Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177293959T>ACA362324192NSD1c.5718T>A (p.Asp1906Glu)
c.1233T>A (p.Asp411Glu)
n.6174T>A
n.1007T>A
c.6282T>A (p.Asp2094Glu)
n.5988T>A
c.6591T>A (p.Asp2197Glu)
c.5784T>A (p.Asp1928Glu)
c.2085T>A (p.Asp695Glu)
c.6171T>A (p.Asp2057Glu)
c.5535T>A (p.Asp1845Glu)
c.2325T>A (p.Asp775Glu)
5g.177293959T>CCA447961447NSD1c.5718T>C (p.Asp1906=)
c.1233T>C (p.Asp411=)
n.6174T>C
n.1007T>C
c.6282T>C (p.Asp2094=)
n.5988T>C
c.6591T>C (p.Asp2197=)
c.5784T>C (p.Asp1928=)
c.2085T>C (p.Asp695=)
c.6171T>C (p.Asp2057=)
c.5535T>C (p.Asp1845=)
c.2325T>C (p.Asp775=)
 dbSNP
5g.177293959T>GCA362324190NSD1c.5718T>G (p.Asp1906Glu)
c.1233T>G (p.Asp411Glu)
n.6174T>G
n.1007T>G
c.6282T>G (p.Asp2094Glu)
n.5988T>G
c.6591T>G (p.Asp2197Glu)
c.5784T>G (p.Asp1928Glu)
c.2085T>G (p.Asp695Glu)
c.6171T>G (p.Asp2057Glu)
c.5535T>G (p.Asp1845Glu)
c.2325T>G (p.Asp775Glu)
5g.177293960G>ACA362324195NSD1c.5719G>A (p.Gly1907Arg)
c.1234G>A (p.Gly412Arg)
n.6175G>A
n.1008G>A
c.6283G>A (p.Gly2095Arg)
n.5989G>A
c.6592G>A (p.Gly2198Arg)
c.5785G>A (p.Gly1929Arg)
c.2086G>A (p.Gly696Arg)
c.6172G>A (p.Gly2058Arg)
c.5536G>A (p.Gly1846Arg)
c.2326G>A (p.Gly776Arg)
5g.177293960G>CCA362324197NSD1c.5719G>C (p.Gly1907Arg)
c.1234G>C (p.Gly412Arg)
n.6175G>C
n.1008G>C
c.6283G>C (p.Gly2095Arg)
n.5989G>C
c.6592G>C (p.Gly2198Arg)
c.5785G>C (p.Gly1929Arg)
c.2086G>C (p.Gly696Arg)
c.6172G>C (p.Gly2058Arg)
c.5536G>C (p.Gly1846Arg)
c.2326G>C (p.Gly776Arg)
5g.177293960G>TCA362324208NSD1c.5719G>T (p.Gly1907Trp)
c.1234G>T (p.Gly412Trp)
n.6175G>T
n.1008G>T
c.6283G>T (p.Gly2095Trp)
n.5989G>T
c.6592G>T (p.Gly2198Trp)
c.5785G>T (p.Gly1929Trp)
c.2086G>T (p.Gly696Trp)
c.6172G>T (p.Gly2058Trp)
c.5536G>T (p.Gly1846Trp)
c.2326G>T (p.Gly776Trp)
5g.177293961G>ACA362324211NSD1c.5720G>A (p.Gly1907Glu)
c.1235G>A (p.Gly412Glu)
n.6176G>A
n.1009G>A
c.6284G>A (p.Gly2095Glu)
n.5990G>A
c.6593G>A (p.Gly2198Glu)
c.5786G>A (p.Gly1929Glu)
c.2087G>A (p.Gly696Glu)
c.6173G>A (p.Gly2058Glu)
c.5537G>A (p.Gly1846Glu)
c.2327G>A (p.Gly776Glu)
5g.177293961G>CCA362324213NSD1c.5720G>C (p.Gly1907Ala)
c.1235G>C (p.Gly412Ala)
n.6176G>C
n.1009G>C
c.6284G>C (p.Gly2095Ala)
n.5990G>C
c.6593G>C (p.Gly2198Ala)
c.5786G>C (p.Gly1929Ala)
c.2087G>C (p.Gly696Ala)
c.6173G>C (p.Gly2058Ala)
c.5537G>C (p.Gly1846Ala)
c.2327G>C (p.Gly776Ala)
5g.177293961G>TCA362324216NSD1c.5720G>T (p.Gly1907Val)
c.1235G>T (p.Gly412Val)
n.6176G>T
n.1009G>T
c.6284G>T (p.Gly2095Val)
n.5990G>T
c.6593G>T (p.Gly2198Val)
c.5786G>T (p.Gly1929Val)
c.2087G>T (p.Gly696Val)
c.6173G>T (p.Gly2058Val)
c.5537G>T (p.Gly1846Val)
c.2327G>T (p.Gly776Val)
5g.177293962G>ACA447961456NSD1c.5721G>A (p.Gly1907=)
c.1236G>A (p.Gly412=)
n.6177G>A
n.1010G>A
c.6285G>A (p.Gly2095=)
n.5991G>A
c.6594G>A (p.Gly2198=)
c.5787G>A (p.Gly1929=)
c.2088G>A (p.Gly696=)
c.6174G>A (p.Gly2058=)
c.5538G>A (p.Gly1846=)
c.2328G>A (p.Gly776=)
5g.177293962G>CCA447961458NSD1c.5721G>C (p.Gly1907=)
c.1236G>C (p.Gly412=)
n.6177G>C
n.1010G>C
c.6285G>C (p.Gly2095=)
n.5991G>C
c.6594G>C (p.Gly2198=)
c.5787G>C (p.Gly1929=)
c.2088G>C (p.Gly696=)
c.6174G>C (p.Gly2058=)
c.5538G>C (p.Gly1846=)
c.2328G>C (p.Gly776=)
5g.177293962G>TCA447961457NSD1c.5721G>T (p.Gly1907=)
c.1236G>T (p.Gly412=)
n.6177G>T
n.1010G>T
c.6285G>T (p.Gly2095=)
n.5991G>T
c.6594G>T (p.Gly2198=)
c.5787G>T (p.Gly1929=)
c.2088G>T (p.Gly696=)
c.6174G>T (p.Gly2058=)
c.5538G>T (p.Gly1846=)
c.2328G>T (p.Gly776=)
 gnomAD v4
5g.177293963C>ACA362324223NSD1c.5722C>A (p.Arg1908Ser)
c.1237C>A (p.Arg413Ser)
n.6178C>A
n.1011C>A
c.6286C>A (p.Arg2096Ser)
n.5992C>A
c.6595C>A (p.Arg2199Ser)
c.5788C>A (p.Arg1930Ser)
c.2089C>A (p.Arg697Ser)
c.6175C>A (p.Arg2059Ser)
c.5539C>A (p.Arg1847Ser)
c.2329C>A (p.Arg777Ser)
5g.177293963C=CA1603535525NSD1c.5722C= (p.Arg1908=)
c.1237C= (p.Arg413=)
n.6178C=
n.1011C=
c.6286C= (p.Arg2096=)
n.5992C=
c.6595C= (p.Arg2199=)
c.5788C= (p.Arg1930=)
c.2089C= (p.Arg697=)
c.6175C= (p.Arg2059=)
c.5539C= (p.Arg1847=)
c.2329C= (p.Arg777=)
5g.177293963C>GCA362324219NSD1c.5722C>G (p.Arg1908Gly)
c.1237C>G (p.Arg413Gly)
n.6178C>G
n.1011C>G
c.6286C>G (p.Arg2096Gly)
n.5992C>G
c.6595C>G (p.Arg2199Gly)
c.5788C>G (p.Arg1930Gly)
c.2089C>G (p.Arg697Gly)
c.6175C>G (p.Arg2059Gly)
c.5539C>G (p.Arg1847Gly)
c.2329C>G (p.Arg777Gly)
5g.177293963C>TCA362324221NSD1c.5722C>T (p.Arg1908Cys)
c.1237C>T (p.Arg413Cys)
n.6178C>T
n.1011C>T
c.6286C>T (p.Arg2096Cys)
n.5992C>T
c.6595C>T (p.Arg2199Cys)
c.5788C>T (p.Arg1930Cys)
c.2089C>T (p.Arg697Cys)
c.6175C>T (p.Arg2059Cys)
c.5539C>T (p.Arg1847Cys)
c.2329C>T (p.Arg777Cys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177293964delCA2695205753NSD1c.5723del (p.Arg1908LeufsTer?)
c.1238del (p.Arg413LeufsTer?)
n.6179del
n.1012del
c.6287del (p.Arg2096LeufsTer?)
n.5993del
c.6596del (p.Arg2199LeufsTer?)
c.5789del (p.Arg1930LeufsTer?)
c.2090del (p.Arg697LeufsTer?)
c.6176del (p.Arg2059LeufsTer?)
c.5540del (p.Arg1847LeufsTer?)
c.2330del (p.Arg777LeufsTer?)
5g.177293964G>ACA132862454NSD1c.5723G>A (p.Arg1908His)
c.1238G>A (p.Arg413His)
n.6179G>A
n.1012G>A
c.6287G>A (p.Arg2096His)
n.5993G>A
c.6596G>A (p.Arg2199His)
c.5789G>A (p.Arg1930His)
c.2090G>A (p.Arg697His)
c.6176G>A (p.Arg2059His)
c.5540G>A (p.Arg1847His)
c.2330G>A (p.Arg777His)
 dbSNP gnomAD v4 COSMIC COSMIC
5g.177293964G>CCA362324229NSD1c.5723G>C (p.Arg1908Pro)
c.1238G>C (p.Arg413Pro)
n.6179G>C
n.1012G>C
c.6287G>C (p.Arg2096Pro)
n.5993G>C
c.6596G>C (p.Arg2199Pro)
c.5789G>C (p.Arg1930Pro)
c.2090G>C (p.Arg697Pro)
c.6176G>C (p.Arg2059Pro)
c.5540G>C (p.Arg1847Pro)
c.2330G>C (p.Arg777Pro)
5g.177293964G=CA1603535529NSD1c.5723G= (p.Arg1908=)
c.1238G= (p.Arg413=)
n.6179G=
n.1012G=
c.6287G= (p.Arg2096=)
n.5993G=
c.6596G= (p.Arg2199=)
c.5789G= (p.Arg1930=)
c.2090G= (p.Arg697=)
c.6176G= (p.Arg2059=)
c.5540G= (p.Arg1847=)
c.2330G= (p.Arg777=)
5g.177293964G>TCA362324232NSD1c.5723G>T (p.Arg1908Leu)
c.1238G>T (p.Arg413Leu)
n.6179G>T
n.1012G>T
c.6287G>T (p.Arg2096Leu)
n.5993G>T
c.6596G>T (p.Arg2199Leu)
c.5789G>T (p.Arg1930Leu)
c.2090G>T (p.Arg697Leu)
c.6176G>T (p.Arg2059Leu)
c.5540G>T (p.Arg1847Leu)
c.2330G>T (p.Arg777Leu)
5g.177293965T>ACA447961460NSD1c.5724T>A (p.Arg1908=)
c.1239T>A (p.Arg413=)
n.6180T>A
n.1013T>A
c.6288T>A (p.Arg2096=)
n.5994T>A
c.6597T>A (p.Arg2199=)
c.5790T>A (p.Arg1930=)
c.2091T>A (p.Arg697=)
c.6177T>A (p.Arg2059=)
c.5541T>A (p.Arg1847=)
c.2331T>A (p.Arg777=)
5g.177293965T>CCA447961461NSD1c.5724T>C (p.Arg1908=)
c.1239T>C (p.Arg413=)
n.6180T>C
n.1013T>C
c.6288T>C (p.Arg2096=)
n.5994T>C
c.6597T>C (p.Arg2199=)
c.5790T>C (p.Arg1930=)
c.2091T>C (p.Arg697=)
c.6177T>C (p.Arg2059=)
c.5541T>C (p.Arg1847=)
c.2331T>C (p.Arg777=)
5g.177293965T>GCA447961462NSD1c.5724T>G (p.Arg1908=)
c.1239T>G (p.Arg413=)
n.6180T>G
n.1013T>G
c.6288T>G (p.Arg2096=)
n.5994T>G
c.6597T>G (p.Arg2199=)
c.5790T>G (p.Arg1930=)
c.2091T>G (p.Arg697=)
c.6177T>G (p.Arg2059=)
c.5541T>G (p.Arg1847=)
c.2331T>G (p.Arg777=)
5g.177293966C>ACA362324236NSD1c.5725C>A (p.Leu1909Met)
c.1240C>A (p.Leu414Met)
n.6181C>A
n.1014C>A
c.6289C>A (p.Leu2097Met)
n.5995C>A
c.6598C>A (p.Leu2200Met)
c.5791C>A (p.Leu1931Met)
c.2092C>A (p.Leu698Met)
c.6178C>A (p.Leu2060Met)
c.5542C>A (p.Leu1848Met)
c.2332C>A (p.Leu778Met)
 dbSNP
5g.177293966C>GCA362324239NSD1c.5725C>G (p.Leu1909Val)
c.1240C>G (p.Leu414Val)
n.6181C>G
n.1014C>G
c.6289C>G (p.Leu2097Val)
n.5995C>G
c.6598C>G (p.Leu2200Val)
c.5791C>G (p.Leu1931Val)
c.2092C>G (p.Leu698Val)
c.6178C>G (p.Leu2060Val)
c.5542C>G (p.Leu1848Val)
c.2332C>G (p.Leu778Val)
 dbSNP
5g.177293966C>TCA447961463NSD1c.5725C>T (p.Leu1909=)
c.1240C>T (p.Leu414=)
n.6181C>T
n.1014C>T
c.6289C>T (p.Leu2097=)
n.5995C>T
c.6598C>T (p.Leu2200=)
c.5791C>T (p.Leu1931=)
c.2092C>T (p.Leu698=)
c.6178C>T (p.Leu2060=)
c.5542C>T (p.Leu1848=)
c.2332C>T (p.Leu778=)
 dbSNP
5g.177293967T>ACA362324241NSD1c.5726T>A (p.Leu1909Gln)
c.1241T>A (p.Leu414Gln)
n.6182T>A
n.1015T>A
c.6290T>A (p.Leu2097Gln)
n.5996T>A
c.6599T>A (p.Leu2200Gln)
c.5792T>A (p.Leu1931Gln)
c.2093T>A (p.Leu698Gln)
c.6179T>A (p.Leu2060Gln)
c.5543T>A (p.Leu1848Gln)
c.2333T>A (p.Leu778Gln)
5g.177293967T>CCA362324248NSD1c.5726T>C (p.Leu1909Pro)
c.1241T>C (p.Leu414Pro)
n.6182T>C
n.1015T>C
c.6290T>C (p.Leu2097Pro)
n.5996T>C
c.6599T>C (p.Leu2200Pro)
c.5792T>C (p.Leu1931Pro)
c.2093T>C (p.Leu698Pro)
c.6179T>C (p.Leu2060Pro)
c.5543T>C (p.Leu1848Pro)
c.2333T>C (p.Leu778Pro)
5g.177293967T>GCA362324245NSD1c.5726T>G (p.Leu1909Arg)
c.1241T>G (p.Leu414Arg)
n.6182T>G
n.1015T>G
c.6290T>G (p.Leu2097Arg)
n.5996T>G
c.6599T>G (p.Leu2200Arg)
c.5792T>G (p.Leu1931Arg)
c.2093T>G (p.Leu698Arg)
c.6179T>G (p.Leu2060Arg)
c.5543T>G (p.Leu1848Arg)
c.2333T>G (p.Leu778Arg)
5g.177293968G>ACA447961467NSD1c.5727G>A (p.Leu1909=)
c.1242G>A (p.Leu414=)
n.6183G>A
n.1016G>A
c.6291G>A (p.Leu2097=)
n.5997G>A
c.6600G>A (p.Leu2200=)
c.5793G>A (p.Leu1931=)
c.2094G>A (p.Leu698=)
c.6180G>A (p.Leu2060=)
c.5544G>A (p.Leu1848=)
c.2334G>A (p.Leu778=)
5g.177293968G>CCA447961469NSD1c.5727G>C (p.Leu1909=)
c.1242G>C (p.Leu414=)
n.6183G>C
n.1016G>C
c.6291G>C (p.Leu2097=)
n.5997G>C
c.6600G>C (p.Leu2200=)
c.5793G>C (p.Leu1931=)
c.2094G>C (p.Leu698=)
c.6180G>C (p.Leu2060=)
c.5544G>C (p.Leu1848=)
c.2334G>C (p.Leu778=)
5g.177293968G>TCA447961471NSD1c.5727G>T (p.Leu1909=)
c.1242G>T (p.Leu414=)
n.6183G>T
n.1016G>T
c.6291G>T (p.Leu2097=)
n.5997G>T
c.6600G>T (p.Leu2200=)
c.5793G>T (p.Leu1931=)
c.2094G>T (p.Leu698=)
c.6180G>T (p.Leu2060=)
c.5544G>T (p.Leu1848=)
c.2334G>T (p.Leu778=)
5g.177293969T>ACA362324252NSD1c.5728T>A (p.Ser1910Thr)
c.1243T>A (p.Ser415Thr)
n.6184T>A
n.1017T>A
c.6292T>A (p.Ser2098Thr)
n.5998T>A
c.6601T>A (p.Ser2201Thr)
c.5794T>A (p.Ser1932Thr)
c.2095T>A (p.Ser699Thr)
c.6181T>A (p.Ser2061Thr)
c.5545T>A (p.Ser1849Thr)
c.2335T>A (p.Ser779Thr)
5g.177293969T>CCA362324255NSD1c.5728T>C (p.Ser1910Pro)
c.1243T>C (p.Ser415Pro)
n.6184T>C
n.1017T>C
c.6292T>C (p.Ser2098Pro)
n.5998T>C
c.6601T>C (p.Ser2201Pro)
c.5794T>C (p.Ser1932Pro)
c.2095T>C (p.Ser699Pro)
c.6181T>C (p.Ser2061Pro)
c.5545T>C (p.Ser1849Pro)
c.2335T>C (p.Ser779Pro)
5g.177293969T>GCA362324256NSD1c.5728T>G (p.Ser1910Ala)
c.1243T>G (p.Ser415Ala)
n.6184T>G
n.1017T>G
c.6292T>G (p.Ser2098Ala)
n.5998T>G
c.6601T>G (p.Ser2201Ala)
c.5794T>G (p.Ser1932Ala)
c.2095T>G (p.Ser699Ala)
c.6181T>G (p.Ser2061Ala)
c.5545T>G (p.Ser1849Ala)
c.2335T>G (p.Ser779Ala)
5g.177293970C>ACA362324262NSD1c.5729C>A (p.Ser1910Tyr)
c.1244C>A (p.Ser415Tyr)
n.6185C>A
n.1018C>A
c.6293C>A (p.Ser2098Tyr)
n.5999C>A
c.6602C>A (p.Ser2201Tyr)
c.5795C>A (p.Ser1932Tyr)
c.2096C>A (p.Ser699Tyr)
c.6182C>A (p.Ser2061Tyr)
c.5546C>A (p.Ser1849Tyr)
c.2336C>A (p.Ser779Tyr)
5g.177293970C>GCA362324264NSD1c.5729C>G (p.Ser1910Cys)
c.1244C>G (p.Ser415Cys)
n.6185C>G
n.1018C>G
c.6293C>G (p.Ser2098Cys)
n.5999C>G
c.6602C>G (p.Ser2201Cys)
c.5795C>G (p.Ser1932Cys)
c.2096C>G (p.Ser699Cys)
