Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177251727C=CA1603529628NSD1c.3769-3C= (n.3769-3C=)
n.4225-3C=
c.4333-3C= (n.4333-3C=)
n.4039-3C=
n.4789-3C=
c.4642-3C= (n.4642-3C=)
c.3835-3C= (n.3835-3C=)
c.136-3C= (n.136-3C=)
c.4222-3C= (n.4222-3C=)
c.3586-3C= (n.3586-3C=)
c.376-3C= (n.376-3C=)
5g.177251727C>TCA3577687NSD1c.3769-3C>T (n.3769-3C>T)
n.4225-3C>T
c.4333-3C>T (n.4333-3C>T)
n.4039-3C>T
n.4789-3C>T
c.4642-3C>T (n.4642-3C>T)
c.3835-3C>T (n.3835-3C>T)
c.136-3C>T (n.136-3C>T)
c.4222-3C>T (n.4222-3C>T)
c.3586-3C>T (n.3586-3C>T)
c.376-3C>T (n.376-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177251728A>CCA362351333NSD1c.3769-2A>C (n.3769-2A>C)
n.4225-2A>C
c.4333-2A>C (n.4333-2A>C)
n.4039-2A>C
n.4789-2A>C
c.4642-2A>C (n.4642-2A>C)
c.3835-2A>C (n.3835-2A>C)
c.136-2A>C (n.136-2A>C)
c.4222-2A>C (n.4222-2A>C)
c.3586-2A>C (n.3586-2A>C)
c.376-2A>C (n.376-2A>C)
5g.177251728A>GCA362351335NSD1c.3769-2A>G (n.3769-2A>G)
n.4225-2A>G
c.4333-2A>G (n.4333-2A>G)
n.4039-2A>G
n.4789-2A>G
c.4642-2A>G (n.4642-2A>G)
c.3835-2A>G (n.3835-2A>G)
c.136-2A>G (n.136-2A>G)
c.4222-2A>G (n.4222-2A>G)
c.3586-2A>G (n.3586-2A>G)
c.376-2A>G (n.376-2A>G)
 ClinVar
5g.177251728A>TCA362351338NSD1c.3769-2A>T (n.3769-2A>T)
n.4225-2A>T
c.4333-2A>T (n.4333-2A>T)
n.4039-2A>T
n.4789-2A>T
c.4642-2A>T (n.4642-2A>T)
c.3835-2A>T (n.3835-2A>T)
c.136-2A>T (n.136-2A>T)
c.4222-2A>T (n.4222-2A>T)
c.3586-2A>T (n.3586-2A>T)
c.376-2A>T (n.376-2A>T)
5g.177251729G>ACA362351344NSD1c.3769-1G>A (n.3769-1G>A)
n.4225-1G>A
c.4333-1G>A (n.4333-1G>A)
n.4039-1G>A
n.4789-1G>A
c.4642-1G>A (n.4642-1G>A)
c.3835-1G>A (n.3835-1G>A)
c.136-1G>A (n.136-1G>A)
c.4222-1G>A (n.4222-1G>A)
c.3586-1G>A (n.3586-1G>A)
c.376-1G>A (n.376-1G>A)
5g.177251729G>CCA362351348NSD1c.3769-1G>C (n.3769-1G>C)
n.4225-1G>C
c.4333-1G>C (n.4333-1G>C)
n.4039-1G>C
n.4789-1G>C
c.4642-1G>C (n.4642-1G>C)
c.3835-1G>C (n.3835-1G>C)
c.136-1G>C (n.136-1G>C)
c.4222-1G>C (n.4222-1G>C)
c.3586-1G>C (n.3586-1G>C)
c.376-1G>C (n.376-1G>C)
 COSMIC COSMIC
5g.177251729G>TCA362351349NSD1c.3769-1G>T (n.3769-1G>T)
n.4225-1G>T
c.4333-1G>T (n.4333-1G>T)
n.4039-1G>T
n.4789-1G>T
c.4642-1G>T (n.4642-1G>T)
c.3835-1G>T (n.3835-1G>T)
c.136-1G>T (n.136-1G>T)
c.4222-1G>T (n.4222-1G>T)
c.3586-1G>T (n.3586-1G>T)
c.376-1G>T (n.376-1G>T)
5g.177251730A>CCA362351352NSD1c.3769A>C (p.Asn1257His)
n.4225A>C
c.4333A>C (p.Asn1445His)
n.4039A>C
n.4789A>C
c.4642A>C (p.Asn1548His)
c.3835A>C (p.Asn1279His)
c.136A>C (p.Asn46His)
c.4222A>C (p.Asn1408His)
c.3586A>C (p.Asn1196His)
c.376A>C (p.Asn126His)
5g.177251730A>GCA362351353NSD1c.3769A>G (p.Asn1257Asp)
n.4225A>G
c.4333A>G (p.Asn1445Asp)
n.4039A>G
n.4789A>G
c.4642A>G (p.Asn1548Asp)
c.3835A>G (p.Asn1279Asp)
c.136A>G (p.Asn46Asp)
c.4222A>G (p.Asn1408Asp)
c.3586A>G (p.Asn1196Asp)
c.376A>G (p.Asn126Asp)
5g.177251730A>TCA362351356NSD1c.3769A>T (p.Asn1257Tyr)
n.4225A>T
c.4333A>T (p.Asn1445Tyr)
n.4039A>T
n.4789A>T
c.4642A>T (p.Asn1548Tyr)
c.3835A>T (p.Asn1279Tyr)
c.136A>T (p.Asn46Tyr)
c.4222A>T (p.Asn1408Tyr)
c.3586A>T (p.Asn1196Tyr)
c.376A>T (p.Asn126Tyr)
5g.177251731A>CCA362351367NSD1c.3770A>C (p.Asn1257Thr)
n.4226A>C
c.4334A>C (p.Asn1445Thr)
n.4040A>C
n.4790A>C
c.4643A>C (p.Asn1548Thr)
c.3836A>C (p.Asn1279Thr)
c.137A>C (p.Asn46Thr)
c.4223A>C (p.Asn1408Thr)
c.3587A>C (p.Asn1196Thr)
c.377A>C (p.Asn126Thr)
5g.177251731A>GCA362351374NSD1c.3770A>G (p.Asn1257Ser)
n.4226A>G
c.4334A>G (p.Asn1445Ser)
n.4040A>G
n.4790A>G
c.4643A>G (p.Asn1548Ser)
c.3836A>G (p.Asn1279Ser)
c.137A>G (p.Asn46Ser)
c.4223A>G (p.Asn1408Ser)
c.3587A>G (p.Asn1196Ser)
c.377A>G (p.Asn126Ser)
 gnomAD v4
5g.177251731A>TCA362351369NSD1c.3770A>T (p.Asn1257Ile)
n.4226A>T
c.4334A>T (p.Asn1445Ile)
n.4040A>T
n.4790A>T
c.4643A>T (p.Asn1548Ile)
c.3836A>T (p.Asn1279Ile)
c.137A>T (p.Asn46Ile)
c.4223A>T (p.Asn1408Ile)
c.3587A>T (p.Asn1196Ile)
c.377A>T (p.Asn126Ile)
5g.177251732T>ACA362351388NSD1c.3771T>A (p.Asn1257Lys)
n.4227T>A
c.4335T>A (p.Asn1445Lys)
n.4041T>A
n.4791T>A
c.4644T>A (p.Asn1548Lys)
c.3837T>A (p.Asn1279Lys)
c.138T>A (p.Asn46Lys)
c.4224T>A (p.Asn1408Lys)
c.3588T>A (p.Asn1196Lys)
c.378T>A (p.Asn126Lys)
5g.177251732T>CCA447725780NSD1c.3771T>C (p.Asn1257=)
n.4227T>C
c.4335T>C (p.Asn1445=)
n.4041T>C
n.4791T>C
c.4644T>C (p.Asn1548=)
c.3837T>C (p.Asn1279=)
c.138T>C (p.Asn46=)
c.4224T>C (p.Asn1408=)
c.3588T>C (p.Asn1196=)
c.378T>C (p.Asn126=)
 dbSNP gnomAD v3 gnomAD v4
5g.177251732T>GCA362351389NSD1c.3771T>G (p.Asn1257Lys)
n.4227T>G
c.4335T>G (p.Asn1445Lys)
n.4041T>G
n.4791T>G
c.4644T>G (p.Asn1548Lys)
c.3837T>G (p.Asn1279Lys)
c.138T>G (p.Asn46Lys)
c.4224T>G (p.Asn1408Lys)
c.3588T>G (p.Asn1196Lys)
c.378T>G (p.Asn126Lys)
5g.177251732T=CA1603529637NSD1c.3771T= (p.Asn1257=)
n.4227T=
c.4335T= (p.Asn1445=)
n.4041T=
n.4791T=
c.4644T= (p.Asn1548=)
c.3837T= (p.Asn1279=)
c.138T= (p.Asn46=)
c.4224T= (p.Asn1408=)
c.3588T= (p.Asn1196=)
c.378T= (p.Asn126=)
5g.177251733T>ACA362351392NSD1c.3772T>A (p.Cys1258Ser)
n.4228T>A
c.4336T>A (p.Cys1446Ser)
n.4042T>A
n.4792T>A
c.4645T>A (p.Cys1549Ser)
c.3838T>A (p.Cys1280Ser)
c.139T>A (p.Cys47Ser)
c.4225T>A (p.Cys1409Ser)
c.3589T>A (p.Cys1197Ser)
c.379T>A (p.Cys127Ser)
5g.177251733T>CCA362351403NSD1c.3772T>C (p.Cys1258Arg)
n.4228T>C
c.4336T>C (p.Cys1446Arg)
n.4042T>C
n.4792T>C
c.4645T>C (p.Cys1549Arg)
c.3838T>C (p.Cys1280Arg)
c.139T>C (p.Cys47Arg)
c.4225T>C (p.Cys1409Arg)
c.3589T>C (p.Cys1197Arg)
c.379T>C (p.Cys127Arg)
5g.177251733T>GCA362351395NSD1c.3772T>G (p.Cys1258Gly)
n.4228T>G
c.4336T>G (p.Cys1446Gly)
n.4042T>G
n.4792T>G
c.4645T>G (p.Cys1549Gly)
c.3838T>G (p.Cys1280Gly)
c.139T>G (p.Cys47Gly)
c.4225T>G (p.Cys1409Gly)
c.3589T>G (p.Cys1197Gly)
c.379T>G (p.Cys127Gly)
 ClinVar dbSNP
5g.177251733T=CA1603529638NSD1c.3772T= (p.Cys1258=)
n.4228T=
c.4336T= (p.Cys1446=)
n.4042T=
n.4792T=
c.4645T= (p.Cys1549=)
c.3838T= (p.Cys1280=)
c.139T= (p.Cys47=)
c.4225T= (p.Cys1409=)
c.3589T= (p.Cys1197=)
c.379T= (p.Cys127=)
5g.177251734G>ACA362351407NSD1c.3773G>A (p.Cys1258Tyr)
n.4229G>A
c.4337G>A (p.Cys1446Tyr)
n.4043G>A
n.4793G>A
c.4646G>A (p.Cys1549Tyr)
c.3839G>A (p.Cys1280Tyr)
c.140G>A (p.Cys47Tyr)
c.4226G>A (p.Cys1409Tyr)
c.3590G>A (p.Cys1197Tyr)
c.380G>A (p.Cys127Tyr)
5g.177251734G>CCA362351422NSD1c.3773G>C (p.Cys1258Ser)
n.4229G>C
c.4337G>C (p.Cys1446Ser)
n.4043G>C
n.4793G>C
c.4646G>C (p.Cys1549Ser)
c.3839G>C (p.Cys1280Ser)
c.140G>C (p.Cys47Ser)
c.4226G>C (p.Cys1409Ser)
c.3590G>C (p.Cys1197Ser)
c.380G>C (p.Cys127Ser)
5g.177251734G>TCA362351436NSD1c.3773G>T (p.Cys1258Phe)
n.4229G>T
c.4337G>T (p.Cys1446Phe)
n.4043G>T
n.4793G>T
c.4646G>T (p.Cys1549Phe)
c.3839G>T (p.Cys1280Phe)
c.140G>T (p.Cys47Phe)
c.4226G>T (p.Cys1409Phe)
c.3590G>T (p.Cys1197Phe)
c.380G>T (p.Cys127Phe)
5g.177251735T>ACA362351440NSD1c.3774T>A (p.Cys1258Ter)
n.4230T>A
c.4338T>A (p.Cys1446Ter)
n.4044T>A
n.4794T>A
c.4647T>A (p.Cys1549Ter)
c.3840T>A (p.Cys1280Ter)
c.141T>A (p.Cys47Ter)
c.4227T>A (p.Cys1409Ter)
c.3591T>A (p.Cys1197Ter)
c.381T>A (p.Cys127Ter)
5g.177251735T>CCA447725781NSD1c.3774T>C (p.Cys1258=)
n.4230T>C
c.4338T>C (p.Cys1446=)
n.4044T>C
n.4794T>C
c.4647T>C (p.Cys1549=)
c.3840T>C (p.Cys1280=)
c.141T>C (p.Cys47=)
c.4227T>C (p.Cys1409=)
c.3591T>C (p.Cys1197=)
c.381T>C (p.Cys127=)
5g.177251735T>GCA362351444NSD1c.3774T>G (p.Cys1258Trp)
n.4230T>G
c.4338T>G (p.Cys1446Trp)
n.4044T>G
n.4794T>G
c.4647T>G (p.Cys1549Trp)
c.3840T>G (p.Cys1280Trp)
c.141T>G (p.Cys47Trp)
c.4227T>G (p.Cys1409Trp)
c.3591T>G (p.Cys1197Trp)
c.381T>G (p.Cys127Trp)
5g.177251736G>ACA362351447NSD1c.3775G>A (p.Glu1259Lys)
n.4231G>A
c.4339G>A (p.Glu1447Lys)
n.4045G>A
n.4795G>A
c.4648G>A (p.Glu1550Lys)
c.3841G>A (p.Glu1281Lys)
c.142G>A (p.Glu48Lys)
c.4228G>A (p.Glu1410Lys)
c.3592G>A (p.Glu1198Lys)
c.382G>A (p.Glu128Lys)
 dbSNP
5g.177251736G>CCA362351448NSD1c.3775G>C (p.Glu1259Gln)
n.4231G>C
c.4339G>C (p.Glu1447Gln)
n.4045G>C
n.4795G>C
c.4648G>C (p.Glu1550Gln)
c.3841G>C (p.Glu1281Gln)
c.142G>C (p.Glu48Gln)
c.4228G>C (p.Glu1410Gln)
c.3592G>C (p.Glu1198Gln)
c.382G>C (p.Glu128Gln)
5g.177251736G>TCA362351449NSD1c.3775G>T (p.Glu1259Ter)
n.4231G>T
c.4339G>T (p.Glu1447Ter)
n.4045G>T
n.4795G>T
c.4648G>T (p.Glu1550Ter)
c.3841G>T (p.Glu1281Ter)
c.142G>T (p.Glu48Ter)
c.4228G>T (p.Glu1410Ter)
c.3592G>T (p.Glu1198Ter)
c.382G>T (p.Glu128Ter)
5g.177251737A>CCA362351453NSD1c.3776A>C (p.Glu1259Ala)
n.4232A>C
c.4340A>C (p.Glu1447Ala)
n.4046A>C
n.4796A>C
c.4649A>C (p.Glu1550Ala)
c.3842A>C (p.Glu1281Ala)
c.143A>C (p.Glu48Ala)
c.4229A>C (p.Glu1410Ala)
c.3593A>C (p.Glu1198Ala)
c.383A>C (p.Glu128Ala)
5g.177251737A>GCA362351457NSD1c.3776A>G (p.Glu1259Gly)
n.4232A>G
c.4340A>G (p.Glu1447Gly)
n.4046A>G
n.4796A>G
c.4649A>G (p.Glu1550Gly)
c.3842A>G (p.Glu1281Gly)
c.143A>G (p.Glu48Gly)
c.4229A>G (p.Glu1410Gly)
c.3593A>G (p.Glu1198Gly)
c.383A>G (p.Glu128Gly)
5g.177251737A>TCA362351460NSD1c.3776A>T (p.Glu1259Val)
n.4232A>T
c.4340A>T (p.Glu1447Val)
n.4046A>T
n.4796A>T
c.4649A>T (p.Glu1550Val)
c.3842A>T (p.Glu1281Val)
c.143A>T (p.Glu48Val)
c.4229A>T (p.Glu1410Val)
c.3593A>T (p.Glu1198Val)
c.383A>T (p.Glu128Val)
5g.177251738A>CCA362351468NSD1c.3777A>C (p.Glu1259Asp)
n.4233A>C
c.4341A>C (p.Glu1447Asp)
n.4047A>C
n.4797A>C
c.4650A>C (p.Glu1550Asp)
c.3843A>C (p.Glu1281Asp)
c.144A>C (p.Glu48Asp)
c.4230A>C (p.Glu1410Asp)
c.3594A>C (p.Glu1198Asp)
c.384A>C (p.Glu128Asp)
5g.177251738A>GCA447725782NSD1c.3777A>G (p.Glu1259=)
n.4233A>G
c.4341A>G (p.Glu1447=)
n.4047A>G
n.4797A>G
c.4650A>G (p.Glu1550=)
c.3843A>G (p.Glu1281=)
c.144A>G (p.Glu48=)
c.4230A>G (p.Glu1410=)
c.3594A>G (p.Glu1198=)
c.384A>G (p.Glu128=)
5g.177251738A>TCA362351470NSD1c.3777A>T (p.Glu1259Asp)
n.4233A>T
c.4341A>T (p.Glu1447Asp)
n.4047A>T
n.4797A>T
c.4650A>T (p.Glu1550Asp)
c.3843A>T (p.Glu1281Asp)
c.144A>T (p.Glu48Asp)
c.4230A>T (p.Glu1410Asp)
c.3594A>T (p.Glu1198Asp)
c.384A>T (p.Glu128Asp)
5g.177251739A>CCA362351483NSD1c.3778A>C (p.Lys1260Gln)
n.4234A>C
c.4342A>C (p.Lys1448Gln)
n.4048A>C
n.4798A>C
c.4651A>C (p.Lys1551Gln)
c.3844A>C (p.Lys1282Gln)
c.145A>C (p.Lys49Gln)
c.4231A>C (p.Lys1411Gln)
c.3595A>C (p.Lys1199Gln)
c.385A>C (p.Lys129Gln)
5g.177251739A>GCA362351479NSD1c.3778A>G (p.Lys1260Glu)
n.4234A>G
c.4342A>G (p.Lys1448Glu)
n.4048A>G
n.4798A>G
c.4651A>G (p.Lys1551Glu)
c.3844A>G (p.Lys1282Glu)
c.145A>G (p.Lys49Glu)
c.4231A>G (p.Lys1411Glu)
c.3595A>G (p.Lys1199Glu)
c.385A>G (p.Lys129Glu)
5g.177251739A>TCA362351474NSD1c.3778A>T (p.Lys1260Ter)
n.4234A>T
c.4342A>T (p.Lys1448Ter)
n.4048A>T
n.4798A>T
c.4651A>T (p.Lys1551Ter)
c.3844A>T (p.Lys1282Ter)
c.145A>T (p.Lys49Ter)
c.4231A>T (p.Lys1411Ter)
c.3595A>T (p.Lys1199Ter)
c.385A>T (p.Lys129Ter)
 ClinVar
5g.177251740A>CCA362351484NSD1c.3779A>C (p.Lys1260Thr)
n.4235A>C
c.4343A>C (p.Lys1448Thr)
n.4049A>C
n.4799A>C
c.4652A>C (p.Lys1551Thr)
c.3845A>C (p.Lys1282Thr)
c.146A>C (p.Lys49Thr)
c.4232A>C (p.Lys1411Thr)
c.3596A>C (p.Lys1199Thr)
c.386A>C (p.Lys129Thr)
5g.177251740A>GCA362351485NSD1c.3779A>G (p.Lys1260Arg)
n.4235A>G
c.4343A>G (p.Lys1448Arg)
n.4049A>G
n.4799A>G
c.4652A>G (p.Lys1551Arg)
c.3845A>G (p.Lys1282Arg)
c.146A>G (p.Lys49Arg)
c.4232A>G (p.Lys1411Arg)
c.3596A>G (p.Lys1199Arg)
c.386A>G (p.Lys129Arg)
5g.177251740A>TCA362351486NSD1c.3779A>T (p.Lys1260Ile)
n.4235A>T
c.4343A>T (p.Lys1448Ile)
