Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177211546G>A | CA447960934 | NSD1 | c.2274G>A (p.Lys758=) n.612+7254G>A n.2730G>A c.2838G>A (p.Lys946=) n.2544G>A c.3147G>A (p.Lys1049=) n.3294G>A c.2340G>A (p.Lys780=) c.2727G>A (p.Lys909=) c.2091G>A (p.Lys697=) c.-849G>A (n.-849G>A) | |
5 | g.177211546G>C | CA362322304 | NSD1 | c.2274G>C (p.Lys758Asn) n.612+7254G>C n.2730G>C c.2838G>C (p.Lys946Asn) n.2544G>C c.3147G>C (p.Lys1049Asn) n.3294G>C c.2340G>C (p.Lys780Asn) c.2727G>C (p.Lys909Asn) c.2091G>C (p.Lys697Asn) c.-849G>C (n.-849G>C) | |
5 | g.177211546G>T | CA362322306 | NSD1 | c.2274G>T (p.Lys758Asn) n.612+7254G>T n.2730G>T c.2838G>T (p.Lys946Asn) n.2544G>T c.3147G>T (p.Lys1049Asn) n.3294G>T c.2340G>T (p.Lys780Asn) c.2727G>T (p.Lys909Asn) c.2091G>T (p.Lys697Asn) c.-849G>T (n.-849G>T) | |
5 | g.177211547A>C | CA362322310 | NSD1 | c.2275A>C (p.Thr759Pro) n.612+7255A>C n.2731A>C c.2839A>C (p.Thr947Pro) n.2545A>C c.3148A>C (p.Thr1050Pro) n.3295A>C c.2341A>C (p.Thr781Pro) c.2728A>C (p.Thr910Pro) c.2092A>C (p.Thr698Pro) c.-848A>C (n.-848A>C) | |
5 | g.177211547A>G | CA362322312 | NSD1 | c.2275A>G (p.Thr759Ala) n.612+7255A>G n.2731A>G c.2839A>G (p.Thr947Ala) n.2545A>G c.3148A>G (p.Thr1050Ala) n.3295A>G c.2341A>G (p.Thr781Ala) c.2728A>G (p.Thr910Ala) c.2092A>G (p.Thr698Ala) c.-848A>G (n.-848A>G) | |
5 | g.177211547A>T | CA362322315 | NSD1 | c.2275A>T (p.Thr759Ser) n.612+7255A>T n.2731A>T c.2839A>T (p.Thr947Ser) n.2545A>T c.3148A>T (p.Thr1050Ser) n.3295A>T c.2341A>T (p.Thr781Ser) c.2728A>T (p.Thr910Ser) c.2092A>T (p.Thr698Ser) c.-848A>T (n.-848A>T) | |
5 | g.177211548C>A | CA362322319 | NSD1 | c.2276C>A (p.Thr759Asn) n.612+7256C>A n.2732C>A c.2840C>A (p.Thr947Asn) n.2546C>A c.3149C>A (p.Thr1050Asn) n.3296C>A c.2342C>A (p.Thr781Asn) c.2729C>A (p.Thr910Asn) c.2093C>A (p.Thr698Asn) c.-847C>A (n.-847C>A) | dbSNP |
5 | g.177211548C>G | CA362322322 | NSD1 | c.2276C>G (p.Thr759Ser) n.612+7256C>G n.2732C>G c.2840C>G (p.Thr947Ser) n.2546C>G c.3149C>G (p.Thr1050Ser) n.3296C>G c.2342C>G (p.Thr781Ser) c.2729C>G (p.Thr910Ser) c.2093C>G (p.Thr698Ser) c.-847C>G (n.-847C>G) | dbSNP |
5 | g.177211548C>T | CA362322323 | NSD1 | c.2276C>T (p.Thr759Ile) n.612+7256C>T n.2732C>T c.2840C>T (p.Thr947Ile) n.2546C>T c.3149C>T (p.Thr1050Ile) n.3296C>T c.2342C>T (p.Thr781Ile) c.2729C>T (p.Thr910Ile) c.2093C>T (p.Thr698Ile) c.-847C>T (n.-847C>T) | gnomAD v4 |
5 | g.177211549C>A | CA447960941 | NSD1 | c.2277C>A (p.Thr759=) n.612+7257C>A n.2733C>A c.2841C>A (p.Thr947=) n.2547C>A c.3150C>A (p.Thr1050=) n.3297C>A c.2343C>A (p.Thr781=) c.2730C>A (p.Thr910=) c.2094C>A (p.Thr698=) c.-846C>A (n.-846C>A) | dbSNP gnomAD v4 |
5 | g.177211549C= | CA1603478179 | NSD1 | c.2277C= (p.Thr759=) n.612+7257C= n.2733C= c.2841C= (p.Thr947=) n.2547C= c.3150C= (p.Thr1050=) n.3297C= c.2343C= (p.Thr781=) c.2730C= (p.Thr910=) c.2094C= (p.Thr698=) c.-846C= (n.-846C=) | |
5 | g.177211549C>G | CA447960942 | NSD1 | c.2277C>G (p.Thr759=) n.612+7257C>G n.2733C>G c.2841C>G (p.Thr947=) n.2547C>G c.3150C>G (p.Thr1050=) n.3297C>G c.2343C>G (p.Thr781=) c.2730C>G (p.Thr910=) c.2094C>G (p.Thr698=) c.-846C>G (n.-846C>G) | |
5 | g.177211549C>T | CA223667 | NSD1 | c.2277C>T (p.Thr759=) n.612+7257C>T n.2733C>T c.2841C>T (p.Thr947=) n.2547C>T c.3150C>T (p.Thr1050=) n.3297C>T c.2343C>T (p.Thr781=) c.2730C>T (p.Thr910=) c.2094C>T (p.Thr698=) c.-846C>T (n.-846C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211550G>A | CA3577386 | NSD1 | c.2278G>A (p.Glu760Lys) n.612+7258G>A n.2734G>A c.2842G>A (p.Glu948Lys) n.2548G>A c.3151G>A (p.Glu1051Lys) n.3298G>A c.2344G>A (p.Glu782Lys) c.2731G>A (p.Glu911Lys) c.2095G>A (p.Glu699Lys) c.-845G>A (n.-845G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211550G>C | CA362322327 | NSD1 | c.2278G>C (p.Glu760Gln) n.612+7258G>C n.2734G>C c.2842G>C (p.Glu948Gln) n.2548G>C c.3151G>C (p.Glu1051Gln) n.3298G>C c.2344G>C (p.Glu782Gln) c.2731G>C (p.Glu911Gln) c.2095G>C (p.Glu699Gln) c.-845G>C (n.-845G>C) | |
5 | g.177211550G= | CA1603478183 | NSD1 | c.2278G= (p.Glu760=) n.612+7258G= n.2734G= c.2842G= (p.Glu948=) n.2548G= c.3151G= (p.Glu1051=) n.3298G= c.2344G= (p.Glu782=) c.2731G= (p.Glu911=) c.2095G= (p.Glu699=) c.-845G= (n.-845G=) | |
5 | g.177211550G>T | CA362322329 | NSD1 | c.2278G>T (p.Glu760Ter) n.612+7258G>T n.2734G>T c.2842G>T (p.Glu948Ter) n.2548G>T c.3151G>T (p.Glu1051Ter) n.3298G>T c.2344G>T (p.Glu782Ter) c.2731G>T (p.Glu911Ter) c.2095G>T (p.Glu699Ter) c.-845G>T (n.-845G>T) | |
5 | g.177211551A>C | CA362322332 | NSD1 | c.2279A>C (p.Glu760Ala) n.612+7259A>C n.2735A>C c.2843A>C (p.Glu948Ala) n.2549A>C c.3152A>C (p.Glu1051Ala) n.3299A>C c.2345A>C (p.Glu782Ala) c.2732A>C (p.Glu911Ala) c.2096A>C (p.Glu699Ala) c.-844A>C (n.-844A>C) | |
