Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177293815delCA2676692104NSD1c.5591-17del (n.5591-17del)
c.1106-17del (n.1106-17del)
n.6047-17del
n.880-17del
c.6155-17del (n.6155-17del)
n.5861-17del
c.6464-17del (n.6464-17del)
c.5657-17del (n.5657-17del)
c.1958-17del (n.1958-17del)
c.6044-17del (n.6044-17del)
c.5408-17del (n.5408-17del)
c.2198-17del (n.2198-17del)
 gnomAD v4
5g.177293817C=CA1603535221NSD1c.5591-15C= (n.5591-15C=)
c.1106-15C= (n.1106-15C=)
n.6047-15C=
n.880-15C=
c.6155-15C= (n.6155-15C=)
n.5861-15C=
c.6464-15C= (n.6464-15C=)
c.5657-15C= (n.5657-15C=)
c.1958-15C= (n.1958-15C=)
c.6044-15C= (n.6044-15C=)
c.5408-15C= (n.5408-15C=)
c.2198-15C= (n.2198-15C=)
5g.177293817C>TCA1084807679NSD1c.5591-15C>T (n.5591-15C>T)
c.1106-15C>T (n.1106-15C>T)
n.6047-15C>T
n.880-15C>T
c.6155-15C>T (n.6155-15C>T)
n.5861-15C>T
c.6464-15C>T (n.6464-15C>T)
c.5657-15C>T (n.5657-15C>T)
c.1958-15C>T (n.1958-15C>T)
c.6044-15C>T (n.6044-15C>T)
c.5408-15C>T (n.5408-15C>T)
c.2198-15C>T (n.2198-15C>T)
 dbSNP gnomAD v3 gnomAD v4
5g.177293819dupCA132862356NSD1c.5591-13dup (n.5591-13dup)
c.1106-13dup (n.1106-13dup)
n.6047-13dup
n.880-13dup
c.6155-13dup (n.6155-13dup)
n.5861-13dup
c.6464-13dup (n.6464-13dup)
c.5657-13dup (n.5657-13dup)
c.1958-13dup (n.1958-13dup)
c.6044-13dup (n.6044-13dup)
c.5408-13dup (n.5408-13dup)
c.2198-13dup (n.2198-13dup)
 dbSNP
5g.177293819T>CCA1603535226NSD1c.5591-13T>C (n.5591-13T>C)
c.1106-13T>C (n.1106-13T>C)
n.6047-13T>C
n.880-13T>C
c.6155-13T>C (n.6155-13T>C)
n.5861-13T>C
c.6464-13T>C (n.6464-13T>C)
c.5657-13T>C (n.5657-13T>C)
c.1958-13T>C (n.1958-13T>C)
c.6044-13T>C (n.6044-13T>C)
c.5408-13T>C (n.5408-13T>C)
c.2198-13T>C (n.2198-13T>C)
 ClinVar dbSNP gnomAD v4
5g.177293819T=CA1603535225NSD1c.5591-13T= (n.5591-13T=)
c.1106-13T= (n.1106-13T=)
n.6047-13T=
n.880-13T=
c.6155-13T= (n.6155-13T=)
n.5861-13T=
c.6464-13T= (n.6464-13T=)
c.5657-13T= (n.5657-13T=)
c.1958-13T= (n.1958-13T=)
c.6044-13T= (n.6044-13T=)
c.5408-13T= (n.5408-13T=)
c.2198-13T= (n.2198-13T=)
5g.177293820C>ACA3578014NSD1c.5591-12C>A (n.5591-12C>A)
c.1106-12C>A (n.1106-12C>A)
n.6047-12C>A
n.880-12C>A
c.6155-12C>A (n.6155-12C>A)
n.5861-12C>A
c.6464-12C>A (n.6464-12C>A)
c.5657-12C>A (n.5657-12C>A)
c.1958-12C>A (n.1958-12C>A)
c.6044-12C>A (n.6044-12C>A)
c.5408-12C>A (n.5408-12C>A)
c.2198-12C>A (n.2198-12C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177293820C=CA1603535234NSD1c.5591-12C= (n.5591-12C=)
c.1106-12C= (n.1106-12C=)
n.6047-12C=
n.880-12C=
c.6155-12C= (n.6155-12C=)
n.5861-12C=
c.6464-12C= (n.6464-12C=)
c.5657-12C= (n.5657-12C=)
c.1958-12C= (n.1958-12C=)
c.6044-12C= (n.6044-12C=)
c.5408-12C= (n.5408-12C=)
c.2198-12C= (n.2198-12C=)
5g.177293820C>TCA3578012NSD1c.5591-12C>T (n.5591-12C>T)
c.1106-12C>T (n.1106-12C>T)
n.6047-12C>T
n.880-12C>T
c.6155-12C>T (n.6155-12C>T)
n.5861-12C>T
c.6464-12C>T (n.6464-12C>T)
c.5657-12C>T (n.5657-12C>T)
c.1958-12C>T (n.1958-12C>T)
c.6044-12C>T (n.6044-12C>T)
c.5408-12C>T (n.5408-12C>T)
c.2198-12C>T (n.2198-12C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177293820_177293822delinsCTGCA1603535239NSD1c.5591-12_5591-10delinsCTG (n.5591-12_5591-10delinsCTG)
c.1106-12_1106-10delinsCTG (n.1106-12_1106-10delinsCTG)
n.6047-12_6047-10delinsCTG
n.880-12_880-10delinsCTG
c.6155-12_6155-10delinsCTG (n.6155-12_6155-10delinsCTG)
n.5861-12_5861-10delinsCTG
c.6464-12_6464-10delinsCTG (n.6464-12_6464-10delinsCTG)
c.5657-12_5657-10delinsCTG (n.5657-12_5657-10delinsCTG)
c.1958-12_1958-10delinsCTG (n.1958-12_1958-10delinsCTG)
c.6044-12_6044-10delinsCTG (n.6044-12_6044-10delinsCTG)
c.5408-12_5408-10delinsCTG (n.5408-12_5408-10delinsCTG)
c.2198-12_2198-10delinsCTG (n.2198-12_2198-10delinsCTG)
5g.177293821T>CCA1603535248NSD1c.5591-11T>C (n.5591-11T>C)
c.1106-11T>C (n.1106-11T>C)
n.6047-11T>C
n.880-11T>C
c.6155-11T>C (n.6155-11T>C)
n.5861-11T>C
c.6464-11T>C (n.6464-11T>C)
c.5657-11T>C (n.5657-11T>C)
c.1958-11T>C (n.1958-11T>C)
c.6044-11T>C (n.6044-11T>C)
c.5408-11T>C (n.5408-11T>C)
c.2198-11T>C (n.2198-11T>C)
 dbSNP gnomAD v4
5g.177293821T>GCA132862367NSD1c.5591-11T>G (n.5591-11T>G)
c.1106-11T>G (n.1106-11T>G)
n.6047-11T>G
n.880-11T>G
c.6155-11T>G (n.6155-11T>G)
n.5861-11T>G
c.6464-11T>G (n.6464-11T>G)
c.5657-11T>G (n.5657-11T>G)
c.1958-11T>G (n.1958-11T>G)
c.6044-11T>G (n.6044-11T>G)
c.5408-11T>G (n.5408-11T>G)
c.2198-11T>G (n.2198-11T>G)
 dbSNP gnomAD v4 COSMIC
5g.177293821T=CA1603535244NSD1c.5591-11T= (n.5591-11T=)
c.1106-11T= (n.1106-11T=)
n.6047-11T=
n.880-11T=
c.6155-11T= (n.6155-11T=)
n.5861-11T=
c.6464-11T= (n.6464-11T=)
c.5657-11T= (n.5657-11T=)
c.1958-11T= (n.1958-11T=)
c.6044-11T= (n.6044-11T=)
c.5408-11T= (n.5408-11T=)
c.2198-11T= (n.2198-11T=)
5g.177293824_177293825delCA3578013NSD1c.5591-8_5591-7del (n.5591-8_5591-7del)
c.1106-8_1106-7del (n.1106-8_1106-7del)
n.6047-8_6047-7del
n.880-8_880-7del
c.6155-8_6155-7del (n.6155-8_6155-7del)
n.5861-8_5861-7del
c.6464-8_6464-7del (n.6464-8_6464-7del)
c.5657-8_5657-7del (n.5657-8_5657-7del)
c.1958-8_1958-7del (n.1958-8_1958-7del)
c.6044-8_6044-7del (n.6044-8_6044-7del)
c.5408-8_5408-7del (n.5408-8_5408-7del)
c.2198-8_2198-7del (n.2198-8_2198-7del)
 dbSNP ExAC gnomAD v2 gnomAD v3
5g.177293822G>ACA3578015NSD1c.5591-10G>A (n.5591-10G>A)
c.1106-10G>A (n.1106-10G>A)
n.6047-10G>A
n.880-10G>A
c.6155-10G>A (n.6155-10G>A)
n.5861-10G>A
c.6464-10G>A (n.6464-10G>A)
c.5657-10G>A (n.5657-10G>A)
c.1958-10G>A (n.1958-10G>A)
c.6044-10G>A (n.6044-10G>A)
c.5408-10G>A (n.5408-10G>A)
c.2198-10G>A (n.2198-10G>A)
 dbSNP ExAC gnomAD v2
5g.177293822G=CA1603535249NSD1c.5591-10G= (n.5591-10G=)
c.1106-10G= (n.1106-10G=)
n.6047-10G=
n.880-10G=
c.6155-10G= (n.6155-10G=)
n.5861-10G=
c.6464-10G= (n.6464-10G=)
c.5657-10G= (n.5657-10G=)
c.1958-10G= (n.1958-10G=)
c.6044-10G= (n.6044-10G=)
c.5408-10G= (n.5408-10G=)
c.2198-10G= (n.2198-10G=)
5g.177293822G>TCA3578016NSD1c.5591-10G>T (n.5591-10G>T)
c.1106-10G>T (n.1106-10G>T)
n.6047-10G>T
n.880-10G>T
c.6155-10G>T (n.6155-10G>T)
n.5861-10G>T
c.6464-10G>T (n.6464-10G>T)
c.5657-10G>T (n.5657-10G>T)
c.1958-10G>T (n.1958-10G>T)
c.6044-10G>T (n.6044-10G>T)
c.5408-10G>T (n.5408-10G>T)
c.2198-10G>T (n.2198-10G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177293824G=CA1603535254NSD1c.5591-8G= (n.5591-8G=)
c.1106-8G= (n.1106-8G=)
n.6047-8G=
n.880-8G=
c.6155-8G= (n.6155-8G=)
n.5861-8G=
c.6464-8G= (n.6464-8G=)
c.5657-8G= (n.5657-8G=)
c.1958-8G= (n.1958-8G=)
c.6044-8G= (n.6044-8G=)
c.5408-8G= (n.5408-8G=)
c.2198-8G= (n.2198-8G=)
5g.177293824G>TCA3578017NSD1c.5591-8G>T (n.5591-8G>T)
c.1106-8G>T (n.1106-8G>T)
n.6047-8G>T
n.880-8G>T
c.6155-8G>T (n.6155-8G>T)
n.5861-8G>T
c.6464-8G>T (n.6464-8G>T)
c.5657-8G>T (n.5657-8G>T)
c.1958-8G>T (n.1958-8G>T)
c.6044-8G>T (n.6044-8G>T)
c.5408-8G>T (n.5408-8G>T)
c.2198-8G>T (n.2198-8G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177293824_177293825delinsGTCA1603535266NSD1c.5591-8_5591-7delinsGT (n.5591-8_5591-7delinsGT)
c.1106-8_1106-7delinsGT (n.1106-8_1106-7delinsGT)
n.6047-8_6047-7delinsGT
n.880-8_880-7delinsGT
c.6155-8_6155-7delinsGT (n.6155-8_6155-7delinsGT)
n.5861-8_5861-7delinsGT
c.6464-8_6464-7delinsGT (n.6464-8_6464-7delinsGT)
c.5657-8_5657-7delinsGT (n.5657-8_5657-7delinsGT)
c.1958-8_1958-7delinsGT (n.1958-8_1958-7delinsGT)
c.6044-8_6044-7delinsGT (n.6044-8_6044-7delinsGT)
c.5408-8_5408-7delinsGT (n.5408-8_5408-7delinsGT)
c.2198-8_2198-7delinsGT (n.2198-8_2198-7delinsGT)
5g.177293824_177293827delinsGTTTCA1603535263NSD1c.5591-8_5591-5delinsGTTT (n.5591-8_5591-5delinsGTTT)
c.1106-8_1106-5delinsGTTT (n.1106-8_1106-5delinsGTTT)
n.6047-8_6047-5delinsGTTT
n.880-8_880-5delinsGTTT
c.6155-8_6155-5delinsGTTT (n.6155-8_6155-5delinsGTTT)
n.5861-8_5861-5delinsGTTT
c.6464-8_6464-5delinsGTTT (n.6464-8_6464-5delinsGTTT)
c.5657-8_5657-5delinsGTTT (n.5657-8_5657-5delinsGTTT)
c.1958-8_1958-5delinsGTTT (n.1958-8_1958-5delinsGTTT)
c.6044-8_6044-5delinsGTTT (n.6044-8_6044-5delinsGTTT)
c.5408-8_5408-5delinsGTTT (n.5408-8_5408-5delinsGTTT)
c.2198-8_2198-5delinsGTTT (n.2198-8_2198-5delinsGTTT)
5g.177293824_177293827delinsTTTCCA658796687NSD1c.5591-8_5591-5delinsTTTC (n.5591-8_5591-5delinsTTTC)
c.1106-8_1106-5delinsTTTC (n.1106-8_1106-5delinsTTTC)
n.6047-8_6047-5delinsTTTC
n.880-8_880-5delinsTTTC
c.6155-8_6155-5delinsTTTC (n.6155-8_6155-5delinsTTTC)
n.5861-8_5861-5delinsTTTC
c.6464-8_6464-5delinsTTTC (n.6464-8_6464-5delinsTTTC)
c.5657-8_5657-5delinsTTTC (n.5657-8_5657-5delinsTTTC)
c.1958-8_1958-5delinsTTTC (n.1958-8_1958-5delinsTTTC)
c.6044-8_6044-5delinsTTTC (n.6044-8_6044-5delinsTTTC)
c.5408-8_5408-5delinsTTTC (n.5408-8_5408-5delinsTTTC)
c.2198-8_2198-5delinsTTTC (n.2198-8_2198-5delinsTTTC)
 ClinVar dbSNP
5g.177293828delCA564898960NSD1c.5591-4del (n.5591-4del)
c.1106-4del (n.1106-4del)
n.6047-4del
n.880-4del
c.6155-4del (n.6155-4del)
n.5861-4del
c.6464-4del (n.6464-4del)
c.5657-4del (n.5657-4del)
c.1958-4del (n.1958-4del)
c.6044-4del (n.6044-4del)
c.5408-4del (n.5408-4del)
c.2198-4del (n.2198-4del)
 dbSNP gnomAD v2
5g.177293827T>CCA3578018NSD1c.5591-5T>C (n.5591-5T>C)
c.1106-5T>C (n.1106-5T>C)
n.6047-5T>C
n.880-5T>C
c.6155-5T>C (n.6155-5T>C)
n.5861-5T>C
c.6464-5T>C (n.6464-5T>C)
c.5657-5T>C (n.5657-5T>C)
c.1958-5T>C (n.1958-5T>C)
c.6044-5T>C (n.6044-5T>C)
c.5408-5T>C (n.5408-5T>C)
c.2198-5T>C (n.2198-5T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177293827T=CA1603535272NSD1c.5591-5T= (n.5591-5T=)
c.1106-5T= (n.1106-5T=)
n.6047-5T=
n.880-5T=
c.6155-5T= (n.6155-5T=)
n.5861-5T=
c.6464-5T= (n.6464-5T=)
c.5657-5T= (n.5657-5T=)
c.1958-5T= (n.1958-5T=)
c.6044-5T= (n.6044-5T=)
c.5408-5T= (n.5408-5T=)
c.2198-5T= (n.2198-5T=)
5g.177293828T>CCA2676692105NSD1c.5591-4T>C (n.5591-4T>C)
c.1106-4T>C (n.1106-4T>C)
n.6047-4T>C
n.880-4T>C
c.6155-4T>C (n.6155-4T>C)
n.5861-4T>C
c.6464-4T>C (n.6464-4T>C)
c.5657-4T>C (n.5657-4T>C)
c.1958-4T>C (n.1958-4T>C)
c.6044-4T>C (n.6044-4T>C)
c.5408-4T>C (n.5408-4T>C)
c.2198-4T>C (n.2198-4T>C)
 gnomAD v4
5g.177293830A>CCA362323121NSD1c.5591-2A>C (n.5591-2A>C)
c.1106-2A>C (n.1106-2A>C)
n.6047-2A>C
n.880-2A>C
c.6155-2A>C (n.6155-2A>C)
n.5861-2A>C
c.6464-2A>C (n.6464-2A>C)
c.5657-2A>C (n.5657-2A>C)
c.1958-2A>C (n.1958-2A>C)
c.6044-2A>C (n.6044-2A>C)
c.5408-2A>C (n.5408-2A>C)
c.2198-2A>C (n.2198-2A>C)
5g.177293830A>GCA362323124NSD1c.5591-2A>G (n.5591-2A>G)
c.1106-2A>G (n.1106-2A>G)
n.6047-2A>G
n.880-2A>G
c.6155-2A>G (n.6155-2A>G)
n.5861-2A>G
c.6464-2A>G (n.6464-2A>G)
c.5657-2A>G (n.5657-2A>G)
c.1958-2A>G (n.1958-2A>G)
c.6044-2A>G (n.6044-2A>G)
c.5408-2A>G (n.5408-2A>G)
c.2198-2A>G (n.2198-2A>G)
 COSMIC COSMIC
5g.177293830A>TCA362323126NSD1c.5591-2A>T (n.5591-2A>T)
c.1106-2A>T (n.1106-2A>T)
n.6047-2A>T
n.880-2A>T
c.6155-2A>T (n.6155-2A>T)
n.5861-2A>T
c.6464-2A>T (n.6464-2A>T)
c.5657-2A>T (n.5657-2A>T)
c.1958-2A>T (n.1958-2A>T)
c.6044-2A>T (n.6044-2A>T)
c.5408-2A>T (n.5408-2A>T)
c.2198-2A>T (n.2198-2A>T)
5g.177293831G>ACA362323138NSD1c.5591-1G>A (n.5591-1G>A)
c.1106-1G>A (n.1106-1G>A)
n.6047-1G>A
n.880-1G>A
c.6155-1G>A (n.6155-1G>A)
n.5861-1G>A
c.6464-1G>A (n.6464-1G>A)
c.5657-1G>A (n.5657-1G>A)
c.1958-1G>A (n.1958-1G>A)
c.6044-1G>A (n.6044-1G>A)
c.5408-1G>A (n.5408-1G>A)
c.2198-1G>A (n.2198-1G>A)
 ClinVar dbSNP
5g.177293831G>CCA362323141NSD1c.5591-1G>C (n.5591-1G>C)
c.1106-1G>C (n.1106-1G>C)
n.6047-1G>C
n.880-1G>C
c.6155-1G>C (n.6155-1G>C)
n.5861-1G>C
c.6464-1G>C (n.6464-1G>C)
c.5657-1G>C (n.5657-1G>C)
c.1958-1G>C (n.1958-1G>C)
c.6044-1G>C (n.6044-1G>C)
c.5408-1G>C (n.5408-1G>C)
c.2198-1G>C (n.2198-1G>C)
5g.177293831G=CA1603535278NSD1c.5591-1G= (n.5591-1G=)
c.1106-1G= (n.1106-1G=)
n.6047-1G=
n.880-1G=
c.6155-1G= (n.6155-1G=)
n.5861-1G=
c.6464-1G= (n.6464-1G=)
c.5657-1G= (n.5657-1G=)
c.1958-1G= (n.1958-1G=)
c.6044-1G= (n.6044-1G=)
c.5408-1G= (n.5408-1G=)
c.2198-1G= (n.2198-1G=)
5g.177293831G>TCA362323130NSD1c.5591-1G>T (n.5591-1G>T)
c.1106-1G>T (n.1106-1G>T)
n.6047-1G>T
n.880-1G>T
c.6155-1G>T (n.6155-1G>T)
n.5861-1G>T
c.6464-1G>T (n.6464-1G>T)
c.5657-1G>T (n.5657-1G>T)
c.1958-1G>T (n.1958-1G>T)
c.6044-1G>T (n.6044-1G>T)
c.5408-1G>T (n.5408-1G>T)
c.2198-1G>T (n.2198-1G>T)
 dbSNP
5g.177293832G>ACA362323155NSD1c.5591G>A (p.Gly1864Glu)
c.1106G>A (p.Gly369Glu)
n.6047G>A
n.880G>A
c.6155G>A (p.Gly2052Glu)
n.5861G>A
c.6464G>A (p.Gly2155Glu)
c.5657G>A (p.Gly1886Glu)
c.1958G>A (p.Gly653Glu)
c.6044G>A (p.Gly2015Glu)