c.6182C>G (p.Ser2061Cys)
c.5546C>G (p.Ser1849Cys)
c.2336C>G (p.Ser779Cys)
 dbSNP
5g.177293970C>TCA362324267NSD1c.5729C>T (p.Ser1910Phe)
c.1244C>T (p.Ser415Phe)
n.6185C>T
n.1018C>T
c.6293C>T (p.Ser2098Phe)
n.5999C>T
c.6602C>T (p.Ser2201Phe)
c.5795C>T (p.Ser1932Phe)
c.2096C>T (p.Ser699Phe)
c.6182C>T (p.Ser2061Phe)
c.5546C>T (p.Ser1849Phe)
c.2336C>T (p.Ser779Phe)
5g.177293971T>ACA447961491NSD1c.5730T>A (p.Ser1910=)
c.1245T>A (p.Ser415=)
n.6186T>A
n.1019T>A
c.6294T>A (p.Ser2098=)
n.6000T>A
c.6603T>A (p.Ser2201=)
c.5796T>A (p.Ser1932=)
c.2097T>A (p.Ser699=)
c.6183T>A (p.Ser2061=)
c.5547T>A (p.Ser1849=)
c.2337T>A (p.Ser779=)
 COSMIC COSMIC
5g.177293971T>CCA447961492NSD1c.5730T>C (p.Ser1910=)
c.1245T>C (p.Ser415=)
n.6186T>C
n.1019T>C
c.6294T>C (p.Ser2098=)
n.6000T>C
c.6603T>C (p.Ser2201=)
c.5796T>C (p.Ser1932=)
c.2097T>C (p.Ser699=)
c.6183T>C (p.Ser2061=)
c.5547T>C (p.Ser1849=)
c.2337T>C (p.Ser779=)
5g.177293971T>GCA447961493NSD1c.5730T>G (p.Ser1910=)
c.1245T>G (p.Ser415=)
n.6186T>G
n.1019T>G
c.6294T>G (p.Ser2098=)
n.6000T>G
c.6603T>G (p.Ser2201=)
c.5796T>G (p.Ser1932=)
c.2097T>G (p.Ser699=)
c.6183T>G (p.Ser2061=)
c.5547T>G (p.Ser1849=)
c.2337T>G (p.Ser779=)
5g.177293972T>ACA295105NSD1c.5731T>A (p.Cys1911Ser)
c.1246T>A (p.Cys416Ser)
n.6187T>A
n.1020T>A
c.6295T>A (p.Cys2099Ser)
n.6001T>A
c.6604T>A (p.Cys2202Ser)
c.5797T>A (p.Cys1933Ser)
c.2098T>A (p.Cys700Ser)
c.6184T>A (p.Cys2062Ser)
c.5548T>A (p.Cys1850Ser)
c.2338T>A (p.Cys780Ser)
 ClinVar dbSNP
5g.177293972T>CCA362324273NSD1c.5731T>C (p.Cys1911Arg)
c.1246T>C (p.Cys416Arg)
n.6187T>C
n.1020T>C
c.6295T>C (p.Cys2099Arg)
n.6001T>C
c.6604T>C (p.Cys2202Arg)
c.5797T>C (p.Cys1933Arg)
c.2098T>C (p.Cys700Arg)
c.6184T>C (p.Cys2062Arg)
c.5548T>C (p.Cys1850Arg)
c.2338T>C (p.Cys780Arg)
 gnomAD v4
5g.177293972T>GCA362324275NSD1c.5731T>G (p.Cys1911Gly)
c.1246T>G (p.Cys416Gly)
n.6187T>G
n.1020T>G
c.6295T>G (p.Cys2099Gly)
n.6001T>G
c.6604T>G (p.Cys2202Gly)
c.5797T>G (p.Cys1933Gly)
c.2098T>G (p.Cys700Gly)
c.6184T>G (p.Cys2062Gly)
c.5548T>G (p.Cys1850Gly)
c.2338T>G (p.Cys780Gly)
5g.177293972T=CA1603535533NSD1c.5731T= (p.Cys1911=)
c.1246T= (p.Cys416=)
n.6187T=
n.1020T=
c.6295T= (p.Cys2099=)
n.6001T=
c.6604T= (p.Cys2202=)
c.5797T= (p.Cys1933=)
c.2098T= (p.Cys700=)
c.6184T= (p.Cys2062=)
c.5548T= (p.Cys1850=)
c.2338T= (p.Cys780=)
5g.177293973G>ACA281548NSD1c.5732G>A (p.Cys1911Tyr)
c.1247G>A (p.Cys416Tyr)
n.6188G>A
n.1021G>A
c.6296G>A (p.Cys2099Tyr)
n.6002G>A
c.6605G>A (p.Cys2202Tyr)
c.5798G>A (p.Cys1933Tyr)
c.2099G>A (p.Cys700Tyr)
c.6185G>A (p.Cys2062Tyr)
c.5549G>A (p.Cys1850Tyr)
c.2339G>A (p.Cys780Tyr)
 ClinVar dbSNP
5g.177293973G>CCA362324281NSD1c.5732G>C (p.Cys1911Ser)
c.1247G>C (p.Cys416Ser)
n.6188G>C
n.1021G>C
c.6296G>C (p.Cys2099Ser)
n.6002G>C
c.6605G>C (p.Cys2202Ser)
c.5798G>C (p.Cys1933Ser)
c.2099G>C (p.Cys700Ser)
c.6185G>C (p.Cys2062Ser)
c.5549G>C (p.Cys1850Ser)
c.2339G>C (p.Cys780Ser)
5g.177293973G=CA1603535538NSD1c.5732G= (p.Cys1911=)
c.1247G= (p.Cys416=)
n.6188G=
n.1021G=
c.6296G= (p.Cys2099=)
n.6002G=
c.6605G= (p.Cys2202=)
c.5798G= (p.Cys1933=)
c.2099G= (p.Cys700=)
c.6185G= (p.Cys2062=)
c.5549G= (p.Cys1850=)
c.2339G= (p.Cys780=)
5g.177293973G>TCA362324284NSD1c.5732G>T (p.Cys1911Phe)
c.1247G>T (p.Cys416Phe)
n.6188G>T
n.1021G>T
c.6296G>T (p.Cys2099Phe)
n.6002G>T
c.6605G>T (p.Cys2202Phe)
c.5798G>T (p.Cys1933Phe)
c.2099G>T (p.Cys700Phe)
c.6185G>T (p.Cys2062Phe)
c.5549G>T (p.Cys1850Phe)
c.2339G>T (p.Cys780Phe)
 ClinVar
5g.177293974T>ACA362324288NSD1c.5733T>A (p.Cys1911Ter)
c.1248T>A (p.Cys416Ter)
n.6189T>A
n.1022T>A
c.6297T>A (p.Cys2099Ter)
n.6003T>A
c.6606T>A (p.Cys2202Ter)
c.5799T>A (p.Cys1933Ter)
c.2100T>A (p.Cys700Ter)
c.6186T>A (p.Cys2062Ter)
c.5550T>A (p.Cys1850Ter)
c.2340T>A (p.Cys780Ter)
5g.177293974T>CCA3578021NSD1c.5733T>C (p.Cys1911=)
c.1248T>C (p.Cys416=)
n.6189T>C
n.1022T>C
c.6297T>C (p.Cys2099=)
n.6003T>C
c.6606T>C (p.Cys2202=)
c.5799T>C (p.Cys1933=)
c.2100T>C (p.Cys700=)
c.6186T>C (p.Cys2062=)
c.5550T>C (p.Cys1850=)
c.2340T>C (p.Cys780=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.177293974T>GCA362324291NSD1c.5733T>G (p.Cys1911Trp)
c.1248T>G (p.Cys416Trp)
n.6189T>G
n.1022T>G
c.6297T>G (p.Cys2099Trp)
n.6003T>G
c.6606T>G (p.Cys2202Trp)
c.5799T>G (p.Cys1933Trp)
c.2100T>G (p.Cys700Trp)
c.6186T>G (p.Cys2062Trp)
c.5550T>G (p.Cys1850Trp)
c.2340T>G (p.Cys780Trp)
5g.177293974T=CA1603535547NSD1c.5733T= (p.Cys1911=)
c.1248T= (p.Cys416=)
n.6189T=
n.1022T=
c.6297T= (p.Cys2099=)
n.6003T=
c.6606T= (p.Cys2202=)
c.5799T= (p.Cys1933=)
c.2100T= (p.Cys700=)
c.6186T= (p.Cys2062=)
c.5550T= (p.Cys1850=)
c.2340T= (p.Cys780=)
5g.177293975A>CCA362324296NSD1c.5734A>C (p.Thr1912Pro)
c.1249A>C (p.Thr417Pro)
n.6190A>C
n.1023A>C
c.6298A>C (p.Thr2100Pro)
n.6004A>C
c.6607A>C (p.Thr2203Pro)
c.5800A>C (p.Thr1934Pro)
c.2101A>C (p.Thr701Pro)
c.6187A>C (p.Thr2063Pro)
c.5551A>C (p.Thr1851Pro)
c.2341A>C (p.Thr781Pro)
5g.177293975A>GCA362324298NSD1c.5734A>G (p.Thr1912Ala)
c.1249A>G (p.Thr417Ala)
n.6190A>G
n.1023A>G
c.6298A>G (p.Thr2100Ala)
n.6004A>G
c.6607A>G (p.Thr2203Ala)
c.5800A>G (p.Thr1934Ala)
c.2101A>G (p.Thr701Ala)
c.6187A>G (p.Thr2063Ala)
c.5551A>G (p.Thr1851Ala)
c.2341A>G (p.Thr781Ala)
5g.177293975A>TCA362324300NSD1c.5734A>T (p.Thr1912Ser)
c.1249A>T (p.Thr417Ser)
n.6190A>T
n.1023A>T
c.6298A>T (p.Thr2100Ser)
n.6004A>T
c.6607A>T (p.Thr2203Ser)
c.5800A>T (p.Thr1934Ser)
c.2101A>T (p.Thr701Ser)
c.6187A>T (p.Thr2063Ser)
c.5551A>T (p.Thr1851Ser)
c.2341A>T (p.Thr781Ser)
5g.177293976C>ACA362324304NSD1c.5735C>A (p.Thr1912Asn)
c.1250C>A (p.Thr417Asn)
n.6191C>A
n.1024C>A
c.6299C>A (p.Thr2100Asn)
n.6005C>A
c.6608C>A (p.Thr2203Asn)
c.5801C>A (p.Thr1934Asn)
c.2102C>A (p.Thr701Asn)
c.6188C>A (p.Thr2063Asn)
c.5552C>A (p.Thr1851Asn)
c.2342C>A (p.Thr781Asn)
5g.177293976C>GCA362324309NSD1c.5735C>G (p.Thr1912Ser)
c.1250C>G (p.Thr417Ser)
n.6191C>G
n.1024C>G
c.6299C>G (p.Thr2100Ser)
n.6005C>G
c.6608C>G (p.Thr2203Ser)
c.5801C>G (p.Thr1934Ser)
c.2102C>G (p.Thr701Ser)
c.6188C>G (p.Thr2063Ser)
c.5552C>G (p.Thr1851Ser)
c.2342C>G (p.Thr781Ser)
 dbSNP
5g.177293976C>TCA362324311NSD1c.5735C>T (p.Thr1912Ile)
c.1250C>T (p.Thr417Ile)
n.6191C>T
n.1024C>T
c.6299C>T (p.Thr2100Ile)
n.6005C>T
c.6608C>T (p.Thr2203Ile)
c.5801C>T (p.Thr1934Ile)
c.2102C>T (p.Thr701Ile)
c.6188C>T (p.Thr2063Ile)
c.5552C>T (p.Thr1851Ile)
c.2342C>T (p.Thr781Ile)
 dbSNP
5g.177293977T>ACA447961503NSD1c.5736T>A (p.Thr1912=)
c.1251T>A (p.Thr417=)
n.6192T>A
n.1025T>A
c.6300T>A (p.Thr2100=)
n.6006T>A
c.6609T>A (p.Thr2203=)
c.5802T>A (p.Thr1934=)
c.2103T>A (p.Thr701=)
c.6189T>A (p.Thr2063=)
c.5553T>A (p.Thr1851=)
c.2343T>A (p.Thr781=)
5g.177293977T>CCA447961505NSD1c.5736T>C (p.Thr1912=)
c.1251T>C (p.Thr417=)
n.6192T>C
n.1025T>C
c.6300T>C (p.Thr2100=)
n.6006T>C
c.6609T>C (p.Thr2203=)
c.5802T>C (p.Thr1934=)
c.2103T>C (p.Thr701=)
c.6189T>C (p.Thr2063=)
c.5553T>C (p.Thr1851=)
c.2343T>C (p.Thr781=)
 gnomAD v4
5g.177293977T>GCA447961506NSD1c.5736T>G (p.Thr1912=)
c.1251T>G (p.Thr417=)
n.6192T>G
n.1025T>G
c.6300T>G (p.Thr2100=)
n.6006T>G
c.6609T>G (p.Thr2203=)
c.5802T>G (p.Thr1934=)
c.2103T>G (p.Thr701=)
c.6189T>G (p.Thr2063=)
c.5553T>G (p.Thr1851=)
c.2343T>G (p.Thr781=)
5g.177293978G>ACA362324323NSD1c.5737G>A (p.Glu1913Lys)
c.1252G>A (p.Glu418Lys)
n.6193G>A
n.1026G>A
c.6301G>A (p.Glu2101Lys)
n.6007G>A
c.6610G>A (p.Glu2204Lys)
c.5803G>A (p.Glu1935Lys)
c.2104G>A (p.Glu702Lys)
c.6190G>A (p.Glu2064Lys)
c.5554G>A (p.Glu1852Lys)
c.2344G>A (p.Glu782Lys)
5g.177293978G>CCA362324316NSD1c.5737G>C (p.Glu1913Gln)
c.1252G>C (p.Glu418Gln)
n.6193G>C
n.1026G>C
c.6301G>C (p.Glu2101Gln)
n.6007G>C
c.6610G>C (p.Glu2204Gln)
c.5803G>C (p.Glu1935Gln)
c.2104G>C (p.Glu702Gln)
c.6190G>C (p.Glu2064Gln)
c.5554G>C (p.Glu1852Gln)
c.2344G>C (p.Glu782Gln)
5g.177293978G>TCA362324318NSD1c.5737G>T (p.Glu1913Ter)
c.1252G>T (p.Glu418Ter)
n.6193G>T
n.1026G>T
c.6301G>T (p.Glu2101Ter)
n.6007G>T
c.6610G>T (p.Glu2204Ter)
c.5803G>T (p.Glu1935Ter)
c.2104G>T (p.Glu702Ter)
c.6190G>T (p.Glu2064Ter)
c.5554G>T (p.Glu1852Ter)
c.2344G>T (p.Glu782Ter)
5g.177293979A>CCA362324326NSD1c.5738A>C (p.Glu1913Ala)
c.1253A>C (p.Glu418Ala)
n.6194A>C
n.1027A>C
c.6302A>C (p.Glu2101Ala)
n.6008A>C
c.6611A>C (p.Glu2204Ala)
c.5804A>C (p.Glu1935Ala)
c.2105A>C (p.Glu702Ala)
c.6191A>C (p.Glu2064Ala)
c.5555A>C (p.Glu1852Ala)
c.2345A>C (p.Glu782Ala)
5g.177293979A>GCA362324328NSD1c.5738A>G (p.Glu1913Gly)
c.1253A>G (p.Glu418Gly)
n.6194A>G
n.1027A>G
c.6302A>G (p.Glu2101Gly)
n.6008A>G
c.6611A>G (p.Glu2204Gly)
c.5804A>G (p.Glu1935Gly)
c.2105A>G (p.Glu702Gly)
c.6191A>G (p.Glu2064Gly)
c.5555A>G (p.Glu1852Gly)
c.2345A>G (p.Glu782Gly)
5g.177293979A>TCA362324331NSD1c.5738A>T (p.Glu1913Val)
c.1253A>T (p.Glu418Val)
n.6194A>T
n.1027A>T
c.6302A>T (p.Glu2101Val)
n.6008A>T
c.6611A>T (p.Glu2204Val)
c.5804A>T (p.Glu1935Val)
c.2105A>T (p.Glu702Val)
c.6191A>T (p.Glu2064Val)
c.5555A>T (p.Glu1852Val)
c.2345A>T (p.Glu782Val)
5g.177293980G>ACA447961507NSD1c.5739G>A (p.Glu1913=)
c.1254G>A (p.Glu418=)
n.6195G>A
n.1028G>A
c.6303G>A (p.Glu2101=)
n.6009G>A
c.6612G>A (p.Glu2204=)
c.5805G>A (p.Glu1935=)
c.2106G>A (p.Glu702=)
c.6192G>A (p.Glu2064=)
c.5556G>A (p.Glu1852=)
c.2346G>A (p.Glu782=)
5g.177293980G>CCA362324335NSD1c.5739G>C (p.Glu1913Asp)
c.1254G>C (p.Glu418Asp)
n.6195G>C
n.1028G>C
c.6303G>C (p.Glu2101Asp)
n.6009G>C
c.6612G>C (p.Glu2204Asp)
c.5805G>C (p.Glu1935Asp)
c.2106G>C (p.Glu702Asp)
c.6192G>C (p.Glu2064Asp)
c.5556G>C (p.Glu1852Asp)
c.2346G>C (p.Glu782Asp)
5g.177293980G>TCA362324338NSD1c.5739G>T (p.Glu1913Asp)
c.1254G>T (p.Glu418Asp)
n.6195G>T
n.1028G>T
c.6303G>T (p.Glu2101Asp)
n.6009G>T
c.6612G>T (p.Glu2204Asp)
c.5805G>T (p.Glu1935Asp)
c.2106G>T (p.Glu702Asp)
c.6192G>T (p.Glu2064Asp)
c.5556G>T (p.Glu1852Asp)
c.2346G>T (p.Glu782Asp)
5g.177293981C>ACA362324342NSD1c.5740C>A (p.His1914Asn)
c.1255C>A (p.His419Asn)
n.6196C>A
n.1029C>A
c.6304C>A (p.His2102Asn)
n.6010C>A
c.6613C>A (p.His2205Asn)
c.5806C>A (p.His1936Asn)
c.2107C>A (p.His703Asn)
c.6193C>A (p.His2065Asn)
c.5557C>A (p.His1853Asn)
c.2347C>A (p.His783Asn)
5g.177293981C=CA1603535553NSD1c.5740C= (p.His1914=)
c.1255C= (p.His419=)
n.6196C=
n.1029C=
c.6304C= (p.His2102=)
n.6010C=
c.6613C= (p.His2205=)
c.5806C= (p.His1936=)
c.2107C= (p.His703=)
c.6193C= (p.His2065=)
c.5557C= (p.His1853=)
c.2347C= (p.His783=)
5g.177293981C>GCA362324347NSD1c.5740C>G (p.His1914Asp)
c.1255C>G (p.His419Asp)
n.6196C>G
n.1029C>G
c.6304C>G (p.His2102Asp)
n.6010C>G
c.6613C>G (p.His2205Asp)
c.5806C>G (p.His1936Asp)
c.2107C>G (p.His703Asp)
c.6193C>G (p.His2065Asp)
c.5557C>G (p.His1853Asp)
c.2347C>G (p.His783Asp)
5g.177293981C>TCA362324344NSD1c.5740C>T (p.His1914Tyr)
c.1255C>T (p.His419Tyr)
n.6196C>T
n.1029C>T
c.6304C>T (p.His2102Tyr)
n.6010C>T
c.6613C>T (p.His2205Tyr)
c.5806C>T (p.His1936Tyr)
c.2107C>T (p.His703Tyr)
