Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177211649G>ACA362323079NSD1c.2377G>A (p.Asp793Asn)
n.612+7357G>A
n.2833G>A
c.2941G>A (p.Asp981Asn)
n.2647G>A
c.3250G>A (p.Asp1084Asn)
n.3397G>A
c.2443G>A (p.Asp815Asn)
c.2830G>A (p.Asp944Asn)
c.2194G>A (p.Asp732Asn)
c.-746G>A (n.-746G>A)
5g.177211649G>CCA362323081NSD1c.2377G>C (p.Asp793His)
n.612+7357G>C
n.2833G>C
c.2941G>C (p.Asp981His)
n.2647G>C
c.3250G>C (p.Asp1084His)
n.3397G>C
c.2443G>C (p.Asp815His)
c.2830G>C (p.Asp944His)
c.2194G>C (p.Asp732His)
c.-746G>C (n.-746G>C)
5g.177211649G>TCA362323085NSD1c.2377G>T (p.Asp793Tyr)
n.612+7357G>T
n.2833G>T
c.2941G>T (p.Asp981Tyr)
n.2647G>T
c.3250G>T (p.Asp1084Tyr)
n.3397G>T
c.2443G>T (p.Asp815Tyr)
c.2830G>T (p.Asp944Tyr)
c.2194G>T (p.Asp732Tyr)
c.-746G>T (n.-746G>T)
5g.177211650A>CCA362323092NSD1c.2378A>C (p.Asp793Ala)
n.612+7358A>C
n.2834A>C
c.2942A>C (p.Asp981Ala)
n.2648A>C
c.3251A>C (p.Asp1084Ala)
n.3398A>C
c.2444A>C (p.Asp815Ala)
c.2831A>C (p.Asp944Ala)
c.2195A>C (p.Asp732Ala)
c.-745A>C (n.-745A>C)
5g.177211650A>GCA362323096NSD1c.2378A>G (p.Asp793Gly)
n.612+7358A>G
n.2834A>G
c.2942A>G (p.Asp981Gly)
n.2648A>G
c.3251A>G (p.Asp1084Gly)
n.3398A>G
c.2444A>G (p.Asp815Gly)
c.2831A>G (p.Asp944Gly)
c.2195A>G (p.Asp732Gly)
c.-745A>G (n.-745A>G)
5g.177211650A>TCA362323094NSD1c.2378A>T (p.Asp793Val)
n.612+7358A>T
n.2834A>T
c.2942A>T (p.Asp981Val)
n.2648A>T
c.3251A>T (p.Asp1084Val)
n.3398A>T
c.2444A>T (p.Asp815Val)
c.2831A>T (p.Asp944Val)
c.2195A>T (p.Asp732Val)
c.-745A>T (n.-745A>T)
 gnomAD v4
5g.177211651T>ACA362323100NSD1c.2379T>A (p.Asp793Glu)
n.612+7359T>A
n.2835T>A
c.2943T>A (p.Asp981Glu)
n.2649T>A
c.3252T>A (p.Asp1084Glu)
n.3399T>A
c.2445T>A (p.Asp815Glu)
c.2832T>A (p.Asp944Glu)
c.2196T>A (p.Asp732Glu)
c.-744T>A (n.-744T>A)
5g.177211651T>CCA447960957NSD1c.2379T>C (p.Asp793=)
n.612+7359T>C
n.2835T>C
c.2943T>C (p.Asp981=)
n.2649T>C
c.3252T>C (p.Asp1084=)
n.3399T>C
c.2445T>C (p.Asp815=)
c.2832T>C (p.Asp944=)
c.2196T>C (p.Asp732=)
c.-744T>C (n.-744T>C)
5g.177211651T>GCA362323102NSD1c.2379T>G (p.Asp793Glu)
n.612+7359T>G
n.2835T>G
c.2943T>G (p.Asp981Glu)
n.2649T>G
c.3252T>G (p.Asp1084Glu)
n.3399T>G
c.2445T>G (p.Asp815Glu)
c.2832T>G (p.Asp944Glu)
c.2196T>G (p.Asp732Glu)
c.-744T>G (n.-744T>G)
5g.177211652C>ACA362323105NSD1c.2380C>A (p.Pro794Thr)
n.612+7360C>A
n.2836C>A
c.2944C>A (p.Pro982Thr)
n.2650C>A
c.3253C>A (p.Pro1085Thr)
n.3400C>A
c.2446C>A (p.Pro816Thr)
c.2833C>A (p.Pro945Thr)
c.2197C>A (p.Pro733Thr)
c.-743C>A (n.-743C>A)
 dbSNP
5g.177211652C>GCA362323108NSD1c.2380C>G (p.Pro794Ala)
n.612+7360C>G
n.2836C>G
c.2944C>G (p.Pro982Ala)
n.2650C>G
c.3253C>G (p.Pro1085Ala)
n.3400C>G
c.2446C>G (p.Pro816Ala)
c.2833C>G (p.Pro945Ala)
c.2197C>G (p.Pro733Ala)
c.-743C>G (n.-743C>G)
 dbSNP
5g.177211652C>TCA362323110NSD1c.2380C>T (p.Pro794Ser)
n.612+7360C>T
n.2836C>T
c.2944C>T (p.Pro982Ser)
n.2650C>T
c.3253C>T (p.Pro1085Ser)
n.3400C>T
c.2446C>T (p.Pro816Ser)
c.2833C>T (p.Pro945Ser)
c.2197C>T (p.Pro733Ser)
c.-743C>T (n.-743C>T)
 dbSNP
5g.177211653delCA2499217772NSD1c.2381del (p.Pro794LeufsTer9)
n.612+7361del
n.2837del
c.2945del (p.Pro982LeufsTer9)
n.2651del
c.3254del (p.Pro1085LeufsTer9)
n.3401del
c.2447del (p.Pro816LeufsTer9)
c.2834del (p.Pro945LeufsTer9)
c.2198del (p.Pro733LeufsTer9)
c.-742del (n.-742del)
 ClinVar dbSNP
5g.177211653C>ACA362323115NSD1c.2381C>A (p.Pro794His)
n.612+7361C>A
n.2837C>A
c.2945C>A (p.Pro982His)
n.2651C>A
c.3254C>A (p.Pro1085His)
n.3401C>A
c.2447C>A (p.Pro816His)
c.2834C>A (p.Pro945His)
c.2198C>A (p.Pro733His)
c.-742C>A (n.-742C>A)
5g.177211653C>GCA362323122NSD1c.2381C>G (p.Pro794Arg)
n.612+7361C>G
n.2837C>G
c.2945C>G (p.Pro982Arg)
n.2651C>G
c.3254C>G (p.Pro1085Arg)
n.3401C>G
c.2447C>G (p.Pro816Arg)
c.2834C>G (p.Pro945Arg)
c.2198C>G (p.Pro733Arg)
c.-742C>G (n.-742C>G)
 gnomAD v4
5g.177211653C>TCA362323120NSD1c.2381C>T (p.Pro794Leu)
n.612+7361C>T
n.2837C>T
c.2945C>T (p.Pro982Leu)
n.2651C>T
c.3254C>T (p.Pro1085Leu)
n.3401C>T
c.2447C>T (p.Pro816Leu)
c.2834C>T (p.Pro945Leu)
c.2198C>T (p.Pro733Leu)
c.-742C>T (n.-742C>T)
 dbSNP gnomAD v4
5g.177211654T>ACA447960960NSD1c.2382T>A (p.Pro794=)
n.612+7362T>A
n.2838T>A
c.2946T>A (p.Pro982=)
n.2652T>A
c.3255T>A (p.Pro1085=)
n.3402T>A
c.2448T>A (p.Pro816=)
c.2835T>A (p.Pro945=)
c.2199T>A (p.Pro733=)
c.-741T>A (n.-741T>A)
5g.177211654T>CCA447960961NSD1c.2382T>C (p.Pro794=)
n.612+7362T>C
n.2838T>C
c.2946T>C (p.Pro982=)
n.2652T>C
c.3255T>C (p.Pro1085=)
n.3402T>C
c.2448T>C (p.Pro816=)
c.2835T>C (p.Pro945=)
c.2199T>C (p.Pro733=)
c.-741T>C (n.-741T>C)
5g.177211654T>GCA447960962NSD1c.2382T>G (p.Pro794=)
n.612+7362T>G
n.2838T>G
c.2946T>G (p.Pro982=)
n.2652T>G
c.3255T>G (p.Pro1085=)
n.3402T>G
c.2448T>G (p.Pro816=)
c.2835T>G (p.Pro945=)
c.2199T>G (p.Pro733=)
c.-741T>G (n.-741T>G)
5g.177211655A=CA1603478565NSD1c.2383A= (p.Ser795=)
n.612+7363A=
n.2839A=
c.2947A= (p.Ser983=)
n.2653A=
c.3256A= (p.Ser1086=)
n.3403A=
c.2449A= (p.Ser817=)
c.2836A= (p.Ser946=)
c.2200A= (p.Ser734=)
c.-740A= (n.-740A=)
5g.177211655A>CCA362323127NSD1c.2383A>C (p.Ser795Arg)
n.612+7363A>C
n.2839A>C
c.2947A>C (p.Ser983Arg)
n.2653A>C
c.3256A>C (p.Ser1086Arg)
n.3403A>C
c.2449A>C (p.Ser817Arg)
c.2836A>C (p.Ser946Arg)
c.2200A>C (p.Ser734Arg)
c.-740A>C (n.-740A>C)
5g.177211655A>GCA132831187NSD1c.2383A>G (p.Ser795Gly)
n.612+7363A>G
n.2839A>G
c.2947A>G (p.Ser983Gly)
n.2653A>G
c.3256A>G (p.Ser1086Gly)
n.3403A>G
c.2449A>G (p.Ser817Gly)
c.2836A>G (p.Ser946Gly)
c.2200A>G (p.Ser734Gly)
c.-740A>G (n.-740A>G)
 dbSNP
5g.177211655A>TCA362323132NSD1c.2383A>T (p.Ser795Cys)
n.612+7363A>T
n.2839A>T
c.2947A>T (p.Ser983Cys)
n.2653A>T
c.3256A>T (p.Ser1086Cys)
n.3403A>T
c.2449A>T (p.Ser817Cys)
c.2836A>T (p.Ser946Cys)
c.2200A>T (p.Ser734Cys)
c.-740A>T (n.-740A>T)
5g.177211656G>ACA362323136NSD1c.2384G>A (p.Ser795Asn)
n.612+7364G>A
n.2840G>A
c.2948G>A (p.Ser983Asn)
n.2654G>A
c.3257G>A (p.Ser1086Asn)
n.3404G>A
c.2450G>A (p.Ser817Asn)
c.2837G>A (p.Ser946Asn)
c.2201G>A (p.Ser734Asn)
c.-739G>A (n.-739G>A)
 dbSNP
5g.177211656G>CCA362323139NSD1c.2384G>C (p.Ser795Thr)
n.612+7364G>C
n.2840G>C
c.2948G>C (p.Ser983Thr)
n.2654G>C
c.3257G>C (p.Ser1086Thr)
n.3404G>C
c.2450G>C (p.Ser817Thr)
c.2837G>C (p.Ser946Thr)
c.2201G>C (p.Ser734Thr)
c.-739G>C (n.-739G>C)
5g.177211656G>TCA362323142NSD1c.2384G>T (p.Ser795Ile)
n.612+7364G>T
n.2840G>T
c.2948G>T (p.Ser983Ile)
n.2654G>T
c.3257G>T (p.Ser1086Ile)
n.3404G>T
c.2450G>T (p.Ser817Ile)
c.2837G>T (p.Ser946Ile)
c.2201G>T (p.Ser734Ile)
c.-739G>T (n.-739G>T)
5g.177211657T>ACA362323145NSD1c.2385T>A (p.Ser795Arg)
n.612+7365T>A
n.2841T>A
c.2949T>A (p.Ser983Arg)
n.2655T>A
c.3258T>A (p.Ser1086Arg)
n.3405T>A
c.2451T>A (p.Ser817Arg)
c.2838T>A (p.Ser946Arg)
c.2202T>A (p.Ser734Arg)
c.-738T>A (n.-738T>A)
5g.177211657T>CCA447960966NSD1c.2385T>C (p.Ser795=)
n.612+7365T>C
n.2841T>C
c.2949T>C (p.Ser983=)
n.2655T>C
c.3258T>C (p.Ser1086=)
n.3405T>C
c.2451T>C (p.Ser817=)
c.2838T>C (p.Ser946=)
c.2202T>C (p.Ser734=)
c.-738T>C (n.-738T>C)
5g.177211657T>GCA362323159NSD1c.2385T>G (p.Ser795Arg)
n.612+7365T>G
n.2841T>G
c.2949T>G (p.Ser983Arg)
n.2655T>G
c.3258T>G (p.Ser1086Arg)
n.3405T>G
c.2451T>G (p.Ser817Arg)
c.2838T>G (p.Ser946Arg)
c.2202T>G (p.Ser734Arg)
c.-738T>G (n.-738T>G)
5g.177211657_177211664delinsTAAAGAGGCA1603478569NSD1c.2385_2392delinsTAAAGAGG (p.Ser795=)
n.612+7365_612+7372delinsTAAAGAGG
n.2841_2848delinsTAAAGAGG
c.2949_2956delinsTAAAGAGG (p.Ser983=)
n.2655_2662delinsTAAAGAGG
c.3258_3265delinsTAAAGAGG (p.Ser1086=)
n.3405_3412delinsTAAAGAGG
c.2451_2458delinsTAAAGAGG (p.Ser817=)
c.2838_2845delinsTAAAGAGG (p.Ser946=)
c.2202_2209delinsTAAAGAGG (p.Ser734=)
c.-738_-731delinsTAAAGAGG (n.-738_-731delinsTAAAGAGG)
5g.177211658A>CCA362323166NSD1c.2386A>C (p.Lys796Gln)
n.612+7366A>C
n.2842A>C
c.2950A>C (p.Lys984Gln)
n.2656A>C
c.3259A>C (p.Lys1087Gln)
n.3406A>C
c.2452A>C (p.Lys818Gln)
c.2839A>C (p.Lys947Gln)
c.2203A>C (p.Lys735Gln)
c.-737A>C (n.-737A>C)
5g.177211658A>GCA362323169NSD1c.2386A>G (p.Lys796Glu)
n.612+7366A>G
n.2842A>G
c.2950A>G (p.Lys984Glu)
n.2656A>G
c.3259A>G (p.Lys1087Glu)
n.3406A>G
c.2452A>G (p.Lys818Glu)
c.2839A>G (p.Lys947Glu)
c.2203A>G (p.Lys735Glu)
c.-737A>G (n.-737A>G)
5g.177211658A>TCA362323172NSD1c.2386A>T (p.Lys796Ter)
n.612+7366A>T
n.2842A>T
c.2950A>T (p.Lys984Ter)
n.2656A>T
c.3259A>T (p.Lys1087Ter)
n.3406A>T
c.2452A>T (p.Lys818Ter)
c.2839A>T (p.Lys947Ter)
c.2203A>T (p.Lys735Ter)
c.-737A>T (n.-737A>T)
5g.177211659_177211665delCA319700NSD1c.2387_2393del (p.Lys796IlefsTer5)
n.612+7367_612+7373del
n.2843_2849del
c.2951_2957del (p.Lys984IlefsTer5)
n.2657_2663del
c.3260_3266del (p.Lys1087IlefsTer5)
n.3407_3413del
c.2453_2459del (p.Lys818IlefsTer5)
c.2840_2846del (p.Lys947IlefsTer5)
c.2204_2210del (p.Lys735IlefsTer5)
c.-736_-730del (n.-736_-730del)
 ClinVar dbSNP
5g.177211659A>CCA362323179NSD1c.2387A>C (p.Lys796Thr)
n.612+7367A>C
n.2843A>C
c.2951A>C (p.Lys984Thr)
n.2657A>C
c.3260A>C (p.Lys1087Thr)
n.3407A>C
c.2453A>C (p.Lys818Thr)
c.2840A>C (p.Lys947Thr)
c.2204A>C (p.Lys735Thr)
c.-736A>C (n.-736A>C)
5g.177211659A>GCA362323186NSD1c.2387A>G (p.Lys796Arg)
n.612+7367A>G
n.2843A>G
c.2951A>G (p.Lys984Arg)
n.2657A>G
c.3260A>G (p.Lys1087Arg)
n.3407A>G
c.2453A>G (p.Lys818Arg)
c.2840A>G (p.Lys947Arg)
c.2204A>G (p.Lys735Arg)
c.-736A>G (n.-736A>G)
5g.177211659A>TCA362323182NSD1c.2387A>T (p.Lys796Ile)
n.612+7367A>T
n.2843A>T
c.2951A>T (p.Lys984Ile)
n.2657A>T
c.3260A>T (p.Lys1087Ile)
n.3407A>T
c.2453A>T (p.Lys818Ile)
c.2840A>T (p.Lys947Ile)
c.2204A>T (p.Lys735Ile)
c.-736A>T (n.-736A>T)
5g.177211660A=CA1603478577NSD1c.2388A= (p.Lys796=)
n.612+7368A=
n.2844A=
c.2952A= (p.Lys984=)
n.2658A=
c.3261A= (p.Lys1087=)
n.3408A=
c.2454A= (p.Lys818=)
c.2841A= (p.Lys947=)
c.2205A= (p.Lys735=)
c.-735A= (n.-735A=)
5g.177211660A>CCA362323190NSD1c.2388A>C (p.Lys796Asn)
n.612+7368A>C
n.2844A>C
c.2952A>C (p.Lys984Asn)
n.2658A>C
c.3261A>C (p.Lys1087Asn)
n.3408A>C
c.2454A>C (p.Lys818Asn)
c.2841A>C (p.Lys947Asn)
c.2205A>C (p.Lys735Asn)
c.-735A>C (n.-735A>C)
5g.177211660A>GCA447960967NSD1c.2388A>G (p.Lys796=)
n.612+7368A>G
n.2844A>G
c.2952A>G (p.Lys984=)
n.2658A>G
c.3261A>G (p.Lys1087=)
n.3408A>G
c.2454A>G (p.Lys818=)
c.2841A>G (p.Lys947=)
c.2205A>G (p.Lys735=)
c.-735A>G (n.-735A>G)
 dbSNP
5g.177211660A>TCA362323193NSD1c.2388A>T (p.Lys796Asn)
n.612+7368A>T
n.2844A>T
c.2952A>T (p.Lys984Asn)
n.2658A>T
c.3261A>T (p.Lys1087Asn)
n.3408A>T
c.2454A>T (p.Lys818Asn)
c.2841A>T (p.Lys947Asn)
c.2205A>T (p.Lys735Asn)
c.-735A>T (n.-735A>T)
5g.177211661G>ACA362323199NSD1c.2389G>A (p.Glu797Lys)
n.612+7369G>A
n.2845G>A
c.2953G>A (p.Glu985Lys)
n.2659G>A
c.3262G>A (p.Glu1088Lys)
n.3409G>A
c.2455G>A (p.Glu819Lys)
c.2842G>A (p.Glu948Lys)
c.2206G>A (p.Glu736Lys)
c.-734G>A (n.-734G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211661G>CCA362323201NSD1c.2389G>C (p.Glu797Gln)
n.612+7369G>C
n.2845G>C
c.2953G>C (p.Glu985Gln)
n.2659G>C
c.3262G>C (p.Glu1088Gln)
n.3409G>C
c.2455G>C (p.Glu819Gln)
c.2842G>C (p.Glu948Gln)
c.2206G>C (p.Glu736Gln)
c.-734G>C (n.-734G>C)
 dbSNP
5g.177211661G=CA1603478580NSD1c.2389G= (p.Glu797=)
n.612+7369G=
n.2845G=
c.2953G= (p.Glu985=)
n.2659G=
c.3262G= (p.Glu1088=)
n.3409G=
c.2455G= (p.Glu819=)
c.2842G= (p.Glu948=)
c.2206G= (p.Glu736=)
c.-734G= (n.-734G=)
5g.177211661G>TCA362323204NSD1c.2389G>T (p.Glu797Ter)
n.612+7369G>T
n.2845G>T
c.2953G>T (p.Glu985Ter)
n.2659G>T
c.3262G>T (p.Glu1088Ter)
n.3409G>T
c.2455G>T (p.Glu819Ter)
c.2842G>T (p.Glu948Ter)
c.2206G>T (p.Glu736Ter)
c.-734G>T (n.-734G>T)
5g.177211662A>CCA362323210NSD1c.2390A>C (p.Glu797Ala)
n.612+7370A>C
n.2846A>C
c.2954A>C (p.Glu985Ala)
n.2660A>C
c.3263A>C (p.Glu1088Ala)
n.3410A>C
c.2456A>C (p.Glu819Ala)
c.2843A>C (p.Glu948Ala)