c.5408G>A (p.Gly1803Glu)
c.2198G>A (p.Gly733Glu)
5g.177293832G>CCA362323146NSD1c.5591G>C (p.Gly1864Ala)
c.1106G>C (p.Gly369Ala)
n.6047G>C
n.880G>C
c.6155G>C (p.Gly2052Ala)
n.5861G>C
c.6464G>C (p.Gly2155Ala)
c.5657G>C (p.Gly1886Ala)
c.1958G>C (p.Gly653Ala)
c.6044G>C (p.Gly2015Ala)
c.5408G>C (p.Gly1803Ala)
c.2198G>C (p.Gly733Ala)
5g.177293832G>TCA362323152NSD1c.5591G>T (p.Gly1864Val)
c.1106G>T (p.Gly369Val)
n.6047G>T
n.880G>T
c.6155G>T (p.Gly2052Val)
n.5861G>T
c.6464G>T (p.Gly2155Val)
c.5657G>T (p.Gly1886Val)
c.1958G>T (p.Gly653Val)
c.6044G>T (p.Gly2015Val)
c.5408G>T (p.Gly1803Val)
c.2198G>T (p.Gly733Val)
5g.177293833G>ACA447961229NSD1c.5592G>A (p.Gly1864=)
c.1107G>A (p.Gly369=)
n.6048G>A
n.881G>A
c.6156G>A (p.Gly2052=)
n.5862G>A
c.6465G>A (p.Gly2155=)
c.5658G>A (p.Gly1886=)
c.1959G>A (p.Gly653=)
c.6045G>A (p.Gly2015=)
c.5409G>A (p.Gly1803=)
c.2199G>A (p.Gly733=)
 gnomAD v4
5g.177293833G>CCA447961230NSD1c.5592G>C (p.Gly1864=)
c.1107G>C (p.Gly369=)
n.6048G>C
n.881G>C
c.6156G>C (p.Gly2052=)
n.5862G>C
c.6465G>C (p.Gly2155=)
c.5658G>C (p.Gly1886=)
c.1959G>C (p.Gly653=)
c.6045G>C (p.Gly2015=)
c.5409G>C (p.Gly1803=)
c.2199G>C (p.Gly733=)
5g.177293833G>TCA447961231NSD1c.5592G>T (p.Gly1864=)
c.1107G>T (p.Gly369=)
n.6048G>T
n.881G>T
c.6156G>T (p.Gly2052=)
n.5862G>T
c.6465G>T (p.Gly2155=)
c.5658G>T (p.Gly1886=)
c.1959G>T (p.Gly653=)
c.6045G>T (p.Gly2015=)
c.5409G>T (p.Gly1803=)
c.2199G>T (p.Gly733=)
5g.177293834A>CCA362323158NSD1c.5593A>C (p.Lys1865Gln)
c.1108A>C (p.Lys370Gln)
n.6049A>C
n.882A>C
c.6157A>C (p.Lys2053Gln)
n.5863A>C
c.6466A>C (p.Lys2156Gln)
c.5659A>C (p.Lys1887Gln)
c.1960A>C (p.Lys654Gln)
c.6046A>C (p.Lys2016Gln)
c.5410A>C (p.Lys1804Gln)
c.2200A>C (p.Lys734Gln)
5g.177293834A>GCA362323161NSD1c.5593A>G (p.Lys1865Glu)
c.1108A>G (p.Lys370Glu)
n.6049A>G
n.882A>G
c.6157A>G (p.Lys2053Glu)
n.5863A>G
c.6466A>G (p.Lys2156Glu)
c.5659A>G (p.Lys1887Glu)
c.1960A>G (p.Lys654Glu)
c.6046A>G (p.Lys2016Glu)
c.5410A>G (p.Lys1804Glu)
c.2200A>G (p.Lys734Glu)
5g.177293834A>TCA362323164NSD1c.5593A>T (p.Lys1865Ter)
c.1108A>T (p.Lys370Ter)
n.6049A>T
n.882A>T
c.6157A>T (p.Lys2053Ter)
n.5863A>T
c.6466A>T (p.Lys2156Ter)
c.5659A>T (p.Lys1887Ter)
c.1960A>T (p.Lys654Ter)
c.6046A>T (p.Lys2016Ter)
c.5410A>T (p.Lys1804Ter)
c.2200A>T (p.Lys734Ter)
5g.177293835A>CCA362323187NSD1c.5594A>C (p.Lys1865Thr)
c.1109A>C (p.Lys370Thr)
n.6050A>C
n.883A>C
c.6158A>C (p.Lys2053Thr)
n.5864A>C
c.6467A>C (p.Lys2156Thr)
c.5660A>C (p.Lys1887Thr)
c.1961A>C (p.Lys654Thr)
c.6047A>C (p.Lys2016Thr)
c.5411A>C (p.Lys1804Thr)
c.2201A>C (p.Lys734Thr)
5g.177293835A>GCA362323183NSD1c.5594A>G (p.Lys1865Arg)
c.1109A>G (p.Lys370Arg)
n.6050A>G
n.883A>G
c.6158A>G (p.Lys2053Arg)
n.5864A>G
c.6467A>G (p.Lys2156Arg)
c.5660A>G (p.Lys1887Arg)
c.1961A>G (p.Lys654Arg)
c.6047A>G (p.Lys2016Arg)
c.5411A>G (p.Lys1804Arg)
c.2201A>G (p.Lys734Arg)
5g.177293835A>TCA362323177NSD1c.5594A>T (p.Lys1865Ile)
c.1109A>T (p.Lys370Ile)
n.6050A>T
n.883A>T
c.6158A>T (p.Lys2053Ile)
n.5864A>T
c.6467A>T (p.Lys2156Ile)
c.5660A>T (p.Lys1887Ile)
c.1961A>T (p.Lys654Ile)
c.6047A>T (p.Lys2016Ile)
c.5411A>T (p.Lys1804Ile)
c.2201A>T (p.Lys734Ile)
5g.177293836A=CA1603535284NSD1c.5595A= (p.Lys1865=)
c.1110A= (p.Lys370=)
n.6051A=
n.884A=
c.6159A= (p.Lys2053=)
n.5865A=
c.6468A= (p.Lys2156=)
c.5661A= (p.Lys1887=)
c.1962A= (p.Lys654=)
c.6048A= (p.Lys2016=)
c.5412A= (p.Lys1804=)
c.2202A= (p.Lys734=)
5g.177293836A>CCA362323192NSD1c.5595A>C (p.Lys1865Asn)
c.1110A>C (p.Lys370Asn)
n.6051A>C
n.884A>C
c.6159A>C (p.Lys2053Asn)
n.5865A>C
c.6468A>C (p.Lys2156Asn)
c.5661A>C (p.Lys1887Asn)
c.1962A>C (p.Lys654Asn)
c.6048A>C (p.Lys2016Asn)
c.5412A>C (p.Lys1804Asn)
c.2202A>C (p.Lys734Asn)
5g.177293836A>GCA3578019NSD1c.5595A>G (p.Lys1865=)
c.1110A>G (p.Lys370=)
n.6051A>G
n.884A>G
c.6159A>G (p.Lys2053=)
n.5865A>G
c.6468A>G (p.Lys2156=)
c.5661A>G (p.Lys1887=)
c.1962A>G (p.Lys654=)
c.6048A>G (p.Lys2016=)
c.5412A>G (p.Lys1804=)
c.2202A>G (p.Lys734=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.177293836A>TCA362323197NSD1c.5595A>T (p.Lys1865Asn)
c.1110A>T (p.Lys370Asn)
n.6051A>T
n.884A>T
c.6159A>T (p.Lys2053Asn)
n.5865A>T
c.6468A>T (p.Lys2156Asn)
c.5661A>T (p.Lys1887Asn)
c.1962A>T (p.Lys654Asn)
c.6048A>T (p.Lys2016Asn)
c.5412A>T (p.Lys1804Asn)
c.2202A>T (p.Lys734Asn)
5g.177293837T>ACA362323202NSD1c.5596T>A (p.Trp1866Arg)
c.1111T>A (p.Trp371Arg)
n.6052T>A
n.885T>A
c.6160T>A (p.Trp2054Arg)
n.5866T>A
c.6469T>A (p.Trp2157Arg)
c.5662T>A (p.Trp1888Arg)
c.1963T>A (p.Trp655Arg)
c.6049T>A (p.Trp2017Arg)
c.5413T>A (p.Trp1805Arg)
c.2203T>A (p.Trp735Arg)
5g.177293837T>CCA362323206NSD1c.5596T>C (p.Trp1866Arg)
c.1111T>C (p.Trp371Arg)
n.6052T>C
n.885T>C
c.6160T>C (p.Trp2054Arg)
n.5866T>C
c.6469T>C (p.Trp2157Arg)
c.5662T>C (p.Trp1888Arg)
c.1963T>C (p.Trp655Arg)
c.6049T>C (p.Trp2017Arg)
c.5413T>C (p.Trp1805Arg)
c.2203T>C (p.Trp735Arg)
5g.177293837T>GCA362323209NSD1c.5596T>G (p.Trp1866Gly)
c.1111T>G (p.Trp371Gly)
n.6052T>G
n.885T>G
c.6160T>G (p.Trp2054Gly)
n.5866T>G
c.6469T>G (p.Trp2157Gly)
c.5662T>G (p.Trp1888Gly)
c.1963T>G (p.Trp655Gly)
c.6049T>G (p.Trp2017Gly)
c.5413T>G (p.Trp1805Gly)
c.2203T>G (p.Trp735Gly)
5g.177293838G>ACA362323212NSD1c.5597G>A (p.Trp1866Ter)
c.1112G>A (p.Trp371Ter)
n.6053G>A
n.886G>A
c.6161G>A (p.Trp2054Ter)
n.5867G>A
c.6470G>A (p.Trp2157Ter)
c.5663G>A (p.Trp1888Ter)
c.1964G>A (p.Trp655Ter)
c.6050G>A (p.Trp2017Ter)
c.5414G>A (p.Trp1805Ter)
c.2204G>A (p.Trp735Ter)
5g.177293838G>CCA362323218NSD1c.5597G>C (p.Trp1866Ser)
c.1112G>C (p.Trp371Ser)
n.6053G>C
n.886G>C
c.6161G>C (p.Trp2054Ser)
n.5867G>C
c.6470G>C (p.Trp2157Ser)
c.5663G>C (p.Trp1888Ser)
c.1964G>C (p.Trp655Ser)
c.6050G>C (p.Trp2017Ser)
c.5414G>C (p.Trp1805Ser)
c.2204G>C (p.Trp735Ser)
5g.177293838G>TCA362323215NSD1c.5597G>T (p.Trp1866Leu)
c.1112G>T (p.Trp371Leu)
n.6053G>T
n.886G>T
c.6161G>T (p.Trp2054Leu)
n.5867G>T
c.6470G>T (p.Trp2157Leu)
c.5663G>T (p.Trp1888Leu)
c.1964G>T (p.Trp655Leu)
c.6050G>T (p.Trp2017Leu)
c.5414G>T (p.Trp1805Leu)
c.2204G>T (p.Trp735Leu)
5g.177293840delCA645548643NSD1c.5599del (p.Glu1867AsnfsTer?)
c.1114del (p.Glu372AsnfsTer?)
n.6055del
n.888del
c.6163del (p.Glu2055AsnfsTer?)
n.5869del
c.6472del (p.Glu2158AsnfsTer?)
c.5665del (p.Glu1889AsnfsTer?)
c.1966del (p.Glu656AsnfsTer?)
c.6052del (p.Glu2018AsnfsTer?)
c.5416del (p.Glu1806AsnfsTer?)
c.2206del (p.Glu736AsnfsTer?)
 COSMIC COSMIC
5g.177293839G>ACA362323222NSD1c.5598G>A (p.Trp1866Ter)
c.1113G>A (p.Trp371Ter)
n.6054G>A
n.887G>A
c.6162G>A (p.Trp2054Ter)
n.5868G>A
c.6471G>A (p.Trp2157Ter)
c.5664G>A (p.Trp1888Ter)
c.1965G>A (p.Trp655Ter)
c.6051G>A (p.Trp2017Ter)
c.5415G>A (p.Trp1805Ter)
c.2205G>A (p.Trp735Ter)
 ClinVar
5g.177293839G>CCA362323227NSD1c.5598G>C (p.Trp1866Cys)
c.1113G>C (p.Trp371Cys)
n.6054G>C
n.887G>C
c.6162G>C (p.Trp2054Cys)
n.5868G>C
c.6471G>C (p.Trp2157Cys)
c.5664G>C (p.Trp1888Cys)
c.1965G>C (p.Trp655Cys)
c.6051G>C (p.Trp2017Cys)
c.5415G>C (p.Trp1805Cys)
c.2205G>C (p.Trp735Cys)
5g.177293839G>TCA362323230NSD1c.5598G>T (p.Trp1866Cys)
c.1113G>T (p.Trp371Cys)
n.6054G>T
n.887G>T
c.6162G>T (p.Trp2054Cys)
n.5868G>T
c.6471G>T (p.Trp2157Cys)
c.5664G>T (p.Trp1888Cys)
c.1965G>T (p.Trp655Cys)
c.6051G>T (p.Trp2017Cys)
c.5415G>T (p.Trp1805Cys)
c.2205G>T (p.Trp735Cys)
5g.177293840G>ACA362323234NSD1c.5599G>A (p.Glu1867Lys)
c.1114G>A (p.Glu372Lys)
n.6055G>A
n.888G>A
c.6163G>A (p.Glu2055Lys)
n.5869G>A
c.6472G>A (p.Glu2158Lys)
c.5665G>A (p.Glu1889Lys)
c.1966G>A (p.Glu656Lys)
c.6052G>A (p.Glu2018Lys)
c.5416G>A (p.Glu1806Lys)
c.2206G>A (p.Glu736Lys)
5g.177293840G>CCA362323237NSD1c.5599G>C (p.Glu1867Gln)
c.1114G>C (p.Glu372Gln)
n.6055G>C
n.888G>C
c.6163G>C (p.Glu2055Gln)
n.5869G>C
c.6472G>C (p.Glu2158Gln)
c.5665G>C (p.Glu1889Gln)
c.1966G>C (p.Glu656Gln)
c.6052G>C (p.Glu2018Gln)
c.5416G>C (p.Glu1806Gln)
c.2206G>C (p.Glu736Gln)
5g.177293840G=CA1603535288NSD1c.5599G= (p.Glu1867=)
c.1114G= (p.Glu372=)
n.6055G=
n.888G=
c.6163G= (p.Glu2055=)
n.5869G=
c.6472G= (p.Glu2158=)
c.5665G= (p.Glu1889=)
c.1966G= (p.Glu656=)
c.6052G= (p.Glu2018=)
c.5416G= (p.Glu1806=)
c.2206G= (p.Glu736=)
5g.177293840G>TCA295083NSD1c.5599G>T (p.Glu1867Ter)
c.1114G>T (p.Glu372Ter)
n.6055G>T
n.888G>T
c.6163G>T (p.Glu2055Ter)
n.5869G>T
c.6472G>T (p.Glu2158Ter)
c.5665G>T (p.Glu1889Ter)
c.1966G>T (p.Glu656Ter)
c.6052G>T (p.Glu2018Ter)
c.5416G>T (p.Glu1806Ter)
c.2206G>T (p.Glu736Ter)
 ClinVar dbSNP
5g.177293841A>CCA362323246NSD1c.5600A>C (p.Glu1867Ala)
c.1115A>C (p.Glu372Ala)
n.6056A>C
n.889A>C
c.6164A>C (p.Glu2055Ala)
n.5870A>C
c.6473A>C (p.Glu2158Ala)
c.5666A>C (p.Glu1889Ala)
c.1967A>C (p.Glu656Ala)
c.6053A>C (p.Glu2018Ala)
c.5417A>C (p.Glu1806Ala)
c.2207A>C (p.Glu736Ala)
5g.177293841A>GCA362323250NSD1c.5600A>G (p.Glu1867Gly)
c.1115A>G (p.Glu372Gly)
n.6056A>G
n.889A>G
c.6164A>G (p.Glu2055Gly)
n.5870A>G
c.6473A>G (p.Glu2158Gly)
c.5666A>G (p.Glu1889Gly)
c.1967A>G (p.Glu656Gly)
c.6053A>G (p.Glu2018Gly)
c.5417A>G (p.Glu1806Gly)
c.2207A>G (p.Glu736Gly)
5g.177293841A>TCA362323255NSD1c.5600A>T (p.Glu1867Val)
c.1115A>T (p.Glu372Val)
n.6056A>T
n.889A>T
c.6164A>T (p.Glu2055Val)
n.5870A>T
c.6473A>T (p.Glu2158Val)
c.5666A>T (p.Glu1889Val)
c.1967A>T (p.Glu656Val)
c.6053A>T (p.Glu2018Val)
c.5417A>T (p.Glu1806Val)
c.2207A>T (p.Glu736Val)
5g.177293842A>CCA362323262NSD1c.5601A>C (p.Glu1867Asp)
c.1116A>C (p.Glu372Asp)
n.6057A>C
n.890A>C
c.6165A>C (p.Glu2055Asp)
n.5871A>C
c.6474A>C (p.Glu2158Asp)
c.5667A>C (p.Glu1889Asp)
c.1968A>C (p.Glu656Asp)
c.6054A>C (p.Glu2018Asp)
c.5418A>C (p.Glu1806Asp)
c.2208A>C (p.Glu736Asp)
5g.177293842A>GCA447961236NSD1c.5601A>G (p.Glu1867=)
c.1116A>G (p.Glu372=)
n.6057A>G
n.890A>G
c.6165A>G (p.Glu2055=)
n.5871A>G
c.6474A>G (p.Glu2158=)
c.5667A>G (p.Glu1889=)
c.1968A>G (p.Glu656=)
c.6054A>G (p.Glu2018=)
c.5418A>G (p.Glu1806=)
c.2208A>G (p.Glu736=)
5g.177293842A>TCA362323264NSD1c.5601A>T (p.Glu1867Asp)
c.1116A>T (p.Glu372Asp)
n.6057A>T
n.890A>T
c.6165A>T (p.Glu2055Asp)
n.5871A>T
c.6474A>T (p.Glu2158Asp)
c.5667A>T (p.Glu1889Asp)
c.1968A>T (p.Glu656Asp)
c.6054A>T (p.Glu2018Asp)
c.5418A>T (p.Glu1806Asp)
c.2208A>T (p.Glu736Asp)
5g.177293842_177293844delCA2580614806NSD1c.5601_5603del (p.Glu1867_Cys1868delinsAsp)
c.1116_1118del (p.Glu372_Cys373delinsAsp)
n.6057_6059del
n.890_892del
c.6165_6167del (p.Glu2055_Cys2056delinsAsp)
n.5871_5873del
c.6474_6476del (p.Glu2158_Cys2159delinsAsp)
c.5667_5669del (p.Glu1889_Cys1890delinsAsp)
c.1968_1970del (p.Glu656_Cys657delinsAsp)
c.6054_6056del (p.Glu2018_Cys2019delinsAsp)
c.5418_5420del (p.Glu1806_Cys1807delinsAsp)
c.2208_2210del (p.Glu736_Cys737delinsAsp)
 ClinVar
5g.177293843T>ACA362323267NSD1c.5602T>A (p.Cys1868Ser)
c.1117T>A (p.Cys373Ser)
n.6058T>A
n.891T>A
c.6166T>A (p.Cys2056Ser)
n.5872T>A
c.6475T>A (p.Cys2159Ser)
c.5668T>A (p.Cys1890Ser)
c.1969T>A (p.Cys657Ser)
c.6055T>A (p.Cys2019Ser)
c.5419T>A (p.Cys1807Ser)
c.2209T>A (p.Cys737Ser)
 ClinVar dbSNP
5g.177293843T>CCA362323266NSD1c.5602T>C (p.Cys1868Arg)
c.1117T>C (p.Cys373Arg)
n.6058T>C
n.891T>C
c.6166T>C (p.Cys2056Arg)
n.5872T>C
c.6475T>C (p.Cys2159Arg)
c.5668T>C (p.Cys1890Arg)
c.1969T>C (p.Cys657Arg)
c.6055T>C (p.Cys2019Arg)
c.5419T>C (p.Cys1807Arg)
c.2209T>C (p.Cys737Arg)
 ClinVar dbSNP
5g.177293843T>GCA362323265NSD1c.5602T>G (p.Cys1868Gly)
c.1117T>G (p.Cys373Gly)
n.6058T>G
n.891T>G
c.6166T>G (p.Cys2056Gly)
n.5872T>G
c.6475T>G (p.Cys2159Gly)
c.5668T>G (p.Cys1890Gly)
c.1969T>G (p.Cys657Gly)
c.6055T>G (p.Cys2019Gly)
c.5419T>G (p.Cys1807Gly)
c.2209T>G (p.Cys737Gly)
5g.177293843T=CA1603535296NSD1c.5602T= (p.Cys1868=)
c.1117T= (p.Cys373=)
n.6058T=
n.891T=
c.6166T= (p.Cys2056=)
n.5872T=
c.6475T= (p.Cys2159=)
c.5668T= (p.Cys1890=)
c.1969T= (p.Cys657=)
c.6055T= (p.Cys2019=)
c.5419T= (p.Cys1807=)
c.2209T= (p.Cys737=)
5g.177293844G>ACA295086NSD1c.5603G>A (p.Cys1868Tyr)
c.1118G>A (p.Cys373Tyr)
n.6059G>A
n.892G>A
c.6167G>A (p.Cys2056Tyr)
n.5873G>A
c.6476G>A (p.Cys2159Tyr)
c.5669G>A (p.Cys1890Tyr)
c.1970G>A (p.Cys657Tyr)
c.6056G>A (p.Cys2019Tyr)
c.5420G>A (p.Cys1807Tyr)
c.2210G>A (p.Cys737Tyr)
 ClinVar dbSNP
5g.177293844G>CCA362323272NSD1c.5603G>C (p.Cys1868Ser)
c.1118G>C (p.Cys373Ser)
n.6059G>C
n.892G>C
c.6167G>C (p.Cys2056Ser)
n.5873G>C
c.6476G>C (p.Cys2159Ser)
c.5669G>C (p.Cys1890Ser)
c.1970G>C (p.Cys657Ser)
c.6056G>C (p.Cys2019Ser)
c.5420G>C (p.Cys1807Ser)
c.2210G>C (p.Cys737Ser)
 COSMIC COSMIC
5g.177293844G=CA1603535305NSD1c.5603G= (p.Cys1868=)
c.1118G= (p.Cys373=)