c.6193C>T (p.His2065Tyr)
c.5557C>T (p.His1853Tyr)
c.2347C>T (p.His783Tyr)
 ClinVar dbSNP
5g.177293982A>CCA362324351NSD1c.5741A>C (p.His1914Pro)
c.1256A>C (p.His419Pro)
n.6197A>C
n.1030A>C
c.6305A>C (p.His2102Pro)
n.6011A>C
c.6614A>C (p.His2205Pro)
c.5807A>C (p.His1936Pro)
c.2108A>C (p.His703Pro)
c.6194A>C (p.His2065Pro)
c.5558A>C (p.His1853Pro)
c.2348A>C (p.His783Pro)
 ClinVar dbSNP
5g.177293982A>GCA362324354NSD1c.5741A>G (p.His1914Arg)
c.1256A>G (p.His419Arg)
n.6197A>G
n.1030A>G
c.6305A>G (p.His2102Arg)
n.6011A>G
c.6614A>G (p.His2205Arg)
c.5807A>G (p.His1936Arg)
c.2108A>G (p.His703Arg)
c.6194A>G (p.His2065Arg)
c.5558A>G (p.His1853Arg)
c.2348A>G (p.His783Arg)
 ClinVar
5g.177293982A>TCA362324356NSD1c.5741A>T (p.His1914Leu)
c.1256A>T (p.His419Leu)
n.6197A>T
n.1030A>T
c.6305A>T (p.His2102Leu)
n.6011A>T
c.6614A>T (p.His2205Leu)
c.5807A>T (p.His1936Leu)
c.2108A>T (p.His703Leu)
c.6194A>T (p.His2065Leu)
c.5558A>T (p.His1853Leu)
c.2348A>T (p.His783Leu)
5g.177293983T>ACA362324360NSD1c.5742T>A (p.His1914Gln)
c.1257T>A (p.His419Gln)
n.6198T>A
n.1031T>A
c.6306T>A (p.His2102Gln)
n.6012T>A
c.6615T>A (p.His2205Gln)
c.5808T>A (p.His1936Gln)
c.2109T>A (p.His703Gln)
c.6195T>A (p.His2065Gln)
c.5559T>A (p.His1853Gln)
c.2349T>A (p.His783Gln)
5g.177293983T>CCA447961511NSD1c.5742T>C (p.His1914=)
c.1257T>C (p.His419=)
n.6198T>C
n.1031T>C
c.6306T>C (p.His2102=)
n.6012T>C
c.6615T>C (p.His2205=)
c.5808T>C (p.His1936=)
c.2109T>C (p.His703=)
c.6195T>C (p.His2065=)
c.5559T>C (p.His1853=)
c.2349T>C (p.His783=)
 dbSNP gnomAD v3 gnomAD v4
5g.177293983T>GCA362324363NSD1c.5742T>G (p.His1914Gln)
c.1257T>G (p.His419Gln)
n.6198T>G
n.1031T>G
c.6306T>G (p.His2102Gln)
n.6012T>G
c.6615T>G (p.His2205Gln)
c.5808T>G (p.His1936Gln)
c.2109T>G (p.His703Gln)
c.6195T>G (p.His2065Gln)
c.5559T>G (p.His1853Gln)
c.2349T>G (p.His783Gln)
5g.177293983T=CA1603535559NSD1c.5742T= (p.His1914=)
c.1257T= (p.His419=)
n.6198T=
n.1031T=
c.6306T= (p.His2102=)
n.6012T=
c.6615T= (p.His2205=)
c.5808T= (p.His1936=)
c.2109T= (p.His703=)
c.6195T= (p.His2065=)
c.5559T= (p.His1853=)
c.2349T= (p.His783=)
5g.177293984G>ACA362324367NSD1c.5743G>A (p.Asp1915Asn)
c.1258G>A (p.Asp420Asn)
n.6199G>A
n.1032G>A
c.6307G>A (p.Asp2103Asn)
n.6013G>A
c.6616G>A (p.Asp2206Asn)
c.5809G>A (p.Asp1937Asn)
c.2110G>A (p.Asp704Asn)
c.6196G>A (p.Asp2066Asn)
c.5560G>A (p.Asp1854Asn)
c.2350G>A (p.Asp784Asn)
5g.177293984G>CCA362324369NSD1c.5743G>C (p.Asp1915His)
c.1258G>C (p.Asp420His)
n.6199G>C
n.1032G>C
c.6307G>C (p.Asp2103His)
n.6013G>C
c.6616G>C (p.Asp2206His)
c.5809G>C (p.Asp1937His)
c.2110G>C (p.Asp704His)
c.6196G>C (p.Asp2066His)
c.5560G>C (p.Asp1854His)
c.2350G>C (p.Asp784His)
5g.177293984G>TCA362324373NSD1c.5743G>T (p.Asp1915Tyr)
c.1258G>T (p.Asp420Tyr)
n.6199G>T
n.1032G>T
c.6307G>T (p.Asp2103Tyr)
n.6013G>T
c.6616G>T (p.Asp2206Tyr)
c.5809G>T (p.Asp1937Tyr)
c.2110G>T (p.Asp704Tyr)
c.6196G>T (p.Asp2066Tyr)
c.5560G>T (p.Asp1854Tyr)
c.2350G>T (p.Asp784Tyr)
5g.177293985A>CCA362324377NSD1c.5744A>C (p.Asp1915Ala)
c.1259A>C (p.Asp420Ala)
n.6200A>C
n.1033A>C
c.6308A>C (p.Asp2103Ala)
n.6014A>C
c.6617A>C (p.Asp2206Ala)
c.5810A>C (p.Asp1937Ala)
c.2111A>C (p.Asp704Ala)
c.6197A>C (p.Asp2066Ala)
c.5561A>C (p.Asp1854Ala)
c.2351A>C (p.Asp784Ala)
5g.177293985A>GCA362324380NSD1c.5744A>G (p.Asp1915Gly)
c.1259A>G (p.Asp420Gly)
n.6200A>G
n.1033A>G
c.6308A>G (p.Asp2103Gly)
n.6014A>G
c.6617A>G (p.Asp2206Gly)
c.5810A>G (p.Asp1937Gly)
c.2111A>G (p.Asp704Gly)
c.6197A>G (p.Asp2066Gly)
c.5561A>G (p.Asp1854Gly)
c.2351A>G (p.Asp784Gly)
5g.177293985A>TCA362324381NSD1c.5744A>T (p.Asp1915Val)
c.1259A>T (p.Asp420Val)
n.6200A>T
n.1033A>T
c.6308A>T (p.Asp2103Val)
n.6014A>T
c.6617A>T (p.Asp2206Val)
c.5810A>T (p.Asp1937Val)
c.2111A>T (p.Asp704Val)
c.6197A>T (p.Asp2066Val)
c.5561A>T (p.Asp1854Val)
c.2351A>T (p.Asp784Val)
 dbSNP
5g.177293986C>ACA362324386NSD1c.5745C>A (p.Asp1915Glu)
c.1260C>A (p.Asp420Glu)
n.6201C>A
n.1034C>A
c.6309C>A (p.Asp2103Glu)
n.6015C>A
c.6618C>A (p.Asp2206Glu)
c.5811C>A (p.Asp1937Glu)
c.2112C>A (p.Asp704Glu)
c.6198C>A (p.Asp2066Glu)
c.5562C>A (p.Asp1854Glu)
c.2352C>A (p.Asp784Glu)
 dbSNP
5g.177293986C>GCA362324388NSD1c.5745C>G (p.Asp1915Glu)
c.1260C>G (p.Asp420Glu)
n.6201C>G
n.1034C>G
c.6309C>G (p.Asp2103Glu)
n.6015C>G
c.6618C>G (p.Asp2206Glu)
c.5811C>G (p.Asp1937Glu)
c.2112C>G (p.Asp704Glu)
c.6198C>G (p.Asp2066Glu)
c.5562C>G (p.Asp1854Glu)
c.2352C>G (p.Asp784Glu)
5g.177293986C>TCA447961515NSD1c.5745C>T (p.Asp1915=)
c.1260C>T (p.Asp420=)
n.6201C>T
n.1034C>T
c.6309C>T (p.Asp2103=)
n.6015C>T
c.6618C>T (p.Asp2206=)
c.5811C>T (p.Asp1937=)
c.2112C>T (p.Asp704=)
c.6198C>T (p.Asp2066=)
c.5562C>T (p.Asp1854=)
c.2352C>T (p.Asp784=)
5g.177293987C>ACA362324392NSD1c.5746C>A (p.Pro1916Thr)
c.1261C>A (p.Pro421Thr)
n.6202C>A
n.1035C>A
c.6310C>A (p.Pro2104Thr)
n.6016C>A
c.6619C>A (p.Pro2207Thr)
c.5812C>A (p.Pro1938Thr)
c.2113C>A (p.Pro705Thr)
c.6199C>A (p.Pro2067Thr)
c.5563C>A (p.Pro1855Thr)
c.2353C>A (p.Pro785Thr)
5g.177293987C>GCA362324399NSD1c.5746C>G (p.Pro1916Ala)
c.1261C>G (p.Pro421Ala)
n.6202C>G
n.1035C>G
c.6310C>G (p.Pro2104Ala)
n.6016C>G
c.6619C>G (p.Pro2207Ala)
c.5812C>G (p.Pro1938Ala)
c.2113C>G (p.Pro705Ala)
c.6199C>G (p.Pro2067Ala)
c.5563C>G (p.Pro1855Ala)
c.2353C>G (p.Pro785Ala)
5g.177293987C>TCA362324395NSD1c.5746C>T (p.Pro1916Ser)
c.1261C>T (p.Pro421Ser)
n.6202C>T
n.1035C>T
c.6310C>T (p.Pro2104Ser)
n.6016C>T
c.6619C>T (p.Pro2207Ser)
c.5812C>T (p.Pro1938Ser)
c.2113C>T (p.Pro705Ser)
c.6199C>T (p.Pro2067Ser)
c.5563C>T (p.Pro1855Ser)
c.2353C>T (p.Pro785Ser)
5g.177293988C>ACA362324402NSD1c.5747C>A (p.Pro1916His)
c.1262C>A (p.Pro421His)
n.6203C>A
n.1036C>A
c.6311C>A (p.Pro2104His)
n.6017C>A
c.6620C>A (p.Pro2207His)
c.5813C>A (p.Pro1938His)
c.2114C>A (p.Pro705His)
c.6200C>A (p.Pro2067His)
c.5564C>A (p.Pro1855His)
c.2354C>A (p.Pro785His)
 dbSNP COSMIC COSMIC
5g.177293988C>GCA362324405NSD1c.5747C>G (p.Pro1916Arg)
c.1262C>G (p.Pro421Arg)
n.6203C>G
n.1036C>G
c.6311C>G (p.Pro2104Arg)
n.6017C>G
c.6620C>G (p.Pro2207Arg)
c.5813C>G (p.Pro1938Arg)
c.2114C>G (p.Pro705Arg)
c.6200C>G (p.Pro2067Arg)
c.5564C>G (p.Pro1855Arg)
c.2354C>G (p.Pro785Arg)
5g.177293988C>TCA362324407NSD1c.5747C>T (p.Pro1916Leu)
c.1262C>T (p.Pro421Leu)
n.6203C>T
n.1036C>T
c.6311C>T (p.Pro2104Leu)
n.6017C>T
c.6620C>T (p.Pro2207Leu)
c.5813C>T (p.Pro1938Leu)
c.2114C>T (p.Pro705Leu)
c.6200C>T (p.Pro2067Leu)
c.5564C>T (p.Pro1855Leu)
c.2354C>T (p.Pro785Leu)
 ClinVar
5g.177293989C>ACA447961519NSD1c.5748C>A (p.Pro1916=)
c.1263C>A (p.Pro421=)
n.6204C>A
n.1037C>A
c.6312C>A (p.Pro2104=)
n.6018C>A
c.6621C>A (p.Pro2207=)
c.5814C>A (p.Pro1938=)
c.2115C>A (p.Pro705=)
c.6201C>A (p.Pro2067=)
c.5565C>A (p.Pro1855=)
c.2355C>A (p.Pro785=)
 dbSNP
5g.177293989C=CA1603535563NSD1c.5748C= (p.Pro1916=)
c.1263C= (p.Pro421=)
n.6204C=
n.1037C=
c.6312C= (p.Pro2104=)
n.6018C=
c.6621C= (p.Pro2207=)
c.5814C= (p.Pro1938=)
c.2115C= (p.Pro705=)
c.6201C= (p.Pro2067=)
c.5565C= (p.Pro1855=)
c.2355C= (p.Pro785=)
5g.177293989C>GCA447961521NSD1c.5748C>G (p.Pro1916=)
c.1263C>G (p.Pro421=)
n.6204C>G
n.1037C>G
c.6312C>G (p.Pro2104=)
n.6018C>G
c.6621C>G (p.Pro2207=)
c.5814C>G (p.Pro1938=)
c.2115C>G (p.Pro705=)
c.6201C>G (p.Pro2067=)
c.5565C>G (p.Pro1855=)
c.2355C>G (p.Pro785=)
5g.177293989C>TCA132862457NSD1c.5748C>T (p.Pro1916=)
c.1263C>T (p.Pro421=)
n.6204C>T
n.1037C>T
c.6312C>T (p.Pro2104=)
n.6018C>T
c.6621C>T (p.Pro2207=)
c.5814C>T (p.Pro1938=)
c.2115C>T (p.Pro705=)
c.6201C>T (p.Pro2067=)
c.5565C>T (p.Pro1855=)
c.2355C>T (p.Pro785=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177293990T>ACA362324410NSD1c.5749T>A (p.Cys1917Ser)
c.1264T>A (p.Cys422Ser)
n.6205T>A
n.1038T>A
c.6313T>A (p.Cys2105Ser)
n.6019T>A
c.6622T>A (p.Cys2208Ser)
c.5815T>A (p.Cys1939Ser)
c.2116T>A (p.Cys706Ser)
c.6202T>A (p.Cys2068Ser)
c.5566T>A (p.Cys1856Ser)
c.2356T>A (p.Cys786Ser)
5g.177293990T>CCA362324413NSD1c.5749T>C (p.Cys1917Arg)
c.1264T>C (p.Cys422Arg)
n.6205T>C
n.1038T>C
c.6313T>C (p.Cys2105Arg)
n.6019T>C
c.6622T>C (p.Cys2208Arg)
c.5815T>C (p.Cys1939Arg)
c.2116T>C (p.Cys706Arg)
c.6202T>C (p.Cys2068Arg)
c.5566T>C (p.Cys1856Arg)
c.2356T>C (p.Cys786Arg)
5g.177293990T>GCA362324416NSD1c.5749T>G (p.Cys1917Gly)
c.1264T>G (p.Cys422Gly)
n.6205T>G
n.1038T>G
c.6313T>G (p.Cys2105Gly)
n.6019T>G
c.6622T>G (p.Cys2208Gly)
c.5815T>G (p.Cys1939Gly)
c.2116T>G (p.Cys706Gly)
c.6202T>G (p.Cys2068Gly)
c.5566T>G (p.Cys1856Gly)
c.2356T>G (p.Cys786Gly)
5g.177293991G>ACA362324425NSD1c.5750G>A (p.Cys1917Tyr)
c.1265G>A (p.Cys422Tyr)
n.6206G>A
n.1039G>A
c.6314G>A (p.Cys2105Tyr)
n.6020G>A
c.6623G>A (p.Cys2208Tyr)
c.5816G>A (p.Cys1939Tyr)
c.2117G>A (p.Cys706Tyr)
c.6203G>A (p.Cys2068Tyr)
c.5567G>A (p.Cys1856Tyr)
c.2357G>A (p.Cys786Tyr)
 dbSNP
5g.177293991G>CCA362324420NSD1c.5750G>C (p.Cys1917Ser)
c.1265G>C (p.Cys422Ser)
n.6206G>C
n.1039G>C
c.6314G>C (p.Cys2105Ser)
n.6020G>C
c.6623G>C (p.Cys2208Ser)
c.5816G>C (p.Cys1939Ser)
c.2117G>C (p.Cys706Ser)
c.6203G>C (p.Cys2068Ser)
c.5567G>C (p.Cys1856Ser)
c.2357G>C (p.Cys786Ser)
5g.177293991G>TCA362324422NSD1c.5750G>T (p.Cys1917Phe)
c.1265G>T (p.Cys422Phe)
n.6206G>T
n.1039G>T
c.6314G>T (p.Cys2105Phe)
n.6020G>T
c.6623G>T (p.Cys2208Phe)
c.5816G>T (p.Cys1939Phe)
c.2117G>T (p.Cys706Phe)
c.6203G>T (p.Cys2068Phe)
c.5567G>T (p.Cys1856Phe)
c.2357G>T (p.Cys786Phe)
5g.177293992T>ACA362324429NSD1c.5751T>A (p.Cys1917Ter)
c.1266T>A (p.Cys422Ter)
n.6207T>A
n.1040T>A
c.6315T>A (p.Cys2105Ter)
n.6021T>A
c.6624T>A (p.Cys2208Ter)
c.5817T>A (p.Cys1939Ter)
c.2118T>A (p.Cys706Ter)
c.6204T>A (p.Cys2068Ter)
c.5568T>A (p.Cys1856Ter)
c.2358T>A (p.Cys786Ter)
5g.177293992T>CCA447961524NSD1c.5751T>C (p.Cys1917=)
c.1266T>C (p.Cys422=)
n.6207T>C
n.1040T>C
c.6315T>C (p.Cys2105=)
n.6021T>C
c.6624T>C (p.Cys2208=)
c.5817T>C (p.Cys1939=)
c.2118T>C (p.Cys706=)
c.6204T>C (p.Cys2068=)
c.5568T>C (p.Cys1856=)
c.2358T>C (p.Cys786=)
5g.177293992T>GCA362324431NSD1c.5751T>G (p.Cys1917Trp)
c.1266T>G (p.Cys422Trp)
n.6207T>G
n.1040T>G
c.6315T>G (p.Cys2105Trp)
n.6021T>G
c.6624T>G (p.Cys2208Trp)
c.5817T>G (p.Cys1939Trp)
c.2118T>G (p.Cys706Trp)
c.6204T>G (p.Cys2068Trp)
c.5568T>G (p.Cys1856Trp)
c.2358T>G (p.Cys786Trp)
5g.177293993G>ACA362324437NSD1c.5752G>A (p.Gly1918Arg)
c.1267G>A (p.Gly423Arg)
n.6208G>A
n.1041G>A
c.6316G>A (p.Gly2106Arg)
n.6022G>A
c.6625G>A (p.Gly2209Arg)
c.5818G>A (p.Gly1940Arg)
c.2119G>A (p.Gly707Arg)
c.6205G>A (p.Gly2069Arg)
c.5569G>A (p.Gly1857Arg)
c.2359G>A (p.Gly787Arg)
5g.177293993G>CCA362324438NSD1c.5752G>C (p.Gly1918Arg)
c.1267G>C (p.Gly423Arg)
n.6208G>C
n.1041G>C
c.6316G>C (p.Gly2106Arg)
n.6022G>C
c.6625G>C (p.Gly2209Arg)
c.5818G>C (p.Gly1940Arg)
c.2119G>C (p.Gly707Arg)
c.6205G>C (p.Gly2069Arg)
c.5569G>C (p.Gly1857Arg)
c.2359G>C (p.Gly787Arg)
 ClinVar
5g.177293993G=CA1603535566NSD1c.5752G= (p.Gly1918=)
c.1267G= (p.Gly423=)
