Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177211774del | CA2711102353 | NSD1 | c.2502del (p.Gly835AspfsTer15) n.612+7482del n.2958del c.3066del (p.Gly1023AspfsTer15) n.2772del c.3375del (p.Gly1126AspfsTer15) n.3522del c.2568del (p.Gly857AspfsTer15) c.2955del (p.Gly986AspfsTer15) c.2319del (p.Gly774AspfsTer15) c.-621del (n.-621del) | dbSNP |
5 | g.177211771A>C | CA362324105 | NSD1 | c.2499A>C (p.Glu833Asp) n.612+7479A>C n.2955A>C c.3063A>C (p.Glu1021Asp) n.2769A>C c.3372A>C (p.Glu1124Asp) n.3519A>C c.2565A>C (p.Glu855Asp) c.2952A>C (p.Glu984Asp) c.2316A>C (p.Glu772Asp) c.-624A>C (n.-624A>C) | |
5 | g.177211771A>G | CA447961097 | NSD1 | c.2499A>G (p.Glu833=) n.612+7479A>G n.2955A>G c.3063A>G (p.Glu1021=) n.2769A>G c.3372A>G (p.Glu1124=) n.3519A>G c.2565A>G (p.Glu855=) c.2952A>G (p.Glu984=) c.2316A>G (p.Glu772=) c.-624A>G (n.-624A>G) | |
5 | g.177211771A>T | CA362324107 | NSD1 | c.2499A>T (p.Glu833Asp) n.612+7479A>T n.2955A>T c.3063A>T (p.Glu1021Asp) n.2769A>T c.3372A>T (p.Glu1124Asp) n.3519A>T c.2565A>T (p.Glu855Asp) c.2952A>T (p.Glu984Asp) c.2316A>T (p.Glu772Asp) c.-624A>T (n.-624A>T) | |
5 | g.177211777_177211800del | CA2676687586 | NSD1 | c.2505_2528del (p.Leu836_Gly843del) n.612+7485_612+7508del n.2961_2984del c.3069_3092del (p.Leu1024_Gly1031del) n.2775_2798del c.3378_3401del (p.Leu1127_Gly1134del) n.3525_3548del c.2571_2594del (p.Leu858_Gly865del) c.2958_2981del (p.Leu987_Gly994del) c.2322_2345del (p.Leu775_Gly782del) c.-618_-595del (n.-618_-595del) | gnomAD v4 |
5 | g.177211772A= | CA1603478859 | NSD1 | c.2500A= (p.Lys834=) n.612+7480A= n.2956A= c.3064A= (p.Lys1022=) n.2770A= c.3373A= (p.Lys1125=) n.3520A= c.2566A= (p.Lys856=) c.2953A= (p.Lys985=) c.2317A= (p.Lys773=) c.-623A= (n.-623A=) | |
5 | g.177211772A>C | CA362324111 | NSD1 | c.2500A>C (p.Lys834Gln) n.612+7480A>C n.2956A>C c.3064A>C (p.Lys1022Gln) n.2770A>C c.3373A>C (p.Lys1125Gln) n.3520A>C c.2566A>C (p.Lys856Gln) c.2953A>C (p.Lys985Gln) c.2317A>C (p.Lys773Gln) c.-623A>C (n.-623A>C) | |
5 | g.177211772A>G | CA362324114 | NSD1 | c.2500A>G (p.Lys834Glu) n.612+7480A>G n.2956A>G c.3064A>G (p.Lys1022Glu) n.2770A>G c.3373A>G (p.Lys1125Glu) n.3520A>G c.2566A>G (p.Lys856Glu) c.2953A>G (p.Lys985Glu) c.2317A>G (p.Lys773Glu) c.-623A>G (n.-623A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211772A>T | CA362324116 | NSD1 | c.2500A>T (p.Lys834Ter) n.612+7480A>T n.2956A>T c.3064A>T (p.Lys1022Ter) n.2770A>T c.3373A>T (p.Lys1125Ter) n.3520A>T c.2566A>T (p.Lys856Ter) c.2953A>T (p.Lys985Ter) c.2317A>T (p.Lys773Ter) c.-623A>T (n.-623A>T) | |
5 | g.177211773A= | CA1603478862 | NSD1 | c.2501A= (p.Lys834=) n.612+7481A= n.2957A= c.3065A= (p.Lys1022=) n.2771A= c.3374A= (p.Lys1125=) n.3521A= c.2567A= (p.Lys856=) c.2954A= (p.Lys985=) c.2318A= (p.Lys773=) c.-622A= (n.-622A=) | |
5 | g.177211773A>C | CA362324120 | NSD1 | c.2501A>C (p.Lys834Thr) n.612+7481A>C n.2957A>C c.3065A>C (p.Lys1022Thr) n.2771A>C c.3374A>C (p.Lys1125Thr) n.3521A>C c.2567A>C (p.Lys856Thr) c.2954A>C (p.Lys985Thr) c.2318A>C (p.Lys773Thr) c.-622A>C (n.-622A>C) | |
5 | g.177211773A>G | CA3577424 | NSD1 | c.2501A>G (p.Lys834Arg) n.612+7481A>G n.2957A>G c.3065A>G (p.Lys1022Arg) n.2771A>G c.3374A>G (p.Lys1125Arg) n.3521A>G c.2567A>G (p.Lys856Arg) c.2954A>G (p.Lys985Arg) c.2318A>G (p.Lys773Arg) c.-622A>G (n.-622A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211773A>T | CA362324125 | NSD1 | c.2501A>T (p.Lys834Ile) n.612+7481A>T n.2957A>T c.3065A>T (p.Lys1022Ile) n.2771A>T c.3374A>T (p.Lys1125Ile) n.3521A>T c.2567A>T (p.Lys856Ile) c.2954A>T (p.Lys985Ile) c.2318A>T (p.Lys773Ile) c.-622A>T (n.-622A>T) | |
5 | g.177211774A>C | CA362324132 | NSD1 | c.2502A>C (p.Lys834Asn) n.612+7482A>C n.2958A>C c.3066A>C (p.Lys1022Asn) n.2772A>C c.3375A>C (p.Lys1125Asn) n.3522A>C c.2568A>C (p.Lys856Asn) c.2955A>C (p.Lys985Asn) c.2319A>C (p.Lys773Asn) c.-621A>C (n.-621A>C) | |
5 | g.177211774A>G | CA447961098 | NSD1 | c.2502A>G (p.Lys834=) n.612+7482A>G n.2958A>G c.3066A>G (p.Lys1022=) n.2772A>G c.3375A>G (p.Lys1125=) n.3522A>G c.2568A>G (p.Lys856=) c.2955A>G (p.Lys985=) c.2319A>G (p.Lys773=) c.-621A>G (n.-621A>G) | dbSNP |
5 | g.177211774A>T | CA362324129 | NSD1 | c.2502A>T (p.Lys834Asn) n.612+7482A>T n.2958A>T c.3066A>T (p.Lys1022Asn) n.2772A>T c.3375A>T (p.Lys1125Asn) n.3522A>T c.2568A>T (p.Lys856Asn) c.2955A>T (p.Lys985Asn) c.2319A>T (p.Lys773Asn) c.-621A>T (n.-621A>T) | |
5 | g.177211775G>A | CA3577425 | NSD1 | c.2503G>A (p.Gly835Arg) n.612+7483G>A n.2959G>A c.3067G>A (p.Gly1023Arg) n.2773G>A c.3376G>A (p.Gly1126Arg) n.3523G>A c.2569G>A (p.Gly857Arg) c.2956G>A (p.Gly986Arg) c.2320G>A (p.Gly774Arg) c.-620G>A (n.-620G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211775G>C | CA362324138 | NSD1 | c.2503G>C (p.Gly835Arg) n.612+7483G>C n.2959G>C c.3067G>C (p.Gly1023Arg) n.2773G>C c.3376G>C (p.Gly1126Arg) n.3523G>C c.2569G>C (p.Gly857Arg) c.2956G>C (p.Gly986Arg) c.2320G>C (p.Gly774Arg) c.-620G>C (n.-620G>C) | |
5 | g.177211775G= | CA1603478863 | NSD1 | c.2503G= (p.Gly835=) n.612+7483G= n.2959G= c.3067G= (p.Gly1023=) n.2773G= c.3376G= (p.Gly1126=) n.3523G= c.2569G= (p.Gly857=) c.2956G= (p.Gly986=) c.2320G= (p.Gly774=) c.-620G= (n.-620G=) | |
5 | g.177211775G>T | CA362324141 | NSD1 | c.2503G>T (p.Gly835Ter) n.612+7483G>T n.2959G>T c.3067G>T (p.Gly1023Ter) n.2773G>T c.3376G>T (p.Gly1126Ter) n.3523G>T c.2569G>T (p.Gly857Ter) c.2956G>T (p.Gly986Ter) c.2320G>T (p.Gly774Ter) c.-620G>T (n.-620G>T) | |
5 | g.177211776G>A | CA362324147 | NSD1 | c.2504G>A (p.Gly835Glu) n.612+7484G>A n.2960G>A c.3068G>A (p.Gly1023Glu) n.2774G>A c.3377G>A (p.Gly1126Glu) n.3524G>A c.2570G>A (p.Gly857Glu) c.2957G>A (p.Gly986Glu) c.2321G>A (p.Gly774Glu) c.-619G>A (n.-619G>A) | gnomAD v4 |
5 | g.177211776G>C | CA362324150 | NSD1 | c.2504G>C (p.Gly835Ala) n.612+7484G>C n.2960G>C c.3068G>C (p.Gly1023Ala) n.2774G>C c.3377G>C (p.Gly1126Ala) n.3524G>C c.2570G>C (p.Gly857Ala) c.2957G>C (p.Gly986Ala) c.2321G>C (p.Gly774Ala) c.-619G>C (n.-619G>C) | dbSNP |
5 | g.177211776G>T | CA362324154 | NSD1 | c.2504G>T (p.Gly835Val) n.612+7484G>T n.2960G>T c.3068G>T (p.Gly1023Val) n.2774G>T c.3377G>T (p.Gly1126Val) n.3524G>T c.2570G>T (p.Gly857Val) c.2957G>T (p.Gly986Val) c.2321G>T (p.Gly774Val) c.-619G>T (n.-619G>T) | dbSNP |
5 | g.177211777A= | CA1603478870 | NSD1 | c.2505A= (p.Gly835=) n.612+7485A= n.2961A= c.3069A= (p.Gly1023=) n.2775A= c.3378A= (p.Gly1126=) n.3525A= c.2571A= (p.Gly857=) c.2958A= (p.Gly986=) c.2322A= (p.Gly774=) c.-618A= (n.-618A=) | |
5 | g.177211777A>C | CA447961099 | NSD1 | c.2505A>C (p.Gly835=) n.612+7485A>C n.2961A>C c.3069A>C (p.Gly1023=) n.2775A>C c.3378A>C (p.Gly1126=) n.3525A>C c.2571A>C (p.Gly857=) c.2958A>C (p.Gly986=) c.2322A>C (p.Gly774=) c.-618A>C (n.-618A>C) | |
5 | g.177211777A>G | CA132831364 | NSD1 | c.2505A>G (p.Gly835=) n.612+7485A>G n.2961A>G c.3069A>G (p.Gly1023=) n.2775A>G c.3378A>G (p.Gly1126=) n.3525A>G c.2571A>G (p.Gly857=) c.2958A>G (p.Gly986=) c.2322A>G (p.Gly774=) c.-618A>G (n.-618A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211777A>T | CA447961100 | NSD1 | c.2505A>T (p.Gly835=) n.612+7485A>T n.2961A>T c.3069A>T (p.Gly1023=) n.2775A>T c.3378A>T (p.Gly1126=) n.3525A>T c.2571A>T (p.Gly857=) c.2958A>T (p.Gly986=) c.2322A>T (p.Gly774=) c.-618A>T (n.-618A>T) | dbSNP |
5 | g.177211777_177211779delinsACT | CA1603478867 | NSD1 | c.2505_2507delinsACT (p.Gly835=) n.612+7485_612+7487delinsACT n.2961_2963delinsACT c.3069_3071delinsACT (p.Gly1023=) n.2775_2777delinsACT c.3378_3380delinsACT (p.Gly1126=) n.3525_3527delinsACT c.2571_2573delinsACT (p.Gly857=) c.2958_2960delinsACT (p.Gly986=) c.2322_2324delinsACT (p.Gly774=) c.-618_-616delinsACT (n.-618_-616delinsACT) | |
5 | g.177211778C>A | CA362324166 | NSD1 | c.2506C>A (p.Leu836Ile) n.612+7486C>A n.2962C>A c.3070C>A (p.Leu1024Ile) n.2776C>A c.3379C>A (p.Leu1127Ile) n.3526C>A c.2572C>A (p.Leu858Ile) c.2959C>A (p.Leu987Ile) c.2323C>A (p.Leu775Ile) c.-617C>A (n.-617C>A) | |
5 | g.177211778C>G | CA362324164 | NSD1 | c.2506C>G (p.Leu836Val) n.612+7486C>G n.2962C>G c.3070C>G (p.Leu1024Val) n.2776C>G c.3379C>G (p.Leu1127Val) n.3526C>G c.2572C>G (p.Leu858Val) c.2959C>G (p.Leu987Val) c.2323C>G (p.Leu775Val) c.-617C>G (n.-617C>G) | dbSNP |
5 | g.177211778C>T | CA362324162 | NSD1 | c.2506C>T (p.Leu836Phe) n.612+7486C>T n.2962C>T c.3070C>T (p.Leu1024Phe) n.2776C>T c.3379C>T (p.Leu1127Phe) n.3526C>T c.2572C>T (p.Leu858Phe) c.2959C>T (p.Leu987Phe) c.2323C>T (p.Leu775Phe) c.-617C>T (n.-617C>T) | gnomAD v4 |
5 | g.177211782_177211783del | CA294851 | NSD1 | c.2510_2511del (p.Ser837PhefsTer2) n.612+7490_612+7491del n.2966_2967del c.3074_3075del (p.Ser1025PhefsTer2) n.2780_2781del c.3383_3384del (p.Ser1128PhefsTer2) n.3530_3531del c.2576_2577del (p.Ser859PhefsTer2) c.2963_2964del (p.Ser988PhefsTer2) c.2327_2328del (p.Ser776PhefsTer2) c.-613_-612del (n.-613_-612del) | ClinVar dbSNP |
5 | g.177211779T>A | CA362324172 | NSD1 | c.2507T>A (p.Leu836His) n.612+7487T>A n.2963T>A c.3071T>A (p.Leu1024His) n.2777T>A c.3380T>A (p.Leu1127His) n.3527T>A c.2573T>A (p.Leu858His) c.2960T>A (p.Leu987His) c.2324T>A (p.Leu775His) c.-616T>A (n.-616T>A) | |
5 | g.177211779T>C | CA362324176 | NSD1 | c.2507T>C (p.Leu836Pro) n.612+7487T>C n.2963T>C c.3071T>C (p.Leu1024Pro) n.2777T>C c.3380T>C (p.Leu1127Pro) n.3527T>C c.2573T>C (p.Leu858Pro) c.2960T>C (p.Leu987Pro) c.2324T>C (p.Leu775Pro) c.-616T>C (n.-616T>C) | |
5 | g.177211779T>G | CA362324179 | NSD1 | c.2507T>G (p.Leu836Arg) n.612+7487T>G n.2963T>G c.3071T>G (p.Leu1024Arg) n.2777T>G c.3380T>G (p.Leu1127Arg) n.3527T>G c.2573T>G (p.Leu858Arg) c.2960T>G (p.Leu987Arg) c.2324T>G (p.Leu775Arg) c.-616T>G (n.-616T>G) | COSMIC COSMIC |
5 | g.177211780C>A | CA447961103 | NSD1 | c.2508C>A (p.Leu836=) n.612+7488C>A n.2964C>A c.3072C>A (p.Leu1024=) n.2778C>A c.3381C>A (p.Leu1127=) n.3528C>A c.2574C>A (p.Leu858=) c.2961C>A (p.Leu987=) c.2325C>A (p.Leu775=) c.-615C>A (n.-615C>A) | |
5 | g.177211780C= | CA1603478881 | NSD1 | c.2508C= (p.Leu836=) n.612+7488C= n.2964C= c.3072C= (p.Leu1024=) n.2778C= c.3381C= (p.Leu1127=) n.3528C= c.2574C= (p.Leu858=) c.2961C= (p.Leu987=) c.2325C= (p.Leu775=) c.-615C= (n.-615C=) | |
5 | g.177211780C>G | CA447961102 | NSD1 | c.2508C>G (p.Leu836=) n.612+7488C>G n.2964C>G c.3072C>G (p.Leu1024=) n.2778C>G c.3381C>G (p.Leu1127=) n.3528C>G c.2574C>G (p.Leu858=) c.2961C>G (p.Leu987=) c.2325C>G (p.Leu775=) c.-615C>G (n.-615C>G) | |
5 | g.177211780C>T | CA447961101 | NSD1 | c.2508C>T (p.Leu836=) n.612+7488C>T n.2964C>T c.3072C>T (p.Leu1024=) n.2778C>T c.3381C>T (p.Leu1127=) n.3528C>T c.2574C>T (p.Leu858=) c.2961C>T (p.Leu987=) c.2325C>T (p.Leu775=) c.-615C>T (n.-615C>T) | |
5 | g.177211781T>A | CA362324183 | NSD1 | c.2509T>A (p.Ser837Thr) n.612+7489T>A n.2965T>A c.3073T>A (p.Ser1025Thr) n.2779T>A c.3382T>A (p.Ser1128Thr) n.3529T>A c.2575T>A (p.Ser859Thr) c.2962T>A (p.Ser988Thr) c.2326T>A (p.Ser776Thr) c.-614T>A (n.-614T>A) | |
5 | g.177211781T>C | CA362324186 | NSD1 | c.2509T>C (p.Ser837Pro) n.612+7489T>C n.2965T>C c.3073T>C (p.Ser1025Pro) n.2779T>C c.3382T>C (p.Ser1128Pro) n.3529T>C c.2575T>C (p.Ser859Pro) c.2962T>C (p.Ser988Pro) c.2326T>C (p.Ser776Pro) c.-614T>C (n.-614T>C) | |
5 | g.177211781T>G | CA362324189 | NSD1 | c.2509T>G (p.Ser837Ala) n.612+7489T>G n.2965T>G c.3073T>G (p.Ser1025Ala) n.2779T>G c.3382T>G (p.Ser1128Ala) n.3529T>G c.2575T>G (p.Ser859Ala) c.2962T>G (p.Ser988Ala) c.2326T>G (p.Ser776Ala) c.-614T>G (n.-614T>G) | gnomAD v4 |
5 | g.177211781dup | CA10605938 | NSD1 | c.2509dup (p.Ser837PhefsTer3) n.612+7489dup n.2965dup c.3073dup (p.Ser1025PhefsTer3) n.2779dup c.3382dup (p.Ser1128PhefsTer3) n.3529dup c.2575dup (p.Ser859PhefsTer3) c.2962dup (p.Ser988PhefsTer3) c.2326dup (p.Ser776PhefsTer3) c.-614dup (n.-614dup) | ClinVar dbSNP |
5 | g.177211782del | CA2580074138 | NSD1 | c.2510del (p.Ser837PhefsTer13) n.612+7490del n.2966del c.3074del (p.Ser1025PhefsTer13) n.2780del c.3383del (p.Ser1128PhefsTer13) n.3530del c.2576del (p.Ser859PhefsTer13) c.2963del (p.Ser988PhefsTer13) c.2327del (p.Ser776PhefsTer13) c.-613del (n.-613del) | ClinVar |
5 | g.177211782C>A | CA3577426 | NSD1 | c.2510C>A (p.Ser837Tyr) n.612+7490C>A n.2966C>A c.3074C>A (p.Ser1025Tyr) n.2780C>A c.3383C>A (p.Ser1128Tyr) n.3530C>A c.2576C>A (p.Ser859Tyr) c.2963C>A (p.Ser988Tyr) c.2327C>A (p.Ser776Tyr) c.-613C>A (n.-613C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211782C= | CA1603478887 | NSD1 | c.2510C= (p.Ser837=) n.612+7490C= n.2966C= c.3074C= (p.Ser1025=) n.2780C= c.3383C= (p.Ser1128=) n.3530C= c.2576C= (p.Ser859=) c.2963C= (p.Ser988=) c.2327C= (p.Ser776=) c.-613C= (n.-613C=) | |