n.6059G=
n.892G=
c.6167G= (p.Cys2056=)
n.5873G=
c.6476G= (p.Cys2159=)
c.5669G= (p.Cys1890=)
c.1970G= (p.Cys657=)
c.6056G= (p.Cys2019=)
c.5420G= (p.Cys1807=)
c.2210G= (p.Cys737=)
5g.177293844G>TCA362323274NSD1c.5603G>T (p.Cys1868Phe)
c.1118G>T (p.Cys373Phe)
n.6059G>T
n.892G>T
c.6167G>T (p.Cys2056Phe)
n.5873G>T
c.6476G>T (p.Cys2159Phe)
c.5669G>T (p.Cys1890Phe)
c.1970G>T (p.Cys657Phe)
c.6056G>T (p.Cys2019Phe)
c.5420G>T (p.Cys1807Phe)
c.2210G>T (p.Cys737Phe)
5g.177293845T>ACA362323278NSD1c.5604T>A (p.Cys1868Ter)
c.1119T>A (p.Cys373Ter)
n.6060T>A
n.893T>A
c.6168T>A (p.Cys2056Ter)
n.5874T>A
c.6477T>A (p.Cys2159Ter)
c.5670T>A (p.Cys1890Ter)
c.1971T>A (p.Cys657Ter)
c.6057T>A (p.Cys2019Ter)
c.5421T>A (p.Cys1807Ter)
c.2211T>A (p.Cys737Ter)
5g.177293845T>CCA447961240NSD1c.5604T>C (p.Cys1868=)
c.1119T>C (p.Cys373=)
n.6060T>C
n.893T>C
c.6168T>C (p.Cys2056=)
n.5874T>C
c.6477T>C (p.Cys2159=)
c.5670T>C (p.Cys1890=)
c.1971T>C (p.Cys657=)
c.6057T>C (p.Cys2019=)
c.5421T>C (p.Cys1807=)
c.2211T>C (p.Cys737=)
5g.177293845T>GCA362323279NSD1c.5604T>G (p.Cys1868Trp)
c.1119T>G (p.Cys373Trp)
n.6060T>G
n.893T>G
c.6168T>G (p.Cys2056Trp)
n.5874T>G
c.6477T>G (p.Cys2159Trp)
c.5670T>G (p.Cys1890Trp)
c.1971T>G (p.Cys657Trp)
c.6057T>G (p.Cys2019Trp)
c.5421T>G (p.Cys1807Trp)
c.2211T>G (p.Cys737Trp)
5g.177293846C>ACA362323285NSD1c.5605C>A (p.Pro1869Thr)
c.1120C>A (p.Pro374Thr)
n.6061C>A
n.894C>A
c.6169C>A (p.Pro2057Thr)
n.5875C>A
c.6478C>A (p.Pro2160Thr)
c.5671C>A (p.Pro1891Thr)
c.1972C>A (p.Pro658Thr)
c.6058C>A (p.Pro2020Thr)
c.5422C>A (p.Pro1808Thr)
c.2212C>A (p.Pro738Thr)
5g.177293846C>GCA362323287NSD1c.5605C>G (p.Pro1869Ala)
c.1120C>G (p.Pro374Ala)
n.6061C>G
n.894C>G
c.6169C>G (p.Pro2057Ala)
n.5875C>G
c.6478C>G (p.Pro2160Ala)
c.5671C>G (p.Pro1891Ala)
c.1972C>G (p.Pro658Ala)
c.6058C>G (p.Pro2020Ala)
c.5422C>G (p.Pro1808Ala)
c.2212C>G (p.Pro738Ala)
5g.177293846C>TCA362323289NSD1c.5605C>T (p.Pro1869Ser)
c.1120C>T (p.Pro374Ser)
n.6061C>T
n.894C>T
c.6169C>T (p.Pro2057Ser)
n.5875C>T
c.6478C>T (p.Pro2160Ser)
c.5671C>T (p.Pro1891Ser)
c.1972C>T (p.Pro658Ser)
c.6058C>T (p.Pro2020Ser)
c.5422C>T (p.Pro1808Ser)
c.2212C>T (p.Pro738Ser)
5g.177293847C>ACA362323296NSD1c.5606C>A (p.Pro1869Gln)
c.1121C>A (p.Pro374Gln)
n.6062C>A
n.895C>A
c.6170C>A (p.Pro2057Gln)
n.5876C>A
c.6479C>A (p.Pro2160Gln)
c.5672C>A (p.Pro1891Gln)
c.1973C>A (p.Pro658Gln)
c.6059C>A (p.Pro2020Gln)
c.5423C>A (p.Pro1808Gln)
c.2213C>A (p.Pro738Gln)
5g.177293847C=CA1603535311NSD1c.5606C= (p.Pro1869=)
c.1121C= (p.Pro374=)
n.6062C=
n.895C=
c.6170C= (p.Pro2057=)
n.5876C=
c.6479C= (p.Pro2160=)
c.5672C= (p.Pro1891=)
c.1973C= (p.Pro658=)
c.6059C= (p.Pro2020=)
c.5423C= (p.Pro1808=)
c.2213C= (p.Pro738=)
5g.177293847C>GCA362323304NSD1c.5606C>G (p.Pro1869Arg)
c.1121C>G (p.Pro374Arg)
n.6062C>G
n.895C>G
c.6170C>G (p.Pro2057Arg)
n.5876C>G
c.6479C>G (p.Pro2160Arg)
c.5672C>G (p.Pro1891Arg)
c.1973C>G (p.Pro658Arg)
c.6059C>G (p.Pro2020Arg)
c.5423C>G (p.Pro1808Arg)
c.2213C>G (p.Pro738Arg)
5g.177293847C>TCA362323301NSD1c.5606C>T (p.Pro1869Leu)
c.1121C>T (p.Pro374Leu)
n.6062C>T
n.895C>T
c.6170C>T (p.Pro2057Leu)
n.5876C>T
c.6479C>T (p.Pro2160Leu)
c.5672C>T (p.Pro1891Leu)
c.1973C>T (p.Pro658Leu)
c.6059C>T (p.Pro2020Leu)
c.5423C>T (p.Pro1808Leu)
c.2213C>T (p.Pro738Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177293848G>ACA172849NSD1c.5607G>A (p.Pro1869=)
c.1122G>A (p.Pro374=)
n.6063G>A
n.896G>A
c.6171G>A (p.Pro2057=)
n.5877G>A
c.6480G>A (p.Pro2160=)
c.5673G>A (p.Pro1891=)
c.1974G>A (p.Pro658=)
c.6060G>A (p.Pro2020=)
c.5424G>A (p.Pro1808=)
c.2214G>A (p.Pro738=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177293848G>CCA447961242NSD1c.5607G>C (p.Pro1869=)
c.1122G>C (p.Pro374=)
n.6063G>C
n.896G>C
c.6171G>C (p.Pro2057=)
n.5877G>C
c.6480G>C (p.Pro2160=)
c.5673G>C (p.Pro1891=)
c.1974G>C (p.Pro658=)
c.6060G>C (p.Pro2020=)
c.5424G>C (p.Pro1808=)
c.2214G>C (p.Pro738=)
5g.177293848G=CA1603535320NSD1c.5607G= (p.Pro1869=)
c.1122G= (p.Pro374=)
n.6063G=
n.896G=
c.6171G= (p.Pro2057=)
n.5877G=
c.6480G= (p.Pro2160=)
c.5673G= (p.Pro1891=)
c.1974G= (p.Pro658=)
c.6060G= (p.Pro2020=)
c.5424G= (p.Pro1808=)
c.2214G= (p.Pro738=)
5g.177293848G>TCA447961241NSD1c.5607G>T (p.Pro1869=)
c.1122G>T (p.Pro374=)
n.6063G>T
n.896G>T
c.6171G>T (p.Pro2057=)
n.5877G>T
c.6480G>T (p.Pro2160=)
c.5673G>T (p.Pro1891=)
c.1974G>T (p.Pro658=)
c.6060G>T (p.Pro2020=)
c.5424G>T (p.Pro1808=)
c.2214G>T (p.Pro738=)
5g.177293849T>ACA362323312NSD1c.5608T>A (p.Trp1870Arg)
c.1123T>A (p.Trp375Arg)
n.6064T>A
n.897T>A
c.6172T>A (p.Trp2058Arg)
n.5878T>A
c.6481T>A (p.Trp2161Arg)
c.5674T>A (p.Trp1892Arg)
c.1975T>A (p.Trp659Arg)
c.6061T>A (p.Trp2021Arg)
c.5425T>A (p.Trp1809Arg)
c.2215T>A (p.Trp739Arg)
 dbSNP
5g.177293849T>CCA362323314NSD1c.5608T>C (p.Trp1870Arg)
c.1123T>C (p.Trp375Arg)
n.6064T>C
n.897T>C
c.6172T>C (p.Trp2058Arg)
n.5878T>C
c.6481T>C (p.Trp2161Arg)
c.5674T>C (p.Trp1892Arg)
c.1975T>C (p.Trp659Arg)
c.6061T>C (p.Trp2021Arg)
c.5425T>C (p.Trp1809Arg)
c.2215T>C (p.Trp739Arg)
5g.177293849T>GCA362323317NSD1c.5608T>G (p.Trp1870Gly)
c.1123T>G (p.Trp375Gly)
n.6064T>G
n.897T>G
c.6172T>G (p.Trp2058Gly)
n.5878T>G
c.6481T>G (p.Trp2161Gly)
c.5674T>G (p.Trp1892Gly)
c.1975T>G (p.Trp659Gly)
c.6061T>G (p.Trp2021Gly)
c.5425T>G (p.Trp1809Gly)
c.2215T>G (p.Trp739Gly)
5g.177293850G>ACA362323324NSD1c.5609G>A (p.Trp1870Ter)
c.1124G>A (p.Trp375Ter)
n.6065G>A
n.898G>A
c.6173G>A (p.Trp2058Ter)
n.5879G>A
c.6482G>A (p.Trp2161Ter)
c.5675G>A (p.Trp1892Ter)
c.1976G>A (p.Trp659Ter)
c.6062G>A (p.Trp2021Ter)
c.5426G>A (p.Trp1809Ter)
c.2216G>A (p.Trp739Ter)
5g.177293850G>CCA362323329NSD1c.5609G>C (p.Trp1870Ser)
c.1124G>C (p.Trp375Ser)
n.6065G>C
n.898G>C
c.6173G>C (p.Trp2058Ser)
n.5879G>C
c.6482G>C (p.Trp2161Ser)
c.5675G>C (p.Trp1892Ser)
c.1976G>C (p.Trp659Ser)
c.6062G>C (p.Trp2021Ser)
c.5426G>C (p.Trp1809Ser)
c.2216G>C (p.Trp739Ser)
5g.177293850G>TCA362323327NSD1c.5609G>T (p.Trp1870Leu)
c.1124G>T (p.Trp375Leu)
n.6065G>T
n.898G>T
c.6173G>T (p.Trp2058Leu)
n.5879G>T
c.6482G>T (p.Trp2161Leu)
c.5675G>T (p.Trp1892Leu)
c.1976G>T (p.Trp659Leu)
c.6062G>T (p.Trp2021Leu)
c.5426G>T (p.Trp1809Leu)
c.2216G>T (p.Trp739Leu)
5g.177293851G>ACA362323334NSD1c.5610G>A (p.Trp1870Ter)
c.1125G>A (p.Trp375Ter)
n.6066G>A
n.899G>A
c.6174G>A (p.Trp2058Ter)
n.5880G>A
c.6483G>A (p.Trp2161Ter)
c.5676G>A (p.Trp1892Ter)
c.1977G>A (p.Trp659Ter)
c.6063G>A (p.Trp2021Ter)
c.5427G>A (p.Trp1809Ter)
c.2217G>A (p.Trp739Ter)
 dbSNP
5g.177293851G>CCA362323336NSD1c.5610G>C (p.Trp1870Cys)
c.1125G>C (p.Trp375Cys)
n.6066G>C
n.899G>C
c.6174G>C (p.Trp2058Cys)
n.5880G>C
c.6483G>C (p.Trp2161Cys)
c.5676G>C (p.Trp1892Cys)
c.1977G>C (p.Trp659Cys)
c.6063G>C (p.Trp2021Cys)
c.5427G>C (p.Trp1809Cys)
c.2217G>C (p.Trp739Cys)
5g.177293851G>TCA362323339NSD1c.5610G>T (p.Trp1870Cys)
c.1125G>T (p.Trp375Cys)
n.6066G>T
n.899G>T
c.6174G>T (p.Trp2058Cys)
n.5880G>T
c.6483G>T (p.Trp2161Cys)
c.5676G>T (p.Trp1892Cys)
c.1977G>T (p.Trp659Cys)
c.6063G>T (p.Trp2021Cys)
c.5427G>T (p.Trp1809Cys)
c.2217G>T (p.Trp739Cys)
5g.177293851_177293862delinsGCATCAGTGTGACA1603535323NSD1c.5610_5621delinsGCATCAGTGTGA (p.Trp1870=)
c.1125_1136delinsGCATCAGTGTGA (p.Trp375=)
n.6066_6077delinsGCATCAGTGTGA
n.899_910delinsGCATCAGTGTGA
c.6174_6185delinsGCATCAGTGTGA (p.Trp2058=)
n.5880_5891delinsGCATCAGTGTGA
c.6483_6494delinsGCATCAGTGTGA (p.Trp2161=)
c.5676_5687delinsGCATCAGTGTGA (p.Trp1892=)
c.1977_1988delinsGCATCAGTGTGA (p.Trp659=)
c.6063_6074delinsGCATCAGTGTGA (p.Trp2021=)
c.5427_5438delinsGCATCAGTGTGA (p.Trp1809=)
c.2217_2228delinsGCATCAGTGTGA (p.Trp739=)
5g.177293852C>ACA362323343NSD1c.5611C>A (p.His1871Asn)
c.1126C>A (p.His376Asn)
n.6067C>A
n.900C>A
c.6175C>A (p.His2059Asn)
n.5881C>A
c.6484C>A (p.His2162Asn)
c.5677C>A (p.His1893Asn)
c.1978C>A (p.His660Asn)
c.6064C>A (p.His2022Asn)
c.5428C>A (p.His1810Asn)
c.2218C>A (p.His740Asn)
 dbSNP
5g.177293852C>GCA362323346NSD1c.5611C>G (p.His1871Asp)
c.1126C>G (p.His376Asp)
n.6067C>G
n.900C>G
c.6175C>G (p.His2059Asp)
n.5881C>G
c.6484C>G (p.His2162Asp)
c.5677C>G (p.His1893Asp)
c.1978C>G (p.His660Asp)
c.6064C>G (p.His2022Asp)
c.5428C>G (p.His1810Asp)
c.2218C>G (p.His740Asp)
5g.177293852C>TCA362323349NSD1c.5611C>T (p.His1871Tyr)
c.1126C>T (p.His376Tyr)
n.6067C>T
n.900C>T
c.6175C>T (p.His2059Tyr)
n.5881C>T
c.6484C>T (p.His2162Tyr)
c.5677C>T (p.His1893Tyr)
c.1978C>T (p.His660Tyr)
c.6064C>T (p.His2022Tyr)
c.5428C>T (p.His1810Tyr)
c.2218C>T (p.His740Tyr)
5g.177293856_177293866delCA1139659263NSD1c.5615_5625del (p.Gln1872LeufsTer10)
c.1130_1140del (p.Gln377LeufsTer10)
n.6071_6081del
n.904_914del
c.6179_6189del (p.Gln2060LeufsTer10)
n.5885_5895del
c.6488_6498del (p.Gln2163LeufsTer10)
c.5681_5691del (p.Gln1894LeufsTer10)
c.1982_1992del (p.Gln661LeufsTer10)
c.6068_6078del (p.Gln2023LeufsTer10)
c.5432_5442del (p.Gln1811LeufsTer10)
c.2222_2232del (p.Gln741LeufsTer10)
 ClinVar dbSNP
5g.177293853A=CA1603535336NSD1c.5612A= (p.His1871=)
c.1127A= (p.His376=)
n.6068A=
n.901A=
c.6176A= (p.His2059=)
n.5882A=
c.6485A= (p.His2162=)
c.5678A= (p.His1893=)
c.1979A= (p.His660=)
c.6065A= (p.His2022=)
c.5429A= (p.His1810=)
c.2219A= (p.His740=)
5g.177293853A>CCA295089NSD1c.5612A>C (p.His1871Pro)
c.1127A>C (p.His376Pro)
n.6068A>C
n.901A>C
c.6176A>C (p.His2059Pro)
n.5882A>C
c.6485A>C (p.His2162Pro)
c.5678A>C (p.His1893Pro)
c.1979A>C (p.His660Pro)
c.6065A>C (p.His2022Pro)
c.5429A>C (p.His1810Pro)
c.2219A>C (p.His740Pro)
 ClinVar dbSNP
5g.177293853A>GCA362323355NSD1c.5612A>G (p.His1871Arg)
c.1127A>G (p.His376Arg)
n.6068A>G
n.901A>G
c.6176A>G (p.His2059Arg)
n.5882A>G
c.6485A>G (p.His2162Arg)
c.5678A>G (p.His1893Arg)
c.1979A>G (p.His660Arg)
c.6065A>G (p.His2022Arg)
c.5429A>G (p.His1810Arg)
c.2219A>G (p.His740Arg)
5g.177293853A>TCA362323358NSD1c.5612A>T (p.His1871Leu)
c.1127A>T (p.His376Leu)
n.6068A>T
n.901A>T
c.6176A>T (p.His2059Leu)
n.5882A>T
c.6485A>T (p.His2162Leu)
c.5678A>T (p.His1893Leu)
c.1979A>T (p.His660Leu)
c.6065A>T (p.His2022Leu)
c.5429A>T (p.His1810Leu)
c.2219A>T (p.His740Leu)
5g.177293854T>ACA362323362NSD1c.5613T>A (p.His1871Gln)
c.1128T>A (p.His376Gln)
n.6069T>A
n.902T>A
c.6177T>A (p.His2059Gln)
n.5883T>A
c.6486T>A (p.His2162Gln)
c.5679T>A (p.His1893Gln)
c.1980T>A (p.His660Gln)
c.6066T>A (p.His2022Gln)
c.5430T>A (p.His1810Gln)
c.2220T>A (p.His740Gln)
 dbSNP
5g.177293854T>CCA447961245NSD1c.5613T>C (p.His1871=)
c.1128T>C (p.His376=)
n.6069T>C
n.902T>C
c.6177T>C (p.His2059=)
n.5883T>C
c.6486T>C (p.His2162=)
c.5679T>C (p.His1893=)
c.1980T>C (p.His660=)
c.6066T>C (p.His2022=)
c.5430T>C (p.His1810=)
c.2220T>C (p.His740=)
 dbSNP
5g.177293854T>GCA362323364NSD1c.5613T>G (p.His1871Gln)
c.1128T>G (p.His376Gln)
n.6069T>G
n.902T>G
c.6177T>G (p.His2059Gln)
n.5883T>G
c.6486T>G (p.His2162Gln)
c.5679T>G (p.His1893Gln)
c.1980T>G (p.His660Gln)
c.6066T>G (p.His2022Gln)
c.5430T>G (p.His1810Gln)
c.2220T>G (p.His740Gln)
 ClinVar dbSNP
5g.177293855C>ACA362323382NSD1c.5614C>A (p.Gln1872Lys)
c.1129C>A (p.Gln377Lys)
n.6070C>A
n.903C>A
c.6178C>A (p.Gln2060Lys)
n.5884C>A
c.6487C>A (p.Gln2163Lys)
c.5680C>A (p.Gln1894Lys)
c.1981C>A (p.Gln661Lys)
c.6067C>A (p.Gln2023Lys)
c.5431C>A (p.Gln1811Lys)
c.2221C>A (p.Gln741Lys)
 dbSNP
5g.177293855C=CA1603535346NSD1c.5614C= (p.Gln1872=)
c.1129C= (p.Gln377=)
n.6070C=
n.903C=
c.6178C= (p.Gln2060=)
n.5884C=
c.6487C= (p.Gln2163=)
c.5680C= (p.Gln1894=)
c.1981C= (p.Gln661=)
c.6067C= (p.Gln2023=)
c.5431C= (p.Gln1811=)
c.2221C= (p.Gln741=)
5g.177293855C>GCA362323368NSD1c.5614C>G (p.Gln1872Glu)
c.1129C>G (p.Gln377Glu)
n.6070C>G
n.903C>G
c.6178C>G (p.Gln2060Glu)
n.5884C>G
c.6487C>G (p.Gln2163Glu)
c.5680C>G (p.Gln1894Glu)
c.1981C>G (p.Gln661Glu)
c.6067C>G (p.Gln2023Glu)
c.5431C>G (p.Gln1811Glu)
c.2221C>G (p.Gln741Glu)
 dbSNP gnomAD v3 gnomAD v4
5g.177293855C>TCA16611920NSD1c.5614C>T (p.Gln1872Ter)
c.1129C>T (p.Gln377Ter)
n.6070C>T
n.903C>T
c.6178C>T (p.Gln2060Ter)
n.5884C>T
c.6487C>T (p.Gln2163Ter)
c.5680C>T (p.Gln1894Ter)
c.1981C>T (p.Gln661Ter)
c.6067C>T (p.Gln2023Ter)
c.5431C>T (p.Gln1811Ter)
c.2221C>T (p.Gln741Ter)
 ClinVar dbSNP
5g.177293856delCA2573052479NSD1c.5615del (p.Gln1872ArgfsTer?)
c.1130del (p.Gln377ArgfsTer?)
n.6071del
n.904del
c.6179del (p.Gln2060ArgfsTer?)
n.5885del
c.6488del (p.Gln2163ArgfsTer?)
c.5681del (p.Gln1894ArgfsTer?)
c.1982del (p.Gln661ArgfsTer?)
c.6068del (p.Gln2023ArgfsTer?)
c.5432del (p.Gln1811ArgfsTer?)
c.2222del (p.Gln741ArgfsTer?)