n.6208G=
n.1041G=
c.6316G= (p.Gly2106=)
n.6022G=
c.6625G= (p.Gly2209=)
c.5818G= (p.Gly1940=)
c.2119G= (p.Gly707=)
c.6205G= (p.Gly2069=)
c.5569G= (p.Gly1857=)
c.2359G= (p.Gly787=)
5g.177293993G>TCA362324442NSD1c.5752G>T (p.Gly1918Trp)
c.1267G>T (p.Gly423Trp)
n.6208G>T
n.1041G>T
c.6316G>T (p.Gly2106Trp)
n.6022G>T
c.6625G>T (p.Gly2209Trp)
c.5818G>T (p.Gly1940Trp)
c.2119G>T (p.Gly707Trp)
c.6205G>T (p.Gly2069Trp)
c.5569G>T (p.Gly1857Trp)
c.2359G>T (p.Gly787Trp)
 ClinVar dbSNP
5g.177293994G>ACA362324447NSD1c.5753G>A (p.Gly1918Glu)
c.1268G>A (p.Gly423Glu)
n.6209G>A
n.1042G>A
c.6317G>A (p.Gly2106Glu)
n.6023G>A
c.6626G>A (p.Gly2209Glu)
c.5819G>A (p.Gly1940Glu)
c.2120G>A (p.Gly707Glu)
c.6206G>A (p.Gly2069Glu)
c.5570G>A (p.Gly1857Glu)
c.2360G>A (p.Gly787Glu)
5g.177293994G>CCA362324453NSD1c.5753G>C (p.Gly1918Ala)
c.1268G>C (p.Gly423Ala)
n.6209G>C
n.1042G>C
c.6317G>C (p.Gly2106Ala)
n.6023G>C
c.6626G>C (p.Gly2209Ala)
c.5819G>C (p.Gly1940Ala)
c.2120G>C (p.Gly707Ala)
c.6206G>C (p.Gly2069Ala)
c.5570G>C (p.Gly1857Ala)
c.2360G>C (p.Gly787Ala)
5g.177293994G>TCA362324449NSD1c.5753G>T (p.Gly1918Val)
c.1268G>T (p.Gly423Val)
n.6209G>T
n.1042G>T
c.6317G>T (p.Gly2106Val)
n.6023G>T
c.6626G>T (p.Gly2209Val)
c.5819G>T (p.Gly1940Val)
c.2120G>T (p.Gly707Val)
c.6206G>T (p.Gly2069Val)
c.5570G>T (p.Gly1857Val)
c.2360G>T (p.Gly787Val)
 dbSNP
5g.177293995G>ACA447961527NSD1c.5754G>A (p.Gly1918=)
c.1269G>A (p.Gly423=)
n.6210G>A
n.1043G>A
c.6318G>A (p.Gly2106=)
n.6024G>A
c.6627G>A (p.Gly2209=)
c.5820G>A (p.Gly1940=)
c.2121G>A (p.Gly707=)
c.6207G>A (p.Gly2069=)
c.5571G>A (p.Gly1857=)
c.2361G>A (p.Gly787=)
 dbSNP
5g.177293995G>CCA447961528NSD1c.5754G>C (p.Gly1918=)
c.1269G>C (p.Gly423=)
n.6210G>C
n.1043G>C
c.6318G>C (p.Gly2106=)
n.6024G>C
c.6627G>C (p.Gly2209=)
c.5820G>C (p.Gly1940=)
c.2121G>C (p.Gly707=)
c.6207G>C (p.Gly2069=)
c.5571G>C (p.Gly1857=)
c.2361G>C (p.Gly787=)
5g.177293995G>TCA447961529NSD1c.5754G>T (p.Gly1918=)
c.1269G>T (p.Gly423=)
n.6210G>T
n.1043G>T
c.6318G>T (p.Gly2106=)
n.6024G>T
c.6627G>T (p.Gly2209=)
c.5820G>T (p.Gly1940=)
c.2121G>T (p.Gly707=)
c.6207G>T (p.Gly2069=)
c.5571G>T (p.Gly1857=)
c.2361G>T (p.Gly787=)
5g.177293995_177294010delinsGCCCAATCCTCTGGAACA1603535569NSD1c.5754_5769delinsGCCCAATCCTCTGGAA (p.Gly1918=)
c.1269_1284delinsGCCCAATCCTCTGGAA (p.Gly423=)
n.6210_6225delinsGCCCAATCCTCTGGAA
n.1043_1058delinsGCCCAATCCTCTGGAA
c.6318_6333delinsGCCCAATCCTCTGGAA (p.Gly2106=)
n.6024_6039delinsGCCCAATCCTCTGGAA
c.6627_6642delinsGCCCAATCCTCTGGAA (p.Gly2209=)
c.5820_5835delinsGCCCAATCCTCTGGAA (p.Gly1940=)
c.2121_2136delinsGCCCAATCCTCTGGAA (p.Gly707=)
c.6207_6222delinsGCCCAATCCTCTGGAA (p.Gly2069=)
c.5571_5586delinsGCCCAATCCTCTGGAA (p.Gly1857=)
c.2361_2376delinsGCCCAATCCTCTGGAA (p.Gly787=)
5g.177293996C>ACA362324459NSD1c.5755C>A (p.Pro1919Thr)
c.1270C>A (p.Pro424Thr)
n.6211C>A
n.1044C>A
c.6319C>A (p.Pro2107Thr)
n.6025C>A
c.6628C>A (p.Pro2210Thr)
c.5821C>A (p.Pro1941Thr)
c.2122C>A (p.Pro708Thr)
c.6208C>A (p.Pro2070Thr)
c.5572C>A (p.Pro1858Thr)
c.2362C>A (p.Pro788Thr)
5g.177293996C=CA1603535580NSD1c.5755C= (p.Pro1919=)
c.1270C= (p.Pro424=)
n.6211C=
n.1044C=
c.6319C= (p.Pro2107=)
n.6025C=
c.6628C= (p.Pro2210=)
c.5821C= (p.Pro1941=)
c.2122C= (p.Pro708=)
c.6208C= (p.Pro2070=)
c.5572C= (p.Pro1858=)
c.2362C= (p.Pro788=)
5g.177293996C>GCA132862466NSD1c.5755C>G (p.Pro1919Ala)
c.1270C>G (p.Pro424Ala)
n.6211C>G
n.1044C>G
c.6319C>G (p.Pro2107Ala)
n.6025C>G
c.6628C>G (p.Pro2210Ala)
c.5821C>G (p.Pro1941Ala)
c.2122C>G (p.Pro708Ala)
c.6208C>G (p.Pro2070Ala)
c.5572C>G (p.Pro1858Ala)
c.2362C>G (p.Pro788Ala)
 dbSNP gnomAD v4
5g.177293996C>TCA362324463NSD1c.5755C>T (p.Pro1919Ser)
c.1270C>T (p.Pro424Ser)
n.6211C>T
n.1044C>T
c.6319C>T (p.Pro2107Ser)
n.6025C>T
c.6628C>T (p.Pro2210Ser)
c.5821C>T (p.Pro1941Ser)
c.2122C>T (p.Pro708Ser)
c.6208C>T (p.Pro2070Ser)
c.5572C>T (p.Pro1858Ser)
c.2362C>T (p.Pro788Ser)
 dbSNP
5g.177293998_177294012delCA295108NSD1c.5757_5771del (p.Asn1920_Pro1924del)
c.1272_1286del (p.Asn425_Pro429del)
n.6213_6227del
n.1046_1060del
c.6321_6335del (p.Asn2108_Pro2112del)
n.6027_6041del
c.6630_6644del (p.Asn2211_Pro2215del)
c.5823_5837del (p.Asn1942_Pro1946del)
c.2124_2138del (p.Asn709_Pro713del)
c.6210_6224del (p.Asn2071_Pro2075del)
c.5574_5588del (p.Asn1859_Pro1863del)
c.2364_2378del (p.Asn789_Pro793del)
 ClinVar dbSNP
5g.177293997C>ACA362324468NSD1c.5756C>A (p.Pro1919His)
c.1271C>A (p.Pro424His)
n.6212C>A
n.1045C>A
c.6320C>A (p.Pro2107His)
n.6026C>A
c.6629C>A (p.Pro2210His)
c.5822C>A (p.Pro1941His)
c.2123C>A (p.Pro708His)
c.6209C>A (p.Pro2070His)
c.5573C>A (p.Pro1858His)
c.2363C>A (p.Pro788His)
5g.177293997C>GCA362324471NSD1c.5756C>G (p.Pro1919Arg)
c.1271C>G (p.Pro424Arg)
n.6212C>G
n.1045C>G
c.6320C>G (p.Pro2107Arg)
n.6026C>G
c.6629C>G (p.Pro2210Arg)
c.5822C>G (p.Pro1941Arg)
c.2123C>G (p.Pro708Arg)
c.6209C>G (p.Pro2070Arg)
c.5573C>G (p.Pro1858Arg)
c.2363C>G (p.Pro788Arg)
5g.177293997C>TCA362324474NSD1c.5756C>T (p.Pro1919Leu)
c.1271C>T (p.Pro424Leu)
n.6212C>T
n.1045C>T
c.6320C>T (p.Pro2107Leu)
n.6026C>T
c.6629C>T (p.Pro2210Leu)
c.5822C>T (p.Pro1941Leu)
c.2123C>T (p.Pro708Leu)
c.6209C>T (p.Pro2070Leu)
c.5573C>T (p.Pro1858Leu)
c.2363C>T (p.Pro788Leu)
5g.177293998C>ACA447961533NSD1c.5757C>A (p.Pro1919=)
c.1272C>A (p.Pro424=)
n.6213C>A
n.1046C>A
c.6321C>A (p.Pro2107=)
n.6027C>A
c.6630C>A (p.Pro2210=)
c.5823C>A (p.Pro1941=)
c.2124C>A (p.Pro708=)
c.6210C>A (p.Pro2070=)
c.5574C>A (p.Pro1858=)
c.2364C>A (p.Pro788=)
5g.177293998C>GCA447961534NSD1c.5757C>G (p.Pro1919=)
c.1272C>G (p.Pro424=)
n.6213C>G
n.1046C>G
c.6321C>G (p.Pro2107=)
n.6027C>G
c.6630C>G (p.Pro2210=)
c.5823C>G (p.Pro1941=)
c.2124C>G (p.Pro708=)
c.6210C>G (p.Pro2070=)
c.5574C>G (p.Pro1858=)
c.2364C>G (p.Pro788=)
5g.177293998C>TCA447961535NSD1c.5757C>T (p.Pro1919=)
c.1272C>T (p.Pro424=)
n.6213C>T
n.1046C>T
c.6321C>T (p.Pro2107=)
n.6027C>T
c.6630C>T (p.Pro2210=)
c.5823C>T (p.Pro1941=)
c.2124C>T (p.Pro708=)
c.6210C>T (p.Pro2070=)
c.5574C>T (p.Pro1858=)
c.2364C>T (p.Pro788=)
5g.177293999A>CCA362324475NSD1c.5758A>C (p.Asn1920His)
c.1273A>C (p.Asn425His)
n.6214A>C
n.1047A>C
c.6322A>C (p.Asn2108His)
n.6028A>C
c.6631A>C (p.Asn2211His)
c.5824A>C (p.Asn1942His)
c.2125A>C (p.Asn709His)
c.6211A>C (p.Asn2071His)
c.5575A>C (p.Asn1859His)
c.2365A>C (p.Asn789His)
5g.177293999A>GCA362324478NSD1c.5758A>G (p.Asn1920Asp)
c.1273A>G (p.Asn425Asp)
n.6214A>G
n.1047A>G
c.6322A>G (p.Asn2108Asp)
n.6028A>G
c.6631A>G (p.Asn2211Asp)
c.5824A>G (p.Asn1942Asp)
c.2125A>G (p.Asn709Asp)
c.6211A>G (p.Asn2071Asp)
c.5575A>G (p.Asn1859Asp)
c.2365A>G (p.Asn789Asp)
5g.177293999A>TCA362324480NSD1c.5758A>T (p.Asn1920Tyr)
c.1273A>T (p.Asn425Tyr)
n.6214A>T
n.1047A>T
c.6322A>T (p.Asn2108Tyr)
n.6028A>T
c.6631A>T (p.Asn2211Tyr)
c.5824A>T (p.Asn1942Tyr)
c.2125A>T (p.Asn709Tyr)
c.6211A>T (p.Asn2071Tyr)
c.5575A>T (p.Asn1859Tyr)
c.2365A>T (p.Asn789Tyr)
5g.177294000A>CCA362324490NSD1c.5759A>C (p.Asn1920Thr)
c.1274A>C (p.Asn425Thr)
n.6215A>C
n.1048A>C
c.6323A>C (p.Asn2108Thr)
n.6029A>C
c.6632A>C (p.Asn2211Thr)
c.5825A>C (p.Asn1942Thr)
c.2126A>C (p.Asn709Thr)
c.6212A>C (p.Asn2071Thr)
c.5576A>C (p.Asn1859Thr)
c.2366A>C (p.Asn789Thr)
5g.177294000A>GCA362324486NSD1c.5759A>G (p.Asn1920Ser)
c.1274A>G (p.Asn425Ser)
n.6215A>G
n.1048A>G
c.6323A>G (p.Asn2108Ser)
n.6029A>G
c.6632A>G (p.Asn2211Ser)
c.5825A>G (p.Asn1942Ser)
c.2126A>G (p.Asn709Ser)
c.6212A>G (p.Asn2071Ser)
c.5576A>G (p.Asn1859Ser)
c.2366A>G (p.Asn789Ser)
 ClinVar dbSNP gnomAD v4
5g.177294000A>TCA362324484NSD1c.5759A>T (p.Asn1920Ile)
c.1274A>T (p.Asn425Ile)
n.6215A>T
n.1048A>T
c.6323A>T (p.Asn2108Ile)
n.6029A>T
c.6632A>T (p.Asn2211Ile)
c.5825A>T (p.Asn1942Ile)
c.2126A>T (p.Asn709Ile)
c.6212A>T (p.Asn2071Ile)
c.5576A>T (p.Asn1859Ile)
c.2366A>T (p.Asn789Ile)
 gnomAD v4
5g.177294001T>ACA362324494NSD1c.5760T>A (p.Asn1920Lys)
c.1275T>A (p.Asn425Lys)
n.6216T>A
n.1049T>A
c.6324T>A (p.Asn2108Lys)
n.6030T>A
c.6633T>A (p.Asn2211Lys)
c.5826T>A (p.Asn1942Lys)
c.2127T>A (p.Asn709Lys)
c.6213T>A (p.Asn2071Lys)
c.5577T>A (p.Asn1859Lys)
c.2367T>A (p.Asn789Lys)
5g.177294001T>CCA447961582NSD1c.5760T>C (p.Asn1920=)
c.1275T>C (p.Asn425=)
n.6216T>C
n.1049T>C
c.6324T>C (p.Asn2108=)
n.6030T>C
c.6633T>C (p.Asn2211=)
c.5826T>C (p.Asn1942=)
c.2127T>C (p.Asn709=)
c.6213T>C (p.Asn2071=)
c.5577T>C (p.Asn1859=)
c.2367T>C (p.Asn789=)
5g.177294001T>GCA362324496NSD1c.5760T>G (p.Asn1920Lys)
c.1275T>G (p.Asn425Lys)
n.6216T>G
n.1049T>G
c.6324T>G (p.Asn2108Lys)
n.6030T>G
c.6633T>G (p.Asn2211Lys)
c.5826T>G (p.Asn1942Lys)
c.2127T>G (p.Asn709Lys)
c.6213T>G (p.Asn2071Lys)
c.5577T>G (p.Asn1859Lys)
c.2367T>G (p.Asn789Lys)
5g.177294002C>ACA362324499NSD1c.5761C>A (p.Pro1921Thr)
c.1276C>A (p.Pro426Thr)
n.6217C>A
n.1050C>A
c.6325C>A (p.Pro2109Thr)
n.6031C>A
c.6634C>A (p.Pro2212Thr)
c.5827C>A (p.Pro1943Thr)
c.2128C>A (p.Pro710Thr)
c.6214C>A (p.Pro2072Thr)
c.5578C>A (p.Pro1860Thr)
c.2368C>A (p.Pro790Thr)
5g.177294002C>GCA362324502NSD1c.5761C>G (p.Pro1921Ala)
c.1276C>G (p.Pro426Ala)
n.6217C>G
n.1050C>G
c.6325C>G (p.Pro2109Ala)
n.6031C>G
c.6634C>G (p.Pro2212Ala)
c.5827C>G (p.Pro1943Ala)
c.2128C>G (p.Pro710Ala)
c.6214C>G (p.Pro2072Ala)
c.5578C>G (p.Pro1860Ala)
c.2368C>G (p.Pro790Ala)
5g.177294002C>TCA362324506NSD1c.5761C>T (p.Pro1921Ser)
c.1276C>T (p.Pro426Ser)
n.6217C>T
n.1050C>T
c.6325C>T (p.Pro2109Ser)
n.6031C>T
c.6634C>T (p.Pro2212Ser)
c.5827C>T (p.Pro1943Ser)
c.2128C>T (p.Pro710Ser)
c.6214C>T (p.Pro2072Ser)
c.5578C>T (p.Pro1860Ser)
c.2368C>T (p.Pro790Ser)
 ClinVar
5g.177294003C>ACA362324516NSD1c.5762C>A (p.Pro1921His)
c.1277C>A (p.Pro426His)
n.6218C>A
n.1051C>A
c.6326C>A (p.Pro2109His)
n.6032C>A
c.6635C>A (p.Pro2212His)
c.5828C>A (p.Pro1943His)
c.2129C>A (p.Pro710His)
c.6215C>A (p.Pro2072His)
c.5579C>A (p.Pro1860His)
c.2369C>A (p.Pro790His)
 dbSNP
5g.177294003C>GCA362324513NSD1c.5762C>G (p.Pro1921Arg)
c.1277C>G (p.Pro426Arg)
n.6218C>G
n.1051C>G
c.6326C>G (p.Pro2109Arg)
n.6032C>G
c.6635C>G (p.Pro2212Arg)
c.5828C>G (p.Pro1943Arg)
c.2129C>G (p.Pro710Arg)
c.6215C>G (p.Pro2072Arg)
c.5579C>G (p.Pro1860Arg)
c.2369C>G (p.Pro790Arg)
5g.177294003C>TCA362324511NSD1c.5762C>T (p.Pro1921Leu)
c.1277C>T (p.Pro426Leu)
n.6218C>T
n.1051C>T
c.6326C>T (p.Pro2109Leu)
n.6032C>T
c.6635C>T (p.Pro2212Leu)
c.5828C>T (p.Pro1943Leu)
c.2129C>T (p.Pro710Leu)
c.6215C>T (p.Pro2072Leu)
c.5579C>T (p.Pro1860Leu)
c.2369C>T (p.Pro790Leu)
 COSMIC COSMIC
5g.177294004T>ACA447961584NSD1c.5763T>A (p.Pro1921=)
c.1278T>A (p.Pro426=)
n.6219T>A
n.1052T>A
c.6327T>A (p.Pro2109=)
n.6033T>A
c.6636T>A (p.Pro2212=)
c.5829T>A (p.Pro1943=)
c.2130T>A (p.Pro710=)
c.6216T>A (p.Pro2072=)
c.5580T>A (p.Pro1860=)
c.2370T>A (p.Pro790=)
5g.177294004T>CCA3578022NSD1c.5763T>C (p.Pro1921=)
c.1278T>C (p.Pro426=)
n.6219T>C
n.1052T>C
c.6327T>C (p.Pro2109=)
n.6033T>C
c.6636T>C (p.Pro2212=)
