Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177211719A>CCA362323671NSD1c.2447A>C (p.Asp816Ala)
n.612+7427A>C
n.2903A>C
c.3011A>C (p.Asp1004Ala)
n.2717A>C
c.3320A>C (p.Asp1107Ala)
n.3467A>C
c.2513A>C (p.Asp838Ala)
c.2900A>C (p.Asp967Ala)
c.2264A>C (p.Asp755Ala)
c.-676A>C (n.-676A>C)
5g.177211719A>GCA362323673NSD1c.2447A>G (p.Asp816Gly)
n.612+7427A>G
n.2903A>G
c.3011A>G (p.Asp1004Gly)
n.2717A>G
c.3320A>G (p.Asp1107Gly)
n.3467A>G
c.2513A>G (p.Asp838Gly)
c.2900A>G (p.Asp967Gly)
c.2264A>G (p.Asp755Gly)
c.-676A>G (n.-676A>G)
5g.177211719A>TCA362323675NSD1c.2447A>T (p.Asp816Val)
n.612+7427A>T
n.2903A>T
c.3011A>T (p.Asp1004Val)
n.2717A>T
c.3320A>T (p.Asp1107Val)
n.3467A>T
c.2513A>T (p.Asp838Val)
c.2900A>T (p.Asp967Val)
c.2264A>T (p.Asp755Val)
c.-676A>T (n.-676A>T)
5g.177211720T>ACA362323680NSD1c.2448T>A (p.Asp816Glu)
n.612+7428T>A
n.2904T>A
c.3012T>A (p.Asp1004Glu)
n.2718T>A
c.3321T>A (p.Asp1107Glu)
n.3468T>A
c.2514T>A (p.Asp838Glu)
c.2901T>A (p.Asp967Glu)
c.2265T>A (p.Asp755Glu)
c.-675T>A (n.-675T>A)
5g.177211720T>CCA447961069NSD1c.2448T>C (p.Asp816=)
n.612+7428T>C
n.2904T>C
c.3012T>C (p.Asp1004=)
n.2718T>C
c.3321T>C (p.Asp1107=)
n.3468T>C
c.2514T>C (p.Asp838=)
c.2901T>C (p.Asp967=)
c.2265T>C (p.Asp755=)
c.-675T>C (n.-675T>C)
ClinVar
5g.177211720T>GCA362323682NSD1c.2448T>G (p.Asp816Glu)
n.612+7428T>G
n.2904T>G
c.3012T>G (p.Asp1004Glu)
n.2718T>G
c.3321T>G (p.Asp1107Glu)
n.3468T>G
c.2514T>G (p.Asp838Glu)
c.2901T>G (p.Asp967Glu)
c.2265T>G (p.Asp755Glu)
c.-675T>G (n.-675T>G)
5g.177211720_177211721insACA2550006446NSD1c.2448_2449insA (p.Val817SerfsTer5)
n.612+7428_612+7429insA
n.2904_2905insA
c.3012_3013insA (p.Val1005SerfsTer5)
n.2718_2719insA
c.3321_3322insA (p.Val1108SerfsTer5)
n.3468_3469insA
c.2514_2515insA (p.Val839SerfsTer5)
c.2901_2902insA (p.Val968SerfsTer5)
c.2265_2266insA (p.Val756SerfsTer5)
c.-675_-674insA (n.-675_-674insA)
5g.177211721G>ACA362323688NSD1c.2449G>A (p.Val817Met)
n.612+7429G>A
n.2905G>A
c.3013G>A (p.Val1005Met)
n.2719G>A
c.3322G>A (p.Val1108Met)
n.3469G>A
c.2515G>A (p.Val839Met)
c.2902G>A (p.Val968Met)
c.2266G>A (p.Val756Met)
c.-674G>A (n.-674G>A)
dbSNP gnomAD v2 gnomAD v4
5g.177211721G>CCA362323690NSD1c.2449G>C (p.Val817Leu)
n.612+7429G>C
n.2905G>C
c.3013G>C (p.Val1005Leu)
n.2719G>C
c.3322G>C (p.Val1108Leu)
n.3469G>C
c.2515G>C (p.Val839Leu)
c.2902G>C (p.Val968Leu)
c.2266G>C (p.Val756Leu)
c.-674G>C (n.-674G>C)
5g.177211721G=CA1603478742NSD1c.2449G= (p.Val817=)
n.612+7429G=
n.2905G=
c.3013G= (p.Val1005=)
n.2719G=
c.3322G= (p.Val1108=)
n.3469G=
c.2515G= (p.Val839=)
c.2902G= (p.Val968=)
c.2266G= (p.Val756=)
c.-674G= (n.-674G=)
5g.177211721G>TCA362323685NSD1c.2449G>T (p.Val817Leu)
n.612+7429G>T
n.2905G>T
c.3013G>T (p.Val1005Leu)
n.2719G>T
c.3322G>T (p.Val1108Leu)
n.3469G>T
c.2515G>T (p.Val839Leu)
c.2902G>T (p.Val968Leu)
c.2266G>T (p.Val756Leu)
c.-674G>T (n.-674G>T)
5g.177211722T>ACA362323698NSD1c.2450T>A (p.Val817Glu)
n.612+7430T>A
n.2906T>A
c.3014T>A (p.Val1005Glu)
n.2720T>A
c.3323T>A (p.Val1108Glu)
n.3470T>A
c.2516T>A (p.Val839Glu)
c.2903T>A (p.Val968Glu)
c.2267T>A (p.Val756Glu)
c.-673T>A (n.-673T>A)
5g.177211722T>CCA362323693NSD1c.2450T>C (p.Val817Ala)
n.612+7430T>C
n.2906T>C
c.3014T>C (p.Val1005Ala)
n.2720T>C
c.3323T>C (p.Val1108Ala)
n.3470T>C
c.2516T>C (p.Val839Ala)
c.2903T>C (p.Val968Ala)
c.2267T>C (p.Val756Ala)
c.-673T>C (n.-673T>C)
ClinVar dbSNP
5g.177211722T>GCA3577415NSD1c.2450T>G (p.Val817Gly)
n.612+7430T>G
n.2906T>G
c.3014T>G (p.Val1005Gly)
n.2720T>G
c.3323T>G (p.Val1108Gly)
n.3470T>G
c.2516T>G (p.Val839Gly)
c.2903T>G (p.Val968Gly)
c.2267T>G (p.Val756Gly)
c.-673T>G (n.-673T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211722T=CA1603478746NSD1c.2450T= (p.Val817=)
n.612+7430T=
n.2906T=
c.3014T= (p.Val1005=)
n.2720T=
c.3323T= (p.Val1108=)
n.3470T=
c.2516T= (p.Val839=)
c.2903T= (p.Val968=)
c.2267T= (p.Val756=)
c.-673T= (n.-673T=)
5g.177211723G>ACA447961070NSD1c.2451G>A (p.Val817=)
n.612+7431G>A
n.2907G>A
c.3015G>A (p.Val1005=)
n.2721G>A
c.3324G>A (p.Val1108=)
n.3471G>A
c.2517G>A (p.Val839=)
c.2904G>A (p.Val968=)
c.2268G>A (p.Val756=)
c.-672G>A (n.-672G>A)
dbSNP
5g.177211723G>CCA447961071NSD1c.2451G>C (p.Val817=)
n.612+7431G>C
n.2907G>C
c.3015G>C (p.Val1005=)
n.2721G>C
c.3324G>C (p.Val1108=)
n.3471G>C
c.2517G>C (p.Val839=)
c.2904G>C (p.Val968=)
c.2268G>C (p.Val756=)
c.-672G>C (n.-672G>C)
5g.177211723G>TCA447961072NSD1c.2451G>T (p.Val817=)
n.612+7431G>T
n.2907G>T
c.3015G>T (p.Val1005=)
n.2721G>T
c.3324G>T (p.Val1108=)
n.3471G>T
c.2517G>T (p.Val839=)
c.2904G>T (p.Val968=)
c.2268G>T (p.Val756=)
c.-672G>T (n.-672G>T)
5g.177211723_177211725delCA2501532953NSD1c.2451_2453del (p.His818del)
n.612+7431_612+7433del
n.2907_2909del
c.3015_3017del (p.His1006del)
n.2721_2723del
c.3324_3326del (p.His1109del)
n.3471_3473del
c.2517_2519del (p.His840del)
c.2904_2906del (p.His969del)
c.2268_2270del (p.His757del)
c.-672_-670del (n.-672_-670del)
5g.177211724C>ACA362323702NSD1c.2452C>A (p.His818Asn)
n.612+7432C>A
n.2908C>A
c.3016C>A (p.His1006Asn)
n.2722C>A
c.3325C>A (p.His1109Asn)
n.3472C>A
c.2518C>A (p.His840Asn)
c.2905C>A (p.His969Asn)
c.2269C>A (p.His757Asn)
c.-671C>A (n.-671C>A)
5g.177211724C=CA1603478749NSD1c.2452C= (p.His818=)
n.612+7432C=
n.2908C=
c.3016C= (p.His1006=)
n.2722C=
c.3325C= (p.His1109=)
n.3472C=
c.2518C= (p.His840=)
c.2905C= (p.His969=)
c.2269C= (p.His757=)
c.-671C= (n.-671C=)
5g.177211724C>GCA362323705NSD1c.2452C>G (p.His818Asp)
n.612+7432C>G
n.2908C>G
c.3016C>G (p.His1006Asp)
n.2722C>G
c.3325C>G (p.His1109Asp)
n.3472C>G
c.2518C>G (p.His840Asp)
c.2905C>G (p.His969Asp)
c.2269C>G (p.His757Asp)
c.-671C>G (n.-671C>G)
5g.177211724C>TCA362323709NSD1c.2452C>T (p.His818Tyr)
n.612+7432C>T
n.2908C>T
c.3016C>T (p.His1006Tyr)
n.2722C>T
c.3325C>T (p.His1109Tyr)
n.3472C>T
c.2518C>T (p.His840Tyr)
c.2905C>T (p.His969Tyr)
c.2269C>T (p.His757Tyr)
c.-671C>T (n.-671C>T)
dbSNP
5g.177211725A>CCA362323713NSD1c.2453A>C (p.His818Pro)
n.612+7433A>C
n.2909A>C
c.3017A>C (p.His1006Pro)
n.2723A>C
c.3326A>C (p.His1109Pro)
n.3473A>C
c.2519A>C (p.His840Pro)
c.2906A>C (p.His969Pro)
c.2270A>C (p.His757Pro)
c.-670A>C (n.-670A>C)
5g.177211725A>GCA362323716NSD1c.2453A>G (p.His818Arg)
n.612+7433A>G
n.2909A>G
c.3017A>G (p.His1006Arg)
n.2723A>G
c.3326A>G (p.His1109Arg)
n.3473A>G
c.2519A>G (p.His840Arg)
c.2906A>G (p.His969Arg)
c.2270A>G (p.His757Arg)
c.-670A>G (n.-670A>G)
5g.177211725A>TCA362323719NSD1c.2453A>T (p.His818Leu)
n.612+7433A>T
n.2909A>T
c.3017A>T (p.His1006Leu)
n.2723A>T
c.3326A>T (p.His1109Leu)
n.3473A>T
c.2519A>T (p.His840Leu)
c.2906A>T (p.His969Leu)
c.2270A>T (p.His757Leu)
c.-670A>T (n.-670A>T)
dbSNP
5g.177211726T>ACA362323723NSD1c.2454T>A (p.His818Gln)
n.612+7434T>A
n.2910T>A
c.3018T>A (p.His1006Gln)
n.2724T>A
c.3327T>A (p.His1109Gln)
n.3474T>A
c.2520T>A (p.His840Gln)
c.2907T>A (p.His969Gln)
c.2271T>A (p.His757Gln)
c.-669T>A (n.-669T>A)
5g.177211726T>CCA447961073NSD1c.2454T>C (p.His818=)
n.612+7434T>C
n.2910T>C
c.3018T>C (p.His1006=)
n.2724T>C
c.3327T>C (p.His1109=)
n.3474T>C
c.2520T>C (p.His840=)
c.2907T>C (p.His969=)
c.2271T>C (p.His757=)
c.-669T>C (n.-669T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211726T>GCA362323726NSD1c.2454T>G (p.His818Gln)
n.612+7434T>G
n.2910T>G
c.3018T>G (p.His1006Gln)
n.2724T>G
c.3327T>G (p.His1109Gln)
n.3474T>G
c.2520T>G (p.His840Gln)
c.2907T>G (p.His969Gln)
c.2271T>G (p.His757Gln)
c.-669T>G (n.-669T>G)
5g.177211726T=CA1603478755NSD1c.2454T= (p.His818=)
n.612+7434T=
n.2910T=
c.3018T= (p.His1006=)
n.2724T=
c.3327T= (p.His1109=)
n.3474T=
c.2520T= (p.His840=)
c.2907T= (p.His969=)
c.2271T= (p.His757=)
c.-669T= (n.-669T=)
5g.177211727T>ACA362323732NSD1c.2455T>A (p.Phe819Ile)
n.612+7435T>A
n.2911T>A
c.3019T>A (p.Phe1007Ile)
n.2725T>A
c.3328T>A (p.Phe1110Ile)
n.3475T>A
c.2521T>A (p.Phe841Ile)
c.2908T>A (p.Phe970Ile)
c.2272T>A (p.Phe758Ile)
c.-668T>A (n.-668T>A)
5g.177211727T>CCA362323735NSD1c.2455T>C (p.Phe819Leu)
n.612+7435T>C
n.2911T>C
c.3019T>C (p.Phe1007Leu)
n.2725T>C
c.3328T>C (p.Phe1110Leu)
n.3475T>C
c.2521T>C (p.Phe841Leu)
c.2908T>C (p.Phe970Leu)
c.2272T>C (p.Phe758Leu)
c.-668T>C (n.-668T>C)
5g.177211727T>GCA362323738NSD1c.2455T>G (p.Phe819Val)
n.612+7435T>G
n.2911T>G
c.3019T>G (p.Phe1007Val)
n.2725T>G
c.3328T>G (p.Phe1110Val)
n.3475T>G
c.2521T>G (p.Phe841Val)
c.2908T>G (p.Phe970Val)
c.2272T>G (p.Phe758Val)
c.-668T>G (n.-668T>G)
5g.177211728T>ACA362323742NSD1c.2456T>A (p.Phe819Tyr)
n.612+7436T>A
n.2912T>A
c.3020T>A (p.Phe1007Tyr)
n.2726T>A
c.3329T>A (p.Phe1110Tyr)
n.3476T>A
c.2522T>A (p.Phe841Tyr)
c.2909T>A (p.Phe970Tyr)
c.2273T>A (p.Phe758Tyr)
c.-667T>A (n.-667T>A)
5g.177211728T>CCA362323750NSD1c.2456T>C (p.Phe819Ser)
n.612+7436T>C
n.2912T>C
c.3020T>C (p.Phe1007Ser)
n.2726T>C
c.3329T>C (p.Phe1110Ser)
n.3476T>C
c.2522T>C (p.Phe841Ser)
c.2909T>C (p.Phe970Ser)
c.2273T>C (p.Phe758Ser)
c.-667T>C (n.-667T>C)
5g.177211728T>GCA362323747NSD1c.2456T>G (p.Phe819Cys)
n.612+7436T>G
n.2912T>G
c.3020T>G (p.Phe1007Cys)
n.2726T>G
c.3329T>G (p.Phe1110Cys)
n.3476T>G
c.2522T>G (p.Phe841Cys)
c.2909T>G (p.Phe970Cys)
c.2273T>G (p.Phe758Cys)
c.-667T>G (n.-667T>G)
5g.177211729delCA2509276686NSD1c.2457del (p.Phe819LeufsTer?)
n.612+7437del
n.2913del
c.3021del (p.Phe1007LeufsTer?)
n.2727del
c.3330del (p.Phe1110LeufsTer?)
n.3477del
c.2523del (p.Phe841LeufsTer?)
c.2910del (p.Phe970LeufsTer?)
c.2274del (p.Phe758LeufsTer?)
