Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177211546G>ACA447960934NSD1c.2274G>A (p.Lys758=)
n.612+7254G>A
n.2730G>A
c.2838G>A (p.Lys946=)
n.2544G>A
c.3147G>A (p.Lys1049=)
n.3294G>A
c.2340G>A (p.Lys780=)
c.2727G>A (p.Lys909=)
c.2091G>A (p.Lys697=)
c.-849G>A (n.-849G>A)
5g.177211546G>CCA362322304NSD1c.2274G>C (p.Lys758Asn)
n.612+7254G>C
n.2730G>C
c.2838G>C (p.Lys946Asn)
n.2544G>C
c.3147G>C (p.Lys1049Asn)
n.3294G>C
c.2340G>C (p.Lys780Asn)
c.2727G>C (p.Lys909Asn)
c.2091G>C (p.Lys697Asn)
c.-849G>C (n.-849G>C)
5g.177211546G>TCA362322306NSD1c.2274G>T (p.Lys758Asn)
n.612+7254G>T
n.2730G>T
c.2838G>T (p.Lys946Asn)
n.2544G>T
c.3147G>T (p.Lys1049Asn)
n.3294G>T
c.2340G>T (p.Lys780Asn)
c.2727G>T (p.Lys909Asn)
c.2091G>T (p.Lys697Asn)
c.-849G>T (n.-849G>T)
5g.177211547A>CCA362322310NSD1c.2275A>C (p.Thr759Pro)
n.612+7255A>C
n.2731A>C
c.2839A>C (p.Thr947Pro)
n.2545A>C
c.3148A>C (p.Thr1050Pro)
n.3295A>C
c.2341A>C (p.Thr781Pro)
c.2728A>C (p.Thr910Pro)
c.2092A>C (p.Thr698Pro)
c.-848A>C (n.-848A>C)
5g.177211547A>GCA362322312NSD1c.2275A>G (p.Thr759Ala)
n.612+7255A>G
n.2731A>G
c.2839A>G (p.Thr947Ala)
n.2545A>G
c.3148A>G (p.Thr1050Ala)
n.3295A>G
c.2341A>G (p.Thr781Ala)
c.2728A>G (p.Thr910Ala)
c.2092A>G (p.Thr698Ala)
c.-848A>G (n.-848A>G)
5g.177211547A>TCA362322315NSD1c.2275A>T (p.Thr759Ser)
n.612+7255A>T
n.2731A>T
c.2839A>T (p.Thr947Ser)
n.2545A>T
c.3148A>T (p.Thr1050Ser)
n.3295A>T
c.2341A>T (p.Thr781Ser)
c.2728A>T (p.Thr910Ser)
c.2092A>T (p.Thr698Ser)
c.-848A>T (n.-848A>T)
5g.177211548C>ACA362322319NSD1c.2276C>A (p.Thr759Asn)
n.612+7256C>A
n.2732C>A
c.2840C>A (p.Thr947Asn)
n.2546C>A
c.3149C>A (p.Thr1050Asn)
n.3296C>A
c.2342C>A (p.Thr781Asn)
c.2729C>A (p.Thr910Asn)
c.2093C>A (p.Thr698Asn)
c.-847C>A (n.-847C>A)
dbSNP
5g.177211548C>GCA362322322NSD1c.2276C>G (p.Thr759Ser)
n.612+7256C>G
n.2732C>G
c.2840C>G (p.Thr947Ser)
n.2546C>G
c.3149C>G (p.Thr1050Ser)
n.3296C>G
c.2342C>G (p.Thr781Ser)
c.2729C>G (p.Thr910Ser)
c.2093C>G (p.Thr698Ser)
c.-847C>G (n.-847C>G)
dbSNP
5g.177211548C>TCA362322323NSD1c.2276C>T (p.Thr759Ile)
n.612+7256C>T
n.2732C>T
c.2840C>T (p.Thr947Ile)
n.2546C>T
c.3149C>T (p.Thr1050Ile)
n.3296C>T
c.2342C>T (p.Thr781Ile)
c.2729C>T (p.Thr910Ile)
c.2093C>T (p.Thr698Ile)
c.-847C>T (n.-847C>T)
gnomAD v4
5g.177211549C>ACA447960941NSD1c.2277C>A (p.Thr759=)
n.612+7257C>A
n.2733C>A
c.2841C>A (p.Thr947=)
n.2547C>A
c.3150C>A (p.Thr1050=)
n.3297C>A
c.2343C>A (p.Thr781=)
c.2730C>A (p.Thr910=)
c.2094C>A (p.Thr698=)
c.-846C>A (n.-846C>A)
dbSNP gnomAD v4
5g.177211549C=CA1603478179NSD1c.2277C= (p.Thr759=)
n.612+7257C=
n.2733C=
c.2841C= (p.Thr947=)
n.2547C=
c.3150C= (p.Thr1050=)
n.3297C=
c.2343C= (p.Thr781=)
c.2730C= (p.Thr910=)
c.2094C= (p.Thr698=)
c.-846C= (n.-846C=)
5g.177211549C>GCA447960942NSD1c.2277C>G (p.Thr759=)
n.612+7257C>G
n.2733C>G
c.2841C>G (p.Thr947=)
n.2547C>G
c.3150C>G (p.Thr1050=)
n.3297C>G
c.2343C>G (p.Thr781=)
c.2730C>G (p.Thr910=)
c.2094C>G (p.Thr698=)
c.-846C>G (n.-846C>G)
5g.177211549C>TCA223667NSD1c.2277C>T (p.Thr759=)
n.612+7257C>T
n.2733C>T
c.2841C>T (p.Thr947=)
n.2547C>T
c.3150C>T (p.Thr1050=)
n.3297C>T
c.2343C>T (p.Thr781=)
c.2730C>T (p.Thr910=)
c.2094C>T (p.Thr698=)
c.-846C>T (n.-846C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211550G>ACA3577386NSD1c.2278G>A (p.Glu760Lys)
n.612+7258G>A
n.2734G>A
c.2842G>A (p.Glu948Lys)
n.2548G>A
c.3151G>A (p.Glu1051Lys)
n.3298G>A
c.2344G>A (p.Glu782Lys)
c.2731G>A (p.Glu911Lys)
c.2095G>A (p.Glu699Lys)
c.-845G>A (n.-845G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211550G>CCA362322327NSD1c.2278G>C (p.Glu760Gln)
n.612+7258G>C
n.2734G>C
c.2842G>C (p.Glu948Gln)
n.2548G>C
c.3151G>C (p.Glu1051Gln)
n.3298G>C
c.2344G>C (p.Glu782Gln)
c.2731G>C (p.Glu911Gln)
c.2095G>C (p.Glu699Gln)
c.-845G>C (n.-845G>C)
5g.177211550G=CA1603478183NSD1c.2278G= (p.Glu760=)
n.612+7258G=
n.2734G=
c.2842G= (p.Glu948=)
n.2548G=
c.3151G= (p.Glu1051=)
n.3298G=
c.2344G= (p.Glu782=)
c.2731G= (p.Glu911=)
c.2095G= (p.Glu699=)
c.-845G= (n.-845G=)
5g.177211550G>TCA362322329NSD1c.2278G>T (p.Glu760Ter)
n.612+7258G>T
n.2734G>T
c.2842G>T (p.Glu948Ter)
n.2548G>T
c.3151G>T (p.Glu1051Ter)
n.3298G>T
c.2344G>T (p.Glu782Ter)
c.2731G>T (p.Glu911Ter)
c.2095G>T (p.Glu699Ter)
c.-845G>T (n.-845G>T)
5g.177211551A>CCA362322332NSD1c.2279A>C (p.Glu760Ala)
n.612+7259A>C
n.2735A>C
c.2843A>C (p.Glu948Ala)
n.2549A>C
c.3152A>C (p.Glu1051Ala)
n.3299A>C
c.2345A>C (p.Glu782Ala)
c.2732A>C (p.Glu911Ala)
c.2096A>C (p.Glu699Ala)
c.-844A>C (n.-844A>C)
5g.177211551A>GCA362322333NSD1c.2279A>G (p.Glu760Gly)
n.612+7259A>G
n.2735A>G
c.2843A>G (p.Glu948Gly)
n.2549A>G
c.3152A>G (p.Glu1051Gly)
n.3299A>G
c.2345A>G (p.Glu782Gly)
c.2732A>G (p.Glu911Gly)
c.2096A>G (p.Glu699Gly)
c.-844A>G (n.-844A>G)
5g.177211551A>TCA362322334NSD1c.2279A>T (p.Glu760Val)
n.612+7259A>T
n.2735A>T
c.2843A>T (p.Glu948Val)
n.2549A>T
c.3152A>T (p.Glu1051Val)
n.3299A>T
c.2345A>T (p.Glu782Val)
c.2732A>T (p.Glu911Val)
c.2096A>T (p.Glu699Val)
c.-844A>T (n.-844A>T)
5g.177211552G>ACA447960947NSD1c.2280G>A (p.Glu760=)
n.612+7260G>A
n.2736G>A
c.2844G>A (p.Glu948=)
n.2550G>A
c.3153G>A (p.Glu1051=)
n.3300G>A
c.2346G>A (p.Glu782=)
c.2733G>A (p.Glu911=)
c.2097G>A (p.Glu699=)
c.-843G>A (n.-843G>A)
5g.177211552G>CCA362322337NSD1c.2280G>C (p.Glu760Asp)
n.612+7260G>C
n.2736G>C
c.2844G>C (p.Glu948Asp)
n.2550G>C
c.3153G>C (p.Glu1051Asp)
n.3300G>C
c.2346G>C (p.Glu782Asp)
c.2733G>C (p.Glu911Asp)
c.2097G>C (p.Glu699Asp)
c.-843G>C (n.-843G>C)
5g.177211552G=CA1603478187NSD1c.2280G= (p.Glu760=)
n.612+7260G=
n.2736G=
c.2844G= (p.Glu948=)
n.2550G=
c.3153G= (p.Glu1051=)
n.3300G=
c.2346G= (p.Glu782=)
c.2733G= (p.Glu911=)