c.5829T>C (p.Pro1943=)
c.2130T>C (p.Pro710=)
c.6216T>C (p.Pro2072=)
c.5580T>C (p.Pro1860=)
c.2370T>C (p.Pro790=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294004T>GCA447961585NSD1c.5763T>G (p.Pro1921=)
c.1278T>G (p.Pro426=)
n.6219T>G
n.1052T>G
c.6327T>G (p.Pro2109=)
n.6033T>G
c.6636T>G (p.Pro2212=)
c.5829T>G (p.Pro1943=)
c.2130T>G (p.Pro710=)
c.6216T>G (p.Pro2072=)
c.5580T>G (p.Pro1860=)
c.2370T>G (p.Pro790=)
5g.177294004T=CA1603535585NSD1c.5763T= (p.Pro1921=)
c.1278T= (p.Pro426=)
n.6219T=
n.1052T=
c.6327T= (p.Pro2109=)
n.6033T=
c.6636T= (p.Pro2212=)
c.5829T= (p.Pro1943=)
c.2130T= (p.Pro710=)
c.6216T= (p.Pro2072=)
c.5580T= (p.Pro1860=)
c.2370T= (p.Pro790=)
5g.177294005C>ACA362324522NSD1c.5764C>A (p.Leu1922Met)
c.1279C>A (p.Leu427Met)
n.6220C>A
n.1053C>A
c.6328C>A (p.Leu2110Met)
n.6034C>A
c.6637C>A (p.Leu2213Met)
c.5830C>A (p.Leu1944Met)
c.2131C>A (p.Leu711Met)
c.6217C>A (p.Leu2073Met)
c.5581C>A (p.Leu1861Met)
c.2371C>A (p.Leu791Met)
5g.177294005C=CA1603535591NSD1c.5764C= (p.Leu1922=)
c.1279C= (p.Leu427=)
n.6220C=
n.1053C=
c.6328C= (p.Leu2110=)
n.6034C=
c.6637C= (p.Leu2213=)
c.5830C= (p.Leu1944=)
c.2131C= (p.Leu711=)
c.6217C= (p.Leu2073=)
c.5581C= (p.Leu1861=)
c.2371C= (p.Leu791=)
5g.177294005C>GCA295111NSD1c.5764C>G (p.Leu1922Val)
c.1279C>G (p.Leu427Val)
n.6220C>G
n.1053C>G
c.6328C>G (p.Leu2110Val)
n.6034C>G
c.6637C>G (p.Leu2213Val)
c.5830C>G (p.Leu1944Val)
c.2131C>G (p.Leu711Val)
c.6217C>G (p.Leu2073Val)
c.5581C>G (p.Leu1861Val)
c.2371C>G (p.Leu791Val)
 ClinVar dbSNP
5g.177294005C>TCA447961589NSD1c.5764C>T (p.Leu1922=)
c.1279C>T (p.Leu427=)
n.6220C>T
n.1053C>T
c.6328C>T (p.Leu2110=)
n.6034C>T
c.6637C>T (p.Leu2213=)
c.5830C>T (p.Leu1944=)
c.2131C>T (p.Leu711=)
c.6217C>T (p.Leu2073=)
c.5581C>T (p.Leu1861=)
c.2371C>T (p.Leu791=)
5g.177294006T>ACA362324528NSD1c.5765T>A (p.Leu1922Gln)
c.1280T>A (p.Leu427Gln)
n.6221T>A
n.1054T>A
c.6329T>A (p.Leu2110Gln)
n.6035T>A
c.6638T>A (p.Leu2213Gln)
c.5831T>A (p.Leu1944Gln)
c.2132T>A (p.Leu711Gln)
c.6218T>A (p.Leu2073Gln)
c.5582T>A (p.Leu1861Gln)
c.2372T>A (p.Leu791Gln)
5g.177294006T>CCA362324530NSD1c.5765T>C (p.Leu1922Pro)
c.1280T>C (p.Leu427Pro)
n.6221T>C
n.1054T>C
c.6329T>C (p.Leu2110Pro)
n.6035T>C
c.6638T>C (p.Leu2213Pro)
c.5831T>C (p.Leu1944Pro)
c.2132T>C (p.Leu711Pro)
c.6218T>C (p.Leu2073Pro)
c.5582T>C (p.Leu1861Pro)
c.2372T>C (p.Leu791Pro)
5g.177294006T>GCA362324534NSD1c.5765T>G (p.Leu1922Arg)
c.1280T>G (p.Leu427Arg)
n.6221T>G
n.1054T>G
c.6329T>G (p.Leu2110Arg)
n.6035T>G
c.6638T>G (p.Leu2213Arg)
c.5831T>G (p.Leu1944Arg)
c.2132T>G (p.Leu711Arg)
c.6218T>G (p.Leu2073Arg)
c.5582T>G (p.Leu1861Arg)
c.2372T>G (p.Leu791Arg)
5g.177294006_177294007delCA2695195477NSD1c.5765_5766del (p.Leu1922ArgfsTer7)
c.1280_1281del (p.Leu427ArgfsTer7)
n.6221_6222del
n.1054_1055del
c.6329_6330del (p.Leu2110ArgfsTer7)
n.6035_6036del
c.6638_6639del (p.Leu2213ArgfsTer7)
c.5831_5832del (p.Leu1944ArgfsTer7)
c.2132_2133del (p.Leu711ArgfsTer7)
c.6218_6219del (p.Leu2073ArgfsTer7)
c.5582_5583del (p.Leu1861ArgfsTer7)
c.2372_2373del (p.Leu791ArgfsTer7)
5g.177294007G>ACA447961591NSD1c.5766G>A (p.Leu1922=)
c.1281G>A (p.Leu427=)
n.6222G>A
n.1055G>A
c.6330G>A (p.Leu2110=)
n.6036G>A
c.6639G>A (p.Leu2213=)
c.5832G>A (p.Leu1944=)
c.2133G>A (p.Leu711=)
c.6219G>A (p.Leu2073=)
c.5583G>A (p.Leu1861=)
c.2373G>A (p.Leu791=)
5g.177294007G>CCA447961592NSD1c.5766G>C (p.Leu1922=)
c.1281G>C (p.Leu427=)
n.6222G>C
n.1055G>C
c.6330G>C (p.Leu2110=)
n.6036G>C
c.6639G>C (p.Leu2213=)
c.5832G>C (p.Leu1944=)
c.2133G>C (p.Leu711=)
c.6219G>C (p.Leu2073=)
c.5583G>C (p.Leu1861=)
c.2373G>C (p.Leu791=)
5g.177294007G>TCA447961594NSD1c.5766G>T (p.Leu1922=)
c.1281G>T (p.Leu427=)
n.6222G>T
n.1055G>T
c.6330G>T (p.Leu2110=)
n.6036G>T
c.6639G>T (p.Leu2213=)
c.5832G>T (p.Leu1944=)
c.2133G>T (p.Leu711=)
c.6219G>T (p.Leu2073=)
c.5583G>T (p.Leu1861=)
c.2373G>T (p.Leu791=)
5g.177294008G>ACA295114NSD1c.5767G>A (p.Glu1923Lys)
c.1282G>A (p.Glu428Lys)
n.6223G>A
n.1056G>A
c.6331G>A (p.Glu2111Lys)
n.6037G>A
c.6640G>A (p.Glu2214Lys)
c.5833G>A (p.Glu1945Lys)
c.2134G>A (p.Glu712Lys)
c.6220G>A (p.Glu2074Lys)
c.5584G>A (p.Glu1862Lys)
c.2374G>A (p.Glu792Lys)
 ClinVar dbSNP
5g.177294008G>CCA362324540NSD1c.5767G>C (p.Glu1923Gln)
c.1282G>C (p.Glu428Gln)
n.6223G>C
n.1056G>C
c.6331G>C (p.Glu2111Gln)
n.6037G>C
c.6640G>C (p.Glu2214Gln)
c.5833G>C (p.Glu1945Gln)
c.2134G>C (p.Glu712Gln)
c.6220G>C (p.Glu2074Gln)
c.5584G>C (p.Glu1862Gln)
c.2374G>C (p.Glu792Gln)
 dbSNP
5g.177294008G=CA1603535597NSD1c.5767G= (p.Glu1923=)
c.1282G= (p.Glu428=)
n.6223G=
n.1056G=
c.6331G= (p.Glu2111=)
n.6037G=
c.6640G= (p.Glu2214=)
c.5833G= (p.Glu1945=)
c.2134G= (p.Glu712=)
c.6220G= (p.Glu2074=)
c.5584G= (p.Glu1862=)
c.2374G= (p.Glu792=)
5g.177294008G>TCA362324539NSD1c.5767G>T (p.Glu1923Ter)
c.1282G>T (p.Glu428Ter)
n.6223G>T
n.1056G>T
c.6331G>T (p.Glu2111Ter)
n.6037G>T
c.6640G>T (p.Glu2214Ter)
c.5833G>T (p.Glu1945Ter)
c.2134G>T (p.Glu712Ter)
c.6220G>T (p.Glu2074Ter)
c.5584G>T (p.Glu1862Ter)
c.2374G>T (p.Glu792Ter)
5g.177294009A>CCA362324544NSD1c.5768A>C (p.Glu1923Ala)
c.1283A>C (p.Glu428Ala)
n.6224A>C
n.1057A>C
c.6332A>C (p.Glu2111Ala)
n.6038A>C
c.6641A>C (p.Glu2214Ala)
c.5834A>C (p.Glu1945Ala)
c.2135A>C (p.Glu712Ala)
c.6221A>C (p.Glu2074Ala)
c.5585A>C (p.Glu1862Ala)
c.2375A>C (p.Glu792Ala)
5g.177294009A>GCA362324547NSD1c.5768A>G (p.Glu1923Gly)
c.1283A>G (p.Glu428Gly)
n.6224A>G
n.1057A>G
c.6332A>G (p.Glu2111Gly)
n.6038A>G
c.6641A>G (p.Glu2214Gly)
c.5834A>G (p.Glu1945Gly)
c.2135A>G (p.Glu712Gly)
c.6221A>G (p.Glu2074Gly)
c.5585A>G (p.Glu1862Gly)
c.2375A>G (p.Glu792Gly)
5g.177294009A>TCA362324551NSD1c.5768A>T (p.Glu1923Val)
c.1283A>T (p.Glu428Val)
n.6224A>T
n.1057A>T
c.6332A>T (p.Glu2111Val)
n.6038A>T
c.6641A>T (p.Glu2214Val)
c.5834A>T (p.Glu1945Val)
c.2135A>T (p.Glu712Val)
c.6221A>T (p.Glu2074Val)
c.5585A>T (p.Glu1862Val)
c.2375A>T (p.Glu792Val)
5g.177294010A>CCA362324555NSD1c.5769A>C (p.Glu1923Asp)
c.1284A>C (p.Glu428Asp)
n.6225A>C
n.1058A>C
c.6333A>C (p.Glu2111Asp)
n.6039A>C
c.6642A>C (p.Glu2214Asp)
c.5835A>C (p.Glu1945Asp)
c.2136A>C (p.Glu712Asp)
c.6222A>C (p.Glu2074Asp)
c.5586A>C (p.Glu1862Asp)
c.2376A>C (p.Glu792Asp)
5g.177294010A>GCA447961597NSD1c.5769A>G (p.Glu1923=)
c.1284A>G (p.Glu428=)
n.6225A>G
n.1058A>G
c.6333A>G (p.Glu2111=)
n.6039A>G
c.6642A>G (p.Glu2214=)
c.5835A>G (p.Glu1945=)
c.2136A>G (p.Glu712=)
c.6222A>G (p.Glu2074=)
c.5586A>G (p.Glu1862=)
c.2376A>G (p.Glu792=)
5g.177294010A>TCA362324557NSD1c.5769A>T (p.Glu1923Asp)
c.1284A>T (p.Glu428Asp)
n.6225A>T
n.1058A>T
c.6333A>T (p.Glu2111Asp)
n.6039A>T
c.6642A>T (p.Glu2214Asp)
c.5835A>T (p.Glu1945Asp)
c.2136A>T (p.Glu712Asp)
c.6222A>T (p.Glu2074Asp)
c.5586A>T (p.Glu1862Asp)
c.2376A>T (p.Glu792Asp)
5g.177294010_177294012delinsACCCA1603535603NSD1c.5769_5771delinsACC (p.Glu1923=)
c.1284_1286delinsACC (p.Glu428=)
n.6225_6227delinsACC
n.1058_1060delinsACC
c.6333_6335delinsACC (p.Glu2111=)
n.6039_6041delinsACC
c.6642_6644delinsACC (p.Glu2214=)
c.5835_5837delinsACC (p.Glu1945=)
c.2136_2138delinsACC (p.Glu712=)
c.6222_6224delinsACC (p.Glu2074=)
c.5586_5588delinsACC (p.Glu1862=)
c.2376_2378delinsACC (p.Glu792=)
5g.177294011C>ACA362324562NSD1c.5770C>A (p.Pro1924Thr)
c.1285C>A (p.Pro429Thr)
n.6226C>A
n.1059C>A
c.6334C>A (p.Pro2112Thr)
n.6040C>A
c.6643C>A (p.Pro2215Thr)
c.5836C>A (p.Pro1946Thr)
c.2137C>A (p.Pro713Thr)
c.6223C>A (p.Pro2075Thr)
c.5587C>A (p.Pro1863Thr)
c.2377C>A (p.Pro793Thr)
5g.177294011C>GCA362324566NSD1c.5770C>G (p.Pro1924Ala)
c.1285C>G (p.Pro429Ala)
n.6226C>G
n.1059C>G
c.6334C>G (p.Pro2112Ala)
n.6040C>G
c.6643C>G (p.Pro2215Ala)
c.5836C>G (p.Pro1946Ala)
c.2137C>G (p.Pro713Ala)
c.6223C>G (p.Pro2075Ala)
c.5587C>G (p.Pro1863Ala)
c.2377C>G (p.Pro793Ala)
5g.177294011C>TCA362324568NSD1c.5770C>T (p.Pro1924Ser)
c.1285C>T (p.Pro429Ser)
n.6226C>T
n.1059C>T
c.6334C>T (p.Pro2112Ser)
n.6040C>T
c.6643C>T (p.Pro2215Ser)
c.5836C>T (p.Pro1946Ser)
c.2137C>T (p.Pro713Ser)
c.6223C>T (p.Pro2075Ser)
c.5587C>T (p.Pro1863Ser)
c.2377C>T (p.Pro793Ser)
 dbSNP
5g.177294011_177294012delinsGATCA658796688NSD1c.5770_5771delinsGAT (p.Pro1924AspfsTer6)
c.1285_1286delinsGAT (p.Pro429AspfsTer6)
n.6226_6227delinsGAT
n.1059_1060delinsGAT
c.6334_6335delinsGAT (p.Pro2112AspfsTer6)
n.6040_6041delinsGAT
c.6643_6644delinsGAT (p.Pro2215AspfsTer6)
c.5836_5837delinsGAT (p.Pro1946AspfsTer6)
c.2137_2138delinsGAT (p.Pro713AspfsTer6)
c.6223_6224delinsGAT (p.Pro2075AspfsTer6)
c.5587_5588delinsGAT (p.Pro1863AspfsTer6)
c.2377_2378delinsGAT (p.Pro793AspfsTer6)
 ClinVar dbSNP
5g.177294012C>ACA362324573NSD1c.5771C>A (p.Pro1924His)
c.1286C>A (p.Pro429His)
n.6227C>A
n.1060C>A
c.6335C>A (p.Pro2112His)
n.6041C>A
c.6644C>A (p.Pro2215His)
c.5837C>A (p.Pro1946His)
c.2138C>A (p.Pro713His)
c.6224C>A (p.Pro2075His)
c.5588C>A (p.Pro1863His)
c.2378C>A (p.Pro793His)
5g.177294012C>GCA362324575NSD1c.5771C>G (p.Pro1924Arg)
c.1286C>G (p.Pro429Arg)
n.6227C>G
n.1060C>G
c.6335C>G (p.Pro2112Arg)
n.6041C>G
c.6644C>G (p.Pro2215Arg)
c.5837C>G (p.Pro1946Arg)
c.2138C>G (p.Pro713Arg)
c.6224C>G (p.Pro2075Arg)
c.5588C>G (p.Pro1863Arg)
c.2378C>G (p.Pro793Arg)
5g.177294012C>TCA362324577NSD1c.5771C>T (p.Pro1924Leu)
c.1286C>T (p.Pro429Leu)
n.6227C>T
n.1060C>T
c.6335C>T (p.Pro2112Leu)
n.6041C>T
c.6644C>T (p.Pro2215Leu)
c.5837C>T (p.Pro1946Leu)
c.2138C>T (p.Pro713Leu)
c.6224C>T (p.Pro2075Leu)
c.5588C>T (p.Pro1863Leu)
c.2378C>T (p.Pro793Leu)
5g.177294013T>ACA447961600NSD1c.5772T>A (p.Pro1924=)
c.1287T>A (p.Pro429=)
n.6228T>A
n.1061T>A
c.6336T>A (p.Pro2112=)
n.6042T>A
c.6645T>A (p.Pro2215=)
c.5838T>A (p.Pro1946=)
c.2139T>A (p.Pro713=)
c.6225T>A (p.Pro2075=)
c.5589T>A (p.Pro1863=)
c.2379T>A (p.Pro793=)
5g.177294013T>CCA447961601NSD1c.5772T>C (p.Pro1924=)
c.1287T>C (p.Pro429=)
n.6228T>C
n.1061T>C
c.6336T>C (p.Pro2112=)
n.6042T>C
c.6645T>C (p.Pro2215=)
c.5838T>C (p.Pro1946=)
c.2139T>C (p.Pro713=)
c.6225T>C (p.Pro2075=)
c.5589T>C (p.Pro1863=)
c.2379T>C (p.Pro793=)
5g.177294013T>GCA447961603NSD1c.5772T>G (p.Pro1924=)
c.1287T>G (p.Pro429=)
n.6228T>G
n.1061T>G
c.6336T>G (p.Pro2112=)
n.6042T>G
c.6645T>G (p.Pro2215=)
c.5838T>G (p.Pro1946=)
c.2139T>G (p.Pro713=)
c.6225T>G (p.Pro2075=)
c.5589T>G (p.Pro1863=)
c.2379T>G (p.Pro793=)
5g.177294014G>ACA362324583NSD1c.5773G>A (p.Gly1925Arg)
c.1288G>A (p.Gly430Arg)
n.6229G>A
n.1062G>A
c.6337G>A (p.Gly2113Arg)
n.6043G>A
c.6646G>A (p.Gly2216Arg)
c.5839G>A (p.Gly1947Arg)
c.2140G>A (p.Gly714Arg)
c.6226G>A (p.Gly2076Arg)
c.5590G>A (p.Gly1864Arg)
c.2380G>A (p.Gly794Arg)
5g.177294014G>CCA362324589NSD1c.5773G>C (p.Gly1925Arg)
c.1288G>C (p.Gly430Arg)
n.6229G>C
n.1062G>C
c.6337G>C (p.Gly2113Arg)
n.6043G>C
c.6646G>C (p.Gly2216Arg)
c.5839G>C (p.Gly1947Arg)
c.2140G>C (p.Gly714Arg)
c.6226G>C (p.Gly2076Arg)
c.5590G>C (p.Gly1864Arg)
c.2380G>C (p.Gly794Arg)