c.2207A>C (p.Glu736Ala)
c.-733A>C (n.-733A>C)
5g.177211662A>GCA362323211NSD1c.2390A>G (p.Glu797Gly)
n.612+7370A>G
n.2846A>G
c.2954A>G (p.Glu985Gly)
n.2660A>G
c.3263A>G (p.Glu1088Gly)
n.3410A>G
c.2456A>G (p.Glu819Gly)
c.2843A>G (p.Glu948Gly)
c.2207A>G (p.Glu736Gly)
c.-733A>G (n.-733A>G)
5g.177211662A>TCA362323216NSD1c.2390A>T (p.Glu797Val)
n.612+7370A>T
n.2846A>T
c.2954A>T (p.Glu985Val)
n.2660A>T
c.3263A>T (p.Glu1088Val)
n.3410A>T
c.2456A>T (p.Glu819Val)
c.2843A>T (p.Glu948Val)
c.2207A>T (p.Glu736Val)
c.-733A>T (n.-733A>T)
5g.177211663G>ACA447960968NSD1c.2391G>A (p.Glu797=)
n.612+7371G>A
n.2847G>A
c.2955G>A (p.Glu985=)
n.2661G>A
c.3264G>A (p.Glu1088=)
n.3411G>A
c.2457G>A (p.Glu819=)
c.2844G>A (p.Glu948=)
c.2208G>A (p.Glu736=)
c.-732G>A (n.-732G>A)
5g.177211663G>CCA3577408NSD1c.2391G>C (p.Glu797Asp)
n.612+7371G>C
n.2847G>C
c.2955G>C (p.Glu985Asp)
n.2661G>C
c.3264G>C (p.Glu1088Asp)
n.3411G>C
c.2457G>C (p.Glu819Asp)
c.2844G>C (p.Glu948Asp)
c.2208G>C (p.Glu736Asp)
c.-732G>C (n.-732G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211663G=CA1603478589NSD1c.2391G= (p.Glu797=)
n.612+7371G=
n.2847G=
c.2955G= (p.Glu985=)
n.2661G=
c.3264G= (p.Glu1088=)
n.3411G=
c.2457G= (p.Glu819=)
c.2844G= (p.Glu948=)
c.2208G= (p.Glu736=)
c.-732G= (n.-732G=)
5g.177211663G>TCA362323224NSD1c.2391G>T (p.Glu797Asp)
n.612+7371G>T
n.2847G>T
c.2955G>T (p.Glu985Asp)
n.2661G>T
c.3264G>T (p.Glu1088Asp)
n.3411G>T
c.2457G>T (p.Glu819Asp)
c.2844G>T (p.Glu948Asp)
c.2208G>T (p.Glu736Asp)
c.-732G>T (n.-732G>T)
5g.177211664G>ACA362323231NSD1c.2392G>A (p.Asp798Asn)
n.612+7372G>A
n.2848G>A
c.2956G>A (p.Asp986Asn)
n.2662G>A
c.3265G>A (p.Asp1089Asn)
n.3412G>A
c.2458G>A (p.Asp820Asn)
c.2845G>A (p.Asp949Asn)
c.2209G>A (p.Asp737Asn)
c.-731G>A (n.-731G>A)
 COSMIC COSMIC
5g.177211664G>CCA362323241NSD1c.2392G>C (p.Asp798His)
n.612+7372G>C
n.2848G>C
c.2956G>C (p.Asp986His)
n.2662G>C
c.3265G>C (p.Asp1089His)
n.3412G>C
c.2458G>C (p.Asp820His)
c.2845G>C (p.Asp949His)
c.2209G>C (p.Asp737His)
c.-731G>C (n.-731G>C)
 dbSNP
5g.177211664G>TCA362323244NSD1c.2392G>T (p.Asp798Tyr)
n.612+7372G>T
n.2848G>T
c.2956G>T (p.Asp986Tyr)
n.2662G>T
c.3265G>T (p.Asp1089Tyr)
n.3412G>T
c.2458G>T (p.Asp820Tyr)
c.2845G>T (p.Asp949Tyr)
c.2209G>T (p.Asp737Tyr)
c.-731G>T (n.-731G>T)
5g.177211665A>CCA362323256NSD1c.2393A>C (p.Asp798Ala)
n.612+7373A>C
n.2849A>C
c.2957A>C (p.Asp986Ala)
n.2663A>C
c.3266A>C (p.Asp1089Ala)
n.3413A>C
c.2459A>C (p.Asp820Ala)
c.2846A>C (p.Asp949Ala)
c.2210A>C (p.Asp737Ala)
c.-730A>C (n.-730A>C)
5g.177211665A>GCA362323249NSD1c.2393A>G (p.Asp798Gly)
n.612+7373A>G
n.2849A>G
c.2957A>G (p.Asp986Gly)
n.2663A>G
c.3266A>G (p.Asp1089Gly)
n.3413A>G
c.2459A>G (p.Asp820Gly)
c.2846A>G (p.Asp949Gly)
c.2210A>G (p.Asp737Gly)
c.-730A>G (n.-730A>G)
5g.177211665A>TCA362323252NSD1c.2393A>T (p.Asp798Val)
n.612+7373A>T
n.2849A>T
c.2957A>T (p.Asp986Val)
n.2663A>T
c.3266A>T (p.Asp1089Val)
n.3413A>T
c.2459A>T (p.Asp820Val)
c.2846A>T (p.Asp949Val)
c.2210A>T (p.Asp737Val)
c.-730A>T (n.-730A>T)
5g.177211666T>ACA362323263NSD1c.2394T>A (p.Asp798Glu)
n.612+7374T>A
n.2850T>A
c.2958T>A (p.Asp986Glu)
n.2664T>A
c.3267T>A (p.Asp1089Glu)
n.3414T>A
c.2460T>A (p.Asp820Glu)
c.2847T>A (p.Asp949Glu)
c.2211T>A (p.Asp737Glu)
c.-729T>A (n.-729T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211666T>CCA447960969NSD1c.2394T>C (p.Asp798=)
n.612+7374T>C
n.2850T>C
c.2958T>C (p.Asp986=)
n.2664T>C
c.3267T>C (p.Asp1089=)
n.3414T>C
c.2460T>C (p.Asp820=)
c.2847T>C (p.Asp949=)
c.2211T>C (p.Asp737=)
c.-729T>C (n.-729T>C)
5g.177211666T>GCA362323277NSD1c.2394T>G (p.Asp798Glu)
n.612+7374T>G
n.2850T>G
c.2958T>G (p.Asp986Glu)
n.2664T>G
c.3267T>G (p.Asp1089Glu)
n.3414T>G
c.2460T>G (p.Asp820Glu)
c.2847T>G (p.Asp949Glu)
c.2211T>G (p.Asp737Glu)
c.-729T>G (n.-729T>G)
 dbSNP
5g.177211666T=CA1603478596NSD1c.2394T= (p.Asp798=)
n.612+7374T=
n.2850T=
c.2958T= (p.Asp986=)
n.2664T=
c.3267T= (p.Asp1089=)
n.3414T=
c.2460T= (p.Asp820=)
c.2847T= (p.Asp949=)
c.2211T= (p.Asp737=)
c.-729T= (n.-729T=)
5g.177211667C>ACA362323282NSD1c.2395C>A (p.Pro799Thr)
n.612+7375C>A
n.2851C>A
c.2959C>A (p.Pro987Thr)
n.2665C>A
c.3268C>A (p.Pro1090Thr)
n.3415C>A
c.2461C>A (p.Pro821Thr)
c.2848C>A (p.Pro950Thr)
c.2212C>A (p.Pro738Thr)
c.-728C>A (n.-728C>A)
 dbSNP
5g.177211667C=CA1603478602NSD1c.2395C= (p.Pro799=)
n.612+7375C=
n.2851C=
c.2959C= (p.Pro987=)
n.2665C=
c.3268C= (p.Pro1090=)
n.3415C=
c.2461C= (p.Pro821=)
c.2848C= (p.Pro950=)
c.2212C= (p.Pro738=)
c.-728C= (n.-728C=)
5g.177211667C>GCA362323286NSD1c.2395C>G (p.Pro799Ala)
n.612+7375C>G
n.2851C>G
c.2959C>G (p.Pro987Ala)
n.2665C>G
c.3268C>G (p.Pro1090Ala)
n.3415C>G
c.2461C>G (p.Pro821Ala)
c.2848C>G (p.Pro950Ala)
c.2212C>G (p.Pro738Ala)
c.-728C>G (n.-728C>G)
5g.177211667C>TCA362323288NSD1c.2395C>T (p.Pro799Ser)
n.612+7375C>T
n.2851C>T
c.2959C>T (p.Pro987Ser)
n.2665C>T
c.3268C>T (p.Pro1090Ser)
n.3415C>T
c.2461C>T (p.Pro821Ser)
c.2848C>T (p.Pro950Ser)
c.2212C>T (p.Pro738Ser)
c.-728C>T (n.-728C>T)
5g.177211670dupCA1139655897NSD1c.2398dup (p.Leu800ProfsTer10)
n.612+7378dup
n.2854dup
c.2962dup (p.Leu988ProfsTer10)
n.2668dup
c.3271dup (p.Leu1091ProfsTer10)
n.3418dup
c.2464dup (p.Leu822ProfsTer10)
c.2851dup (p.Leu951ProfsTer10)
c.2215dup (p.Leu739ProfsTer10)
c.-725dup (n.-725dup)
 ClinVar dbSNP
5g.177211668C>ACA362323294NSD1c.2396C>A (p.Pro799His)
n.612+7376C>A
n.2852C>A
c.2960C>A (p.Pro987His)
n.2666C>A
c.3269C>A (p.Pro1090His)
n.3416C>A
c.2462C>A (p.Pro821His)
c.2849C>A (p.Pro950His)
c.2213C>A (p.Pro738His)
c.-727C>A (n.-727C>A)
5g.177211668C>GCA362323297NSD1c.2396C>G (p.Pro799Arg)
n.612+7376C>G
n.2852C>G
c.2960C>G (p.Pro987Arg)
n.2666C>G
c.3269C>G (p.Pro1090Arg)
n.3416C>G
c.2462C>G (p.Pro821Arg)
c.2849C>G (p.Pro950Arg)
c.2213C>G (p.Pro738Arg)
c.-727C>G (n.-727C>G)
5g.177211668C>TCA362323300NSD1c.2396C>T (p.Pro799Leu)
n.612+7376C>T
n.2852C>T
c.2960C>T (p.Pro987Leu)
n.2666C>T
c.3269C>T (p.Pro1090Leu)
n.3416C>T
c.2462C>T (p.Pro821Leu)
c.2849C>T (p.Pro950Leu)
c.2213C>T (p.Pro738Leu)
c.-727C>T (n.-727C>T)
 dbSNP
5g.177211669C>ACA447960970NSD1c.2397C>A (p.Pro799=)
n.612+7377C>A
n.2853C>A
c.2961C>A (p.Pro987=)
n.2667C>A
c.3270C>A (p.Pro1090=)
n.3417C>A
c.2463C>A (p.Pro821=)
c.2850C>A (p.Pro950=)
c.2214C>A (p.Pro738=)
c.-726C>A (n.-726C>A)
 dbSNP
5g.177211669C>GCA447960971NSD1c.2397C>G (p.Pro799=)
n.612+7377C>G
n.2853C>G
c.2961C>G (p.Pro987=)
n.2667C>G
c.3270C>G (p.Pro1090=)
n.3417C>G
c.2463C>G (p.Pro821=)
c.2850C>G (p.Pro950=)
c.2214C>G (p.Pro738=)
c.-726C>G (n.-726C>G)
5g.177211669C>TCA447960972NSD1c.2397C>T (p.Pro799=)
n.612+7377C>T
n.2853C>T
c.2961C>T (p.Pro987=)
n.2667C>T
c.3270C>T (p.Pro1090=)
n.3417C>T
c.2463C>T (p.Pro821=)
c.2850C>T (p.Pro950=)
c.2214C>T (p.Pro738=)
c.-726C>T (n.-726C>T)
 dbSNP
5g.177211670C>ACA172798NSD1c.2398C>A (p.Leu800Ile)
n.612+7378C>A
n.2854C>A
c.2962C>A (p.Leu988Ile)
n.2668C>A
c.3271C>A (p.Leu1091Ile)
n.3418C>A
c.2464C>A (p.Leu822Ile)
c.2851C>A (p.Leu951Ile)
c.2215C>A (p.Leu739Ile)
c.-725C>A (n.-725C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211670C=CA1603478606NSD1c.2398C= (p.Leu800=)
n.612+7378C=
n.2854C=
c.2962C= (p.Leu988=)
n.2668C=
c.3271C= (p.Leu1091=)
n.3418C=
c.2464C= (p.Leu822=)
c.2851C= (p.Leu951=)
c.2215C= (p.Leu739=)
c.-725C= (n.-725C=)
5g.177211670C>GCA362323308NSD1c.2398C>G (p.Leu800Val)
n.612+7378C>G
n.2854C>G
c.2962C>G (p.Leu988Val)
n.2668C>G
c.3271C>G (p.Leu1091Val)
n.3418C>G
c.2464C>G (p.Leu822Val)
c.2851C>G (p.Leu951Val)
c.2215C>G (p.Leu739Val)
c.-725C>G (n.-725C>G)
5g.177211670C>TCA362323311NSD1c.2398C>T (p.Leu800Phe)
n.612+7378C>T
n.2854C>T
c.2962C>T (p.Leu988Phe)
n.2668C>T
c.3271C>T (p.Leu1091Phe)
n.3418C>T
c.2464C>T (p.Leu822Phe)
c.2851C>T (p.Leu951Phe)
c.2215C>T (p.Leu739Phe)
c.-725C>T (n.-725C>T)
 dbSNP
5g.177211671T>ACA362323318NSD1c.2399T>A (p.Leu800His)
n.612+7379T>A
n.2855T>A
c.2963T>A (p.Leu988His)
n.2669T>A
c.3272T>A (p.Leu1091His)
n.3419T>A
c.2465T>A (p.Leu822His)
c.2852T>A (p.Leu951His)
c.2216T>A (p.Leu739His)
c.-724T>A (n.-724T>A)
5g.177211671T>CCA362323323NSD1c.2399T>C (p.Leu800Pro)
n.612+7379T>C
n.2855T>C
c.2963T>C (p.Leu988Pro)
n.2669T>C
c.3272T>C (p.Leu1091Pro)
n.3419T>C
c.2465T>C (p.Leu822Pro)
c.2852T>C (p.Leu951Pro)
c.2216T>C (p.Leu739Pro)
c.-724T>C (n.-724T>C)
5g.177211671T>GCA3577409NSD1c.2399T>G (p.Leu800Arg)
n.612+7379T>G
n.2855T>G
c.2963T>G (p.Leu988Arg)
n.2669T>G
c.3272T>G (p.Leu1091Arg)
n.3419T>G
c.2465T>G (p.Leu822Arg)
c.2852T>G (p.Leu951Arg)
c.2216T>G (p.Leu739Arg)
c.-724T>G (n.-724T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211671T=CA1603478610NSD1c.2399T= (p.Leu800=)
n.612+7379T=
n.2855T=
c.2963T= (p.Leu988=)
n.2669T=
c.3272T= (p.Leu1091=)
n.3419T=
c.2465T= (p.Leu822=)
c.2852T= (p.Leu951=)
c.2216T= (p.Leu739=)
c.-724T= (n.-724T=)
5g.177211672delCA2695202831NSD1c.2400del (p.Gln801ArgfsTer2)
n.612+7380del
n.2856del
c.2964del (p.Gln989ArgfsTer2)
n.2670del
c.3273del (p.Gln1092ArgfsTer2)
n.3420del
c.2466del (p.Gln823ArgfsTer2)
c.2853del (p.Gln952ArgfsTer2)
c.2217del (p.Gln740ArgfsTer2)
c.-723del (n.-723del)
5g.177211672T>ACA447960973NSD1c.2400T>A (p.Leu800=)
n.612+7380T>A
n.2856T>A
c.2964T>A (p.Leu988=)
n.2670T>A
c.3273T>A (p.Leu1091=)
n.3420T>A
c.2466T>A (p.Leu822=)
c.2853T>A (p.Leu951=)
c.2217T>A (p.Leu739=)
c.-723T>A (n.-723T>A)
5g.177211672T>CCA447960974NSD1c.2400T>C (p.Leu800=)
n.612+7380T>C
n.2856T>C
c.2964T>C (p.Leu988=)
n.2670T>C
c.3273T>C (p.Leu1091=)
n.3420T>C
c.2466T>C (p.Leu822=)
c.2853T>C (p.Leu951=)
c.2217T>C (p.Leu739=)
c.-723T>C (n.-723T>C)
5g.177211672T>GCA447960975NSD1c.2400T>G (p.Leu800=)
n.612+7380T>G
n.2856T>G
c.2964T>G (p.Leu988=)
n.2670T>G
c.3273T>G (p.Leu1091=)
n.3420T>G
c.2466T>G (p.Leu822=)
c.2853T>G (p.Leu951=)
c.2217T>G (p.Leu739=)
c.-723T>G (n.-723T>G)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177211672T=CA1603478615NSD1c.2400T= (p.Leu800=)
n.612+7380T=
n.2856T=
c.2964T= (p.Leu988=)
n.2670T=
c.3273T= (p.Leu1091=)
n.3420T=
c.2466T= (p.Leu822=)
c.2853T= (p.Leu951=)
c.2217T= (p.Leu739=)
c.-723T= (n.-723T=)
5g.177211673C>ACA362323331NSD1c.2401C>A (p.Gln801Lys)
n.612+7381C>A
n.2857C>A
c.2965C>A (p.Gln989Lys)
n.2671C>A
c.3274C>A (p.Gln1092Lys)
n.3421C>A
c.2467C>A (p.Gln823Lys)
c.2854C>A (p.Gln952Lys)
c.2218C>A (p.Gln740Lys)
c.-722C>A (n.-722C>A)
5g.177211673C=CA1603478628NSD1c.2401C= (p.Gln801=)
n.612+7381C=
n.2857C=
c.2965C= (p.Gln989=)
n.2671C=
c.3274C= (p.Gln1092=)
n.3421C=
c.2467C= (p.Gln823=)
c.2854C= (p.Gln952=)
c.2218C= (p.Gln740=)
c.-722C= (n.-722C=)
5g.177211673C>GCA362323338NSD1c.2401C>G (p.Gln801Glu)
n.612+7381C>G
n.2857C>G
c.2965C>G (p.Gln989Glu)
n.2671C>G
c.3274C>G (p.Gln1092Glu)
n.3421C>G
c.2467C>G (p.Gln823Glu)
c.2854C>G (p.Gln952Glu)
c.2218C>G (p.Gln740Glu)
c.-722C>G (n.-722C>G)
5g.177211673C>TCA362323333NSD1c.2401C>T (p.Gln801Ter)
n.612+7381C>T
n.2857C>T
c.2965C>T (p.Gln989Ter)
n.2671C>T
c.3274C>T (p.Gln1092Ter)
n.3421C>T
c.2467C>T (p.Gln823Ter)
c.2854C>T (p.Gln952Ter)
c.2218C>T (p.Gln740Ter)
c.-722C>T (n.-722C>T)
 ClinVar dbSNP
5g.177211674A>CCA362323342NSD1c.2402A>C (p.Gln801Pro)
n.612+7382A>C
n.2858A>C
c.2966A>C (p.Gln989Pro)
n.2672A>C
c.3275A>C (p.Gln1092Pro)
n.3422A>C
c.2468A>C (p.Gln823Pro)
c.2855A>C (p.Gln952Pro)
c.2219A>C (p.Gln740Pro)
c.-721A>C (n.-721A>C)
5g.177211674A>GCA362323345NSD1c.2402A>G (p.Gln801Arg)
n.612+7382A>G
n.2858A>G
c.2966A>G (p.Gln989Arg)
n.2672A>G
c.3275A>G (p.Gln1092Arg)
n.3422A>G
c.2468A>G (p.Gln823Arg)
c.2855A>G (p.Gln952Arg)
c.2219A>G (p.Gln740Arg)
c.-721A>G (n.-721A>G)
 ClinVar
5g.177211674A>TCA362323348NSD1c.2402A>T (p.Gln801Leu)
n.612+7382A>T
n.2858A>T
c.2966A>T (p.Gln989Leu)
n.2672A>T
c.3275A>T (p.Gln1092Leu)
n.3422A>T
c.2468A>T (p.Gln823Leu)
c.2855A>T (p.Gln952Leu)
c.2219A>T (p.Gln740Leu)