n.4049A>T
n.4799A>T
c.4652A>T (p.Lys1551Ile)
c.3845A>T (p.Lys1282Ile)
c.146A>T (p.Lys49Ile)
c.4232A>T (p.Lys1411Ile)
c.3596A>T (p.Lys1199Ile)
c.386A>T (p.Lys129Ile)
5g.177251741A>CCA362351487NSD1c.3780A>C (p.Lys1260Asn)
n.4236A>C
c.4344A>C (p.Lys1448Asn)
n.4050A>C
n.4800A>C
c.4653A>C (p.Lys1551Asn)
c.3846A>C (p.Lys1282Asn)
c.147A>C (p.Lys49Asn)
c.4233A>C (p.Lys1411Asn)
c.3597A>C (p.Lys1199Asn)
c.387A>C (p.Lys129Asn)
5g.177251741A>GCA447725783NSD1c.3780A>G (p.Lys1260=)
n.4236A>G
c.4344A>G (p.Lys1448=)
n.4050A>G
n.4800A>G
c.4653A>G (p.Lys1551=)
c.3846A>G (p.Lys1282=)
c.147A>G (p.Lys49=)
c.4233A>G (p.Lys1411=)
c.3597A>G (p.Lys1199=)
c.387A>G (p.Lys129=)
5g.177251741A>TCA362351488NSD1c.3780A>T (p.Lys1260Asn)
n.4236A>T
c.4344A>T (p.Lys1448Asn)
n.4050A>T
n.4800A>T
c.4653A>T (p.Lys1551Asn)
c.3846A>T (p.Lys1282Asn)
c.147A>T (p.Lys49Asn)
c.4233A>T (p.Lys1411Asn)
c.3597A>T (p.Lys1199Asn)
c.387A>T (p.Lys129Asn)
5g.177251742T>ACA362351490NSD1c.3781T>A (p.Leu1261Met)
n.4237T>A
c.4345T>A (p.Leu1449Met)
n.4051T>A
n.4801T>A
c.4654T>A (p.Leu1552Met)
c.3847T>A (p.Leu1283Met)
c.148T>A (p.Leu50Met)
c.4234T>A (p.Leu1412Met)
c.3598T>A (p.Leu1200Met)
c.388T>A (p.Leu130Met)
5g.177251742T>CCA447725784NSD1c.3781T>C (p.Leu1261=)
n.4237T>C
c.4345T>C (p.Leu1449=)
n.4051T>C
n.4801T>C
c.4654T>C (p.Leu1552=)
c.3847T>C (p.Leu1283=)
c.148T>C (p.Leu50=)
c.4234T>C (p.Leu1412=)
c.3598T>C (p.Leu1200=)
c.388T>C (p.Leu130=)
5g.177251742T>GCA362351494NSD1c.3781T>G (p.Leu1261Val)
n.4237T>G
c.4345T>G (p.Leu1449Val)
n.4051T>G
n.4801T>G
c.4654T>G (p.Leu1552Val)
c.3847T>G (p.Leu1283Val)
c.148T>G (p.Leu50Val)
c.4234T>G (p.Leu1412Val)
c.3598T>G (p.Leu1200Val)
c.388T>G (p.Leu130Val)
5g.177251743T>ACA362351499NSD1c.3782T>A (p.Leu1261Ter)
n.4238T>A
c.4346T>A (p.Leu1449Ter)
n.4052T>A
n.4802T>A
c.4655T>A (p.Leu1552Ter)
c.3848T>A (p.Leu1283Ter)
c.149T>A (p.Leu50Ter)
c.4235T>A (p.Leu1412Ter)
c.3599T>A (p.Leu1200Ter)
c.389T>A (p.Leu130Ter)
 ClinVar dbSNP
5g.177251743T>CCA362351501NSD1c.3782T>C (p.Leu1261Ser)
n.4238T>C
c.4346T>C (p.Leu1449Ser)
n.4052T>C
n.4802T>C
c.4655T>C (p.Leu1552Ser)
c.3848T>C (p.Leu1283Ser)
c.149T>C (p.Leu50Ser)
c.4235T>C (p.Leu1412Ser)
c.3599T>C (p.Leu1200Ser)
c.389T>C (p.Leu130Ser)
5g.177251743T>GCA362351502NSD1c.3782T>G (p.Leu1261Trp)
n.4238T>G
c.4346T>G (p.Leu1449Trp)
n.4052T>G
n.4802T>G
c.4655T>G (p.Leu1552Trp)
c.3848T>G (p.Leu1283Trp)
c.149T>G (p.Leu50Trp)
c.4235T>G (p.Leu1412Trp)
c.3599T>G (p.Leu1200Trp)
c.389T>G (p.Leu130Trp)
5g.177251743_177251744delinsTGCA1603529641NSD1c.3782_3783delinsTG (p.Leu1261=)
n.4238_4239delinsTG
c.4346_4347delinsTG (p.Leu1449=)
n.4052_4053delinsTG
n.4802_4803delinsTG
c.4655_4656delinsTG (p.Leu1552=)
c.3848_3849delinsTG (p.Leu1283=)
c.149_150delinsTG (p.Leu50=)
c.4235_4236delinsTG (p.Leu1412=)
c.3599_3600delinsTG (p.Leu1200=)
c.389_390delinsTG (p.Leu130=)
5g.177251744G>ACA132862228NSD1c.3783G>A (p.Leu1261=)
n.4239G>A
c.4347G>A (p.Leu1449=)
n.4053G>A
n.4803G>A
c.4656G>A (p.Leu1552=)
c.3849G>A (p.Leu1283=)
c.150G>A (p.Leu50=)
c.4236G>A (p.Leu1412=)
c.3600G>A (p.Leu1200=)
c.390G>A (p.Leu130=)
 dbSNP gnomAD v4
5g.177251744G>CCA362351508NSD1c.3783G>C (p.Leu1261Phe)
n.4239G>C
c.4347G>C (p.Leu1449Phe)
n.4053G>C
n.4803G>C
c.4656G>C (p.Leu1552Phe)
c.3849G>C (p.Leu1283Phe)
c.150G>C (p.Leu50Phe)
c.4236G>C (p.Leu1412Phe)
c.3600G>C (p.Leu1200Phe)
c.390G>C (p.Leu130Phe)
5g.177251744G=CA1603529650NSD1c.3783G= (p.Leu1261=)
n.4239G=
c.4347G= (p.Leu1449=)
n.4053G=
n.4803G=
c.4656G= (p.Leu1552=)
c.3849G= (p.Leu1283=)
c.150G= (p.Leu50=)
c.4236G= (p.Leu1412=)
c.3600G= (p.Leu1200=)
c.390G= (p.Leu130=)
5g.177251744G>TCA362351505NSD1c.3783G>T (p.Leu1261Phe)
n.4239G>T
c.4347G>T (p.Leu1449Phe)
n.4053G>T
n.4803G>T
c.4656G>T (p.Leu1552Phe)
c.3849G>T (p.Leu1283Phe)
c.150G>T (p.Leu50Phe)
c.4236G>T (p.Leu1412Phe)
c.3600G>T (p.Leu1200Phe)
c.390G>T (p.Leu130Phe)
5g.177251746delCA10602918NSD1c.3785del (p.Gly1262ValfsTer21)
n.4241del
c.4349del (p.Gly1450ValfsTer21)
n.4055del
n.4805del
c.4658del (p.Gly1553ValfsTer21)
c.3851del (p.Gly1284ValfsTer21)
c.152del (p.Gly51ValfsTer21)
c.4238del (p.Gly1413ValfsTer21)
c.3602del (p.Gly1201ValfsTer21)
c.392del (p.Gly131ValfsTer21)
 ClinVar dbSNP
5g.177251745G>ACA362351519NSD1c.3784G>A (p.Gly1262Ser)
n.4240G>A
c.4348G>A (p.Gly1450Ser)
n.4054G>A
n.4804G>A
c.4657G>A (p.Gly1553Ser)
c.3850G>A (p.Gly1284Ser)
c.151G>A (p.Gly51Ser)
c.4237G>A (p.Gly1413Ser)
c.3601G>A (p.Gly1201Ser)
c.391G>A (p.Gly131Ser)
 dbSNP
5g.177251745G>CCA362351530NSD1c.3784G>C (p.Gly1262Arg)
n.4240G>C
c.4348G>C (p.Gly1450Arg)
n.4054G>C
n.4804G>C
c.4657G>C (p.Gly1553Arg)
c.3850G>C (p.Gly1284Arg)
c.151G>C (p.Gly51Arg)
c.4237G>C (p.Gly1413Arg)
c.3601G>C (p.Gly1201Arg)
c.391G>C (p.Gly131Arg)
5g.177251745G>TCA362351534NSD1c.3784G>T (p.Gly1262Cys)
n.4240G>T
c.4348G>T (p.Gly1450Cys)
n.4054G>T
n.4804G>T
c.4657G>T (p.Gly1553Cys)
c.3850G>T (p.Gly1284Cys)
c.151G>T (p.Gly51Cys)
c.4237G>T (p.Gly1413Cys)
c.3601G>T (p.Gly1201Cys)
c.391G>T (p.Gly131Cys)
5g.177251746G>ACA362351541NSD1c.3785G>A (p.Gly1262Asp)
n.4241G>A
c.4349G>A (p.Gly1450Asp)
n.4055G>A
n.4805G>A
c.4658G>A (p.Gly1553Asp)
c.3851G>A (p.Gly1284Asp)
c.152G>A (p.Gly51Asp)
c.4238G>A (p.Gly1413Asp)
c.3602G>A (p.Gly1201Asp)
c.392G>A (p.Gly131Asp)
5g.177251746G>CCA362351546NSD1c.3785G>C (p.Gly1262Ala)
n.4241G>C
c.4349G>C (p.Gly1450Ala)
n.4055G>C
n.4805G>C
c.4658G>C (p.Gly1553Ala)
c.3851G>C (p.Gly1284Ala)
c.152G>C (p.Gly51Ala)
c.4238G>C (p.Gly1413Ala)
c.3602G>C (p.Gly1201Ala)
c.392G>C (p.Gly131Ala)
5g.177251746G>TCA362351550NSD1c.3785G>T (p.Gly1262Val)
n.4241G>T
c.4349G>T (p.Gly1450Val)
n.4055G>T
n.4805G>T
c.4658G>T (p.Gly1553Val)
c.3851G>T (p.Gly1284Val)
c.152G>T (p.Gly51Val)
c.4238G>T (p.Gly1413Val)
c.3602G>T (p.Gly1201Val)
c.392G>T (p.Gly131Val)
5g.177251747T>ACA447725785NSD1c.3786T>A (p.Gly1262=)
n.4242T>A
c.4350T>A (p.Gly1450=)
n.4056T>A
n.4806T>A
c.4659T>A (p.Gly1553=)
c.3852T>A (p.Gly1284=)
c.153T>A (p.Gly51=)
c.4239T>A (p.Gly1413=)
c.3603T>A (p.Gly1201=)
c.393T>A (p.Gly131=)
 gnomAD v4
5g.177251747T>CCA447725786NSD1c.3786T>C (p.Gly1262=)
n.4242T>C
c.4350T>C (p.Gly1450=)
n.4056T>C
n.4806T>C
c.4659T>C (p.Gly1553=)
c.3852T>C (p.Gly1284=)
c.153T>C (p.Gly51=)
c.4239T>C (p.Gly1413=)
c.3603T>C (p.Gly1201=)
c.393T>C (p.Gly131=)
5g.177251747T>GCA447725787NSD1c.3786T>G (p.Gly1262=)
n.4242T>G
c.4350T>G (p.Gly1450=)
n.4056T>G
n.4806T>G
c.4659T>G (p.Gly1553=)
c.3852T>G (p.Gly1284=)
c.153T>G (p.Gly51=)
c.4239T>G (p.Gly1413=)
c.3603T>G (p.Gly1201=)
c.393T>G (p.Gly131=)
 gnomAD v4
5g.177251748G>ACA362351555NSD1c.3787G>A (p.Glu1263Lys)
n.4243G>A
c.4351G>A (p.Glu1451Lys)
n.4057G>A
n.4807G>A
c.4660G>A (p.Glu1554Lys)
c.3853G>A (p.Glu1285Lys)
c.154G>A (p.Glu52Lys)
c.4240G>A (p.Glu1414Lys)
c.3604G>A (p.Glu1202Lys)
c.394G>A (p.Glu132Lys)
5g.177251748G>CCA362351556NSD1c.3787G>C (p.Glu1263Gln)
n.4243G>C
c.4351G>C (p.Glu1451Gln)
n.4057G>C
n.4807G>C
c.4660G>C (p.Glu1554Gln)
c.3853G>C (p.Glu1285Gln)
c.154G>C (p.Glu52Gln)
c.4240G>C (p.Glu1414Gln)
c.3604G>C (p.Glu1202Gln)
c.394G>C (p.Glu132Gln)
5g.177251748G>TCA362351558NSD1c.3787G>T (p.Glu1263Ter)
n.4243G>T
c.4351G>T (p.Glu1451Ter)
n.4057G>T
n.4807G>T
c.4660G>T (p.Glu1554Ter)
c.3853G>T (p.Glu1285Ter)
c.154G>T (p.Glu52Ter)
c.4240G>T (p.Glu1414Ter)
c.3604G>T (p.Glu1202Ter)
c.394G>T (p.Glu132Ter)
5g.177251749A>CCA362351560NSD1c.3788A>C (p.Glu1263Ala)
n.4244A>C
c.4352A>C (p.Glu1451Ala)
n.4058A>C
n.4808A>C
c.4661A>C (p.Glu1554Ala)
c.3854A>C (p.Glu1285Ala)
c.155A>C (p.Glu52Ala)
c.4241A>C (p.Glu1414Ala)
c.3605A>C (p.Glu1202Ala)
c.395A>C (p.Glu132Ala)
5g.177251749A>GCA362351562NSD1c.3788A>G (p.Glu1263Gly)
n.4244A>G
c.4352A>G (p.Glu1451Gly)
n.4058A>G
n.4808A>G
c.4661A>G (p.Glu1554Gly)
c.3854A>G (p.Glu1285Gly)
c.155A>G (p.Glu52Gly)
c.4241A>G (p.Glu1414Gly)
c.3605A>G (p.Glu1202Gly)
c.395A>G (p.Glu132Gly)
5g.177251749A>TCA362351565NSD1c.3788A>T (p.Glu1263Val)
n.4244A>T
c.4352A>T (p.Glu1451Val)
n.4058A>T
n.4808A>T
c.4661A>T (p.Glu1554Val)
c.3854A>T (p.Glu1285Val)
c.155A>T (p.Glu52Val)
c.4241A>T (p.Glu1414Val)
c.3605A>T (p.Glu1202Val)
c.395A>T (p.Glu132Val)
5g.177251750G>ACA447725788NSD1c.3789G>A (p.Glu1263=)
n.4245G>A
c.4353G>A (p.Glu1451=)
n.4059G>A
n.4809G>A
c.4662G>A (p.Glu1554=)
c.3855G>A (p.Glu1285=)
c.156G>A (p.Glu52=)
c.4242G>A (p.Glu1414=)
c.3606G>A (p.Glu1202=)
c.396G>A (p.Glu132=)
5g.177251750G>CCA362351566NSD1c.3789G>C (p.Glu1263Asp)
n.4245G>C
c.4353G>C (p.Glu1451Asp)
n.4059G>C
n.4809G>C
c.4662G>C (p.Glu1554Asp)
c.3855G>C (p.Glu1285Asp)
c.156G>C (p.Glu52Asp)
c.4242G>C (p.Glu1414Asp)
c.3606G>C (p.Glu1202Asp)
c.396G>C (p.Glu132Asp)
5g.177251750G>TCA362351567NSD1c.3789G>T (p.Glu1263Asp)
n.4245G>T
c.4353G>T (p.Glu1451Asp)
n.4059G>T
n.4809G>T
c.4662G>T (p.Glu1554Asp)
c.3855G>T (p.Glu1285Asp)
c.156G>T (p.Glu52Asp)
c.4242G>T (p.Glu1414Asp)
c.3606G>T (p.Glu1202Asp)
c.396G>T (p.Glu132Asp)
5g.177251751C>ACA362351572NSD1c.3790C>A (p.Leu1264Met)
n.4246C>A
c.4354C>A (p.Leu1452Met)
n.4060C>A
n.4810C>A
c.4663C>A (p.Leu1555Met)
c.3856C>A (p.Leu1286Met)
c.157C>A (p.Leu53Met)
c.4243C>A (p.Leu1415Met)
c.3607C>A (p.Leu1203Met)
c.397C>A (p.Leu133Met)
5g.177251751C>GCA362351570NSD1c.3790C>G (p.Leu1264Val)
n.4246C>G
c.4354C>G (p.Leu1452Val)
n.4060C>G
n.4810C>G
c.4663C>G (p.Leu1555Val)
c.3856C>G (p.Leu1286Val)
c.157C>G (p.Leu53Val)
c.4243C>G (p.Leu1415Val)
c.3607C>G (p.Leu1203Val)
c.397C>G (p.Leu133Val)
5g.177251751C>TCA447725789NSD1c.3790C>T (p.Leu1264=)
n.4246C>T
c.4354C>T (p.Leu1452=)
n.4060C>T
n.4810C>T
c.4663C>T (p.Leu1555=)
c.3856C>T (p.Leu1286=)
c.157C>T (p.Leu53=)
c.4243C>T (p.Leu1415=)
c.3607C>T (p.Leu1203=)
c.397C>T (p.Leu133=)
5g.177251752T>ACA362351577NSD1c.3791T>A (p.Leu1264Gln)
n.4247T>A
c.4355T>A (p.Leu1452Gln)
n.4061T>A
n.4811T>A
c.4664T>A (p.Leu1555Gln)
c.3857T>A (p.Leu1286Gln)
c.158T>A (p.Leu53Gln)
c.4244T>A (p.Leu1415Gln)
c.3608T>A (p.Leu1203Gln)
c.398T>A (p.Leu133Gln)
5g.177251752T>CCA362351582NSD1c.3791T>C (p.Leu1264Pro)
n.4247T>C
c.4355T>C (p.Leu1452Pro)
n.4061T>C
n.4811T>C
c.4664T>C (p.Leu1555Pro)
c.3857T>C (p.Leu1286Pro)
c.158T>C (p.Leu53Pro)
c.4244T>C (p.Leu1415Pro)
c.3608T>C (p.Leu1203Pro)
c.398T>C (p.Leu133Pro)
5g.177251752T>GCA362351585NSD1c.3791T>G (p.Leu1264Arg)
n.4247T>G
c.4355T>G (p.Leu1452Arg)
n.4061T>G
n.4811T>G
c.4664T>G (p.Leu1555Arg)
c.3857T>G (p.Leu1286Arg)
c.158T>G (p.Leu53Arg)
c.4244T>G (p.Leu1415Arg)
c.3608T>G (p.Leu1203Arg)
c.398T>G (p.Leu133Arg)
5g.177251753G>ACA132862238NSD1c.3792G>A (p.Leu1264=)
n.4248G>A
c.4356G>A (p.Leu1452=)
n.4062G>A
n.4812G>A
c.4665G>A (p.Leu1555=)
c.3858G>A (p.Leu1286=)
c.159G>A (p.Leu53=)
c.4245G>A (p.Leu1415=)
c.3609G>A (p.Leu1203=)
c.399G>A (p.Leu133=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177251753G>CCA447725790NSD1c.3792G>C (p.Leu1264=)
n.4248G>C
c.4356G>C (p.Leu1452=)
n.4062G>C
n.4812G>C
c.4665G>C (p.Leu1555=)
c.3858G>C (p.Leu1286=)
c.159G>C (p.Leu53=)
c.4245G>C (p.Leu1415=)
c.3609G>C (p.Leu1203=)
c.399G>C (p.Leu133=)
5g.177251753G=CA1603529658NSD1c.3792G= (p.Leu1264=)
n.4248G=
c.4356G= (p.Leu1452=)
n.4062G=
n.4812G=
c.4665G= (p.Leu1555=)
c.3858G= (p.Leu1286=)
c.159G= (p.Leu53=)
c.4245G= (p.Leu1415=)
c.3609G= (p.Leu1203=)
c.399G= (p.Leu133=)
5g.177251753G>TCA447725791NSD1c.3792G>T (p.Leu1264=)
