Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177211618A=CA1603478425NSD1c.2346A= (p.Glu782=)
n.612+7326A=
n.2802A=
c.2910A= (p.Glu970=)
n.2616A=
c.3219A= (p.Glu1073=)
n.3366A=
c.2412A= (p.Glu804=)
c.2799A= (p.Glu933=)
c.2163A= (p.Glu721=)
c.-777A= (n.-777A=)
5g.177211618A>CCA362322889NSD1c.2346A>C (p.Glu782Asp)
n.612+7326A>C
n.2802A>C
c.2910A>C (p.Glu970Asp)
n.2616A>C
c.3219A>C (p.Glu1073Asp)
n.3366A>C
c.2412A>C (p.Glu804Asp)
c.2799A>C (p.Glu933Asp)
c.2163A>C (p.Glu721Asp)
c.-777A>C (n.-777A>C)
5g.177211618A>GCA3577398NSD1c.2346A>G (p.Glu782=)
n.612+7326A>G
n.2802A>G
c.2910A>G (p.Glu970=)
n.2616A>G
c.3219A>G (p.Glu1073=)
n.3366A>G
c.2412A>G (p.Glu804=)
c.2799A>G (p.Glu933=)
c.2163A>G (p.Glu721=)
c.-777A>G (n.-777A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211618A>TCA362322893NSD1c.2346A>T (p.Glu782Asp)
n.612+7326A>T
n.2802A>T
c.2910A>T (p.Glu970Asp)
n.2616A>T
c.3219A>T (p.Glu1073Asp)
n.3366A>T
c.2412A>T (p.Glu804Asp)
c.2799A>T (p.Glu933Asp)
c.2163A>T (p.Glu721Asp)
c.-777A>T (n.-777A>T)
5g.177211619C>ACA362322897NSD1c.2347C>A (p.Arg783Ser)
n.612+7327C>A
n.2803C>A
c.2911C>A (p.Arg971Ser)
n.2617C>A
c.3220C>A (p.Arg1074Ser)
n.3367C>A
c.2413C>A (p.Arg805Ser)
c.2800C>A (p.Arg934Ser)
c.2164C>A (p.Arg722Ser)
c.-776C>A (n.-776C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211619C=CA1603478430NSD1c.2347C= (p.Arg783=)
n.612+7327C=
n.2803C=
c.2911C= (p.Arg971=)
n.2617C=
c.3220C= (p.Arg1074=)
n.3367C=
c.2413C= (p.Arg805=)
c.2800C= (p.Arg934=)
c.2164C= (p.Arg722=)
c.-776C= (n.-776C=)
5g.177211619C>GCA362322900NSD1c.2347C>G (p.Arg783Gly)
n.612+7327C>G
n.2803C>G
c.2911C>G (p.Arg971Gly)
n.2617C>G
c.3220C>G (p.Arg1074Gly)
n.3367C>G
c.2413C>G (p.Arg805Gly)
c.2800C>G (p.Arg934Gly)
c.2164C>G (p.Arg722Gly)
c.-776C>G (n.-776C>G)
dbSNP
5g.177211619C>TCA3577399NSD1c.2347C>T (p.Arg783Cys)
n.612+7327C>T
n.2803C>T
c.2911C>T (p.Arg971Cys)
n.2617C>T
c.3220C>T (p.Arg1074Cys)
n.3367C>T
c.2413C>T (p.Arg805Cys)
c.2800C>T (p.Arg934Cys)
c.2164C>T (p.Arg722Cys)
c.-776C>T (n.-776C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211620G>ACA3577400NSD1c.2348G>A (p.Arg783His)
n.612+7328G>A
n.2804G>A
c.2912G>A (p.Arg971His)
n.2618G>A
c.3221G>A (p.Arg1074His)
n.3368G>A
c.2414G>A (p.Arg805His)
c.2801G>A (p.Arg934His)
c.2165G>A (p.Arg722His)
c.-775G>A (n.-775G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211620G>CCA362322906NSD1c.2348G>C (p.Arg783Pro)
n.612+7328G>C
n.2804G>C
c.2912G>C (p.Arg971Pro)
n.2618G>C
c.3221G>C (p.Arg1074Pro)
n.3368G>C
c.2414G>C (p.Arg805Pro)
c.2801G>C (p.Arg934Pro)
c.2165G>C (p.Arg722Pro)
c.-775G>C (n.-775G>C)
5g.177211620G=CA1603478437NSD1c.2348G= (p.Arg783=)
n.612+7328G=
n.2804G=
c.2912G= (p.Arg971=)
n.2618G=
c.3221G= (p.Arg1074=)
n.3368G=
c.2414G= (p.Arg805=)
c.2801G= (p.Arg934=)
c.2165G= (p.Arg722=)
c.-775G= (n.-775G=)
5g.177211620G>TCA362322908NSD1c.2348G>T (p.Arg783Leu)
n.612+7328G>T
n.2804G>T
c.2912G>T (p.Arg971Leu)
n.2618G>T
c.3221G>T (p.Arg1074Leu)
n.3368G>T
c.2414G>T (p.Arg805Leu)
c.2801G>T (p.Arg934Leu)
c.2165G>T (p.Arg722Leu)
c.-775G>T (n.-775G>T)
5g.177211621T>ACA447960891NSD1c.2349T>A (p.Arg783=)
n.612+7329T>A
n.2805T>A
c.2913T>A (p.Arg971=)
n.2619T>A
c.3222T>A (p.Arg1074=)
n.3369T>A
c.2415T>A (p.Arg805=)
c.2802T>A (p.Arg934=)
c.2166T>A (p.Arg722=)
c.-774T>A (n.-774T>A)
5g.177211621T>CCA447960892NSD1c.2349T>C (p.Arg783=)
n.612+7329T>C
n.2805T>C
c.2913T>C (p.Arg971=)
n.2619T>C
c.3222T>C (p.Arg1074=)
n.3369T>C
c.2415T>C (p.Arg805=)
c.2802T>C (p.Arg934=)
c.2166T>C (p.Arg722=)
c.-774T>C (n.-774T>C)
5g.177211621T>GCA447960893NSD1c.2349T>G (p.Arg783=)
n.612+7329T>G
n.2805T>G
c.2913T>G (p.Arg971=)
n.2619T>G
c.3222T>G (p.Arg1074=)
n.3369T>G
c.2415T>G (p.Arg805=)
c.2802T>G (p.Arg934=)
c.2166T>G (p.Arg722=)
c.-774T>G (n.-774T>G)
5g.177211622G>ACA362322909NSD1c.2350G>A (p.Gly784Arg)
n.612+7330G>A
n.2806G>A
c.2914G>A (p.Gly972Arg)
n.2620G>A
c.3223G>A (p.Gly1075Arg)
n.3370G>A
c.2416G>A (p.Gly806Arg)
c.2803G>A (p.Gly935Arg)
c.2167G>A (p.Gly723Arg)
c.-773G>A (n.-773G>A)
5g.177211622G>CCA362322910NSD1c.2350G>C (p.Gly784Arg)
n.612+7330G>C
n.2806G>C
c.2914G>C (p.Gly972Arg)
n.2620G>C
c.3223G>C (p.Gly1075Arg)
n.3370G>C
c.2416G>C (p.Gly806Arg)
c.2803G>C (p.Gly935Arg)
c.2167G>C (p.Gly723Arg)
c.-773G>C (n.-773G>C)
5g.177211622G>TCA362322911NSD1c.2350G>T (p.Gly784Ter)
n.612+7330G>T
n.2806G>T
c.2914G>T (p.Gly972Ter)
n.2620G>T
c.3223G>T (p.Gly1075Ter)
n.3370G>T
c.2416G>T (p.Gly806Ter)
c.2803G>T (p.Gly935Ter)
c.2167G>T (p.Gly723Ter)
c.-773G>T (n.-773G>T)
5g.177211623G>ACA362322919NSD1c.2351G>A (p.Gly784Glu)
n.612+7331G>A
n.2807G>A
c.2915G>A (p.Gly972Glu)
n.2621G>A
c.3224G>A (p.Gly1075Glu)
n.3371G>A
c.2417G>A (p.Gly806Glu)
c.2804G>A (p.Gly935Glu)
c.2168G>A (p.Gly723Glu)
c.-772G>A (n.-772G>A)
ClinVar dbSNP gnomAD v4
5g.177211623G>CCA362322913NSD1c.2351G>C (p.Gly784Ala)
n.612+7331G>C
n.2807G>C
c.2915G>C (p.Gly972Ala)
n.2621G>C
c.3224G>C (p.Gly1075Ala)
n.3371G>C
c.2417G>C (p.Gly806Ala)
c.2804G>C (p.Gly935Ala)
c.2168G>C (p.Gly723Ala)
c.-772G>C (n.-772G>C)
5g.177211623G=CA1603478449NSD1c.2351G= (p.Gly784=)
n.612+7331G=
n.2807G=
c.2915G= (p.Gly972=)
n.2621G=
c.3224G= (p.Gly1075=)
n.3371G=
c.2417G= (p.Gly806=)
c.2804G= (p.Gly935=)
c.2168G= (p.Gly723=)
c.-772G= (n.-772G=)
5g.177211623G>TCA362322915NSD1c.2351G>T (p.Gly784Val)
n.612+7331G>T
n.2807G>T
c.2915G>T (p.Gly972Val)
n.2621G>T
c.3224G>T (p.Gly1075Val)
n.3371G>T
c.2417G>T (p.Gly806Val)
c.2804G>T (p.Gly935Val)
c.2168G>T (p.Gly723Val)
c.-772G>T (n.-772G>T)
5g.177211624A>CCA447960896NSD1c.2352A>C (p.Gly784=)
n.612+7332A>C
n.2808A>C
c.2916A>C (p.Gly972=)
n.2622A>C
c.3225A>C (p.Gly1075=)
n.3372A>C
c.2418A>C (p.Gly806=)
c.2805A>C (p.Gly935=)
c.2169A>C (p.Gly723=)
c.-771A>C (n.-771A>C)
5g.177211624A>GCA447960898NSD1c.2352A>G (p.Gly784=)
n.612+7332A>G
n.2808A>G
c.2916A>G (p.Gly972=)
n.2622A>G
c.3225A>G (p.Gly1075=)
n.3372A>G
c.2418A>G (p.Gly806=)
c.2805A>G (p.Gly935=)
c.2169A>G (p.Gly723=)
c.-771A>G (n.-771A>G)
5g.177211624A>TCA447960899NSD1c.2352A>T (p.Gly784=)
n.612+7332A>T
n.2808A>T
c.2916A>T (p.Gly972=)
n.2622A>T
c.3225A>T (p.Gly1075=)
n.3372A>T
c.2418A>T (p.Gly806=)
c.2805A>T (p.Gly935=)
c.2169A>T (p.Gly723=)
c.-771A>T (n.-771A>T)
5g.177211625G>ACA3577401NSD1c.2353G>A (p.Gly785Ser)
n.612+7333G>A
n.2809G>A
c.2917G>A (p.Gly973Ser)
n.2623G>A
c.3226G>A (p.Gly1076Ser)
n.3373G>A
c.2419G>A (p.Gly807Ser)
c.2806G>A (p.Gly936Ser)
c.2170G>A (p.Gly724Ser)
c.-770G>A (n.-770G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211625G>CCA362322923NSD1c.2353G>C (p.Gly785Arg)
n.612+7333G>C
n.2809G>C
c.2917G>C (p.Gly973Arg)
n.2623G>C
c.3226G>C (p.Gly1076Arg)
n.3373G>C
c.2419G>C (p.Gly807Arg)
c.2806G>C (p.Gly936Arg)
c.2170G>C (p.Gly724Arg)
c.-770G>C (n.-770G>C)
5g.177211625G=CA1603478481NSD1c.2353G= (p.Gly785=)
n.612+7333G=
n.2809G=
c.2917G= (p.Gly973=)
n.2623G=
c.3226G= (p.Gly1076=)
n.3373G=
c.2419G= (p.Gly807=)
c.2806G= (p.Gly936=)
c.2170G= (p.Gly724=)
c.-770G= (n.-770G=)
5g.177211625G>TCA362322926NSD1c.2353G>T (p.Gly785Cys)
n.612+7333G>T
n.2809G>T
c.2917G>T (p.Gly973Cys)
n.2623G>T
c.3226G>T (p.Gly1076Cys)
n.3373G>T
c.2419G>T (p.Gly807Cys)
c.2806G>T (p.Gly936Cys)
c.2170G>T (p.Gly724Cys)
c.-770G>T (n.-770G>T)
5g.177211626G>ACA362322931NSD1c.2354G>A (p.Gly785Asp)
n.612+7334G>A
n.2810G>A
c.2918G>A (p.Gly973Asp)
n.2624G>A
c.3227G>A (p.Gly1076Asp)
n.3374G>A
c.2420G>A (p.Gly807Asp)
c.2807G>A (p.Gly936Asp)
c.2171G>A (p.Gly724Asp)
c.-769G>A (n.-769G>A)
dbSNP gnomAD v4
5g.177211626G>CCA362322932NSD1c.2354G>C (p.Gly785Ala)
n.612+7334G>C
n.2810G>C
c.2918G>C (p.Gly973Ala)
n.2624G>C
c.3227G>C (p.Gly1076Ala)
n.3374G>C
c.2420G>C (p.Gly807Ala)
c.2807G>C (p.Gly936Ala)
c.2171G>C (p.Gly724Ala)
c.-769G>C (n.-769G>C)
5g.177211626G=CA1603478483NSD1c.2354G= (p.Gly785=)
n.612+7334G=
n.2810G=
c.2918G= (p.Gly973=)
n.2624G=
c.3227G= (p.Gly1076=)
n.3374G=
c.2420G= (p.Gly807=)
c.2807G= (p.Gly936=)
c.2171G= (p.Gly724=)
c.-769G= (n.-769G=)
5g.177211626G>TCA362322934NSD1c.2354G>T (p.Gly785Val)
n.612+7334G>T
n.2810G>T
c.2918G>T (p.Gly973Val)
n.2624G>T
c.3227G>T (p.Gly1076Val)
n.3374G>T
c.2420G>T (p.Gly807Val)
c.2807G>T (p.Gly936Val)
c.2171G>T (p.Gly724Val)
c.-769G>T (n.-769G>T)
5g.177211627T>ACA447960903NSD1c.2355T>A (p.Gly785=)
n.612+7335T>A
n.2811T>A
c.2919T>A (p.Gly973=)
n.2625T>A
c.3228T>A (p.Gly1076=)
n.3375T>A
c.2421T>A (p.Gly807=)
c.2808T>A (p.Gly936=)
c.2172T>A (p.Gly724=)
c.-768T>A (n.-768T>A)
dbSNP
5g.177211627T>CCA447960904NSD1c.2355T>C (p.Gly785=)
n.612+7335T>C
n.2811T>C
c.2919T>C (p.Gly973=)
n.2625T>C
c.3228T>C (p.Gly1076=)
n.3375T>C
c.2421T>C (p.Gly807=)
c.2808T>C (p.Gly936=)
c.2172T>C (p.Gly724=)
c.-768T>C (n.-768T>C)
dbSNP gnomAD v3 gnomAD v4
5g.177211627T>GCA447960902NSD1c.2355T>G (p.Gly785=)
n.612+7335T>G
n.2811T>G
c.2919T>G (p.Gly973=)
n.2625T>G
c.3228T>G (p.Gly1076=)
n.3375T>G
c.2421T>G (p.Gly807=)
c.2808T>G (p.Gly936=)
c.2172T>G (p.Gly724=)
c.-768T>G (n.-768T>G)
5g.177211627T=CA1603478488NSD1c.2355T= (p.Gly785=)
n.612+7335T=
n.2811T=
c.2919T= (p.Gly973=)
n.2625T=
c.3228T= (p.Gly1076=)
n.3375T=
c.2421T= (p.Gly807=)
c.2808T= (p.Gly936=)
c.2172T= (p.Gly724=)
c.-768T= (n.-768T=)
5g.177211628T>ACA362322939NSD1c.2356T>A (p.Ser786Thr)
n.612+7336T>A
n.2812T>A
c.2920T>A (p.Ser974Thr)
n.2626T>A
c.3229T>A (p.Ser1077Thr)
n.3376T>A
c.2422T>A (p.Ser808Thr)
c.2809T>A (p.Ser937Thr)
c.2173T>A (p.Ser725Thr)
c.-767T>A (n.-767T>A)
5g.177211628T>CCA362322942NSD1c.2356T>C (p.Ser786Pro)
n.612+7336T>C
n.2812T>C
c.2920T>C (p.Ser974Pro)
n.2626T>C
c.3229T>C (p.Ser1077Pro)
n.3376T>C
c.2422T>C (p.Ser808Pro)
c.2809T>C (p.Ser937Pro)
c.2173T>C (p.Ser725Pro)
c.-767T>C (n.-767T>C)
5g.177211628T>GCA362322945NSD1c.2356T>G (p.Ser786Ala)
n.612+7336T>G
n.2812T>G
c.2920T>G (p.Ser974Ala)
n.2626T>G
c.3229T>G (p.Ser1077Ala)
n.3376T>G
c.2422T>G (p.Ser808Ala)
c.2809T>G (p.Ser937Ala)
c.2173T>G (p.Ser725Ala)
c.-767T>G (n.-767T>G)
5g.177211629C>ACA362322949NSD1c.2357C>A (p.Ser786Ter)
n.612+7337C>A
n.2813C>A
c.2921C>A (p.Ser974Ter)
n.2627C>A
c.3230C>A (p.Ser1077Ter)
n.3377C>A
c.2423C>A (p.Ser808Ter)
c.2810C>A (p.Ser937Ter)
c.2174C>A (p.Ser725Ter)
c.-766C>A (n.-766C>A)
5g.177211629C=CA1603478495NSD1c.2357C= (p.Ser786=)
n.612+7337C=
n.2813C=
c.2921C= (p.Ser974=)
n.2627C=
c.3230C= (p.Ser1077=)
n.3377C=
c.2423C= (p.Ser808=)
c.2810C= (p.Ser937=)
c.2174C= (p.Ser725=)
c.-766C= (n.-766C=)
5g.177211629C>GCA16618171NSD1c.2357C>G (p.Ser786Ter)
n.612+7337C>G
n.2813C>G
c.2921C>G (p.Ser974Ter)
n.2627C>G
c.3230C>G (p.Ser1077Ter)
n.3377C>G
c.2423C>G (p.Ser808Ter)
c.2810C>G (p.Ser937Ter)
c.2174C>G (p.Ser725Ter)
c.-766C>G (n.-766C>G)
ClinVar dbSNP
5g.177211629C>TCA362322953NSD1c.2357C>T (p.Ser786Leu)
n.612+7337C>T
n.2813C>T
c.2921C>T (p.Ser974Leu)
n.2627C>T
c.3230C>T (p.Ser1077Leu)
n.3377C>T
c.2423C>T (p.Ser808Leu)
c.2810C>T (p.Ser937Leu)
c.2174C>T (p.Ser725Leu)
c.-766C>T (n.-766C>T)
dbSNP
5g.177211630A>CCA447960909NSD1c.2358A>C (p.Ser786=)
n.612+7338A>C
n.2814A>C
c.2922A>C (p.Ser974=)
n.2628A>C
c.3231A>C (p.Ser1077=)
n.3378A>C
c.2424A>C (p.Ser808=)
c.2811A>C (p.Ser937=)
c.2175A>C (p.Ser725=)
c.-765A>C (n.-765A>C)
5g.177211630A>GCA447960910NSD1c.2358A>G (p.Ser786=)
n.612+7338A>G
n.2814A>G
c.2922A>G (p.Ser974=)
n.2628A>G
c.3231A>G (p.Ser1077=)
n.3378A>G
c.2424A>G (p.Ser808=)
c.2811A>G (p.Ser937=)
c.2175A>G (p.Ser725=)
c.-765A>G (n.-765A>G)
5g.177211630A>TCA447960911NSD1c.2358A>T (p.Ser786=)
n.612+7338A>T
n.2814A>T
c.2922A>T (p.Ser974=)
n.2628A>T
c.3231A>T (p.Ser1077=)
n.3378A>T
c.2424A>T (p.Ser808=)
c.2811A>T (p.Ser937=)
c.2175A>T (p.Ser725=)
c.-765A>T (n.-765A>T)
5g.177211630_177211636delinsTCCA2580074132NSD1c.2358_2364delinsTC (p.Leu787ArgfsTer7)