c.-666del (n.-666del)
5g.177211729C>ACA362323755NSD1c.2457C>A (p.Phe819Leu)
n.612+7437C>A
n.2913C>A
c.3021C>A (p.Phe1007Leu)
n.2727C>A
c.3330C>A (p.Phe1110Leu)
n.3477C>A
c.2523C>A (p.Phe841Leu)
c.2910C>A (p.Phe970Leu)
c.2274C>A (p.Phe758Leu)
c.-666C>A (n.-666C>A)
COSMIC COSMIC
5g.177211729C=CA1603478765NSD1c.2457C= (p.Phe819=)
n.612+7437C=
n.2913C=
c.3021C= (p.Phe1007=)
n.2727C=
c.3330C= (p.Phe1110=)
n.3477C=
c.2523C= (p.Phe841=)
c.2910C= (p.Phe970=)
c.2274C= (p.Phe758=)
c.-666C= (n.-666C=)
5g.177211729C>GCA362323758NSD1c.2457C>G (p.Phe819Leu)
n.612+7437C>G
n.2913C>G
c.3021C>G (p.Phe1007Leu)
n.2727C>G
c.3330C>G (p.Phe1110Leu)
n.3477C>G
c.2523C>G (p.Phe841Leu)
c.2910C>G (p.Phe970Leu)
c.2274C>G (p.Phe758Leu)
c.-666C>G (n.-666C>G)
dbSNP
5g.177211729C>TCA3577416NSD1c.2457C>T (p.Phe819=)
n.612+7437C>T
n.2913C>T
c.3021C>T (p.Phe1007=)
n.2727C>T
c.3330C>T (p.Phe1110=)
n.3477C>T
c.2523C>T (p.Phe841=)
c.2910C>T (p.Phe970=)
c.2274C>T (p.Phe758=)
c.-666C>T (n.-666C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177211730G>ACA3577417NSD1c.2458G>A (p.Asp820Asn)
n.612+7438G>A
n.2914G>A
c.3022G>A (p.Asp1008Asn)
n.2728G>A
c.3331G>A (p.Asp1111Asn)
n.3478G>A
c.2524G>A (p.Asp842Asn)
c.2911G>A (p.Asp971Asn)
c.2275G>A (p.Asp759Asn)
c.-665G>A (n.-665G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211730G>CCA362323767NSD1c.2458G>C (p.Asp820His)
n.612+7438G>C
n.2914G>C
c.3022G>C (p.Asp1008His)
n.2728G>C
c.3331G>C (p.Asp1111His)
n.3478G>C
c.2524G>C (p.Asp842His)
c.2911G>C (p.Asp971His)
c.2275G>C (p.Asp759His)
c.-665G>C (n.-665G>C)
5g.177211730G=CA1603478782NSD1c.2458G= (p.Asp820=)
n.612+7438G=
n.2914G=
c.3022G= (p.Asp1008=)
n.2728G=
c.3331G= (p.Asp1111=)
n.3478G=
c.2524G= (p.Asp842=)
c.2911G= (p.Asp971=)
c.2275G= (p.Asp759=)
c.-665G= (n.-665G=)
5g.177211730G>TCA362323769NSD1c.2458G>T (p.Asp820Tyr)
n.612+7438G>T
n.2914G>T
c.3022G>T (p.Asp1008Tyr)
n.2728G>T
c.3331G>T (p.Asp1111Tyr)
n.3478G>T
c.2524G>T (p.Asp842Tyr)
c.2911G>T (p.Asp971Tyr)
c.2275G>T (p.Asp759Tyr)
c.-665G>T (n.-665G>T)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177211731A=CA1603478784NSD1c.2459A= (p.Asp820=)
n.612+7439A=
n.2915A=
c.3023A= (p.Asp1008=)
n.2729A=
c.3332A= (p.Asp1111=)
n.3479A=
c.2525A= (p.Asp842=)
c.2912A= (p.Asp971=)
c.2276A= (p.Asp759=)
c.-664A= (n.-664A=)
5g.177211731A>CCA362323774NSD1c.2459A>C (p.Asp820Ala)
n.612+7439A>C
n.2915A>C
c.3023A>C (p.Asp1008Ala)
n.2729A>C
c.3332A>C (p.Asp1111Ala)
n.3479A>C
c.2525A>C (p.Asp842Ala)
c.2912A>C (p.Asp971Ala)
c.2276A>C (p.Asp759Ala)
c.-664A>C (n.-664A>C)
5g.177211731A>GCA362323776NSD1c.2459A>G (p.Asp820Gly)
n.612+7439A>G
n.2915A>G
c.3023A>G (p.Asp1008Gly)
n.2729A>G
c.3332A>G (p.Asp1111Gly)
n.3479A>G
c.2525A>G (p.Asp842Gly)
c.2912A>G (p.Asp971Gly)
c.2276A>G (p.Asp759Gly)
c.-664A>G (n.-664A>G)
dbSNP gnomAD v2 gnomAD v4
5g.177211731A>TCA362323778NSD1c.2459A>T (p.Asp820Val)
n.612+7439A>T
n.2915A>T
c.3023A>T (p.Asp1008Val)
n.2729A>T
c.3332A>T (p.Asp1111Val)
n.3479A>T
c.2525A>T (p.Asp842Val)
c.2912A>T (p.Asp971Val)
c.2276A>T (p.Asp759Val)
c.-664A>T (n.-664A>T)
5g.177211732T>ACA362323783NSD1c.2460T>A (p.Asp820Glu)
n.612+7440T>A
n.2916T>A
c.3024T>A (p.Asp1008Glu)
n.2730T>A
c.3333T>A (p.Asp1111Glu)
n.3480T>A
c.2526T>A (p.Asp842Glu)
c.2913T>A (p.Asp971Glu)
c.2277T>A (p.Asp759Glu)
c.-663T>A (n.-663T>A)
5g.177211732T>CCA447961074NSD1c.2460T>C (p.Asp820=)
n.612+7440T>C
n.2916T>C
c.3024T>C (p.Asp1008=)
n.2730T>C
c.3333T>C (p.Asp1111=)
n.3480T>C
c.2526T>C (p.Asp842=)
c.2913T>C (p.Asp971=)
c.2277T>C (p.Asp759=)
c.-663T>C (n.-663T>C)
dbSNP gnomAD v3 gnomAD v4
5g.177211732T>GCA362323785NSD1c.2460T>G (p.Asp820Glu)
n.612+7440T>G
n.2916T>G
c.3024T>G (p.Asp1008Glu)
n.2730T>G
c.3333T>G (p.Asp1111Glu)
n.3480T>G
c.2526T>G (p.Asp842Glu)
c.2913T>G (p.Asp971Glu)
c.2277T>G (p.Asp759Glu)
c.-663T>G (n.-663T>G)
dbSNP
5g.177211732T=CA1603478788NSD1c.2460T= (p.Asp820=)
n.612+7440T=
n.2916T=
c.3024T= (p.Asp1008=)
n.2730T=
c.3333T= (p.Asp1111=)
n.3480T=
c.2526T= (p.Asp842=)
c.2913T= (p.Asp971=)
c.2277T= (p.Asp759=)
c.-663T= (n.-663T=)
5g.177211733A=CA1603478789NSD1c.2461A= (p.Ser821=)
n.612+7441A=
n.2917A=
c.3025A= (p.Ser1009=)
n.2731A=
c.3334A= (p.Ser1112=)
n.3481A=
c.2527A= (p.Ser843=)
c.2914A= (p.Ser972=)
c.2278A= (p.Ser760=)
c.-662A= (n.-662A=)
5g.177211733A>CCA362323794NSD1c.2461A>C (p.Ser821Arg)
n.612+7441A>C
n.2917A>C
c.3025A>C (p.Ser1009Arg)
n.2731A>C
c.3334A>C (p.Ser1112Arg)
n.3481A>C
c.2527A>C (p.Ser843Arg)
c.2914A>C (p.Ser972Arg)
c.2278A>C (p.Ser760Arg)
c.-662A>C (n.-662A>C)
5g.177211733A>GCA3577418NSD1c.2461A>G (p.Ser821Gly)
n.612+7441A>G
n.2917A>G
c.3025A>G (p.Ser1009Gly)
n.2731A>G
c.3334A>G (p.Ser1112Gly)
n.3481A>G
c.2527A>G (p.Ser843Gly)
c.2914A>G (p.Ser972Gly)
c.2278A>G (p.Ser760Gly)
c.-662A>G (n.-662A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211733A>TCA362323792NSD1c.2461A>T (p.Ser821Cys)
n.612+7441A>T
n.2917A>T
c.3025A>T (p.Ser1009Cys)
n.2731A>T
c.3334A>T (p.Ser1112Cys)
n.3481A>T
c.2527A>T (p.Ser843Cys)
c.2914A>T (p.Ser972Cys)
c.2278A>T (p.Ser760Cys)
c.-662A>T (n.-662A>T)
5g.177211734G>ACA132831345NSD1c.2462G>A (p.Ser821Asn)
n.612+7442G>A
n.2918G>A
c.3026G>A (p.Ser1009Asn)
n.2732G>A
c.3335G>A (p.Ser1112Asn)
n.3482G>A
c.2528G>A (p.Ser843Asn)
c.2915G>A (p.Ser972Asn)
c.2279G>A (p.Ser760Asn)
c.-661G>A (n.-661G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177211734G>CCA362323802NSD1c.2462G>C (p.Ser821Thr)
n.612+7442G>C
n.2918G>C
c.3026G>C (p.Ser1009Thr)
n.2732G>C
c.3335G>C (p.Ser1112Thr)
n.3482G>C
c.2528G>C (p.Ser843Thr)
c.2915G>C (p.Ser972Thr)
c.2279G>C (p.Ser760Thr)
c.-661G>C (n.-661G>C)
5g.177211734G=CA1603478792NSD1c.2462G= (p.Ser821=)
n.612+7442G=
n.2918G=
c.3026G= (p.Ser1009=)
n.2732G=
c.3335G= (p.Ser1112=)
n.3482G=
c.2528G= (p.Ser843=)
c.2915G= (p.Ser972=)
c.2279G= (p.Ser760=)
c.-661G= (n.-661G=)
5g.177211734G>TCA362323805NSD1c.2462G>T (p.Ser821Ile)
n.612+7442G>T
n.2918G>T
c.3026G>T (p.Ser1009Ile)
n.2732G>T
c.3335G>T (p.Ser1112Ile)
n.3482G>T
c.2528G>T (p.Ser843Ile)
c.2915G>T (p.Ser972Ile)
c.2279G>T (p.Ser760Ile)
c.-661G>T (n.-661G>T)
5g.177211735C>ACA362323807NSD1c.2463C>A (p.Ser821Arg)
n.612+7443C>A
n.2919C>A
c.3027C>A (p.Ser1009Arg)
n.2733C>A
c.3336C>A (p.Ser1112Arg)
n.3483C>A
c.2529C>A (p.Ser843Arg)
c.2916C>A (p.Ser972Arg)
c.2280C>A (p.Ser760Arg)
c.-660C>A (n.-660C>A)
dbSNP
5g.177211735C=CA1603478796NSD1c.2463C= (p.Ser821=)
n.612+7443C=
n.2919C=
c.3027C= (p.Ser1009=)
n.2733C=
c.3336C= (p.Ser1112=)
n.3483C=
c.2529C= (p.Ser843=)
c.2916C= (p.Ser972=)
c.2280C= (p.Ser760=)
c.-660C= (n.-660C=)
5g.177211735C>GCA132831347NSD1c.2463C>G (p.Ser821Arg)
n.612+7443C>G
n.2919C>G
c.3027C>G (p.Ser1009Arg)
n.2733C>G
c.3336C>G (p.Ser1112Arg)
n.3483C>G
c.2529C>G (p.Ser843Arg)
c.2916C>G (p.Ser972Arg)
c.2280C>G (p.Ser760Arg)
c.-660C>G (n.-660C>G)
dbSNP
5g.177211735C>TCA447961075NSD1c.2463C>T (p.Ser821=)
n.612+7443C>T
n.2919C>T
c.3027C>T (p.Ser1009=)
n.2733C>T
c.3336C>T (p.Ser1112=)
n.3483C>T
c.2529C>T (p.Ser843=)
c.2916C>T (p.Ser972=)
c.2280C>T (p.Ser760=)
c.-660C>T (n.-660C>T)
5g.177211736A>CCA362323817NSD1c.2464A>C (p.Lys822Gln)
n.612+7444A>C
n.2920A>C
c.3028A>C (p.Lys1010Gln)
n.2734A>C
c.3337A>C (p.Lys1113Gln)
n.3484A>C
c.2530A>C (p.Lys844Gln)
c.2917A>C (p.Lys973Gln)
c.2281A>C (p.Lys761Gln)
c.-659A>C (n.-659A>C)
5g.177211736A>GCA362323819NSD1c.2464A>G (p.Lys822Glu)
n.612+7444A>G
n.2920A>G
c.3028A>G (p.Lys1010Glu)
n.2734A>G
c.3337A>G (p.Lys1113Glu)
n.3484A>G
c.2530A>G (p.Lys844Glu)
c.2917A>G (p.Lys973Glu)
c.2281A>G (p.Lys761Glu)
c.-659A>G (n.-659A>G)
5g.177211736A>TCA362323825NSD1c.2464A>T (p.Lys822Ter)
n.612+7444A>T
n.2920A>T
c.3028A>T (p.Lys1010Ter)
n.2734A>T
c.3337A>T (p.Lys1113Ter)
n.3484A>T
c.2530A>T (p.Lys844Ter)
c.2917A>T (p.Lys973Ter)
c.2281A>T (p.Lys761Ter)
c.-659A>T (n.-659A>T)
5g.177211737A>CCA362323827NSD1c.2465A>C (p.Lys822Thr)
n.612+7445A>C
n.2921A>C
c.3029A>C (p.Lys1010Thr)
n.2735A>C
c.3338A>C (p.Lys1113Thr)
n.3485A>C
c.2531A>C (p.Lys844Thr)
c.2918A>C (p.Lys973Thr)
c.2282A>C (p.Lys761Thr)
c.-658A>C (n.-658A>C)
5g.177211737A>GCA362323829NSD1c.2465A>G (p.Lys822Arg)
n.612+7445A>G
n.2921A>G
c.3029A>G (p.Lys1010Arg)
n.2735A>G
c.3338A>G (p.Lys1113Arg)
n.3485A>G
c.2531A>G (p.Lys844Arg)
c.2918A>G (p.Lys973Arg)
c.2282A>G (p.Lys761Arg)
c.-658A>G (n.-658A>G)
5g.177211737A>TCA362323831NSD1c.2465A>T (p.Lys822Met)
n.612+7445A>T
n.2921A>T
c.3029A>T (p.Lys1010Met)
n.2735A>T
c.3338A>T (p.Lys1113Met)
n.3485A>T
c.2531A>T (p.Lys844Met)
c.2918A>T (p.Lys973Met)
c.2282A>T (p.Lys761Met)
c.-658A>T (n.-658A>T)
5g.177211738G>ACA447961076NSD1c.2466G>A (p.Lys822=)
n.612+7446G>A
n.2922G>A
c.3030G>A (p.Lys1010=)
n.2736G>A
c.3339G>A (p.Lys1113=)
n.3486G>A
c.2532G>A (p.Lys844=)
c.2919G>A (p.Lys973=)
c.2283G>A (p.Lys761=)
c.-657G>A (n.-657G>A)
5g.177211738G>CCA362323836NSD1c.2466G>C (p.Lys822Asn)
n.612+7446G>C
n.2922G>C
c.3030G>C (p.Lys1010Asn)
n.2736G>C
c.3339G>C (p.Lys1113Asn)
n.3486G>C
c.2532G>C (p.Lys844Asn)
c.2919G>C (p.Lys973Asn)
c.2283G>C (p.Lys761Asn)
c.-657G>C (n.-657G>C)
5g.177211738G>TCA362323840NSD1c.2466G>T (p.Lys822Asn)
n.612+7446G>T
n.2922G>T
c.3030G>T (p.Lys1010Asn)
n.2736G>T
c.3339G>T (p.Lys1113Asn)
n.3486G>T
c.2532G>T (p.Lys844Asn)
c.2919G>T (p.Lys973Asn)
c.2283G>T (p.Lys761Asn)
c.-657G>T (n.-657G>T)
5g.177211739G>ACA362323848NSD1c.2467G>A (p.Val823Ile)
n.612+7447G>A
n.2923G>A
c.3031G>A (p.Val1011Ile)
n.2737G>A
c.3340G>A (p.Val1114Ile)
n.3487G>A
c.2533G>A (p.Val845Ile)
c.2920G>A (p.Val974Ile)
c.2284G>A (p.Val762Ile)
c.-656G>A (n.-656G>A)
5g.177211739G>CCA362323850NSD1c.2467G>C (p.Val823Leu)
n.612+7447G>C
n.2923G>C
c.3031G>C (p.Val1011Leu)
n.2737G>C
c.3340G>C (p.Val1114Leu)
n.3487G>C
c.2533G>C (p.Val845Leu)
c.2920G>C (p.Val974Leu)
c.2284G>C (p.Val762Leu)
c.-656G>C (n.-656G>C)
5g.177211739G>TCA362323845NSD1c.2467G>T (p.Val823Phe)
n.612+7447G>T
n.2923G>T
c.3031G>T (p.Val1011Phe)
n.2737G>T
c.3340G>T (p.Val1114Phe)
n.3487G>T
c.2533G>T (p.Val845Phe)
c.2920G>T (p.Val974Phe)
c.2284G>T (p.Val762Phe)
c.-656G>T (n.-656G>T)
ClinVar
5g.177211740T>ACA362323854NSD1c.2468T>A (p.Val823Asp)
n.612+7448T>A
n.2924T>A
c.3032T>A (p.Val1011Asp)
n.2738T>A
c.3341T>A (p.Val1114Asp)
n.3488T>A
c.2534T>A (p.Val845Asp)
c.2921T>A (p.Val974Asp)
c.2285T>A (p.Val762Asp)
c.-655T>A (n.-655T>A)
5g.177211740T>CCA362323856NSD1c.2468T>C (p.Val823Ala)
n.612+7448T>C
n.2924T>C
c.3032T>C (p.Val1011Ala)
n.2738T>C
c.3341T>C (p.Val1114Ala)
n.3488T>C
c.2534T>C (p.Val845Ala)
c.2921T>C (p.Val974Ala)
c.2285T>C (p.Val762Ala)
c.-655T>C (n.-655T>C)
5g.177211740T>GCA362323859NSD1c.2468T>G (p.Val823Gly)
n.612+7448T>G
n.2924T>G
c.3032T>G (p.Val1011Gly)
n.2738T>G
c.3341T>G (p.Val1114Gly)
n.3488T>G
c.2534T>G (p.Val845Gly)
c.2921T>G (p.Val974Gly)
c.2285T>G (p.Val762Gly)
c.-655T>G (n.-655T>G)
5g.177211741T>ACA447961077NSD1c.2469T>A (p.Val823=)
n.612+7449T>A
n.2925T>A
c.3033T>A (p.Val1011=)
n.2739T>A
c.3342T>A (p.Val1114=)
n.3489T>A
c.2535T>A (p.Val845=)
c.2922T>A (p.Val974=)
c.2286T>A (p.Val762=)
c.-654T>A (n.-654T>A)
5g.177211741T>CCA447961078NSD1c.2469T>C (p.Val823=)
n.612+7449T>C
n.2925T>C
c.3033T>C (p.Val1011=)
n.2739T>C
c.3342T>C (p.Val1114=)
n.3489T>C
c.2535T>C (p.Val845=)
c.2922T>C (p.Val974=)
c.2286T>C (p.Val762=)
c.-654T>C (n.-654T>C)
5g.177211741T>GCA447961079NSD1c.2469T>G (p.Val823=)
n.612+7449T>G
n.2925T>G
c.3033T>G (p.Val1011=)
n.2739T>G
c.3342T>G (p.Val1114=)
n.3489T>G
c.2535T>G (p.Val845=)
c.2922T>G (p.Val974=)
c.2286T>G (p.Val762=)
c.-654T>G (n.-654T>G)
5g.177211742A=CA1603478800NSD1c.2470A= (p.Lys824=)
n.612+7450A=
n.2926A=
c.3034A= (p.Lys1012=)
n.2740A=
c.3343A= (p.Lys1115=)
n.3490A=
c.2536A= (p.Lys846=)
c.2923A= (p.Lys975=)
c.2287A= (p.Lys763=)
c.-653A= (n.-653A=)
5g.177211742A>CCA362323863NSD1c.2470A>C (p.Lys824Gln)
n.612+7450A>C
n.2926A>C
c.3034A>C (p.Lys1012Gln)
n.2740A>C
c.3343A>C (p.Lys1115Gln)
n.3490A>C
c.2536A>C (p.Lys846Gln)
c.2923A>C (p.Lys975Gln)
c.2287A>C (p.Lys763Gln)
c.-653A>C (n.-653A>C)
5g.177211742A>GCA362323865NSD1c.2470A>G (p.Lys824Glu)
n.612+7450A>G
n.2926A>G
c.3034A>G (p.Lys1012Glu)
n.2740A>G
c.3343A>G (p.Lys1115Glu)
n.3490A>G
c.2536A>G (p.Lys846Glu)
c.2923A>G (p.Lys975Glu)
c.2287A>G (p.Lys763Glu)
c.-653A>G (n.-653A>G)