c.-721A>T (n.-721A>T)
5g.177211675G>ACA447960976NSD1c.2403G>A (p.Gln801=)
n.612+7383G>A
n.2859G>A
c.2967G>A (p.Gln989=)
n.2673G>A
c.3276G>A (p.Gln1092=)
n.3423G>A
c.2469G>A (p.Gln823=)
c.2856G>A (p.Gln952=)
c.2220G>A (p.Gln740=)
c.-720G>A (n.-720G>A)
5g.177211675G>CCA362323351NSD1c.2403G>C (p.Gln801His)
n.612+7383G>C
n.2859G>C
c.2967G>C (p.Gln989His)
n.2673G>C
c.3276G>C (p.Gln1092His)
n.3423G>C
c.2469G>C (p.Gln823His)
c.2856G>C (p.Gln952His)
c.2220G>C (p.Gln740His)
c.-720G>C (n.-720G>C)
 gnomAD v4 COSMIC COSMIC
5g.177211675G>TCA362323352NSD1c.2403G>T (p.Gln801His)
n.612+7383G>T
n.2859G>T
c.2967G>T (p.Gln989His)
n.2673G>T
c.3276G>T (p.Gln1092His)
n.3423G>T
c.2469G>T (p.Gln823His)
c.2856G>T (p.Gln952His)
c.2220G>T (p.Gln740His)
c.-720G>T (n.-720G>T)
5g.177211676A=CA1603478633NSD1c.2404A= (p.Ile802=)
n.612+7384A=
n.2860A=
c.2968A= (p.Ile990=)
n.2674A=
c.3277A= (p.Ile1093=)
n.3424A=
c.2470A= (p.Ile824=)
c.2857A= (p.Ile953=)
c.2221A= (p.Ile741=)
c.-719A= (n.-719A=)
5g.177211676A>CCA362323356NSD1c.2404A>C (p.Ile802Leu)
n.612+7384A>C
n.2860A>C
c.2968A>C (p.Ile990Leu)
n.2674A>C
c.3277A>C (p.Ile1093Leu)
n.3424A>C
c.2470A>C (p.Ile824Leu)
c.2857A>C (p.Ile953Leu)
c.2221A>C (p.Ile741Leu)
c.-719A>C (n.-719A>C)
 ClinVar
5g.177211676A>GCA362323359NSD1c.2404A>G (p.Ile802Val)
n.612+7384A>G
n.2860A>G
c.2968A>G (p.Ile990Val)
n.2674A>G
c.3277A>G (p.Ile1093Val)
n.3424A>G
c.2470A>G (p.Ile824Val)
c.2857A>G (p.Ile953Val)
c.2221A>G (p.Ile741Val)
c.-719A>G (n.-719A>G)
 dbSNP
5g.177211676A>TCA362323361NSD1c.2404A>T (p.Ile802Leu)
n.612+7384A>T
n.2860A>T
c.2968A>T (p.Ile990Leu)
n.2674A>T
c.3277A>T (p.Ile1093Leu)
n.3424A>T
c.2470A>T (p.Ile824Leu)
c.2857A>T (p.Ile953Leu)
c.2221A>T (p.Ile741Leu)
c.-719A>T (n.-719A>T)
5g.177211677T>ACA362323369NSD1c.2405T>A (p.Ile802Lys)
n.612+7385T>A
n.2861T>A
c.2969T>A (p.Ile990Lys)
n.2675T>A
c.3278T>A (p.Ile1093Lys)
n.3425T>A
c.2471T>A (p.Ile824Lys)
c.2858T>A (p.Ile953Lys)
c.2222T>A (p.Ile741Lys)
c.-718T>A (n.-718T>A)
5g.177211677T>CCA362323374NSD1c.2405T>C (p.Ile802Thr)
n.612+7385T>C
n.2861T>C
c.2969T>C (p.Ile990Thr)
n.2675T>C
c.3278T>C (p.Ile1093Thr)
n.3425T>C
c.2471T>C (p.Ile824Thr)
c.2858T>C (p.Ile953Thr)
c.2222T>C (p.Ile741Thr)
c.-718T>C (n.-718T>C)
5g.177211677T>GCA362323378NSD1c.2405T>G (p.Ile802Arg)
n.612+7385T>G
n.2861T>G
c.2969T>G (p.Ile990Arg)
n.2675T>G
c.3278T>G (p.Ile1093Arg)
n.3425T>G
c.2471T>G (p.Ile824Arg)
c.2858T>G (p.Ile953Arg)
c.2222T>G (p.Ile741Arg)
c.-718T>G (n.-718T>G)
5g.177211678A>CCA447960977NSD1c.2406A>C (p.Ile802=)
n.612+7386A>C
n.2862A>C
c.2970A>C (p.Ile990=)
n.2676A>C
c.3279A>C (p.Ile1093=)
n.3426A>C
c.2472A>C (p.Ile824=)
c.2859A>C (p.Ile953=)
c.2223A>C (p.Ile741=)
c.-717A>C (n.-717A>C)
5g.177211678A>GCA362323380NSD1c.2406A>G (p.Ile802Met)
n.612+7386A>G
n.2862A>G
c.2970A>G (p.Ile990Met)
n.2676A>G
c.3279A>G (p.Ile1093Met)
n.3426A>G
c.2472A>G (p.Ile824Met)
c.2859A>G (p.Ile953Met)
c.2223A>G (p.Ile741Met)
c.-717A>G (n.-717A>G)
 gnomAD v4
5g.177211678A>TCA447960978NSD1c.2406A>T (p.Ile802=)
n.612+7386A>T
n.2862A>T
c.2970A>T (p.Ile990=)
n.2676A>T
c.3279A>T (p.Ile1093=)
n.3426A>T
c.2472A>T (p.Ile824=)
c.2859A>T (p.Ile953=)
c.2223A>T (p.Ile741=)
c.-717A>T (n.-717A>T)
5g.177211679dupCA2695202833NSD1c.2407dup (p.Met803AsnfsTer7)
n.612+7387dup
n.2863dup
c.2971dup (p.Met991AsnfsTer7)
n.2677dup
c.3280dup (p.Met1094AsnfsTer7)
n.3427dup
c.2473dup (p.Met825AsnfsTer7)
c.2860dup (p.Met954AsnfsTer7)
c.2224dup (p.Met742AsnfsTer7)
c.-716dup (n.-716dup)
5g.177211679A>CCA362323386NSD1c.2407A>C (p.Met803Leu)
n.612+7387A>C
n.2863A>C
c.2971A>C (p.Met991Leu)
n.2677A>C
c.3280A>C (p.Met1094Leu)
n.3427A>C
c.2473A>C (p.Met825Leu)
c.2860A>C (p.Met954Leu)
c.2224A>C (p.Met742Leu)
c.-716A>C (n.-716A>C)
5g.177211679A>GCA362323391NSD1c.2407A>G (p.Met803Val)
n.612+7387A>G
n.2863A>G
c.2971A>G (p.Met991Val)
n.2677A>G
c.3280A>G (p.Met1094Val)
n.3427A>G
c.2473A>G (p.Met825Val)
c.2860A>G (p.Met954Val)
c.2224A>G (p.Met742Val)
c.-716A>G (n.-716A>G)
5g.177211679A>TCA362323389NSD1c.2407A>T (p.Met803Leu)
n.612+7387A>T
n.2863A>T
c.2971A>T (p.Met991Leu)
n.2677A>T
c.3280A>T (p.Met1094Leu)
n.3427A>T
c.2473A>T (p.Met825Leu)
c.2860A>T (p.Met954Leu)
c.2224A>T (p.Met742Leu)
c.-716A>T (n.-716A>T)
5g.177211680T>ACA362323396NSD1c.2408T>A (p.Met803Lys)
n.612+7388T>A
n.2864T>A
c.2972T>A (p.Met991Lys)
n.2678T>A
c.3281T>A (p.Met1094Lys)
n.3428T>A
c.2474T>A (p.Met825Lys)
c.2861T>A (p.Met954Lys)
c.2225T>A (p.Met742Lys)
c.-715T>A (n.-715T>A)
5g.177211680T>CCA3577410NSD1c.2408T>C (p.Met803Thr)
n.612+7388T>C
n.2864T>C
c.2972T>C (p.Met991Thr)
n.2678T>C
c.3281T>C (p.Met1094Thr)
n.3428T>C
c.2474T>C (p.Met825Thr)
c.2861T>C (p.Met954Thr)
c.2225T>C (p.Met742Thr)
c.-715T>C (n.-715T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177211680T>GCA362323401NSD1c.2408T>G (p.Met803Arg)
n.612+7388T>G
n.2864T>G
c.2972T>G (p.Met991Arg)
n.2678T>G
c.3281T>G (p.Met1094Arg)
n.3428T>G
c.2474T>G (p.Met825Arg)
c.2861T>G (p.Met954Arg)
c.2225T>G (p.Met742Arg)
c.-715T>G (n.-715T>G)
5g.177211680T=CA1603478638NSD1c.2408T= (p.Met803=)
n.612+7388T=
n.2864T=
c.2972T= (p.Met991=)
n.2678T=
c.3281T= (p.Met1094=)
n.3428T=
c.2474T= (p.Met825=)
c.2861T= (p.Met954=)
c.2225T= (p.Met742=)
c.-715T= (n.-715T=)
5g.177211681G>ACA132831250NSD1c.2409G>A (p.Met803Ile)
n.612+7389G>A
n.2865G>A
c.2973G>A (p.Met991Ile)
n.2679G>A
c.3282G>A (p.Met1094Ile)
n.3429G>A
c.2475G>A (p.Met825Ile)
c.2862G>A (p.Met954Ile)
c.2226G>A (p.Met742Ile)
c.-714G>A (n.-714G>A)
 dbSNP gnomAD v4
5g.177211681G>CCA362323408NSD1c.2409G>C (p.Met803Ile)
n.612+7389G>C
n.2865G>C
c.2973G>C (p.Met991Ile)
n.2679G>C
c.3282G>C (p.Met1094Ile)
n.3429G>C
c.2475G>C (p.Met825Ile)
c.2862G>C (p.Met954Ile)
c.2226G>C (p.Met742Ile)
c.-714G>C (n.-714G>C)
5g.177211681G=CA1603478647NSD1c.2409G= (p.Met803=)
n.612+7389G=
n.2865G=
c.2973G= (p.Met991=)
n.2679G=
c.3282G= (p.Met1094=)
n.3429G=
c.2475G= (p.Met825=)
c.2862G= (p.Met954=)
c.2226G= (p.Met742=)
c.-714G= (n.-714G=)
5g.177211681G>TCA362323411NSD1c.2409G>T (p.Met803Ile)
n.612+7389G>T
n.2865G>T
c.2973G>T (p.Met991Ile)
n.2679G>T
c.3282G>T (p.Met1094Ile)
n.3429G>T
c.2475G>T (p.Met825Ile)
c.2862G>T (p.Met954Ile)
c.2226G>T (p.Met742Ile)
c.-714G>T (n.-714G>T)
 dbSNP
5g.177211683delCA2695202834NSD1c.2411del (p.Gly804AlafsTer3)
n.612+7391del
n.2867del
c.2975del (p.Gly992AlafsTer3)
n.2681del
c.3284del (p.Gly1095AlafsTer3)
n.3431del
c.2477del (p.Gly826AlafsTer3)
c.2864del (p.Gly955AlafsTer3)
c.2228del (p.Gly743AlafsTer3)
c.-712del (n.-712del)
5g.177211681_177211682insATTCA2676687585NSD1c.2409_2410insATT (p.Met803_Gly804insIle)
n.612+7389_612+7390insATT
n.2865_2866insATT
c.2973_2974insATT (p.Met991_Gly992insIle)
n.2679_2680insATT
c.3282_3283insATT (p.Met1094_Gly1095insIle)
n.3429_3430insATT
c.2475_2476insATT (p.Met825_Gly826insIle)
c.2862_2863insATT (p.Met954_Gly955insIle)
c.2226_2227insATT (p.Met742_Gly743insIle)
c.-714_-713insATT (n.-714_-713insATT)
 gnomAD v4
5g.177211682G>ACA362323414NSD1c.2410G>A (p.Gly804Ser)
n.612+7390G>A
n.2866G>A
c.2974G>A (p.Gly992Ser)
n.2680G>A
c.3283G>A (p.Gly1095Ser)
n.3430G>A
c.2476G>A (p.Gly826Ser)
c.2863G>A (p.Gly955Ser)
c.2227G>A (p.Gly743Ser)
c.-713G>A (n.-713G>A)
 gnomAD v4
5g.177211682G>CCA362323417NSD1c.2410G>C (p.Gly804Arg)
n.612+7390G>C
n.2866G>C
c.2974G>C (p.Gly992Arg)
n.2680G>C
c.3283G>C (p.Gly1095Arg)
n.3430G>C
c.2476G>C (p.Gly826Arg)
c.2863G>C (p.Gly955Arg)
c.2227G>C (p.Gly743Arg)
c.-713G>C (n.-713G>C)
5g.177211682G>TCA362323419NSD1c.2410G>T (p.Gly804Cys)
n.612+7390G>T
n.2866G>T
c.2974G>T (p.Gly992Cys)
n.2680G>T
c.3283G>T (p.Gly1095Cys)
n.3430G>T
c.2476G>T (p.Gly826Cys)
c.2863G>T (p.Gly955Cys)
c.2227G>T (p.Gly743Cys)
c.-713G>T (n.-713G>T)
5g.177211683G>ACA362323426NSD1c.2411G>A (p.Gly804Asp)
n.612+7391G>A
n.2867G>A
c.2975G>A (p.Gly992Asp)
n.2681G>A
c.3284G>A (p.Gly1095Asp)
n.3431G>A
c.2477G>A (p.Gly826Asp)
c.2864G>A (p.Gly955Asp)
c.2228G>A (p.Gly743Asp)
c.-712G>A (n.-712G>A)
 dbSNP gnomAD v4
5g.177211683G>CCA362323427NSD1c.2411G>C (p.Gly804Ala)
n.612+7391G>C
n.2867G>C
c.2975G>C (p.Gly992Ala)
n.2681G>C
c.3284G>C (p.Gly1095Ala)
n.3431G>C
c.2477G>C (p.Gly826Ala)
c.2864G>C (p.Gly955Ala)
c.2228G>C (p.Gly743Ala)
c.-712G>C (n.-712G>C)
5g.177211683G=CA1603478659NSD1c.2411G= (p.Gly804=)
n.612+7391G=
n.2867G=
c.2975G= (p.Gly992=)
n.2681G=
c.3284G= (p.Gly1095=)
n.3431G=
c.2477G= (p.Gly826=)
c.2864G= (p.Gly955=)
c.2228G= (p.Gly743=)
c.-712G= (n.-712G=)
5g.177211683G>TCA362323425NSD1c.2411G>T (p.Gly804Val)
n.612+7391G>T
n.2867G>T
c.2975G>T (p.Gly992Val)
n.2681G>T
c.3284G>T (p.Gly1095Val)
n.3431G>T
c.2477G>T (p.Gly826Val)
c.2864G>T (p.Gly955Val)
c.2228G>T (p.Gly743Val)
c.-712G>T (n.-712G>T)
 dbSNP gnomAD v3 gnomAD v4
5g.177211684C>ACA447960979NSD1c.2412C>A (p.Gly804=)
n.612+7392C>A
n.2868C>A
c.2976C>A (p.Gly992=)
n.2682C>A
c.3285C>A (p.Gly1095=)
n.3432C>A
c.2478C>A (p.Gly826=)
c.2865C>A (p.Gly955=)
c.2229C>A (p.Gly743=)
c.-711C>A (n.-711C>A)
5g.177211684C=CA1603478664NSD1c.2412C= (p.Gly804=)
n.612+7392C=
n.2868C=
c.2976C= (p.Gly992=)
n.2682C=
c.3285C= (p.Gly1095=)
n.3432C=
c.2478C= (p.Gly826=)
c.2865C= (p.Gly955=)
c.2229C= (p.Gly743=)
c.-711C= (n.-711C=)
5g.177211684C>GCA447960980NSD1c.2412C>G (p.Gly804=)
n.612+7392C>G
n.2868C>G
c.2976C>G (p.Gly992=)
n.2682C>G
c.3285C>G (p.Gly1095=)
n.3432C>G
c.2478C>G (p.Gly826=)
c.2865C>G (p.Gly955=)
c.2229C>G (p.Gly743=)
c.-711C>G (n.-711C>G)
5g.177211684C>TCA447960981NSD1c.2412C>T (p.Gly804=)
n.612+7392C>T
n.2868C>T
c.2976C>T (p.Gly992=)
n.2682C>T
c.3285C>T (p.Gly1095=)
n.3432C>T
c.2478C>T (p.Gly826=)
c.2865C>T (p.Gly955=)
c.2229C>T (p.Gly743=)
c.-711C>T (n.-711C>T)
 dbSNP gnomAD v4
5g.177211685C>ACA362323428NSD1c.2413C>A (p.His805Asn)
n.612+7393C>A
n.2869C>A
c.2977C>A (p.His993Asn)
n.2683C>A
c.3286C>A (p.His1096Asn)
n.3433C>A
c.2479C>A (p.His827Asn)
c.2866C>A (p.His956Asn)
c.2230C>A (p.His744Asn)
c.-710C>A (n.-710C>A)
5g.177211685C=CA1603478668NSD1c.2413C= (p.His805=)
n.612+7393C=
n.2869C=
c.2977C= (p.His993=)
n.2683C=
c.3286C= (p.His1096=)
n.3433C=
c.2479C= (p.His827=)
c.2866C= (p.His956=)
c.2230C= (p.His744=)
c.-710C= (n.-710C=)
5g.177211685C>GCA362323429NSD1c.2413C>G (p.His805Asp)
n.612+7393C>G
n.2869C>G
c.2977C>G (p.His993Asp)
n.2683C>G
c.3286C>G (p.His1096Asp)
n.3433C>G
c.2479C>G (p.His827Asp)
c.2866C>G (p.His956Asp)
c.2230C>G (p.His744Asp)
c.-710C>G (n.-710C>G)
5g.177211685C>TCA3577411NSD1c.2413C>T (p.His805Tyr)
n.612+7393C>T
n.2869C>T
c.2977C>T (p.His993Tyr)
n.2683C>T
c.3286C>T (p.His1096Tyr)
n.3433C>T
c.2479C>T (p.His827Tyr)
c.2866C>T (p.His956Tyr)
c.2230C>T (p.His744Tyr)
c.-710C>T (n.-710C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211686A>CCA362323433NSD1c.2414A>C (p.His805Pro)
n.612+7394A>C
n.2870A>C
c.2978A>C (p.His993Pro)
n.2684A>C
c.3287A>C (p.His1096Pro)
n.3434A>C
c.2480A>C (p.His827Pro)
c.2867A>C (p.His956Pro)
c.2231A>C (p.His744Pro)
c.-709A>C (n.-709A>C)
5g.177211686A>GCA362323437NSD1c.2414A>G (p.His805Arg)
n.612+7394A>G
n.2870A>G
c.2978A>G (p.His993Arg)
n.2684A>G
c.3287A>G (p.His1096Arg)
n.3434A>G
c.2480A>G (p.His827Arg)
c.2867A>G (p.His956Arg)
c.2231A>G (p.His744Arg)
c.-709A>G (n.-709A>G)
5g.177211686A>TCA362323440NSD1c.2414A>T (p.His805Leu)
n.612+7394A>T
n.2870A>T
c.2978A>T (p.His993Leu)
n.2684A>T
c.3287A>T (p.His1096Leu)
n.3434A>T
c.2480A>T (p.His827Leu)
c.2867A>T (p.His956Leu)
c.2231A>T (p.His744Leu)
c.-709A>T (n.-709A>T)
5g.177211687C>ACA362323441NSD1c.2415C>A (p.His805Gln)
n.612+7395C>A
n.2871C>A
c.2979C>A (p.His993Gln)
n.2685C>A
c.3288C>A (p.His1096Gln)
n.3435C>A
c.2481C>A (p.His827Gln)
c.2868C>A (p.His956Gln)
c.2232C>A (p.His744Gln)
c.-708C>A (n.-708C>A)
 gnomAD v4
5g.177211687C=CA1603478672NSD1c.2415C= (p.His805=)