n.612+7338_612+7344delinsTC
n.2814_2820delinsTC
c.2922_2928delinsTC (p.Leu975ArgfsTer7)
n.2628_2634delinsTC
c.3231_3237delinsTC (p.Leu1078ArgfsTer7)
n.3378_3384delinsTC
c.2424_2430delinsTC (p.Leu809ArgfsTer7)
c.2811_2817delinsTC (p.Leu938ArgfsTer7)
c.2175_2181delinsTC (p.Leu726ArgfsTer7)
c.-765_-759delinsTC (n.-765_-759delinsTC)
ClinVar dbSNP
5g.177211631T>ACA362322957NSD1c.2359T>A (p.Leu787Met)
n.612+7339T>A
n.2815T>A
c.2923T>A (p.Leu975Met)
n.2629T>A
c.3232T>A (p.Leu1078Met)
n.3379T>A
c.2425T>A (p.Leu809Met)
c.2812T>A (p.Leu938Met)
c.2176T>A (p.Leu726Met)
c.-764T>A (n.-764T>A)
5g.177211631T>CCA447960915NSD1c.2359T>C (p.Leu787=)
n.612+7339T>C
n.2815T>C
c.2923T>C (p.Leu975=)
n.2629T>C
c.3232T>C (p.Leu1078=)
n.3379T>C
c.2425T>C (p.Leu809=)
c.2812T>C (p.Leu938=)
c.2176T>C (p.Leu726=)
c.-764T>C (n.-764T>C)
gnomAD v4
5g.177211631T>GCA362322959NSD1c.2359T>G (p.Leu787Val)
n.612+7339T>G
n.2815T>G
c.2923T>G (p.Leu975Val)
n.2629T>G
c.3232T>G (p.Leu1078Val)
n.3379T>G
c.2425T>G (p.Leu809Val)
c.2812T>G (p.Leu938Val)
c.2176T>G (p.Leu726Val)
c.-764T>G (n.-764T>G)
5g.177211632T>ACA362322963NSD1c.2360T>A (p.Leu787Ter)
n.612+7340T>A
n.2816T>A
c.2924T>A (p.Leu975Ter)
n.2630T>A
c.3233T>A (p.Leu1078Ter)
n.3380T>A
c.2426T>A (p.Leu809Ter)
c.2813T>A (p.Leu938Ter)
c.2177T>A (p.Leu726Ter)
c.-763T>A (n.-763T>A)
5g.177211632T>CCA3577402NSD1c.2360T>C (p.Leu787Ser)
n.612+7340T>C
n.2816T>C
c.2924T>C (p.Leu975Ser)
n.2630T>C
c.3233T>C (p.Leu1078Ser)
n.3380T>C
c.2426T>C (p.Leu809Ser)
c.2813T>C (p.Leu938Ser)
c.2177T>C (p.Leu726Ser)
c.-763T>C (n.-763T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211632T>GCA362322967NSD1c.2360T>G (p.Leu787Trp)
n.612+7340T>G
n.2816T>G
c.2924T>G (p.Leu975Trp)
n.2630T>G
c.3233T>G (p.Leu1078Trp)
n.3380T>G
c.2426T>G (p.Leu809Trp)
c.2813T>G (p.Leu938Trp)
c.2177T>G (p.Leu726Trp)
c.-763T>G (n.-763T>G)
5g.177211632T=CA1603478505NSD1c.2360T= (p.Leu787=)
n.612+7340T=
n.2816T=
c.2924T= (p.Leu975=)
n.2630T=
c.3233T= (p.Leu1078=)
n.3380T=
c.2426T= (p.Leu809=)
c.2813T= (p.Leu938=)
c.2177T= (p.Leu726=)
c.-763T= (n.-763T=)
5g.177211633G>ACA447960917NSD1c.2361G>A (p.Leu787=)
n.612+7341G>A
n.2817G>A
c.2925G>A (p.Leu975=)
n.2631G>A
c.3234G>A (p.Leu1078=)
n.3381G>A
c.2427G>A (p.Leu809=)
c.2814G>A (p.Leu938=)
c.2178G>A (p.Leu726=)
c.-762G>A (n.-762G>A)
5g.177211633G>CCA362322971NSD1c.2361G>C (p.Leu787Phe)
n.612+7341G>C
n.2817G>C
c.2925G>C (p.Leu975Phe)
n.2631G>C
c.3234G>C (p.Leu1078Phe)
n.3381G>C
c.2427G>C (p.Leu809Phe)
c.2814G>C (p.Leu938Phe)
c.2178G>C (p.Leu726Phe)
c.-762G>C (n.-762G>C)
5g.177211633G>TCA362322974NSD1c.2361G>T (p.Leu787Phe)
n.612+7341G>T
n.2817G>T
c.2925G>T (p.Leu975Phe)
n.2631G>T
c.3234G>T (p.Leu1078Phe)
n.3381G>T
c.2427G>T (p.Leu809Phe)
c.2814G>T (p.Leu938Phe)
c.2178G>T (p.Leu726Phe)
c.-762G>T (n.-762G>T)
5g.177211634A=CA1603478514NSD1c.2362A= (p.Arg788=)
n.612+7342A=
n.2818A=
c.2926A= (p.Arg976=)
n.2632A=
c.3235A= (p.Arg1079=)
n.3382A=
c.2428A= (p.Arg810=)
c.2815A= (p.Arg939=)
c.2179A= (p.Arg727=)
c.-761A= (n.-761A=)
5g.177211634A>CCA447960922NSD1c.2362A>C (p.Arg788=)
n.612+7342A>C
n.2818A>C
c.2926A>C (p.Arg976=)
n.2632A>C
c.3235A>C (p.Arg1079=)
n.3382A>C
c.2428A>C (p.Arg810=)
c.2815A>C (p.Arg939=)
c.2179A>C (p.Arg727=)
c.-761A>C (n.-761A>C)
5g.177211634A>GCA362322977NSD1c.2362A>G (p.Arg788Gly)
n.612+7342A>G
n.2818A>G
c.2926A>G (p.Arg976Gly)
n.2632A>G
c.3235A>G (p.Arg1079Gly)
n.3382A>G
c.2428A>G (p.Arg810Gly)
c.2815A>G (p.Arg939Gly)
c.2179A>G (p.Arg727Gly)
c.-761A>G (n.-761A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211634A>TCA362322979NSD1c.2362A>T (p.Arg788Ter)
n.612+7342A>T
n.2818A>T
c.2926A>T (p.Arg976Ter)
n.2632A>T
c.3235A>T (p.Arg1079Ter)
n.3382A>T
c.2428A>T (p.Arg810Ter)
c.2815A>T (p.Arg939Ter)
c.2179A>T (p.Arg727Ter)
c.-761A>T (n.-761A>T)
5g.177211635G>ACA362322985NSD1c.2363G>A (p.Arg788Lys)
n.612+7343G>A
n.2819G>A
c.2927G>A (p.Arg976Lys)
n.2633G>A
c.3236G>A (p.Arg1079Lys)
n.3383G>A
c.2429G>A (p.Arg810Lys)
c.2816G>A (p.Arg939Lys)
c.2180G>A (p.Arg727Lys)
c.-760G>A (n.-760G>A)
5g.177211635G>CCA3577403NSD1c.2363G>C (p.Arg788Thr)
n.612+7343G>C
n.2819G>C
c.2927G>C (p.Arg976Thr)
n.2633G>C
c.3236G>C (p.Arg1079Thr)
n.3383G>C
c.2429G>C (p.Arg810Thr)
c.2816G>C (p.Arg939Thr)
c.2180G>C (p.Arg727Thr)
c.-760G>C (n.-760G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211635G=CA1603478519NSD1c.2363G= (p.Arg788=)
n.612+7343G=
n.2819G=
c.2927G= (p.Arg976=)
n.2633G=
c.3236G= (p.Arg1079=)
n.3383G=
c.2429G= (p.Arg810=)
c.2816G= (p.Arg939=)
c.2180G= (p.Arg727=)
c.-760G= (n.-760G=)
5g.177211635G>TCA362322988NSD1c.2363G>T (p.Arg788Ile)
n.612+7343G>T
n.2819G>T
c.2927G>T (p.Arg976Ile)
n.2633G>T
c.3236G>T (p.Arg1079Ile)
n.3383G>T
c.2429G>T (p.Arg810Ile)
c.2816G>T (p.Arg939Ile)
c.2180G>T (p.Arg727Ile)
c.-760G>T (n.-760G>T)
5g.177211636A>CCA362322992NSD1c.2364A>C (p.Arg788Ser)
n.612+7344A>C
n.2820A>C
c.2928A>C (p.Arg976Ser)
n.2634A>C
c.3237A>C (p.Arg1079Ser)
n.3384A>C
c.2430A>C (p.Arg810Ser)
c.2817A>C (p.Arg939Ser)
c.2181A>C (p.Arg727Ser)
c.-759A>C (n.-759A>C)
5g.177211636A>GCA447960923NSD1c.2364A>G (p.Arg788=)
n.612+7344A>G
n.2820A>G
c.2928A>G (p.Arg976=)
n.2634A>G
c.3237A>G (p.Arg1079=)
n.3384A>G
c.2430A>G (p.Arg810=)
c.2817A>G (p.Arg939=)
c.2181A>G (p.Arg727=)
c.-759A>G (n.-759A>G)
5g.177211636A>TCA362322993NSD1c.2364A>T (p.Arg788Ser)
n.612+7344A>T
n.2820A>T
c.2928A>T (p.Arg976Ser)
n.2634A>T
c.3237A>T (p.Arg1079Ser)
n.3384A>T
c.2430A>T (p.Arg810Ser)
c.2817A>T (p.Arg939Ser)
c.2181A>T (p.Arg727Ser)
c.-759A>T (n.-759A>T)
5g.177211637G>ACA362323001NSD1c.2365G>A (p.Gly789Ser)
n.612+7345G>A
n.2821G>A
c.2929G>A (p.Gly977Ser)
n.2635G>A
c.3238G>A (p.Gly1080Ser)
n.3385G>A
c.2431G>A (p.Gly811Ser)
c.2818G>A (p.Gly940Ser)
c.2182G>A (p.Gly728Ser)
c.-758G>A (n.-758G>A)
ClinVar dbSNP
5g.177211637G>CCA362322999NSD1c.2365G>C (p.Gly789Arg)
n.612+7345G>C
n.2821G>C
c.2929G>C (p.Gly977Arg)
n.2635G>C
c.3238G>C (p.Gly1080Arg)
n.3385G>C
c.2431G>C (p.Gly811Arg)
c.2818G>C (p.Gly940Arg)
c.2182G>C (p.Gly728Arg)
c.-758G>C (n.-758G>C)
5g.177211637G=CA1603478523NSD1c.2365G= (p.Gly789=)
n.612+7345G=
n.2821G=
c.2929G= (p.Gly977=)
n.2635G=
c.3238G= (p.Gly1080=)
n.3385G=
c.2431G= (p.Gly811=)
c.2818G= (p.Gly940=)
c.2182G= (p.Gly728=)
c.-758G= (n.-758G=)
5g.177211637G>TCA362322997NSD1c.2365G>T (p.Gly789Cys)
n.612+7345G>T
n.2821G>T
c.2929G>T (p.Gly977Cys)
n.2635G>T
c.3238G>T (p.Gly1080Cys)
n.3385G>T
c.2431G>T (p.Gly811Cys)
c.2818G>T (p.Gly940Cys)
c.2182G>T (p.Gly728Cys)
c.-758G>T (n.-758G>T)
dbSNP gnomAD v2 gnomAD v4
5g.177211638G>ACA362323004NSD1c.2366G>A (p.Gly789Asp)
n.612+7346G>A
n.2822G>A
c.2930G>A (p.Gly977Asp)
n.2636G>A
c.3239G>A (p.Gly1080Asp)
n.3386G>A
c.2432G>A (p.Gly811Asp)
c.2819G>A (p.Gly940Asp)
c.2183G>A (p.Gly728Asp)
c.-757G>A (n.-757G>A)
dbSNP gnomAD v2 gnomAD v4
5g.177211638G>CCA362323006NSD1c.2366G>C (p.Gly789Ala)
n.612+7346G>C
n.2822G>C
c.2930G>C (p.Gly977Ala)
n.2636G>C
c.3239G>C (p.Gly1080Ala)
n.3386G>C
c.2432G>C (p.Gly811Ala)
c.2819G>C (p.Gly940Ala)
c.2183G>C (p.Gly728Ala)
c.-757G>C (n.-757G>C)
5g.177211638G=CA1603478530NSD1c.2366G= (p.Gly789=)
n.612+7346G=
n.2822G=
c.2930G= (p.Gly977=)
n.2636G=
c.3239G= (p.Gly1080=)
n.3386G=
c.2432G= (p.Gly811=)
c.2819G= (p.Gly940=)
c.2183G= (p.Gly728=)
c.-757G= (n.-757G=)
5g.177211638G>TCA362323008NSD1c.2366G>T (p.Gly789Val)
n.612+7346G>T
n.2822G>T
c.2930G>T (p.Gly977Val)
n.2636G>T
c.3239G>T (p.Gly1080Val)
n.3386G>T
c.2432G>T (p.Gly811Val)
c.2819G>T (p.Gly940Val)
c.2183G>T (p.Gly728Val)
c.-757G>T (n.-757G>T)
gnomAD v4
5g.177211639T>ACA447960929NSD1c.2367T>A (p.Gly789=)
n.612+7347T>A
n.2823T>A
c.2931T>A (p.Gly977=)
n.2637T>A
c.3240T>A (p.Gly1080=)
n.3387T>A
c.2433T>A (p.Gly811=)
c.2820T>A (p.Gly940=)
c.2184T>A (p.Gly728=)
c.-756T>A (n.-756T>A)
dbSNP
5g.177211639T>CCA447960930NSD1c.2367T>C (p.Gly789=)
n.612+7347T>C
n.2823T>C
c.2931T>C (p.Gly977=)
n.2637T>C
c.3240T>C (p.Gly1080=)
n.3387T>C
c.2433T>C (p.Gly811=)
c.2820T>C (p.Gly940=)
c.2184T>C (p.Gly728=)
c.-756T>C (n.-756T>C)
5g.177211639T>GCA447960933NSD1c.2367T>G (p.Gly789=)
n.612+7347T>G
n.2823T>G
c.2931T>G (p.Gly977=)
n.2637T>G
c.3240T>G (p.Gly1080=)
n.3387T>G
c.2433T>G (p.Gly811=)
c.2820T>G (p.Gly940=)
c.2184T>G (p.Gly728=)
c.-756T>G (n.-756T>G)
5g.177211640G>ACA362323012NSD1c.2368G>A (p.Gly790Arg)
n.612+7348G>A
n.2824G>A
c.2932G>A (p.Gly978Arg)
n.2638G>A
c.3241G>A (p.Gly1081Arg)
n.3388G>A
c.2434G>A (p.Gly812Arg)
c.2821G>A (p.Gly941Arg)
c.2185G>A (p.Gly729Arg)
c.-755G>A (n.-755G>A)
gnomAD v4
5g.177211640G>CCA362323015NSD1c.2368G>C (p.Gly790Arg)
n.612+7348G>C
n.2824G>C
c.2932G>C (p.Gly978Arg)
n.2638G>C
c.3241G>C (p.Gly1081Arg)
n.3388G>C
c.2434G>C (p.Gly812Arg)
c.2821G>C (p.Gly941Arg)
c.2185G>C (p.Gly729Arg)
c.-755G>C (n.-755G>C)
5g.177211640G>TCA362323019NSD1c.2368G>T (p.Gly790Trp)
n.612+7348G>T
n.2824G>T
c.2932G>T (p.Gly978Trp)
n.2638G>T
c.3241G>T (p.Gly1081Trp)
n.3388G>T
c.2434G>T (p.Gly812Trp)
c.2821G>T (p.Gly941Trp)
c.2185G>T (p.Gly729Trp)
c.-755G>T (n.-755G>T)
5g.177211641G>ACA362323023NSD1c.2369G>A (p.Gly790Glu)
n.612+7349G>A
n.2825G>A
c.2933G>A (p.Gly978Glu)
n.2639G>A
c.3242G>A (p.Gly1081Glu)
n.3389G>A
c.2435G>A (p.Gly812Glu)
c.2822G>A (p.Gly941Glu)
c.2186G>A (p.Gly729Glu)
c.-754G>A (n.-754G>A)
gnomAD v4
5g.177211641G>CCA3577404NSD1c.2369G>C (p.Gly790Ala)
n.612+7349G>C
n.2825G>C
c.2933G>C (p.Gly978Ala)
n.2639G>C
c.3242G>C (p.Gly1081Ala)
n.3389G>C
c.2435G>C (p.Gly812Ala)
c.2822G>C (p.Gly941Ala)
c.2186G>C (p.Gly729Ala)
c.-754G>C (n.-754G>C)
ClinVar dbSNP ExAC gnomAD v4
5g.177211641G=CA1603478535NSD1c.2369G= (p.Gly790=)
n.612+7349G=
n.2825G=
c.2933G= (p.Gly978=)
n.2639G=
c.3242G= (p.Gly1081=)
n.3389G=
c.2435G= (p.Gly812=)
c.2822G= (p.Gly941=)
c.2186G= (p.Gly729=)
c.-754G= (n.-754G=)
5g.177211641G>TCA362323027NSD1c.2369G>T (p.Gly790Val)
n.612+7349G>T
n.2825G>T
c.2933G>T (p.Gly978Val)
n.2639G>T
c.3242G>T (p.Gly1081Val)
n.3389G>T
c.2435G>T (p.Gly812Val)
c.2822G>T (p.Gly941Val)
c.2186G>T (p.Gly729Val)
c.-754G>T (n.-754G>T)
dbSNP
5g.177211642G>ACA447960935NSD1c.2370G>A (p.Gly790=)
n.612+7350G>A
n.2826G>A
c.2934G>A (p.Gly978=)
n.2640G>A
c.3243G>A (p.Gly1081=)
n.3390G>A
c.2436G>A (p.Gly812=)
c.2823G>A (p.Gly941=)
c.2187G>A (p.Gly729=)
c.-753G>A (n.-753G>A)
5g.177211642G>CCA447960936NSD1c.2370G>C (p.Gly790=)
n.612+7350G>C
n.2826G>C
c.2934G>C (p.Gly978=)
n.2640G>C
c.3243G>C (p.Gly1081=)
n.3390G>C
c.2436G>C (p.Gly812=)
c.2823G>C (p.Gly941=)
c.2187G>C (p.Gly729=)
c.-753G>C (n.-753G>C)
5g.177211642G>TCA447960938NSD1c.2370G>T (p.Gly790=)
n.612+7350G>T
n.2826G>T
c.2934G>T (p.Gly978=)
n.2640G>T
c.3243G>T (p.Gly1081=)
n.3390G>T
c.2436G>T (p.Gly812=)
c.2823G>T (p.Gly941=)
c.2187G>T (p.Gly729=)
c.-753G>T (n.-753G>T)
5g.177211643G>ACA362323032NSD1c.2371G>A (p.Ala791Thr)
n.612+7351G>A
n.2827G>A
c.2935G>A (p.Ala979Thr)
n.2641G>A
c.3244G>A (p.Ala1082Thr)
n.3391G>A
c.2437G>A (p.Ala813Thr)
c.2824G>A (p.Ala942Thr)
c.2188G>A (p.Ala730Thr)
c.-752G>A (n.-752G>A)
dbSNP
5g.177211643G>CCA362323034NSD1c.2371G>C (p.Ala791Pro)
n.612+7351G>C
n.2827G>C
c.2935G>C (p.Ala979Pro)
n.2641G>C
c.3244G>C (p.Ala1082Pro)
n.3391G>C
c.2437G>C (p.Ala813Pro)
c.2824G>C (p.Ala942Pro)
c.2188G>C (p.Ala730Pro)
c.-752G>C (n.-752G>C)
5g.177211643G=CA1603478541NSD1c.2371G= (p.Ala791=)
n.612+7351G=
n.2827G=
c.2935G= (p.Ala979=)
n.2641G=
c.3244G= (p.Ala1082=)
n.3391G=
c.2437G= (p.Ala813=)
c.2824G= (p.Ala942=)
c.2188G= (p.Ala730=)
c.-752G= (n.-752G=)
5g.177211643G>TCA3577405NSD1c.2371G>T (p.Ala791Ser)
n.612+7351G>T
n.2827G>T
c.2935G>T (p.Ala979Ser)
n.2641G>T
c.3244G>T (p.Ala1082Ser)
n.3391G>T
c.2437G>T (p.Ala813Ser)
c.2824G>T (p.Ala942Ser)
c.2188G>T (p.Ala730Ser)