n.4248G>T
c.4356G>T (p.Leu1452=)
n.4062G>T
n.4812G>T
c.4665G>T (p.Leu1555=)
c.3858G>T (p.Leu1286=)
c.159G>T (p.Leu53=)
c.4245G>T (p.Leu1415=)
c.3609G>T (p.Leu1203=)
c.399G>T (p.Leu133=)
 gnomAD v4
5g.177251754C>ACA362351592NSD1c.3793C>A (p.Leu1265Met)
n.4249C>A
c.4357C>A (p.Leu1453Met)
n.4063C>A
n.4813C>A
c.4666C>A (p.Leu1556Met)
c.3859C>A (p.Leu1287Met)
c.160C>A (p.Leu54Met)
c.4246C>A (p.Leu1416Met)
c.3610C>A (p.Leu1204Met)
c.400C>A (p.Leu134Met)
5g.177251754C>GCA362351597NSD1c.3793C>G (p.Leu1265Val)
n.4249C>G
c.4357C>G (p.Leu1453Val)
n.4063C>G
n.4813C>G
c.4666C>G (p.Leu1556Val)
c.3859C>G (p.Leu1287Val)
c.160C>G (p.Leu54Val)
c.4246C>G (p.Leu1416Val)
c.3610C>G (p.Leu1204Val)
c.400C>G (p.Leu134Val)
5g.177251754C>TCA447725792NSD1c.3793C>T (p.Leu1265=)
n.4249C>T
c.4357C>T (p.Leu1453=)
n.4063C>T
n.4813C>T
c.4666C>T (p.Leu1556=)
c.3859C>T (p.Leu1287=)
c.160C>T (p.Leu54=)
c.4246C>T (p.Leu1416=)
c.3610C>T (p.Leu1204=)
c.400C>T (p.Leu134=)
5g.177251755T>ACA362351598NSD1c.3794T>A (p.Leu1265Gln)
n.4250T>A
c.4358T>A (p.Leu1453Gln)
n.4064T>A
n.4814T>A
c.4667T>A (p.Leu1556Gln)
c.3860T>A (p.Leu1287Gln)
c.161T>A (p.Leu54Gln)
c.4247T>A (p.Leu1416Gln)
c.3611T>A (p.Leu1204Gln)
c.401T>A (p.Leu134Gln)
5g.177251755T>CCA362351599NSD1c.3794T>C (p.Leu1265Pro)
n.4250T>C
c.4358T>C (p.Leu1453Pro)
n.4064T>C
n.4814T>C
c.4667T>C (p.Leu1556Pro)
c.3860T>C (p.Leu1287Pro)
c.161T>C (p.Leu54Pro)
c.4247T>C (p.Leu1416Pro)
c.3611T>C (p.Leu1204Pro)
c.401T>C (p.Leu134Pro)
5g.177251755T>GCA362351600NSD1c.3794T>G (p.Leu1265Arg)
n.4250T>G
c.4358T>G (p.Leu1453Arg)
n.4064T>G
n.4814T>G
c.4667T>G (p.Leu1556Arg)
c.3860T>G (p.Leu1287Arg)
c.161T>G (p.Leu54Arg)
c.4247T>G (p.Leu1416Arg)
c.3611T>G (p.Leu1204Arg)
c.401T>G (p.Leu134Arg)
5g.177251756G>ACA3577688NSD1c.3795G>A (p.Leu1265=)
n.4251G>A
c.4359G>A (p.Leu1453=)
n.4065G>A
n.4815G>A
c.4668G>A (p.Leu1556=)
c.3861G>A (p.Leu1287=)
c.162G>A (p.Leu54=)
c.4248G>A (p.Leu1416=)
c.3612G>A (p.Leu1204=)
c.402G>A (p.Leu134=)
 dbSNP ExAC gnomAD v4
5g.177251756G>CCA447725793NSD1c.3795G>C (p.Leu1265=)
n.4251G>C
c.4359G>C (p.Leu1453=)
n.4065G>C
n.4815G>C
c.4668G>C (p.Leu1556=)
c.3861G>C (p.Leu1287=)
c.162G>C (p.Leu54=)
c.4248G>C (p.Leu1416=)
c.3612G>C (p.Leu1204=)
c.402G>C (p.Leu134=)
5g.177251756G=CA1603529664NSD1c.3795G= (p.Leu1265=)
n.4251G=
c.4359G= (p.Leu1453=)
n.4065G=
n.4815G=
c.4668G= (p.Leu1556=)
c.3861G= (p.Leu1287=)
c.162G= (p.Leu54=)
c.4248G= (p.Leu1416=)
c.3612G= (p.Leu1204=)
c.402G= (p.Leu134=)
5g.177251756G>TCA447725794NSD1c.3795G>T (p.Leu1265=)
n.4251G>T
c.4359G>T (p.Leu1453=)
n.4065G>T
n.4815G>T
c.4668G>T (p.Leu1556=)
c.3861G>T (p.Leu1287=)
c.162G>T (p.Leu54=)
c.4248G>T (p.Leu1416=)
c.3612G>T (p.Leu1204=)
c.402G>T (p.Leu134=)
5g.177251757T>ACA362351611NSD1c.3796T>A (p.Leu1266Ile)
n.4252T>A
c.4360T>A (p.Leu1454Ile)
n.4066T>A
n.4816T>A
c.4669T>A (p.Leu1557Ile)
c.3862T>A (p.Leu1288Ile)
c.163T>A (p.Leu55Ile)
c.4249T>A (p.Leu1417Ile)
c.3613T>A (p.Leu1205Ile)
c.403T>A (p.Leu135Ile)
5g.177251757T>CCA447725795NSD1c.3796T>C (p.Leu1266=)
n.4252T>C
c.4360T>C (p.Leu1454=)
n.4066T>C
n.4816T>C
c.4669T>C (p.Leu1557=)
c.3862T>C (p.Leu1288=)
c.163T>C (p.Leu55=)
c.4249T>C (p.Leu1417=)
c.3613T>C (p.Leu1205=)
c.403T>C (p.Leu135=)
5g.177251757T>GCA362351612NSD1c.3796T>G (p.Leu1266Val)
n.4252T>G
c.4360T>G (p.Leu1454Val)
n.4066T>G
n.4816T>G
c.4669T>G (p.Leu1557Val)
c.3862T>G (p.Leu1288Val)
c.163T>G (p.Leu55Val)
c.4249T>G (p.Leu1417Val)
c.3613T>G (p.Leu1205Val)
c.403T>G (p.Leu135Val)
5g.177251758dupCA2695205790NSD1c.3797dup (p.Leu1266PhefsTer3)
n.4253dup
c.4361dup (p.Leu1454PhefsTer3)
n.4067dup
n.4817dup
c.4670dup (p.Leu1557PhefsTer3)
c.3863dup (p.Leu1288PhefsTer3)
c.164dup (p.Leu55PhefsTer3)
c.4250dup (p.Leu1417PhefsTer3)
c.3614dup (p.Leu1205PhefsTer3)
c.404dup (p.Leu135PhefsTer3)
5g.177251758T>ACA362351633NSD1c.3797T>A (p.Leu1266Ter)
n.4253T>A
c.4361T>A (p.Leu1454Ter)
n.4067T>A
n.4817T>A
c.4670T>A (p.Leu1557Ter)
c.3863T>A (p.Leu1288Ter)
c.164T>A (p.Leu55Ter)
c.4250T>A (p.Leu1417Ter)
c.3614T>A (p.Leu1205Ter)
c.404T>A (p.Leu135Ter)
5g.177251758T>CCA362351615NSD1c.3797T>C (p.Leu1266Ser)
n.4253T>C
c.4361T>C (p.Leu1454Ser)
n.4067T>C
n.4817T>C
c.4670T>C (p.Leu1557Ser)
c.3863T>C (p.Leu1288Ser)
c.164T>C (p.Leu55Ser)
c.4250T>C (p.Leu1417Ser)
c.3614T>C (p.Leu1205Ser)
c.404T>C (p.Leu135Ser)
5g.177251758T>GCA362351613NSD1c.3797T>G (p.Leu1266Ter)
n.4253T>G
c.4361T>G (p.Leu1454Ter)
n.4067T>G
n.4817T>G
c.4670T>G (p.Leu1557Ter)
c.3863T>G (p.Leu1288Ter)
c.164T>G (p.Leu55Ter)
c.4250T>G (p.Leu1417Ter)
c.3614T>G (p.Leu1205Ter)
c.404T>G (p.Leu135Ter)
5g.177251759A>CCA362351640NSD1c.3798A>C (p.Leu1266Phe)
n.4254A>C
c.4362A>C (p.Leu1454Phe)
n.4068A>C
n.4818A>C
c.4671A>C (p.Leu1557Phe)
c.3864A>C (p.Leu1288Phe)
c.165A>C (p.Leu55Phe)
c.4251A>C (p.Leu1417Phe)
c.3615A>C (p.Leu1205Phe)
c.405A>C (p.Leu135Phe)
5g.177251759A>GCA447725796NSD1c.3798A>G (p.Leu1266=)
n.4254A>G
c.4362A>G (p.Leu1454=)
n.4068A>G
n.4818A>G
c.4671A>G (p.Leu1557=)
c.3864A>G (p.Leu1288=)
c.165A>G (p.Leu55=)
c.4251A>G (p.Leu1417=)
c.3615A>G (p.Leu1205=)
c.405A>G (p.Leu135=)
5g.177251759A>TCA362351636NSD1c.3798A>T (p.Leu1266Phe)
n.4254A>T
c.4362A>T (p.Leu1454Phe)
n.4068A>T
n.4818A>T
c.4671A>T (p.Leu1557Phe)
c.3864A>T (p.Leu1288Phe)
c.165A>T (p.Leu55Phe)
c.4251A>T (p.Leu1417Phe)
c.3615A>T (p.Leu1205Phe)
c.405A>T (p.Leu135Phe)
5g.177251760T>ACA362351646NSD1c.3799T>A (p.Cys1267Ser)
n.4255T>A
c.4363T>A (p.Cys1455Ser)
n.4069T>A
n.4819T>A
c.4672T>A (p.Cys1558Ser)
c.3865T>A (p.Cys1289Ser)
c.166T>A (p.Cys56Ser)
c.4252T>A (p.Cys1418Ser)
c.3616T>A (p.Cys1206Ser)
c.406T>A (p.Cys136Ser)
5g.177251760T>CCA362351643NSD1c.3799T>C (p.Cys1267Arg)
n.4255T>C
c.4363T>C (p.Cys1455Arg)
n.4069T>C
n.4819T>C
c.4672T>C (p.Cys1558Arg)
c.3865T>C (p.Cys1289Arg)
c.166T>C (p.Cys56Arg)
c.4252T>C (p.Cys1418Arg)
c.3616T>C (p.Cys1206Arg)
c.406T>C (p.Cys136Arg)
5g.177251760T>GCA362351644NSD1c.3799T>G (p.Cys1267Gly)
n.4255T>G
c.4363T>G (p.Cys1455Gly)
n.4069T>G
n.4819T>G
c.4672T>G (p.Cys1558Gly)
c.3865T>G (p.Cys1289Gly)
c.166T>G (p.Cys56Gly)
c.4252T>G (p.Cys1418Gly)
c.3616T>G (p.Cys1206Gly)
c.406T>G (p.Cys136Gly)
5g.177251760dupCA2499217784NSD1c.3799dup (p.Cys1267LeufsTer2)
n.4255dup
c.4363dup (p.Cys1455LeufsTer2)
n.4069dup
n.4819dup
c.4672dup (p.Cys1558LeufsTer2)
c.3865dup (p.Cys1289LeufsTer2)
c.166dup (p.Cys56LeufsTer2)
c.4252dup (p.Cys1418LeufsTer2)
c.3616dup (p.Cys1206LeufsTer2)
c.406dup (p.Cys136LeufsTer2)
 ClinVar dbSNP
5g.177251762_177251763delCA2739289826NSD1c.3801_3802del (p.Cys1267Ter)
n.4257_4258del
c.4365_4366del (p.Cys1455Ter)
n.4071_4072del
n.4821_4822del
c.4674_4675del (p.Cys1558Ter)
c.3867_3868del (p.Cys1289Ter)
c.168_169del (p.Cys56Ter)
c.4254_4255del (p.Cys1418Ter)
c.3618_3619del (p.Cys1206Ter)
c.408_409del (p.Cys136Ter)
5g.177251761G>ACA362351648NSD1c.3800G>A (p.Cys1267Tyr)
n.4256G>A
c.4364G>A (p.Cys1455Tyr)
n.4070G>A
n.4820G>A
c.4673G>A (p.Cys1558Tyr)
c.3866G>A (p.Cys1289Tyr)
c.167G>A (p.Cys56Tyr)
c.4253G>A (p.Cys1418Tyr)
c.3617G>A (p.Cys1206Tyr)
c.407G>A (p.Cys136Tyr)
5g.177251761G>CCA362351649NSD1c.3800G>C (p.Cys1267Ser)
n.4256G>C
c.4364G>C (p.Cys1455Ser)
n.4070G>C
n.4820G>C
c.4673G>C (p.Cys1558Ser)
c.3866G>C (p.Cys1289Ser)
c.167G>C (p.Cys56Ser)
c.4253G>C (p.Cys1418Ser)
c.3617G>C (p.Cys1206Ser)
c.407G>C (p.Cys136Ser)
5g.177251761G>TCA362351654NSD1c.3800G>T (p.Cys1267Phe)
n.4256G>T
c.4364G>T (p.Cys1455Phe)
n.4070G>T
n.4820G>T
c.4673G>T (p.Cys1558Phe)
c.3866G>T (p.Cys1289Phe)
c.167G>T (p.Cys56Phe)
c.4253G>T (p.Cys1418Phe)
c.3617G>T (p.Cys1206Phe)
c.407G>T (p.Cys136Phe)
5g.177251762T>ACA362351657NSD1c.3801T>A (p.Cys1267Ter)
n.4257T>A
c.4365T>A (p.Cys1455Ter)
n.4071T>A
n.4821T>A
c.4674T>A (p.Cys1558Ter)
c.3867T>A (p.Cys1289Ter)
c.168T>A (p.Cys56Ter)
c.4254T>A (p.Cys1418Ter)
c.3618T>A (p.Cys1206Ter)
c.408T>A (p.Cys136Ter)
5g.177251762T>CCA447725873NSD1c.3801T>C (p.Cys1267=)
n.4257T>C
c.4365T>C (p.Cys1455=)
n.4071T>C
n.4821T>C
c.4674T>C (p.Cys1558=)
c.3867T>C (p.Cys1289=)
c.168T>C (p.Cys56=)
c.4254T>C (p.Cys1418=)
c.3618T>C (p.Cys1206=)
c.408T>C (p.Cys136=)
 gnomAD v4
5g.177251762T>GCA362351659NSD1c.3801T>G (p.Cys1267Trp)
n.4257T>G
c.4365T>G (p.Cys1455Trp)
n.4071T>G
n.4821T>G
c.4674T>G (p.Cys1558Trp)
c.3867T>G (p.Cys1289Trp)
c.168T>G (p.Cys56Trp)
c.4254T>G (p.Cys1418Trp)
c.3618T>G (p.Cys1206Trp)
c.408T>G (p.Cys136Trp)
5g.177251763G>ACA362351663NSD1c.3802G>A (p.Glu1268Lys)
n.4258G>A
c.4366G>A (p.Glu1456Lys)
n.4072G>A
n.4822G>A
c.4675G>A (p.Glu1559Lys)
c.3868G>A (p.Glu1290Lys)
c.169G>A (p.Glu57Lys)
c.4255G>A (p.Glu1419Lys)
c.3619G>A (p.Glu1207Lys)
c.409G>A (p.Glu137Lys)
5g.177251763G>CCA362351665NSD1c.3802G>C (p.Glu1268Gln)
n.4258G>C
c.4366G>C (p.Glu1456Gln)
n.4072G>C
n.4822G>C
c.4675G>C (p.Glu1559Gln)
c.3868G>C (p.Glu1290Gln)
c.169G>C (p.Glu57Gln)
c.4255G>C (p.Glu1419Gln)
c.3619G>C (p.Glu1207Gln)
c.409G>C (p.Glu137Gln)
5g.177251763G>TCA362351668NSD1c.3802G>T (p.Glu1268Ter)
n.4258G>T
c.4366G>T (p.Glu1456Ter)
n.4072G>T
n.4822G>T
c.4675G>T (p.Glu1559Ter)
c.3868G>T (p.Glu1290Ter)
c.169G>T (p.Glu57Ter)
c.4255G>T (p.Glu1419Ter)
c.3619G>T (p.Glu1207Ter)
c.409G>T (p.Glu137Ter)
5g.177251764A>CCA362351671NSD1c.3803A>C (p.Glu1268Ala)
n.4259A>C
c.4367A>C (p.Glu1456Ala)
n.4073A>C
n.4823A>C
c.4676A>C (p.Glu1559Ala)
c.3869A>C (p.Glu1290Ala)
c.170A>C (p.Glu57Ala)
c.4256A>C (p.Glu1419Ala)
c.3620A>C (p.Glu1207Ala)
c.410A>C (p.Glu137Ala)
5g.177251764A>GCA362351674NSD1c.3803A>G (p.Glu1268Gly)
n.4259A>G
c.4367A>G (p.Glu1456Gly)
n.4073A>G
n.4823A>G
c.4676A>G (p.Glu1559Gly)
c.3869A>G (p.Glu1290Gly)
c.170A>G (p.Glu57Gly)
c.4256A>G (p.Glu1419Gly)
c.3620A>G (p.Glu1207Gly)
c.410A>G (p.Glu137Gly)
5g.177251764A>TCA362351676NSD1c.3803A>T (p.Glu1268Val)
n.4259A>T
c.4367A>T (p.Glu1456Val)
n.4073A>T
n.4823A>T
c.4676A>T (p.Glu1559Val)
c.3869A>T (p.Glu1290Val)
c.170A>T (p.Glu57Val)
c.4256A>T (p.Glu1419Val)
c.3620A>T (p.Glu1207Val)
c.410A>T (p.Glu137Val)
5g.177251765G>ACA447725874NSD1c.3804G>A (p.Glu1268=)
n.4260G>A
c.4368G>A (p.Glu1456=)
n.4074G>A
n.4824G>A
c.4677G>A (p.Glu1559=)
c.3870G>A (p.Glu1290=)
c.171G>A (p.Glu57=)
c.4257G>A (p.Glu1419=)
c.3621G>A (p.Glu1207=)
c.411G>A (p.Glu137=)
5g.177251765G>CCA362351679NSD1c.3804G>C (p.Glu1268Asp)
n.4260G>C
c.4368G>C (p.Glu1456Asp)
n.4074G>C
n.4824G>C
c.4677G>C (p.Glu1559Asp)
c.3870G>C (p.Glu1290Asp)
c.171G>C (p.Glu57Asp)
c.4257G>C (p.Glu1419Asp)
c.3621G>C (p.Glu1207Asp)
c.411G>C (p.Glu137Asp)
5g.177251765G>TCA362351682NSD1c.3804G>T (p.Glu1268Asp)
n.4260G>T
c.4368G>T (p.Glu1456Asp)
n.4074G>T
n.4824G>T
c.4677G>T (p.Glu1559Asp)
c.3870G>T (p.Glu1290Asp)
c.171G>T (p.Glu57Asp)
c.4257G>T (p.Glu1419Asp)
c.3621G>T (p.Glu1207Asp)
c.411G>T (p.Glu137Asp)
5g.177251766G>ACA362351685NSD1c.3805G>A (p.Ala1269Thr)
n.4261G>A
c.4369G>A (p.Ala1457Thr)
n.4075G>A
n.4825G>A
c.4678G>A (p.Ala1560Thr)
c.3871G>A (p.Ala1291Thr)
c.172G>A (p.Ala58Thr)
c.4258G>A (p.Ala1420Thr)
c.3622G>A (p.Ala1208Thr)
c.412G>A (p.Ala138Thr)
 dbSNP
5g.177251766G>CCA362351690NSD1c.3805G>C (p.Ala1269Pro)
n.4261G>C
c.4369G>C (p.Ala1457Pro)
n.4075G>C
n.4825G>C
c.4678G>C (p.Ala1560Pro)
c.3871G>C (p.Ala1291Pro)
c.172G>C (p.Ala58Pro)
c.4258G>C (p.Ala1420Pro)
c.3622G>C (p.Ala1208Pro)
c.412G>C (p.Ala138Pro)