n.612+7395C=
n.2871C=
c.2979C= (p.His993=)
n.2685C=
c.3288C= (p.His1096=)
n.3435C=
c.2481C= (p.His827=)
c.2868C= (p.His956=)
c.2232C= (p.His744=)
c.-708C= (n.-708C=)
5g.177211687C>GCA362323442NSD1c.2415C>G (p.His805Gln)
n.612+7395C>G
n.2871C>G
c.2979C>G (p.His993Gln)
n.2685C>G
c.3288C>G (p.His1096Gln)
n.3435C>G
c.2481C>G (p.His827Gln)
c.2868C>G (p.His956Gln)
c.2232C>G (p.His744Gln)
c.-708C>G (n.-708C>G)
 dbSNP
5g.177211687C>TCA447960984NSD1c.2415C>T (p.His805=)
n.612+7395C>T
n.2871C>T
c.2979C>T (p.His993=)
n.2685C>T
c.3288C>T (p.His1096=)
n.3435C>T
c.2481C>T (p.His827=)
c.2868C>T (p.His956=)
c.2232C>T (p.His744=)
c.-708C>T (n.-708C>T)
 dbSNP
5g.177211688T>ACA362323444NSD1c.2416T>A (p.Leu806Ile)
n.612+7396T>A
n.2872T>A
c.2980T>A (p.Leu994Ile)
n.2686T>A
c.3289T>A (p.Leu1097Ile)
n.3436T>A
c.2482T>A (p.Leu828Ile)
c.2869T>A (p.Leu957Ile)
c.2233T>A (p.Leu745Ile)
c.-707T>A (n.-707T>A)
5g.177211688T>CCA447960985NSD1c.2416T>C (p.Leu806=)
n.612+7396T>C
n.2872T>C
c.2980T>C (p.Leu994=)
n.2686T>C
c.3289T>C (p.Leu1097=)
n.3436T>C
c.2482T>C (p.Leu828=)
c.2869T>C (p.Leu957=)
c.2233T>C (p.Leu745=)
c.-707T>C (n.-707T>C)
 gnomAD v4
5g.177211688T>GCA362323446NSD1c.2416T>G (p.Leu806Val)
n.612+7396T>G
n.2872T>G
c.2980T>G (p.Leu994Val)
n.2686T>G
c.3289T>G (p.Leu1097Val)
n.3436T>G
c.2482T>G (p.Leu828Val)
c.2869T>G (p.Leu957Val)
c.2233T>G (p.Leu745Val)
c.-707T>G (n.-707T>G)
 dbSNP gnomAD v3 gnomAD v4
5g.177211688T=CA1603478676NSD1c.2416T= (p.Leu806=)
n.612+7396T=
n.2872T=
c.2980T= (p.Leu994=)
n.2686T=
c.3289T= (p.Leu1097=)
n.3436T=
c.2482T= (p.Leu828=)
c.2869T= (p.Leu957=)
c.2233T= (p.Leu745=)
c.-707T= (n.-707T=)
5g.177211689T>ACA362323449NSD1c.2417T>A (p.Leu806Ter)
n.612+7397T>A
n.2873T>A
c.2981T>A (p.Leu994Ter)
n.2687T>A
c.3290T>A (p.Leu1097Ter)
n.3437T>A
c.2483T>A (p.Leu828Ter)
c.2870T>A (p.Leu957Ter)
c.2234T>A (p.Leu745Ter)
c.-706T>A (n.-706T>A)
 ClinVar dbSNP
5g.177211689T>CCA362323452NSD1c.2417T>C (p.Leu806Ser)
n.612+7397T>C
n.2873T>C
c.2981T>C (p.Leu994Ser)
n.2687T>C
c.3290T>C (p.Leu1097Ser)
n.3437T>C
c.2483T>C (p.Leu828Ser)
c.2870T>C (p.Leu957Ser)
c.2234T>C (p.Leu745Ser)
c.-706T>C (n.-706T>C)
5g.177211689T>GCA362323454NSD1c.2417T>G (p.Leu806Ter)
n.612+7397T>G
n.2873T>G
c.2981T>G (p.Leu994Ter)
n.2687T>G
c.3290T>G (p.Leu1097Ter)
n.3437T>G
c.2483T>G (p.Leu828Ter)
c.2870T>G (p.Leu957Ter)
c.2234T>G (p.Leu745Ter)
c.-706T>G (n.-706T>G)
5g.177211689T=CA1603478681NSD1c.2417T= (p.Leu806=)
n.612+7397T=
n.2873T=
c.2981T= (p.Leu994=)
n.2687T=
c.3290T= (p.Leu1097=)
n.3437T=
c.2483T= (p.Leu828=)
c.2870T= (p.Leu957=)
c.2234T= (p.Leu745=)
c.-706T= (n.-706T=)
5g.177211690A>CCA362323460NSD1c.2418A>C (p.Leu806Phe)
n.612+7398A>C
n.2874A>C
c.2982A>C (p.Leu994Phe)
n.2688A>C
c.3291A>C (p.Leu1097Phe)
n.3438A>C
c.2484A>C (p.Leu828Phe)
c.2871A>C (p.Leu957Phe)
c.2235A>C (p.Leu745Phe)
c.-705A>C (n.-705A>C)
5g.177211690A>GCA447960987NSD1c.2418A>G (p.Leu806=)
n.612+7398A>G
n.2874A>G
c.2982A>G (p.Leu994=)
n.2688A>G
c.3291A>G (p.Leu1097=)
n.3438A>G
c.2484A>G (p.Leu828=)
c.2871A>G (p.Leu957=)
c.2235A>G (p.Leu745=)
c.-705A>G (n.-705A>G)
5g.177211690A>TCA362323459NSD1c.2418A>T (p.Leu806Phe)
n.612+7398A>T
n.2874A>T
c.2982A>T (p.Leu994Phe)
n.2688A>T
c.3291A>T (p.Leu1097Phe)
n.3438A>T
c.2484A>T (p.Leu828Phe)
c.2871A>T (p.Leu957Phe)
c.2235A>T (p.Leu745Phe)
c.-705A>T (n.-705A>T)
5g.177211691dupCA2695202835NSD1c.2419dup (p.Thr807AsnfsTer3)
n.612+7399dup
n.2875dup
c.2983dup (p.Thr995AsnfsTer3)
n.2689dup
c.3292dup (p.Thr1098AsnfsTer3)
n.3439dup
c.2485dup (p.Thr829AsnfsTer3)
c.2872dup (p.Thr958AsnfsTer3)
c.2236dup (p.Thr746AsnfsTer3)
c.-704dup (n.-704dup)
5g.177211691A=CA1603478689NSD1c.2419A= (p.Thr807=)
n.612+7399A=
n.2875A=
c.2983A= (p.Thr995=)
n.2689A=
c.3292A= (p.Thr1098=)
n.3439A=
c.2485A= (p.Thr829=)
c.2872A= (p.Thr958=)
c.2236A= (p.Thr746=)
c.-704A= (n.-704A=)
5g.177211691A>CCA362323463NSD1c.2419A>C (p.Thr807Pro)
n.612+7399A>C
n.2875A>C
c.2983A>C (p.Thr995Pro)
n.2689A>C
c.3292A>C (p.Thr1098Pro)
n.3439A>C
c.2485A>C (p.Thr829Pro)
c.2872A>C (p.Thr958Pro)
c.2236A>C (p.Thr746Pro)
c.-704A>C (n.-704A>C)
5g.177211691A>GCA3577412NSD1c.2419A>G (p.Thr807Ala)
n.612+7399A>G
n.2875A>G
c.2983A>G (p.Thr995Ala)
n.2689A>G
c.3292A>G (p.Thr1098Ala)
n.3439A>G
c.2485A>G (p.Thr829Ala)
c.2872A>G (p.Thr958Ala)
c.2236A>G (p.Thr746Ala)
c.-704A>G (n.-704A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211691A>TCA362323466NSD1c.2419A>T (p.Thr807Ser)
n.612+7399A>T
n.2875A>T
c.2983A>T (p.Thr995Ser)
n.2689A>T
c.3292A>T (p.Thr1098Ser)
n.3439A>T
c.2485A>T (p.Thr829Ser)
c.2872A>T (p.Thr958Ser)
c.2236A>T (p.Thr746Ser)
c.-704A>T (n.-704A>T)
5g.177211691_177211692delinsACCA1603478690NSD1c.2419_2420delinsAC (p.Thr807=)
n.612+7399_612+7400delinsAC
n.2875_2876delinsAC
c.2983_2984delinsAC (p.Thr995=)
n.2689_2690delinsAC
c.3292_3293delinsAC (p.Thr1098=)
n.3439_3440delinsAC
c.2485_2486delinsAC (p.Thr829=)
c.2872_2873delinsAC (p.Thr958=)
c.2236_2237delinsAC (p.Thr746=)
c.-704_-703delinsAC (n.-704_-703delinsAC)
5g.177211692delCA294849NSD1c.2420del (p.Thr807LysfsTer?)
n.612+7400del
n.2876del
c.2984del (p.Thr995LysfsTer?)
n.2690del
c.3293del (p.Thr1098LysfsTer?)
n.3440del
c.2486del (p.Thr829LysfsTer?)
c.2873del (p.Thr958LysfsTer?)
c.2237del (p.Thr746LysfsTer?)
c.-703del (n.-703del)
 ClinVar dbSNP
5g.177211692C>ACA362323473NSD1c.2420C>A (p.Thr807Lys)
n.612+7400C>A
n.2876C>A
c.2984C>A (p.Thr995Lys)
n.2690C>A
c.3293C>A (p.Thr1098Lys)
n.3440C>A
c.2486C>A (p.Thr829Lys)
c.2873C>A (p.Thr958Lys)
c.2237C>A (p.Thr746Lys)
c.-703C>A (n.-703C>A)
5g.177211692C>GCA362323474NSD1c.2420C>G (p.Thr807Arg)
n.612+7400C>G
n.2876C>G
c.2984C>G (p.Thr995Arg)
n.2690C>G
c.3293C>G (p.Thr1098Arg)
n.3440C>G
c.2486C>G (p.Thr829Arg)
c.2873C>G (p.Thr958Arg)
c.2237C>G (p.Thr746Arg)
c.-703C>G (n.-703C>G)
 dbSNP
5g.177211692C>TCA362323475NSD1c.2420C>T (p.Thr807Ile)
n.612+7400C>T
n.2876C>T
c.2984C>T (p.Thr995Ile)
n.2690C>T
c.3293C>T (p.Thr1098Ile)
n.3440C>T
c.2486C>T (p.Thr829Ile)
c.2873C>T (p.Thr958Ile)
c.2237C>T (p.Thr746Ile)
c.-703C>T (n.-703C>T)
5g.177211692_177211693delinsCACA1603478695NSD1c.2420_2421delinsCA (p.Thr807=)
n.612+7400_612+7401delinsCA
n.2876_2877delinsCA
c.2984_2985delinsCA (p.Thr995=)
n.2690_2691delinsCA
c.3293_3294delinsCA (p.Thr1098=)
n.3440_3441delinsCA
c.2486_2487delinsCA (p.Thr829=)
c.2873_2874delinsCA (p.Thr958=)
c.2237_2238delinsCA (p.Thr746=)
c.-703_-702delinsCA (n.-703_-702delinsCA)
5g.177211693A=CA1603478698NSD1c.2421A= (p.Thr807=)
n.612+7401A=
n.2877A=
c.2985A= (p.Thr995=)
n.2691A=
c.3294A= (p.Thr1098=)
n.3441A=
c.2487A= (p.Thr829=)
c.2874A= (p.Thr958=)
c.2238A= (p.Thr746=)
c.-702A= (n.-702A=)
5g.177211693A>CCA447960990NSD1c.2421A>C (p.Thr807=)
n.612+7401A>C
n.2877A>C
c.2985A>C (p.Thr995=)
n.2691A>C
c.3294A>C (p.Thr1098=)
n.3441A>C
c.2487A>C (p.Thr829=)
c.2874A>C (p.Thr958=)
c.2238A>C (p.Thr746=)
c.-702A>C (n.-702A>C)
5g.177211693A>GCA447960991NSD1c.2421A>G (p.Thr807=)
n.612+7401A>G
n.2877A>G
c.2985A>G (p.Thr995=)
n.2691A>G
c.3294A>G (p.Thr1098=)
n.3441A>G
c.2487A>G (p.Thr829=)
c.2874A>G (p.Thr958=)
c.2238A>G (p.Thr746=)
c.-702A>G (n.-702A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.177211693A>TCA447960992NSD1c.2421A>T (p.Thr807=)
n.612+7401A>T
n.2877A>T
c.2985A>T (p.Thr995=)
n.2691A>T
c.3294A>T (p.Thr1098=)
n.3441A>T
c.2487A>T (p.Thr829=)
c.2874A>T (p.Thr958=)
c.2238A>T (p.Thr746=)
c.-702A>T (n.-702A>T)
5g.177211694delCA294850NSD1c.2422del (p.Ser808ValfsTer?)
n.612+7402del
n.2878del
c.2986del (p.Ser996ValfsTer?)
n.2692del
c.3295del (p.Ser1099ValfsTer?)
n.3442del
c.2488del (p.Ser830ValfsTer?)
c.2875del (p.Ser959ValfsTer?)
c.2239del (p.Ser747ValfsTer?)
c.-701del (n.-701del)
 ClinVar dbSNP
5g.177211694A=CA1603478700NSD1c.2422A= (p.Ser808=)
n.612+7402A=
n.2878A=
c.2986A= (p.Ser996=)
n.2692A=
c.3295A= (p.Ser1099=)
n.3442A=
c.2488A= (p.Ser830=)
c.2875A= (p.Ser959=)
c.2239A= (p.Ser747=)
c.-701A= (n.-701A=)
5g.177211694A>CCA362323486NSD1c.2422A>C (p.Ser808Arg)
n.612+7402A>C
n.2878A>C
c.2986A>C (p.Ser996Arg)
n.2692A>C
c.3295A>C (p.Ser1099Arg)
n.3442A>C
c.2488A>C (p.Ser830Arg)
c.2875A>C (p.Ser959Arg)
c.2239A>C (p.Ser747Arg)
c.-701A>C (n.-701A>C)
 gnomAD v4
5g.177211694A>GCA362323487NSD1c.2422A>G (p.Ser808Gly)
n.612+7402A>G
n.2878A>G
c.2986A>G (p.Ser996Gly)
n.2692A>G
c.3295A>G (p.Ser1099Gly)
n.3442A>G
c.2488A>G (p.Ser830Gly)
c.2875A>G (p.Ser959Gly)
c.2239A>G (p.Ser747Gly)
c.-701A>G (n.-701A>G)
 dbSNP gnomAD v4
5g.177211694A>TCA362323489NSD1c.2422A>T (p.Ser808Cys)
n.612+7402A>T
n.2878A>T
c.2986A>T (p.Ser996Cys)
n.2692A>T
c.3295A>T (p.Ser1099Cys)
n.3442A>T
c.2488A>T (p.Ser830Cys)
c.2875A>T (p.Ser959Cys)
c.2239A>T (p.Ser747Cys)
c.-701A>T (n.-701A>T)
 dbSNP gnomAD v4
5g.177211695G>ACA362323491NSD1c.2423G>A (p.Ser808Asn)
n.612+7403G>A
n.2879G>A
c.2987G>A (p.Ser996Asn)
n.2693G>A
c.3296G>A (p.Ser1099Asn)
n.3443G>A
c.2489G>A (p.Ser830Asn)
c.2876G>A (p.Ser959Asn)
c.2240G>A (p.Ser747Asn)
c.-700G>A (n.-700G>A)
5g.177211695G>CCA362323494NSD1c.2423G>C (p.Ser808Thr)
n.612+7403G>C
n.2879G>C
c.2987G>C (p.Ser996Thr)
n.2693G>C
c.3296G>C (p.Ser1099Thr)
n.3443G>C
c.2489G>C (p.Ser830Thr)
c.2876G>C (p.Ser959Thr)
c.2240G>C (p.Ser747Thr)
c.-700G>C (n.-700G>C)
5g.177211695G>TCA362323500NSD1c.2423G>T (p.Ser808Ile)
n.612+7403G>T
n.2879G>T
c.2987G>T (p.Ser996Ile)
n.2693G>T
c.3296G>T (p.Ser1099Ile)
n.3443G>T
c.2489G>T (p.Ser830Ile)
c.2876G>T (p.Ser959Ile)
c.2240G>T (p.Ser747Ile)
c.-700G>T (n.-700G>T)
5g.177211696T>ACA362323503NSD1c.2424T>A (p.Ser808Arg)
n.612+7404T>A
n.2880T>A
c.2988T>A (p.Ser996Arg)
n.2694T>A
c.3297T>A (p.Ser1099Arg)
n.3444T>A
c.2490T>A (p.Ser830Arg)
c.2877T>A (p.Ser959Arg)
c.2241T>A (p.Ser747Arg)
c.-699T>A (n.-699T>A)
 dbSNP
5g.177211696T>CCA447961057NSD1c.2424T>C (p.Ser808=)
n.612+7404T>C
n.2880T>C
c.2988T>C (p.Ser996=)
n.2694T>C
c.3297T>C (p.Ser1099=)
n.3444T>C
c.2490T>C (p.Ser830=)
c.2877T>C (p.Ser959=)
c.2241T>C (p.Ser747=)
c.-699T>C (n.-699T>C)
5g.177211696T>GCA362323504NSD1c.2424T>G (p.Ser808Arg)
n.612+7404T>G
n.2880T>G
c.2988T>G (p.Ser996Arg)
n.2694T>G
c.3297T>G (p.Ser1099Arg)
n.3444T>G
c.2490T>G (p.Ser830Arg)
c.2877T>G (p.Ser959Arg)
c.2241T>G (p.Ser747Arg)
c.-699T>G (n.-699T>G)
5g.177211697G>ACA362323509NSD1c.2425G>A (p.Glu809Lys)
n.612+7405G>A
n.2881G>A
c.2989G>A (p.Glu997Lys)
n.2695G>A
c.3298G>A (p.Glu1100Lys)
n.3445G>A
c.2491G>A (p.Glu831Lys)
c.2878G>A (p.Glu960Lys)
c.2242G>A (p.Glu748Lys)
c.-698G>A (n.-698G>A)
5g.177211697G>CCA362323514NSD1c.2425G>C (p.Glu809Gln)
n.612+7405G>C
n.2881G>C
c.2989G>C (p.Glu997Gln)
n.2695G>C
c.3298G>C (p.Glu1100Gln)
n.3445G>C
c.2491G>C (p.Glu831Gln)
c.2878G>C (p.Glu960Gln)
c.2242G>C (p.Glu748Gln)
c.-698G>C (n.-698G>C)
5g.177211697G>TCA362323512NSD1c.2425G>T (p.Glu809Ter)
n.612+7405G>T
n.2881G>T
c.2989G>T (p.Glu997Ter)
n.2695G>T
c.3298G>T (p.Glu1100Ter)
n.3445G>T
c.2491G>T (p.Glu831Ter)
c.2878G>T (p.Glu960Ter)
c.2242G>T (p.Glu748Ter)
c.-698G>T (n.-698G>T)
5g.177211698A>CCA362323519NSD1c.2426A>C (p.Glu809Ala)
n.612+7406A>C
n.2882A>C
c.2990A>C (p.Glu997Ala)
n.2696A>C
c.3299A>C (p.Glu1100Ala)
n.3446A>C
c.2492A>C (p.Glu831Ala)
c.2879A>C (p.Glu960Ala)
c.2243A>C (p.Glu748Ala)
c.-697A>C (n.-697A>C)
5g.177211698A>GCA362323525NSD1c.2426A>G (p.Glu809Gly)
n.612+7406A>G
n.2882A>G
c.2990A>G (p.Glu997Gly)
n.2696A>G
c.3299A>G (p.Glu1100Gly)
n.3446A>G
c.2492A>G (p.Glu831Gly)
c.2879A>G (p.Glu960Gly)
c.2243A>G (p.Glu748Gly)
c.-697A>G (n.-697A>G)
5g.177211698A>TCA362323522NSD1c.2426A>T (p.Glu809Val)
n.612+7406A>T
n.2882A>T
c.2990A>T (p.Glu997Val)
n.2696A>T
c.3299A>T (p.Glu1100Val)
n.3446A>T
c.2492A>T (p.Glu831Val)
c.2879A>T (p.Glu960Val)
c.2243A>T (p.Glu748Val)
c.-697A>T (n.-697A>T)
5g.177211699A>CCA362323532NSD1c.2427A>C (p.Glu809Asp)