c.-752G>T (n.-752G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211644C>ACA362323046NSD1c.2372C>A (p.Ala791Glu)
n.612+7352C>A
n.2828C>A
c.2936C>A (p.Ala979Glu)
n.2642C>A
c.3245C>A (p.Ala1082Glu)
n.3392C>A
c.2438C>A (p.Ala813Glu)
c.2825C>A (p.Ala942Glu)
c.2189C>A (p.Ala730Glu)
c.-751C>A (n.-751C>A)
5g.177211644C>GCA362323040NSD1c.2372C>G (p.Ala791Gly)
n.612+7352C>G
n.2828C>G
c.2936C>G (p.Ala979Gly)
n.2642C>G
c.3245C>G (p.Ala1082Gly)
n.3392C>G
c.2438C>G (p.Ala813Gly)
c.2825C>G (p.Ala942Gly)
c.2189C>G (p.Ala730Gly)
c.-751C>G (n.-751C>G)
5g.177211644C>TCA362323044NSD1c.2372C>T (p.Ala791Val)
n.612+7352C>T
n.2828C>T
c.2936C>T (p.Ala979Val)
n.2642C>T
c.3245C>T (p.Ala1082Val)
n.3392C>T
c.2438C>T (p.Ala813Val)
c.2825C>T (p.Ala942Val)
c.2189C>T (p.Ala730Val)
c.-751C>T (n.-751C>T)
5g.177211645A>CCA447960943NSD1c.2373A>C (p.Ala791=)
n.612+7353A>C
n.2829A>C
c.2937A>C (p.Ala979=)
n.2643A>C
c.3246A>C (p.Ala1082=)
n.3393A>C
c.2439A>C (p.Ala813=)
c.2826A>C (p.Ala942=)
c.2190A>C (p.Ala730=)
c.-750A>C (n.-750A>C)
5g.177211645A>GCA447960944NSD1c.2373A>G (p.Ala791=)
n.612+7353A>G
n.2829A>G
c.2937A>G (p.Ala979=)
n.2643A>G
c.3246A>G (p.Ala1082=)
n.3393A>G
c.2439A>G (p.Ala813=)
c.2826A>G (p.Ala942=)
c.2190A>G (p.Ala730=)
c.-750A>G (n.-750A>G)
gnomAD v4
5g.177211645A>TCA447960945NSD1c.2373A>T (p.Ala791=)
n.612+7353A>T
n.2829A>T
c.2937A>T (p.Ala979=)
n.2643A>T
c.3246A>T (p.Ala1082=)
n.3393A>T
c.2439A>T (p.Ala813=)
c.2826A>T (p.Ala942=)
c.2190A>T (p.Ala730=)
c.-750A>T (n.-750A>T)
5g.177211646G>ACA3577406NSD1c.2374G>A (p.Glu792Lys)
n.612+7354G>A
n.2830G>A
c.2938G>A (p.Glu980Lys)
n.2644G>A
c.3247G>A (p.Glu1083Lys)
n.3394G>A
c.2440G>A (p.Glu814Lys)
c.2827G>A (p.Glu943Lys)
c.2191G>A (p.Glu731Lys)
c.-749G>A (n.-749G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211646G>CCA362323058NSD1c.2374G>C (p.Glu792Gln)
n.612+7354G>C
n.2830G>C
c.2938G>C (p.Glu980Gln)
n.2644G>C
c.3247G>C (p.Glu1083Gln)
n.3394G>C
c.2440G>C (p.Glu814Gln)
c.2827G>C (p.Glu943Gln)
c.2191G>C (p.Glu731Gln)
c.-749G>C (n.-749G>C)
5g.177211646G=CA1603478559NSD1c.2374G= (p.Glu792=)
n.612+7354G=
n.2830G=
c.2938G= (p.Glu980=)
n.2644G=
c.3247G= (p.Glu1083=)
n.3394G=
c.2440G= (p.Glu814=)
c.2827G= (p.Glu943=)
c.2191G= (p.Glu731=)
c.-749G= (n.-749G=)
5g.177211646G>TCA362323055NSD1c.2374G>T (p.Glu792Ter)
n.612+7354G>T
n.2830G>T
c.2938G>T (p.Glu980Ter)
n.2644G>T
c.3247G>T (p.Glu1083Ter)
n.3394G>T
c.2440G>T (p.Glu814Ter)
c.2827G>T (p.Glu943Ter)
c.2191G>T (p.Glu731Ter)
c.-749G>T (n.-749G>T)
5g.177211647A=CA1603478561NSD1c.2375A= (p.Glu792=)
n.612+7355A=
n.2831A=
c.2939A= (p.Glu980=)
n.2645A=
c.3248A= (p.Glu1083=)
n.3395A=
c.2441A= (p.Glu814=)
c.2828A= (p.Glu943=)
c.2192A= (p.Glu731=)
c.-748A= (n.-748A=)
5g.177211647A>CCA362323063NSD1c.2375A>C (p.Glu792Ala)
n.612+7355A>C
n.2831A>C
c.2939A>C (p.Glu980Ala)
n.2645A>C
c.3248A>C (p.Glu1083Ala)
n.3395A>C
c.2441A>C (p.Glu814Ala)
c.2828A>C (p.Glu943Ala)
c.2192A>C (p.Glu731Ala)
c.-748A>C (n.-748A>C)
5g.177211647A>GCA3577407NSD1c.2375A>G (p.Glu792Gly)
n.612+7355A>G
n.2831A>G
c.2939A>G (p.Glu980Gly)
n.2645A>G
c.3248A>G (p.Glu1083Gly)
n.3395A>G
c.2441A>G (p.Glu814Gly)
c.2828A>G (p.Glu943Gly)
c.2192A>G (p.Glu731Gly)
c.-748A>G (n.-748A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211647A>TCA362323067NSD1c.2375A>T (p.Glu792Val)
n.612+7355A>T
n.2831A>T
c.2939A>T (p.Glu980Val)
n.2645A>T
c.3248A>T (p.Glu1083Val)
n.3395A>T
c.2441A>T (p.Glu814Val)
c.2828A>T (p.Glu943Val)
c.2192A>T (p.Glu731Val)
c.-748A>T (n.-748A>T)
5g.177211648A>CCA362323073NSD1c.2376A>C (p.Glu792Asp)
n.612+7356A>C
n.2832A>C
c.2940A>C (p.Glu980Asp)
n.2646A>C
c.3249A>C (p.Glu1083Asp)
n.3396A>C
c.2442A>C (p.Glu814Asp)
c.2829A>C (p.Glu943Asp)
c.2193A>C (p.Glu731Asp)
c.-747A>C (n.-747A>C)
5g.177211648A>GCA447960953NSD1c.2376A>G (p.Glu792=)
n.612+7356A>G
n.2832A>G
c.2940A>G (p.Glu980=)
n.2646A>G
c.3249A>G (p.Glu1083=)
n.3396A>G
c.2442A>G (p.Glu814=)
c.2829A>G (p.Glu943=)
c.2193A>G (p.Glu731=)
c.-747A>G (n.-747A>G)
5g.177211648A>TCA362323075NSD1c.2376A>T (p.Glu792Asp)
n.612+7356A>T
n.2832A>T
c.2940A>T (p.Glu980Asp)
n.2646A>T
c.3249A>T (p.Glu1083Asp)
n.3396A>T
c.2442A>T (p.Glu814Asp)
c.2829A>T (p.Glu943Asp)
c.2193A>T (p.Glu731Asp)
c.-747A>T (n.-747A>T)
5g.177211649G>ACA362323079NSD1c.2377G>A (p.Asp793Asn)
n.612+7357G>A
n.2833G>A
c.2941G>A (p.Asp981Asn)
n.2647G>A
c.3250G>A (p.Asp1084Asn)
n.3397G>A
c.2443G>A (p.Asp815Asn)
c.2830G>A (p.Asp944Asn)
c.2194G>A (p.Asp732Asn)
c.-746G>A (n.-746G>A)
5g.177211649G>CCA362323081NSD1c.2377G>C (p.Asp793His)
n.612+7357G>C
n.2833G>C
c.2941G>C (p.Asp981His)
n.2647G>C
c.3250G>C (p.Asp1084His)
n.3397G>C
c.2443G>C (p.Asp815His)
c.2830G>C (p.Asp944His)
c.2194G>C (p.Asp732His)
c.-746G>C (n.-746G>C)
5g.177211649G>TCA362323085NSD1c.2377G>T (p.Asp793Tyr)
n.612+7357G>T
n.2833G>T
c.2941G>T (p.Asp981Tyr)
n.2647G>T
c.3250G>T (p.Asp1084Tyr)
n.3397G>T
c.2443G>T (p.Asp815Tyr)
c.2830G>T (p.Asp944Tyr)
c.2194G>T (p.Asp732Tyr)
c.-746G>T (n.-746G>T)
5g.177211650A>CCA362323092NSD1c.2378A>C (p.Asp793Ala)
n.612+7358A>C
n.2834A>C
c.2942A>C (p.Asp981Ala)
n.2648A>C
c.3251A>C (p.Asp1084Ala)
n.3398A>C
c.2444A>C (p.Asp815Ala)
c.2831A>C (p.Asp944Ala)
c.2195A>C (p.Asp732Ala)
c.-745A>C (n.-745A>C)
5g.177211650A>GCA362323096NSD1c.2378A>G (p.Asp793Gly)
n.612+7358A>G
n.2834A>G
c.2942A>G (p.Asp981Gly)
n.2648A>G
c.3251A>G (p.Asp1084Gly)
n.3398A>G
c.2444A>G (p.Asp815Gly)
c.2831A>G (p.Asp944Gly)
c.2195A>G (p.Asp732Gly)
c.-745A>G (n.-745A>G)
5g.177211650A>TCA362323094NSD1c.2378A>T (p.Asp793Val)
n.612+7358A>T
n.2834A>T
c.2942A>T (p.Asp981Val)
n.2648A>T
c.3251A>T (p.Asp1084Val)
n.3398A>T
c.2444A>T (p.Asp815Val)
c.2831A>T (p.Asp944Val)
c.2195A>T (p.Asp732Val)
c.-745A>T (n.-745A>T)
gnomAD v4
5g.177211651T>ACA362323100NSD1c.2379T>A (p.Asp793Glu)
n.612+7359T>A
n.2835T>A
c.2943T>A (p.Asp981Glu)
n.2649T>A
c.3252T>A (p.Asp1084Glu)
n.3399T>A
c.2445T>A (p.Asp815Glu)
c.2832T>A (p.Asp944Glu)
c.2196T>A (p.Asp732Glu)
c.-744T>A (n.-744T>A)
5g.177211651T>CCA447960957NSD1c.2379T>C (p.Asp793=)
n.612+7359T>C
n.2835T>C
c.2943T>C (p.Asp981=)
n.2649T>C
c.3252T>C (p.Asp1084=)
n.3399T>C
c.2445T>C (p.Asp815=)
c.2832T>C (p.Asp944=)
c.2196T>C (p.Asp732=)
c.-744T>C (n.-744T>C)
5g.177211651T>GCA362323102NSD1c.2379T>G (p.Asp793Glu)
n.612+7359T>G
n.2835T>G
c.2943T>G (p.Asp981Glu)
n.2649T>G
c.3252T>G (p.Asp1084Glu)
n.3399T>G
c.2445T>G (p.Asp815Glu)
c.2832T>G (p.Asp944Glu)
c.2196T>G (p.Asp732Glu)
c.-744T>G (n.-744T>G)
5g.177211652C>ACA362323105NSD1c.2380C>A (p.Pro794Thr)
n.612+7360C>A
n.2836C>A
c.2944C>A (p.Pro982Thr)
n.2650C>A
c.3253C>A (p.Pro1085Thr)
n.3400C>A
c.2446C>A (p.Pro816Thr)
c.2833C>A (p.Pro945Thr)
c.2197C>A (p.Pro733Thr)
c.-743C>A (n.-743C>A)
dbSNP
5g.177211652C>GCA362323108NSD1c.2380C>G (p.Pro794Ala)
n.612+7360C>G
n.2836C>G
c.2944C>G (p.Pro982Ala)
n.2650C>G
c.3253C>G (p.Pro1085Ala)
n.3400C>G
c.2446C>G (p.Pro816Ala)
c.2833C>G (p.Pro945Ala)
c.2197C>G (p.Pro733Ala)
c.-743C>G (n.-743C>G)
dbSNP
5g.177211652C>TCA362323110NSD1c.2380C>T (p.Pro794Ser)
n.612+7360C>T
n.2836C>T
c.2944C>T (p.Pro982Ser)
n.2650C>T
c.3253C>T (p.Pro1085Ser)
n.3400C>T
c.2446C>T (p.Pro816Ser)
c.2833C>T (p.Pro945Ser)
c.2197C>T (p.Pro733Ser)
c.-743C>T (n.-743C>T)
dbSNP
5g.177211653delCA2499217772NSD1c.2381del (p.Pro794LeufsTer9)
n.612+7361del
n.2837del
c.2945del (p.Pro982LeufsTer9)
n.2651del
c.3254del (p.Pro1085LeufsTer9)
n.3401del
c.2447del (p.Pro816LeufsTer9)
c.2834del (p.Pro945LeufsTer9)
c.2198del (p.Pro733LeufsTer9)
c.-742del (n.-742del)
ClinVar dbSNP
5g.177211653C>ACA362323115NSD1c.2381C>A (p.Pro794His)
n.612+7361C>A
n.2837C>A
c.2945C>A (p.Pro982His)
n.2651C>A
c.3254C>A (p.Pro1085His)
n.3401C>A
c.2447C>A (p.Pro816His)
c.2834C>A (p.Pro945His)
c.2198C>A (p.Pro733His)
c.-742C>A (n.-742C>A)
5g.177211653C>GCA362323122NSD1c.2381C>G (p.Pro794Arg)
n.612+7361C>G
n.2837C>G
c.2945C>G (p.Pro982Arg)
n.2651C>G
c.3254C>G (p.Pro1085Arg)
n.3401C>G
c.2447C>G (p.Pro816Arg)
c.2834C>G (p.Pro945Arg)
c.2198C>G (p.Pro733Arg)
c.-742C>G (n.-742C>G)
gnomAD v4
5g.177211653C>TCA362323120NSD1c.2381C>T (p.Pro794Leu)
n.612+7361C>T
n.2837C>T
c.2945C>T (p.Pro982Leu)
n.2651C>T
c.3254C>T (p.Pro1085Leu)
n.3401C>T
c.2447C>T (p.Pro816Leu)
c.2834C>T (p.Pro945Leu)
c.2198C>T (p.Pro733Leu)
c.-742C>T (n.-742C>T)
dbSNP gnomAD v4
5g.177211654T>ACA447960960NSD1c.2382T>A (p.Pro794=)
n.612+7362T>A
n.2838T>A
c.2946T>A (p.Pro982=)
n.2652T>A
c.3255T>A (p.Pro1085=)
n.3402T>A
c.2448T>A (p.Pro816=)
c.2835T>A (p.Pro945=)
c.2199T>A (p.Pro733=)
c.-741T>A (n.-741T>A)
5g.177211654T>CCA447960961NSD1c.2382T>C (p.Pro794=)
n.612+7362T>C
n.2838T>C
c.2946T>C (p.Pro982=)
n.2652T>C
c.3255T>C (p.Pro1085=)
n.3402T>C
c.2448T>C (p.Pro816=)
c.2835T>C (p.Pro945=)
c.2199T>C (p.Pro733=)
c.-741T>C (n.-741T>C)
5g.177211654T>GCA447960962NSD1c.2382T>G (p.Pro794=)
n.612+7362T>G
n.2838T>G
c.2946T>G (p.Pro982=)
n.2652T>G
c.3255T>G (p.Pro1085=)
n.3402T>G
c.2448T>G (p.Pro816=)
c.2835T>G (p.Pro945=)
c.2199T>G (p.Pro733=)
c.-741T>G (n.-741T>G)
5g.177211655A=CA1603478565NSD1c.2383A= (p.Ser795=)
n.612+7363A=
n.2839A=
c.2947A= (p.Ser983=)
n.2653A=
c.3256A= (p.Ser1086=)
n.3403A=
c.2449A= (p.Ser817=)
c.2836A= (p.Ser946=)
c.2200A= (p.Ser734=)
c.-740A= (n.-740A=)
5g.177211655A>CCA362323127NSD1c.2383A>C (p.Ser795Arg)
n.612+7363A>C
n.2839A>C
c.2947A>C (p.Ser983Arg)
n.2653A>C
c.3256A>C (p.Ser1086Arg)
n.3403A>C
c.2449A>C (p.Ser817Arg)
c.2836A>C (p.Ser946Arg)
c.2200A>C (p.Ser734Arg)
c.-740A>C (n.-740A>C)
5g.177211655A>GCA132831187NSD1c.2383A>G (p.Ser795Gly)
n.612+7363A>G
n.2839A>G
c.2947A>G (p.Ser983Gly)
n.2653A>G
c.3256A>G (p.Ser1086Gly)
n.3403A>G
c.2449A>G (p.Ser817Gly)
c.2836A>G (p.Ser946Gly)
c.2200A>G (p.Ser734Gly)
c.-740A>G (n.-740A>G)
dbSNP
5g.177211655A>TCA362323132NSD1c.2383A>T (p.Ser795Cys)
n.612+7363A>T
n.2839A>T
c.2947A>T (p.Ser983Cys)
n.2653A>T
c.3256A>T (p.Ser1086Cys)
n.3403A>T
c.2449A>T (p.Ser817Cys)
c.2836A>T (p.Ser946Cys)
c.2200A>T (p.Ser734Cys)
c.-740A>T (n.-740A>T)
5g.177211656G>ACA362323136NSD1c.2384G>A (p.Ser795Asn)
n.612+7364G>A
n.2840G>A
c.2948G>A (p.Ser983Asn)
n.2654G>A
c.3257G>A (p.Ser1086Asn)
n.3404G>A
c.2450G>A (p.Ser817Asn)
c.2837G>A (p.Ser946Asn)
c.2201G>A (p.Ser734Asn)
c.-739G>A (n.-739G>A)
dbSNP
5g.177211656G>CCA362323139NSD1c.2384G>C (p.Ser795Thr)
n.612+7364G>C
n.2840G>C
c.2948G>C (p.Ser983Thr)
n.2654G>C
c.3257G>C (p.Ser1086Thr)
n.3404G>C
c.2450G>C (p.Ser817Thr)
c.2837G>C (p.Ser946Thr)
c.2201G>C (p.Ser734Thr)
c.-739G>C (n.-739G>C)
5g.177211656G>TCA362323142NSD1c.2384G>T (p.Ser795Ile)
n.612+7364G>T
n.2840G>T
c.2948G>T (p.Ser983Ile)
n.2654G>T
c.3257G>T (p.Ser1086Ile)
n.3404G>T
c.2450G>T (p.Ser817Ile)
c.2837G>T (p.Ser946Ile)
c.2201G>T (p.Ser734Ile)
c.-739G>T (n.-739G>T)
5g.177211657T>ACA362323145NSD1c.2385T>A (p.Ser795Arg)
n.612+7365T>A
n.2841T>A
c.2949T>A (p.Ser983Arg)
n.2655T>A
c.3258T>A (p.Ser1086Arg)
n.3405T>A
c.2451T>A (p.Ser817Arg)
c.2838T>A (p.Ser946Arg)
c.2202T>A (p.Ser734Arg)
c.-738T>A (n.-738T>A)
5g.177211657T>CCA447960966NSD1c.2385T>C (p.Ser795=)
n.612+7365T>C
n.2841T>C
c.2949T>C (p.Ser983=)
n.2655T>C
c.3258T>C (p.Ser1086=)
n.3405T>C
c.2451T>C (p.Ser817=)
c.2838T>C (p.Ser946=)
c.2202T>C (p.Ser734=)
c.-738T>C (n.-738T>C)
5g.177211657T>GCA362323159NSD1c.2385T>G (p.Ser795Arg)
n.612+7365T>G
n.2841T>G
c.2949T>G (p.Ser983Arg)
n.2655T>G
c.3258T>G (p.Ser1086Arg)
n.3405T>G
c.2451T>G (p.Ser817Arg)
c.2838T>G (p.Ser946Arg)
c.2202T>G (p.Ser734Arg)
c.-738T>G (n.-738T>G)
5g.177211657_177211664delinsTAAAGAGGCA1603478569NSD1c.2385_2392delinsTAAAGAGG (p.Ser795=)
n.612+7365_612+7372delinsTAAAGAGG
n.2841_2848delinsTAAAGAGG
c.2949_2956delinsTAAAGAGG (p.Ser983=)
n.2655_2662delinsTAAAGAGG
c.3258_3265delinsTAAAGAGG (p.Ser1086=)
n.3405_3412delinsTAAAGAGG
