| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177211586A= | CA1603478358 | NSD1 | c.2314A= (p.Thr772=) n.612+7294A= n.2770A= c.2878A= (p.Thr960=) n.2584A= c.3187A= (p.Thr1063=) n.3334A= c.2380A= (p.Thr794=) c.2767A= (p.Thr923=) c.2131A= (p.Thr711=) c.-809A= (n.-809A=) | |
| 5 | g.177211586A>C | CA362322632 | NSD1 | c.2314A>C (p.Thr772Pro) n.612+7294A>C n.2770A>C c.2878A>C (p.Thr960Pro) n.2584A>C c.3187A>C (p.Thr1063Pro) n.3334A>C c.2380A>C (p.Thr794Pro) c.2767A>C (p.Thr923Pro) c.2131A>C (p.Thr711Pro) c.-809A>C (n.-809A>C) | |
| 5 | g.177211586A>G | CA149196 | NSD1 | c.2314A>G (p.Thr772Ala) n.612+7294A>G n.2770A>G c.2878A>G (p.Thr960Ala) n.2584A>G c.3187A>G (p.Thr1063Ala) n.3334A>G c.2380A>G (p.Thr794Ala) c.2767A>G (p.Thr923Ala) c.2131A>G (p.Thr711Ala) c.-809A>G (n.-809A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211586A>T | CA362322646 | NSD1 | c.2314A>T (p.Thr772Ser) n.612+7294A>T n.2770A>T c.2878A>T (p.Thr960Ser) n.2584A>T c.3187A>T (p.Thr1063Ser) n.3334A>T c.2380A>T (p.Thr794Ser) c.2767A>T (p.Thr923Ser) c.2131A>T (p.Thr711Ser) c.-809A>T (n.-809A>T) | |
| 5 | g.177211587C>A | CA362322652 | NSD1 | c.2315C>A (p.Thr772Asn) n.612+7295C>A n.2771C>A c.2879C>A (p.Thr960Asn) n.2585C>A c.3188C>A (p.Thr1063Asn) n.3335C>A c.2381C>A (p.Thr794Asn) c.2768C>A (p.Thr923Asn) c.2132C>A (p.Thr711Asn) c.-808C>A (n.-808C>A) | |
| 5 | g.177211587C>G | CA362322661 | NSD1 | c.2315C>G (p.Thr772Ser) n.612+7295C>G n.2771C>G c.2879C>G (p.Thr960Ser) n.2585C>G c.3188C>G (p.Thr1063Ser) n.3335C>G c.2381C>G (p.Thr794Ser) c.2768C>G (p.Thr923Ser) c.2132C>G (p.Thr711Ser) c.-808C>G (n.-808C>G) | dbSNP |
| 5 | g.177211587C>T | CA362322655 | NSD1 | c.2315C>T (p.Thr772Ile) n.612+7295C>T n.2771C>T c.2879C>T (p.Thr960Ile) n.2585C>T c.3188C>T (p.Thr1063Ile) n.3335C>T c.2381C>T (p.Thr794Ile) c.2768C>T (p.Thr923Ile) c.2132C>T (p.Thr711Ile) c.-808C>T (n.-808C>T) | gnomAD v4 |
| 5 | g.177211588del | CA2695202829 | NSD1 | c.2316del (p.Asp774MetfsTer14) n.612+7296del n.2772del c.2880del (p.Asp962MetfsTer14) n.2586del c.3189del (p.Asp1065MetfsTer14) n.3336del c.2382del (p.Asp796MetfsTer14) c.2769del (p.Asp925MetfsTer14) c.2133del (p.Asp713MetfsTer14) c.-807del (n.-807del) | |
| 5 | g.177211588T>A | CA447960790 | NSD1 | c.2316T>A (p.Thr772=) n.612+7296T>A n.2772T>A c.2880T>A (p.Thr960=) n.2586T>A c.3189T>A (p.Thr1063=) n.3336T>A c.2382T>A (p.Thr794=) c.2769T>A (p.Thr923=) c.2133T>A (p.Thr711=) c.-807T>A (n.-807T>A) | |
| 5 | g.177211588T>C | CA447960789 | NSD1 | c.2316T>C (p.Thr772=) n.612+7296T>C n.2772T>C c.2880T>C (p.Thr960=) n.2586T>C c.3189T>C (p.Thr1063=) n.3336T>C c.2382T>C (p.Thr794=) c.2769T>C (p.Thr923=) c.2133T>C (p.Thr711=) c.-807T>C (n.-807T>C) | dbSNP gnomAD v4 |
| 5 | g.177211588T>G | CA447960788 | NSD1 | c.2316T>G (p.Thr772=) n.612+7296T>G n.2772T>G c.2880T>G (p.Thr960=) n.2586T>G c.3189T>G (p.Thr1063=) n.3336T>G c.2382T>G (p.Thr794=) c.2769T>G (p.Thr923=) c.2133T>G (p.Thr711=) c.-807T>G (n.-807T>G) | |
| 5 | g.177211588T= | CA1603478367 | NSD1 | c.2316T= (p.Thr772=) n.612+7296T= n.2772T= c.2880T= (p.Thr960=) n.2586T= c.3189T= (p.Thr1063=) n.3336T= c.2382T= (p.Thr794=) c.2769T= (p.Thr923=) c.2133T= (p.Thr711=) c.-807T= (n.-807T=) | |
| 5 | g.177211589C>A | CA362322666 | NSD1 | c.2317C>A (p.Leu773Ile) n.612+7297C>A n.2773C>A c.2881C>A (p.Leu961Ile) n.2587C>A c.3190C>A (p.Leu1064Ile) n.3337C>A c.2383C>A (p.Leu795Ile) c.2770C>A (p.Leu924Ile) c.2134C>A (p.Leu712Ile) c.-806C>A (n.-806C>A) | dbSNP |
| 5 | g.177211589C>G | CA362322669 | NSD1 | c.2317C>G (p.Leu773Val) n.612+7297C>G n.2773C>G c.2881C>G (p.Leu961Val) n.2587C>G c.3190C>G (p.Leu1064Val) n.3337C>G c.2383C>G (p.Leu795Val) c.2770C>G (p.Leu924Val) c.2134C>G (p.Leu712Val) c.-806C>G (n.-806C>G) | |
| 5 | g.177211589C>T | CA362322670 | NSD1 | c.2317C>T (p.Leu773Phe) n.612+7297C>T n.2773C>T c.2881C>T (p.Leu961Phe) n.2587C>T c.3190C>T (p.Leu1064Phe) n.3337C>T c.2383C>T (p.Leu795Phe) c.2770C>T (p.Leu924Phe) c.2134C>T (p.Leu712Phe) c.-806C>T (n.-806C>T) | |
| 5 | g.177211590T>A | CA3577394 | NSD1 | c.2318T>A (p.Leu773His) n.612+7298T>A n.2774T>A c.2882T>A (p.Leu961His) n.2588T>A c.3191T>A (p.Leu1064His) n.3338T>A c.2384T>A (p.Leu795His) c.2771T>A (p.Leu924His) c.2135T>A (p.Leu712His) c.-805T>A (n.-805T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177211590T>C | CA362322671 | NSD1 | c.2318T>C (p.Leu773Pro) n.612+7298T>C n.2774T>C c.2882T>C (p.Leu961Pro) n.2588T>C c.3191T>C (p.Leu1064Pro) n.3338T>C c.2384T>C (p.Leu795Pro) c.2771T>C (p.Leu924Pro) c.2135T>C (p.Leu712Pro) c.-805T>C (n.-805T>C) | |
| 5 | g.177211590T>G | CA362322672 | NSD1 | c.2318T>G (p.Leu773Arg) n.612+7298T>G n.2774T>G c.2882T>G (p.Leu961Arg) n.2588T>G c.3191T>G (p.Leu1064Arg) n.3338T>G c.2384T>G (p.Leu795Arg) c.2771T>G (p.Leu924Arg) c.2135T>G (p.Leu712Arg) c.-805T>G (n.-805T>G) | |
| 5 | g.177211590T= | CA1603478374 | NSD1 | c.2318T= (p.Leu773=) n.612+7298T= n.2774T= c.2882T= (p.Leu961=) n.2588T= c.3191T= (p.Leu1064=) n.3338T= c.2384T= (p.Leu795=) c.2771T= (p.Leu924=) c.2135T= (p.Leu712=) c.-805T= (n.-805T=) | |
| 5 | g.177211591T>A | CA447960805 | NSD1 | c.2319T>A (p.Leu773=) n.612+7299T>A n.2775T>A c.2883T>A (p.Leu961=) n.2589T>A c.3192T>A (p.Leu1064=) n.3339T>A c.2385T>A (p.Leu795=) c.2772T>A (p.Leu924=) c.2136T>A (p.Leu712=) c.-804T>A (n.-804T>A) | |
| 5 | g.177211591T>C | CA447960806 | NSD1 | c.2319T>C (p.Leu773=) n.612+7299T>C n.2775T>C c.2883T>C (p.Leu961=) n.2589T>C c.3192T>C (p.Leu1064=) n.3339T>C c.2385T>C (p.Leu795=) c.2772T>C (p.Leu924=) c.2136T>C (p.Leu712=) c.-804T>C (n.-804T>C) | ClinVar gnomAD v4 |
| 5 | g.177211591T>G | CA447960807 | NSD1 | c.2319T>G (p.Leu773=) n.612+7299T>G n.2775T>G c.2883T>G (p.Leu961=) n.2589T>G c.3192T>G (p.Leu1064=) n.3339T>G c.2385T>G (p.Leu795=) c.2772T>G (p.Leu924=) c.2136T>G (p.Leu712=) c.-804T>G (n.-804T>G) | |
| 5 | g.177211592G>A | CA362322677 | NSD1 | c.2320G>A (p.Asp774Asn) n.612+7300G>A n.2776G>A c.2884G>A (p.Asp962Asn) n.2590G>A c.3193G>A (p.Asp1065Asn) n.3340G>A c.2386G>A (p.Asp796Asn) c.2773G>A (p.Asp925Asn) c.2137G>A (p.Asp713Asn) c.-803G>A (n.-803G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177211592G>C | CA362322681 | NSD1 | c.2320G>C (p.Asp774His) n.612+7300G>C n.2776G>C c.2884G>C (p.Asp962His) n.2590G>C c.3193G>C (p.Asp1065His) n.3340G>C c.2386G>C (p.Asp796His) c.2773G>C (p.Asp925His) c.2137G>C (p.Asp713His) c.-803G>C (n.-803G>C) | dbSNP gnomAD v4 |
| 5 | g.177211592G= | CA1603478380 | NSD1 | c.2320G= (p.Asp774=) n.612+7300G= n.2776G= c.2884G= (p.Asp962=) n.2590G= c.3193G= (p.Asp1065=) n.3340G= c.2386G= (p.Asp796=) c.2773G= (p.Asp925=) c.2137G= (p.Asp713=) c.-803G= (n.-803G=) | |
| 5 | g.177211592G>T | CA362322684 | NSD1 | c.2320G>T (p.Asp774Tyr) n.612+7300G>T n.2776G>T c.2884G>T (p.Asp962Tyr) n.2590G>T c.3193G>T (p.Asp1065Tyr) n.3340G>T c.2386G>T (p.Asp796Tyr) c.2773G>T (p.Asp925Tyr) c.2137G>T (p.Asp713Tyr) c.-803G>T (n.-803G>T) | ClinVar dbSNP |
| 5 | g.177211593A>C | CA362322690 | NSD1 | c.2321A>C (p.Asp774Ala) n.612+7301A>C n.2777A>C c.2885A>C (p.Asp962Ala) n.2591A>C c.3194A>C (p.Asp1065Ala) n.3341A>C c.2387A>C (p.Asp796Ala) c.2774A>C (p.Asp925Ala) c.2138A>C (p.Asp713Ala) c.-802A>C (n.-802A>C) | |
| 5 | g.177211593A>G | CA362322692 | NSD1 | c.2321A>G (p.Asp774Gly) n.612+7301A>G n.2777A>G c.2885A>G (p.Asp962Gly) n.2591A>G c.3194A>G (p.Asp1065Gly) n.3341A>G c.2387A>G (p.Asp796Gly) c.2774A>G (p.Asp925Gly) c.2138A>G (p.Asp713Gly) c.-802A>G (n.-802A>G) | |
| 5 | g.177211593A>T | CA362322698 | NSD1 | c.2321A>T (p.Asp774Val) n.612+7301A>T n.2777A>T c.2885A>T (p.Asp962Val) n.2591A>T c.3194A>T (p.Asp1065Val) n.3341A>T c.2387A>T (p.Asp796Val) c.2774A>T (p.Asp925Val) c.2138A>T (p.Asp713Val) c.-802A>T (n.-802A>T) | |
| 5 | g.177211594T>A | CA362322708 | NSD1 | c.2322T>A (p.Asp774Glu) n.612+7302T>A n.2778T>A c.2886T>A (p.Asp962Glu) n.2592T>A c.3195T>A (p.Asp1065Glu) n.3342T>A c.2388T>A (p.Asp796Glu) c.2775T>A (p.Asp925Glu) c.2139T>A (p.Asp713Glu) c.-801T>A (n.-801T>A) | |
| 5 | g.177211594T>C | CA447960817 | NSD1 | c.2322T>C (p.Asp774=) n.612+7302T>C n.2778T>C c.2886T>C (p.Asp962=) n.2592T>C c.3195T>C (p.Asp1065=) n.3342T>C c.2388T>C (p.Asp796=) c.2775T>C (p.Asp925=) c.2139T>C (p.Asp713=) c.-801T>C (n.-801T>C) | |
| 5 | g.177211594T>G | CA362322702 | NSD1 | c.2322T>G (p.Asp774Glu) n.612+7302T>G n.2778T>G c.2886T>G (p.Asp962Glu) n.2592T>G c.3195T>G (p.Asp1065Glu) n.3342T>G c.2388T>G (p.Asp796Glu) c.2775T>G (p.Asp925Glu) c.2139T>G (p.Asp713Glu) c.-801T>G (n.-801T>G) | |
| 5 | g.177211595G>A | CA362322712 | NSD1 | c.2323G>A (p.Ala775Thr) n.612+7303G>A n.2779G>A c.2887G>A (p.Ala963Thr) n.2593G>A c.3196G>A (p.Ala1066Thr) n.3343G>A c.2389G>A (p.Ala797Thr) c.2776G>A (p.Ala926Thr) c.2140G>A (p.Ala714Thr) c.-800G>A (n.-800G>A) | |
| 5 | g.177211595G>C | CA362322714 | NSD1 | c.2323G>C (p.Ala775Pro) n.612+7303G>C n.2779G>C c.2887G>C (p.Ala963Pro) n.2593G>C c.3196G>C (p.Ala1066Pro) n.3343G>C c.2389G>C (p.Ala797Pro) c.2776G>C (p.Ala926Pro) c.2140G>C (p.Ala714Pro) c.-800G>C (n.-800G>C) | |
| 5 | g.177211595G>T | CA362322716 | NSD1 | c.2323G>T (p.Ala775Ser) n.612+7303G>T n.2779G>T c.2887G>T (p.Ala963Ser) n.2593G>T c.3196G>T (p.Ala1066Ser) n.3343G>T c.2389G>T (p.Ala797Ser) c.2776G>T (p.Ala926Ser) c.2140G>T (p.Ala714Ser) c.-800G>T (n.-800G>T) | |
| 5 | g.177211596del | CA2695202830 | NSD1 | c.2324del (p.Ala775ValfsTer13) n.612+7304del n.2780del c.2888del (p.Ala963ValfsTer13) n.2594del c.3197del (p.Ala1066ValfsTer13) n.3344del c.2390del (p.Ala797ValfsTer13) c.2777del (p.Ala926ValfsTer13) c.2141del (p.Ala714ValfsTer13) c.-799del (n.-799del) | |
| 5 | g.177211596C>A | CA362322720 | NSD1 | c.2324C>A (p.Ala775Asp) n.612+7304C>A n.2780C>A c.2888C>A (p.Ala963Asp) n.2594C>A c.3197C>A (p.Ala1066Asp) n.3344C>A c.2390C>A (p.Ala797Asp) c.2777C>A (p.Ala926Asp) c.2141C>A (p.Ala714Asp) c.-799C>A (n.-799C>A) | dbSNP |
| 5 | g.177211596C= | CA1603478386 | NSD1 | c.2324C= (p.Ala775=) n.612+7304C= n.2780C= c.2888C= (p.Ala963=) n.2594C= c.3197C= (p.Ala1066=) n.3344C= c.2390C= (p.Ala797=) c.2777C= (p.Ala926=) c.2141C= (p.Ala714=) c.-799C= (n.-799C=) | |
| 5 | g.177211596C>G | CA362322728 | NSD1 | c.2324C>G (p.Ala775Gly) n.612+7304C>G n.2780C>G c.2888C>G (p.Ala963Gly) n.2594C>G c.3197C>G (p.Ala1066Gly) n.3344C>G c.2390C>G (p.Ala797Gly) c.2777C>G (p.Ala926Gly) c.2141C>G (p.Ala714Gly) c.-799C>G (n.-799C>G) | ClinVar gnomAD v4 |
| 5 | g.177211596C>T | CA362322732 | NSD1 | c.2324C>T (p.Ala775Val) n.612+7304C>T n.2780C>T c.2888C>T (p.Ala963Val) n.2594C>T c.3197C>T (p.Ala1066Val) n.3344C>T c.2390C>T (p.Ala797Val) c.2777C>T (p.Ala926Val) c.2141C>T (p.Ala714Val) c.-799C>T (n.-799C>T) | dbSNP |
| 5 | g.177211597T>A | CA447960824 | NSD1 | c.2325T>A (p.Ala775=) n.612+7305T>A n.2781T>A c.2889T>A (p.Ala963=) n.2595T>A c.3198T>A (p.Ala1066=) n.3345T>A c.2391T>A (p.Ala797=) c.2778T>A (p.Ala926=) c.2142T>A (p.Ala714=) c.-798T>A (n.-798T>A) | |
| 5 | g.177211597T>C | CA447960825 | NSD1 | c.2325T>C (p.Ala775=) n.612+7305T>C n.2781T>C c.2889T>C (p.Ala963=) n.2595T>C c.3198T>C (p.Ala1066=) n.3345T>C c.2391T>C (p.Ala797=) c.2778T>C (p.Ala926=) c.2142T>C (p.Ala714=) c.-798T>C (n.-798T>C) | |
| 5 | g.177211597T>G | CA447960827 | NSD1 | c.2325T>G (p.Ala775=) n.612+7305T>G n.2781T>G c.2889T>G (p.Ala963=) n.2595T>G c.3198T>G (p.Ala1066=) n.3345T>G c.2391T>G (p.Ala797=) c.2778T>G (p.Ala926=) c.2142T>G (p.Ala714=) c.-798T>G (n.-798T>G) | dbSNP |
| 5 | g.177211597T= | CA1603478391 | NSD1 | c.2325T= (p.Ala775=) n.612+7305T= n.2781T= c.2889T= (p.Ala963=) n.2595T= c.3198T= (p.Ala1066=) n.3345T= c.2391T= (p.Ala797=) c.2778T= (p.Ala926=) c.2142T= (p.Ala714=) c.-798T= (n.-798T=) | |
| 5 | g.177211598G>A | CA362322734 | NSD1 | c.2326G>A (p.Val776Ile) n.612+7306G>A n.2782G>A c.2890G>A (p.Val964Ile) n.2596G>A c.3199G>A (p.Val1067Ile) n.3346G>A c.2392G>A (p.Val798Ile) c.2779G>A (p.Val927Ile) c.2143G>A (p.Val715Ile) c.-797G>A (n.-797G>A) | dbSNP |