c.2097G= (p.Glu699=)
c.-843G= (n.-843G=)
5g.177211552G>TCA362322336NSD1c.2280G>T (p.Glu760Asp)
n.612+7260G>T
n.2736G>T
c.2844G>T (p.Glu948Asp)
n.2550G>T
c.3153G>T (p.Glu1051Asp)
n.3300G>T
c.2346G>T (p.Glu782Asp)
c.2733G>T (p.Glu911Asp)
c.2097G>T (p.Glu699Asp)
c.-843G>T (n.-843G>T)
dbSNP
5g.177211553C>ACA362322338NSD1c.2281C>A (p.Arg761Ser)
n.612+7261C>A
n.2737C>A
c.2845C>A (p.Arg949Ser)
n.2551C>A
c.3154C>A (p.Arg1052Ser)
n.3301C>A
c.2347C>A (p.Arg783Ser)
c.2734C>A (p.Arg912Ser)
c.2098C>A (p.Arg700Ser)
c.-842C>A (n.-842C>A)
dbSNP
5g.177211553C=CA1603478195NSD1c.2281C= (p.Arg761=)
n.612+7261C=
n.2737C=
c.2845C= (p.Arg949=)
n.2551C=
c.3154C= (p.Arg1052=)
n.3301C=
c.2347C= (p.Arg783=)
c.2734C= (p.Arg912=)
c.2098C= (p.Arg700=)
c.-842C= (n.-842C=)
5g.177211553C>GCA362322340NSD1c.2281C>G (p.Arg761Gly)
n.612+7261C>G
n.2737C>G
c.2845C>G (p.Arg949Gly)
n.2551C>G
c.3154C>G (p.Arg1052Gly)
n.3301C>G
c.2347C>G (p.Arg783Gly)
c.2734C>G (p.Arg912Gly)
c.2098C>G (p.Arg700Gly)
c.-842C>G (n.-842C>G)
5g.177211553C>TCA203122NSD1c.2281C>T (p.Arg761Cys)
n.612+7261C>T
n.2737C>T
c.2845C>T (p.Arg949Cys)
n.2551C>T
c.3154C>T (p.Arg1052Cys)
n.3301C>T
c.2347C>T (p.Arg783Cys)
c.2734C>T (p.Arg912Cys)
c.2098C>T (p.Arg700Cys)
c.-842C>T (n.-842C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211554G>ACA362322345NSD1c.2282G>A (p.Arg761His)
n.612+7262G>A
n.2738G>A
c.2846G>A (p.Arg949His)
n.2552G>A
c.3155G>A (p.Arg1052His)
n.3302G>A
c.2348G>A (p.Arg783His)
c.2735G>A (p.Arg912His)
c.2099G>A (p.Arg700His)
c.-841G>A (n.-841G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177211554G>CCA362322347NSD1c.2282G>C (p.Arg761Pro)
n.612+7262G>C
n.2738G>C
c.2846G>C (p.Arg949Pro)
n.2552G>C
c.3155G>C (p.Arg1052Pro)
n.3302G>C
c.2348G>C (p.Arg783Pro)
c.2735G>C (p.Arg912Pro)
c.2099G>C (p.Arg700Pro)
c.-841G>C (n.-841G>C)
5g.177211554G=CA1603478204NSD1c.2282G= (p.Arg761=)
n.612+7262G=
n.2738G=
c.2846G= (p.Arg949=)
n.2552G=
c.3155G= (p.Arg1052=)
n.3302G=
c.2348G= (p.Arg783=)
c.2735G= (p.Arg912=)
c.2099G= (p.Arg700=)
c.-841G= (n.-841G=)
5g.177211554G>TCA362322349NSD1c.2282G>T (p.Arg761Leu)
n.612+7262G>T
n.2738G>T
c.2846G>T (p.Arg949Leu)
n.2552G>T
c.3155G>T (p.Arg1052Leu)
n.3302G>T
c.2348G>T (p.Arg783Leu)
c.2735G>T (p.Arg912Leu)
c.2099G>T (p.Arg700Leu)
c.-841G>T (n.-841G>T)
5g.177211555C>ACA447960952NSD1c.2283C>A (p.Arg761=)
n.612+7263C>A
n.2739C>A
c.2847C>A (p.Arg949=)
n.2553C>A
c.3156C>A (p.Arg1052=)
n.3303C>A
c.2349C>A (p.Arg783=)
c.2736C>A (p.Arg912=)
c.2100C>A (p.Arg700=)
c.-840C>A (n.-840C>A)
5g.177211555C>GCA447960951NSD1c.2283C>G (p.Arg761=)
n.612+7263C>G
n.2739C>G
c.2847C>G (p.Arg949=)
n.2553C>G
c.3156C>G (p.Arg1052=)
n.3303C>G
c.2349C>G (p.Arg783=)
c.2736C>G (p.Arg912=)
c.2100C>G (p.Arg700=)
c.-840C>G (n.-840C>G)
5g.177211555C>TCA447960950NSD1c.2283C>T (p.Arg761=)
n.612+7263C>T
n.2739C>T
c.2847C>T (p.Arg949=)
n.2553C>T
c.3156C>T (p.Arg1052=)
n.3303C>T
c.2349C>T (p.Arg783=)
c.2736C>T (p.Arg912=)
c.2100C>T (p.Arg700=)
c.-840C>T (n.-840C>T)
5g.177211556A=CA1603478206NSD1c.2284A= (p.Lys762=)
n.612+7264A=
n.2740A=
c.2848A= (p.Lys950=)
n.2554A=
c.3157A= (p.Lys1053=)
n.3304A=
c.2350A= (p.Lys784=)
c.2737A= (p.Lys913=)
c.2101A= (p.Lys701=)
c.-839A= (n.-839A=)
5g.177211556A>CCA3577387NSD1c.2284A>C (p.Lys762Gln)
n.612+7264A>C
n.2740A>C
c.2848A>C (p.Lys950Gln)
n.2554A>C
c.3157A>C (p.Lys1053Gln)
n.3304A>C
c.2350A>C (p.Lys784Gln)
c.2737A>C (p.Lys913Gln)
c.2101A>C (p.Lys701Gln)
c.-839A>C (n.-839A>C)
dbSNP ExAC gnomAD v2
5g.177211556A>GCA362322354NSD1c.2284A>G (p.Lys762Glu)
n.612+7264A>G
n.2740A>G
c.2848A>G (p.Lys950Glu)
n.2554A>G
c.3157A>G (p.Lys1053Glu)
n.3304A>G
c.2350A>G (p.Lys784Glu)
c.2737A>G (p.Lys913Glu)
c.2101A>G (p.Lys701Glu)
c.-839A>G (n.-839A>G)
gnomAD v4
5g.177211556A>TCA362322356NSD1c.2284A>T (p.Lys762Ter)
n.612+7264A>T
n.2740A>T
c.2848A>T (p.Lys950Ter)
n.2554A>T
c.3157A>T (p.Lys1053Ter)
n.3304A>T
c.2350A>T (p.Lys784Ter)
c.2737A>T (p.Lys913Ter)
c.2101A>T (p.Lys701Ter)
c.-839A>T (n.-839A>T)
5g.177211559delCA2695202827NSD1c.2287del (p.Arg763GlufsTer3)
n.612+7267del
n.2743del
c.2851del (p.Arg951GlufsTer3)
n.2557del
c.3160del (p.Arg1054GlufsTer3)
n.3307del
c.2353del (p.Arg785GlufsTer3)
c.2740del (p.Arg914GlufsTer3)
c.2104del (p.Arg702GlufsTer3)
c.-836del (n.-836del)
5g.177211557A>CCA362322357NSD1c.2285A>C (p.Lys762Thr)
n.612+7265A>C
n.2741A>C
c.2849A>C (p.Lys950Thr)
n.2555A>C
c.3158A>C (p.Lys1053Thr)
n.3305A>C
c.2351A>C (p.Lys784Thr)
c.2738A>C (p.Lys913Thr)
c.2102A>C (p.Lys701Thr)
c.-838A>C (n.-838A>C)
5g.177211557A>GCA362322359NSD1c.2285A>G (p.Lys762Arg)
n.612+7265A>G
n.2741A>G
c.2849A>G (p.Lys950Arg)
n.2555A>G
c.3158A>G (p.Lys1053Arg)
n.3305A>G
c.2351A>G (p.Lys784Arg)
c.2738A>G (p.Lys913Arg)
c.2102A>G (p.Lys701Arg)
c.-838A>G (n.-838A>G)
5g.177211557A>TCA362322360NSD1c.2285A>T (p.Lys762Ile)
n.612+7265A>T
n.2741A>T
c.2849A>T (p.Lys950Ile)
n.2555A>T
c.3158A>T (p.Lys1053Ile)
n.3305A>T
c.2351A>T (p.Lys784Ile)
c.2738A>T (p.Lys913Ile)
c.2102A>T (p.Lys701Ile)
c.-838A>T (n.-838A>T)
5g.177211558A>CCA362322363NSD1c.2286A>C (p.Lys762Asn)
n.612+7266A>C
n.2742A>C
c.2850A>C (p.Lys950Asn)
n.2556A>C
c.3159A>C (p.Lys1053Asn)
n.3306A>C
c.2352A>C (p.Lys784Asn)
c.2739A>C (p.Lys913Asn)
c.2103A>C (p.Lys701Asn)
c.-837A>C (n.-837A>C)
5g.177211558A>GCA447960954NSD1c.2286A>G (p.Lys762=)
n.612+7266A>G
n.2742A>G
c.2850A>G (p.Lys950=)
n.2556A>G
c.3159A>G (p.Lys1053=)
n.3306A>G
c.2352A>G (p.Lys784=)
c.2739A>G (p.Lys913=)
c.2103A>G (p.Lys701=)
c.-837A>G (n.-837A>G)
5g.177211558A>TCA362322365NSD1c.2286A>T (p.Lys762Asn)
n.612+7266A>T
n.2742A>T
c.2850A>T (p.Lys950Asn)
n.2556A>T
c.3159A>T (p.Lys1053Asn)