5 | g.177211551A>G | CA362322333 | NSD1 | c.2279A>G (p.Glu760Gly) n.612+7259A>G n.2735A>G c.2843A>G (p.Glu948Gly) n.2549A>G c.3152A>G (p.Glu1051Gly) n.3299A>G c.2345A>G (p.Glu782Gly) c.2732A>G (p.Glu911Gly) c.2096A>G (p.Glu699Gly) c.-844A>G (n.-844A>G) | |
5 | g.177211551A>T | CA362322334 | NSD1 | c.2279A>T (p.Glu760Val) n.612+7259A>T n.2735A>T c.2843A>T (p.Glu948Val) n.2549A>T c.3152A>T (p.Glu1051Val) n.3299A>T c.2345A>T (p.Glu782Val) c.2732A>T (p.Glu911Val) c.2096A>T (p.Glu699Val) c.-844A>T (n.-844A>T) | |
5 | g.177211552G>A | CA447960947 | NSD1 | c.2280G>A (p.Glu760=) n.612+7260G>A n.2736G>A c.2844G>A (p.Glu948=) n.2550G>A c.3153G>A (p.Glu1051=) n.3300G>A c.2346G>A (p.Glu782=) c.2733G>A (p.Glu911=) c.2097G>A (p.Glu699=) c.-843G>A (n.-843G>A) | |
5 | g.177211552G>C | CA362322337 | NSD1 | c.2280G>C (p.Glu760Asp) n.612+7260G>C n.2736G>C c.2844G>C (p.Glu948Asp) n.2550G>C c.3153G>C (p.Glu1051Asp) n.3300G>C c.2346G>C (p.Glu782Asp) c.2733G>C (p.Glu911Asp) c.2097G>C (p.Glu699Asp) c.-843G>C (n.-843G>C) | |
5 | g.177211552G= | CA1603478187 | NSD1 | c.2280G= (p.Glu760=) n.612+7260G= n.2736G= c.2844G= (p.Glu948=) n.2550G= c.3153G= (p.Glu1051=) n.3300G= c.2346G= (p.Glu782=) c.2733G= (p.Glu911=) c.2097G= (p.Glu699=) c.-843G= (n.-843G=) | |
5 | g.177211552G>T | CA362322336 | NSD1 | c.2280G>T (p.Glu760Asp) n.612+7260G>T n.2736G>T c.2844G>T (p.Glu948Asp) n.2550G>T c.3153G>T (p.Glu1051Asp) n.3300G>T c.2346G>T (p.Glu782Asp) c.2733G>T (p.Glu911Asp) c.2097G>T (p.Glu699Asp) c.-843G>T (n.-843G>T) | dbSNP |
5 | g.177211553C>A | CA362322338 | NSD1 | c.2281C>A (p.Arg761Ser) n.612+7261C>A n.2737C>A c.2845C>A (p.Arg949Ser) n.2551C>A c.3154C>A (p.Arg1052Ser) n.3301C>A c.2347C>A (p.Arg783Ser) c.2734C>A (p.Arg912Ser) c.2098C>A (p.Arg700Ser) c.-842C>A (n.-842C>A) | dbSNP |
5 | g.177211553C= | CA1603478195 | NSD1 | c.2281C= (p.Arg761=) n.612+7261C= n.2737C= c.2845C= (p.Arg949=) n.2551C= c.3154C= (p.Arg1052=) n.3301C= c.2347C= (p.Arg783=) c.2734C= (p.Arg912=) c.2098C= (p.Arg700=) c.-842C= (n.-842C=) | |
5 | g.177211553C>G | CA362322340 | NSD1 | c.2281C>G (p.Arg761Gly) n.612+7261C>G n.2737C>G c.2845C>G (p.Arg949Gly) n.2551C>G c.3154C>G (p.Arg1052Gly) n.3301C>G c.2347C>G (p.Arg783Gly) c.2734C>G (p.Arg912Gly) c.2098C>G (p.Arg700Gly) c.-842C>G (n.-842C>G) | |
5 | g.177211553C>T | CA203122 | NSD1 | c.2281C>T (p.Arg761Cys) n.612+7261C>T n.2737C>T c.2845C>T (p.Arg949Cys) n.2551C>T c.3154C>T (p.Arg1052Cys) n.3301C>T c.2347C>T (p.Arg783Cys) c.2734C>T (p.Arg912Cys) c.2098C>T (p.Arg700Cys) c.-842C>T (n.-842C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211554G>A | CA362322345 | NSD1 | c.2282G>A (p.Arg761His) n.612+7262G>A n.2738G>A c.2846G>A (p.Arg949His) n.2552G>A c.3155G>A (p.Arg1052His) n.3302G>A c.2348G>A (p.Arg783His) c.2735G>A (p.Arg912His) c.2099G>A (p.Arg700His) c.-841G>A (n.-841G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
5 | g.177211554G>C | CA362322347 | NSD1 | c.2282G>C (p.Arg761Pro) n.612+7262G>C n.2738G>C c.2846G>C (p.Arg949Pro) n.2552G>C c.3155G>C (p.Arg1052Pro) n.3302G>C c.2348G>C (p.Arg783Pro) c.2735G>C (p.Arg912Pro) c.2099G>C (p.Arg700Pro) c.-841G>C (n.-841G>C) | |
5 | g.177211554G= | CA1603478204 | NSD1 | c.2282G= (p.Arg761=) n.612+7262G= n.2738G= c.2846G= (p.Arg949=) n.2552G= c.3155G= (p.Arg1052=) n.3302G= c.2348G= (p.Arg783=) c.2735G= (p.Arg912=) c.2099G= (p.Arg700=) c.-841G= (n.-841G=) | |
5 | g.177211554G>T | CA362322349 | NSD1 | c.2282G>T (p.Arg761Leu) n.612+7262G>T n.2738G>T c.2846G>T (p.Arg949Leu) n.2552G>T c.3155G>T (p.Arg1052Leu) n.3302G>T c.2348G>T (p.Arg783Leu) c.2735G>T (p.Arg912Leu) c.2099G>T (p.Arg700Leu) c.-841G>T (n.-841G>T) | |
5 | g.177211555C>A | CA447960952 | NSD1 | c.2283C>A (p.Arg761=) n.612+7263C>A n.2739C>A c.2847C>A (p.Arg949=) n.2553C>A c.3156C>A (p.Arg1052=) n.3303C>A c.2349C>A (p.Arg783=) c.2736C>A (p.Arg912=) c.2100C>A (p.Arg700=) c.-840C>A (n.-840C>A) | |
5 | g.177211555C>G | CA447960951 | NSD1 | c.2283C>G (p.Arg761=) n.612+7263C>G n.2739C>G c.2847C>G (p.Arg949=) n.2553C>G c.3156C>G (p.Arg1052=) n.3303C>G c.2349C>G (p.Arg783=) c.2736C>G (p.Arg912=) c.2100C>G (p.Arg700=) c.-840C>G (n.-840C>G) | |
5 | g.177211555C>T | CA447960950 | NSD1 | c.2283C>T (p.Arg761=) n.612+7263C>T n.2739C>T c.2847C>T (p.Arg949=) n.2553C>T c.3156C>T (p.Arg1052=) n.3303C>T c.2349C>T (p.Arg783=) c.2736C>T (p.Arg912=) c.2100C>T (p.Arg700=) c.-840C>T (n.-840C>T) | |
5 | g.177211556A= | CA1603478206 | NSD1 | c.2284A= (p.Lys762=) n.612+7264A= n.2740A= c.2848A= (p.Lys950=) n.2554A= c.3157A= (p.Lys1053=) n.3304A= c.2350A= (p.Lys784=) c.2737A= (p.Lys913=) c.2101A= (p.Lys701=) c.-839A= (n.-839A=) | |