5g.177294014G>TCA362324585NSD1c.5773G>T (p.Gly1925Trp)
c.1288G>T (p.Gly430Trp)
n.6229G>T
n.1062G>T
c.6337G>T (p.Gly2113Trp)
n.6043G>T
c.6646G>T (p.Gly2216Trp)
c.5839G>T (p.Gly1947Trp)
c.2140G>T (p.Gly714Trp)
c.6226G>T (p.Gly2076Trp)
c.5590G>T (p.Gly1864Trp)
c.2380G>T (p.Gly794Trp)
5g.177294015G>ACA362324593NSD1c.5774G>A (p.Gly1925Glu)
c.1289G>A (p.Gly430Glu)
n.6230G>A
n.1063G>A
c.6338G>A (p.Gly2113Glu)
n.6044G>A
c.6647G>A (p.Gly2216Glu)
c.5840G>A (p.Gly1947Glu)
c.2141G>A (p.Gly714Glu)
c.6227G>A (p.Gly2076Glu)
c.5591G>A (p.Gly1864Glu)
c.2381G>A (p.Gly794Glu)
 ClinVar dbSNP
5g.177294015G>CCA362324608NSD1c.5774G>C (p.Gly1925Ala)
c.1289G>C (p.Gly430Ala)
n.6230G>C
n.1063G>C
c.6338G>C (p.Gly2113Ala)
n.6044G>C
c.6647G>C (p.Gly2216Ala)
c.5840G>C (p.Gly1947Ala)
c.2141G>C (p.Gly714Ala)
c.6227G>C (p.Gly2076Ala)
c.5591G>C (p.Gly1864Ala)
c.2381G>C (p.Gly794Ala)
5g.177294015G=CA1603535611NSD1c.5774G= (p.Gly1925=)
c.1289G= (p.Gly430=)
n.6230G=
n.1063G=
c.6338G= (p.Gly2113=)
n.6044G=
c.6647G= (p.Gly2216=)
c.5840G= (p.Gly1947=)
c.2141G= (p.Gly714=)
c.6227G= (p.Gly2076=)
c.5591G= (p.Gly1864=)
c.2381G= (p.Gly794=)
5g.177294015G>TCA362324606NSD1c.5774G>T (p.Gly1925Val)
c.1289G>T (p.Gly430Val)
n.6230G>T
n.1063G>T
c.6338G>T (p.Gly2113Val)
n.6044G>T
c.6647G>T (p.Gly2216Val)
c.5840G>T (p.Gly1947Val)
c.2141G>T (p.Gly714Val)
c.6227G>T (p.Gly2076Val)
c.5591G>T (p.Gly1864Val)
c.2381G>T (p.Gly794Val)
5g.177294016G>ACA447961604NSD1c.5775G>A (p.Gly1925=)
c.1290G>A (p.Gly430=)
n.6231G>A
n.1064G>A
c.6339G>A (p.Gly2113=)
n.6045G>A
c.6648G>A (p.Gly2216=)
c.5841G>A (p.Gly1947=)
c.2142G>A (p.Gly714=)
c.6228G>A (p.Gly2076=)
c.5592G>A (p.Gly1864=)
c.2382G>A (p.Gly794=)
5g.177294016G>CCA447961606NSD1c.5775G>C (p.Gly1925=)
c.1290G>C (p.Gly430=)
n.6231G>C
n.1064G>C
c.6339G>C (p.Gly2113=)
n.6045G>C
c.6648G>C (p.Gly2216=)
c.5841G>C (p.Gly1947=)
c.2142G>C (p.Gly714=)
c.6228G>C (p.Gly2076=)
c.5592G>C (p.Gly1864=)
c.2382G>C (p.Gly794=)
5g.177294016G=CA1603535617NSD1c.5775G= (p.Gly1925=)
c.1290G= (p.Gly430=)
n.6231G=
n.1064G=
c.6339G= (p.Gly2113=)
n.6045G=
c.6648G= (p.Gly2216=)
c.5841G= (p.Gly1947=)
c.2142G= (p.Gly714=)
c.6228G= (p.Gly2076=)
c.5592G= (p.Gly1864=)
c.2382G= (p.Gly794=)
5g.177294016G>TCA3578023NSD1c.5775G>T (p.Gly1925=)
c.1290G>T (p.Gly430=)
n.6231G>T
n.1064G>T
c.6339G>T (p.Gly2113=)
n.6045G>T
c.6648G>T (p.Gly2216=)
c.5841G>T (p.Gly1947=)
c.2142G>T (p.Gly714=)
c.6228G>T (p.Gly2076=)
c.5592G>T (p.Gly1864=)
c.2382G>T (p.Gly794=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177294017G>ACA362324623NSD1c.5776G>A (p.Glu1926Lys)
c.1291G>A (p.Glu431Lys)
n.6232G>A
n.1065G>A
c.6340G>A (p.Glu2114Lys)
n.6046G>A
c.6649G>A (p.Glu2217Lys)
c.5842G>A (p.Glu1948Lys)
c.2143G>A (p.Glu715Lys)
c.6229G>A (p.Glu2077Lys)
c.5593G>A (p.Glu1865Lys)
c.2383G>A (p.Glu795Lys)
 COSMIC COSMIC
5g.177294017G>CCA362324616NSD1c.5776G>C (p.Glu1926Gln)
c.1291G>C (p.Glu431Gln)
n.6232G>C
n.1065G>C
c.6340G>C (p.Glu2114Gln)
n.6046G>C
c.6649G>C (p.Glu2217Gln)
c.5842G>C (p.Glu1948Gln)
c.2143G>C (p.Glu715Gln)
c.6229G>C (p.Glu2077Gln)
c.5593G>C (p.Glu1865Gln)
c.2383G>C (p.Glu795Gln)
5g.177294017G>TCA362324621NSD1c.5776G>T (p.Glu1926Ter)
c.1291G>T (p.Glu431Ter)
n.6232G>T
n.1065G>T
c.6340G>T (p.Glu2114Ter)
n.6046G>T
c.6649G>T (p.Glu2217Ter)
c.5842G>T (p.Glu1948Ter)
c.2143G>T (p.Glu715Ter)
c.6229G>T (p.Glu2077Ter)
c.5593G>T (p.Glu1865Ter)
c.2383G>T (p.Glu795Ter)
5g.177294018A>CCA362324628NSD1c.5777A>C (p.Glu1926Ala)
c.1292A>C (p.Glu431Ala)
n.6233A>C
n.1066A>C
c.6341A>C (p.Glu2114Ala)
n.6047A>C
c.6650A>C (p.Glu2217Ala)
c.5843A>C (p.Glu1948Ala)
c.2144A>C (p.Glu715Ala)
c.6230A>C (p.Glu2077Ala)
c.5594A>C (p.Glu1865Ala)
c.2384A>C (p.Glu795Ala)
5g.177294018A>GCA362324630NSD1c.5777A>G (p.Glu1926Gly)
c.1292A>G (p.Glu431Gly)
n.6233A>G
n.1066A>G
c.6341A>G (p.Glu2114Gly)
n.6047A>G
c.6650A>G (p.Glu2217Gly)
c.5843A>G (p.Glu1948Gly)
c.2144A>G (p.Glu715Gly)
c.6230A>G (p.Glu2077Gly)
c.5594A>G (p.Glu1865Gly)
c.2384A>G (p.Glu795Gly)
 dbSNP
5g.177294018A>TCA362324634NSD1c.5777A>T (p.Glu1926Val)
c.1292A>T (p.Glu431Val)
n.6233A>T
n.1066A>T
c.6341A>T (p.Glu2114Val)
n.6047A>T
c.6650A>T (p.Glu2217Val)
c.5843A>T (p.Glu1948Val)
c.2144A>T (p.Glu715Val)
c.6230A>T (p.Glu2077Val)
c.5594A>T (p.Glu1865Val)
c.2384A>T (p.Glu795Val)
5g.177294019G>ACA447961609NSD1c.5778G>A (p.Glu1926=)
c.1293G>A (p.Glu431=)
n.6234G>A
n.1067G>A
c.6342G>A (p.Glu2114=)
n.6048G>A
c.6651G>A (p.Glu2217=)
c.5844G>A (p.Glu1948=)
c.2145G>A (p.Glu715=)
c.6231G>A (p.Glu2077=)
c.5595G>A (p.Glu1865=)
c.2385G>A (p.Glu795=)
 dbSNP
5g.177294019G>CCA362324636NSD1c.5778G>C (p.Glu1926Asp)
c.1293G>C (p.Glu431Asp)
n.6234G>C
n.1067G>C
c.6342G>C (p.Glu2114Asp)
n.6048G>C
c.6651G>C (p.Glu2217Asp)
c.5844G>C (p.Glu1948Asp)
c.2145G>C (p.Glu715Asp)
c.6231G>C (p.Glu2077Asp)
c.5595G>C (p.Glu1865Asp)
c.2385G>C (p.Glu795Asp)
5g.177294019G=CA1603535622NSD1c.5778G= (p.Glu1926=)
c.1293G= (p.Glu431=)
n.6234G=
n.1067G=
c.6342G= (p.Glu2114=)
n.6048G=
c.6651G= (p.Glu2217=)
c.5844G= (p.Glu1948=)
c.2145G= (p.Glu715=)
c.6231G= (p.Glu2077=)
c.5595G= (p.Glu1865=)
c.2385G= (p.Glu795=)
5g.177294019G>TCA362324638NSD1c.5778G>T (p.Glu1926Asp)
c.1293G>T (p.Glu431Asp)
n.6234G>T
n.1067G>T
c.6342G>T (p.Glu2114Asp)
n.6048G>T
c.6651G>T (p.Glu2217Asp)
c.5844G>T (p.Glu1948Asp)
c.2145G>T (p.Glu715Asp)
c.6231G>T (p.Glu2077Asp)
c.5595G>T (p.Glu1865Asp)
c.2385G>T (p.Glu795Asp)
 ClinVar dbSNP COSMIC COSMIC
5g.177294020A>CCA362324655NSD1c.5779A>C (p.Ile1927Leu)
c.1294A>C (p.Ile432Leu)
n.6235A>C
n.1068A>C
c.6343A>C (p.Ile2115Leu)
n.6049A>C
c.6652A>C (p.Ile2218Leu)
c.5845A>C (p.Ile1949Leu)
c.2146A>C (p.Ile716Leu)
c.6232A>C (p.Ile2078Leu)
c.5596A>C (p.Ile1866Leu)
c.2386A>C (p.Ile796Leu)
5g.177294020A>GCA362324657NSD1c.5779A>G (p.Ile1927Val)
c.1294A>G (p.Ile432Val)
n.6235A>G
n.1068A>G
c.6343A>G (p.Ile2115Val)
n.6049A>G
c.6652A>G (p.Ile2218Val)
c.5845A>G (p.Ile1949Val)
c.2146A>G (p.Ile716Val)
c.6232A>G (p.Ile2078Val)
c.5596A>G (p.Ile1866Val)
c.2386A>G (p.Ile796Val)
5g.177294020A>TCA362324665NSD1c.5779A>T (p.Ile1927Phe)
c.1294A>T (p.Ile432Phe)
n.6235A>T
n.1068A>T
c.6343A>T (p.Ile2115Phe)
n.6049A>T
c.6652A>T (p.Ile2218Phe)
c.5845A>T (p.Ile1949Phe)
c.2146A>T (p.Ile716Phe)
c.6232A>T (p.Ile2078Phe)
c.5596A>T (p.Ile1866Phe)
c.2386A>T (p.Ile796Phe)
5g.177294021T>ACA362324668NSD1c.5780T>A (p.Ile1927Asn)
c.1295T>A (p.Ile432Asn)
n.6236T>A
n.1069T>A
c.6344T>A (p.Ile2115Asn)
n.6050T>A
c.6653T>A (p.Ile2218Asn)
c.5846T>A (p.Ile1949Asn)
c.2147T>A (p.Ile716Asn)
c.6233T>A (p.Ile2078Asn)
c.5597T>A (p.Ile1866Asn)
c.2387T>A (p.Ile796Asn)
5g.177294021T>CCA362324671NSD1c.5780T>C (p.Ile1927Thr)
c.1295T>C (p.Ile432Thr)
n.6236T>C
n.1069T>C
c.6344T>C (p.Ile2115Thr)
n.6050T>C
c.6653T>C (p.Ile2218Thr)
c.5846T>C (p.Ile1949Thr)
c.2147T>C (p.Ile716Thr)
c.6233T>C (p.Ile2078Thr)
c.5597T>C (p.Ile1866Thr)
c.2387T>C (p.Ile796Thr)
 COSMIC COSMIC
5g.177294021T>GCA362324675NSD1c.5780T>G (p.Ile1927Ser)
c.1295T>G (p.Ile432Ser)
n.6236T>G
n.1069T>G
c.6344T>G (p.Ile2115Ser)
n.6050T>G
c.6653T>G (p.Ile2218Ser)
c.5846T>G (p.Ile1949Ser)
c.2147T>G (p.Ile716Ser)
c.6233T>G (p.Ile2078Ser)
c.5597T>G (p.Ile1866Ser)
c.2387T>G (p.Ile796Ser)
5g.177294022C>ACA447961616NSD1c.5781C>A (p.Ile1927=)
c.1296C>A (p.Ile432=)
n.6237C>A
n.1070C>A
c.6345C>A (p.Ile2115=)
n.6051C>A
c.6654C>A (p.Ile2218=)
c.5847C>A (p.Ile1949=)
c.2148C>A (p.Ile716=)
c.6234C>A (p.Ile2078=)
c.5598C>A (p.Ile1866=)
c.2388C>A (p.Ile796=)
 dbSNP
5g.177294022C>GCA362324676NSD1c.5781C>G (p.Ile1927Met)
c.1296C>G (p.Ile432Met)
n.6237C>G
n.1070C>G
c.6345C>G (p.Ile2115Met)
n.6051C>G
c.6654C>G (p.Ile2218Met)
c.5847C>G (p.Ile1949Met)
c.2148C>G (p.Ile716Met)
c.6234C>G (p.Ile2078Met)
c.5598C>G (p.Ile1866Met)
c.2388C>G (p.Ile796Met)
 ClinVar dbSNP
5g.177294022C>TCA447961617NSD1c.5781C>T (p.Ile1927=)
c.1296C>T (p.Ile432=)
n.6237C>T
n.1070C>T
c.6345C>T (p.Ile2115=)
n.6051C>T
c.6654C>T (p.Ile2218=)
c.5847C>T (p.Ile1949=)
c.2148C>T (p.Ile716=)
c.6234C>T (p.Ile2078=)
c.5598C>T (p.Ile1866=)
c.2388C>T (p.Ile796=)
 dbSNP COSMIC COSMIC
5g.177294023delCA2499217790NSD1c.5782del (p.Arg1928ValfsTer?)
c.1297del (p.Arg433ValfsTer?)
n.6238del
n.1071del
c.6346del (p.Arg2116ValfsTer?)
n.6052del
c.6655del (p.Arg2219ValfsTer?)
c.5848del (p.Arg1950ValfsTer?)
c.2149del (p.Arg717ValfsTer?)
c.6235del (p.Arg2079ValfsTer?)
c.5599del (p.Arg1867ValfsTer?)
c.2389del (p.Arg797ValfsTer?)
 ClinVar dbSNP
5g.177294023C>ACA362324678NSD1c.5782C>A (p.Arg1928Ser)
c.1297C>A (p.Arg433Ser)
n.6238C>A
n.1071C>A
c.6346C>A (p.Arg2116Ser)
n.6052C>A
c.6655C>A (p.Arg2219Ser)
c.5848C>A (p.Arg1950Ser)
c.2149C>A (p.Arg717Ser)
c.6235C>A (p.Arg2079Ser)
c.5599C>A (p.Arg1867Ser)
c.2389C>A (p.Arg797Ser)
5g.177294023C>GCA362324681NSD1c.5782C>G (p.Arg1928Gly)
c.1297C>G (p.Arg433Gly)
n.6238C>G
n.1071C>G
c.6346C>G (p.Arg2116Gly)
n.6052C>G
c.6655C>G (p.Arg2219Gly)
c.5848C>G (p.Arg1950Gly)
c.2149C>G (p.Arg717Gly)
c.6235C>G (p.Arg2079Gly)
c.5599C>G (p.Arg1867Gly)
c.2389C>G (p.Arg797Gly)
5g.177294023C>TCA362324682NSD1c.5782C>T (p.Arg1928Cys)
c.1297C>T (p.Arg433Cys)
n.6238C>T
n.1071C>T
c.6346C>T (p.Arg2116Cys)
n.6052C>T
c.6655C>T (p.Arg2219Cys)
c.5848C>T (p.Arg1950Cys)
c.2149C>T (p.Arg717Cys)
c.6235C>T (p.Arg2079Cys)
c.5599C>T (p.Arg1867Cys)
c.2389C>T (p.Arg797Cys)
 ClinVar dbSNP
5g.177294024G>ACA295117NSD1c.5783G>A (p.Arg1928His)
c.1298G>A (p.Arg433His)
n.6239G>A
n.1072G>A
c.6347G>A (p.Arg2116His)
n.6053G>A
c.6656G>A (p.Arg2219His)
c.5849G>A (p.Arg1950His)
c.2150G>A (p.Arg717His)
c.6236G>A (p.Arg2079His)
c.5600G>A (p.Arg1867His)
c.2390G>A (p.Arg797His)
 ClinVar dbSNP COSMIC COSMIC
5g.177294024G>CCA362324689NSD1c.5783G>C (p.Arg1928Pro)
c.1298G>C (p.Arg433Pro)
n.6239G>C
n.1072G>C
c.6347G>C (p.Arg2116Pro)
n.6053G>C
c.6656G>C (p.Arg2219Pro)
c.5849G>C (p.Arg1950Pro)
c.2150G>C (p.Arg717Pro)
c.6236G>C (p.Arg2079Pro)
c.5600G>C (p.Arg1867Pro)
c.2390G>C (p.Arg797Pro)
5g.177294024G=CA1603535633NSD1c.5783G= (p.Arg1928=)
c.1298G= (p.Arg433=)
n.6239G=
n.1072G=
c.6347G= (p.Arg2116=)
n.6053G=
c.6656G= (p.Arg2219=)
c.5849G= (p.Arg1950=)
c.2150G= (p.Arg717=)
c.6236G= (p.Arg2079=)
c.5600G= (p.Arg1867=)
c.2390G= (p.Arg797=)
5g.177294024G>TCA362324691NSD1c.5783G>T (p.Arg1928Leu)
c.1298G>T (p.Arg433Leu)
n.6239G>T
n.1072G>T
c.6347G>T (p.Arg2116Leu)
n.6053G>T
c.6656G>T (p.Arg2219Leu)
c.5849G>T (p.Arg1950Leu)
c.2150G>T (p.Arg717Leu)
c.6236G>T (p.Arg2079Leu)
c.5600G>T (p.Arg1867Leu)
c.2390G>T (p.Arg797Leu)
5g.177294025_177294026delCA2676692107NSD1c.5784_5785del (p.Glu1929ValfsTer?)
c.1299_1300del (p.Glu434ValfsTer?)
n.6240_6241del
n.1073_1074del
c.6348_6349del (p.Glu2117ValfsTer?)
n.6054_6055del
c.6657_6658del (p.Glu2220ValfsTer?)
c.5850_5851del (p.Glu1951ValfsTer?)
c.2151_2152del (p.Glu718ValfsTer?)
c.6237_6238del (p.Glu2080ValfsTer?)
c.5601_5602del (p.Glu1868ValfsTer?)
c.2391_2392del (p.Glu798ValfsTer?)