dbSNP gnomAD v2
5g.177211742A>TCA362323868NSD1c.2470A>T (p.Lys824Ter)
n.612+7450A>T
n.2926A>T
c.3034A>T (p.Lys1012Ter)
n.2740A>T
c.3343A>T (p.Lys1115Ter)
n.3490A>T
c.2536A>T (p.Lys846Ter)
c.2923A>T (p.Lys975Ter)
c.2287A>T (p.Lys763Ter)
c.-653A>T (n.-653A>T)
5g.177211743A=CA1603478808NSD1c.2471A= (p.Lys824=)
n.612+7451A=
n.2927A=
c.3035A= (p.Lys1012=)
n.2741A=
c.3344A= (p.Lys1115=)
n.3491A=
c.2537A= (p.Lys846=)
c.2924A= (p.Lys975=)
c.2288A= (p.Lys763=)
c.-652A= (n.-652A=)
5g.177211743A>CCA362323876NSD1c.2471A>C (p.Lys824Thr)
n.612+7451A>C
n.2927A>C
c.3035A>C (p.Lys1012Thr)
n.2741A>C
c.3344A>C (p.Lys1115Thr)
n.3491A>C
c.2537A>C (p.Lys846Thr)
c.2924A>C (p.Lys975Thr)
c.2288A>C (p.Lys763Thr)
c.-652A>C (n.-652A>C)
5g.177211743A>GCA362323871NSD1c.2471A>G (p.Lys824Arg)
n.612+7451A>G
n.2927A>G
c.3035A>G (p.Lys1012Arg)
n.2741A>G
c.3344A>G (p.Lys1115Arg)
n.3491A>G
c.2537A>G (p.Lys846Arg)
c.2924A>G (p.Lys975Arg)
c.2288A>G (p.Lys763Arg)
c.-652A>G (n.-652A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177211743A>TCA362323874NSD1c.2471A>T (p.Lys824Met)
n.612+7451A>T
n.2927A>T
c.3035A>T (p.Lys1012Met)
n.2741A>T
c.3344A>T (p.Lys1115Met)
n.3491A>T
c.2537A>T (p.Lys846Met)
c.2924A>T (p.Lys975Met)
c.2288A>T (p.Lys763Met)
c.-652A>T (n.-652A>T)
dbSNP
5g.177211744G>ACA447961080NSD1c.2472G>A (p.Lys824=)
n.612+7452G>A
n.2928G>A
c.3036G>A (p.Lys1012=)
n.2742G>A
c.3345G>A (p.Lys1115=)
n.3492G>A
c.2538G>A (p.Lys846=)
c.2925G>A (p.Lys975=)
c.2289G>A (p.Lys763=)
c.-651G>A (n.-651G>A)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177211744G>CCA362323880NSD1c.2472G>C (p.Lys824Asn)
n.612+7452G>C
n.2928G>C
c.3036G>C (p.Lys1012Asn)
n.2742G>C
c.3345G>C (p.Lys1115Asn)
n.3492G>C
c.2538G>C (p.Lys846Asn)
c.2925G>C (p.Lys975Asn)
c.2289G>C (p.Lys763Asn)
c.-651G>C (n.-651G>C)
5g.177211744G=CA1603478814NSD1c.2472G= (p.Lys824=)
n.612+7452G=
n.2928G=
c.3036G= (p.Lys1012=)
n.2742G=
c.3345G= (p.Lys1115=)
n.3492G=
c.2538G= (p.Lys846=)
c.2925G= (p.Lys975=)
c.2289G= (p.Lys763=)
c.-651G= (n.-651G=)
5g.177211744G>TCA362323883NSD1c.2472G>T (p.Lys824Asn)
n.612+7452G>T
n.2928G>T
c.3036G>T (p.Lys1012Asn)
n.2742G>T
c.3345G>T (p.Lys1115Asn)
n.3492G>T
c.2538G>T (p.Lys846Asn)
c.2925G>T (p.Lys975Asn)
c.2289G>T (p.Lys763Asn)
c.-651G>T (n.-651G>T)
5g.177211745C>ACA362323889NSD1c.2473C>A (p.Gln825Lys)
n.612+7453C>A
n.2929C>A
c.3037C>A (p.Gln1013Lys)
n.2743C>A
c.3346C>A (p.Gln1116Lys)
n.3493C>A
c.2539C>A (p.Gln847Lys)
c.2926C>A (p.Gln976Lys)
c.2290C>A (p.Gln764Lys)
c.-650C>A (n.-650C>A)
gnomAD v4
5g.177211745C>GCA362323892NSD1c.2473C>G (p.Gln825Glu)
n.612+7453C>G
n.2929C>G
c.3037C>G (p.Gln1013Glu)
n.2743C>G
c.3346C>G (p.Gln1116Glu)
n.3493C>G
c.2539C>G (p.Gln847Glu)
c.2926C>G (p.Gln976Glu)
c.2290C>G (p.Gln764Glu)
c.-650C>G (n.-650C>G)
dbSNP
5g.177211745C>TCA362323893NSD1c.2473C>T (p.Gln825Ter)
n.612+7453C>T
n.2929C>T
c.3037C>T (p.Gln1013Ter)
n.2743C>T
c.3346C>T (p.Gln1116Ter)
n.3493C>T
c.2539C>T (p.Gln847Ter)
c.2926C>T (p.Gln976Ter)
c.2290C>T (p.Gln764Ter)
c.-650C>T (n.-650C>T)
5g.177211746A=CA1603478817NSD1c.2474A= (p.Gln825=)
n.612+7454A=
n.2930A=
c.3038A= (p.Gln1013=)
n.2744A=
c.3347A= (p.Gln1116=)
n.3494A=
c.2540A= (p.Gln847=)
c.2927A= (p.Gln976=)
c.2291A= (p.Gln764=)
c.-649A= (n.-649A=)
5g.177211746A>CCA362323896NSD1c.2474A>C (p.Gln825Pro)
n.612+7454A>C
n.2930A>C
c.3038A>C (p.Gln1013Pro)
n.2744A>C
c.3347A>C (p.Gln1116Pro)
n.3494A>C
c.2540A>C (p.Gln847Pro)
c.2927A>C (p.Gln976Pro)
c.2291A>C (p.Gln764Pro)
c.-649A>C (n.-649A>C)
5g.177211746A>GCA3577419NSD1c.2474A>G (p.Gln825Arg)
n.612+7454A>G
n.2930A>G
c.3038A>G (p.Gln1013Arg)
n.2744A>G
c.3347A>G (p.Gln1116Arg)
n.3494A>G
c.2540A>G (p.Gln847Arg)
c.2927A>G (p.Gln976Arg)
c.2291A>G (p.Gln764Arg)
c.-649A>G (n.-649A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211746A>TCA362323899NSD1c.2474A>T (p.Gln825Leu)
n.612+7454A>T
n.2930A>T
c.3038A>T (p.Gln1013Leu)
n.2744A>T
c.3347A>T (p.Gln1116Leu)
n.3494A>T
c.2540A>T (p.Gln847Leu)
c.2927A>T (p.Gln976Leu)
c.2291A>T (p.Gln764Leu)
c.-649A>T (n.-649A>T)
5g.177211747dupCA2739289455NSD1c.2475dup (p.Ser826IlefsTer2)
n.612+7455dup
n.2931dup
c.3039dup (p.Ser1014IlefsTer2)
n.2745dup
c.3348dup (p.Ser1117IlefsTer2)
n.3495dup
c.2541dup (p.Ser848IlefsTer2)
c.2928dup (p.Ser977IlefsTer2)
c.2292dup (p.Ser765IlefsTer2)
c.-648dup (n.-648dup)
5g.177211747A=CA1603478820NSD1c.2475A= (p.Gln825=)
n.612+7455A=
n.2931A=
c.3039A= (p.Gln1013=)
n.2745A=
c.3348A= (p.Gln1116=)
n.3495A=
c.2541A= (p.Gln847=)
c.2928A= (p.Gln976=)
c.2292A= (p.Gln764=)
c.-648A= (n.-648A=)
5g.177211747A>CCA362323906NSD1c.2475A>C (p.Gln825His)
n.612+7455A>C
n.2931A>C
c.3039A>C (p.Gln1013His)
n.2745A>C
c.3348A>C (p.Gln1116His)
n.3495A>C
c.2541A>C (p.Gln847His)
c.2928A>C (p.Gln976His)
c.2292A>C (p.Gln764His)
c.-648A>C (n.-648A>C)
gnomAD v4
5g.177211747A>GCA447961081NSD1c.2475A>G (p.Gln825=)
n.612+7455A>G
n.2931A>G
c.3039A>G (p.Gln1013=)
n.2745A>G
c.3348A>G (p.Gln1116=)
n.3495A>G
c.2541A>G (p.Gln847=)
c.2928A>G (p.Gln976=)
c.2292A>G (p.Gln764=)
c.-648A>G (n.-648A>G)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
5g.177211747A>TCA362323909NSD1c.2475A>T (p.Gln825His)
n.612+7455A>T
n.2931A>T
c.3039A>T (p.Gln1013His)
n.2745A>T
c.3348A>T (p.Gln1116His)
n.3495A>T
c.2541A>T (p.Gln847His)
c.2928A>T (p.Gln976His)
c.2292A>T (p.Gln764His)
c.-648A>T (n.-648A>T)
gnomAD v4
5g.177211748T>ACA362323915NSD1c.2476T>A (p.Ser826Thr)
n.612+7456T>A
n.2932T>A
c.3040T>A (p.Ser1014Thr)
n.2746T>A
c.3349T>A (p.Ser1117Thr)
n.3496T>A
c.2542T>A (p.Ser848Thr)
c.2929T>A (p.Ser977Thr)
c.2293T>A (p.Ser765Thr)
c.-647T>A (n.-647T>A)
5g.177211748T>CCA362323922NSD1c.2476T>C (p.Ser826Pro)
n.612+7456T>C
n.2932T>C
c.3040T>C (p.Ser1014Pro)
n.2746T>C
c.3349T>C (p.Ser1117Pro)
n.3496T>C
c.2542T>C (p.Ser848Pro)
c.2929T>C (p.Ser977Pro)
c.2293T>C (p.Ser765Pro)
c.-647T>C (n.-647T>C)
5g.177211748T>GCA3577420NSD1c.2476T>G (p.Ser826Ala)
n.612+7456T>G
n.2932T>G
c.3040T>G (p.Ser1014Ala)
n.2746T>G
c.3349T>G (p.Ser1117Ala)
n.3496T>G
c.2542T>G (p.Ser848Ala)
c.2929T>G (p.Ser977Ala)
c.2293T>G (p.Ser765Ala)
c.-647T>G (n.-647T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211748T=CA1603478823NSD1c.2476T= (p.Ser826=)
n.612+7456T=
n.2932T=
c.3040T= (p.Ser1014=)
n.2746T=
c.3349T= (p.Ser1117=)
n.3496T=
c.2542T= (p.Ser848=)
c.2929T= (p.Ser977=)
c.2293T= (p.Ser765=)
c.-647T= (n.-647T=)
5g.177211749C>ACA362323927NSD1c.2477C>A (p.Ser826Tyr)
n.612+7457C>A
n.2933C>A
c.3041C>A (p.Ser1014Tyr)
n.2747C>A
c.3350C>A (p.Ser1117Tyr)
n.3497C>A
c.2543C>A (p.Ser848Tyr)
c.2930C>A (p.Ser977Tyr)
c.2294C>A (p.Ser765Tyr)
c.-646C>A (n.-646C>A)
dbSNP
5g.177211749C=CA1603478827NSD1c.2477C= (p.Ser826=)
n.612+7457C=
n.2933C=
c.3041C= (p.Ser1014=)
n.2747C=
c.3350C= (p.Ser1117=)
n.3497C=
c.2543C= (p.Ser848=)
c.2930C= (p.Ser977=)
c.2294C= (p.Ser765=)
c.-646C= (n.-646C=)
5g.177211749C>GCA362323933NSD1c.2477C>G (p.Ser826Cys)
n.612+7457C>G
n.2933C>G
c.3041C>G (p.Ser1014Cys)
n.2747C>G
c.3350C>G (p.Ser1117Cys)
n.3497C>G
c.2543C>G (p.Ser848Cys)
c.2930C>G (p.Ser977Cys)
c.2294C>G (p.Ser765Cys)
c.-646C>G (n.-646C>G)
dbSNP gnomAD v2
5g.177211749C>TCA362323929NSD1c.2477C>T (p.Ser826Phe)
n.612+7457C>T
n.2933C>T
c.3041C>T (p.Ser1014Phe)
n.2747C>T
c.3350C>T (p.Ser1117Phe)
n.3497C>T
c.2543C>T (p.Ser848Phe)
c.2930C>T (p.Ser977Phe)
c.2294C>T (p.Ser765Phe)
c.-646C>T (n.-646C>T)
5g.177211750T>ACA447961082NSD1c.2478T>A (p.Ser826=)
n.612+7458T>A
n.2934T>A
c.3042T>A (p.Ser1014=)
n.2748T>A
c.3351T>A (p.Ser1117=)
n.3498T>A
c.2544T>A (p.Ser848=)
c.2931T>A (p.Ser977=)
c.2295T>A (p.Ser765=)
c.-645T>A (n.-645T>A)
5g.177211750T>CCA447961083NSD1c.2478T>C (p.Ser826=)
n.612+7458T>C
n.2934T>C
c.3042T>C (p.Ser1014=)
n.2748T>C
c.3351T>C (p.Ser1117=)
n.3498T>C
c.2544T>C (p.Ser848=)
c.2931T>C (p.Ser977=)
c.2295T>C (p.Ser765=)
c.-645T>C (n.-645T>C)
5g.177211750T>GCA447961084NSD1c.2478T>G (p.Ser826=)
n.612+7458T>G
n.2934T>G
c.3042T>G (p.Ser1014=)
n.2748T>G
c.3351T>G (p.Ser1117=)
n.3498T>G
c.2544T>G (p.Ser848=)
c.2931T>G (p.Ser977=)
c.2295T>G (p.Ser765=)
c.-645T>G (n.-645T>G)
5g.177211751G>ACA362323939NSD1c.2479G>A (p.Asp827Asn)
n.612+7459G>A
n.2935G>A
c.3043G>A (p.Asp1015Asn)
n.2749G>A
c.3352G>A (p.Asp1118Asn)
n.3499G>A
c.2545G>A (p.Asp849Asn)
c.2932G>A (p.Asp978Asn)
c.2296G>A (p.Asp766Asn)
c.-644G>A (n.-644G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177211751G>CCA362323945NSD1c.2479G>C (p.Asp827His)
n.612+7459G>C
n.2935G>C
c.3043G>C (p.Asp1015His)
n.2749G>C
c.3352G>C (p.Asp1118His)
n.3499G>C
c.2545G>C (p.Asp849His)
c.2932G>C (p.Asp978His)
c.2296G>C (p.Asp766His)
c.-644G>C (n.-644G>C)
5g.177211751G=CA1603478831NSD1c.2479G= (p.Asp827=)
n.612+7459G=
n.2935G=
c.3043G= (p.Asp1015=)
n.2749G=
c.3352G= (p.Asp1118=)
n.3499G=
c.2545G= (p.Asp849=)
c.2932G= (p.Asp978=)
c.2296G= (p.Asp766=)
c.-644G= (n.-644G=)
5g.177211751G>TCA362323941NSD1c.2479G>T (p.Asp827Tyr)
n.612+7459G>T
n.2935G>T
c.3043G>T (p.Asp1015Tyr)
n.2749G>T
c.3352G>T (p.Asp1118Tyr)
n.3499G>T
c.2545G>T (p.Asp849Tyr)
c.2932G>T (p.Asp978Tyr)
c.2296G>T (p.Asp766Tyr)
c.-644G>T (n.-644G>T)
gnomAD v4
5g.177211752A>CCA362323949NSD1c.2480A>C (p.Asp827Ala)
n.612+7460A>C
n.2936A>C
c.3044A>C (p.Asp1015Ala)
n.2750A>C
c.3353A>C (p.Asp1118Ala)
n.3500A>C
c.2546A>C (p.Asp849Ala)
c.2933A>C (p.Asp978Ala)
c.2297A>C (p.Asp766Ala)
c.-643A>C (n.-643A>C)
5g.177211752A>GCA362323952NSD1c.2480A>G (p.Asp827Gly)
n.612+7460A>G
n.2936A>G
c.3044A>G (p.Asp1015Gly)
n.2750A>G
c.3353A>G (p.Asp1118Gly)
n.3500A>G
c.2546A>G (p.Asp849Gly)
c.2933A>G (p.Asp978Gly)
c.2297A>G (p.Asp766Gly)
c.-643A>G (n.-643A>G)
5g.177211752A>TCA362323956NSD1c.2480A>T (p.Asp827Val)
n.612+7460A>T
n.2936A>T
c.3044A>T (p.Asp1015Val)
n.2750A>T
c.3353A>T (p.Asp1118Val)
n.3500A>T
c.2546A>T (p.Asp849Val)
c.2933A>T (p.Asp978Val)
c.2297A>T (p.Asp766Val)
c.-643A>T (n.-643A>T)
5g.177211753T>ACA362323959NSD1c.2481T>A (p.Asp827Glu)
n.612+7461T>A
n.2937T>A
c.3045T>A (p.Asp1015Glu)
n.2751T>A
c.3354T>A (p.Asp1118Glu)
n.3501T>A
c.2547T>A (p.Asp849Glu)
c.2934T>A (p.Asp978Glu)
c.2298T>A (p.Asp766Glu)
c.-642T>A (n.-642T>A)
5g.177211753T>CCA447961085NSD1c.2481T>C (p.Asp827=)
n.612+7461T>C
n.2937T>C
c.3045T>C (p.Asp1015=)
n.2751T>C
c.3354T>C (p.Asp1118=)
n.3501T>C
c.2547T>C (p.Asp849=)
c.2934T>C (p.Asp978=)
c.2298T>C (p.Asp766=)
c.-642T>C (n.-642T>C)
5g.177211753T>GCA362323962NSD1c.2481T>G (p.Asp827Glu)
n.612+7461T>G
n.2937T>G
c.3045T>G (p.Asp1015Glu)
n.2751T>G
c.3354T>G (p.Asp1118Glu)
n.3501T>G
c.2547T>G (p.Asp849Glu)
c.2934T>G (p.Asp978Glu)
c.2298T>G (p.Asp766Glu)
c.-642T>G (n.-642T>G)
5g.177211754C>ACA3577421NSD1c.2482C>A (p.Pro828Thr)
n.612+7462C>A
n.2938C>A
c.3046C>A (p.Pro1016Thr)
n.2752C>A
c.3355C>A (p.Pro1119Thr)
n.3502C>A
c.2548C>A (p.Pro850Thr)
c.2935C>A (p.Pro979Thr)
c.2299C>A (p.Pro767Thr)
c.-641C>A (n.-641C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211754C=CA1603478835NSD1c.2482C= (p.Pro828=)
n.612+7462C=
n.2938C=
c.3046C= (p.Pro1016=)
n.2752C=
c.3355C= (p.Pro1119=)
n.3502C=
c.2548C= (p.Pro850=)
c.2935C= (p.Pro979=)
c.2299C= (p.Pro767=)
c.-641C= (n.-641C=)
5g.177211754C>GCA234437NSD1c.2482C>G (p.Pro828Ala)
n.612+7462C>G
n.2938C>G
c.3046C>G (p.Pro1016Ala)
n.2752C>G
c.3355C>G (p.Pro1119Ala)
n.3502C>G
c.2548C>G (p.Pro850Ala)
c.2935C>G (p.Pro979Ala)
c.2299C>G (p.Pro767Ala)
c.-641C>G (n.-641C>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211754C>TCA362323973NSD1c.2482C>T (p.Pro828Ser)
n.612+7462C>T
n.2938C>T
c.3046C>T (p.Pro1016Ser)
n.2752C>T
c.3355C>T (p.Pro1119Ser)
n.3502C>T
c.2548C>T (p.Pro850Ser)
c.2935C>T (p.Pro979Ser)
c.2299C>T (p.Pro767Ser)
c.-641C>T (n.-641C>T)
5g.177211755delCA2695202836NSD1c.2483del (p.Pro828LeufsTer22)
n.612+7463del
n.2939del
c.3047del (p.Pro1016LeufsTer22)
n.2753del
c.3356del (p.Pro1119LeufsTer22)
n.3503del
c.2549del (p.Pro850LeufsTer22)
c.2936del (p.Pro979LeufsTer22)
c.2300del (p.Pro767LeufsTer22)
c.-640del (n.-640del)
5g.177211755C>ACA362323977NSD1c.2483C>A (p.Pro828His)
n.612+7463C>A
n.2939C>A
c.3047C>A (p.Pro1016His)
n.2753C>A
c.3356C>A (p.Pro1119His)
n.3503C>A
c.2549C>A (p.Pro850His)
c.2936C>A (p.Pro979His)
c.2300C>A (p.Pro767His)
c.-640C>A (n.-640C>A)