| 5 | g.177211598G>C | CA362322740 | NSD1 | c.2326G>C (p.Val776Leu) n.612+7306G>C n.2782G>C c.2890G>C (p.Val964Leu) n.2596G>C c.3199G>C (p.Val1067Leu) n.3346G>C c.2392G>C (p.Val798Leu) c.2779G>C (p.Val927Leu) c.2143G>C (p.Val715Leu) c.-797G>C (n.-797G>C) | gnomAD v4 |
| 5 | g.177211598G>T | CA362322742 | NSD1 | c.2326G>T (p.Val776Leu) n.612+7306G>T n.2782G>T c.2890G>T (p.Val964Leu) n.2596G>T c.3199G>T (p.Val1067Leu) n.3346G>T c.2392G>T (p.Val798Leu) c.2779G>T (p.Val927Leu) c.2143G>T (p.Val715Leu) c.-797G>T (n.-797G>T) | |
| 5 | g.177211599T>A | CA362322748 | NSD1 | c.2327T>A (p.Val776Glu) n.612+7307T>A n.2783T>A c.2891T>A (p.Val964Glu) n.2597T>A c.3200T>A (p.Val1067Glu) n.3347T>A c.2393T>A (p.Val798Glu) c.2780T>A (p.Val927Glu) c.2144T>A (p.Val715Glu) c.-796T>A (n.-796T>A) | dbSNP |
| 5 | g.177211599T>C | CA362322752 | NSD1 | c.2327T>C (p.Val776Ala) n.612+7307T>C n.2783T>C c.2891T>C (p.Val964Ala) n.2597T>C c.3200T>C (p.Val1067Ala) n.3347T>C c.2393T>C (p.Val798Ala) c.2780T>C (p.Val927Ala) c.2144T>C (p.Val715Ala) c.-796T>C (n.-796T>C) | |
| 5 | g.177211599T>G | CA362322756 | NSD1 | c.2327T>G (p.Val776Gly) n.612+7307T>G n.2783T>G c.2891T>G (p.Val964Gly) n.2597T>G c.3200T>G (p.Val1067Gly) n.3347T>G c.2393T>G (p.Val798Gly) c.2780T>G (p.Val927Gly) c.2144T>G (p.Val715Gly) c.-796T>G (n.-796T>G) | |
| 5 | g.177211600A= | CA1603478399 | NSD1 | c.2328A= (p.Val776=) n.612+7308A= n.2784A= c.2892A= (p.Val964=) n.2598A= c.3201A= (p.Val1067=) n.3348A= c.2394A= (p.Val798=) c.2781A= (p.Val927=) c.2145A= (p.Val715=) c.-795A= (n.-795A=) | |
| 5 | g.177211600A>C | CA447960833 | NSD1 | c.2328A>C (p.Val776=) n.612+7308A>C n.2784A>C c.2892A>C (p.Val964=) n.2598A>C c.3201A>C (p.Val1067=) n.3348A>C c.2394A>C (p.Val798=) c.2781A>C (p.Val927=) c.2145A>C (p.Val715=) c.-795A>C (n.-795A>C) | |
| 5 | g.177211600A>G | CA3577395 | NSD1 | c.2328A>G (p.Val776=) n.612+7308A>G n.2784A>G c.2892A>G (p.Val964=) n.2598A>G c.3201A>G (p.Val1067=) n.3348A>G c.2394A>G (p.Val798=) c.2781A>G (p.Val927=) c.2145A>G (p.Val715=) c.-795A>G (n.-795A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211600A>T | CA447960836 | NSD1 | c.2328A>T (p.Val776=) n.612+7308A>T n.2784A>T c.2892A>T (p.Val964=) n.2598A>T c.3201A>T (p.Val1067=) n.3348A>T c.2394A>T (p.Val798=) c.2781A>T (p.Val927=) c.2145A>T (p.Val715=) c.-795A>T (n.-795A>T) | |
| 5 | g.177211601C>A | CA362322766 | NSD1 | c.2329C>A (p.Leu777Met) n.612+7309C>A n.2785C>A c.2893C>A (p.Leu965Met) n.2599C>A c.3202C>A (p.Leu1068Met) n.3349C>A c.2395C>A (p.Leu799Met) c.2782C>A (p.Leu928Met) c.2146C>A (p.Leu716Met) c.-794C>A (n.-794C>A) | |
| 5 | g.177211601C>G | CA362322764 | NSD1 | c.2329C>G (p.Leu777Val) n.612+7309C>G n.2785C>G c.2893C>G (p.Leu965Val) n.2599C>G c.3202C>G (p.Leu1068Val) n.3349C>G c.2395C>G (p.Leu799Val) c.2782C>G (p.Leu928Val) c.2146C>G (p.Leu716Val) c.-794C>G (n.-794C>G) | |
| 5 | g.177211601C>T | CA447960840 | NSD1 | c.2329C>T (p.Leu777=) n.612+7309C>T n.2785C>T c.2893C>T (p.Leu965=) n.2599C>T c.3202C>T (p.Leu1068=) n.3349C>T c.2395C>T (p.Leu799=) c.2782C>T (p.Leu928=) c.2146C>T (p.Leu716=) c.-794C>T (n.-794C>T) | dbSNP |
| 5 | g.177211602T>A | CA362322769 | NSD1 | c.2330T>A (p.Leu777Gln) n.612+7310T>A n.2786T>A c.2894T>A (p.Leu965Gln) n.2600T>A c.3203T>A (p.Leu1068Gln) n.3350T>A c.2396T>A (p.Leu799Gln) c.2783T>A (p.Leu928Gln) c.2147T>A (p.Leu716Gln) c.-793T>A (n.-793T>A) | |
| 5 | g.177211602T>C | CA362322773 | NSD1 | c.2330T>C (p.Leu777Pro) n.612+7310T>C n.2786T>C c.2894T>C (p.Leu965Pro) n.2600T>C c.3203T>C (p.Leu1068Pro) n.3350T>C c.2396T>C (p.Leu799Pro) c.2783T>C (p.Leu928Pro) c.2147T>C (p.Leu716Pro) c.-793T>C (n.-793T>C) | |
| 5 | g.177211602T>G | CA362322774 | NSD1 | c.2330T>G (p.Leu777Arg) n.612+7310T>G n.2786T>G c.2894T>G (p.Leu965Arg) n.2600T>G c.3203T>G (p.Leu1068Arg) n.3350T>G c.2396T>G (p.Leu799Arg) c.2783T>G (p.Leu928Arg) c.2147T>G (p.Leu716Arg) c.-793T>G (n.-793T>G) | gnomAD v4 |
| 5 | g.177211603G>A | CA447960846 | NSD1 | c.2331G>A (p.Leu777=) n.612+7311G>A n.2787G>A c.2895G>A (p.Leu965=) n.2601G>A c.3204G>A (p.Leu1068=) n.3351G>A c.2397G>A (p.Leu799=) c.2784G>A (p.Leu928=) c.2148G>A (p.Leu716=) c.-792G>A (n.-792G>A) | dbSNP |
| 5 | g.177211603G>C | CA447960847 | NSD1 | c.2331G>C (p.Leu777=) n.612+7311G>C n.2787G>C c.2895G>C (p.Leu965=) n.2601G>C c.3204G>C (p.Leu1068=) n.3351G>C c.2397G>C (p.Leu799=) c.2784G>C (p.Leu928=) c.2148G>C (p.Leu716=) c.-792G>C (n.-792G>C) | |
| 5 | g.177211603G= | CA1603478403 | NSD1 | c.2331G= (p.Leu777=) n.612+7311G= n.2787G= c.2895G= (p.Leu965=) n.2601G= c.3204G= (p.Leu1068=) n.3351G= c.2397G= (p.Leu799=) c.2784G= (p.Leu928=) c.2148G= (p.Leu716=) c.-792G= (n.-792G=) | |
| 5 | g.177211603G>T | CA447960848 | NSD1 | c.2331G>T (p.Leu777=) n.612+7311G>T n.2787G>T c.2895G>T (p.Leu965=) n.2601G>T c.3204G>T (p.Leu1068=) n.3351G>T c.2397G>T (p.Leu799=) c.2784G>T (p.Leu928=) c.2148G>T (p.Leu716=) c.-792G>T (n.-792G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177211604C>A | CA362322775 | NSD1 | c.2332C>A (p.Gln778Lys) n.612+7312C>A n.2788C>A c.2896C>A (p.Gln966Lys) n.2602C>A c.3205C>A (p.Gln1069Lys) n.3352C>A c.2398C>A (p.Gln800Lys) c.2785C>A (p.Gln929Lys) c.2149C>A (p.Gln717Lys) c.-791C>A (n.-791C>A) | |
| 5 | g.177211604C>G | CA362322777 | NSD1 | c.2332C>G (p.Gln778Glu) n.612+7312C>G n.2788C>G c.2896C>G (p.Gln966Glu) n.2602C>G c.3205C>G (p.Gln1069Glu) n.3352C>G c.2398C>G (p.Gln800Glu) c.2785C>G (p.Gln929Glu) c.2149C>G (p.Gln717Glu) c.-791C>G (n.-791C>G) | dbSNP |
| 5 | g.177211604C>T | CA362322779 | NSD1 | c.2332C>T (p.Gln778Ter) n.612+7312C>T n.2788C>T c.2896C>T (p.Gln966Ter) n.2602C>T c.3205C>T (p.Gln1069Ter) n.3352C>T c.2398C>T (p.Gln800Ter) c.2785C>T (p.Gln929Ter) c.2149C>T (p.Gln717Ter) c.-791C>T (n.-791C>T) | COSMIC COSMIC |
| 5 | g.177211605A>C | CA362322791 | NSD1 | c.2333A>C (p.Gln778Pro) n.612+7313A>C n.2789A>C c.2897A>C (p.Gln966Pro) n.2603A>C c.3206A>C (p.Gln1069Pro) n.3353A>C c.2399A>C (p.Gln800Pro) c.2786A>C (p.Gln929Pro) c.2150A>C (p.Gln717Pro) c.-790A>C (n.-790A>C) | |
| 5 | g.177211605A>G | CA362322784 | NSD1 | c.2333A>G (p.Gln778Arg) n.612+7313A>G n.2789A>G c.2897A>G (p.Gln966Arg) n.2603A>G c.3206A>G (p.Gln1069Arg) n.3353A>G c.2399A>G (p.Gln800Arg) c.2786A>G (p.Gln929Arg) c.2150A>G (p.Gln717Arg) c.-790A>G (n.-790A>G) | gnomAD v4 |
| 5 | g.177211605A>T | CA362322789 | NSD1 | c.2333A>T (p.Gln778Leu) n.612+7313A>T n.2789A>T c.2897A>T (p.Gln966Leu) n.2603A>T c.3206A>T (p.Gln1069Leu) n.3353A>T c.2399A>T (p.Gln800Leu) c.2786A>T (p.Gln929Leu) c.2150A>T (p.Gln717Leu) c.-790A>T (n.-790A>T) | |
| 5 | g.177211606G>A | CA447960855 | NSD1 | c.2334G>A (p.Gln778=) n.612+7314G>A n.2790G>A c.2898G>A (p.Gln966=) n.2604G>A c.3207G>A (p.Gln1069=) n.3354G>A c.2400G>A (p.Gln800=) c.2787G>A (p.Gln929=) c.2151G>A (p.Gln717=) c.-789G>A (n.-789G>A) | gnomAD v4 |
| 5 | g.177211606G>C | CA362322794 | NSD1 | c.2334G>C (p.Gln778His) n.612+7314G>C n.2790G>C c.2898G>C (p.Gln966His) n.2604G>C c.3207G>C (p.Gln1069His) n.3354G>C c.2400G>C (p.Gln800His) c.2787G>C (p.Gln929His) c.2151G>C (p.Gln717His) c.-789G>C (n.-789G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177211606G= | CA1603478405 | NSD1 | c.2334G= (p.Gln778=) n.612+7314G= n.2790G= c.2898G= (p.Gln966=) n.2604G= c.3207G= (p.Gln1069=) n.3354G= c.2400G= (p.Gln800=) c.2787G= (p.Gln929=) c.2151G= (p.Gln717=) c.-789G= (n.-789G=) | |
| 5 | g.177211606G>T | CA362322797 | NSD1 | c.2334G>T (p.Gln778His) n.612+7314G>T n.2790G>T c.2898G>T (p.Gln966His) n.2604G>T c.3207G>T (p.Gln1069His) n.3354G>T c.2400G>T (p.Gln800His) c.2787G>T (p.Gln929His) c.2151G>T (p.Gln717His) c.-789G>T (n.-789G>T) | |
| 5 | g.177211607G>A | CA362322804 | NSD1 | c.2335G>A (p.Gly779Arg) n.612+7315G>A n.2791G>A c.2899G>A (p.Gly967Arg) n.2605G>A c.3208G>A (p.Gly1070Arg) n.3355G>A c.2401G>A (p.Gly801Arg) c.2788G>A (p.Gly930Arg) c.2152G>A (p.Gly718Arg) c.-788G>A (n.-788G>A) | dbSNP |
| 5 | g.177211607G>C | CA362322806 | NSD1 | c.2335G>C (p.Gly779Arg) n.612+7315G>C n.2791G>C c.2899G>C (p.Gly967Arg) n.2605G>C c.3208G>C (p.Gly1070Arg) n.3355G>C c.2401G>C (p.Gly801Arg) c.2788G>C (p.Gly930Arg) c.2152G>C (p.Gly718Arg) c.-788G>C (n.-788G>C) | |
| 5 | g.177211607G>T | CA362322809 | NSD1 | c.2335G>T (p.Gly779Ter) n.612+7315G>T n.2791G>T c.2899G>T (p.Gly967Ter) n.2605G>T c.3208G>T (p.Gly1070Ter) n.3355G>T c.2401G>T (p.Gly801Ter) c.2788G>T (p.Gly930Ter) c.2152G>T (p.Gly718Ter) c.-788G>T (n.-788G>T) | |
| 5 | g.177211608G>A | CA362322820 | NSD1 | c.2336G>A (p.Gly779Glu) n.612+7316G>A n.2792G>A c.2900G>A (p.Gly967Glu) n.2606G>A c.3209G>A (p.Gly1070Glu) n.3356G>A c.2402G>A (p.Gly801Glu) c.2789G>A (p.Gly930Glu) c.2153G>A (p.Gly718Glu) c.-787G>A (n.-787G>A) | dbSNP |
| 5 | g.177211608G>C | CA362322816 | NSD1 | c.2336G>C (p.Gly779Ala) n.612+7316G>C n.2792G>C c.2900G>C (p.Gly967Ala) n.2606G>C c.3209G>C (p.Gly1070Ala) n.3356G>C c.2402G>C (p.Gly801Ala) c.2789G>C (p.Gly930Ala) c.2153G>C (p.Gly718Ala) c.-787G>C (n.-787G>C) | |
| 5 | g.177211608G>T | CA362322817 | NSD1 | c.2336G>T (p.Gly779Val) n.612+7316G>T n.2792G>T c.2900G>T (p.Gly967Val) n.2606G>T c.3209G>T (p.Gly1070Val) n.3356G>T c.2402G>T (p.Gly801Val) c.2789G>T (p.Gly930Val) c.2153G>T (p.Gly718Val) c.-787G>T (n.-787G>T) | |
| 5 | g.177211609A>C | CA447960862 | NSD1 | c.2337A>C (p.Gly779=) n.612+7317A>C n.2793A>C c.2901A>C (p.Gly967=) n.2607A>C c.3210A>C (p.Gly1070=) n.3357A>C c.2403A>C (p.Gly801=) c.2790A>C (p.Gly930=) c.2154A>C (p.Gly718=) c.-786A>C (n.-786A>C) | |
| 5 | g.177211609A>G | CA447960863 | NSD1 | c.2337A>G (p.Gly779=) n.612+7317A>G n.2793A>G c.2901A>G (p.Gly967=) n.2607A>G c.3210A>G (p.Gly1070=) n.3357A>G c.2403A>G (p.Gly801=) c.2790A>G (p.Gly930=) c.2154A>G (p.Gly718=) c.-786A>G (n.-786A>G) | |
| 5 | g.177211609A>T | CA447960866 | NSD1 | c.2337A>T (p.Gly779=) n.612+7317A>T n.2793A>T c.2901A>T (p.Gly967=) n.2607A>T c.3210A>T (p.Gly1070=) n.3357A>T c.2403A>T (p.Gly801=) c.2790A>T (p.Gly930=) c.2154A>T (p.Gly718=) c.-786A>T (n.-786A>T) | |
| 5 | g.177211610G>A | CA362322825 | NSD1 | c.2338G>A (p.Asp780Asn) n.612+7318G>A n.2794G>A c.2902G>A (p.Asp968Asn) n.2608G>A c.3211G>A (p.Asp1071Asn) n.3358G>A c.2404G>A (p.Asp802Asn) c.2791G>A (p.Asp931Asn) c.2155G>A (p.Asp719Asn) c.-785G>A (n.-785G>A) | dbSNP |
| 5 | g.177211610G>C | CA362322826 | NSD1 | c.2338G>C (p.Asp780His) n.612+7318G>C n.2794G>C c.2902G>C (p.Asp968His) n.2608G>C c.3211G>C (p.Asp1071His) n.3358G>C c.2404G>C (p.Asp802His) c.2791G>C (p.Asp931His) c.2155G>C (p.Asp719His) c.-785G>C (n.-785G>C) | |
| 5 | g.177211610G>T | CA362322828 | NSD1 | c.2338G>T (p.Asp780Tyr) n.612+7318G>T n.2794G>T c.2902G>T (p.Asp968Tyr) n.2608G>T c.3211G>T (p.Asp1071Tyr) n.3358G>T c.2404G>T (p.Asp802Tyr) c.2791G>T (p.Asp931Tyr) c.2155G>T (p.Asp719Tyr) c.-785G>T (n.-785G>T) | |
| 5 | g.177211611A>C | CA362322832 | NSD1 | c.2339A>C (p.Asp780Ala) n.612+7319A>C n.2795A>C c.2903A>C (p.Asp968Ala) n.2609A>C c.3212A>C (p.Asp1071Ala) n.3359A>C c.2405A>C (p.Asp802Ala) c.2792A>C (p.Asp931Ala) c.2156A>C (p.Asp719Ala) c.-784A>C (n.-784A>C) | |
| 5 | g.177211611A>G | CA362322837 | NSD1 | c.2339A>G (p.Asp780Gly) n.612+7319A>G n.2795A>G c.2903A>G (p.Asp968Gly) n.2609A>G c.3212A>G (p.Asp1071Gly) n.3359A>G c.2405A>G (p.Asp802Gly) c.2792A>G (p.Asp931Gly) c.2156A>G (p.Asp719Gly) c.-784A>G (n.-784A>G) | |
| 5 | g.177211611A>T | CA362322840 | NSD1 | c.2339A>T (p.Asp780Val) n.612+7319A>T n.2795A>T c.2903A>T (p.Asp968Val) n.2609A>T c.3212A>T (p.Asp1071Val) n.3359A>T c.2405A>T (p.Asp802Val) c.2792A>T (p.Asp931Val) c.2156A>T (p.Asp719Val) c.-784A>T (n.-784A>T) | |
| 5 | g.177211612C>A | CA362322843 | NSD1 | c.2340C>A (p.Asp780Glu) n.612+7320C>A n.2796C>A c.2904C>A (p.Asp968Glu) n.2610C>A c.3213C>A (p.Asp1071Glu) n.3360C>A c.2406C>A (p.Asp802Glu) c.2793C>A (p.Asp931Glu) c.2157C>A (p.Asp719Glu) c.-783C>A (n.-783C>A) | dbSNP |
| 5 | g.177211612C= | CA1603478407 | NSD1 | c.2340C= (p.Asp780=) n.612+7320C= n.2796C= c.2904C= (p.Asp968=) n.2610C= c.3213C= (p.Asp1071=) n.3360C= c.2406C= (p.Asp802=) c.2793C= (p.Asp931=) c.2157C= (p.Asp719=) c.-783C= (n.-783C=) | |