5g.177251766G>TCA362351693NSD1c.3805G>T (p.Ala1269Ser)
n.4261G>T
c.4369G>T (p.Ala1457Ser)
n.4075G>T
n.4825G>T
c.4678G>T (p.Ala1560Ser)
c.3871G>T (p.Ala1291Ser)
c.172G>T (p.Ala58Ser)
c.4258G>T (p.Ala1420Ser)
c.3622G>T (p.Ala1208Ser)
c.412G>T (p.Ala138Ser)
5g.177251767C>ACA362351695NSD1c.3806C>A (p.Ala1269Asp)
n.4262C>A
c.4370C>A (p.Ala1457Asp)
n.4076C>A
n.4826C>A
c.4679C>A (p.Ala1560Asp)
c.3872C>A (p.Ala1291Asp)
c.173C>A (p.Ala58Asp)
c.4259C>A (p.Ala1420Asp)
c.3623C>A (p.Ala1208Asp)
c.413C>A (p.Ala138Asp)
 dbSNP
5g.177251767C>GCA362351696NSD1c.3806C>G (p.Ala1269Gly)
n.4262C>G
c.4370C>G (p.Ala1457Gly)
n.4076C>G
n.4826C>G
c.4679C>G (p.Ala1560Gly)
c.3872C>G (p.Ala1291Gly)
c.173C>G (p.Ala58Gly)
c.4259C>G (p.Ala1420Gly)
c.3623C>G (p.Ala1208Gly)
c.413C>G (p.Ala138Gly)
5g.177251767C>TCA362351698NSD1c.3806C>T (p.Ala1269Val)
n.4262C>T
c.4370C>T (p.Ala1457Val)
n.4076C>T
n.4826C>T
c.4679C>T (p.Ala1560Val)
c.3872C>T (p.Ala1291Val)
c.173C>T (p.Ala58Val)
c.4259C>T (p.Ala1420Val)
c.3623C>T (p.Ala1208Val)
c.413C>T (p.Ala138Val)
5g.177251768T>ACA447725875NSD1c.3807T>A (p.Ala1269=)
n.4263T>A
c.4371T>A (p.Ala1457=)
n.4077T>A
n.4827T>A
c.4680T>A (p.Ala1560=)
c.3873T>A (p.Ala1291=)
c.174T>A (p.Ala58=)
c.4260T>A (p.Ala1420=)
c.3624T>A (p.Ala1208=)
c.414T>A (p.Ala138=)
5g.177251768T>CCA447725877NSD1c.3807T>C (p.Ala1269=)
n.4263T>C
c.4371T>C (p.Ala1457=)
n.4077T>C
n.4827T>C
c.4680T>C (p.Ala1560=)
c.3873T>C (p.Ala1291=)
c.174T>C (p.Ala58=)
c.4260T>C (p.Ala1420=)
c.3624T>C (p.Ala1208=)
c.414T>C (p.Ala138=)
 dbSNP gnomAD v3 gnomAD v4
5g.177251768T>GCA447725876NSD1c.3807T>G (p.Ala1269=)
n.4263T>G
c.4371T>G (p.Ala1457=)
n.4077T>G
n.4827T>G
c.4680T>G (p.Ala1560=)
c.3873T>G (p.Ala1291=)
c.174T>G (p.Ala58=)
c.4260T>G (p.Ala1420=)
c.3624T>G (p.Ala1208=)
c.414T>G (p.Ala138=)
 COSMIC COSMIC
5g.177251768T=CA1603529669NSD1c.3807T= (p.Ala1269=)
n.4263T=
c.4371T= (p.Ala1457=)
n.4077T=
n.4827T=
c.4680T= (p.Ala1560=)
c.3873T= (p.Ala1291=)
c.174T= (p.Ala58=)
c.4260T= (p.Ala1420=)
c.3624T= (p.Ala1208=)
c.414T= (p.Ala138=)
5g.177251769C>ACA362351703NSD1c.3808C>A (p.Gln1270Lys)
n.4264C>A
c.4372C>A (p.Gln1458Lys)
n.4078C>A
n.4828C>A
c.4681C>A (p.Gln1561Lys)
c.3874C>A (p.Gln1292Lys)
c.175C>A (p.Gln59Lys)
c.4261C>A (p.Gln1421Lys)
c.3625C>A (p.Gln1209Lys)
c.415C>A (p.Gln139Lys)
5g.177251769C=CA1603529676NSD1c.3808C= (p.Gln1270=)
n.4264C=
c.4372C= (p.Gln1458=)
n.4078C=
n.4828C=
c.4681C= (p.Gln1561=)
c.3874C= (p.Gln1292=)
c.175C= (p.Gln59=)
c.4261C= (p.Gln1421=)
c.3625C= (p.Gln1209=)
c.415C= (p.Gln139=)
5g.177251769C>GCA362351707NSD1c.3808C>G (p.Gln1270Glu)
n.4264C>G
c.4372C>G (p.Gln1458Glu)
n.4078C>G
n.4828C>G
c.4681C>G (p.Gln1561Glu)
c.3874C>G (p.Gln1292Glu)
c.175C>G (p.Gln59Glu)
c.4261C>G (p.Gln1421Glu)
c.3625C>G (p.Gln1209Glu)
c.415C>G (p.Gln139Glu)
5g.177251769C>TCA294897NSD1c.3808C>T (p.Gln1270Ter)
n.4264C>T
c.4372C>T (p.Gln1458Ter)
n.4078C>T
n.4828C>T
c.4681C>T (p.Gln1561Ter)
c.3874C>T (p.Gln1292Ter)
c.175C>T (p.Gln59Ter)
c.4261C>T (p.Gln1421Ter)
c.3625C>T (p.Gln1209Ter)
c.415C>T (p.Gln139Ter)
 ClinVar dbSNP
5g.177251770A>CCA362351711NSD1c.3809A>C (p.Gln1270Pro)
n.4265A>C
c.4373A>C (p.Gln1458Pro)
n.4079A>C
n.4829A>C
c.4682A>C (p.Gln1561Pro)
c.3875A>C (p.Gln1292Pro)
c.176A>C (p.Gln59Pro)
c.4262A>C (p.Gln1421Pro)
c.3626A>C (p.Gln1209Pro)
c.416A>C (p.Gln139Pro)
5g.177251770A>GCA362351713NSD1c.3809A>G (p.Gln1270Arg)
n.4265A>G
c.4373A>G (p.Gln1458Arg)
n.4079A>G
n.4829A>G
c.4682A>G (p.Gln1561Arg)
c.3875A>G (p.Gln1292Arg)
c.176A>G (p.Gln59Arg)
c.4262A>G (p.Gln1421Arg)
c.3626A>G (p.Gln1209Arg)
c.416A>G (p.Gln139Arg)
5g.177251770A>TCA362351716NSD1c.3809A>T (p.Gln1270Leu)
n.4265A>T
c.4373A>T (p.Gln1458Leu)
n.4079A>T
n.4829A>T
c.4682A>T (p.Gln1561Leu)
c.3875A>T (p.Gln1292Leu)
c.176A>T (p.Gln59Leu)
c.4262A>T (p.Gln1421Leu)
c.3626A>T (p.Gln1209Leu)
c.416A>T (p.Gln139Leu)
5g.177251771G>ACA447725878NSD1c.3810G>A (p.Gln1270=)
n.4266G>A
c.4374G>A (p.Gln1458=)
n.4080G>A
n.4830G>A
c.4683G>A (p.Gln1561=)
c.3876G>A (p.Gln1292=)
c.177G>A (p.Gln59=)
c.4263G>A (p.Gln1421=)
c.3627G>A (p.Gln1209=)
c.417G>A (p.Gln139=)
5g.177251771G>CCA3577689NSD1c.3810G>C (p.Gln1270His)
n.4266G>C
c.4374G>C (p.Gln1458His)
n.4080G>C
n.4830G>C
c.4683G>C (p.Gln1561His)
c.3876G>C (p.Gln1292His)
c.177G>C (p.Gln59His)
c.4263G>C (p.Gln1421His)
c.3627G>C (p.Gln1209His)
c.417G>C (p.Gln139His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177251771G=CA1603529680NSD1c.3810G= (p.Gln1270=)
n.4266G=
c.4374G= (p.Gln1458=)
n.4080G=
n.4830G=
c.4683G= (p.Gln1561=)
c.3876G= (p.Gln1292=)
c.177G= (p.Gln59=)
c.4263G= (p.Gln1421=)
c.3627G= (p.Gln1209=)
c.417G= (p.Gln139=)
5g.177251771G>TCA362351724NSD1c.3810G>T (p.Gln1270His)
n.4266G>T
c.4374G>T (p.Gln1458His)
n.4080G>T
n.4830G>T
c.4683G>T (p.Gln1561His)
c.3876G>T (p.Gln1292His)
c.177G>T (p.Gln59His)
c.4263G>T (p.Gln1421His)
c.3627G>T (p.Gln1209His)
c.417G>T (p.Gln139His)
5g.177251772T>ACA362351735NSD1c.3811T>A (p.Cys1271Ser)
n.4267T>A
c.4375T>A (p.Cys1459Ser)
n.4081T>A
n.4831T>A
c.4684T>A (p.Cys1562Ser)
c.3877T>A (p.Cys1293Ser)
c.178T>A (p.Cys60Ser)
c.4264T>A (p.Cys1422Ser)
c.3628T>A (p.Cys1210Ser)
c.418T>A (p.Cys140Ser)
5g.177251772T>CCA362351736NSD1c.3811T>C (p.Cys1271Arg)
n.4267T>C
c.4375T>C (p.Cys1459Arg)
n.4081T>C
n.4831T>C
c.4684T>C (p.Cys1562Arg)
c.3877T>C (p.Cys1293Arg)
c.178T>C (p.Cys60Arg)
c.4264T>C (p.Cys1422Arg)
c.3628T>C (p.Cys1210Arg)
c.418T>C (p.Cys140Arg)
5g.177251772T>GCA362351742NSD1c.3811T>G (p.Cys1271Gly)
n.4267T>G
c.4375T>G (p.Cys1459Gly)
n.4081T>G
n.4831T>G
c.4684T>G (p.Cys1562Gly)
c.3877T>G (p.Cys1293Gly)
c.178T>G (p.Cys60Gly)
c.4264T>G (p.Cys1422Gly)
c.3628T>G (p.Cys1210Gly)
c.418T>G (p.Cys140Gly)
5g.177251773G>ACA362351745NSD1c.3812G>A (p.Cys1271Tyr)
n.4268G>A
c.4376G>A (p.Cys1459Tyr)
n.4082G>A
n.4832G>A
c.4685G>A (p.Cys1562Tyr)
c.3878G>A (p.Cys1293Tyr)
c.179G>A (p.Cys60Tyr)
c.4265G>A (p.Cys1422Tyr)
c.3629G>A (p.Cys1210Tyr)
c.419G>A (p.Cys140Tyr)
 dbSNP
5g.177251773G>CCA362351746NSD1c.3812G>C (p.Cys1271Ser)
n.4268G>C
c.4376G>C (p.Cys1459Ser)
n.4082G>C
n.4832G>C
c.4685G>C (p.Cys1562Ser)
c.3878G>C (p.Cys1293Ser)
c.179G>C (p.Cys60Ser)
c.4265G>C (p.Cys1422Ser)
c.3629G>C (p.Cys1210Ser)
c.419G>C (p.Cys140Ser)
5g.177251773G>TCA362351747NSD1c.3812G>T (p.Cys1271Phe)
n.4268G>T
c.4376G>T (p.Cys1459Phe)
n.4082G>T
n.4832G>T
c.4685G>T (p.Cys1562Phe)
c.3878G>T (p.Cys1293Phe)
c.179G>T (p.Cys60Phe)
c.4265G>T (p.Cys1422Phe)
c.3629G>T (p.Cys1210Phe)
c.419G>T (p.Cys140Phe)
5g.177251774C>ACA362351748NSD1c.3813C>A (p.Cys1271Ter)
n.4269C>A
c.4377C>A (p.Cys1459Ter)
n.4083C>A
n.4833C>A
c.4686C>A (p.Cys1562Ter)
c.3879C>A (p.Cys1293Ter)
c.180C>A (p.Cys60Ter)
c.4266C>A (p.Cys1422Ter)
c.3630C>A (p.Cys1210Ter)
c.420C>A (p.Cys140Ter)
5g.177251774C=CA1603529688NSD1c.3813C= (p.Cys1271=)
n.4269C=
c.4377C= (p.Cys1459=)
n.4083C=
n.4833C=
c.4686C= (p.Cys1562=)
c.3879C= (p.Cys1293=)
c.180C= (p.Cys60=)
c.4266C= (p.Cys1422=)
c.3630C= (p.Cys1210=)
c.420C= (p.Cys140=)
5g.177251774C>GCA362351752NSD1c.3813C>G (p.Cys1271Trp)
n.4269C>G
c.4377C>G (p.Cys1459Trp)
n.4083C>G
n.4833C>G
c.4686C>G (p.Cys1562Trp)
c.3879C>G (p.Cys1293Trp)
c.180C>G (p.Cys60Trp)
c.4266C>G (p.Cys1422Trp)
c.3630C>G (p.Cys1210Trp)
c.420C>G (p.Cys140Trp)
5g.177251774C>TCA3577690NSD1c.3813C>T (p.Cys1271=)
n.4269C>T
c.4377C>T (p.Cys1459=)
n.4083C>T
n.4833C>T
c.4686C>T (p.Cys1562=)
c.3879C>T (p.Cys1293=)
c.180C>T (p.Cys60=)
c.4266C>T (p.Cys1422=)
c.3630C>T (p.Cys1210=)
c.420C>T (p.Cys140=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177251775T>ACA362351770NSD1c.3814T>A (p.Cys1272Ser)
n.4270T>A
c.4378T>A (p.Cys1460Ser)
n.4084T>A
n.4834T>A
c.4687T>A (p.Cys1563Ser)
c.3880T>A (p.Cys1294Ser)
c.181T>A (p.Cys61Ser)
c.4267T>A (p.Cys1423Ser)
c.3631T>A (p.Cys1211Ser)
c.421T>A (p.Cys141Ser)
5g.177251775T>CCA362351771NSD1c.3814T>C (p.Cys1272Arg)
n.4270T>C
c.4378T>C (p.Cys1460Arg)
n.4084T>C
n.4834T>C
c.4687T>C (p.Cys1563Arg)
c.3880T>C (p.Cys1294Arg)
c.181T>C (p.Cys61Arg)
c.4267T>C (p.Cys1423Arg)
c.3631T>C (p.Cys1211Arg)
c.421T>C (p.Cys141Arg)
5g.177251775T>GCA362351775NSD1c.3814T>G (p.Cys1272Gly)
n.4270T>G
c.4378T>G (p.Cys1460Gly)
n.4084T>G
n.4834T>G
c.4687T>G (p.Cys1563Gly)
c.3880T>G (p.Cys1294Gly)
c.181T>G (p.Cys61Gly)
c.4267T>G (p.Cys1423Gly)
c.3631T>G (p.Cys1211Gly)
c.421T>G (p.Cys141Gly)
5g.177251776G>ACA362351787NSD1c.3815G>A (p.Cys1272Tyr)
n.4271G>A
c.4379G>A (p.Cys1460Tyr)
n.4085G>A
n.4835G>A
c.4688G>A (p.Cys1563Tyr)
c.3881G>A (p.Cys1294Tyr)
c.182G>A (p.Cys61Tyr)
c.4268G>A (p.Cys1423Tyr)
c.3632G>A (p.Cys1211Tyr)
c.422G>A (p.Cys141Tyr)
 dbSNP
5g.177251776G>CCA362351790NSD1c.3815G>C (p.Cys1272Ser)
n.4271G>C
c.4379G>C (p.Cys1460Ser)
n.4085G>C
n.4835G>C
c.4688G>C (p.Cys1563Ser)
c.3881G>C (p.Cys1294Ser)
c.182G>C (p.Cys61Ser)
c.4268G>C (p.Cys1423Ser)
c.3632G>C (p.Cys1211Ser)
c.422G>C (p.Cys141Ser)
5g.177251776G>TCA362351784NSD1c.3815G>T (p.Cys1272Phe)
n.4271G>T
c.4379G>T (p.Cys1460Phe)
n.4085G>T
n.4835G>T
c.4688G>T (p.Cys1563Phe)
c.3881G>T (p.Cys1294Phe)
c.182G>T (p.Cys61Phe)
c.4268G>T (p.Cys1423Phe)
c.3632G>T (p.Cys1211Phe)
c.422G>T (p.Cys141Phe)
5g.177251777T>ACA362351796NSD1c.3816T>A (p.Cys1272Ter)
n.4272T>A
c.4380T>A (p.Cys1460Ter)
n.4086T>A
n.4836T>A
c.4689T>A (p.Cys1563Ter)
c.3882T>A (p.Cys1294Ter)
c.183T>A (p.Cys61Ter)
c.4269T>A (p.Cys1423Ter)
c.3633T>A (p.Cys1211Ter)
c.423T>A (p.Cys141Ter)
5g.177251777T>CCA447725882NSD1c.3816T>C (p.Cys1272=)
n.4272T>C
c.4380T>C (p.Cys1460=)
n.4086T>C
n.4836T>C
c.4689T>C (p.Cys1563=)
c.3882T>C (p.Cys1294=)
c.183T>C (p.Cys61=)
c.4269T>C (p.Cys1423=)
c.3633T>C (p.Cys1211=)
c.423T>C (p.Cys141=)
 dbSNP
5g.177251777T>GCA362351802NSD1c.3816T>G (p.Cys1272Trp)
n.4272T>G
c.4380T>G (p.Cys1460Trp)
n.4086T>G
n.4836T>G
c.4689T>G (p.Cys1563Trp)
c.3882T>G (p.Cys1294Trp)
c.183T>G (p.Cys61Trp)
c.4269T>G (p.Cys1423Trp)
c.3633T>G (p.Cys1211Trp)
c.423T>G (p.Cys141Trp)
5g.177251777T=CA1603529689NSD1c.3816T= (p.Cys1272=)
n.4272T=
c.4380T= (p.Cys1460=)
n.4086T=
n.4836T=
c.4689T= (p.Cys1563=)
c.3882T= (p.Cys1294=)
c.183T= (p.Cys61=)
c.4269T= (p.Cys1423=)
c.3633T= (p.Cys1211=)
c.423T= (p.Cys141=)
5g.177251778G>ACA362351808NSD1c.3817G>A (p.Gly1273Arg)
n.4273G>A
c.4381G>A (p.Gly1461Arg)
n.4087G>A
n.4837G>A
c.4690G>A (p.Gly1564Arg)
c.3883G>A (p.Gly1295Arg)
c.184G>A (p.Gly62Arg)
c.4270G>A (p.Gly1424Arg)
c.3634G>A (p.Gly1212Arg)
c.424G>A (p.Gly142Arg)
5g.177251778G>CCA362351813NSD1c.3817G>C (p.Gly1273Arg)
n.4273G>C
c.4381G>C (p.Gly1461Arg)
n.4087G>C
n.4837G>C
c.4690G>C (p.Gly1564Arg)
c.3883G>C (p.Gly1295Arg)
c.184G>C (p.Gly62Arg)
c.4270G>C (p.Gly1424Arg)
c.3634G>C (p.Gly1212Arg)
c.424G>C (p.Gly142Arg)
5g.177251778G>TCA362351829NSD1c.3817G>T (p.Gly1273Trp)
n.4273G>T
c.4381G>T (p.Gly1461Trp)
n.4087G>T
n.4837G>T
c.4690G>T (p.Gly1564Trp)
c.3883G>T (p.Gly1295Trp)
c.184G>T (p.Gly62Trp)
c.4270G>T (p.Gly1424Trp)
c.3634G>T (p.Gly1212Trp)
c.424G>T (p.Gly142Trp)
5g.177251779G>ACA362351847NSD1c.3818G>A (p.Gly1273Glu)
n.4274G>A
c.4382G>A (p.Gly1461Glu)
n.4088G>A
n.4838G>A
c.4691G>A (p.Gly1564Glu)
c.3884G>A (p.Gly1295Glu)
c.185G>A (p.Gly62Glu)
c.4271G>A (p.Gly1424Glu)
c.3635G>A (p.Gly1212Glu)
c.425G>A (p.Gly142Glu)
 ClinVar
5g.177251779G>CCA362351844NSD1c.3818G>C (p.Gly1273Ala)
n.4274G>C