5 | g.177211556A>C | CA3577387 | NSD1 | c.2284A>C (p.Lys762Gln) n.612+7264A>C n.2740A>C c.2848A>C (p.Lys950Gln) n.2554A>C c.3157A>C (p.Lys1053Gln) n.3304A>C c.2350A>C (p.Lys784Gln) c.2737A>C (p.Lys913Gln) c.2101A>C (p.Lys701Gln) c.-839A>C (n.-839A>C) | dbSNP ExAC gnomAD v2 |
5 | g.177211556A>G | CA362322354 | NSD1 | c.2284A>G (p.Lys762Glu) n.612+7264A>G n.2740A>G c.2848A>G (p.Lys950Glu) n.2554A>G c.3157A>G (p.Lys1053Glu) n.3304A>G c.2350A>G (p.Lys784Glu) c.2737A>G (p.Lys913Glu) c.2101A>G (p.Lys701Glu) c.-839A>G (n.-839A>G) | gnomAD v4 |
5 | g.177211556A>T | CA362322356 | NSD1 | c.2284A>T (p.Lys762Ter) n.612+7264A>T n.2740A>T c.2848A>T (p.Lys950Ter) n.2554A>T c.3157A>T (p.Lys1053Ter) n.3304A>T c.2350A>T (p.Lys784Ter) c.2737A>T (p.Lys913Ter) c.2101A>T (p.Lys701Ter) c.-839A>T (n.-839A>T) | |
5 | g.177211559del | CA2695202827 | NSD1 | c.2287del (p.Arg763GlufsTer3) n.612+7267del n.2743del c.2851del (p.Arg951GlufsTer3) n.2557del c.3160del (p.Arg1054GlufsTer3) n.3307del c.2353del (p.Arg785GlufsTer3) c.2740del (p.Arg914GlufsTer3) c.2104del (p.Arg702GlufsTer3) c.-836del (n.-836del) | |
5 | g.177211557A>C | CA362322357 | NSD1 | c.2285A>C (p.Lys762Thr) n.612+7265A>C n.2741A>C c.2849A>C (p.Lys950Thr) n.2555A>C c.3158A>C (p.Lys1053Thr) n.3305A>C c.2351A>C (p.Lys784Thr) c.2738A>C (p.Lys913Thr) c.2102A>C (p.Lys701Thr) c.-838A>C (n.-838A>C) | |
5 | g.177211557A>G | CA362322359 | NSD1 | c.2285A>G (p.Lys762Arg) n.612+7265A>G n.2741A>G c.2849A>G (p.Lys950Arg) n.2555A>G c.3158A>G (p.Lys1053Arg) n.3305A>G c.2351A>G (p.Lys784Arg) c.2738A>G (p.Lys913Arg) c.2102A>G (p.Lys701Arg) c.-838A>G (n.-838A>G) | |
5 | g.177211557A>T | CA362322360 | NSD1 | c.2285A>T (p.Lys762Ile) n.612+7265A>T n.2741A>T c.2849A>T (p.Lys950Ile) n.2555A>T c.3158A>T (p.Lys1053Ile) n.3305A>T c.2351A>T (p.Lys784Ile) c.2738A>T (p.Lys913Ile) c.2102A>T (p.Lys701Ile) c.-838A>T (n.-838A>T) | |
5 | g.177211558A>C | CA362322363 | NSD1 | c.2286A>C (p.Lys762Asn) n.612+7266A>C n.2742A>C c.2850A>C (p.Lys950Asn) n.2556A>C c.3159A>C (p.Lys1053Asn) n.3306A>C c.2352A>C (p.Lys784Asn) c.2739A>C (p.Lys913Asn) c.2103A>C (p.Lys701Asn) c.-837A>C (n.-837A>C) | |
5 | g.177211558A>G | CA447960954 | NSD1 | c.2286A>G (p.Lys762=) n.612+7266A>G n.2742A>G c.2850A>G (p.Lys950=) n.2556A>G c.3159A>G (p.Lys1053=) n.3306A>G c.2352A>G (p.Lys784=) c.2739A>G (p.Lys913=) c.2103A>G (p.Lys701=) c.-837A>G (n.-837A>G) | |
5 | g.177211558A>T | CA362322365 | NSD1 | c.2286A>T (p.Lys762Asn) n.612+7266A>T n.2742A>T c.2850A>T (p.Lys950Asn) n.2556A>T c.3159A>T (p.Lys1053Asn) n.3306A>T c.2352A>T (p.Lys784Asn) c.2739A>T (p.Lys913Asn) c.2103A>T (p.Lys701Asn) c.-837A>T (n.-837A>T) | |
5 | g.177211559A>C | CA447960955 | NSD1 | c.2287A>C (p.Arg763=) n.612+7267A>C n.2743A>C c.2851A>C (p.Arg951=) n.2557A>C c.3160A>C (p.Arg1054=) n.3307A>C c.2353A>C (p.Arg785=) c.2740A>C (p.Arg914=) c.2104A>C (p.Arg702=) c.-836A>C (n.-836A>C) | |
5 | g.177211559A>G | CA362322367 | NSD1 | c.2287A>G (p.Arg763Gly) n.612+7267A>G n.2743A>G c.2851A>G (p.Arg951Gly) n.2557A>G c.3160A>G (p.Arg1054Gly) n.3307A>G c.2353A>G (p.Arg785Gly) c.2740A>G (p.Arg914Gly) c.2104A>G (p.Arg702Gly) c.-836A>G (n.-836A>G) | gnomAD v4 |
5 | g.177211559A>T | CA362322369 | NSD1 | c.2287A>T (p.Arg763Ter) n.612+7267A>T n.2743A>T c.2851A>T (p.Arg951Ter) n.2557A>T c.3160A>T (p.Arg1054Ter) n.3307A>T c.2353A>T (p.Arg785Ter) c.2740A>T (p.Arg914Ter) c.2104A>T (p.Arg702Ter) c.-836A>T (n.-836A>T) | |
5 | g.177211560G>A | CA362322374 | NSD1 | c.2288G>A (p.Arg763Lys) n.612+7268G>A n.2744G>A c.2852G>A (p.Arg951Lys) n.2558G>A c.3161G>A (p.Arg1054Lys) n.3308G>A c.2354G>A (p.Arg785Lys) c.2741G>A (p.Arg914Lys) c.2105G>A (p.Arg702Lys) c.-835G>A (n.-835G>A) | dbSNP |
5 | g.177211560G>C | CA362322378 | NSD1 | c.2288G>C (p.Arg763Thr) n.612+7268G>C n.2744G>C c.2852G>C (p.Arg951Thr) n.2558G>C c.3161G>C (p.Arg1054Thr) n.3308G>C c.2354G>C (p.Arg785Thr) c.2741G>C (p.Arg914Thr) c.2105G>C (p.Arg702Thr) c.-835G>C (n.-835G>C) | dbSNP COSMIC COSMIC |
5 | g.177211560G>T | CA362322376 | NSD1 | c.2288G>T (p.Arg763Ile) n.612+7268G>T n.2744G>T c.2852G>T (p.Arg951Ile) n.2558G>T c.3161G>T (p.Arg1054Ile) n.3308G>T c.2354G>T (p.Arg785Ile) c.2741G>T (p.Arg914Ile) c.2105G>T (p.Arg702Ile) c.-835G>T (n.-835G>T) | |
5 | g.177211561A= | CA1603478218 | NSD1 | c.2289A= (p.Arg763=) n.612+7269A= n.2745A= c.2853A= (p.Arg951=) n.2559A= c.3162A= (p.Arg1054=) n.3309A= c.2355A= (p.Arg785=) c.2742A= (p.Arg914=) c.2106A= (p.Arg702=) c.-834A= (n.-834A=) | |
5 | g.177211561A>C | CA362322380 | NSD1 | c.2289A>C (p.Arg763Ser) n.612+7269A>C n.2745A>C c.2853A>C (p.Arg951Ser) n.2559A>C c.3162A>C (p.Arg1054Ser) n.3309A>C c.2355A>C (p.Arg785Ser) c.2742A>C (p.Arg914Ser) c.2106A>C (p.Arg702Ser) c.-834A>C (n.-834A>C) | |
5 | g.177211561A>G | CA447960956 | NSD1 | c.2289A>G (p.Arg763=) n.612+7269A>G n.2745A>G c.2853A>G (p.Arg951=) n.2559A>G c.3162A>G (p.Arg1054=) n.3309A>G c.2355A>G (p.Arg785=) c.2742A>G (p.Arg914=) c.2106A>G (p.Arg702=) c.-834A>G (n.-834A>G) | dbSNP |