 ClinVar dbSNP
5g.177293856A>CCA362323385NSD1c.5615A>C (p.Gln1872Pro)
c.1130A>C (p.Gln377Pro)
n.6071A>C
n.904A>C
c.6179A>C (p.Gln2060Pro)
n.5885A>C
c.6488A>C (p.Gln2163Pro)
c.5681A>C (p.Gln1894Pro)
c.1982A>C (p.Gln661Pro)
c.6068A>C (p.Gln2023Pro)
c.5432A>C (p.Gln1811Pro)
c.2222A>C (p.Gln741Pro)
5g.177293856A>GCA362323393NSD1c.5615A>G (p.Gln1872Arg)
c.1130A>G (p.Gln377Arg)
n.6071A>G
n.904A>G
c.6179A>G (p.Gln2060Arg)
n.5885A>G
c.6488A>G (p.Gln2163Arg)
c.5681A>G (p.Gln1894Arg)
c.1982A>G (p.Gln661Arg)
c.6068A>G (p.Gln2023Arg)
c.5432A>G (p.Gln1811Arg)
c.2222A>G (p.Gln741Arg)
 dbSNP
5g.177293856A>TCA362323388NSD1c.5615A>T (p.Gln1872Leu)
c.1130A>T (p.Gln377Leu)
n.6071A>T
n.904A>T
c.6179A>T (p.Gln2060Leu)
n.5885A>T
c.6488A>T (p.Gln2163Leu)
c.5681A>T (p.Gln1894Leu)
c.1982A>T (p.Gln661Leu)
c.6068A>T (p.Gln2023Leu)
c.5432A>T (p.Gln1811Leu)
c.2222A>T (p.Gln741Leu)
5g.177293857G>ACA447961248NSD1c.5616G>A (p.Gln1872=)
c.1131G>A (p.Gln377=)
n.6072G>A
n.905G>A
c.6180G>A (p.Gln2060=)
n.5886G>A
c.6489G>A (p.Gln2163=)
c.5682G>A (p.Gln1894=)
c.1983G>A (p.Gln661=)
c.6069G>A (p.Gln2023=)
c.5433G>A (p.Gln1811=)
c.2223G>A (p.Gln741=)
5g.177293857G>CCA362323395NSD1c.5616G>C (p.Gln1872His)
c.1131G>C (p.Gln377His)
n.6072G>C
n.905G>C
c.6180G>C (p.Gln2060His)
n.5886G>C
c.6489G>C (p.Gln2163His)
c.5682G>C (p.Gln1894His)
c.1983G>C (p.Gln661His)
c.6069G>C (p.Gln2023His)
c.5433G>C (p.Gln1811His)
c.2223G>C (p.Gln741His)
5g.177293857G>TCA362323400NSD1c.5616G>T (p.Gln1872His)
c.1131G>T (p.Gln377His)
n.6072G>T
n.905G>T
c.6180G>T (p.Gln2060His)
n.5886G>T
c.6489G>T (p.Gln2163His)
c.5682G>T (p.Gln1894His)
c.1983G>T (p.Gln661His)
c.6069G>T (p.Gln2023His)
c.5433G>T (p.Gln1811His)
c.2223G>T (p.Gln741His)
5g.177293858T>ACA362323404NSD1c.5617T>A (p.Cys1873Ser)
c.1132T>A (p.Cys378Ser)
n.6073T>A
n.906T>A
c.6181T>A (p.Cys2061Ser)
n.5887T>A
c.6490T>A (p.Cys2164Ser)
c.5683T>A (p.Cys1895Ser)
c.1984T>A (p.Cys662Ser)
c.6070T>A (p.Cys2024Ser)
c.5434T>A (p.Cys1812Ser)
c.2224T>A (p.Cys742Ser)
5g.177293858T>CCA362323405NSD1c.5617T>C (p.Cys1873Arg)
c.1132T>C (p.Cys378Arg)
n.6073T>C
n.906T>C
c.6181T>C (p.Cys2061Arg)
n.5887T>C
c.6490T>C (p.Cys2164Arg)
c.5683T>C (p.Cys1895Arg)
c.1984T>C (p.Cys662Arg)
c.6070T>C (p.Cys2024Arg)
c.5434T>C (p.Cys1812Arg)
c.2224T>C (p.Cys742Arg)
 ClinVar dbSNP
5g.177293858T>GCA362323406NSD1c.5617T>G (p.Cys1873Gly)
c.1132T>G (p.Cys378Gly)
n.6073T>G
n.906T>G
c.6181T>G (p.Cys2061Gly)
n.5887T>G
c.6490T>G (p.Cys2164Gly)
c.5683T>G (p.Cys1895Gly)
c.1984T>G (p.Cys662Gly)
c.6070T>G (p.Cys2024Gly)
c.5434T>G (p.Cys1812Gly)
c.2224T>G (p.Cys742Gly)
5g.177293858T=CA1603535351NSD1c.5617T= (p.Cys1873=)
c.1132T= (p.Cys378=)
n.6073T=
n.906T=
c.6181T= (p.Cys2061=)
n.5887T=
c.6490T= (p.Cys2164=)
c.5683T= (p.Cys1895=)
c.1984T= (p.Cys662=)
c.6070T= (p.Cys2024=)
c.5434T= (p.Cys1812=)
c.2224T= (p.Cys742=)
5g.177293859G>ACA362323410NSD1c.5618G>A (p.Cys1873Tyr)
c.1133G>A (p.Cys378Tyr)
n.6074G>A
n.907G>A
c.6182G>A (p.Cys2061Tyr)
n.5888G>A
c.6491G>A (p.Cys2164Tyr)
c.5684G>A (p.Cys1895Tyr)
c.1985G>A (p.Cys662Tyr)
c.6071G>A (p.Cys2024Tyr)
c.5435G>A (p.Cys1812Tyr)
c.2225G>A (p.Cys742Tyr)
5g.177293859G>CCA362323412NSD1c.5618G>C (p.Cys1873Ser)
c.1133G>C (p.Cys378Ser)
n.6074G>C
n.907G>C
c.6182G>C (p.Cys2061Ser)
n.5888G>C
c.6491G>C (p.Cys2164Ser)
c.5684G>C (p.Cys1895Ser)
c.1985G>C (p.Cys662Ser)
c.6071G>C (p.Cys2024Ser)
c.5435G>C (p.Cys1812Ser)
c.2225G>C (p.Cys742Ser)
5g.177293859G=CA1603535354NSD1c.5618G= (p.Cys1873=)
c.1133G= (p.Cys378=)
n.6074G=
n.907G=
c.6182G= (p.Cys2061=)
n.5888G=
c.6491G= (p.Cys2164=)
c.5684G= (p.Cys1895=)
c.1985G= (p.Cys662=)
c.6071G= (p.Cys2024=)
c.5435G= (p.Cys1812=)
c.2225G= (p.Cys742=)
5g.177293859G>TCA362323416NSD1c.5618G>T (p.Cys1873Phe)
c.1133G>T (p.Cys378Phe)
n.6074G>T
n.907G>T
c.6182G>T (p.Cys2061Phe)
n.5888G>T
c.6491G>T (p.Cys2164Phe)
c.5684G>T (p.Cys1895Phe)
c.1985G>T (p.Cys662Phe)
c.6071G>T (p.Cys2024Phe)
c.5435G>T (p.Cys1812Phe)
c.2225G>T (p.Cys742Phe)
5g.177293860T>ACA362323418NSD1c.5619T>A (p.Cys1873Ter)
c.1134T>A (p.Cys378Ter)
n.6075T>A
n.908T>A
c.6183T>A (p.Cys2061Ter)
n.5889T>A
c.6492T>A (p.Cys2164Ter)
c.5685T>A (p.Cys1895Ter)
c.1986T>A (p.Cys662Ter)
c.6072T>A (p.Cys2024Ter)
c.5436T>A (p.Cys1812Ter)
c.2226T>A (p.Cys742Ter)
5g.177293860T>CCA447961250NSD1c.5619T>C (p.Cys1873=)
c.1134T>C (p.Cys378=)
n.6075T>C
n.908T>C
c.6183T>C (p.Cys2061=)
n.5889T>C
c.6492T>C (p.Cys2164=)
c.5685T>C (p.Cys1895=)
c.1986T>C (p.Cys662=)
c.6072T>C (p.Cys2024=)
c.5436T>C (p.Cys1812=)
c.2226T>C (p.Cys742=)
 dbSNP gnomAD v2 gnomAD v4
5g.177293860T>GCA362323420NSD1c.5619T>G (p.Cys1873Trp)
c.1134T>G (p.Cys378Trp)
n.6075T>G
n.908T>G
c.6183T>G (p.Cys2061Trp)
n.5889T>G
c.6492T>G (p.Cys2164Trp)
c.5685T>G (p.Cys1895Trp)
c.1986T>G (p.Cys662Trp)
c.6072T>G (p.Cys2024Trp)
c.5436T>G (p.Cys1812Trp)
c.2226T>G (p.Cys742Trp)
5g.177293860T=CA1603535359NSD1c.5619T= (p.Cys1873=)
c.1134T= (p.Cys378=)
n.6075T=
n.908T=
c.6183T= (p.Cys2061=)
n.5889T=
c.6492T= (p.Cys2164=)
c.5685T= (p.Cys1895=)
c.1986T= (p.Cys662=)
c.6072T= (p.Cys2024=)
c.5436T= (p.Cys1812=)
c.2226T= (p.Cys742=)
5g.177293860dupCA658655921NSD1c.5619dup (p.Asp1874Ter)
c.1134dup (p.Asp379Ter)
n.6075dup
n.908dup
c.6183dup (p.Asp2062Ter)
n.5889dup
c.6492dup (p.Asp2165Ter)
c.5685dup (p.Asp1896Ter)
c.1986dup (p.Asp663Ter)
c.6072dup (p.Asp2025Ter)
c.5436dup (p.Asp1813Ter)
c.2226dup (p.Asp743Ter)
 ClinVar dbSNP
5g.177293861G>ACA362323424NSD1c.5620G>A (p.Asp1874Asn)
c.1135G>A (p.Asp379Asn)
n.6076G>A
n.909G>A
c.6184G>A (p.Asp2062Asn)
n.5890G>A
c.6493G>A (p.Asp2165Asn)
c.5686G>A (p.Asp1896Asn)
c.1987G>A (p.Asp663Asn)
c.6073G>A (p.Asp2025Asn)
c.5437G>A (p.Asp1813Asn)
c.2227G>A (p.Asp743Asn)
5g.177293861G>CCA362323438NSD1c.5620G>C (p.Asp1874His)
c.1135G>C (p.Asp379His)
n.6076G>C
n.909G>C
c.6184G>C (p.Asp2062His)
n.5890G>C
c.6493G>C (p.Asp2165His)
c.5686G>C (p.Asp1896His)
c.1987G>C (p.Asp663His)
c.6073G>C (p.Asp2025His)
c.5437G>C (p.Asp1813His)
c.2227G>C (p.Asp743His)
5g.177293861G>TCA362323435NSD1c.5620G>T (p.Asp1874Tyr)
c.1135G>T (p.Asp379Tyr)
n.6076G>T
n.909G>T
c.6184G>T (p.Asp2062Tyr)
n.5890G>T
c.6493G>T (p.Asp2165Tyr)
c.5686G>T (p.Asp1896Tyr)
c.1987G>T (p.Asp663Tyr)
c.6073G>T (p.Asp2025Tyr)
c.5437G>T (p.Asp1813Tyr)
c.2227G>T (p.Asp743Tyr)
5g.177293862A>CCA362323445NSD1c.5621A>C (p.Asp1874Ala)
c.1136A>C (p.Asp379Ala)
n.6077A>C
n.910A>C
c.6185A>C (p.Asp2062Ala)
n.5891A>C
c.6494A>C (p.Asp2165Ala)
c.5687A>C (p.Asp1896Ala)
c.1988A>C (p.Asp663Ala)
c.6074A>C (p.Asp2025Ala)
c.5438A>C (p.Asp1813Ala)
c.2228A>C (p.Asp743Ala)
5g.177293862A>GCA362323447NSD1c.5621A>G (p.Asp1874Gly)
c.1136A>G (p.Asp379Gly)
n.6077A>G
n.910A>G
c.6185A>G (p.Asp2062Gly)
n.5891A>G
c.6494A>G (p.Asp2165Gly)
c.5687A>G (p.Asp1896Gly)
c.1988A>G (p.Asp663Gly)
c.6074A>G (p.Asp2025Gly)
c.5438A>G (p.Asp1813Gly)
c.2228A>G (p.Asp743Gly)
5g.177293862A>TCA362323450NSD1c.5621A>T (p.Asp1874Val)
c.1136A>T (p.Asp379Val)
n.6077A>T
n.910A>T
c.6185A>T (p.Asp2062Val)
n.5891A>T
c.6494A>T (p.Asp2165Val)
c.5687A>T (p.Asp1896Val)
c.1988A>T (p.Asp663Val)
c.6074A>T (p.Asp2025Val)
c.5438A>T (p.Asp1813Val)
c.2228A>T (p.Asp743Val)
5g.177293863C>ACA362323455NSD1c.5622C>A (p.Asp1874Glu)
c.1137C>A (p.Asp379Glu)
n.6078C>A
n.911C>A
c.6186C>A (p.Asp2062Glu)
n.5892C>A
c.6495C>A (p.Asp2165Glu)
c.5688C>A (p.Asp1896Glu)
c.1989C>A (p.Asp663Glu)
c.6075C>A (p.Asp2025Glu)
c.5439C>A (p.Asp1813Glu)
c.2229C>A (p.Asp743Glu)
5g.177293863C>GCA362323457NSD1c.5622C>G (p.Asp1874Glu)
c.1137C>G (p.Asp379Glu)
n.6078C>G
n.911C>G
c.6186C>G (p.Asp2062Glu)
n.5892C>G
c.6495C>G (p.Asp2165Glu)
c.5688C>G (p.Asp1896Glu)
c.1989C>G (p.Asp663Glu)
c.6075C>G (p.Asp2025Glu)
c.5439C>G (p.Asp1813Glu)
c.2229C>G (p.Asp743Glu)
5g.177293863C>TCA447961252NSD1c.5622C>T (p.Asp1874=)
c.1137C>T (p.Asp379=)
n.6078C>T
n.911C>T
c.6186C>T (p.Asp2062=)
n.5892C>T
c.6495C>T (p.Asp2165=)
c.5688C>T (p.Asp1896=)
c.1989C>T (p.Asp663=)
c.6075C>T (p.Asp2025=)
c.5439C>T (p.Asp1813=)
c.2229C>T (p.Asp743=)
5g.177293864A>CCA362323461NSD1c.5623A>C (p.Ile1875Leu)
c.1138A>C (p.Ile380Leu)
n.6079A>C
n.912A>C
c.6187A>C (p.Ile2063Leu)
n.5893A>C
c.6496A>C (p.Ile2166Leu)
c.5689A>C (p.Ile1897Leu)
c.1990A>C (p.Ile664Leu)
c.6076A>C (p.Ile2026Leu)
c.5440A>C (p.Ile1814Leu)
c.2230A>C (p.Ile744Leu)
5g.177293864A>GCA362323464NSD1c.5623A>G (p.Ile1875Val)
c.1138A>G (p.Ile380Val)
n.6079A>G
n.912A>G
c.6187A>G (p.Ile2063Val)
n.5893A>G
c.6496A>G (p.Ile2166Val)
c.5689A>G (p.Ile1897Val)
c.1990A>G (p.Ile664Val)
c.6076A>G (p.Ile2026Val)
c.5440A>G (p.Ile1814Val)
c.2230A>G (p.Ile744Val)
5g.177293864A>TCA362323462NSD1c.5623A>T (p.Ile1875Phe)
c.1138A>T (p.Ile380Phe)
n.6079A>T
n.912A>T
c.6187A>T (p.Ile2063Phe)
n.5893A>T
c.6496A>T (p.Ile2166Phe)
c.5689A>T (p.Ile1897Phe)
c.1990A>T (p.Ile664Phe)
c.6076A>T (p.Ile2026Phe)
c.5440A>T (p.Ile1814Phe)
c.2230A>T (p.Ile744Phe)
5g.177293865T>ACA362323467NSD1c.5624T>A (p.Ile1875Asn)
c.1139T>A (p.Ile380Asn)
n.6080T>A
n.913T>A
c.6188T>A (p.Ile2063Asn)
n.5894T>A
c.6497T>A (p.Ile2166Asn)
c.5690T>A (p.Ile1897Asn)
c.1991T>A (p.Ile664Asn)
c.6077T>A (p.Ile2026Asn)
c.5441T>A (p.Ile1814Asn)
c.2231T>A (p.Ile744Asn)
5g.177293865T>CCA362323469NSD1c.5624T>C (p.Ile1875Thr)
c.1139T>C (p.Ile380Thr)
n.6080T>C
n.913T>C
c.6188T>C (p.Ile2063Thr)
n.5894T>C
c.6497T>C (p.Ile2166Thr)
c.5690T>C (p.Ile1897Thr)
c.1991T>C (p.Ile664Thr)
c.6077T>C (p.Ile2026Thr)
c.5441T>C (p.Ile1814Thr)
c.2231T>C (p.Ile744Thr)
 gnomAD v4
5g.177293865T>GCA362323471NSD1c.5624T>G (p.Ile1875Ser)
c.1139T>G (p.Ile380Ser)
n.6080T>G
n.913T>G
c.6188T>G (p.Ile2063Ser)
n.5894T>G
c.6497T>G (p.Ile2166Ser)
c.5690T>G (p.Ile1897Ser)
c.1991T>G (p.Ile664Ser)
c.6077T>G (p.Ile2026Ser)
c.5441T>G (p.Ile1814Ser)
c.2231T>G (p.Ile744Ser)
5g.177293866C>ACA447961254NSD1c.5625C>A (p.Ile1875=)
c.1140C>A (p.Ile380=)
n.6081C>A
n.914C>A
c.6189C>A (p.Ile2063=)
n.5895C>A
c.6498C>A (p.Ile2166=)
c.5691C>A (p.Ile1897=)
c.1992C>A (p.Ile664=)
c.6078C>A (p.Ile2026=)
c.5442C>A (p.Ile1814=)
c.2232C>A (p.Ile744=)
5g.177293866C>GCA362323476NSD1c.5625C>G (p.Ile1875Met)
c.1140C>G (p.Ile380Met)
n.6081C>G
n.914C>G
c.6189C>G (p.Ile2063Met)
n.5895C>G
c.6498C>G (p.Ile2166Met)
c.5691C>G (p.Ile1897Met)
c.1992C>G (p.Ile664Met)
c.6078C>G (p.Ile2026Met)
c.5442C>G (p.Ile1814Met)
c.2232C>G (p.Ile744Met)
 dbSNP
5g.177293866C>TCA447961257NSD1c.5625C>T (p.Ile1875=)
c.1140C>T (p.Ile380=)
n.6081C>T
n.914C>T
c.6189C>T (p.Ile2063=)
n.5895C>T
c.6498C>T (p.Ile2166=)
c.5691C>T (p.Ile1897=)
c.1992C>T (p.Ile664=)
c.6078C>T (p.Ile2026=)
c.5442C>T (p.Ile1814=)
c.2232C>T (p.Ile744=)
5g.177293867T>ACA362323479NSD1c.5626T>A (p.Cys1876Ser)
c.1141T>A (p.Cys381Ser)
n.6082T>A
n.915T>A
c.6190T>A (p.Cys2064Ser)
n.5896T>A
c.6499T>A (p.Cys2167Ser)
c.5692T>A (p.Cys1898Ser)
c.1993T>A (p.Cys665Ser)
c.6079T>A (p.Cys2027Ser)
c.5443T>A (p.Cys1815Ser)
c.2233T>A (p.Cys745Ser)
5g.177293867T>CCA362323481NSD1c.5626T>C (p.Cys1876Arg)
c.1141T>C (p.Cys381Arg)
n.6082T>C
n.915T>C
c.6190T>C (p.Cys2064Arg)
n.5896T>C
c.6499T>C (p.Cys2167Arg)
c.5692T>C (p.Cys1898Arg)
c.1993T>C (p.Cys665Arg)
c.6079T>C (p.Cys2027Arg)
c.5443T>C (p.Cys1815Arg)
c.2233T>C (p.Cys745Arg)
5g.177293867T>GCA362323484NSD1c.5626T>G (p.Cys1876Gly)
c.1141T>G (p.Cys381Gly)
n.6082T>G
n.915T>G
c.6190T>G (p.Cys2064Gly)
n.5896T>G
c.6499T>G (p.Cys2167Gly)
c.5692T>G (p.Cys1898Gly)
c.1993T>G (p.Cys665Gly)
c.6079T>G (p.Cys2027Gly)
c.5443T>G (p.Cys1815Gly)
c.2233T>G (p.Cys745Gly)
5g.177293868G>ACA295092NSD1c.5627G>A (p.Cys1876Tyr)
c.1142G>A (p.Cys381Tyr)
n.6083G>A
n.916G>A
c.6191G>A (p.Cys2064Tyr)
n.5897G>A
c.6500G>A (p.Cys2167Tyr)
c.5693G>A (p.Cys1898Tyr)
c.1994G>A (p.Cys665Tyr)
c.6080G>A (p.Cys2027Tyr)
c.5444G>A (p.Cys1815Tyr)
c.2234G>A (p.Cys745Tyr)
 ClinVar dbSNP
5g.177293868G>CCA362323490NSD1c.5627G>C (p.Cys1876Ser)
c.1142G>C (p.Cys381Ser)
n.6083G>C
n.916G>C
c.6191G>C (p.Cys2064Ser)
n.5897G>C
c.6500G>C (p.Cys2167Ser)
c.5693G>C (p.Cys1898Ser)
c.1994G>C (p.Cys665Ser)
c.6080G>C (p.Cys2027Ser)
c.5444G>C (p.Cys1815Ser)
c.2234G>C (p.Cys745Ser)
5g.177293868G=CA1603535371NSD1c.5627G= (p.Cys1876=)
c.1142G= (p.Cys381=)
n.6083G=
n.916G=
c.6191G= (p.Cys2064=)
n.5897G=
c.6500G= (p.Cys2167=)
c.5693G= (p.Cys1898=)
c.1994G= (p.Cys665=)
c.6080G= (p.Cys2027=)
c.5444G= (p.Cys1815=)
c.2234G= (p.Cys745=)
5g.177293868G>TCA362323492NSD1c.5627G>T (p.Cys1876Phe)
c.1142G>T (p.Cys381Phe)
n.6083G>T
n.916G>T
c.6191G>T (p.Cys2064Phe)
n.5897G>T
c.6500G>T (p.Cys2167Phe)
c.5693G>T (p.Cys1898Phe)
c.1994G>T (p.Cys665Phe)
c.6080G>T (p.Cys2027Phe)