| 5 | g.177211612C>G | CA362322845 | NSD1 | c.2340C>G (p.Asp780Glu) n.612+7320C>G n.2796C>G c.2904C>G (p.Asp968Glu) n.2610C>G c.3213C>G (p.Asp1071Glu) n.3360C>G c.2406C>G (p.Asp802Glu) c.2793C>G (p.Asp931Glu) c.2157C>G (p.Asp719Glu) c.-783C>G (n.-783C>G) | dbSNP |
| 5 | g.177211612C>T | CA447960872 | NSD1 | c.2340C>T (p.Asp780=) n.612+7320C>T n.2796C>T c.2904C>T (p.Asp968=) n.2610C>T c.3213C>T (p.Asp1071=) n.3360C>T c.2406C>T (p.Asp802=) c.2793C>T (p.Asp931=) c.2157C>T (p.Asp719=) c.-783C>T (n.-783C>T) | dbSNP |
| 5 | g.177211613C>A | CA447960873 | NSD1 | c.2341C>A (p.Arg781=) n.612+7321C>A n.2797C>A c.2905C>A (p.Arg969=) n.2611C>A c.3214C>A (p.Arg1072=) n.3361C>A c.2407C>A (p.Arg803=) c.2794C>A (p.Arg932=) c.2158C>A (p.Arg720=) c.-782C>A (n.-782C>A) | |
| 5 | g.177211613C= | CA1603478411 | NSD1 | c.2341C= (p.Arg781=) n.612+7321C= n.2797C= c.2905C= (p.Arg969=) n.2611C= c.3214C= (p.Arg1072=) n.3361C= c.2407C= (p.Arg803=) c.2794C= (p.Arg932=) c.2158C= (p.Arg720=) c.-782C= (n.-782C=) | |
| 5 | g.177211613C>G | CA362322851 | NSD1 | c.2341C>G (p.Arg781Gly) n.612+7321C>G n.2797C>G c.2905C>G (p.Arg969Gly) n.2611C>G c.3214C>G (p.Arg1072Gly) n.3361C>G c.2407C>G (p.Arg803Gly) c.2794C>G (p.Arg932Gly) c.2158C>G (p.Arg720Gly) c.-782C>G (n.-782C>G) | dbSNP |
| 5 | g.177211613C>T | CA294846 | NSD1 | c.2341C>T (p.Arg781Ter) n.612+7321C>T n.2797C>T c.2905C>T (p.Arg969Ter) n.2611C>T c.3214C>T (p.Arg1072Ter) n.3361C>T c.2407C>T (p.Arg803Ter) c.2794C>T (p.Arg932Ter) c.2158C>T (p.Arg720Ter) c.-782C>T (n.-782C>T) | ClinVar dbSNP |
| 5 | g.177211614G>A | CA3577396 | NSD1 | c.2342G>A (p.Arg781Gln) n.612+7322G>A n.2798G>A c.2906G>A (p.Arg969Gln) n.2612G>A c.3215G>A (p.Arg1072Gln) n.3362G>A c.2408G>A (p.Arg803Gln) c.2795G>A (p.Arg932Gln) c.2159G>A (p.Arg720Gln) c.-781G>A (n.-781G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211614G>C | CA362322860 | NSD1 | c.2342G>C (p.Arg781Pro) n.612+7322G>C n.2798G>C c.2906G>C (p.Arg969Pro) n.2612G>C c.3215G>C (p.Arg1072Pro) n.3362G>C c.2408G>C (p.Arg803Pro) c.2795G>C (p.Arg932Pro) c.2159G>C (p.Arg720Pro) c.-781G>C (n.-781G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177211614G= | CA1603478419 | NSD1 | c.2342G= (p.Arg781=) n.612+7322G= n.2798G= c.2906G= (p.Arg969=) n.2612G= c.3215G= (p.Arg1072=) n.3362G= c.2408G= (p.Arg803=) c.2795G= (p.Arg932=) c.2159G= (p.Arg720=) c.-781G= (n.-781G=) | |
| 5 | g.177211614G>T | CA362322862 | NSD1 | c.2342G>T (p.Arg781Leu) n.612+7322G>T n.2798G>T c.2906G>T (p.Arg969Leu) n.2612G>T c.3215G>T (p.Arg1072Leu) n.3362G>T c.2408G>T (p.Arg803Leu) c.2795G>T (p.Arg932Leu) c.2159G>T (p.Arg720Leu) c.-781G>T (n.-781G>T) | |
| 5 | g.177211615A>C | CA447960879 | NSD1 | c.2343A>C (p.Arg781=) n.612+7323A>C n.2799A>C c.2907A>C (p.Arg969=) n.2613A>C c.3216A>C (p.Arg1072=) n.3363A>C c.2409A>C (p.Arg803=) c.2796A>C (p.Arg932=) c.2160A>C (p.Arg720=) c.-780A>C (n.-780A>C) | |
| 5 | g.177211615A>G | CA447960881 | NSD1 | c.2343A>G (p.Arg781=) n.612+7323A>G n.2799A>G c.2907A>G (p.Arg969=) n.2613A>G c.3216A>G (p.Arg1072=) n.3363A>G c.2409A>G (p.Arg803=) c.2796A>G (p.Arg932=) c.2160A>G (p.Arg720=) c.-780A>G (n.-780A>G) | |
| 5 | g.177211615A>T | CA447960884 | NSD1 | c.2343A>T (p.Arg781=) n.612+7323A>T n.2799A>T c.2907A>T (p.Arg969=) n.2613A>T c.3216A>T (p.Arg1072=) n.3363A>T c.2409A>T (p.Arg803=) c.2796A>T (p.Arg932=) c.2160A>T (p.Arg720=) c.-780A>T (n.-780A>T) | |
| 5 | g.177211616G>A | CA3577397 | NSD1 | c.2344G>A (p.Glu782Lys) n.612+7324G>A n.2800G>A c.2908G>A (p.Glu970Lys) n.2614G>A c.3217G>A (p.Glu1073Lys) n.3364G>A c.2410G>A (p.Glu804Lys) c.2797G>A (p.Glu933Lys) c.2161G>A (p.Glu721Lys) c.-779G>A (n.-779G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177211616G>C | CA362322872 | NSD1 | c.2344G>C (p.Glu782Gln) n.612+7324G>C n.2800G>C c.2908G>C (p.Glu970Gln) n.2614G>C c.3217G>C (p.Glu1073Gln) n.3364G>C c.2410G>C (p.Glu804Gln) c.2797G>C (p.Glu933Gln) c.2161G>C (p.Glu721Gln) c.-779G>C (n.-779G>C) | |
| 5 | g.177211616G= | CA1603478424 | NSD1 | c.2344G= (p.Glu782=) n.612+7324G= n.2800G= c.2908G= (p.Glu970=) n.2614G= c.3217G= (p.Glu1073=) n.3364G= c.2410G= (p.Glu804=) c.2797G= (p.Glu933=) c.2161G= (p.Glu721=) c.-779G= (n.-779G=) | |
| 5 | g.177211616G>T | CA362322868 | NSD1 | c.2344G>T (p.Glu782Ter) n.612+7324G>T n.2800G>T c.2908G>T (p.Glu970Ter) n.2614G>T c.3217G>T (p.Glu1073Ter) n.3364G>T c.2410G>T (p.Glu804Ter) c.2797G>T (p.Glu933Ter) c.2161G>T (p.Glu721Ter) c.-779G>T (n.-779G>T) | |
| 5 | g.177211617A>C | CA362322877 | NSD1 | c.2345A>C (p.Glu782Ala) n.612+7325A>C n.2801A>C c.2909A>C (p.Glu970Ala) n.2615A>C c.3218A>C (p.Glu1073Ala) n.3365A>C c.2411A>C (p.Glu804Ala) c.2798A>C (p.Glu933Ala) c.2162A>C (p.Glu721Ala) c.-778A>C (n.-778A>C) | |
| 5 | g.177211617A>G | CA362322884 | NSD1 | c.2345A>G (p.Glu782Gly) n.612+7325A>G n.2801A>G c.2909A>G (p.Glu970Gly) n.2615A>G c.3218A>G (p.Glu1073Gly) n.3365A>G c.2411A>G (p.Glu804Gly) c.2798A>G (p.Glu933Gly) c.2162A>G (p.Glu721Gly) c.-778A>G (n.-778A>G) | |
| 5 | g.177211617A>T | CA362322880 | NSD1 | c.2345A>T (p.Glu782Val) n.612+7325A>T n.2801A>T c.2909A>T (p.Glu970Val) n.2615A>T c.3218A>T (p.Glu1073Val) n.3365A>T c.2411A>T (p.Glu804Val) c.2798A>T (p.Glu933Val) c.2162A>T (p.Glu721Val) c.-778A>T (n.-778A>T) | |
| 5 | g.177211618A= | CA1603478425 | NSD1 | c.2346A= (p.Glu782=) n.612+7326A= n.2802A= c.2910A= (p.Glu970=) n.2616A= c.3219A= (p.Glu1073=) n.3366A= c.2412A= (p.Glu804=) c.2799A= (p.Glu933=) c.2163A= (p.Glu721=) c.-777A= (n.-777A=) | |
| 5 | g.177211618A>C | CA362322889 | NSD1 | c.2346A>C (p.Glu782Asp) n.612+7326A>C n.2802A>C c.2910A>C (p.Glu970Asp) n.2616A>C c.3219A>C (p.Glu1073Asp) n.3366A>C c.2412A>C (p.Glu804Asp) c.2799A>C (p.Glu933Asp) c.2163A>C (p.Glu721Asp) c.-777A>C (n.-777A>C) | |
| 5 | g.177211618A>G | CA3577398 | NSD1 | c.2346A>G (p.Glu782=) n.612+7326A>G n.2802A>G c.2910A>G (p.Glu970=) n.2616A>G c.3219A>G (p.Glu1073=) n.3366A>G c.2412A>G (p.Glu804=) c.2799A>G (p.Glu933=) c.2163A>G (p.Glu721=) c.-777A>G (n.-777A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177211618A>T | CA362322893 | NSD1 | c.2346A>T (p.Glu782Asp) n.612+7326A>T n.2802A>T c.2910A>T (p.Glu970Asp) n.2616A>T c.3219A>T (p.Glu1073Asp) n.3366A>T c.2412A>T (p.Glu804Asp) c.2799A>T (p.Glu933Asp) c.2163A>T (p.Glu721Asp) c.-777A>T (n.-777A>T) | |
| 5 | g.177211619C>A | CA362322897 | NSD1 | c.2347C>A (p.Arg783Ser) n.612+7327C>A n.2803C>A c.2911C>A (p.Arg971Ser) n.2617C>A c.3220C>A (p.Arg1074Ser) n.3367C>A c.2413C>A (p.Arg805Ser) c.2800C>A (p.Arg934Ser) c.2164C>A (p.Arg722Ser) c.-776C>A (n.-776C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211619C= | CA1603478430 | NSD1 | c.2347C= (p.Arg783=) n.612+7327C= n.2803C= c.2911C= (p.Arg971=) n.2617C= c.3220C= (p.Arg1074=) n.3367C= c.2413C= (p.Arg805=) c.2800C= (p.Arg934=) c.2164C= (p.Arg722=) c.-776C= (n.-776C=) | |
| 5 | g.177211619C>G | CA362322900 | NSD1 | c.2347C>G (p.Arg783Gly) n.612+7327C>G n.2803C>G c.2911C>G (p.Arg971Gly) n.2617C>G c.3220C>G (p.Arg1074Gly) n.3367C>G c.2413C>G (p.Arg805Gly) c.2800C>G (p.Arg934Gly) c.2164C>G (p.Arg722Gly) c.-776C>G (n.-776C>G) | dbSNP |
| 5 | g.177211619C>T | CA3577399 | NSD1 | c.2347C>T (p.Arg783Cys) n.612+7327C>T n.2803C>T c.2911C>T (p.Arg971Cys) n.2617C>T c.3220C>T (p.Arg1074Cys) n.3367C>T c.2413C>T (p.Arg805Cys) c.2800C>T (p.Arg934Cys) c.2164C>T (p.Arg722Cys) c.-776C>T (n.-776C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177211620G>A | CA3577400 | NSD1 | c.2348G>A (p.Arg783His) n.612+7328G>A n.2804G>A c.2912G>A (p.Arg971His) n.2618G>A c.3221G>A (p.Arg1074His) n.3368G>A c.2414G>A (p.Arg805His) c.2801G>A (p.Arg934His) c.2165G>A (p.Arg722His) c.-775G>A (n.-775G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211620G>C | CA362322906 | NSD1 | c.2348G>C (p.Arg783Pro) n.612+7328G>C n.2804G>C c.2912G>C (p.Arg971Pro) n.2618G>C c.3221G>C (p.Arg1074Pro) n.3368G>C c.2414G>C (p.Arg805Pro) c.2801G>C (p.Arg934Pro) c.2165G>C (p.Arg722Pro) c.-775G>C (n.-775G>C) | |
| 5 | g.177211620G= | CA1603478437 | NSD1 | c.2348G= (p.Arg783=) n.612+7328G= n.2804G= c.2912G= (p.Arg971=) n.2618G= c.3221G= (p.Arg1074=) n.3368G= c.2414G= (p.Arg805=) c.2801G= (p.Arg934=) c.2165G= (p.Arg722=) c.-775G= (n.-775G=) | |
| 5 | g.177211620G>T | CA362322908 | NSD1 | c.2348G>T (p.Arg783Leu) n.612+7328G>T n.2804G>T c.2912G>T (p.Arg971Leu) n.2618G>T c.3221G>T (p.Arg1074Leu) n.3368G>T c.2414G>T (p.Arg805Leu) c.2801G>T (p.Arg934Leu) c.2165G>T (p.Arg722Leu) c.-775G>T (n.-775G>T) | |
| 5 | g.177211621T>A | CA447960891 | NSD1 | c.2349T>A (p.Arg783=) n.612+7329T>A n.2805T>A c.2913T>A (p.Arg971=) n.2619T>A c.3222T>A (p.Arg1074=) n.3369T>A c.2415T>A (p.Arg805=) c.2802T>A (p.Arg934=) c.2166T>A (p.Arg722=) c.-774T>A (n.-774T>A) | |
| 5 | g.177211621T>C | CA447960892 | NSD1 | c.2349T>C (p.Arg783=) n.612+7329T>C n.2805T>C c.2913T>C (p.Arg971=) n.2619T>C c.3222T>C (p.Arg1074=) n.3369T>C c.2415T>C (p.Arg805=) c.2802T>C (p.Arg934=) c.2166T>C (p.Arg722=) c.-774T>C (n.-774T>C) | |
| 5 | g.177211621T>G | CA447960893 | NSD1 | c.2349T>G (p.Arg783=) n.612+7329T>G n.2805T>G c.2913T>G (p.Arg971=) n.2619T>G c.3222T>G (p.Arg1074=) n.3369T>G c.2415T>G (p.Arg805=) c.2802T>G (p.Arg934=) c.2166T>G (p.Arg722=) c.-774T>G (n.-774T>G) | |
| 5 | g.177211622G>A | CA362322909 | NSD1 | c.2350G>A (p.Gly784Arg) n.612+7330G>A n.2806G>A c.2914G>A (p.Gly972Arg) n.2620G>A c.3223G>A (p.Gly1075Arg) n.3370G>A c.2416G>A (p.Gly806Arg) c.2803G>A (p.Gly935Arg) c.2167G>A (p.Gly723Arg) c.-773G>A (n.-773G>A) | |
| 5 | g.177211622G>C | CA362322910 | NSD1 | c.2350G>C (p.Gly784Arg) n.612+7330G>C n.2806G>C c.2914G>C (p.Gly972Arg) n.2620G>C c.3223G>C (p.Gly1075Arg) n.3370G>C c.2416G>C (p.Gly806Arg) c.2803G>C (p.Gly935Arg) c.2167G>C (p.Gly723Arg) c.-773G>C (n.-773G>C) | |
| 5 | g.177211622G>T | CA362322911 | NSD1 | c.2350G>T (p.Gly784Ter) n.612+7330G>T n.2806G>T c.2914G>T (p.Gly972Ter) n.2620G>T c.3223G>T (p.Gly1075Ter) n.3370G>T c.2416G>T (p.Gly806Ter) c.2803G>T (p.Gly935Ter) c.2167G>T (p.Gly723Ter) c.-773G>T (n.-773G>T) | |
| 5 | g.177211623G>A | CA362322919 | NSD1 | c.2351G>A (p.Gly784Glu) n.612+7331G>A n.2807G>A c.2915G>A (p.Gly972Glu) n.2621G>A c.3224G>A (p.Gly1075Glu) n.3371G>A c.2417G>A (p.Gly806Glu) c.2804G>A (p.Gly935Glu) c.2168G>A (p.Gly723Glu) c.-772G>A (n.-772G>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177211623G>C | CA362322913 | NSD1 | c.2351G>C (p.Gly784Ala) n.612+7331G>C n.2807G>C c.2915G>C (p.Gly972Ala) n.2621G>C c.3224G>C (p.Gly1075Ala) n.3371G>C c.2417G>C (p.Gly806Ala) c.2804G>C (p.Gly935Ala) c.2168G>C (p.Gly723Ala) c.-772G>C (n.-772G>C) | |
| 5 | g.177211623G= | CA1603478449 | NSD1 | c.2351G= (p.Gly784=) n.612+7331G= n.2807G= c.2915G= (p.Gly972=) n.2621G= c.3224G= (p.Gly1075=) n.3371G= c.2417G= (p.Gly806=) c.2804G= (p.Gly935=) c.2168G= (p.Gly723=) c.-772G= (n.-772G=) | |
| 5 | g.177211623G>T | CA362322915 | NSD1 | c.2351G>T (p.Gly784Val) n.612+7331G>T n.2807G>T c.2915G>T (p.Gly972Val) n.2621G>T c.3224G>T (p.Gly1075Val) n.3371G>T c.2417G>T (p.Gly806Val) c.2804G>T (p.Gly935Val) c.2168G>T (p.Gly723Val) c.-772G>T (n.-772G>T) | |
| 5 | g.177211624A>C | CA447960896 | NSD1 | c.2352A>C (p.Gly784=) n.612+7332A>C n.2808A>C c.2916A>C (p.Gly972=) n.2622A>C c.3225A>C (p.Gly1075=) n.3372A>C c.2418A>C (p.Gly806=) c.2805A>C (p.Gly935=) c.2169A>C (p.Gly723=) c.-771A>C (n.-771A>C) | |
| 5 | g.177211624A>G | CA447960898 | NSD1 | c.2352A>G (p.Gly784=) n.612+7332A>G n.2808A>G c.2916A>G (p.Gly972=) n.2622A>G c.3225A>G (p.Gly1075=) n.3372A>G c.2418A>G (p.Gly806=) c.2805A>G (p.Gly935=) c.2169A>G (p.Gly723=) c.-771A>G (n.-771A>G) | |
| 5 | g.177211624A>T | CA447960899 | NSD1 | c.2352A>T (p.Gly784=) n.612+7332A>T n.2808A>T c.2916A>T (p.Gly972=) n.2622A>T c.3225A>T (p.Gly1075=) n.3372A>T c.2418A>T (p.Gly806=) c.2805A>T (p.Gly935=) c.2169A>T (p.Gly723=) c.-771A>T (n.-771A>T) | |