n.612+7407A>C
n.2883A>C
c.2991A>C (p.Glu997Asp)
n.2697A>C
c.3300A>C (p.Glu1100Asp)
n.3447A>C
c.2493A>C (p.Glu831Asp)
c.2880A>C (p.Glu960Asp)
c.2244A>C (p.Glu748Asp)
c.-696A>C (n.-696A>C)
5g.177211699A>GCA447961058NSD1c.2427A>G (p.Glu809=)
n.612+7407A>G
n.2883A>G
c.2991A>G (p.Glu997=)
n.2697A>G
c.3300A>G (p.Glu1100=)
n.3447A>G
c.2493A>G (p.Glu831=)
c.2880A>G (p.Glu960=)
c.2244A>G (p.Glu748=)
c.-696A>G (n.-696A>G)
5g.177211699A>TCA362323533NSD1c.2427A>T (p.Glu809Asp)
n.612+7407A>T
n.2883A>T
c.2991A>T (p.Glu997Asp)
n.2697A>T
c.3300A>T (p.Glu1100Asp)
n.3447A>T
c.2493A>T (p.Glu831Asp)
c.2880A>T (p.Glu960Asp)
c.2244A>T (p.Glu748Asp)
c.-696A>T (n.-696A>T)
5g.177211700G>ACA362323537NSD1c.2428G>A (p.Asp810Asn)
n.612+7408G>A
n.2884G>A
c.2992G>A (p.Asp998Asn)
n.2698G>A
c.3301G>A (p.Asp1101Asn)
n.3448G>A
c.2494G>A (p.Asp832Asn)
c.2881G>A (p.Asp961Asn)
c.2245G>A (p.Asp749Asn)
c.-695G>A (n.-695G>A)
 gnomAD v4
5g.177211700G>CCA362323538NSD1c.2428G>C (p.Asp810His)
n.612+7408G>C
n.2884G>C
c.2992G>C (p.Asp998His)
n.2698G>C
c.3301G>C (p.Asp1101His)
n.3448G>C
c.2494G>C (p.Asp832His)
c.2881G>C (p.Asp961His)
c.2245G>C (p.Asp749His)
c.-695G>C (n.-695G>C)
5g.177211700G=CA1603478709NSD1c.2428G= (p.Asp810=)
n.612+7408G=
n.2884G=
c.2992G= (p.Asp998=)
n.2698G=
c.3301G= (p.Asp1101=)
n.3448G=
c.2494G= (p.Asp832=)
c.2881G= (p.Asp961=)
c.2245G= (p.Asp749=)
c.-695G= (n.-695G=)
5g.177211700G>TCA362323539NSD1c.2428G>T (p.Asp810Tyr)
n.612+7408G>T
n.2884G>T
c.2992G>T (p.Asp998Tyr)
n.2698G>T
c.3301G>T (p.Asp1101Tyr)
n.3448G>T
c.2494G>T (p.Asp832Tyr)
c.2881G>T (p.Asp961Tyr)
c.2245G>T (p.Asp749Tyr)
c.-695G>T (n.-695G>T)
 dbSNP gnomAD v4
5g.177211701A=CA1603478712NSD1c.2429A= (p.Asp810=)
n.612+7409A=
n.2885A=
c.2993A= (p.Asp998=)
n.2699A=
c.3302A= (p.Asp1101=)
n.3449A=
c.2495A= (p.Asp832=)
c.2882A= (p.Asp961=)
c.2246A= (p.Asp749=)
c.-694A= (n.-694A=)
5g.177211701A>CCA362323540NSD1c.2429A>C (p.Asp810Ala)
n.612+7409A>C
n.2885A>C
c.2993A>C (p.Asp998Ala)
n.2699A>C
c.3302A>C (p.Asp1101Ala)
n.3449A>C
c.2495A>C (p.Asp832Ala)
c.2882A>C (p.Asp961Ala)
c.2246A>C (p.Asp749Ala)
c.-694A>C (n.-694A>C)
5g.177211701A>GCA362323543NSD1c.2429A>G (p.Asp810Gly)
n.612+7409A>G
n.2885A>G
c.2993A>G (p.Asp998Gly)
n.2699A>G
c.3302A>G (p.Asp1101Gly)
n.3449A>G
c.2495A>G (p.Asp832Gly)
c.2882A>G (p.Asp961Gly)
c.2246A>G (p.Asp749Gly)
c.-694A>G (n.-694A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.177211701A>TCA362323545NSD1c.2429A>T (p.Asp810Val)
n.612+7409A>T
n.2885A>T
c.2993A>T (p.Asp998Val)
n.2699A>T
c.3302A>T (p.Asp1101Val)
n.3449A>T
c.2495A>T (p.Asp832Val)
c.2882A>T (p.Asp961Val)
c.2246A>T (p.Asp749Val)
c.-694A>T (n.-694A>T)
5g.177211702T>ACA132831281NSD1c.2430T>A (p.Asp810Glu)
n.612+7410T>A
n.2886T>A
c.2994T>A (p.Asp998Glu)
n.2700T>A
c.3303T>A (p.Asp1101Glu)
n.3450T>A
c.2496T>A (p.Asp832Glu)
c.2883T>A (p.Asp961Glu)
c.2247T>A (p.Asp749Glu)
c.-693T>A (n.-693T>A)
 dbSNP gnomAD v3 gnomAD v4
5g.177211702T>CCA447961059NSD1c.2430T>C (p.Asp810=)
n.612+7410T>C
n.2886T>C
c.2994T>C (p.Asp998=)
n.2700T>C
c.3303T>C (p.Asp1101=)
n.3450T>C
c.2496T>C (p.Asp832=)
c.2883T>C (p.Asp961=)
c.2247T>C (p.Asp749=)
c.-693T>C (n.-693T>C)
5g.177211702T>GCA362323553NSD1c.2430T>G (p.Asp810Glu)
n.612+7410T>G
n.2886T>G
c.2994T>G (p.Asp998Glu)
n.2700T>G
c.3303T>G (p.Asp1101Glu)
n.3450T>G
c.2496T>G (p.Asp832Glu)
c.2883T>G (p.Asp961Glu)
c.2247T>G (p.Asp749Glu)
c.-693T>G (n.-693T>G)
5g.177211702T=CA1603478714NSD1c.2430T= (p.Asp810=)
n.612+7410T=
n.2886T=
c.2994T= (p.Asp998=)
n.2700T=
c.3303T= (p.Asp1101=)
n.3450T=
c.2496T= (p.Asp832=)
c.2883T= (p.Asp961=)
c.2247T= (p.Asp749=)
c.-693T= (n.-693T=)
5g.177211703G>ACA362323561NSD1c.2431G>A (p.Gly811Ser)
n.612+7411G>A
n.2887G>A
c.2995G>A (p.Gly999Ser)
n.2701G>A
c.3304G>A (p.Gly1102Ser)
n.3451G>A
c.2497G>A (p.Gly833Ser)
c.2884G>A (p.Gly962Ser)
c.2248G>A (p.Gly750Ser)
c.-692G>A (n.-692G>A)
 dbSNP
5g.177211703G>CCA132831291NSD1c.2431G>C (p.Gly811Arg)
n.612+7411G>C
n.2887G>C
c.2995G>C (p.Gly999Arg)
n.2701G>C
c.3304G>C (p.Gly1102Arg)
n.3451G>C
c.2497G>C (p.Gly833Arg)
c.2884G>C (p.Gly962Arg)
c.2248G>C (p.Gly750Arg)
c.-692G>C (n.-692G>C)
 dbSNP
5g.177211703G=CA1603478718NSD1c.2431G= (p.Gly811=)
n.612+7411G=
n.2887G=
c.2995G= (p.Gly999=)
n.2701G=
c.3304G= (p.Gly1102=)
n.3451G=
c.2497G= (p.Gly833=)
c.2884G= (p.Gly962=)
c.2248G= (p.Gly750=)
c.-692G= (n.-692G=)
5g.177211703G>TCA362323556NSD1c.2431G>T (p.Gly811Cys)
n.612+7411G>T
n.2887G>T
c.2995G>T (p.Gly999Cys)
n.2701G>T
c.3304G>T (p.Gly1102Cys)
n.3451G>T
c.2497G>T (p.Gly833Cys)
c.2884G>T (p.Gly962Cys)
c.2248G>T (p.Gly750Cys)
c.-692G>T (n.-692G>T)
5g.177211704G>ACA362323567NSD1c.2432G>A (p.Gly811Asp)
n.612+7412G>A
n.2888G>A
c.2996G>A (p.Gly999Asp)
n.2702G>A
c.3305G>A (p.Gly1102Asp)
n.3452G>A
c.2498G>A (p.Gly833Asp)
c.2885G>A (p.Gly962Asp)
c.2249G>A (p.Gly750Asp)
c.-691G>A (n.-691G>A)
 dbSNP
5g.177211704G>CCA362323569NSD1c.2432G>C (p.Gly811Ala)
n.612+7412G>C
n.2888G>C
c.2996G>C (p.Gly999Ala)
n.2702G>C
c.3305G>C (p.Gly1102Ala)
n.3452G>C
c.2498G>C (p.Gly833Ala)
c.2885G>C (p.Gly962Ala)
c.2249G>C (p.Gly750Ala)
c.-691G>C (n.-691G>C)
 dbSNP
5g.177211704G>TCA362323571NSD1c.2432G>T (p.Gly811Val)
n.612+7412G>T
n.2888G>T
c.2996G>T (p.Gly999Val)
n.2702G>T
c.3305G>T (p.Gly1102Val)
n.3452G>T
c.2498G>T (p.Gly833Val)
c.2885G>T (p.Gly962Val)
c.2249G>T (p.Gly750Val)
c.-691G>T (n.-691G>T)
5g.177211705T>ACA447961060NSD1c.2433T>A (p.Gly811=)
n.612+7413T>A
n.2889T>A
c.2997T>A (p.Gly999=)
n.2703T>A
c.3306T>A (p.Gly1102=)
n.3453T>A
c.2499T>A (p.Gly833=)
c.2886T>A (p.Gly962=)
c.2250T>A (p.Gly750=)
c.-690T>A (n.-690T>A)
5g.177211705T>CCA447961061NSD1c.2433T>C (p.Gly811=)
n.612+7413T>C
n.2889T>C
c.2997T>C (p.Gly999=)
n.2703T>C
c.3306T>C (p.Gly1102=)
n.3453T>C
c.2499T>C (p.Gly833=)
c.2886T>C (p.Gly962=)
c.2250T>C (p.Gly750=)
c.-690T>C (n.-690T>C)
5g.177211705T>GCA447961062NSD1c.2433T>G (p.Gly811=)
n.612+7413T>G
n.2889T>G
c.2997T>G (p.Gly999=)
n.2703T>G
c.3306T>G (p.Gly1102=)
n.3453T>G
c.2499T>G (p.Gly833=)
c.2886T>G (p.Gly962=)
c.2250T>G (p.Gly750=)
c.-690T>G (n.-690T>G)
5g.177211706G>ACA3577413NSD1c.2434G>A (p.Asp812Asn)
n.612+7414G>A
n.2890G>A
c.2998G>A (p.Asp1000Asn)
n.2704G>A
c.3307G>A (p.Asp1103Asn)
n.3454G>A
c.2500G>A (p.Asp834Asn)
c.2887G>A (p.Asp963Asn)
c.2251G>A (p.Asp751Asn)
c.-689G>A (n.-689G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211706G>CCA362323572NSD1c.2434G>C (p.Asp812His)
n.612+7414G>C
n.2890G>C
c.2998G>C (p.Asp1000His)
n.2704G>C
c.3307G>C (p.Asp1103His)
n.3454G>C
c.2500G>C (p.Asp834His)
c.2887G>C (p.Asp963His)
c.2251G>C (p.Asp751His)
c.-689G>C (n.-689G>C)
5g.177211706G=CA1603478723NSD1c.2434G= (p.Asp812=)
n.612+7414G=
n.2890G=
c.2998G= (p.Asp1000=)
n.2704G=
c.3307G= (p.Asp1103=)
n.3454G=
c.2500G= (p.Asp834=)
c.2887G= (p.Asp963=)
c.2251G= (p.Asp751=)
c.-689G= (n.-689G=)
5g.177211706G>TCA362323573NSD1c.2434G>T (p.Asp812Tyr)
n.612+7414G>T
n.2890G>T
c.2998G>T (p.Asp1000Tyr)
n.2704G>T
c.3307G>T (p.Asp1103Tyr)
n.3454G>T
c.2500G>T (p.Asp834Tyr)
c.2887G>T (p.Asp963Tyr)
c.2251G>T (p.Asp751Tyr)
c.-689G>T (n.-689G>T)
 gnomAD v4
5g.177211707A>CCA362323576NSD1c.2435A>C (p.Asp812Ala)
n.612+7415A>C
n.2891A>C
c.2999A>C (p.Asp1000Ala)
n.2705A>C
c.3308A>C (p.Asp1103Ala)
n.3455A>C
c.2501A>C (p.Asp834Ala)
c.2888A>C (p.Asp963Ala)
c.2252A>C (p.Asp751Ala)
c.-688A>C (n.-688A>C)
5g.177211707A>GCA362323577NSD1c.2435A>G (p.Asp812Gly)
n.612+7415A>G
n.2891A>G
c.2999A>G (p.Asp1000Gly)
n.2705A>G
c.3308A>G (p.Asp1103Gly)
n.3455A>G
c.2501A>G (p.Asp834Gly)
c.2888A>G (p.Asp963Gly)
c.2252A>G (p.Asp751Gly)
c.-688A>G (n.-688A>G)
5g.177211707A>TCA362323580NSD1c.2435A>T (p.Asp812Val)
n.612+7415A>T
n.2891A>T
c.2999A>T (p.Asp1000Val)
n.2705A>T
c.3308A>T (p.Asp1103Val)
n.3455A>T
c.2501A>T (p.Asp834Val)
c.2888A>T (p.Asp963Val)
c.2252A>T (p.Asp751Val)
c.-688A>T (n.-688A>T)
5g.177211708C>ACA362323584NSD1c.2436C>A (p.Asp812Glu)
n.612+7416C>A
n.2892C>A
c.3000C>A (p.Asp1000Glu)
n.2706C>A
c.3309C>A (p.Asp1103Glu)
n.3456C>A
c.2502C>A (p.Asp834Glu)
c.2889C>A (p.Asp963Glu)
c.2253C>A (p.Asp751Glu)
c.-687C>A (n.-687C>A)
5g.177211708C=CA1603478728NSD1c.2436C= (p.Asp812=)
n.612+7416C=
n.2892C=
c.3000C= (p.Asp1000=)
n.2706C=
c.3309C= (p.Asp1103=)
n.3456C=
c.2502C= (p.Asp834=)
c.2889C= (p.Asp963=)
c.2253C= (p.Asp751=)
c.-687C= (n.-687C=)
5g.177211708C>GCA132831308NSD1c.2436C>G (p.Asp812Glu)
n.612+7416C>G
n.2892C>G
c.3000C>G (p.Asp1000Glu)
n.2706C>G
c.3309C>G (p.Asp1103Glu)
n.3456C>G
c.2502C>G (p.Asp834Glu)
c.2889C>G (p.Asp963Glu)
c.2253C>G (p.Asp751Glu)
c.-687C>G (n.-687C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211708C>TCA447961063NSD1c.2436C>T (p.Asp812=)
n.612+7416C>T
n.2892C>T
c.3000C>T (p.Asp1000=)
n.2706C>T
c.3309C>T (p.Asp1103=)
n.3456C>T
c.2502C>T (p.Asp834=)
c.2889C>T (p.Asp963=)
c.2253C>T (p.Asp751=)
c.-687C>T (n.-687C>T)
 COSMIC COSMIC
5g.177211709C>ACA362323597NSD1c.2437C>A (p.His813Asn)
n.612+7417C>A
n.2893C>A
c.3001C>A (p.His1001Asn)
n.2707C>A
c.3310C>A (p.His1104Asn)
n.3457C>A
c.2503C>A (p.His835Asn)
c.2890C>A (p.His964Asn)
c.2254C>A (p.His752Asn)
c.-686C>A (n.-686C>A)
5g.177211709C>GCA362323594NSD1c.2437C>G (p.His813Asp)
n.612+7417C>G
n.2893C>G
c.3001C>G (p.His1001Asp)
n.2707C>G
c.3310C>G (p.His1104Asp)
n.3457C>G
c.2503C>G (p.His835Asp)
c.2890C>G (p.His964Asp)
c.2254C>G (p.His752Asp)
c.-686C>G (n.-686C>G)
5g.177211709C>TCA362323591NSD1c.2437C>T (p.His813Tyr)
n.612+7417C>T
n.2893C>T
c.3001C>T (p.His1001Tyr)
n.2707C>T
c.3310C>T (p.His1104Tyr)
n.3457C>T
c.2503C>T (p.His835Tyr)
c.2890C>T (p.His964Tyr)
c.2254C>T (p.His752Tyr)
c.-686C>T (n.-686C>T)
 gnomAD v4
5g.177211710A=CA1603478734NSD1c.2438A= (p.His813=)
n.612+7418A=
n.2894A=
c.3002A= (p.His1001=)
n.2708A=
c.3311A= (p.His1104=)
n.3458A=
c.2504A= (p.His835=)
c.2891A= (p.His964=)
c.2255A= (p.His752=)
c.-685A= (n.-685A=)
5g.177211710A>CCA362323601NSD1c.2438A>C (p.His813Pro)
n.612+7418A>C
n.2894A>C
c.3002A>C (p.His1001Pro)
n.2708A>C
c.3311A>C (p.His1104Pro)
n.3458A>C
c.2504A>C (p.His835Pro)
c.2891A>C (p.His964Pro)
c.2255A>C (p.His752Pro)
c.-685A>C (n.-685A>C)
5g.177211710A>GCA3577414NSD1c.2438A>G (p.His813Arg)
n.612+7418A>G
n.2894A>G
c.3002A>G (p.His1001Arg)
n.2708A>G
c.3311A>G (p.His1104Arg)
n.3458A>G
c.2504A>G (p.His835Arg)
c.2891A>G (p.His964Arg)
c.2255A>G (p.His752Arg)
c.-685A>G (n.-685A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211710A>TCA362323605NSD1c.2438A>T (p.His813Leu)
n.612+7418A>T
n.2894A>T
c.3002A>T (p.His1001Leu)
n.2708A>T
c.3311A>T (p.His1104Leu)
n.3458A>T
c.2504A>T (p.His835Leu)
c.2891A>T (p.His964Leu)
c.2255A>T (p.His752Leu)
c.-685A>T (n.-685A>T)
 dbSNP gnomAD v3 gnomAD v4
5g.177211711T>ACA362323608NSD1c.2439T>A (p.His813Gln)
n.612+7419T>A
n.2895T>A
c.3003T>A (p.His1001Gln)
n.2709T>A
c.3312T>A (p.His1104Gln)
n.3459T>A
c.2505T>A (p.His835Gln)
c.2892T>A (p.His964Gln)
c.2256T>A (p.His752Gln)
c.-684T>A (n.-684T>A)
5g.177211711T>CCA447961064NSD1c.2439T>C (p.His813=)
n.612+7419T>C
n.2895T>C
c.3003T>C (p.His1001=)
n.2709T>C
c.3312T>C (p.His1104=)
n.3459T>C
c.2505T>C (p.His835=)
c.2892T>C (p.His964=)
c.2256T>C (p.His752=)
c.-684T>C (n.-684T>C)
5g.177211711T>GCA362323613NSD1c.2439T>G (p.His813Gln)
n.612+7419T>G
n.2895T>G
c.3003T>G (p.His1001Gln)
n.2709T>G
c.3312T>G (p.His1104Gln)
n.3459T>G
c.2505T>G (p.His835Gln)
c.2892T>G (p.His964Gln)
c.2256T>G (p.His752Gln)
c.-684T>G (n.-684T>G)
5g.177211715dupCA319724NSD1c.2443dup (p.Ser815PhefsTer2)
n.612+7423dup
n.2899dup
c.3007dup (p.Ser1003PhefsTer2)
n.2713dup
c.3316dup (p.Ser1106PhefsTer2)
n.3463dup
c.2509dup (p.Ser837PhefsTer2)
c.2896dup (p.Ser966PhefsTer2)
c.2260dup (p.Ser754PhefsTer2)
c.-680dup (n.-680dup)
 ClinVar dbSNP
5g.177211715delCA2710741776NSD1c.2443del (p.Ser815LeufsTer?)