5 | g.177211561A>T | CA362322384 | NSD1 | c.2289A>T (p.Arg763Ser) n.612+7269A>T n.2745A>T c.2853A>T (p.Arg951Ser) n.2559A>T c.3162A>T (p.Arg1054Ser) n.3309A>T c.2355A>T (p.Arg785Ser) c.2742A>T (p.Arg914Ser) c.2106A>T (p.Arg702Ser) c.-834A>T (n.-834A>T) | |
5 | g.177211562A= | CA1603478220 | NSD1 | c.2290A= (p.Lys764=) n.612+7270A= n.2746A= c.2854A= (p.Lys952=) n.2560A= c.3163A= (p.Lys1055=) n.3310A= c.2356A= (p.Lys786=) c.2743A= (p.Lys915=) c.2107A= (p.Lys703=) c.-833A= (n.-833A=) | |
5 | g.177211562A>C | CA362322388 | NSD1 | c.2290A>C (p.Lys764Gln) n.612+7270A>C n.2746A>C c.2854A>C (p.Lys952Gln) n.2560A>C c.3163A>C (p.Lys1055Gln) n.3310A>C c.2356A>C (p.Lys786Gln) c.2743A>C (p.Lys915Gln) c.2107A>C (p.Lys703Gln) c.-833A>C (n.-833A>C) | |
5 | g.177211562A>G | CA362322390 | NSD1 | c.2290A>G (p.Lys764Glu) n.612+7270A>G n.2746A>G c.2854A>G (p.Lys952Glu) n.2560A>G c.3163A>G (p.Lys1055Glu) n.3310A>G c.2356A>G (p.Lys786Glu) c.2743A>G (p.Lys915Glu) c.2107A>G (p.Lys703Glu) c.-833A>G (n.-833A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211562A>T | CA362322392 | NSD1 | c.2290A>T (p.Lys764Ter) n.612+7270A>T n.2746A>T c.2854A>T (p.Lys952Ter) n.2560A>T c.3163A>T (p.Lys1055Ter) n.3310A>T c.2356A>T (p.Lys786Ter) c.2743A>T (p.Lys915Ter) c.2107A>T (p.Lys703Ter) c.-833A>T (n.-833A>T) | |
5 | g.177211563A= | CA1603478229 | NSD1 | c.2291A= (p.Lys764=) n.612+7271A= n.2747A= c.2855A= (p.Lys952=) n.2561A= c.3164A= (p.Lys1055=) n.3311A= c.2357A= (p.Lys786=) c.2744A= (p.Lys915=) c.2108A= (p.Lys703=) c.-832A= (n.-832A=) | |
5 | g.177211563A>C | CA362322397 | NSD1 | c.2291A>C (p.Lys764Thr) n.612+7271A>C n.2747A>C c.2855A>C (p.Lys952Thr) n.2561A>C c.3164A>C (p.Lys1055Thr) n.3311A>C c.2357A>C (p.Lys786Thr) c.2744A>C (p.Lys915Thr) c.2108A>C (p.Lys703Thr) c.-832A>C (n.-832A>C) | |
5 | g.177211563A>G | CA362322400 | NSD1 | c.2291A>G (p.Lys764Arg) n.612+7271A>G n.2747A>G c.2855A>G (p.Lys952Arg) n.2561A>G c.3164A>G (p.Lys1055Arg) n.3311A>G c.2357A>G (p.Lys786Arg) c.2744A>G (p.Lys915Arg) c.2108A>G (p.Lys703Arg) c.-832A>G (n.-832A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211563A>T | CA362322402 | NSD1 | c.2291A>T (p.Lys764Ile) n.612+7271A>T n.2747A>T c.2855A>T (p.Lys952Ile) n.2561A>T c.3164A>T (p.Lys1055Ile) n.3311A>T c.2357A>T (p.Lys786Ile) c.2744A>T (p.Lys915Ile) c.2108A>T (p.Lys703Ile) c.-832A>T (n.-832A>T) | |
5 | g.177211564A>C | CA362322407 | NSD1 | c.2292A>C (p.Lys764Asn) n.612+7272A>C n.2748A>C c.2856A>C (p.Lys952Asn) n.2562A>C c.3165A>C (p.Lys1055Asn) n.3312A>C c.2358A>C (p.Lys786Asn) c.2745A>C (p.Lys915Asn) c.2109A>C (p.Lys703Asn) c.-831A>C (n.-831A>C) | |
5 | g.177211564A>G | CA447960958 | NSD1 | c.2292A>G (p.Lys764=) n.612+7272A>G n.2748A>G c.2856A>G (p.Lys952=) n.2562A>G c.3165A>G (p.Lys1055=) n.3312A>G c.2358A>G (p.Lys786=) c.2745A>G (p.Lys915=) c.2109A>G (p.Lys703=) c.-831A>G (n.-831A>G) | |
5 | g.177211564A>T | CA362322412 | NSD1 | c.2292A>T (p.Lys764Asn) n.612+7272A>T n.2748A>T c.2856A>T (p.Lys952Asn) n.2562A>T c.3165A>T (p.Lys1055Asn) n.3312A>T c.2358A>T (p.Lys786Asn) c.2745A>T (p.Lys915Asn) c.2109A>T (p.Lys703Asn) c.-831A>T (n.-831A>T) | |
5 | g.177211565C>A | CA362322417 | NSD1 | c.2293C>A (p.Leu765Met) n.612+7273C>A n.2749C>A c.2857C>A (p.Leu953Met) n.2563C>A c.3166C>A (p.Leu1056Met) n.3313C>A c.2359C>A (p.Leu787Met) c.2746C>A (p.Leu916Met) c.2110C>A (p.Leu704Met) c.-830C>A (n.-830C>A) | dbSNP |
5 | g.177211565C= | CA1603478244 | NSD1 | c.2293C= (p.Leu765=) n.612+7273C= n.2749C= c.2857C= (p.Leu953=) n.2563C= c.3166C= (p.Leu1056=) n.3313C= c.2359C= (p.Leu787=) c.2746C= (p.Leu916=) c.2110C= (p.Leu704=) c.-830C= (n.-830C=) | |
5 | g.177211565C>G | CA3577388 | NSD1 | c.2293C>G (p.Leu765Val) n.612+7273C>G n.2749C>G c.2857C>G (p.Leu953Val) n.2563C>G c.3166C>G (p.Leu1056Val) n.3313C>G c.2359C>G (p.Leu787Val) c.2746C>G (p.Leu916Val) c.2110C>G (p.Leu704Val) c.-830C>G (n.-830C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211565C>T | CA447960959 | NSD1 | c.2293C>T (p.Leu765=) n.612+7273C>T n.2749C>T c.2857C>T (p.Leu953=) n.2563C>T c.3166C>T (p.Leu1056=) n.3313C>T c.2359C>T (p.Leu787=) c.2746C>T (p.Leu916=) c.2110C>T (p.Leu704=) c.-830C>T (n.-830C>T) | dbSNP |
5 | g.177211566T>A | CA362322423 | NSD1 | c.2294T>A (p.Leu765Gln) n.612+7274T>A n.2750T>A c.2858T>A (p.Leu953Gln) n.2564T>A c.3167T>A (p.Leu1056Gln) n.3314T>A c.2360T>A (p.Leu787Gln) c.2747T>A (p.Leu916Gln) c.2111T>A (p.Leu704Gln) c.-829T>A (n.-829T>A) | |
5 | g.177211566T>C | CA362322418 | NSD1 | c.2294T>C (p.Leu765Pro) n.612+7274T>C n.2750T>C c.2858T>C (p.Leu953Pro) n.2564T>C c.3167T>C (p.Leu1056Pro) n.3314T>C c.2360T>C (p.Leu787Pro) c.2747T>C (p.Leu916Pro) c.2111T>C (p.Leu704Pro) c.-829T>C (n.-829T>C) | gnomAD v4 |