| 5 | g.177211625G>A | CA3577401 | NSD1 | c.2353G>A (p.Gly785Ser) n.612+7333G>A n.2809G>A c.2917G>A (p.Gly973Ser) n.2623G>A c.3226G>A (p.Gly1076Ser) n.3373G>A c.2419G>A (p.Gly807Ser) c.2806G>A (p.Gly936Ser) c.2170G>A (p.Gly724Ser) c.-770G>A (n.-770G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211625G>C | CA362322923 | NSD1 | c.2353G>C (p.Gly785Arg) n.612+7333G>C n.2809G>C c.2917G>C (p.Gly973Arg) n.2623G>C c.3226G>C (p.Gly1076Arg) n.3373G>C c.2419G>C (p.Gly807Arg) c.2806G>C (p.Gly936Arg) c.2170G>C (p.Gly724Arg) c.-770G>C (n.-770G>C) | |
| 5 | g.177211625G= | CA1603478481 | NSD1 | c.2353G= (p.Gly785=) n.612+7333G= n.2809G= c.2917G= (p.Gly973=) n.2623G= c.3226G= (p.Gly1076=) n.3373G= c.2419G= (p.Gly807=) c.2806G= (p.Gly936=) c.2170G= (p.Gly724=) c.-770G= (n.-770G=) | |
| 5 | g.177211625G>T | CA362322926 | NSD1 | c.2353G>T (p.Gly785Cys) n.612+7333G>T n.2809G>T c.2917G>T (p.Gly973Cys) n.2623G>T c.3226G>T (p.Gly1076Cys) n.3373G>T c.2419G>T (p.Gly807Cys) c.2806G>T (p.Gly936Cys) c.2170G>T (p.Gly724Cys) c.-770G>T (n.-770G>T) | |
| 5 | g.177211626G>A | CA362322931 | NSD1 | c.2354G>A (p.Gly785Asp) n.612+7334G>A n.2810G>A c.2918G>A (p.Gly973Asp) n.2624G>A c.3227G>A (p.Gly1076Asp) n.3374G>A c.2420G>A (p.Gly807Asp) c.2807G>A (p.Gly936Asp) c.2171G>A (p.Gly724Asp) c.-769G>A (n.-769G>A) | dbSNP gnomAD v4 |
| 5 | g.177211626G>C | CA362322932 | NSD1 | c.2354G>C (p.Gly785Ala) n.612+7334G>C n.2810G>C c.2918G>C (p.Gly973Ala) n.2624G>C c.3227G>C (p.Gly1076Ala) n.3374G>C c.2420G>C (p.Gly807Ala) c.2807G>C (p.Gly936Ala) c.2171G>C (p.Gly724Ala) c.-769G>C (n.-769G>C) | |
| 5 | g.177211626G= | CA1603478483 | NSD1 | c.2354G= (p.Gly785=) n.612+7334G= n.2810G= c.2918G= (p.Gly973=) n.2624G= c.3227G= (p.Gly1076=) n.3374G= c.2420G= (p.Gly807=) c.2807G= (p.Gly936=) c.2171G= (p.Gly724=) c.-769G= (n.-769G=) | |
| 5 | g.177211626G>T | CA362322934 | NSD1 | c.2354G>T (p.Gly785Val) n.612+7334G>T n.2810G>T c.2918G>T (p.Gly973Val) n.2624G>T c.3227G>T (p.Gly1076Val) n.3374G>T c.2420G>T (p.Gly807Val) c.2807G>T (p.Gly936Val) c.2171G>T (p.Gly724Val) c.-769G>T (n.-769G>T) | |
| 5 | g.177211627T>A | CA447960903 | NSD1 | c.2355T>A (p.Gly785=) n.612+7335T>A n.2811T>A c.2919T>A (p.Gly973=) n.2625T>A c.3228T>A (p.Gly1076=) n.3375T>A c.2421T>A (p.Gly807=) c.2808T>A (p.Gly936=) c.2172T>A (p.Gly724=) c.-768T>A (n.-768T>A) | dbSNP |
| 5 | g.177211627T>C | CA447960904 | NSD1 | c.2355T>C (p.Gly785=) n.612+7335T>C n.2811T>C c.2919T>C (p.Gly973=) n.2625T>C c.3228T>C (p.Gly1076=) n.3375T>C c.2421T>C (p.Gly807=) c.2808T>C (p.Gly936=) c.2172T>C (p.Gly724=) c.-768T>C (n.-768T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177211627T>G | CA447960902 | NSD1 | c.2355T>G (p.Gly785=) n.612+7335T>G n.2811T>G c.2919T>G (p.Gly973=) n.2625T>G c.3228T>G (p.Gly1076=) n.3375T>G c.2421T>G (p.Gly807=) c.2808T>G (p.Gly936=) c.2172T>G (p.Gly724=) c.-768T>G (n.-768T>G) | |
| 5 | g.177211627T= | CA1603478488 | NSD1 | c.2355T= (p.Gly785=) n.612+7335T= n.2811T= c.2919T= (p.Gly973=) n.2625T= c.3228T= (p.Gly1076=) n.3375T= c.2421T= (p.Gly807=) c.2808T= (p.Gly936=) c.2172T= (p.Gly724=) c.-768T= (n.-768T=) | |
| 5 | g.177211628T>A | CA362322939 | NSD1 | c.2356T>A (p.Ser786Thr) n.612+7336T>A n.2812T>A c.2920T>A (p.Ser974Thr) n.2626T>A c.3229T>A (p.Ser1077Thr) n.3376T>A c.2422T>A (p.Ser808Thr) c.2809T>A (p.Ser937Thr) c.2173T>A (p.Ser725Thr) c.-767T>A (n.-767T>A) | |
| 5 | g.177211628T>C | CA362322942 | NSD1 | c.2356T>C (p.Ser786Pro) n.612+7336T>C n.2812T>C c.2920T>C (p.Ser974Pro) n.2626T>C c.3229T>C (p.Ser1077Pro) n.3376T>C c.2422T>C (p.Ser808Pro) c.2809T>C (p.Ser937Pro) c.2173T>C (p.Ser725Pro) c.-767T>C (n.-767T>C) | |
| 5 | g.177211628T>G | CA362322945 | NSD1 | c.2356T>G (p.Ser786Ala) n.612+7336T>G n.2812T>G c.2920T>G (p.Ser974Ala) n.2626T>G c.3229T>G (p.Ser1077Ala) n.3376T>G c.2422T>G (p.Ser808Ala) c.2809T>G (p.Ser937Ala) c.2173T>G (p.Ser725Ala) c.-767T>G (n.-767T>G) | |
| 5 | g.177211629C>A | CA362322949 | NSD1 | c.2357C>A (p.Ser786Ter) n.612+7337C>A n.2813C>A c.2921C>A (p.Ser974Ter) n.2627C>A c.3230C>A (p.Ser1077Ter) n.3377C>A c.2423C>A (p.Ser808Ter) c.2810C>A (p.Ser937Ter) c.2174C>A (p.Ser725Ter) c.-766C>A (n.-766C>A) | |
| 5 | g.177211629C= | CA1603478495 | NSD1 | c.2357C= (p.Ser786=) n.612+7337C= n.2813C= c.2921C= (p.Ser974=) n.2627C= c.3230C= (p.Ser1077=) n.3377C= c.2423C= (p.Ser808=) c.2810C= (p.Ser937=) c.2174C= (p.Ser725=) c.-766C= (n.-766C=) | |
| 5 | g.177211629C>G | CA16618171 | NSD1 | c.2357C>G (p.Ser786Ter) n.612+7337C>G n.2813C>G c.2921C>G (p.Ser974Ter) n.2627C>G c.3230C>G (p.Ser1077Ter) n.3377C>G c.2423C>G (p.Ser808Ter) c.2810C>G (p.Ser937Ter) c.2174C>G (p.Ser725Ter) c.-766C>G (n.-766C>G) | ClinVar dbSNP |
| 5 | g.177211629C>T | CA362322953 | NSD1 | c.2357C>T (p.Ser786Leu) n.612+7337C>T n.2813C>T c.2921C>T (p.Ser974Leu) n.2627C>T c.3230C>T (p.Ser1077Leu) n.3377C>T c.2423C>T (p.Ser808Leu) c.2810C>T (p.Ser937Leu) c.2174C>T (p.Ser725Leu) c.-766C>T (n.-766C>T) | dbSNP |
| 5 | g.177211630A>C | CA447960909 | NSD1 | c.2358A>C (p.Ser786=) n.612+7338A>C n.2814A>C c.2922A>C (p.Ser974=) n.2628A>C c.3231A>C (p.Ser1077=) n.3378A>C c.2424A>C (p.Ser808=) c.2811A>C (p.Ser937=) c.2175A>C (p.Ser725=) c.-765A>C (n.-765A>C) | |
| 5 | g.177211630A>G | CA447960910 | NSD1 | c.2358A>G (p.Ser786=) n.612+7338A>G n.2814A>G c.2922A>G (p.Ser974=) n.2628A>G c.3231A>G (p.Ser1077=) n.3378A>G c.2424A>G (p.Ser808=) c.2811A>G (p.Ser937=) c.2175A>G (p.Ser725=) c.-765A>G (n.-765A>G) | |
| 5 | g.177211630A>T | CA447960911 | NSD1 | c.2358A>T (p.Ser786=) n.612+7338A>T n.2814A>T c.2922A>T (p.Ser974=) n.2628A>T c.3231A>T (p.Ser1077=) n.3378A>T c.2424A>T (p.Ser808=) c.2811A>T (p.Ser937=) c.2175A>T (p.Ser725=) c.-765A>T (n.-765A>T) | |
| 5 | g.177211630_177211636delinsTC | CA2580074132 | NSD1 | c.2358_2364delinsTC (p.Leu787ArgfsTer7) n.612+7338_612+7344delinsTC n.2814_2820delinsTC c.2922_2928delinsTC (p.Leu975ArgfsTer7) n.2628_2634delinsTC c.3231_3237delinsTC (p.Leu1078ArgfsTer7) n.3378_3384delinsTC c.2424_2430delinsTC (p.Leu809ArgfsTer7) c.2811_2817delinsTC (p.Leu938ArgfsTer7) c.2175_2181delinsTC (p.Leu726ArgfsTer7) c.-765_-759delinsTC (n.-765_-759delinsTC) | ClinVar dbSNP |
| 5 | g.177211631T>A | CA362322957 | NSD1 | c.2359T>A (p.Leu787Met) n.612+7339T>A n.2815T>A c.2923T>A (p.Leu975Met) n.2629T>A c.3232T>A (p.Leu1078Met) n.3379T>A c.2425T>A (p.Leu809Met) c.2812T>A (p.Leu938Met) c.2176T>A (p.Leu726Met) c.-764T>A (n.-764T>A) | |
| 5 | g.177211631T>C | CA447960915 | NSD1 | c.2359T>C (p.Leu787=) n.612+7339T>C n.2815T>C c.2923T>C (p.Leu975=) n.2629T>C c.3232T>C (p.Leu1078=) n.3379T>C c.2425T>C (p.Leu809=) c.2812T>C (p.Leu938=) c.2176T>C (p.Leu726=) c.-764T>C (n.-764T>C) | gnomAD v4 |
| 5 | g.177211631T>G | CA362322959 | NSD1 | c.2359T>G (p.Leu787Val) n.612+7339T>G n.2815T>G c.2923T>G (p.Leu975Val) n.2629T>G c.3232T>G (p.Leu1078Val) n.3379T>G c.2425T>G (p.Leu809Val) c.2812T>G (p.Leu938Val) c.2176T>G (p.Leu726Val) c.-764T>G (n.-764T>G) | |
| 5 | g.177211632T>A | CA362322963 | NSD1 | c.2360T>A (p.Leu787Ter) n.612+7340T>A n.2816T>A c.2924T>A (p.Leu975Ter) n.2630T>A c.3233T>A (p.Leu1078Ter) n.3380T>A c.2426T>A (p.Leu809Ter) c.2813T>A (p.Leu938Ter) c.2177T>A (p.Leu726Ter) c.-763T>A (n.-763T>A) | |
| 5 | g.177211632T>C | CA3577402 | NSD1 | c.2360T>C (p.Leu787Ser) n.612+7340T>C n.2816T>C c.2924T>C (p.Leu975Ser) n.2630T>C c.3233T>C (p.Leu1078Ser) n.3380T>C c.2426T>C (p.Leu809Ser) c.2813T>C (p.Leu938Ser) c.2177T>C (p.Leu726Ser) c.-763T>C (n.-763T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177211632T>G | CA362322967 | NSD1 | c.2360T>G (p.Leu787Trp) n.612+7340T>G n.2816T>G c.2924T>G (p.Leu975Trp) n.2630T>G c.3233T>G (p.Leu1078Trp) n.3380T>G c.2426T>G (p.Leu809Trp) c.2813T>G (p.Leu938Trp) c.2177T>G (p.Leu726Trp) c.-763T>G (n.-763T>G) | |
| 5 | g.177211632T= | CA1603478505 | NSD1 | c.2360T= (p.Leu787=) n.612+7340T= n.2816T= c.2924T= (p.Leu975=) n.2630T= c.3233T= (p.Leu1078=) n.3380T= c.2426T= (p.Leu809=) c.2813T= (p.Leu938=) c.2177T= (p.Leu726=) c.-763T= (n.-763T=) | |
| 5 | g.177211633G>A | CA447960917 | NSD1 | c.2361G>A (p.Leu787=) n.612+7341G>A n.2817G>A c.2925G>A (p.Leu975=) n.2631G>A c.3234G>A (p.Leu1078=) n.3381G>A c.2427G>A (p.Leu809=) c.2814G>A (p.Leu938=) c.2178G>A (p.Leu726=) c.-762G>A (n.-762G>A) | |
| 5 | g.177211633G>C | CA362322971 | NSD1 | c.2361G>C (p.Leu787Phe) n.612+7341G>C n.2817G>C c.2925G>C (p.Leu975Phe) n.2631G>C c.3234G>C (p.Leu1078Phe) n.3381G>C c.2427G>C (p.Leu809Phe) c.2814G>C (p.Leu938Phe) c.2178G>C (p.Leu726Phe) c.-762G>C (n.-762G>C) | |
| 5 | g.177211633G>T | CA362322974 | NSD1 | c.2361G>T (p.Leu787Phe) n.612+7341G>T n.2817G>T c.2925G>T (p.Leu975Phe) n.2631G>T c.3234G>T (p.Leu1078Phe) n.3381G>T c.2427G>T (p.Leu809Phe) c.2814G>T (p.Leu938Phe) c.2178G>T (p.Leu726Phe) c.-762G>T (n.-762G>T) | |
| 5 | g.177211634A= | CA1603478514 | NSD1 | c.2362A= (p.Arg788=) n.612+7342A= n.2818A= c.2926A= (p.Arg976=) n.2632A= c.3235A= (p.Arg1079=) n.3382A= c.2428A= (p.Arg810=) c.2815A= (p.Arg939=) c.2179A= (p.Arg727=) c.-761A= (n.-761A=) | |
| 5 | g.177211634A>C | CA447960922 | NSD1 | c.2362A>C (p.Arg788=) n.612+7342A>C n.2818A>C c.2926A>C (p.Arg976=) n.2632A>C c.3235A>C (p.Arg1079=) n.3382A>C c.2428A>C (p.Arg810=) c.2815A>C (p.Arg939=) c.2179A>C (p.Arg727=) c.-761A>C (n.-761A>C) | |
| 5 | g.177211634A>G | CA362322977 | NSD1 | c.2362A>G (p.Arg788Gly) n.612+7342A>G n.2818A>G c.2926A>G (p.Arg976Gly) n.2632A>G c.3235A>G (p.Arg1079Gly) n.3382A>G c.2428A>G (p.Arg810Gly) c.2815A>G (p.Arg939Gly) c.2179A>G (p.Arg727Gly) c.-761A>G (n.-761A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211634A>T | CA362322979 | NSD1 | c.2362A>T (p.Arg788Ter) n.612+7342A>T n.2818A>T c.2926A>T (p.Arg976Ter) n.2632A>T c.3235A>T (p.Arg1079Ter) n.3382A>T c.2428A>T (p.Arg810Ter) c.2815A>T (p.Arg939Ter) c.2179A>T (p.Arg727Ter) c.-761A>T (n.-761A>T) | |
| 5 | g.177211635G>A | CA362322985 | NSD1 | c.2363G>A (p.Arg788Lys) n.612+7343G>A n.2819G>A c.2927G>A (p.Arg976Lys) n.2633G>A c.3236G>A (p.Arg1079Lys) n.3383G>A c.2429G>A (p.Arg810Lys) c.2816G>A (p.Arg939Lys) c.2180G>A (p.Arg727Lys) c.-760G>A (n.-760G>A) | |
| 5 | g.177211635G>C | CA3577403 | NSD1 | c.2363G>C (p.Arg788Thr) n.612+7343G>C n.2819G>C c.2927G>C (p.Arg976Thr) n.2633G>C c.3236G>C (p.Arg1079Thr) n.3383G>C c.2429G>C (p.Arg810Thr) c.2816G>C (p.Arg939Thr) c.2180G>C (p.Arg727Thr) c.-760G>C (n.-760G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177211635G= | CA1603478519 | NSD1 | c.2363G= (p.Arg788=) n.612+7343G= n.2819G= c.2927G= (p.Arg976=) n.2633G= c.3236G= (p.Arg1079=) n.3383G= c.2429G= (p.Arg810=) c.2816G= (p.Arg939=) c.2180G= (p.Arg727=) c.-760G= (n.-760G=) | |
| 5 | g.177211635G>T | CA362322988 | NSD1 | c.2363G>T (p.Arg788Ile) n.612+7343G>T n.2819G>T c.2927G>T (p.Arg976Ile) n.2633G>T c.3236G>T (p.Arg1079Ile) n.3383G>T c.2429G>T (p.Arg810Ile) c.2816G>T (p.Arg939Ile) c.2180G>T (p.Arg727Ile) c.-760G>T (n.-760G>T) | |
| 5 | g.177211636A>C | CA362322992 | NSD1 | c.2364A>C (p.Arg788Ser) n.612+7344A>C n.2820A>C c.2928A>C (p.Arg976Ser) n.2634A>C c.3237A>C (p.Arg1079Ser) n.3384A>C c.2430A>C (p.Arg810Ser) c.2817A>C (p.Arg939Ser) c.2181A>C (p.Arg727Ser) c.-759A>C (n.-759A>C) | |
| 5 | g.177211636A>G | CA447960923 | NSD1 | c.2364A>G (p.Arg788=) n.612+7344A>G n.2820A>G c.2928A>G (p.Arg976=) n.2634A>G c.3237A>G (p.Arg1079=) n.3384A>G c.2430A>G (p.Arg810=) c.2817A>G (p.Arg939=) c.2181A>G (p.Arg727=) c.-759A>G (n.-759A>G) | |
| 5 | g.177211636A>T | CA362322993 | NSD1 | c.2364A>T (p.Arg788Ser) n.612+7344A>T n.2820A>T c.2928A>T (p.Arg976Ser) n.2634A>T c.3237A>T (p.Arg1079Ser) n.3384A>T c.2430A>T (p.Arg810Ser) c.2817A>T (p.Arg939Ser) c.2181A>T (p.Arg727Ser) c.-759A>T (n.-759A>T) | |
| 5 | g.177211637G>A | CA362323001 | NSD1 | c.2365G>A (p.Gly789Ser) n.612+7345G>A n.2821G>A c.2929G>A (p.Gly977Ser) n.2635G>A c.3238G>A (p.Gly1080Ser) n.3385G>A c.2431G>A (p.Gly811Ser) c.2818G>A (p.Gly940Ser) c.2182G>A (p.Gly728Ser) c.-758G>A (n.-758G>A) | ClinVar dbSNP |