c.2451_2458delinsTAAAGAGG (p.Ser817=)
c.2838_2845delinsTAAAGAGG (p.Ser946=)
c.2202_2209delinsTAAAGAGG (p.Ser734=)
c.-738_-731delinsTAAAGAGG (n.-738_-731delinsTAAAGAGG)
5g.177211658A>CCA362323166NSD1c.2386A>C (p.Lys796Gln)
n.612+7366A>C
n.2842A>C
c.2950A>C (p.Lys984Gln)
n.2656A>C
c.3259A>C (p.Lys1087Gln)
n.3406A>C
c.2452A>C (p.Lys818Gln)
c.2839A>C (p.Lys947Gln)
c.2203A>C (p.Lys735Gln)
c.-737A>C (n.-737A>C)
5g.177211658A>GCA362323169NSD1c.2386A>G (p.Lys796Glu)
n.612+7366A>G
n.2842A>G
c.2950A>G (p.Lys984Glu)
n.2656A>G
c.3259A>G (p.Lys1087Glu)
n.3406A>G
c.2452A>G (p.Lys818Glu)
c.2839A>G (p.Lys947Glu)
c.2203A>G (p.Lys735Glu)
c.-737A>G (n.-737A>G)
5g.177211658A>TCA362323172NSD1c.2386A>T (p.Lys796Ter)
n.612+7366A>T
n.2842A>T
c.2950A>T (p.Lys984Ter)
n.2656A>T
c.3259A>T (p.Lys1087Ter)
n.3406A>T
c.2452A>T (p.Lys818Ter)
c.2839A>T (p.Lys947Ter)
c.2203A>T (p.Lys735Ter)
c.-737A>T (n.-737A>T)
5g.177211659_177211665delCA319700NSD1c.2387_2393del (p.Lys796IlefsTer5)
n.612+7367_612+7373del
n.2843_2849del
c.2951_2957del (p.Lys984IlefsTer5)
n.2657_2663del
c.3260_3266del (p.Lys1087IlefsTer5)
n.3407_3413del
c.2453_2459del (p.Lys818IlefsTer5)
c.2840_2846del (p.Lys947IlefsTer5)
c.2204_2210del (p.Lys735IlefsTer5)
c.-736_-730del (n.-736_-730del)
ClinVar dbSNP
5g.177211659A>CCA362323179NSD1c.2387A>C (p.Lys796Thr)
n.612+7367A>C
n.2843A>C
c.2951A>C (p.Lys984Thr)
n.2657A>C
c.3260A>C (p.Lys1087Thr)
n.3407A>C
c.2453A>C (p.Lys818Thr)
c.2840A>C (p.Lys947Thr)
c.2204A>C (p.Lys735Thr)
c.-736A>C (n.-736A>C)
5g.177211659A>GCA362323186NSD1c.2387A>G (p.Lys796Arg)
n.612+7367A>G
n.2843A>G
c.2951A>G (p.Lys984Arg)
n.2657A>G
c.3260A>G (p.Lys1087Arg)
n.3407A>G
c.2453A>G (p.Lys818Arg)
c.2840A>G (p.Lys947Arg)
c.2204A>G (p.Lys735Arg)
c.-736A>G (n.-736A>G)
5g.177211659A>TCA362323182NSD1c.2387A>T (p.Lys796Ile)
n.612+7367A>T
n.2843A>T
c.2951A>T (p.Lys984Ile)
n.2657A>T
c.3260A>T (p.Lys1087Ile)
n.3407A>T
c.2453A>T (p.Lys818Ile)
c.2840A>T (p.Lys947Ile)
c.2204A>T (p.Lys735Ile)
c.-736A>T (n.-736A>T)
5g.177211660A=CA1603478577NSD1c.2388A= (p.Lys796=)
n.612+7368A=
n.2844A=
c.2952A= (p.Lys984=)
n.2658A=
c.3261A= (p.Lys1087=)
n.3408A=
c.2454A= (p.Lys818=)
c.2841A= (p.Lys947=)
c.2205A= (p.Lys735=)
c.-735A= (n.-735A=)
5g.177211660A>CCA362323190NSD1c.2388A>C (p.Lys796Asn)
n.612+7368A>C
n.2844A>C
c.2952A>C (p.Lys984Asn)
n.2658A>C
c.3261A>C (p.Lys1087Asn)
n.3408A>C
c.2454A>C (p.Lys818Asn)
c.2841A>C (p.Lys947Asn)
c.2205A>C (p.Lys735Asn)
c.-735A>C (n.-735A>C)
5g.177211660A>GCA447960967NSD1c.2388A>G (p.Lys796=)
n.612+7368A>G
n.2844A>G
c.2952A>G (p.Lys984=)
n.2658A>G
c.3261A>G (p.Lys1087=)
n.3408A>G
c.2454A>G (p.Lys818=)
c.2841A>G (p.Lys947=)
c.2205A>G (p.Lys735=)
c.-735A>G (n.-735A>G)
dbSNP
5g.177211660A>TCA362323193NSD1c.2388A>T (p.Lys796Asn)
n.612+7368A>T
n.2844A>T
c.2952A>T (p.Lys984Asn)
n.2658A>T
c.3261A>T (p.Lys1087Asn)
n.3408A>T
c.2454A>T (p.Lys818Asn)
c.2841A>T (p.Lys947Asn)
c.2205A>T (p.Lys735Asn)
c.-735A>T (n.-735A>T)
5g.177211661G>ACA362323199NSD1c.2389G>A (p.Glu797Lys)
n.612+7369G>A
n.2845G>A
c.2953G>A (p.Glu985Lys)
n.2659G>A
c.3262G>A (p.Glu1088Lys)
n.3409G>A
c.2455G>A (p.Glu819Lys)
c.2842G>A (p.Glu948Lys)
c.2206G>A (p.Glu736Lys)
c.-734G>A (n.-734G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211661G>CCA362323201NSD1c.2389G>C (p.Glu797Gln)
n.612+7369G>C
n.2845G>C
c.2953G>C (p.Glu985Gln)
n.2659G>C
c.3262G>C (p.Glu1088Gln)
n.3409G>C
c.2455G>C (p.Glu819Gln)
c.2842G>C (p.Glu948Gln)
c.2206G>C (p.Glu736Gln)
c.-734G>C (n.-734G>C)
dbSNP
5g.177211661G=CA1603478580NSD1c.2389G= (p.Glu797=)
n.612+7369G=
n.2845G=
c.2953G= (p.Glu985=)
n.2659G=
c.3262G= (p.Glu1088=)
n.3409G=
c.2455G= (p.Glu819=)
c.2842G= (p.Glu948=)
c.2206G= (p.Glu736=)
c.-734G= (n.-734G=)
5g.177211661G>TCA362323204NSD1c.2389G>T (p.Glu797Ter)
n.612+7369G>T
n.2845G>T
c.2953G>T (p.Glu985Ter)
n.2659G>T
c.3262G>T (p.Glu1088Ter)
n.3409G>T
c.2455G>T (p.Glu819Ter)
c.2842G>T (p.Glu948Ter)
c.2206G>T (p.Glu736Ter)
c.-734G>T (n.-734G>T)
5g.177211662A>CCA362323210NSD1c.2390A>C (p.Glu797Ala)
n.612+7370A>C
n.2846A>C
c.2954A>C (p.Glu985Ala)
n.2660A>C
c.3263A>C (p.Glu1088Ala)
n.3410A>C
c.2456A>C (p.Glu819Ala)
c.2843A>C (p.Glu948Ala)
c.2207A>C (p.Glu736Ala)
c.-733A>C (n.-733A>C)
5g.177211662A>GCA362323211NSD1c.2390A>G (p.Glu797Gly)
n.612+7370A>G
n.2846A>G
c.2954A>G (p.Glu985Gly)
n.2660A>G
c.3263A>G (p.Glu1088Gly)
n.3410A>G
c.2456A>G (p.Glu819Gly)
c.2843A>G (p.Glu948Gly)
c.2207A>G (p.Glu736Gly)
c.-733A>G (n.-733A>G)
5g.177211662A>TCA362323216NSD1c.2390A>T (p.Glu797Val)
n.612+7370A>T
n.2846A>T
c.2954A>T (p.Glu985Val)
n.2660A>T
c.3263A>T (p.Glu1088Val)
n.3410A>T
c.2456A>T (p.Glu819Val)
c.2843A>T (p.Glu948Val)
c.2207A>T (p.Glu736Val)
c.-733A>T (n.-733A>T)
5g.177211663G>ACA447960968NSD1c.2391G>A (p.Glu797=)
n.612+7371G>A
n.2847G>A
c.2955G>A (p.Glu985=)
n.2661G>A
c.3264G>A (p.Glu1088=)
n.3411G>A
c.2457G>A (p.Glu819=)
c.2844G>A (p.Glu948=)
c.2208G>A (p.Glu736=)
c.-732G>A (n.-732G>A)
5g.177211663G>CCA3577408NSD1c.2391G>C (p.Glu797Asp)
n.612+7371G>C
n.2847G>C
c.2955G>C (p.Glu985Asp)
n.2661G>C
c.3264G>C (p.Glu1088Asp)
n.3411G>C
c.2457G>C (p.Glu819Asp)
c.2844G>C (p.Glu948Asp)
c.2208G>C (p.Glu736Asp)
c.-732G>C (n.-732G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177211663G=CA1603478589NSD1c.2391G= (p.Glu797=)
n.612+7371G=
n.2847G=
c.2955G= (p.Glu985=)
n.2661G=
c.3264G= (p.Glu1088=)
n.3411G=
c.2457G= (p.Glu819=)
c.2844G= (p.Glu948=)
c.2208G= (p.Glu736=)
c.-732G= (n.-732G=)
5g.177211663G>TCA362323224NSD1c.2391G>T (p.Glu797Asp)
n.612+7371G>T
n.2847G>T
c.2955G>T (p.Glu985Asp)
n.2661G>T
c.3264G>T (p.Glu1088Asp)
n.3411G>T
c.2457G>T (p.Glu819Asp)
c.2844G>T (p.Glu948Asp)
c.2208G>T (p.Glu736Asp)
c.-732G>T (n.-732G>T)
5g.177211664G>ACA362323231NSD1c.2392G>A (p.Asp798Asn)
n.612+7372G>A
n.2848G>A
c.2956G>A (p.Asp986Asn)
n.2662G>A
c.3265G>A (p.Asp1089Asn)
n.3412G>A
c.2458G>A (p.Asp820Asn)
c.2845G>A (p.Asp949Asn)
c.2209G>A (p.Asp737Asn)
c.-731G>A (n.-731G>A)
COSMIC COSMIC
5g.177211664G>CCA362323241NSD1c.2392G>C (p.Asp798His)
n.612+7372G>C
n.2848G>C
c.2956G>C (p.Asp986His)
n.2662G>C
c.3265G>C (p.Asp1089His)
n.3412G>C
c.2458G>C (p.Asp820His)
c.2845G>C (p.Asp949His)
c.2209G>C (p.Asp737His)
c.-731G>C (n.-731G>C)
dbSNP
5g.177211664G>TCA362323244NSD1c.2392G>T (p.Asp798Tyr)
n.612+7372G>T
n.2848G>T
c.2956G>T (p.Asp986Tyr)
n.2662G>T
c.3265G>T (p.Asp1089Tyr)
n.3412G>T
c.2458G>T (p.Asp820Tyr)
c.2845G>T (p.Asp949Tyr)
c.2209G>T (p.Asp737Tyr)
c.-731G>T (n.-731G>T)
5g.177211665A>CCA362323256NSD1c.2393A>C (p.Asp798Ala)
n.612+7373A>C
n.2849A>C
c.2957A>C (p.Asp986Ala)
n.2663A>C
c.3266A>C (p.Asp1089Ala)
n.3413A>C
c.2459A>C (p.Asp820Ala)
c.2846A>C (p.Asp949Ala)
c.2210A>C (p.Asp737Ala)
c.-730A>C (n.-730A>C)
5g.177211665A>GCA362323249NSD1c.2393A>G (p.Asp798Gly)
n.612+7373A>G
n.2849A>G
c.2957A>G (p.Asp986Gly)
n.2663A>G
c.3266A>G (p.Asp1089Gly)
n.3413A>G
c.2459A>G (p.Asp820Gly)
c.2846A>G (p.Asp949Gly)
c.2210A>G (p.Asp737Gly)
c.-730A>G (n.-730A>G)
5g.177211665A>TCA362323252NSD1c.2393A>T (p.Asp798Val)
n.612+7373A>T
n.2849A>T
c.2957A>T (p.Asp986Val)
n.2663A>T
c.3266A>T (p.Asp1089Val)
n.3413A>T
c.2459A>T (p.Asp820Val)
c.2846A>T (p.Asp949Val)
c.2210A>T (p.Asp737Val)
c.-730A>T (n.-730A>T)
5g.177211666T>ACA362323263NSD1c.2394T>A (p.Asp798Glu)
n.612+7374T>A
n.2850T>A
c.2958T>A (p.Asp986Glu)
n.2664T>A
c.3267T>A (p.Asp1089Glu)
n.3414T>A
c.2460T>A (p.Asp820Glu)
c.2847T>A (p.Asp949Glu)
c.2211T>A (p.Asp737Glu)
c.-729T>A (n.-729T>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211666T>CCA447960969NSD1c.2394T>C (p.Asp798=)
n.612+7374T>C
n.2850T>C
c.2958T>C (p.Asp986=)
n.2664T>C
c.3267T>C (p.Asp1089=)
n.3414T>C
c.2460T>C (p.Asp820=)
c.2847T>C (p.Asp949=)
c.2211T>C (p.Asp737=)
c.-729T>C (n.-729T>C)
5g.177211666T>GCA362323277NSD1c.2394T>G (p.Asp798Glu)
n.612+7374T>G
n.2850T>G
c.2958T>G (p.Asp986Glu)
n.2664T>G
c.3267T>G (p.Asp1089Glu)
n.3414T>G
c.2460T>G (p.Asp820Glu)
c.2847T>G (p.Asp949Glu)
c.2211T>G (p.Asp737Glu)
c.-729T>G (n.-729T>G)
dbSNP
5g.177211666T=CA1603478596NSD1c.2394T= (p.Asp798=)
n.612+7374T=
n.2850T=
c.2958T= (p.Asp986=)
n.2664T=
c.3267T= (p.Asp1089=)
n.3414T=
c.2460T= (p.Asp820=)
c.2847T= (p.Asp949=)
c.2211T= (p.Asp737=)
c.-729T= (n.-729T=)
5g.177211667C>ACA362323282NSD1c.2395C>A (p.Pro799Thr)
n.612+7375C>A
n.2851C>A
c.2959C>A (p.Pro987Thr)
n.2665C>A
c.3268C>A (p.Pro1090Thr)
n.3415C>A
c.2461C>A (p.Pro821Thr)
c.2848C>A (p.Pro950Thr)
c.2212C>A (p.Pro738Thr)
c.-728C>A (n.-728C>A)
dbSNP
5g.177211667C=CA1603478602NSD1c.2395C= (p.Pro799=)
n.612+7375C=
n.2851C=
c.2959C= (p.Pro987=)
n.2665C=
c.3268C= (p.Pro1090=)
n.3415C=
c.2461C= (p.Pro821=)
c.2848C= (p.Pro950=)
c.2212C= (p.Pro738=)
c.-728C= (n.-728C=)
5g.177211667C>GCA362323286NSD1c.2395C>G (p.Pro799Ala)
n.612+7375C>G
n.2851C>G
c.2959C>G (p.Pro987Ala)
n.2665C>G
c.3268C>G (p.Pro1090Ala)
n.3415C>G
c.2461C>G (p.Pro821Ala)
c.2848C>G (p.Pro950Ala)
c.2212C>G (p.Pro738Ala)
c.-728C>G (n.-728C>G)
5g.177211667C>TCA362323288NSD1c.2395C>T (p.Pro799Ser)
n.612+7375C>T
n.2851C>T
c.2959C>T (p.Pro987Ser)
n.2665C>T
c.3268C>T (p.Pro1090Ser)
n.3415C>T
c.2461C>T (p.Pro821Ser)
c.2848C>T (p.Pro950Ser)
c.2212C>T (p.Pro738Ser)
c.-728C>T (n.-728C>T)
5g.177211670dupCA1139655897NSD1c.2398dup (p.Leu800ProfsTer10)
n.612+7378dup
n.2854dup
c.2962dup (p.Leu988ProfsTer10)
n.2668dup
c.3271dup (p.Leu1091ProfsTer10)
n.3418dup
c.2464dup (p.Leu822ProfsTer10)
c.2851dup (p.Leu951ProfsTer10)
c.2215dup (p.Leu739ProfsTer10)
c.-725dup (n.-725dup)
ClinVar dbSNP
5g.177211668C>ACA362323294NSD1c.2396C>A (p.Pro799His)
n.612+7376C>A
n.2852C>A
c.2960C>A (p.Pro987His)
n.2666C>A
c.3269C>A (p.Pro1090His)
n.3416C>A
c.2462C>A (p.Pro821His)
c.2849C>A (p.Pro950His)
c.2213C>A (p.Pro738His)
c.-727C>A (n.-727C>A)
5g.177211668C>GCA362323297NSD1c.2396C>G (p.Pro799Arg)
n.612+7376C>G
n.2852C>G
c.2960C>G (p.Pro987Arg)
n.2666C>G
c.3269C>G (p.Pro1090Arg)
n.3416C>G
c.2462C>G (p.Pro821Arg)
c.2849C>G (p.Pro950Arg)
c.2213C>G (p.Pro738Arg)
c.-727C>G (n.-727C>G)
5g.177211668C>TCA362323300NSD1c.2396C>T (p.Pro799Leu)
n.612+7376C>T
n.2852C>T
c.2960C>T (p.Pro987Leu)
n.2666C>T
c.3269C>T (p.Pro1090Leu)
n.3416C>T
c.2462C>T (p.Pro821Leu)
c.2849C>T (p.Pro950Leu)
c.2213C>T (p.Pro738Leu)
c.-727C>T (n.-727C>T)
dbSNP
5g.177211669C>ACA447960970NSD1c.2397C>A (p.Pro799=)
n.612+7377C>A
n.2853C>A
c.2961C>A (p.Pro987=)
n.2667C>A
c.3270C>A (p.Pro1090=)
n.3417C>A
c.2463C>A (p.Pro821=)
c.2850C>A (p.Pro950=)
c.2214C>A (p.Pro738=)
c.-726C>A (n.-726C>A)
dbSNP
5g.177211669C>GCA447960971NSD1c.2397C>G (p.Pro799=)
n.612+7377C>G
n.2853C>G
c.2961C>G (p.Pro987=)
n.2667C>G
c.3270C>G (p.Pro1090=)
n.3417C>G
c.2463C>G (p.Pro821=)
c.2850C>G (p.Pro950=)
c.2214C>G (p.Pro738=)
c.-726C>G (n.-726C>G)
5g.177211669C>TCA447960972NSD1c.2397C>T (p.Pro799=)
n.612+7377C>T
n.2853C>T
c.2961C>T (p.Pro987=)
n.2667C>T
c.3270C>T (p.Pro1090=)
n.3417C>T
c.2463C>T (p.Pro821=)
c.2850C>T (p.Pro950=)
c.2214C>T (p.Pro738=)
c.-726C>T (n.-726C>T)
dbSNP
5g.177211670C>ACA172798NSD1c.2398C>A (p.Leu800Ile)
n.612+7378C>A
n.2854C>A
c.2962C>A (p.Leu988Ile)
n.2668C>A
c.3271C>A (p.Leu1091Ile)
n.3418C>A
c.2464C>A (p.Leu822Ile)
c.2851C>A (p.Leu951Ile)
c.2215C>A (p.Leu739Ile)
c.-725C>A (n.-725C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211670C=CA1603478606NSD1c.2398C= (p.Leu800=)
n.612+7378C=
n.2854C=
c.2962C= (p.Leu988=)
n.2668C=
c.3271C= (p.Leu1091=)
n.3418C=
c.2464C= (p.Leu822=)
c.2851C= (p.Leu951=)
c.2215C= (p.Leu739=)
c.-725C= (n.-725C=)
5g.177211670C>GCA362323308NSD1c.2398C>G (p.Leu800Val)
n.612+7378C>G
n.2854C>G
c.2962C>G (p.Leu988Val)
n.2668C>G
c.3271C>G (p.Leu1091Val)
n.3418C>G
c.2464C>G (p.Leu822Val)
c.2851C>G (p.Leu951Val)
c.2215C>G (p.Leu739Val)