5g.177211755C>GCA362323978NSD1c.2483C>G (p.Pro828Arg)
n.612+7463C>G
n.2939C>G
c.3047C>G (p.Pro1016Arg)
n.2753C>G
c.3356C>G (p.Pro1119Arg)
n.3503C>G
c.2549C>G (p.Pro850Arg)
c.2936C>G (p.Pro979Arg)
c.2300C>G (p.Pro767Arg)
c.-640C>G (n.-640C>G)
5g.177211755C>TCA362323981NSD1c.2483C>T (p.Pro828Leu)
n.612+7463C>T
n.2939C>T
c.3047C>T (p.Pro1016Leu)
n.2753C>T
c.3356C>T (p.Pro1119Leu)
n.3503C>T
c.2549C>T (p.Pro850Leu)
c.2936C>T (p.Pro979Leu)
c.2300C>T (p.Pro767Leu)
c.-640C>T (n.-640C>T)
dbSNP
5g.177211756T>ACA447961086NSD1c.2484T>A (p.Pro828=)
n.612+7464T>A
n.2940T>A
c.3048T>A (p.Pro1016=)
n.2754T>A
c.3357T>A (p.Pro1119=)
n.3504T>A
c.2550T>A (p.Pro850=)
c.2937T>A (p.Pro979=)
c.2301T>A (p.Pro767=)
c.-639T>A (n.-639T>A)
5g.177211756T>CCA447961087NSD1c.2484T>C (p.Pro828=)
n.612+7464T>C
n.2940T>C
c.3048T>C (p.Pro1016=)
n.2754T>C
c.3357T>C (p.Pro1119=)
n.3504T>C
c.2550T>C (p.Pro850=)
c.2937T>C (p.Pro979=)
c.2301T>C (p.Pro767=)
c.-639T>C (n.-639T>C)
5g.177211756T>GCA447961088NSD1c.2484T>G (p.Pro828=)
n.612+7464T>G
n.2940T>G
c.3048T>G (p.Pro1016=)
n.2754T>G
c.3357T>G (p.Pro1119=)
n.3504T>G
c.2550T>G (p.Pro850=)
c.2937T>G (p.Pro979=)
c.2301T>G (p.Pro767=)
c.-639T>G (n.-639T>G)
5g.177211757G>ACA362323985NSD1c.2485G>A (p.Gly829Ser)
n.612+7465G>A
n.2941G>A
c.3049G>A (p.Gly1017Ser)
n.2755G>A
c.3358G>A (p.Gly1120Ser)
n.3505G>A
c.2551G>A (p.Gly851Ser)
c.2938G>A (p.Gly980Ser)
c.2302G>A (p.Gly768Ser)
c.-638G>A (n.-638G>A)
5g.177211757G>CCA362323988NSD1c.2485G>C (p.Gly829Arg)
n.612+7465G>C
n.2941G>C
c.3049G>C (p.Gly1017Arg)
n.2755G>C
c.3358G>C (p.Gly1120Arg)
n.3505G>C
c.2551G>C (p.Gly851Arg)
c.2938G>C (p.Gly980Arg)
c.2302G>C (p.Gly768Arg)
c.-638G>C (n.-638G>C)
ClinVar dbSNP
5g.177211757G=CA1603478841NSD1c.2485G= (p.Gly829=)
n.612+7465G=
n.2941G=
c.3049G= (p.Gly1017=)
n.2755G=
c.3358G= (p.Gly1120=)
n.3505G=
c.2551G= (p.Gly851=)
c.2938G= (p.Gly980=)
c.2302G= (p.Gly768=)
c.-638G= (n.-638G=)
5g.177211757G>TCA362323986NSD1c.2485G>T (p.Gly829Cys)
n.612+7465G>T
n.2941G>T
c.3049G>T (p.Gly1017Cys)
n.2755G>T
c.3358G>T (p.Gly1120Cys)
n.3505G>T
c.2551G>T (p.Gly851Cys)
c.2938G>T (p.Gly980Cys)
c.2302G>T (p.Gly768Cys)
c.-638G>T (n.-638G>T)
5g.177211758G>ACA362323991NSD1c.2486G>A (p.Gly829Asp)
n.612+7466G>A
n.2942G>A
c.3050G>A (p.Gly1017Asp)
n.2756G>A
c.3359G>A (p.Gly1120Asp)
n.3506G>A
c.2552G>A (p.Gly851Asp)
c.2939G>A (p.Gly980Asp)
c.2303G>A (p.Gly768Asp)
c.-637G>A (n.-637G>A)
5g.177211758G>CCA362323994NSD1c.2486G>C (p.Gly829Ala)
n.612+7466G>C
n.2942G>C
c.3050G>C (p.Gly1017Ala)
n.2756G>C
c.3359G>C (p.Gly1120Ala)
n.3506G>C
c.2552G>C (p.Gly851Ala)
c.2939G>C (p.Gly980Ala)
c.2303G>C (p.Gly768Ala)
c.-637G>C (n.-637G>C)
dbSNP
5g.177211758G>TCA362323997NSD1c.2486G>T (p.Gly829Val)
n.612+7466G>T
n.2942G>T
c.3050G>T (p.Gly1017Val)
n.2756G>T
c.3359G>T (p.Gly1120Val)
n.3506G>T
c.2552G>T (p.Gly851Val)
c.2939G>T (p.Gly980Val)
c.2303G>T (p.Gly768Val)
c.-637G>T (n.-637G>T)
COSMIC COSMIC
5g.177211759T>ACA447961089NSD1c.2487T>A (p.Gly829=)
n.612+7467T>A
n.2943T>A
c.3051T>A (p.Gly1017=)
n.2757T>A
c.3360T>A (p.Gly1120=)
n.3507T>A
c.2553T>A (p.Gly851=)
c.2940T>A (p.Gly980=)
c.2304T>A (p.Gly768=)
c.-636T>A (n.-636T>A)
dbSNP
5g.177211759T>CCA447961090NSD1c.2487T>C (p.Gly829=)
n.612+7467T>C
n.2943T>C
c.3051T>C (p.Gly1017=)
n.2757T>C
c.3360T>C (p.Gly1120=)
n.3507T>C
c.2553T>C (p.Gly851=)
c.2940T>C (p.Gly980=)
c.2304T>C (p.Gly768=)
c.-636T>C (n.-636T>C)
5g.177211759T>GCA447961091NSD1c.2487T>G (p.Gly829=)
n.612+7467T>G
n.2943T>G
c.3051T>G (p.Gly1017=)
n.2757T>G
c.3360T>G (p.Gly1120=)
n.3507T>G
c.2553T>G (p.Gly851=)
c.2940T>G (p.Gly980=)
c.2304T>G (p.Gly768=)
c.-636T>G (n.-636T>G)
5g.177211760A>CCA362324000NSD1c.2488A>C (p.Lys830Gln)
n.612+7468A>C
n.2944A>C
c.3052A>C (p.Lys1018Gln)
n.2758A>C
c.3361A>C (p.Lys1121Gln)
n.3508A>C
c.2554A>C (p.Lys852Gln)
c.2941A>C (p.Lys981Gln)
c.2305A>C (p.Lys769Gln)
c.-635A>C (n.-635A>C)
5g.177211760A>GCA362324004NSD1c.2488A>G (p.Lys830Glu)
n.612+7468A>G
n.2944A>G
c.3052A>G (p.Lys1018Glu)
n.2758A>G
c.3361A>G (p.Lys1121Glu)
n.3508A>G
c.2554A>G (p.Lys852Glu)
c.2941A>G (p.Lys981Glu)
c.2305A>G (p.Lys769Glu)
c.-635A>G (n.-635A>G)
COSMIC COSMIC
5g.177211760A>TCA362324007NSD1c.2488A>T (p.Lys830Ter)
n.612+7468A>T
n.2944A>T
c.3052A>T (p.Lys1018Ter)
n.2758A>T
c.3361A>T (p.Lys1121Ter)
n.3508A>T
c.2554A>T (p.Lys852Ter)
c.2941A>T (p.Lys981Ter)
c.2305A>T (p.Lys769Ter)
c.-635A>T (n.-635A>T)
5g.177211763dupCA2499217773NSD1c.2491dup (p.Ile831AsnfsTer3)
n.612+7471dup
n.2947dup
c.3055dup (p.Ile1019AsnfsTer3)
n.2761dup
c.3364dup (p.Ile1122AsnfsTer3)
n.3511dup
c.2557dup (p.Ile853AsnfsTer3)
c.2944dup (p.Ile982AsnfsTer3)
c.2308dup (p.Ile770AsnfsTer3)
c.-632dup (n.-632dup)
ClinVar dbSNP
5g.177211761A>CCA362324013NSD1c.2489A>C (p.Lys830Thr)
n.612+7469A>C
n.2945A>C
c.3053A>C (p.Lys1018Thr)
n.2759A>C
c.3362A>C (p.Lys1121Thr)
n.3509A>C
c.2555A>C (p.Lys852Thr)
c.2942A>C (p.Lys981Thr)
c.2306A>C (p.Lys769Thr)
c.-634A>C (n.-634A>C)
5g.177211761A>GCA362324015NSD1c.2489A>G (p.Lys830Arg)
n.612+7469A>G
n.2945A>G
c.3053A>G (p.Lys1018Arg)
n.2759A>G
c.3362A>G (p.Lys1121Arg)
n.3509A>G
c.2555A>G (p.Lys852Arg)
c.2942A>G (p.Lys981Arg)
c.2306A>G (p.Lys769Arg)
c.-634A>G (n.-634A>G)
gnomAD v4
5g.177211761A>TCA362324018NSD1c.2489A>T (p.Lys830Ile)
n.612+7469A>T
n.2945A>T
c.3053A>T (p.Lys1018Ile)
n.2759A>T
c.3362A>T (p.Lys1121Ile)
n.3509A>T
c.2555A>T (p.Lys852Ile)
c.2942A>T (p.Lys981Ile)
c.2306A>T (p.Lys769Ile)
c.-634A>T (n.-634A>T)
5g.177211762A=CA1603478843NSD1c.2490A= (p.Lys830=)
n.612+7470A=
n.2946A=
c.3054A= (p.Lys1018=)
n.2760A=
c.3363A= (p.Lys1121=)
n.3510A=
c.2556A= (p.Lys852=)
c.2943A= (p.Lys981=)
c.2307A= (p.Lys769=)
c.-633A= (n.-633A=)
5g.177211762A>CCA362324026NSD1c.2490A>C (p.Lys830Asn)
n.612+7470A>C
n.2946A>C
c.3054A>C (p.Lys1018Asn)
n.2760A>C
c.3363A>C (p.Lys1121Asn)
n.3510A>C
c.2556A>C (p.Lys852Asn)
c.2943A>C (p.Lys981Asn)
c.2307A>C (p.Lys769Asn)
c.-633A>C (n.-633A>C)
COSMIC COSMIC
5g.177211762A>GCA3577422NSD1c.2490A>G (p.Lys830=)
n.612+7470A>G
n.2946A>G
c.3054A>G (p.Lys1018=)
n.2760A>G
c.3363A>G (p.Lys1121=)
n.3510A>G
c.2556A>G (p.Lys852=)
c.2943A>G (p.Lys981=)
c.2307A>G (p.Lys769=)
c.-633A>G (n.-633A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211762A>TCA362324023NSD1c.2490A>T (p.Lys830Asn)
n.612+7470A>T
n.2946A>T
c.3054A>T (p.Lys1018Asn)
n.2760A>T
c.3363A>T (p.Lys1121Asn)
n.3510A>T
c.2556A>T (p.Lys852Asn)
c.2943A>T (p.Lys981Asn)
c.2307A>T (p.Lys769Asn)
c.-633A>T (n.-633A>T)
5g.177211763A=CA1603478849NSD1c.2491A= (p.Ile831=)
n.612+7471A=
n.2947A=
c.3055A= (p.Ile1019=)
n.2761A=
c.3364A= (p.Ile1122=)
n.3511A=
c.2557A= (p.Ile853=)
c.2944A= (p.Ile982=)
c.2308A= (p.Ile770=)
c.-632A= (n.-632A=)
5g.177211763A>CCA362324034NSD1c.2491A>C (p.Ile831Leu)
n.612+7471A>C
n.2947A>C
c.3055A>C (p.Ile1019Leu)
n.2761A>C
c.3364A>C (p.Ile1122Leu)
n.3511A>C
c.2557A>C (p.Ile853Leu)
c.2944A>C (p.Ile982Leu)
c.2308A>C (p.Ile770Leu)
c.-632A>C (n.-632A>C)
5g.177211763A>GCA362324040NSD1c.2491A>G (p.Ile831Val)
n.612+7471A>G
n.2947A>G
c.3055A>G (p.Ile1019Val)
n.2761A>G
c.3364A>G (p.Ile1122Val)
n.3511A>G
c.2557A>G (p.Ile853Val)
c.2944A>G (p.Ile982Val)
c.2308A>G (p.Ile770Val)
c.-632A>G (n.-632A>G)
dbSNP gnomAD v2 gnomAD v4
5g.177211763A>TCA362324044NSD1c.2491A>T (p.Ile831Phe)
n.612+7471A>T
n.2947A>T
c.3055A>T (p.Ile1019Phe)
n.2761A>T
c.3364A>T (p.Ile1122Phe)
n.3511A>T
c.2557A>T (p.Ile853Phe)
c.2944A>T (p.Ile982Phe)
c.2308A>T (p.Ile770Phe)
c.-632A>T (n.-632A>T)
5g.177211764T>ACA362324050NSD1c.2492T>A (p.Ile831Asn)
n.612+7472T>A
n.2948T>A
c.3056T>A (p.Ile1019Asn)
n.2762T>A
c.3365T>A (p.Ile1122Asn)
n.3512T>A
c.2558T>A (p.Ile853Asn)
c.2945T>A (p.Ile982Asn)
c.2309T>A (p.Ile770Asn)
c.-631T>A (n.-631T>A)
5g.177211764T>CCA362324052NSD1c.2492T>C (p.Ile831Thr)
n.612+7472T>C
n.2948T>C
c.3056T>C (p.Ile1019Thr)
n.2762T>C
c.3365T>C (p.Ile1122Thr)
n.3512T>C
c.2558T>C (p.Ile853Thr)
c.2945T>C (p.Ile982Thr)
c.2309T>C (p.Ile770Thr)
c.-631T>C (n.-631T>C)
5g.177211764T>GCA362324056NSD1c.2492T>G (p.Ile831Ser)
n.612+7472T>G
n.2948T>G
c.3056T>G (p.Ile1019Ser)
n.2762T>G
c.3365T>G (p.Ile1122Ser)
n.3512T>G
c.2558T>G (p.Ile853Ser)
c.2945T>G (p.Ile982Ser)
c.2309T>G (p.Ile770Ser)
c.-631T>G (n.-631T>G)
5g.177211765T>ACA447961093NSD1c.2493T>A (p.Ile831=)
n.612+7473T>A
n.2949T>A
c.3057T>A (p.Ile1019=)
n.2763T>A
c.3366T>A (p.Ile1122=)
n.3513T>A
c.2559T>A (p.Ile853=)
c.2946T>A (p.Ile982=)
c.2310T>A (p.Ile770=)
c.-630T>A (n.-630T>A)
gnomAD v4
5g.177211765T>CCA447961092NSD1c.2493T>C (p.Ile831=)
n.612+7473T>C
n.2949T>C
c.3057T>C (p.Ile1019=)
n.2763T>C
c.3366T>C (p.Ile1122=)
n.3513T>C
c.2559T>C (p.Ile853=)
c.2946T>C (p.Ile982=)
c.2310T>C (p.Ile770=)
c.-630T>C (n.-630T>C)
5g.177211765T>GCA362324061NSD1c.2493T>G (p.Ile831Met)
n.612+7473T>G
n.2949T>G
c.3057T>G (p.Ile1019Met)
n.2763T>G
c.3366T>G (p.Ile1122Met)
n.3513T>G
c.2559T>G (p.Ile853Met)
c.2946T>G (p.Ile982Met)
c.2310T>G (p.Ile770Met)
c.-630T>G (n.-630T>G)
COSMIC COSMIC
5g.177211766T>ACA362324065NSD1c.2494T>A (p.Ser832Thr)
n.612+7474T>A
n.2950T>A
c.3058T>A (p.Ser1020Thr)
n.2764T>A
c.3367T>A (p.Ser1123Thr)
n.3514T>A
c.2560T>A (p.Ser854Thr)
c.2947T>A (p.Ser983Thr)
c.2311T>A (p.Ser771Thr)
c.-629T>A (n.-629T>A)
5g.177211766T>CCA362324068NSD1c.2494T>C (p.Ser832Pro)
n.612+7474T>C
n.2950T>C
c.3058T>C (p.Ser1020Pro)
n.2764T>C
c.3367T>C (p.Ser1123Pro)
n.3514T>C
c.2560T>C (p.Ser854Pro)
c.2947T>C (p.Ser983Pro)
c.2311T>C (p.Ser771Pro)
c.-629T>C (n.-629T>C)
5g.177211766T>GCA362324071NSD1c.2494T>G (p.Ser832Ala)
n.612+7474T>G
n.2950T>G
c.3058T>G (p.Ser1020Ala)
n.2764T>G
c.3367T>G (p.Ser1123Ala)
n.3514T>G
c.2560T>G (p.Ser854Ala)
c.2947T>G (p.Ser983Ala)
c.2311T>G (p.Ser771Ala)
c.-629T>G (n.-629T>G)
5g.177211767delCA2573052478NSD1c.2495del (p.Ser832LeufsTer18)
n.612+7475del
n.2951del
c.3059del (p.Ser1020LeufsTer18)
n.2765del
c.3368del (p.Ser1123LeufsTer18)
n.3515del
c.2561del (p.Ser854LeufsTer18)
c.2948del (p.Ser983LeufsTer18)
c.2312del (p.Ser771LeufsTer18)
c.-628del (n.-628del)
ClinVar dbSNP
5g.177211767C>ACA362324076NSD1c.2495C>A (p.Ser832Tyr)
n.612+7475C>A
n.2951C>A
c.3059C>A (p.Ser1020Tyr)
n.2765C>A
c.3368C>A (p.Ser1123Tyr)
n.3515C>A
c.2561C>A (p.Ser854Tyr)
c.2948C>A (p.Ser983Tyr)
c.2312C>A (p.Ser771Tyr)
c.-628C>A (n.-628C>A)
5g.177211767C>GCA362324078NSD1c.2495C>G (p.Ser832Cys)
n.612+7475C>G
n.2951C>G
c.3059C>G (p.Ser1020Cys)
n.2765C>G
c.3368C>G (p.Ser1123Cys)
n.3515C>G
c.2561C>G (p.Ser854Cys)
c.2948C>G (p.Ser983Cys)
c.2312C>G (p.Ser771Cys)
c.-628C>G (n.-628C>G)
dbSNP
5g.177211767C>TCA362324082NSD1c.2495C>T (p.Ser832Phe)
n.612+7475C>T
n.2951C>T
c.3059C>T (p.Ser1020Phe)
n.2765C>T
c.3368C>T (p.Ser1123Phe)
n.3515C>T
c.2561C>T (p.Ser854Phe)
c.2948C>T (p.Ser983Phe)
c.2312C>T (p.Ser771Phe)
c.-628C>T (n.-628C>T)
5g.177211768T>ACA447961094NSD1c.2496T>A (p.Ser832=)
n.612+7476T>A
n.2952T>A
c.3060T>A (p.Ser1020=)
n.2766T>A
c.3369T>A (p.Ser1123=)
n.3516T>A
c.2562T>A (p.Ser854=)
c.2949T>A (p.Ser983=)
c.2313T>A (p.Ser771=)
c.-627T>A (n.-627T>A)
5g.177211768T>CCA447961095NSD1c.2496T>C (p.Ser832=)
n.612+7476T>C
n.2952T>C
c.3060T>C (p.Ser1020=)
n.2766T>C
c.3369T>C (p.Ser1123=)
n.3516T>C
c.2562T>C (p.Ser854=)
c.2949T>C (p.Ser983=)
c.2313T>C (p.Ser771=)
c.-627T>C (n.-627T>C)
5g.177211768T>GCA447961096NSD1c.2496T>G (p.Ser832=)
n.612+7476T>G
n.2952T>G
c.3060T>G (p.Ser1020=)
n.2766T>G
c.3369T>G (p.Ser1123=)
n.3516T>G
c.2562T>G (p.Ser854=)
c.2949T>G (p.Ser983=)
c.2313T>G (p.Ser771=)
c.-627T>G (n.-627T>G)
5g.177211769G>ACA362324085NSD1c.2497G>A (p.Glu833Lys)
n.612+7477G>A
n.2953G>A
c.3061G>A (p.Glu1021Lys)
n.2767G>A
c.3370G>A (p.Glu1124Lys)
n.3517G>A
c.2563G>A (p.Glu855Lys)
c.2950G>A (p.Glu984Lys)
c.2314G>A (p.Glu772Lys)
c.-626G>A (n.-626G>A)
5g.177211769G>CCA362324091NSD1c.2497G>C (p.Glu833Gln)
n.612+7477G>C
n.2953G>C
c.3061G>C (p.Glu1021Gln)
n.2767G>C
c.3370G>C (p.Glu1124Gln)
n.3517G>C
c.2563G>C (p.Glu855Gln)
c.2950G>C (p.Glu984Gln)
c.2314G>C (p.Glu772Gln)
c.-626G>C (n.-626G>C)
5g.177211769G>TCA362324088NSD1c.2497G>T (p.Glu833Ter)
n.612+7477G>T
n.2953G>T
c.3061G>T (p.Glu1021Ter)
n.2767G>T
c.3370G>T (p.Glu1124Ter)
n.3517G>T
c.2563G>T (p.Glu855Ter)
c.2950G>T (p.Glu984Ter)
c.2314G>T (p.Glu772Ter)
c.-626G>T (n.-626G>T)