n.3306A>T
c.2352A>T (p.Lys784Asn)
c.2739A>T (p.Lys913Asn)
c.2103A>T (p.Lys701Asn)
c.-837A>T (n.-837A>T)
5g.177211559A>CCA447960955NSD1c.2287A>C (p.Arg763=)
n.612+7267A>C
n.2743A>C
c.2851A>C (p.Arg951=)
n.2557A>C
c.3160A>C (p.Arg1054=)
n.3307A>C
c.2353A>C (p.Arg785=)
c.2740A>C (p.Arg914=)
c.2104A>C (p.Arg702=)
c.-836A>C (n.-836A>C)
5g.177211559A>GCA362322367NSD1c.2287A>G (p.Arg763Gly)
n.612+7267A>G
n.2743A>G
c.2851A>G (p.Arg951Gly)
n.2557A>G
c.3160A>G (p.Arg1054Gly)
n.3307A>G
c.2353A>G (p.Arg785Gly)
c.2740A>G (p.Arg914Gly)
c.2104A>G (p.Arg702Gly)
c.-836A>G (n.-836A>G)
gnomAD v4
5g.177211559A>TCA362322369NSD1c.2287A>T (p.Arg763Ter)
n.612+7267A>T
n.2743A>T
c.2851A>T (p.Arg951Ter)
n.2557A>T
c.3160A>T (p.Arg1054Ter)
n.3307A>T
c.2353A>T (p.Arg785Ter)
c.2740A>T (p.Arg914Ter)
c.2104A>T (p.Arg702Ter)
c.-836A>T (n.-836A>T)
5g.177211560G>ACA362322374NSD1c.2288G>A (p.Arg763Lys)
n.612+7268G>A
n.2744G>A
c.2852G>A (p.Arg951Lys)
n.2558G>A
c.3161G>A (p.Arg1054Lys)
n.3308G>A
c.2354G>A (p.Arg785Lys)
c.2741G>A (p.Arg914Lys)
c.2105G>A (p.Arg702Lys)
c.-835G>A (n.-835G>A)
dbSNP
5g.177211560G>CCA362322378NSD1c.2288G>C (p.Arg763Thr)
n.612+7268G>C
n.2744G>C
c.2852G>C (p.Arg951Thr)
n.2558G>C
c.3161G>C (p.Arg1054Thr)
n.3308G>C
c.2354G>C (p.Arg785Thr)
c.2741G>C (p.Arg914Thr)
c.2105G>C (p.Arg702Thr)
c.-835G>C (n.-835G>C)
dbSNP COSMIC COSMIC
5g.177211560G>TCA362322376NSD1c.2288G>T (p.Arg763Ile)
n.612+7268G>T
n.2744G>T
c.2852G>T (p.Arg951Ile)
n.2558G>T
c.3161G>T (p.Arg1054Ile)
n.3308G>T
c.2354G>T (p.Arg785Ile)
c.2741G>T (p.Arg914Ile)
c.2105G>T (p.Arg702Ile)
c.-835G>T (n.-835G>T)
5g.177211561A=CA1603478218NSD1c.2289A= (p.Arg763=)
n.612+7269A=
n.2745A=
c.2853A= (p.Arg951=)
n.2559A=
c.3162A= (p.Arg1054=)
n.3309A=
c.2355A= (p.Arg785=)
c.2742A= (p.Arg914=)
c.2106A= (p.Arg702=)
c.-834A= (n.-834A=)
5g.177211561A>CCA362322380NSD1c.2289A>C (p.Arg763Ser)
n.612+7269A>C
n.2745A>C
c.2853A>C (p.Arg951Ser)
n.2559A>C
c.3162A>C (p.Arg1054Ser)
n.3309A>C
c.2355A>C (p.Arg785Ser)
c.2742A>C (p.Arg914Ser)
c.2106A>C (p.Arg702Ser)
c.-834A>C (n.-834A>C)
5g.177211561A>GCA447960956NSD1c.2289A>G (p.Arg763=)
n.612+7269A>G
n.2745A>G
c.2853A>G (p.Arg951=)
n.2559A>G
c.3162A>G (p.Arg1054=)
n.3309A>G
c.2355A>G (p.Arg785=)
c.2742A>G (p.Arg914=)
c.2106A>G (p.Arg702=)
c.-834A>G (n.-834A>G)
dbSNP
5g.177211561A>TCA362322384NSD1c.2289A>T (p.Arg763Ser)
n.612+7269A>T
n.2745A>T
c.2853A>T (p.Arg951Ser)
n.2559A>T
c.3162A>T (p.Arg1054Ser)
n.3309A>T
c.2355A>T (p.Arg785Ser)
c.2742A>T (p.Arg914Ser)
c.2106A>T (p.Arg702Ser)
c.-834A>T (n.-834A>T)
5g.177211562A=CA1603478220NSD1c.2290A= (p.Lys764=)
n.612+7270A=
n.2746A=
c.2854A= (p.Lys952=)
n.2560A=
c.3163A= (p.Lys1055=)
n.3310A=
c.2356A= (p.Lys786=)
c.2743A= (p.Lys915=)
c.2107A= (p.Lys703=)
c.-833A= (n.-833A=)
5g.177211562A>CCA362322388NSD1c.2290A>C (p.Lys764Gln)
n.612+7270A>C
n.2746A>C
c.2854A>C (p.Lys952Gln)
n.2560A>C
c.3163A>C (p.Lys1055Gln)
n.3310A>C
c.2356A>C (p.Lys786Gln)
c.2743A>C (p.Lys915Gln)
c.2107A>C (p.Lys703Gln)
c.-833A>C (n.-833A>C)
5g.177211562A>GCA362322390NSD1c.2290A>G (p.Lys764Glu)
n.612+7270A>G
n.2746A>G
c.2854A>G (p.Lys952Glu)
n.2560A>G
c.3163A>G (p.Lys1055Glu)
n.3310A>G
c.2356A>G (p.Lys786Glu)
c.2743A>G (p.Lys915Glu)
c.2107A>G (p.Lys703Glu)
c.-833A>G (n.-833A>G)
dbSNP gnomAD v2 gnomAD v4
5g.177211562A>TCA362322392NSD1c.2290A>T (p.Lys764Ter)
n.612+7270A>T
n.2746A>T
c.2854A>T (p.Lys952Ter)
n.2560A>T
c.3163A>T (p.Lys1055Ter)
n.3310A>T
c.2356A>T (p.Lys786Ter)
c.2743A>T (p.Lys915Ter)
c.2107A>T (p.Lys703Ter)
c.-833A>T (n.-833A>T)
5g.177211563A=CA1603478229NSD1c.2291A= (p.Lys764=)
n.612+7271A=
n.2747A=
c.2855A= (p.Lys952=)
n.2561A=
c.3164A= (p.Lys1055=)
n.3311A=
c.2357A= (p.Lys786=)
c.2744A= (p.Lys915=)
c.2108A= (p.Lys703=)
c.-832A= (n.-832A=)
5g.177211563A>CCA362322397NSD1c.2291A>C (p.Lys764Thr)
n.612+7271A>C
n.2747A>C
c.2855A>C (p.Lys952Thr)
n.2561A>C
c.3164A>C (p.Lys1055Thr)
n.3311A>C
c.2357A>C (p.Lys786Thr)
c.2744A>C (p.Lys915Thr)
c.2108A>C (p.Lys703Thr)
c.-832A>C (n.-832A>C)
5g.177211563A>GCA362322400NSD1c.2291A>G (p.Lys764Arg)
n.612+7271A>G
n.2747A>G
c.2855A>G (p.Lys952Arg)
n.2561A>G
c.3164A>G (p.Lys1055Arg)
n.3311A>G
c.2357A>G (p.Lys786Arg)
c.2744A>G (p.Lys915Arg)
c.2108A>G (p.Lys703Arg)
c.-832A>G (n.-832A>G)
dbSNP gnomAD v2 gnomAD v4
5g.177211563A>TCA362322402NSD1c.2291A>T (p.Lys764Ile)
n.612+7271A>T
n.2747A>T
c.2855A>T (p.Lys952Ile)
n.2561A>T
c.3164A>T (p.Lys1055Ile)
n.3311A>T
c.2357A>T (p.Lys786Ile)
c.2744A>T (p.Lys915Ile)
c.2108A>T (p.Lys703Ile)
c.-832A>T (n.-832A>T)
5g.177211564A>CCA362322407NSD1c.2292A>C (p.Lys764Asn)
n.612+7272A>C
n.2748A>C
c.2856A>C (p.Lys952Asn)
n.2562A>C
c.3165A>C (p.Lys1055Asn)
n.3312A>C
c.2358A>C (p.Lys786Asn)
c.2745A>C (p.Lys915Asn)
c.2109A>C (p.Lys703Asn)
c.-831A>C (n.-831A>C)
5g.177211564A>GCA447960958NSD1c.2292A>G (p.Lys764=)
n.612+7272A>G
n.2748A>G
c.2856A>G (p.Lys952=)
n.2562A>G
c.3165A>G (p.Lys1055=)
n.3312A>G
c.2358A>G (p.Lys786=)
c.2745A>G (p.Lys915=)
c.2109A>G (p.Lys703=)
c.-831A>G (n.-831A>G)
5g.177211564A>TCA362322412NSD1c.2292A>T (p.Lys764Asn)
n.612+7272A>T
n.2748A>T
c.2856A>T (p.Lys952Asn)
n.2562A>T
c.3165A>T (p.Lys1055Asn)
n.3312A>T
c.2358A>T (p.Lys786Asn)
c.2745A>T (p.Lys915Asn)
c.2109A>T (p.Lys703Asn)
c.-831A>T (n.-831A>T)
5g.177211565C>ACA362322417NSD1c.2293C>A (p.Leu765Met)
n.612+7273C>A
n.2749C>A
c.2857C>A (p.Leu953Met)
n.2563C>A
c.3166C>A (p.Leu1056Met)
n.3313C>A
c.2359C>A (p.Leu787Met)
c.2746C>A (p.Leu916Met)
c.2110C>A (p.Leu704Met)
c.-830C>A (n.-830C>A)
dbSNP
5g.177211565C=CA1603478244NSD1c.2293C= (p.Leu765=)
n.612+7273C=
n.2749C=
c.2857C= (p.Leu953=)
n.2563C=
c.3166C= (p.Leu1056=)
n.3313C=