5 | g.177211782C>G | CA362324199 | NSD1 | c.2510C>G (p.Ser837Cys) n.612+7490C>G n.2966C>G c.3074C>G (p.Ser1025Cys) n.2780C>G c.3383C>G (p.Ser1128Cys) n.3530C>G c.2576C>G (p.Ser859Cys) c.2963C>G (p.Ser988Cys) c.2327C>G (p.Ser776Cys) c.-613C>G (n.-613C>G) | |
5 | g.177211782C>T | CA246221 | NSD1 | c.2510C>T (p.Ser837Phe) n.612+7490C>T n.2966C>T c.3074C>T (p.Ser1025Phe) n.2780C>T c.3383C>T (p.Ser1128Phe) n.3530C>T c.2576C>T (p.Ser859Phe) c.2963C>T (p.Ser988Phe) c.2327C>T (p.Ser776Phe) c.-613C>T (n.-613C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211782_177211784delinsCTT | CA1603478889 | NSD1 | c.2510_2512delinsCTT (p.Ser837=) n.612+7490_612+7492delinsCTT n.2966_2968delinsCTT c.3074_3076delinsCTT (p.Ser1025=) n.2780_2782delinsCTT c.3383_3385delinsCTT (p.Ser1128=) n.3530_3532delinsCTT c.2576_2578delinsCTT (p.Ser859=) c.2963_2965delinsCTT (p.Ser988=) c.2327_2329delinsCTT (p.Ser776=) c.-613_-611delinsCTT (n.-613_-611delinsCTT) | |
5 | g.177211783T>A | CA447961104 | NSD1 | c.2511T>A (p.Ser837=) n.612+7491T>A n.2967T>A c.3075T>A (p.Ser1025=) n.2781T>A c.3384T>A (p.Ser1128=) n.3531T>A c.2577T>A (p.Ser859=) c.2964T>A (p.Ser988=) c.2328T>A (p.Ser776=) c.-612T>A (n.-612T>A) | gnomAD v4 |
5 | g.177211783T>C | CA447961105 | NSD1 | c.2511T>C (p.Ser837=) n.612+7491T>C n.2967T>C c.3075T>C (p.Ser1025=) n.2781T>C c.3384T>C (p.Ser1128=) n.3531T>C c.2577T>C (p.Ser859=) c.2964T>C (p.Ser988=) c.2328T>C (p.Ser776=) c.-612T>C (n.-612T>C) | |
5 | g.177211783T>G | CA447961106 | NSD1 | c.2511T>G (p.Ser837=) n.612+7491T>G n.2967T>G c.3075T>G (p.Ser1025=) n.2781T>G c.3384T>G (p.Ser1128=) n.3531T>G c.2577T>G (p.Ser859=) c.2964T>G (p.Ser988=) c.2328T>G (p.Ser776=) c.-612T>G (n.-612T>G) | |
5 | g.177211785_177211786del | CA658655925 | NSD1 | c.2513_2514del (p.Phe838Ter) n.612+7493_612+7494del n.2969_2970del c.3077_3078del (p.Phe1026Ter) n.2783_2784del c.3386_3387del (p.Phe1129Ter) n.3533_3534del c.2579_2580del (p.Phe860Ter) c.2966_2967del (p.Phe989Ter) c.2330_2331del (p.Phe777Ter) c.-610_-609del (n.-610_-609del) | ClinVar dbSNP |
5 | g.177211784T>A | CA362324200 | NSD1 | c.2512T>A (p.Phe838Ile) n.612+7492T>A n.2968T>A c.3076T>A (p.Phe1026Ile) n.2782T>A c.3385T>A (p.Phe1129Ile) n.3532T>A c.2578T>A (p.Phe860Ile) c.2965T>A (p.Phe989Ile) c.2329T>A (p.Phe777Ile) c.-611T>A (n.-611T>A) | |
5 | g.177211784T>C | CA362324201 | NSD1 | c.2512T>C (p.Phe838Leu) n.612+7492T>C n.2968T>C c.3076T>C (p.Phe1026Leu) n.2782T>C c.3385T>C (p.Phe1129Leu) n.3532T>C c.2578T>C (p.Phe860Leu) c.2965T>C (p.Phe989Leu) c.2329T>C (p.Phe777Leu) c.-611T>C (n.-611T>C) | |
5 | g.177211784T>G | CA362324202 | NSD1 | c.2512T>G (p.Phe838Val) n.612+7492T>G n.2968T>G c.3076T>G (p.Phe1026Val) n.2782T>G c.3385T>G (p.Phe1129Val) n.3532T>G c.2578T>G (p.Phe860Val) c.2965T>G (p.Phe989Val) c.2329T>G (p.Phe777Val) c.-611T>G (n.-611T>G) | |
5 | g.177211785T>A | CA362324205 | NSD1 | c.2513T>A (p.Phe838Tyr) n.612+7493T>A n.2969T>A c.3077T>A (p.Phe1026Tyr) n.2783T>A c.3386T>A (p.Phe1129Tyr) n.3533T>A c.2579T>A (p.Phe860Tyr) c.2966T>A (p.Phe989Tyr) c.2330T>A (p.Phe777Tyr) c.-610T>A (n.-610T>A) | |
5 | g.177211785T>C | CA362324207 | NSD1 | c.2513T>C (p.Phe838Ser) n.612+7493T>C n.2969T>C c.3077T>C (p.Phe1026Ser) n.2783T>C c.3386T>C (p.Phe1129Ser) n.3533T>C c.2579T>C (p.Phe860Ser) c.2966T>C (p.Phe989Ser) c.2330T>C (p.Phe777Ser) c.-610T>C (n.-610T>C) | dbSNP |
5 | g.177211785T>G | CA362324209 | NSD1 | c.2513T>G (p.Phe838Cys) n.612+7493T>G n.2969T>G c.3077T>G (p.Phe1026Cys) n.2783T>G c.3386T>G (p.Phe1129Cys) n.3533T>G c.2579T>G (p.Phe860Cys) c.2966T>G (p.Phe989Cys) c.2330T>G (p.Phe777Cys) c.-610T>G (n.-610T>G) | |
5 | g.177211785_177211788delinsTTGA | CA1603478892 | NSD1 | c.2513_2516delinsTTGA (p.Phe838=) n.612+7493_612+7496delinsTTGA n.2969_2972delinsTTGA c.3077_3080delinsTTGA (p.Phe1026=) n.2783_2786delinsTTGA c.3386_3389delinsTTGA (p.Phe1129=) n.3533_3536delinsTTGA c.2579_2582delinsTTGA (p.Phe860=) c.2966_2969delinsTTGA (p.Phe989=) c.2330_2333delinsTTGA (p.Phe777=) c.-610_-607delinsTTGA (n.-610_-607delinsTTGA) | |
5 | g.177211786T>A | CA362324214 | NSD1 | c.2514T>A (p.Phe838Leu) n.612+7494T>A n.2970T>A c.3078T>A (p.Phe1026Leu) n.2784T>A c.3387T>A (p.Phe1129Leu) n.3534T>A c.2580T>A (p.Phe860Leu) c.2967T>A (p.Phe989Leu) c.2331T>A (p.Phe777Leu) c.-609T>A (n.-609T>A) | |
5 | g.177211786T>C | CA3577427 | NSD1 | c.2514T>C (p.Phe838=) n.612+7494T>C n.2970T>C c.3078T>C (p.Phe1026=) n.2784T>C c.3387T>C (p.Phe1129=) n.3534T>C c.2580T>C (p.Phe860=) c.2967T>C (p.Phe989=) c.2331T>C (p.Phe777=) c.-609T>C (n.-609T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211786T>G | CA362324217 | NSD1 | c.2514T>G (p.Phe838Leu) n.612+7494T>G n.2970T>G c.3078T>G (p.Phe1026Leu) n.2784T>G c.3387T>G (p.Phe1129Leu) n.3534T>G c.2580T>G (p.Phe860Leu) c.2967T>G (p.Phe989Leu) c.2331T>G (p.Phe777Leu) c.-609T>G (n.-609T>G) | |
5 | g.177211786T= | CA1603478894 | NSD1 | c.2514T= (p.Phe838=) n.612+7494T= n.2970T= c.3078T= (p.Phe1026=) n.2784T= c.3387T= (p.Phe1129=) n.3534T= c.2580T= (p.Phe860=) c.2967T= (p.Phe989=) c.2331T= (p.Phe777=) c.-609T= (n.-609T=) | |
5 | g.177211786_177211788delinsGG | CA10588399 | NSD1 | c.2514_2516delinsGG (p.Phe838LeufsTer12) n.612+7494_612+7496delinsGG n.2970_2972delinsGG c.3078_3080delinsGG (p.Phe1026LeufsTer12) n.2784_2786delinsGG c.3387_3389delinsGG (p.Phe1129LeufsTer12) n.3534_3536delinsGG c.2580_2582delinsGG (p.Phe860LeufsTer12) c.2967_2969delinsGG (p.Phe989LeufsTer12) c.2331_2333delinsGG (p.Phe777LeufsTer12) c.-609_-607delinsGG (n.-609_-607delinsGG) | ClinVar dbSNP |
5 | g.177211787G>A | CA362324225 | NSD1 | c.2515G>A (p.Glu839Lys) n.612+7495G>A n.2971G>A c.3079G>A (p.Glu1027Lys) n.2785G>A c.3388G>A (p.Glu1130Lys) n.3535G>A c.2581G>A (p.Glu861Lys) c.2968G>A (p.Glu990Lys) c.2332G>A (p.Glu778Lys) c.-608G>A (n.-608G>A) | |
5 | g.177211787G>C | CA362324231 | NSD1 | c.2515G>C (p.Glu839Gln) n.612+7495G>C n.2971G>C c.3079G>C (p.Glu1027Gln) n.2785G>C c.3388G>C (p.Glu1130Gln) n.3535G>C c.2581G>C (p.Glu861Gln) c.2968G>C (p.Glu990Gln) c.2332G>C (p.Glu778Gln) c.-608G>C (n.-608G>C) | dbSNP COSMIC COSMIC |
5 | g.177211787G>T | CA362324227 | NSD1 | c.2515G>T (p.Glu839Ter) n.612+7495G>T n.2971G>T c.3079G>T (p.Glu1027Ter) n.2785G>T c.3388G>T (p.Glu1130Ter) n.3535G>T c.2581G>T (p.Glu861Ter) c.2968G>T (p.Glu990Ter) c.2332G>T (p.Glu778Ter) c.-608G>T (n.-608G>T) | |
5 | g.177211788A= | CA1603478903 | NSD1 | c.2516A= (p.Glu839=) n.612+7496A= n.2972A= c.3080A= (p.Glu1027=) n.2786A= c.3389A= (p.Glu1130=) n.3536A= c.2582A= (p.Glu861=) c.2969A= (p.Glu990=) c.2333A= (p.Glu778=) c.-607A= (n.-607A=) | |
5 | g.177211788A>C | CA362324234 | NSD1 | c.2516A>C (p.Glu839Ala) n.612+7496A>C n.2972A>C c.3080A>C (p.Glu1027Ala) n.2786A>C c.3389A>C (p.Glu1130Ala) n.3536A>C c.2582A>C (p.Glu861Ala) c.2969A>C (p.Glu990Ala) c.2333A>C (p.Glu778Ala) c.-607A>C (n.-607A>C) | |
5 | g.177211788A>G | CA223670 | NSD1 | c.2516A>G (p.Glu839Gly) n.612+7496A>G n.2972A>G c.3080A>G (p.Glu1027Gly) n.2786A>G c.3389A>G (p.Glu1130Gly) n.3536A>G c.2582A>G (p.Glu861Gly) c.2969A>G (p.Glu990Gly) c.2333A>G (p.Glu778Gly) c.-607A>G (n.-607A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211788A>T | CA362324240 | NSD1 | c.2516A>T (p.Glu839Val) n.612+7496A>T n.2972A>T c.3080A>T (p.Glu1027Val) n.2786A>T c.3389A>T (p.Glu1130Val) n.3536A>T c.2582A>T (p.Glu861Val) c.2969A>T (p.Glu990Val) c.2333A>T (p.Glu778Val) c.-607A>T (n.-607A>T) | |
5 | g.177211789A>C | CA362324243 | NSD1 | c.2517A>C (p.Glu839Asp) n.612+7497A>C n.2973A>C c.3081A>C (p.Glu1027Asp) n.2787A>C c.3390A>C (p.Glu1130Asp) n.3537A>C c.2583A>C (p.Glu861Asp) c.2970A>C (p.Glu990Asp) c.2334A>C (p.Glu778Asp) c.-606A>C (n.-606A>C) | |
5 | g.177211789A>G | CA447961107 | NSD1 | c.2517A>G (p.Glu839=) n.612+7497A>G n.2973A>G c.3081A>G (p.Glu1027=) n.2787A>G c.3390A>G (p.Glu1130=) n.3537A>G c.2583A>G (p.Glu861=) c.2970A>G (p.Glu990=) c.2334A>G (p.Glu778=) c.-606A>G (n.-606A>G) | |
5 | g.177211789A>T | CA362324246 | NSD1 | c.2517A>T (p.Glu839Asp) n.612+7497A>T n.2973A>T c.3081A>T (p.Glu1027Asp) n.2787A>T c.3390A>T (p.Glu1130Asp) n.3537A>T c.2583A>T (p.Glu861Asp) c.2970A>T (p.Glu990Asp) c.2334A>T (p.Glu778Asp) c.-606A>T (n.-606A>T) | |
5 | g.177211790A>C | CA362324250 | NSD1 | c.2518A>C (p.Asn840His) n.612+7498A>C n.2974A>C c.3082A>C (p.Asn1028His) n.2788A>C c.3391A>C (p.Asn1131His) n.3538A>C c.2584A>C (p.Asn862His) c.2971A>C (p.Asn991His) c.2335A>C (p.Asn779His) c.-605A>C (n.-605A>C) | |
5 | g.177211790A>G | CA362324253 | NSD1 | c.2518A>G (p.Asn840Asp) n.612+7498A>G n.2974A>G c.3082A>G (p.Asn1028Asp) n.2788A>G c.3391A>G (p.Asn1131Asp) n.3538A>G c.2584A>G (p.Asn862Asp) c.2971A>G (p.Asn991Asp) c.2335A>G (p.Asn779Asp) c.-605A>G (n.-605A>G) | gnomAD v4 |
5 | g.177211790A>T | CA362324254 | NSD1 | c.2518A>T (p.Asn840Tyr) n.612+7498A>T n.2974A>T c.3082A>T (p.Asn1028Tyr) n.2788A>T c.3391A>T (p.Asn1131Tyr) n.3538A>T c.2584A>T (p.Asn862Tyr) c.2971A>T (p.Asn991Tyr) c.2335A>T (p.Asn779Tyr) c.-605A>T (n.-605A>T) | |
5 | g.177211791A>C | CA362324259 | NSD1 | c.2519A>C (p.Asn840Thr) n.612+7499A>C n.2975A>C c.3083A>C (p.Asn1028Thr) n.2789A>C c.3392A>C (p.Asn1131Thr) n.3539A>C c.2585A>C (p.Asn862Thr) c.2972A>C (p.Asn991Thr) c.2336A>C (p.Asn779Thr) c.-604A>C (n.-604A>C) | |
5 | g.177211791A>G | CA362324261 | NSD1 | c.2519A>G (p.Asn840Ser) n.612+7499A>G n.2975A>G c.3083A>G (p.Asn1028Ser) n.2789A>G c.3392A>G (p.Asn1131Ser) n.3539A>G c.2585A>G (p.Asn862Ser) c.2972A>G (p.Asn991Ser) c.2336A>G (p.Asn779Ser) c.-604A>G (n.-604A>G) | |
5 | g.177211791A>T | CA362324265 | NSD1 | c.2519A>T (p.Asn840Ile) n.612+7499A>T n.2975A>T c.3083A>T (p.Asn1028Ile) n.2789A>T c.3392A>T (p.Asn1131Ile) n.3539A>T c.2585A>T (p.Asn862Ile) c.2972A>T (p.Asn991Ile) c.2336A>T (p.Asn779Ile) c.-604A>T (n.-604A>T) | |
5 | g.177211792C>A | CA362324276 | NSD1 | c.2520C>A (p.Asn840Lys) n.612+7500C>A n.2976C>A c.3084C>A (p.Asn1028Lys) n.2790C>A c.3393C>A (p.Asn1131Lys) n.3540C>A c.2586C>A (p.Asn862Lys) c.2973C>A (p.Asn991Lys) c.2337C>A (p.Asn779Lys) c.-603C>A (n.-603C>A) | |
5 | g.177211792C= | CA1603478920 | NSD1 | c.2520C= (p.Asn840=) n.612+7500C= n.2976C= c.3084C= (p.Asn1028=) n.2790C= c.3393C= (p.Asn1131=) n.3540C= c.2586C= (p.Asn862=) c.2973C= (p.Asn991=) c.2337C= (p.Asn779=) c.-603C= (n.-603C=) | |
5 | g.177211792C>G | CA362324271 | NSD1 | c.2520C>G (p.Asn840Lys) n.612+7500C>G n.2976C>G c.3084C>G (p.Asn1028Lys) n.2790C>G c.3393C>G (p.Asn1131Lys) n.3540C>G c.2586C>G (p.Asn862Lys) c.2973C>G (p.Asn991Lys) c.2337C>G (p.Asn779Lys) c.-603C>G (n.-603C>G) | dbSNP |
5 | g.177211792C>T | CA223673 | NSD1 | c.2520C>T (p.Asn840=) n.612+7500C>T n.2976C>T c.3084C>T (p.Asn1028=) n.2790C>T c.3393C>T (p.Asn1131=) n.3540C>T c.2586C>T (p.Asn862=) c.2973C>T (p.Asn991=) c.2337C>T (p.Asn779=) c.-603C>T (n.-603C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211793G>A | CA246224 | NSD1 | c.2521G>A (p.Gly841Arg) n.612+7501G>A n.2977G>A c.3085G>A (p.Gly1029Arg) n.2791G>A c.3394G>A (p.Gly1132Arg) n.3541G>A c.2587G>A (p.Gly863Arg) c.2974G>A (p.Gly992Arg) c.2338G>A (p.Gly780Arg) c.-602G>A (n.-602G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211793G>C | CA362324282 | NSD1 | c.2521G>C (p.Gly841Arg) n.612+7501G>C n.2977G>C c.3085G>C (p.Gly1029Arg) n.2791G>C c.3394G>C (p.Gly1132Arg) n.3541G>C c.2587G>C (p.Gly863Arg) c.2974G>C (p.Gly992Arg) c.2338G>C (p.Gly780Arg) c.-602G>C (n.-602G>C) | |
5 | g.177211793G= | CA1603478926 | NSD1 | c.2521G= (p.Gly841=) n.612+7501G= n.2977G= c.3085G= (p.Gly1029=) n.2791G= c.3394G= (p.Gly1132=) n.3541G= c.2587G= (p.Gly863=) c.2974G= (p.Gly992=) c.2338G= (p.Gly780=) c.-602G= (n.-602G=) | |
5 | g.177211793G>T | CA362324285 | NSD1 | c.2521G>T (p.Gly841Ter) n.612+7501G>T n.2977G>T c.3085G>T (p.Gly1029Ter) n.2791G>T c.3394G>T (p.Gly1132Ter) n.3541G>T c.2587G>T (p.Gly863Ter) c.2974G>T (p.Gly992Ter) c.2338G>T (p.Gly780Ter) c.-602G>T (n.-602G>T) | dbSNP COSMIC COSMIC |
5 | g.177211794G>A | CA362324290 | NSD1 | c.2522G>A (p.Gly841Glu) n.612+7502G>A n.2978G>A c.3086G>A (p.Gly1029Glu) n.2792G>A c.3395G>A (p.Gly1132Glu) n.3542G>A c.2588G>A (p.Gly863Glu) c.2975G>A (p.Gly992Glu) c.2339G>A (p.Gly780Glu) c.-601G>A (n.-601G>A) | dbSNP |
5 | g.177211794G>C | CA362324293 | NSD1 | c.2522G>C (p.Gly841Ala) n.612+7502G>C n.2978G>C c.3086G>C (p.Gly1029Ala) n.2792G>C c.3395G>C (p.Gly1132Ala) n.3542G>C c.2588G>C (p.Gly863Ala) c.2975G>C (p.Gly992Ala) c.2339G>C (p.Gly780Ala) c.-601G>C (n.-601G>C) | |
5 | g.177211794G= | CA1603478930 | NSD1 | c.2522G= (p.Gly841=) n.612+7502G= n.2978G= c.3086G= (p.Gly1029=) n.2792G= c.3395G= (p.Gly1132=) n.3542G= c.2588G= (p.Gly863=) c.2975G= (p.Gly992=) c.2339G= (p.Gly780=) c.-601G= (n.-601G=) | |