 gnomAD v4
5g.177294025T>ACA447961622NSD1c.5784T>A (p.Arg1928=)
c.1299T>A (p.Arg433=)
n.6240T>A
n.1073T>A
c.6348T>A (p.Arg2116=)
n.6054T>A
c.6657T>A (p.Arg2219=)
c.5850T>A (p.Arg1950=)
c.2151T>A (p.Arg717=)
c.6237T>A (p.Arg2079=)
c.5601T>A (p.Arg1867=)
c.2391T>A (p.Arg797=)
5g.177294025T>CCA447961623NSD1c.5784T>C (p.Arg1928=)
c.1299T>C (p.Arg433=)
n.6240T>C
n.1073T>C
c.6348T>C (p.Arg2116=)
n.6054T>C
c.6657T>C (p.Arg2219=)
c.5850T>C (p.Arg1950=)
c.2151T>C (p.Arg717=)
c.6237T>C (p.Arg2079=)
c.5601T>C (p.Arg1867=)
c.2391T>C (p.Arg797=)
5g.177294025T>GCA447961621NSD1c.5784T>G (p.Arg1928=)
c.1299T>G (p.Arg433=)
n.6240T>G
n.1073T>G
c.6348T>G (p.Arg2116=)
n.6054T>G
c.6657T>G (p.Arg2219=)
c.5850T>G (p.Arg1950=)
c.2151T>G (p.Arg717=)
c.6237T>G (p.Arg2079=)
c.5601T>G (p.Arg1867=)
c.2391T>G (p.Arg797=)
5g.177294026G>ACA362324694NSD1c.5785G>A (p.Glu1929Lys)
c.1300G>A (p.Glu434Lys)
n.6241G>A
n.1074G>A
c.6349G>A (p.Glu2117Lys)
n.6055G>A
c.6658G>A (p.Glu2220Lys)
c.5851G>A (p.Glu1951Lys)
c.2152G>A (p.Glu718Lys)
c.6238G>A (p.Glu2080Lys)
c.5602G>A (p.Glu1868Lys)
c.2392G>A (p.Glu798Lys)
5g.177294026G>CCA362324710NSD1c.5785G>C (p.Glu1929Gln)
c.1300G>C (p.Glu434Gln)
n.6241G>C
n.1074G>C
c.6349G>C (p.Glu2117Gln)
n.6055G>C
c.6658G>C (p.Glu2220Gln)
c.5851G>C (p.Glu1951Gln)
c.2152G>C (p.Glu718Gln)
c.6238G>C (p.Glu2080Gln)
c.5602G>C (p.Glu1868Gln)
c.2392G>C (p.Glu798Gln)
 dbSNP
5g.177294026G>TCA362324714NSD1c.5785G>T (p.Glu1929Ter)
c.1300G>T (p.Glu434Ter)
n.6241G>T
n.1074G>T
c.6349G>T (p.Glu2117Ter)
n.6055G>T
c.6658G>T (p.Glu2220Ter)
c.5851G>T (p.Glu1951Ter)
c.2152G>T (p.Glu718Ter)
c.6238G>T (p.Glu2080Ter)
c.5602G>T (p.Glu1868Ter)
c.2392G>T (p.Glu798Ter)
5g.177294027A>CCA362324722NSD1c.5786A>C (p.Glu1929Ala)
c.1301A>C (p.Glu434Ala)
n.6242A>C
n.1075A>C
c.6350A>C (p.Glu2117Ala)
n.6056A>C
c.6659A>C (p.Glu2220Ala)
c.5852A>C (p.Glu1951Ala)
c.2153A>C (p.Glu718Ala)
c.6239A>C (p.Glu2080Ala)
c.5603A>C (p.Glu1868Ala)
c.2393A>C (p.Glu798Ala)
5g.177294027A>GCA362324724NSD1c.5786A>G (p.Glu1929Gly)
c.1301A>G (p.Glu434Gly)
n.6242A>G
n.1075A>G
c.6350A>G (p.Glu2117Gly)
n.6056A>G
c.6659A>G (p.Glu2220Gly)
c.5852A>G (p.Glu1951Gly)
c.2153A>G (p.Glu718Gly)
c.6239A>G (p.Glu2080Gly)
c.5603A>G (p.Glu1868Gly)
c.2393A>G (p.Glu798Gly)
5g.177294027A>TCA362324736NSD1c.5786A>T (p.Glu1929Val)
c.1301A>T (p.Glu434Val)
n.6242A>T
n.1075A>T
c.6350A>T (p.Glu2117Val)
n.6056A>T
c.6659A>T (p.Glu2220Val)
c.5852A>T (p.Glu1951Val)
c.2153A>T (p.Glu718Val)
c.6239A>T (p.Glu2080Val)
c.5603A>T (p.Glu1868Val)
c.2393A>T (p.Glu798Val)
5g.177294028G>ACA447961627NSD1c.5787G>A (p.Glu1929=)
c.1302G>A (p.Glu434=)
n.6243G>A
n.1076G>A
c.6351G>A (p.Glu2117=)
n.6057G>A
c.6660G>A (p.Glu2220=)
c.5853G>A (p.Glu1951=)
c.2154G>A (p.Glu718=)
c.6240G>A (p.Glu2080=)
c.5604G>A (p.Glu1868=)
c.2394G>A (p.Glu798=)
 dbSNP gnomAD v4
5g.177294028G>CCA362324739NSD1c.5787G>C (p.Glu1929Asp)
c.1302G>C (p.Glu434Asp)
n.6243G>C
n.1076G>C
c.6351G>C (p.Glu2117Asp)
n.6057G>C
c.6660G>C (p.Glu2220Asp)
c.5853G>C (p.Glu1951Asp)
c.2154G>C (p.Glu718Asp)
c.6240G>C (p.Glu2080Asp)
c.5604G>C (p.Glu1868Asp)
c.2394G>C (p.Glu798Asp)
5g.177294028G>TCA362324744NSD1c.5787G>T (p.Glu1929Asp)
c.1302G>T (p.Glu434Asp)
n.6243G>T
n.1076G>T
c.6351G>T (p.Glu2117Asp)
n.6057G>T
c.6660G>T (p.Glu2220Asp)
c.5853G>T (p.Glu1951Asp)
c.2154G>T (p.Glu718Asp)
c.6240G>T (p.Glu2080Asp)
c.5604G>T (p.Glu1868Asp)
c.2394G>T (p.Glu798Asp)
5g.177294029T>ACA362324748NSD1c.5788T>A (p.Tyr1930Asn)
c.1303T>A (p.Tyr435Asn)
n.6244T>A
n.1077T>A
c.6352T>A (p.Tyr2118Asn)
n.6058T>A
c.6661T>A (p.Tyr2221Asn)
c.5854T>A (p.Tyr1952Asn)
c.2155T>A (p.Tyr719Asn)
c.6241T>A (p.Tyr2081Asn)
c.5605T>A (p.Tyr1869Asn)
c.2395T>A (p.Tyr799Asn)
5g.177294029T>CCA362324751NSD1c.5788T>C (p.Tyr1930His)
c.1303T>C (p.Tyr435His)
n.6244T>C
n.1077T>C
c.6352T>C (p.Tyr2118His)
n.6058T>C
c.6661T>C (p.Tyr2221His)
c.5854T>C (p.Tyr1952His)
c.2155T>C (p.Tyr719His)
c.6241T>C (p.Tyr2081His)
c.5605T>C (p.Tyr1869His)
c.2395T>C (p.Tyr799His)
5g.177294029T>GCA362324754NSD1c.5788T>G (p.Tyr1930Asp)
c.1303T>G (p.Tyr435Asp)
n.6244T>G
n.1077T>G
c.6352T>G (p.Tyr2118Asp)
n.6058T>G
c.6661T>G (p.Tyr2221Asp)
c.5854T>G (p.Tyr1952Asp)
c.2155T>G (p.Tyr719Asp)
c.6241T>G (p.Tyr2081Asp)
c.5605T>G (p.Tyr1869Asp)
c.2395T>G (p.Tyr799Asp)
5g.177294030A=CA1603535641NSD1c.5789A= (p.Tyr1930=)
c.1304A= (p.Tyr435=)
n.6245A=
n.1078A=
c.6353A= (p.Tyr2118=)
n.6059A=
c.6662A= (p.Tyr2221=)
c.5855A= (p.Tyr1952=)
c.2156A= (p.Tyr719=)
c.6242A= (p.Tyr2081=)
c.5606A= (p.Tyr1869=)
c.2396A= (p.Tyr799=)
5g.177294030A>CCA362324758NSD1c.5789A>C (p.Tyr1930Ser)
c.1304A>C (p.Tyr435Ser)
n.6245A>C
n.1078A>C
c.6353A>C (p.Tyr2118Ser)
n.6059A>C
c.6662A>C (p.Tyr2221Ser)
c.5855A>C (p.Tyr1952Ser)
c.2156A>C (p.Tyr719Ser)
c.6242A>C (p.Tyr2081Ser)
c.5606A>C (p.Tyr1869Ser)
c.2396A>C (p.Tyr799Ser)
 gnomAD v4
5g.177294030A>GCA362324759NSD1c.5789A>G (p.Tyr1930Cys)
c.1304A>G (p.Tyr435Cys)
n.6245A>G
n.1078A>G
c.6353A>G (p.Tyr2118Cys)
n.6059A>G
c.6662A>G (p.Tyr2221Cys)
c.5855A>G (p.Tyr1952Cys)
c.2156A>G (p.Tyr719Cys)
c.6242A>G (p.Tyr2081Cys)
c.5606A>G (p.Tyr1869Cys)
c.2396A>G (p.Tyr799Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177294030A>TCA362324762NSD1c.5789A>T (p.Tyr1930Phe)
c.1304A>T (p.Tyr435Phe)
n.6245A>T
n.1078A>T
c.6353A>T (p.Tyr2118Phe)
n.6059A>T
c.6662A>T (p.Tyr2221Phe)
c.5855A>T (p.Tyr1952Phe)
c.2156A>T (p.Tyr719Phe)
c.6242A>T (p.Tyr2081Phe)
c.5606A>T (p.Tyr1869Phe)
c.2396A>T (p.Tyr799Phe)
5g.177294031T>ACA362324767NSD1c.5790T>A (p.Tyr1930Ter)
c.1305T>A (p.Tyr435Ter)
n.6246T>A
n.1079T>A
c.6354T>A (p.Tyr2118Ter)
n.6060T>A
c.6663T>A (p.Tyr2221Ter)
c.5856T>A (p.Tyr1952Ter)
c.2157T>A (p.Tyr719Ter)
c.6243T>A (p.Tyr2081Ter)
c.5607T>A (p.Tyr1869Ter)
c.2397T>A (p.Tyr799Ter)
5g.177294031T>CCA447961631NSD1c.5790T>C (p.Tyr1930=)
c.1305T>C (p.Tyr435=)
n.6246T>C
n.1079T>C
c.6354T>C (p.Tyr2118=)
n.6060T>C
c.6663T>C (p.Tyr2221=)
c.5856T>C (p.Tyr1952=)
c.2157T>C (p.Tyr719=)
c.6243T>C (p.Tyr2081=)
c.5607T>C (p.Tyr1869=)
c.2397T>C (p.Tyr799=)
 dbSNP gnomAD v3 gnomAD v4
5g.177294031T>GCA362324773NSD1c.5790T>G (p.Tyr1930Ter)
c.1305T>G (p.Tyr435Ter)
n.6246T>G
n.1079T>G
c.6354T>G (p.Tyr2118Ter)
n.6060T>G
c.6663T>G (p.Tyr2221Ter)
c.5856T>G (p.Tyr1952Ter)
c.2157T>G (p.Tyr719Ter)
c.6243T>G (p.Tyr2081Ter)
c.5607T>G (p.Tyr1869Ter)
c.2397T>G (p.Tyr799Ter)
5g.177294031T=CA1603535644NSD1c.5790T= (p.Tyr1930=)
c.1305T= (p.Tyr435=)
n.6246T=
n.1079T=
c.6354T= (p.Tyr2118=)
n.6060T=
c.6663T= (p.Tyr2221=)
c.5856T= (p.Tyr1952=)
c.2157T= (p.Tyr719=)
c.6243T= (p.Tyr2081=)
c.5607T= (p.Tyr1869=)
c.2397T= (p.Tyr799=)
5g.177294032G>ACA362324777NSD1c.5791G>A (p.Val1931Met)
c.1306G>A (p.Val436Met)
n.6247G>A
n.1080G>A
c.6355G>A (p.Val2119Met)
n.6061G>A
c.6664G>A (p.Val2222Met)
c.5857G>A (p.Val1953Met)
c.2158G>A (p.Val720Met)
c.6244G>A (p.Val2082Met)
c.5608G>A (p.Val1870Met)
c.2398G>A (p.Val800Met)
 dbSNP gnomAD v2
5g.177294032G>CCA362324779NSD1c.5791G>C (p.Val1931Leu)
c.1306G>C (p.Val436Leu)
n.6247G>C
n.1080G>C
c.6355G>C (p.Val2119Leu)
n.6061G>C
c.6664G>C (p.Val2222Leu)
c.5857G>C (p.Val1953Leu)
c.2158G>C (p.Val720Leu)
c.6244G>C (p.Val2082Leu)
c.5608G>C (p.Val1870Leu)
c.2398G>C (p.Val800Leu)
5g.177294032G=CA1603535645NSD1c.5791G= (p.Val1931=)
c.1306G= (p.Val436=)
n.6247G=
n.1080G=
c.6355G= (p.Val2119=)
n.6061G=
c.6664G= (p.Val2222=)
c.5857G= (p.Val1953=)
c.2158G= (p.Val720=)
c.6244G= (p.Val2082=)
c.5608G= (p.Val1870=)
c.2398G= (p.Val800=)
5g.177294032G>TCA362324781NSD1c.5791G>T (p.Val1931Leu)
c.1306G>T (p.Val436Leu)
n.6247G>T
n.1080G>T
c.6355G>T (p.Val2119Leu)
n.6061G>T
c.6664G>T (p.Val2222Leu)
c.5857G>T (p.Val1953Leu)
c.2158G>T (p.Val720Leu)
c.6244G>T (p.Val2082Leu)
c.5608G>T (p.Val1870Leu)
c.2398G>T (p.Val800Leu)
5g.177294033T>ACA362324791NSD1c.5792T>A (p.Val1931Glu)
c.1307T>A (p.Val436Glu)
n.6248T>A
n.1081T>A
c.6356T>A (p.Val2119Glu)
n.6062T>A
c.6665T>A (p.Val2222Glu)
c.5858T>A (p.Val1953Glu)
c.2159T>A (p.Val720Glu)
c.6245T>A (p.Val2082Glu)
c.5609T>A (p.Val1870Glu)
c.2399T>A (p.Val800Glu)
5g.177294033T>CCA362324787NSD1c.5792T>C (p.Val1931Ala)
c.1307T>C (p.Val436Ala)
n.6248T>C
n.1081T>C
c.6356T>C (p.Val2119Ala)
n.6062T>C
c.6665T>C (p.Val2222Ala)
c.5858T>C (p.Val1953Ala)
c.2159T>C (p.Val720Ala)
c.6245T>C (p.Val2082Ala)
c.5609T>C (p.Val1870Ala)
c.2399T>C (p.Val800Ala)
5g.177294033T>GCA362324783NSD1c.5792T>G (p.Val1931Gly)
c.1307T>G (p.Val436Gly)
n.6248T>G
n.1081T>G
c.6356T>G (p.Val2119Gly)
n.6062T>G
c.6665T>G (p.Val2222Gly)
c.5858T>G (p.Val1953Gly)
c.2159T>G (p.Val720Gly)
c.6245T>G (p.Val2082Gly)
c.5609T>G (p.Val1870Gly)
c.2399T>G (p.Val800Gly)
5g.177294040_177294057dupCA645548644NSD1c.5799_5816dup (p.Pro1939_Gly1940insProValProLeuProPro)
c.1314_1331dup (p.Pro444_Gly445insProValProLeuProPro)
n.6255_6272dup
n.1088_1105dup
c.6363_6380dup (p.Pro2127_Gly2128insProValProLeuProPro)
n.6069_6086dup
c.6672_6689dup (p.Pro2230_Gly2231insProValProLeuProPro)
c.5865_5882dup (p.Pro1961_Gly1962insProValProLeuProPro)
c.2166_2183dup (p.Pro728_Gly729insProValProLeuProPro)
c.6252_6269dup (p.Pro2090_Gly2091insProValProLeuProPro)
c.5616_5633dup (p.Pro1878_Gly1879insProValProLeuProPro)
c.2406_2423dup (p.Pro808_Gly809insProValProLeuProPro)
 COSMIC COSMIC
5g.177294034G>ACA447961636NSD1c.5793G>A (p.Val1931=)
c.1308G>A (p.Val436=)
n.6249G>A
n.1082G>A
c.6357G>A (p.Val2119=)
n.6063G>A
c.6666G>A (p.Val2222=)
c.5859G>A (p.Val1953=)
c.2160G>A (p.Val720=)
c.6246G>A (p.Val2082=)
c.5610G>A (p.Val1870=)
c.2400G>A (p.Val800=)
 dbSNP gnomAD v4
5g.177294034G>CCA447961637NSD1c.5793G>C (p.Val1931=)
c.1308G>C (p.Val436=)
n.6249G>C
n.1082G>C
c.6357G>C (p.Val2119=)
n.6063G>C
c.6666G>C (p.Val2222=)
c.5859G>C (p.Val1953=)
c.2160G>C (p.Val720=)
c.6246G>C (p.Val2082=)
c.5610G>C (p.Val1870=)
c.2400G>C (p.Val800=)
5g.177294034G>TCA447961638NSD1c.5793G>T (p.Val1931=)
c.1308G>T (p.Val436=)
n.6249G>T
n.1082G>T
c.6357G>T (p.Val2119=)
n.6063G>T
c.6666G>T (p.Val2222=)
c.5859G>T (p.Val1953=)
c.2160G>T (p.Val720=)
c.6246G>T (p.Val2082=)
c.5610G>T (p.Val1870=)
c.2400G>T (p.Val800=)
5g.177294035C>ACA362324795NSD1c.5794C>A (p.Pro1932Thr)
c.1309C>A (p.Pro437Thr)
n.6250C>A
n.1083C>A
c.6358C>A (p.Pro2120Thr)
n.6064C>A
c.6667C>A (p.Pro2223Thr)
c.5860C>A (p.Pro1954Thr)
c.2161C>A (p.Pro721Thr)
c.6247C>A (p.Pro2083Thr)
c.5611C>A (p.Pro1871Thr)
c.2401C>A (p.Pro801Thr)
5g.177294035C=CA1603535649NSD1c.5794C= (p.Pro1932=)
c.1309C= (p.Pro437=)
n.6250C=
n.1083C=
c.6358C= (p.Pro2120=)
n.6064C=
c.6667C= (p.Pro2223=)
c.5860C= (p.Pro1954=)
c.2161C= (p.Pro721=)
c.6247C= (p.Pro2083=)
c.5611C= (p.Pro1871=)
c.2401C= (p.Pro801=)
5g.177294035C>GCA362324799NSD1c.5794C>G (p.Pro1932Ala)
c.1309C>G (p.Pro437Ala)
n.6250C>G
n.1083C>G
c.6358C>G (p.Pro2120Ala)
n.6064C>G
c.6667C>G (p.Pro2223Ala)
c.5860C>G (p.Pro1954Ala)
c.2161C>G (p.Pro721Ala)
c.6247C>G (p.Pro2083Ala)
c.5611C>G (p.Pro1871Ala)
c.2401C>G (p.Pro801Ala)
5g.177294035C>TCA362324802NSD1c.5794C>T (p.Pro1932Ser)
c.1309C>T (p.Pro437Ser)
n.6250C>T
n.1083C>T
c.6358C>T (p.Pro2120Ser)
n.6064C>T
c.6667C>T (p.Pro2223Ser)
c.5860C>T (p.Pro1954Ser)
c.2161C>T (p.Pro721Ser)
c.6247C>T (p.Pro2083Ser)
c.5611C>T (p.Pro1871Ser)
c.2401C>T (p.Pro801Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177294036C>ACA362324810NSD1c.5795C>A (p.Pro1932His)
c.1310C>A (p.Pro437His)
n.6251C>A
n.1084C>A
c.6359C>A (p.Pro2120His)
n.6065C>A
c.6668C>A (p.Pro2223His)
c.5861C>A (p.Pro1954His)
c.2162C>A (p.Pro721His)
c.6248C>A (p.Pro2083His)
c.5612C>A (p.Pro1871His)
c.2402C>A (p.Pro801His)
 dbSNP
5g.177294036C>GCA362324815NSD1c.5795C>G (p.Pro1932Arg)
c.1310C>G (p.Pro437Arg)
n.6251C>G
n.1084C>G
c.6359C>G (p.Pro2120Arg)
n.6065C>G
c.6668C>G (p.Pro2223Arg)
c.5861C>G (p.Pro1954Arg)
c.2162C>G (p.Pro721Arg)
c.6248C>G (p.Pro2083Arg)
c.5612C>G (p.Pro1871Arg)
c.2402C>G (p.Pro801Arg)
5g.177294036C>TCA362324816NSD1c.5795C>T (p.Pro1932Leu)
c.1310C>T (p.Pro437Leu)
n.6251C>T
n.1084C>T
c.6359C>T (p.Pro2120Leu)
n.6065C>T
c.6668C>T (p.Pro2223Leu)
c.5861C>T (p.Pro1954Leu)
c.2162C>T (p.Pro721Leu)
c.6248C>T (p.Pro2083Leu)
c.5612C>T (p.Pro1871Leu)
c.2402C>T (p.Pro801Leu)
5g.177294037T>ACA447961643NSD1c.5796T>A (p.Pro1932=)
c.1311T>A (p.Pro437=)
n.6252T>A
n.1085T>A
c.6360T>A (p.Pro2120=)
n.6066T>A
c.6669T>A (p.Pro2223=)
c.5862T>A (p.Pro1954=)
c.2163T>A (p.Pro721=)
c.6249T>A (p.Pro2083=)
c.5613T>A (p.Pro1871=)
c.2403T>A (p.Pro801=)
5g.177294037T>CCA3578024NSD1c.5796T>C (p.Pro1932=)
c.1311T>C (p.Pro437=)
n.6252T>C
n.1085T>C
c.6360T>C (p.Pro2120=)
n.6066T>C
c.6669T>C (p.Pro2223=)
c.5862T>C (p.Pro1954=)
c.2163T>C (p.Pro721=)
c.6249T>C (p.Pro2083=)
c.5613T>C (p.Pro1871=)
c.2403T>C (p.Pro801=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294037T>GCA447961644NSD1c.5796T>G (p.Pro1932=)
c.1311T>G (p.Pro437=)
n.6252T>G
n.1085T>G
c.6360T>G (p.Pro2120=)
n.6066T>G
c.6669T>G (p.Pro2223=)
c.5862T>G (p.Pro1954=)
c.2163T>G (p.Pro721=)
c.6249T>G (p.Pro2083=)
c.5613T>G (p.Pro1871=)
c.2403T>G (p.Pro801=)
5g.177294037T=CA1603535654NSD1c.5796T= (p.Pro1932=)
c.1311T= (p.Pro437=)
n.6252T=
n.1085T=
c.6360T= (p.Pro2120=)
n.6066T=
c.6669T= (p.Pro2223=)
c.5862T= (p.Pro1954=)
c.2163T= (p.Pro721=)
c.6249T= (p.Pro2083=)
c.5613T= (p.Pro1871=)
c.2403T= (p.Pro801=)
5g.177294038C>ACA362324817NSD1c.5797C>A (p.Pro1933Thr)
c.1312C>A (p.Pro438Thr)
n.6253C>A
n.1086C>A
c.6361C>A (p.Pro2121Thr)
n.6067C>A
c.6670C>A (p.Pro2224Thr)
c.5863C>A (p.Pro1955Thr)
c.2164C>A (p.Pro722Thr)
c.6250C>A (p.Pro2084Thr)
c.5614C>A (p.Pro1872Thr)
c.2404C>A (p.Pro802Thr)
5g.177294038C>GCA362324820NSD1c.5797C>G (p.Pro1933Ala)
c.1312C>G (p.Pro438Ala)
n.6253C>G
n.1086C>G
c.6361C>G (p.Pro2121Ala)
n.6067C>G
c.6670C>G (p.Pro2224Ala)
c.5863C>G (p.Pro1955Ala)
c.2164C>G (p.Pro722Ala)
c.6250C>G (p.Pro2084Ala)
c.5614C>G (p.Pro1872Ala)
c.2404C>G (p.Pro802Ala)
5g.177294038C>TCA362324822NSD1c.5797C>T (p.Pro1933Ser)
c.1312C>T (p.Pro438Ser)
n.6253C>T
n.1086C>T
c.6361C>T (p.Pro2121Ser)
n.6067C>T
c.6670C>T (p.Pro2224Ser)
c.5863C>T (p.Pro1955Ser)
c.2164C>T (p.Pro722Ser)
c.6250C>T (p.Pro2084Ser)
c.5614C>T (p.Pro1872Ser)
c.2404C>T (p.Pro802Ser)
 gnomAD v4
5g.177294042delCA2711004818NSD1c.5801del (p.Pro1934GlnfsTer?)
c.1316del (p.Pro439GlnfsTer?)
n.6257del
n.1090del
c.6365del (p.Pro2122GlnfsTer?)
n.6071del
c.6674del (p.Pro2225GlnfsTer?)
c.5867del (p.Pro1956GlnfsTer?)
c.2168del (p.Pro723GlnfsTer?)
c.6254del (p.Pro2085GlnfsTer?)
c.5618del (p.Pro1873GlnfsTer?)
c.2408del (p.Pro803GlnfsTer?)