5g.177211770A=CA1603478852NSD1c.2498A= (p.Glu833=)
n.612+7478A=
n.2954A=
c.3062A= (p.Glu1021=)
n.2768A=
c.3371A= (p.Glu1124=)
n.3518A=
c.2564A= (p.Glu855=)
c.2951A= (p.Glu984=)
c.2315A= (p.Glu772=)
c.-625A= (n.-625A=)
5g.177211770A>CCA3577423NSD1c.2498A>C (p.Glu833Ala)
n.612+7478A>C
n.2954A>C
c.3062A>C (p.Glu1021Ala)
n.2768A>C
c.3371A>C (p.Glu1124Ala)
n.3518A>C
c.2564A>C (p.Glu855Ala)
c.2951A>C (p.Glu984Ala)
c.2315A>C (p.Glu772Ala)
c.-625A>C (n.-625A>C)
dbSNP ExAC gnomAD v2
5g.177211770A>GCA362324098NSD1c.2498A>G (p.Glu833Gly)
n.612+7478A>G
n.2954A>G
c.3062A>G (p.Glu1021Gly)
n.2768A>G
c.3371A>G (p.Glu1124Gly)
n.3518A>G
c.2564A>G (p.Glu855Gly)
c.2951A>G (p.Glu984Gly)
c.2315A>G (p.Glu772Gly)
c.-625A>G (n.-625A>G)
5g.177211770A>TCA362324101NSD1c.2498A>T (p.Glu833Val)
n.612+7478A>T
n.2954A>T
c.3062A>T (p.Glu1021Val)
n.2768A>T
c.3371A>T (p.Glu1124Val)
n.3518A>T
c.2564A>T (p.Glu855Val)
c.2951A>T (p.Glu984Val)
c.2315A>T (p.Glu772Val)
c.-625A>T (n.-625A>T)
5g.177211774delCA2711102353NSD1c.2502del (p.Gly835AspfsTer15)
n.612+7482del
n.2958del
c.3066del (p.Gly1023AspfsTer15)
n.2772del
c.3375del (p.Gly1126AspfsTer15)
n.3522del
c.2568del (p.Gly857AspfsTer15)
c.2955del (p.Gly986AspfsTer15)
c.2319del (p.Gly774AspfsTer15)
c.-621del (n.-621del)
dbSNP
5g.177211771A>CCA362324105NSD1c.2499A>C (p.Glu833Asp)
n.612+7479A>C
n.2955A>C
c.3063A>C (p.Glu1021Asp)
n.2769A>C
c.3372A>C (p.Glu1124Asp)
n.3519A>C
c.2565A>C (p.Glu855Asp)
c.2952A>C (p.Glu984Asp)
c.2316A>C (p.Glu772Asp)
c.-624A>C (n.-624A>C)
5g.177211771A>GCA447961097NSD1c.2499A>G (p.Glu833=)
n.612+7479A>G
n.2955A>G
c.3063A>G (p.Glu1021=)
n.2769A>G
c.3372A>G (p.Glu1124=)
n.3519A>G
c.2565A>G (p.Glu855=)
c.2952A>G (p.Glu984=)
c.2316A>G (p.Glu772=)
c.-624A>G (n.-624A>G)
5g.177211771A>TCA362324107NSD1c.2499A>T (p.Glu833Asp)
n.612+7479A>T
n.2955A>T
c.3063A>T (p.Glu1021Asp)
n.2769A>T
c.3372A>T (p.Glu1124Asp)
n.3519A>T
c.2565A>T (p.Glu855Asp)
c.2952A>T (p.Glu984Asp)
c.2316A>T (p.Glu772Asp)
c.-624A>T (n.-624A>T)
5g.177211777_177211800delCA2676687586NSD1c.2505_2528del (p.Leu836_Gly843del)
n.612+7485_612+7508del
n.2961_2984del
c.3069_3092del (p.Leu1024_Gly1031del)
n.2775_2798del
c.3378_3401del (p.Leu1127_Gly1134del)
n.3525_3548del
c.2571_2594del (p.Leu858_Gly865del)
c.2958_2981del (p.Leu987_Gly994del)
c.2322_2345del (p.Leu775_Gly782del)
c.-618_-595del (n.-618_-595del)
gnomAD v4
5g.177211772A=CA1603478859NSD1c.2500A= (p.Lys834=)
n.612+7480A=
n.2956A=
c.3064A= (p.Lys1022=)
n.2770A=
c.3373A= (p.Lys1125=)
n.3520A=
c.2566A= (p.Lys856=)
c.2953A= (p.Lys985=)
c.2317A= (p.Lys773=)
c.-623A= (n.-623A=)
5g.177211772A>CCA362324111NSD1c.2500A>C (p.Lys834Gln)
n.612+7480A>C
n.2956A>C
c.3064A>C (p.Lys1022Gln)
n.2770A>C
c.3373A>C (p.Lys1125Gln)
n.3520A>C
c.2566A>C (p.Lys856Gln)
c.2953A>C (p.Lys985Gln)
c.2317A>C (p.Lys773Gln)
c.-623A>C (n.-623A>C)
5g.177211772A>GCA362324114NSD1c.2500A>G (p.Lys834Glu)
n.612+7480A>G
n.2956A>G
c.3064A>G (p.Lys1022Glu)
n.2770A>G
c.3373A>G (p.Lys1125Glu)
n.3520A>G
c.2566A>G (p.Lys856Glu)
c.2953A>G (p.Lys985Glu)
c.2317A>G (p.Lys773Glu)
c.-623A>G (n.-623A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211772A>TCA362324116NSD1c.2500A>T (p.Lys834Ter)
n.612+7480A>T
n.2956A>T
c.3064A>T (p.Lys1022Ter)
n.2770A>T
c.3373A>T (p.Lys1125Ter)
n.3520A>T
c.2566A>T (p.Lys856Ter)
c.2953A>T (p.Lys985Ter)
c.2317A>T (p.Lys773Ter)
c.-623A>T (n.-623A>T)
5g.177211773A=CA1603478862NSD1c.2501A= (p.Lys834=)
n.612+7481A=
n.2957A=
c.3065A= (p.Lys1022=)
n.2771A=
c.3374A= (p.Lys1125=)
n.3521A=
c.2567A= (p.Lys856=)
c.2954A= (p.Lys985=)
c.2318A= (p.Lys773=)
c.-622A= (n.-622A=)
5g.177211773A>CCA362324120NSD1c.2501A>C (p.Lys834Thr)
n.612+7481A>C
n.2957A>C
c.3065A>C (p.Lys1022Thr)
n.2771A>C
c.3374A>C (p.Lys1125Thr)
n.3521A>C
c.2567A>C (p.Lys856Thr)
c.2954A>C (p.Lys985Thr)
c.2318A>C (p.Lys773Thr)
c.-622A>C (n.-622A>C)
5g.177211773A>GCA3577424NSD1c.2501A>G (p.Lys834Arg)
n.612+7481A>G
n.2957A>G
c.3065A>G (p.Lys1022Arg)
n.2771A>G
c.3374A>G (p.Lys1125Arg)
n.3521A>G
c.2567A>G (p.Lys856Arg)
c.2954A>G (p.Lys985Arg)
c.2318A>G (p.Lys773Arg)
c.-622A>G (n.-622A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211773A>TCA362324125NSD1c.2501A>T (p.Lys834Ile)
n.612+7481A>T
n.2957A>T
c.3065A>T (p.Lys1022Ile)
n.2771A>T
c.3374A>T (p.Lys1125Ile)
n.3521A>T
c.2567A>T (p.Lys856Ile)
c.2954A>T (p.Lys985Ile)
c.2318A>T (p.Lys773Ile)
c.-622A>T (n.-622A>T)
5g.177211774A>CCA362324132NSD1c.2502A>C (p.Lys834Asn)
n.612+7482A>C
n.2958A>C
c.3066A>C (p.Lys1022Asn)
n.2772A>C
c.3375A>C (p.Lys1125Asn)
n.3522A>C
c.2568A>C (p.Lys856Asn)
c.2955A>C (p.Lys985Asn)
c.2319A>C (p.Lys773Asn)
c.-621A>C (n.-621A>C)
5g.177211774A>GCA447961098NSD1c.2502A>G (p.Lys834=)
n.612+7482A>G
n.2958A>G
c.3066A>G (p.Lys1022=)
n.2772A>G
c.3375A>G (p.Lys1125=)
n.3522A>G
c.2568A>G (p.Lys856=)
c.2955A>G (p.Lys985=)
c.2319A>G (p.Lys773=)
c.-621A>G (n.-621A>G)
dbSNP
5g.177211774A>TCA362324129NSD1c.2502A>T (p.Lys834Asn)
n.612+7482A>T
n.2958A>T
c.3066A>T (p.Lys1022Asn)
n.2772A>T
c.3375A>T (p.Lys1125Asn)
n.3522A>T
c.2568A>T (p.Lys856Asn)
c.2955A>T (p.Lys985Asn)
c.2319A>T (p.Lys773Asn)
c.-621A>T (n.-621A>T)
5g.177211775G>ACA3577425NSD1c.2503G>A (p.Gly835Arg)
n.612+7483G>A
n.2959G>A
c.3067G>A (p.Gly1023Arg)
n.2773G>A
c.3376G>A (p.Gly1126Arg)
n.3523G>A
c.2569G>A (p.Gly857Arg)
c.2956G>A (p.Gly986Arg)
c.2320G>A (p.Gly774Arg)
c.-620G>A (n.-620G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211775G>CCA362324138NSD1c.2503G>C (p.Gly835Arg)
n.612+7483G>C
n.2959G>C
c.3067G>C (p.Gly1023Arg)
n.2773G>C
c.3376G>C (p.Gly1126Arg)
n.3523G>C
c.2569G>C (p.Gly857Arg)
c.2956G>C (p.Gly986Arg)
c.2320G>C (p.Gly774Arg)
c.-620G>C (n.-620G>C)
5g.177211775G=CA1603478863NSD1c.2503G= (p.Gly835=)
n.612+7483G=
n.2959G=
c.3067G= (p.Gly1023=)
n.2773G=
c.3376G= (p.Gly1126=)
n.3523G=
c.2569G= (p.Gly857=)
c.2956G= (p.Gly986=)
c.2320G= (p.Gly774=)
c.-620G= (n.-620G=)
5g.177211775G>TCA362324141NSD1c.2503G>T (p.Gly835Ter)
n.612+7483G>T
n.2959G>T
c.3067G>T (p.Gly1023Ter)
n.2773G>T
c.3376G>T (p.Gly1126Ter)
n.3523G>T
c.2569G>T (p.Gly857Ter)
c.2956G>T (p.Gly986Ter)
c.2320G>T (p.Gly774Ter)
c.-620G>T (n.-620G>T)
5g.177211776G>ACA362324147NSD1c.2504G>A (p.Gly835Glu)
n.612+7484G>A
n.2960G>A
c.3068G>A (p.Gly1023Glu)
n.2774G>A
c.3377G>A (p.Gly1126Glu)
n.3524G>A
c.2570G>A (p.Gly857Glu)
c.2957G>A (p.Gly986Glu)
c.2321G>A (p.Gly774Glu)
c.-619G>A (n.-619G>A)
gnomAD v4
5g.177211776G>CCA362324150NSD1c.2504G>C (p.Gly835Ala)
n.612+7484G>C
n.2960G>C
c.3068G>C (p.Gly1023Ala)
n.2774G>C
c.3377G>C (p.Gly1126Ala)
n.3524G>C
c.2570G>C (p.Gly857Ala)
c.2957G>C (p.Gly986Ala)
c.2321G>C (p.Gly774Ala)
c.-619G>C (n.-619G>C)
dbSNP
5g.177211776G>TCA362324154NSD1c.2504G>T (p.Gly835Val)
n.612+7484G>T
n.2960G>T
c.3068G>T (p.Gly1023Val)
n.2774G>T
c.3377G>T (p.Gly1126Val)
n.3524G>T
c.2570G>T (p.Gly857Val)
c.2957G>T (p.Gly986Val)
c.2321G>T (p.Gly774Val)
c.-619G>T (n.-619G>T)
dbSNP
5g.177211777A=CA1603478870NSD1c.2505A= (p.Gly835=)
n.612+7485A=
n.2961A=
c.3069A= (p.Gly1023=)
n.2775A=
c.3378A= (p.Gly1126=)
n.3525A=
c.2571A= (p.Gly857=)
c.2958A= (p.Gly986=)
c.2322A= (p.Gly774=)
c.-618A= (n.-618A=)
5g.177211777A>CCA447961099NSD1c.2505A>C (p.Gly835=)
n.612+7485A>C
n.2961A>C
c.3069A>C (p.Gly1023=)
n.2775A>C
c.3378A>C (p.Gly1126=)
n.3525A>C
c.2571A>C (p.Gly857=)
c.2958A>C (p.Gly986=)
c.2322A>C (p.Gly774=)
c.-618A>C (n.-618A>C)
5g.177211777A>GCA132831364NSD1c.2505A>G (p.Gly835=)
n.612+7485A>G
n.2961A>G
c.3069A>G (p.Gly1023=)
n.2775A>G
c.3378A>G (p.Gly1126=)
n.3525A>G
c.2571A>G (p.Gly857=)
c.2958A>G (p.Gly986=)
c.2322A>G (p.Gly774=)
c.-618A>G (n.-618A>G)
dbSNP gnomAD v3 gnomAD v4
5g.177211777A>TCA447961100NSD1c.2505A>T (p.Gly835=)
n.612+7485A>T
n.2961A>T
c.3069A>T (p.Gly1023=)
n.2775A>T
c.3378A>T (p.Gly1126=)
n.3525A>T
c.2571A>T (p.Gly857=)
c.2958A>T (p.Gly986=)
c.2322A>T (p.Gly774=)
c.-618A>T (n.-618A>T)
dbSNP
5g.177211777_177211779delinsACTCA1603478867NSD1c.2505_2507delinsACT (p.Gly835=)
n.612+7485_612+7487delinsACT
n.2961_2963delinsACT
c.3069_3071delinsACT (p.Gly1023=)
n.2775_2777delinsACT
c.3378_3380delinsACT (p.Gly1126=)
n.3525_3527delinsACT
c.2571_2573delinsACT (p.Gly857=)
c.2958_2960delinsACT (p.Gly986=)
c.2322_2324delinsACT (p.Gly774=)
c.-618_-616delinsACT (n.-618_-616delinsACT)
5g.177211778C>ACA362324166NSD1c.2506C>A (p.Leu836Ile)
n.612+7486C>A
n.2962C>A
c.3070C>A (p.Leu1024Ile)
n.2776C>A
c.3379C>A (p.Leu1127Ile)
n.3526C>A
c.2572C>A (p.Leu858Ile)
c.2959C>A (p.Leu987Ile)
c.2323C>A (p.Leu775Ile)
c.-617C>A (n.-617C>A)
5g.177211778C>GCA362324164NSD1c.2506C>G (p.Leu836Val)
n.612+7486C>G
n.2962C>G
c.3070C>G (p.Leu1024Val)
n.2776C>G
c.3379C>G (p.Leu1127Val)
n.3526C>G
c.2572C>G (p.Leu858Val)
c.2959C>G (p.Leu987Val)
c.2323C>G (p.Leu775Val)
c.-617C>G (n.-617C>G)
dbSNP
5g.177211778C>TCA362324162NSD1c.2506C>T (p.Leu836Phe)
n.612+7486C>T
n.2962C>T
c.3070C>T (p.Leu1024Phe)
n.2776C>T
c.3379C>T (p.Leu1127Phe)
n.3526C>T
c.2572C>T (p.Leu858Phe)
c.2959C>T (p.Leu987Phe)
c.2323C>T (p.Leu775Phe)
c.-617C>T (n.-617C>T)
gnomAD v4
5g.177211782_177211783delCA294851NSD1c.2510_2511del (p.Ser837PhefsTer2)
n.612+7490_612+7491del
n.2966_2967del
c.3074_3075del (p.Ser1025PhefsTer2)
n.2780_2781del
c.3383_3384del (p.Ser1128PhefsTer2)
n.3530_3531del
c.2576_2577del (p.Ser859PhefsTer2)
c.2963_2964del (p.Ser988PhefsTer2)
c.2327_2328del (p.Ser776PhefsTer2)
c.-613_-612del (n.-613_-612del)
ClinVar dbSNP
5g.177211779T>ACA362324172NSD1c.2507T>A (p.Leu836His)
n.612+7487T>A
n.2963T>A
c.3071T>A (p.Leu1024His)
n.2777T>A
c.3380T>A (p.Leu1127His)
n.3527T>A
c.2573T>A (p.Leu858His)
c.2960T>A (p.Leu987His)
c.2324T>A (p.Leu775His)
c.-616T>A (n.-616T>A)
5g.177211779T>CCA362324176NSD1c.2507T>C (p.Leu836Pro)
n.612+7487T>C
n.2963T>C
c.3071T>C (p.Leu1024Pro)
n.2777T>C
c.3380T>C (p.Leu1127Pro)
n.3527T>C
c.2573T>C (p.Leu858Pro)
c.2960T>C (p.Leu987Pro)
c.2324T>C (p.Leu775Pro)
c.-616T>C (n.-616T>C)
5g.177211779T>GCA362324179NSD1c.2507T>G (p.Leu836Arg)
n.612+7487T>G
n.2963T>G
c.3071T>G (p.Leu1024Arg)
n.2777T>G
c.3380T>G (p.Leu1127Arg)
n.3527T>G
c.2573T>G (p.Leu858Arg)
c.2960T>G (p.Leu987Arg)
c.2324T>G (p.Leu775Arg)
c.-616T>G (n.-616T>G)
COSMIC COSMIC
5g.177211780C>ACA447961103NSD1c.2508C>A (p.Leu836=)
n.612+7488C>A
n.2964C>A
c.3072C>A (p.Leu1024=)
n.2778C>A
c.3381C>A (p.Leu1127=)
n.3528C>A
c.2574C>A (p.Leu858=)
c.2961C>A (p.Leu987=)
c.2325C>A (p.Leu775=)
c.-615C>A (n.-615C>A)
5g.177211780C=CA1603478881NSD1c.2508C= (p.Leu836=)
n.612+7488C=
n.2964C=
c.3072C= (p.Leu1024=)
n.2778C=
c.3381C= (p.Leu1127=)
n.3528C=
c.2574C= (p.Leu858=)
c.2961C= (p.Leu987=)
c.2325C= (p.Leu775=)
c.-615C= (n.-615C=)
5g.177211780C>GCA447961102NSD1c.2508C>G (p.Leu836=)
n.612+7488C>G
n.2964C>G
c.3072C>G (p.Leu1024=)
n.2778C>G
c.3381C>G (p.Leu1127=)
n.3528C>G
c.2574C>G (p.Leu858=)
c.2961C>G (p.Leu987=)
c.2325C>G (p.Leu775=)
c.-615C>G (n.-615C>G)
5g.177211780C>TCA447961101NSD1c.2508C>T (p.Leu836=)
n.612+7488C>T
n.2964C>T
c.3072C>T (p.Leu1024=)
n.2778C>T
c.3381C>T (p.Leu1127=)
n.3528C>T
c.2574C>T (p.Leu858=)
c.2961C>T (p.Leu987=)
c.2325C>T (p.Leu775=)
c.-615C>T (n.-615C>T)
5g.177211781T>ACA362324183NSD1c.2509T>A (p.Ser837Thr)
n.612+7489T>A
n.2965T>A
c.3073T>A (p.Ser1025Thr)
n.2779T>A
c.3382T>A (p.Ser1128Thr)
n.3529T>A
c.2575T>A (p.Ser859Thr)
c.2962T>A (p.Ser988Thr)
c.2326T>A (p.Ser776Thr)
c.-614T>A (n.-614T>A)
5g.177211781T>CCA362324186NSD1c.2509T>C (p.Ser837Pro)
n.612+7489T>C
n.2965T>C
c.3073T>C (p.Ser1025Pro)
n.2779T>C
c.3382T>C (p.Ser1128Pro)
n.3529T>C
c.2575T>C (p.Ser859Pro)
c.2962T>C (p.Ser988Pro)
c.2326T>C (p.Ser776Pro)
c.-614T>C (n.-614T>C)
5g.177211781T>GCA362324189NSD1c.2509T>G (p.Ser837Ala)
n.612+7489T>G
n.2965T>G
c.3073T>G (p.Ser1025Ala)
n.2779T>G
c.3382T>G (p.Ser1128Ala)
n.3529T>G
c.2575T>G (p.Ser859Ala)
c.2962T>G (p.Ser988Ala)
c.2326T>G (p.Ser776Ala)
c.-614T>G (n.-614T>G)
gnomAD v4
5g.177211781dupCA10605938NSD1c.2509dup (p.Ser837PhefsTer3)
n.612+7489dup
n.2965dup
c.3073dup (p.Ser1025PhefsTer3)
n.2779dup
c.3382dup (p.Ser1128PhefsTer3)
n.3529dup
c.2575dup (p.Ser859PhefsTer3)
c.2962dup (p.Ser988PhefsTer3)
c.2326dup (p.Ser776PhefsTer3)
c.-614dup (n.-614dup)
ClinVar dbSNP
5g.177211782delCA2580074138NSD1c.2510del (p.Ser837PhefsTer13)