5 | g.177211794G>T | CA362324294 | NSD1 | c.2522G>T (p.Gly841Val) n.612+7502G>T n.2978G>T c.3086G>T (p.Gly1029Val) n.2792G>T c.3395G>T (p.Gly1132Val) n.3542G>T c.2588G>T (p.Gly863Val) c.2975G>T (p.Gly992Val) c.2339G>T (p.Gly780Val) c.-601G>T (n.-601G>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211795A= | CA1603478933 | NSD1 | c.2523A= (p.Gly841=) n.612+7503A= n.2979A= c.3087A= (p.Gly1029=) n.2793A= c.3396A= (p.Gly1132=) n.3543A= c.2589A= (p.Gly863=) c.2976A= (p.Gly992=) c.2340A= (p.Gly780=) c.-600A= (n.-600A=) | |
5 | g.177211795A>C | CA447961109 | NSD1 | c.2523A>C (p.Gly841=) n.612+7503A>C n.2979A>C c.3087A>C (p.Gly1029=) n.2793A>C c.3396A>C (p.Gly1132=) n.3543A>C c.2589A>C (p.Gly863=) c.2976A>C (p.Gly992=) c.2340A>C (p.Gly780=) c.-600A>C (n.-600A>C) | |
5 | g.177211795A>G | CA3577428 | NSD1 | c.2523A>G (p.Gly841=) n.612+7503A>G n.2979A>G c.3087A>G (p.Gly1029=) n.2793A>G c.3396A>G (p.Gly1132=) n.3543A>G c.2589A>G (p.Gly863=) c.2976A>G (p.Gly992=) c.2340A>G (p.Gly780=) c.-600A>G (n.-600A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211795A>T | CA447961110 | NSD1 | c.2523A>T (p.Gly841=) n.612+7503A>T n.2979A>T c.3087A>T (p.Gly1029=) n.2793A>T c.3396A>T (p.Gly1132=) n.3543A>T c.2589A>T (p.Gly863=) c.2976A>T (p.Gly992=) c.2340A>T (p.Gly780=) c.-600A>T (n.-600A>T) | |
5 | g.177211798del | CA2711102900 | NSD1 | c.2526del (p.Gly843AlafsTer7) n.612+7506del n.2982del c.3090del (p.Gly1031AlafsTer7) n.2796del c.3399del (p.Gly1134AlafsTer7) n.3546del c.2592del (p.Gly865AlafsTer7) c.2979del (p.Gly994AlafsTer7) c.2343del (p.Gly782AlafsTer7) c.-597del (n.-597del) | dbSNP |
5 | g.177211796A= | CA1603478939 | NSD1 | c.2524A= (p.Lys842=) n.612+7504A= n.2980A= c.3088A= (p.Lys1030=) n.2794A= c.3397A= (p.Lys1133=) n.3544A= c.2590A= (p.Lys864=) c.2977A= (p.Lys993=) c.2341A= (p.Lys781=) c.-599A= (n.-599A=) | |
5 | g.177211796A>C | CA362324301 | NSD1 | c.2524A>C (p.Lys842Gln) n.612+7504A>C n.2980A>C c.3088A>C (p.Lys1030Gln) n.2794A>C c.3397A>C (p.Lys1133Gln) n.3544A>C c.2590A>C (p.Lys864Gln) c.2977A>C (p.Lys993Gln) c.2341A>C (p.Lys781Gln) c.-599A>C (n.-599A>C) | |
5 | g.177211796A>G | CA10624121 | NSD1 | c.2524A>G (p.Lys842Glu) n.612+7504A>G n.2980A>G c.3088A>G (p.Lys1030Glu) n.2794A>G c.3397A>G (p.Lys1133Glu) n.3544A>G c.2590A>G (p.Lys864Glu) c.2977A>G (p.Lys993Glu) c.2341A>G (p.Lys781Glu) c.-599A>G (n.-599A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211796A>T | CA362324313 | NSD1 | c.2524A>T (p.Lys842Ter) n.612+7504A>T n.2980A>T c.3088A>T (p.Lys1030Ter) n.2794A>T c.3397A>T (p.Lys1133Ter) n.3544A>T c.2590A>T (p.Lys864Ter) c.2977A>T (p.Lys993Ter) c.2341A>T (p.Lys781Ter) c.-599A>T (n.-599A>T) | |
5 | g.177211797A>C | CA362324319 | NSD1 | c.2525A>C (p.Lys842Thr) n.612+7505A>C n.2981A>C c.3089A>C (p.Lys1030Thr) n.2795A>C c.3398A>C (p.Lys1133Thr) n.3545A>C c.2591A>C (p.Lys864Thr) c.2978A>C (p.Lys993Thr) c.2342A>C (p.Lys781Thr) c.-598A>C (n.-598A>C) | |
5 | g.177211797A>G | CA362324320 | NSD1 | c.2525A>G (p.Lys842Arg) n.612+7505A>G n.2981A>G c.3089A>G (p.Lys1030Arg) n.2795A>G c.3398A>G (p.Lys1133Arg) n.3545A>G c.2591A>G (p.Lys864Arg) c.2978A>G (p.Lys993Arg) c.2342A>G (p.Lys781Arg) c.-598A>G (n.-598A>G) | |
5 | g.177211797A>T | CA362324322 | NSD1 | c.2525A>T (p.Lys842Ile) n.612+7505A>T n.2981A>T c.3089A>T (p.Lys1030Ile) n.2795A>T c.3398A>T (p.Lys1133Ile) n.3545A>T c.2591A>T (p.Lys864Ile) c.2978A>T (p.Lys993Ile) c.2342A>T (p.Lys781Ile) c.-598A>T (n.-598A>T) | |
5 | g.177211798A>C | CA362324329 | NSD1 | c.2526A>C (p.Lys842Asn) n.612+7506A>C n.2982A>C c.3090A>C (p.Lys1030Asn) n.2796A>C c.3399A>C (p.Lys1133Asn) n.3546A>C c.2592A>C (p.Lys864Asn) c.2979A>C (p.Lys993Asn) c.2343A>C (p.Lys781Asn) c.-597A>C (n.-597A>C) | |
5 | g.177211798A>G | CA447961113 | NSD1 | c.2526A>G (p.Lys842=) n.612+7506A>G n.2982A>G c.3090A>G (p.Lys1030=) n.2796A>G c.3399A>G (p.Lys1133=) n.3546A>G c.2592A>G (p.Lys864=) c.2979A>G (p.Lys993=) c.2343A>G (p.Lys781=) c.-597A>G (n.-597A>G) | dbSNP |
5 | g.177211798A>T | CA362324325 | NSD1 | c.2526A>T (p.Lys842Asn) n.612+7506A>T n.2982A>T c.3090A>T (p.Lys1030Asn) n.2796A>T c.3399A>T (p.Lys1133Asn) n.3546A>T c.2592A>T (p.Lys864Asn) c.2979A>T (p.Lys993Asn) c.2343A>T (p.Lys781Asn) c.-597A>T (n.-597A>T) | |
5 | g.177211799G>A | CA362324333 | NSD1 | c.2527G>A (p.Gly843Ser) n.612+7507G>A n.2983G>A c.3091G>A (p.Gly1031Ser) n.2797G>A c.3400G>A (p.Gly1134Ser) n.3547G>A c.2593G>A (p.Gly865Ser) c.2980G>A (p.Gly994Ser) c.2344G>A (p.Gly782Ser) c.-596G>A (n.-596G>A) | gnomAD v4 |
5 | g.177211799G>C | CA362324339 | NSD1 | c.2527G>C (p.Gly843Arg) n.612+7507G>C n.2983G>C c.3091G>C (p.Gly1031Arg) n.2797G>C c.3400G>C (p.Gly1134Arg) n.3547G>C c.2593G>C (p.Gly865Arg) c.2980G>C (p.Gly994Arg) c.2344G>C (p.Gly782Arg) c.-596G>C (n.-596G>C) | dbSNP |
5 | g.177211799G= | CA1603478950 | NSD1 | c.2527G= (p.Gly843=) n.612+7507G= n.2983G= c.3091G= (p.Gly1031=) n.2797G= c.3400G= (p.Gly1134=) n.3547G= c.2593G= (p.Gly865=) c.2980G= (p.Gly994=) c.2344G= (p.Gly782=) c.-596G= (n.-596G=) | |
5 | g.177211799G>T | CA362324336 | NSD1 | c.2527G>T (p.Gly843Cys) n.612+7507G>T n.2983G>T c.3091G>T (p.Gly1031Cys) n.2797G>T c.3400G>T (p.Gly1134Cys) n.3547G>T c.2593G>T (p.Gly865Cys) c.2980G>T (p.Gly994Cys) c.2344G>T (p.Gly782Cys) c.-596G>T (n.-596G>T) | |
5 | g.177211800G>A | CA362324345 | NSD1 | c.2528G>A (p.Gly843Asp) n.612+7508G>A n.2984G>A c.3092G>A (p.Gly1031Asp) n.2798G>A c.3401G>A (p.Gly1134Asp) n.3548G>A c.2594G>A (p.Gly865Asp) c.2981G>A (p.Gly994Asp) c.2345G>A (p.Gly782Asp) c.-595G>A (n.-595G>A) | |
5 | g.177211800G>C | CA362324349 | NSD1 | c.2528G>C (p.Gly843Ala) n.612+7508G>C n.2984G>C c.3092G>C (p.Gly1031Ala) n.2798G>C c.3401G>C (p.Gly1134Ala) n.3548G>C c.2594G>C (p.Gly865Ala) c.2981G>C (p.Gly994Ala) c.2345G>C (p.Gly782Ala) c.-595G>C (n.-595G>C) | |
5 | g.177211800G>T | CA362324346 | NSD1 | c.2528G>T (p.Gly843Val) n.612+7508G>T n.2984G>T c.3092G>T (p.Gly1031Val) n.2798G>T c.3401G>T (p.Gly1134Val) n.3548G>T c.2594G>T (p.Gly865Val) c.2981G>T (p.Gly994Val) c.2345G>T (p.Gly782Val) c.-595G>T (n.-595G>T) | |
5 | g.177211801C>A | CA447961117 | NSD1 | c.2529C>A (p.Gly843=) n.612+7509C>A n.2985C>A c.3093C>A (p.Gly1031=) n.2799C>A c.3402C>A (p.Gly1134=) n.3549C>A c.2595C>A (p.Gly865=) c.2982C>A (p.Gly994=) c.2346C>A (p.Gly782=) c.-594C>A (n.-594C>A) | |
5 | g.177211801C>G | CA447961116 | NSD1 | c.2529C>G (p.Gly843=) n.612+7509C>G n.2985C>G c.3093C>G (p.Gly1031=) n.2799C>G c.3402C>G (p.Gly1134=) n.3549C>G c.2595C>G (p.Gly865=) c.2982C>G (p.Gly994=) c.2346C>G (p.Gly782=) c.-594C>G (n.-594C>G) | |
5 | g.177211801C>T | CA447961115 | NSD1 | c.2529C>T (p.Gly843=) n.612+7509C>T n.2985C>T c.3093C>T (p.Gly1031=) n.2799C>T c.3402C>T (p.Gly1134=) n.3549C>T c.2595C>T (p.Gly865=) c.2982C>T (p.Gly994=) c.2346C>T (p.Gly782=) c.-594C>T (n.-594C>T) | dbSNP gnomAD v4 |
5 | g.177211803del | CA2695202837 | NSD1 | c.2531del (p.Pro844GlnfsTer6) n.612+7511del n.2987del c.3095del (p.Pro1032GlnfsTer6) n.2801del c.3404del (p.Pro1135GlnfsTer6) n.3551del c.2597del (p.Pro866GlnfsTer6) c.2984del (p.Pro995GlnfsTer6) c.2348del (p.Pro783GlnfsTer6) c.-592del (n.-592del) | |
5 | g.177211802C>A | CA362324353 | NSD1 | c.2530C>A (p.Pro844Thr) n.612+7510C>A n.2986C>A c.3094C>A (p.Pro1032Thr) n.2800C>A c.3403C>A (p.Pro1135Thr) n.3550C>A c.2596C>A (p.Pro866Thr) c.2983C>A (p.Pro995Thr) c.2347C>A (p.Pro783Thr) c.-593C>A (n.-593C>A) | gnomAD v4 |
5 | g.177211802C= | CA1603478955 | NSD1 | c.2530C= (p.Pro844=) n.612+7510C= n.2986C= c.3094C= (p.Pro1032=) n.2800C= c.3403C= (p.Pro1135=) n.3550C= c.2596C= (p.Pro866=) c.2983C= (p.Pro995=) c.2347C= (p.Pro783=) c.-593C= (n.-593C=) | |
5 | g.177211802C>G | CA3577429 | NSD1 | c.2530C>G (p.Pro844Ala) n.612+7510C>G n.2986C>G c.3094C>G (p.Pro1032Ala) n.2800C>G c.3403C>G (p.Pro1135Ala) n.3550C>G c.2596C>G (p.Pro866Ala) c.2983C>G (p.Pro995Ala) c.2347C>G (p.Pro783Ala) c.-593C>G (n.-593C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211802C>T | CA362324358 | NSD1 | c.2530C>T (p.Pro844Ser) n.612+7510C>T n.2986C>T c.3094C>T (p.Pro1032Ser) n.2800C>T c.3403C>T (p.Pro1135Ser) n.3550C>T c.2596C>T (p.Pro866Ser) c.2983C>T (p.Pro995Ser) c.2347C>T (p.Pro783Ser) c.-593C>T (n.-593C>T) | gnomAD v4 |
5 | g.177211803C>A | CA362324362 | NSD1 | c.2531C>A (p.Pro844Gln) n.612+7511C>A n.2987C>A c.3095C>A (p.Pro1032Gln) n.2801C>A c.3404C>A (p.Pro1135Gln) n.3551C>A c.2597C>A (p.Pro866Gln) c.2984C>A (p.Pro995Gln) c.2348C>A (p.Pro783Gln) c.-592C>A (n.-592C>A) | |
5 | g.177211803C= | CA1603479001 | NSD1 | c.2531C= (p.Pro844=) n.612+7511C= n.2987C= c.3095C= (p.Pro1032=) n.2801C= c.3404C= (p.Pro1135=) n.3551C= c.2597C= (p.Pro866=) c.2984C= (p.Pro995=) c.2348C= (p.Pro783=) c.-592C= (n.-592C=) | |
5 | g.177211803C>G | CA362324365 | NSD1 | c.2531C>G (p.Pro844Arg) n.612+7511C>G n.2987C>G c.3095C>G (p.Pro1032Arg) n.2801C>G c.3404C>G (p.Pro1135Arg) n.3551C>G c.2597C>G (p.Pro866Arg) c.2984C>G (p.Pro995Arg) c.2348C>G (p.Pro783Arg) c.-592C>G (n.-592C>G) | |
5 | g.177211803C>T | CA132831436 | NSD1 | c.2531C>T (p.Pro844Leu) n.612+7511C>T n.2987C>T c.3095C>T (p.Pro1032Leu) n.2801C>T c.3404C>T (p.Pro1135Leu) n.3551C>T c.2597C>T (p.Pro866Leu) c.2984C>T (p.Pro995Leu) c.2348C>T (p.Pro783Leu) c.-592C>T (n.-592C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211804A>C | CA447961119 | NSD1 | c.2532A>C (p.Pro844=) n.612+7512A>C n.2988A>C c.3096A>C (p.Pro1032=) n.2802A>C c.3405A>C (p.Pro1135=) n.3552A>C c.2598A>C (p.Pro866=) c.2985A>C (p.Pro995=) c.2349A>C (p.Pro783=) c.-591A>C (n.-591A>C) | |
5 | g.177211804A>G | CA447961120 | NSD1 | c.2532A>G (p.Pro844=) n.612+7512A>G n.2988A>G c.3096A>G (p.Pro1032=) n.2802A>G c.3405A>G (p.Pro1135=) n.3552A>G c.2598A>G (p.Pro866=) c.2985A>G (p.Pro995=) c.2349A>G (p.Pro783=) c.-591A>G (n.-591A>G) | gnomAD v4 |
5 | g.177211804A>T | CA447961121 | NSD1 | c.2532A>T (p.Pro844=) n.612+7512A>T n.2988A>T c.3096A>T (p.Pro1032=) n.2802A>T c.3405A>T (p.Pro1135=) n.3552A>T c.2598A>T (p.Pro866=) c.2985A>T (p.Pro995=) c.2349A>T (p.Pro783=) c.-591A>T (n.-591A>T) | |
5 | g.177211805G>A | CA362324371 | NSD1 | c.2533G>A (p.Glu845Lys) n.612+7513G>A n.2989G>A c.3097G>A (p.Glu1033Lys) n.2803G>A c.3406G>A (p.Glu1136Lys) n.3553G>A c.2599G>A (p.Glu867Lys) c.2986G>A (p.Glu996Lys) c.2350G>A (p.Glu784Lys) c.-590G>A (n.-590G>A) | COSMIC COSMIC |
5 | g.177211805G>C | CA362324374 | NSD1 | c.2533G>C (p.Glu845Gln) n.612+7513G>C n.2989G>C c.3097G>C (p.Glu1033Gln) n.2803G>C c.3406G>C (p.Glu1136Gln) n.3553G>C c.2599G>C (p.Glu867Gln) c.2986G>C (p.Glu996Gln) c.2350G>C (p.Glu784Gln) c.-590G>C (n.-590G>C) | dbSNP |
5 | g.177211805G= | CA1603479002 | NSD1 | c.2533G= (p.Glu845=) n.612+7513G= n.2989G= c.3097G= (p.Glu1033=) n.2803G= c.3406G= (p.Glu1136=) n.3553G= c.2599G= (p.Glu867=) c.2986G= (p.Glu996=) c.2350G= (p.Glu784=) c.-590G= (n.-590G=) | |
5 | g.177211805G>T | CA362324378 | NSD1 | c.2533G>T (p.Glu845Ter) n.612+7513G>T n.2989G>T c.3097G>T (p.Glu1033Ter) n.2803G>T c.3406G>T (p.Glu1136Ter) n.3553G>T c.2599G>T (p.Glu867Ter) c.2986G>T (p.Glu996Ter) c.2350G>T (p.Glu784Ter) c.-590G>T (n.-590G>T) | |
5 | g.177211806A= | CA1603479006 | NSD1 | c.2534A= (p.Glu845=) n.612+7514A= n.2990A= c.3098A= (p.Glu1033=) n.2804A= c.3407A= (p.Glu1136=) n.3554A= c.2600A= (p.Glu867=) c.2987A= (p.Glu996=) c.2351A= (p.Glu784=) c.-589A= (n.-589A=) | |
5 | g.177211806A>C | CA362324383 | NSD1 | c.2534A>C (p.Glu845Ala) n.612+7514A>C n.2990A>C c.3098A>C (p.Glu1033Ala) n.2804A>C c.3407A>C (p.Glu1136Ala) n.3554A>C c.2600A>C (p.Glu867Ala) c.2987A>C (p.Glu996Ala) c.2351A>C (p.Glu784Ala) c.-589A>C (n.-589A>C) | |
5 | g.177211806A>G | CA362324385 | NSD1 | c.2534A>G (p.Glu845Gly) n.612+7514A>G n.2990A>G c.3098A>G (p.Glu1033Gly) n.2804A>G c.3407A>G (p.Glu1136Gly) n.3554A>G c.2600A>G (p.Glu867Gly) c.2987A>G (p.Glu996Gly) c.2351A>G (p.Glu784Gly) c.-589A>G (n.-589A>G) | dbSNP gnomAD v4 |
5 | g.177211806A>T | CA362324389 | NSD1 | c.2534A>T (p.Glu845Val) n.612+7514A>T n.2990A>T c.3098A>T (p.Glu1033Val) n.2804A>T c.3407A>T (p.Glu1136Val) n.3554A>T c.2600A>T (p.Glu867Val) c.2987A>T (p.Glu996Val) c.2351A>T (p.Glu784Val) c.-589A>T (n.-589A>T) | |
5 | g.177211807G>A | CA447961126 | NSD1 | c.2535G>A (p.Glu845=) n.612+7515G>A n.2991G>A c.3099G>A (p.Glu1033=) n.2805G>A c.3408G>A (p.Glu1136=) n.3555G>A c.2601G>A (p.Glu867=) c.2988G>A (p.Glu996=) c.2352G>A (p.Glu784=) c.-588G>A (n.-588G>A) | gnomAD v4 |
5 | g.177211807G>C | CA362324396 | NSD1 | c.2535G>C (p.Glu845Asp) n.612+7515G>C n.2991G>C c.3099G>C (p.Glu1033Asp) n.2805G>C c.3408G>C (p.Glu1136Asp) n.3555G>C c.2601G>C (p.Glu867Asp) c.2988G>C (p.Glu996Asp) c.2352G>C (p.Glu784Asp) c.-588G>C (n.-588G>C) | |
5 | g.177211807G>T | CA362324393 | NSD1 | c.2535G>T (p.Glu845Asp) n.612+7515G>T n.2991G>T c.3099G>T (p.Glu1033Asp) n.2805G>T c.3408G>T (p.Glu1136Asp) n.3555G>T c.2601G>T (p.Glu867Asp) c.2988G>T (p.Glu996Asp) c.2352G>T (p.Glu784Asp) c.-588G>T (n.-588G>T) | |