5 | g.177211566T>G | CA362322421 | NSD1 | c.2294T>G (p.Leu765Arg) n.612+7274T>G n.2750T>G c.2858T>G (p.Leu953Arg) n.2564T>G c.3167T>G (p.Leu1056Arg) n.3314T>G c.2360T>G (p.Leu787Arg) c.2747T>G (p.Leu916Arg) c.2111T>G (p.Leu704Arg) c.-829T>G (n.-829T>G) | gnomAD v4 |
5 | g.177211567G>A | CA447960963 | NSD1 | c.2295G>A (p.Leu765=) n.612+7275G>A n.2751G>A c.2859G>A (p.Leu953=) n.2565G>A c.3168G>A (p.Leu1056=) n.3315G>A c.2361G>A (p.Leu787=) c.2748G>A (p.Leu916=) c.2112G>A (p.Leu704=) c.-828G>A (n.-828G>A) | dbSNP |
5 | g.177211567G>C | CA447960964 | NSD1 | c.2295G>C (p.Leu765=) n.612+7275G>C n.2751G>C c.2859G>C (p.Leu953=) n.2565G>C c.3168G>C (p.Leu1056=) n.3315G>C c.2361G>C (p.Leu787=) c.2748G>C (p.Leu916=) c.2112G>C (p.Leu704=) c.-828G>C (n.-828G>C) | |
5 | g.177211567G>T | CA447960965 | NSD1 | c.2295G>T (p.Leu765=) n.612+7275G>T n.2751G>T c.2859G>T (p.Leu953=) n.2565G>T c.3168G>T (p.Leu1056=) n.3315G>T c.2361G>T (p.Leu787=) c.2748G>T (p.Leu916=) c.2112G>T (p.Leu704=) c.-828G>T (n.-828G>T) | |
5 | g.177211568A= | CA1603478252 | NSD1 | c.2296A= (p.Asn766=) n.612+7276A= n.2752A= c.2860A= (p.Asn954=) n.2566A= c.3169A= (p.Asn1057=) n.3316A= c.2362A= (p.Asn788=) c.2749A= (p.Asn917=) c.2113A= (p.Asn705=) c.-827A= (n.-827A=) | |
5 | g.177211568A>C | CA362322430 | NSD1 | c.2296A>C (p.Asn766His) n.612+7276A>C n.2752A>C c.2860A>C (p.Asn954His) n.2566A>C c.3169A>C (p.Asn1057His) n.3316A>C c.2362A>C (p.Asn788His) c.2749A>C (p.Asn917His) c.2113A>C (p.Asn705His) c.-827A>C (n.-827A>C) | |
5 | g.177211568A>G | CA362322435 | NSD1 | c.2296A>G (p.Asn766Asp) n.612+7276A>G n.2752A>G c.2860A>G (p.Asn954Asp) n.2566A>G c.3169A>G (p.Asn1057Asp) n.3316A>G c.2362A>G (p.Asn788Asp) c.2749A>G (p.Asn917Asp) c.2113A>G (p.Asn705Asp) c.-827A>G (n.-827A>G) | |
5 | g.177211568A>T | CA132831078 | NSD1 | c.2296A>T (p.Asn766Tyr) n.612+7276A>T n.2752A>T c.2860A>T (p.Asn954Tyr) n.2566A>T c.3169A>T (p.Asn1057Tyr) n.3316A>T c.2362A>T (p.Asn788Tyr) c.2749A>T (p.Asn917Tyr) c.2113A>T (p.Asn705Tyr) c.-827A>T (n.-827A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211569A>C | CA362322450 | NSD1 | c.2297A>C (p.Asn766Thr) n.612+7277A>C n.2753A>C c.2861A>C (p.Asn954Thr) n.2567A>C c.3170A>C (p.Asn1057Thr) n.3317A>C c.2363A>C (p.Asn788Thr) c.2750A>C (p.Asn917Thr) c.2114A>C (p.Asn705Thr) c.-826A>C (n.-826A>C) | |
5 | g.177211569A>G | CA362322453 | NSD1 | c.2297A>G (p.Asn766Ser) n.612+7277A>G n.2753A>G c.2861A>G (p.Asn954Ser) n.2567A>G c.3170A>G (p.Asn1057Ser) n.3317A>G c.2363A>G (p.Asn788Ser) c.2750A>G (p.Asn917Ser) c.2114A>G (p.Asn705Ser) c.-826A>G (n.-826A>G) | gnomAD v4 |
5 | g.177211569A>T | CA362322457 | NSD1 | c.2297A>T (p.Asn766Ile) n.612+7277A>T n.2753A>T c.2861A>T (p.Asn954Ile) n.2567A>T c.3170A>T (p.Asn1057Ile) n.3317A>T c.2363A>T (p.Asn788Ile) c.2750A>T (p.Asn917Ile) c.2114A>T (p.Asn705Ile) c.-826A>T (n.-826A>T) | |
5 | g.177211570T>A | CA362322461 | NSD1 | c.2298T>A (p.Asn766Lys) n.612+7278T>A n.2754T>A c.2862T>A (p.Asn954Lys) n.2568T>A c.3171T>A (p.Asn1057Lys) n.3318T>A c.2364T>A (p.Asn788Lys) c.2751T>A (p.Asn917Lys) c.2115T>A (p.Asn705Lys) c.-825T>A (n.-825T>A) | |
5 | g.177211570T>C | CA447960701 | NSD1 | c.2298T>C (p.Asn766=) n.612+7278T>C n.2754T>C c.2862T>C (p.Asn954=) n.2568T>C c.3171T>C (p.Asn1057=) n.3318T>C c.2364T>C (p.Asn788=) c.2751T>C (p.Asn917=) c.2115T>C (p.Asn705=) c.-825T>C (n.-825T>C) | ClinVar dbSNP gnomAD v4 |
5 | g.177211570T>G | CA362322462 | NSD1 | c.2298T>G (p.Asn766Lys) n.612+7278T>G n.2754T>G c.2862T>G (p.Asn954Lys) n.2568T>G c.3171T>G (p.Asn1057Lys) n.3318T>G c.2364T>G (p.Asn788Lys) c.2751T>G (p.Asn917Lys) c.2115T>G (p.Asn705Lys) c.-825T>G (n.-825T>G) | |
5 | g.177211570T= | CA1603478258 | NSD1 | c.2298T= (p.Asn766=) n.612+7278T= n.2754T= c.2862T= (p.Asn954=) n.2568T= c.3171T= (p.Asn1057=) n.3318T= c.2364T= (p.Asn788=) c.2751T= (p.Asn917=) c.2115T= (p.Asn705=) c.-825T= (n.-825T=) | |
5 | g.177211571C>A | CA362322463 | NSD1 | c.2299C>A (p.Gln767Lys) n.612+7279C>A n.2755C>A c.2863C>A (p.Gln955Lys) n.2569C>A c.3172C>A (p.Gln1058Lys) n.3319C>A c.2365C>A (p.Gln789Lys) c.2752C>A (p.Gln918Lys) c.2116C>A (p.Gln706Lys) c.-824C>A (n.-824C>A) | |
5 | g.177211571C= | CA1603478265 | NSD1 | c.2299C= (p.Gln767=) n.612+7279C= n.2755C= c.2863C= (p.Gln955=) n.2569C= c.3172C= (p.Gln1058=) n.3319C= c.2365C= (p.Gln789=) c.2752C= (p.Gln918=) c.2116C= (p.Gln706=) c.-824C= (n.-824C=) | |
5 | g.177211571C>G | CA362322466 | NSD1 | c.2299C>G (p.Gln767Glu) n.612+7279C>G n.2755C>G c.2863C>G (p.Gln955Glu) n.2569C>G c.3172C>G (p.Gln1058Glu) n.3319C>G c.2365C>G (p.Gln789Glu) c.2752C>G (p.Gln918Glu) c.2116C>G (p.Gln706Glu) c.-824C>G (n.-824C>G) | |
