pro)
c.2099G>C (p.Arg700Pro)
c.-841G>C (n.-841G>C)
5g.177211554G=CA1603478204NSD1c.2282G= (p.Arg761=)
n.612+7262G=
n.2738G=
c.2846G= (p.Arg949=)
n.2552G=
c.3155G= (p.Arg1052=)
n.3302G=
c.2348G= (p.Arg783=)
c.2735G= (p.Arg912=)
c.2099G= (p.Arg700=)
c.-841G= (n.-841G=)
5g.177211554G>TCA362322349NSD1c.2282G>T (p.Arg761Leu)
n.612+7262G>T
n.2738G>T
c.2846G>T (p.Arg949Leu)
n.2552G>T
c.3155G>T (p.Arg1052Leu)
n.3302G>T
c.2348G>T (p.Arg783Leu)
c.2735G>T (p.Arg912Leu)
c.2099G>T (p.Arg700Leu)
c.-841G>T (n.-841G>T)
5g.177211555C>ACA447960952NSD1c.2283C>A (p.Arg761=)
n.612+7263C>A
n.2739C>A
c.2847C>A (p.Arg949=)
n.2553C>A
c.3156C>A (p.Arg1052=)
n.3303C>A
c.2349C>A (p.Arg783=)
c.2736C>A (p.Arg912=)
c.2100C>A (p.Arg700=)
c.-840C>A (n.-840C>A)
5g.177211555C>GCA447960951NSD1c.2283C>G (p.Arg761=)
n.612+7263C>G
n.2739C>G
c.2847C>G (p.Arg949=)
n.2553C>G
c.3156C>G (p.Arg1052=)
n.3303C>G
c.2349C>G (p.Arg783=)
c.2736C>G (p.Arg912=)
c.2100C>G (p.Arg700=)
c.-840C>G (n.-840C>G)
5g.177211555C>TCA447960950NSD1c.2283C>T (p.Arg761=)
n.612+7263C>T
n.2739C>T
c.2847C>T (p.Arg949=)
n.2553C>T
c.3156C>T (p.Arg1052=)
n.3303C>T
c.2349C>T (p.Arg783=)
c.2736C>T (p.Arg912=)
c.2100C>T (p.Arg700=)
c.-840C>T (n.-840C>T)
5g.177211556A=CA1603478206NSD1c.2284A= (p.Lys762=)
n.612+7264A=
n.2740A=
c.2848A= (p.Lys950=)
n.2554A=
c.3157A= (p.Lys1053=)
n.3304A=
c.2350A= (p.Lys784=)
c.2737A= (p.Lys913=)
c.2101A= (p.Lys701=)
c.-839A= (n.-839A=)
5g.177211556A>CCA3577387NSD1c.2284A>C (p.Lys762Gln)
n.612+7264A>C
n.2740A>C
c.2848A>C (p.Lys950Gln)
n.2554A>C
c.3157A>C (p.Lys1053Gln)
n.3304A>C
c.2350A>C (p.Lys784Gln)
c.2737A>C (p.Lys913Gln)
c.2101A>C (p.Lys701Gln)
c.-839A>C (n.-839A>C)
dbSNP ExAC gnomAD v2
5g.177211556A>GCA362322354NSD1c.2284A>G (p.Lys762Glu)
n.612+7264A>G
n.2740A>G
c.2848A>G (p.Lys950Glu)
n.2554A>G
c.3157A>G (p.Lys1053Glu)
n.3304A>G
c.2350A>G (p.Lys784Glu)
c.2737A>G (p.Lys913Glu)
c.2101A>G (p.Lys701Glu)
c.-839A>G (n.-839A>G)
gnomAD v4
5g.177211556A>TCA362322356NSD1c.2284A>T (p.Lys762Ter)
n.612+7264A>T
n.2740A>T
c.2848A>T (p.Lys950Ter)
n.2554A>T
c.3157A>T (p.Lys1053Ter)
n.3304A>T
c.2350A>T (p.Lys784Ter)
c.2737A>T (p.Lys913Ter)
c.2101A>T (p.Lys701Ter)
c.-839A>T (n.-839A>T)