c.4382G>C (p.Gly1461Ala)
n.4088G>C
n.4838G>C
c.4691G>C (p.Gly1564Ala)
c.3884G>C (p.Gly1295Ala)
c.185G>C (p.Gly62Ala)
c.4271G>C (p.Gly1424Ala)
c.3635G>C (p.Gly1212Ala)
c.425G>C (p.Gly142Ala)
5g.177251779G>TCA362351846NSD1c.3818G>T (p.Gly1273Val)
n.4274G>T
c.4382G>T (p.Gly1461Val)
n.4088G>T
n.4838G>T
c.4691G>T (p.Gly1564Val)
c.3884G>T (p.Gly1295Val)
c.185G>T (p.Gly62Val)
c.4271G>T (p.Gly1424Val)
c.3635G>T (p.Gly1212Val)
c.425G>T (p.Gly142Val)
5g.177251780G>ACA447725883NSD1c.3819G>A (p.Gly1273=)
n.4275G>A
c.4383G>A (p.Gly1461=)
n.4089G>A
n.4839G>A
c.4692G>A (p.Gly1564=)
c.3885G>A (p.Gly1295=)
c.186G>A (p.Gly62=)
c.4272G>A (p.Gly1424=)
c.3636G>A (p.Gly1212=)
c.426G>A (p.Gly142=)
 dbSNP
5g.177251780G>CCA447725884NSD1c.3819G>C (p.Gly1273=)
n.4275G>C
c.4383G>C (p.Gly1461=)
n.4089G>C
n.4839G>C
c.4692G>C (p.Gly1564=)
c.3885G>C (p.Gly1295=)
c.186G>C (p.Gly62=)
c.4272G>C (p.Gly1424=)
c.3636G>C (p.Gly1212=)
c.426G>C (p.Gly142=)
5g.177251780G=CA1603529690NSD1c.3819G= (p.Gly1273=)
n.4275G=
c.4383G= (p.Gly1461=)
n.4089G=
n.4839G=
c.4692G= (p.Gly1564=)
c.3885G= (p.Gly1295=)
c.186G= (p.Gly62=)
c.4272G= (p.Gly1424=)
c.3636G= (p.Gly1212=)
c.426G= (p.Gly142=)
5g.177251780G>TCA447725885NSD1c.3819G>T (p.Gly1273=)
n.4275G>T
c.4383G>T (p.Gly1461=)
n.4089G>T
n.4839G>T
c.4692G>T (p.Gly1564=)
c.3885G>T (p.Gly1295=)
c.186G>T (p.Gly62=)
c.4272G>T (p.Gly1424=)
c.3636G>T (p.Gly1212=)
c.426G>T (p.Gly142=)
5g.177251781G>ACA362351848NSD1c.3820G>A (p.Ala1274Thr)
n.4276G>A
c.4384G>A (p.Ala1462Thr)
n.4090G>A
n.4840G>A
c.4693G>A (p.Ala1565Thr)
c.3886G>A (p.Ala1296Thr)
c.187G>A (p.Ala63Thr)
c.4273G>A (p.Ala1425Thr)
c.3637G>A (p.Ala1213Thr)
c.427G>A (p.Ala143Thr)
 dbSNP
5g.177251781G>CCA362351849NSD1c.3820G>C (p.Ala1274Pro)
n.4276G>C
c.4384G>C (p.Ala1462Pro)
n.4090G>C
n.4840G>C
c.4693G>C (p.Ala1565Pro)
c.3886G>C (p.Ala1296Pro)
c.187G>C (p.Ala63Pro)
c.4273G>C (p.Ala1425Pro)
c.3637G>C (p.Ala1213Pro)
c.427G>C (p.Ala143Pro)
5g.177251781G>TCA362351855NSD1c.3820G>T (p.Ala1274Ser)
n.4276G>T
c.4384G>T (p.Ala1462Ser)
n.4090G>T
n.4840G>T
c.4693G>T (p.Ala1565Ser)
c.3886G>T (p.Ala1296Ser)
c.187G>T (p.Ala63Ser)
c.4273G>T (p.Ala1425Ser)
c.3637G>T (p.Ala1213Ser)
c.427G>T (p.Ala143Ser)
5g.177251782C>ACA362351862NSD1c.3821C>A (p.Ala1274Asp)
n.4277C>A
c.4385C>A (p.Ala1462Asp)
n.4091C>A
n.4841C>A
c.4694C>A (p.Ala1565Asp)
c.3887C>A (p.Ala1296Asp)
c.188C>A (p.Ala63Asp)
c.4274C>A (p.Ala1425Asp)
c.3638C>A (p.Ala1213Asp)
c.428C>A (p.Ala143Asp)
5g.177251782C>GCA362351869NSD1c.3821C>G (p.Ala1274Gly)
n.4277C>G
c.4385C>G (p.Ala1462Gly)
n.4091C>G
n.4841C>G
c.4694C>G (p.Ala1565Gly)
c.3887C>G (p.Ala1296Gly)
c.188C>G (p.Ala63Gly)
c.4274C>G (p.Ala1425Gly)
c.3638C>G (p.Ala1213Gly)
c.428C>G (p.Ala143Gly)
5g.177251782C>TCA362351875NSD1c.3821C>T (p.Ala1274Val)
n.4277C>T
c.4385C>T (p.Ala1462Val)
n.4091C>T
n.4841C>T
c.4694C>T (p.Ala1565Val)
c.3887C>T (p.Ala1296Val)
c.188C>T (p.Ala63Val)
c.4274C>T (p.Ala1425Val)
c.3638C>T (p.Ala1213Val)
c.428C>T (p.Ala143Val)
5g.177251783T>ACA447725890NSD1c.3822T>A (p.Ala1274=)
n.4278T>A
c.4386T>A (p.Ala1462=)
n.4092T>A
n.4842T>A
c.4695T>A (p.Ala1565=)
c.3888T>A (p.Ala1296=)
c.189T>A (p.Ala63=)
c.4275T>A (p.Ala1425=)
c.3639T>A (p.Ala1213=)
c.429T>A (p.Ala143=)
5g.177251783T>CCA447725891NSD1c.3822T>C (p.Ala1274=)
n.4278T>C
c.4386T>C (p.Ala1462=)
n.4092T>C
n.4842T>C
c.4695T>C (p.Ala1565=)
c.3888T>C (p.Ala1296=)
c.189T>C (p.Ala63=)
c.4275T>C (p.Ala1425=)
c.3639T>C (p.Ala1213=)
c.429T>C (p.Ala143=)
5g.177251783T>GCA447725889NSD1c.3822T>G (p.Ala1274=)
n.4278T>G
c.4386T>G (p.Ala1462=)
n.4092T>G
n.4842T>G
c.4695T>G (p.Ala1565=)
c.3888T>G (p.Ala1296=)
c.189T>G (p.Ala63=)
c.4275T>G (p.Ala1425=)
c.3639T>G (p.Ala1213=)
c.429T>G (p.Ala143=)
5g.177251784T>ACA362351877NSD1c.3823T>A (p.Phe1275Ile)
n.4279T>A
c.4387T>A (p.Phe1463Ile)
n.4093T>A
n.4843T>A
c.4696T>A (p.Phe1566Ile)
c.3889T>A (p.Phe1297Ile)
c.190T>A (p.Phe64Ile)
c.4276T>A (p.Phe1426Ile)
c.3640T>A (p.Phe1214Ile)
c.430T>A (p.Phe144Ile)
5g.177251784T>CCA362351878NSD1c.3823T>C (p.Phe1275Leu)
n.4279T>C
c.4387T>C (p.Phe1463Leu)
n.4093T>C
n.4843T>C
c.4696T>C (p.Phe1566Leu)
c.3889T>C (p.Phe1297Leu)
c.190T>C (p.Phe64Leu)
c.4276T>C (p.Phe1426Leu)
c.3640T>C (p.Phe1214Leu)
c.430T>C (p.Phe144Leu)
5g.177251784T>GCA362351876NSD1c.3823T>G (p.Phe1275Val)
n.4279T>G
c.4387T>G (p.Phe1463Val)
n.4093T>G
n.4843T>G
c.4696T>G (p.Phe1566Val)
c.3889T>G (p.Phe1297Val)
c.190T>G (p.Phe64Val)
c.4276T>G (p.Phe1426Val)
c.3640T>G (p.Phe1214Val)
c.430T>G (p.Phe144Val)
5g.177251785T>ACA362351879NSD1c.3824T>A (p.Phe1275Tyr)
n.4280T>A
c.4388T>A (p.Phe1463Tyr)
n.4094T>A
n.4844T>A
c.4697T>A (p.Phe1566Tyr)
c.3890T>A (p.Phe1297Tyr)
c.191T>A (p.Phe64Tyr)
c.4277T>A (p.Phe1426Tyr)
c.3641T>A (p.Phe1214Tyr)
c.431T>A (p.Phe144Tyr)
5g.177251785T>CCA362351886NSD1c.3824T>C (p.Phe1275Ser)
n.4280T>C
c.4388T>C (p.Phe1463Ser)
n.4094T>C
n.4844T>C
c.4697T>C (p.Phe1566Ser)
c.3890T>C (p.Phe1297Ser)
c.191T>C (p.Phe64Ser)
c.4277T>C (p.Phe1426Ser)
c.3641T>C (p.Phe1214Ser)
c.431T>C (p.Phe144Ser)
5g.177251785T>GCA362351883NSD1c.3824T>G (p.Phe1275Cys)
n.4280T>G
c.4388T>G (p.Phe1463Cys)
n.4094T>G
n.4844T>G
c.4697T>G (p.Phe1566Cys)
c.3890T>G (p.Phe1297Cys)
c.191T>G (p.Phe64Cys)
c.4277T>G (p.Phe1426Cys)
c.3641T>G (p.Phe1214Cys)
c.431T>G (p.Phe144Cys)
5g.177251786C>ACA362351894NSD1c.3825C>A (p.Phe1275Leu)
n.4281C>A
c.4389C>A (p.Phe1463Leu)
n.4095C>A
n.4845C>A
c.4698C>A (p.Phe1566Leu)
c.3891C>A (p.Phe1297Leu)
c.192C>A (p.Phe64Leu)
c.4278C>A (p.Phe1426Leu)
c.3642C>A (p.Phe1214Leu)
c.432C>A (p.Phe144Leu)
5g.177251786C>GCA362351897NSD1c.3825C>G (p.Phe1275Leu)
n.4281C>G
c.4389C>G (p.Phe1463Leu)
n.4095C>G
n.4845C>G
c.4698C>G (p.Phe1566Leu)
c.3891C>G (p.Phe1297Leu)
c.192C>G (p.Phe64Leu)
c.4278C>G (p.Phe1426Leu)
c.3642C>G (p.Phe1214Leu)
c.432C>G (p.Phe144Leu)
5g.177251786C>TCA447725893NSD1c.3825C>T (p.Phe1275=)
n.4281C>T
c.4389C>T (p.Phe1463=)
n.4095C>T
n.4845C>T
c.4698C>T (p.Phe1566=)
c.3891C>T (p.Phe1297=)
c.192C>T (p.Phe64=)
c.4278C>T (p.Phe1426=)
c.3642C>T (p.Phe1214=)
c.432C>T (p.Phe144=)
5g.177251787delCA2695205791NSD1c.3826del (p.His1276ThrfsTer7)
n.4282del
c.4390del (p.His1464ThrfsTer7)
n.4096del
n.4846del
c.4699del (p.His1567ThrfsTer7)
c.3892del (p.His1298ThrfsTer7)
c.193del (p.His65ThrfsTer7)
c.4279del (p.His1427ThrfsTer7)
c.3643del (p.His1215ThrfsTer7)
c.433del (p.His145ThrfsTer7)
5g.177251787C>ACA362351899NSD1c.3826C>A (p.His1276Asn)
n.4282C>A
c.4390C>A (p.His1464Asn)
n.4096C>A
n.4846C>A
c.4699C>A (p.His1567Asn)
c.3892C>A (p.His1298Asn)
c.193C>A (p.His65Asn)
c.4279C>A (p.His1427Asn)
c.3643C>A (p.His1215Asn)
c.433C>A (p.His145Asn)
 dbSNP
5g.177251787C>GCA362351900NSD1c.3826C>G (p.His1276Asp)
n.4282C>G
c.4390C>G (p.His1464Asp)
n.4096C>G
n.4846C>G
c.4699C>G (p.His1567Asp)
c.3892C>G (p.His1298Asp)
c.193C>G (p.His65Asp)
c.4279C>G (p.His1427Asp)
c.3643C>G (p.His1215Asp)
c.433C>G (p.His145Asp)
5g.177251787C>TCA362351901NSD1c.3826C>T (p.His1276Tyr)
n.4282C>T
c.4390C>T (p.His1464Tyr)
n.4096C>T
n.4846C>T
c.4699C>T (p.His1567Tyr)
c.3892C>T (p.His1298Tyr)
c.193C>T (p.His65Tyr)
c.4279C>T (p.His1427Tyr)
c.3643C>T (p.His1215Tyr)
c.433C>T (p.His145Tyr)
5g.177251788A>CCA362351904NSD1c.3827A>C (p.His1276Pro)
n.4283A>C
c.4391A>C (p.His1464Pro)
n.4097A>C
n.4847A>C
c.4700A>C (p.His1567Pro)
c.3893A>C (p.His1298Pro)
c.194A>C (p.His65Pro)
c.4280A>C (p.His1427Pro)
c.3644A>C (p.His1215Pro)
c.434A>C (p.His145Pro)
5g.177251788A>GCA362351905NSD1c.3827A>G (p.His1276Arg)
n.4283A>G
c.4391A>G (p.His1464Arg)
n.4097A>G
n.4847A>G
c.4700A>G (p.His1567Arg)
c.3893A>G (p.His1298Arg)
c.194A>G (p.His65Arg)
c.4280A>G (p.His1427Arg)
c.3644A>G (p.His1215Arg)
c.434A>G (p.His145Arg)
5g.177251788A>TCA362351911NSD1c.3827A>T (p.His1276Leu)
n.4283A>T
c.4391A>T (p.His1464Leu)
n.4097A>T
n.4847A>T
c.4700A>T (p.His1567Leu)
c.3893A>T (p.His1298Leu)
c.194A>T (p.His65Leu)
c.4280A>T (p.His1427Leu)
c.3644A>T (p.His1215Leu)
c.434A>T (p.His145Leu)
5g.177251788_177251789delinsACCA1603529693NSD1c.3827_3828delinsAC (p.His1276=)
n.4283_4284delinsAC
c.4391_4392delinsAC (p.His1464=)
n.4097_4098delinsAC
n.4847_4848delinsAC
c.4700_4701delinsAC (p.His1567=)
c.3893_3894delinsAC (p.His1298=)
c.194_195delinsAC (p.His65=)
c.4280_4281delinsAC (p.His1427=)
c.3644_3645delinsAC (p.His1215=)
c.434_435delinsAC (p.His145=)
5g.177251789C>ACA362351915NSD1c.3828C>A (p.His1276Gln)
n.4284C>A
c.4392C>A (p.His1464Gln)
n.4098C>A
n.4848C>A
c.4701C>A (p.His1567Gln)
c.3894C>A (p.His1298Gln)
c.195C>A (p.His65Gln)
c.4281C>A (p.His1427Gln)
c.3645C>A (p.His1215Gln)
c.435C>A (p.His145Gln)
 ClinVar dbSNP
5g.177251789C>GCA362351917NSD1c.3828C>G (p.His1276Gln)
n.4284C>G
c.4392C>G (p.His1464Gln)
n.4098C>G
n.4848C>G
c.4701C>G (p.His1567Gln)
c.3894C>G (p.His1298Gln)
c.195C>G (p.His65Gln)
c.4281C>G (p.His1427Gln)
c.3645C>G (p.His1215Gln)
c.435C>G (p.His145Gln)
5g.177251789C>TCA447725897NSD1c.3828C>T (p.His1276=)
n.4284C>T
c.4392C>T (p.His1464=)
n.4098C>T
n.4848C>T
c.4701C>T (p.His1567=)
c.3894C>T (p.His1298=)
c.195C>T (p.His65=)
c.4281C>T (p.His1427=)
c.3645C>T (p.His1215=)
c.435C>T (p.His145=)
 gnomAD v4
5g.177251789_177251790delCA2533293329NSD1c.3828_3829del (p.Leu1277GlyfsTer7)
n.4284_4285del
c.4392_4393del (p.Leu1465GlyfsTer7)
n.4098_4099del
n.4848_4849del
c.4701_4702del (p.Leu1568GlyfsTer7)
c.3894_3895del (p.Leu1299GlyfsTer7)
c.195_196del (p.Leu66GlyfsTer7)
c.4281_4282del (p.Leu1428GlyfsTer7)
c.3645_3646del (p.Leu1216GlyfsTer7)
c.435_436del (p.Leu146GlyfsTer7)
5g.177251790delCA916081470NSD1c.3829del (p.Leu1277TrpfsTer6)
n.4285del
c.4393del (p.Leu1465TrpfsTer6)
n.4099del
n.4849del
c.4702del (p.Leu1568TrpfsTer6)
c.3895del (p.Leu1299TrpfsTer6)
c.196del (p.Leu66TrpfsTer6)
c.4282del (p.Leu1428TrpfsTer6)
c.3646del (p.Leu1216TrpfsTer6)
c.436del (p.Leu146TrpfsTer6)
 ClinVar dbSNP
5g.177251790C>ACA362351930NSD1c.3829C>A (p.Leu1277Met)
n.4285C>A
c.4393C>A (p.Leu1465Met)
n.4099C>A
n.4849C>A
c.4702C>A (p.Leu1568Met)
c.3895C>A (p.Leu1299Met)
c.196C>A (p.Leu66Met)
c.4282C>A (p.Leu1428Met)
c.3646C>A (p.Leu1216Met)
c.436C>A (p.Leu146Met)
5g.177251790C>GCA362351931NSD1c.3829C>G (p.Leu1277Val)
n.4285C>G
c.4393C>G (p.Leu1465Val)
n.4099C>G
n.4849C>G
c.4702C>G (p.Leu1568Val)
c.3895C>G (p.Leu1299Val)
c.196C>G (p.Leu66Val)
c.4282C>G (p.Leu1428Val)
c.3646C>G (p.Leu1216Val)
c.436C>G (p.Leu146Val)
 gnomAD v4
5g.177251790C>TCA447725898NSD1c.3829C>T (p.Leu1277=)
n.4285C>T
c.4393C>T (p.Leu1465=)
n.4099C>T
n.4849C>T
c.4702C>T (p.Leu1568=)
c.3895C>T (p.Leu1299=)
c.196C>T (p.Leu66=)
c.4282C>T (p.Leu1428=)
c.3646C>T (p.Leu1216=)
c.436C>T (p.Leu146=)
 gnomAD v4
5g.177251791T>ACA362351944NSD1c.3830T>A (p.Leu1277Gln)
n.4286T>A
c.4394T>A (p.Leu1465Gln)
n.4100T>A
n.4850T>A
c.4703T>A (p.Leu1568Gln)
c.3896T>A (p.Leu1299Gln)
c.197T>A (p.Leu66Gln)
c.4283T>A (p.Leu1428Gln)
c.3647T>A (p.Leu1216Gln)
c.437T>A (p.Leu146Gln)
5g.177251791T>CCA362351938NSD1c.3830T>C (p.Leu1277Pro)
n.4286T>C
c.4394T>C (p.Leu1465Pro)
n.4100T>C
n.4850T>C
c.4703T>C (p.Leu1568Pro)
c.3896T>C (p.Leu1299Pro)
c.197T>C (p.Leu66Pro)
c.4283T>C (p.Leu1428Pro)
c.3647T>C (p.Leu1216Pro)
c.437T>C (p.Leu146Pro)
5g.177251791T>GCA362351934NSD1c.3830T>G (p.Leu1277Arg)
n.4286T>G
c.4394T>G (p.Leu1465Arg)
n.4100T>G
n.4850T>G