5 | g.177211808C>A | CA3577431 | NSD1 | c.2536C>A (p.Leu846Met) n.612+7516C>A n.2992C>A c.3100C>A (p.Leu1034Met) n.2806C>A c.3409C>A (p.Leu1137Met) n.3556C>A c.2602C>A (p.Leu868Met) c.2989C>A (p.Leu997Met) c.2353C>A (p.Leu785Met) c.-587C>A (n.-587C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211808C= | CA1603479008 | NSD1 | c.2536C= (p.Leu846=) n.612+7516C= n.2992C= c.3100C= (p.Leu1034=) n.2806C= c.3409C= (p.Leu1137=) n.3556C= c.2602C= (p.Leu868=) c.2989C= (p.Leu997=) c.2353C= (p.Leu785=) c.-587C= (n.-587C=) | |
5 | g.177211808C>G | CA362324403 | NSD1 | c.2536C>G (p.Leu846Val) n.612+7516C>G n.2992C>G c.3100C>G (p.Leu1034Val) n.2806C>G c.3409C>G (p.Leu1137Val) n.3556C>G c.2602C>G (p.Leu868Val) c.2989C>G (p.Leu997Val) c.2353C>G (p.Leu785Val) c.-587C>G (n.-587C>G) | dbSNP |
5 | g.177211808C>T | CA3577430 | NSD1 | c.2536C>T (p.Leu846=) n.612+7516C>T n.2992C>T c.3100C>T (p.Leu1034=) n.2806C>T c.3409C>T (p.Leu1137=) n.3556C>T c.2602C>T (p.Leu868=) c.2989C>T (p.Leu997=) c.2353C>T (p.Leu785=) c.-587C>T (n.-587C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211809del | CA2676687587 | NSD1 | c.2537del (p.Leu846ArgfsTer4) n.612+7517del n.2993del c.3101del (p.Leu1034ArgfsTer4) n.2807del c.3410del (p.Leu1137ArgfsTer4) n.3557del c.2603del (p.Leu868ArgfsTer4) c.2990del (p.Leu997ArgfsTer4) c.2354del (p.Leu785ArgfsTer4) c.-586del (n.-586del) | gnomAD v4 |
5 | g.177211809T>A | CA362324411 | NSD1 | c.2537T>A (p.Leu846Gln) n.612+7517T>A n.2993T>A c.3101T>A (p.Leu1034Gln) n.2807T>A c.3410T>A (p.Leu1137Gln) n.3557T>A c.2603T>A (p.Leu868Gln) c.2990T>A (p.Leu997Gln) c.2354T>A (p.Leu785Gln) c.-586T>A (n.-586T>A) | |
5 | g.177211809T>C | CA362324415 | NSD1 | c.2537T>C (p.Leu846Pro) n.612+7517T>C n.2993T>C c.3101T>C (p.Leu1034Pro) n.2807T>C c.3410T>C (p.Leu1137Pro) n.3557T>C c.2603T>C (p.Leu868Pro) c.2990T>C (p.Leu997Pro) c.2354T>C (p.Leu785Pro) c.-586T>C (n.-586T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211809T>G | CA362324418 | NSD1 | c.2537T>G (p.Leu846Arg) n.612+7517T>G n.2993T>G c.3101T>G (p.Leu1034Arg) n.2807T>G c.3410T>G (p.Leu1137Arg) n.3557T>G c.2603T>G (p.Leu868Arg) c.2990T>G (p.Leu997Arg) c.2354T>G (p.Leu785Arg) c.-586T>G (n.-586T>G) | |
5 | g.177211809T= | CA1603479011 | NSD1 | c.2537T= (p.Leu846=) n.612+7517T= n.2993T= c.3101T= (p.Leu1034=) n.2807T= c.3410T= (p.Leu1137=) n.3557T= c.2603T= (p.Leu868=) c.2990T= (p.Leu997=) c.2354T= (p.Leu785=) c.-586T= (n.-586T=) | |
5 | g.177211810G>A | CA447961131 | NSD1 | c.2538G>A (p.Leu846=) n.612+7518G>A n.2994G>A c.3102G>A (p.Leu1034=) n.2808G>A c.3411G>A (p.Leu1137=) n.3558G>A c.2604G>A (p.Leu868=) c.2991G>A (p.Leu997=) c.2355G>A (p.Leu785=) c.-585G>A (n.-585G>A) | gnomAD v4 |
5 | g.177211810G>C | CA447961132 | NSD1 | c.2538G>C (p.Leu846=) n.612+7518G>C n.2994G>C c.3102G>C (p.Leu1034=) n.2808G>C c.3411G>C (p.Leu1137=) n.3558G>C c.2604G>C (p.Leu868=) c.2991G>C (p.Leu997=) c.2355G>C (p.Leu785=) c.-585G>C (n.-585G>C) | |
5 | g.177211810G>T | CA447961133 | NSD1 | c.2538G>T (p.Leu846=) n.612+7518G>T n.2994G>T c.3102G>T (p.Leu1034=) n.2808G>T c.3411G>T (p.Leu1137=) n.3558G>T c.2604G>T (p.Leu868=) c.2991G>T (p.Leu997=) c.2355G>T (p.Leu785=) c.-585G>T (n.-585G>T) | |
5 | g.177211811G>A | CA3577432 | NSD1 | c.2539G>A (p.Asp847Asn) n.612+7519G>A n.2995G>A c.3103G>A (p.Asp1035Asn) n.2809G>A c.3412G>A (p.Asp1138Asn) n.3559G>A c.2605G>A (p.Asp869Asn) c.2992G>A (p.Asp998Asn) c.2356G>A (p.Asp786Asn) c.-584G>A (n.-584G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211811G>C | CA362324423 | NSD1 | c.2539G>C (p.Asp847His) n.612+7519G>C n.2995G>C c.3103G>C (p.Asp1035His) n.2809G>C c.3412G>C (p.Asp1138His) n.3559G>C c.2605G>C (p.Asp869His) c.2992G>C (p.Asp998His) c.2356G>C (p.Asp786His) c.-584G>C (n.-584G>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211811G= | CA1603479024 | NSD1 | c.2539G= (p.Asp847=) n.612+7519G= n.2995G= c.3103G= (p.Asp1035=) n.2809G= c.3412G= (p.Asp1138=) n.3559G= c.2605G= (p.Asp869=) c.2992G= (p.Asp998=) c.2356G= (p.Asp786=) c.-584G= (n.-584G=) | |
5 | g.177211811G>T | CA362324426 | NSD1 | c.2539G>T (p.Asp847Tyr) n.612+7519G>T n.2995G>T c.3103G>T (p.Asp1035Tyr) n.2809G>T c.3412G>T (p.Asp1138Tyr) n.3559G>T c.2605G>T (p.Asp869Tyr) c.2992G>T (p.Asp998Tyr) c.2356G>T (p.Asp786Tyr) c.-584G>T (n.-584G>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211812A>C | CA362324430 | NSD1 | c.2540A>C (p.Asp847Ala) n.612+7520A>C n.2996A>C c.3104A>C (p.Asp1035Ala) n.2810A>C c.3413A>C (p.Asp1138Ala) n.3560A>C c.2606A>C (p.Asp869Ala) c.2993A>C (p.Asp998Ala) c.2357A>C (p.Asp786Ala) c.-583A>C (n.-583A>C) | |
5 | g.177211812A>G | CA362324433 | NSD1 | c.2540A>G (p.Asp847Gly) n.612+7520A>G n.2996A>G c.3104A>G (p.Asp1035Gly) n.2810A>G c.3413A>G (p.Asp1138Gly) n.3560A>G c.2606A>G (p.Asp869Gly) c.2993A>G (p.Asp998Gly) c.2357A>G (p.Asp786Gly) c.-583A>G (n.-583A>G) | |
5 | g.177211812A>T | CA362324435 | NSD1 | c.2540A>T (p.Asp847Val) n.612+7520A>T n.2996A>T c.3104A>T (p.Asp1035Val) n.2810A>T c.3413A>T (p.Asp1138Val) n.3560A>T c.2606A>T (p.Asp869Val) c.2993A>T (p.Asp998Val) c.2357A>T (p.Asp786Val) c.-583A>T (n.-583A>T) | |
5 | g.177211813C>A | CA362324440 | NSD1 | c.2541C>A (p.Asp847Glu) n.612+7521C>A n.2997C>A c.3105C>A (p.Asp1035Glu) n.2811C>A c.3414C>A (p.Asp1138Glu) n.3561C>A c.2607C>A (p.Asp869Glu) c.2994C>A (p.Asp998Glu) c.2358C>A (p.Asp786Glu) c.-582C>A (n.-582C>A) | |
5 | g.177211813C>G | CA362324441 | NSD1 | c.2541C>G (p.Asp847Glu) n.612+7521C>G n.2997C>G c.3105C>G (p.Asp1035Glu) n.2811C>G c.3414C>G (p.Asp1138Glu) n.3561C>G c.2607C>G (p.Asp869Glu) c.2994C>G (p.Asp998Glu) c.2358C>G (p.Asp786Glu) c.-582C>G (n.-582C>G) | |
5 | g.177211813C>T | CA447961138 | NSD1 | c.2541C>T (p.Asp847=) n.612+7521C>T n.2997C>T c.3105C>T (p.Asp1035=) n.2811C>T c.3414C>T (p.Asp1138=) n.3561C>T c.2607C>T (p.Asp869=) c.2994C>T (p.Asp998=) c.2358C>T (p.Asp786=) c.-582C>T (n.-582C>T) | |
5 | g.177211814T>A | CA362324445 | NSD1 | c.2542T>A (p.Ser848Thr) n.612+7522T>A n.2998T>A c.3106T>A (p.Ser1036Thr) n.2812T>A c.3415T>A (p.Ser1139Thr) n.3562T>A c.2608T>A (p.Ser870Thr) c.2995T>A (p.Ser999Thr) c.2359T>A (p.Ser787Thr) c.-581T>A (n.-581T>A) | |
5 | g.177211814T>C | CA362324448 | NSD1 | c.2542T>C (p.Ser848Pro) n.612+7522T>C n.2998T>C c.3106T>C (p.Ser1036Pro) n.2812T>C c.3415T>C (p.Ser1139Pro) n.3562T>C c.2608T>C (p.Ser870Pro) c.2995T>C (p.Ser999Pro) c.2359T>C (p.Ser787Pro) c.-581T>C (n.-581T>C) | |
5 | g.177211814T>G | CA362324451 | NSD1 | c.2542T>G (p.Ser848Ala) n.612+7522T>G n.2998T>G c.3106T>G (p.Ser1036Ala) n.2812T>G c.3415T>G (p.Ser1139Ala) n.3562T>G c.2608T>G (p.Ser870Ala) c.2995T>G (p.Ser999Ala) c.2359T>G (p.Ser787Ala) c.-581T>G (n.-581T>G) | |
5 | g.177211815C>A | CA362324456 | NSD1 | c.2543C>A (p.Ser848Tyr) n.612+7523C>A n.2999C>A c.3107C>A (p.Ser1036Tyr) n.2813C>A c.3416C>A (p.Ser1139Tyr) n.3563C>A c.2609C>A (p.Ser870Tyr) c.2996C>A (p.Ser999Tyr) c.2360C>A (p.Ser787Tyr) c.-580C>A (n.-580C>A) | |
5 | g.177211815C>G | CA362324458 | NSD1 | c.2543C>G (p.Ser848Cys) n.612+7523C>G n.2999C>G c.3107C>G (p.Ser1036Cys) n.2813C>G c.3416C>G (p.Ser1139Cys) n.3563C>G c.2609C>G (p.Ser870Cys) c.2996C>G (p.Ser999Cys) c.2360C>G (p.Ser787Cys) c.-580C>G (n.-580C>G) | dbSNP |
5 | g.177211815C>T | CA362324461 | NSD1 | c.2543C>T (p.Ser848Phe) n.612+7523C>T n.2999C>T c.3107C>T (p.Ser1036Phe) n.2813C>T c.3416C>T (p.Ser1139Phe) n.3563C>T c.2609C>T (p.Ser870Phe) c.2996C>T (p.Ser999Phe) c.2360C>T (p.Ser787Phe) c.-580C>T (n.-580C>T) | |
5 | g.177211815_177211817delinsCTG | CA1603479033 | NSD1 | c.2543_2545delinsCTG (p.Ser848=) n.612+7523_612+7525delinsCTG n.2999_3001delinsCTG c.3107_3109delinsCTG (p.Ser1036=) n.2813_2815delinsCTG c.3416_3418delinsCTG (p.Ser1139=) n.3563_3565delinsCTG c.2609_2611delinsCTG (p.Ser870=) c.2996_2998delinsCTG (p.Ser999=) c.2360_2362delinsCTG (p.Ser787=) c.-580_-578delinsCTG (n.-580_-578delinsCTG) | |
5 | g.177211816T>A | CA447961139 | NSD1 | c.2544T>A (p.Ser848=) n.612+7524T>A n.3000T>A c.3108T>A (p.Ser1036=) n.2814T>A c.3417T>A (p.Ser1139=) n.3564T>A c.2610T>A (p.Ser870=) c.2997T>A (p.Ser999=) c.2361T>A (p.Ser787=) c.-579T>A (n.-579T>A) | COSMIC COSMIC |
5 | g.177211816T>C | CA447961140 | NSD1 | c.2544T>C (p.Ser848=) n.612+7524T>C n.3000T>C c.3108T>C (p.Ser1036=) n.2814T>C c.3417T>C (p.Ser1139=) n.3564T>C c.2610T>C (p.Ser870=) c.2997T>C (p.Ser999=) c.2361T>C (p.Ser787=) c.-579T>C (n.-579T>C) | |
5 | g.177211816T>G | CA447961141 | NSD1 | c.2544T>G (p.Ser848=) n.612+7524T>G n.3000T>G c.3108T>G (p.Ser1036=) n.2814T>G c.3417T>G (p.Ser1139=) n.3564T>G c.2610T>G (p.Ser870=) c.2997T>G (p.Ser999=) c.2361T>G (p.Ser787=) c.-579T>G (n.-579T>G) | |
5 | g.177211817_177211818del | CA1139655898 | NSD1 | c.2545_2546del (p.Val849AsnfsTer4) n.612+7525_612+7526del n.3001_3002del c.3109_3110del (p.Val1037AsnfsTer4) n.2815_2816del c.3418_3419del (p.Val1140AsnfsTer4) n.3565_3566del c.2611_2612del (p.Val871AsnfsTer4) c.2998_2999del (p.Val1000AsnfsTer4) c.2362_2363del (p.Val788AsnfsTer4) c.-578_-577del (n.-578_-577del) | ClinVar dbSNP |
5 | g.177211817G>A | CA362324466 | NSD1 | c.2545G>A (p.Val849Ile) n.612+7525G>A n.3001G>A c.3109G>A (p.Val1037Ile) n.2815G>A c.3418G>A (p.Val1140Ile) n.3565G>A c.2611G>A (p.Val871Ile) c.2998G>A (p.Val1000Ile) c.2362G>A (p.Val788Ile) c.-578G>A (n.-578G>A) | ClinVar dbSNP gnomAD v4 |
5 | g.177211817G>C | CA362324467 | NSD1 | c.2545G>C (p.Val849Leu) n.612+7525G>C n.3001G>C c.3109G>C (p.Val1037Leu) n.2815G>C c.3418G>C (p.Val1140Leu) n.3565G>C c.2611G>C (p.Val871Leu) c.2998G>C (p.Val1000Leu) c.2362G>C (p.Val788Leu) c.-578G>C (n.-578G>C) | gnomAD v4 |
5 | g.177211817G= | CA1603479047 | NSD1 | c.2545G= (p.Val849=) n.612+7525G= n.3001G= c.3109G= (p.Val1037=) n.2815G= c.3418G= (p.Val1140=) n.3565G= c.2611G= (p.Val871=) c.2998G= (p.Val1000=) c.2362G= (p.Val788=) c.-578G= (n.-578G=) | |
5 | g.177211817G>T | CA362324472 | NSD1 | c.2545G>T (p.Val849Leu) n.612+7525G>T n.3001G>T c.3109G>T (p.Val1037Leu) n.2815G>T c.3418G>T (p.Val1140Leu) n.3565G>T c.2611G>T (p.Val871Leu) c.2998G>T (p.Val1000Leu) c.2362G>T (p.Val788Leu) c.-578G>T (n.-578G>T) | |
5 | g.177211818T>A | CA362324477 | NSD1 | c.2546T>A (p.Val849Glu) n.612+7526T>A n.3002T>A c.3110T>A (p.Val1037Glu) n.2816T>A c.3419T>A (p.Val1140Glu) n.3566T>A c.2612T>A (p.Val871Glu) c.2999T>A (p.Val1000Glu) c.2363T>A (p.Val788Glu) c.-577T>A (n.-577T>A) | |
5 | g.177211818T>C | CA362324479 | NSD1 | c.2546T>C (p.Val849Ala) n.612+7526T>C n.3002T>C c.3110T>C (p.Val1037Ala) n.2816T>C c.3419T>C (p.Val1140Ala) n.3566T>C c.2612T>C (p.Val871Ala) c.2999T>C (p.Val1000Ala) c.2363T>C (p.Val788Ala) c.-577T>C (n.-577T>C) | |
5 | g.177211818T>G | CA362324481 | NSD1 | c.2546T>G (p.Val849Gly) n.612+7526T>G n.3002T>G c.3110T>G (p.Val1037Gly) n.2816T>G c.3419T>G (p.Val1140Gly) n.3566T>G c.2612T>G (p.Val871Gly) c.2999T>G (p.Val1000Gly) c.2363T>G (p.Val788Gly) c.-577T>G (n.-577T>G) | dbSNP |
5 | g.177211819A>C | CA447961143 | NSD1 | c.2547A>C (p.Val849=) n.612+7527A>C n.3003A>C c.3111A>C (p.Val1037=) n.2817A>C c.3420A>C (p.Val1140=) n.3567A>C c.2613A>C (p.Val871=) c.3000A>C (p.Val1000=) c.2364A>C (p.Val788=) c.-576A>C (n.-576A>C) | |
5 | g.177211819A>G | CA447961144 | NSD1 | c.2547A>G (p.Val849=) n.612+7527A>G n.3003A>G c.3111A>G (p.Val1037=) n.2817A>G c.3420A>G (p.Val1140=) n.3567A>G c.2613A>G (p.Val871=) c.3000A>G (p.Val1000=) c.2364A>G (p.Val788=) c.-576A>G (n.-576A>G) | |
5 | g.177211819A>T | CA447961145 | NSD1 | c.2547A>T (p.Val849=) n.612+7527A>T n.3003A>T c.3111A>T (p.Val1037=) n.2817A>T c.3420A>T (p.Val1140=) n.3567A>T c.2613A>T (p.Val871=) c.3000A>T (p.Val1000=) c.2364A>T (p.Val788=) c.-576A>T (n.-576A>T) | |
5 | g.177211819_177211825delinsGAG | CA2695202838 | NSD1 | c.2547_2553delinsGAG (p.Met850ArgfsTer10) n.612+7527_612+7533delinsGAG n.3003_3009delinsGAG c.3111_3117delinsGAG (p.Met1038ArgfsTer10) n.2817_2823delinsGAG c.3420_3426delinsGAG (p.Met1141ArgfsTer10) n.3567_3573delinsGAG c.2613_2619delinsGAG (p.Met872ArgfsTer10) c.3000_3006delinsGAG (p.Met1001ArgfsTer10) c.2364_2370delinsGAG (p.Met789ArgfsTer10) c.-576_-570delinsGAG (n.-576_-570delinsGAG) | |
5 | g.177211820A>C | CA362324492 | NSD1 | c.2548A>C (p.Met850Leu) n.612+7528A>C n.3004A>C c.3112A>C (p.Met1038Leu) n.2818A>C c.3421A>C (p.Met1141Leu) n.3568A>C c.2614A>C (p.Met872Leu) c.3001A>C (p.Met1001Leu) c.2365A>C (p.Met789Leu) c.-575A>C (n.-575A>C) | |
5 | g.177211820A>G | CA362324487 | NSD1 | c.2548A>G (p.Met850Val) n.612+7528A>G n.3004A>G c.3112A>G (p.Met1038Val) n.2818A>G c.3421A>G (p.Met1141Val) n.3568A>G c.2614A>G (p.Met872Val) c.3001A>G (p.Met1001Val) c.2365A>G (p.Met789Val) c.-575A>G (n.-575A>G) | |