5g.177211559delCA2695202827NSD1c.2287del (p.Arg763GlufsTer3)
n.612+7267del
n.2743del
c.2851del (p.Arg951GlufsTer3)
n.2557del
c.3160del (p.Arg1054GlufsTer3)
n.3307del
c.2353del (p.Arg785GlufsTer3)
c.2740del (p.Arg914GlufsTer3)
c.2104del (p.Arg702GlufsTer3)
c.-836del (n.-836del)
5g.177211557A>CCA362322357NSD1c.2285A>C (p.Lys762Thr)
n.612+7265A>C
n.2741A>C
c.2849A>C (p.Lys950Thr)
n.2555A>C
c.3158A>C (p.Lys1053Thr)
n.3305A>C
c.2351A>C (p.Lys784Thr)
c.2738A>C (p.Lys913Thr)
c.2102A>C (p.Lys701Thr)
c.-838A>C (n.-838A>C)
5g.177211557A>GCA362322359NSD1c.2285A>G (p.Lys762Arg)
n.612+7265A>G
n.2741A>G
c.2849A>G (p.Lys950Arg)
n.2555A>G
c.3158A>G (p.Lys1053Arg)
n.3305A>G
c.2351A>G (p.Lys784Arg)
c.2738A>G (p.Lys913Arg)
c.2102A>G (p.Lys701Arg)
c.-838A>G (n.-838A>G)
5g.177211557A>TCA362322360NSD1c.2285A>T (p.Lys762Ile)
n.612+7265A>T
n.2741A>T
c.2849A>T (p.Lys950Ile)
n.2555A>T
c.3158A>T (p.Lys1053Ile)
n.3305A>T
c.2351A>T (p.Lys784Ile)
c.2738A>T (p.Lys913Ile)
c.2102A>T (p.Lys701Ile)
c.-838A>T (n.-838A>T)
5g.177211558A>CCA362322363NSD1c.2286A>C (p.Lys762Asn)
n.612+7266A>C
n.2742A>C
c.2850A>C (p.Lys950Asn)
n.2556A>C
c.3159A>C (p.Lys1053Asn)
n.3306A>C
c.2352A>C (p.Lys784Asn)
c.2739A>C (p.Lys913Asn)
c.2103A>C (p.Lys701Asn)
c.-837A>C (n.-837A>C)
5g.177211558A>GCA447960954NSD1c.2286A>G (p.Lys762=)
n.612+7266A>G
n.2742A>G
c.2850A>G (p.Lys950=)
n.2556A>G
c.3159A>G (p.Lys1053=)
n.3306A>G
c.2352A>G (p.Lys784=)
c.2739A>G (p.Lys913=)
c.2103A>G (p.Lys701=)
c.-837A>G (n.-837A>G)
5g.177211558A>TCA362322365NSD1c.2286A>T (p.Lys762Asn)
n.612+7266A>T
n.2742A>T
c.2850A>T (p.Lys950Asn)
n.2556A>T
c.3159A>T (p.Lys1053Asn)
n.3306A>T
c.2352A>T (p.Lys784Asn)
c.2739A>T (p.Lys913Asn)
c.2103A>T (p.Lys701Asn)
c.-837A>T (n.-837A>T)
5g.177211559A>CCA447960955NSD1c.2287A>C (p.Arg763=)
n.612+7267A>C
n.2743A>C
c.2851A>C (p.Arg951=)
n.2557A>C
c.3160A>C (p.Arg1054=)
n.3307A>C
c.2353A>C (p.Arg785=)
c.2740A>C (p.Arg914=)
c.2104A>C (p.Arg702=)
c.-836A>C (n.-836A>C)
5g.177211559A>GCA362322367NSD1c.2287A>G (p.Arg763Gly)
n.612+7267A>G
n.2743A>G
c.2851A>G (p.Arg951Gly)
n.2557A>G
c.3160A>G (p.Arg1054Gly)
n.3307A>G
c.2353A>G (p.Arg785Gly)
c.2740A>G (p.Arg914Gly)
c.2104A>G (p.Arg702Gly)
c.-836A>G (n.-836A>G)
gnomAD v4