c.2359C= (p.Leu787=)
c.2746C= (p.Leu916=)
c.2110C= (p.Leu704=)
c.-830C= (n.-830C=)
5g.177211565C>GCA3577388NSD1c.2293C>G (p.Leu765Val)
n.612+7273C>G
n.2749C>G
c.2857C>G (p.Leu953Val)
n.2563C>G
c.3166C>G (p.Leu1056Val)
n.3313C>G
c.2359C>G (p.Leu787Val)
c.2746C>G (p.Leu916Val)
c.2110C>G (p.Leu704Val)
c.-830C>G (n.-830C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211565C>TCA447960959NSD1c.2293C>T (p.Leu765=)
n.612+7273C>T
n.2749C>T
c.2857C>T (p.Leu953=)
n.2563C>T
c.3166C>T (p.Leu1056=)
n.3313C>T
c.2359C>T (p.Leu787=)
c.2746C>T (p.Leu916=)
c.2110C>T (p.Leu704=)
c.-830C>T (n.-830C>T)
dbSNP
5g.177211566T>ACA362322423NSD1c.2294T>A (p.Leu765Gln)
n.612+7274T>A
n.2750T>A
c.2858T>A (p.Leu953Gln)
n.2564T>A
c.3167T>A (p.Leu1056Gln)
n.3314T>A
c.2360T>A (p.Leu787Gln)
c.2747T>A (p.Leu916Gln)
c.2111T>A (p.Leu704Gln)
c.-829T>A (n.-829T>A)
5g.177211566T>CCA362322418NSD1c.2294T>C (p.Leu765Pro)
n.612+7274T>C
n.2750T>C
c.2858T>C (p.Leu953Pro)
n.2564T>C
c.3167T>C (p.Leu1056Pro)
n.3314T>C
c.2360T>C (p.Leu787Pro)
c.2747T>C (p.Leu916Pro)
c.2111T>C (p.Leu704Pro)
c.-829T>C (n.-829T>C)
gnomAD v4
5g.177211566T>GCA362322421NSD1c.2294T>G (p.Leu765Arg)
n.612+7274T>G
n.2750T>G
c.2858T>G (p.Leu953Arg)
n.2564T>G
c.3167T>G (p.Leu1056Arg)
n.3314T>G
c.2360T>G (p.Leu787Arg)
c.2747T>G (p.Leu916Arg)
c.2111T>G (p.Leu704Arg)
c.-829T>G (n.-829T>G)
gnomAD v4
5g.177211567G>ACA447960963NSD1c.2295G>A (p.Leu765=)
n.612+7275G>A
n.2751G>A
c.2859G>A (p.Leu953=)
n.2565G>A
c.3168G>A (p.Leu1056=)
n.3315G>A
c.2361G>A (p.Leu787=)
c.2748G>A (p.Leu916=)
c.2112G>A (p.Leu704=)
c.-828G>A (n.-828G>A)
dbSNP
5g.177211567G>CCA447960964NSD1c.2295G>C (p.Leu765=)
n.612+7275G>C
n.2751G>C
c.2859G>C (p.Leu953=)
n.2565G>C
c.3168G>C (p.Leu1056=)
n.3315G>C
c.2361G>C (p.Leu787=)
c.2748G>C (p.Leu916=)
c.2112G>C (p.Leu704=)
c.-828G>C (n.-828G>C)
5g.177211567G>TCA447960965NSD1c.2295G>T (p.Leu765=)
n.612+7275G>T
n.2751G>T
c.2859G>T (p.Leu953=)
n.2565G>T
c.3168G>T (p.Leu1056=)
n.3315G>T
c.2361G>T (p.Leu787=)
c.2748G>T (p.Leu916=)
c.2112G>T (p.Leu704=)
c.-828G>T (n.-828G>T)
5g.177211568A=CA1603478252NSD1c.2296A= (p.Asn766=)
n.612+7276A=
n.2752A=
c.2860A= (p.Asn954=)
n.2566A=
c.3169A= (p.Asn1057=)
n.3316A=
c.2362A= (p.Asn788=)
c.2749A= (p.Asn917=)
c.2113A= (p.Asn705=)
c.-827A= (n.-827A=)
5g.177211568A>CCA362322430NSD1c.2296A>C (p.Asn766His)
n.612+7276A>C
n.2752A>C
c.2860A>C (p.Asn954His)
n.2566A>C
c.3169A>C (p.Asn1057His)
n.3316A>C
c.2362A>C (p.Asn788His)
c.2749A>C (p.Asn917His)
c.2113A>C (p.Asn705His)
c.-827A>C (n.-827A>C)
5g.177211568A>GCA362322435NSD1c.2296A>G (p.Asn766Asp)
n.612+7276A>G
n.2752A>G
c.2860A>G (p.Asn954Asp)
n.2566A>G
c.3169A>G (p.Asn1057Asp)
n.3316A>G
c.2362A>G (p.Asn788Asp)
c.2749A>G (p.Asn917Asp)
c.2113A>G (p.Asn705Asp)
c.-827A>G (n.-827A>G)
5g.177211568A>TCA132831078NSD1c.2296A>T (p.Asn766Tyr)
n.612+7276A>T
n.2752A>T
c.2860A>T (p.Asn954Tyr)
n.2566A>T
c.3169A>T (p.Asn1057Tyr)
n.3316A>T
c.2362A>T (p.Asn788Tyr)
c.2749A>T (p.Asn917Tyr)
c.2113A>T (p.Asn705Tyr)
c.-827A>T (n.-827A>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177211569A>CCA362322450NSD1c.2297A>C (p.Asn766Thr)
n.612+7277A>C
n.2753A>C
c.2861A>C (p.Asn954Thr)
n.2567A>C
c.3170A>C (p.Asn1057Thr)
n.3317A>C
c.2363A>C (p.Asn788Thr)
c.2750A>C (p.Asn917Thr)
c.2114A>C (p.Asn705Thr)
c.-826A>C (n.-826A>C)
5g.177211569A>GCA362322453NSD1c.2297A>G (p.Asn766Ser)
n.612+7277A>G
n.2753A>G
c.2861A>G (p.Asn954Ser)
n.2567A>G
c.3170A>G (p.Asn1057Ser)
n.3317A>G
c.2363A>G (p.Asn788Ser)
c.2750A>G (p.Asn917Ser)
c.2114A>G (p.Asn705Ser)
c.-826A>G (n.-826A>G)
gnomAD v4
5g.177211569A>TCA362322457NSD1c.2297A>T (p.Asn766Ile)
n.612+7277A>T
n.2753A>T
c.2861A>T (p.Asn954Ile)
n.2567A>T
c.3170A>T (p.Asn1057Ile)
n.3317A>T
c.2363A>T (p.Asn788Ile)
c.2750A>T (p.Asn917Ile)
c.2114A>T (p.Asn705Ile)
c.-826A>T (n.-826A>T)
5g.177211570T>ACA362322461NSD1c.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)
5g.177211570T>CCA447960701NSD1c.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
5g.177211570T>GCA362322462NSD1c.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)
5g.177211570T=CA1603478258NSD1c.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=)
5g.177211571C>ACA362322463NSD1c.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)
5g.177211571C=CA1603478265NSD1c.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=)
5g.177211571C>GCA362322466NSD1c.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)
5g.177211571C>TCA362322468NSD1c.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
5g.177211572A=CA1603478272NSD1c.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=)
5g.177211572A>CCA362322477NSD1c.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)
5g.177211572A>GCA362322482NSD1c.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
5g.177211572A>TCA362322473NSD1c.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)
5g.177211573G>ACA447960715NSD1c.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
5g.177211573G>CCA362322484NSD1c.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)
5g.177211573G=CA1603478281NSD1c.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=)
5g.177211573G>TCA362322485NSD1c.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)
5g.177211573_177211575delinsAGCA2695202828NSD1c.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)
5g.177211574C>ACA362322488NSD1c.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)
5g.177211574C=CA1603478286NSD1c.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=)
5g.177211574C>GCA362322493NSD1c.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)