c.5444G>T (p.Cys1815Phe)
c.2234G>T (p.Cys745Phe)
5g.177293869_177293872delCA2769563011NSD1c.5628_5631del (p.Cys1876Ter)
c.1143_1146del (p.Cys381Ter)
n.6084_6087del
n.917_920del
c.6192_6195del (p.Cys2064Ter)
n.5898_5901del
c.6501_6504del (p.Cys2167Ter)
c.5694_5697del (p.Cys1898Ter)
c.1995_1998del (p.Cys665Ter)
c.6081_6084del (p.Cys2027Ter)
c.5445_5448del (p.Cys1815Ter)
c.2235_2238del (p.Cys745Ter)
5g.177293869C>ACA362323496NSD1c.5628C>A (p.Cys1876Ter)
c.1143C>A (p.Cys381Ter)
n.6084C>A
n.917C>A
c.6192C>A (p.Cys2064Ter)
n.5898C>A
c.6501C>A (p.Cys2167Ter)
c.5694C>A (p.Cys1898Ter)
c.1995C>A (p.Cys665Ter)
c.6081C>A (p.Cys2027Ter)
c.5445C>A (p.Cys1815Ter)
c.2235C>A (p.Cys745Ter)
 ClinVar
5g.177293869C=CA1603535379NSD1c.5628C= (p.Cys1876=)
c.1143C= (p.Cys381=)
n.6084C=
n.917C=
c.6192C= (p.Cys2064=)
n.5898C=
c.6501C= (p.Cys2167=)
c.5694C= (p.Cys1898=)
c.1995C= (p.Cys665=)
c.6081C= (p.Cys2027=)
c.5445C= (p.Cys1815=)
c.2235C= (p.Cys745=)
5g.177293869C>GCA362323499NSD1c.5628C>G (p.Cys1876Trp)
c.1143C>G (p.Cys381Trp)
n.6084C>G
n.917C>G
c.6192C>G (p.Cys2064Trp)
n.5898C>G
c.6501C>G (p.Cys2167Trp)
c.5694C>G (p.Cys1898Trp)
c.1995C>G (p.Cys665Trp)
c.6081C>G (p.Cys2027Trp)
c.5445C>G (p.Cys1815Trp)
c.2235C>G (p.Cys745Trp)
5g.177293869C>TCA132862418NSD1c.5628C>T (p.Cys1876=)
c.1143C>T (p.Cys381=)
n.6084C>T
n.917C>T
c.6192C>T (p.Cys2064=)
n.5898C>T
c.6501C>T (p.Cys2167=)
c.5694C>T (p.Cys1898=)
c.1995C>T (p.Cys665=)
c.6081C>T (p.Cys2027=)
c.5445C>T (p.Cys1815=)
c.2235C>T (p.Cys745=)
 dbSNP gnomAD v3 gnomAD v4
5g.177293870G>ACA362323505NSD1c.5629G>A (p.Gly1877Arg)
c.1144G>A (p.Gly382Arg)
n.6085G>A
n.918G>A
c.6193G>A (p.Gly2065Arg)
n.5899G>A
c.6502G>A (p.Gly2168Arg)
c.5695G>A (p.Gly1899Arg)
c.1996G>A (p.Gly666Arg)
c.6082G>A (p.Gly2028Arg)
c.5446G>A (p.Gly1816Arg)
c.2236G>A (p.Gly746Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177293870G>CCA362323510NSD1c.5629G>C (p.Gly1877Arg)
c.1144G>C (p.Gly382Arg)
n.6085G>C
n.918G>C
c.6193G>C (p.Gly2065Arg)
n.5899G>C
c.6502G>C (p.Gly2168Arg)
c.5695G>C (p.Gly1899Arg)
c.1996G>C (p.Gly666Arg)
c.6082G>C (p.Gly2028Arg)
c.5446G>C (p.Gly1816Arg)
c.2236G>C (p.Gly746Arg)
5g.177293870G=CA1603535384NSD1c.5629G= (p.Gly1877=)
c.1144G= (p.Gly382=)
n.6085G=
n.918G=
c.6193G= (p.Gly2065=)
n.5899G=
c.6502G= (p.Gly2168=)
c.5695G= (p.Gly1899=)
c.1996G= (p.Gly666=)
c.6082G= (p.Gly2028=)
c.5446G= (p.Gly1816=)
c.2236G= (p.Gly746=)
5g.177293870G>TCA362323507NSD1c.5629G>T (p.Gly1877Trp)
c.1144G>T (p.Gly382Trp)
n.6085G>T
n.918G>T
c.6193G>T (p.Gly2065Trp)
n.5899G>T
c.6502G>T (p.Gly2168Trp)
c.5695G>T (p.Gly1899Trp)
c.1996G>T (p.Gly666Trp)
c.6082G>T (p.Gly2028Trp)
c.5446G>T (p.Gly1816Trp)
c.2236G>T (p.Gly746Trp)
5g.177293871G>ACA362323515NSD1c.5630G>A (p.Gly1877Glu)
c.1145G>A (p.Gly382Glu)
n.6086G>A
n.919G>A
c.6194G>A (p.Gly2065Glu)
n.5900G>A
c.6503G>A (p.Gly2168Glu)
c.5696G>A (p.Gly1899Glu)
c.1997G>A (p.Gly666Glu)
c.6083G>A (p.Gly2028Glu)
c.5447G>A (p.Gly1816Glu)
c.2237G>A (p.Gly746Glu)
 dbSNP
5g.177293871G>CCA362323518NSD1c.5630G>C (p.Gly1877Ala)
c.1145G>C (p.Gly382Ala)
n.6086G>C
n.919G>C
c.6194G>C (p.Gly2065Ala)
n.5900G>C
c.6503G>C (p.Gly2168Ala)
c.5696G>C (p.Gly1899Ala)
c.1997G>C (p.Gly666Ala)
c.6083G>C (p.Gly2028Ala)
c.5447G>C (p.Gly1816Ala)
c.2237G>C (p.Gly746Ala)
5g.177293871G>TCA362323521NSD1c.5630G>T (p.Gly1877Val)
c.1145G>T (p.Gly382Val)
n.6086G>T
n.919G>T
c.6194G>T (p.Gly2065Val)
n.5900G>T
c.6503G>T (p.Gly2168Val)
c.5696G>T (p.Gly1899Val)
c.1997G>T (p.Gly666Val)
c.6083G>T (p.Gly2028Val)
c.5447G>T (p.Gly1816Val)
c.2237G>T (p.Gly746Val)
5g.177293872G>ACA447961267NSD1c.5631G>A (p.Gly1877=)
c.1146G>A (p.Gly382=)
n.6087G>A
n.920G>A
c.6195G>A (p.Gly2065=)
n.5901G>A
c.6504G>A (p.Gly2168=)
c.5697G>A (p.Gly1899=)
c.1998G>A (p.Gly666=)
c.6084G>A (p.Gly2028=)
c.5448G>A (p.Gly1816=)
c.2238G>A (p.Gly746=)
 dbSNP
5g.177293872G>CCA447961265NSD1c.5631G>C (p.Gly1877=)
c.1146G>C (p.Gly382=)
n.6087G>C
n.920G>C
c.6195G>C (p.Gly2065=)
n.5901G>C
c.6504G>C (p.Gly2168=)
c.5697G>C (p.Gly1899=)
c.1998G>C (p.Gly666=)
c.6084G>C (p.Gly2028=)
c.5448G>C (p.Gly1816=)
c.2238G>C (p.Gly746=)
5g.177293872G>TCA447961266NSD1c.5631G>T (p.Gly1877=)
c.1146G>T (p.Gly382=)
n.6087G>T
n.920G>T
c.6195G>T (p.Gly2065=)
n.5901G>T
c.6504G>T (p.Gly2168=)
c.5697G>T (p.Gly1899=)
c.1998G>T (p.Gly666=)
c.6084G>T (p.Gly2028=)
c.5448G>T (p.Gly1816=)
c.2238G>T (p.Gly746=)
5g.177293872_177293880delCA2580074152NSD1c.5631_5639del (p.Lys1878_Ala1880del)
c.1146_1154del (p.Lys383_Ala385del)
n.6087_6095del
n.920_928del
c.6195_6203del (p.Lys2066_Ala2068del)
n.5901_5909del
c.6504_6512del (p.Lys2169_Ala2171del)
c.5697_5705del (p.Lys1900_Ala1902del)
c.1998_2006del (p.Lys667_Ala669del)
c.6084_6092del (p.Lys2029_Ala2031del)
c.5448_5456del (p.Lys1817_Ala1819del)
c.2238_2246del (p.Lys747_Ala749del)
 ClinVar
5g.177293873A>CCA362323526NSD1c.5632A>C (p.Lys1878Gln)
c.1147A>C (p.Lys383Gln)
n.6088A>C
n.921A>C
c.6196A>C (p.Lys2066Gln)
n.5902A>C
c.6505A>C (p.Lys2169Gln)
c.5698A>C (p.Lys1900Gln)
c.1999A>C (p.Lys667Gln)
c.6085A>C (p.Lys2029Gln)
c.5449A>C (p.Lys1817Gln)
c.2239A>C (p.Lys747Gln)
5g.177293873A>GCA362323535NSD1c.5632A>G (p.Lys1878Glu)
c.1147A>G (p.Lys383Glu)
n.6088A>G
n.921A>G
c.6196A>G (p.Lys2066Glu)
n.5902A>G
c.6505A>G (p.Lys2169Glu)
c.5698A>G (p.Lys1900Glu)
c.1999A>G (p.Lys667Glu)
c.6085A>G (p.Lys2029Glu)
c.5449A>G (p.Lys1817Glu)
c.2239A>G (p.Lys747Glu)
5g.177293873A>TCA362323542NSD1c.5632A>T (p.Lys1878Ter)
c.1147A>T (p.Lys383Ter)
n.6088A>T
n.921A>T
c.6196A>T (p.Lys2066Ter)
n.5902A>T
c.6505A>T (p.Lys2169Ter)
c.5698A>T (p.Lys1900Ter)
c.1999A>T (p.Lys667Ter)
c.6085A>T (p.Lys2029Ter)
c.5449A>T (p.Lys1817Ter)
c.2239A>T (p.Lys747Ter)
5g.177293874A>CCA362323551NSD1c.5633A>C (p.Lys1878Thr)
c.1148A>C (p.Lys383Thr)
n.6089A>C
n.922A>C
c.6197A>C (p.Lys2066Thr)
n.5903A>C
c.6506A>C (p.Lys2169Thr)
c.5699A>C (p.Lys1900Thr)
c.2000A>C (p.Lys667Thr)
c.6086A>C (p.Lys2029Thr)
c.5450A>C (p.Lys1817Thr)
c.2240A>C (p.Lys747Thr)
5g.177293874A>GCA362323547NSD1c.5633A>G (p.Lys1878Arg)
c.1148A>G (p.Lys383Arg)
n.6089A>G
n.922A>G
c.6197A>G (p.Lys2066Arg)
n.5903A>G
c.6506A>G (p.Lys2169Arg)
c.5699A>G (p.Lys1900Arg)
c.2000A>G (p.Lys667Arg)
c.6086A>G (p.Lys2029Arg)
c.5450A>G (p.Lys1817Arg)
c.2240A>G (p.Lys747Arg)
5g.177293874A>TCA362323549NSD1c.5633A>T (p.Lys1878Met)
c.1148A>T (p.Lys383Met)
n.6089A>T
n.922A>T
c.6197A>T (p.Lys2066Met)
n.5903A>T
c.6506A>T (p.Lys2169Met)
c.5699A>T (p.Lys1900Met)
c.2000A>T (p.Lys667Met)
c.6086A>T (p.Lys2029Met)
c.5450A>T (p.Lys1817Met)
c.2240A>T (p.Lys747Met)
5g.177293875G>ACA447961272NSD1c.5634G>A (p.Lys1878=)
c.1149G>A (p.Lys383=)
n.6090G>A
n.923G>A
c.6198G>A (p.Lys2066=)
n.5904G>A
c.6507G>A (p.Lys2169=)
c.5700G>A (p.Lys1900=)
c.2001G>A (p.Lys667=)
c.6087G>A (p.Lys2029=)
c.5451G>A (p.Lys1817=)
c.2241G>A (p.Lys747=)
5g.177293875G>CCA362323554NSD1c.5634G>C (p.Lys1878Asn)
c.1149G>C (p.Lys383Asn)
n.6090G>C
n.923G>C
c.6198G>C (p.Lys2066Asn)
n.5904G>C
c.6507G>C (p.Lys2169Asn)
c.5700G>C (p.Lys1900Asn)
c.2001G>C (p.Lys667Asn)
c.6087G>C (p.Lys2029Asn)
c.5451G>C (p.Lys1817Asn)
c.2241G>C (p.Lys747Asn)
5g.177293875G>TCA362323557NSD1c.5634G>T (p.Lys1878Asn)
c.1149G>T (p.Lys383Asn)
n.6090G>T
n.923G>T
c.6198G>T (p.Lys2066Asn)
n.5904G>T
c.6507G>T (p.Lys2169Asn)
c.5700G>T (p.Lys1900Asn)
c.2001G>T (p.Lys667Asn)
c.6087G>T (p.Lys2029Asn)
c.5451G>T (p.Lys1817Asn)
c.2241G>T (p.Lys747Asn)
5g.177293876G>ACA362323560NSD1c.5635G>A (p.Glu1879Lys)
c.1150G>A (p.Glu384Lys)
n.6091G>A
n.924G>A
c.6199G>A (p.Glu2067Lys)
n.5905G>A
c.6508G>A (p.Glu2170Lys)
c.5701G>A (p.Glu1901Lys)
c.2002G>A (p.Glu668Lys)
c.6088G>A (p.Glu2030Lys)
c.5452G>A (p.Glu1818Lys)
c.2242G>A (p.Glu748Lys)
5g.177293876G>CCA362323563NSD1c.5635G>C (p.Glu1879Gln)
c.1150G>C (p.Glu384Gln)
n.6091G>C
n.924G>C
c.6199G>C (p.Glu2067Gln)
n.5905G>C
c.6508G>C (p.Glu2170Gln)
c.5701G>C (p.Glu1901Gln)
c.2002G>C (p.Glu668Gln)
c.6088G>C (p.Glu2030Gln)
c.5452G>C (p.Glu1818Gln)
c.2242G>C (p.Glu748Gln)
5g.177293876G>TCA362323565NSD1c.5635G>T (p.Glu1879Ter)
c.1150G>T (p.Glu384Ter)
n.6091G>T
n.924G>T
c.6199G>T (p.Glu2067Ter)
n.5905G>T
c.6508G>T (p.Glu2170Ter)
c.5701G>T (p.Glu1901Ter)
c.2002G>T (p.Glu668Ter)
c.6088G>T (p.Glu2030Ter)
c.5452G>T (p.Glu1818Ter)
c.2242G>T (p.Glu748Ter)
5g.177293877A>CCA362323570NSD1c.5636A>C (p.Glu1879Ala)
c.1151A>C (p.Glu384Ala)
n.6092A>C
n.925A>C
c.6200A>C (p.Glu2067Ala)
n.5906A>C
c.6509A>C (p.Glu2170Ala)
c.5702A>C (p.Glu1901Ala)
c.2003A>C (p.Glu668Ala)
c.6089A>C (p.Glu2030Ala)
c.5453A>C (p.Glu1818Ala)
c.2243A>C (p.Glu748Ala)
5g.177293877A>GCA362323582NSD1c.5636A>G (p.Glu1879Gly)
c.1151A>G (p.Glu384Gly)
n.6092A>G
n.925A>G
c.6200A>G (p.Glu2067Gly)
n.5906A>G
c.6509A>G (p.Glu2170Gly)
c.5702A>G (p.Glu1901Gly)
c.2003A>G (p.Glu668Gly)
c.6089A>G (p.Glu2030Gly)
c.5453A>G (p.Glu1818Gly)
c.2243A>G (p.Glu748Gly)
5g.177293877A>TCA362323579NSD1c.5636A>T (p.Glu1879Val)
c.1151A>T (p.Glu384Val)
n.6092A>T
n.925A>T
c.6200A>T (p.Glu2067Val)
n.5906A>T
c.6509A>T (p.Glu2170Val)
c.5702A>T (p.Glu1901Val)
c.2003A>T (p.Glu668Val)
c.6089A>T (p.Glu2030Val)
c.5453A>T (p.Glu1818Val)
c.2243A>T (p.Glu748Val)
5g.177293878A>CCA362323586NSD1c.5637A>C (p.Glu1879Asp)
c.1152A>C (p.Glu384Asp)
n.6093A>C
n.926A>C
c.6201A>C (p.Glu2067Asp)
n.5907A>C
c.6510A>C (p.Glu2170Asp)
c.5703A>C (p.Glu1901Asp)
c.2004A>C (p.Glu668Asp)
c.6090A>C (p.Glu2030Asp)
c.5454A>C (p.Glu1818Asp)
c.2244A>C (p.Glu748Asp)
5g.177293878A>GCA447961276NSD1c.5637A>G (p.Glu1879=)
c.1152A>G (p.Glu384=)
n.6093A>G
n.926A>G
c.6201A>G (p.Glu2067=)
n.5907A>G
c.6510A>G (p.Glu2170=)
c.5703A>G (p.Glu1901=)
c.2004A>G (p.Glu668=)
c.6090A>G (p.Glu2030=)
c.5454A>G (p.Glu1818=)
c.2244A>G (p.Glu748=)
5g.177293878A>TCA362323588NSD1c.5637A>T (p.Glu1879Asp)
c.1152A>T (p.Glu384Asp)
n.6093A>T
n.926A>T
c.6201A>T (p.Glu2067Asp)
n.5907A>T
c.6510A>T (p.Glu2170Asp)
c.5703A>T (p.Glu1901Asp)
c.2004A>T (p.Glu668Asp)
c.6090A>T (p.Glu2030Asp)
c.5454A>T (p.Glu1818Asp)
c.2244A>T (p.Glu748Asp)
5g.177293879G>ACA362323593NSD1c.5638G>A (p.Ala1880Thr)
c.1153G>A (p.Ala385Thr)
n.6094G>A
n.927G>A
c.6202G>A (p.Ala2068Thr)
n.5908G>A
c.6511G>A (p.Ala2171Thr)
c.5704G>A (p.Ala1902Thr)
c.2005G>A (p.Ala669Thr)
c.6091G>A (p.Ala2031Thr)
c.5455G>A (p.Ala1819Thr)
c.2245G>A (p.Ala749Thr)
5g.177293879G>CCA362323596NSD1c.5638G>C (p.Ala1880Pro)
c.1153G>C (p.Ala385Pro)
n.6094G>C
n.927G>C
c.6202G>C (p.Ala2068Pro)
n.5908G>C
c.6511G>C (p.Ala2171Pro)
c.5704G>C (p.Ala1902Pro)
c.2005G>C (p.Ala669Pro)
c.6091G>C (p.Ala2031Pro)
c.5455G>C (p.Ala1819Pro)
c.2245G>C (p.Ala749Pro)
5g.177293879G>TCA362323599NSD1c.5638G>T (p.Ala1880Ser)
c.1153G>T (p.Ala385Ser)
n.6094G>T
n.927G>T
c.6202G>T (p.Ala2068Ser)
n.5908G>T
c.6511G>T (p.Ala2171Ser)
c.5704G>T (p.Ala1902Ser)
c.2005G>T (p.Ala669Ser)
c.6091G>T (p.Ala2031Ser)
c.5455G>T (p.Ala1819Ser)
c.2245G>T (p.Ala749Ser)
 gnomAD v4
5g.177293880C>ACA362323602NSD1c.5639C>A (p.Ala1880Glu)
c.1154C>A (p.Ala385Glu)
n.6095C>A
n.928C>A
c.6203C>A (p.Ala2068Glu)
n.5909C>A
c.6512C>A (p.Ala2171Glu)
c.5705C>A (p.Ala1902Glu)
c.2006C>A (p.Ala669Glu)
c.6092C>A (p.Ala2031Glu)
c.5456C>A (p.Ala1819Glu)
c.2246C>A (p.Ala749Glu)
5g.177293880C>GCA362323603NSD1c.5639C>G (p.Ala1880Gly)
c.1154C>G (p.Ala385Gly)
n.6095C>G
n.928C>G
c.6203C>G (p.Ala2068Gly)
n.5909C>G
c.6512C>G (p.Ala2171Gly)
c.5705C>G (p.Ala1902Gly)
c.2006C>G (p.Ala669Gly)
c.6092C>G (p.Ala2031Gly)
c.5456C>G (p.Ala1819Gly)
c.2246C>G (p.Ala749Gly)
5g.177293880C>TCA362323606NSD1c.5639C>T (p.Ala1880Val)
c.1154C>T (p.Ala385Val)
n.6095C>T
n.928C>T
c.6203C>T (p.Ala2068Val)
n.5909C>T
c.6512C>T (p.Ala2171Val)
c.5705C>T (p.Ala1902Val)
c.2006C>T (p.Ala669Val)
c.6092C>T (p.Ala2031Val)
c.5456C>T (p.Ala1819Val)
c.2246C>T (p.Ala749Val)
 dbSNP
5g.177293881A=CA1603535394NSD1c.5640A= (p.Ala1880=)
c.1155A= (p.Ala385=)
n.6096A=
n.929A=
c.6204A= (p.Ala2068=)
n.5910A=
c.6513A= (p.Ala2171=)
c.5706A= (p.Ala1902=)
c.2007A= (p.Ala669=)
c.6093A= (p.Ala2031=)
c.5457A= (p.Ala1819=)
c.2247A= (p.Ala749=)
5g.177293881A>CCA447961284NSD1c.5640A>C (p.Ala1880=)
c.1155A>C (p.Ala385=)
n.6096A>C
n.929A>C
c.6204A>C (p.Ala2068=)
n.5910A>C
c.6513A>C (p.Ala2171=)
c.5706A>C (p.Ala1902=)
c.2007A>C (p.Ala669=)
c.6093A>C (p.Ala2031=)
c.5457A>C (p.Ala1819=)
c.2247A>C (p.Ala749=)
 ClinVar dbSNP gnomAD v4
5g.177293881A>GCA447961285NSD1c.5640A>G (p.Ala1880=)
c.1155A>G (p.Ala385=)
n.6096A>G
n.929A>G
c.6204A>G (p.Ala2068=)
n.5910A>G
c.6513A>G (p.Ala2171=)
c.5706A>G (p.Ala1902=)
c.2007A>G (p.Ala669=)
c.6093A>G (p.Ala2031=)
c.5457A>G (p.Ala1819=)