c.-725C>G (n.-725C>G)
5g.177211670C>TCA362323311NSD1c.2398C>T (p.Leu800Phe)
n.612+7378C>T
n.2854C>T
c.2962C>T (p.Leu988Phe)
n.2668C>T
c.3271C>T (p.Leu1091Phe)
n.3418C>T
c.2464C>T (p.Leu822Phe)
c.2851C>T (p.Leu951Phe)
c.2215C>T (p.Leu739Phe)
c.-725C>T (n.-725C>T)
dbSNP
5g.177211671T>ACA362323318NSD1c.2399T>A (p.Leu800His)
n.612+7379T>A
n.2855T>A
c.2963T>A (p.Leu988His)
n.2669T>A
c.3272T>A (p.Leu1091His)
n.3419T>A
c.2465T>A (p.Leu822His)
c.2852T>A (p.Leu951His)
c.2216T>A (p.Leu739His)
c.-724T>A (n.-724T>A)
5g.177211671T>CCA362323323NSD1c.2399T>C (p.Leu800Pro)
n.612+7379T>C
n.2855T>C
c.2963T>C (p.Leu988Pro)
n.2669T>C
c.3272T>C (p.Leu1091Pro)
n.3419T>C
c.2465T>C (p.Leu822Pro)
c.2852T>C (p.Leu951Pro)
c.2216T>C (p.Leu739Pro)
c.-724T>C (n.-724T>C)
5g.177211671T>GCA3577409NSD1c.2399T>G (p.Leu800Arg)
n.612+7379T>G
n.2855T>G
c.2963T>G (p.Leu988Arg)
n.2669T>G
c.3272T>G (p.Leu1091Arg)
n.3419T>G
c.2465T>G (p.Leu822Arg)
c.2852T>G (p.Leu951Arg)
c.2216T>G (p.Leu739Arg)
c.-724T>G (n.-724T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211671T=CA1603478610NSD1c.2399T= (p.Leu800=)
n.612+7379T=
n.2855T=
c.2963T= (p.Leu988=)
n.2669T=
c.3272T= (p.Leu1091=)
n.3419T=
c.2465T= (p.Leu822=)
c.2852T= (p.Leu951=)
c.2216T= (p.Leu739=)
c.-724T= (n.-724T=)
5g.177211672delCA2695202831NSD1c.2400del (p.Gln801ArgfsTer2)
n.612+7380del
n.2856del
c.2964del (p.Gln989ArgfsTer2)
n.2670del
c.3273del (p.Gln1092ArgfsTer2)
n.3420del
c.2466del (p.Gln823ArgfsTer2)
c.2853del (p.Gln952ArgfsTer2)
c.2217del (p.Gln740ArgfsTer2)
c.-723del (n.-723del)
5g.177211672T>ACA447960973NSD1c.2400T>A (p.Leu800=)
n.612+7380T>A
n.2856T>A
c.2964T>A (p.Leu988=)
n.2670T>A
c.3273T>A (p.Leu1091=)
n.3420T>A
c.2466T>A (p.Leu822=)
c.2853T>A (p.Leu951=)
c.2217T>A (p.Leu739=)
c.-723T>A (n.-723T>A)
5g.177211672T>CCA447960974NSD1c.2400T>C (p.Leu800=)
n.612+7380T>C
n.2856T>C
c.2964T>C (p.Leu988=)
n.2670T>C
c.3273T>C (p.Leu1091=)
n.3420T>C
c.2466T>C (p.Leu822=)
c.2853T>C (p.Leu951=)
c.2217T>C (p.Leu739=)
c.-723T>C (n.-723T>C)
5g.177211672T>GCA447960975NSD1c.2400T>G (p.Leu800=)
n.612+7380T>G
n.2856T>G
c.2964T>G (p.Leu988=)
n.2670T>G
c.3273T>G (p.Leu1091=)
n.3420T>G
c.2466T>G (p.Leu822=)
c.2853T>G (p.Leu951=)
c.2217T>G (p.Leu739=)
c.-723T>G (n.-723T>G)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177211672T=CA1603478615NSD1c.2400T= (p.Leu800=)
n.612+7380T=
n.2856T=
c.2964T= (p.Leu988=)
n.2670T=
c.3273T= (p.Leu1091=)
n.3420T=
c.2466T= (p.Leu822=)
c.2853T= (p.Leu951=)
c.2217T= (p.Leu739=)
c.-723T= (n.-723T=)
5g.177211673C>ACA362323331NSD1c.2401C>A (p.Gln801Lys)
n.612+7381C>A
n.2857C>A
c.2965C>A (p.Gln989Lys)
n.2671C>A
c.3274C>A (p.Gln1092Lys)
n.3421C>A
c.2467C>A (p.Gln823Lys)
c.2854C>A (p.Gln952Lys)
c.2218C>A (p.Gln740Lys)
c.-722C>A (n.-722C>A)
5g.177211673C=CA1603478628NSD1c.2401C= (p.Gln801=)
n.612+7381C=
n.2857C=
c.2965C= (p.Gln989=)
n.2671C=
c.3274C= (p.Gln1092=)
n.3421C=
c.2467C= (p.Gln823=)
c.2854C= (p.Gln952=)
c.2218C= (p.Gln740=)
c.-722C= (n.-722C=)
5g.177211673C>GCA362323338NSD1c.2401C>G (p.Gln801Glu)
n.612+7381C>G
n.2857C>G
c.2965C>G (p.Gln989Glu)
n.2671C>G
c.3274C>G (p.Gln1092Glu)
n.3421C>G
c.2467C>G (p.Gln823Glu)
c.2854C>G (p.Gln952Glu)
c.2218C>G (p.Gln740Glu)
c.-722C>G (n.-722C>G)
5g.177211673C>TCA362323333NSD1c.2401C>T (p.Gln801Ter)
n.612+7381C>T
n.2857C>T
c.2965C>T (p.Gln989Ter)
n.2671C>T
c.3274C>T (p.Gln1092Ter)
n.3421C>T
c.2467C>T (p.Gln823Ter)
c.2854C>T (p.Gln952Ter)
c.2218C>T (p.Gln740Ter)
c.-722C>T (n.-722C>T)
ClinVar dbSNP
5g.177211674A>CCA362323342NSD1c.2402A>C (p.Gln801Pro)
n.612+7382A>C
n.2858A>C
c.2966A>C (p.Gln989Pro)
n.2672A>C
c.3275A>C (p.Gln1092Pro)
n.3422A>C
c.2468A>C (p.Gln823Pro)
c.2855A>C (p.Gln952Pro)
c.2219A>C (p.Gln740Pro)
c.-721A>C (n.-721A>C)
5g.177211674A>GCA362323345NSD1c.2402A>G (p.Gln801Arg)
n.612+7382A>G
n.2858A>G
c.2966A>G (p.Gln989Arg)
n.2672A>G
c.3275A>G (p.Gln1092Arg)
n.3422A>G
c.2468A>G (p.Gln823Arg)
c.2855A>G (p.Gln952Arg)
c.2219A>G (p.Gln740Arg)
c.-721A>G (n.-721A>G)
ClinVar
5g.177211674A>TCA362323348NSD1c.2402A>T (p.Gln801Leu)
n.612+7382A>T
n.2858A>T
c.2966A>T (p.Gln989Leu)
n.2672A>T
c.3275A>T (p.Gln1092Leu)
n.3422A>T
c.2468A>T (p.Gln823Leu)
c.2855A>T (p.Gln952Leu)
c.2219A>T (p.Gln740Leu)
c.-721A>T (n.-721A>T)
5g.177211675G>ACA447960976NSD1c.2403G>A (p.Gln801=)
n.612+7383G>A
n.2859G>A
c.2967G>A (p.Gln989=)
n.2673G>A
c.3276G>A (p.Gln1092=)
n.3423G>A
c.2469G>A (p.Gln823=)
c.2856G>A (p.Gln952=)
c.2220G>A (p.Gln740=)
c.-720G>A (n.-720G>A)
5g.177211675G>CCA362323351NSD1c.2403G>C (p.Gln801His)
n.612+7383G>C
n.2859G>C
c.2967G>C (p.Gln989His)
n.2673G>C
c.3276G>C (p.Gln1092His)
n.3423G>C
c.2469G>C (p.Gln823His)
c.2856G>C (p.Gln952His)
c.2220G>C (p.Gln740His)
c.-720G>C (n.-720G>C)
gnomAD v4 COSMIC COSMIC
5g.177211675G>TCA362323352NSD1c.2403G>T (p.Gln801His)
n.612+7383G>T
n.2859G>T
c.2967G>T (p.Gln989His)
n.2673G>T
c.3276G>T (p.Gln1092His)
n.3423G>T
c.2469G>T (p.Gln823His)
c.2856G>T (p.Gln952His)
c.2220G>T (p.Gln740His)
c.-720G>T (n.-720G>T)
5g.177211676A=CA1603478633NSD1c.2404A= (p.Ile802=)
n.612+7384A=
n.2860A=
c.2968A= (p.Ile990=)
n.2674A=
c.3277A= (p.Ile1093=)
n.3424A=
c.2470A= (p.Ile824=)
c.2857A= (p.Ile953=)
c.2221A= (p.Ile741=)
c.-719A= (n.-719A=)
5g.177211676A>CCA362323356NSD1c.2404A>C (p.Ile802Leu)
n.612+7384A>C
n.2860A>C
c.2968A>C (p.Ile990Leu)
n.2674A>C
c.3277A>C (p.Ile1093Leu)
n.3424A>C
c.2470A>C (p.Ile824Leu)
c.2857A>C (p.Ile953Leu)
c.2221A>C (p.Ile741Leu)
c.-719A>C (n.-719A>C)
ClinVar
5g.177211676A>GCA362323359NSD1c.2404A>G (p.Ile802Val)
n.612+7384A>G
n.2860A>G
c.2968A>G (p.Ile990Val)
n.2674A>G
c.3277A>G (p.Ile1093Val)
n.3424A>G
c.2470A>G (p.Ile824Val)
c.2857A>G (p.Ile953Val)
c.2221A>G (p.Ile741Val)
c.-719A>G (n.-719A>G)
dbSNP
5g.177211676A>TCA362323361NSD1c.2404A>T (p.Ile802Leu)
n.612+7384A>T
n.2860A>T
c.2968A>T (p.Ile990Leu)
n.2674A>T
c.3277A>T (p.Ile1093Leu)
n.3424A>T
c.2470A>T (p.Ile824Leu)
c.2857A>T (p.Ile953Leu)
c.2221A>T (p.Ile741Leu)
c.-719A>T (n.-719A>T)
5g.177211677T>ACA362323369NSD1c.2405T>A (p.Ile802Lys)
n.612+7385T>A
n.2861T>A
c.2969T>A (p.Ile990Lys)
n.2675T>A
c.3278T>A (p.Ile1093Lys)
n.3425T>A
c.2471T>A (p.Ile824Lys)
c.2858T>A (p.Ile953Lys)
c.2222T>A (p.Ile741Lys)
c.-718T>A (n.-718T>A)
5g.177211677T>CCA362323374NSD1c.2405T>C (p.Ile802Thr)
n.612+7385T>C
n.2861T>C
c.2969T>C (p.Ile990Thr)
n.2675T>C
c.3278T>C (p.Ile1093Thr)
n.3425T>C
c.2471T>C (p.Ile824Thr)
c.2858T>C (p.Ile953Thr)
c.2222T>C (p.Ile741Thr)
c.-718T>C (n.-718T>C)
5g.177211677T>GCA362323378NSD1c.2405T>G (p.Ile802Arg)
n.612+7385T>G
n.2861T>G
c.2969T>G (p.Ile990Arg)
n.2675T>G
c.3278T>G (p.Ile1093Arg)
n.3425T>G
c.2471T>G (p.Ile824Arg)
c.2858T>G (p.Ile953Arg)
c.2222T>G (p.Ile741Arg)
c.-718T>G (n.-718T>G)
5g.177211678A>CCA447960977NSD1c.2406A>C (p.Ile802=)
n.612+7386A>C
n.2862A>C
c.2970A>C (p.Ile990=)
n.2676A>C
c.3279A>C (p.Ile1093=)
n.3426A>C
c.2472A>C (p.Ile824=)
c.2859A>C (p.Ile953=)
c.2223A>C (p.Ile741=)
c.-717A>C (n.-717A>C)
5g.177211678A>GCA362323380NSD1c.2406A>G (p.Ile802Met)
n.612+7386A>G
n.2862A>G
c.2970A>G (p.Ile990Met)
n.2676A>G
c.3279A>G (p.Ile1093Met)
n.3426A>G
c.2472A>G (p.Ile824Met)
c.2859A>G (p.Ile953Met)
c.2223A>G (p.Ile741Met)
c.-717A>G (n.-717A>G)
gnomAD v4
5g.177211678A>TCA447960978NSD1c.2406A>T (p.Ile802=)
n.612+7386A>T
n.2862A>T
c.2970A>T (p.Ile990=)
n.2676A>T
c.3279A>T (p.Ile1093=)
n.3426A>T
c.2472A>T (p.Ile824=)
c.2859A>T (p.Ile953=)
c.2223A>T (p.Ile741=)
c.-717A>T (n.-717A>T)
5g.177211679dupCA2695202833NSD1c.2407dup (p.Met803AsnfsTer7)
n.612+7387dup
n.2863dup
c.2971dup (p.Met991AsnfsTer7)
n.2677dup
c.3280dup (p.Met1094AsnfsTer7)
n.3427dup
c.2473dup (p.Met825AsnfsTer7)
c.2860dup (p.Met954AsnfsTer7)
c.2224dup (p.Met742AsnfsTer7)
c.-716dup (n.-716dup)
5g.177211679A>CCA362323386NSD1c.2407A>C (p.Met803Leu)
n.612+7387A>C
n.2863A>C
c.2971A>C (p.Met991Leu)
n.2677A>C
c.3280A>C (p.Met1094Leu)
n.3427A>C
c.2473A>C (p.Met825Leu)
c.2860A>C (p.Met954Leu)
c.2224A>C (p.Met742Leu)
c.-716A>C (n.-716A>C)
5g.177211679A>GCA362323391NSD1c.2407A>G (p.Met803Val)
n.612+7387A>G
n.2863A>G
c.2971A>G (p.Met991Val)
n.2677A>G
c.3280A>G (p.Met1094Val)
n.3427A>G
c.2473A>G (p.Met825Val)
c.2860A>G (p.Met954Val)
c.2224A>G (p.Met742Val)
c.-716A>G (n.-716A>G)
5g.177211679A>TCA362323389NSD1c.2407A>T (p.Met803Leu)
n.612+7387A>T
n.2863A>T
c.2971A>T (p.Met991Leu)
n.2677A>T
c.3280A>T (p.Met1094Leu)
n.3427A>T
c.2473A>T (p.Met825Leu)
c.2860A>T (p.Met954Leu)
c.2224A>T (p.Met742Leu)
c.-716A>T (n.-716A>T)
5g.177211680T>ACA362323396NSD1c.2408T>A (p.Met803Lys)
n.612+7388T>A
n.2864T>A
c.2972T>A (p.Met991Lys)
n.2678T>A
c.3281T>A (p.Met1094Lys)
n.3428T>A
c.2474T>A (p.Met825Lys)
c.2861T>A (p.Met954Lys)
c.2225T>A (p.Met742Lys)
c.-715T>A (n.-715T>A)
5g.177211680T>CCA3577410NSD1c.2408T>C (p.Met803Thr)
n.612+7388T>C
n.2864T>C
c.2972T>C (p.Met991Thr)
n.2678T>C
c.3281T>C (p.Met1094Thr)
n.3428T>C
c.2474T>C (p.Met825Thr)
c.2861T>C (p.Met954Thr)
c.2225T>C (p.Met742Thr)
c.-715T>C (n.-715T>C)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177211680T>GCA362323401NSD1c.2408T>G (p.Met803Arg)
n.612+7388T>G
n.2864T>G
c.2972T>G (p.Met991Arg)
n.2678T>G
c.3281T>G (p.Met1094Arg)
n.3428T>G
c.2474T>G (p.Met825Arg)
c.2861T>G (p.Met954Arg)
c.2225T>G (p.Met742Arg)
c.-715T>G (n.-715T>G)
5g.177211680T=CA1603478638NSD1c.2408T= (p.Met803=)
n.612+7388T=
n.2864T=
c.2972T= (p.Met991=)
n.2678T=
c.3281T= (p.Met1094=)
n.3428T=
c.2474T= (p.Met825=)
c.2861T= (p.Met954=)
c.2225T= (p.Met742=)
c.-715T= (n.-715T=)
5g.177211681G>ACA132831250NSD1c.2409G>A (p.Met803Ile)
n.612+7389G>A
n.2865G>A
c.2973G>A (p.Met991Ile)
n.2679G>A
c.3282G>A (p.Met1094Ile)
n.3429G>A
c.2475G>A (p.Met825Ile)
c.2862G>A (p.Met954Ile)
c.2226G>A (p.Met742Ile)
c.-714G>A (n.-714G>A)
dbSNP gnomAD v4
5g.177211681G>CCA362323408NSD1c.2409G>C (p.Met803Ile)
n.612+7389G>C
n.2865G>C
c.2973G>C (p.Met991Ile)
n.2679G>C
c.3282G>C (p.Met1094Ile)
n.3429G>C
c.2475G>C (p.Met825Ile)
c.2862G>C (p.Met954Ile)
c.2226G>C (p.Met742Ile)
c.-714G>C (n.-714G>C)
5g.177211681G=CA1603478647NSD1c.2409G= (p.Met803=)
n.612+7389G=
n.2865G=
c.2973G= (p.Met991=)
n.2679G=
c.3282G= (p.Met1094=)
n.3429G=
c.2475G= (p.Met825=)
c.2862G= (p.Met954=)
c.2226G= (p.Met742=)
c.-714G= (n.-714G=)
5g.177211681G>TCA362323411NSD1c.2409G>T (p.Met803Ile)
n.612+7389G>T
n.2865G>T
c.2973G>T (p.Met991Ile)
n.2679G>T
c.3282G>T (p.Met1094Ile)
n.3429G>T
c.2475G>T (p.Met825Ile)
c.2862G>T (p.Met954Ile)
c.2226G>T (p.Met742Ile)
c.-714G>T (n.-714G>T)
dbSNP
5g.177211683delCA2695202834NSD1c.2411del (p.Gly804AlafsTer3)
n.612+7391del
n.2867del
c.2975del (p.Gly992AlafsTer3)
n.2681del
c.3284del (p.Gly1095AlafsTer3)
n.3431del
c.2477del (p.Gly826AlafsTer3)
c.2864del (p.Gly955AlafsTer3)
c.2228del (p.Gly743AlafsTer3)
c.-712del (n.-712del)
5g.177211681_177211682insATTCA2676687585NSD1c.2409_2410insATT (p.Met803_Gly804insIle)
n.612+7389_612+7390insATT
n.2865_2866insATT
c.2973_2974insATT (p.Met991_Gly992insIle)
n.2679_2680insATT
c.3282_3283insATT (p.Met1094_Gly1095insIle)
n.3429_3430insATT
c.2475_2476insATT (p.Met825_Gly826insIle)
c.2862_2863insATT (p.Met954_Gly955insIle)
c.2226_2227insATT (p.Met742_Gly743insIle)
c.-714_-713insATT (n.-714_-713insATT)
gnomAD v4
5g.177211682G>ACA362323414NSD1c.2410G>A (p.Gly804Ser)
n.612+7390G>A
n.2866G>A
c.2974G>A (p.Gly992Ser)
n.2680G>A
c.3283G>A (p.Gly1095Ser)
n.3430G>A
c.2476G>A (p.Gly826Ser)
c.2863G>A (p.Gly955Ser)
c.2227G>A (p.Gly743Ser)
c.-713G>A (n.-713G>A)
gnomAD v4
5g.177211682G>CCA362323417NSD1c.2410G>C (p.Gly804Arg)
n.612+7390G>C
n.2866G>C
c.2974G>C (p.Gly992Arg)
n.2680G>C
c.3283G>C (p.Gly1095Arg)
n.3430G>C
c.2476G>C (p.Gly826Arg)
c.2863G>C (p.Gly955Arg)
c.2227G>C (p.Gly743Arg)
c.-713G>C (n.-713G>C)