n.612+7423del
n.2899del
c.3007del (p.Ser1003LeufsTer?)
n.2713del
c.3316del (p.Ser1106LeufsTer?)
n.3463del
c.2509del (p.Ser837LeufsTer?)
c.2896del (p.Ser966LeufsTer?)
c.2260del (p.Ser754LeufsTer?)
c.-680del (n.-680del)
 dbSNP
5g.177211712T>ACA362323618NSD1c.2440T>A (p.Phe814Ile)
n.612+7420T>A
n.2896T>A
c.3004T>A (p.Phe1002Ile)
n.2710T>A
c.3313T>A (p.Phe1105Ile)
n.3460T>A
c.2506T>A (p.Phe836Ile)
c.2893T>A (p.Phe965Ile)
c.2257T>A (p.Phe753Ile)
c.-683T>A (n.-683T>A)
5g.177211712T>CCA362323621NSD1c.2440T>C (p.Phe814Leu)
n.612+7420T>C
n.2896T>C
c.3004T>C (p.Phe1002Leu)
n.2710T>C
c.3313T>C (p.Phe1105Leu)
n.3460T>C
c.2506T>C (p.Phe836Leu)
c.2893T>C (p.Phe965Leu)
c.2257T>C (p.Phe753Leu)
c.-683T>C (n.-683T>C)
5g.177211712T>GCA362323623NSD1c.2440T>G (p.Phe814Val)
n.612+7420T>G
n.2896T>G
c.3004T>G (p.Phe1002Val)
n.2710T>G
c.3313T>G (p.Phe1105Val)
n.3460T>G
c.2506T>G (p.Phe836Val)
c.2893T>G (p.Phe965Val)
c.2257T>G (p.Phe753Val)
c.-683T>G (n.-683T>G)
5g.177211713T>ACA362323628NSD1c.2441T>A (p.Phe814Tyr)
n.612+7421T>A
n.2897T>A
c.3005T>A (p.Phe1002Tyr)
n.2711T>A
c.3314T>A (p.Phe1105Tyr)
n.3461T>A
c.2507T>A (p.Phe836Tyr)
c.2894T>A (p.Phe965Tyr)
c.2258T>A (p.Phe753Tyr)
c.-682T>A (n.-682T>A)
 dbSNP
5g.177211713T>CCA362323632NSD1c.2441T>C (p.Phe814Ser)
n.612+7421T>C
n.2897T>C
c.3005T>C (p.Phe1002Ser)
n.2711T>C
c.3314T>C (p.Phe1105Ser)
n.3461T>C
c.2507T>C (p.Phe836Ser)
c.2894T>C (p.Phe965Ser)
c.2258T>C (p.Phe753Ser)
c.-682T>C (n.-682T>C)
5g.177211713T>GCA362323635NSD1c.2441T>G (p.Phe814Cys)
n.612+7421T>G
n.2897T>G
c.3005T>G (p.Phe1002Cys)
n.2711T>G
c.3314T>G (p.Phe1105Cys)
n.3461T>G
c.2507T>G (p.Phe836Cys)
c.2894T>G (p.Phe965Cys)
c.2258T>G (p.Phe753Cys)
c.-682T>G (n.-682T>G)
5g.177211714T>ACA362323639NSD1c.2442T>A (p.Phe814Leu)
n.612+7422T>A
n.2898T>A
c.3006T>A (p.Phe1002Leu)
n.2712T>A
c.3315T>A (p.Phe1105Leu)
n.3462T>A
c.2508T>A (p.Phe836Leu)
c.2895T>A (p.Phe965Leu)
c.2259T>A (p.Phe753Leu)
c.-681T>A (n.-681T>A)
5g.177211714T>CCA447961065NSD1c.2442T>C (p.Phe814=)
n.612+7422T>C
n.2898T>C
c.3006T>C (p.Phe1002=)
n.2712T>C
c.3315T>C (p.Phe1105=)
n.3462T>C
c.2508T>C (p.Phe836=)
c.2895T>C (p.Phe965=)
c.2259T>C (p.Phe753=)
c.-681T>C (n.-681T>C)
5g.177211714T>GCA362323641NSD1c.2442T>G (p.Phe814Leu)
n.612+7422T>G
n.2898T>G
c.3006T>G (p.Phe1002Leu)
n.2712T>G
c.3315T>G (p.Phe1105Leu)
n.3462T>G
c.2508T>G (p.Phe836Leu)
c.2895T>G (p.Phe965Leu)
c.2259T>G (p.Phe753Leu)
c.-681T>G (n.-681T>G)
5g.177211715T>ACA362323646NSD1c.2443T>A (p.Ser815Thr)
n.612+7423T>A
n.2899T>A
c.3007T>A (p.Ser1003Thr)
n.2713T>A
c.3316T>A (p.Ser1106Thr)
n.3463T>A
c.2509T>A (p.Ser837Thr)
c.2896T>A (p.Ser966Thr)
c.2260T>A (p.Ser754Thr)
c.-680T>A (n.-680T>A)
5g.177211715T>CCA362323651NSD1c.2443T>C (p.Ser815Pro)
n.612+7423T>C
n.2899T>C
c.3007T>C (p.Ser1003Pro)
n.2713T>C
c.3316T>C (p.Ser1106Pro)
n.3463T>C
c.2509T>C (p.Ser837Pro)
c.2896T>C (p.Ser966Pro)
c.2260T>C (p.Ser754Pro)
c.-680T>C (n.-680T>C)
5g.177211715T>GCA362323648NSD1c.2443T>G (p.Ser815Ala)
n.612+7423T>G
n.2899T>G
c.3007T>G (p.Ser1003Ala)
n.2713T>G
c.3316T>G (p.Ser1106Ala)
n.3463T>G
c.2509T>G (p.Ser837Ala)
c.2896T>G (p.Ser966Ala)
c.2260T>G (p.Ser754Ala)
c.-680T>G (n.-680T>G)
5g.177211716C>ACA362323654NSD1c.2444C>A (p.Ser815Tyr)
n.612+7424C>A
n.2900C>A
c.3008C>A (p.Ser1003Tyr)
n.2714C>A
c.3317C>A (p.Ser1106Tyr)
n.3464C>A
c.2510C>A (p.Ser837Tyr)
c.2897C>A (p.Ser966Tyr)
c.2261C>A (p.Ser754Tyr)
c.-679C>A (n.-679C>A)
5g.177211716C>GCA362323657NSD1c.2444C>G (p.Ser815Cys)
n.612+7424C>G
n.2900C>G
c.3008C>G (p.Ser1003Cys)
n.2714C>G
c.3317C>G (p.Ser1106Cys)
n.3464C>G
c.2510C>G (p.Ser837Cys)
c.2897C>G (p.Ser966Cys)
c.2261C>G (p.Ser754Cys)
c.-679C>G (n.-679C>G)
5g.177211716C>TCA362323659NSD1c.2444C>T (p.Ser815Phe)
n.612+7424C>T
n.2900C>T
c.3008C>T (p.Ser1003Phe)
n.2714C>T
c.3317C>T (p.Ser1106Phe)
n.3464C>T
c.2510C>T (p.Ser837Phe)
c.2897C>T (p.Ser966Phe)
c.2261C>T (p.Ser754Phe)
c.-679C>T (n.-679C>T)
5g.177211716_177211717insCAGCA2501042640NSD1c.2444_2445insCAG (p.Ser815_Asp816insSer)
n.612+7424_612+7425insCAG
n.2900_2901insCAG
c.3008_3009insCAG (p.Ser1003_Asp1004insSer)
n.2714_2715insCAG
c.3317_3318insCAG (p.Ser1106_Asp1107insSer)
n.3464_3465insCAG
c.2510_2511insCAG (p.Ser837_Asp838insSer)
c.2897_2898insCAG (p.Ser966_Asp967insSer)
c.2261_2262insCAG (p.Ser754_Asp755insSer)
c.-679_-678insCAG (n.-679_-678insCAG)
5g.177211717T>ACA447961068NSD1c.2445T>A (p.Ser815=)
n.612+7425T>A
n.2901T>A
c.3009T>A (p.Ser1003=)
n.2715T>A
c.3318T>A (p.Ser1106=)
n.3465T>A
c.2511T>A (p.Ser837=)
c.2898T>A (p.Ser966=)
c.2262T>A (p.Ser754=)
c.-678T>A (n.-678T>A)
5g.177211717T>CCA447961066NSD1c.2445T>C (p.Ser815=)
n.612+7425T>C
n.2901T>C
c.3009T>C (p.Ser1003=)
n.2715T>C
c.3318T>C (p.Ser1106=)
n.3465T>C
c.2511T>C (p.Ser837=)
c.2898T>C (p.Ser966=)
c.2262T>C (p.Ser754=)
c.-678T>C (n.-678T>C)
5g.177211717T>GCA447961067NSD1c.2445T>G (p.Ser815=)
n.612+7425T>G
n.2901T>G
c.3009T>G (p.Ser1003=)
n.2715T>G
c.3318T>G (p.Ser1106=)
n.3465T>G
c.2511T>G (p.Ser837=)
c.2898T>G (p.Ser966=)
c.2262T>G (p.Ser754=)
c.-678T>G (n.-678T>G)
5g.177211718G>ACA362323662NSD1c.2446G>A (p.Asp816Asn)
n.612+7426G>A
n.2902G>A
c.3010G>A (p.Asp1004Asn)
n.2716G>A
c.3319G>A (p.Asp1107Asn)
n.3466G>A
c.2512G>A (p.Asp838Asn)
c.2899G>A (p.Asp967Asn)
c.2263G>A (p.Asp755Asn)
c.-677G>A (n.-677G>A)
5g.177211718G>CCA362323665NSD1c.2446G>C (p.Asp816His)
n.612+7426G>C
n.2902G>C
c.3010G>C (p.Asp1004His)
n.2716G>C
c.3319G>C (p.Asp1107His)
n.3466G>C
c.2512G>C (p.Asp838His)
c.2899G>C (p.Asp967His)
c.2263G>C (p.Asp755His)
c.-677G>C (n.-677G>C)
5g.177211718G>TCA362323668NSD1c.2446G>T (p.Asp816Tyr)
n.612+7426G>T
n.2902G>T
c.3010G>T (p.Asp1004Tyr)
n.2716G>T
c.3319G>T (p.Asp1107Tyr)
n.3466G>T
c.2512G>T (p.Asp838Tyr)
c.2899G>T (p.Asp967Tyr)
c.2263G>T (p.Asp755Tyr)
c.-677G>T (n.-677G>T)
5g.177211719A>CCA362323671NSD1c.2447A>C (p.Asp816Ala)
n.612+7427A>C
n.2903A>C
c.3011A>C (p.Asp1004Ala)
n.2717A>C
c.3320A>C (p.Asp1107Ala)
n.3467A>C
c.2513A>C (p.Asp838Ala)
c.2900A>C (p.Asp967Ala)
c.2264A>C (p.Asp755Ala)
c.-676A>C (n.-676A>C)
5g.177211719A>GCA362323673NSD1c.2447A>G (p.Asp816Gly)
n.612+7427A>G
n.2903A>G
c.3011A>G (p.Asp1004Gly)
n.2717A>G
c.3320A>G (p.Asp1107Gly)
n.3467A>G
c.2513A>G (p.Asp838Gly)
c.2900A>G (p.Asp967Gly)
c.2264A>G (p.Asp755Gly)
c.-676A>G (n.-676A>G)
5g.177211719A>TCA362323675NSD1c.2447A>T (p.Asp816Val)
n.612+7427A>T
n.2903A>T
c.3011A>T (p.Asp1004Val)
n.2717A>T
c.3320A>T (p.Asp1107Val)
n.3467A>T
c.2513A>T (p.Asp838Val)
c.2900A>T (p.Asp967Val)
c.2264A>T (p.Asp755Val)
c.-676A>T (n.-676A>T)
5g.177211720T>ACA362323680NSD1c.2448T>A (p.Asp816Glu)
n.612+7428T>A
n.2904T>A
c.3012T>A (p.Asp1004Glu)
n.2718T>A
c.3321T>A (p.Asp1107Glu)
n.3468T>A
c.2514T>A (p.Asp838Glu)
c.2901T>A (p.Asp967Glu)
c.2265T>A (p.Asp755Glu)
c.-675T>A (n.-675T>A)
5g.177211720T>CCA447961069NSD1c.2448T>C (p.Asp816=)
n.612+7428T>C
n.2904T>C
c.3012T>C (p.Asp1004=)
n.2718T>C
c.3321T>C (p.Asp1107=)
n.3468T>C
c.2514T>C (p.Asp838=)
c.2901T>C (p.Asp967=)
c.2265T>C (p.Asp755=)
c.-675T>C (n.-675T>C)
 ClinVar
5g.177211720T>GCA362323682NSD1c.2448T>G (p.Asp816Glu)
n.612+7428T>G
n.2904T>G
c.3012T>G (p.Asp1004Glu)
n.2718T>G
c.3321T>G (p.Asp1107Glu)
n.3468T>G
c.2514T>G (p.Asp838Glu)
c.2901T>G (p.Asp967Glu)
c.2265T>G (p.Asp755Glu)
c.-675T>G (n.-675T>G)
5g.177211720_177211721insACA2550006446NSD1c.2448_2449insA (p.Val817SerfsTer5)
n.612+7428_612+7429insA
n.2904_2905insA
c.3012_3013insA (p.Val1005SerfsTer5)
n.2718_2719insA
c.3321_3322insA (p.Val1108SerfsTer5)
n.3468_3469insA
c.2514_2515insA (p.Val839SerfsTer5)
c.2901_2902insA (p.Val968SerfsTer5)
c.2265_2266insA (p.Val756SerfsTer5)
c.-675_-674insA (n.-675_-674insA)
5g.177211721G>ACA362323688NSD1c.2449G>A (p.Val817Met)
n.612+7429G>A
n.2905G>A
c.3013G>A (p.Val1005Met)
n.2719G>A
c.3322G>A (p.Val1108Met)
n.3469G>A
c.2515G>A (p.Val839Met)
c.2902G>A (p.Val968Met)
c.2266G>A (p.Val756Met)
c.-674G>A (n.-674G>A)
 dbSNP gnomAD v2 gnomAD v4
5g.177211721G>CCA362323690NSD1c.2449G>C (p.Val817Leu)
n.612+7429G>C
n.2905G>C
c.3013G>C (p.Val1005Leu)
n.2719G>C
c.3322G>C (p.Val1108Leu)
n.3469G>C
c.2515G>C (p.Val839Leu)
c.2902G>C (p.Val968Leu)
c.2266G>C (p.Val756Leu)
c.-674G>C (n.-674G>C)
5g.177211721G=CA1603478742NSD1c.2449G= (p.Val817=)
n.612+7429G=
n.2905G=
c.3013G= (p.Val1005=)
n.2719G=
c.3322G= (p.Val1108=)
n.3469G=
c.2515G= (p.Val839=)
c.2902G= (p.Val968=)
c.2266G= (p.Val756=)
c.-674G= (n.-674G=)
5g.177211721G>TCA362323685NSD1c.2449G>T (p.Val817Leu)
n.612+7429G>T
n.2905G>T
c.3013G>T (p.Val1005Leu)
n.2719G>T
c.3322G>T (p.Val1108Leu)
n.3469G>T
c.2515G>T (p.Val839Leu)
c.2902G>T (p.Val968Leu)
c.2266G>T (p.Val756Leu)
c.-674G>T (n.-674G>T)
5g.177211722T>ACA362323698NSD1c.2450T>A (p.Val817Glu)
n.612+7430T>A
n.2906T>A
c.3014T>A (p.Val1005Glu)
n.2720T>A
c.3323T>A (p.Val1108Glu)
n.3470T>A
c.2516T>A (p.Val839Glu)
c.2903T>A (p.Val968Glu)
c.2267T>A (p.Val756Glu)
c.-673T>A (n.-673T>A)
5g.177211722T>CCA362323693NSD1c.2450T>C (p.Val817Ala)
n.612+7430T>C
n.2906T>C
c.3014T>C (p.Val1005Ala)
n.2720T>C
c.3323T>C (p.Val1108Ala)
n.3470T>C
c.2516T>C (p.Val839Ala)
c.2903T>C (p.Val968Ala)
c.2267T>C (p.Val756Ala)
c.-673T>C (n.-673T>C)
 ClinVar dbSNP
5g.177211722T>GCA3577415NSD1c.2450T>G (p.Val817Gly)
n.612+7430T>G
n.2906T>G
c.3014T>G (p.Val1005Gly)
n.2720T>G
c.3323T>G (p.Val1108Gly)
n.3470T>G
c.2516T>G (p.Val839Gly)
c.2903T>G (p.Val968Gly)
c.2267T>G (p.Val756Gly)
c.-673T>G (n.-673T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211722T=CA1603478746NSD1c.2450T= (p.Val817=)
n.612+7430T=
n.2906T=
c.3014T= (p.Val1005=)
n.2720T=
c.3323T= (p.Val1108=)
n.3470T=
c.2516T= (p.Val839=)
c.2903T= (p.Val968=)
c.2267T= (p.Val756=)
c.-673T= (n.-673T=)
5g.177211723G>ACA447961070NSD1c.2451G>A (p.Val817=)
n.612+7431G>A
n.2907G>A
c.3015G>A (p.Val1005=)
n.2721G>A
c.3324G>A (p.Val1108=)
n.3471G>A
c.2517G>A (p.Val839=)
c.2904G>A (p.Val968=)
c.2268G>A (p.Val756=)
c.-672G>A (n.-672G>A)
 dbSNP
5g.177211723G>CCA447961071NSD1c.2451G>C (p.Val817=)
n.612+7431G>C
n.2907G>C
c.3015G>C (p.Val1005=)
n.2721G>C
c.3324G>C (p.Val1108=)
n.3471G>C
c.2517G>C (p.Val839=)
c.2904G>C (p.Val968=)
c.2268G>C (p.Val756=)
c.-672G>C (n.-672G>C)
5g.177211723G>TCA447961072NSD1c.2451G>T (p.Val817=)
n.612+7431G>T
n.2907G>T
c.3015G>T (p.Val1005=)
n.2721G>T
c.3324G>T (p.Val1108=)
n.3471G>T
c.2517G>T (p.Val839=)
c.2904G>T (p.Val968=)
c.2268G>T (p.Val756=)
c.-672G>T (n.-672G>T)
5g.177211723_177211725delCA2501532953NSD1c.2451_2453del (p.His818del)
n.612+7431_612+7433del
n.2907_2909del
c.3015_3017del (p.His1006del)
n.2721_2723del
c.3324_3326del (p.His1109del)
n.3471_3473del
c.2517_2519del (p.His840del)
c.2904_2906del (p.His969del)
c.2268_2270del (p.His757del)
c.-672_-670del (n.-672_-670del)
5g.177211724C>ACA362323702NSD1c.2452C>A (p.His818Asn)
n.612+7432C>A
n.2908C>A
c.3016C>A (p.His1006Asn)
n.2722C>A
c.3325C>A (p.His1109Asn)
n.3472C>A
c.2518C>A (p.His840Asn)
c.2905C>A (p.His969Asn)
c.2269C>A (p.His757Asn)
c.-671C>A (n.-671C>A)
5g.177211724C=CA1603478749NSD1c.2452C= (p.His818=)
n.612+7432C=
n.2908C=
c.3016C= (p.His1006=)
n.2722C=
c.3325C= (p.His1109=)
n.3472C=
c.2518C= (p.His840=)
c.2905C= (p.His969=)
c.2269C= (p.His757=)
c.-671C= (n.-671C=)
5g.177211724C>GCA362323705NSD1c.2452C>G (p.His818Asp)
n.612+7432C>G
n.2908C>G
c.3016C>G (p.His1006Asp)
n.2722C>G
c.3325C>G (p.His1109Asp)
n.3472C>G
c.2518C>G (p.His840Asp)
c.2905C>G (p.His969Asp)
c.2269C>G (p.His757Asp)
c.-671C>G (n.-671C>G)
5g.177211724C>TCA362323709NSD1c.2452C>T (p.His818Tyr)
n.612+7432C>T
n.2908C>T
c.3016C>T (p.His1006Tyr)
n.2722C>T
c.3325C>T (p.His1109Tyr)
n.3472C>T