c.2247A>G (p.Ala749=)
5g.177293881A>TCA447961286NSD1c.5640A>T (p.Ala1880=)
c.1155A>T (p.Ala385=)
n.6096A>T
n.929A>T
c.6204A>T (p.Ala2068=)
n.5910A>T
c.6513A>T (p.Ala2171=)
c.5706A>T (p.Ala1902=)
c.2007A>T (p.Ala669=)
c.6093A>T (p.Ala2031=)
c.5457A>T (p.Ala1819=)
c.2247A>T (p.Ala749=)
5g.177293882G>ACA362323609NSD1c.5641G>A (p.Ala1881Thr)
c.1156G>A (p.Ala386Thr)
n.6097G>A
n.930G>A
c.6205G>A (p.Ala2069Thr)
n.5911G>A
c.6514G>A (p.Ala2172Thr)
c.5707G>A (p.Ala1903Thr)
c.2008G>A (p.Ala670Thr)
c.6094G>A (p.Ala2032Thr)
c.5458G>A (p.Ala1820Thr)
c.2248G>A (p.Ala750Thr)
 dbSNP
5g.177293882G>CCA362323611NSD1c.5641G>C (p.Ala1881Pro)
c.1156G>C (p.Ala386Pro)
n.6097G>C
n.930G>C
c.6205G>C (p.Ala2069Pro)
n.5911G>C
c.6514G>C (p.Ala2172Pro)
c.5707G>C (p.Ala1903Pro)
c.2008G>C (p.Ala670Pro)
c.6094G>C (p.Ala2032Pro)
c.5458G>C (p.Ala1820Pro)
c.2248G>C (p.Ala750Pro)
5g.177293882G>TCA362323614NSD1c.5641G>T (p.Ala1881Ser)
c.1156G>T (p.Ala386Ser)
n.6097G>T
n.930G>T
c.6205G>T (p.Ala2069Ser)
n.5911G>T
c.6514G>T (p.Ala2172Ser)
c.5707G>T (p.Ala1903Ser)
c.2008G>T (p.Ala670Ser)
c.6094G>T (p.Ala2032Ser)
c.5458G>T (p.Ala1820Ser)
c.2248G>T (p.Ala750Ser)
5g.177293883C>ACA362323617NSD1c.5642C>A (p.Ala1881Asp)
c.1157C>A (p.Ala386Asp)
n.6098C>A
n.931C>A
c.6206C>A (p.Ala2069Asp)
n.5912C>A
c.6515C>A (p.Ala2172Asp)
c.5708C>A (p.Ala1903Asp)
c.2009C>A (p.Ala670Asp)
c.6095C>A (p.Ala2032Asp)
c.5459C>A (p.Ala1820Asp)
c.2249C>A (p.Ala750Asp)
5g.177293883C>GCA362323624NSD1c.5642C>G (p.Ala1881Gly)
c.1157C>G (p.Ala386Gly)
n.6098C>G
n.931C>G
c.6206C>G (p.Ala2069Gly)
n.5912C>G
c.6515C>G (p.Ala2172Gly)
c.5708C>G (p.Ala1903Gly)
c.2009C>G (p.Ala670Gly)
c.6095C>G (p.Ala2032Gly)
c.5459C>G (p.Ala1820Gly)
c.2249C>G (p.Ala750Gly)
5g.177293883C>TCA362323620NSD1c.5642C>T (p.Ala1881Val)
c.1157C>T (p.Ala386Val)
n.6098C>T
n.931C>T
c.6206C>T (p.Ala2069Val)
n.5912C>T
c.6515C>T (p.Ala2172Val)
c.5708C>T (p.Ala1903Val)
c.2009C>T (p.Ala670Val)
c.6095C>T (p.Ala2032Val)
c.5459C>T (p.Ala1820Val)
c.2249C>T (p.Ala750Val)
5g.177293884C>ACA447961292NSD1c.5643C>A (p.Ala1881=)
c.1158C>A (p.Ala386=)
n.6099C>A
n.932C>A
c.6207C>A (p.Ala2069=)
n.5913C>A
c.6516C>A (p.Ala2172=)
c.5709C>A (p.Ala1903=)
c.2010C>A (p.Ala670=)
c.6096C>A (p.Ala2032=)
c.5460C>A (p.Ala1820=)
c.2250C>A (p.Ala750=)
5g.177293884C>GCA447961294NSD1c.5643C>G (p.Ala1881=)
c.1158C>G (p.Ala386=)
n.6099C>G
n.932C>G
c.6207C>G (p.Ala2069=)
n.5913C>G
c.6516C>G (p.Ala2172=)
c.5709C>G (p.Ala1903=)
c.2010C>G (p.Ala670=)
c.6096C>G (p.Ala2032=)
c.5460C>G (p.Ala1820=)
c.2250C>G (p.Ala750=)
5g.177293884C>TCA447961293NSD1c.5643C>T (p.Ala1881=)
c.1158C>T (p.Ala386=)
n.6099C>T
n.932C>T
c.6207C>T (p.Ala2069=)
n.5913C>T
c.6516C>T (p.Ala2172=)
c.5709C>T (p.Ala1903=)
c.2010C>T (p.Ala670=)
c.6096C>T (p.Ala2032=)
c.5460C>T (p.Ala1820=)
c.2250C>T (p.Ala750=)
5g.177293885T>ACA362323627NSD1c.5644T>A (p.Ser1882Thr)
c.1159T>A (p.Ser387Thr)
n.6100T>A
n.933T>A
c.6208T>A (p.Ser2070Thr)
n.5914T>A
c.6517T>A (p.Ser2173Thr)
c.5710T>A (p.Ser1904Thr)
c.2011T>A (p.Ser671Thr)
c.6097T>A (p.Ser2033Thr)
c.5461T>A (p.Ser1821Thr)
c.2251T>A (p.Ser751Thr)
5g.177293885T>CCA362323633NSD1c.5644T>C (p.Ser1882Pro)
c.1159T>C (p.Ser387Pro)
n.6100T>C
n.933T>C
c.6208T>C (p.Ser2070Pro)
n.5914T>C
c.6517T>C (p.Ser2173Pro)
c.5710T>C (p.Ser1904Pro)
c.2011T>C (p.Ser671Pro)
c.6097T>C (p.Ser2033Pro)
c.5461T>C (p.Ser1821Pro)
c.2251T>C (p.Ser751Pro)
5g.177293885T>GCA362323630NSD1c.5644T>G (p.Ser1882Ala)
c.1159T>G (p.Ser387Ala)
n.6100T>G
n.933T>G
c.6208T>G (p.Ser2070Ala)
n.5914T>G
c.6517T>G (p.Ser2173Ala)
c.5710T>G (p.Ser1904Ala)
c.2011T>G (p.Ser671Ala)
c.6097T>G (p.Ser2033Ala)
c.5461T>G (p.Ser1821Ala)
c.2251T>G (p.Ser751Ala)
 gnomAD v4
5g.177293886C>ACA362323636NSD1c.5645C>A (p.Ser1882Tyr)
c.1160C>A (p.Ser387Tyr)
n.6101C>A
n.934C>A
c.6209C>A (p.Ser2070Tyr)
n.5915C>A
c.6518C>A (p.Ser2173Tyr)
c.5711C>A (p.Ser1904Tyr)
c.2012C>A (p.Ser671Tyr)
c.6098C>A (p.Ser2033Tyr)
c.5462C>A (p.Ser1821Tyr)
c.2252C>A (p.Ser751Tyr)
5g.177293886C>GCA362323638NSD1c.5645C>G (p.Ser1882Cys)
c.1160C>G (p.Ser387Cys)
n.6101C>G
n.934C>G
c.6209C>G (p.Ser2070Cys)
n.5915C>G
c.6518C>G (p.Ser2173Cys)
c.5711C>G (p.Ser1904Cys)
c.2012C>G (p.Ser671Cys)
c.6098C>G (p.Ser2033Cys)
c.5462C>G (p.Ser1821Cys)
c.2252C>G (p.Ser751Cys)
 dbSNP
5g.177293886C>TCA362323643NSD1c.5645C>T (p.Ser1882Phe)
c.1160C>T (p.Ser387Phe)
n.6101C>T
n.934C>T
c.6209C>T (p.Ser2070Phe)
n.5915C>T
c.6518C>T (p.Ser2173Phe)
c.5711C>T (p.Ser1904Phe)
c.2012C>T (p.Ser671Phe)
c.6098C>T (p.Ser2033Phe)
c.5462C>T (p.Ser1821Phe)
c.2252C>T (p.Ser751Phe)
5g.177293887dupCA2695205746NSD1c.5646dup (p.Phe1883LeufsTer3)
c.1161dup (p.Phe388LeufsTer3)
n.6102dup
n.935dup
c.6210dup (p.Phe2071LeufsTer3)
n.5916dup
c.6519dup (p.Phe2174LeufsTer3)
c.5712dup (p.Phe1905LeufsTer3)
c.2013dup (p.Phe672LeufsTer3)
c.6099dup (p.Phe2034LeufsTer3)
c.5463dup (p.Phe1822LeufsTer3)
c.2253dup (p.Phe752LeufsTer3)
5g.177293886_177293889delinsCCTTCA1603535401NSD1c.5645_5648delinsCCTT (p.Ser1882=)
c.1160_1163delinsCCTT (p.Ser387=)
n.6101_6104delinsCCTT
n.934_937delinsCCTT
c.6209_6212delinsCCTT (p.Ser2070=)
n.5915_5918delinsCCTT
c.6518_6521delinsCCTT (p.Ser2173=)
c.5711_5714delinsCCTT (p.Ser1904=)
c.2012_2015delinsCCTT (p.Ser671=)
c.6098_6101delinsCCTT (p.Ser2033=)
c.5462_5465delinsCCTT (p.Ser1821=)
c.2252_2255delinsCCTT (p.Ser751=)
5g.177293887C>ACA447961297NSD1c.5646C>A (p.Ser1882=)
c.1161C>A (p.Ser387=)
n.6102C>A
n.935C>A
c.6210C>A (p.Ser2070=)
n.5916C>A
c.6519C>A (p.Ser2173=)
c.5712C>A (p.Ser1904=)
c.2013C>A (p.Ser671=)
c.6099C>A (p.Ser2033=)
c.5463C>A (p.Ser1821=)
c.2253C>A (p.Ser751=)
5g.177293887C>GCA447961299NSD1c.5646C>G (p.Ser1882=)
c.1161C>G (p.Ser387=)
n.6102C>G
n.935C>G
c.6210C>G (p.Ser2070=)
n.5916C>G
c.6519C>G (p.Ser2173=)
c.5712C>G (p.Ser1904=)
c.2013C>G (p.Ser671=)
c.6099C>G (p.Ser2033=)
c.5463C>G (p.Ser1821=)
c.2253C>G (p.Ser751=)
5g.177293887C>TCA447961301NSD1c.5646C>T (p.Ser1882=)
c.1161C>T (p.Ser387=)
n.6102C>T
n.935C>T
c.6210C>T (p.Ser2070=)
n.5916C>T
c.6519C>T (p.Ser2173=)
c.5712C>T (p.Ser1904=)
c.2013C>T (p.Ser671=)
c.6099C>T (p.Ser2033=)
c.5463C>T (p.Ser1821=)
c.2253C>T (p.Ser751=)
5g.177293889_177293891delCA295095NSD1c.5648_5650del (p.Phe1883del)
c.1163_1165del (p.Phe388del)
n.6104_6106del
n.937_939del
c.6212_6214del (p.Phe2071del)
n.5918_5920del
c.6521_6523del (p.Phe2174del)
c.5714_5716del (p.Phe1905del)
c.2015_2017del (p.Phe672del)
c.6101_6103del (p.Phe2034del)
c.5465_5467del (p.Phe1822del)
c.2255_2257del (p.Phe752del)
 ClinVar dbSNP
5g.177293888T>ACA362323649NSD1c.5647T>A (p.Phe1883Ile)
c.1162T>A (p.Phe388Ile)
n.6103T>A
n.936T>A
c.6211T>A (p.Phe2071Ile)
n.5917T>A
c.6520T>A (p.Phe2174Ile)
c.5713T>A (p.Phe1905Ile)
c.2014T>A (p.Phe672Ile)
c.6100T>A (p.Phe2034Ile)
c.5464T>A (p.Phe1822Ile)
c.2254T>A (p.Phe752Ile)
5g.177293888T>CCA362323652NSD1c.5647T>C (p.Phe1883Leu)
c.1162T>C (p.Phe388Leu)
n.6103T>C
n.936T>C
c.6211T>C (p.Phe2071Leu)
n.5917T>C
c.6520T>C (p.Phe2174Leu)
c.5713T>C (p.Phe1905Leu)
c.2014T>C (p.Phe672Leu)
c.6100T>C (p.Phe2034Leu)
c.5464T>C (p.Phe1822Leu)
c.2254T>C (p.Phe752Leu)
5g.177293888T>GCA362323655NSD1c.5647T>G (p.Phe1883Val)
c.1162T>G (p.Phe388Val)
n.6103T>G
n.936T>G
c.6211T>G (p.Phe2071Val)
n.5917T>G
c.6520T>G (p.Phe2174Val)
c.5713T>G (p.Phe1905Val)
c.2014T>G (p.Phe672Val)
c.6100T>G (p.Phe2034Val)
c.5464T>G (p.Phe1822Val)
c.2254T>G (p.Phe752Val)
5g.177293889T>ACA362323661NSD1c.5648T>A (p.Phe1883Tyr)
c.1163T>A (p.Phe388Tyr)
n.6104T>A
n.937T>A
c.6212T>A (p.Phe2071Tyr)
n.5918T>A
c.6521T>A (p.Phe2174Tyr)
c.5714T>A (p.Phe1905Tyr)
c.2015T>A (p.Phe672Tyr)
c.6101T>A (p.Phe2034Tyr)
c.5465T>A (p.Phe1822Tyr)
c.2255T>A (p.Phe752Tyr)
5g.177293889T>CCA362323663NSD1c.5648T>C (p.Phe1883Ser)
c.1163T>C (p.Phe388Ser)
n.6104T>C
n.937T>C
c.6212T>C (p.Phe2071Ser)
n.5918T>C
c.6521T>C (p.Phe2174Ser)
c.5714T>C (p.Phe1905Ser)
c.2015T>C (p.Phe672Ser)
c.6101T>C (p.Phe2034Ser)
c.5465T>C (p.Phe1822Ser)
c.2255T>C (p.Phe752Ser)
 dbSNP gnomAD v4
5g.177293889T>GCA362323666NSD1c.5648T>G (p.Phe1883Cys)
c.1163T>G (p.Phe388Cys)
n.6104T>G
n.937T>G
c.6212T>G (p.Phe2071Cys)
n.5918T>G
c.6521T>G (p.Phe2174Cys)
c.5714T>G (p.Phe1905Cys)
c.2015T>G (p.Phe672Cys)
c.6101T>G (p.Phe2034Cys)
c.5465T>G (p.Phe1822Cys)
c.2255T>G (p.Phe752Cys)
5g.177293889T=CA1603535412NSD1c.5648T= (p.Phe1883=)
c.1163T= (p.Phe388=)
n.6104T=
n.937T=
c.6212T= (p.Phe2071=)
n.5918T=
c.6521T= (p.Phe2174=)
c.5714T= (p.Phe1905=)
c.2015T= (p.Phe672=)
c.6101T= (p.Phe2034=)
c.5465T= (p.Phe1822=)
c.2255T= (p.Phe752=)
5g.177293890C>ACA362323670NSD1c.5649C>A (p.Phe1883Leu)
c.1164C>A (p.Phe388Leu)
n.6105C>A
n.938C>A
c.6213C>A (p.Phe2071Leu)
n.5919C>A
c.6522C>A (p.Phe2174Leu)
c.5715C>A (p.Phe1905Leu)
c.2016C>A (p.Phe672Leu)
c.6102C>A (p.Phe2034Leu)
c.5466C>A (p.Phe1822Leu)
c.2256C>A (p.Phe752Leu)
5g.177293890C=CA1603535417NSD1c.5649C= (p.Phe1883=)
c.1164C= (p.Phe388=)
n.6105C=
n.938C=
c.6213C= (p.Phe2071=)
n.5919C=
c.6522C= (p.Phe2174=)
c.5715C= (p.Phe1905=)
c.2016C= (p.Phe672=)
c.6102C= (p.Phe2034=)
c.5466C= (p.Phe1822=)
c.2256C= (p.Phe752=)
5g.177293890C>GCA362323676NSD1c.5649C>G (p.Phe1883Leu)
c.1164C>G (p.Phe388Leu)
n.6105C>G
n.938C>G
c.6213C>G (p.Phe2071Leu)
n.5919C>G
c.6522C>G (p.Phe2174Leu)
c.5715C>G (p.Phe1905Leu)
c.2016C>G (p.Phe672Leu)
c.6102C>G (p.Phe2034Leu)
c.5466C>G (p.Phe1822Leu)
c.2256C>G (p.Phe752Leu)
5g.177293890C>TCA132862419NSD1c.5649C>T (p.Phe1883=)
c.1164C>T (p.Phe388=)
n.6105C>T
n.938C>T
c.6213C>T (p.Phe2071=)
n.5919C>T
c.6522C>T (p.Phe2174=)
c.5715C>T (p.Phe1905=)
c.2016C>T (p.Phe672=)
c.6102C>T (p.Phe2034=)
c.5466C>T (p.Phe1822=)
c.2256C>T (p.Phe752=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177293891T>ACA362323679NSD1c.5650T>A (p.Cys1884Ser)
c.1165T>A (p.Cys389Ser)
n.6106T>A
n.939T>A
c.6214T>A (p.Cys2072Ser)
n.5920T>A
c.6523T>A (p.Cys2175Ser)
c.5716T>A (p.Cys1906Ser)
c.2017T>A (p.Cys673Ser)
c.6103T>A (p.Cys2035Ser)
c.5467T>A (p.Cys1823Ser)
c.2257T>A (p.Cys753Ser)
5g.177293891T>CCA362323686NSD1c.5650T>C (p.Cys1884Arg)
c.1165T>C (p.Cys389Arg)
n.6106T>C
n.939T>C
c.6214T>C (p.Cys2072Arg)
n.5920T>C
c.6523T>C (p.Cys2175Arg)
c.5716T>C (p.Cys1906Arg)
c.2017T>C (p.Cys673Arg)
c.6103T>C (p.Cys2035Arg)
c.5467T>C (p.Cys1823Arg)
c.2257T>C (p.Cys753Arg)
5g.177293891T>GCA362323684NSD1c.5650T>G (p.Cys1884Gly)
c.1165T>G (p.Cys389Gly)
n.6106T>G
n.939T>G
c.6214T>G (p.Cys2072Gly)
n.5920T>G
c.6523T>G (p.Cys2175Gly)
c.5716T>G (p.Cys1906Gly)
c.2017T>G (p.Cys673Gly)
c.6103T>G (p.Cys2035Gly)
c.5467T>G (p.Cys1823Gly)
c.2257T>G (p.Cys753Gly)
5g.177293892G>ACA362323691NSD1c.5651G>A (p.Cys1884Tyr)
c.1166G>A (p.Cys389Tyr)
n.6107G>A
n.940G>A
c.6215G>A (p.Cys2072Tyr)
n.5921G>A
c.6524G>A (p.Cys2175Tyr)
c.5717G>A (p.Cys1906Tyr)
c.2018G>A (p.Cys673Tyr)
c.6104G>A (p.Cys2035Tyr)
c.5468G>A (p.Cys1823Tyr)
c.2258G>A (p.Cys753Tyr)
 ClinVar dbSNP
5g.177293892G>CCA362323692NSD1c.5651G>C (p.Cys1884Ser)
c.1166G>C (p.Cys389Ser)
n.6107G>C
n.940G>C
c.6215G>C (p.Cys2072Ser)
n.5921G>C
c.6524G>C (p.Cys2175Ser)
c.5717G>C (p.Cys1906Ser)
c.2018G>C (p.Cys673Ser)
c.6104G>C (p.Cys2035Ser)
c.5468G>C (p.Cys1823Ser)
c.2258G>C (p.Cys753Ser)
5g.177293892G=CA1603535422NSD1c.5651G= (p.Cys1884=)
c.1166G= (p.Cys389=)
n.6107G=
n.940G=
c.6215G= (p.Cys2072=)
n.5921G=
c.6524G= (p.Cys2175=)
c.5717G= (p.Cys1906=)
c.2018G= (p.Cys673=)
c.6104G= (p.Cys2035=)
c.5468G= (p.Cys1823=)
c.2258G= (p.Cys753=)
5g.177293892G>TCA362323695NSD1c.5651G>T (p.Cys1884Phe)
c.1166G>T (p.Cys389Phe)
n.6107G>T
n.940G>T
c.6215G>T (p.Cys2072Phe)
n.5921G>T
c.6524G>T (p.Cys2175Phe)
c.5717G>T (p.Cys1906Phe)
c.2018G>T (p.Cys673Phe)
c.6104G>T (p.Cys2035Phe)
c.5468G>T (p.Cys1823Phe)
c.2258G>T (p.Cys753Phe)
 ClinVar dbSNP
5g.177293893T>ACA362323697NSD1c.5652T>A (p.Cys1884Ter)
c.1167T>A (p.Cys389Ter)
n.6108T>A
n.941T>A
c.6216T>A (p.Cys2072Ter)
n.5922T>A
c.6525T>A (p.Cys2175Ter)
c.5718T>A (p.Cys1906Ter)
c.2019T>A (p.Cys673Ter)
c.6105T>A (p.Cys2035Ter)
c.5469T>A (p.Cys1823Ter)
c.2259T>A (p.Cys753Ter)
5g.177293893T>CCA447961307NSD1c.5652T>C (p.Cys1884=)
c.1167T>C (p.Cys389=)
n.6108T>C
n.941T>C
c.6216T>C (p.Cys2072=)
n.5922T>C
c.6525T>C (p.Cys2175=)
c.5718T>C (p.Cys1906=)
c.2019T>C (p.Cys673=)
c.6105T>C (p.Cys2035=)
c.5469T>C (p.Cys1823=)
c.2259T>C (p.Cys753=)
5g.177293893T>GCA362323700NSD1c.5652T>G (p.Cys1884Trp)
c.1167T>G (p.Cys389Trp)
n.6108T>G
n.941T>G
c.6216T>G (p.Cys2072Trp)
n.5922T>G
c.6525T>G (p.Cys2175Trp)
c.5718T>G (p.Cys1906Trp)
c.2019T>G (p.Cys673Trp)
c.6105T>G (p.Cys2035Trp)
c.5469T>G (p.Cys1823Trp)