5 | g.177211571C>T | CA362322468 | NSD1 | c.2299C>T (p.Gln767Ter) n.612+7279C>T n.2755C>T c.2863C>T (p.Gln955Ter) n.2569C>T c.3172C>T (p.Gln1058Ter) n.3319C>T c.2365C>T (p.Gln789Ter) c.2752C>T (p.Gln918Ter) c.2116C>T (p.Gln706Ter) c.-824C>T (n.-824C>T) | ClinVar dbSNP |
5 | g.177211572A= | CA1603478272 | NSD1 | c.2300A= (p.Gln767=) n.612+7280A= n.2756A= c.2864A= (p.Gln955=) n.2570A= c.3173A= (p.Gln1058=) n.3320A= c.2366A= (p.Gln789=) c.2753A= (p.Gln918=) c.2117A= (p.Gln706=) c.-823A= (n.-823A=) | |
5 | g.177211572A>C | CA362322477 | NSD1 | c.2300A>C (p.Gln767Pro) n.612+7280A>C n.2756A>C c.2864A>C (p.Gln955Pro) n.2570A>C c.3173A>C (p.Gln1058Pro) n.3320A>C c.2366A>C (p.Gln789Pro) c.2753A>C (p.Gln918Pro) c.2117A>C (p.Gln706Pro) c.-823A>C (n.-823A>C) | |
5 | g.177211572A>G | CA362322482 | NSD1 | c.2300A>G (p.Gln767Arg) n.612+7280A>G n.2756A>G c.2864A>G (p.Gln955Arg) n.2570A>G c.3173A>G (p.Gln1058Arg) n.3320A>G c.2366A>G (p.Gln789Arg) c.2753A>G (p.Gln918Arg) c.2117A>G (p.Gln706Arg) c.-823A>G (n.-823A>G) | dbSNP gnomAD v4 |
5 | g.177211572A>T | CA362322473 | NSD1 | c.2300A>T (p.Gln767Leu) n.612+7280A>T n.2756A>T c.2864A>T (p.Gln955Leu) n.2570A>T c.3173A>T (p.Gln1058Leu) n.3320A>T c.2366A>T (p.Gln789Leu) c.2753A>T (p.Gln918Leu) c.2117A>T (p.Gln706Leu) c.-823A>T (n.-823A>T) | |
5 | g.177211573G>A | CA447960715 | NSD1 | c.2301G>A (p.Gln767=) n.612+7281G>A n.2757G>A c.2865G>A (p.Gln955=) n.2571G>A c.3174G>A (p.Gln1058=) n.3321G>A c.2367G>A (p.Gln789=) c.2754G>A (p.Gln918=) c.2118G>A (p.Gln706=) c.-822G>A (n.-822G>A) | dbSNP |
5 | g.177211573G>C | CA362322484 | NSD1 | c.2301G>C (p.Gln767His) n.612+7281G>C n.2757G>C c.2865G>C (p.Gln955His) n.2571G>C c.3174G>C (p.Gln1058His) n.3321G>C c.2367G>C (p.Gln789His) c.2754G>C (p.Gln918His) c.2118G>C (p.Gln706His) c.-822G>C (n.-822G>C) | |
5 | g.177211573G= | CA1603478281 | NSD1 | c.2301G= (p.Gln767=) n.612+7281G= n.2757G= c.2865G= (p.Gln955=) n.2571G= c.3174G= (p.Gln1058=) n.3321G= c.2367G= (p.Gln789=) c.2754G= (p.Gln918=) c.2118G= (p.Gln706=) c.-822G= (n.-822G=) | |
5 | g.177211573G>T | CA362322485 | NSD1 | c.2301G>T (p.Gln767His) n.612+7281G>T n.2757G>T c.2865G>T (p.Gln955His) n.2571G>T c.3174G>T (p.Gln1058His) n.3321G>T c.2367G>T (p.Gln789His) c.2754G>T (p.Gln918His) c.2118G>T (p.Gln706His) c.-822G>T (n.-822G>T) | |
5 | g.177211573_177211575delinsAG | CA2695202828 | NSD1 | c.2301_2303delinsAG (p.Leu768ValfsTer4) n.612+7281_612+7283delinsAG n.2757_2759delinsAG c.2865_2867delinsAG (p.Leu956ValfsTer4) n.2571_2573delinsAG c.3174_3176delinsAG (p.Leu1059ValfsTer4) n.3321_3323delinsAG c.2367_2369delinsAG (p.Leu790ValfsTer4) c.2754_2756delinsAG (p.Leu919ValfsTer4) c.2118_2120delinsAG (p.Leu707ValfsTer4) c.-822_-820delinsAG (n.-822_-820delinsAG) | |
5 | g.177211574C>A | CA362322488 | NSD1 | c.2302C>A (p.Leu768Ile) n.612+7282C>A n.2758C>A c.2866C>A (p.Leu956Ile) n.2572C>A c.3175C>A (p.Leu1059Ile) n.3322C>A c.2368C>A (p.Leu790Ile) c.2755C>A (p.Leu919Ile) c.2119C>A (p.Leu707Ile) c.-821C>A (n.-821C>A) | |
5 | g.177211574C= | CA1603478286 | NSD1 | c.2302C= (p.Leu768=) n.612+7282C= n.2758C= c.2866C= (p.Leu956=) n.2572C= c.3175C= (p.Leu1059=) n.3322C= c.2368C= (p.Leu790=) c.2755C= (p.Leu919=) c.2119C= (p.Leu707=) c.-821C= (n.-821C=) | |
5 | g.177211574C>G | CA362322493 | NSD1 | c.2302C>G (p.Leu768Val) n.612+7282C>G n.2758C>G c.2866C>G (p.Leu956Val) n.2572C>G c.3175C>G (p.Leu1059Val) n.3322C>G c.2368C>G (p.Leu790Val) c.2755C>G (p.Leu919Val) c.2119C>G (p.Leu707Val) c.-821C>G (n.-821C>G) | |
5 | g.177211574C>T | CA3577389 | NSD1 | c.2302C>T (p.Leu768Phe) n.612+7282C>T n.2758C>T c.2866C>T (p.Leu956Phe) n.2572C>T c.3175C>T (p.Leu1059Phe) n.3322C>T c.2368C>T (p.Leu790Phe) c.2755C>T (p.Leu919Phe) c.2119C>T (p.Leu707Phe) c.-821C>T (n.-821C>T) | dbSNP ExAC |
5 | g.177211575T>A | CA362322517 | NSD1 | c.2303T>A (p.Leu768His) n.612+7283T>A n.2759T>A c.2867T>A (p.Leu956His) n.2573T>A c.3176T>A (p.Leu1059His) n.3323T>A c.2369T>A (p.Leu790His) c.2756T>A (p.Leu919His) c.2120T>A (p.Leu707His) c.-820T>A (n.-820T>A) | |
5 | g.177211575T>C | CA362322506 | NSD1 | c.2303T>C (p.Leu768Pro) n.612+7283T>C n.2759T>C c.2867T>C (p.Leu956Pro) n.2573T>C c.3176T>C (p.Leu1059Pro) n.3323T>C c.2369T>C (p.Leu790Pro) c.2756T>C (p.Leu919Pro) c.2120T>C (p.Leu707Pro) c.-820T>C (n.-820T>C) | |
5 | g.177211575T>G | CA362322502 | NSD1 | c.2303T>G (p.Leu768Arg) n.612+7283T>G n.2759T>G c.2867T>G (p.Leu956Arg) n.2573T>G c.3176T>G (p.Leu1059Arg) n.3323T>G c.2369T>G (p.Leu790Arg) c.2756T>G (p.Leu919Arg) c.2120T>G (p.Leu707Arg) c.-820T>G (n.-820T>G) | |
5 | g.177211576T>A | CA447960727 | NSD1 | c.2304T>A (p.Leu768=) n.612+7284T>A n.2760T>A c.2868T>A (p.Leu956=) n.2574T>A c.3177T>A (p.Leu1059=) n.3324T>A c.2370T>A (p.Leu790=) c.2757T>A (p.Leu919=) c.2121T>A (p.Leu707=) c.-819T>A (n.-819T>A) | |