5g.177211682G>TCA362323419NSD1c.2410G>T (p.Gly804Cys)
n.612+7390G>T
n.2866G>T
c.2974G>T (p.Gly992Cys)
n.2680G>T
c.3283G>T (p.Gly1095Cys)
n.3430G>T
c.2476G>T (p.Gly826Cys)
c.2863G>T (p.Gly955Cys)
c.2227G>T (p.Gly743Cys)
c.-713G>T (n.-713G>T)
5g.177211683G>ACA362323426NSD1c.2411G>A (p.Gly804Asp)
n.612+7391G>A
n.2867G>A
c.2975G>A (p.Gly992Asp)
n.2681G>A
c.3284G>A (p.Gly1095Asp)
n.3431G>A
c.2477G>A (p.Gly826Asp)
c.2864G>A (p.Gly955Asp)
c.2228G>A (p.Gly743Asp)
c.-712G>A (n.-712G>A)
dbSNP gnomAD v4
5g.177211683G>CCA362323427NSD1c.2411G>C (p.Gly804Ala)
n.612+7391G>C
n.2867G>C
c.2975G>C (p.Gly992Ala)
n.2681G>C
c.3284G>C (p.Gly1095Ala)
n.3431G>C
c.2477G>C (p.Gly826Ala)
c.2864G>C (p.Gly955Ala)
c.2228G>C (p.Gly743Ala)
c.-712G>C (n.-712G>C)
5g.177211683G=CA1603478659NSD1c.2411G= (p.Gly804=)
n.612+7391G=
n.2867G=
c.2975G= (p.Gly992=)
n.2681G=
c.3284G= (p.Gly1095=)
n.3431G=
c.2477G= (p.Gly826=)
c.2864G= (p.Gly955=)
c.2228G= (p.Gly743=)
c.-712G= (n.-712G=)
5g.177211683G>TCA362323425NSD1c.2411G>T (p.Gly804Val)
n.612+7391G>T
n.2867G>T
c.2975G>T (p.Gly992Val)
n.2681G>T
c.3284G>T (p.Gly1095Val)
n.3431G>T
c.2477G>T (p.Gly826Val)
c.2864G>T (p.Gly955Val)
c.2228G>T (p.Gly743Val)
c.-712G>T (n.-712G>T)
dbSNP gnomAD v3 gnomAD v4
5g.177211684C>ACA447960979NSD1c.2412C>A (p.Gly804=)
n.612+7392C>A
n.2868C>A
c.2976C>A (p.Gly992=)
n.2682C>A
c.3285C>A (p.Gly1095=)
n.3432C>A
c.2478C>A (p.Gly826=)
c.2865C>A (p.Gly955=)
c.2229C>A (p.Gly743=)
c.-711C>A (n.-711C>A)
5g.177211684C=CA1603478664NSD1c.2412C= (p.Gly804=)
n.612+7392C=
n.2868C=
c.2976C= (p.Gly992=)
n.2682C=
c.3285C= (p.Gly1095=)
n.3432C=
c.2478C= (p.Gly826=)
c.2865C= (p.Gly955=)
c.2229C= (p.Gly743=)
c.-711C= (n.-711C=)
5g.177211684C>GCA447960980NSD1c.2412C>G (p.Gly804=)
n.612+7392C>G
n.2868C>G
c.2976C>G (p.Gly992=)
n.2682C>G
c.3285C>G (p.Gly1095=)
n.3432C>G
c.2478C>G (p.Gly826=)
c.2865C>G (p.Gly955=)
c.2229C>G (p.Gly743=)
c.-711C>G (n.-711C>G)
5g.177211684C>TCA447960981NSD1c.2412C>T (p.Gly804=)
n.612+7392C>T
n.2868C>T
c.2976C>T (p.Gly992=)
n.2682C>T
c.3285C>T (p.Gly1095=)
n.3432C>T
c.2478C>T (p.Gly826=)
c.2865C>T (p.Gly955=)
c.2229C>T (p.Gly743=)
c.-711C>T (n.-711C>T)
dbSNP gnomAD v4
5g.177211685C>ACA362323428NSD1c.2413C>A (p.His805Asn)
n.612+7393C>A
n.2869C>A
c.2977C>A (p.His993Asn)
n.2683C>A
c.3286C>A (p.His1096Asn)
n.3433C>A
c.2479C>A (p.His827Asn)
c.2866C>A (p.His956Asn)
c.2230C>A (p.His744Asn)
c.-710C>A (n.-710C>A)
5g.177211685C=CA1603478668NSD1c.2413C= (p.His805=)
n.612+7393C=
n.2869C=
c.2977C= (p.His993=)
n.2683C=
c.3286C= (p.His1096=)
n.3433C=
c.2479C= (p.His827=)
c.2866C= (p.His956=)
c.2230C= (p.His744=)
c.-710C= (n.-710C=)
5g.177211685C>GCA362323429NSD1c.2413C>G (p.His805Asp)
n.612+7393C>G
n.2869C>G
c.2977C>G (p.His993Asp)
n.2683C>G
c.3286C>G (p.His1096Asp)
n.3433C>G
c.2479C>G (p.His827Asp)
c.2866C>G (p.His956Asp)
c.2230C>G (p.His744Asp)
c.-710C>G (n.-710C>G)
5g.177211685C>TCA3577411NSD1c.2413C>T (p.His805Tyr)
n.612+7393C>T
n.2869C>T
c.2977C>T (p.His993Tyr)
n.2683C>T
c.3286C>T (p.His1096Tyr)
n.3433C>T
c.2479C>T (p.His827Tyr)
c.2866C>T (p.His956Tyr)
c.2230C>T (p.His744Tyr)
c.-710C>T (n.-710C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211686A>CCA362323433NSD1c.2414A>C (p.His805Pro)
n.612+7394A>C
n.2870A>C
c.2978A>C (p.His993Pro)
n.2684A>C
c.3287A>C (p.His1096Pro)
n.3434A>C
c.2480A>C (p.His827Pro)
c.2867A>C (p.His956Pro)
c.2231A>C (p.His744Pro)
c.-709A>C (n.-709A>C)
5g.177211686A>GCA362323437NSD1c.2414A>G (p.His805Arg)
n.612+7394A>G
n.2870A>G
c.2978A>G (p.His993Arg)
n.2684A>G
c.3287A>G (p.His1096Arg)
n.3434A>G
c.2480A>G (p.His827Arg)
c.2867A>G (p.His956Arg)
c.2231A>G (p.His744Arg)
c.-709A>G (n.-709A>G)
5g.177211686A>TCA362323440NSD1c.2414A>T (p.His805Leu)
n.612+7394A>T
n.2870A>T
c.2978A>T (p.His993Leu)
n.2684A>T
c.3287A>T (p.His1096Leu)
n.3434A>T
c.2480A>T (p.His827Leu)
c.2867A>T (p.His956Leu)
c.2231A>T (p.His744Leu)
c.-709A>T (n.-709A>T)
5g.177211687C>ACA362323441NSD1c.2415C>A (p.His805Gln)
n.612+7395C>A
n.2871C>A
c.2979C>A (p.His993Gln)
n.2685C>A
c.3288C>A (p.His1096Gln)
n.3435C>A
c.2481C>A (p.His827Gln)
c.2868C>A (p.His956Gln)
c.2232C>A (p.His744Gln)
c.-708C>A (n.-708C>A)
gnomAD v4
5g.177211687C=CA1603478672NSD1c.2415C= (p.His805=)
n.612+7395C=
n.2871C=
c.2979C= (p.His993=)
n.2685C=
c.3288C= (p.His1096=)
n.3435C=
c.2481C= (p.His827=)
c.2868C= (p.His956=)
c.2232C= (p.His744=)
c.-708C= (n.-708C=)
5g.177211687C>GCA362323442NSD1c.2415C>G (p.His805Gln)
n.612+7395C>G
n.2871C>G
c.2979C>G (p.His993Gln)
n.2685C>G
c.3288C>G (p.His1096Gln)
n.3435C>G
c.2481C>G (p.His827Gln)
c.2868C>G (p.His956Gln)
c.2232C>G (p.His744Gln)
c.-708C>G (n.-708C>G)
dbSNP
5g.177211687C>TCA447960984NSD1c.2415C>T (p.His805=)
n.612+7395C>T
n.2871C>T
c.2979C>T (p.His993=)
n.2685C>T
c.3288C>T (p.His1096=)
n.3435C>T
c.2481C>T (p.His827=)
c.2868C>T (p.His956=)
c.2232C>T (p.His744=)
c.-708C>T (n.-708C>T)
dbSNP
5g.177211688T>ACA362323444NSD1c.2416T>A (p.Leu806Ile)
n.612+7396T>A
n.2872T>A
c.2980T>A (p.Leu994Ile)
n.2686T>A
c.3289T>A (p.Leu1097Ile)
n.3436T>A
c.2482T>A (p.Leu828Ile)
c.2869T>A (p.Leu957Ile)
c.2233T>A (p.Leu745Ile)
c.-707T>A (n.-707T>A)
5g.177211688T>CCA447960985NSD1c.2416T>C (p.Leu806=)
n.612+7396T>C
n.2872T>C
c.2980T>C (p.Leu994=)
n.2686T>C
c.3289T>C (p.Leu1097=)
n.3436T>C
c.2482T>C (p.Leu828=)
c.2869T>C (p.Leu957=)
c.2233T>C (p.Leu745=)
c.-707T>C (n.-707T>C)
gnomAD v4
5g.177211688T>GCA362323446NSD1c.2416T>G (p.Leu806Val)
n.612+7396T>G
n.2872T>G
c.2980T>G (p.Leu994Val)
n.2686T>G
c.3289T>G (p.Leu1097Val)
n.3436T>G
c.2482T>G (p.Leu828Val)
c.2869T>G (p.Leu957Val)
c.2233T>G (p.Leu745Val)
c.-707T>G (n.-707T>G)
dbSNP gnomAD v3 gnomAD v4
5g.177211688T=CA1603478676NSD1c.2416T= (p.Leu806=)
n.612+7396T=
n.2872T=
c.2980T= (p.Leu994=)
n.2686T=
c.3289T= (p.Leu1097=)
n.3436T=
c.2482T= (p.Leu828=)
c.2869T= (p.Leu957=)
c.2233T= (p.Leu745=)
c.-707T= (n.-707T=)
5g.177211689T>ACA362323449NSD1c.2417T>A (p.Leu806Ter)
n.612+7397T>A
n.2873T>A
c.2981T>A (p.Leu994Ter)
n.2687T>A
c.3290T>A (p.Leu1097Ter)
n.3437T>A
c.2483T>A (p.Leu828Ter)
c.2870T>A (p.Leu957Ter)
c.2234T>A (p.Leu745Ter)
c.-706T>A (n.-706T>A)
ClinVar dbSNP
5g.177211689T>CCA362323452NSD1c.2417T>C (p.Leu806Ser)
n.612+7397T>C
n.2873T>C
c.2981T>C (p.Leu994Ser)
n.2687T>C
c.3290T>C (p.Leu1097Ser)
n.3437T>C
c.2483T>C (p.Leu828Ser)
c.2870T>C (p.Leu957Ser)
c.2234T>C (p.Leu745Ser)
c.-706T>C (n.-706T>C)
5g.177211689T>GCA362323454NSD1c.2417T>G (p.Leu806Ter)
n.612+7397T>G
n.2873T>G
c.2981T>G (p.Leu994Ter)
n.2687T>G
c.3290T>G (p.Leu1097Ter)
n.3437T>G
c.2483T>G (p.Leu828Ter)
c.2870T>G (p.Leu957Ter)
c.2234T>G (p.Leu745Ter)
c.-706T>G (n.-706T>G)
5g.177211689T=CA1603478681NSD1c.2417T= (p.Leu806=)
n.612+7397T=
n.2873T=
c.2981T= (p.Leu994=)
n.2687T=
c.3290T= (p.Leu1097=)
n.3437T=
c.2483T= (p.Leu828=)
c.2870T= (p.Leu957=)
c.2234T= (p.Leu745=)
c.-706T= (n.-706T=)
5g.177211690A>CCA362323460NSD1c.2418A>C (p.Leu806Phe)
n.612+7398A>C
n.2874A>C
c.2982A>C (p.Leu994Phe)
n.2688A>C
c.3291A>C (p.Leu1097Phe)
n.3438A>C
c.2484A>C (p.Leu828Phe)
c.2871A>C (p.Leu957Phe)
c.2235A>C (p.Leu745Phe)
c.-705A>C (n.-705A>C)
5g.177211690A>GCA447960987NSD1c.2418A>G (p.Leu806=)
n.612+7398A>G
n.2874A>G
c.2982A>G (p.Leu994=)
n.2688A>G
c.3291A>G (p.Leu1097=)
n.3438A>G
c.2484A>G (p.Leu828=)
c.2871A>G (p.Leu957=)
c.2235A>G (p.Leu745=)
c.-705A>G (n.-705A>G)
5g.177211690A>TCA362323459NSD1c.2418A>T (p.Leu806Phe)
n.612+7398A>T
n.2874A>T
c.2982A>T (p.Leu994Phe)
n.2688A>T
c.3291A>T (p.Leu1097Phe)
n.3438A>T
c.2484A>T (p.Leu828Phe)
c.2871A>T (p.Leu957Phe)
c.2235A>T (p.Leu745Phe)
c.-705A>T (n.-705A>T)
5g.177211691dupCA2695202835NSD1c.2419dup (p.Thr807AsnfsTer3)
n.612+7399dup
n.2875dup
c.2983dup (p.Thr995AsnfsTer3)
n.2689dup
c.3292dup (p.Thr1098AsnfsTer3)
n.3439dup
c.2485dup (p.Thr829AsnfsTer3)
c.2872dup (p.Thr958AsnfsTer3)
c.2236dup (p.Thr746AsnfsTer3)
c.-704dup (n.-704dup)
5g.177211691A=CA1603478689NSD1c.2419A= (p.Thr807=)
n.612+7399A=
n.2875A=
c.2983A= (p.Thr995=)
n.2689A=
c.3292A= (p.Thr1098=)
n.3439A=
c.2485A= (p.Thr829=)
c.2872A= (p.Thr958=)
c.2236A= (p.Thr746=)
c.-704A= (n.-704A=)
5g.177211691A>CCA362323463NSD1c.2419A>C (p.Thr807Pro)
n.612+7399A>C
n.2875A>C
c.2983A>C (p.Thr995Pro)
n.2689A>C
c.3292A>C (p.Thr1098Pro)
n.3439A>C
c.2485A>C (p.Thr829Pro)
c.2872A>C (p.Thr958Pro)
c.2236A>C (p.Thr746Pro)
c.-704A>C (n.-704A>C)
5g.177211691A>GCA3577412NSD1c.2419A>G (p.Thr807Ala)
n.612+7399A>G
n.2875A>G
c.2983A>G (p.Thr995Ala)
n.2689A>G
c.3292A>G (p.Thr1098Ala)
n.3439A>G
c.2485A>G (p.Thr829Ala)
c.2872A>G (p.Thr958Ala)
c.2236A>G (p.Thr746Ala)
c.-704A>G (n.-704A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211691A>TCA362323466NSD1c.2419A>T (p.Thr807Ser)
n.612+7399A>T
n.2875A>T
c.2983A>T (p.Thr995Ser)
n.2689A>T
c.3292A>T (p.Thr1098Ser)
n.3439A>T
c.2485A>T (p.Thr829Ser)
c.2872A>T (p.Thr958Ser)
c.2236A>T (p.Thr746Ser)
c.-704A>T (n.-704A>T)
5g.177211691_177211692delinsACCA1603478690NSD1c.2419_2420delinsAC (p.Thr807=)
n.612+7399_612+7400delinsAC
n.2875_2876delinsAC
c.2983_2984delinsAC (p.Thr995=)
n.2689_2690delinsAC
c.3292_3293delinsAC (p.Thr1098=)
n.3439_3440delinsAC
c.2485_2486delinsAC (p.Thr829=)
c.2872_2873delinsAC (p.Thr958=)
c.2236_2237delinsAC (p.Thr746=)
c.-704_-703delinsAC (n.-704_-703delinsAC)
5g.177211692delCA294849NSD1c.2420del (p.Thr807LysfsTer?)
n.612+7400del
n.2876del
c.2984del (p.Thr995LysfsTer?)
n.2690del
c.3293del (p.Thr1098LysfsTer?)
n.3440del
c.2486del (p.Thr829LysfsTer?)
c.2873del (p.Thr958LysfsTer?)
c.2237del (p.Thr746LysfsTer?)
c.-703del (n.-703del)
ClinVar dbSNP
5g.177211692C>ACA362323473NSD1c.2420C>A (p.Thr807Lys)
n.612+7400C>A
n.2876C>A
c.2984C>A (p.Thr995Lys)
n.2690C>A
c.3293C>A (p.Thr1098Lys)
n.3440C>A
c.2486C>A (p.Thr829Lys)
c.2873C>A (p.Thr958Lys)
c.2237C>A (p.Thr746Lys)
c.-703C>A (n.-703C>A)
5g.177211692C>GCA362323474NSD1c.2420C>G (p.Thr807Arg)
n.612+7400C>G
n.2876C>G
c.2984C>G (p.Thr995Arg)
n.2690C>G
c.3293C>G (p.Thr1098Arg)
n.3440C>G
c.2486C>G (p.Thr829Arg)
c.2873C>G (p.Thr958Arg)
c.2237C>G (p.Thr746Arg)
c.-703C>G (n.-703C>G)
dbSNP
5g.177211692C>TCA362323475NSD1c.2420C>T (p.Thr807Ile)
n.612+7400C>T
n.2876C>T
c.2984C>T (p.Thr995Ile)
n.2690C>T
c.3293C>T (p.Thr1098Ile)
n.3440C>T
c.2486C>T (p.Thr829Ile)
c.2873C>T (p.Thr958Ile)
c.2237C>T (p.Thr746Ile)
c.-703C>T (n.-703C>T)
5g.177211692_177211693delinsCACA1603478695NSD1c.2420_2421delinsCA (p.Thr807=)
n.612+7400_612+7401delinsCA
n.2876_2877delinsCA
c.2984_2985delinsCA (p.Thr995=)
n.2690_2691delinsCA
c.3293_3294delinsCA (p.Thr1098=)
n.3440_3441delinsCA
c.2486_2487delinsCA (p.Thr829=)
c.2873_2874delinsCA (p.Thr958=)
c.2237_2238delinsCA (p.Thr746=)
c.-703_-702delinsCA (n.-703_-702delinsCA)
5g.177211693A=CA1603478698NSD1c.2421A= (p.Thr807=)
n.612+7401A=
n.2877A=
c.2985A= (p.Thr995=)
n.2691A=
c.3294A= (p.Thr1098=)
n.3441A=
c.2487A= (p.Thr829=)
c.2874A= (p.Thr958=)
c.2238A= (p.Thr746=)
c.-702A= (n.-702A=)
5g.177211693A>CCA447960990NSD1c.2421A>C (p.Thr807=)
n.612+7401A>C
n.2877A>C
c.2985A>C (p.Thr995=)
n.2691A>C
c.3294A>C (p.Thr1098=)
n.3441A>C
c.2487A>C (p.Thr829=)
c.2874A>C (p.Thr958=)
c.2238A>C (p.Thr746=)
c.-702A>C (n.-702A>C)
5g.177211693A>GCA447960991NSD1c.2421A>G (p.Thr807=)
n.612+7401A>G
n.2877A>G
c.2985A>G (p.Thr995=)
n.2691A>G
c.3294A>G (p.Thr1098=)
n.3441A>G
c.2487A>G (p.Thr829=)
c.2874A>G (p.Thr958=)
c.2238A>G (p.Thr746=)
c.-702A>G (n.-702A>G)
dbSNP gnomAD v3 gnomAD v4
5g.177211693A>TCA447960992NSD1c.2421A>T (p.Thr807=)
n.612+7401A>T
n.2877A>T
c.2985A>T (p.Thr995=)
n.2691A>T
c.3294A>T (p.Thr1098=)
n.3441A>T
c.2487A>T (p.Thr829=)
c.2874A>T (p.Thr958=)
c.2238A>T (p.Thr746=)
c.-702A>T (n.-702A>T)
5g.177211694delCA294850NSD1c.2422del (p.Ser808ValfsTer?)