c.2259T>G (p.Cys753Trp)
 gnomAD v4
5g.177293894G>ACA362323706NSD1c.5653G>A (p.Glu1885Lys)
c.1168G>A (p.Glu390Lys)
n.6109G>A
n.942G>A
c.6217G>A (p.Glu2073Lys)
n.5923G>A
c.6526G>A (p.Glu2176Lys)
c.5719G>A (p.Glu1907Lys)
c.2020G>A (p.Glu674Lys)
c.6106G>A (p.Glu2036Lys)
c.5470G>A (p.Glu1824Lys)
c.2260G>A (p.Glu754Lys)
5g.177293894G>CCA362323708NSD1c.5653G>C (p.Glu1885Gln)
c.1168G>C (p.Glu390Gln)
n.6109G>C
n.942G>C
c.6217G>C (p.Glu2073Gln)
n.5923G>C
c.6526G>C (p.Glu2176Gln)
c.5719G>C (p.Glu1907Gln)
c.2020G>C (p.Glu674Gln)
c.6106G>C (p.Glu2036Gln)
c.5470G>C (p.Glu1824Gln)
c.2260G>C (p.Glu754Gln)
5g.177293894G>TCA362323711NSD1c.5653G>T (p.Glu1885Ter)
c.1168G>T (p.Glu390Ter)
n.6109G>T
n.942G>T
c.6217G>T (p.Glu2073Ter)
n.5923G>T
c.6526G>T (p.Glu2176Ter)
c.5719G>T (p.Glu1907Ter)
c.2020G>T (p.Glu674Ter)
c.6106G>T (p.Glu2036Ter)
c.5470G>T (p.Glu1824Ter)
c.2260G>T (p.Glu754Ter)
5g.177293895A>CCA362323715NSD1c.5654A>C (p.Glu1885Ala)
c.1169A>C (p.Glu390Ala)
n.6110A>C
n.943A>C
c.6218A>C (p.Glu2073Ala)
n.5924A>C
c.6527A>C (p.Glu2176Ala)
c.5720A>C (p.Glu1907Ala)
c.2021A>C (p.Glu674Ala)
c.6107A>C (p.Glu2036Ala)
c.5471A>C (p.Glu1824Ala)
c.2261A>C (p.Glu754Ala)
5g.177293895A>GCA362323717NSD1c.5654A>G (p.Glu1885Gly)
c.1169A>G (p.Glu390Gly)
n.6110A>G
n.943A>G
c.6218A>G (p.Glu2073Gly)
n.5924A>G
c.6527A>G (p.Glu2176Gly)
c.5720A>G (p.Glu1907Gly)
c.2021A>G (p.Glu674Gly)
c.6107A>G (p.Glu2036Gly)
c.5471A>G (p.Glu1824Gly)
c.2261A>G (p.Glu754Gly)
 dbSNP
5g.177293895A>TCA362323720NSD1c.5654A>T (p.Glu1885Val)
c.1169A>T (p.Glu390Val)
n.6110A>T
n.943A>T
c.6218A>T (p.Glu2073Val)
n.5924A>T
c.6527A>T (p.Glu2176Val)
c.5720A>T (p.Glu1907Val)
c.2021A>T (p.Glu674Val)
c.6107A>T (p.Glu2036Val)
c.5471A>T (p.Glu1824Val)
c.2261A>T (p.Glu754Val)
5g.177293896G>ACA447961309NSD1c.5655G>A (p.Glu1885=)
c.1170G>A (p.Glu390=)
n.6111G>A
n.944G>A
c.6219G>A (p.Glu2073=)
n.5925G>A
c.6528G>A (p.Glu2176=)
c.5721G>A (p.Glu1907=)
c.2022G>A (p.Glu674=)
c.6108G>A (p.Glu2036=)
c.5472G>A (p.Glu1824=)
c.2262G>A (p.Glu754=)
 gnomAD v4
5g.177293896G>CCA362323722NSD1c.5655G>C (p.Glu1885Asp)
c.1170G>C (p.Glu390Asp)
n.6111G>C
n.944G>C
c.6219G>C (p.Glu2073Asp)
n.5925G>C
c.6528G>C (p.Glu2176Asp)
c.5721G>C (p.Glu1907Asp)
c.2022G>C (p.Glu674Asp)
c.6108G>C (p.Glu2036Asp)
c.5472G>C (p.Glu1824Asp)
c.2262G>C (p.Glu754Asp)
5g.177293896G>TCA362323725NSD1c.5655G>T (p.Glu1885Asp)
c.1170G>T (p.Glu390Asp)
n.6111G>T
n.944G>T
c.6219G>T (p.Glu2073Asp)
n.5925G>T
c.6528G>T (p.Glu2176Asp)
c.5721G>T (p.Glu1907Asp)
c.2022G>T (p.Glu674Asp)
c.6108G>T (p.Glu2036Asp)
c.5472G>T (p.Glu1824Asp)
c.2262G>T (p.Glu754Asp)
5g.177293897A>CCA362323729NSD1c.5656A>C (p.Met1886Leu)
c.1171A>C (p.Met391Leu)
n.6112A>C
n.945A>C
c.6220A>C (p.Met2074Leu)
n.5926A>C
c.6529A>C (p.Met2177Leu)
c.5722A>C (p.Met1908Leu)
c.2023A>C (p.Met675Leu)
c.6109A>C (p.Met2037Leu)
c.5473A>C (p.Met1825Leu)
c.2263A>C (p.Met755Leu)
5g.177293897A>GCA362323731NSD1c.5656A>G (p.Met1886Val)
c.1171A>G (p.Met391Val)
n.6112A>G
n.945A>G
c.6220A>G (p.Met2074Val)
n.5926A>G
c.6529A>G (p.Met2177Val)
c.5722A>G (p.Met1908Val)
c.2023A>G (p.Met675Val)
c.6109A>G (p.Met2037Val)
c.5473A>G (p.Met1825Val)
c.2263A>G (p.Met755Val)
5g.177293897A>TCA362323734NSD1c.5656A>T (p.Met1886Leu)
c.1171A>T (p.Met391Leu)
n.6112A>T
n.945A>T
c.6220A>T (p.Met2074Leu)
n.5926A>T
c.6529A>T (p.Met2177Leu)
c.5722A>T (p.Met1908Leu)
c.2023A>T (p.Met675Leu)
c.6109A>T (p.Met2037Leu)
c.5473A>T (p.Met1825Leu)
c.2263A>T (p.Met755Leu)
 gnomAD v4
5g.177293898T>ACA362323739NSD1c.5657T>A (p.Met1886Lys)
c.1172T>A (p.Met391Lys)
n.6113T>A
n.946T>A
c.6221T>A (p.Met2074Lys)
n.5927T>A
c.6530T>A (p.Met2177Lys)
c.5723T>A (p.Met1908Lys)
c.2024T>A (p.Met675Lys)
c.6110T>A (p.Met2037Lys)
c.5474T>A (p.Met1825Lys)
c.2264T>A (p.Met755Lys)
5g.177293898T>CCA362323741NSD1c.5657T>C (p.Met1886Thr)
c.1172T>C (p.Met391Thr)
n.6113T>C
n.946T>C
c.6221T>C (p.Met2074Thr)
n.5927T>C
c.6530T>C (p.Met2177Thr)
c.5723T>C (p.Met1908Thr)
c.2024T>C (p.Met675Thr)
c.6110T>C (p.Met2037Thr)
c.5474T>C (p.Met1825Thr)
c.2264T>C (p.Met755Thr)
5g.177293898T>GCA362323744NSD1c.5657T>G (p.Met1886Arg)
c.1172T>G (p.Met391Arg)
n.6113T>G
n.946T>G
c.6221T>G (p.Met2074Arg)
n.5927T>G
c.6530T>G (p.Met2177Arg)
c.5723T>G (p.Met1908Arg)
c.2024T>G (p.Met675Arg)
c.6110T>G (p.Met2037Arg)
c.5474T>G (p.Met1825Arg)
c.2264T>G (p.Met755Arg)
5g.177293899G>ACA362323748NSD1c.5658G>A (p.Met1886Ile)
c.1173G>A (p.Met391Ile)
n.6114G>A
n.947G>A
c.6222G>A (p.Met2074Ile)
n.5928G>A
c.6531G>A (p.Met2177Ile)
c.5724G>A (p.Met1908Ile)
c.2025G>A (p.Met675Ile)
c.6111G>A (p.Met2037Ile)
c.5475G>A (p.Met1825Ile)
c.2265G>A (p.Met755Ile)
5g.177293899G>CCA362323751NSD1c.5658G>C (p.Met1886Ile)
c.1173G>C (p.Met391Ile)
n.6114G>C
n.947G>C
c.6222G>C (p.Met2074Ile)
n.5928G>C
c.6531G>C (p.Met2177Ile)
c.5724G>C (p.Met1908Ile)
c.2025G>C (p.Met675Ile)
c.6111G>C (p.Met2037Ile)
c.5475G>C (p.Met1825Ile)
c.2265G>C (p.Met755Ile)
5g.177293899G>TCA362323753NSD1c.5658G>T (p.Met1886Ile)
c.1173G>T (p.Met391Ile)
n.6114G>T
n.947G>T
c.6222G>T (p.Met2074Ile)
n.5928G>T
c.6531G>T (p.Met2177Ile)
c.5724G>T (p.Met1908Ile)
c.2025G>T (p.Met675Ile)
c.6111G>T (p.Met2037Ile)
c.5475G>T (p.Met1825Ile)
c.2265G>T (p.Met755Ile)
5g.177293900T>ACA362323757NSD1c.5659T>A (p.Cys1887Ser)
c.1174T>A (p.Cys392Ser)
n.6115T>A
n.948T>A
c.6223T>A (p.Cys2075Ser)
n.5929T>A
c.6532T>A (p.Cys2178Ser)
c.5725T>A (p.Cys1909Ser)
c.2026T>A (p.Cys676Ser)
c.6112T>A (p.Cys2038Ser)
c.5476T>A (p.Cys1826Ser)
c.2266T>A (p.Cys756Ser)
5g.177293900T>CCA362323759NSD1c.5659T>C (p.Cys1887Arg)
c.1174T>C (p.Cys392Arg)
n.6115T>C
n.948T>C
c.6223T>C (p.Cys2075Arg)
n.5929T>C
c.6532T>C (p.Cys2178Arg)
c.5725T>C (p.Cys1909Arg)
c.2026T>C (p.Cys676Arg)
c.6112T>C (p.Cys2038Arg)
c.5476T>C (p.Cys1826Arg)
c.2266T>C (p.Cys756Arg)
 ClinVar dbSNP
5g.177293900T>GCA362323762NSD1c.5659T>G (p.Cys1887Gly)
c.1174T>G (p.Cys392Gly)
n.6115T>G
n.948T>G
c.6223T>G (p.Cys2075Gly)
n.5929T>G
c.6532T>G (p.Cys2178Gly)
c.5725T>G (p.Cys1909Gly)
c.2026T>G (p.Cys676Gly)
c.6112T>G (p.Cys2038Gly)
c.5476T>G (p.Cys1826Gly)
c.2266T>G (p.Cys756Gly)
 dbSNP
5g.177293901_177293909delCA2695205749NSD1c.5660_5668del (p.Cys1887_Ser1889del)
c.1175_1183del (p.Cys392_Ser394del)
n.6116_6124del
n.949_957del
c.6224_6232del (p.Cys2075_Ser2077del)
n.5930_5938del
c.6533_6541del (p.Cys2178_Ser2180del)
c.5726_5734del (p.Cys1909_Ser1911del)
c.2027_2035del (p.Cys676_Ser678del)
c.6113_6121del (p.Cys2038_Ser2040del)
c.5477_5485del (p.Cys1826_Ser1828del)
c.2267_2275del (p.Cys756_Ser758del)
5g.177293901G>ACA223696NSD1c.5660G>A (p.Cys1887Tyr)
c.1175G>A (p.Cys392Tyr)
n.6116G>A
n.949G>A
c.6224G>A (p.Cys2075Tyr)
n.5930G>A
c.6533G>A (p.Cys2178Tyr)
c.5726G>A (p.Cys1909Tyr)
c.2027G>A (p.Cys676Tyr)
c.6113G>A (p.Cys2038Tyr)
c.5477G>A (p.Cys1826Tyr)
c.2267G>A (p.Cys756Tyr)
 ClinVar dbSNP
5g.177293901G>CCA362323766NSD1c.5660G>C (p.Cys1887Ser)
c.1175G>C (p.Cys392Ser)
n.6116G>C
n.949G>C
c.6224G>C (p.Cys2075Ser)
n.5930G>C
c.6533G>C (p.Cys2178Ser)
c.5726G>C (p.Cys1909Ser)
c.2027G>C (p.Cys676Ser)
c.6113G>C (p.Cys2038Ser)
c.5477G>C (p.Cys1826Ser)
c.2267G>C (p.Cys756Ser)
5g.177293901G=CA1603535427NSD1c.5660G= (p.Cys1887=)
c.1175G= (p.Cys392=)
n.6116G=
n.949G=
c.6224G= (p.Cys2075=)
n.5930G=
c.6533G= (p.Cys2178=)
c.5726G= (p.Cys1909=)
c.2027G= (p.Cys676=)
c.6113G= (p.Cys2038=)
c.5477G= (p.Cys1826=)
c.2267G= (p.Cys756=)
5g.177293901G>TCA362323764NSD1c.5660G>T (p.Cys1887Phe)
c.1175G>T (p.Cys392Phe)
n.6116G>T
n.949G>T
c.6224G>T (p.Cys2075Phe)
n.5930G>T
c.6533G>T (p.Cys2178Phe)
c.5726G>T (p.Cys1909Phe)
c.2027G>T (p.Cys676Phe)
c.6113G>T (p.Cys2038Phe)
c.5477G>T (p.Cys1826Phe)
c.2267G>T (p.Cys756Phe)
 ClinVar dbSNP
5g.177293902C>ACA362323779NSD1c.5661C>A (p.Cys1887Ter)
c.1176C>A (p.Cys392Ter)
n.6117C>A
n.950C>A
c.6225C>A (p.Cys2075Ter)
n.5931C>A
c.6534C>A (p.Cys2178Ter)
c.5727C>A (p.Cys1909Ter)
c.2028C>A (p.Cys676Ter)
c.6114C>A (p.Cys2038Ter)
c.5478C>A (p.Cys1826Ter)
c.2268C>A (p.Cys756Ter)
5g.177293902C>GCA362323781NSD1c.5661C>G (p.Cys1887Trp)
c.1176C>G (p.Cys392Trp)
n.6117C>G
n.950C>G
c.6225C>G (p.Cys2075Trp)
n.5931C>G
c.6534C>G (p.Cys2178Trp)
c.5727C>G (p.Cys1909Trp)
c.2028C>G (p.Cys676Trp)
c.6114C>G (p.Cys2038Trp)
c.5478C>G (p.Cys1826Trp)
c.2268C>G (p.Cys756Trp)
5g.177293902C>TCA447961328NSD1c.5661C>T (p.Cys1887=)
c.1176C>T (p.Cys392=)
n.6117C>T
n.950C>T
c.6225C>T (p.Cys2075=)
n.5931C>T
c.6534C>T (p.Cys2178=)
c.5727C>T (p.Cys1909=)
c.2028C>T (p.Cys676=)
c.6114C>T (p.Cys2038=)
c.5478C>T (p.Cys1826=)
c.2268C>T (p.Cys756=)
 dbSNP gnomAD v4
5g.177293905dupCA10584082NSD1c.5664dup (p.Ser1889GlnfsTer5)
c.1179dup (p.Ser394GlnfsTer5)
n.6120dup
n.953dup
c.6228dup (p.Ser2077GlnfsTer5)
n.5934dup
c.6537dup (p.Ser2180GlnfsTer5)
c.5730dup (p.Ser1911GlnfsTer5)
c.2031dup (p.Ser678GlnfsTer5)
c.6117dup (p.Ser2040GlnfsTer5)
c.5481dup (p.Ser1828GlnfsTer5)
c.2271dup (p.Ser758GlnfsTer5)
 ClinVar dbSNP
5g.177293903C>ACA362323786NSD1c.5662C>A (p.Pro1888Thr)
c.1177C>A (p.Pro393Thr)
n.6118C>A
n.951C>A
c.6226C>A (p.Pro2076Thr)
n.5932C>A
c.6535C>A (p.Pro2179Thr)
c.5728C>A (p.Pro1910Thr)
c.2029C>A (p.Pro677Thr)
c.6115C>A (p.Pro2039Thr)
c.5479C>A (p.Pro1827Thr)
c.2269C>A (p.Pro757Thr)
5g.177293903C>GCA362323788NSD1c.5662C>G (p.Pro1888Ala)
c.1177C>G (p.Pro393Ala)
n.6118C>G
n.951C>G
c.6226C>G (p.Pro2076Ala)
n.5932C>G
c.6535C>G (p.Pro2179Ala)
c.5728C>G (p.Pro1910Ala)
c.2029C>G (p.Pro677Ala)
c.6115C>G (p.Pro2039Ala)
c.5479C>G (p.Pro1827Ala)
c.2269C>G (p.Pro757Ala)
5g.177293903C>TCA362323790NSD1c.5662C>T (p.Pro1888Ser)
c.1177C>T (p.Pro393Ser)
n.6118C>T
n.951C>T
c.6226C>T (p.Pro2076Ser)
n.5932C>T
c.6535C>T (p.Pro2179Ser)
c.5728C>T (p.Pro1910Ser)
c.2029C>T (p.Pro677Ser)
c.6115C>T (p.Pro2039Ser)
c.5479C>T (p.Pro1827Ser)
c.2269C>T (p.Pro757Ser)
5g.177293904C>ACA362323795NSD1c.5663C>A (p.Pro1888His)
c.1178C>A (p.Pro393His)
n.6119C>A
n.952C>A
c.6227C>A (p.Pro2076His)
n.5933C>A
c.6536C>A (p.Pro2179His)
c.5729C>A (p.Pro1910His)
c.2030C>A (p.Pro677His)
c.6116C>A (p.Pro2039His)
c.5480C>A (p.Pro1827His)
c.2270C>A (p.Pro757His)
5g.177293904C>GCA362323800NSD1c.5663C>G (p.Pro1888Arg)
c.1178C>G (p.Pro393Arg)
n.6119C>G
n.952C>G
c.6227C>G (p.Pro2076Arg)
n.5933C>G
c.6536C>G (p.Pro2179Arg)
c.5729C>G (p.Pro1910Arg)
c.2030C>G (p.Pro677Arg)
c.6116C>G (p.Pro2039Arg)
c.5480C>G (p.Pro1827Arg)
c.2270C>G (p.Pro757Arg)
5g.177293904C>TCA362323803NSD1c.5663C>T (p.Pro1888Leu)
c.1178C>T (p.Pro393Leu)
n.6119C>T
n.952C>T
c.6227C>T (p.Pro2076Leu)
n.5933C>T
c.6536C>T (p.Pro2179Leu)
c.5729C>T (p.Pro1910Leu)
c.2030C>T (p.Pro677Leu)
c.6116C>T (p.Pro2039Leu)
c.5480C>T (p.Pro1827Leu)
c.2270C>T (p.Pro757Leu)
5g.177293904_177293923delinsCCAGCTCCTTTTGTAAGCAGCA1603535436NSD1c.5663_5682delinsCCAGCTCCTTTTGTAAGCAG (p.Pro1888=)
c.1178_1197delinsCCAGCTCCTTTTGTAAGCAG (p.Pro393=)
n.6119_6138delinsCCAGCTCCTTTTGTAAGCAG
n.952_971delinsCCAGCTCCTTTTGTAAGCAG
c.6227_6246delinsCCAGCTCCTTTTGTAAGCAG (p.Pro2076=)
n.5933_5952delinsCCAGCTCCTTTTGTAAGCAG
c.6536_6555delinsCCAGCTCCTTTTGTAAGCAG (p.Pro2179=)
c.5729_5748delinsCCAGCTCCTTTTGTAAGCAG (p.Pro1910=)
c.2030_2049delinsCCAGCTCCTTTTGTAAGCAG (p.Pro677=)
c.6116_6135delinsCCAGCTCCTTTTGTAAGCAG (p.Pro2039=)
c.5480_5499delinsCCAGCTCCTTTTGTAAGCAG (p.Pro1827=)
c.2270_2289delinsCCAGCTCCTTTTGTAAGCAG (p.Pro757=)
5g.177293905C>ACA447961331NSD1c.5664C>A (p.Pro1888=)
c.1179C>A (p.Pro393=)
n.6120C>A
n.953C>A
c.6228C>A (p.Pro2076=)
n.5934C>A
c.6537C>A (p.Pro2179=)
c.5730C>A (p.Pro1910=)
c.2031C>A (p.Pro677=)
c.6117C>A (p.Pro2039=)
c.5481C>A (p.Pro1827=)
c.2271C>A (p.Pro757=)
5g.177293905C>GCA447961332NSD1c.5664C>G (p.Pro1888=)
c.1179C>G (p.Pro393=)
n.6120C>G
n.953C>G
c.6228C>G (p.Pro2076=)
n.5934C>G
c.6537C>G (p.Pro2179=)
c.5730C>G (p.Pro1910=)
c.2031C>G (p.Pro677=)
c.6117C>G (p.Pro2039=)
c.5481C>G (p.Pro1827=)
c.2271C>G (p.Pro757=)
5g.177293905C>TCA447961334NSD1c.5664C>T (p.Pro1888=)
c.1179C>T (p.Pro393=)
n.6120C>T
n.953C>T
c.6228C>T (p.Pro2076=)
n.5934C>T
c.6537C>T (p.Pro2179=)
c.5730C>T (p.Pro1910=)
c.2031C>T (p.Pro677=)
c.6117C>T (p.Pro2039=)
c.5481C>T (p.Pro1827=)
c.2271C>T (p.Pro757=)
 gnomAD v4
5g.177293907_177293925delCA295098NSD1c.5666_5684del (p.Ser1889IlefsTer?)
c.1181_1199del (p.Ser394IlefsTer?)
n.6122_6140del
n.955_973del
c.6230_6248del (p.Ser2077IlefsTer?)
n.5936_5954del
c.6539_6557del (p.Ser2180IlefsTer?)
c.5732_5750del (p.Ser1911IlefsTer?)
c.2033_2051del (p.Ser678IlefsTer?)
c.6119_6137del (p.Ser2040IlefsTer?)
c.5483_5501del (p.Ser1828IlefsTer?)
c.2273_2291del (p.Ser758IlefsTer?)