n.612+7490del
n.2966del
c.3074del (p.Ser1025PhefsTer13)
n.2780del
c.3383del (p.Ser1128PhefsTer13)
n.3530del
c.2576del (p.Ser859PhefsTer13)
c.2963del (p.Ser988PhefsTer13)
c.2327del (p.Ser776PhefsTer13)
c.-613del (n.-613del)
ClinVar
5g.177211782C>ACA3577426NSD1c.2510C>A (p.Ser837Tyr)
n.612+7490C>A
n.2966C>A
c.3074C>A (p.Ser1025Tyr)
n.2780C>A
c.3383C>A (p.Ser1128Tyr)
n.3530C>A
c.2576C>A (p.Ser859Tyr)
c.2963C>A (p.Ser988Tyr)
c.2327C>A (p.Ser776Tyr)
c.-613C>A (n.-613C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211782C=CA1603478887NSD1c.2510C= (p.Ser837=)
n.612+7490C=
n.2966C=
c.3074C= (p.Ser1025=)
n.2780C=
c.3383C= (p.Ser1128=)
n.3530C=
c.2576C= (p.Ser859=)
c.2963C= (p.Ser988=)
c.2327C= (p.Ser776=)
c.-613C= (n.-613C=)
5g.177211782C>GCA362324199NSD1c.2510C>G (p.Ser837Cys)
n.612+7490C>G
n.2966C>G
c.3074C>G (p.Ser1025Cys)
n.2780C>G
c.3383C>G (p.Ser1128Cys)
n.3530C>G
c.2576C>G (p.Ser859Cys)
c.2963C>G (p.Ser988Cys)
c.2327C>G (p.Ser776Cys)
c.-613C>G (n.-613C>G)
5g.177211782C>TCA246221NSD1c.2510C>T (p.Ser837Phe)
n.612+7490C>T
n.2966C>T
c.3074C>T (p.Ser1025Phe)
n.2780C>T
c.3383C>T (p.Ser1128Phe)
n.3530C>T
c.2576C>T (p.Ser859Phe)
c.2963C>T (p.Ser988Phe)
c.2327C>T (p.Ser776Phe)
c.-613C>T (n.-613C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211782_177211784delinsCTTCA1603478889NSD1c.2510_2512delinsCTT (p.Ser837=)
n.612+7490_612+7492delinsCTT
n.2966_2968delinsCTT
c.3074_3076delinsCTT (p.Ser1025=)
n.2780_2782delinsCTT
c.3383_3385delinsCTT (p.Ser1128=)
n.3530_3532delinsCTT
c.2576_2578delinsCTT (p.Ser859=)
c.2963_2965delinsCTT (p.Ser988=)
c.2327_2329delinsCTT (p.Ser776=)
c.-613_-611delinsCTT (n.-613_-611delinsCTT)
5g.177211783T>ACA447961104NSD1c.2511T>A (p.Ser837=)
n.612+7491T>A
n.2967T>A
c.3075T>A (p.Ser1025=)
n.2781T>A
c.3384T>A (p.Ser1128=)
n.3531T>A
c.2577T>A (p.Ser859=)
c.2964T>A (p.Ser988=)
c.2328T>A (p.Ser776=)
c.-612T>A (n.-612T>A)
gnomAD v4
5g.177211783T>CCA447961105NSD1c.2511T>C (p.Ser837=)
n.612+7491T>C
n.2967T>C
c.3075T>C (p.Ser1025=)
n.2781T>C
c.3384T>C (p.Ser1128=)
n.3531T>C
c.2577T>C (p.Ser859=)
c.2964T>C (p.Ser988=)
c.2328T>C (p.Ser776=)
c.-612T>C (n.-612T>C)
5g.177211783T>GCA447961106NSD1c.2511T>G (p.Ser837=)
n.612+7491T>G
n.2967T>G
c.3075T>G (p.Ser1025=)
n.2781T>G
c.3384T>G (p.Ser1128=)
n.3531T>G
c.2577T>G (p.Ser859=)
c.2964T>G (p.Ser988=)
c.2328T>G (p.Ser776=)
c.-612T>G (n.-612T>G)
5g.177211785_177211786delCA658655925NSD1c.2513_2514del (p.Phe838Ter)
n.612+7493_612+7494del
n.2969_2970del
c.3077_3078del (p.Phe1026Ter)
n.2783_2784del
c.3386_3387del (p.Phe1129Ter)
n.3533_3534del
c.2579_2580del (p.Phe860Ter)
c.2966_2967del (p.Phe989Ter)
c.2330_2331del (p.Phe777Ter)
c.-610_-609del (n.-610_-609del)
ClinVar dbSNP
5g.177211784T>ACA362324200NSD1c.2512T>A (p.Phe838Ile)
n.612+7492T>A
n.2968T>A
c.3076T>A (p.Phe1026Ile)
n.2782T>A
c.3385T>A (p.Phe1129Ile)
n.3532T>A
c.2578T>A (p.Phe860Ile)
c.2965T>A (p.Phe989Ile)
c.2329T>A (p.Phe777Ile)
c.-611T>A (n.-611T>A)
5g.177211784T>CCA362324201NSD1c.2512T>C (p.Phe838Leu)
n.612+7492T>C
n.2968T>C
c.3076T>C (p.Phe1026Leu)
n.2782T>C
c.3385T>C (p.Phe1129Leu)
n.3532T>C
c.2578T>C (p.Phe860Leu)
c.2965T>C (p.Phe989Leu)
c.2329T>C (p.Phe777Leu)
c.-611T>C (n.-611T>C)
5g.177211784T>GCA362324202NSD1c.2512T>G (p.Phe838Val)
n.612+7492T>G
n.2968T>G
c.3076T>G (p.Phe1026Val)
n.2782T>G
c.3385T>G (p.Phe1129Val)
n.3532T>G
c.2578T>G (p.Phe860Val)
c.2965T>G (p.Phe989Val)
c.2329T>G (p.Phe777Val)
c.-611T>G (n.-611T>G)
5g.177211785T>ACA362324205NSD1c.2513T>A (p.Phe838Tyr)
n.612+7493T>A
n.2969T>A
c.3077T>A (p.Phe1026Tyr)
n.2783T>A
c.3386T>A (p.Phe1129Tyr)
n.3533T>A
c.2579T>A (p.Phe860Tyr)
c.2966T>A (p.Phe989Tyr)
c.2330T>A (p.Phe777Tyr)
c.-610T>A (n.-610T>A)
5g.177211785T>CCA362324207NSD1c.2513T>C (p.Phe838Ser)
n.612+7493T>C
n.2969T>C
c.3077T>C (p.Phe1026Ser)
n.2783T>C
c.3386T>C (p.Phe1129Ser)
n.3533T>C
c.2579T>C (p.Phe860Ser)
c.2966T>C (p.Phe989Ser)
c.2330T>C (p.Phe777Ser)
c.-610T>C (n.-610T>C)
dbSNP
5g.177211785T>GCA362324209NSD1c.2513T>G (p.Phe838Cys)
n.612+7493T>G
n.2969T>G
c.3077T>G (p.Phe1026Cys)
n.2783T>G
c.3386T>G (p.Phe1129Cys)
n.3533T>G
c.2579T>G (p.Phe860Cys)
c.2966T>G (p.Phe989Cys)
c.2330T>G (p.Phe777Cys)
c.-610T>G (n.-610T>G)
5g.177211785_177211788delinsTTGACA1603478892NSD1c.2513_2516delinsTTGA (p.Phe838=)
n.612+7493_612+7496delinsTTGA
n.2969_2972delinsTTGA
c.3077_3080delinsTTGA (p.Phe1026=)
n.2783_2786delinsTTGA
c.3386_3389delinsTTGA (p.Phe1129=)
n.3533_3536delinsTTGA
c.2579_2582delinsTTGA (p.Phe860=)
c.2966_2969delinsTTGA (p.Phe989=)
c.2330_2333delinsTTGA (p.Phe777=)
c.-610_-607delinsTTGA (n.-610_-607delinsTTGA)
5g.177211786T>ACA362324214NSD1c.2514T>A (p.Phe838Leu)
n.612+7494T>A
n.2970T>A
c.3078T>A (p.Phe1026Leu)
n.2784T>A
c.3387T>A (p.Phe1129Leu)
n.3534T>A
c.2580T>A (p.Phe860Leu)
c.2967T>A (p.Phe989Leu)
c.2331T>A (p.Phe777Leu)
c.-609T>A (n.-609T>A)
5g.177211786T>CCA3577427NSD1c.2514T>C (p.Phe838=)
n.612+7494T>C
n.2970T>C
c.3078T>C (p.Phe1026=)
n.2784T>C
c.3387T>C (p.Phe1129=)
n.3534T>C
c.2580T>C (p.Phe860=)
c.2967T>C (p.Phe989=)
c.2331T>C (p.Phe777=)
c.-609T>C (n.-609T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211786T>GCA362324217NSD1c.2514T>G (p.Phe838Leu)
n.612+7494T>G
n.2970T>G
c.3078T>G (p.Phe1026Leu)
n.2784T>G
c.3387T>G (p.Phe1129Leu)
n.3534T>G
c.2580T>G (p.Phe860Leu)
c.2967T>G (p.Phe989Leu)
c.2331T>G (p.Phe777Leu)
c.-609T>G (n.-609T>G)
5g.177211786T=CA1603478894NSD1c.2514T= (p.Phe838=)
n.612+7494T=
n.2970T=
c.3078T= (p.Phe1026=)
n.2784T=
c.3387T= (p.Phe1129=)
n.3534T=
c.2580T= (p.Phe860=)
c.2967T= (p.Phe989=)
c.2331T= (p.Phe777=)
c.-609T= (n.-609T=)
5g.177211786_177211788delinsGGCA10588399NSD1c.2514_2516delinsGG (p.Phe838LeufsTer12)
n.612+7494_612+7496delinsGG
n.2970_2972delinsGG
c.3078_3080delinsGG (p.Phe1026LeufsTer12)
n.2784_2786delinsGG
c.3387_3389delinsGG (p.Phe1129LeufsTer12)
n.3534_3536delinsGG
c.2580_2582delinsGG (p.Phe860LeufsTer12)
c.2967_2969delinsGG (p.Phe989LeufsTer12)
c.2331_2333delinsGG (p.Phe777LeufsTer12)
c.-609_-607delinsGG (n.-609_-607delinsGG)
ClinVar dbSNP
5g.177211787G>ACA362324225NSD1c.2515G>A (p.Glu839Lys)
n.612+7495G>A
n.2971G>A
c.3079G>A (p.Glu1027Lys)
n.2785G>A
c.3388G>A (p.Glu1130Lys)
n.3535G>A
c.2581G>A (p.Glu861Lys)
c.2968G>A (p.Glu990Lys)
c.2332G>A (p.Glu778Lys)
c.-608G>A (n.-608G>A)
5g.177211787G>CCA362324231NSD1c.2515G>C (p.Glu839Gln)
n.612+7495G>C
n.2971G>C
c.3079G>C (p.Glu1027Gln)
n.2785G>C
c.3388G>C (p.Glu1130Gln)
n.3535G>C
c.2581G>C (p.Glu861Gln)
c.2968G>C (p.Glu990Gln)
c.2332G>C (p.Glu778Gln)
c.-608G>C (n.-608G>C)
dbSNP COSMIC COSMIC
5g.177211787G>TCA362324227NSD1c.2515G>T (p.Glu839Ter)
n.612+7495G>T
n.2971G>T
c.3079G>T (p.Glu1027Ter)
n.2785G>T
c.3388G>T (p.Glu1130Ter)
n.3535G>T
c.2581G>T (p.Glu861Ter)
c.2968G>T (p.Glu990Ter)
c.2332G>T (p.Glu778Ter)
c.-608G>T (n.-608G>T)
5g.177211788A=CA1603478903NSD1c.2516A= (p.Glu839=)
n.612+7496A=
n.2972A=
c.3080A= (p.Glu1027=)
n.2786A=
c.3389A= (p.Glu1130=)
n.3536A=
c.2582A= (p.Glu861=)
c.2969A= (p.Glu990=)
c.2333A= (p.Glu778=)
c.-607A= (n.-607A=)
5g.177211788A>CCA362324234NSD1c.2516A>C (p.Glu839Ala)
n.612+7496A>C
n.2972A>C
c.3080A>C (p.Glu1027Ala)
n.2786A>C
c.3389A>C (p.Glu1130Ala)
n.3536A>C
c.2582A>C (p.Glu861Ala)
c.2969A>C (p.Glu990Ala)
c.2333A>C (p.Glu778Ala)
c.-607A>C (n.-607A>C)
5g.177211788A>GCA223670NSD1c.2516A>G (p.Glu839Gly)
n.612+7496A>G
n.2972A>G
c.3080A>G (p.Glu1027Gly)
n.2786A>G
c.3389A>G (p.Glu1130Gly)
n.3536A>G
c.2582A>G (p.Glu861Gly)
c.2969A>G (p.Glu990Gly)
c.2333A>G (p.Glu778Gly)
c.-607A>G (n.-607A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211788A>TCA362324240NSD1c.2516A>T (p.Glu839Val)
n.612+7496A>T
n.2972A>T
c.3080A>T (p.Glu1027Val)
n.2786A>T
c.3389A>T (p.Glu1130Val)
n.3536A>T
c.2582A>T (p.Glu861Val)
c.2969A>T (p.Glu990Val)
c.2333A>T (p.Glu778Val)
c.-607A>T (n.-607A>T)
5g.177211789A>CCA362324243NSD1c.2517A>C (p.Glu839Asp)
n.612+7497A>C
n.2973A>C
c.3081A>C (p.Glu1027Asp)
n.2787A>C
c.3390A>C (p.Glu1130Asp)
n.3537A>C
c.2583A>C (p.Glu861Asp)
c.2970A>C (p.Glu990Asp)
c.2334A>C (p.Glu778Asp)
c.-606A>C (n.-606A>C)
5g.177211789A>GCA447961107NSD1c.2517A>G (p.Glu839=)
n.612+7497A>G
n.2973A>G
c.3081A>G (p.Glu1027=)
n.2787A>G
c.3390A>G (p.Glu1130=)
n.3537A>G
c.2583A>G (p.Glu861=)
c.2970A>G (p.Glu990=)
c.2334A>G (p.Glu778=)
c.-606A>G (n.-606A>G)
5g.177211789A>TCA362324246NSD1c.2517A>T (p.Glu839Asp)
n.612+7497A>T
n.2973A>T
c.3081A>T (p.Glu1027Asp)
n.2787A>T
c.3390A>T (p.Glu1130Asp)
n.3537A>T
c.2583A>T (p.Glu861Asp)
c.2970A>T (p.Glu990Asp)
c.2334A>T (p.Glu778Asp)
c.-606A>T (n.-606A>T)
5g.177211790A>CCA362324250NSD1c.2518A>C (p.Asn840His)
n.612+7498A>C
n.2974A>C
c.3082A>C (p.Asn1028His)
n.2788A>C
c.3391A>C (p.Asn1131His)
n.3538A>C
c.2584A>C (p.Asn862His)
c.2971A>C (p.Asn991His)
c.2335A>C (p.Asn779His)
c.-605A>C (n.-605A>C)
5g.177211790A>GCA362324253NSD1c.2518A>G (p.Asn840Asp)
n.612+7498A>G
n.2974A>G
c.3082A>G (p.Asn1028Asp)
n.2788A>G
c.3391A>G (p.Asn1131Asp)
n.3538A>G
c.2584A>G (p.Asn862Asp)
c.2971A>G (p.Asn991Asp)
c.2335A>G (p.Asn779Asp)
c.-605A>G (n.-605A>G)
gnomAD v4
5g.177211790A>TCA362324254NSD1c.2518A>T (p.Asn840Tyr)
n.612+7498A>T
n.2974A>T
c.3082A>T (p.Asn1028Tyr)
n.2788A>T
c.3391A>T (p.Asn1131Tyr)
n.3538A>T
c.2584A>T (p.Asn862Tyr)
c.2971A>T (p.Asn991Tyr)
c.2335A>T (p.Asn779Tyr)
c.-605A>T (n.-605A>T)
5g.177211791A>CCA362324259NSD1c.2519A>C (p.Asn840Thr)
n.612+7499A>C
n.2975A>C
c.3083A>C (p.Asn1028Thr)
n.2789A>C
c.3392A>C (p.Asn1131Thr)
n.3539A>C
c.2585A>C (p.Asn862Thr)
c.2972A>C (p.Asn991Thr)
c.2336A>C (p.Asn779Thr)
c.-604A>C (n.-604A>C)
5g.177211791A>GCA362324261NSD1c.2519A>G (p.Asn840Ser)
n.612+7499A>G
n.2975A>G
c.3083A>G (p.Asn1028Ser)
n.2789A>G
c.3392A>G (p.Asn1131Ser)
n.3539A>G
c.2585A>G (p.Asn862Ser)
c.2972A>G (p.Asn991Ser)
c.2336A>G (p.Asn779Ser)
c.-604A>G (n.-604A>G)
5g.177211791A>TCA362324265NSD1c.2519A>T (p.Asn840Ile)
n.612+7499A>T
n.2975A>T
c.3083A>T (p.Asn1028Ile)
n.2789A>T
c.3392A>T (p.Asn1131Ile)
n.3539A>T
c.2585A>T (p.Asn862Ile)
c.2972A>T (p.Asn991Ile)
c.2336A>T (p.Asn779Ile)
c.-604A>T (n.-604A>T)
5g.177211792C>ACA362324276NSD1c.2520C>A (p.Asn840Lys)
n.612+7500C>A
n.2976C>A
c.3084C>A (p.Asn1028Lys)
n.2790C>A
c.3393C>A (p.Asn1131Lys)
n.3540C>A
c.2586C>A (p.Asn862Lys)
c.2973C>A (p.Asn991Lys)
c.2337C>A (p.Asn779Lys)
c.-603C>A (n.-603C>A)
5g.177211792C=CA1603478920NSD1c.2520C= (p.Asn840=)
n.612+7500C=
n.2976C=
c.3084C= (p.Asn1028=)
n.2790C=
c.3393C= (p.Asn1131=)
n.3540C=
c.2586C= (p.Asn862=)
c.2973C= (p.Asn991=)
c.2337C= (p.Asn779=)
c.-603C= (n.-603C=)
5g.177211792C>GCA362324271NSD1c.2520C>G (p.Asn840Lys)
n.612+7500C>G
n.2976C>G
c.3084C>G (p.Asn1028Lys)
n.2790C>G
c.3393C>G (p.Asn1131Lys)
n.3540C>G
c.2586C>G (p.Asn862Lys)
c.2973C>G (p.Asn991Lys)
c.2337C>G (p.Asn779Lys)
c.-603C>G (n.-603C>G)
dbSNP
5g.177211792C>TCA223673NSD1c.2520C>T (p.Asn840=)
n.612+7500C>T
n.2976C>T
c.3084C>T (p.Asn1028=)
n.2790C>T
c.3393C>T (p.Asn1131=)
n.3540C>T
c.2586C>T (p.Asn862=)
c.2973C>T (p.Asn991=)
c.2337C>T (p.Asn779=)
c.-603C>T (n.-603C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211793G>ACA246224NSD1c.2521G>A (p.Gly841Arg)
n.612+7501G>A
n.2977G>A
c.3085G>A (p.Gly1029Arg)
n.2791G>A
c.3394G>A (p.Gly1132Arg)
n.3541G>A
c.2587G>A (p.Gly863Arg)
c.2974G>A (p.Gly992Arg)
c.2338G>A (p.Gly780Arg)
c.-602G>A (n.-602G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211793G>CCA362324282NSD1c.2521G>C (p.Gly841Arg)
n.612+7501G>C
n.2977G>C
c.3085G>C (p.Gly1029Arg)
n.2791G>C
c.3394G>C (p.Gly1132Arg)
n.3541G>C
c.2587G>C (p.Gly863Arg)
c.2974G>C (p.Gly992Arg)
c.2338G>C (p.Gly780Arg)
c.-602G>C (n.-602G>C)
5g.177211793G=CA1603478926NSD1c.2521G= (p.Gly841=)
n.612+7501G=
n.2977G=
c.3085G= (p.Gly1029=)
n.2791G=
c.3394G= (p.Gly1132=)
n.3541G=
c.2587G= (p.Gly863=)
c.2974G= (p.Gly992=)
c.2338G= (p.Gly780=)
c.-602G= (n.-602G=)
5g.177211793G>TCA362324285NSD1c.2521G>T (p.Gly841Ter)
n.612+7501G>T
n.2977G>T
c.3085G>T (p.Gly1029Ter)
n.2791G>T
c.3394G>T (p.Gly1132Ter)
n.3541G>T
c.2587G>T (p.Gly863Ter)
c.2974G>T (p.Gly992Ter)
c.2338G>T (p.Gly780Ter)
c.-602G>T (n.-602G>T)
dbSNP COSMIC COSMIC
5g.177211794G>ACA362324290NSD1c.2522G>A (p.Gly841Glu)
n.612+7502G>A
n.2978G>A