5 | g.177211820A>T | CA362324489 | NSD1 | c.2548A>T (p.Met850Leu) n.612+7528A>T n.3004A>T c.3112A>T (p.Met1038Leu) n.2818A>T c.3421A>T (p.Met1141Leu) n.3568A>T c.2614A>T (p.Met872Leu) c.3001A>T (p.Met1001Leu) c.2365A>T (p.Met789Leu) c.-575A>T (n.-575A>T) | |
5 | g.177211820_177211821delinsAT | CA1603479053 | NSD1 | c.2548_2549delinsAT (p.Met850=) n.612+7528_612+7529delinsAT n.3004_3005delinsAT c.3112_3113delinsAT (p.Met1038=) n.2818_2819delinsAT c.3421_3422delinsAT (p.Met1141=) n.3568_3569delinsAT c.2614_2615delinsAT (p.Met872=) c.3001_3002delinsAT (p.Met1001=) c.2365_2366delinsAT (p.Met789=) c.-575_-574delinsAT (n.-575_-574delinsAT) | |
5 | g.177211821del | CA658655929 | NSD1 | c.2549del (p.Met850ArgfsTer11) n.612+7529del n.3005del c.3113del (p.Met1038ArgfsTer11) n.2819del c.3422del (p.Met1141ArgfsTer11) n.3569del c.2615del (p.Met872ArgfsTer11) c.3002del (p.Met1001ArgfsTer11) c.2366del (p.Met789ArgfsTer11) c.-574del (n.-574del) | ClinVar dbSNP |
5 | g.177211821T>A | CA362324495 | NSD1 | c.2549T>A (p.Met850Lys) n.612+7529T>A n.3005T>A c.3113T>A (p.Met1038Lys) n.2819T>A c.3422T>A (p.Met1141Lys) n.3569T>A c.2615T>A (p.Met872Lys) c.3002T>A (p.Met1001Lys) c.2366T>A (p.Met789Lys) c.-574T>A (n.-574T>A) | |
5 | g.177211821T>C | CA362324497 | NSD1 | c.2549T>C (p.Met850Thr) n.612+7529T>C n.3005T>C c.3113T>C (p.Met1038Thr) n.2819T>C c.3422T>C (p.Met1141Thr) n.3569T>C c.2615T>C (p.Met872Thr) c.3002T>C (p.Met1001Thr) c.2366T>C (p.Met789Thr) c.-574T>C (n.-574T>C) | dbSNP gnomAD v4 |
5 | g.177211821T>G | CA3577433 | NSD1 | c.2549T>G (p.Met850Arg) n.612+7529T>G n.3005T>G c.3113T>G (p.Met1038Arg) n.2819T>G c.3422T>G (p.Met1141Arg) n.3569T>G c.2615T>G (p.Met872Arg) c.3002T>G (p.Met1001Arg) c.2366T>G (p.Met789Arg) c.-574T>G (n.-574T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211821T= | CA1603479061 | NSD1 | c.2549T= (p.Met850=) n.612+7529T= n.3005T= c.3113T= (p.Met1038=) n.2819T= c.3422T= (p.Met1141=) n.3569T= c.2615T= (p.Met872=) c.3002T= (p.Met1001=) c.2366T= (p.Met789=) c.-574T= (n.-574T=) | |
5 | g.177211822G>A | CA362324504 | NSD1 | c.2550G>A (p.Met850Ile) n.612+7530G>A n.3006G>A c.3114G>A (p.Met1038Ile) n.2820G>A c.3423G>A (p.Met1141Ile) n.3570G>A c.2616G>A (p.Met872Ile) c.3003G>A (p.Met1001Ile) c.2367G>A (p.Met789Ile) c.-573G>A (n.-573G>A) | |
5 | g.177211822G>C | CA362324507 | NSD1 | c.2550G>C (p.Met850Ile) n.612+7530G>C n.3006G>C c.3114G>C (p.Met1038Ile) n.2820G>C c.3423G>C (p.Met1141Ile) n.3570G>C c.2616G>C (p.Met872Ile) c.3003G>C (p.Met1001Ile) c.2367G>C (p.Met789Ile) c.-573G>C (n.-573G>C) | gnomAD v4 |
5 | g.177211822G= | CA1603479063 | NSD1 | c.2550G= (p.Met850=) n.612+7530G= n.3006G= c.3114G= (p.Met1038=) n.2820G= c.3423G= (p.Met1141=) n.3570G= c.2616G= (p.Met872=) c.3003G= (p.Met1001=) c.2367G= (p.Met789=) c.-573G= (n.-573G=) | |
5 | g.177211822G>T | CA362324509 | NSD1 | c.2550G>T (p.Met850Ile) n.612+7530G>T n.3006G>T c.3114G>T (p.Met1038Ile) n.2820G>T c.3423G>T (p.Met1141Ile) n.3570G>T c.2616G>T (p.Met872Ile) c.3003G>T (p.Met1001Ile) c.2367G>T (p.Met789Ile) c.-573G>T (n.-573G>T) | |
5 | g.177211822_177211823insCC | CA16618172 | NSD1 | c.2550_2551insCC (p.Asn851ProfsTer11) n.612+7530_612+7531insCC n.3006_3007insCC c.3114_3115insCC (p.Asn1039ProfsTer11) n.2820_2821insCC c.3423_3424insCC (p.Asn1142ProfsTer11) n.3570_3571insCC c.2616_2617insCC (p.Asn873ProfsTer11) c.3003_3004insCC (p.Asn1002ProfsTer11) c.2367_2368insCC (p.Asn790ProfsTer11) c.-573_-572insCC (n.-573_-572insCC) | ClinVar dbSNP |
5 | g.177211823A>C | CA362324514 | NSD1 | c.2551A>C (p.Asn851His) n.612+7531A>C n.3007A>C c.3115A>C (p.Asn1039His) n.2821A>C c.3424A>C (p.Asn1142His) n.3571A>C c.2617A>C (p.Asn873His) c.3004A>C (p.Asn1002His) c.2368A>C (p.Asn790His) c.-572A>C (n.-572A>C) | |
5 | g.177211823A>G | CA362324515 | NSD1 | c.2551A>G (p.Asn851Asp) n.612+7531A>G n.3007A>G c.3115A>G (p.Asn1039Asp) n.2821A>G c.3424A>G (p.Asn1142Asp) n.3571A>G c.2617A>G (p.Asn873Asp) c.3004A>G (p.Asn1002Asp) c.2368A>G (p.Asn790Asp) c.-572A>G (n.-572A>G) | |
5 | g.177211823A>T | CA362324518 | NSD1 | c.2551A>T (p.Asn851Tyr) n.612+7531A>T n.3007A>T c.3115A>T (p.Asn1039Tyr) n.2821A>T c.3424A>T (p.Asn1142Tyr) n.3571A>T c.2617A>T (p.Asn873Tyr) c.3004A>T (p.Asn1002Tyr) c.2368A>T (p.Asn790Tyr) c.-572A>T (n.-572A>T) | |
5 | g.177211824A= | CA1603479070 | NSD1 | c.2552A= (p.Asn851=) n.612+7532A= n.3008A= c.3116A= (p.Asn1039=) n.2822A= c.3425A= (p.Asn1142=) n.3572A= c.2618A= (p.Asn873=) c.3005A= (p.Asn1002=) c.2369A= (p.Asn790=) c.-571A= (n.-571A=) | |
5 | g.177211824A>C | CA362324520 | NSD1 | c.2552A>C (p.Asn851Thr) n.612+7532A>C n.3008A>C c.3116A>C (p.Asn1039Thr) n.2822A>C c.3425A>C (p.Asn1142Thr) n.3572A>C c.2618A>C (p.Asn873Thr) c.3005A>C (p.Asn1002Thr) c.2369A>C (p.Asn790Thr) c.-571A>C (n.-571A>C) | |
5 | g.177211824A>G | CA362324523 | NSD1 | c.2552A>G (p.Asn851Ser) n.612+7532A>G n.3008A>G c.3116A>G (p.Asn1039Ser) n.2822A>G c.3425A>G (p.Asn1142Ser) n.3572A>G c.2618A>G (p.Asn873Ser) c.3005A>G (p.Asn1002Ser) c.2369A>G (p.Asn790Ser) c.-571A>G (n.-571A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211824A>T | CA362324525 | NSD1 | c.2552A>T (p.Asn851Ile) n.612+7532A>T n.3008A>T c.3116A>T (p.Asn1039Ile) n.2822A>T c.3425A>T (p.Asn1142Ile) n.3572A>T c.2618A>T (p.Asn873Ile) c.3005A>T (p.Asn1002Ile) c.2369A>T (p.Asn790Ile) c.-571A>T (n.-571A>T) | |
5 | g.177211825C>A | CA362324531 | NSD1 | c.2553C>A (p.Asn851Lys) n.612+7533C>A n.3009C>A c.3117C>A (p.Asn1039Lys) n.2823C>A c.3426C>A (p.Asn1142Lys) n.3573C>A c.2619C>A (p.Asn873Lys) c.3006C>A (p.Asn1002Lys) c.2370C>A (p.Asn790Lys) c.-570C>A (n.-570C>A) | |
5 | g.177211825C= | CA1603479073 | NSD1 | c.2553C= (p.Asn851=) n.612+7533C= n.3009C= c.3117C= (p.Asn1039=) n.2823C= c.3426C= (p.Asn1142=) n.3573C= c.2619C= (p.Asn873=) c.3006C= (p.Asn1002=) c.2370C= (p.Asn790=) c.-570C= (n.-570C=) | |
5 | g.177211825C>G | CA362324527 | NSD1 | c.2553C>G (p.Asn851Lys) n.612+7533C>G n.3009C>G c.3117C>G (p.Asn1039Lys) n.2823C>G c.3426C>G (p.Asn1142Lys) n.3573C>G c.2619C>G (p.Asn873Lys) c.3006C>G (p.Asn1002Lys) c.2370C>G (p.Asn790Lys) c.-570C>G (n.-570C>G) | gnomAD v4 |
5 | g.177211825C>T | CA447960982 | NSD1 | c.2553C>T (p.Asn851=) n.612+7533C>T n.3009C>T c.3117C>T (p.Asn1039=) n.2823C>T c.3426C>T (p.Asn1142=) n.3573C>T c.2619C>T (p.Asn873=) c.3006C>T (p.Asn1002=) c.2370C>T (p.Asn790=) c.-570C>T (n.-570C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211826A>C | CA362324535 | NSD1 | c.2554A>C (p.Ser852Arg) n.612+7534A>C n.3010A>C c.3118A>C (p.Ser1040Arg) n.2824A>C c.3427A>C (p.Ser1143Arg) n.3574A>C c.2620A>C (p.Ser874Arg) c.3007A>C (p.Ser1003Arg) c.2371A>C (p.Ser791Arg) c.-569A>C (n.-569A>C) | |
5 | g.177211826A>G | CA362324538 | NSD1 | c.2554A>G (p.Ser852Gly) n.612+7534A>G n.3010A>G c.3118A>G (p.Ser1040Gly) n.2824A>G c.3427A>G (p.Ser1143Gly) n.3574A>G c.2620A>G (p.Ser874Gly) c.3007A>G (p.Ser1003Gly) c.2371A>G (p.Ser791Gly) c.-569A>G (n.-569A>G) | |
5 | g.177211826A>T | CA362324537 | NSD1 | c.2554A>T (p.Ser852Cys) n.612+7534A>T n.3010A>T c.3118A>T (p.Ser1040Cys) n.2824A>T c.3427A>T (p.Ser1143Cys) n.3574A>T c.2620A>T (p.Ser874Cys) c.3007A>T (p.Ser1003Cys) c.2371A>T (p.Ser791Cys) c.-569A>T (n.-569A>T) | |
5 | g.177211827G>A | CA362324542 | NSD1 | c.2555G>A (p.Ser852Asn) n.612+7535G>A n.3011G>A c.3119G>A (p.Ser1040Asn) n.2825G>A c.3428G>A (p.Ser1143Asn) n.3575G>A c.2621G>A (p.Ser874Asn) c.3008G>A (p.Ser1003Asn) c.2372G>A (p.Ser791Asn) c.-568G>A (n.-568G>A) | dbSNP |
5 | g.177211827G>C | CA362324545 | NSD1 | c.2555G>C (p.Ser852Thr) n.612+7535G>C n.3011G>C c.3119G>C (p.Ser1040Thr) n.2825G>C c.3428G>C (p.Ser1143Thr) n.3575G>C c.2621G>C (p.Ser874Thr) c.3008G>C (p.Ser1003Thr) c.2372G>C (p.Ser791Thr) c.-568G>C (n.-568G>C) | |
5 | g.177211827G>T | CA362324548 | NSD1 | c.2555G>T (p.Ser852Ile) n.612+7535G>T n.3011G>T c.3119G>T (p.Ser1040Ile) n.2825G>T c.3428G>T (p.Ser1143Ile) n.3575G>T c.2621G>T (p.Ser874Ile) c.3008G>T (p.Ser1003Ile) c.2372G>T (p.Ser791Ile) c.-568G>T (n.-568G>T) | |
5 | g.177211828T>A | CA362324552 | NSD1 | c.2556T>A (p.Ser852Arg) n.612+7536T>A n.3012T>A c.3120T>A (p.Ser1040Arg) n.2826T>A c.3429T>A (p.Ser1143Arg) n.3576T>A c.2622T>A (p.Ser874Arg) c.3009T>A (p.Ser1003Arg) c.2373T>A (p.Ser791Arg) c.-567T>A (n.-567T>A) | |
5 | g.177211828T>C | CA447960983 | NSD1 | c.2556T>C (p.Ser852=) n.612+7536T>C n.3012T>C c.3120T>C (p.Ser1040=) n.2826T>C c.3429T>C (p.Ser1143=) n.3576T>C c.2622T>C (p.Ser874=) c.3009T>C (p.Ser1003=) c.2373T>C (p.Ser791=) c.-567T>C (n.-567T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211828T>G | CA362324554 | NSD1 | c.2556T>G (p.Ser852Arg) n.612+7536T>G n.3012T>G c.3120T>G (p.Ser1040Arg) n.2826T>G c.3429T>G (p.Ser1143Arg) n.3576T>G c.2622T>G (p.Ser874Arg) c.3009T>G (p.Ser1003Arg) c.2373T>G (p.Ser791Arg) c.-567T>G (n.-567T>G) | gnomAD v4 |
5 | g.177211828T= | CA1603479075 | NSD1 | c.2556T= (p.Ser852=) n.612+7536T= n.3012T= c.3120T= (p.Ser1040=) n.2826T= c.3429T= (p.Ser1143=) n.3576T= c.2622T= (p.Ser874=) c.3009T= (p.Ser1003=) c.2373T= (p.Ser791=) c.-567T= (n.-567T=) | |
5 | g.177211829G>A | CA362324559 | NSD1 | c.2557G>A (p.Glu853Lys) n.612+7537G>A n.3013G>A c.3121G>A (p.Glu1041Lys) n.2827G>A c.3430G>A (p.Glu1144Lys) n.3577G>A c.2623G>A (p.Glu875Lys) c.3010G>A (p.Glu1004Lys) c.2374G>A (p.Glu792Lys) c.-566G>A (n.-566G>A) | dbSNP COSMIC COSMIC |
5 | g.177211829G>C | CA362324561 | NSD1 | c.2557G>C (p.Glu853Gln) n.612+7537G>C n.3013G>C c.3121G>C (p.Glu1041Gln) n.2827G>C c.3430G>C (p.Glu1144Gln) n.3577G>C c.2623G>C (p.Glu875Gln) c.3010G>C (p.Glu1004Gln) c.2374G>C (p.Glu792Gln) c.-566G>C (n.-566G>C) | |
5 | g.177211829G>T | CA362324565 | NSD1 | c.2557G>T (p.Glu853Ter) n.612+7537G>T n.3013G>T c.3121G>T (p.Glu1041Ter) n.2827G>T c.3430G>T (p.Glu1144Ter) n.3577G>T c.2623G>T (p.Glu875Ter) c.3010G>T (p.Glu1004Ter) c.2374G>T (p.Glu792Ter) c.-566G>T (n.-566G>T) | |
5 | g.177211830A>C | CA362324569 | NSD1 | c.2558A>C (p.Glu853Ala) n.612+7538A>C n.3014A>C c.3122A>C (p.Glu1041Ala) n.2828A>C c.3431A>C (p.Glu1144Ala) n.3578A>C c.2624A>C (p.Glu875Ala) c.3011A>C (p.Glu1004Ala) c.2375A>C (p.Glu792Ala) c.-565A>C (n.-565A>C) | |
5 | g.177211830A>G | CA362324571 | NSD1 | c.2558A>G (p.Glu853Gly) n.612+7538A>G n.3014A>G c.3122A>G (p.Glu1041Gly) n.2828A>G c.3431A>G (p.Glu1144Gly) n.3578A>G c.2624A>G (p.Glu875Gly) c.3011A>G (p.Glu1004Gly) c.2375A>G (p.Glu792Gly) c.-565A>G (n.-565A>G) | |
5 | g.177211830A>T | CA362324576 | NSD1 | c.2558A>T (p.Glu853Val) n.612+7538A>T n.3014A>T c.3122A>T (p.Glu1041Val) n.2828A>T c.3431A>T (p.Glu1144Val) n.3578A>T c.2624A>T (p.Glu875Val) c.3011A>T (p.Glu1004Val) c.2375A>T (p.Glu792Val) c.-565A>T (n.-565A>T) | |
5 | g.177211831G>A | CA447960986 | NSD1 | c.2559G>A (p.Glu853=) n.612+7539G>A n.3015G>A c.3123G>A (p.Glu1041=) n.2829G>A c.3432G>A (p.Glu1144=) n.3579G>A c.2625G>A (p.Glu875=) c.3012G>A (p.Glu1004=) c.2376G>A (p.Glu792=) c.-564G>A (n.-564G>A) | dbSNP |
5 | g.177211831G>C | CA362324580 | NSD1 | c.2559G>C (p.Glu853Asp) n.612+7539G>C n.3015G>C c.3123G>C (p.Glu1041Asp) n.2829G>C c.3432G>C (p.Glu1144Asp) n.3579G>C c.2625G>C (p.Glu875Asp) c.3012G>C (p.Glu1004Asp) c.2376G>C (p.Glu792Asp) c.-564G>C (n.-564G>C) | |
5 | g.177211831G>T | CA362324582 | NSD1 | c.2559G>T (p.Glu853Asp) n.612+7539G>T n.3015G>T c.3123G>T (p.Glu1041Asp) n.2829G>T c.3432G>T (p.Glu1144Asp) n.3579G>T c.2625G>T (p.Glu875Asp) c.3012G>T (p.Glu1004Asp) c.2376G>T (p.Glu792Asp) c.-564G>T (n.-564G>T) | |
5 | g.177211832A>C | CA362324586 | NSD1 | c.2560A>C (p.Asn854His) n.612+7540A>C n.3016A>C c.3124A>C (p.Asn1042His) n.2830A>C c.3433A>C (p.Asn1145His) n.3580A>C c.2626A>C (p.Asn876His) c.3013A>C (p.Asn1005His) c.2377A>C (p.Asn793His) c.-563A>C (n.-563A>C) | gnomAD v4 |
5 | g.177211832A>G | CA362324591 | NSD1 | c.2560A>G (p.Asn854Asp) n.612+7540A>G n.3016A>G c.3124A>G (p.Asn1042Asp) n.2830A>G c.3433A>G (p.Asn1145Asp) n.3580A>G c.2626A>G (p.Asn876Asp) c.3013A>G (p.Asn1005Asp) c.2377A>G (p.Asn793Asp) c.-563A>G (n.-563A>G) | |
5 | g.177211832A>T | CA362324588 | NSD1 | c.2560A>T (p.Asn854Tyr) n.612+7540A>T n.3016A>T c.3124A>T (p.Asn1042Tyr) n.2830A>T c.3433A>T (p.Asn1145Tyr) n.3580A>T c.2626A>T (p.Asn876Tyr) c.3013A>T (p.Asn1005Tyr) c.2377A>T (p.Asn793Tyr) c.-563A>T (n.-563A>T) | |
5 | g.177211833A= | CA1603479081 | NSD1 | c.2561A= (p.Asn854=) n.612+7541A= n.3017A= c.3125A= (p.Asn1042=) n.2831A= c.3434A= (p.Asn1145=) n.3581A= c.2627A= (p.Asn876=) c.3014A= (p.Asn1005=) c.2378A= (p.Asn793=) c.-562A= (n.-562A=) | |
5 | g.177211833A>C | CA362324594 | NSD1 | c.2561A>C (p.Asn854Thr) n.612+7541A>C n.3017A>C c.3125A>C (p.Asn1042Thr) n.2831A>C c.3434A>C (p.Asn1145Thr) n.3581A>C c.2627A>C (p.Asn876Thr) c.3014A>C (p.Asn1005Thr) c.2378A>C (p.Asn793Thr) c.-562A>C (n.-562A>C) | |