5g.177211559A>TCA362322369NSD1c.2287A>T (p.Arg763Ter)
n.612+7267A>T
n.2743A>T
c.2851A>T (p.Arg951Ter)
n.2557A>T
c.3160A>T (p.Arg1054Ter)
n.3307A>T
c.2353A>T (p.Arg785Ter)
c.2740A>T (p.Arg914Ter)
c.2104A>T (p.Arg702Ter)
c.-836A>T (n.-836A>T)
5g.177211560G>ACA362322374NSD1c.2288G>A (p.Arg763Lys)
n.612+7268G>A
n.2744G>A
c.2852G>A (p.Arg951Lys)
n.2558G>A
c.3161G>A (p.Arg1054Lys)
n.3308G>A
c.2354G>A (p.Arg785Lys)
c.2741G>A (p.Arg914Lys)
c.2105G>A (p.Arg702Lys)
c.-835G>A (n.-835G>A)
dbSNP
5g.177211560G>CCA362322378NSD1c.2288G>C (p.Arg763Thr)
n.612+7268G>C
n.2744G>C
c.2852G>C (p.Arg951Thr)
n.2558G>C
c.3161G>C (p.Arg1054Thr)
n.3308G>C
c.2354G>C (p.Arg785Thr)
c.2741G>C (p.Arg914Thr)
c.2105G>C (p.Arg702Thr)
c.-835G>C (n.-835G>C)
dbSNP COSMIC COSMIC
5g.177211560G>TCA362322376NSD1c.2288G>T (p.Arg763Ile)
n.612+7268G>T
n.2744G>T
c.2852G>T (p.Arg951Ile)
n.2558G>T
c.3161G>T (p.Arg1054Ile)
n.3308G>T
c.2354G>T (p.Arg785Ile)
c.2741G>T (p.Arg914Ile)
c.2105G>T (p.Arg702Ile)
c.-835G>T (n.-835G>T)
5g.177211561A=CA1603478218NSD1c.2289A= (p.Arg763=)
n.612+7269A=
n.2745A=
c.2853A= (p.Arg951=)
n.2559A=
c.3162A= (p.Arg1054=)
n.3309A=
c.2355A= (p.Arg785=)
c.2742A= (p.Arg914=)
c.2106A= (p.Arg702=)
c.-834A= (n.-834A=)
5g.177211561A>CCA362322380NSD1c.2289A>C (p.Arg763Ser)
n.612+7269A>C
n.2745A>C
c.2853A>C (p.Arg951Ser)
n.2559A>C
c.3162A>C (p.Arg1054Ser)
n.3309A>C
c.2355A>C (p.Arg785Ser)
c.2742A>C (p.Arg914Ser)
c.2106A>C (p.Arg702Ser)
c.-834A>C (n.-834A>C)
5g.177211561A>GCA447960956NSD1c.2289A>G (p.Arg763=)
n.612+7269A>G
n.2745A>G
c.2853A>G (p.Arg951=)
n.2559A>G
c.3162A>G (p.Arg1054=)
n.3309A>G
c.2355A>G (p.Arg785=)
c.2742A>G (p.Arg914=)
c.2106A>G (p.Arg702=)
c.-834A>G (n.-834A>G)
dbSNP
5g.177211561A>TCA362322384NSD1c.2289A>T (p.Arg763Ser)
n.612+7269A>T
n.2745A>T
c.2853A>T (p.Arg951Ser)
n.2559A>T
c.3162A>T (p.Arg1054Ser)
n.3309A>T
c.2355A>T (p.Arg785Ser)
c.2742A>T (p.Arg914Ser)
c.2106A>T (p.Arg702Ser)
c.-834A>T (n.-834A>T)
5g.177211562A=CA1603478220NSD1c.2290A= (p.Lys764=)
n.612+7270A=
n.2746A=
c.2854A= (p.Lys952=)
n.2560A=
c.3163A= (p.Lys1055=)
n.3310A=
c.2356A= (p.Lys786=)
c.2743A= (p.Lys915=)
c.2107A= (p.Lys703=)
c.-833A= (n.-833A=)
5g.177211562A>CCA362322388NSD1c.2290A>C (p.Lys764Gln)