c.3086G>A (p.Gly1029Glu)
n.2792G>A
c.3395G>A (p.Gly1132Glu)
n.3542G>A
c.2588G>A (p.Gly863Glu)
c.2975G>A (p.Gly992Glu)
c.2339G>A (p.Gly780Glu)
c.-601G>A (n.-601G>A)
dbSNP
5g.177211794G>CCA362324293NSD1c.2522G>C (p.Gly841Ala)
n.612+7502G>C
n.2978G>C
c.3086G>C (p.Gly1029Ala)
n.2792G>C
c.3395G>C (p.Gly1132Ala)
n.3542G>C
c.2588G>C (p.Gly863Ala)
c.2975G>C (p.Gly992Ala)
c.2339G>C (p.Gly780Ala)
c.-601G>C (n.-601G>C)
5g.177211794G=CA1603478930NSD1c.2522G= (p.Gly841=)
n.612+7502G=
n.2978G=
c.3086G= (p.Gly1029=)
n.2792G=
c.3395G= (p.Gly1132=)
n.3542G=
c.2588G= (p.Gly863=)
c.2975G= (p.Gly992=)
c.2339G= (p.Gly780=)
c.-601G= (n.-601G=)
5g.177211794G>TCA362324294NSD1c.2522G>T (p.Gly841Val)
n.612+7502G>T
n.2978G>T
c.3086G>T (p.Gly1029Val)
n.2792G>T
c.3395G>T (p.Gly1132Val)
n.3542G>T
c.2588G>T (p.Gly863Val)
c.2975G>T (p.Gly992Val)
c.2339G>T (p.Gly780Val)
c.-601G>T (n.-601G>T)
dbSNP gnomAD v2 gnomAD v4
5g.177211795A=CA1603478933NSD1c.2523A= (p.Gly841=)
n.612+7503A=
n.2979A=
c.3087A= (p.Gly1029=)
n.2793A=
c.3396A= (p.Gly1132=)
n.3543A=
c.2589A= (p.Gly863=)
c.2976A= (p.Gly992=)
c.2340A= (p.Gly780=)
c.-600A= (n.-600A=)
5g.177211795A>CCA447961109NSD1c.2523A>C (p.Gly841=)
n.612+7503A>C
n.2979A>C
c.3087A>C (p.Gly1029=)
n.2793A>C
c.3396A>C (p.Gly1132=)
n.3543A>C
c.2589A>C (p.Gly863=)
c.2976A>C (p.Gly992=)
c.2340A>C (p.Gly780=)
c.-600A>C (n.-600A>C)
5g.177211795A>GCA3577428NSD1c.2523A>G (p.Gly841=)
n.612+7503A>G
n.2979A>G
c.3087A>G (p.Gly1029=)
n.2793A>G
c.3396A>G (p.Gly1132=)
n.3543A>G
c.2589A>G (p.Gly863=)
c.2976A>G (p.Gly992=)
c.2340A>G (p.Gly780=)
c.-600A>G (n.-600A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211795A>TCA447961110NSD1c.2523A>T (p.Gly841=)
n.612+7503A>T
n.2979A>T
c.3087A>T (p.Gly1029=)
n.2793A>T
c.3396A>T (p.Gly1132=)
n.3543A>T
c.2589A>T (p.Gly863=)
c.2976A>T (p.Gly992=)
c.2340A>T (p.Gly780=)
c.-600A>T (n.-600A>T)
5g.177211798delCA2711102900NSD1c.2526del (p.Gly843AlafsTer7)
n.612+7506del
n.2982del
c.3090del (p.Gly1031AlafsTer7)
n.2796del
c.3399del (p.Gly1134AlafsTer7)
n.3546del
c.2592del (p.Gly865AlafsTer7)
c.2979del (p.Gly994AlafsTer7)
c.2343del (p.Gly782AlafsTer7)
c.-597del (n.-597del)
dbSNP
5g.177211796A=CA1603478939NSD1c.2524A= (p.Lys842=)
n.612+7504A=
n.2980A=
c.3088A= (p.Lys1030=)
n.2794A=
c.3397A= (p.Lys1133=)
n.3544A=
c.2590A= (p.Lys864=)
c.2977A= (p.Lys993=)
c.2341A= (p.Lys781=)
c.-599A= (n.-599A=)
5g.177211796A>CCA362324301NSD1c.2524A>C (p.Lys842Gln)
n.612+7504A>C
n.2980A>C
c.3088A>C (p.Lys1030Gln)
n.2794A>C
c.3397A>C (p.Lys1133Gln)
n.3544A>C
c.2590A>C (p.Lys864Gln)
c.2977A>C (p.Lys993Gln)
c.2341A>C (p.Lys781Gln)
c.-599A>C (n.-599A>C)
5g.177211796A>GCA10624121NSD1c.2524A>G (p.Lys842Glu)
n.612+7504A>G
n.2980A>G
c.3088A>G (p.Lys1030Glu)
n.2794A>G
c.3397A>G (p.Lys1133Glu)
n.3544A>G
c.2590A>G (p.Lys864Glu)
c.2977A>G (p.Lys993Glu)
c.2341A>G (p.Lys781Glu)
c.-599A>G (n.-599A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177211796A>TCA362324313NSD1c.2524A>T (p.Lys842Ter)
n.612+7504A>T
n.2980A>T
c.3088A>T (p.Lys1030Ter)
n.2794A>T
c.3397A>T (p.Lys1133Ter)
n.3544A>T
c.2590A>T (p.Lys864Ter)
c.2977A>T (p.Lys993Ter)
c.2341A>T (p.Lys781Ter)
c.-599A>T (n.-599A>T)
5g.177211797A>CCA362324319NSD1c.2525A>C (p.Lys842Thr)
n.612+7505A>C
n.2981A>C
c.3089A>C (p.Lys1030Thr)
n.2795A>C
c.3398A>C (p.Lys1133Thr)
n.3545A>C
c.2591A>C (p.Lys864Thr)
c.2978A>C (p.Lys993Thr)
c.2342A>C (p.Lys781Thr)
c.-598A>C (n.-598A>C)
5g.177211797A>GCA362324320NSD1c.2525A>G (p.Lys842Arg)
n.612+7505A>G
n.2981A>G
c.3089A>G (p.Lys1030Arg)
n.2795A>G
c.3398A>G (p.Lys1133Arg)
n.3545A>G
c.2591A>G (p.Lys864Arg)
c.2978A>G (p.Lys993Arg)
c.2342A>G (p.Lys781Arg)
c.-598A>G (n.-598A>G)
5g.177211797A>TCA362324322NSD1c.2525A>T (p.Lys842Ile)
n.612+7505A>T
n.2981A>T
c.3089A>T (p.Lys1030Ile)
n.2795A>T
c.3398A>T (p.Lys1133Ile)
n.3545A>T
c.2591A>T (p.Lys864Ile)
c.2978A>T (p.Lys993Ile)
c.2342A>T (p.Lys781Ile)
c.-598A>T (n.-598A>T)
5g.177211798A>CCA362324329NSD1c.2526A>C (p.Lys842Asn)
n.612+7506A>C
n.2982A>C
c.3090A>C (p.Lys1030Asn)
n.2796A>C
c.3399A>C (p.Lys1133Asn)
n.3546A>C
c.2592A>C (p.Lys864Asn)
c.2979A>C (p.Lys993Asn)
c.2343A>C (p.Lys781Asn)
c.-597A>C (n.-597A>C)
5g.177211798A>GCA447961113NSD1c.2526A>G (p.Lys842=)
n.612+7506A>G
n.2982A>G
c.3090A>G (p.Lys1030=)
n.2796A>G
c.3399A>G (p.Lys1133=)
n.3546A>G
c.2592A>G (p.Lys864=)
c.2979A>G (p.Lys993=)
c.2343A>G (p.Lys781=)
c.-597A>G (n.-597A>G)
dbSNP
5g.177211798A>TCA362324325NSD1c.2526A>T (p.Lys842Asn)
n.612+7506A>T
n.2982A>T
c.3090A>T (p.Lys1030Asn)
n.2796A>T
c.3399A>T (p.Lys1133Asn)
n.3546A>T
c.2592A>T (p.Lys864Asn)
c.2979A>T (p.Lys993Asn)
c.2343A>T (p.Lys781Asn)
c.-597A>T (n.-597A>T)
5g.177211799G>ACA362324333NSD1c.2527G>A (p.Gly843Ser)
n.612+7507G>A
n.2983G>A
c.3091G>A (p.Gly1031Ser)
n.2797G>A
c.3400G>A (p.Gly1134Ser)
n.3547G>A
c.2593G>A (p.Gly865Ser)
c.2980G>A (p.Gly994Ser)
c.2344G>A (p.Gly782Ser)
c.-596G>A (n.-596G>A)
gnomAD v4
5g.177211799G>CCA362324339NSD1c.2527G>C (p.Gly843Arg)
n.612+7507G>C
n.2983G>C
c.3091G>C (p.Gly1031Arg)
n.2797G>C
c.3400G>C (p.Gly1134Arg)
n.3547G>C
c.2593G>C (p.Gly865Arg)
c.2980G>C (p.Gly994Arg)
c.2344G>C (p.Gly782Arg)
c.-596G>C (n.-596G>C)
dbSNP
5g.177211799G=CA1603478950NSD1c.2527G= (p.Gly843=)
n.612+7507G=
n.2983G=
c.3091G= (p.Gly1031=)
n.2797G=
c.3400G= (p.Gly1134=)
n.3547G=
c.2593G= (p.Gly865=)
c.2980G= (p.Gly994=)
c.2344G= (p.Gly782=)
c.-596G= (n.-596G=)
5g.177211799G>TCA362324336NSD1c.2527G>T (p.Gly843Cys)
n.612+7507G>T
n.2983G>T
c.3091G>T (p.Gly1031Cys)
n.2797G>T
c.3400G>T (p.Gly1134Cys)
n.3547G>T
c.2593G>T (p.Gly865Cys)
c.2980G>T (p.Gly994Cys)
c.2344G>T (p.Gly782Cys)
c.-596G>T (n.-596G>T)
5g.177211800G>ACA362324345NSD1c.2528G>A (p.Gly843Asp)
n.612+7508G>A
n.2984G>A
c.3092G>A (p.Gly1031Asp)
n.2798G>A
c.3401G>A (p.Gly1134Asp)
n.3548G>A
c.2594G>A (p.Gly865Asp)
c.2981G>A (p.Gly994Asp)
c.2345G>A (p.Gly782Asp)
c.-595G>A (n.-595G>A)
5g.177211800G>CCA362324349NSD1c.2528G>C (p.Gly843Ala)
n.612+7508G>C
n.2984G>C
c.3092G>C (p.Gly1031Ala)
n.2798G>C
c.3401G>C (p.Gly1134Ala)
n.3548G>C
c.2594G>C (p.Gly865Ala)
c.2981G>C (p.Gly994Ala)
c.2345G>C (p.Gly782Ala)
c.-595G>C (n.-595G>C)
5g.177211800G>TCA362324346NSD1c.2528G>T (p.Gly843Val)
n.612+7508G>T
n.2984G>T
c.3092G>T (p.Gly1031Val)
n.2798G>T
c.3401G>T (p.Gly1134Val)
n.3548G>T
c.2594G>T (p.Gly865Val)
c.2981G>T (p.Gly994Val)
c.2345G>T (p.Gly782Val)
c.-595G>T (n.-595G>T)
5g.177211801C>ACA447961117NSD1c.2529C>A (p.Gly843=)
n.612+7509C>A
n.2985C>A
c.3093C>A (p.Gly1031=)
n.2799C>A
c.3402C>A (p.Gly1134=)
n.3549C>A
c.2595C>A (p.Gly865=)
c.2982C>A (p.Gly994=)
c.2346C>A (p.Gly782=)
c.-594C>A (n.-594C>A)
5g.177211801C>GCA447961116NSD1c.2529C>G (p.Gly843=)
n.612+7509C>G
n.2985C>G
c.3093C>G (p.Gly1031=)
n.2799C>G
c.3402C>G (p.Gly1134=)
n.3549C>G
c.2595C>G (p.Gly865=)
c.2982C>G (p.Gly994=)
c.2346C>G (p.Gly782=)
c.-594C>G (n.-594C>G)
5g.177211801C>TCA447961115NSD1c.2529C>T (p.Gly843=)
n.612+7509C>T
n.2985C>T
c.3093C>T (p.Gly1031=)
n.2799C>T
c.3402C>T (p.Gly1134=)
n.3549C>T
c.2595C>T (p.Gly865=)
c.2982C>T (p.Gly994=)
c.2346C>T (p.Gly782=)
c.-594C>T (n.-594C>T)
dbSNP gnomAD v4
5g.177211803delCA2695202837NSD1c.2531del (p.Pro844GlnfsTer6)
n.612+7511del
n.2987del
c.3095del (p.Pro1032GlnfsTer6)
n.2801del
c.3404del (p.Pro1135GlnfsTer6)
n.3551del
c.2597del (p.Pro866GlnfsTer6)
c.2984del (p.Pro995GlnfsTer6)
c.2348del (p.Pro783GlnfsTer6)
c.-592del (n.-592del)
5g.177211802C>ACA362324353NSD1c.2530C>A (p.Pro844Thr)
n.612+7510C>A
n.2986C>A
c.3094C>A (p.Pro1032Thr)
n.2800C>A
c.3403C>A (p.Pro1135Thr)
n.3550C>A
c.2596C>A (p.Pro866Thr)
c.2983C>A (p.Pro995Thr)
c.2347C>A (p.Pro783Thr)
c.-593C>A (n.-593C>A)
gnomAD v4
5g.177211802C=CA1603478955NSD1c.2530C= (p.Pro844=)
n.612+7510C=
n.2986C=
c.3094C= (p.Pro1032=)
n.2800C=
c.3403C= (p.Pro1135=)
n.3550C=
c.2596C= (p.Pro866=)
c.2983C= (p.Pro995=)
c.2347C= (p.Pro783=)
c.-593C= (n.-593C=)
5g.177211802C>GCA3577429NSD1c.2530C>G (p.Pro844Ala)
n.612+7510C>G
n.2986C>G
c.3094C>G (p.Pro1032Ala)
n.2800C>G
c.3403C>G (p.Pro1135Ala)
n.3550C>G
c.2596C>G (p.Pro866Ala)
c.2983C>G (p.Pro995Ala)
c.2347C>G (p.Pro783Ala)
c.-593C>G (n.-593C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211802C>TCA362324358NSD1c.2530C>T (p.Pro844Ser)
n.612+7510C>T
n.2986C>T
c.3094C>T (p.Pro1032Ser)
n.2800C>T
c.3403C>T (p.Pro1135Ser)
n.3550C>T
c.2596C>T (p.Pro866Ser)
c.2983C>T (p.Pro995Ser)
c.2347C>T (p.Pro783Ser)
c.-593C>T (n.-593C>T)
gnomAD v4
5g.177211803C>ACA362324362NSD1c.2531C>A (p.Pro844Gln)
n.612+7511C>A
n.2987C>A
c.3095C>A (p.Pro1032Gln)
n.2801C>A
c.3404C>A (p.Pro1135Gln)
n.3551C>A
c.2597C>A (p.Pro866Gln)
c.2984C>A (p.Pro995Gln)
c.2348C>A (p.Pro783Gln)
c.-592C>A (n.-592C>A)
5g.177211803C=CA1603479001NSD1c.2531C= (p.Pro844=)
n.612+7511C=
n.2987C=
c.3095C= (p.Pro1032=)
n.2801C=
c.3404C= (p.Pro1135=)
n.3551C=
c.2597C= (p.Pro866=)
c.2984C= (p.Pro995=)
c.2348C= (p.Pro783=)
c.-592C= (n.-592C=)
5g.177211803C>GCA362324365NSD1c.2531C>G (p.Pro844Arg)
n.612+7511C>G
n.2987C>G
c.3095C>G (p.Pro1032Arg)
n.2801C>G
c.3404C>G (p.Pro1135Arg)
n.3551C>G
c.2597C>G (p.Pro866Arg)
c.2984C>G (p.Pro995Arg)
c.2348C>G (p.Pro783Arg)
c.-592C>G (n.-592C>G)
5g.177211803C>TCA132831436NSD1c.2531C>T (p.Pro844Leu)
n.612+7511C>T
n.2987C>T
c.3095C>T (p.Pro1032Leu)
n.2801C>T
c.3404C>T (p.Pro1135Leu)
n.3551C>T
c.2597C>T (p.Pro866Leu)
c.2984C>T (p.Pro995Leu)
c.2348C>T (p.Pro783Leu)
c.-592C>T (n.-592C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.177211804A>CCA447961119NSD1c.2532A>C (p.Pro844=)
n.612+7512A>C
n.2988A>C
c.3096A>C (p.Pro1032=)
n.2802A>C
c.3405A>C (p.Pro1135=)
n.3552A>C
c.2598A>C (p.Pro866=)
c.2985A>C (p.Pro995=)
c.2349A>C (p.Pro783=)
c.-591A>C (n.-591A>C)
5g.177211804A>GCA447961120NSD1c.2532A>G (p.Pro844=)
n.612+7512A>G
n.2988A>G
c.3096A>G (p.Pro1032=)
n.2802A>G
c.3405A>G (p.Pro1135=)
n.3552A>G
c.2598A>G (p.Pro866=)
c.2985A>G (p.Pro995=)
c.2349A>G (p.Pro783=)
c.-591A>G (n.-591A>G)
gnomAD v4
5g.177211804A>TCA447961121NSD1c.2532A>T (p.Pro844=)
n.612+7512A>T
n.2988A>T
c.3096A>T (p.Pro1032=)
n.2802A>T
c.3405A>T (p.Pro1135=)
n.3552A>T
c.2598A>T (p.Pro866=)
c.2985A>T (p.Pro995=)
c.2349A>T (p.Pro783=)
c.-591A>T (n.-591A>T)
5g.177211805G>ACA362324371NSD1c.2533G>A (p.Glu845Lys)
n.612+7513G>A
n.2989G>A
c.3097G>A (p.Glu1033Lys)
n.2803G>A
c.3406G>A (p.Glu1136Lys)
n.3553G>A
c.2599G>A (p.Glu867Lys)
c.2986G>A (p.Glu996Lys)
c.2350G>A (p.Glu784Lys)
c.-590G>A (n.-590G>A)
COSMIC COSMIC
5g.177211805G>CCA362324374NSD1c.2533G>C (p.Glu845Gln)
n.612+7513G>C
n.2989G>C
c.3097G>C (p.Glu1033Gln)
n.2803G>C
c.3406G>C (p.Glu1136Gln)
n.3553G>C
c.2599G>C (p.Glu867Gln)
c.2986G>C (p.Glu996Gln)
c.2350G>C (p.Glu784Gln)
c.-590G>C (n.-590G>C)
dbSNP
5g.177211805G=CA1603479002NSD1c.2533G= (p.Glu845=)
n.612+7513G=
n.2989G=
c.3097G= (p.Glu1033=)
n.2803G=
c.3406G= (p.Glu1136=)
n.3553G=
c.2599G= (p.Glu867=)
c.2986G= (p.Glu996=)
c.2350G= (p.Glu784=)
c.-590G= (n.-590G=)
5g.177211805G>TCA362324378NSD1c.2533G>T (p.Glu845Ter)
n.612+7513G>T
n.2989G>T
c.3097G>T (p.Glu1033Ter)
n.2803G>T
c.3406G>T (p.Glu1136Ter)
n.3553G>T
c.2599G>T (p.Glu867Ter)
c.2986G>T (p.Glu996Ter)
c.2350G>T (p.Glu784Ter)
c.-590G>T (n.-590G>T)
5g.177211806A=CA1603479006NSD1c.2534A= (p.Glu845=)
n.612+7514A=
n.2990A=
c.3098A= (p.Glu1033=)
n.2804A=
c.3407A= (p.Glu1136=)
n.3554A=
c.2600A= (p.Glu867=)
c.2987A= (p.Glu996=)
c.2351A= (p.Glu784=)
c.-589A= (n.-589A=)
5g.177211806A>CCA362324383NSD1c.2534A>C (p.Glu845Ala)
n.612+7514A>C
n.2990A>C
c.3098A>C (p.Glu1033Ala)
n.2804A>C
c.3407A>C (p.Glu1136Ala)
n.3554A>C
c.2600A>C (p.Glu867Ala)
c.2987A>C (p.Glu996Ala)
c.2351A>C (p.Glu784Ala)
c.-589A>C (n.-589A>C)
5g.177211806A>GCA362324385NSD1c.2534A>G (p.Glu845Gly)
n.612+7514A>G
n.2990A>G
c.3098A>G (p.Glu1033Gly)
n.2804A>G
c.3407A>G (p.Glu1136Gly)
n.3554A>G
c.2600A>G (p.Glu867Gly)
c.2987A>G (p.Glu996Gly)
c.2351A>G (p.Glu784Gly)
c.-589A>G (n.-589A>G)
dbSNP gnomAD v4
5g.177211806A>TCA362324389NSD1c.2534A>T (p.Glu845Val)
n.612+7514A>T
n.2990A>T
c.3098A>T (p.Glu1033Val)
n.2804A>T
c.3407A>T (p.Glu1136Val)
n.3554A>T
c.2600A>T (p.Glu867Val)
c.2987A>T (p.Glu996Val)
c.2351A>T (p.Glu784Val)
c.-589A>T (n.-589A>T)
5g.177211807G>ACA447961126NSD1c.2535G>A (p.Glu845=)