5g.177211574C>TCA3577389NSD1c.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
5g.177211575T>ACA362322517NSD1c.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)
5g.177211575T>CCA362322506NSD1c.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)
5g.177211575T>GCA362322502NSD1c.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)
5g.177211576T>ACA447960727NSD1c.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)
5g.177211576T>CCA447960730NSD1c.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)
5g.177211576T>GCA447960732NSD1c.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)
5g.177211577C>ACA362322521NSD1c.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
5g.177211577C=CA1603478332NSD1c.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=)
5g.177211577C>GCA362322527NSD1c.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
5g.177211577C>TCA3577390NSD1c.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
5g.177211578C>ACA362322533NSD1c.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
5g.177211578C>GCA362322536NSD1c.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)
5g.177211578C>TCA362322540NSD1c.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
5g.177211579A>CCA447960745NSD1c.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)
5g.177211579A>GCA447960748NSD1c.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
5g.177211579A>TCA447960749NSD1c.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)
5g.177211580A=CA1603478342NSD1c.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=)
5g.177211580A>CCA362322547NSD1c.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
5g.177211580A>GCA3577391NSD1c.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
5g.177211580A>TCA3577392NSD1c.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
5g.177211580_177211582delinsAGTCA1603478340NSD1c.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)
5g.177211581G>ACA362322583NSD1c.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
5g.177211581G>CCA362322587NSD1c.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
5g.177211581G=CA1603478349NSD1c.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=)
5g.177211581G>TCA362322590NSD1c.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)
5g.177211584_177211585delCA294845NSD1c.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
5g.177211582T>ACA362322609NSD1c.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)
5g.177211582T>CCA447960766NSD1c.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)
5g.177211582T>GCA3577393NSD1c.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
5g.177211582T=CA1603478355NSD1c.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=)
5g.177211583G>ACA362322615NSD1c.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
5g.177211583G>CCA362322616NSD1c.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)
5g.177211583G>TCA362322617NSD1c.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)
5g.177211584T>ACA362322621NSD1c.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)
5g.177211584T>CCA362322623NSD1c.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)
5g.177211584T>GCA362322626NSD1c.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)
5g.177211585G>ACA447960775NSD1c.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)
5g.177211585G>CCA447960772NSD1c.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)
5g.177211585G>TCA447960773NSD1c.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
5g.177211586A=CA1603478358NSD1c.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=)
5g.177211586A>CCA362322632NSD1c.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)
5g.177211586A>GCA149196NSD1c.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
5g.177211586A>TCA362322646NSD1c.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)
5g.177211587C>ACA362322652NSD1c.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)
5g.177211587C>GCA362322661NSD1c.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
5g.177211587C>TCA362322655NSD1c.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
5g.177211588delCA2695202829NSD1c.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)
5g.177211588T>ACA447960790NSD1c.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)
5g.177211588T>CCA447960789NSD1c.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
5g.177211588T>GCA447960788NSD1c.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)
5g.177211588T=CA1603478367NSD1c.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=)
5g.177211589C>ACA362322666NSD1c.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
5g.177211589C>GCA362322669NSD1c.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)
5g.177211589C>TCA362322670NSD1c.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)
5g.177211590T>ACA3577394NSD1c.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
5g.177211590T>CCA362322671NSD1c.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)
5g.177211590T>GCA362322672NSD1c.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)
5g.177211590T=CA1603478374NSD1c.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=)
5g.177211591T>ACA447960805NSD1c.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)
5g.177211591T>CCA447960806NSD1c.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
5g.177211591T>GCA447960807NSD1c.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)
5g.177211592G>ACA362322677NSD1c.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
5g.177211592G>CCA362322681NSD1c.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