n.612+7270A>C
n.2746A>C
c.2854A>C (p.Lys952Gln)
n.2560A>C
c.3163A>C (p.Lys1055Gln)
n.3310A>C
c.2356A>C (p.Lys786Gln)
c.2743A>C (p.Lys915Gln)
c.2107A>C (p.Lys703Gln)
c.-833A>C (n.-833A>C)
5g.177211562A>GCA362322390NSD1c.2290A>G (p.Lys764Glu)
n.612+7270A>G
n.2746A>G
c.2854A>G (p.Lys952Glu)
n.2560A>G
c.3163A>G (p.Lys1055Glu)
n.3310A>G
c.2356A>G (p.Lys786Glu)
c.2743A>G (p.Lys915Glu)
c.2107A>G (p.Lys703Glu)
c.-833A>G (n.-833A>G)
dbSNP gnomAD v2 gnomAD v4
5g.177211562A>TCA362322392NSD1c.2290A>T (p.Lys764Ter)
n.612+7270A>T
n.2746A>T
c.2854A>T (p.Lys952Ter)
n.2560A>T
c.3163A>T (p.Lys1055Ter)
n.3310A>T
c.2356A>T (p.Lys786Ter)
c.2743A>T (p.Lys915Ter)
c.2107A>T (p.Lys703Ter)
c.-833A>T (n.-833A>T)
5g.177211563A=CA1603478229NSD1c.2291A= (p.Lys764=)
n.612+7271A=
n.2747A=
c.2855A= (p.Lys952=)
n.2561A=
c.3164A= (p.Lys1055=)
n.3311A=
c.2357A= (p.Lys786=)
c.2744A= (p.Lys915=)
c.2108A= (p.Lys703=)
c.-832A= (n.-832A=)
5g.177211563A>CCA362322397NSD1c.2291A>C (p.Lys764Thr)
n.612+7271A>C
n.2747A>C
c.2855A>C (p.Lys952Thr)
n.2561A>C
c.3164A>C (p.Lys1055Thr)
n.3311A>C
c.2357A>C (p.Lys786Thr)
c.2744A>C (p.Lys915Thr)
c.2108A>C (p.Lys703Thr)
c.-832A>C (n.-832A>C)
5g.177211563A>GCA362322400NSD1c.2291A>G (p.Lys764Arg)
n.612+7271A>G
n.2747A>G
c.2855A>G (p.Lys952Arg)
n.2561A>G
c.3164A>G (p.Lys1055Arg)
n.3311A>G
c.2357A>G (p.Lys786Arg)
c.2744A>G (p.Lys915Arg)
c.2108A>G (p.Lys703Arg)
c.-832A>G (n.-832A>G)
dbSNP gnomAD v2 gnomAD v4
5g.177211563A>TCA362322402NSD1c.2291A>T (p.Lys764Ile)
n.612+7271A>T
n.2747A>T
c.2855A>T (p.Lys952Ile)
n.2561A>T
c.3164A>T (p.Lys1055Ile)
n.3311A>T
c.2357A>T (p.Lys786Ile)
c.2744A>T (p.Lys915Ile)
c.2108A>T (p.Lys703Ile)
c.-832A>T (n.-832A>T)
5g.177211564A>CCA362322407NSD1c.2292A>C (p.Lys764Asn)
n.612+7272A>C
n.2748A>C
c.2856A>C (p.Lys952Asn)
n.2562A>C
c.3165A>C (p.Lys1055Asn)
n.3312A>C
c.2358A>C (p.Lys786Asn)
c.2745A>C (p.Lys915Asn)
c.2109A>C (p.Lys703Asn)
c.-831A>C (n.-831A>C)
5g.177211564A>GCA447960958NSD1c.2292A>G (p.Lys764=)
n.612+7272A>G
n.2748A>G
c.2856A>G (p.Lys952=)
n.2562A>G
c.3165A>G (p.Lys1055=)
n.3312A>G
c.2358A>G (p.Lys786=)
c.2745A>G (p.Lys915=)
c.2109A>G (p.Lys703=)
c.-831A>G (n.-831A>G)
5g.177211564A>TCA362322412NSD1c.2292A>T (p.Lys764Asn)