| 5 | g.177211637G>C | CA362322999 | NSD1 | c.2365G>C (p.Gly789Arg) n.612+7345G>C n.2821G>C c.2929G>C (p.Gly977Arg) n.2635G>C c.3238G>C (p.Gly1080Arg) n.3385G>C c.2431G>C (p.Gly811Arg) c.2818G>C (p.Gly940Arg) c.2182G>C (p.Gly728Arg) c.-758G>C (n.-758G>C) | |
| 5 | g.177211637G= | CA1603478523 | NSD1 | c.2365G= (p.Gly789=) n.612+7345G= n.2821G= c.2929G= (p.Gly977=) n.2635G= c.3238G= (p.Gly1080=) n.3385G= c.2431G= (p.Gly811=) c.2818G= (p.Gly940=) c.2182G= (p.Gly728=) c.-758G= (n.-758G=) | |
| 5 | g.177211637G>T | CA362322997 | NSD1 | c.2365G>T (p.Gly789Cys) n.612+7345G>T n.2821G>T c.2929G>T (p.Gly977Cys) n.2635G>T c.3238G>T (p.Gly1080Cys) n.3385G>T c.2431G>T (p.Gly811Cys) c.2818G>T (p.Gly940Cys) c.2182G>T (p.Gly728Cys) c.-758G>T (n.-758G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177211638G>A | CA362323004 | NSD1 | c.2366G>A (p.Gly789Asp) n.612+7346G>A n.2822G>A c.2930G>A (p.Gly977Asp) n.2636G>A c.3239G>A (p.Gly1080Asp) n.3386G>A c.2432G>A (p.Gly811Asp) c.2819G>A (p.Gly940Asp) c.2183G>A (p.Gly728Asp) c.-757G>A (n.-757G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177211638G>C | CA362323006 | NSD1 | c.2366G>C (p.Gly789Ala) n.612+7346G>C n.2822G>C c.2930G>C (p.Gly977Ala) n.2636G>C c.3239G>C (p.Gly1080Ala) n.3386G>C c.2432G>C (p.Gly811Ala) c.2819G>C (p.Gly940Ala) c.2183G>C (p.Gly728Ala) c.-757G>C (n.-757G>C) | |
| 5 | g.177211638G= | CA1603478530 | NSD1 | c.2366G= (p.Gly789=) n.612+7346G= n.2822G= c.2930G= (p.Gly977=) n.2636G= c.3239G= (p.Gly1080=) n.3386G= c.2432G= (p.Gly811=) c.2819G= (p.Gly940=) c.2183G= (p.Gly728=) c.-757G= (n.-757G=) | |
| 5 | g.177211638G>T | CA362323008 | NSD1 | c.2366G>T (p.Gly789Val) n.612+7346G>T n.2822G>T c.2930G>T (p.Gly977Val) n.2636G>T c.3239G>T (p.Gly1080Val) n.3386G>T c.2432G>T (p.Gly811Val) c.2819G>T (p.Gly940Val) c.2183G>T (p.Gly728Val) c.-757G>T (n.-757G>T) | gnomAD v4 |
| 5 | g.177211639T>A | CA447960929 | NSD1 | c.2367T>A (p.Gly789=) n.612+7347T>A n.2823T>A c.2931T>A (p.Gly977=) n.2637T>A c.3240T>A (p.Gly1080=) n.3387T>A c.2433T>A (p.Gly811=) c.2820T>A (p.Gly940=) c.2184T>A (p.Gly728=) c.-756T>A (n.-756T>A) | dbSNP |
| 5 | g.177211639T>C | CA447960930 | NSD1 | c.2367T>C (p.Gly789=) n.612+7347T>C n.2823T>C c.2931T>C (p.Gly977=) n.2637T>C c.3240T>C (p.Gly1080=) n.3387T>C c.2433T>C (p.Gly811=) c.2820T>C (p.Gly940=) c.2184T>C (p.Gly728=) c.-756T>C (n.-756T>C) | |
| 5 | g.177211639T>G | CA447960933 | NSD1 | c.2367T>G (p.Gly789=) n.612+7347T>G n.2823T>G c.2931T>G (p.Gly977=) n.2637T>G c.3240T>G (p.Gly1080=) n.3387T>G c.2433T>G (p.Gly811=) c.2820T>G (p.Gly940=) c.2184T>G (p.Gly728=) c.-756T>G (n.-756T>G) | |
| 5 | g.177211640G>A | CA362323012 | NSD1 | c.2368G>A (p.Gly790Arg) n.612+7348G>A n.2824G>A c.2932G>A (p.Gly978Arg) n.2638G>A c.3241G>A (p.Gly1081Arg) n.3388G>A c.2434G>A (p.Gly812Arg) c.2821G>A (p.Gly941Arg) c.2185G>A (p.Gly729Arg) c.-755G>A (n.-755G>A) | gnomAD v4 |
| 5 | g.177211640G>C | CA362323015 | NSD1 | c.2368G>C (p.Gly790Arg) n.612+7348G>C n.2824G>C c.2932G>C (p.Gly978Arg) n.2638G>C c.3241G>C (p.Gly1081Arg) n.3388G>C c.2434G>C (p.Gly812Arg) c.2821G>C (p.Gly941Arg) c.2185G>C (p.Gly729Arg) c.-755G>C (n.-755G>C) | |
| 5 | g.177211640G>T | CA362323019 | NSD1 | c.2368G>T (p.Gly790Trp) n.612+7348G>T n.2824G>T c.2932G>T (p.Gly978Trp) n.2638G>T c.3241G>T (p.Gly1081Trp) n.3388G>T c.2434G>T (p.Gly812Trp) c.2821G>T (p.Gly941Trp) c.2185G>T (p.Gly729Trp) c.-755G>T (n.-755G>T) | |
| 5 | g.177211641G>A | CA362323023 | NSD1 | c.2369G>A (p.Gly790Glu) n.612+7349G>A n.2825G>A c.2933G>A (p.Gly978Glu) n.2639G>A c.3242G>A (p.Gly1081Glu) n.3389G>A c.2435G>A (p.Gly812Glu) c.2822G>A (p.Gly941Glu) c.2186G>A (p.Gly729Glu) c.-754G>A (n.-754G>A) | gnomAD v4 |
| 5 | g.177211641G>C | CA3577404 | NSD1 | c.2369G>C (p.Gly790Ala) n.612+7349G>C n.2825G>C c.2933G>C (p.Gly978Ala) n.2639G>C c.3242G>C (p.Gly1081Ala) n.3389G>C c.2435G>C (p.Gly812Ala) c.2822G>C (p.Gly941Ala) c.2186G>C (p.Gly729Ala) c.-754G>C (n.-754G>C) | ClinVar dbSNP ExAC gnomAD v4 |
| 5 | g.177211641G= | CA1603478535 | NSD1 | c.2369G= (p.Gly790=) n.612+7349G= n.2825G= c.2933G= (p.Gly978=) n.2639G= c.3242G= (p.Gly1081=) n.3389G= c.2435G= (p.Gly812=) c.2822G= (p.Gly941=) c.2186G= (p.Gly729=) c.-754G= (n.-754G=) | |
| 5 | g.177211641G>T | CA362323027 | NSD1 | c.2369G>T (p.Gly790Val) n.612+7349G>T n.2825G>T c.2933G>T (p.Gly978Val) n.2639G>T c.3242G>T (p.Gly1081Val) n.3389G>T c.2435G>T (p.Gly812Val) c.2822G>T (p.Gly941Val) c.2186G>T (p.Gly729Val) c.-754G>T (n.-754G>T) | dbSNP |
| 5 | g.177211642G>A | CA447960935 | NSD1 | c.2370G>A (p.Gly790=) n.612+7350G>A n.2826G>A c.2934G>A (p.Gly978=) n.2640G>A c.3243G>A (p.Gly1081=) n.3390G>A c.2436G>A (p.Gly812=) c.2823G>A (p.Gly941=) c.2187G>A (p.Gly729=) c.-753G>A (n.-753G>A) | |
| 5 | g.177211642G>C | CA447960936 | NSD1 | c.2370G>C (p.Gly790=) n.612+7350G>C n.2826G>C c.2934G>C (p.Gly978=) n.2640G>C c.3243G>C (p.Gly1081=) n.3390G>C c.2436G>C (p.Gly812=) c.2823G>C (p.Gly941=) c.2187G>C (p.Gly729=) c.-753G>C (n.-753G>C) | |
| 5 | g.177211642G>T | CA447960938 | NSD1 | c.2370G>T (p.Gly790=) n.612+7350G>T n.2826G>T c.2934G>T (p.Gly978=) n.2640G>T c.3243G>T (p.Gly1081=) n.3390G>T c.2436G>T (p.Gly812=) c.2823G>T (p.Gly941=) c.2187G>T (p.Gly729=) c.-753G>T (n.-753G>T) | |
| 5 | g.177211643G>A | CA362323032 | NSD1 | c.2371G>A (p.Ala791Thr) n.612+7351G>A n.2827G>A c.2935G>A (p.Ala979Thr) n.2641G>A c.3244G>A (p.Ala1082Thr) n.3391G>A c.2437G>A (p.Ala813Thr) c.2824G>A (p.Ala942Thr) c.2188G>A (p.Ala730Thr) c.-752G>A (n.-752G>A) | dbSNP |
| 5 | g.177211643G>C | CA362323034 | NSD1 | c.2371G>C (p.Ala791Pro) n.612+7351G>C n.2827G>C c.2935G>C (p.Ala979Pro) n.2641G>C c.3244G>C (p.Ala1082Pro) n.3391G>C c.2437G>C (p.Ala813Pro) c.2824G>C (p.Ala942Pro) c.2188G>C (p.Ala730Pro) c.-752G>C (n.-752G>C) | |
| 5 | g.177211643G= | CA1603478541 | NSD1 | c.2371G= (p.Ala791=) n.612+7351G= n.2827G= c.2935G= (p.Ala979=) n.2641G= c.3244G= (p.Ala1082=) n.3391G= c.2437G= (p.Ala813=) c.2824G= (p.Ala942=) c.2188G= (p.Ala730=) c.-752G= (n.-752G=) | |
| 5 | g.177211643G>T | CA3577405 | NSD1 | c.2371G>T (p.Ala791Ser) n.612+7351G>T n.2827G>T c.2935G>T (p.Ala979Ser) n.2641G>T c.3244G>T (p.Ala1082Ser) n.3391G>T c.2437G>T (p.Ala813Ser) c.2824G>T (p.Ala942Ser) c.2188G>T (p.Ala730Ser) c.-752G>T (n.-752G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177211644C>A | CA362323046 | NSD1 | c.2372C>A (p.Ala791Glu) n.612+7352C>A n.2828C>A c.2936C>A (p.Ala979Glu) n.2642C>A c.3245C>A (p.Ala1082Glu) n.3392C>A c.2438C>A (p.Ala813Glu) c.2825C>A (p.Ala942Glu) c.2189C>A (p.Ala730Glu) c.-751C>A (n.-751C>A) | |
| 5 | g.177211644C>G | CA362323040 | NSD1 | c.2372C>G (p.Ala791Gly) n.612+7352C>G n.2828C>G c.2936C>G (p.Ala979Gly) n.2642C>G c.3245C>G (p.Ala1082Gly) n.3392C>G c.2438C>G (p.Ala813Gly) c.2825C>G (p.Ala942Gly) c.2189C>G (p.Ala730Gly) c.-751C>G (n.-751C>G) | |
| 5 | g.177211644C>T | CA362323044 | NSD1 | c.2372C>T (p.Ala791Val) n.612+7352C>T n.2828C>T c.2936C>T (p.Ala979Val) n.2642C>T c.3245C>T (p.Ala1082Val) n.3392C>T c.2438C>T (p.Ala813Val) c.2825C>T (p.Ala942Val) c.2189C>T (p.Ala730Val) c.-751C>T (n.-751C>T) | |
| 5 | g.177211645A>C | CA447960943 | NSD1 | c.2373A>C (p.Ala791=) n.612+7353A>C n.2829A>C c.2937A>C (p.Ala979=) n.2643A>C c.3246A>C (p.Ala1082=) n.3393A>C c.2439A>C (p.Ala813=) c.2826A>C (p.Ala942=) c.2190A>C (p.Ala730=) c.-750A>C (n.-750A>C) | |
| 5 | g.177211645A>G | CA447960944 | NSD1 | c.2373A>G (p.Ala791=) n.612+7353A>G n.2829A>G c.2937A>G (p.Ala979=) n.2643A>G c.3246A>G (p.Ala1082=) n.3393A>G c.2439A>G (p.Ala813=) c.2826A>G (p.Ala942=) c.2190A>G (p.Ala730=) c.-750A>G (n.-750A>G) | gnomAD v4 |
| 5 | g.177211645A>T | CA447960945 | NSD1 | c.2373A>T (p.Ala791=) n.612+7353A>T n.2829A>T c.2937A>T (p.Ala979=) n.2643A>T c.3246A>T (p.Ala1082=) n.3393A>T c.2439A>T (p.Ala813=) c.2826A>T (p.Ala942=) c.2190A>T (p.Ala730=) c.-750A>T (n.-750A>T) | |
| 5 | g.177211646G>A | CA3577406 | NSD1 | c.2374G>A (p.Glu792Lys) n.612+7354G>A n.2830G>A c.2938G>A (p.Glu980Lys) n.2644G>A c.3247G>A (p.Glu1083Lys) n.3394G>A c.2440G>A (p.Glu814Lys) c.2827G>A (p.Glu943Lys) c.2191G>A (p.Glu731Lys) c.-749G>A (n.-749G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177211646G>C | CA362323058 | NSD1 | c.2374G>C (p.Glu792Gln) n.612+7354G>C n.2830G>C c.2938G>C (p.Glu980Gln) n.2644G>C c.3247G>C (p.Glu1083Gln) n.3394G>C c.2440G>C (p.Glu814Gln) c.2827G>C (p.Glu943Gln) c.2191G>C (p.Glu731Gln) c.-749G>C (n.-749G>C) | |
| 5 | g.177211646G= | CA1603478559 | NSD1 | c.2374G= (p.Glu792=) n.612+7354G= n.2830G= c.2938G= (p.Glu980=) n.2644G= c.3247G= (p.Glu1083=) n.3394G= c.2440G= (p.Glu814=) c.2827G= (p.Glu943=) c.2191G= (p.Glu731=) c.-749G= (n.-749G=) | |
| 5 | g.177211646G>T | CA362323055 | NSD1 | c.2374G>T (p.Glu792Ter) n.612+7354G>T n.2830G>T c.2938G>T (p.Glu980Ter) n.2644G>T c.3247G>T (p.Glu1083Ter) n.3394G>T c.2440G>T (p.Glu814Ter) c.2827G>T (p.Glu943Ter) c.2191G>T (p.Glu731Ter) c.-749G>T (n.-749G>T) | |
| 5 | g.177211647A= | CA1603478561 | NSD1 | c.2375A= (p.Glu792=) n.612+7355A= n.2831A= c.2939A= (p.Glu980=) n.2645A= c.3248A= (p.Glu1083=) n.3395A= c.2441A= (p.Glu814=) c.2828A= (p.Glu943=) c.2192A= (p.Glu731=) c.-748A= (n.-748A=) | |
| 5 | g.177211647A>C | CA362323063 | NSD1 | c.2375A>C (p.Glu792Ala) n.612+7355A>C n.2831A>C c.2939A>C (p.Glu980Ala) n.2645A>C c.3248A>C (p.Glu1083Ala) n.3395A>C c.2441A>C (p.Glu814Ala) c.2828A>C (p.Glu943Ala) c.2192A>C (p.Glu731Ala) c.-748A>C (n.-748A>C) | |
| 5 | g.177211647A>G | CA3577407 | NSD1 | c.2375A>G (p.Glu792Gly) n.612+7355A>G n.2831A>G c.2939A>G (p.Glu980Gly) n.2645A>G c.3248A>G (p.Glu1083Gly) n.3395A>G c.2441A>G (p.Glu814Gly) c.2828A>G (p.Glu943Gly) c.2192A>G (p.Glu731Gly) c.-748A>G (n.-748A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177211647A>T | CA362323067 | NSD1 | c.2375A>T (p.Glu792Val) n.612+7355A>T n.2831A>T c.2939A>T (p.Glu980Val) n.2645A>T c.3248A>T (p.Glu1083Val) n.3395A>T c.2441A>T (p.Glu814Val) c.2828A>T (p.Glu943Val) c.2192A>T (p.Glu731Val) c.-748A>T (n.-748A>T) | |
| 5 | g.177211648A>C | CA362323073 | NSD1 | c.2376A>C (p.Glu792Asp) n.612+7356A>C n.2832A>C c.2940A>C (p.Glu980Asp) n.2646A>C c.3249A>C (p.Glu1083Asp) n.3396A>C c.2442A>C (p.Glu814Asp) c.2829A>C (p.Glu943Asp) c.2193A>C (p.Glu731Asp) c.-747A>C (n.-747A>C) | |
| 5 | g.177211648A>G | CA447960953 | NSD1 | c.2376A>G (p.Glu792=) n.612+7356A>G n.2832A>G c.2940A>G (p.Glu980=) n.2646A>G c.3249A>G (p.Glu1083=) n.3396A>G c.2442A>G (p.Glu814=) c.2829A>G (p.Glu943=) c.2193A>G (p.Glu731=) c.-747A>G (n.-747A>G) | |
| 5 | g.177211648A>T | CA362323075 | NSD1 | c.2376A>T (p.Glu792Asp) n.612+7356A>T n.2832A>T c.2940A>T (p.Glu980Asp) n.2646A>T c.3249A>T (p.Glu1083Asp) n.3396A>T c.2442A>T (p.Glu814Asp) c.2829A>T (p.Glu943Asp) c.2193A>T (p.Glu731Asp) c.-747A>T (n.-747A>T) | |
| 5 | g.177211649G>A | CA362323079 | NSD1 | c.2377G>A (p.Asp793Asn) n.612+7357G>A n.2833G>A c.2941G>A (p.Asp981Asn) n.2647G>A c.3250G>A (p.Asp1084Asn) n.3397G>A c.2443G>A (p.Asp815Asn) c.2830G>A (p.Asp944Asn) c.2194G>A (p.Asp732Asn) c.-746G>A (n.-746G>A) | |
| 5 | g.177211649G>C | CA362323081 | NSD1 | c.2377G>C (p.Asp793His) n.612+7357G>C n.2833G>C c.2941G>C (p.Asp981His) n.2647G>C c.3250G>C (p.Asp1084His) n.3397G>C c.2443G>C (p.Asp815His) c.2830G>C (p.Asp944His) c.2194G>C (p.Asp732His) c.-746G>C (n.-746G>C) | |
| 5 | g.177211649G>T | CA362323085 | NSD1 | c.2377G>T (p.Asp793Tyr) n.612+7357G>T n.2833G>T c.2941G>T (p.Asp981Tyr) n.2647G>T c.3250G>T (p.Asp1084Tyr) n.3397G>T c.2443G>T (p.Asp815Tyr) c.2830G>T (p.Asp944Tyr) c.2194G>T (p.Asp732Tyr) c.-746G>T (n.-746G>T) | |
| 5 | g.177211650A>C | CA362323092 | NSD1 | c.2378A>C (p.Asp793Ala) n.612+7358A>C n.2834A>C c.2942A>C (p.Asp981Ala) n.2648A>C c.3251A>C (p.Asp1084Ala) n.3398A>C c.2444A>C (p.Asp815Ala) c.2831A>C (p.Asp944Ala) c.2195A>C (p.Asp732Ala) c.-745A>C (n.-745A>C) | |