5 | g.177211833A>G | CA362324595 | NSD1 | c.2561A>G (p.Asn854Ser) n.612+7541A>G n.3017A>G c.3125A>G (p.Asn1042Ser) n.2831A>G c.3434A>G (p.Asn1145Ser) n.3581A>G c.2627A>G (p.Asn876Ser) c.3014A>G (p.Asn1005Ser) c.2378A>G (p.Asn793Ser) c.-562A>G (n.-562A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211833A>T | CA362324596 | NSD1 | c.2561A>T (p.Asn854Ile) n.612+7541A>T n.3017A>T c.3125A>T (p.Asn1042Ile) n.2831A>T c.3434A>T (p.Asn1145Ile) n.3581A>T c.2627A>T (p.Asn876Ile) c.3014A>T (p.Asn1005Ile) c.2378A>T (p.Asn793Ile) c.-562A>T (n.-562A>T) | gnomAD v4 |
5 | g.177211834T>A | CA362324597 | NSD1 | c.2562T>A (p.Asn854Lys) n.612+7542T>A n.3018T>A c.3126T>A (p.Asn1042Lys) n.2832T>A c.3435T>A (p.Asn1145Lys) n.3582T>A c.2628T>A (p.Asn876Lys) c.3015T>A (p.Asn1005Lys) c.2379T>A (p.Asn793Lys) c.-561T>A (n.-561T>A) | gnomAD v4 |
5 | g.177211834T>C | CA447960988 | NSD1 | c.2562T>C (p.Asn854=) n.612+7542T>C n.3018T>C c.3126T>C (p.Asn1042=) n.2832T>C c.3435T>C (p.Asn1145=) n.3582T>C c.2628T>C (p.Asn876=) c.3015T>C (p.Asn1005=) c.2379T>C (p.Asn793=) c.-561T>C (n.-561T>C) | gnomAD v4 |
5 | g.177211834T>G | CA362324598 | NSD1 | c.2562T>G (p.Asn854Lys) n.612+7542T>G n.3018T>G c.3126T>G (p.Asn1042Lys) n.2832T>G c.3435T>G (p.Asn1145Lys) n.3582T>G c.2628T>G (p.Asn876Lys) c.3015T>G (p.Asn1005Lys) c.2379T>G (p.Asn793Lys) c.-561T>G (n.-561T>G) | |
5 | g.177211835G>A | CA362324600 | NSD1 | c.2563G>A (p.Asp855Asn) n.612+7543G>A n.3019G>A c.3127G>A (p.Asp1043Asn) n.2833G>A c.3436G>A (p.Asp1146Asn) n.3583G>A c.2629G>A (p.Asp877Asn) c.3016G>A (p.Asp1006Asn) c.2380G>A (p.Asp794Asn) c.-560G>A (n.-560G>A) | dbSNP |
5 | g.177211835G>C | CA362324603 | NSD1 | c.2563G>C (p.Asp855His) n.612+7543G>C n.3019G>C c.3127G>C (p.Asp1043His) n.2833G>C c.3436G>C (p.Asp1146His) n.3583G>C c.2629G>C (p.Asp877His) c.3016G>C (p.Asp1006His) c.2380G>C (p.Asp794His) c.-560G>C (n.-560G>C) | dbSNP |
5 | g.177211835G>T | CA362324605 | NSD1 | c.2563G>T (p.Asp855Tyr) n.612+7543G>T n.3019G>T c.3127G>T (p.Asp1043Tyr) n.2833G>T c.3436G>T (p.Asp1146Tyr) n.3583G>T c.2629G>T (p.Asp877Tyr) c.3016G>T (p.Asp1006Tyr) c.2380G>T (p.Asp794Tyr) c.-560G>T (n.-560G>T) | |
5 | g.177211836A= | CA1603479085 | NSD1 | c.2564A= (p.Asp855=) n.612+7544A= n.3020A= c.3128A= (p.Asp1043=) n.2834A= c.3437A= (p.Asp1146=) n.3584A= c.2630A= (p.Asp877=) c.3017A= (p.Asp1006=) c.2381A= (p.Asp794=) c.-559A= (n.-559A=) | |
5 | g.177211836A>C | CA362324610 | NSD1 | c.2564A>C (p.Asp855Ala) n.612+7544A>C n.3020A>C c.3128A>C (p.Asp1043Ala) n.2834A>C c.3437A>C (p.Asp1146Ala) n.3584A>C c.2630A>C (p.Asp877Ala) c.3017A>C (p.Asp1006Ala) c.2381A>C (p.Asp794Ala) c.-559A>C (n.-559A>C) | |
5 | g.177211836A>G | CA362324611 | NSD1 | c.2564A>G (p.Asp855Gly) n.612+7544A>G n.3020A>G c.3128A>G (p.Asp1043Gly) n.2834A>G c.3437A>G (p.Asp1146Gly) n.3584A>G c.2630A>G (p.Asp877Gly) c.3017A>G (p.Asp1006Gly) c.2381A>G (p.Asp794Gly) c.-559A>G (n.-559A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211836A>T | CA362324613 | NSD1 | c.2564A>T (p.Asp855Val) n.612+7544A>T n.3020A>T c.3128A>T (p.Asp1043Val) n.2834A>T c.3437A>T (p.Asp1146Val) n.3584A>T c.2630A>T (p.Asp877Val) c.3017A>T (p.Asp1006Val) c.2381A>T (p.Asp794Val) c.-559A>T (n.-559A>T) | |
5 | g.177211837T>A | CA362324617 | NSD1 | c.2565T>A (p.Asp855Glu) n.612+7545T>A n.3021T>A c.3129T>A (p.Asp1043Glu) n.2835T>A c.3438T>A (p.Asp1146Glu) n.3585T>A c.2631T>A (p.Asp877Glu) c.3018T>A (p.Asp1006Glu) c.2382T>A (p.Asp794Glu) c.-558T>A (n.-558T>A) | |
5 | g.177211837T>C | CA447960989 | NSD1 | c.2565T>C (p.Asp855=) n.612+7545T>C n.3021T>C c.3129T>C (p.Asp1043=) n.2835T>C c.3438T>C (p.Asp1146=) n.3585T>C c.2631T>C (p.Asp877=) c.3018T>C (p.Asp1006=) c.2382T>C (p.Asp794=) c.-558T>C (n.-558T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211837T>G | CA362324619 | NSD1 | c.2565T>G (p.Asp855Glu) n.612+7545T>G n.3021T>G c.3129T>G (p.Asp1043Glu) n.2835T>G c.3438T>G (p.Asp1146Glu) n.3585T>G c.2631T>G (p.Asp877Glu) c.3018T>G (p.Asp1006Glu) c.2382T>G (p.Asp794Glu) c.-558T>G (n.-558T>G) | ClinVar dbSNP |
5 | g.177211837T= | CA1603479092 | NSD1 | c.2565T= (p.Asp855=) n.612+7545T= n.3021T= c.3129T= (p.Asp1043=) n.2835T= c.3438T= (p.Asp1146=) n.3585T= c.2631T= (p.Asp877=) c.3018T= (p.Asp1006=) c.2382T= (p.Asp794=) c.-558T= (n.-558T=) | |
5 | g.177211838G>A | CA3577434 | NSD1 | c.2566G>A (p.Glu856Lys) n.612+7546G>A n.3022G>A c.3130G>A (p.Glu1044Lys) n.2836G>A c.3439G>A (p.Glu1147Lys) n.3586G>A c.2632G>A (p.Glu878Lys) c.3019G>A (p.Glu1007Lys) c.2383G>A (p.Glu795Lys) c.-557G>A (n.-557G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
5 | g.177211838G>C | CA362324625 | NSD1 | c.2566G>C (p.Glu856Gln) n.612+7546G>C n.3022G>C c.3130G>C (p.Glu1044Gln) n.2836G>C c.3439G>C (p.Glu1147Gln) n.3586G>C c.2632G>C (p.Glu878Gln) c.3019G>C (p.Glu1007Gln) c.2383G>C (p.Glu795Gln) c.-557G>C (n.-557G>C) | |
5 | g.177211838G= | CA1603479098 | NSD1 | c.2566G= (p.Glu856=) n.612+7546G= n.3022G= c.3130G= (p.Glu1044=) n.2836G= c.3439G= (p.Glu1147=) n.3586G= c.2632G= (p.Glu878=) c.3019G= (p.Glu1007=) c.2383G= (p.Glu795=) c.-557G= (n.-557G=) | |
5 | g.177211838G>T | CA362324627 | NSD1 | c.2566G>T (p.Glu856Ter) n.612+7546G>T n.3022G>T c.3130G>T (p.Glu1044Ter) n.2836G>T c.3439G>T (p.Glu1147Ter) n.3586G>T c.2632G>T (p.Glu878Ter) c.3019G>T (p.Glu1007Ter) c.2383G>T (p.Glu795Ter) c.-557G>T (n.-557G>T) | |
5 | g.177211839A>C | CA362324631 | NSD1 | c.2567A>C (p.Glu856Ala) n.612+7547A>C n.3023A>C c.3131A>C (p.Glu1044Ala) n.2837A>C c.3440A>C (p.Glu1147Ala) n.3587A>C c.2633A>C (p.Glu878Ala) c.3020A>C (p.Glu1007Ala) c.2384A>C (p.Glu795Ala) c.-556A>C (n.-556A>C) | |
5 | g.177211839A>G | CA362324633 | NSD1 | c.2567A>G (p.Glu856Gly) n.612+7547A>G n.3023A>G c.3131A>G (p.Glu1044Gly) n.2837A>G c.3440A>G (p.Glu1147Gly) n.3587A>G c.2633A>G (p.Glu878Gly) c.3020A>G (p.Glu1007Gly) c.2384A>G (p.Glu795Gly) c.-556A>G (n.-556A>G) | ClinVar |
5 | g.177211839A>T | CA362324635 | NSD1 | c.2567A>T (p.Glu856Val) n.612+7547A>T n.3023A>T c.3131A>T (p.Glu1044Val) n.2837A>T c.3440A>T (p.Glu1147Val) n.3587A>T c.2633A>T (p.Glu878Val) c.3020A>T (p.Glu1007Val) c.2384A>T (p.Glu795Val) c.-556A>T (n.-556A>T) | |
5 | g.177211840A>C | CA362324639 | NSD1 | c.2568A>C (p.Glu856Asp) n.612+7548A>C n.3024A>C c.3132A>C (p.Glu1044Asp) n.2838A>C c.3441A>C (p.Glu1147Asp) n.3588A>C c.2634A>C (p.Glu878Asp) c.3021A>C (p.Glu1007Asp) c.2385A>C (p.Glu795Asp) c.-555A>C (n.-555A>C) | |
5 | g.177211840A>G | CA447960993 | NSD1 | c.2568A>G (p.Glu856=) n.612+7548A>G n.3024A>G c.3132A>G (p.Glu1044=) n.2838A>G c.3441A>G (p.Glu1147=) n.3588A>G c.2634A>G (p.Glu878=) c.3021A>G (p.Glu1007=) c.2385A>G (p.Glu795=) c.-555A>G (n.-555A>G) | |
5 | g.177211840A>T | CA362324647 | NSD1 | c.2568A>T (p.Glu856Asp) n.612+7548A>T n.3024A>T c.3132A>T (p.Glu1044Asp) n.2838A>T c.3441A>T (p.Glu1147Asp) n.3588A>T c.2634A>T (p.Glu878Asp) c.3021A>T (p.Glu1007Asp) c.2385A>T (p.Glu795Asp) c.-555A>T (n.-555A>T) | |
5 | g.177211841C>A | CA362324650 | NSD1 | c.2569C>A (p.Leu857Ile) n.612+7549C>A n.3025C>A c.3133C>A (p.Leu1045Ile) n.2839C>A c.3442C>A (p.Leu1148Ile) n.3589C>A c.2635C>A (p.Leu879Ile) c.3022C>A (p.Leu1008Ile) c.2386C>A (p.Leu796Ile) c.-554C>A (n.-554C>A) | |
5 | g.177211841C= | CA1603479103 | NSD1 | c.2569C= (p.Leu857=) n.612+7549C= n.3025C= c.3133C= (p.Leu1045=) n.2839C= c.3442C= (p.Leu1148=) n.3589C= c.2635C= (p.Leu879=) c.3022C= (p.Leu1008=) c.2386C= (p.Leu796=) c.-554C= (n.-554C=) | |
5 | g.177211841C>G | CA362324652 | NSD1 | c.2569C>G (p.Leu857Val) n.612+7549C>G n.3025C>G c.3133C>G (p.Leu1045Val) n.2839C>G c.3442C>G (p.Leu1148Val) n.3589C>G c.2635C>G (p.Leu879Val) c.3022C>G (p.Leu1008Val) c.2386C>G (p.Leu796Val) c.-554C>G (n.-554C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211841C>T | CA362324653 | NSD1 | c.2569C>T (p.Leu857Phe) n.612+7549C>T n.3025C>T c.3133C>T (p.Leu1045Phe) n.2839C>T c.3442C>T (p.Leu1148Phe) n.3589C>T c.2635C>T (p.Leu879Phe) c.3022C>T (p.Leu1008Phe) c.2386C>T (p.Leu796Phe) c.-554C>T (n.-554C>T) | dbSNP gnomAD v4 |
5 | g.177211841dup | CA2695202839 | NSD1 | c.2569dup (p.Leu857ProfsTer10) n.612+7549dup n.3025dup c.3133dup (p.Leu1045ProfsTer10) n.2839dup c.3442dup (p.Leu1148ProfsTer10) n.3589dup c.2635dup (p.Leu879ProfsTer10) c.3022dup (p.Leu1008ProfsTer10) c.2386dup (p.Leu796ProfsTer10) c.-554dup (n.-554dup) | |
5 | g.177211842T>A | CA362324659 | NSD1 | c.2570T>A (p.Leu857His) n.612+7550T>A n.3026T>A c.3134T>A (p.Leu1045His) n.2840T>A c.3443T>A (p.Leu1148His) n.3590T>A c.2636T>A (p.Leu879His) c.3023T>A (p.Leu1008His) c.2387T>A (p.Leu796His) c.-553T>A (n.-553T>A) | dbSNP |
5 | g.177211842T>C | CA362324660 | NSD1 | c.2570T>C (p.Leu857Pro) n.612+7550T>C n.3026T>C c.3134T>C (p.Leu1045Pro) n.2840T>C c.3443T>C (p.Leu1148Pro) n.3590T>C c.2636T>C (p.Leu879Pro) c.3023T>C (p.Leu1008Pro) c.2387T>C (p.Leu796Pro) c.-553T>C (n.-553T>C) | |
5 | g.177211842T>G | CA362324663 | NSD1 | c.2570T>G (p.Leu857Arg) n.612+7550T>G n.3026T>G c.3134T>G (p.Leu1045Arg) n.2840T>G c.3443T>G (p.Leu1148Arg) n.3590T>G c.2636T>G (p.Leu879Arg) c.3023T>G (p.Leu1008Arg) c.2387T>G (p.Leu796Arg) c.-553T>G (n.-553T>G) | |
5 | g.177211843C>A | CA447960994 | NSD1 | c.2571C>A (p.Leu857=) n.612+7551C>A n.3027C>A c.3135C>A (p.Leu1045=) n.2841C>A c.3444C>A (p.Leu1148=) n.3591C>A c.2637C>A (p.Leu879=) c.3024C>A (p.Leu1008=) c.2388C>A (p.Leu796=) c.-552C>A (n.-552C>A) | |
5 | g.177211843C= | CA1603479106 | NSD1 | c.2571C= (p.Leu857=) n.612+7551C= n.3027C= c.3135C= (p.Leu1045=) n.2841C= c.3444C= (p.Leu1148=) n.3591C= c.2637C= (p.Leu879=) c.3024C= (p.Leu1008=) c.2388C= (p.Leu796=) c.-552C= (n.-552C=) | |
5 | g.177211843C>G | CA3577435 | NSD1 | c.2571C>G (p.Leu857=) n.612+7551C>G n.3027C>G c.3135C>G (p.Leu1045=) n.2841C>G c.3444C>G (p.Leu1148=) n.3591C>G c.2637C>G (p.Leu879=) c.3024C>G (p.Leu1008=) c.2388C>G (p.Leu796=) c.-552C>G (n.-552C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211843C>T | CA447960995 | NSD1 | c.2571C>T (p.Leu857=) n.612+7551C>T n.3027C>T c.3135C>T (p.Leu1045=) n.2841C>T c.3444C>T (p.Leu1148=) n.3591C>T c.2637C>T (p.Leu879=) c.3024C>T (p.Leu1008=) c.2388C>T (p.Leu796=) c.-552C>T (n.-552C>T) | |
5 | g.177211844A>C | CA362324669 | NSD1 | c.2572A>C (p.Asn858His) n.612+7552A>C n.3028A>C c.3136A>C (p.Asn1046His) n.2842A>C c.3445A>C (p.Asn1149His) n.3592A>C c.2638A>C (p.Asn880His) c.3025A>C (p.Asn1009His) c.2389A>C (p.Asn797His) c.-551A>C (n.-551A>C) | gnomAD v4 |
5 | g.177211844A>G | CA362324672 | NSD1 | c.2572A>G (p.Asn858Asp) n.612+7552A>G n.3028A>G c.3136A>G (p.Asn1046Asp) n.2842A>G c.3445A>G (p.Asn1149Asp) n.3592A>G c.2638A>G (p.Asn880Asp) c.3025A>G (p.Asn1009Asp) c.2389A>G (p.Asn797Asp) c.-551A>G (n.-551A>G) | |
5 | g.177211844A>T | CA362324674 | NSD1 | c.2572A>T (p.Asn858Tyr) n.612+7552A>T n.3028A>T c.3136A>T (p.Asn1046Tyr) n.2842A>T c.3445A>T (p.Asn1149Tyr) n.3592A>T c.2638A>T (p.Asn880Tyr) c.3025A>T (p.Asn1009Tyr) c.2389A>T (p.Asn797Tyr) c.-551A>T (n.-551A>T) | |
5 | g.177211845A= | CA1603479115 | NSD1 | c.2573A= (p.Asn858=) n.612+7553A= n.3029A= c.3137A= (p.Asn1046=) n.2843A= c.3446A= (p.Asn1149=) n.3593A= c.2639A= (p.Asn880=) c.3026A= (p.Asn1009=) c.2390A= (p.Asn797=) c.-550A= (n.-550A=) | |
5 | g.177211845A>C | CA3577437 | NSD1 | c.2573A>C (p.Asn858Thr) n.612+7553A>C n.3029A>C c.3137A>C (p.Asn1046Thr) n.2843A>C c.3446A>C (p.Asn1149Thr) n.3593A>C c.2639A>C (p.Asn880Thr) c.3026A>C (p.Asn1009Thr) c.2390A>C (p.Asn797Thr) c.-550A>C (n.-550A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211845A>G | CA3577436 | NSD1 | c.2573A>G (p.Asn858Ser) n.612+7553A>G n.3029A>G c.3137A>G (p.Asn1046Ser) n.2843A>G c.3446A>G (p.Asn1149Ser) n.3593A>G c.2639A>G (p.Asn880Ser) c.3026A>G (p.Asn1009Ser) c.2390A>G (p.Asn797Ser) c.-550A>G (n.-550A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211845A>T | CA362324680 | NSD1 | c.2573A>T (p.Asn858Ile) n.612+7553A>T n.3029A>T c.3137A>T (p.Asn1046Ile) n.2843A>T c.3446A>T (p.Asn1149Ile) n.3593A>T c.2639A>T (p.Asn880Ile) c.3026A>T (p.Asn1009Ile) c.2390A>T (p.Asn797Ile) c.-550A>T (n.-550A>T) | |
5 | g.177211846T>A | CA362324684 | NSD1 | c.2574T>A (p.Asn858Lys) n.612+7554T>A n.3030T>A c.3138T>A (p.Asn1046Lys) n.2844T>A c.3447T>A (p.Asn1149Lys) n.3594T>A c.2640T>A (p.Asn880Lys) c.3027T>A (p.Asn1009Lys) c.2391T>A (p.Asn797Lys) c.-549T>A (n.-549T>A) | |
5 | g.177211846T>C | CA447960996 | NSD1 | c.2574T>C (p.Asn858=) n.612+7554T>C n.3030T>C c.3138T>C (p.Asn1046=) n.2844T>C c.3447T>C (p.Asn1149=) n.3594T>C c.2640T>C (p.Asn880=) c.3027T>C (p.Asn1009=) c.2391T>C (p.Asn797=) c.-549T>C (n.-549T>C) | |
5 | g.177211846T>G | CA362324686 | NSD1 | c.2574T>G (p.Asn858Lys) n.612+7554T>G n.3030T>G c.3138T>G (p.Asn1046Lys) n.2844T>G c.3447T>G (p.Asn1149Lys) n.3594T>G c.2640T>G (p.Asn880Lys) c.3027T>G (p.Asn1009Lys) c.2391T>G (p.Asn797Lys) c.-549T>G (n.-549T>G) | |