c.2518C>T (p.His840Tyr)
c.2905C>T (p.His969Tyr)
c.2269C>T (p.His757Tyr)
c.-671C>T (n.-671C>T)
 dbSNP
5g.177211725A>CCA362323713NSD1c.2453A>C (p.His818Pro)
n.612+7433A>C
n.2909A>C
c.3017A>C (p.His1006Pro)
n.2723A>C
c.3326A>C (p.His1109Pro)
n.3473A>C
c.2519A>C (p.His840Pro)
c.2906A>C (p.His969Pro)
c.2270A>C (p.His757Pro)
c.-670A>C (n.-670A>C)
5g.177211725A>GCA362323716NSD1c.2453A>G (p.His818Arg)
n.612+7433A>G
n.2909A>G
c.3017A>G (p.His1006Arg)
n.2723A>G
c.3326A>G (p.His1109Arg)
n.3473A>G
c.2519A>G (p.His840Arg)
c.2906A>G (p.His969Arg)
c.2270A>G (p.His757Arg)
c.-670A>G (n.-670A>G)
5g.177211725A>TCA362323719NSD1c.2453A>T (p.His818Leu)
n.612+7433A>T
n.2909A>T
c.3017A>T (p.His1006Leu)
n.2723A>T
c.3326A>T (p.His1109Leu)
n.3473A>T
c.2519A>T (p.His840Leu)
c.2906A>T (p.His969Leu)
c.2270A>T (p.His757Leu)
c.-670A>T (n.-670A>T)
 dbSNP
5g.177211726T>ACA362323723NSD1c.2454T>A (p.His818Gln)
n.612+7434T>A
n.2910T>A
c.3018T>A (p.His1006Gln)
n.2724T>A
c.3327T>A (p.His1109Gln)
n.3474T>A
c.2520T>A (p.His840Gln)
c.2907T>A (p.His969Gln)
c.2271T>A (p.His757Gln)
c.-669T>A (n.-669T>A)
5g.177211726T>CCA447961073NSD1c.2454T>C (p.His818=)
n.612+7434T>C
n.2910T>C
c.3018T>C (p.His1006=)
n.2724T>C
c.3327T>C (p.His1109=)
n.3474T>C
c.2520T>C (p.His840=)
c.2907T>C (p.His969=)
c.2271T>C (p.His757=)
c.-669T>C (n.-669T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211726T>GCA362323726NSD1c.2454T>G (p.His818Gln)
n.612+7434T>G
n.2910T>G
c.3018T>G (p.His1006Gln)
n.2724T>G
c.3327T>G (p.His1109Gln)
n.3474T>G
c.2520T>G (p.His840Gln)
c.2907T>G (p.His969Gln)
c.2271T>G (p.His757Gln)
c.-669T>G (n.-669T>G)
5g.177211726T=CA1603478755NSD1c.2454T= (p.His818=)
n.612+7434T=
n.2910T=
c.3018T= (p.His1006=)
n.2724T=
c.3327T= (p.His1109=)
n.3474T=
c.2520T= (p.His840=)
c.2907T= (p.His969=)
c.2271T= (p.His757=)
c.-669T= (n.-669T=)
5g.177211727T>ACA362323732NSD1c.2455T>A (p.Phe819Ile)
n.612+7435T>A
n.2911T>A
c.3019T>A (p.Phe1007Ile)
n.2725T>A
c.3328T>A (p.Phe1110Ile)
n.3475T>A
c.2521T>A (p.Phe841Ile)
c.2908T>A (p.Phe970Ile)
c.2272T>A (p.Phe758Ile)
c.-668T>A (n.-668T>A)
5g.177211727T>CCA362323735NSD1c.2455T>C (p.Phe819Leu)
n.612+7435T>C
n.2911T>C
c.3019T>C (p.Phe1007Leu)
n.2725T>C
c.3328T>C (p.Phe1110Leu)
n.3475T>C
c.2521T>C (p.Phe841Leu)
c.2908T>C (p.Phe970Leu)
c.2272T>C (p.Phe758Leu)
c.-668T>C (n.-668T>C)
5g.177211727T>GCA362323738NSD1c.2455T>G (p.Phe819Val)
n.612+7435T>G
n.2911T>G
c.3019T>G (p.Phe1007Val)
n.2725T>G
c.3328T>G (p.Phe1110Val)
n.3475T>G
c.2521T>G (p.Phe841Val)
c.2908T>G (p.Phe970Val)
c.2272T>G (p.Phe758Val)
c.-668T>G (n.-668T>G)
5g.177211728T>ACA362323742NSD1c.2456T>A (p.Phe819Tyr)
n.612+7436T>A
n.2912T>A
c.3020T>A (p.Phe1007Tyr)
n.2726T>A
c.3329T>A (p.Phe1110Tyr)
n.3476T>A
c.2522T>A (p.Phe841Tyr)
c.2909T>A (p.Phe970Tyr)
c.2273T>A (p.Phe758Tyr)
c.-667T>A (n.-667T>A)
5g.177211728T>CCA362323750NSD1c.2456T>C (p.Phe819Ser)
n.612+7436T>C
n.2912T>C
c.3020T>C (p.Phe1007Ser)
n.2726T>C
c.3329T>C (p.Phe1110Ser)
n.3476T>C
c.2522T>C (p.Phe841Ser)
c.2909T>C (p.Phe970Ser)
c.2273T>C (p.Phe758Ser)
c.-667T>C (n.-667T>C)
5g.177211728T>GCA362323747NSD1c.2456T>G (p.Phe819Cys)
n.612+7436T>G
n.2912T>G
c.3020T>G (p.Phe1007Cys)
n.2726T>G
c.3329T>G (p.Phe1110Cys)
n.3476T>G
c.2522T>G (p.Phe841Cys)
c.2909T>G (p.Phe970Cys)
c.2273T>G (p.Phe758Cys)
c.-667T>G (n.-667T>G)
5g.177211729delCA2509276686NSD1c.2457del (p.Phe819LeufsTer?)
n.612+7437del
n.2913del
c.3021del (p.Phe1007LeufsTer?)
n.2727del
c.3330del (p.Phe1110LeufsTer?)
n.3477del
c.2523del (p.Phe841LeufsTer?)
c.2910del (p.Phe970LeufsTer?)
c.2274del (p.Phe758LeufsTer?)
c.-666del (n.-666del)
5g.177211729C>ACA362323755NSD1c.2457C>A (p.Phe819Leu)
n.612+7437C>A
n.2913C>A
c.3021C>A (p.Phe1007Leu)
n.2727C>A
c.3330C>A (p.Phe1110Leu)
n.3477C>A
c.2523C>A (p.Phe841Leu)
c.2910C>A (p.Phe970Leu)
c.2274C>A (p.Phe758Leu)
c.-666C>A (n.-666C>A)
 COSMIC COSMIC
5g.177211729C=CA1603478765NSD1c.2457C= (p.Phe819=)
n.612+7437C=
n.2913C=
c.3021C= (p.Phe1007=)
n.2727C=
c.3330C= (p.Phe1110=)
n.3477C=
c.2523C= (p.Phe841=)
c.2910C= (p.Phe970=)
c.2274C= (p.Phe758=)
c.-666C= (n.-666C=)
5g.177211729C>GCA362323758NSD1c.2457C>G (p.Phe819Leu)
n.612+7437C>G
n.2913C>G
c.3021C>G (p.Phe1007Leu)
n.2727C>G
c.3330C>G (p.Phe1110Leu)
n.3477C>G
c.2523C>G (p.Phe841Leu)
c.2910C>G (p.Phe970Leu)
c.2274C>G (p.Phe758Leu)
c.-666C>G (n.-666C>G)
 dbSNP
5g.177211729C>TCA3577416NSD1c.2457C>T (p.Phe819=)
n.612+7437C>T
n.2913C>T
c.3021C>T (p.Phe1007=)
n.2727C>T
c.3330C>T (p.Phe1110=)
n.3477C>T
c.2523C>T (p.Phe841=)
c.2910C>T (p.Phe970=)
c.2274C>T (p.Phe758=)
c.-666C>T (n.-666C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177211730G>ACA3577417NSD1c.2458G>A (p.Asp820Asn)
n.612+7438G>A
n.2914G>A
c.3022G>A (p.Asp1008Asn)
n.2728G>A
c.3331G>A (p.Asp1111Asn)
n.3478G>A
c.2524G>A (p.Asp842Asn)
c.2911G>A (p.Asp971Asn)
c.2275G>A (p.Asp759Asn)
c.-665G>A (n.-665G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211730G>CCA362323767NSD1c.2458G>C (p.Asp820His)
n.612+7438G>C
n.2914G>C
c.3022G>C (p.Asp1008His)
n.2728G>C
c.3331G>C (p.Asp1111His)
n.3478G>C
c.2524G>C (p.Asp842His)
c.2911G>C (p.Asp971His)
c.2275G>C (p.Asp759His)
c.-665G>C (n.-665G>C)
5g.177211730G=CA1603478782NSD1c.2458G= (p.Asp820=)
n.612+7438G=
n.2914G=
c.3022G= (p.Asp1008=)
n.2728G=
c.3331G= (p.Asp1111=)
n.3478G=
c.2524G= (p.Asp842=)
c.2911G= (p.Asp971=)
c.2275G= (p.Asp759=)
c.-665G= (n.-665G=)
5g.177211730G>TCA362323769NSD1c.2458G>T (p.Asp820Tyr)
n.612+7438G>T
n.2914G>T
c.3022G>T (p.Asp1008Tyr)
n.2728G>T
c.3331G>T (p.Asp1111Tyr)
n.3478G>T
c.2524G>T (p.Asp842Tyr)
c.2911G>T (p.Asp971Tyr)
c.2275G>T (p.Asp759Tyr)
c.-665G>T (n.-665G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177211731A=CA1603478784NSD1c.2459A= (p.Asp820=)
n.612+7439A=
n.2915A=
c.3023A= (p.Asp1008=)
n.2729A=
c.3332A= (p.Asp1111=)
n.3479A=
c.2525A= (p.Asp842=)
c.2912A= (p.Asp971=)
c.2276A= (p.Asp759=)
c.-664A= (n.-664A=)
5g.177211731A>CCA362323774NSD1c.2459A>C (p.Asp820Ala)
n.612+7439A>C
n.2915A>C
c.3023A>C (p.Asp1008Ala)
n.2729A>C
c.3332A>C (p.Asp1111Ala)
n.3479A>C
c.2525A>C (p.Asp842Ala)
c.2912A>C (p.Asp971Ala)
c.2276A>C (p.Asp759Ala)
c.-664A>C (n.-664A>C)
5g.177211731A>GCA362323776NSD1c.2459A>G (p.Asp820Gly)
n.612+7439A>G
n.2915A>G
c.3023A>G (p.Asp1008Gly)
n.2729A>G
c.3332A>G (p.Asp1111Gly)
n.3479A>G
c.2525A>G (p.Asp842Gly)
c.2912A>G (p.Asp971Gly)
c.2276A>G (p.Asp759Gly)
c.-664A>G (n.-664A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.177211731A>TCA362323778NSD1c.2459A>T (p.Asp820Val)
n.612+7439A>T
n.2915A>T
c.3023A>T (p.Asp1008Val)
n.2729A>T
c.3332A>T (p.Asp1111Val)
n.3479A>T
c.2525A>T (p.Asp842Val)
c.2912A>T (p.Asp971Val)
c.2276A>T (p.Asp759Val)
c.-664A>T (n.-664A>T)
5g.177211732T>ACA362323783NSD1c.2460T>A (p.Asp820Glu)
n.612+7440T>A
n.2916T>A
c.3024T>A (p.Asp1008Glu)
n.2730T>A
c.3333T>A (p.Asp1111Glu)
n.3480T>A
c.2526T>A (p.Asp842Glu)
c.2913T>A (p.Asp971Glu)
c.2277T>A (p.Asp759Glu)
c.-663T>A (n.-663T>A)
5g.177211732T>CCA447961074NSD1c.2460T>C (p.Asp820=)
n.612+7440T>C
n.2916T>C
c.3024T>C (p.Asp1008=)
n.2730T>C
c.3333T>C (p.Asp1111=)
n.3480T>C
c.2526T>C (p.Asp842=)
c.2913T>C (p.Asp971=)
c.2277T>C (p.Asp759=)
c.-663T>C (n.-663T>C)
 dbSNP gnomAD v3 gnomAD v4
5g.177211732T>GCA362323785NSD1c.2460T>G (p.Asp820Glu)
n.612+7440T>G
n.2916T>G
c.3024T>G (p.Asp1008Glu)
n.2730T>G
c.3333T>G (p.Asp1111Glu)
n.3480T>G
c.2526T>G (p.Asp842Glu)
c.2913T>G (p.Asp971Glu)
c.2277T>G (p.Asp759Glu)
c.-663T>G (n.-663T>G)
 dbSNP
5g.177211732T=CA1603478788NSD1c.2460T= (p.Asp820=)
n.612+7440T=
n.2916T=
c.3024T= (p.Asp1008=)
n.2730T=
c.3333T= (p.Asp1111=)
n.3480T=
c.2526T= (p.Asp842=)
c.2913T= (p.Asp971=)
c.2277T= (p.Asp759=)
c.-663T= (n.-663T=)
5g.177211733A=CA1603478789NSD1c.2461A= (p.Ser821=)
n.612+7441A=
n.2917A=
c.3025A= (p.Ser1009=)
n.2731A=
c.3334A= (p.Ser1112=)
n.3481A=
c.2527A= (p.Ser843=)
c.2914A= (p.Ser972=)
c.2278A= (p.Ser760=)
c.-662A= (n.-662A=)
5g.177211733A>CCA362323794NSD1c.2461A>C (p.Ser821Arg)
n.612+7441A>C
n.2917A>C
c.3025A>C (p.Ser1009Arg)
n.2731A>C
c.3334A>C (p.Ser1112Arg)
n.3481A>C
c.2527A>C (p.Ser843Arg)
c.2914A>C (p.Ser972Arg)
c.2278A>C (p.Ser760Arg)
c.-662A>C (n.-662A>C)
5g.177211733A>GCA3577418NSD1c.2461A>G (p.Ser821Gly)
n.612+7441A>G
n.2917A>G
c.3025A>G (p.Ser1009Gly)
n.2731A>G
c.3334A>G (p.Ser1112Gly)
n.3481A>G
c.2527A>G (p.Ser843Gly)
c.2914A>G (p.Ser972Gly)
c.2278A>G (p.Ser760Gly)
c.-662A>G (n.-662A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211733A>TCA362323792NSD1c.2461A>T (p.Ser821Cys)
n.612+7441A>T
n.2917A>T
c.3025A>T (p.Ser1009Cys)
n.2731A>T
c.3334A>T (p.Ser1112Cys)
n.3481A>T
c.2527A>T (p.Ser843Cys)
c.2914A>T (p.Ser972Cys)
c.2278A>T (p.Ser760Cys)
c.-662A>T (n.-662A>T)
5g.177211734G>ACA132831345NSD1c.2462G>A (p.Ser821Asn)
n.612+7442G>A
n.2918G>A
c.3026G>A (p.Ser1009Asn)
n.2732G>A
c.3335G>A (p.Ser1112Asn)
n.3482G>A
c.2528G>A (p.Ser843Asn)
c.2915G>A (p.Ser972Asn)
c.2279G>A (p.Ser760Asn)
c.-661G>A (n.-661G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177211734G>CCA362323802NSD1c.2462G>C (p.Ser821Thr)
n.612+7442G>C
n.2918G>C
c.3026G>C (p.Ser1009Thr)
n.2732G>C
c.3335G>C (p.Ser1112Thr)
n.3482G>C
c.2528G>C (p.Ser843Thr)
c.2915G>C (p.Ser972Thr)
c.2279G>C (p.Ser760Thr)
c.-661G>C (n.-661G>C)
5g.177211734G=CA1603478792NSD1c.2462G= (p.Ser821=)
n.612+7442G=
n.2918G=
c.3026G= (p.Ser1009=)
n.2732G=
c.3335G= (p.Ser1112=)
n.3482G=
c.2528G= (p.Ser843=)
c.2915G= (p.Ser972=)
c.2279G= (p.Ser760=)
c.-661G= (n.-661G=)
5g.177211734G>TCA362323805NSD1c.2462G>T (p.Ser821Ile)
n.612+7442G>T
n.2918G>T
c.3026G>T (p.Ser1009Ile)
n.2732G>T
c.3335G>T (p.Ser1112Ile)
n.3482G>T
c.2528G>T (p.Ser843Ile)
c.2915G>T (p.Ser972Ile)
c.2279G>T (p.Ser760Ile)
c.-661G>T (n.-661G>T)
5g.177211735C>ACA362323807NSD1c.2463C>A (p.Ser821Arg)
n.612+7443C>A
n.2919C>A
c.3027C>A (p.Ser1009Arg)
n.2733C>A
c.3336C>A (p.Ser1112Arg)
n.3483C>A
c.2529C>A (p.Ser843Arg)
c.2916C>A (p.Ser972Arg)
c.2280C>A (p.Ser760Arg)
c.-660C>A (n.-660C>A)
 dbSNP
5g.177211735C=CA1603478796NSD1c.2463C= (p.Ser821=)
n.612+7443C=
n.2919C=
c.3027C= (p.Ser1009=)
n.2733C=
c.3336C= (p.Ser1112=)
n.3483C=
c.2529C= (p.Ser843=)
c.2916C= (p.Ser972=)
c.2280C= (p.Ser760=)
c.-660C= (n.-660C=)
5g.177211735C>GCA132831347NSD1c.2463C>G (p.Ser821Arg)
n.612+7443C>G
n.2919C>G
c.3027C>G (p.Ser1009Arg)
n.2733C>G
c.3336C>G (p.Ser1112Arg)
n.3483C>G
c.2529C>G (p.Ser843Arg)
c.2916C>G (p.Ser972Arg)
c.2280C>G (p.Ser760Arg)
c.-660C>G (n.-660C>G)
 dbSNP
5g.177211735C>TCA447961075NSD1c.2463C>T (p.Ser821=)
n.612+7443C>T
n.2919C>T
c.3027C>T (p.Ser1009=)
n.2733C>T
c.3336C>T (p.Ser1112=)
n.3483C>T
c.2529C>T (p.Ser843=)
c.2916C>T (p.Ser972=)
c.2280C>T (p.Ser760=)
c.-660C>T (n.-660C>T)
5g.177211736A>CCA362323817NSD1c.2464A>C (p.Lys822Gln)
n.612+7444A>C
n.2920A>C
c.3028A>C (p.Lys1010Gln)
n.2734A>C
c.3337A>C (p.Lys1113Gln)
n.3484A>C
c.2530A>C (p.Lys844Gln)
c.2917A>C (p.Lys973Gln)
c.2281A>C (p.Lys761Gln)
c.-659A>C (n.-659A>C)
5g.177211736A>GCA362323819NSD1c.2464A>G (p.Lys822Glu)
n.612+7444A>G
n.2920A>G
c.3028A>G (p.Lys1010Glu)
n.2734A>G
c.3337A>G (p.Lys1113Glu)
n.3484A>G
c.2530A>G (p.Lys844Glu)
c.2917A>G (p.Lys973Glu)
c.2281A>G (p.Lys761Glu)
c.-659A>G (n.-659A>G)
5g.177211736A>TCA362323825NSD1c.2464A>T (p.Lys822Ter)
n.612+7444A>T
n.2920A>T
c.3028A>T (p.Lys1010Ter)
n.2734A>T
c.3337A>T (p.Lys1113Ter)
n.3484A>T
c.2530A>T (p.Lys844Ter)
c.2917A>T (p.Lys973Ter)
c.2281A>T (p.Lys761Ter)
c.-659A>T (n.-659A>T)
5g.177211737A>CCA362323827NSD1c.2465A>C (p.Lys822Thr)
n.612+7445A>C
n.2921A>C
c.3029A>C (p.Lys1010Thr)
n.2735A>C
c.3338A>C (p.Lys1113Thr)
n.3485A>C
c.2531A>C (p.Lys844Thr)