5 | g.177211576T>C | CA447960730 | NSD1 | c.2304T>C (p.Leu768=) n.612+7284T>C n.2760T>C c.2868T>C (p.Leu956=) n.2574T>C c.3177T>C (p.Leu1059=) n.3324T>C c.2370T>C (p.Leu790=) c.2757T>C (p.Leu919=) c.2121T>C (p.Leu707=) c.-819T>C (n.-819T>C) | |
5 | g.177211576T>G | CA447960732 | NSD1 | c.2304T>G (p.Leu768=) n.612+7284T>G n.2760T>G c.2868T>G (p.Leu956=) n.2574T>G c.3177T>G (p.Leu1059=) n.3324T>G c.2370T>G (p.Leu790=) c.2757T>G (p.Leu919=) c.2121T>G (p.Leu707=) c.-819T>G (n.-819T>G) | |
5 | g.177211577C>A | CA362322521 | NSD1 | c.2305C>A (p.Pro769Thr) n.612+7285C>A n.2761C>A c.2869C>A (p.Pro957Thr) n.2575C>A c.3178C>A (p.Pro1060Thr) n.3325C>A c.2371C>A (p.Pro791Thr) c.2758C>A (p.Pro920Thr) c.2122C>A (p.Pro708Thr) c.-818C>A (n.-818C>A) | dbSNP |
5 | g.177211577C= | CA1603478332 | NSD1 | c.2305C= (p.Pro769=) n.612+7285C= n.2761C= c.2869C= (p.Pro957=) n.2575C= c.3178C= (p.Pro1060=) n.3325C= c.2371C= (p.Pro791=) c.2758C= (p.Pro920=) c.2122C= (p.Pro708=) c.-818C= (n.-818C=) | |
5 | g.177211577C>G | CA362322527 | NSD1 | c.2305C>G (p.Pro769Ala) n.612+7285C>G n.2761C>G c.2869C>G (p.Pro957Ala) n.2575C>G c.3178C>G (p.Pro1060Ala) n.3325C>G c.2371C>G (p.Pro791Ala) c.2758C>G (p.Pro920Ala) c.2122C>G (p.Pro708Ala) c.-818C>G (n.-818C>G) | ClinVar |
5 | g.177211577C>T | CA3577390 | NSD1 | c.2305C>T (p.Pro769Ser) n.612+7285C>T n.2761C>T c.2869C>T (p.Pro957Ser) n.2575C>T c.3178C>T (p.Pro1060Ser) n.3325C>T c.2371C>T (p.Pro791Ser) c.2758C>T (p.Pro920Ser) c.2122C>T (p.Pro708Ser) c.-818C>T (n.-818C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211578C>A | CA362322533 | NSD1 | c.2306C>A (p.Pro769Gln) n.612+7286C>A n.2762C>A c.2870C>A (p.Pro957Gln) n.2576C>A c.3179C>A (p.Pro1060Gln) n.3326C>A c.2372C>A (p.Pro791Gln) c.2759C>A (p.Pro920Gln) c.2123C>A (p.Pro708Gln) c.-817C>A (n.-817C>A) | dbSNP gnomAD v4 |
5 | g.177211578C>G | CA362322536 | NSD1 | c.2306C>G (p.Pro769Arg) n.612+7286C>G n.2762C>G c.2870C>G (p.Pro957Arg) n.2576C>G c.3179C>G (p.Pro1060Arg) n.3326C>G c.2372C>G (p.Pro791Arg) c.2759C>G (p.Pro920Arg) c.2123C>G (p.Pro708Arg) c.-817C>G (n.-817C>G) | |
5 | g.177211578C>T | CA362322540 | NSD1 | c.2306C>T (p.Pro769Leu) n.612+7286C>T n.2762C>T c.2870C>T (p.Pro957Leu) n.2576C>T c.3179C>T (p.Pro1060Leu) n.3326C>T c.2372C>T (p.Pro791Leu) c.2759C>T (p.Pro920Leu) c.2123C>T (p.Pro708Leu) c.-817C>T (n.-817C>T) | gnomAD v4 |
5 | g.177211579A>C | CA447960745 | NSD1 | c.2307A>C (p.Pro769=) n.612+7287A>C n.2763A>C c.2871A>C (p.Pro957=) n.2577A>C c.3180A>C (p.Pro1060=) n.3327A>C c.2373A>C (p.Pro791=) c.2760A>C (p.Pro920=) c.2124A>C (p.Pro708=) c.-816A>C (n.-816A>C) | |
5 | g.177211579A>G | CA447960748 | NSD1 | c.2307A>G (p.Pro769=) n.612+7287A>G n.2763A>G c.2871A>G (p.Pro957=) n.2577A>G c.3180A>G (p.Pro1060=) n.3327A>G c.2373A>G (p.Pro791=) c.2760A>G (p.Pro920=) c.2124A>G (p.Pro708=) c.-816A>G (n.-816A>G) | gnomAD v4 |
5 | g.177211579A>T | CA447960749 | NSD1 | c.2307A>T (p.Pro769=) n.612+7287A>T n.2763A>T c.2871A>T (p.Pro957=) n.2577A>T c.3180A>T (p.Pro1060=) n.3327A>T c.2373A>T (p.Pro791=) c.2760A>T (p.Pro920=) c.2124A>T (p.Pro708=) c.-816A>T (n.-816A>T) | |
5 | g.177211580A= | CA1603478342 | NSD1 | c.2308A= (p.Ser770=) n.612+7288A= n.2764A= c.2872A= (p.Ser958=) n.2578A= c.3181A= (p.Ser1061=) n.3328A= c.2374A= (p.Ser792=) c.2761A= (p.Ser921=) c.2125A= (p.Ser709=) c.-815A= (n.-815A=) | |
5 | g.177211580A>C | CA362322547 | NSD1 | c.2308A>C (p.Ser770Arg) n.612+7288A>C n.2764A>C c.2872A>C (p.Ser958Arg) n.2578A>C c.3181A>C (p.Ser1061Arg) n.3328A>C c.2374A>C (p.Ser792Arg) c.2761A>C (p.Ser921Arg) c.2125A>C (p.Ser709Arg) c.-815A>C (n.-815A>C) | gnomAD v4 |
5 | g.177211580A>G | CA3577391 | NSD1 | c.2308A>G (p.Ser770Gly) n.612+7288A>G n.2764A>G c.2872A>G (p.Ser958Gly) n.2578A>G c.3181A>G (p.Ser1061Gly) n.3328A>G c.2374A>G (p.Ser792Gly) c.2761A>G (p.Ser921Gly) c.2125A>G (p.Ser709Gly) c.-815A>G (n.-815A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211580A>T | CA3577392 | NSD1 | c.2308A>T (p.Ser770Cys) n.612+7288A>T n.2764A>T c.2872A>T (p.Ser958Cys) n.2578A>T c.3181A>T (p.Ser1061Cys) n.3328A>T c.2374A>T (p.Ser792Cys) c.2761A>T (p.Ser921Cys) c.2125A>T (p.Ser709Cys) c.-815A>T (n.-815A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211580_177211582delinsAGT | CA1603478340 | NSD1 | c.2308_2310delinsAGT (p.Ser770=) n.612+7288_612+7290delinsAGT n.2764_2766delinsAGT c.2872_2874delinsAGT (p.Ser958=) n.2578_2580delinsAGT c.3181_3183delinsAGT (p.Ser1061=) n.3328_3330delinsAGT c.2374_2376delinsAGT (p.Ser792=) c.2761_2763delinsAGT (p.Ser921=) c.2125_2127delinsAGT (p.Ser709=) c.-815_-813delinsAGT (n.-815_-813delinsAGT) | |