c.4703T>G (p.Leu1568Arg)
c.3896T>G (p.Leu1299Arg)
c.197T>G (p.Leu66Arg)
c.4283T>G (p.Leu1428Arg)
c.3647T>G (p.Leu1216Arg)
c.437T>G (p.Leu146Arg)
5g.177251791_177251792delinsTGCA1603529699NSD1c.3830_3831delinsTG (p.Leu1277=)
n.4286_4287delinsTG
c.4394_4395delinsTG (p.Leu1465=)
n.4100_4101delinsTG
n.4850_4851delinsTG
c.4703_4704delinsTG (p.Leu1568=)
c.3896_3897delinsTG (p.Leu1299=)
c.197_198delinsTG (p.Leu66=)
c.4283_4284delinsTG (p.Leu1428=)
c.3647_3648delinsTG (p.Leu1216=)
c.437_438delinsTG (p.Leu146=)
5g.177251795_177251804delCA2695205792NSD1c.3834_3843del (p.Glu1278AspfsTer2)
n.4290_4299del
c.4398_4407del (p.Glu1466AspfsTer2)
n.4104_4113del
n.4854_4863del
c.4707_4716del (p.Glu1569AspfsTer2)
c.3900_3909del (p.Glu1300AspfsTer2)
c.201_210del (p.Glu67AspfsTer2)
c.4287_4296del (p.Glu1429AspfsTer2)
c.3651_3660del (p.Glu1217AspfsTer2)
c.441_450del (p.Glu147AspfsTer2)
5g.177251792G>ACA3577691NSD1c.3831G>A (p.Leu1277=)
n.4287G>A
c.4395G>A (p.Leu1465=)
n.4101G>A
n.4851G>A
c.4704G>A (p.Leu1568=)
c.3897G>A (p.Leu1299=)
c.198G>A (p.Leu66=)
c.4284G>A (p.Leu1428=)
c.3648G>A (p.Leu1216=)
c.438G>A (p.Leu146=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177251792G>CCA447725902NSD1c.3831G>C (p.Leu1277=)
n.4287G>C
c.4395G>C (p.Leu1465=)
n.4101G>C
n.4851G>C
c.4704G>C (p.Leu1568=)
c.3897G>C (p.Leu1299=)
c.198G>C (p.Leu66=)
c.4284G>C (p.Leu1428=)
c.3648G>C (p.Leu1216=)
c.438G>C (p.Leu146=)
5g.177251792G=CA1603529713NSD1c.3831G= (p.Leu1277=)
n.4287G=
c.4395G= (p.Leu1465=)
n.4101G=
n.4851G=
c.4704G= (p.Leu1568=)
c.3897G= (p.Leu1299=)
c.198G= (p.Leu66=)
c.4284G= (p.Leu1428=)
c.3648G= (p.Leu1216=)
c.438G= (p.Leu146=)
5g.177251792G>TCA447725903NSD1c.3831G>T (p.Leu1277=)
n.4287G>T
c.4395G>T (p.Leu1465=)
n.4101G>T
n.4851G>T
c.4704G>T (p.Leu1568=)
c.3897G>T (p.Leu1299=)
c.198G>T (p.Leu66=)
c.4284G>T (p.Leu1428=)
c.3648G>T (p.Leu1216=)
c.438G>T (p.Leu146=)
5g.177251793delCA294900NSD1c.3832del (p.Glu1278SerfsTer5)
n.4288del
c.4396del (p.Glu1466SerfsTer5)
n.4102del
n.4852del
c.4705del (p.Glu1569SerfsTer5)
c.3898del (p.Glu1300SerfsTer5)
c.199del (p.Glu67SerfsTer5)
c.4285del (p.Glu1429SerfsTer5)
c.3649del (p.Glu1217SerfsTer5)
c.439del (p.Glu147SerfsTer5)
 ClinVar dbSNP
5g.177251793G>ACA362351957NSD1c.3832G>A (p.Glu1278Lys)
n.4288G>A
c.4396G>A (p.Glu1466Lys)
n.4102G>A
n.4852G>A
c.4705G>A (p.Glu1569Lys)
c.3898G>A (p.Glu1300Lys)
c.199G>A (p.Glu67Lys)
c.4285G>A (p.Glu1429Lys)
c.3649G>A (p.Glu1217Lys)
c.439G>A (p.Glu147Lys)
5g.177251793G>CCA362351963NSD1c.3832G>C (p.Glu1278Gln)
n.4288G>C
c.4396G>C (p.Glu1466Gln)
n.4102G>C
n.4852G>C
c.4705G>C (p.Glu1569Gln)
c.3898G>C (p.Glu1300Gln)
c.199G>C (p.Glu67Gln)
c.4285G>C (p.Glu1429Gln)
c.3649G>C (p.Glu1217Gln)
c.439G>C (p.Glu147Gln)
 dbSNP gnomAD v3 gnomAD v4
5g.177251793G=CA1603529721NSD1c.3832G= (p.Glu1278=)
n.4288G=
c.4396G= (p.Glu1466=)
n.4102G=
n.4852G=
c.4705G= (p.Glu1569=)
c.3898G= (p.Glu1300=)
c.199G= (p.Glu67=)
c.4285G= (p.Glu1429=)
c.3649G= (p.Glu1217=)
c.439G= (p.Glu147=)
5g.177251793G>TCA362351966NSD1c.3832G>T (p.Glu1278Ter)
n.4288G>T
c.4396G>T (p.Glu1466Ter)
n.4102G>T
n.4852G>T
c.4705G>T (p.Glu1569Ter)
c.3898G>T (p.Glu1300Ter)
c.199G>T (p.Glu67Ter)
c.4285G>T (p.Glu1429Ter)
c.3649G>T (p.Glu1217Ter)
c.439G>T (p.Glu147Ter)
5g.177251793_177251799delCA2553824004NSD1c.3832_3838del (p.Glu1278LeufsTer3)
n.4288_4294del
c.4396_4402del (p.Glu1466LeufsTer3)
n.4102_4108del
n.4852_4858del
c.4705_4711del (p.Glu1569LeufsTer3)
c.3898_3904del (p.Glu1300LeufsTer3)
c.199_205del (p.Glu67LeufsTer3)
c.4285_4291del (p.Glu1429LeufsTer3)
c.3649_3655del (p.Glu1217LeufsTer3)
c.439_445del (p.Glu147LeufsTer3)
5g.177251794A>CCA362351969NSD1c.3833A>C (p.Glu1278Ala)
n.4289A>C
c.4397A>C (p.Glu1466Ala)
n.4103A>C
n.4853A>C
c.4706A>C (p.Glu1569Ala)
c.3899A>C (p.Glu1300Ala)
c.200A>C (p.Glu67Ala)
c.4286A>C (p.Glu1429Ala)
c.3650A>C (p.Glu1217Ala)
c.440A>C (p.Glu147Ala)
5g.177251794A>GCA362351983NSD1c.3833A>G (p.Glu1278Gly)
n.4289A>G
c.4397A>G (p.Glu1466Gly)
n.4103A>G
n.4853A>G
c.4706A>G (p.Glu1569Gly)
c.3899A>G (p.Glu1300Gly)
c.200A>G (p.Glu67Gly)
c.4286A>G (p.Glu1429Gly)
c.3650A>G (p.Glu1217Gly)
c.440A>G (p.Glu147Gly)
5g.177251794A>TCA362351986NSD1c.3833A>T (p.Glu1278Val)
n.4289A>T
c.4397A>T (p.Glu1466Val)
n.4103A>T
n.4853A>T
c.4706A>T (p.Glu1569Val)
c.3899A>T (p.Glu1300Val)
c.200A>T (p.Glu67Val)
c.4286A>T (p.Glu1429Val)
c.3650A>T (p.Glu1217Val)
c.440A>T (p.Glu147Val)
5g.177251795G>ACA3577692NSD1c.3834G>A (p.Glu1278=)
n.4290G>A
c.4398G>A (p.Glu1466=)
n.4104G>A
n.4854G>A
c.4707G>A (p.Glu1569=)
c.3900G>A (p.Glu1300=)
c.201G>A (p.Glu67=)
c.4287G>A (p.Glu1429=)
c.3651G>A (p.Glu1217=)
c.441G>A (p.Glu147=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177251795G>CCA362351998NSD1c.3834G>C (p.Glu1278Asp)
n.4290G>C
c.4398G>C (p.Glu1466Asp)
n.4104G>C
n.4854G>C
c.4707G>C (p.Glu1569Asp)
c.3900G>C (p.Glu1300Asp)
c.201G>C (p.Glu67Asp)
c.4287G>C (p.Glu1429Asp)
c.3651G>C (p.Glu1217Asp)
c.441G>C (p.Glu147Asp)
5g.177251795G=CA1603529725NSD1c.3834G= (p.Glu1278=)
n.4290G=
c.4398G= (p.Glu1466=)
n.4104G=
n.4854G=
c.4707G= (p.Glu1569=)
c.3900G= (p.Glu1300=)
c.201G= (p.Glu67=)
c.4287G= (p.Glu1429=)
c.3651G= (p.Glu1217=)
c.441G= (p.Glu147=)
5g.177251795G>TCA362352001NSD1c.3834G>T (p.Glu1278Asp)
n.4290G>T
c.4398G>T (p.Glu1466Asp)
n.4104G>T
n.4854G>T
c.4707G>T (p.Glu1569Asp)
c.3900G>T (p.Glu1300Asp)
c.201G>T (p.Glu67Asp)
c.4287G>T (p.Glu1429Asp)
c.3651G>T (p.Glu1217Asp)
c.441G>T (p.Glu147Asp)
 COSMIC COSMIC
5g.177251796T>ACA362352016NSD1c.3835T>A (p.Cys1279Ser)
n.4291T>A
c.4399T>A (p.Cys1467Ser)
n.4105T>A
n.4855T>A
c.4708T>A (p.Cys1570Ser)
c.3901T>A (p.Cys1301Ser)
c.202T>A (p.Cys68Ser)
c.4288T>A (p.Cys1430Ser)
c.3652T>A (p.Cys1218Ser)
c.442T>A (p.Cys148Ser)
5g.177251796T>CCA362352018NSD1c.3835T>C (p.Cys1279Arg)
n.4291T>C
c.4399T>C (p.Cys1467Arg)
n.4105T>C
n.4855T>C
c.4708T>C (p.Cys1570Arg)
c.3901T>C (p.Cys1301Arg)
c.202T>C (p.Cys68Arg)
c.4288T>C (p.Cys1430Arg)
c.3652T>C (p.Cys1218Arg)
c.442T>C (p.Cys148Arg)
5g.177251796T>GCA362352015NSD1c.3835T>G (p.Cys1279Gly)
n.4291T>G
c.4399T>G (p.Cys1467Gly)
n.4105T>G
n.4855T>G
c.4708T>G (p.Cys1570Gly)
c.3901T>G (p.Cys1301Gly)
c.202T>G (p.Cys68Gly)
c.4288T>G (p.Cys1430Gly)
c.3652T>G (p.Cys1218Gly)
c.442T>G (p.Cys148Gly)
5g.177251797G>ACA362352020NSD1c.3836G>A (p.Cys1279Tyr)
n.4292G>A
c.4400G>A (p.Cys1467Tyr)
n.4106G>A
n.4856G>A
c.4709G>A (p.Cys1570Tyr)
c.3902G>A (p.Cys1301Tyr)
c.203G>A (p.Cys68Tyr)
c.4289G>A (p.Cys1430Tyr)
c.3653G>A (p.Cys1218Tyr)
c.443G>A (p.Cys148Tyr)
 dbSNP
5g.177251797G>CCA362352024NSD1c.3836G>C (p.Cys1279Ser)
n.4292G>C
c.4400G>C (p.Cys1467Ser)
n.4106G>C
n.4856G>C
c.4709G>C (p.Cys1570Ser)
c.3902G>C (p.Cys1301Ser)
c.203G>C (p.Cys68Ser)
c.4289G>C (p.Cys1430Ser)
c.3653G>C (p.Cys1218Ser)
c.443G>C (p.Cys148Ser)
 ClinVar dbSNP
5g.177251797G=CA1603529730NSD1c.3836G= (p.Cys1279=)
n.4292G=
c.4400G= (p.Cys1467=)
n.4106G=
n.4856G=
c.4709G= (p.Cys1570=)
c.3902G= (p.Cys1301=)
c.203G= (p.Cys68=)
c.4289G= (p.Cys1430=)
c.3653G= (p.Cys1218=)
c.443G= (p.Cys148=)
5g.177251797G>TCA362352031NSD1c.3836G>T (p.Cys1279Phe)
n.4292G>T
c.4400G>T (p.Cys1467Phe)
n.4106G>T
n.4856G>T
c.4709G>T (p.Cys1570Phe)
c.3902G>T (p.Cys1301Phe)
c.203G>T (p.Cys68Phe)
c.4289G>T (p.Cys1430Phe)
c.3653G>T (p.Cys1218Phe)
c.443G>T (p.Cys148Phe)
5g.177251798C>ACA362352033NSD1c.3837C>A (p.Cys1279Ter)
n.4293C>A
c.4401C>A (p.Cys1467Ter)
n.4107C>A
n.4857C>A
c.4710C>A (p.Cys1570Ter)
c.3903C>A (p.Cys1301Ter)
c.204C>A (p.Cys68Ter)
c.4290C>A (p.Cys1430Ter)
c.3654C>A (p.Cys1218Ter)
c.444C>A (p.Cys148Ter)
 dbSNP
5g.177251798C>GCA362352041NSD1c.3837C>G (p.Cys1279Trp)
n.4293C>G
c.4401C>G (p.Cys1467Trp)
n.4107C>G
n.4857C>G
c.4710C>G (p.Cys1570Trp)
c.3903C>G (p.Cys1301Trp)
c.204C>G (p.Cys68Trp)
c.4290C>G (p.Cys1430Trp)
c.3654C>G (p.Cys1218Trp)
c.444C>G (p.Cys148Trp)
5g.177251798C>TCA447725908NSD1c.3837C>T (p.Cys1279=)
n.4293C>T
c.4401C>T (p.Cys1467=)
n.4107C>T
n.4857C>T
c.4710C>T (p.Cys1570=)
c.3903C>T (p.Cys1301=)
c.204C>T (p.Cys68=)
c.4290C>T (p.Cys1430=)
c.3654C>T (p.Cys1218=)
c.444C>T (p.Cys148=)
 dbSNP
5g.177251799C>ACA362352044NSD1c.3838C>A (p.Leu1280Ile)
n.4294C>A
c.4402C>A (p.Leu1468Ile)
n.4108C>A
n.4858C>A
c.4711C>A (p.Leu1571Ile)
c.3904C>A (p.Leu1302Ile)
c.205C>A (p.Leu69Ile)
c.4291C>A (p.Leu1431Ile)
c.3655C>A (p.Leu1219Ile)
c.445C>A (p.Leu149Ile)
5g.177251799C=CA1603529736NSD1c.3838C= (p.Leu1280=)
n.4294C=
c.4402C= (p.Leu1468=)
n.4108C=
n.4858C=
c.4711C= (p.Leu1571=)
c.3904C= (p.Leu1302=)
c.205C= (p.Leu69=)
c.4291C= (p.Leu1431=)
c.3655C= (p.Leu1219=)
c.445C= (p.Leu149=)
5g.177251799C>GCA362352053NSD1c.3838C>G (p.Leu1280Val)
n.4294C>G
c.4402C>G (p.Leu1468Val)
n.4108C>G
n.4858C>G
c.4711C>G (p.Leu1571Val)
c.3904C>G (p.Leu1302Val)
c.205C>G (p.Leu69Val)
c.4291C>G (p.Leu1431Val)
c.3655C>G (p.Leu1219Val)
c.445C>G (p.Leu149Val)
5g.177251799C>TCA362352057NSD1c.3838C>T (p.Leu1280Phe)
n.4294C>T
c.4402C>T (p.Leu1468Phe)
n.4108C>T
n.4858C>T
c.4711C>T (p.Leu1571Phe)
c.3904C>T (p.Leu1302Phe)
c.205C>T (p.Leu69Phe)
c.4291C>T (p.Leu1431Phe)
c.3655C>T (p.Leu1219Phe)
c.445C>T (p.Leu149Phe)
 dbSNP
5g.177251800T>ACA362352059NSD1c.3839T>A (p.Leu1280His)
n.4295T>A
c.4403T>A (p.Leu1468His)
n.4109T>A
n.4859T>A
c.4712T>A (p.Leu1571His)
c.3905T>A (p.Leu1302His)
c.206T>A (p.Leu69His)
c.4292T>A (p.Leu1431His)
c.3656T>A (p.Leu1219His)
c.446T>A (p.Leu149His)
5g.177251800T>CCA362352060NSD1c.3839T>C (p.Leu1280Pro)
n.4295T>C
c.4403T>C (p.Leu1468Pro)
n.4109T>C
n.4859T>C
c.4712T>C (p.Leu1571Pro)
c.3905T>C (p.Leu1302Pro)
c.206T>C (p.Leu69Pro)
c.4292T>C (p.Leu1431Pro)
c.3656T>C (p.Leu1219Pro)
c.446T>C (p.Leu149Pro)
5g.177251800T>GCA362352062NSD1c.3839T>G (p.Leu1280Arg)
n.4295T>G
c.4403T>G (p.Leu1468Arg)
n.4109T>G
n.4859T>G
c.4712T>G (p.Leu1571Arg)
c.3905T>G (p.Leu1302Arg)
c.206T>G (p.Leu69Arg)
c.4292T>G (p.Leu1431Arg)
c.3656T>G (p.Leu1219Arg)
c.446T>G (p.Leu149Arg)
5g.177251801T>ACA447725909NSD1c.3840T>A (p.Leu1280=)
n.4296T>A
c.4404T>A (p.Leu1468=)
n.4110T>A
n.4860T>A
c.4713T>A (p.Leu1571=)
c.3906T>A (p.Leu1302=)
c.207T>A (p.Leu69=)
c.4293T>A (p.Leu1431=)
c.3657T>A (p.Leu1219=)
c.447T>A (p.Leu149=)
5g.177251801T>CCA447725910NSD1c.3840T>C (p.Leu1280=)
n.4296T>C
c.4404T>C (p.Leu1468=)
n.4110T>C
n.4860T>C
c.4713T>C (p.Leu1571=)
c.3906T>C (p.Leu1302=)
c.207T>C (p.Leu69=)
c.4293T>C (p.Leu1431=)
c.3657T>C (p.Leu1219=)
c.447T>C (p.Leu149=)
5g.177251801T>GCA447725911NSD1c.3840T>G (p.Leu1280=)
n.4296T>G
c.4404T>G (p.Leu1468=)
n.4110T>G
n.4860T>G
c.4713T>G (p.Leu1571=)
c.3906T>G (p.Leu1302=)
c.207T>G (p.Leu69=)
c.4293T>G (p.Leu1431=)
c.3657T>G (p.Leu1219=)
c.447T>G (p.Leu149=)
5g.177251802G>ACA362352069NSD1c.3841G>A (p.Gly1281Arg)
n.4297G>A
c.4405G>A (p.Gly1469Arg)
n.4111G>A
n.4861G>A
c.4714G>A (p.Gly1572Arg)
c.3907G>A (p.Gly1303Arg)
c.208G>A (p.Gly70Arg)
c.4294G>A (p.Gly1432Arg)
c.3658G>A (p.Gly1220Arg)
c.448G>A (p.Gly150Arg)
 dbSNP
5g.177251802G>CCA362352068NSD1c.3841G>C (p.Gly1281Arg)
n.4297G>C
c.4405G>C (p.Gly1469Arg)
n.4111G>C
n.4861G>C
c.4714G>C (p.Gly1572Arg)
c.3907G>C (p.Gly1303Arg)
c.208G>C (p.Gly70Arg)
c.4294G>C (p.Gly1432Arg)
c.3658G>C (p.Gly1220Arg)
c.448G>C (p.Gly150Arg)
5g.177251802G>TCA362352067NSD1c.3841G>T (p.Gly1281Ter)
n.4297G>T
c.4405G>T (p.Gly1469Ter)