5g.177211592G=CA1603478380NSD1c.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=)
5g.177211592G>TCA362322684NSD1c.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
5g.177211593A>CCA362322690NSD1c.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)
5g.177211593A>GCA362322692NSD1c.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)
5g.177211593A>TCA362322698NSD1c.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)
5g.177211594T>ACA362322708NSD1c.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)
5g.177211594T>CCA447960817NSD1c.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)
5g.177211594T>GCA362322702NSD1c.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)
5g.177211595G>ACA362322712NSD1c.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)
5g.177211595G>CCA362322714NSD1c.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)
5g.177211595G>TCA362322716NSD1c.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)
5g.177211596delCA2695202830NSD1c.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)
5g.177211596C>ACA362322720NSD1c.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
5g.177211596C=CA1603478386NSD1c.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=)
5g.177211596C>GCA362322728NSD1c.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
5g.177211596C>TCA362322732NSD1c.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
5g.177211597T>ACA447960824NSD1c.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)
5g.177211597T>CCA447960825NSD1c.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)
5g.177211597T>GCA447960827NSD1c.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
5g.177211597T=CA1603478391NSD1c.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=)
5g.177211598G>ACA362322734NSD1c.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
5g.177211598G>CCA362322740NSD1c.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
5g.177211598G>TCA362322742NSD1c.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)
5g.177211599T>ACA362322748NSD1c.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
5g.177211599T>CCA362322752NSD1c.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)
5g.177211599T>GCA362322756NSD1c.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)
5g.177211600A=CA1603478399NSD1c.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=)
5g.177211600A>CCA447960833NSD1c.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)
5g.177211600A>GCA3577395NSD1c.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
5g.177211600A>TCA447960836NSD1c.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)
5g.177211601C>ACA362322766NSD1c.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)
5g.177211601C>GCA362322764NSD1c.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)
5g.177211601C>TCA447960840NSD1c.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
5g.177211602T>ACA362322769NSD1c.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)
5g.177211602T>CCA362322773NSD1c.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)
5g.177211602T>GCA362322774NSD1c.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
5g.177211603G>ACA447960846NSD1c.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
5g.177211603G>CCA447960847NSD1c.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)
5g.177211603G=CA1603478403NSD1c.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=)
5g.177211603G>TCA447960848NSD1c.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
5g.177211604C>ACA362322775NSD1c.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)
5g.177211604C>GCA362322777NSD1c.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
5g.177211604C>TCA362322779NSD1c.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
5g.177211605A>CCA362322791NSD1c.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)
5g.177211605A>GCA362322784NSD1c.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
5g.177211605A>TCA362322789NSD1c.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)
5g.177211606G>ACA447960855NSD1c.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
5g.177211606G>CCA362322794NSD1c.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
5g.177211606G=CA1603478405NSD1c.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=)
5g.177211606G>TCA362322797NSD1c.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)
5g.177211607G>ACA362322804NSD1c.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
5g.177211607G>CCA362322806NSD1c.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)
5g.177211607G>TCA362322809NSD1c.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)
5g.177211608G>ACA362322820NSD1c.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
5g.177211608G>CCA362322816NSD1c.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)
5g.177211608G>TCA362322817NSD1c.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)
5g.177211609A>CCA447960862NSD1c.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)
5g.177211609A>GCA447960863NSD1c.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)
5g.177211609A>TCA447960866NSD1c.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)
5g.177211610G>ACA362322825NSD1c.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
5g.177211610G>CCA362322826NSD1c.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)
5g.177211610G>TCA362322828NSD1c.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)
5g.177211611A>CCA362322832NSD1c.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)
5g.177211611A>GCA362322837NSD1c.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)