5 | g.177211581G>A | CA362322583 | NSD1 | c.2309G>A (p.Ser770Asn) n.612+7289G>A n.2765G>A c.2873G>A (p.Ser958Asn) n.2579G>A c.3182G>A (p.Ser1061Asn) n.3329G>A c.2375G>A (p.Ser792Asn) c.2762G>A (p.Ser921Asn) c.2126G>A (p.Ser709Asn) c.-814G>A (n.-814G>A) | dbSNP |
5 | g.177211581G>C | CA362322587 | NSD1 | c.2309G>C (p.Ser770Thr) n.612+7289G>C n.2765G>C c.2873G>C (p.Ser958Thr) n.2579G>C c.3182G>C (p.Ser1061Thr) n.3329G>C c.2375G>C (p.Ser792Thr) c.2762G>C (p.Ser921Thr) c.2126G>C (p.Ser709Thr) c.-814G>C (n.-814G>C) | dbSNP |
5 | g.177211581G= | CA1603478349 | NSD1 | c.2309G= (p.Ser770=) n.612+7289G= n.2765G= c.2873G= (p.Ser958=) n.2579G= c.3182G= (p.Ser1061=) n.3329G= c.2375G= (p.Ser792=) c.2762G= (p.Ser921=) c.2126G= (p.Ser709=) c.-814G= (n.-814G=) | |
5 | g.177211581G>T | CA362322590 | NSD1 | c.2309G>T (p.Ser770Ile) n.612+7289G>T n.2765G>T c.2873G>T (p.Ser958Ile) n.2579G>T c.3182G>T (p.Ser1061Ile) n.3329G>T c.2375G>T (p.Ser792Ile) c.2762G>T (p.Ser921Ile) c.2126G>T (p.Ser709Ile) c.-814G>T (n.-814G>T) | |
5 | g.177211584_177211585del | CA294845 | NSD1 | c.2312_2313del (p.Val771AspfsTer3) n.612+7292_612+7293del n.2768_2769del c.2876_2877del (p.Val959AspfsTer3) n.2582_2583del c.3185_3186del (p.Val1062AspfsTer3) n.3332_3333del c.2378_2379del (p.Val793AspfsTer3) c.2765_2766del (p.Val922AspfsTer3) c.2129_2130del (p.Val710AspfsTer3) c.-811_-810del (n.-811_-810del) | ClinVar dbSNP |
5 | g.177211582T>A | CA362322609 | NSD1 | c.2310T>A (p.Ser770Arg) n.612+7290T>A n.2766T>A c.2874T>A (p.Ser958Arg) n.2580T>A c.3183T>A (p.Ser1061Arg) n.3330T>A c.2376T>A (p.Ser792Arg) c.2763T>A (p.Ser921Arg) c.2127T>A (p.Ser709Arg) c.-813T>A (n.-813T>A) | |
5 | g.177211582T>C | CA447960766 | NSD1 | c.2310T>C (p.Ser770=) n.612+7290T>C n.2766T>C c.2874T>C (p.Ser958=) n.2580T>C c.3183T>C (p.Ser1061=) n.3330T>C c.2376T>C (p.Ser792=) c.2763T>C (p.Ser921=) c.2127T>C (p.Ser709=) c.-813T>C (n.-813T>C) | |
5 | g.177211582T>G | CA3577393 | NSD1 | c.2310T>G (p.Ser770Arg) n.612+7290T>G n.2766T>G c.2874T>G (p.Ser958Arg) n.2580T>G c.3183T>G (p.Ser1061Arg) n.3330T>G c.2376T>G (p.Ser792Arg) c.2763T>G (p.Ser921Arg) c.2127T>G (p.Ser709Arg) c.-813T>G (n.-813T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211582T= | CA1603478355 | NSD1 | c.2310T= (p.Ser770=) n.612+7290T= n.2766T= c.2874T= (p.Ser958=) n.2580T= c.3183T= (p.Ser1061=) n.3330T= c.2376T= (p.Ser792=) c.2763T= (p.Ser921=) c.2127T= (p.Ser709=) c.-813T= (n.-813T=) | |
5 | g.177211583G>A | CA362322615 | NSD1 | c.2311G>A (p.Val771Met) n.612+7291G>A n.2767G>A c.2875G>A (p.Val959Met) n.2581G>A c.3184G>A (p.Val1062Met) n.3331G>A c.2377G>A (p.Val793Met) c.2764G>A (p.Val922Met) c.2128G>A (p.Val710Met) c.-812G>A (n.-812G>A) | gnomAD v4 |
5 | g.177211583G>C | CA362322616 | NSD1 | c.2311G>C (p.Val771Leu) n.612+7291G>C n.2767G>C c.2875G>C (p.Val959Leu) n.2581G>C c.3184G>C (p.Val1062Leu) n.3331G>C c.2377G>C (p.Val793Leu) c.2764G>C (p.Val922Leu) c.2128G>C (p.Val710Leu) c.-812G>C (n.-812G>C) | |
5 | g.177211583G>T | CA362322617 | NSD1 | c.2311G>T (p.Val771Leu) n.612+7291G>T n.2767G>T c.2875G>T (p.Val959Leu) n.2581G>T c.3184G>T (p.Val1062Leu) n.3331G>T c.2377G>T (p.Val793Leu) c.2764G>T (p.Val922Leu) c.2128G>T (p.Val710Leu) c.-812G>T (n.-812G>T) | |
5 | g.177211584T>A | CA362322621 | NSD1 | c.2312T>A (p.Val771Glu) n.612+7292T>A n.2768T>A c.2876T>A (p.Val959Glu) n.2582T>A c.3185T>A (p.Val1062Glu) n.3332T>A c.2378T>A (p.Val793Glu) c.2765T>A (p.Val922Glu) c.2129T>A (p.Val710Glu) c.-811T>A (n.-811T>A) | |
5 | g.177211584T>C | CA362322623 | NSD1 | c.2312T>C (p.Val771Ala) n.612+7292T>C n.2768T>C c.2876T>C (p.Val959Ala) n.2582T>C c.3185T>C (p.Val1062Ala) n.3332T>C c.2378T>C (p.Val793Ala) c.2765T>C (p.Val922Ala) c.2129T>C (p.Val710Ala) c.-811T>C (n.-811T>C) | |
5 | g.177211584T>G | CA362322626 | NSD1 | c.2312T>G (p.Val771Gly) n.612+7292T>G n.2768T>G c.2876T>G (p.Val959Gly) n.2582T>G c.3185T>G (p.Val1062Gly) n.3332T>G c.2378T>G (p.Val793Gly) c.2765T>G (p.Val922Gly) c.2129T>G (p.Val710Gly) c.-811T>G (n.-811T>G) | |
5 | g.177211585G>A | CA447960775 | NSD1 | c.2313G>A (p.Val771=) n.612+7293G>A n.2769G>A c.2877G>A (p.Val959=) n.2583G>A c.3186G>A (p.Val1062=) n.3333G>A c.2379G>A (p.Val793=) c.2766G>A (p.Val922=) c.2130G>A (p.Val710=) c.-810G>A (n.-810G>A) | |
5 | g.177211585G>C | CA447960772 | NSD1 | c.2313G>C (p.Val771=) n.612+7293G>C n.2769G>C c.2877G>C (p.Val959=) n.2583G>C c.3186G>C (p.Val1062=) n.3333G>C c.2379G>C (p.Val793=) c.2766G>C (p.Val922=) c.2130G>C (p.Val710=) c.-810G>C (n.-810G>C) | |
5 | g.177211585G>T | CA447960773 | NSD1 | c.2313G>T (p.Val771=) n.612+7293G>T n.2769G>T c.2877G>T (p.Val959=) n.2583G>T c.3186G>T (p.Val1062=) n.3333G>T c.2379G>T (p.Val793=) c.2766G>T (p.Val922=) c.2130G>T (p.Val710=) c.-810G>T (n.-810G>T) | dbSNP |
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) |