n.4111G>T
n.4861G>T
c.4714G>T (p.Gly1572Ter)
c.3907G>T (p.Gly1303Ter)
c.208G>T (p.Gly70Ter)
c.4294G>T (p.Gly1432Ter)
c.3658G>T (p.Gly1220Ter)
c.448G>T (p.Gly150Ter)
5g.177251802_177251809delCA2528959758NSD1c.3841_3848del (p.Gly1281Ter)
n.4297_4304del
c.4405_4412del (p.Gly1469Ter)
n.4111_4118del
n.4861_4868del
c.4714_4721del (p.Gly1572Ter)
c.3907_3914del (p.Gly1303Ter)
c.208_215del (p.Gly70Ter)
c.4294_4301del (p.Gly1432Ter)
c.3658_3665del (p.Gly1220Ter)
c.448_455del (p.Gly150Ter)
5g.177251803G>ACA362352070NSD1c.3842G>A (p.Gly1281Glu)
n.4298G>A
c.4406G>A (p.Gly1469Glu)
n.4112G>A
n.4862G>A
c.4715G>A (p.Gly1572Glu)
c.3908G>A (p.Gly1303Glu)
c.209G>A (p.Gly70Glu)
c.4295G>A (p.Gly1432Glu)
c.3659G>A (p.Gly1220Glu)
c.449G>A (p.Gly150Glu)
 ClinVar
5g.177251803G>CCA362352072NSD1c.3842G>C (p.Gly1281Ala)
n.4298G>C
c.4406G>C (p.Gly1469Ala)
n.4112G>C
n.4862G>C
c.4715G>C (p.Gly1572Ala)
c.3908G>C (p.Gly1303Ala)
c.209G>C (p.Gly70Ala)
c.4295G>C (p.Gly1432Ala)
c.3659G>C (p.Gly1220Ala)
c.449G>C (p.Gly150Ala)
5g.177251803G>TCA362352074NSD1c.3842G>T (p.Gly1281Val)
n.4298G>T
c.4406G>T (p.Gly1469Val)
n.4112G>T
n.4862G>T
c.4715G>T (p.Gly1572Val)
c.3908G>T (p.Gly1303Val)
c.209G>T (p.Gly70Val)
c.4295G>T (p.Gly1432Val)
c.3659G>T (p.Gly1220Val)
c.449G>T (p.Gly150Val)
5g.177251804A>CCA447725913NSD1c.3843A>C (p.Gly1281=)
n.4299A>C
c.4407A>C (p.Gly1469=)
n.4113A>C
n.4863A>C
c.4716A>C (p.Gly1572=)
c.3909A>C (p.Gly1303=)
c.210A>C (p.Gly70=)
c.4296A>C (p.Gly1432=)
c.3660A>C (p.Gly1220=)
c.450A>C (p.Gly150=)
5g.177251804A>GCA447725914NSD1c.3843A>G (p.Gly1281=)
n.4299A>G
c.4407A>G (p.Gly1469=)
n.4113A>G
n.4863A>G
c.4716A>G (p.Gly1572=)
c.3909A>G (p.Gly1303=)
c.210A>G (p.Gly70=)
c.4296A>G (p.Gly1432=)
c.3660A>G (p.Gly1220=)
c.450A>G (p.Gly150=)
 gnomAD v4
5g.177251804A>TCA447725912NSD1c.3843A>T (p.Gly1281=)
n.4299A>T
c.4407A>T (p.Gly1469=)
n.4113A>T
n.4863A>T
c.4716A>T (p.Gly1572=)
c.3909A>T (p.Gly1303=)
c.210A>T (p.Gly70=)
c.4296A>T (p.Gly1432=)
c.3660A>T (p.Gly1220=)
c.450A>T (p.Gly150=)
5g.177251805T>ACA362352078NSD1c.3844T>A (p.Leu1282Met)
n.4300T>A
c.4408T>A (p.Leu1470Met)
n.4114T>A
n.4864T>A
c.4717T>A (p.Leu1573Met)
c.3910T>A (p.Leu1304Met)
c.211T>A (p.Leu71Met)
c.4297T>A (p.Leu1433Met)
c.3661T>A (p.Leu1221Met)
c.451T>A (p.Leu151Met)
5g.177251805T>CCA447725915NSD1c.3844T>C (p.Leu1282=)
n.4300T>C
c.4408T>C (p.Leu1470=)
n.4114T>C
n.4864T>C
c.4717T>C (p.Leu1573=)
c.3910T>C (p.Leu1304=)
c.211T>C (p.Leu71=)
c.4297T>C (p.Leu1433=)
c.3661T>C (p.Leu1221=)
c.451T>C (p.Leu151=)
5g.177251805T>GCA362352082NSD1c.3844T>G (p.Leu1282Val)
n.4300T>G
c.4408T>G (p.Leu1470Val)
n.4114T>G
n.4864T>G
c.4717T>G (p.Leu1573Val)
c.3910T>G (p.Leu1304Val)
c.211T>G (p.Leu71Val)
c.4297T>G (p.Leu1433Val)
c.3661T>G (p.Leu1221Val)
c.451T>G (p.Leu151Val)
5g.177251806T>ACA362352084NSD1c.3845T>A (p.Leu1282Ter)
n.4301T>A
c.4409T>A (p.Leu1470Ter)
n.4115T>A
n.4865T>A
c.4718T>A (p.Leu1573Ter)
c.3911T>A (p.Leu1304Ter)
c.212T>A (p.Leu71Ter)
c.4298T>A (p.Leu1433Ter)
c.3662T>A (p.Leu1221Ter)
c.452T>A (p.Leu151Ter)
5g.177251806T>CCA362352085NSD1c.3845T>C (p.Leu1282Ser)
n.4301T>C
c.4409T>C (p.Leu1470Ser)
n.4115T>C
n.4865T>C
c.4718T>C (p.Leu1573Ser)
c.3911T>C (p.Leu1304Ser)
c.212T>C (p.Leu71Ser)
c.4298T>C (p.Leu1433Ser)
c.3662T>C (p.Leu1221Ser)
c.452T>C (p.Leu151Ser)
5g.177251806T>GCA362352086NSD1c.3845T>G (p.Leu1282Trp)
n.4301T>G
c.4409T>G (p.Leu1470Trp)
n.4115T>G
n.4865T>G
c.4718T>G (p.Leu1573Trp)
c.3911T>G (p.Leu1304Trp)
c.212T>G (p.Leu71Trp)
c.4298T>G (p.Leu1433Trp)
c.3662T>G (p.Leu1221Trp)
c.452T>G (p.Leu151Trp)
5g.177251807G>ACA447725916NSD1c.3846G>A (p.Leu1282=)
n.4302G>A
c.4410G>A (p.Leu1470=)
n.4116G>A
n.4866G>A
c.4719G>A (p.Leu1573=)
c.3912G>A (p.Leu1304=)
c.213G>A (p.Leu71=)
c.4299G>A (p.Leu1433=)
c.3663G>A (p.Leu1221=)
c.453G>A (p.Leu151=)
5g.177251807G>CCA362352090NSD1c.3846G>C (p.Leu1282Phe)
n.4302G>C
c.4410G>C (p.Leu1470Phe)
n.4116G>C
n.4866G>C
c.4719G>C (p.Leu1573Phe)
c.3912G>C (p.Leu1304Phe)
c.213G>C (p.Leu71Phe)
c.4299G>C (p.Leu1433Phe)
c.3663G>C (p.Leu1221Phe)
c.453G>C (p.Leu151Phe)
 gnomAD v4
5g.177251807G>TCA362352095NSD1c.3846G>T (p.Leu1282Phe)
n.4302G>T
c.4410G>T (p.Leu1470Phe)
n.4116G>T
n.4866G>T
c.4719G>T (p.Leu1573Phe)
c.3912G>T (p.Leu1304Phe)
c.213G>T (p.Leu71Phe)
c.4299G>T (p.Leu1433Phe)
c.3663G>T (p.Leu1221Phe)
c.453G>T (p.Leu151Phe)
5g.177251808A>CCA362352096NSD1c.3847A>C (p.Thr1283Pro)
n.4303A>C
c.4411A>C (p.Thr1471Pro)
n.4117A>C
n.4867A>C
c.4720A>C (p.Thr1574Pro)
c.3913A>C (p.Thr1305Pro)
c.214A>C (p.Thr72Pro)
c.4300A>C (p.Thr1434Pro)
c.3664A>C (p.Thr1222Pro)
c.454A>C (p.Thr152Pro)
5g.177251808A>GCA362352100NSD1c.3847A>G (p.Thr1283Ala)
n.4303A>G
c.4411A>G (p.Thr1471Ala)
n.4117A>G
n.4867A>G
c.4720A>G (p.Thr1574Ala)
c.3913A>G (p.Thr1305Ala)
c.214A>G (p.Thr72Ala)
c.4300A>G (p.Thr1434Ala)
c.3664A>G (p.Thr1222Ala)
c.454A>G (p.Thr152Ala)
5g.177251808A>TCA362352117NSD1c.3847A>T (p.Thr1283Ser)
n.4303A>T
c.4411A>T (p.Thr1471Ser)
n.4117A>T
n.4867A>T
c.4720A>T (p.Thr1574Ser)
c.3913A>T (p.Thr1305Ser)
c.214A>T (p.Thr72Ser)
c.4300A>T (p.Thr1434Ser)
c.3664A>T (p.Thr1222Ser)
c.454A>T (p.Thr152Ser)
5g.177251809C>ACA362352134NSD1c.3848C>A (p.Thr1283Asn)
n.4304C>A
c.4412C>A (p.Thr1471Asn)
n.4118C>A
n.4868C>A
c.4721C>A (p.Thr1574Asn)
c.3914C>A (p.Thr1305Asn)
c.215C>A (p.Thr72Asn)
c.4301C>A (p.Thr1434Asn)
c.3665C>A (p.Thr1222Asn)
c.455C>A (p.Thr152Asn)
5g.177251809C>GCA362352135NSD1c.3848C>G (p.Thr1283Ser)
n.4304C>G
c.4412C>G (p.Thr1471Ser)
n.4118C>G
n.4868C>G
c.4721C>G (p.Thr1574Ser)
c.3914C>G (p.Thr1305Ser)
c.215C>G (p.Thr72Ser)
c.4301C>G (p.Thr1434Ser)
c.3665C>G (p.Thr1222Ser)
c.455C>G (p.Thr152Ser)
5g.177251809C>TCA362352129NSD1c.3848C>T (p.Thr1283Ile)
n.4304C>T
c.4412C>T (p.Thr1471Ile)
n.4118C>T
n.4868C>T
c.4721C>T (p.Thr1574Ile)
c.3914C>T (p.Thr1305Ile)
c.215C>T (p.Thr72Ile)
c.4301C>T (p.Thr1434Ile)
c.3665C>T (p.Thr1222Ile)
c.455C>T (p.Thr152Ile)
5g.177251810T>ACA447725917NSD1c.3849T>A (p.Thr1283=)
n.4305T>A
c.4413T>A (p.Thr1471=)
n.4119T>A
n.4869T>A
c.4722T>A (p.Thr1574=)
c.3915T>A (p.Thr1305=)
c.216T>A (p.Thr72=)
c.4302T>A (p.Thr1434=)
c.3666T>A (p.Thr1222=)
c.456T>A (p.Thr152=)
5g.177251810T>CCA447725919NSD1c.3849T>C (p.Thr1283=)
n.4305T>C
c.4413T>C (p.Thr1471=)
n.4119T>C
n.4869T>C
c.4722T>C (p.Thr1574=)
c.3915T>C (p.Thr1305=)
c.216T>C (p.Thr72=)
c.4302T>C (p.Thr1434=)
c.3666T>C (p.Thr1222=)
c.456T>C (p.Thr152=)
 dbSNP gnomAD v3 gnomAD v4
5g.177251810T>GCA447725918NSD1c.3849T>G (p.Thr1283=)
n.4305T>G
c.4413T>G (p.Thr1471=)
n.4119T>G
n.4869T>G
c.4722T>G (p.Thr1574=)
c.3915T>G (p.Thr1305=)
c.216T>G (p.Thr72=)
c.4302T>G (p.Thr1434=)
c.3666T>G (p.Thr1222=)
c.456T>G (p.Thr152=)
 ClinVar dbSNP gnomAD v4
5g.177251810T=CA1603529742NSD1c.3849T= (p.Thr1283=)
n.4305T=
c.4413T= (p.Thr1471=)
n.4119T=
n.4869T=
c.4722T= (p.Thr1574=)
c.3915T= (p.Thr1305=)
c.216T= (p.Thr72=)
c.4302T= (p.Thr1434=)
c.3666T= (p.Thr1222=)
c.456T= (p.Thr152=)
5g.177251811G>ACA362352146NSD1c.3850G>A (p.Glu1284Lys)
n.4306G>A
c.4414G>A (p.Glu1472Lys)
n.4120G>A
n.4870G>A
c.4723G>A (p.Glu1575Lys)
c.3916G>A (p.Glu1306Lys)
c.217G>A (p.Glu73Lys)
c.4303G>A (p.Glu1435Lys)
c.3667G>A (p.Glu1223Lys)
c.457G>A (p.Glu153Lys)
 gnomAD v4
5g.177251811G>CCA362352141NSD1c.3850G>C (p.Glu1284Gln)
n.4306G>C
c.4414G>C (p.Glu1472Gln)
n.4120G>C
n.4870G>C
c.4723G>C (p.Glu1575Gln)
c.3916G>C (p.Glu1306Gln)
c.217G>C (p.Glu73Gln)
c.4303G>C (p.Glu1435Gln)
c.3667G>C (p.Glu1223Gln)
c.457G>C (p.Glu153Gln)
5g.177251811G>TCA362352143NSD1c.3850G>T (p.Glu1284Ter)
n.4306G>T
c.4414G>T (p.Glu1472Ter)
n.4120G>T
n.4870G>T
c.4723G>T (p.Glu1575Ter)
c.3916G>T (p.Glu1306Ter)
c.217G>T (p.Glu73Ter)
c.4303G>T (p.Glu1435Ter)
c.3667G>T (p.Glu1223Ter)
c.457G>T (p.Glu153Ter)
5g.177251812A=CA1603529753NSD1c.3851A= (p.Glu1284=)
n.4307A=
c.4415A= (p.Glu1472=)
n.4121A=
n.4871A=
c.4724A= (p.Glu1575=)
c.3917A= (p.Glu1306=)
c.218A= (p.Glu73=)
c.4304A= (p.Glu1435=)
c.3668A= (p.Glu1223=)
c.458A= (p.Glu153=)
5g.177251812A>CCA362352148NSD1c.3851A>C (p.Glu1284Ala)
n.4307A>C
c.4415A>C (p.Glu1472Ala)
n.4121A>C
n.4871A>C
c.4724A>C (p.Glu1575Ala)
c.3917A>C (p.Glu1306Ala)
c.218A>C (p.Glu73Ala)
c.4304A>C (p.Glu1435Ala)
c.3668A>C (p.Glu1223Ala)
c.458A>C (p.Glu153Ala)
5g.177251812A>GCA362352150NSD1c.3851A>G (p.Glu1284Gly)
n.4307A>G
c.4415A>G (p.Glu1472Gly)
n.4121A>G
n.4871A>G
c.4724A>G (p.Glu1575Gly)
c.3917A>G (p.Glu1306Gly)
c.218A>G (p.Glu73Gly)
c.4304A>G (p.Glu1435Gly)
c.3668A>G (p.Glu1223Gly)
c.458A>G (p.Glu153Gly)
5g.177251812A>TCA362352153NSD1c.3851A>T (p.Glu1284Val)
n.4307A>T
c.4415A>T (p.Glu1472Val)
n.4121A>T
n.4871A>T
c.4724A>T (p.Glu1575Val)
c.3917A>T (p.Glu1306Val)
c.218A>T (p.Glu73Val)
c.4304A>T (p.Glu1435Val)
c.3668A>T (p.Glu1223Val)
c.458A>T (p.Glu153Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177251813G>ACA447725920NSD1c.3852G>A (p.Glu1284=)
n.4308G>A
c.4416G>A (p.Glu1472=)
n.4122G>A
n.4872G>A
c.4725G>A (p.Glu1575=)
c.3918G>A (p.Glu1306=)
c.219G>A (p.Glu73=)
c.4305G>A (p.Glu1435=)
c.3669G>A (p.Glu1223=)
c.459G>A (p.Glu153=)
5g.177251813G>CCA362352157NSD1c.3852G>C (p.Glu1284Asp)
n.4308G>C
c.4416G>C (p.Glu1472Asp)
n.4122G>C
n.4872G>C
c.4725G>C (p.Glu1575Asp)
c.3918G>C (p.Glu1306Asp)
c.219G>C (p.Glu73Asp)
c.4305G>C (p.Glu1435Asp)
c.3669G>C (p.Glu1223Asp)
c.459G>C (p.Glu153Asp)
5g.177251813G>TCA362352158NSD1c.3852G>T (p.Glu1284Asp)
n.4308G>T
c.4416G>T (p.Glu1472Asp)
n.4122G>T
n.4872G>T
c.4725G>T (p.Glu1575Asp)
c.3918G>T (p.Glu1306Asp)
c.219G>T (p.Glu73Asp)
c.4305G>T (p.Glu1435Asp)
c.3669G>T (p.Glu1223Asp)
c.459G>T (p.Glu153Asp)
5g.177251814A>CCA362352160NSD1c.3853A>C (p.Met1285Leu)
n.4309A>C
c.4417A>C (p.Met1473Leu)
n.4123A>C
n.4873A>C
c.4726A>C (p.Met1576Leu)
c.3919A>C (p.Met1307Leu)
c.220A>C (p.Met74Leu)
c.4306A>C (p.Met1436Leu)
c.3670A>C (p.Met1224Leu)
c.460A>C (p.Met154Leu)
5g.177251814A>GCA362352162NSD1c.3853A>G (p.Met1285Val)
n.4309A>G
c.4417A>G (p.Met1473Val)
n.4123A>G
n.4873A>G
c.4726A>G (p.Met1576Val)
c.3919A>G (p.Met1307Val)
c.220A>G (p.Met74Val)
c.4306A>G (p.Met1436Val)
c.3670A>G (p.Met1224Val)
c.460A>G (p.Met154Val)
5g.177251814A>TCA362352165NSD1c.3853A>T (p.Met1285Leu)
n.4309A>T
c.4417A>T (p.Met1473Leu)
n.4123A>T
n.4873A>T
c.4726A>T (p.Met1576Leu)
c.3919A>T (p.Met1307Leu)
c.220A>T (p.Met74Leu)
c.4306A>T (p.Met1436Leu)
c.3670A>T (p.Met1224Leu)
c.460A>T (p.Met154Leu)
5g.177251815T>ACA362352171NSD1c.3854T>A (p.Met1285Lys)
n.4310T>A
c.4418T>A (p.Met1473Lys)
n.4124T>A
n.4874T>A
c.4727T>A (p.Met1576Lys)
c.3920T>A (p.Met1307Lys)
c.221T>A (p.Met74Lys)
c.4307T>A (p.Met1436Lys)
c.3671T>A (p.Met1224Lys)
c.461T>A (p.Met154Lys)
5g.177251815T>CCA362352177NSD1c.3854T>C (p.Met1285Thr)
n.4310T>C
c.4418T>C (p.Met1473Thr)
n.4124T>C
n.4874T>C
c.4727T>C (p.Met1576Thr)
c.3920T>C (p.Met1307Thr)
c.221T>C (p.Met74Thr)
c.4307T>C (p.Met1436Thr)
c.3671T>C (p.Met1224Thr)
c.461T>C (p.Met154Thr)
5g.177251815T>GCA362352178NSD1c.3854T>G (p.Met1285Arg)
n.4310T>G
c.4418T>G (p.Met1473Arg)
n.4124T>G
n.4874T>G
c.4727T>G (p.Met1576Arg)
c.3920T>G (p.Met1307Arg)
c.221T>G (p.Met74Arg)
c.4307T>G (p.Met1436Arg)
c.3671T>G (p.Met1224Arg)
c.461T>G (p.Met154Arg)
5g.177251816G>ACA362352189NSD1c.3855G>A (p.Met1285Ile)
n.4311G>A
c.4419G>A (p.Met1473Ile)
n.4125G>A