| 5 | g.177211650A>G | CA362323096 | NSD1 | c.2378A>G (p.Asp793Gly) n.612+7358A>G n.2834A>G c.2942A>G (p.Asp981Gly) n.2648A>G c.3251A>G (p.Asp1084Gly) n.3398A>G c.2444A>G (p.Asp815Gly) c.2831A>G (p.Asp944Gly) c.2195A>G (p.Asp732Gly) c.-745A>G (n.-745A>G) | |
| 5 | g.177211650A>T | CA362323094 | NSD1 | c.2378A>T (p.Asp793Val) n.612+7358A>T n.2834A>T c.2942A>T (p.Asp981Val) n.2648A>T c.3251A>T (p.Asp1084Val) n.3398A>T c.2444A>T (p.Asp815Val) c.2831A>T (p.Asp944Val) c.2195A>T (p.Asp732Val) c.-745A>T (n.-745A>T) | gnomAD v4 |
| 5 | g.177211651T>A | CA362323100 | NSD1 | c.2379T>A (p.Asp793Glu) n.612+7359T>A n.2835T>A c.2943T>A (p.Asp981Glu) n.2649T>A c.3252T>A (p.Asp1084Glu) n.3399T>A c.2445T>A (p.Asp815Glu) c.2832T>A (p.Asp944Glu) c.2196T>A (p.Asp732Glu) c.-744T>A (n.-744T>A) | |
| 5 | g.177211651T>C | CA447960957 | NSD1 | c.2379T>C (p.Asp793=) n.612+7359T>C n.2835T>C c.2943T>C (p.Asp981=) n.2649T>C c.3252T>C (p.Asp1084=) n.3399T>C c.2445T>C (p.Asp815=) c.2832T>C (p.Asp944=) c.2196T>C (p.Asp732=) c.-744T>C (n.-744T>C) | |
| 5 | g.177211651T>G | CA362323102 | NSD1 | c.2379T>G (p.Asp793Glu) n.612+7359T>G n.2835T>G c.2943T>G (p.Asp981Glu) n.2649T>G c.3252T>G (p.Asp1084Glu) n.3399T>G c.2445T>G (p.Asp815Glu) c.2832T>G (p.Asp944Glu) c.2196T>G (p.Asp732Glu) c.-744T>G (n.-744T>G) | |
| 5 | g.177211652C>A | CA362323105 | NSD1 | c.2380C>A (p.Pro794Thr) n.612+7360C>A n.2836C>A c.2944C>A (p.Pro982Thr) n.2650C>A c.3253C>A (p.Pro1085Thr) n.3400C>A c.2446C>A (p.Pro816Thr) c.2833C>A (p.Pro945Thr) c.2197C>A (p.Pro733Thr) c.-743C>A (n.-743C>A) | dbSNP |
| 5 | g.177211652C>G | CA362323108 | NSD1 | c.2380C>G (p.Pro794Ala) n.612+7360C>G n.2836C>G c.2944C>G (p.Pro982Ala) n.2650C>G c.3253C>G (p.Pro1085Ala) n.3400C>G c.2446C>G (p.Pro816Ala) c.2833C>G (p.Pro945Ala) c.2197C>G (p.Pro733Ala) c.-743C>G (n.-743C>G) | dbSNP |
| 5 | g.177211652C>T | CA362323110 | NSD1 | c.2380C>T (p.Pro794Ser) n.612+7360C>T n.2836C>T c.2944C>T (p.Pro982Ser) n.2650C>T c.3253C>T (p.Pro1085Ser) n.3400C>T c.2446C>T (p.Pro816Ser) c.2833C>T (p.Pro945Ser) c.2197C>T (p.Pro733Ser) c.-743C>T (n.-743C>T) | dbSNP |
| 5 | g.177211653del | CA2499217772 | NSD1 | c.2381del (p.Pro794LeufsTer9) n.612+7361del n.2837del c.2945del (p.Pro982LeufsTer9) n.2651del c.3254del (p.Pro1085LeufsTer9) n.3401del c.2447del (p.Pro816LeufsTer9) c.2834del (p.Pro945LeufsTer9) c.2198del (p.Pro733LeufsTer9) c.-742del (n.-742del) | ClinVar dbSNP |
| 5 | g.177211653C>A | CA362323115 | NSD1 | c.2381C>A (p.Pro794His) n.612+7361C>A n.2837C>A c.2945C>A (p.Pro982His) n.2651C>A c.3254C>A (p.Pro1085His) n.3401C>A c.2447C>A (p.Pro816His) c.2834C>A (p.Pro945His) c.2198C>A (p.Pro733His) c.-742C>A (n.-742C>A) | |
| 5 | g.177211653C>G | CA362323122 | NSD1 | c.2381C>G (p.Pro794Arg) n.612+7361C>G n.2837C>G c.2945C>G (p.Pro982Arg) n.2651C>G c.3254C>G (p.Pro1085Arg) n.3401C>G c.2447C>G (p.Pro816Arg) c.2834C>G (p.Pro945Arg) c.2198C>G (p.Pro733Arg) c.-742C>G (n.-742C>G) | gnomAD v4 |
| 5 | g.177211653C>T | CA362323120 | NSD1 | c.2381C>T (p.Pro794Leu) n.612+7361C>T n.2837C>T c.2945C>T (p.Pro982Leu) n.2651C>T c.3254C>T (p.Pro1085Leu) n.3401C>T c.2447C>T (p.Pro816Leu) c.2834C>T (p.Pro945Leu) c.2198C>T (p.Pro733Leu) c.-742C>T (n.-742C>T) | dbSNP gnomAD v4 |
| 5 | g.177211654T>A | CA447960960 | NSD1 | c.2382T>A (p.Pro794=) n.612+7362T>A n.2838T>A c.2946T>A (p.Pro982=) n.2652T>A c.3255T>A (p.Pro1085=) n.3402T>A c.2448T>A (p.Pro816=) c.2835T>A (p.Pro945=) c.2199T>A (p.Pro733=) c.-741T>A (n.-741T>A) | |
| 5 | g.177211654T>C | CA447960961 | NSD1 | c.2382T>C (p.Pro794=) n.612+7362T>C n.2838T>C c.2946T>C (p.Pro982=) n.2652T>C c.3255T>C (p.Pro1085=) n.3402T>C c.2448T>C (p.Pro816=) c.2835T>C (p.Pro945=) c.2199T>C (p.Pro733=) c.-741T>C (n.-741T>C) | |
| 5 | g.177211654T>G | CA447960962 | NSD1 | c.2382T>G (p.Pro794=) n.612+7362T>G n.2838T>G c.2946T>G (p.Pro982=) n.2652T>G c.3255T>G (p.Pro1085=) n.3402T>G c.2448T>G (p.Pro816=) c.2835T>G (p.Pro945=) c.2199T>G (p.Pro733=) c.-741T>G (n.-741T>G) | |
| 5 | g.177211655A= | CA1603478565 | NSD1 | c.2383A= (p.Ser795=) n.612+7363A= n.2839A= c.2947A= (p.Ser983=) n.2653A= c.3256A= (p.Ser1086=) n.3403A= c.2449A= (p.Ser817=) c.2836A= (p.Ser946=) c.2200A= (p.Ser734=) c.-740A= (n.-740A=) | |
| 5 | g.177211655A>C | CA362323127 | NSD1 | c.2383A>C (p.Ser795Arg) n.612+7363A>C n.2839A>C c.2947A>C (p.Ser983Arg) n.2653A>C c.3256A>C (p.Ser1086Arg) n.3403A>C c.2449A>C (p.Ser817Arg) c.2836A>C (p.Ser946Arg) c.2200A>C (p.Ser734Arg) c.-740A>C (n.-740A>C) | |
| 5 | g.177211655A>G | CA132831187 | NSD1 | c.2383A>G (p.Ser795Gly) n.612+7363A>G n.2839A>G c.2947A>G (p.Ser983Gly) n.2653A>G c.3256A>G (p.Ser1086Gly) n.3403A>G c.2449A>G (p.Ser817Gly) c.2836A>G (p.Ser946Gly) c.2200A>G (p.Ser734Gly) c.-740A>G (n.-740A>G) | dbSNP |
| 5 | g.177211655A>T | CA362323132 | NSD1 | c.2383A>T (p.Ser795Cys) n.612+7363A>T n.2839A>T c.2947A>T (p.Ser983Cys) n.2653A>T c.3256A>T (p.Ser1086Cys) n.3403A>T c.2449A>T (p.Ser817Cys) c.2836A>T (p.Ser946Cys) c.2200A>T (p.Ser734Cys) c.-740A>T (n.-740A>T) | |
| 5 | g.177211656G>A | CA362323136 | NSD1 | c.2384G>A (p.Ser795Asn) n.612+7364G>A n.2840G>A c.2948G>A (p.Ser983Asn) n.2654G>A c.3257G>A (p.Ser1086Asn) n.3404G>A c.2450G>A (p.Ser817Asn) c.2837G>A (p.Ser946Asn) c.2201G>A (p.Ser734Asn) c.-739G>A (n.-739G>A) | dbSNP |
| 5 | g.177211656G>C | CA362323139 | NSD1 | c.2384G>C (p.Ser795Thr) n.612+7364G>C n.2840G>C c.2948G>C (p.Ser983Thr) n.2654G>C c.3257G>C (p.Ser1086Thr) n.3404G>C c.2450G>C (p.Ser817Thr) c.2837G>C (p.Ser946Thr) c.2201G>C (p.Ser734Thr) c.-739G>C (n.-739G>C) | |
| 5 | g.177211656G>T | CA362323142 | NSD1 | c.2384G>T (p.Ser795Ile) n.612+7364G>T n.2840G>T c.2948G>T (p.Ser983Ile) n.2654G>T c.3257G>T (p.Ser1086Ile) n.3404G>T c.2450G>T (p.Ser817Ile) c.2837G>T (p.Ser946Ile) c.2201G>T (p.Ser734Ile) c.-739G>T (n.-739G>T) | |
| 5 | g.177211657T>A | CA362323145 | NSD1 | c.2385T>A (p.Ser795Arg) n.612+7365T>A n.2841T>A c.2949T>A (p.Ser983Arg) n.2655T>A c.3258T>A (p.Ser1086Arg) n.3405T>A c.2451T>A (p.Ser817Arg) c.2838T>A (p.Ser946Arg) c.2202T>A (p.Ser734Arg) c.-738T>A (n.-738T>A) | |
| 5 | g.177211657T>C | CA447960966 | NSD1 | c.2385T>C (p.Ser795=) n.612+7365T>C n.2841T>C c.2949T>C (p.Ser983=) n.2655T>C c.3258T>C (p.Ser1086=) n.3405T>C c.2451T>C (p.Ser817=) c.2838T>C (p.Ser946=) c.2202T>C (p.Ser734=) c.-738T>C (n.-738T>C) | |
| 5 | g.177211657T>G | CA362323159 | NSD1 | c.2385T>G (p.Ser795Arg) n.612+7365T>G n.2841T>G c.2949T>G (p.Ser983Arg) n.2655T>G c.3258T>G (p.Ser1086Arg) n.3405T>G c.2451T>G (p.Ser817Arg) c.2838T>G (p.Ser946Arg) c.2202T>G (p.Ser734Arg) c.-738T>G (n.-738T>G) | |
| 5 | g.177211657_177211664delinsTAAAGAGG | CA1603478569 | NSD1 | c.2385_2392delinsTAAAGAGG (p.Ser795=) n.612+7365_612+7372delinsTAAAGAGG n.2841_2848delinsTAAAGAGG c.2949_2956delinsTAAAGAGG (p.Ser983=) n.2655_2662delinsTAAAGAGG c.3258_3265delinsTAAAGAGG (p.Ser1086=) n.3405_3412delinsTAAAGAGG c.2451_2458delinsTAAAGAGG (p.Ser817=) c.2838_2845delinsTAAAGAGG (p.Ser946=) c.2202_2209delinsTAAAGAGG (p.Ser734=) c.-738_-731delinsTAAAGAGG (n.-738_-731delinsTAAAGAGG) | |
| 5 | g.177211658A>C | CA362323166 | NSD1 | c.2386A>C (p.Lys796Gln) n.612+7366A>C n.2842A>C c.2950A>C (p.Lys984Gln) n.2656A>C c.3259A>C (p.Lys1087Gln) n.3406A>C c.2452A>C (p.Lys818Gln) c.2839A>C (p.Lys947Gln) c.2203A>C (p.Lys735Gln) c.-737A>C (n.-737A>C) | |
| 5 | g.177211658A>G | CA362323169 | NSD1 | c.2386A>G (p.Lys796Glu) n.612+7366A>G n.2842A>G c.2950A>G (p.Lys984Glu) n.2656A>G c.3259A>G (p.Lys1087Glu) n.3406A>G c.2452A>G (p.Lys818Glu) c.2839A>G (p.Lys947Glu) c.2203A>G (p.Lys735Glu) c.-737A>G (n.-737A>G) | |
| 5 | g.177211658A>T | CA362323172 | NSD1 | c.2386A>T (p.Lys796Ter) n.612+7366A>T n.2842A>T c.2950A>T (p.Lys984Ter) n.2656A>T c.3259A>T (p.Lys1087Ter) n.3406A>T c.2452A>T (p.Lys818Ter) c.2839A>T (p.Lys947Ter) c.2203A>T (p.Lys735Ter) c.-737A>T (n.-737A>T) | |
| 5 | g.177211659_177211665del | CA319700 | NSD1 | c.2387_2393del (p.Lys796IlefsTer5) n.612+7367_612+7373del n.2843_2849del c.2951_2957del (p.Lys984IlefsTer5) n.2657_2663del c.3260_3266del (p.Lys1087IlefsTer5) n.3407_3413del c.2453_2459del (p.Lys818IlefsTer5) c.2840_2846del (p.Lys947IlefsTer5) c.2204_2210del (p.Lys735IlefsTer5) c.-736_-730del (n.-736_-730del) | ClinVar dbSNP |
| 5 | g.177211659A>C | CA362323179 | NSD1 | c.2387A>C (p.Lys796Thr) n.612+7367A>C n.2843A>C c.2951A>C (p.Lys984Thr) n.2657A>C c.3260A>C (p.Lys1087Thr) n.3407A>C c.2453A>C (p.Lys818Thr) c.2840A>C (p.Lys947Thr) c.2204A>C (p.Lys735Thr) c.-736A>C (n.-736A>C) | |
| 5 | g.177211659A>G | CA362323186 | NSD1 | c.2387A>G (p.Lys796Arg) n.612+7367A>G n.2843A>G c.2951A>G (p.Lys984Arg) n.2657A>G c.3260A>G (p.Lys1087Arg) n.3407A>G c.2453A>G (p.Lys818Arg) c.2840A>G (p.Lys947Arg) c.2204A>G (p.Lys735Arg) c.-736A>G (n.-736A>G) | |
| 5 | g.177211659A>T | CA362323182 | NSD1 | c.2387A>T (p.Lys796Ile) n.612+7367A>T n.2843A>T c.2951A>T (p.Lys984Ile) n.2657A>T c.3260A>T (p.Lys1087Ile) n.3407A>T c.2453A>T (p.Lys818Ile) c.2840A>T (p.Lys947Ile) c.2204A>T (p.Lys735Ile) c.-736A>T (n.-736A>T) | |
| 5 | g.177211660A= | CA1603478577 | NSD1 | c.2388A= (p.Lys796=) n.612+7368A= n.2844A= c.2952A= (p.Lys984=) n.2658A= c.3261A= (p.Lys1087=) n.3408A= c.2454A= (p.Lys818=) c.2841A= (p.Lys947=) c.2205A= (p.Lys735=) c.-735A= (n.-735A=) | |
| 5 | g.177211660A>C | CA362323190 | NSD1 | c.2388A>C (p.Lys796Asn) n.612+7368A>C n.2844A>C c.2952A>C (p.Lys984Asn) n.2658A>C c.3261A>C (p.Lys1087Asn) n.3408A>C c.2454A>C (p.Lys818Asn) c.2841A>C (p.Lys947Asn) c.2205A>C (p.Lys735Asn) c.-735A>C (n.-735A>C) | |
| 5 | g.177211660A>G | CA447960967 | NSD1 | c.2388A>G (p.Lys796=) n.612+7368A>G n.2844A>G c.2952A>G (p.Lys984=) n.2658A>G c.3261A>G (p.Lys1087=) n.3408A>G c.2454A>G (p.Lys818=) c.2841A>G (p.Lys947=) c.2205A>G (p.Lys735=) c.-735A>G (n.-735A>G) | dbSNP |
| 5 | g.177211660A>T | CA362323193 | NSD1 | c.2388A>T (p.Lys796Asn) n.612+7368A>T n.2844A>T c.2952A>T (p.Lys984Asn) n.2658A>T c.3261A>T (p.Lys1087Asn) n.3408A>T c.2454A>T (p.Lys818Asn) c.2841A>T (p.Lys947Asn) c.2205A>T (p.Lys735Asn) c.-735A>T (n.-735A>T) | |
| 5 | g.177211661G>A | CA362323199 | NSD1 | c.2389G>A (p.Glu797Lys) n.612+7369G>A n.2845G>A c.2953G>A (p.Glu985Lys) n.2659G>A c.3262G>A (p.Glu1088Lys) n.3409G>A c.2455G>A (p.Glu819Lys) c.2842G>A (p.Glu948Lys) c.2206G>A (p.Glu736Lys) c.-734G>A (n.-734G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211661G>C | CA362323201 | NSD1 | c.2389G>C (p.Glu797Gln) n.612+7369G>C n.2845G>C c.2953G>C (p.Glu985Gln) n.2659G>C c.3262G>C (p.Glu1088Gln) n.3409G>C c.2455G>C (p.Glu819Gln) c.2842G>C (p.Glu948Gln) c.2206G>C (p.Glu736Gln) c.-734G>C (n.-734G>C) | dbSNP |
| 5 | g.177211661G= | CA1603478580 | NSD1 | c.2389G= (p.Glu797=) n.612+7369G= n.2845G= c.2953G= (p.Glu985=) n.2659G= c.3262G= (p.Glu1088=) n.3409G= c.2455G= (p.Glu819=) c.2842G= (p.Glu948=) c.2206G= (p.Glu736=) c.-734G= (n.-734G=) | |
| 5 | g.177211661G>T | CA362323204 | NSD1 | c.2389G>T (p.Glu797Ter) n.612+7369G>T n.2845G>T c.2953G>T (p.Glu985Ter) n.2659G>T c.3262G>T (p.Glu1088Ter) n.3409G>T c.2455G>T (p.Glu819Ter) c.2842G>T (p.Glu948Ter) c.2206G>T (p.Glu736Ter) c.-734G>T (n.-734G>T) | |
| 5 | g.177211662A>C | CA362323210 | NSD1 | c.2390A>C (p.Glu797Ala) n.612+7370A>C n.2846A>C c.2954A>C (p.Glu985Ala) n.2660A>C c.3263A>C (p.Glu1088Ala) n.3410A>C c.2456A>C (p.Glu819Ala) c.2843A>C (p.Glu948Ala) c.2207A>C (p.Glu736Ala) c.-733A>C (n.-733A>C) | |
| 5 | g.177211662A>G | CA362323211 | NSD1 | c.2390A>G (p.Glu797Gly) n.612+7370A>G n.2846A>G c.2954A>G (p.Glu985Gly) n.2660A>G c.3263A>G (p.Glu1088Gly) n.3410A>G c.2456A>G (p.Glu819Gly) c.2843A>G (p.Glu948Gly) c.2207A>G (p.Glu736Gly) c.-733A>G (n.-733A>G) | |
| 5 | g.177211662A>T | CA362323216 | NSD1 | c.2390A>T (p.Glu797Val) n.612+7370A>T n.2846A>T c.2954A>T (p.Glu985Val) n.2660A>T c.3263A>T (p.Glu1088Val) n.3410A>T c.2456A>T (p.Glu819Val) c.2843A>T (p.Glu948Val) c.2207A>T (p.Glu736Val) c.-733A>T (n.-733A>T) | |