n.612+7402del
n.2878del
c.2986del (p.Ser996ValfsTer?)
n.2692del
c.3295del (p.Ser1099ValfsTer?)
n.3442del
c.2488del (p.Ser830ValfsTer?)
c.2875del (p.Ser959ValfsTer?)
c.2239del (p.Ser747ValfsTer?)
c.-701del (n.-701del)
ClinVar dbSNP
5g.177211694A=CA1603478700NSD1c.2422A= (p.Ser808=)
n.612+7402A=
n.2878A=
c.2986A= (p.Ser996=)
n.2692A=
c.3295A= (p.Ser1099=)
n.3442A=
c.2488A= (p.Ser830=)
c.2875A= (p.Ser959=)
c.2239A= (p.Ser747=)
c.-701A= (n.-701A=)
5g.177211694A>CCA362323486NSD1c.2422A>C (p.Ser808Arg)
n.612+7402A>C
n.2878A>C
c.2986A>C (p.Ser996Arg)
n.2692A>C
c.3295A>C (p.Ser1099Arg)
n.3442A>C
c.2488A>C (p.Ser830Arg)
c.2875A>C (p.Ser959Arg)
c.2239A>C (p.Ser747Arg)
c.-701A>C (n.-701A>C)
gnomAD v4
5g.177211694A>GCA362323487NSD1c.2422A>G (p.Ser808Gly)
n.612+7402A>G
n.2878A>G
c.2986A>G (p.Ser996Gly)
n.2692A>G
c.3295A>G (p.Ser1099Gly)
n.3442A>G
c.2488A>G (p.Ser830Gly)
c.2875A>G (p.Ser959Gly)
c.2239A>G (p.Ser747Gly)
c.-701A>G (n.-701A>G)
dbSNP gnomAD v4
5g.177211694A>TCA362323489NSD1c.2422A>T (p.Ser808Cys)
n.612+7402A>T
n.2878A>T
c.2986A>T (p.Ser996Cys)
n.2692A>T
c.3295A>T (p.Ser1099Cys)
n.3442A>T
c.2488A>T (p.Ser830Cys)
c.2875A>T (p.Ser959Cys)
c.2239A>T (p.Ser747Cys)
c.-701A>T (n.-701A>T)
dbSNP gnomAD v4
5g.177211695G>ACA362323491NSD1c.2423G>A (p.Ser808Asn)
n.612+7403G>A
n.2879G>A
c.2987G>A (p.Ser996Asn)
n.2693G>A
c.3296G>A (p.Ser1099Asn)
n.3443G>A
c.2489G>A (p.Ser830Asn)
c.2876G>A (p.Ser959Asn)
c.2240G>A (p.Ser747Asn)
c.-700G>A (n.-700G>A)
5g.177211695G>CCA362323494NSD1c.2423G>C (p.Ser808Thr)
n.612+7403G>C
n.2879G>C
c.2987G>C (p.Ser996Thr)
n.2693G>C
c.3296G>C (p.Ser1099Thr)
n.3443G>C
c.2489G>C (p.Ser830Thr)
c.2876G>C (p.Ser959Thr)
c.2240G>C (p.Ser747Thr)
c.-700G>C (n.-700G>C)
5g.177211695G>TCA362323500NSD1c.2423G>T (p.Ser808Ile)
n.612+7403G>T
n.2879G>T
c.2987G>T (p.Ser996Ile)
n.2693G>T
c.3296G>T (p.Ser1099Ile)
n.3443G>T
c.2489G>T (p.Ser830Ile)
c.2876G>T (p.Ser959Ile)
c.2240G>T (p.Ser747Ile)
c.-700G>T (n.-700G>T)
5g.177211696T>ACA362323503NSD1c.2424T>A (p.Ser808Arg)
n.612+7404T>A
n.2880T>A
c.2988T>A (p.Ser996Arg)
n.2694T>A
c.3297T>A (p.Ser1099Arg)
n.3444T>A
c.2490T>A (p.Ser830Arg)
c.2877T>A (p.Ser959Arg)
c.2241T>A (p.Ser747Arg)
c.-699T>A (n.-699T>A)
dbSNP
5g.177211696T>CCA447961057NSD1c.2424T>C (p.Ser808=)
n.612+7404T>C
n.2880T>C
c.2988T>C (p.Ser996=)
n.2694T>C
c.3297T>C (p.Ser1099=)
n.3444T>C
c.2490T>C (p.Ser830=)
c.2877T>C (p.Ser959=)
c.2241T>C (p.Ser747=)
c.-699T>C (n.-699T>C)
5g.177211696T>GCA362323504NSD1c.2424T>G (p.Ser808Arg)
n.612+7404T>G
n.2880T>G
c.2988T>G (p.Ser996Arg)
n.2694T>G
c.3297T>G (p.Ser1099Arg)
n.3444T>G
c.2490T>G (p.Ser830Arg)
c.2877T>G (p.Ser959Arg)
c.2241T>G (p.Ser747Arg)
c.-699T>G (n.-699T>G)
5g.177211697G>ACA362323509NSD1c.2425G>A (p.Glu809Lys)
n.612+7405G>A
n.2881G>A
c.2989G>A (p.Glu997Lys)
n.2695G>A
c.3298G>A (p.Glu1100Lys)
n.3445G>A
c.2491G>A (p.Glu831Lys)
c.2878G>A (p.Glu960Lys)
c.2242G>A (p.Glu748Lys)
c.-698G>A (n.-698G>A)
5g.177211697G>CCA362323514NSD1c.2425G>C (p.Glu809Gln)
n.612+7405G>C
n.2881G>C
c.2989G>C (p.Glu997Gln)
n.2695G>C
c.3298G>C (p.Glu1100Gln)
n.3445G>C
c.2491G>C (p.Glu831Gln)
c.2878G>C (p.Glu960Gln)
c.2242G>C (p.Glu748Gln)
c.-698G>C (n.-698G>C)
5g.177211697G>TCA362323512NSD1c.2425G>T (p.Glu809Ter)
n.612+7405G>T
n.2881G>T
c.2989G>T (p.Glu997Ter)
n.2695G>T
c.3298G>T (p.Glu1100Ter)
n.3445G>T
c.2491G>T (p.Glu831Ter)
c.2878G>T (p.Glu960Ter)
c.2242G>T (p.Glu748Ter)
c.-698G>T (n.-698G>T)
5g.177211698A>CCA362323519NSD1c.2426A>C (p.Glu809Ala)
n.612+7406A>C
n.2882A>C
c.2990A>C (p.Glu997Ala)
n.2696A>C
c.3299A>C (p.Glu1100Ala)
n.3446A>C
c.2492A>C (p.Glu831Ala)
c.2879A>C (p.Glu960Ala)
c.2243A>C (p.Glu748Ala)
c.-697A>C (n.-697A>C)
5g.177211698A>GCA362323525NSD1c.2426A>G (p.Glu809Gly)
n.612+7406A>G
n.2882A>G
c.2990A>G (p.Glu997Gly)
n.2696A>G
c.3299A>G (p.Glu1100Gly)
n.3446A>G
c.2492A>G (p.Glu831Gly)
c.2879A>G (p.Glu960Gly)
c.2243A>G (p.Glu748Gly)
c.-697A>G (n.-697A>G)
5g.177211698A>TCA362323522NSD1c.2426A>T (p.Glu809Val)
n.612+7406A>T
n.2882A>T
c.2990A>T (p.Glu997Val)
n.2696A>T
c.3299A>T (p.Glu1100Val)
n.3446A>T
c.2492A>T (p.Glu831Val)
c.2879A>T (p.Glu960Val)
c.2243A>T (p.Glu748Val)
c.-697A>T (n.-697A>T)
5g.177211699A>CCA362323532NSD1c.2427A>C (p.Glu809Asp)
n.612+7407A>C
n.2883A>C
c.2991A>C (p.Glu997Asp)
n.2697A>C
c.3300A>C (p.Glu1100Asp)
n.3447A>C
c.2493A>C (p.Glu831Asp)
c.2880A>C (p.Glu960Asp)
c.2244A>C (p.Glu748Asp)
c.-696A>C (n.-696A>C)
5g.177211699A>GCA447961058NSD1c.2427A>G (p.Glu809=)
n.612+7407A>G
n.2883A>G
c.2991A>G (p.Glu997=)
n.2697A>G
c.3300A>G (p.Glu1100=)
n.3447A>G
c.2493A>G (p.Glu831=)
c.2880A>G (p.Glu960=)
c.2244A>G (p.Glu748=)
c.-696A>G (n.-696A>G)
5g.177211699A>TCA362323533NSD1c.2427A>T (p.Glu809Asp)
n.612+7407A>T
n.2883A>T
c.2991A>T (p.Glu997Asp)
n.2697A>T
c.3300A>T (p.Glu1100Asp)
n.3447A>T
c.2493A>T (p.Glu831Asp)
c.2880A>T (p.Glu960Asp)
c.2244A>T (p.Glu748Asp)
c.-696A>T (n.-696A>T)
5g.177211700G>ACA362323537NSD1c.2428G>A (p.Asp810Asn)
n.612+7408G>A
n.2884G>A
c.2992G>A (p.Asp998Asn)
n.2698G>A
c.3301G>A (p.Asp1101Asn)
n.3448G>A
c.2494G>A (p.Asp832Asn)
c.2881G>A (p.Asp961Asn)
c.2245G>A (p.Asp749Asn)
c.-695G>A (n.-695G>A)
gnomAD v4
5g.177211700G>CCA362323538NSD1c.2428G>C (p.Asp810His)
n.612+7408G>C
n.2884G>C
c.2992G>C (p.Asp998His)
n.2698G>C
c.3301G>C (p.Asp1101His)
n.3448G>C
c.2494G>C (p.Asp832His)
c.2881G>C (p.Asp961His)
c.2245G>C (p.Asp749His)
c.-695G>C (n.-695G>C)
5g.177211700G=CA1603478709NSD1c.2428G= (p.Asp810=)
n.612+7408G=
n.2884G=
c.2992G= (p.Asp998=)
n.2698G=
c.3301G= (p.Asp1101=)
n.3448G=
c.2494G= (p.Asp832=)
c.2881G= (p.Asp961=)
c.2245G= (p.Asp749=)
c.-695G= (n.-695G=)
5g.177211700G>TCA362323539NSD1c.2428G>T (p.Asp810Tyr)
n.612+7408G>T
n.2884G>T
c.2992G>T (p.Asp998Tyr)
n.2698G>T
c.3301G>T (p.Asp1101Tyr)
n.3448G>T
c.2494G>T (p.Asp832Tyr)
c.2881G>T (p.Asp961Tyr)
c.2245G>T (p.Asp749Tyr)
c.-695G>T (n.-695G>T)
dbSNP gnomAD v4
5g.177211701A=CA1603478712NSD1c.2429A= (p.Asp810=)
n.612+7409A=
n.2885A=
c.2993A= (p.Asp998=)
n.2699A=
c.3302A= (p.Asp1101=)
n.3449A=
c.2495A= (p.Asp832=)
c.2882A= (p.Asp961=)
c.2246A= (p.Asp749=)
c.-694A= (n.-694A=)
5g.177211701A>CCA362323540NSD1c.2429A>C (p.Asp810Ala)
n.612+7409A>C
n.2885A>C
c.2993A>C (p.Asp998Ala)
n.2699A>C
c.3302A>C (p.Asp1101Ala)
n.3449A>C
c.2495A>C (p.Asp832Ala)
c.2882A>C (p.Asp961Ala)
c.2246A>C (p.Asp749Ala)
c.-694A>C (n.-694A>C)
5g.177211701A>GCA362323543NSD1c.2429A>G (p.Asp810Gly)
n.612+7409A>G
n.2885A>G
c.2993A>G (p.Asp998Gly)
n.2699A>G
c.3302A>G (p.Asp1101Gly)
n.3449A>G
c.2495A>G (p.Asp832Gly)
c.2882A>G (p.Asp961Gly)
c.2246A>G (p.Asp749Gly)
c.-694A>G (n.-694A>G)
dbSNP gnomAD v3 gnomAD v4
5g.177211701A>TCA362323545NSD1c.2429A>T (p.Asp810Val)
n.612+7409A>T
n.2885A>T
c.2993A>T (p.Asp998Val)
n.2699A>T
c.3302A>T (p.Asp1101Val)
n.3449A>T
c.2495A>T (p.Asp832Val)
c.2882A>T (p.Asp961Val)
c.2246A>T (p.Asp749Val)
c.-694A>T (n.-694A>T)
5g.177211702T>ACA132831281NSD1c.2430T>A (p.Asp810Glu)
n.612+7410T>A
n.2886T>A
c.2994T>A (p.Asp998Glu)
n.2700T>A
c.3303T>A (p.Asp1101Glu)
n.3450T>A
c.2496T>A (p.Asp832Glu)
c.2883T>A (p.Asp961Glu)
c.2247T>A (p.Asp749Glu)
c.-693T>A (n.-693T>A)
dbSNP gnomAD v3 gnomAD v4
5g.177211702T>CCA447961059NSD1c.2430T>C (p.Asp810=)
n.612+7410T>C
n.2886T>C
c.2994T>C (p.Asp998=)
n.2700T>C
c.3303T>C (p.Asp1101=)
n.3450T>C
c.2496T>C (p.Asp832=)
c.2883T>C (p.Asp961=)
c.2247T>C (p.Asp749=)
c.-693T>C (n.-693T>C)
5g.177211702T>GCA362323553NSD1c.2430T>G (p.Asp810Glu)
n.612+7410T>G
n.2886T>G
c.2994T>G (p.Asp998Glu)
n.2700T>G
c.3303T>G (p.Asp1101Glu)
n.3450T>G
c.2496T>G (p.Asp832Glu)
c.2883T>G (p.Asp961Glu)
c.2247T>G (p.Asp749Glu)
c.-693T>G (n.-693T>G)
5g.177211702T=CA1603478714NSD1c.2430T= (p.Asp810=)
n.612+7410T=
n.2886T=
c.2994T= (p.Asp998=)
n.2700T=
c.3303T= (p.Asp1101=)
n.3450T=
c.2496T= (p.Asp832=)
c.2883T= (p.Asp961=)
c.2247T= (p.Asp749=)
c.-693T= (n.-693T=)
5g.177211703G>ACA362323561NSD1c.2431G>A (p.Gly811Ser)
n.612+7411G>A
n.2887G>A
c.2995G>A (p.Gly999Ser)
n.2701G>A
c.3304G>A (p.Gly1102Ser)
n.3451G>A
c.2497G>A (p.Gly833Ser)
c.2884G>A (p.Gly962Ser)
c.2248G>A (p.Gly750Ser)
c.-692G>A (n.-692G>A)
dbSNP
5g.177211703G>CCA132831291NSD1c.2431G>C (p.Gly811Arg)
n.612+7411G>C
n.2887G>C
c.2995G>C (p.Gly999Arg)
n.2701G>C
c.3304G>C (p.Gly1102Arg)
n.3451G>C
c.2497G>C (p.Gly833Arg)
c.2884G>C (p.Gly962Arg)
c.2248G>C (p.Gly750Arg)
c.-692G>C (n.-692G>C)
dbSNP
5g.177211703G=CA1603478718NSD1c.2431G= (p.Gly811=)
n.612+7411G=
n.2887G=
c.2995G= (p.Gly999=)
n.2701G=
c.3304G= (p.Gly1102=)
n.3451G=
c.2497G= (p.Gly833=)
c.2884G= (p.Gly962=)
c.2248G= (p.Gly750=)
c.-692G= (n.-692G=)
5g.177211703G>TCA362323556NSD1c.2431G>T (p.Gly811Cys)
n.612+7411G>T
n.2887G>T
c.2995G>T (p.Gly999Cys)
n.2701G>T
c.3304G>T (p.Gly1102Cys)
n.3451G>T
c.2497G>T (p.Gly833Cys)
c.2884G>T (p.Gly962Cys)
c.2248G>T (p.Gly750Cys)
c.-692G>T (n.-692G>T)
5g.177211704G>ACA362323567NSD1c.2432G>A (p.Gly811Asp)
n.612+7412G>A
n.2888G>A
c.2996G>A (p.Gly999Asp)
n.2702G>A
c.3305G>A (p.Gly1102Asp)
n.3452G>A
c.2498G>A (p.Gly833Asp)
c.2885G>A (p.Gly962Asp)
c.2249G>A (p.Gly750Asp)
c.-691G>A (n.-691G>A)
dbSNP
5g.177211704G>CCA362323569NSD1c.2432G>C (p.Gly811Ala)
n.612+7412G>C
n.2888G>C
c.2996G>C (p.Gly999Ala)
n.2702G>C
c.3305G>C (p.Gly1102Ala)
n.3452G>C
c.2498G>C (p.Gly833Ala)
c.2885G>C (p.Gly962Ala)
c.2249G>C (p.Gly750Ala)
c.-691G>C (n.-691G>C)
dbSNP
5g.177211704G>TCA362323571NSD1c.2432G>T (p.Gly811Val)
n.612+7412G>T
n.2888G>T
c.2996G>T (p.Gly999Val)
n.2702G>T
c.3305G>T (p.Gly1102Val)
n.3452G>T
c.2498G>T (p.Gly833Val)
c.2885G>T (p.Gly962Val)
c.2249G>T (p.Gly750Val)
c.-691G>T (n.-691G>T)
5g.177211705T>ACA447961060NSD1c.2433T>A (p.Gly811=)
n.612+7413T>A
n.2889T>A
c.2997T>A (p.Gly999=)
n.2703T>A
c.3306T>A (p.Gly1102=)
n.3453T>A
c.2499T>A (p.Gly833=)
c.2886T>A (p.Gly962=)
c.2250T>A (p.Gly750=)
c.-690T>A (n.-690T>A)
5g.177211705T>CCA447961061NSD1c.2433T>C (p.Gly811=)
n.612+7413T>C
n.2889T>C
c.2997T>C (p.Gly999=)
n.2703T>C
c.3306T>C (p.Gly1102=)
n.3453T>C
c.2499T>C (p.Gly833=)
c.2886T>C (p.Gly962=)
c.2250T>C (p.Gly750=)
c.-690T>C (n.-690T>C)
5g.177211705T>GCA447961062NSD1c.2433T>G (p.Gly811=)
n.612+7413T>G
n.2889T>G
c.2997T>G (p.Gly999=)
n.2703T>G
c.3306T>G (p.Gly1102=)
n.3453T>G
c.2499T>G (p.Gly833=)
c.2886T>G (p.Gly962=)
c.2250T>G (p.Gly750=)
c.-690T>G (n.-690T>G)
5g.177211706G>ACA3577413NSD1c.2434G>A (p.Asp812Asn)
n.612+7414G>A
n.2890G>A
c.2998G>A (p.Asp1000Asn)
n.2704G>A
c.3307G>A (p.Asp1103Asn)
n.3454G>A
c.2500G>A (p.Asp834Asn)
c.2887G>A (p.Asp963Asn)
c.2251G>A (p.Asp751Asn)
c.-689G>A (n.-689G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211706G>CCA362323572NSD1c.2434G>C (p.Asp812His)
n.612+7414G>C
n.2890G>C
c.2998G>C (p.Asp1000His)
n.2704G>C
c.3307G>C (p.Asp1103His)
n.3454G>C
c.2500G>C (p.Asp834His)
c.2887G>C (p.Asp963His)
c.2251G>C (p.Asp751His)
c.-689G>C (n.-689G>C)
5g.177211706G=CA1603478723NSD1c.2434G= (p.Asp812=)
n.612+7414G=