5g.177211611A>TCA362322840NSD1c.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)
5g.177211612C>ACA362322843NSD1c.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
5g.177211612C=CA1603478407NSD1c.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=)
5g.177211612C>GCA362322845NSD1c.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
5g.177211612C>TCA447960872NSD1c.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
5g.177211613C>ACA447960873NSD1c.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)
5g.177211613C=CA1603478411NSD1c.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=)
5g.177211613C>GCA362322851NSD1c.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
5g.177211613C>TCA294846NSD1c.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
5g.177211614G>ACA3577396NSD1c.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
5g.177211614G>CCA362322860NSD1c.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
5g.177211614G=CA1603478419NSD1c.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=)
5g.177211614G>TCA362322862NSD1c.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)
5g.177211615A>CCA447960879NSD1c.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)
5g.177211615A>GCA447960881NSD1c.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)
5g.177211615A>TCA447960884NSD1c.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)
5g.177211616G>ACA3577397NSD1c.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
5g.177211616G>CCA362322872NSD1c.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)
5g.177211616G=CA1603478424NSD1c.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=)
5g.177211616G>TCA362322868NSD1c.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)
5g.177211617A>CCA362322877NSD1c.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)
5g.177211617A>GCA362322884NSD1c.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)
5g.177211617A>TCA362322880NSD1c.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)
5g.177211618A=CA1603478425NSD1c.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=)
5g.177211618A>CCA362322889NSD1c.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)
5g.177211618A>GCA3577398NSD1c.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
5g.177211618A>TCA362322893NSD1c.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)
5g.177211619C>ACA362322897NSD1c.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
5g.177211619C=CA1603478430NSD1c.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=)
5g.177211619C>GCA362322900NSD1c.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
5g.177211619C>TCA3577399NSD1c.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
5g.177211620G>ACA3577400NSD1c.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
5g.177211620G>CCA362322906NSD1c.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)
5g.177211620G=CA1603478437NSD1c.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=)
5g.177211620G>TCA362322908NSD1c.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)
5g.177211621T>ACA447960891NSD1c.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)
5g.177211621T>CCA447960892NSD1c.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)
5g.177211621T>GCA447960893NSD1c.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)
5g.177211622G>ACA362322909NSD1c.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)
5g.177211622G>CCA362322910NSD1c.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)
5g.177211622G>TCA362322911NSD1c.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)
5g.177211623G>ACA362322919NSD1c.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
5g.177211623G>CCA362322913NSD1c.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)
5g.177211623G=CA1603478449NSD1c.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=)
5g.177211623G>TCA362322915NSD1c.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)
5g.177211624A>CCA447960896NSD1c.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)
5g.177211624A>GCA447960898NSD1c.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)
5g.177211624A>TCA447960899NSD1c.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)
5g.177211625G>ACA3577401NSD1c.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
5g.177211625G>CCA362322923NSD1c.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)
5g.177211625G=CA1603478481NSD1c.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=)
5g.177211625G>TCA362322926NSD1c.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)
5g.177211626G>ACA362322931NSD1c.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
5g.177211626G>CCA362322932NSD1c.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)
5g.177211626G=CA1603478483NSD1c.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=)
5g.177211626G>TCA362322934NSD1c.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)
5g.177211627T>ACA447960903NSD1c.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
5g.177211627T>CCA447960904NSD1c.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
5g.177211627T>GCA447960902NSD1c.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)
5g.177211627T=CA1603478488NSD1c.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=)
5g.177211628T>ACA362322939NSD1c.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)
5g.177211628T>CCA362322942NSD1c.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)
5g.177211628T>GCA362322945NSD1c.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)
5g.177211629C>ACA362322949NSD1c.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)