n.4875G>A
c.4728G>A (p.Met1576Ile)
c.3921G>A (p.Met1307Ile)
c.222G>A (p.Met74Ile)
c.4308G>A (p.Met1436Ile)
c.3672G>A (p.Met1224Ile)
c.462G>A (p.Met154Ile)
 gnomAD v4
5g.177251816G>CCA362352180NSD1c.3855G>C (p.Met1285Ile)
n.4311G>C
c.4419G>C (p.Met1473Ile)
n.4125G>C
n.4875G>C
c.4728G>C (p.Met1576Ile)
c.3921G>C (p.Met1307Ile)
c.222G>C (p.Met74Ile)
c.4308G>C (p.Met1436Ile)
c.3672G>C (p.Met1224Ile)
c.462G>C (p.Met154Ile)
5g.177251816G>TCA362352182NSD1c.3855G>T (p.Met1285Ile)
n.4311G>T
c.4419G>T (p.Met1473Ile)
n.4125G>T
n.4875G>T
c.4728G>T (p.Met1576Ile)
c.3921G>T (p.Met1307Ile)
c.222G>T (p.Met74Ile)
c.4308G>T (p.Met1436Ile)
c.3672G>T (p.Met1224Ile)
c.462G>T (p.Met154Ile)
5g.177251817C>ACA362352193NSD1c.3856C>A (p.Pro1286Thr)
n.4312C>A
c.4420C>A (p.Pro1474Thr)
n.4126C>A
n.4876C>A
c.4729C>A (p.Pro1577Thr)
c.3922C>A (p.Pro1308Thr)
c.223C>A (p.Pro75Thr)
c.4309C>A (p.Pro1437Thr)
c.3673C>A (p.Pro1225Thr)
c.463C>A (p.Pro155Thr)
5g.177251817C>GCA362352196NSD1c.3856C>G (p.Pro1286Ala)
n.4312C>G
c.4420C>G (p.Pro1474Ala)
n.4126C>G
n.4876C>G
c.4729C>G (p.Pro1577Ala)
c.3922C>G (p.Pro1308Ala)
c.223C>G (p.Pro75Ala)
c.4309C>G (p.Pro1437Ala)
c.3673C>G (p.Pro1225Ala)
c.463C>G (p.Pro155Ala)
5g.177251817C>TCA362352197NSD1c.3856C>T (p.Pro1286Ser)
n.4312C>T
c.4420C>T (p.Pro1474Ser)
n.4126C>T
n.4876C>T
c.4729C>T (p.Pro1577Ser)
c.3922C>T (p.Pro1308Ser)
c.223C>T (p.Pro75Ser)
c.4309C>T (p.Pro1437Ser)
c.3673C>T (p.Pro1225Ser)
c.463C>T (p.Pro155Ser)
 dbSNP
5g.177251818C>ACA362352198NSD1c.3857C>A (p.Pro1286Gln)
n.4313C>A
c.4421C>A (p.Pro1474Gln)
n.4127C>A
n.4877C>A
c.4730C>A (p.Pro1577Gln)
c.3923C>A (p.Pro1308Gln)
c.224C>A (p.Pro75Gln)
c.4310C>A (p.Pro1437Gln)
c.3674C>A (p.Pro1225Gln)
c.464C>A (p.Pro155Gln)
5g.177251818C=CA1603529757NSD1c.3857C= (p.Pro1286=)
n.4313C=
c.4421C= (p.Pro1474=)
n.4127C=
n.4877C=
c.4730C= (p.Pro1577=)
c.3923C= (p.Pro1308=)
c.224C= (p.Pro75=)
c.4310C= (p.Pro1437=)
c.3674C= (p.Pro1225=)
c.464C= (p.Pro155=)
5g.177251818C>GCA362352200NSD1c.3857C>G (p.Pro1286Arg)
n.4313C>G
c.4421C>G (p.Pro1474Arg)
n.4127C>G
n.4877C>G
c.4730C>G (p.Pro1577Arg)
c.3923C>G (p.Pro1308Arg)
c.224C>G (p.Pro75Arg)
c.4310C>G (p.Pro1437Arg)
c.3674C>G (p.Pro1225Arg)
c.464C>G (p.Pro155Arg)
5g.177251818C>TCA362352207NSD1c.3857C>T (p.Pro1286Leu)
n.4313C>T
c.4421C>T (p.Pro1474Leu)
n.4127C>T
n.4877C>T
c.4730C>T (p.Pro1577Leu)
c.3923C>T (p.Pro1308Leu)
c.224C>T (p.Pro75Leu)
c.4310C>T (p.Pro1437Leu)
c.3674C>T (p.Pro1225Leu)
c.464C>T (p.Pro155Leu)
5g.177251818_177251820delinsCAACA1603529758NSD1c.3857_3859delinsCAA (p.Pro1286=)
n.4313_4315delinsCAA
c.4421_4423delinsCAA (p.Pro1474=)
n.4127_4129delinsCAA
n.4877_4879delinsCAA
c.4730_4732delinsCAA (p.Pro1577=)
c.3923_3925delinsCAA (p.Pro1308=)
c.224_226delinsCAA (p.Pro75=)
c.4310_4312delinsCAA (p.Pro1437=)
c.3674_3676delinsCAA (p.Pro1225=)
c.464_466delinsCAA (p.Pro155=)
5g.177251819A>CCA447725921NSD1c.3858A>C (p.Pro1286=)
n.4314A>C
c.4422A>C (p.Pro1474=)
n.4128A>C
n.4878A>C
c.4731A>C (p.Pro1577=)
c.3924A>C (p.Pro1308=)
c.225A>C (p.Pro75=)
c.4311A>C (p.Pro1437=)
c.3675A>C (p.Pro1225=)
c.465A>C (p.Pro155=)
5g.177251819A>GCA447725922NSD1c.3858A>G (p.Pro1286=)
n.4314A>G
c.4422A>G (p.Pro1474=)
n.4128A>G
n.4878A>G
c.4731A>G (p.Pro1577=)
c.3924A>G (p.Pro1308=)
c.225A>G (p.Pro75=)
c.4311A>G (p.Pro1437=)
c.3675A>G (p.Pro1225=)
c.465A>G (p.Pro155=)
 gnomAD v4
5g.177251819A>TCA447725923NSD1c.3858A>T (p.Pro1286=)
n.4314A>T
c.4422A>T (p.Pro1474=)
n.4128A>T
n.4878A>T
c.4731A>T (p.Pro1577=)
c.3924A>T (p.Pro1308=)
c.225A>T (p.Pro75=)
c.4311A>T (p.Pro1437=)
c.3675A>T (p.Pro1225=)
c.465A>T (p.Pro155=)
5g.177251819_177251820delCA294901NSD1c.3858_3859del (p.Gly1288LysfsTer6)
n.4314_4315del
c.4422_4423del (p.Gly1476LysfsTer6)
n.4128_4129del
n.4878_4879del
c.4731_4732del (p.Gly1579LysfsTer6)
c.3924_3925del (p.Gly1310LysfsTer6)
c.225_226del (p.Gly77LysfsTer6)
c.4311_4312del (p.Gly1439LysfsTer6)
c.3675_3676del (p.Gly1227LysfsTer6)
c.465_466del (p.Gly157LysfsTer6)
 ClinVar dbSNP
5g.177251820dupCA319735NSD1c.3859dup (p.Arg1287LysfsTer8)
n.4315dup
c.4423dup (p.Arg1475LysfsTer8)
n.4129dup
n.4879dup
c.4732dup (p.Arg1578LysfsTer8)
c.3925dup (p.Arg1309LysfsTer8)
c.226dup (p.Arg76LysfsTer8)
c.4312dup (p.Arg1438LysfsTer8)
c.3676dup (p.Arg1226LysfsTer8)
c.466dup (p.Arg156LysfsTer8)
 ClinVar dbSNP
5g.177251820A>CCA447725924NSD1c.3859A>C (p.Arg1287=)
n.4315A>C
c.4423A>C (p.Arg1475=)
n.4129A>C
n.4879A>C
c.4732A>C (p.Arg1578=)
c.3925A>C (p.Arg1309=)
c.226A>C (p.Arg76=)
c.4312A>C (p.Arg1438=)
c.3676A>C (p.Arg1226=)
c.466A>C (p.Arg156=)
5g.177251820A>GCA362352211NSD1c.3859A>G (p.Arg1287Gly)
n.4315A>G
c.4423A>G (p.Arg1475Gly)
n.4129A>G
n.4879A>G
c.4732A>G (p.Arg1578Gly)
c.3925A>G (p.Arg1309Gly)
c.226A>G (p.Arg76Gly)
c.4312A>G (p.Arg1438Gly)
c.3676A>G (p.Arg1226Gly)
c.466A>G (p.Arg156Gly)
 ClinVar dbSNP
5g.177251820A>TCA362352214NSD1c.3859A>T (p.Arg1287Ter)
n.4315A>T
c.4423A>T (p.Arg1475Ter)
n.4129A>T
n.4879A>T
c.4732A>T (p.Arg1578Ter)
c.3925A>T (p.Arg1309Ter)
c.226A>T (p.Arg76Ter)
c.4312A>T (p.Arg1438Ter)
c.3676A>T (p.Arg1226Ter)
c.466A>T (p.Arg156Ter)
5g.177251821G>ACA362352217NSD1c.3860G>A (p.Arg1287Lys)
n.4316G>A
c.4424G>A (p.Arg1475Lys)
n.4130G>A
n.4880G>A
c.4733G>A (p.Arg1578Lys)
c.3926G>A (p.Arg1309Lys)
c.227G>A (p.Arg76Lys)
c.4313G>A (p.Arg1438Lys)
c.3677G>A (p.Arg1226Lys)
c.467G>A (p.Arg156Lys)
5g.177251821G>CCA362352220NSD1c.3860G>C (p.Arg1287Thr)
n.4316G>C
c.4424G>C (p.Arg1475Thr)
n.4130G>C
n.4880G>C
c.4733G>C (p.Arg1578Thr)
c.3926G>C (p.Arg1309Thr)
c.227G>C (p.Arg76Thr)
c.4313G>C (p.Arg1438Thr)
c.3677G>C (p.Arg1226Thr)
c.467G>C (p.Arg156Thr)
 gnomAD v4
5g.177251821G>TCA362352224NSD1c.3860G>T (p.Arg1287Ile)
n.4316G>T
c.4424G>T (p.Arg1475Ile)
n.4130G>T
n.4880G>T
c.4733G>T (p.Arg1578Ile)
c.3926G>T (p.Arg1309Ile)
c.227G>T (p.Arg76Ile)
c.4313G>T (p.Arg1438Ile)
c.3677G>T (p.Arg1226Ile)
c.467G>T (p.Arg156Ile)
5g.177251822A>CCA362352245NSD1c.3861A>C (p.Arg1287Ser)
n.4317A>C
c.4425A>C (p.Arg1475Ser)
n.4131A>C
n.4881A>C
c.4734A>C (p.Arg1578Ser)
c.3927A>C (p.Arg1309Ser)
c.228A>C (p.Arg76Ser)
c.4314A>C (p.Arg1438Ser)
c.3678A>C (p.Arg1226Ser)
c.468A>C (p.Arg156Ser)
5g.177251822A>GCA447725925NSD1c.3861A>G (p.Arg1287=)
n.4317A>G
c.4425A>G (p.Arg1475=)
n.4131A>G
n.4881A>G
c.4734A>G (p.Arg1578=)
c.3927A>G (p.Arg1309=)
c.228A>G (p.Arg76=)
c.4314A>G (p.Arg1438=)
c.3678A>G (p.Arg1226=)
c.468A>G (p.Arg156=)
5g.177251822A>TCA362352229NSD1c.3861A>T (p.Arg1287Ser)
n.4317A>T
c.4425A>T (p.Arg1475Ser)
n.4131A>T
n.4881A>T
c.4734A>T (p.Arg1578Ser)
c.3927A>T (p.Arg1309Ser)
c.228A>T (p.Arg76Ser)
c.4314A>T (p.Arg1438Ser)
c.3678A>T (p.Arg1226Ser)
c.468A>T (p.Arg156Ser)
5g.177251823G>ACA362352248NSD1c.3862G>A (p.Gly1288Arg)
n.4318G>A
c.4426G>A (p.Gly1476Arg)
n.4132G>A
n.4882G>A
c.4735G>A (p.Gly1579Arg)
c.3928G>A (p.Gly1310Arg)
c.229G>A (p.Gly77Arg)
c.4315G>A (p.Gly1439Arg)
c.3679G>A (p.Gly1227Arg)
c.469G>A (p.Gly157Arg)
5g.177251823G>CCA362352265NSD1c.3862G>C (p.Gly1288Arg)
n.4318G>C
c.4426G>C (p.Gly1476Arg)
n.4132G>C
n.4882G>C
c.4735G>C (p.Gly1579Arg)
c.3928G>C (p.Gly1310Arg)
c.229G>C (p.Gly77Arg)
c.4315G>C (p.Gly1439Arg)
c.3679G>C (p.Gly1227Arg)
c.469G>C (p.Gly157Arg)
5g.177251823G>TCA362352260NSD1c.3862G>T (p.Gly1288Ter)
n.4318G>T
c.4426G>T (p.Gly1476Ter)
n.4132G>T
n.4882G>T
c.4735G>T (p.Gly1579Ter)
c.3928G>T (p.Gly1310Ter)
c.229G>T (p.Gly77Ter)
c.4315G>T (p.Gly1439Ter)
c.3679G>T (p.Gly1227Ter)
c.469G>T (p.Gly157Ter)
5g.177251824dupCA2695205793NSD1c.3863dup (p.Phe1290IlefsTer5)
n.4319dup
c.4427dup (p.Phe1478IlefsTer5)
n.4133dup
n.4883dup
c.4736dup (p.Phe1581IlefsTer5)
c.3929dup (p.Phe1312IlefsTer5)
c.230dup (p.Phe79IlefsTer5)
c.4316dup (p.Phe1441IlefsTer5)
c.3680dup (p.Phe1229IlefsTer5)
c.470dup (p.Phe159IlefsTer5)
5g.177251824G>ACA362352267NSD1c.3863G>A (p.Gly1288Glu)
n.4319G>A
c.4427G>A (p.Gly1476Glu)
n.4133G>A
n.4883G>A
c.4736G>A (p.Gly1579Glu)
c.3929G>A (p.Gly1310Glu)
c.230G>A (p.Gly77Glu)
c.4316G>A (p.Gly1439Glu)
c.3680G>A (p.Gly1227Glu)
c.470G>A (p.Gly157Glu)
5g.177251824G>CCA362352270NSD1c.3863G>C (p.Gly1288Ala)
n.4319G>C
c.4427G>C (p.Gly1476Ala)
n.4133G>C
n.4883G>C
c.4736G>C (p.Gly1579Ala)
c.3929G>C (p.Gly1310Ala)
c.230G>C (p.Gly77Ala)
c.4316G>C (p.Gly1439Ala)
c.3680G>C (p.Gly1227Ala)
c.470G>C (p.Gly157Ala)
5g.177251824G>TCA362352275NSD1c.3863G>T (p.Gly1288Val)
n.4319G>T
c.4427G>T (p.Gly1476Val)
n.4133G>T
n.4883G>T
c.4736G>T (p.Gly1579Val)
c.3929G>T (p.Gly1310Val)
c.230G>T (p.Gly77Val)
c.4316G>T (p.Gly1439Val)
c.3680G>T (p.Gly1227Val)
c.470G>T (p.Gly157Val)
5g.177251825A>CCA447725928NSD1c.3864A>C (p.Gly1288=)
n.4320A>C
c.4428A>C (p.Gly1476=)
n.4134A>C
n.4884A>C
c.4737A>C (p.Gly1579=)
c.3930A>C (p.Gly1310=)
c.231A>C (p.Gly77=)
c.4317A>C (p.Gly1439=)
c.3681A>C (p.Gly1227=)
c.471A>C (p.Gly157=)
5g.177251825A>GCA447725927NSD1c.3864A>G (p.Gly1288=)
n.4320A>G
c.4428A>G (p.Gly1476=)
n.4134A>G
n.4884A>G
c.4737A>G (p.Gly1579=)
c.3930A>G (p.Gly1310=)
c.231A>G (p.Gly77=)
c.4317A>G (p.Gly1439=)
c.3681A>G (p.Gly1227=)
c.471A>G (p.Gly157=)
 gnomAD v4
5g.177251825A>TCA447725926NSD1c.3864A>T (p.Gly1288=)
n.4320A>T
c.4428A>T (p.Gly1476=)
n.4134A>T
n.4884A>T
c.4737A>T (p.Gly1579=)
c.3930A>T (p.Gly1310=)
c.231A>T (p.Gly77=)
c.4317A>T (p.Gly1439=)
c.3681A>T (p.Gly1227=)
c.471A>T (p.Gly157=)
5g.177251828delCA2695205794NSD1c.3867del (p.Lys1289AsnfsTer?)
n.4323del
c.4431del (p.Lys1477AsnfsTer?)
n.4137del
n.4887del
c.4740del (p.Lys1580AsnfsTer?)
c.3933del (p.Lys1311AsnfsTer?)
c.234del (p.Lys78AsnfsTer?)
c.4320del (p.Lys1440AsnfsTer?)
c.3684del (p.Lys1228AsnfsTer?)
c.474del (p.Lys158AsnfsTer?)
5g.177251826A>CCA362352279NSD1c.3865A>C (p.Lys1289Gln)
n.4321A>C
c.4429A>C (p.Lys1477Gln)
n.4135A>C
n.4885A>C
c.4738A>C (p.Lys1580Gln)
c.3931A>C (p.Lys1311Gln)
c.232A>C (p.Lys78Gln)
c.4318A>C (p.Lys1440Gln)
c.3682A>C (p.Lys1228Gln)
c.472A>C (p.Lys158Gln)
 gnomAD v4
5g.177251826A>GCA362352281NSD1c.3865A>G (p.Lys1289Glu)
n.4321A>G
c.4429A>G (p.Lys1477Glu)
n.4135A>G
n.4885A>G
c.4738A>G (p.Lys1580Glu)
c.3931A>G (p.Lys1311Glu)
c.232A>G (p.Lys78Glu)
c.4318A>G (p.Lys1440Glu)
c.3682A>G (p.Lys1228Glu)
c.472A>G (p.Lys158Glu)
5g.177251826A>TCA362352283NSD1c.3865A>T (p.Lys1289Ter)
n.4321A>T
c.4429A>T (p.Lys1477Ter)
n.4135A>T
n.4885A>T
c.4738A>T (p.Lys1580Ter)
c.3931A>T (p.Lys1311Ter)
c.232A>T (p.Lys78Ter)
c.4318A>T (p.Lys1440Ter)
c.3682A>T (p.Lys1228Ter)
c.472A>T (p.Lys158Ter)
5g.177251827A>CCA362352285NSD1c.3866A>C (p.Lys1289Thr)
n.4322A>C
c.4430A>C (p.Lys1477Thr)
n.4136A>C
n.4886A>C
c.4739A>C (p.Lys1580Thr)
c.3932A>C (p.Lys1311Thr)
c.233A>C (p.Lys78Thr)
c.4319A>C (p.Lys1440Thr)
c.3683A>C (p.Lys1228Thr)
c.473A>C (p.Lys158Thr)
5g.177251827A>GCA362352287NSD1c.3866A>G (p.Lys1289Arg)
n.4322A>G
c.4430A>G (p.Lys1477Arg)
n.4136A>G
n.4886A>G
c.4739A>G (p.Lys1580Arg)
c.3932A>G (p.Lys1311Arg)
c.233A>G (p.Lys78Arg)
c.4319A>G (p.Lys1440Arg)
c.3683A>G (p.Lys1228Arg)
c.473A>G (p.Lys158Arg)
 gnomAD v4
5g.177251827A>TCA362352291NSD1c.3866A>T (p.Lys1289Ile)
n.4322A>T
c.4430A>T (p.Lys1477Ile)
n.4136A>T
n.4886A>T
c.4739A>T (p.Lys1580Ile)
c.3932A>T (p.Lys1311Ile)
c.233A>T (p.Lys78Ile)
c.4319A>T (p.Lys1440Ile)
c.3683A>T (p.Lys1228Ile)
c.473A>T (p.Lys158Ile)
 gnomAD v4

Number of alleles fetched