c.2918A>C (p.Lys973Thr)
c.2282A>C (p.Lys761Thr)
c.-658A>C (n.-658A>C)
5g.177211737A>GCA362323829NSD1c.2465A>G (p.Lys822Arg)
n.612+7445A>G
n.2921A>G
c.3029A>G (p.Lys1010Arg)
n.2735A>G
c.3338A>G (p.Lys1113Arg)
n.3485A>G
c.2531A>G (p.Lys844Arg)
c.2918A>G (p.Lys973Arg)
c.2282A>G (p.Lys761Arg)
c.-658A>G (n.-658A>G)
5g.177211737A>TCA362323831NSD1c.2465A>T (p.Lys822Met)
n.612+7445A>T
n.2921A>T
c.3029A>T (p.Lys1010Met)
n.2735A>T
c.3338A>T (p.Lys1113Met)
n.3485A>T
c.2531A>T (p.Lys844Met)
c.2918A>T (p.Lys973Met)
c.2282A>T (p.Lys761Met)
c.-658A>T (n.-658A>T)
5g.177211738G>ACA447961076NSD1c.2466G>A (p.Lys822=)
n.612+7446G>A
n.2922G>A
c.3030G>A (p.Lys1010=)
n.2736G>A
c.3339G>A (p.Lys1113=)
n.3486G>A
c.2532G>A (p.Lys844=)
c.2919G>A (p.Lys973=)
c.2283G>A (p.Lys761=)
c.-657G>A (n.-657G>A)
5g.177211738G>CCA362323836NSD1c.2466G>C (p.Lys822Asn)
n.612+7446G>C
n.2922G>C
c.3030G>C (p.Lys1010Asn)
n.2736G>C
c.3339G>C (p.Lys1113Asn)
n.3486G>C
c.2532G>C (p.Lys844Asn)
c.2919G>C (p.Lys973Asn)
c.2283G>C (p.Lys761Asn)
c.-657G>C (n.-657G>C)
5g.177211738G>TCA362323840NSD1c.2466G>T (p.Lys822Asn)
n.612+7446G>T
n.2922G>T
c.3030G>T (p.Lys1010Asn)
n.2736G>T
c.3339G>T (p.Lys1113Asn)
n.3486G>T
c.2532G>T (p.Lys844Asn)
c.2919G>T (p.Lys973Asn)
c.2283G>T (p.Lys761Asn)
c.-657G>T (n.-657G>T)
5g.177211739G>ACA362323848NSD1c.2467G>A (p.Val823Ile)
n.612+7447G>A
n.2923G>A
c.3031G>A (p.Val1011Ile)
n.2737G>A
c.3340G>A (p.Val1114Ile)
n.3487G>A
c.2533G>A (p.Val845Ile)
c.2920G>A (p.Val974Ile)
c.2284G>A (p.Val762Ile)
c.-656G>A (n.-656G>A)
5g.177211739G>CCA362323850NSD1c.2467G>C (p.Val823Leu)
n.612+7447G>C
n.2923G>C
c.3031G>C (p.Val1011Leu)
n.2737G>C
c.3340G>C (p.Val1114Leu)
n.3487G>C
c.2533G>C (p.Val845Leu)
c.2920G>C (p.Val974Leu)
c.2284G>C (p.Val762Leu)
c.-656G>C (n.-656G>C)
5g.177211739G>TCA362323845NSD1c.2467G>T (p.Val823Phe)
n.612+7447G>T
n.2923G>T
c.3031G>T (p.Val1011Phe)
n.2737G>T
c.3340G>T (p.Val1114Phe)
n.3487G>T
c.2533G>T (p.Val845Phe)
c.2920G>T (p.Val974Phe)
c.2284G>T (p.Val762Phe)
c.-656G>T (n.-656G>T)
 ClinVar
5g.177211740T>ACA362323854NSD1c.2468T>A (p.Val823Asp)
n.612+7448T>A
n.2924T>A
c.3032T>A (p.Val1011Asp)
n.2738T>A
c.3341T>A (p.Val1114Asp)
n.3488T>A
c.2534T>A (p.Val845Asp)
c.2921T>A (p.Val974Asp)
c.2285T>A (p.Val762Asp)
c.-655T>A (n.-655T>A)
5g.177211740T>CCA362323856NSD1c.2468T>C (p.Val823Ala)
n.612+7448T>C
n.2924T>C
c.3032T>C (p.Val1011Ala)
n.2738T>C
c.3341T>C (p.Val1114Ala)
n.3488T>C
c.2534T>C (p.Val845Ala)
c.2921T>C (p.Val974Ala)
c.2285T>C (p.Val762Ala)
c.-655T>C (n.-655T>C)
5g.177211740T>GCA362323859NSD1c.2468T>G (p.Val823Gly)
n.612+7448T>G
n.2924T>G
c.3032T>G (p.Val1011Gly)
n.2738T>G
c.3341T>G (p.Val1114Gly)
n.3488T>G
c.2534T>G (p.Val845Gly)
c.2921T>G (p.Val974Gly)
c.2285T>G (p.Val762Gly)
c.-655T>G (n.-655T>G)
5g.177211741T>ACA447961077NSD1c.2469T>A (p.Val823=)
n.612+7449T>A
n.2925T>A
c.3033T>A (p.Val1011=)
n.2739T>A
c.3342T>A (p.Val1114=)
n.3489T>A
c.2535T>A (p.Val845=)
c.2922T>A (p.Val974=)
c.2286T>A (p.Val762=)
c.-654T>A (n.-654T>A)
5g.177211741T>CCA447961078NSD1c.2469T>C (p.Val823=)
n.612+7449T>C
n.2925T>C
c.3033T>C (p.Val1011=)
n.2739T>C
c.3342T>C (p.Val1114=)
n.3489T>C
c.2535T>C (p.Val845=)
c.2922T>C (p.Val974=)
c.2286T>C (p.Val762=)
c.-654T>C (n.-654T>C)
5g.177211741T>GCA447961079NSD1c.2469T>G (p.Val823=)
n.612+7449T>G
n.2925T>G
c.3033T>G (p.Val1011=)
n.2739T>G
c.3342T>G (p.Val1114=)
n.3489T>G
c.2535T>G (p.Val845=)
c.2922T>G (p.Val974=)
c.2286T>G (p.Val762=)
c.-654T>G (n.-654T>G)
5g.177211742A=CA1603478800NSD1c.2470A= (p.Lys824=)
n.612+7450A=
n.2926A=
c.3034A= (p.Lys1012=)
n.2740A=
c.3343A= (p.Lys1115=)
n.3490A=
c.2536A= (p.Lys846=)
c.2923A= (p.Lys975=)
c.2287A= (p.Lys763=)
c.-653A= (n.-653A=)
5g.177211742A>CCA362323863NSD1c.2470A>C (p.Lys824Gln)
n.612+7450A>C
n.2926A>C
c.3034A>C (p.Lys1012Gln)
n.2740A>C
c.3343A>C (p.Lys1115Gln)
n.3490A>C
c.2536A>C (p.Lys846Gln)
c.2923A>C (p.Lys975Gln)
c.2287A>C (p.Lys763Gln)
c.-653A>C (n.-653A>C)
5g.177211742A>GCA362323865NSD1c.2470A>G (p.Lys824Glu)
n.612+7450A>G
n.2926A>G
c.3034A>G (p.Lys1012Glu)
n.2740A>G
c.3343A>G (p.Lys1115Glu)
n.3490A>G
c.2536A>G (p.Lys846Glu)
c.2923A>G (p.Lys975Glu)
c.2287A>G (p.Lys763Glu)
c.-653A>G (n.-653A>G)
 dbSNP gnomAD v2
5g.177211742A>TCA362323868NSD1c.2470A>T (p.Lys824Ter)
n.612+7450A>T
n.2926A>T
c.3034A>T (p.Lys1012Ter)
n.2740A>T
c.3343A>T (p.Lys1115Ter)
n.3490A>T
c.2536A>T (p.Lys846Ter)
c.2923A>T (p.Lys975Ter)
c.2287A>T (p.Lys763Ter)
c.-653A>T (n.-653A>T)
5g.177211743A=CA1603478808NSD1c.2471A= (p.Lys824=)
n.612+7451A=
n.2927A=
c.3035A= (p.Lys1012=)
n.2741A=
c.3344A= (p.Lys1115=)
n.3491A=
c.2537A= (p.Lys846=)
c.2924A= (p.Lys975=)
c.2288A= (p.Lys763=)
c.-652A= (n.-652A=)
5g.177211743A>CCA362323876NSD1c.2471A>C (p.Lys824Thr)
n.612+7451A>C
n.2927A>C
c.3035A>C (p.Lys1012Thr)
n.2741A>C
c.3344A>C (p.Lys1115Thr)
n.3491A>C
c.2537A>C (p.Lys846Thr)
c.2924A>C (p.Lys975Thr)
c.2288A>C (p.Lys763Thr)
c.-652A>C (n.-652A>C)
5g.177211743A>GCA362323871NSD1c.2471A>G (p.Lys824Arg)
n.612+7451A>G
n.2927A>G
c.3035A>G (p.Lys1012Arg)
n.2741A>G
c.3344A>G (p.Lys1115Arg)
n.3491A>G
c.2537A>G (p.Lys846Arg)
c.2924A>G (p.Lys975Arg)
c.2288A>G (p.Lys763Arg)
c.-652A>G (n.-652A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177211743A>TCA362323874NSD1c.2471A>T (p.Lys824Met)
n.612+7451A>T
n.2927A>T
c.3035A>T (p.Lys1012Met)
n.2741A>T
c.3344A>T (p.Lys1115Met)
n.3491A>T
c.2537A>T (p.Lys846Met)
c.2924A>T (p.Lys975Met)
c.2288A>T (p.Lys763Met)
c.-652A>T (n.-652A>T)
 dbSNP
5g.177211744G>ACA447961080NSD1c.2472G>A (p.Lys824=)
n.612+7452G>A
n.2928G>A
c.3036G>A (p.Lys1012=)
n.2742G>A
c.3345G>A (p.Lys1115=)
n.3492G>A
c.2538G>A (p.Lys846=)
c.2925G>A (p.Lys975=)
c.2289G>A (p.Lys763=)
c.-651G>A (n.-651G>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177211744G>CCA362323880NSD1c.2472G>C (p.Lys824Asn)
n.612+7452G>C
n.2928G>C
c.3036G>C (p.Lys1012Asn)
n.2742G>C
c.3345G>C (p.Lys1115Asn)
n.3492G>C
c.2538G>C (p.Lys846Asn)
c.2925G>C (p.Lys975Asn)
c.2289G>C (p.Lys763Asn)
c.-651G>C (n.-651G>C)
5g.177211744G=CA1603478814NSD1c.2472G= (p.Lys824=)
n.612+7452G=
n.2928G=
c.3036G= (p.Lys1012=)
n.2742G=
c.3345G= (p.Lys1115=)
n.3492G=
c.2538G= (p.Lys846=)
c.2925G= (p.Lys975=)
c.2289G= (p.Lys763=)
c.-651G= (n.-651G=)
5g.177211744G>TCA362323883NSD1c.2472G>T (p.Lys824Asn)
n.612+7452G>T
n.2928G>T
c.3036G>T (p.Lys1012Asn)
n.2742G>T
c.3345G>T (p.Lys1115Asn)
n.3492G>T
c.2538G>T (p.Lys846Asn)
c.2925G>T (p.Lys975Asn)
c.2289G>T (p.Lys763Asn)
c.-651G>T (n.-651G>T)
5g.177211745C>ACA362323889NSD1c.2473C>A (p.Gln825Lys)
n.612+7453C>A
n.2929C>A
c.3037C>A (p.Gln1013Lys)
n.2743C>A
c.3346C>A (p.Gln1116Lys)
n.3493C>A
c.2539C>A (p.Gln847Lys)
c.2926C>A (p.Gln976Lys)
c.2290C>A (p.Gln764Lys)
c.-650C>A (n.-650C>A)
 gnomAD v4
5g.177211745C>GCA362323892NSD1c.2473C>G (p.Gln825Glu)
n.612+7453C>G
n.2929C>G
c.3037C>G (p.Gln1013Glu)
n.2743C>G
c.3346C>G (p.Gln1116Glu)
n.3493C>G
c.2539C>G (p.Gln847Glu)
c.2926C>G (p.Gln976Glu)
c.2290C>G (p.Gln764Glu)
c.-650C>G (n.-650C>G)
 dbSNP
5g.177211745C>TCA362323893NSD1c.2473C>T (p.Gln825Ter)
n.612+7453C>T
n.2929C>T
c.3037C>T (p.Gln1013Ter)
n.2743C>T
c.3346C>T (p.Gln1116Ter)
n.3493C>T
c.2539C>T (p.Gln847Ter)
c.2926C>T (p.Gln976Ter)
c.2290C>T (p.Gln764Ter)
c.-650C>T (n.-650C>T)
5g.177211746A=CA1603478817NSD1c.2474A= (p.Gln825=)
n.612+7454A=
n.2930A=
c.3038A= (p.Gln1013=)
n.2744A=
c.3347A= (p.Gln1116=)
n.3494A=
c.2540A= (p.Gln847=)
c.2927A= (p.Gln976=)
c.2291A= (p.Gln764=)
c.-649A= (n.-649A=)
5g.177211746A>CCA362323896NSD1c.2474A>C (p.Gln825Pro)
n.612+7454A>C
n.2930A>C
c.3038A>C (p.Gln1013Pro)
n.2744A>C
c.3347A>C (p.Gln1116Pro)
n.3494A>C
c.2540A>C (p.Gln847Pro)
c.2927A>C (p.Gln976Pro)
c.2291A>C (p.Gln764Pro)
c.-649A>C (n.-649A>C)
5g.177211746A>GCA3577419NSD1c.2474A>G (p.Gln825Arg)
n.612+7454A>G
n.2930A>G
c.3038A>G (p.Gln1013Arg)
n.2744A>G
c.3347A>G (p.Gln1116Arg)
n.3494A>G
c.2540A>G (p.Gln847Arg)
c.2927A>G (p.Gln976Arg)
c.2291A>G (p.Gln764Arg)
c.-649A>G (n.-649A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211746A>TCA362323899NSD1c.2474A>T (p.Gln825Leu)
n.612+7454A>T
n.2930A>T
c.3038A>T (p.Gln1013Leu)
n.2744A>T
c.3347A>T (p.Gln1116Leu)
n.3494A>T
c.2540A>T (p.Gln847Leu)
c.2927A>T (p.Gln976Leu)
c.2291A>T (p.Gln764Leu)
c.-649A>T (n.-649A>T)
5g.177211747dupCA2739289455NSD1c.2475dup (p.Ser826IlefsTer2)
n.612+7455dup
n.2931dup
c.3039dup (p.Ser1014IlefsTer2)
n.2745dup
c.3348dup (p.Ser1117IlefsTer2)
n.3495dup
c.2541dup (p.Ser848IlefsTer2)
c.2928dup (p.Ser977IlefsTer2)
c.2292dup (p.Ser765IlefsTer2)
c.-648dup (n.-648dup)
5g.177211747A=CA1603478820NSD1c.2475A= (p.Gln825=)
n.612+7455A=
n.2931A=
c.3039A= (p.Gln1013=)
n.2745A=
c.3348A= (p.Gln1116=)
n.3495A=
c.2541A= (p.Gln847=)
c.2928A= (p.Gln976=)
c.2292A= (p.Gln764=)
c.-648A= (n.-648A=)
5g.177211747A>CCA362323906NSD1c.2475A>C (p.Gln825His)
n.612+7455A>C
n.2931A>C
c.3039A>C (p.Gln1013His)
n.2745A>C
c.3348A>C (p.Gln1116His)
n.3495A>C
c.2541A>C (p.Gln847His)
c.2928A>C (p.Gln976His)
c.2292A>C (p.Gln764His)
c.-648A>C (n.-648A>C)
 gnomAD v4
5g.177211747A>GCA447961081NSD1c.2475A>G (p.Gln825=)
n.612+7455A>G
n.2931A>G
c.3039A>G (p.Gln1013=)
n.2745A>G
c.3348A>G (p.Gln1116=)
n.3495A>G
c.2541A>G (p.Gln847=)
c.2928A>G (p.Gln976=)
c.2292A>G (p.Gln764=)
c.-648A>G (n.-648A>G)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
5g.177211747A>TCA362323909NSD1c.2475A>T (p.Gln825His)
n.612+7455A>T
n.2931A>T
c.3039A>T (p.Gln1013His)
n.2745A>T
c.3348A>T (p.Gln1116His)
n.3495A>T
c.2541A>T (p.Gln847His)
c.2928A>T (p.Gln976His)
c.2292A>T (p.Gln764His)
c.-648A>T (n.-648A>T)
 gnomAD v4
5g.177211748T>ACA362323915NSD1c.2476T>A (p.Ser826Thr)
n.612+7456T>A
n.2932T>A
c.3040T>A (p.Ser1014Thr)
n.2746T>A
c.3349T>A (p.Ser1117Thr)
n.3496T>A
c.2542T>A (p.Ser848Thr)
c.2929T>A (p.Ser977Thr)
c.2293T>A (p.Ser765Thr)
c.-647T>A (n.-647T>A)
5g.177211748T>CCA362323922NSD1c.2476T>C (p.Ser826Pro)
n.612+7456T>C
n.2932T>C
c.3040T>C (p.Ser1014Pro)
n.2746T>C
c.3349T>C (p.Ser1117Pro)
n.3496T>C
c.2542T>C (p.Ser848Pro)
c.2929T>C (p.Ser977Pro)
c.2293T>C (p.Ser765Pro)
c.-647T>C (n.-647T>C)
5g.177211748T>GCA3577420NSD1c.2476T>G (p.Ser826Ala)
n.612+7456T>G
n.2932T>G
c.3040T>G (p.Ser1014Ala)
n.2746T>G
c.3349T>G (p.Ser1117Ala)
n.3496T>G
c.2542T>G (p.Ser848Ala)
c.2929T>G (p.Ser977Ala)
c.2293T>G (p.Ser765Ala)
c.-647T>G (n.-647T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211748T=CA1603478823NSD1c.2476T= (p.Ser826=)
n.612+7456T=
n.2932T=
c.3040T= (p.Ser1014=)
n.2746T=
c.3349T= (p.Ser1117=)
n.3496T=
c.2542T= (p.Ser848=)
c.2929T= (p.Ser977=)
c.2293T= (p.Ser765=)
c.-647T= (n.-647T=)
5g.177211749C>ACA362323927NSD1c.2477C>A (p.Ser826Tyr)
n.612+7457C>A
n.2933C>A
c.3041C>A (p.Ser1014Tyr)
n.2747C>A
c.3350C>A (p.Ser1117Tyr)
n.3497C>A
c.2543C>A (p.Ser848Tyr)
c.2930C>A (p.Ser977Tyr)
c.2294C>A (p.Ser765Tyr)
c.-646C>A (n.-646C>A)
 dbSNP
5g.177211749C=CA1603478827NSD1c.2477C= (p.Ser826=)
n.612+7457C=
n.2933C=
c.3041C= (p.Ser1014=)
n.2747C=
c.3350C= (p.Ser1117=)
n.3497C=
c.2543C= (p.Ser848=)
c.2930C= (p.Ser977=)
c.2294C= (p.Ser765=)
c.-646C= (n.-646C=)
5g.177211749C>GCA362323933NSD1c.2477C>G (p.Ser826Cys)
n.612+7457C>G
n.2933C>G
c.3041C>G (p.Ser1014Cys)
n.2747C>G
c.3350C>G (p.Ser1117Cys)
n.3497C>G
c.2543C>G (p.Ser848Cys)
c.2930C>G (p.Ser977Cys)
c.2294C>G (p.Ser765Cys)
c.-646C>G (n.-646C>G)
 dbSNP gnomAD v2
5g.177211749C>TCA362323929NSD1c.2477C>T (p.Ser826Phe)
n.612+7457C>T
n.2933C>T
c.3041C>T (p.Ser1014Phe)
n.2747C>T
c.3350C>T (p.Ser1117Phe)
n.3497C>T
c.2543C>T (p.Ser848Phe)
c.2930C>T (p.Ser977Phe)
c.2294C>T (p.Ser765Phe)
c.-646C>T (n.-646C>T)

Number of alleles fetched