| 5 | g.177211663G>A | CA447960968 | NSD1 | c.2391G>A (p.Glu797=) n.612+7371G>A n.2847G>A c.2955G>A (p.Glu985=) n.2661G>A c.3264G>A (p.Glu1088=) n.3411G>A c.2457G>A (p.Glu819=) c.2844G>A (p.Glu948=) c.2208G>A (p.Glu736=) c.-732G>A (n.-732G>A) | |
| 5 | g.177211663G>C | CA3577408 | NSD1 | c.2391G>C (p.Glu797Asp) n.612+7371G>C n.2847G>C c.2955G>C (p.Glu985Asp) n.2661G>C c.3264G>C (p.Glu1088Asp) n.3411G>C c.2457G>C (p.Glu819Asp) c.2844G>C (p.Glu948Asp) c.2208G>C (p.Glu736Asp) c.-732G>C (n.-732G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177211663G= | CA1603478589 | NSD1 | c.2391G= (p.Glu797=) n.612+7371G= n.2847G= c.2955G= (p.Glu985=) n.2661G= c.3264G= (p.Glu1088=) n.3411G= c.2457G= (p.Glu819=) c.2844G= (p.Glu948=) c.2208G= (p.Glu736=) c.-732G= (n.-732G=) | |
| 5 | g.177211663G>T | CA362323224 | NSD1 | c.2391G>T (p.Glu797Asp) n.612+7371G>T n.2847G>T c.2955G>T (p.Glu985Asp) n.2661G>T c.3264G>T (p.Glu1088Asp) n.3411G>T c.2457G>T (p.Glu819Asp) c.2844G>T (p.Glu948Asp) c.2208G>T (p.Glu736Asp) c.-732G>T (n.-732G>T) | |
| 5 | g.177211664G>A | CA362323231 | NSD1 | c.2392G>A (p.Asp798Asn) n.612+7372G>A n.2848G>A c.2956G>A (p.Asp986Asn) n.2662G>A c.3265G>A (p.Asp1089Asn) n.3412G>A c.2458G>A (p.Asp820Asn) c.2845G>A (p.Asp949Asn) c.2209G>A (p.Asp737Asn) c.-731G>A (n.-731G>A) | COSMIC COSMIC |
| 5 | g.177211664G>C | CA362323241 | NSD1 | c.2392G>C (p.Asp798His) n.612+7372G>C n.2848G>C c.2956G>C (p.Asp986His) n.2662G>C c.3265G>C (p.Asp1089His) n.3412G>C c.2458G>C (p.Asp820His) c.2845G>C (p.Asp949His) c.2209G>C (p.Asp737His) c.-731G>C (n.-731G>C) | dbSNP |
| 5 | g.177211664G>T | CA362323244 | NSD1 | c.2392G>T (p.Asp798Tyr) n.612+7372G>T n.2848G>T c.2956G>T (p.Asp986Tyr) n.2662G>T c.3265G>T (p.Asp1089Tyr) n.3412G>T c.2458G>T (p.Asp820Tyr) c.2845G>T (p.Asp949Tyr) c.2209G>T (p.Asp737Tyr) c.-731G>T (n.-731G>T) | |
| 5 | g.177211665A>C | CA362323256 | NSD1 | c.2393A>C (p.Asp798Ala) n.612+7373A>C n.2849A>C c.2957A>C (p.Asp986Ala) n.2663A>C c.3266A>C (p.Asp1089Ala) n.3413A>C c.2459A>C (p.Asp820Ala) c.2846A>C (p.Asp949Ala) c.2210A>C (p.Asp737Ala) c.-730A>C (n.-730A>C) | |
| 5 | g.177211665A>G | CA362323249 | NSD1 | c.2393A>G (p.Asp798Gly) n.612+7373A>G n.2849A>G c.2957A>G (p.Asp986Gly) n.2663A>G c.3266A>G (p.Asp1089Gly) n.3413A>G c.2459A>G (p.Asp820Gly) c.2846A>G (p.Asp949Gly) c.2210A>G (p.Asp737Gly) c.-730A>G (n.-730A>G) | |
| 5 | g.177211665A>T | CA362323252 | NSD1 | c.2393A>T (p.Asp798Val) n.612+7373A>T n.2849A>T c.2957A>T (p.Asp986Val) n.2663A>T c.3266A>T (p.Asp1089Val) n.3413A>T c.2459A>T (p.Asp820Val) c.2846A>T (p.Asp949Val) c.2210A>T (p.Asp737Val) c.-730A>T (n.-730A>T) | |
| 5 | g.177211666T>A | CA362323263 | NSD1 | c.2394T>A (p.Asp798Glu) n.612+7374T>A n.2850T>A c.2958T>A (p.Asp986Glu) n.2664T>A c.3267T>A (p.Asp1089Glu) n.3414T>A c.2460T>A (p.Asp820Glu) c.2847T>A (p.Asp949Glu) c.2211T>A (p.Asp737Glu) c.-729T>A (n.-729T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211666T>C | CA447960969 | NSD1 | c.2394T>C (p.Asp798=) n.612+7374T>C n.2850T>C c.2958T>C (p.Asp986=) n.2664T>C c.3267T>C (p.Asp1089=) n.3414T>C c.2460T>C (p.Asp820=) c.2847T>C (p.Asp949=) c.2211T>C (p.Asp737=) c.-729T>C (n.-729T>C) | |
| 5 | g.177211666T>G | CA362323277 | NSD1 | c.2394T>G (p.Asp798Glu) n.612+7374T>G n.2850T>G c.2958T>G (p.Asp986Glu) n.2664T>G c.3267T>G (p.Asp1089Glu) n.3414T>G c.2460T>G (p.Asp820Glu) c.2847T>G (p.Asp949Glu) c.2211T>G (p.Asp737Glu) c.-729T>G (n.-729T>G) | dbSNP |
| 5 | g.177211666T= | CA1603478596 | NSD1 | c.2394T= (p.Asp798=) n.612+7374T= n.2850T= c.2958T= (p.Asp986=) n.2664T= c.3267T= (p.Asp1089=) n.3414T= c.2460T= (p.Asp820=) c.2847T= (p.Asp949=) c.2211T= (p.Asp737=) c.-729T= (n.-729T=) | |
| 5 | g.177211667C>A | CA362323282 | NSD1 | c.2395C>A (p.Pro799Thr) n.612+7375C>A n.2851C>A c.2959C>A (p.Pro987Thr) n.2665C>A c.3268C>A (p.Pro1090Thr) n.3415C>A c.2461C>A (p.Pro821Thr) c.2848C>A (p.Pro950Thr) c.2212C>A (p.Pro738Thr) c.-728C>A (n.-728C>A) | dbSNP |
| 5 | g.177211667C= | CA1603478602 | NSD1 | c.2395C= (p.Pro799=) n.612+7375C= n.2851C= c.2959C= (p.Pro987=) n.2665C= c.3268C= (p.Pro1090=) n.3415C= c.2461C= (p.Pro821=) c.2848C= (p.Pro950=) c.2212C= (p.Pro738=) c.-728C= (n.-728C=) | |
| 5 | g.177211667C>G | CA362323286 | NSD1 | c.2395C>G (p.Pro799Ala) n.612+7375C>G n.2851C>G c.2959C>G (p.Pro987Ala) n.2665C>G c.3268C>G (p.Pro1090Ala) n.3415C>G c.2461C>G (p.Pro821Ala) c.2848C>G (p.Pro950Ala) c.2212C>G (p.Pro738Ala) c.-728C>G (n.-728C>G) | |
| 5 | g.177211667C>T | CA362323288 | NSD1 | c.2395C>T (p.Pro799Ser) n.612+7375C>T n.2851C>T c.2959C>T (p.Pro987Ser) n.2665C>T c.3268C>T (p.Pro1090Ser) n.3415C>T c.2461C>T (p.Pro821Ser) c.2848C>T (p.Pro950Ser) c.2212C>T (p.Pro738Ser) c.-728C>T (n.-728C>T) | |
| 5 | g.177211670dup | CA1139655897 | NSD1 | c.2398dup (p.Leu800ProfsTer10) n.612+7378dup n.2854dup c.2962dup (p.Leu988ProfsTer10) n.2668dup c.3271dup (p.Leu1091ProfsTer10) n.3418dup c.2464dup (p.Leu822ProfsTer10) c.2851dup (p.Leu951ProfsTer10) c.2215dup (p.Leu739ProfsTer10) c.-725dup (n.-725dup) | ClinVar dbSNP |
| 5 | g.177211668C>A | CA362323294 | NSD1 | c.2396C>A (p.Pro799His) n.612+7376C>A n.2852C>A c.2960C>A (p.Pro987His) n.2666C>A c.3269C>A (p.Pro1090His) n.3416C>A c.2462C>A (p.Pro821His) c.2849C>A (p.Pro950His) c.2213C>A (p.Pro738His) c.-727C>A (n.-727C>A) | |
| 5 | g.177211668C>G | CA362323297 | NSD1 | c.2396C>G (p.Pro799Arg) n.612+7376C>G n.2852C>G c.2960C>G (p.Pro987Arg) n.2666C>G c.3269C>G (p.Pro1090Arg) n.3416C>G c.2462C>G (p.Pro821Arg) c.2849C>G (p.Pro950Arg) c.2213C>G (p.Pro738Arg) c.-727C>G (n.-727C>G) | |
| 5 | g.177211668C>T | CA362323300 | NSD1 | c.2396C>T (p.Pro799Leu) n.612+7376C>T n.2852C>T c.2960C>T (p.Pro987Leu) n.2666C>T c.3269C>T (p.Pro1090Leu) n.3416C>T c.2462C>T (p.Pro821Leu) c.2849C>T (p.Pro950Leu) c.2213C>T (p.Pro738Leu) c.-727C>T (n.-727C>T) | dbSNP |
| 5 | g.177211669C>A | CA447960970 | NSD1 | c.2397C>A (p.Pro799=) n.612+7377C>A n.2853C>A c.2961C>A (p.Pro987=) n.2667C>A c.3270C>A (p.Pro1090=) n.3417C>A c.2463C>A (p.Pro821=) c.2850C>A (p.Pro950=) c.2214C>A (p.Pro738=) c.-726C>A (n.-726C>A) | dbSNP |
| 5 | g.177211669C>G | CA447960971 | NSD1 | c.2397C>G (p.Pro799=) n.612+7377C>G n.2853C>G c.2961C>G (p.Pro987=) n.2667C>G c.3270C>G (p.Pro1090=) n.3417C>G c.2463C>G (p.Pro821=) c.2850C>G (p.Pro950=) c.2214C>G (p.Pro738=) c.-726C>G (n.-726C>G) | |
| 5 | g.177211669C>T | CA447960972 | NSD1 | c.2397C>T (p.Pro799=) n.612+7377C>T n.2853C>T c.2961C>T (p.Pro987=) n.2667C>T c.3270C>T (p.Pro1090=) n.3417C>T c.2463C>T (p.Pro821=) c.2850C>T (p.Pro950=) c.2214C>T (p.Pro738=) c.-726C>T (n.-726C>T) | dbSNP |
| 5 | g.177211670C>A | CA172798 | NSD1 | c.2398C>A (p.Leu800Ile) n.612+7378C>A n.2854C>A c.2962C>A (p.Leu988Ile) n.2668C>A c.3271C>A (p.Leu1091Ile) n.3418C>A c.2464C>A (p.Leu822Ile) c.2851C>A (p.Leu951Ile) c.2215C>A (p.Leu739Ile) c.-725C>A (n.-725C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211670C= | CA1603478606 | NSD1 | c.2398C= (p.Leu800=) n.612+7378C= n.2854C= c.2962C= (p.Leu988=) n.2668C= c.3271C= (p.Leu1091=) n.3418C= c.2464C= (p.Leu822=) c.2851C= (p.Leu951=) c.2215C= (p.Leu739=) c.-725C= (n.-725C=) | |
| 5 | g.177211670C>G | CA362323308 | NSD1 | c.2398C>G (p.Leu800Val) n.612+7378C>G n.2854C>G c.2962C>G (p.Leu988Val) n.2668C>G c.3271C>G (p.Leu1091Val) n.3418C>G c.2464C>G (p.Leu822Val) c.2851C>G (p.Leu951Val) c.2215C>G (p.Leu739Val) c.-725C>G (n.-725C>G) | |
| 5 | g.177211670C>T | CA362323311 | NSD1 | c.2398C>T (p.Leu800Phe) n.612+7378C>T n.2854C>T c.2962C>T (p.Leu988Phe) n.2668C>T c.3271C>T (p.Leu1091Phe) n.3418C>T c.2464C>T (p.Leu822Phe) c.2851C>T (p.Leu951Phe) c.2215C>T (p.Leu739Phe) c.-725C>T (n.-725C>T) | dbSNP |
| 5 | g.177211671T>A | CA362323318 | NSD1 | c.2399T>A (p.Leu800His) n.612+7379T>A n.2855T>A c.2963T>A (p.Leu988His) n.2669T>A c.3272T>A (p.Leu1091His) n.3419T>A c.2465T>A (p.Leu822His) c.2852T>A (p.Leu951His) c.2216T>A (p.Leu739His) c.-724T>A (n.-724T>A) | |
| 5 | g.177211671T>C | CA362323323 | NSD1 | c.2399T>C (p.Leu800Pro) n.612+7379T>C n.2855T>C c.2963T>C (p.Leu988Pro) n.2669T>C c.3272T>C (p.Leu1091Pro) n.3419T>C c.2465T>C (p.Leu822Pro) c.2852T>C (p.Leu951Pro) c.2216T>C (p.Leu739Pro) c.-724T>C (n.-724T>C) | |
| 5 | g.177211671T>G | CA3577409 | NSD1 | c.2399T>G (p.Leu800Arg) n.612+7379T>G n.2855T>G c.2963T>G (p.Leu988Arg) n.2669T>G c.3272T>G (p.Leu1091Arg) n.3419T>G c.2465T>G (p.Leu822Arg) c.2852T>G (p.Leu951Arg) c.2216T>G (p.Leu739Arg) c.-724T>G (n.-724T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211671T= | CA1603478610 | NSD1 | c.2399T= (p.Leu800=) n.612+7379T= n.2855T= c.2963T= (p.Leu988=) n.2669T= c.3272T= (p.Leu1091=) n.3419T= c.2465T= (p.Leu822=) c.2852T= (p.Leu951=) c.2216T= (p.Leu739=) c.-724T= (n.-724T=) | |
| 5 | g.177211672del | CA2695202831 | NSD1 | c.2400del (p.Gln801ArgfsTer2) n.612+7380del n.2856del c.2964del (p.Gln989ArgfsTer2) n.2670del c.3273del (p.Gln1092ArgfsTer2) n.3420del c.2466del (p.Gln823ArgfsTer2) c.2853del (p.Gln952ArgfsTer2) c.2217del (p.Gln740ArgfsTer2) c.-723del (n.-723del) | |
| 5 | g.177211672T>A | CA447960973 | NSD1 | c.2400T>A (p.Leu800=) n.612+7380T>A n.2856T>A c.2964T>A (p.Leu988=) n.2670T>A c.3273T>A (p.Leu1091=) n.3420T>A c.2466T>A (p.Leu822=) c.2853T>A (p.Leu951=) c.2217T>A (p.Leu739=) c.-723T>A (n.-723T>A) | |
| 5 | g.177211672T>C | CA447960974 | NSD1 | c.2400T>C (p.Leu800=) n.612+7380T>C n.2856T>C c.2964T>C (p.Leu988=) n.2670T>C c.3273T>C (p.Leu1091=) n.3420T>C c.2466T>C (p.Leu822=) c.2853T>C (p.Leu951=) c.2217T>C (p.Leu739=) c.-723T>C (n.-723T>C) | |
| 5 | g.177211672T>G | CA447960975 | NSD1 | c.2400T>G (p.Leu800=) n.612+7380T>G n.2856T>G c.2964T>G (p.Leu988=) n.2670T>G c.3273T>G (p.Leu1091=) n.3420T>G c.2466T>G (p.Leu822=) c.2853T>G (p.Leu951=) c.2217T>G (p.Leu739=) c.-723T>G (n.-723T>G) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.177211672T= | CA1603478615 | NSD1 | c.2400T= (p.Leu800=) n.612+7380T= n.2856T= c.2964T= (p.Leu988=) n.2670T= c.3273T= (p.Leu1091=) n.3420T= c.2466T= (p.Leu822=) c.2853T= (p.Leu951=) c.2217T= (p.Leu739=) c.-723T= (n.-723T=) | |
| 5 | g.177211673C>A | CA362323331 | NSD1 | c.2401C>A (p.Gln801Lys) n.612+7381C>A n.2857C>A c.2965C>A (p.Gln989Lys) n.2671C>A c.3274C>A (p.Gln1092Lys) n.3421C>A c.2467C>A (p.Gln823Lys) c.2854C>A (p.Gln952Lys) c.2218C>A (p.Gln740Lys) c.-722C>A (n.-722C>A) | |
| 5 | g.177211673C= | CA1603478628 | NSD1 | c.2401C= (p.Gln801=) n.612+7381C= n.2857C= c.2965C= (p.Gln989=) n.2671C= c.3274C= (p.Gln1092=) n.3421C= c.2467C= (p.Gln823=) c.2854C= (p.Gln952=) c.2218C= (p.Gln740=) c.-722C= (n.-722C=) | |
| 5 | g.177211673C>G | CA362323338 | NSD1 | c.2401C>G (p.Gln801Glu) n.612+7381C>G n.2857C>G c.2965C>G (p.Gln989Glu) n.2671C>G c.3274C>G (p.Gln1092Glu) n.3421C>G c.2467C>G (p.Gln823Glu) c.2854C>G (p.Gln952Glu) c.2218C>G (p.Gln740Glu) c.-722C>G (n.-722C>G) | |
| 5 | g.177211673C>T | CA362323333 | NSD1 | c.2401C>T (p.Gln801Ter) n.612+7381C>T n.2857C>T c.2965C>T (p.Gln989Ter) n.2671C>T c.3274C>T (p.Gln1092Ter) n.3421C>T c.2467C>T (p.Gln823Ter) c.2854C>T (p.Gln952Ter) c.2218C>T (p.Gln740Ter) c.-722C>T (n.-722C>T) | ClinVar dbSNP |
| 5 | g.177211674A>C | CA362323342 | NSD1 | c.2402A>C (p.Gln801Pro) n.612+7382A>C n.2858A>C c.2966A>C (p.Gln989Pro) n.2672A>C c.3275A>C (p.Gln1092Pro) n.3422A>C c.2468A>C (p.Gln823Pro) c.2855A>C (p.Gln952Pro) c.2219A>C (p.Gln740Pro) c.-721A>C (n.-721A>C) | |
| 5 | g.177211674A>G | CA362323345 | NSD1 | c.2402A>G (p.Gln801Arg) n.612+7382A>G n.2858A>G c.2966A>G (p.Gln989Arg) n.2672A>G c.3275A>G (p.Gln1092Arg) n.3422A>G c.2468A>G (p.Gln823Arg) c.2855A>G (p.Gln952Arg) c.2219A>G (p.Gln740Arg) c.-721A>G (n.-721A>G) | ClinVar |
| 5 | g.177211674A>T | CA362323348 | NSD1 | c.2402A>T (p.Gln801Leu) n.612+7382A>T n.2858A>T c.2966A>T (p.Gln989Leu) n.2672A>T c.3275A>T (p.Gln1092Leu) n.3422A>T c.2468A>T (p.Gln823Leu) c.2855A>T (p.Gln952Leu) c.2219A>T (p.Gln740Leu) c.-721A>T (n.-721A>T) | |
| 5 | g.177211675G>A | CA447960976 | NSD1 | c.2403G>A (p.Gln801=) n.612+7383G>A n.2859G>A c.2967G>A (p.Gln989=) n.2673G>A c.3276G>A (p.Gln1092=) n.3423G>A c.2469G>A (p.Gln823=) c.2856G>A (p.Gln952=) c.2220G>A (p.Gln740=) c.-720G>A (n.-720G>A) | |