n.612+7515G>A
n.2991G>A
c.3099G>A (p.Glu1033=)
n.2805G>A
c.3408G>A (p.Glu1136=)
n.3555G>A
c.2601G>A (p.Glu867=)
c.2988G>A (p.Glu996=)
c.2352G>A (p.Glu784=)
c.-588G>A (n.-588G>A)
gnomAD v4
5g.177211807G>CCA362324396NSD1c.2535G>C (p.Glu845Asp)
n.612+7515G>C
n.2991G>C
c.3099G>C (p.Glu1033Asp)
n.2805G>C
c.3408G>C (p.Glu1136Asp)
n.3555G>C
c.2601G>C (p.Glu867Asp)
c.2988G>C (p.Glu996Asp)
c.2352G>C (p.Glu784Asp)
c.-588G>C (n.-588G>C)
5g.177211807G>TCA362324393NSD1c.2535G>T (p.Glu845Asp)
n.612+7515G>T
n.2991G>T
c.3099G>T (p.Glu1033Asp)
n.2805G>T
c.3408G>T (p.Glu1136Asp)
n.3555G>T
c.2601G>T (p.Glu867Asp)
c.2988G>T (p.Glu996Asp)
c.2352G>T (p.Glu784Asp)
c.-588G>T (n.-588G>T)
5g.177211808C>ACA3577431NSD1c.2536C>A (p.Leu846Met)
n.612+7516C>A
n.2992C>A
c.3100C>A (p.Leu1034Met)
n.2806C>A
c.3409C>A (p.Leu1137Met)
n.3556C>A
c.2602C>A (p.Leu868Met)
c.2989C>A (p.Leu997Met)
c.2353C>A (p.Leu785Met)
c.-587C>A (n.-587C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211808C=CA1603479008NSD1c.2536C= (p.Leu846=)
n.612+7516C=
n.2992C=
c.3100C= (p.Leu1034=)
n.2806C=
c.3409C= (p.Leu1137=)
n.3556C=
c.2602C= (p.Leu868=)
c.2989C= (p.Leu997=)
c.2353C= (p.Leu785=)
c.-587C= (n.-587C=)
5g.177211808C>GCA362324403NSD1c.2536C>G (p.Leu846Val)
n.612+7516C>G
n.2992C>G
c.3100C>G (p.Leu1034Val)
n.2806C>G
c.3409C>G (p.Leu1137Val)
n.3556C>G
c.2602C>G (p.Leu868Val)
c.2989C>G (p.Leu997Val)
c.2353C>G (p.Leu785Val)
c.-587C>G (n.-587C>G)
dbSNP
5g.177211808C>TCA3577430NSD1c.2536C>T (p.Leu846=)
n.612+7516C>T
n.2992C>T
c.3100C>T (p.Leu1034=)
n.2806C>T
c.3409C>T (p.Leu1137=)
n.3556C>T
c.2602C>T (p.Leu868=)
c.2989C>T (p.Leu997=)
c.2353C>T (p.Leu785=)
c.-587C>T (n.-587C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211809delCA2676687587NSD1c.2537del (p.Leu846ArgfsTer4)
n.612+7517del
n.2993del
c.3101del (p.Leu1034ArgfsTer4)
n.2807del
c.3410del (p.Leu1137ArgfsTer4)
n.3557del
c.2603del (p.Leu868ArgfsTer4)
c.2990del (p.Leu997ArgfsTer4)
c.2354del (p.Leu785ArgfsTer4)
c.-586del (n.-586del)
gnomAD v4
5g.177211809T>ACA362324411NSD1c.2537T>A (p.Leu846Gln)
n.612+7517T>A
n.2993T>A
c.3101T>A (p.Leu1034Gln)
n.2807T>A
c.3410T>A (p.Leu1137Gln)
n.3557T>A
c.2603T>A (p.Leu868Gln)
c.2990T>A (p.Leu997Gln)
c.2354T>A (p.Leu785Gln)
c.-586T>A (n.-586T>A)
5g.177211809T>CCA362324415NSD1c.2537T>C (p.Leu846Pro)
n.612+7517T>C
n.2993T>C
c.3101T>C (p.Leu1034Pro)
n.2807T>C
c.3410T>C (p.Leu1137Pro)
n.3557T>C
c.2603T>C (p.Leu868Pro)
c.2990T>C (p.Leu997Pro)
c.2354T>C (p.Leu785Pro)
c.-586T>C (n.-586T>C)
dbSNP gnomAD v2 gnomAD v4
5g.177211809T>GCA362324418NSD1c.2537T>G (p.Leu846Arg)
n.612+7517T>G
n.2993T>G
c.3101T>G (p.Leu1034Arg)
n.2807T>G
c.3410T>G (p.Leu1137Arg)
n.3557T>G
c.2603T>G (p.Leu868Arg)
c.2990T>G (p.Leu997Arg)
c.2354T>G (p.Leu785Arg)
c.-586T>G (n.-586T>G)
5g.177211809T=CA1603479011NSD1c.2537T= (p.Leu846=)
n.612+7517T=
n.2993T=
c.3101T= (p.Leu1034=)
n.2807T=
c.3410T= (p.Leu1137=)
n.3557T=
c.2603T= (p.Leu868=)
c.2990T= (p.Leu997=)
c.2354T= (p.Leu785=)
c.-586T= (n.-586T=)
5g.177211810G>ACA447961131NSD1c.2538G>A (p.Leu846=)
n.612+7518G>A
n.2994G>A
c.3102G>A (p.Leu1034=)
n.2808G>A
c.3411G>A (p.Leu1137=)
n.3558G>A
c.2604G>A (p.Leu868=)
c.2991G>A (p.Leu997=)
c.2355G>A (p.Leu785=)
c.-585G>A (n.-585G>A)
gnomAD v4
5g.177211810G>CCA447961132NSD1c.2538G>C (p.Leu846=)
n.612+7518G>C
n.2994G>C
c.3102G>C (p.Leu1034=)
n.2808G>C
c.3411G>C (p.Leu1137=)
n.3558G>C
c.2604G>C (p.Leu868=)
c.2991G>C (p.Leu997=)
c.2355G>C (p.Leu785=)
c.-585G>C (n.-585G>C)
5g.177211810G>TCA447961133NSD1c.2538G>T (p.Leu846=)
n.612+7518G>T
n.2994G>T
c.3102G>T (p.Leu1034=)
n.2808G>T
c.3411G>T (p.Leu1137=)
n.3558G>T
c.2604G>T (p.Leu868=)
c.2991G>T (p.Leu997=)
c.2355G>T (p.Leu785=)
c.-585G>T (n.-585G>T)
5g.177211811G>ACA3577432NSD1c.2539G>A (p.Asp847Asn)
n.612+7519G>A
n.2995G>A
c.3103G>A (p.Asp1035Asn)
n.2809G>A
c.3412G>A (p.Asp1138Asn)
n.3559G>A
c.2605G>A (p.Asp869Asn)
c.2992G>A (p.Asp998Asn)
c.2356G>A (p.Asp786Asn)
c.-584G>A (n.-584G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211811G>CCA362324423NSD1c.2539G>C (p.Asp847His)
n.612+7519G>C
n.2995G>C
c.3103G>C (p.Asp1035His)
n.2809G>C
c.3412G>C (p.Asp1138His)
n.3559G>C
c.2605G>C (p.Asp869His)
c.2992G>C (p.Asp998His)
c.2356G>C (p.Asp786His)
c.-584G>C (n.-584G>C)
dbSNP gnomAD v2 gnomAD v4
5g.177211811G=CA1603479024NSD1c.2539G= (p.Asp847=)
n.612+7519G=
n.2995G=
c.3103G= (p.Asp1035=)
n.2809G=
c.3412G= (p.Asp1138=)
n.3559G=
c.2605G= (p.Asp869=)
c.2992G= (p.Asp998=)
c.2356G= (p.Asp786=)
c.-584G= (n.-584G=)
5g.177211811G>TCA362324426NSD1c.2539G>T (p.Asp847Tyr)
n.612+7519G>T
n.2995G>T
c.3103G>T (p.Asp1035Tyr)
n.2809G>T
c.3412G>T (p.Asp1138Tyr)
n.3559G>T
c.2605G>T (p.Asp869Tyr)
c.2992G>T (p.Asp998Tyr)
c.2356G>T (p.Asp786Tyr)
c.-584G>T (n.-584G>T)
dbSNP gnomAD v2 gnomAD v4
5g.177211812A>CCA362324430NSD1c.2540A>C (p.Asp847Ala)
n.612+7520A>C
n.2996A>C
c.3104A>C (p.Asp1035Ala)
n.2810A>C
c.3413A>C (p.Asp1138Ala)
n.3560A>C
c.2606A>C (p.Asp869Ala)
c.2993A>C (p.Asp998Ala)
c.2357A>C (p.Asp786Ala)
c.-583A>C (n.-583A>C)
5g.177211812A>GCA362324433NSD1c.2540A>G (p.Asp847Gly)
n.612+7520A>G
n.2996A>G
c.3104A>G (p.Asp1035Gly)
n.2810A>G
c.3413A>G (p.Asp1138Gly)
n.3560A>G
c.2606A>G (p.Asp869Gly)
c.2993A>G (p.Asp998Gly)
c.2357A>G (p.Asp786Gly)
c.-583A>G (n.-583A>G)
5g.177211812A>TCA362324435NSD1c.2540A>T (p.Asp847Val)
n.612+7520A>T
n.2996A>T
c.3104A>T (p.Asp1035Val)
n.2810A>T
c.3413A>T (p.Asp1138Val)
n.3560A>T
c.2606A>T (p.Asp869Val)
c.2993A>T (p.Asp998Val)
c.2357A>T (p.Asp786Val)
c.-583A>T (n.-583A>T)
5g.177211813C>ACA362324440NSD1c.2541C>A (p.Asp847Glu)
n.612+7521C>A
n.2997C>A
c.3105C>A (p.Asp1035Glu)
n.2811C>A
c.3414C>A (p.Asp1138Glu)
n.3561C>A
c.2607C>A (p.Asp869Glu)
c.2994C>A (p.Asp998Glu)
c.2358C>A (p.Asp786Glu)
c.-582C>A (n.-582C>A)
5g.177211813C>GCA362324441NSD1c.2541C>G (p.Asp847Glu)
n.612+7521C>G
n.2997C>G
c.3105C>G (p.Asp1035Glu)
n.2811C>G
c.3414C>G (p.Asp1138Glu)
n.3561C>G
c.2607C>G (p.Asp869Glu)
c.2994C>G (p.Asp998Glu)
c.2358C>G (p.Asp786Glu)
c.-582C>G (n.-582C>G)
5g.177211813C>TCA447961138NSD1c.2541C>T (p.Asp847=)
n.612+7521C>T
n.2997C>T
c.3105C>T (p.Asp1035=)
n.2811C>T
c.3414C>T (p.Asp1138=)
n.3561C>T
c.2607C>T (p.Asp869=)
c.2994C>T (p.Asp998=)
c.2358C>T (p.Asp786=)
c.-582C>T (n.-582C>T)
5g.177211814T>ACA362324445NSD1c.2542T>A (p.Ser848Thr)
n.612+7522T>A
n.2998T>A
c.3106T>A (p.Ser1036Thr)
n.2812T>A
c.3415T>A (p.Ser1139Thr)
n.3562T>A
c.2608T>A (p.Ser870Thr)
c.2995T>A (p.Ser999Thr)
c.2359T>A (p.Ser787Thr)
c.-581T>A (n.-581T>A)
5g.177211814T>CCA362324448NSD1c.2542T>C (p.Ser848Pro)
n.612+7522T>C
n.2998T>C
c.3106T>C (p.Ser1036Pro)
n.2812T>C
c.3415T>C (p.Ser1139Pro)
n.3562T>C
c.2608T>C (p.Ser870Pro)
c.2995T>C (p.Ser999Pro)
c.2359T>C (p.Ser787Pro)
c.-581T>C (n.-581T>C)
5g.177211814T>GCA362324451NSD1c.2542T>G (p.Ser848Ala)
n.612+7522T>G
n.2998T>G
c.3106T>G (p.Ser1036Ala)
n.2812T>G
c.3415T>G (p.Ser1139Ala)
n.3562T>G
c.2608T>G (p.Ser870Ala)
c.2995T>G (p.Ser999Ala)
c.2359T>G (p.Ser787Ala)
c.-581T>G (n.-581T>G)
5g.177211815C>ACA362324456NSD1c.2543C>A (p.Ser848Tyr)
n.612+7523C>A
n.2999C>A
c.3107C>A (p.Ser1036Tyr)
n.2813C>A
c.3416C>A (p.Ser1139Tyr)
n.3563C>A
c.2609C>A (p.Ser870Tyr)
c.2996C>A (p.Ser999Tyr)
c.2360C>A (p.Ser787Tyr)
c.-580C>A (n.-580C>A)
5g.177211815C>GCA362324458NSD1c.2543C>G (p.Ser848Cys)
n.612+7523C>G
n.2999C>G
c.3107C>G (p.Ser1036Cys)
n.2813C>G
c.3416C>G (p.Ser1139Cys)
n.3563C>G
c.2609C>G (p.Ser870Cys)
c.2996C>G (p.Ser999Cys)
c.2360C>G (p.Ser787Cys)
c.-580C>G (n.-580C>G)
dbSNP
5g.177211815C>TCA362324461NSD1c.2543C>T (p.Ser848Phe)
n.612+7523C>T
n.2999C>T
c.3107C>T (p.Ser1036Phe)
n.2813C>T
c.3416C>T (p.Ser1139Phe)
n.3563C>T
c.2609C>T (p.Ser870Phe)
c.2996C>T (p.Ser999Phe)
c.2360C>T (p.Ser787Phe)
c.-580C>T (n.-580C>T)
5g.177211815_177211817delinsCTGCA1603479033NSD1c.2543_2545delinsCTG (p.Ser848=)
n.612+7523_612+7525delinsCTG
n.2999_3001delinsCTG
c.3107_3109delinsCTG (p.Ser1036=)
n.2813_2815delinsCTG
c.3416_3418delinsCTG (p.Ser1139=)
n.3563_3565delinsCTG
c.2609_2611delinsCTG (p.Ser870=)
c.2996_2998delinsCTG (p.Ser999=)
c.2360_2362delinsCTG (p.Ser787=)
c.-580_-578delinsCTG (n.-580_-578delinsCTG)
5g.177211816T>ACA447961139NSD1c.2544T>A (p.Ser848=)
n.612+7524T>A
n.3000T>A
c.3108T>A (p.Ser1036=)
n.2814T>A
c.3417T>A (p.Ser1139=)
n.3564T>A
c.2610T>A (p.Ser870=)
c.2997T>A (p.Ser999=)
c.2361T>A (p.Ser787=)
c.-579T>A (n.-579T>A)
COSMIC COSMIC
5g.177211816T>CCA447961140NSD1c.2544T>C (p.Ser848=)
n.612+7524T>C
n.3000T>C
c.3108T>C (p.Ser1036=)
n.2814T>C
c.3417T>C (p.Ser1139=)
n.3564T>C
c.2610T>C (p.Ser870=)
c.2997T>C (p.Ser999=)
c.2361T>C (p.Ser787=)
c.-579T>C (n.-579T>C)
5g.177211816T>GCA447961141NSD1c.2544T>G (p.Ser848=)
n.612+7524T>G
n.3000T>G
c.3108T>G (p.Ser1036=)
n.2814T>G
c.3417T>G (p.Ser1139=)
n.3564T>G
c.2610T>G (p.Ser870=)
c.2997T>G (p.Ser999=)
c.2361T>G (p.Ser787=)
c.-579T>G (n.-579T>G)
5g.177211817_177211818delCA1139655898NSD1c.2545_2546del (p.Val849AsnfsTer4)
n.612+7525_612+7526del
n.3001_3002del
c.3109_3110del (p.Val1037AsnfsTer4)
n.2815_2816del
c.3418_3419del (p.Val1140AsnfsTer4)
n.3565_3566del
c.2611_2612del (p.Val871AsnfsTer4)
c.2998_2999del (p.Val1000AsnfsTer4)
c.2362_2363del (p.Val788AsnfsTer4)
c.-578_-577del (n.-578_-577del)
ClinVar dbSNP
5g.177211817G>ACA362324466NSD1c.2545G>A (p.Val849Ile)
n.612+7525G>A
n.3001G>A
c.3109G>A (p.Val1037Ile)
n.2815G>A
c.3418G>A (p.Val1140Ile)
n.3565G>A
c.2611G>A (p.Val871Ile)
c.2998G>A (p.Val1000Ile)
c.2362G>A (p.Val788Ile)
c.-578G>A (n.-578G>A)
ClinVar dbSNP gnomAD v4
5g.177211817G>CCA362324467NSD1c.2545G>C (p.Val849Leu)
n.612+7525G>C
n.3001G>C
c.3109G>C (p.Val1037Leu)
n.2815G>C
c.3418G>C (p.Val1140Leu)
n.3565G>C
c.2611G>C (p.Val871Leu)
c.2998G>C (p.Val1000Leu)
c.2362G>C (p.Val788Leu)
c.-578G>C (n.-578G>C)
gnomAD v4
5g.177211817G=CA1603479047NSD1c.2545G= (p.Val849=)
n.612+7525G=
n.3001G=
c.3109G= (p.Val1037=)
n.2815G=
c.3418G= (p.Val1140=)
n.3565G=
c.2611G= (p.Val871=)
c.2998G= (p.Val1000=)
c.2362G= (p.Val788=)
c.-578G= (n.-578G=)
5g.177211817G>TCA362324472NSD1c.2545G>T (p.Val849Leu)
n.612+7525G>T
n.3001G>T
c.3109G>T (p.Val1037Leu)
n.2815G>T
c.3418G>T (p.Val1140Leu)
n.3565G>T
c.2611G>T (p.Val871Leu)
c.2998G>T (p.Val1000Leu)
c.2362G>T (p.Val788Leu)
c.-578G>T (n.-578G>T)
5g.177211818T>ACA362324477NSD1c.2546T>A (p.Val849Glu)
n.612+7526T>A
n.3002T>A
c.3110T>A (p.Val1037Glu)
n.2816T>A
c.3419T>A (p.Val1140Glu)
n.3566T>A
c.2612T>A (p.Val871Glu)
c.2999T>A (p.Val1000Glu)
c.2363T>A (p.Val788Glu)
c.-577T>A (n.-577T>A)
5g.177211818T>CCA362324479NSD1c.2546T>C (p.Val849Ala)
n.612+7526T>C
n.3002T>C
c.3110T>C (p.Val1037Ala)
n.2816T>C
c.3419T>C (p.Val1140Ala)
n.3566T>C
c.2612T>C (p.Val871Ala)
c.2999T>C (p.Val1000Ala)
c.2363T>C (p.Val788Ala)
c.-577T>C (n.-577T>C)
5g.177211818T>GCA362324481NSD1c.2546T>G (p.Val849Gly)
n.612+7526T>G
n.3002T>G
c.3110T>G (p.Val1037Gly)
n.2816T>G
c.3419T>G (p.Val1140Gly)
n.3566T>G
c.2612T>G (p.Val871Gly)
c.2999T>G (p.Val1000Gly)
c.2363T>G (p.Val788Gly)
c.-577T>G (n.-577T>G)
dbSNP
5g.177211819A>CCA447961143NSD1c.2547A>C (p.Val849=)
n.612+7527A>C
n.3003A>C
c.3111A>C (p.Val1037=)
n.2817A>C
c.3420A>C (p.Val1140=)
n.3567A>C
c.2613A>C (p.Val871=)
c.3000A>C (p.Val1000=)
c.2364A>C (p.Val788=)
c.-576A>C (n.-576A>C)
5g.177211819A>GCA447961144NSD1c.2547A>G (p.Val849=)
n.612+7527A>G
n.3003A>G
c.3111A>G (p.Val1037=)
n.2817A>G
c.3420A>G (p.Val1140=)
n.3567A>G
c.2613A>G (p.Val871=)
c.3000A>G (p.Val1000=)
c.2364A>G (p.Val788=)
c.-576A>G (n.-576A>G)
5g.177211819A>TCA447961145NSD1c.2547A>T (p.Val849=)
n.612+7527A>T
n.3003A>T
c.3111A>T (p.Val1037=)
n.2817A>T
c.3420A>T (p.Val1140=)
n.3567A>T
c.2613A>T (p.Val871=)
c.3000A>T (p.Val1000=)
c.2364A>T (p.Val788=)
c.-576A>T (n.-576A>T)
5g.177211819_177211825delinsGAGCA2695202838NSD1c.2547_2553delinsGAG (p.Met850ArgfsTer10)
n.612+7527_612+7533delinsGAG
n.3003_3009delinsGAG
c.3111_3117delinsGAG (p.Met1038ArgfsTer10)
n.2817_2823delinsGAG
c.3420_3426delinsGAG (p.Met1141ArgfsTer10)
n.3567_3573delinsGAG
c.2613_2619delinsGAG (p.Met872ArgfsTer10)
c.3000_3006delinsGAG (p.Met1001ArgfsTer10)
c.2364_2370delinsGAG (p.Met789ArgfsTer10)
c.-576_-570delinsGAG (n.-576_-570delinsGAG)

Number of alleles fetched