5 | g.177211847G>A | CA3577438 | NSD1 | c.2575G>A (p.Gly859Ser) n.612+7555G>A n.3031G>A c.3139G>A (p.Gly1047Ser) n.2845G>A c.3448G>A (p.Gly1150Ser) n.3595G>A c.2641G>A (p.Gly881Ser) c.3028G>A (p.Gly1010Ser) c.2392G>A (p.Gly798Ser) c.-548G>A (n.-548G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211847G>C | CA362324692 | NSD1 | c.2575G>C (p.Gly859Arg) n.612+7555G>C n.3031G>C c.3139G>C (p.Gly1047Arg) n.2845G>C c.3448G>C (p.Gly1150Arg) n.3595G>C c.2641G>C (p.Gly881Arg) c.3028G>C (p.Gly1010Arg) c.2392G>C (p.Gly798Arg) c.-548G>C (n.-548G>C) | |
5 | g.177211847G= | CA1603479121 | NSD1 | c.2575G= (p.Gly859=) n.612+7555G= n.3031G= c.3139G= (p.Gly1047=) n.2845G= c.3448G= (p.Gly1150=) n.3595G= c.2641G= (p.Gly881=) c.3028G= (p.Gly1010=) c.2392G= (p.Gly798=) c.-548G= (n.-548G=) | |
5 | g.177211847G>T | CA362324695 | NSD1 | c.2575G>T (p.Gly859Cys) n.612+7555G>T n.3031G>T c.3139G>T (p.Gly1047Cys) n.2845G>T c.3448G>T (p.Gly1150Cys) n.3595G>T c.2641G>T (p.Gly881Cys) c.3028G>T (p.Gly1010Cys) c.2392G>T (p.Gly798Cys) c.-548G>T (n.-548G>T) | |
5 | g.177211847_177211849delinsGGT | CA1603479126 | NSD1 | c.2575_2577delinsGGT (p.Gly859=) n.612+7555_612+7557delinsGGT n.3031_3033delinsGGT c.3139_3141delinsGGT (p.Gly1047=) n.2845_2847delinsGGT c.3448_3450delinsGGT (p.Gly1150=) n.3595_3597delinsGGT c.2641_2643delinsGGT (p.Gly881=) c.3028_3030delinsGGT (p.Gly1010=) c.2392_2394delinsGGT (p.Gly798=) c.-548_-546delinsGGT (n.-548_-546delinsGGT) | |
5 | g.177211848G>A | CA362324699 | NSD1 | c.2576G>A (p.Gly859Asp) n.612+7556G>A n.3032G>A c.3140G>A (p.Gly1047Asp) n.2846G>A c.3449G>A (p.Gly1150Asp) n.3596G>A c.2642G>A (p.Gly881Asp) c.3029G>A (p.Gly1010Asp) c.2393G>A (p.Gly798Asp) c.-547G>A (n.-547G>A) | |
5 | g.177211848G>C | CA362324700 | NSD1 | c.2576G>C (p.Gly859Ala) n.612+7556G>C n.3032G>C c.3140G>C (p.Gly1047Ala) n.2846G>C c.3449G>C (p.Gly1150Ala) n.3596G>C c.2642G>C (p.Gly881Ala) c.3029G>C (p.Gly1010Ala) c.2393G>C (p.Gly798Ala) c.-547G>C (n.-547G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211848G= | CA1603479134 | NSD1 | c.2576G= (p.Gly859=) n.612+7556G= n.3032G= c.3140G= (p.Gly1047=) n.2846G= c.3449G= (p.Gly1150=) n.3596G= c.2642G= (p.Gly881=) c.3029G= (p.Gly1010=) c.2393G= (p.Gly798=) c.-547G= (n.-547G=) | |
5 | g.177211848G>T | CA362324701 | NSD1 | c.2576G>T (p.Gly859Val) n.612+7556G>T n.3032G>T c.3140G>T (p.Gly1047Val) n.2846G>T c.3449G>T (p.Gly1150Val) n.3596G>T c.2642G>T (p.Gly881Val) c.3029G>T (p.Gly1010Val) c.2393G>T (p.Gly798Val) c.-547G>T (n.-547G>T) | |
5 | g.177211850_177211851del | CA658796689 | NSD1 | c.2578_2579del (p.Val860LysfsTer6) n.612+7558_612+7559del n.3034_3035del c.3142_3143del (p.Val1048LysfsTer6) n.2848_2849del c.3451_3452del (p.Val1151LysfsTer6) n.3598_3599del c.2644_2645del (p.Val882LysfsTer6) c.3031_3032del (p.Val1011LysfsTer6) c.2395_2396del (p.Val799LysfsTer6) c.-545_-544del (n.-545_-544del) | ClinVar dbSNP |
5 | g.177211849T>A | CA447960997 | NSD1 | c.2577T>A (p.Gly859=) n.612+7557T>A n.3033T>A c.3141T>A (p.Gly1047=) n.2847T>A c.3450T>A (p.Gly1150=) n.3597T>A c.2643T>A (p.Gly881=) c.3030T>A (p.Gly1010=) c.2394T>A (p.Gly798=) c.-546T>A (n.-546T>A) | |
5 | g.177211849T>C | CA447960999 | NSD1 | c.2577T>C (p.Gly859=) n.612+7557T>C n.3033T>C c.3141T>C (p.Gly1047=) n.2847T>C c.3450T>C (p.Gly1150=) n.3597T>C c.2643T>C (p.Gly881=) c.3030T>C (p.Gly1010=) c.2394T>C (p.Gly798=) c.-546T>C (n.-546T>C) | |
5 | g.177211849T>G | CA447960998 | NSD1 | c.2577T>G (p.Gly859=) n.612+7557T>G n.3033T>G c.3141T>G (p.Gly1047=) n.2847T>G c.3450T>G (p.Gly1150=) n.3597T>G c.2643T>G (p.Gly881=) c.3030T>G (p.Gly1010=) c.2394T>G (p.Gly798=) c.-546T>G (n.-546T>G) | gnomAD v4 |
5 | g.177211850G>A | CA362324709 | NSD1 | c.2578G>A (p.Val860Ile) n.612+7558G>A n.3034G>A c.3142G>A (p.Val1048Ile) n.2848G>A c.3451G>A (p.Val1151Ile) n.3598G>A c.2644G>A (p.Val882Ile) c.3031G>A (p.Val1011Ile) c.2395G>A (p.Val799Ile) c.-545G>A (n.-545G>A) | dbSNP |
5 | g.177211850G>C | CA362324713 | NSD1 | c.2578G>C (p.Val860Leu) n.612+7558G>C n.3034G>C c.3142G>C (p.Val1048Leu) n.2848G>C c.3451G>C (p.Val1151Leu) n.3598G>C c.2644G>C (p.Val882Leu) c.3031G>C (p.Val1011Leu) c.2395G>C (p.Val799Leu) c.-545G>C (n.-545G>C) | |
5 | g.177211850G>T | CA362324703 | NSD1 | c.2578G>T (p.Val860Leu) n.612+7558G>T n.3034G>T c.3142G>T (p.Val1048Leu) n.2848G>T c.3451G>T (p.Val1151Leu) n.3598G>T c.2644G>T (p.Val882Leu) c.3031G>T (p.Val1011Leu) c.2395G>T (p.Val799Leu) c.-545G>T (n.-545G>T) | |
5 | g.177211851T>A | CA362324720 | NSD1 | c.2579T>A (p.Val860Glu) n.612+7559T>A n.3035T>A c.3143T>A (p.Val1048Glu) n.2849T>A c.3452T>A (p.Val1151Glu) n.3599T>A c.2645T>A (p.Val882Glu) c.3032T>A (p.Val1011Glu) c.2396T>A (p.Val799Glu) c.-544T>A (n.-544T>A) | |
5 | g.177211851T>C | CA362324717 | NSD1 | c.2579T>C (p.Val860Ala) n.612+7559T>C n.3035T>C c.3143T>C (p.Val1048Ala) n.2849T>C c.3452T>C (p.Val1151Ala) n.3599T>C c.2645T>C (p.Val882Ala) c.3032T>C (p.Val1011Ala) c.2396T>C (p.Val799Ala) c.-544T>C (n.-544T>C) | |
5 | g.177211851T>G | CA362324723 | NSD1 | c.2579T>G (p.Val860Gly) n.612+7559T>G n.3035T>G c.3143T>G (p.Val1048Gly) n.2849T>G c.3452T>G (p.Val1151Gly) n.3599T>G c.2645T>G (p.Val882Gly) c.3032T>G (p.Val1011Gly) c.2396T>G (p.Val799Gly) c.-544T>G (n.-544T>G) | |
5 | g.177211852A= | CA1603479141 | NSD1 | c.2580A= (p.Val860=) n.612+7560A= n.3036A= c.3144A= (p.Val1048=) n.2850A= c.3453A= (p.Val1151=) n.3600A= c.2646A= (p.Val882=) c.3033A= (p.Val1011=) c.2397A= (p.Val799=) c.-543A= (n.-543A=) | |
5 | g.177211852A>C | CA447961000 | NSD1 | c.2580A>C (p.Val860=) n.612+7560A>C n.3036A>C c.3144A>C (p.Val1048=) n.2850A>C c.3453A>C (p.Val1151=) n.3600A>C c.2646A>C (p.Val882=) c.3033A>C (p.Val1011=) c.2397A>C (p.Val799=) c.-543A>C (n.-543A>C) | |
5 | g.177211852A>G | CA132831468 | NSD1 | c.2580A>G (p.Val860=) n.612+7560A>G n.3036A>G c.3144A>G (p.Val1048=) n.2850A>G c.3453A>G (p.Val1151=) n.3600A>G c.2646A>G (p.Val882=) c.3033A>G (p.Val1011=) c.2397A>G (p.Val799=) c.-543A>G (n.-543A>G) | dbSNP gnomAD v4 |
5 | g.177211852A>T | CA447961001 | NSD1 | c.2580A>T (p.Val860=) n.612+7560A>T n.3036A>T c.3144A>T (p.Val1048=) n.2850A>T c.3453A>T (p.Val1151=) n.3600A>T c.2646A>T (p.Val882=) c.3033A>T (p.Val1011=) c.2397A>T (p.Val799=) c.-543A>T (n.-543A>T) | |
5 | g.177211853A>C | CA362324729 | NSD1 | c.2581A>C (p.Asn861His) n.612+7561A>C n.3037A>C c.3145A>C (p.Asn1049His) n.2851A>C c.3454A>C (p.Asn1152His) n.3601A>C c.2647A>C (p.Asn883His) c.3034A>C (p.Asn1012His) c.2398A>C (p.Asn800His) c.-542A>C (n.-542A>C) | |
5 | g.177211853A>G | CA362324731 | NSD1 | c.2581A>G (p.Asn861Asp) n.612+7561A>G n.3037A>G c.3145A>G (p.Asn1049Asp) n.2851A>G c.3454A>G (p.Asn1152Asp) n.3601A>G c.2647A>G (p.Asn883Asp) c.3034A>G (p.Asn1012Asp) c.2398A>G (p.Asn800Asp) c.-542A>G (n.-542A>G) | |
5 | g.177211853A>T | CA362324733 | NSD1 | c.2581A>T (p.Asn861Tyr) n.612+7561A>T n.3037A>T c.3145A>T (p.Asn1049Tyr) n.2851A>T c.3454A>T (p.Asn1152Tyr) n.3601A>T c.2647A>T (p.Asn883Tyr) c.3034A>T (p.Asn1012Tyr) c.2398A>T (p.Asn800Tyr) c.-542A>T (n.-542A>T) | |
5 | g.177211854A>C | CA362324735 | NSD1 | c.2582A>C (p.Asn861Thr) n.612+7562A>C n.3038A>C c.3146A>C (p.Asn1049Thr) n.2852A>C c.3455A>C (p.Asn1152Thr) n.3602A>C c.2648A>C (p.Asn883Thr) c.3035A>C (p.Asn1012Thr) c.2399A>C (p.Asn800Thr) c.-541A>C (n.-541A>C) | |
5 | g.177211854A>G | CA362324737 | NSD1 | c.2582A>G (p.Asn861Ser) n.612+7562A>G n.3038A>G c.3146A>G (p.Asn1049Ser) n.2852A>G c.3455A>G (p.Asn1152Ser) n.3602A>G c.2648A>G (p.Asn883Ser) c.3035A>G (p.Asn1012Ser) c.2399A>G (p.Asn800Ser) c.-541A>G (n.-541A>G) | |
5 | g.177211854A>T | CA362324738 | NSD1 | c.2582A>T (p.Asn861Ile) n.612+7562A>T n.3038A>T c.3146A>T (p.Asn1049Ile) n.2852A>T c.3455A>T (p.Asn1152Ile) n.3602A>T c.2648A>T (p.Asn883Ile) c.3035A>T (p.Asn1012Ile) c.2399A>T (p.Asn800Ile) c.-541A>T (n.-541A>T) | |
5 | g.177211855T>A | CA362324745 | NSD1 | c.2583T>A (p.Asn861Lys) n.612+7563T>A n.3039T>A c.3147T>A (p.Asn1049Lys) n.2853T>A c.3456T>A (p.Asn1152Lys) n.3603T>A c.2649T>A (p.Asn883Lys) c.3036T>A (p.Asn1012Lys) c.2400T>A (p.Asn800Lys) c.-540T>A (n.-540T>A) | |
5 | g.177211855T>C | CA447961002 | NSD1 | c.2583T>C (p.Asn861=) n.612+7563T>C n.3039T>C c.3147T>C (p.Asn1049=) n.2853T>C c.3456T>C (p.Asn1152=) n.3603T>C c.2649T>C (p.Asn883=) c.3036T>C (p.Asn1012=) c.2400T>C (p.Asn800=) c.-540T>C (n.-540T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211855T>G | CA362324747 | NSD1 | c.2583T>G (p.Asn861Lys) n.612+7563T>G n.3039T>G c.3147T>G (p.Asn1049Lys) n.2853T>G c.3456T>G (p.Asn1152Lys) n.3603T>G c.2649T>G (p.Asn883Lys) c.3036T>G (p.Asn1012Lys) c.2400T>G (p.Asn800Lys) c.-540T>G (n.-540T>G) | |
5 | g.177211855T= | CA1603479149 | NSD1 | c.2583T= (p.Asn861=) n.612+7563T= n.3039T= c.3147T= (p.Asn1049=) n.2853T= c.3456T= (p.Asn1152=) n.3603T= c.2649T= (p.Asn883=) c.3036T= (p.Asn1012=) c.2400T= (p.Asn800=) c.-540T= (n.-540T=) | |
5 | g.177211856C>A | CA362324752 | NSD1 | c.2584C>A (p.Gln862Lys) n.612+7564C>A n.3040C>A c.3148C>A (p.Gln1050Lys) n.2854C>A c.3457C>A (p.Gln1153Lys) n.3604C>A c.2650C>A (p.Gln884Lys) c.3037C>A (p.Gln1013Lys) c.2401C>A (p.Gln801Lys) c.-539C>A (n.-539C>A) | dbSNP |
5 | g.177211856C= | CA1603479157 | NSD1 | c.2584C= (p.Gln862=) n.612+7564C= n.3040C= c.3148C= (p.Gln1050=) n.2854C= c.3457C= (p.Gln1153=) n.3604C= c.2650C= (p.Gln884=) c.3037C= (p.Gln1013=) c.2401C= (p.Gln801=) c.-539C= (n.-539C=) | |
5 | g.177211856C>G | CA362324756 | NSD1 | c.2584C>G (p.Gln862Glu) n.612+7564C>G n.3040C>G c.3148C>G (p.Gln1050Glu) n.2854C>G c.3457C>G (p.Gln1153Glu) n.3604C>G c.2650C>G (p.Gln884Glu) c.3037C>G (p.Gln1013Glu) c.2401C>G (p.Gln801Glu) c.-539C>G (n.-539C>G) | |
5 | g.177211856C>T | CA362324761 | NSD1 | c.2584C>T (p.Gln862Ter) n.612+7564C>T n.3040C>T c.3148C>T (p.Gln1050Ter) n.2854C>T c.3457C>T (p.Gln1153Ter) n.3604C>T c.2650C>T (p.Gln884Ter) c.3037C>T (p.Gln1013Ter) c.2401C>T (p.Gln801Ter) c.-539C>T (n.-539C>T) | ClinVar dbSNP |
5 | g.177211857A>C | CA362324770 | NSD1 | c.2585A>C (p.Gln862Pro) n.612+7565A>C n.3041A>C c.3149A>C (p.Gln1050Pro) n.2855A>C c.3458A>C (p.Gln1153Pro) n.3605A>C c.2651A>C (p.Gln884Pro) c.3038A>C (p.Gln1013Pro) c.2402A>C (p.Gln801Pro) c.-538A>C (n.-538A>C) | gnomAD v4 |
5 | g.177211857A>G | CA362324765 | NSD1 | c.2585A>G (p.Gln862Arg) n.612+7565A>G n.3041A>G c.3149A>G (p.Gln1050Arg) n.2855A>G c.3458A>G (p.Gln1153Arg) n.3605A>G c.2651A>G (p.Gln884Arg) c.3038A>G (p.Gln1013Arg) c.2402A>G (p.Gln801Arg) c.-538A>G (n.-538A>G) | gnomAD v4 |
5 | g.177211857A>T | CA362324766 | NSD1 | c.2585A>T (p.Gln862Leu) n.612+7565A>T n.3041A>T c.3149A>T (p.Gln1050Leu) n.2855A>T c.3458A>T (p.Gln1153Leu) n.3605A>T c.2651A>T (p.Gln884Leu) c.3038A>T (p.Gln1013Leu) c.2402A>T (p.Gln801Leu) c.-538A>T (n.-538A>T) | |
5 | g.177211857_177211858del | CA2544542413 | NSD1 | c.2585_2586del (p.Gln862ArgfsTer4) n.612+7565_612+7566del n.3041_3042del c.3149_3150del (p.Gln1050ArgfsTer4) n.2855_2856del c.3458_3459del (p.Gln1153ArgfsTer4) n.3605_3606del c.2651_2652del (p.Gln884ArgfsTer4) c.3038_3039del (p.Gln1013ArgfsTer4) c.2402_2403del (p.Gln801ArgfsTer4) c.-538_-537del (n.-538_-537del) | |
5 | g.177211858A= | CA1603479170 | NSD1 | c.2586A= (p.Gln862=) n.612+7566A= n.3042A= c.3150A= (p.Gln1050=) n.2856A= c.3459A= (p.Gln1153=) n.3606A= c.2652A= (p.Gln884=) c.3039A= (p.Gln1013=) c.2403A= (p.Gln801=) c.-537A= (n.-537A=) | |
5 | g.177211858A>C | CA362324772 | NSD1 | c.2586A>C (p.Gln862His) n.612+7566A>C n.3042A>C c.3150A>C (p.Gln1050His) n.2856A>C c.3459A>C (p.Gln1153His) n.3606A>C c.2652A>C (p.Gln884His) c.3039A>C (p.Gln1013His) c.2403A>C (p.Gln801His) c.-537A>C (n.-537A>C) | |
5 | g.177211858A>G | CA3577439 | NSD1 | c.2586A>G (p.Gln862=) n.612+7566A>G n.3042A>G c.3150A>G (p.Gln1050=) n.2856A>G c.3459A>G (p.Gln1153=) n.3606A>G c.2652A>G (p.Gln884=) c.3039A>G (p.Gln1013=) c.2403A>G (p.Gln801=) c.-537A>G (n.-537A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211858A>T | CA362324776 | NSD1 | c.2586A>T (p.Gln862His) n.612+7566A>T n.3042A>T c.3150A>T (p.Gln1050His) n.2856A>T c.3459A>T (p.Gln1153His) n.3606A>T c.2652A>T (p.Gln884His) c.3039A>T (p.Gln1013His) c.2403A>T (p.Gln801His) c.-537A>T (n.-537A>T) | |
5 | g.177211858_177211859insTCG | CA2570227277 | NSD1 | c.2586_2587insTCG (p.Gln862_Val863insSer) n.612+7566_612+7567insTCG n.3042_3043insTCG c.3150_3151insTCG (p.Gln1050_Val1051insSer) n.2856_2857insTCG c.3459_3460insTCG (p.Gln1153_Val1154insSer) n.3606_3607insTCG c.2652_2653insTCG (p.Gln884_Val885insSer) c.3039_3040insTCG (p.Gln1013_Val1014insSer) c.2403_2404insTCG (p.Gln801_Val802insSer) c.-537_-536insTCG (n.-537_-536insTCG) | |