n.612+7272A>T
n.2748A>T
c.2856A>T (p.Lys952Asn)
n.2562A>T
c.3165A>T (p.Lys1055Asn)
n.3312A>T
c.2358A>T (p.Lys786Asn)
c.2745A>T (p.Lys915Asn)
c.2109A>T (p.Lys703Asn)
c.-831A>T (n.-831A>T)
5g.177211565C>ACA362322417NSD1c.2293C>A (p.Leu765Met)
n.612+7273C>A
n.2749C>A
c.2857C>A (p.Leu953Met)
n.2563C>A
c.3166C>A (p.Leu1056Met)
n.3313C>A
c.2359C>A (p.Leu787Met)
c.2746C>A (p.Leu916Met)
c.2110C>A (p.Leu704Met)
c.-830C>A (n.-830C>A)
dbSNP
5g.177211565C=CA1603478244NSD1c.2293C= (p.Leu765=)
n.612+7273C=
n.2749C=
c.2857C= (p.Leu953=)
n.2563C=
c.3166C= (p.Leu1056=)
n.3313C=
c.2359C= (p.Leu787=)
c.2746C= (p.Leu916=)
c.2110C= (p.Leu704=)
c.-830C= (n.-830C=)
5g.177211565C>GCA3577388NSD1c.2293C>G (p.Leu765Val)
n.612+7273C>G
n.2749C>G
c.2857C>G (p.Leu953Val)
n.2563C>G
c.3166C>G (p.Leu1056Val)
n.3313C>G
c.2359C>G (p.Leu787Val)
c.2746C>G (p.Leu916Val)
c.2110C>G (p.Leu704Val)
c.-830C>G (n.-830C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211565C>TCA447960959NSD1c.2293C>T (p.Leu765=)
n.612+7273C>T
n.2749C>T
c.2857C>T (p.Leu953=)
n.2563C>T
c.3166C>T (p.Leu1056=)
n.3313C>T
c.2359C>T (p.Leu787=)
c.2746C>T (p.Leu916=)
c.2110C>T (p.Leu704=)
c.-830C>T (n.-830C>T)
dbSNP
5g.177211566T>ACA362322423NSD1c.2294T>A (p.Leu765Gln)
n.612+7274T>A
n.2750T>A
c.2858T>A (p.Leu953Gln)
n.2564T>A
c.3167T>A (p.Leu1056Gln)
n.3314T>A
c.2360T>A (p.Leu787Gln)
c.2747T>A (p.Leu916Gln)
c.2111T>A (p.Leu704Gln)
c.-829T>A (n.-829T>A)
5g.177211566T>CCA362322418NSD1c.2294T>C (p.Leu765Pro)
n.612+7274T>C
n.2750T>C
c.2858T>C (p.Leu953Pro)
n.2564T>C
c.3167T>C (p.Leu1056Pro)
n.3314T>C
c.2360T>C (p.Leu787Pro)
c.2747T>C (p.Leu916Pro)
c.2111T>C (p.Leu704Pro)
c.-829T>C (n.-829T>C)
gnomAD v4
5g.177211566T>GCA362322421NSD1c.2294T>G (p.Leu765Arg)
n.612+7274T>G
n.2750T>G
c.2858T>G (p.Leu953Arg)
n.2564T>G
c.3167T>G (p.Leu1056Arg)
n.3314T>G
c.2360T>G (p.Leu787Arg)
c.2747T>G (p.Leu916Arg)
c.2111T>G (p.Leu704Arg)
c.-829T>G (n.-829T>G)
gnomAD v4
5g.177211567G>ACA447960963NSD1c.2295G>A (p.Leu765=)
n.612+7275G>A
n.2751G>A
c.2859G>A (p.Leu953=)
n.2565G>A
c.3168G>A (p.Leu1056=)
n.3315G>A
c.2361G>A (p.Leu787=)
c.2748G>A (p.Leu916=)
c.2112G>A (p.Leu704=)
c.-828G>A (n.-828G>A)
dbSNP