| 5 | g.177211675G>C | CA362323351 | NSD1 | c.2403G>C (p.Gln801His) n.612+7383G>C n.2859G>C c.2967G>C (p.Gln989His) n.2673G>C c.3276G>C (p.Gln1092His) n.3423G>C c.2469G>C (p.Gln823His) c.2856G>C (p.Gln952His) c.2220G>C (p.Gln740His) c.-720G>C (n.-720G>C) | gnomAD v4 COSMIC COSMIC |
| 5 | g.177211675G>T | CA362323352 | NSD1 | c.2403G>T (p.Gln801His) n.612+7383G>T n.2859G>T c.2967G>T (p.Gln989His) n.2673G>T c.3276G>T (p.Gln1092His) n.3423G>T c.2469G>T (p.Gln823His) c.2856G>T (p.Gln952His) c.2220G>T (p.Gln740His) c.-720G>T (n.-720G>T) | |
| 5 | g.177211676A= | CA1603478633 | NSD1 | c.2404A= (p.Ile802=) n.612+7384A= n.2860A= c.2968A= (p.Ile990=) n.2674A= c.3277A= (p.Ile1093=) n.3424A= c.2470A= (p.Ile824=) c.2857A= (p.Ile953=) c.2221A= (p.Ile741=) c.-719A= (n.-719A=) | |
| 5 | g.177211676A>C | CA362323356 | NSD1 | c.2404A>C (p.Ile802Leu) n.612+7384A>C n.2860A>C c.2968A>C (p.Ile990Leu) n.2674A>C c.3277A>C (p.Ile1093Leu) n.3424A>C c.2470A>C (p.Ile824Leu) c.2857A>C (p.Ile953Leu) c.2221A>C (p.Ile741Leu) c.-719A>C (n.-719A>C) | ClinVar |
| 5 | g.177211676A>G | CA362323359 | NSD1 | c.2404A>G (p.Ile802Val) n.612+7384A>G n.2860A>G c.2968A>G (p.Ile990Val) n.2674A>G c.3277A>G (p.Ile1093Val) n.3424A>G c.2470A>G (p.Ile824Val) c.2857A>G (p.Ile953Val) c.2221A>G (p.Ile741Val) c.-719A>G (n.-719A>G) | dbSNP |
| 5 | g.177211676A>T | CA362323361 | NSD1 | c.2404A>T (p.Ile802Leu) n.612+7384A>T n.2860A>T c.2968A>T (p.Ile990Leu) n.2674A>T c.3277A>T (p.Ile1093Leu) n.3424A>T c.2470A>T (p.Ile824Leu) c.2857A>T (p.Ile953Leu) c.2221A>T (p.Ile741Leu) c.-719A>T (n.-719A>T) | |
| 5 | g.177211677T>A | CA362323369 | NSD1 | c.2405T>A (p.Ile802Lys) n.612+7385T>A n.2861T>A c.2969T>A (p.Ile990Lys) n.2675T>A c.3278T>A (p.Ile1093Lys) n.3425T>A c.2471T>A (p.Ile824Lys) c.2858T>A (p.Ile953Lys) c.2222T>A (p.Ile741Lys) c.-718T>A (n.-718T>A) | |
| 5 | g.177211677T>C | CA362323374 | NSD1 | c.2405T>C (p.Ile802Thr) n.612+7385T>C n.2861T>C c.2969T>C (p.Ile990Thr) n.2675T>C c.3278T>C (p.Ile1093Thr) n.3425T>C c.2471T>C (p.Ile824Thr) c.2858T>C (p.Ile953Thr) c.2222T>C (p.Ile741Thr) c.-718T>C (n.-718T>C) | |
| 5 | g.177211677T>G | CA362323378 | NSD1 | c.2405T>G (p.Ile802Arg) n.612+7385T>G n.2861T>G c.2969T>G (p.Ile990Arg) n.2675T>G c.3278T>G (p.Ile1093Arg) n.3425T>G c.2471T>G (p.Ile824Arg) c.2858T>G (p.Ile953Arg) c.2222T>G (p.Ile741Arg) c.-718T>G (n.-718T>G) | |
| 5 | g.177211678A>C | CA447960977 | NSD1 | c.2406A>C (p.Ile802=) n.612+7386A>C n.2862A>C c.2970A>C (p.Ile990=) n.2676A>C c.3279A>C (p.Ile1093=) n.3426A>C c.2472A>C (p.Ile824=) c.2859A>C (p.Ile953=) c.2223A>C (p.Ile741=) c.-717A>C (n.-717A>C) | |
| 5 | g.177211678A>G | CA362323380 | NSD1 | c.2406A>G (p.Ile802Met) n.612+7386A>G n.2862A>G c.2970A>G (p.Ile990Met) n.2676A>G c.3279A>G (p.Ile1093Met) n.3426A>G c.2472A>G (p.Ile824Met) c.2859A>G (p.Ile953Met) c.2223A>G (p.Ile741Met) c.-717A>G (n.-717A>G) | gnomAD v4 |
| 5 | g.177211678A>T | CA447960978 | NSD1 | c.2406A>T (p.Ile802=) n.612+7386A>T n.2862A>T c.2970A>T (p.Ile990=) n.2676A>T c.3279A>T (p.Ile1093=) n.3426A>T c.2472A>T (p.Ile824=) c.2859A>T (p.Ile953=) c.2223A>T (p.Ile741=) c.-717A>T (n.-717A>T) | |
| 5 | g.177211679dup | CA2695202833 | NSD1 | c.2407dup (p.Met803AsnfsTer7) n.612+7387dup n.2863dup c.2971dup (p.Met991AsnfsTer7) n.2677dup c.3280dup (p.Met1094AsnfsTer7) n.3427dup c.2473dup (p.Met825AsnfsTer7) c.2860dup (p.Met954AsnfsTer7) c.2224dup (p.Met742AsnfsTer7) c.-716dup (n.-716dup) | |
| 5 | g.177211679A>C | CA362323386 | NSD1 | c.2407A>C (p.Met803Leu) n.612+7387A>C n.2863A>C c.2971A>C (p.Met991Leu) n.2677A>C c.3280A>C (p.Met1094Leu) n.3427A>C c.2473A>C (p.Met825Leu) c.2860A>C (p.Met954Leu) c.2224A>C (p.Met742Leu) c.-716A>C (n.-716A>C) | |
| 5 | g.177211679A>G | CA362323391 | NSD1 | c.2407A>G (p.Met803Val) n.612+7387A>G n.2863A>G c.2971A>G (p.Met991Val) n.2677A>G c.3280A>G (p.Met1094Val) n.3427A>G c.2473A>G (p.Met825Val) c.2860A>G (p.Met954Val) c.2224A>G (p.Met742Val) c.-716A>G (n.-716A>G) | |
| 5 | g.177211679A>T | CA362323389 | NSD1 | c.2407A>T (p.Met803Leu) n.612+7387A>T n.2863A>T c.2971A>T (p.Met991Leu) n.2677A>T c.3280A>T (p.Met1094Leu) n.3427A>T c.2473A>T (p.Met825Leu) c.2860A>T (p.Met954Leu) c.2224A>T (p.Met742Leu) c.-716A>T (n.-716A>T) | |
| 5 | g.177211680T>A | CA362323396 | NSD1 | c.2408T>A (p.Met803Lys) n.612+7388T>A n.2864T>A c.2972T>A (p.Met991Lys) n.2678T>A c.3281T>A (p.Met1094Lys) n.3428T>A c.2474T>A (p.Met825Lys) c.2861T>A (p.Met954Lys) c.2225T>A (p.Met742Lys) c.-715T>A (n.-715T>A) | |
| 5 | g.177211680T>C | CA3577410 | NSD1 | c.2408T>C (p.Met803Thr) n.612+7388T>C n.2864T>C c.2972T>C (p.Met991Thr) n.2678T>C c.3281T>C (p.Met1094Thr) n.3428T>C c.2474T>C (p.Met825Thr) c.2861T>C (p.Met954Thr) c.2225T>C (p.Met742Thr) c.-715T>C (n.-715T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.177211680T>G | CA362323401 | NSD1 | c.2408T>G (p.Met803Arg) n.612+7388T>G n.2864T>G c.2972T>G (p.Met991Arg) n.2678T>G c.3281T>G (p.Met1094Arg) n.3428T>G c.2474T>G (p.Met825Arg) c.2861T>G (p.Met954Arg) c.2225T>G (p.Met742Arg) c.-715T>G (n.-715T>G) | |
| 5 | g.177211680T= | CA1603478638 | NSD1 | c.2408T= (p.Met803=) n.612+7388T= n.2864T= c.2972T= (p.Met991=) n.2678T= c.3281T= (p.Met1094=) n.3428T= c.2474T= (p.Met825=) c.2861T= (p.Met954=) c.2225T= (p.Met742=) c.-715T= (n.-715T=) | |
| 5 | g.177211681G>A | CA132831250 | NSD1 | c.2409G>A (p.Met803Ile) n.612+7389G>A n.2865G>A c.2973G>A (p.Met991Ile) n.2679G>A c.3282G>A (p.Met1094Ile) n.3429G>A c.2475G>A (p.Met825Ile) c.2862G>A (p.Met954Ile) c.2226G>A (p.Met742Ile) c.-714G>A (n.-714G>A) | dbSNP gnomAD v4 |
| 5 | g.177211681G>C | CA362323408 | NSD1 | c.2409G>C (p.Met803Ile) n.612+7389G>C n.2865G>C c.2973G>C (p.Met991Ile) n.2679G>C c.3282G>C (p.Met1094Ile) n.3429G>C c.2475G>C (p.Met825Ile) c.2862G>C (p.Met954Ile) c.2226G>C (p.Met742Ile) c.-714G>C (n.-714G>C) | |
| 5 | g.177211681G= | CA1603478647 | NSD1 | c.2409G= (p.Met803=) n.612+7389G= n.2865G= c.2973G= (p.Met991=) n.2679G= c.3282G= (p.Met1094=) n.3429G= c.2475G= (p.Met825=) c.2862G= (p.Met954=) c.2226G= (p.Met742=) c.-714G= (n.-714G=) | |
| 5 | g.177211681G>T | CA362323411 | NSD1 | c.2409G>T (p.Met803Ile) n.612+7389G>T n.2865G>T c.2973G>T (p.Met991Ile) n.2679G>T c.3282G>T (p.Met1094Ile) n.3429G>T c.2475G>T (p.Met825Ile) c.2862G>T (p.Met954Ile) c.2226G>T (p.Met742Ile) c.-714G>T (n.-714G>T) | dbSNP |
| 5 | g.177211683del | CA2695202834 | NSD1 | c.2411del (p.Gly804AlafsTer3) n.612+7391del n.2867del c.2975del (p.Gly992AlafsTer3) n.2681del c.3284del (p.Gly1095AlafsTer3) n.3431del c.2477del (p.Gly826AlafsTer3) c.2864del (p.Gly955AlafsTer3) c.2228del (p.Gly743AlafsTer3) c.-712del (n.-712del) | |
| 5 | g.177211681_177211682insATT | CA2676687585 | NSD1 | c.2409_2410insATT (p.Met803_Gly804insIle) n.612+7389_612+7390insATT n.2865_2866insATT c.2973_2974insATT (p.Met991_Gly992insIle) n.2679_2680insATT c.3282_3283insATT (p.Met1094_Gly1095insIle) n.3429_3430insATT c.2475_2476insATT (p.Met825_Gly826insIle) c.2862_2863insATT (p.Met954_Gly955insIle) c.2226_2227insATT (p.Met742_Gly743insIle) c.-714_-713insATT (n.-714_-713insATT) | gnomAD v4 |
| 5 | g.177211682G>A | CA362323414 | NSD1 | c.2410G>A (p.Gly804Ser) n.612+7390G>A n.2866G>A c.2974G>A (p.Gly992Ser) n.2680G>A c.3283G>A (p.Gly1095Ser) n.3430G>A c.2476G>A (p.Gly826Ser) c.2863G>A (p.Gly955Ser) c.2227G>A (p.Gly743Ser) c.-713G>A (n.-713G>A) | gnomAD v4 |
| 5 | g.177211682G>C | CA362323417 | NSD1 | c.2410G>C (p.Gly804Arg) n.612+7390G>C n.2866G>C c.2974G>C (p.Gly992Arg) n.2680G>C c.3283G>C (p.Gly1095Arg) n.3430G>C c.2476G>C (p.Gly826Arg) c.2863G>C (p.Gly955Arg) c.2227G>C (p.Gly743Arg) c.-713G>C (n.-713G>C) | |
| 5 | g.177211682G>T | CA362323419 | NSD1 | c.2410G>T (p.Gly804Cys) n.612+7390G>T n.2866G>T c.2974G>T (p.Gly992Cys) n.2680G>T c.3283G>T (p.Gly1095Cys) n.3430G>T c.2476G>T (p.Gly826Cys) c.2863G>T (p.Gly955Cys) c.2227G>T (p.Gly743Cys) c.-713G>T (n.-713G>T) | |
| 5 | g.177211683G>A | CA362323426 | NSD1 | c.2411G>A (p.Gly804Asp) n.612+7391G>A n.2867G>A c.2975G>A (p.Gly992Asp) n.2681G>A c.3284G>A (p.Gly1095Asp) n.3431G>A c.2477G>A (p.Gly826Asp) c.2864G>A (p.Gly955Asp) c.2228G>A (p.Gly743Asp) c.-712G>A (n.-712G>A) | dbSNP gnomAD v4 |
| 5 | g.177211683G>C | CA362323427 | NSD1 | c.2411G>C (p.Gly804Ala) n.612+7391G>C n.2867G>C c.2975G>C (p.Gly992Ala) n.2681G>C c.3284G>C (p.Gly1095Ala) n.3431G>C c.2477G>C (p.Gly826Ala) c.2864G>C (p.Gly955Ala) c.2228G>C (p.Gly743Ala) c.-712G>C (n.-712G>C) | |
| 5 | g.177211683G= | CA1603478659 | NSD1 | c.2411G= (p.Gly804=) n.612+7391G= n.2867G= c.2975G= (p.Gly992=) n.2681G= c.3284G= (p.Gly1095=) n.3431G= c.2477G= (p.Gly826=) c.2864G= (p.Gly955=) c.2228G= (p.Gly743=) c.-712G= (n.-712G=) | |
| 5 | g.177211683G>T | CA362323425 | NSD1 | c.2411G>T (p.Gly804Val) n.612+7391G>T n.2867G>T c.2975G>T (p.Gly992Val) n.2681G>T c.3284G>T (p.Gly1095Val) n.3431G>T c.2477G>T (p.Gly826Val) c.2864G>T (p.Gly955Val) c.2228G>T (p.Gly743Val) c.-712G>T (n.-712G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177211684C>A | CA447960979 | NSD1 | c.2412C>A (p.Gly804=) n.612+7392C>A n.2868C>A c.2976C>A (p.Gly992=) n.2682C>A c.3285C>A (p.Gly1095=) n.3432C>A c.2478C>A (p.Gly826=) c.2865C>A (p.Gly955=) c.2229C>A (p.Gly743=) c.-711C>A (n.-711C>A) | |
| 5 | g.177211684C= | CA1603478664 | NSD1 | c.2412C= (p.Gly804=) n.612+7392C= n.2868C= c.2976C= (p.Gly992=) n.2682C= c.3285C= (p.Gly1095=) n.3432C= c.2478C= (p.Gly826=) c.2865C= (p.Gly955=) c.2229C= (p.Gly743=) c.-711C= (n.-711C=) | |
| 5 | g.177211684C>G | CA447960980 | NSD1 | c.2412C>G (p.Gly804=) n.612+7392C>G n.2868C>G c.2976C>G (p.Gly992=) n.2682C>G c.3285C>G (p.Gly1095=) n.3432C>G c.2478C>G (p.Gly826=) c.2865C>G (p.Gly955=) c.2229C>G (p.Gly743=) c.-711C>G (n.-711C>G) | |
| 5 | g.177211684C>T | CA447960981 | NSD1 | c.2412C>T (p.Gly804=) n.612+7392C>T n.2868C>T c.2976C>T (p.Gly992=) n.2682C>T c.3285C>T (p.Gly1095=) n.3432C>T c.2478C>T (p.Gly826=) c.2865C>T (p.Gly955=) c.2229C>T (p.Gly743=) c.-711C>T (n.-711C>T) | dbSNP gnomAD v4 |
| 5 | g.177211685C>A | CA362323428 | NSD1 | c.2413C>A (p.His805Asn) n.612+7393C>A n.2869C>A c.2977C>A (p.His993Asn) n.2683C>A c.3286C>A (p.His1096Asn) n.3433C>A c.2479C>A (p.His827Asn) c.2866C>A (p.His956Asn) c.2230C>A (p.His744Asn) c.-710C>A (n.-710C>A) | |
| 5 | g.177211685C= | CA1603478668 | NSD1 | c.2413C= (p.His805=) n.612+7393C= n.2869C= c.2977C= (p.His993=) n.2683C= c.3286C= (p.His1096=) n.3433C= c.2479C= (p.His827=) c.2866C= (p.His956=) c.2230C= (p.His744=) c.-710C= (n.-710C=) | |
| 5 | g.177211685C>G | CA362323429 | NSD1 | c.2413C>G (p.His805Asp) n.612+7393C>G n.2869C>G c.2977C>G (p.His993Asp) n.2683C>G c.3286C>G (p.His1096Asp) n.3433C>G c.2479C>G (p.His827Asp) c.2866C>G (p.His956Asp) c.2230C>G (p.His744Asp) c.-710C>G (n.-710C>G) | |
| 5 | g.177211685C>T | CA3577411 | NSD1 | c.2413C>T (p.His805Tyr) n.612+7393C>T n.2869C>T c.2977C>T (p.His993Tyr) n.2683C>T c.3286C>T (p.His1096Tyr) n.3433C>T c.2479C>T (p.His827Tyr) c.2866C>T (p.His956Tyr) c.2230C>T (p.His744Tyr) c.-710C>T (n.-710C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211686A>C | CA362323433 | NSD1 | c.2414A>C (p.His805Pro) n.612+7394A>C n.2870A>C c.2978A>C (p.His993Pro) n.2684A>C c.3287A>C (p.His1096Pro) n.3434A>C c.2480A>C (p.His827Pro) c.2867A>C (p.His956Pro) c.2231A>C (p.His744Pro) c.-709A>C (n.-709A>C) | |
| 5 | g.177211686A>G | CA362323437 | NSD1 | c.2414A>G (p.His805Arg) n.612+7394A>G n.2870A>G c.2978A>G (p.His993Arg) n.2684A>G c.3287A>G (p.His1096Arg) n.3434A>G c.2480A>G (p.His827Arg) c.2867A>G (p.His956Arg) c.2231A>G (p.His744Arg) c.-709A>G (n.-709A>G) | |
| 5 | g.177211686A>T | CA362323440 | NSD1 | c.2414A>T (p.His805Leu) n.612+7394A>T n.2870A>T c.2978A>T (p.His993Leu) n.2684A>T c.3287A>T (p.His1096Leu) n.3434A>T c.2480A>T (p.His827Leu) c.2867A>T (p.His956Leu) c.2231A>T (p.His744Leu) c.-709A>T (n.-709A>T) |