 ClinVar dbSNP
5g.177293906A=CA1603535442NSD1c.5665A= (p.Ser1889=)
c.1180A= (p.Ser394=)
n.6121A=
n.954A=
c.6229A= (p.Ser2077=)
n.5935A=
c.6538A= (p.Ser2180=)
c.5731A= (p.Ser1911=)
c.2032A= (p.Ser678=)
c.6118A= (p.Ser2040=)
c.5482A= (p.Ser1828=)
c.2272A= (p.Ser758=)
5g.177293906A>CCA362323809NSD1c.5665A>C (p.Ser1889Arg)
c.1180A>C (p.Ser394Arg)
n.6121A>C
n.954A>C
c.6229A>C (p.Ser2077Arg)
n.5935A>C
c.6538A>C (p.Ser2180Arg)
c.5731A>C (p.Ser1911Arg)
c.2032A>C (p.Ser678Arg)
c.6118A>C (p.Ser2040Arg)
c.5482A>C (p.Ser1828Arg)
c.2272A>C (p.Ser758Arg)
5g.177293906A>GCA3578020NSD1c.5665A>G (p.Ser1889Gly)
c.1180A>G (p.Ser394Gly)
n.6121A>G
n.954A>G
c.6229A>G (p.Ser2077Gly)
n.5935A>G
c.6538A>G (p.Ser2180Gly)
c.5731A>G (p.Ser1911Gly)
c.2032A>G (p.Ser678Gly)
c.6118A>G (p.Ser2040Gly)
c.5482A>G (p.Ser1828Gly)
c.2272A>G (p.Ser758Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177293906A>TCA362323812NSD1c.5665A>T (p.Ser1889Cys)
c.1180A>T (p.Ser394Cys)
n.6121A>T
n.954A>T
c.6229A>T (p.Ser2077Cys)
n.5935A>T
c.6538A>T (p.Ser2180Cys)
c.5731A>T (p.Ser1911Cys)
c.2032A>T (p.Ser678Cys)
c.6118A>T (p.Ser2040Cys)
c.5482A>T (p.Ser1828Cys)
c.2272A>T (p.Ser758Cys)
5g.177293906_177293907insCCA223699NSD1c.5665_5666insC (p.Ser1889ThrfsTer5)
c.1180_1181insC (p.Ser394ThrfsTer5)
n.6121_6122insC
n.954_955insC
c.6229_6230insC (p.Ser2077ThrfsTer5)
n.5935_5936insC
c.6538_6539insC (p.Ser2180ThrfsTer5)
c.5731_5732insC (p.Ser1911ThrfsTer5)
c.2032_2033insC (p.Ser678ThrfsTer5)
c.6118_6119insC (p.Ser2040ThrfsTer5)
c.5482_5483insC (p.Ser1828ThrfsTer5)
c.2272_2273insC (p.Ser758ThrfsTer5)
 ClinVar dbSNP
5g.177293907G>ACA362323818NSD1c.5666G>A (p.Ser1889Asn)
c.1181G>A (p.Ser394Asn)
n.6122G>A
n.955G>A
c.6230G>A (p.Ser2077Asn)
n.5936G>A
c.6539G>A (p.Ser2180Asn)
c.5732G>A (p.Ser1911Asn)
c.2033G>A (p.Ser678Asn)
c.6119G>A (p.Ser2040Asn)
c.5483G>A (p.Ser1828Asn)
c.2273G>A (p.Ser758Asn)
 dbSNP
5g.177293907G>CCA362323821NSD1c.5666G>C (p.Ser1889Thr)
c.1181G>C (p.Ser394Thr)
n.6122G>C
n.955G>C
c.6230G>C (p.Ser2077Thr)
n.5936G>C
c.6539G>C (p.Ser2180Thr)
c.5732G>C (p.Ser1911Thr)
c.2033G>C (p.Ser678Thr)
c.6119G>C (p.Ser2040Thr)
c.5483G>C (p.Ser1828Thr)
c.2273G>C (p.Ser758Thr)
 gnomAD v4
5g.177293907G=CA1603535447NSD1c.5666G= (p.Ser1889=)
c.1181G= (p.Ser394=)
n.6122G=
n.955G=
c.6230G= (p.Ser2077=)
n.5936G=
c.6539G= (p.Ser2180=)
c.5732G= (p.Ser1911=)
c.2033G= (p.Ser678=)
c.6119G= (p.Ser2040=)
c.5483G= (p.Ser1828=)
c.2273G= (p.Ser758=)
5g.177293907G>TCA362323814NSD1c.5666G>T (p.Ser1889Ile)
c.1181G>T (p.Ser394Ile)
n.6122G>T
n.955G>T
c.6230G>T (p.Ser2077Ile)
n.5936G>T
c.6539G>T (p.Ser2180Ile)
c.5732G>T (p.Ser1911Ile)
c.2033G>T (p.Ser678Ile)
c.6119G>T (p.Ser2040Ile)
c.5483G>T (p.Ser1828Ile)
c.2273G>T (p.Ser758Ile)
5g.177293908C>ACA362323826NSD1c.5667C>A (p.Ser1889Arg)
c.1182C>A (p.Ser394Arg)
n.6123C>A
n.956C>A
c.6231C>A (p.Ser2077Arg)
n.5937C>A
c.6540C>A (p.Ser2180Arg)
c.5733C>A (p.Ser1911Arg)
c.2034C>A (p.Ser678Arg)
c.6120C>A (p.Ser2040Arg)
c.5484C>A (p.Ser1828Arg)
c.2274C>A (p.Ser758Arg)
5g.177293908C>GCA362323824NSD1c.5667C>G (p.Ser1889Arg)
c.1182C>G (p.Ser394Arg)
n.6123C>G
n.956C>G
c.6231C>G (p.Ser2077Arg)
n.5937C>G
c.6540C>G (p.Ser2180Arg)
c.5733C>G (p.Ser1911Arg)
c.2034C>G (p.Ser678Arg)
c.6120C>G (p.Ser2040Arg)
c.5484C>G (p.Ser1828Arg)
c.2274C>G (p.Ser758Arg)
5g.177293908C>TCA447961344NSD1c.5667C>T (p.Ser1889=)
c.1182C>T (p.Ser394=)
n.6123C>T
n.956C>T
c.6231C>T (p.Ser2077=)
n.5937C>T
c.6540C>T (p.Ser2180=)
c.5733C>T (p.Ser1911=)
c.2034C>T (p.Ser678=)
c.6120C>T (p.Ser2040=)
c.5484C>T (p.Ser1828=)
c.2274C>T (p.Ser758=)
 dbSNP
5g.177293910_177293912dupCA319710NSD1c.5669_5671dup (p.Ser1890_Phe1891insSer)
c.1184_1186dup (p.Ser395_Phe396insSer)
n.6125_6127dup
n.958_960dup
c.6233_6235dup (p.Ser2078_Phe2079insSer)
n.5939_5941dup
c.6542_6544dup (p.Ser2181_Phe2182insSer)
c.5735_5737dup (p.Ser1912_Phe1913insSer)
c.2036_2038dup (p.Ser679_Phe680insSer)
c.6122_6124dup (p.Ser2041_Phe2042insSer)
c.5486_5488dup (p.Ser1829_Phe1830insSer)
c.2276_2278dup (p.Ser759_Phe760insSer)
 ClinVar dbSNP
5g.177293909T>ACA362323835NSD1c.5668T>A (p.Ser1890Thr)
c.1183T>A (p.Ser395Thr)
n.6124T>A
n.957T>A
c.6232T>A (p.Ser2078Thr)
n.5938T>A
c.6541T>A (p.Ser2181Thr)
c.5734T>A (p.Ser1912Thr)
c.2035T>A (p.Ser679Thr)
c.6121T>A (p.Ser2041Thr)
c.5485T>A (p.Ser1829Thr)
c.2275T>A (p.Ser759Thr)
 gnomAD v4
5g.177293909T>CCA362323838NSD1c.5668T>C (p.Ser1890Pro)
c.1183T>C (p.Ser395Pro)
n.6124T>C
n.957T>C
c.6232T>C (p.Ser2078Pro)
n.5938T>C
c.6541T>C (p.Ser2181Pro)
c.5734T>C (p.Ser1912Pro)
c.2035T>C (p.Ser679Pro)
c.6121T>C (p.Ser2041Pro)
c.5485T>C (p.Ser1829Pro)
c.2275T>C (p.Ser759Pro)
5g.177293909T>GCA362323833NSD1c.5668T>G (p.Ser1890Ala)
c.1183T>G (p.Ser395Ala)
n.6124T>G
n.957T>G
c.6232T>G (p.Ser2078Ala)
n.5938T>G
c.6541T>G (p.Ser2181Ala)
c.5734T>G (p.Ser1912Ala)
c.2035T>G (p.Ser679Ala)
c.6121T>G (p.Ser2041Ala)
c.5485T>G (p.Ser1829Ala)
c.2275T>G (p.Ser759Ala)
5g.177293909_177293910delinsTCCA1603535460NSD1c.5668_5669delinsTC (p.Ser1890=)
c.1183_1184delinsTC (p.Ser395=)
n.6124_6125delinsTC
n.957_958delinsTC
c.6232_6233delinsTC (p.Ser2078=)
n.5938_5939delinsTC
c.6541_6542delinsTC (p.Ser2181=)
c.5734_5735delinsTC (p.Ser1912=)
c.2035_2036delinsTC (p.Ser679=)
c.6121_6122delinsTC (p.Ser2041=)
c.5485_5486delinsTC (p.Ser1829=)
c.2275_2276delinsTC (p.Ser759=)
5g.177293910C>ACA362323841NSD1c.5669C>A (p.Ser1890Tyr)
c.1184C>A (p.Ser395Tyr)
n.6125C>A
n.958C>A
c.6233C>A (p.Ser2078Tyr)
n.5939C>A
c.6542C>A (p.Ser2181Tyr)
c.5735C>A (p.Ser1912Tyr)
c.2036C>A (p.Ser679Tyr)
c.6122C>A (p.Ser2041Tyr)
c.5486C>A (p.Ser1829Tyr)
c.2276C>A (p.Ser759Tyr)
 ClinVar
5g.177293910C>GCA362323843NSD1c.5669C>G (p.Ser1890Cys)
c.1184C>G (p.Ser395Cys)
n.6125C>G
n.958C>G
c.6233C>G (p.Ser2078Cys)
n.5939C>G
c.6542C>G (p.Ser2181Cys)
c.5735C>G (p.Ser1912Cys)
c.2036C>G (p.Ser679Cys)
c.6122C>G (p.Ser2041Cys)
c.5486C>G (p.Ser1829Cys)
c.2276C>G (p.Ser759Cys)
 gnomAD v4
5g.177293910C>TCA362323846NSD1c.5669C>T (p.Ser1890Phe)
c.1184C>T (p.Ser395Phe)
n.6125C>T
n.958C>T
c.6233C>T (p.Ser2078Phe)
n.5939C>T
c.6542C>T (p.Ser2181Phe)
c.5735C>T (p.Ser1912Phe)
c.2036C>T (p.Ser679Phe)
c.6122C>T (p.Ser2041Phe)
c.5486C>T (p.Ser1829Phe)
c.2276C>T (p.Ser759Phe)
 ClinVar dbSNP COSMIC COSMIC
5g.177293911delCA916081473NSD1c.5670del (p.Cys1892ValfsTer?)
c.1185del (p.Cys397ValfsTer?)
n.6126del
n.959del
c.6234del (p.Cys2080ValfsTer?)
n.5940del
c.6543del (p.Cys2183ValfsTer?)
c.5736del (p.Cys1914ValfsTer?)
c.2037del (p.Cys681ValfsTer?)
c.6123del (p.Cys2043ValfsTer?)
c.5487del (p.Cys1831ValfsTer?)
c.2277del (p.Cys761ValfsTer?)
 ClinVar dbSNP
5g.177293911C>ACA447961348NSD1c.5670C>A (p.Ser1890=)
c.1185C>A (p.Ser395=)
n.6126C>A
n.959C>A
c.6234C>A (p.Ser2078=)
n.5940C>A
c.6543C>A (p.Ser2181=)
c.5736C>A (p.Ser1912=)
c.2037C>A (p.Ser679=)
c.6123C>A (p.Ser2041=)
c.5487C>A (p.Ser1829=)
c.2277C>A (p.Ser759=)
5g.177293911C>GCA447961350NSD1c.5670C>G (p.Ser1890=)
c.1185C>G (p.Ser395=)
n.6126C>G
n.959C>G
c.6234C>G (p.Ser2078=)
n.5940C>G
c.6543C>G (p.Ser2181=)
c.5736C>G (p.Ser1912=)
c.2037C>G (p.Ser679=)
c.6123C>G (p.Ser2041=)
c.5487C>G (p.Ser1829=)
c.2277C>G (p.Ser759=)
5g.177293911C>TCA447961351NSD1c.5670C>T (p.Ser1890=)
c.1185C>T (p.Ser395=)
n.6126C>T
n.959C>T
c.6234C>T (p.Ser2078=)
n.5940C>T
c.6543C>T (p.Ser2181=)
c.5736C>T (p.Ser1912=)
c.2037C>T (p.Ser679=)
c.6123C>T (p.Ser2041=)
c.5487C>T (p.Ser1829=)
c.2277C>T (p.Ser759=)
5g.177293912T>ACA362323851NSD1c.5671T>A (p.Phe1891Ile)
c.1186T>A (p.Phe396Ile)
n.6127T>A
n.960T>A
c.6235T>A (p.Phe2079Ile)
n.5941T>A
c.6544T>A (p.Phe2182Ile)
c.5737T>A (p.Phe1913Ile)
c.2038T>A (p.Phe680Ile)
c.6124T>A (p.Phe2042Ile)
c.5488T>A (p.Phe1830Ile)
c.2278T>A (p.Phe760Ile)
5g.177293912T>CCA362323853NSD1c.5671T>C (p.Phe1891Leu)
c.1186T>C (p.Phe396Leu)
n.6127T>C
n.960T>C
c.6235T>C (p.Phe2079Leu)
n.5941T>C
c.6544T>C (p.Phe2182Leu)
c.5737T>C (p.Phe1913Leu)
c.2038T>C (p.Phe680Leu)
c.6124T>C (p.Phe2042Leu)
c.5488T>C (p.Phe1830Leu)
c.2278T>C (p.Phe760Leu)
5g.177293912T>GCA362323858NSD1c.5671T>G (p.Phe1891Val)
c.1186T>G (p.Phe396Val)
n.6127T>G
n.960T>G
c.6235T>G (p.Phe2079Val)
n.5941T>G
c.6544T>G (p.Phe2182Val)
c.5737T>G (p.Phe1913Val)
c.2038T>G (p.Phe680Val)
c.6124T>G (p.Phe2042Val)
c.5488T>G (p.Phe1830Val)
c.2278T>G (p.Phe760Val)
5g.177293915delCA2711004485NSD1c.5674del (p.Cys1892ValfsTer?)
c.1189del (p.Cys397ValfsTer?)
n.6130del
n.963del
c.6238del (p.Cys2080ValfsTer?)
n.5944del
c.6547del (p.Cys2183ValfsTer?)
c.5740del (p.Cys1914ValfsTer?)
c.2041del (p.Cys681ValfsTer?)
c.6127del (p.Cys2043ValfsTer?)
c.5491del (p.Cys1831ValfsTer?)
c.2281del (p.Cys761ValfsTer?)
 dbSNP
5g.177293913T>ACA362323860NSD1c.5672T>A (p.Phe1891Tyr)
c.1187T>A (p.Phe396Tyr)
n.6128T>A
n.961T>A
c.6236T>A (p.Phe2079Tyr)
n.5942T>A
c.6545T>A (p.Phe2182Tyr)
c.5738T>A (p.Phe1913Tyr)
c.2039T>A (p.Phe680Tyr)
c.6125T>A (p.Phe2042Tyr)
c.5489T>A (p.Phe1830Tyr)
c.2279T>A (p.Phe760Tyr)
5g.177293913T>CCA362323862NSD1c.5672T>C (p.Phe1891Ser)
c.1187T>C (p.Phe396Ser)
n.6128T>C
n.961T>C
c.6236T>C (p.Phe2079Ser)
n.5942T>C
c.6545T>C (p.Phe2182Ser)
c.5738T>C (p.Phe1913Ser)
c.2039T>C (p.Phe680Ser)
c.6125T>C (p.Phe2042Ser)
c.5489T>C (p.Phe1830Ser)
c.2279T>C (p.Phe760Ser)
5g.177293913T>GCA362323867NSD1c.5672T>G (p.Phe1891Cys)
c.1187T>G (p.Phe396Cys)
n.6128T>G
n.961T>G
c.6236T>G (p.Phe2079Cys)
n.5942T>G
c.6545T>G (p.Phe2182Cys)
c.5738T>G (p.Phe1913Cys)
c.2039T>G (p.Phe680Cys)
c.6125T>G (p.Phe2042Cys)
c.5489T>G (p.Phe1830Cys)
c.2279T>G (p.Phe760Cys)
5g.177293914T>ACA362323873NSD1c.5673T>A (p.Phe1891Leu)
c.1188T>A (p.Phe396Leu)
n.6129T>A
n.962T>A
c.6237T>A (p.Phe2079Leu)
n.5943T>A
c.6546T>A (p.Phe2182Leu)
c.5739T>A (p.Phe1913Leu)
c.2040T>A (p.Phe680Leu)
c.6126T>A (p.Phe2042Leu)
c.5490T>A (p.Phe1830Leu)
c.2280T>A (p.Phe760Leu)
5g.177293914T>CCA447961356NSD1c.5673T>C (p.Phe1891=)
c.1188T>C (p.Phe396=)
n.6129T>C
n.962T>C
c.6237T>C (p.Phe2079=)
n.5943T>C
c.6546T>C (p.Phe2182=)
c.5739T>C (p.Phe1913=)
c.2040T>C (p.Phe680=)
c.6126T>C (p.Phe2042=)
c.5490T>C (p.Phe1830=)
c.2280T>C (p.Phe760=)
5g.177293914T>GCA362323870NSD1c.5673T>G (p.Phe1891Leu)
c.1188T>G (p.Phe396Leu)
n.6129T>G
n.962T>G
c.6237T>G (p.Phe2079Leu)
n.5943T>G
c.6546T>G (p.Phe2182Leu)
c.5739T>G (p.Phe1913Leu)
c.2040T>G (p.Phe680Leu)
c.6126T>G (p.Phe2042Leu)
c.5490T>G (p.Phe1830Leu)
c.2280T>G (p.Phe760Leu)
5g.177293915T>ACA362323877NSD1c.5674T>A (p.Cys1892Ser)
c.1189T>A (p.Cys397Ser)
n.6130T>A
n.963T>A
c.6238T>A (p.Cys2080Ser)
n.5944T>A
c.6547T>A (p.Cys2183Ser)
c.5740T>A (p.Cys1914Ser)
c.2041T>A (p.Cys681Ser)
c.6127T>A (p.Cys2043Ser)
c.5491T>A (p.Cys1831Ser)
c.2281T>A (p.Cys761Ser)
 ClinVar
5g.177293915T>CCA362323879NSD1c.5674T>C (p.Cys1892Arg)
c.1189T>C (p.Cys397Arg)
n.6130T>C
n.963T>C
c.6238T>C (p.Cys2080Arg)
n.5944T>C
c.6547T>C (p.Cys2183Arg)
c.5740T>C (p.Cys1914Arg)
c.2041T>C (p.Cys681Arg)
c.6127T>C (p.Cys2043Arg)
c.5491T>C (p.Cys1831Arg)
c.2281T>C (p.Cys761Arg)
5g.177293915T>GCA362323882NSD1c.5674T>G (p.Cys1892Gly)
c.1189T>G (p.Cys397Gly)
n.6130T>G
n.963T>G
c.6238T>G (p.Cys2080Gly)
n.5944T>G
c.6547T>G (p.Cys2183Gly)
c.5740T>G (p.Cys1914Gly)
c.2041T>G (p.Cys681Gly)
c.6127T>G (p.Cys2043Gly)
c.5491T>G (p.Cys1831Gly)
c.2281T>G (p.Cys761Gly)
 ClinVar dbSNP
5g.177293915T=CA1603535467NSD1c.5674T= (p.Cys1892=)
c.1189T= (p.Cys397=)
n.6130T=
n.963T=
c.6238T= (p.Cys2080=)
n.5944T=
c.6547T= (p.Cys2183=)
c.5740T= (p.Cys1914=)
c.2041T= (p.Cys681=)
c.6127T= (p.Cys2043=)
c.5491T= (p.Cys1831=)
c.2281T= (p.Cys761=)

Number of alleles fetched