5g.177211567G>CCA447960964NSD1c.2295G>C (p.Leu765=)
n.612+7275G>C
n.2751G>C
c.2859G>C (p.Leu953=)
n.2565G>C
c.3168G>C (p.Leu1056=)
n.3315G>C
c.2361G>C (p.Leu787=)
c.2748G>C (p.Leu916=)
c.2112G>C (p.Leu704=)
c.-828G>C (n.-828G>C)
5g.177211567G>TCA447960965NSD1c.2295G>T (p.Leu765=)
n.612+7275G>T
n.2751G>T
c.2859G>T (p.Leu953=)
n.2565G>T
c.3168G>T (p.Leu1056=)
n.3315G>T
c.2361G>T (p.Leu787=)
c.2748G>T (p.Leu916=)
c.2112G>T (p.Leu704=)
c.-828G>T (n.-828G>T)
5g.177211568A=CA1603478252NSD1c.2296A= (p.Asn766=)
n.612+7276A=
n.2752A=
c.2860A= (p.Asn954=)
n.2566A=
c.3169A= (p.Asn1057=)
n.3316A=
c.2362A= (p.Asn788=)
c.2749A= (p.Asn917=)
c.2113A= (p.Asn705=)
c.-827A= (n.-827A=)
5g.177211568A>CCA362322430NSD1c.2296A>C (p.Asn766His)
n.612+7276A>C
n.2752A>C
c.2860A>C (p.Asn954His)
n.2566A>C
c.3169A>C (p.Asn1057His)
n.3316A>C
c.2362A>C (p.Asn788His)
c.2749A>C (p.Asn917His)
c.2113A>C (p.Asn705His)
c.-827A>C (n.-827A>C)
5g.177211568A>GCA362322435NSD1c.2296A>G (p.Asn766Asp)
n.612+7276A>G
n.2752A>G
c.2860A>G (p.Asn954Asp)
n.2566A>G
c.3169A>G (p.Asn1057Asp)
n.3316A>G
c.2362A>G (p.Asn788Asp)
c.2749A>G (p.Asn917Asp)
c.2113A>G (p.Asn705Asp)
c.-827A>G (n.-827A>G)
5g.177211568A>TCA132831078NSD1c.2296A>T (p.Asn766Tyr)
n.612+7276A>T
n.2752A>T
c.2860A>T (p.Asn954Tyr)
n.2566A>T
c.3169A>T (p.Asn1057Tyr)
n.3316A>T
c.2362A>T (p.Asn788Tyr)
c.2749A>T (p.Asn917Tyr)
c.2113A>T (p.Asn705Tyr)
c.-827A>T (n.-827A>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177211569A>CCA362322450NSD1c.2297A>C (p.Asn766Thr)
n.612+7277A>C
n.2753A>C
c.2861A>C (p.Asn954Thr)
n.2567A>C
c.3170A>C (p.Asn1057Thr)
n.3317A>C
c.2363A>C (p.Asn788Thr)
c.2750A>C (p.Asn917Thr)
c.2114A>C (p.Asn705Thr)
c.-826A>C (n.-826A>C)
5g.177211569A>GCA362322453NSD1c.2297A>G (p.Asn766Ser)
n.612+7277A>G
n.2753A>G
c.2861A>G (p.Asn954Ser)
n.2567A>G
c.3170A>G (p.Asn1057Ser)
n.3317A>G
c.2363A>G (p.Asn788Ser)
c.2750A>G (p.Asn917Ser)
c.2114A>G (p.Asn705Ser)
c.-826A>G (n.-826A>G)
gnomAD v4
5g.177211569A>TCA362322457NSD1c.2297A>T (p.Asn766Ile)
n.612+7277A>T
n.2753A>T
c.2861A>T (p.Asn954Ile)
n.2567A>T
c.3170A>T (p.Asn1057Ile)
n.3317A>T
c.2363A>T (p.Asn788Ile)
c.2750A>T (p.Asn917Ile)
c.2114A>T (p.Asn705Ile)
c.-826A>T (n.-826A>T)

Number of alleles fetched