n.2890G=
c.2998G= (p.Asp1000=)
n.2704G=
c.3307G= (p.Asp1103=)
n.3454G=
c.2500G= (p.Asp834=)
c.2887G= (p.Asp963=)
c.2251G= (p.Asp751=)
c.-689G= (n.-689G=)
5g.177211706G>TCA362323573NSD1c.2434G>T (p.Asp812Tyr)
n.612+7414G>T
n.2890G>T
c.2998G>T (p.Asp1000Tyr)
n.2704G>T
c.3307G>T (p.Asp1103Tyr)
n.3454G>T
c.2500G>T (p.Asp834Tyr)
c.2887G>T (p.Asp963Tyr)
c.2251G>T (p.Asp751Tyr)
c.-689G>T (n.-689G>T)
gnomAD v4
5g.177211707A>CCA362323576NSD1c.2435A>C (p.Asp812Ala)
n.612+7415A>C
n.2891A>C
c.2999A>C (p.Asp1000Ala)
n.2705A>C
c.3308A>C (p.Asp1103Ala)
n.3455A>C
c.2501A>C (p.Asp834Ala)
c.2888A>C (p.Asp963Ala)
c.2252A>C (p.Asp751Ala)
c.-688A>C (n.-688A>C)
5g.177211707A>GCA362323577NSD1c.2435A>G (p.Asp812Gly)
n.612+7415A>G
n.2891A>G
c.2999A>G (p.Asp1000Gly)
n.2705A>G
c.3308A>G (p.Asp1103Gly)
n.3455A>G
c.2501A>G (p.Asp834Gly)
c.2888A>G (p.Asp963Gly)
c.2252A>G (p.Asp751Gly)
c.-688A>G (n.-688A>G)
5g.177211707A>TCA362323580NSD1c.2435A>T (p.Asp812Val)
n.612+7415A>T
n.2891A>T
c.2999A>T (p.Asp1000Val)
n.2705A>T
c.3308A>T (p.Asp1103Val)
n.3455A>T
c.2501A>T (p.Asp834Val)
c.2888A>T (p.Asp963Val)
c.2252A>T (p.Asp751Val)
c.-688A>T (n.-688A>T)
5g.177211708C>ACA362323584NSD1c.2436C>A (p.Asp812Glu)
n.612+7416C>A
n.2892C>A
c.3000C>A (p.Asp1000Glu)
n.2706C>A
c.3309C>A (p.Asp1103Glu)
n.3456C>A
c.2502C>A (p.Asp834Glu)
c.2889C>A (p.Asp963Glu)
c.2253C>A (p.Asp751Glu)
c.-687C>A (n.-687C>A)
5g.177211708C=CA1603478728NSD1c.2436C= (p.Asp812=)
n.612+7416C=
n.2892C=
c.3000C= (p.Asp1000=)
n.2706C=
c.3309C= (p.Asp1103=)
n.3456C=
c.2502C= (p.Asp834=)
c.2889C= (p.Asp963=)
c.2253C= (p.Asp751=)
c.-687C= (n.-687C=)
5g.177211708C>GCA132831308NSD1c.2436C>G (p.Asp812Glu)
n.612+7416C>G
n.2892C>G
c.3000C>G (p.Asp1000Glu)
n.2706C>G
c.3309C>G (p.Asp1103Glu)
n.3456C>G
c.2502C>G (p.Asp834Glu)
c.2889C>G (p.Asp963Glu)
c.2253C>G (p.Asp751Glu)
c.-687C>G (n.-687C>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177211708C>TCA447961063NSD1c.2436C>T (p.Asp812=)
n.612+7416C>T
n.2892C>T
c.3000C>T (p.Asp1000=)
n.2706C>T
c.3309C>T (p.Asp1103=)
n.3456C>T
c.2502C>T (p.Asp834=)
c.2889C>T (p.Asp963=)
c.2253C>T (p.Asp751=)
c.-687C>T (n.-687C>T)
COSMIC COSMIC
5g.177211709C>ACA362323597NSD1c.2437C>A (p.His813Asn)
n.612+7417C>A
n.2893C>A
c.3001C>A (p.His1001Asn)
n.2707C>A
c.3310C>A (p.His1104Asn)
n.3457C>A
c.2503C>A (p.His835Asn)
c.2890C>A (p.His964Asn)
c.2254C>A (p.His752Asn)
c.-686C>A (n.-686C>A)
5g.177211709C>GCA362323594NSD1c.2437C>G (p.His813Asp)
n.612+7417C>G
n.2893C>G
c.3001C>G (p.His1001Asp)
n.2707C>G
c.3310C>G (p.His1104Asp)
n.3457C>G
c.2503C>G (p.His835Asp)
c.2890C>G (p.His964Asp)
c.2254C>G (p.His752Asp)
c.-686C>G (n.-686C>G)
5g.177211709C>TCA362323591NSD1c.2437C>T (p.His813Tyr)
n.612+7417C>T
n.2893C>T
c.3001C>T (p.His1001Tyr)
n.2707C>T
c.3310C>T (p.His1104Tyr)
n.3457C>T
c.2503C>T (p.His835Tyr)
c.2890C>T (p.His964Tyr)
c.2254C>T (p.His752Tyr)
c.-686C>T (n.-686C>T)
gnomAD v4
5g.177211710A=CA1603478734NSD1c.2438A= (p.His813=)
n.612+7418A=
n.2894A=
c.3002A= (p.His1001=)
n.2708A=
c.3311A= (p.His1104=)
n.3458A=
c.2504A= (p.His835=)
c.2891A= (p.His964=)
c.2255A= (p.His752=)
c.-685A= (n.-685A=)
5g.177211710A>CCA362323601NSD1c.2438A>C (p.His813Pro)
n.612+7418A>C
n.2894A>C
c.3002A>C (p.His1001Pro)
n.2708A>C
c.3311A>C (p.His1104Pro)
n.3458A>C
c.2504A>C (p.His835Pro)
c.2891A>C (p.His964Pro)
c.2255A>C (p.His752Pro)
c.-685A>C (n.-685A>C)
5g.177211710A>GCA3577414NSD1c.2438A>G (p.His813Arg)
n.612+7418A>G
n.2894A>G
c.3002A>G (p.His1001Arg)
n.2708A>G
c.3311A>G (p.His1104Arg)
n.3458A>G
c.2504A>G (p.His835Arg)
c.2891A>G (p.His964Arg)
c.2255A>G (p.His752Arg)
c.-685A>G (n.-685A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177211710A>TCA362323605NSD1c.2438A>T (p.His813Leu)
n.612+7418A>T
n.2894A>T
c.3002A>T (p.His1001Leu)
n.2708A>T
c.3311A>T (p.His1104Leu)
n.3458A>T
c.2504A>T (p.His835Leu)
c.2891A>T (p.His964Leu)
c.2255A>T (p.His752Leu)
c.-685A>T (n.-685A>T)
dbSNP gnomAD v3 gnomAD v4
5g.177211711T>ACA362323608NSD1c.2439T>A (p.His813Gln)
n.612+7419T>A
n.2895T>A
c.3003T>A (p.His1001Gln)
n.2709T>A
c.3312T>A (p.His1104Gln)
n.3459T>A
c.2505T>A (p.His835Gln)
c.2892T>A (p.His964Gln)
c.2256T>A (p.His752Gln)
c.-684T>A (n.-684T>A)
5g.177211711T>CCA447961064NSD1c.2439T>C (p.His813=)
n.612+7419T>C
n.2895T>C
c.3003T>C (p.His1001=)
n.2709T>C
c.3312T>C (p.His1104=)
n.3459T>C
c.2505T>C (p.His835=)
c.2892T>C (p.His964=)
c.2256T>C (p.His752=)
c.-684T>C (n.-684T>C)
5g.177211711T>GCA362323613NSD1c.2439T>G (p.His813Gln)
n.612+7419T>G
n.2895T>G
c.3003T>G (p.His1001Gln)
n.2709T>G
c.3312T>G (p.His1104Gln)
n.3459T>G
c.2505T>G (p.His835Gln)
c.2892T>G (p.His964Gln)
c.2256T>G (p.His752Gln)
c.-684T>G (n.-684T>G)
5g.177211715dupCA319724NSD1c.2443dup (p.Ser815PhefsTer2)
n.612+7423dup
n.2899dup
c.3007dup (p.Ser1003PhefsTer2)
n.2713dup
c.3316dup (p.Ser1106PhefsTer2)
n.3463dup
c.2509dup (p.Ser837PhefsTer2)
c.2896dup (p.Ser966PhefsTer2)
c.2260dup (p.Ser754PhefsTer2)
c.-680dup (n.-680dup)
ClinVar dbSNP
5g.177211715delCA2710741776NSD1c.2443del (p.Ser815LeufsTer?)
n.612+7423del
n.2899del
c.3007del (p.Ser1003LeufsTer?)
n.2713del
c.3316del (p.Ser1106LeufsTer?)
n.3463del
c.2509del (p.Ser837LeufsTer?)
c.2896del (p.Ser966LeufsTer?)
c.2260del (p.Ser754LeufsTer?)
c.-680del (n.-680del)
dbSNP
5g.177211712T>ACA362323618NSD1c.2440T>A (p.Phe814Ile)
n.612+7420T>A
n.2896T>A
c.3004T>A (p.Phe1002Ile)
n.2710T>A
c.3313T>A (p.Phe1105Ile)
n.3460T>A
c.2506T>A (p.Phe836Ile)
c.2893T>A (p.Phe965Ile)
c.2257T>A (p.Phe753Ile)
c.-683T>A (n.-683T>A)
5g.177211712T>CCA362323621NSD1c.2440T>C (p.Phe814Leu)
n.612+7420T>C
n.2896T>C
c.3004T>C (p.Phe1002Leu)
n.2710T>C
c.3313T>C (p.Phe1105Leu)
n.3460T>C
c.2506T>C (p.Phe836Leu)
c.2893T>C (p.Phe965Leu)
c.2257T>C (p.Phe753Leu)
c.-683T>C (n.-683T>C)
5g.177211712T>GCA362323623NSD1c.2440T>G (p.Phe814Val)
n.612+7420T>G
n.2896T>G
c.3004T>G (p.Phe1002Val)
n.2710T>G
c.3313T>G (p.Phe1105Val)
n.3460T>G
c.2506T>G (p.Phe836Val)
c.2893T>G (p.Phe965Val)
c.2257T>G (p.Phe753Val)
c.-683T>G (n.-683T>G)
5g.177211713T>ACA362323628NSD1c.2441T>A (p.Phe814Tyr)
n.612+7421T>A
n.2897T>A
c.3005T>A (p.Phe1002Tyr)
n.2711T>A
c.3314T>A (p.Phe1105Tyr)
n.3461T>A
c.2507T>A (p.Phe836Tyr)
c.2894T>A (p.Phe965Tyr)
c.2258T>A (p.Phe753Tyr)
c.-682T>A (n.-682T>A)
dbSNP
5g.177211713T>CCA362323632NSD1c.2441T>C (p.Phe814Ser)
n.612+7421T>C
n.2897T>C
c.3005T>C (p.Phe1002Ser)
n.2711T>C
c.3314T>C (p.Phe1105Ser)
n.3461T>C
c.2507T>C (p.Phe836Ser)
c.2894T>C (p.Phe965Ser)
c.2258T>C (p.Phe753Ser)
c.-682T>C (n.-682T>C)
5g.177211713T>GCA362323635NSD1c.2441T>G (p.Phe814Cys)
n.612+7421T>G
n.2897T>G
c.3005T>G (p.Phe1002Cys)
n.2711T>G
c.3314T>G (p.Phe1105Cys)
n.3461T>G
c.2507T>G (p.Phe836Cys)
c.2894T>G (p.Phe965Cys)
c.2258T>G (p.Phe753Cys)
c.-682T>G (n.-682T>G)
5g.177211714T>ACA362323639NSD1c.2442T>A (p.Phe814Leu)
n.612+7422T>A
n.2898T>A
c.3006T>A (p.Phe1002Leu)
n.2712T>A
c.3315T>A (p.Phe1105Leu)
n.3462T>A
c.2508T>A (p.Phe836Leu)
c.2895T>A (p.Phe965Leu)
c.2259T>A (p.Phe753Leu)
c.-681T>A (n.-681T>A)
5g.177211714T>CCA447961065NSD1c.2442T>C (p.Phe814=)
n.612+7422T>C
n.2898T>C
c.3006T>C (p.Phe1002=)
n.2712T>C
c.3315T>C (p.Phe1105=)
n.3462T>C
c.2508T>C (p.Phe836=)
c.2895T>C (p.Phe965=)
c.2259T>C (p.Phe753=)
c.-681T>C (n.-681T>C)
5g.177211714T>GCA362323641NSD1c.2442T>G (p.Phe814Leu)
n.612+7422T>G
n.2898T>G
c.3006T>G (p.Phe1002Leu)
n.2712T>G
c.3315T>G (p.Phe1105Leu)
n.3462T>G
c.2508T>G (p.Phe836Leu)
c.2895T>G (p.Phe965Leu)
c.2259T>G (p.Phe753Leu)
c.-681T>G (n.-681T>G)
5g.177211715T>ACA362323646NSD1c.2443T>A (p.Ser815Thr)
n.612+7423T>A
n.2899T>A
c.3007T>A (p.Ser1003Thr)
n.2713T>A
c.3316T>A (p.Ser1106Thr)
n.3463T>A
c.2509T>A (p.Ser837Thr)
c.2896T>A (p.Ser966Thr)
c.2260T>A (p.Ser754Thr)
c.-680T>A (n.-680T>A)
5g.177211715T>CCA362323651NSD1c.2443T>C (p.Ser815Pro)
n.612+7423T>C
n.2899T>C
c.3007T>C (p.Ser1003Pro)
n.2713T>C
c.3316T>C (p.Ser1106Pro)
n.3463T>C
c.2509T>C (p.Ser837Pro)
c.2896T>C (p.Ser966Pro)
c.2260T>C (p.Ser754Pro)
c.-680T>C (n.-680T>C)
5g.177211715T>GCA362323648NSD1c.2443T>G (p.Ser815Ala)
n.612+7423T>G
n.2899T>G
c.3007T>G (p.Ser1003Ala)
n.2713T>G
c.3316T>G (p.Ser1106Ala)
n.3463T>G
c.2509T>G (p.Ser837Ala)
c.2896T>G (p.Ser966Ala)
c.2260T>G (p.Ser754Ala)
c.-680T>G (n.-680T>G)
5g.177211716C>ACA362323654NSD1c.2444C>A (p.Ser815Tyr)
n.612+7424C>A
n.2900C>A
c.3008C>A (p.Ser1003Tyr)
n.2714C>A
c.3317C>A (p.Ser1106Tyr)
n.3464C>A
c.2510C>A (p.Ser837Tyr)
c.2897C>A (p.Ser966Tyr)
c.2261C>A (p.Ser754Tyr)
c.-679C>A (n.-679C>A)
5g.177211716C>GCA362323657NSD1c.2444C>G (p.Ser815Cys)
n.612+7424C>G
n.2900C>G
c.3008C>G (p.Ser1003Cys)
n.2714C>G
c.3317C>G (p.Ser1106Cys)
n.3464C>G
c.2510C>G (p.Ser837Cys)
c.2897C>G (p.Ser966Cys)
c.2261C>G (p.Ser754Cys)
c.-679C>G (n.-679C>G)
5g.177211716C>TCA362323659NSD1c.2444C>T (p.Ser815Phe)
n.612+7424C>T
n.2900C>T
c.3008C>T (p.Ser1003Phe)
n.2714C>T
c.3317C>T (p.Ser1106Phe)
n.3464C>T
c.2510C>T (p.Ser837Phe)
c.2897C>T (p.Ser966Phe)
c.2261C>T (p.Ser754Phe)
c.-679C>T (n.-679C>T)
5g.177211716_177211717insCAGCA2501042640NSD1c.2444_2445insCAG (p.Ser815_Asp816insSer)
n.612+7424_612+7425insCAG
n.2900_2901insCAG
c.3008_3009insCAG (p.Ser1003_Asp1004insSer)
n.2714_2715insCAG
c.3317_3318insCAG (p.Ser1106_Asp1107insSer)
n.3464_3465insCAG
c.2510_2511insCAG (p.Ser837_Asp838insSer)
c.2897_2898insCAG (p.Ser966_Asp967insSer)
c.2261_2262insCAG (p.Ser754_Asp755insSer)
c.-679_-678insCAG (n.-679_-678insCAG)
5g.177211717T>ACA447961068NSD1c.2445T>A (p.Ser815=)
n.612+7425T>A
n.2901T>A
c.3009T>A (p.Ser1003=)
n.2715T>A
c.3318T>A (p.Ser1106=)
n.3465T>A
c.2511T>A (p.Ser837=)
c.2898T>A (p.Ser966=)
c.2262T>A (p.Ser754=)
c.-678T>A (n.-678T>A)
5g.177211717T>CCA447961066NSD1c.2445T>C (p.Ser815=)
n.612+7425T>C
n.2901T>C
c.3009T>C (p.Ser1003=)
n.2715T>C
c.3318T>C (p.Ser1106=)
n.3465T>C
c.2511T>C (p.Ser837=)
c.2898T>C (p.Ser966=)
c.2262T>C (p.Ser754=)
c.-678T>C (n.-678T>C)
5g.177211717T>GCA447961067NSD1c.2445T>G (p.Ser815=)
n.612+7425T>G
n.2901T>G
c.3009T>G (p.Ser1003=)
n.2715T>G
c.3318T>G (p.Ser1106=)
n.3465T>G
c.2511T>G (p.Ser837=)
c.2898T>G (p.Ser966=)
c.2262T>G (p.Ser754=)
c.-678T>G (n.-678T>G)
5g.177211718G>ACA362323662NSD1c.2446G>A (p.Asp816Asn)
n.612+7426G>A
n.2902G>A
c.3010G>A (p.Asp1004Asn)
n.2716G>A
c.3319G>A (p.Asp1107Asn)
n.3466G>A
c.2512G>A (p.Asp838Asn)
c.2899G>A (p.Asp967Asn)
c.2263G>A (p.Asp755Asn)
c.-677G>A (n.-677G>A)
5g.177211718G>CCA362323665NSD1c.2446G>C (p.Asp816His)
n.612+7426G>C
n.2902G>C
c.3010G>C (p.Asp1004His)
n.2716G>C
c.3319G>C (p.Asp1107His)
n.3466G>C
c.2512G>C (p.Asp838His)
c.2899G>C (p.Asp967His)
c.2263G>C (p.Asp755His)
c.-677G>C (n.-677G>C)
5g.177211718G>TCA362323668NSD1c.2446G>T (p.Asp816Tyr)
n.612+7426G>T
n.2902G>T
c.3010G>T (p.Asp1004Tyr)
n.2716G>T
c.3319G>T (p.Asp1107Tyr)
n.3466G>T
c.2512G>T (p.Asp838Tyr)
c.2899G>T (p.Asp967Tyr)
c.2263G>T (p.Asp755Tyr)
c.-677G>T (n.-677G>T)

Number of alleles fetched