5g.177211629C=CA1603478495NSD1c.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=)
5g.177211629C>GCA16618171NSD1c.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
5g.177211629C>TCA362322953NSD1c.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
5g.177211630A>CCA447960909NSD1c.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)
5g.177211630A>GCA447960910NSD1c.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)
5g.177211630A>TCA447960911NSD1c.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)
5g.177211630_177211636delinsTCCA2580074132NSD1c.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
5g.177211631T>ACA362322957NSD1c.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)
5g.177211631T>CCA447960915NSD1c.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
5g.177211631T>GCA362322959NSD1c.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)
5g.177211632T>ACA362322963NSD1c.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)
5g.177211632T>CCA3577402NSD1c.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
5g.177211632T>GCA362322967NSD1c.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)
5g.177211632T=CA1603478505NSD1c.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=)
5g.177211633G>ACA447960917NSD1c.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)
5g.177211633G>CCA362322971NSD1c.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)
5g.177211633G>TCA362322974NSD1c.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)
5g.177211634A=CA1603478514NSD1c.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=)
5g.177211634A>CCA447960922NSD1c.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)
5g.177211634A>GCA362322977NSD1c.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
5g.177211634A>TCA362322979NSD1c.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)
5g.177211635G>ACA362322985NSD1c.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)
5g.177211635G>CCA3577403NSD1c.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
5g.177211635G=CA1603478519NSD1c.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=)
5g.177211635G>TCA362322988NSD1c.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)
5g.177211636A>CCA362322992NSD1c.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)
5g.177211636A>GCA447960923NSD1c.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)
5g.177211636A>TCA362322993NSD1c.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)
5g.177211637G>ACA362323001NSD1c.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
5g.177211637G>CCA362322999NSD1c.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)
5g.177211637G=CA1603478523NSD1c.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=)
5g.177211637G>TCA362322997NSD1c.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
5g.177211638G>ACA362323004NSD1c.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
5g.177211638G>CCA362323006NSD1c.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)
5g.177211638G=CA1603478530NSD1c.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=)
5g.177211638G>TCA362323008NSD1c.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
5g.177211639T>ACA447960929NSD1c.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
5g.177211639T>CCA447960930NSD1c.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)
5g.177211639T>GCA447960933NSD1c.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)
5g.177211640G>ACA362323012NSD1c.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
5g.177211640G>CCA362323015NSD1c.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)
5g.177211640G>TCA362323019NSD1c.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)
5g.177211641G>ACA362323023NSD1c.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
5g.177211641G>CCA3577404NSD1c.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
5g.177211641G=CA1603478535NSD1c.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=)
5g.177211641G>TCA362323027NSD1c.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
5g.177211642G>ACA447960935NSD1c.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)
5g.177211642G>CCA447960936NSD1c.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)
5g.177211642G>TCA447960938NSD1c.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)
5g.177211643G>ACA362323032NSD1c.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
5g.177211643G>CCA362323034NSD1c.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)
5g.177211643G=CA1603478541NSD1c.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=)
5g.177211643G>TCA3577405NSD1c.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
5g.177211644C>ACA362323046NSD1c.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)
5g.177211644C>GCA362323040NSD1c.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)
5g.177211644C>TCA362323044NSD1c.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)
5g.177211645A>CCA447960943NSD1c.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)
5g.177211645A>GCA447960944NSD1c.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
5g.177211645A>TCA447960945NSD1c.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)
5g.177211646G>ACA3577406NSD1c.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
5g.177211646G>CCA362323058NSD1c.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)
5g.177211646G=CA1603478559NSD1c.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=)
5g.177211646G>TCA362323055NSD1c.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)

Number of alleles fetched