5 | g.177211859G>A | CA132831469 | NSD1 | c.2587G>A (p.Val863Met) n.612+7567G>A n.3043G>A c.3151G>A (p.Val1051Met) n.2857G>A c.3460G>A (p.Val1154Met) n.3607G>A c.2653G>A (p.Val885Met) c.3040G>A (p.Val1014Met) c.2404G>A (p.Val802Met) c.-536G>A (n.-536G>A) | ClinVar dbSNP gnomAD v4 |
5 | g.177211859G>C | CA362324786 | NSD1 | c.2587G>C (p.Val863Leu) n.612+7567G>C n.3043G>C c.3151G>C (p.Val1051Leu) n.2857G>C c.3460G>C (p.Val1154Leu) n.3607G>C c.2653G>C (p.Val885Leu) c.3040G>C (p.Val1014Leu) c.2404G>C (p.Val802Leu) c.-536G>C (n.-536G>C) | dbSNP |
5 | g.177211859G= | CA1603479175 | NSD1 | c.2587G= (p.Val863=) n.612+7567G= n.3043G= c.3151G= (p.Val1051=) n.2857G= c.3460G= (p.Val1154=) n.3607G= c.2653G= (p.Val885=) c.3040G= (p.Val1014=) c.2404G= (p.Val802=) c.-536G= (n.-536G=) | |
5 | g.177211859G>T | CA362324788 | NSD1 | c.2587G>T (p.Val863Leu) n.612+7567G>T n.3043G>T c.3151G>T (p.Val1051Leu) n.2857G>T c.3460G>T (p.Val1154Leu) n.3607G>T c.2653G>T (p.Val885Leu) c.3040G>T (p.Val1014Leu) c.2404G>T (p.Val802Leu) c.-536G>T (n.-536G>T) | dbSNP |
5 | g.177211860T>A | CA362324792 | NSD1 | c.2588T>A (p.Val863Glu) n.612+7568T>A n.3044T>A c.3152T>A (p.Val1051Glu) n.2858T>A c.3461T>A (p.Val1154Glu) n.3608T>A c.2654T>A (p.Val885Glu) c.3041T>A (p.Val1014Glu) c.2405T>A (p.Val802Glu) c.-535T>A (n.-535T>A) | |
5 | g.177211860T>C | CA362324794 | NSD1 | c.2588T>C (p.Val863Ala) n.612+7568T>C n.3044T>C c.3152T>C (p.Val1051Ala) n.2858T>C c.3461T>C (p.Val1154Ala) n.3608T>C c.2654T>C (p.Val885Ala) c.3041T>C (p.Val1014Ala) c.2405T>C (p.Val802Ala) c.-535T>C (n.-535T>C) | |
5 | g.177211860T>G | CA362324798 | NSD1 | c.2588T>G (p.Val863Gly) n.612+7568T>G n.3044T>G c.3152T>G (p.Val1051Gly) n.2858T>G c.3461T>G (p.Val1154Gly) n.3608T>G c.2654T>G (p.Val885Gly) c.3041T>G (p.Val1014Gly) c.2405T>G (p.Val802Gly) c.-535T>G (n.-535T>G) | |
5 | g.177211861G>A | CA447961003 | NSD1 | c.2589G>A (p.Val863=) n.612+7569G>A n.3045G>A c.3153G>A (p.Val1051=) n.2859G>A c.3462G>A (p.Val1154=) n.3609G>A c.2655G>A (p.Val885=) c.3042G>A (p.Val1014=) c.2406G>A (p.Val802=) c.-534G>A (n.-534G>A) | dbSNP |
5 | g.177211861G>C | CA447961004 | NSD1 | c.2589G>C (p.Val863=) n.612+7569G>C n.3045G>C c.3153G>C (p.Val1051=) n.2859G>C c.3462G>C (p.Val1154=) n.3609G>C c.2655G>C (p.Val885=) c.3042G>C (p.Val1014=) c.2406G>C (p.Val802=) c.-534G>C (n.-534G>C) | |
5 | g.177211861G>T | CA447961005 | NSD1 | c.2589G>T (p.Val863=) n.612+7569G>T n.3045G>T c.3153G>T (p.Val1051=) n.2859G>T c.3462G>T (p.Val1154=) n.3609G>T c.2655G>T (p.Val885=) c.3042G>T (p.Val1014=) c.2406G>T (p.Val802=) c.-534G>T (n.-534G>T) | |
5 | g.177211862G>A | CA362324805 | NSD1 | c.2590G>A (p.Val864Met) n.612+7570G>A n.3046G>A c.3154G>A (p.Val1052Met) n.2860G>A c.3463G>A (p.Val1155Met) n.3610G>A c.2656G>A (p.Val886Met) c.3043G>A (p.Val1015Met) c.2407G>A (p.Val803Met) c.-533G>A (n.-533G>A) | gnomAD v4 |
5 | g.177211862G>C | CA362324806 | NSD1 | c.2590G>C (p.Val864Leu) n.612+7570G>C n.3046G>C c.3154G>C (p.Val1052Leu) n.2860G>C c.3463G>C (p.Val1155Leu) n.3610G>C c.2656G>C (p.Val886Leu) c.3043G>C (p.Val1015Leu) c.2407G>C (p.Val803Leu) c.-533G>C (n.-533G>C) | |
5 | g.177211862G= | CA1603479184 | NSD1 | c.2590G= (p.Val864=) n.612+7570G= n.3046G= c.3154G= (p.Val1052=) n.2860G= c.3463G= (p.Val1155=) n.3610G= c.2656G= (p.Val886=) c.3043G= (p.Val1015=) c.2407G= (p.Val803=) c.-533G= (n.-533G=) | |
5 | g.177211862G>T | CA362324807 | NSD1 | c.2590G>T (p.Val864Leu) n.612+7570G>T n.3046G>T c.3154G>T (p.Val1052Leu) n.2860G>T c.3463G>T (p.Val1155Leu) n.3610G>T c.2656G>T (p.Val886Leu) c.3043G>T (p.Val1015Leu) c.2407G>T (p.Val803Leu) c.-533G>T (n.-533G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211863_177211864del | CA2695202840 | NSD1 | c.2591_2592del (p.Val864AlafsTer2) n.612+7571_612+7572del n.3047_3048del c.3155_3156del (p.Val1052AlafsTer2) n.2861_2862del c.3464_3465del (p.Val1155AlafsTer2) n.3611_3612del c.2657_2658del (p.Val886AlafsTer2) c.3044_3045del (p.Val1015AlafsTer2) c.2408_2409del (p.Val803AlafsTer2) c.-532_-531del (n.-532_-531del) | |
5 | g.177211863T>A | CA362324819 | NSD1 | c.2591T>A (p.Val864Glu) n.612+7571T>A n.3047T>A c.3155T>A (p.Val1052Glu) n.2861T>A c.3464T>A (p.Val1155Glu) n.3611T>A c.2657T>A (p.Val886Glu) c.3044T>A (p.Val1015Glu) c.2408T>A (p.Val803Glu) c.-532T>A (n.-532T>A) | |
5 | g.177211863T>C | CA362324811 | NSD1 | c.2591T>C (p.Val864Ala) n.612+7571T>C n.3047T>C c.3155T>C (p.Val1052Ala) n.2861T>C c.3464T>C (p.Val1155Ala) n.3611T>C c.2657T>C (p.Val886Ala) c.3044T>C (p.Val1015Ala) c.2408T>C (p.Val803Ala) c.-532T>C (n.-532T>C) | |
5 | g.177211863T>G | CA362324808 | NSD1 | c.2591T>G (p.Val864Gly) n.612+7571T>G n.3047T>G c.3155T>G (p.Val1052Gly) n.2861T>G c.3464T>G (p.Val1155Gly) n.3611T>G c.2657T>G (p.Val886Gly) c.3044T>G (p.Val1015Gly) c.2408T>G (p.Val803Gly) c.-532T>G (n.-532T>G) | |
5 | g.177211863_177211864insC | CA2570518578 | NSD1 | c.2591_2592insC (p.Pro865AlafsTer2) n.612+7571_612+7572insC n.3047_3048insC c.3155_3156insC (p.Pro1053AlafsTer2) n.2861_2862insC c.3464_3465insC (p.Pro1156AlafsTer2) n.3611_3612insC c.2657_2658insC (p.Pro887AlafsTer2) c.3044_3045insC (p.Pro1016AlafsTer2) c.2408_2409insC (p.Pro804AlafsTer2) c.-532_-531insC (n.-532_-531insC) | |
5 | g.177211864G>A | CA447961006 | NSD1 | c.2592G>A (p.Val864=) n.612+7572G>A n.3048G>A c.3156G>A (p.Val1052=) n.2862G>A c.3465G>A (p.Val1155=) n.3612G>A c.2658G>A (p.Val886=) c.3045G>A (p.Val1015=) c.2409G>A (p.Val803=) c.-531G>A (n.-531G>A) | dbSNP gnomAD v4 |
5 | g.177211864G>C | CA447961007 | NSD1 | c.2592G>C (p.Val864=) n.612+7572G>C n.3048G>C c.3156G>C (p.Val1052=) n.2862G>C c.3465G>C (p.Val1155=) n.3612G>C c.2658G>C (p.Val886=) c.3045G>C (p.Val1015=) c.2409G>C (p.Val803=) c.-531G>C (n.-531G>C) | |
5 | g.177211864G>T | CA447961008 | NSD1 | c.2592G>T (p.Val864=) n.612+7572G>T n.3048G>T c.3156G>T (p.Val1052=) n.2862G>T c.3465G>T (p.Val1155=) n.3612G>T c.2658G>T (p.Val886=) c.3045G>T (p.Val1015=) c.2409G>T (p.Val803=) c.-531G>T (n.-531G>T) | |
5 | g.177211865C>A | CA362324830 | NSD1 | c.2593C>A (p.Pro865Thr) n.612+7573C>A n.3049C>A c.3157C>A (p.Pro1053Thr) n.2863C>A c.3466C>A (p.Pro1156Thr) n.3613C>A c.2659C>A (p.Pro887Thr) c.3046C>A (p.Pro1016Thr) c.2410C>A (p.Pro804Thr) c.-530C>A (n.-530C>A) | dbSNP |
5 | g.177211865C= | CA1603479189 | NSD1 | c.2593C= (p.Pro865=) n.612+7573C= n.3049C= c.3157C= (p.Pro1053=) n.2863C= c.3466C= (p.Pro1156=) n.3613C= c.2659C= (p.Pro887=) c.3046C= (p.Pro1016=) c.2410C= (p.Pro804=) c.-530C= (n.-530C=) | |
5 | g.177211865C>G | CA362324823 | NSD1 | c.2593C>G (p.Pro865Ala) n.612+7573C>G n.3049C>G c.3157C>G (p.Pro1053Ala) n.2863C>G c.3466C>G (p.Pro1156Ala) n.3613C>G c.2659C>G (p.Pro887Ala) c.3046C>G (p.Pro1016Ala) c.2410C>G (p.Pro804Ala) c.-530C>G (n.-530C>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211865C>T | CA362324826 | NSD1 | c.2593C>T (p.Pro865Ser) n.612+7573C>T n.3049C>T c.3157C>T (p.Pro1053Ser) n.2863C>T c.3466C>T (p.Pro1156Ser) n.3613C>T c.2659C>T (p.Pro887Ser) c.3046C>T (p.Pro1016Ser) c.2410C>T (p.Pro804Ser) c.-530C>T (n.-530C>T) | |
5 | g.177211866C>A | CA362324833 | NSD1 | c.2594C>A (p.Pro865His) n.612+7574C>A n.3050C>A c.3158C>A (p.Pro1053His) n.2864C>A c.3467C>A (p.Pro1156His) n.3614C>A c.2660C>A (p.Pro887His) c.3047C>A (p.Pro1016His) c.2411C>A (p.Pro804His) c.-529C>A (n.-529C>A) | dbSNP |
5 | g.177211866C>G | CA362324839 | NSD1 | c.2594C>G (p.Pro865Arg) n.612+7574C>G n.3050C>G c.3158C>G (p.Pro1053Arg) n.2864C>G c.3467C>G (p.Pro1156Arg) n.3614C>G c.2660C>G (p.Pro887Arg) c.3047C>G (p.Pro1016Arg) c.2411C>G (p.Pro804Arg) c.-529C>G (n.-529C>G) | gnomAD v4 |
5 | g.177211866C>T | CA362324845 | NSD1 | c.2594C>T (p.Pro865Leu) n.612+7574C>T n.3050C>T c.3158C>T (p.Pro1053Leu) n.2864C>T c.3467C>T (p.Pro1156Leu) n.3614C>T c.2660C>T (p.Pro887Leu) c.3047C>T (p.Pro1016Leu) c.2411C>T (p.Pro804Leu) c.-529C>T (n.-529C>T) | |
5 | g.177211866_177211867insGTATCAT | CA2538050649 | NSD1 | c.2594_2595insGTATCAT (p.Lys866TyrfsTer3) n.612+7574_612+7575insGTATCAT n.3050_3051insGTATCAT c.3158_3159insGTATCAT (p.Lys1054TyrfsTer3) n.2864_2865insGTATCAT c.3467_3468insGTATCAT (p.Lys1157TyrfsTer3) n.3614_3615insGTATCAT c.2660_2661insGTATCAT (p.Lys888TyrfsTer3) c.3047_3048insGTATCAT (p.Lys1017TyrfsTer3) c.2411_2412insGTATCAT (p.Lys805TyrfsTer3) c.-529_-528insGTATCAT (n.-529_-528insGTATCAT) | |
5 | g.177211867T>A | CA447961009 | NSD1 | c.2595T>A (p.Pro865=) n.612+7575T>A n.3051T>A c.3159T>A (p.Pro1053=) n.2865T>A c.3468T>A (p.Pro1156=) n.3615T>A c.2661T>A (p.Pro887=) c.3048T>A (p.Pro1016=) c.2412T>A (p.Pro804=) c.-528T>A (n.-528T>A) | |
5 | g.177211867T>C | CA3577440 | NSD1 | c.2595T>C (p.Pro865=) n.612+7575T>C n.3051T>C c.3159T>C (p.Pro1053=) n.2865T>C c.3468T>C (p.Pro1156=) n.3615T>C c.2661T>C (p.Pro887=) c.3048T>C (p.Pro1016=) c.2412T>C (p.Pro804=) c.-528T>C (n.-528T>C) | dbSNP ExAC gnomAD v2 |
5 | g.177211867T>G | CA447961010 | NSD1 | c.2595T>G (p.Pro865=) n.612+7575T>G n.3051T>G c.3159T>G (p.Pro1053=) n.2865T>G c.3468T>G (p.Pro1156=) n.3615T>G c.2661T>G (p.Pro887=) c.3048T>G (p.Pro1016=) c.2412T>G (p.Pro804=) c.-528T>G (n.-528T>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211867T= | CA1603479196 | NSD1 | c.2595T= (p.Pro865=) n.612+7575T= n.3051T= c.3159T= (p.Pro1053=) n.2865T= c.3468T= (p.Pro1156=) n.3615T= c.2661T= (p.Pro887=) c.3048T= (p.Pro1016=) c.2412T= (p.Pro804=) c.-528T= (n.-528T=) | |
5 | g.177211868A>C | CA362324860 | NSD1 | c.2596A>C (p.Lys866Gln) n.612+7576A>C n.3052A>C c.3160A>C (p.Lys1054Gln) n.2866A>C c.3469A>C (p.Lys1157Gln) n.3616A>C c.2662A>C (p.Lys888Gln) c.3049A>C (p.Lys1017Gln) c.2413A>C (p.Lys805Gln) c.-527A>C (n.-527A>C) | |
5 | g.177211868A>G | CA362324853 | NSD1 | c.2596A>G (p.Lys866Glu) n.612+7576A>G n.3052A>G c.3160A>G (p.Lys1054Glu) n.2866A>G c.3469A>G (p.Lys1157Glu) n.3616A>G c.2662A>G (p.Lys888Glu) c.3049A>G (p.Lys1017Glu) c.2413A>G (p.Lys805Glu) c.-527A>G (n.-527A>G) | gnomAD v4 |
5 | g.177211868A>T | CA362324856 | NSD1 | c.2596A>T (p.Lys866Ter) n.612+7576A>T n.3052A>T c.3160A>T (p.Lys1054Ter) n.2866A>T c.3469A>T (p.Lys1157Ter) n.3616A>T c.2662A>T (p.Lys888Ter) c.3049A>T (p.Lys1017Ter) c.2413A>T (p.Lys805Ter) c.-527A>T (n.-527A>T) | |
5 | g.177211872dup | CA447961011 | NSD1 | c.2600dup (p.Arg868AlafsTer11) n.612+7580dup n.3056dup c.3164dup (p.Arg1056AlafsTer11) n.2870dup c.3473dup (p.Arg1159AlafsTer11) n.3620dup c.2666dup (p.Arg890AlafsTer11) c.3053dup (p.Arg1019AlafsTer11) c.2417dup (p.Arg807AlafsTer11) c.-523dup (n.-523dup) | COSMIC COSMIC |
5 | g.177211869A>C | CA362324865 | NSD1 | c.2597A>C (p.Lys866Thr) n.612+7577A>C n.3053A>C c.3161A>C (p.Lys1054Thr) n.2867A>C c.3470A>C (p.Lys1157Thr) n.3617A>C c.2663A>C (p.Lys888Thr) c.3050A>C (p.Lys1017Thr) c.2414A>C (p.Lys805Thr) c.-526A>C (n.-526A>C) | |
5 | g.177211869A>G | CA362324867 | NSD1 | c.2597A>G (p.Lys866Arg) n.612+7577A>G n.3053A>G c.3161A>G (p.Lys1054Arg) n.2867A>G c.3470A>G (p.Lys1157Arg) n.3617A>G c.2663A>G (p.Lys888Arg) c.3050A>G (p.Lys1017Arg) c.2414A>G (p.Lys805Arg) c.-526A>G (n.-526A>G) | |
5 | g.177211869A>T | CA362324872 | NSD1 | c.2597A>T (p.Lys866Ile) n.612+7577A>T n.3053A>T c.3161A>T (p.Lys1054Ile) n.2867A>T c.3470A>T (p.Lys1157Ile) n.3617A>T c.2663A>T (p.Lys888Ile) c.3050A>T (p.Lys1017Ile) c.2414A>T (p.Lys805Ile) c.-526A>T (n.-526A>T) | |
5 | g.177211870A>C | CA362324877 | NSD1 | c.2598A>C (p.Lys866Asn) n.612+7578A>C n.3054A>C c.3162A>C (p.Lys1054Asn) n.2868A>C c.3471A>C (p.Lys1157Asn) n.3618A>C c.2664A>C (p.Lys888Asn) c.3051A>C (p.Lys1017Asn) c.2415A>C (p.Lys805Asn) c.-525A>C (n.-525A>C) | |
5 | g.177211870A>G | CA447961012 | NSD1 | c.2598A>G (p.Lys866=) n.612+7578A>G n.3054A>G c.3162A>G (p.Lys1054=) n.2868A>G c.3471A>G (p.Lys1157=) n.3618A>G c.2664A>G (p.Lys888=) c.3051A>G (p.Lys1017=) c.2415A>G (p.Lys805=) c.-525A>G (n.-525A>G) | |
5 | g.177211870A>T | CA362324880 | NSD1 | c.2598A>T (p.Lys866Asn) n.612+7578A>T n.3054A>T c.3162A>T (p.Lys1054Asn) n.2868A>T c.3471A>T (p.Lys1157Asn) n.3618A>T c.2664A>T (p.Lys888Asn) c.3051A>T (p.Lys1017Asn) c.2415A>T (p.Lys805Asn) c.-525A>T (n.-525A>T) | |
5 | g.177211871A>C | CA362324888 | NSD1 | c.2599A>C (p.Lys867Gln) n.612+7579A>C n.3055A>C c.3163A>C (p.Lys1055Gln) n.2869A>C c.3472A>C (p.Lys1158Gln) n.3619A>C c.2665A>C (p.Lys889Gln) c.3052A>C (p.Lys1018Gln) c.2416A>C (p.Lys806Gln) c.-524A>C (n.-524A>C) | |
5 | g.177211871A>G | CA362324892 | NSD1 | c.2599A>G (p.Lys867Glu) n.612+7579A>G n.3055A>G c.3163A>G (p.Lys1055Glu) n.2869A>G c.3472A>G (p.Lys1158Glu) n.3619A>G c.2665A>G (p.Lys889Glu) c.3052A>G (p.Lys1018Glu) c.2416A>G (p.Lys806Glu) c.-524A>G (n.-524A>G) | |
5 | g.177211871A>T | CA362324891 | NSD1 | c.2599A>T (p.Lys867Ter) n.612+7579A>T n.3055A>T c.3163A>T (p.Lys1055Ter) n.2869A>T c.3472A>T (p.Lys1158Ter) n.3619A>T c.2665A>T (p.Lys889Ter) c.3052A>T (p.Lys1018Ter) c.2416A>T (p.Lys806Ter) c.-524A>T (n.-524A>T) |