 dbSNP
5g.177294039C>ACA362324825NSD1c.5798C>A (p.Pro1933His)
c.1313C>A (p.Pro438His)
n.6254C>A
n.1087C>A
c.6362C>A (p.Pro2121His)
n.6068C>A
c.6671C>A (p.Pro2224His)
c.5864C>A (p.Pro1955His)
c.2165C>A (p.Pro722His)
c.6251C>A (p.Pro2084His)
c.5615C>A (p.Pro1872His)
c.2405C>A (p.Pro802His)
5g.177294039C>GCA362324829NSD1c.5798C>G (p.Pro1933Arg)
c.1313C>G (p.Pro438Arg)
n.6254C>G
n.1087C>G
c.6362C>G (p.Pro2121Arg)
n.6068C>G
c.6671C>G (p.Pro2224Arg)
c.5864C>G (p.Pro1955Arg)
c.2165C>G (p.Pro722Arg)
c.6251C>G (p.Pro2084Arg)
c.5615C>G (p.Pro1872Arg)
c.2405C>G (p.Pro802Arg)
5g.177294039C>TCA362324832NSD1c.5798C>T (p.Pro1933Leu)
c.1313C>T (p.Pro438Leu)
n.6254C>T
n.1087C>T
c.6362C>T (p.Pro2121Leu)
n.6068C>T
c.6671C>T (p.Pro2224Leu)
c.5864C>T (p.Pro1955Leu)
c.2165C>T (p.Pro722Leu)
c.6251C>T (p.Pro2084Leu)
c.5615C>T (p.Pro1872Leu)
c.2405C>T (p.Pro802Leu)
 dbSNP gnomAD v4
5g.177294040C>ACA447961648NSD1c.5799C>A (p.Pro1933=)
c.1314C>A (p.Pro438=)
n.6255C>A
n.1088C>A
c.6363C>A (p.Pro2121=)
n.6069C>A
c.6672C>A (p.Pro2224=)
c.5865C>A (p.Pro1955=)
c.2166C>A (p.Pro722=)
c.6252C>A (p.Pro2084=)
c.5616C>A (p.Pro1872=)
c.2406C>A (p.Pro802=)
 dbSNP
5g.177294040C=CA1603535661NSD1c.5799C= (p.Pro1933=)
c.1314C= (p.Pro438=)
n.6255C=
n.1088C=
c.6363C= (p.Pro2121=)
n.6069C=
c.6672C= (p.Pro2224=)
c.5865C= (p.Pro1955=)
c.2166C= (p.Pro722=)
c.6252C= (p.Pro2084=)
c.5616C= (p.Pro1872=)
c.2406C= (p.Pro802=)
5g.177294040C>GCA447961651NSD1c.5799C>G (p.Pro1933=)
c.1314C>G (p.Pro438=)
n.6255C>G
n.1088C>G
c.6363C>G (p.Pro2121=)
n.6069C>G
c.6672C>G (p.Pro2224=)
c.5865C>G (p.Pro1955=)
c.2166C>G (p.Pro722=)
c.6252C>G (p.Pro2084=)
c.5616C>G (p.Pro1872=)
c.2406C>G (p.Pro802=)
 dbSNP gnomAD v3 gnomAD v4
5g.177294040C>TCA447961652NSD1c.5799C>T (p.Pro1933=)
c.1314C>T (p.Pro438=)
n.6255C>T
n.1088C>T
c.6363C>T (p.Pro2121=)
n.6069C>T
c.6672C>T (p.Pro2224=)
c.5865C>T (p.Pro1955=)
c.2166C>T (p.Pro722=)
c.6252C>T (p.Pro2084=)
c.5616C>T (p.Pro1872=)
c.2406C>T (p.Pro802=)
5g.177294041C>ACA362324838NSD1c.5800C>A (p.Pro1934Thr)
c.1315C>A (p.Pro439Thr)
n.6256C>A
n.1089C>A
c.6364C>A (p.Pro2122Thr)
n.6070C>A
c.6673C>A (p.Pro2225Thr)
c.5866C>A (p.Pro1956Thr)
c.2167C>A (p.Pro723Thr)
c.6253C>A (p.Pro2085Thr)
c.5617C>A (p.Pro1873Thr)
c.2407C>A (p.Pro803Thr)
 gnomAD v3 gnomAD v4
5g.177294041C=CA1603535666NSD1c.5800C= (p.Pro1934=)
c.1315C= (p.Pro439=)
n.6256C=
n.1089C=
c.6364C= (p.Pro2122=)
n.6070C=
c.6673C= (p.Pro2225=)
c.5866C= (p.Pro1956=)
c.2167C= (p.Pro723=)
c.6253C= (p.Pro2085=)
c.5617C= (p.Pro1873=)
c.2407C= (p.Pro803=)
5g.177294041C>GCA362324842NSD1c.5800C>G (p.Pro1934Ala)
c.1315C>G (p.Pro439Ala)
n.6256C>G
n.1089C>G
c.6364C>G (p.Pro2122Ala)
n.6070C>G
c.6673C>G (p.Pro2225Ala)
c.5866C>G (p.Pro1956Ala)
c.2167C>G (p.Pro723Ala)
c.6253C>G (p.Pro2085Ala)
c.5617C>G (p.Pro1873Ala)
c.2407C>G (p.Pro803Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177294041C>TCA362324835NSD1c.5800C>T (p.Pro1934Ser)
c.1315C>T (p.Pro439Ser)
n.6256C>T
n.1089C>T
c.6364C>T (p.Pro2122Ser)
n.6070C>T
c.6673C>T (p.Pro2225Ser)
c.5866C>T (p.Pro1956Ser)
c.2167C>T (p.Pro723Ser)
c.6253C>T (p.Pro2085Ser)
c.5617C>T (p.Pro1873Ser)
c.2407C>T (p.Pro803Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177294042C>ACA362324852NSD1c.5801C>A (p.Pro1934Gln)
c.1316C>A (p.Pro439Gln)
n.6257C>A
n.1090C>A
c.6365C>A (p.Pro2122Gln)
n.6071C>A
c.6674C>A (p.Pro2225Gln)
c.5867C>A (p.Pro1956Gln)
c.2168C>A (p.Pro723Gln)
c.6254C>A (p.Pro2085Gln)
c.5618C>A (p.Pro1873Gln)
c.2408C>A (p.Pro803Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177294042C=CA1603535668NSD1c.5801C= (p.Pro1934=)
c.1316C= (p.Pro439=)
n.6257C=
n.1090C=
c.6365C= (p.Pro2122=)
n.6071C=
c.6674C= (p.Pro2225=)
c.5867C= (p.Pro1956=)
c.2168C= (p.Pro723=)
c.6254C= (p.Pro2085=)
c.5618C= (p.Pro1873=)
c.2408C= (p.Pro803=)
5g.177294042C>GCA3578025NSD1c.5801C>G (p.Pro1934Arg)
c.1316C>G (p.Pro439Arg)
n.6257C>G
n.1090C>G
c.6365C>G (p.Pro2122Arg)
n.6071C>G
c.6674C>G (p.Pro2225Arg)
c.5867C>G (p.Pro1956Arg)
c.2168C>G (p.Pro723Arg)
c.6254C>G (p.Pro2085Arg)
c.5618C>G (p.Pro1873Arg)
c.2408C>G (p.Pro803Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294042C>TCA362324849NSD1c.5801C>T (p.Pro1934Leu)
c.1316C>T (p.Pro439Leu)
n.6257C>T
n.1090C>T
c.6365C>T (p.Pro2122Leu)
n.6071C>T
c.6674C>T (p.Pro2225Leu)
c.5867C>T (p.Pro1956Leu)
c.2168C>T (p.Pro723Leu)
c.6254C>T (p.Pro2085Leu)
c.5618C>T (p.Pro1873Leu)
c.2408C>T (p.Pro803Leu)
 gnomAD v4
5g.177294043A=CA1603535671NSD1c.5802A= (p.Pro1934=)
c.1317A= (p.Pro439=)
n.6258A=
n.1091A=
c.6366A= (p.Pro2122=)
n.6072A=
c.6675A= (p.Pro2225=)
c.5868A= (p.Pro1956=)
c.2169A= (p.Pro723=)
c.6255A= (p.Pro2085=)
c.5619A= (p.Pro1873=)
c.2409A= (p.Pro803=)
5g.177294043A>CCA3578026NSD1c.5802A>C (p.Pro1934=)
c.1317A>C (p.Pro439=)
n.6258A>C
n.1091A>C
c.6366A>C (p.Pro2122=)
n.6072A>C
c.6675A>C (p.Pro2225=)
c.5868A>C (p.Pro1956=)
c.2169A>C (p.Pro723=)
c.6255A>C (p.Pro2085=)
c.5619A>C (p.Pro1873=)
c.2409A>C (p.Pro803=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294043A>GCA447961653NSD1c.5802A>G (p.Pro1934=)
c.1317A>G (p.Pro439=)
n.6258A>G
n.1091A>G
c.6366A>G (p.Pro2122=)
n.6072A>G
c.6675A>G (p.Pro2225=)
c.5868A>G (p.Pro1956=)
c.2169A>G (p.Pro723=)
c.6255A>G (p.Pro2085=)
c.5619A>G (p.Pro1873=)
c.2409A>G (p.Pro803=)
5g.177294043A>TCA447961654NSD1c.5802A>T (p.Pro1934=)
c.1317A>T (p.Pro439=)
n.6258A>T
n.1091A>T
c.6366A>T (p.Pro2122=)
n.6072A>T
c.6675A>T (p.Pro2225=)
c.5868A>T (p.Pro1956=)
c.2169A>T (p.Pro723=)
c.6255A>T (p.Pro2085=)
c.5619A>T (p.Pro1873=)
c.2409A>T (p.Pro803=)
5g.177294044G>ACA362324861NSD1c.5803G>A (p.Val1935Ile)
c.1318G>A (p.Val440Ile)
n.6259G>A
n.1092G>A
c.6367G>A (p.Val2123Ile)
n.6073G>A
c.6676G>A (p.Val2226Ile)
c.5869G>A (p.Val1957Ile)
c.2170G>A (p.Val724Ile)
c.6256G>A (p.Val2086Ile)
c.5620G>A (p.Val1874Ile)
c.2410G>A (p.Val804Ile)
 dbSNP gnomAD v4
5g.177294044G>CCA362324863NSD1c.5803G>C (p.Val1935Leu)
c.1318G>C (p.Val440Leu)
n.6259G>C
n.1092G>C
c.6367G>C (p.Val2123Leu)
n.6073G>C
c.6676G>C (p.Val2226Leu)
c.5869G>C (p.Val1957Leu)
c.2170G>C (p.Val724Leu)
c.6256G>C (p.Val2086Leu)
c.5620G>C (p.Val1874Leu)
c.2410G>C (p.Val804Leu)
5g.177294044G>TCA362324864NSD1c.5803G>T (p.Val1935Leu)
c.1318G>T (p.Val440Leu)
n.6259G>T
n.1092G>T
c.6367G>T (p.Val2123Leu)
n.6073G>T
c.6676G>T (p.Val2226Leu)
c.5869G>T (p.Val1957Leu)
c.2170G>T (p.Val724Leu)
c.6256G>T (p.Val2086Leu)
c.5620G>T (p.Val1874Leu)
c.2410G>T (p.Val804Leu)
5g.177294045T>ACA362324869NSD1c.5804T>A (p.Val1935Glu)
c.1319T>A (p.Val440Glu)
n.6260T>A
n.1093T>A
c.6368T>A (p.Val2123Glu)
n.6074T>A
c.6677T>A (p.Val2226Glu)
c.5870T>A (p.Val1957Glu)
c.2171T>A (p.Val724Glu)
c.6257T>A (p.Val2086Glu)
c.5621T>A (p.Val1874Glu)
c.2411T>A (p.Val804Glu)
5g.177294045T>CCA362324871NSD1c.5804T>C (p.Val1935Ala)
c.1319T>C (p.Val440Ala)
n.6260T>C
n.1093T>C
c.6368T>C (p.Val2123Ala)
n.6074T>C
c.6677T>C (p.Val2226Ala)
c.5870T>C (p.Val1957Ala)
c.2171T>C (p.Val724Ala)
c.6257T>C (p.Val2086Ala)
c.5621T>C (p.Val1874Ala)
c.2411T>C (p.Val804Ala)
5g.177294045T>GCA362324875NSD1c.5804T>G (p.Val1935Gly)
c.1319T>G (p.Val440Gly)
n.6260T>G
n.1093T>G
c.6368T>G (p.Val2123Gly)
n.6074T>G
c.6677T>G (p.Val2226Gly)
c.5870T>G (p.Val1957Gly)
c.2171T>G (p.Val724Gly)
c.6257T>G (p.Val2086Gly)
c.5621T>G (p.Val1874Gly)
c.2411T>G (p.Val804Gly)
5g.177294046A>CCA447961657NSD1c.5805A>C (p.Val1935=)
c.1320A>C (p.Val440=)
n.6261A>C
n.1094A>C
c.6369A>C (p.Val2123=)
n.6075A>C
c.6678A>C (p.Val2226=)
c.5871A>C (p.Val1957=)
c.2172A>C (p.Val724=)
c.6258A>C (p.Val2086=)
c.5622A>C (p.Val1874=)
c.2412A>C (p.Val804=)
5g.177294046A>GCA447961659NSD1c.5805A>G (p.Val1935=)
c.1320A>G (p.Val440=)
n.6261A>G
n.1094A>G
c.6369A>G (p.Val2123=)
n.6075A>G
c.6678A>G (p.Val2226=)
c.5871A>G (p.Val1957=)
c.2172A>G (p.Val724=)
c.6258A>G (p.Val2086=)
c.5622A>G (p.Val1874=)
c.2412A>G (p.Val804=)
5g.177294046A>TCA447961658NSD1c.5805A>T (p.Val1935=)
c.1320A>T (p.Val440=)
n.6261A>T
n.1094A>T
c.6369A>T (p.Val2123=)
n.6075A>T
c.6678A>T (p.Val2226=)
c.5871A>T (p.Val1957=)
c.2172A>T (p.Val724=)
c.6258A>T (p.Val2086=)
c.5622A>T (p.Val1874=)
c.2412A>T (p.Val804=)
5g.177294047C>ACA362324878NSD1c.5806C>A (p.Pro1936Thr)
c.1321C>A (p.Pro441Thr)
n.6262C>A
n.1095C>A
c.6370C>A (p.Pro2124Thr)
n.6076C>A
c.6679C>A (p.Pro2227Thr)
c.5872C>A (p.Pro1958Thr)
c.2173C>A (p.Pro725Thr)
c.6259C>A (p.Pro2087Thr)
c.5623C>A (p.Pro1875Thr)
c.2413C>A (p.Pro805Thr)
5g.177294047C>GCA362324881NSD1c.5806C>G (p.Pro1936Ala)
c.1321C>G (p.Pro441Ala)
n.6262C>G
n.1095C>G
c.6370C>G (p.Pro2124Ala)
n.6076C>G
c.6679C>G (p.Pro2227Ala)
c.5872C>G (p.Pro1958Ala)
c.2173C>G (p.Pro725Ala)
c.6259C>G (p.Pro2087Ala)
c.5623C>G (p.Pro1875Ala)
c.2413C>G (p.Pro805Ala)
5g.177294047C>TCA362324883NSD1c.5806C>T (p.Pro1936Ser)
c.1321C>T (p.Pro441Ser)
n.6262C>T
n.1095C>T
c.6370C>T (p.Pro2124Ser)
n.6076C>T
c.6679C>T (p.Pro2227Ser)
c.5872C>T (p.Pro1958Ser)
c.2173C>T (p.Pro725Ser)
c.6259C>T (p.Pro2087Ser)
c.5623C>T (p.Pro1875Ser)
c.2413C>T (p.Pro805Ser)
 dbSNP
5g.177294048C>ACA362324890NSD1c.5807C>A (p.Pro1936Gln)
c.1322C>A (p.Pro441Gln)
n.6263C>A
n.1096C>A
c.6371C>A (p.Pro2124Gln)
n.6077C>A
c.6680C>A (p.Pro2227Gln)
c.5873C>A (p.Pro1958Gln)
c.2174C>A (p.Pro725Gln)
c.6260C>A (p.Pro2087Gln)
c.5624C>A (p.Pro1875Gln)
c.2414C>A (p.Pro805Gln)
 dbSNP
5g.177294048C=CA1603535674NSD1c.5807C= (p.Pro1936=)
c.1322C= (p.Pro441=)
n.6263C=
n.1096C=
c.6371C= (p.Pro2124=)
n.6077C=
c.6680C= (p.Pro2227=)
c.5873C= (p.Pro1958=)
c.2174C= (p.Pro725=)
c.6260C= (p.Pro2087=)
c.5624C= (p.Pro1875=)
c.2414C= (p.Pro805=)
5g.177294048C>GCA362324886NSD1c.5807C>G (p.Pro1936Arg)
c.1322C>G (p.Pro441Arg)
n.6263C>G
n.1096C>G
c.6371C>G (p.Pro2124Arg)
n.6077C>G
c.6680C>G (p.Pro2227Arg)
c.5873C>G (p.Pro1958Arg)
c.2174C>G (p.Pro725Arg)
c.6260C>G (p.Pro2087Arg)
c.5624C>G (p.Pro1875Arg)
c.2414C>G (p.Pro805Arg)
5g.177294048C>TCA3578027NSD1c.5807C>T (p.Pro1936Leu)
c.1322C>T (p.Pro441Leu)
n.6263C>T
n.1096C>T
c.6371C>T (p.Pro2124Leu)
n.6077C>T
c.6680C>T (p.Pro2227Leu)
c.5873C>T (p.Pro1958Leu)
c.2174C>T (p.Pro725Leu)
c.6260C>T (p.Pro2087Leu)
c.5624C>T (p.Pro1875Leu)
c.2414C>T (p.Pro805Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294049G>ACA3578028NSD1c.5808G>A (p.Pro1936=)
c.1323G>A (p.Pro441=)
n.6264G>A
n.1097G>A
c.6372G>A (p.Pro2124=)
n.6078G>A
c.6681G>A (p.Pro2227=)
c.5874G>A (p.Pro1958=)
c.2175G>A (p.Pro725=)
c.6261G>A (p.Pro2087=)
c.5625G>A (p.Pro1875=)
c.2415G>A (p.Pro805=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294049G>CCA447961663NSD1c.5808G>C (p.Pro1936=)
c.1323G>C (p.Pro441=)
n.6264G>C
n.1097G>C
c.6372G>C (p.Pro2124=)
n.6078G>C
c.6681G>C (p.Pro2227=)
c.5874G>C (p.Pro1958=)
c.2175G>C (p.Pro725=)
c.6261G>C (p.Pro2087=)
c.5625G>C (p.Pro1875=)
c.2415G>C (p.Pro805=)
 dbSNP
5g.177294049G=CA1603535676NSD1c.5808G= (p.Pro1936=)
c.1323G= (p.Pro441=)
n.6264G=
n.1097G=
c.6372G= (p.Pro2124=)
n.6078G=
c.6681G= (p.Pro2227=)
c.5874G= (p.Pro1958=)
c.2175G= (p.Pro725=)
c.6261G= (p.Pro2087=)
c.5625G= (p.Pro1875=)
c.2415G= (p.Pro805=)
5g.177294049G>TCA447961664NSD1c.5808G>T (p.Pro1936=)
c.1323G>T (p.Pro441=)
n.6264G>T
n.1097G>T
c.6372G>T (p.Pro2124=)
n.6078G>T
c.6681G>T (p.Pro2227=)
c.5874G>T (p.Pro1958=)
c.2175G>T (p.Pro725=)
c.6261G>T (p.Pro2087=)
c.5625G>T (p.Pro1875=)
c.2415G>T (p.Pro805=)
5g.177294050C>ACA362324896NSD1c.5809C>A (p.Leu1937Met)
c.1324C>A (p.Leu442Met)
n.6265C>A
n.1098C>A
c.6373C>A (p.Leu2125Met)
n.6079C>A
c.6682C>A (p.Leu2228Met)
c.5875C>A (p.Leu1959Met)
c.2176C>A (p.Leu726Met)
c.6262C>A (p.Leu2088Met)
c.5626C>A (p.Leu1876Met)
c.2416C>A (p.Leu806Met)
5g.177294050C>GCA362324905NSD1c.5809C>G (p.Leu1937Val)
c.1324C>G (p.Leu442Val)
n.6265C>G
n.1098C>G
c.6373C>G (p.Leu2125Val)
n.6079C>G
c.6682C>G (p.Leu2228Val)
c.5875C>G (p.Leu1959Val)
c.2176C>G (p.Leu726Val)
c.6262C>G (p.Leu2088Val)
c.5626C>G (p.Leu1876Val)
c.2416C>G (p.Leu806Val)
5g.177294050C>TCA447961668NSD1c.5809C>T (p.Leu1937=)
c.1324C>T (p.Leu442=)
n.6265C>T
n.1098C>T
c.6373C>T (p.Leu2125=)
n.6079C>T
c.6682C>T (p.Leu2228=)
c.5875C>T (p.Leu1959=)
c.2176C>T (p.Leu726=)
c.6262C>T (p.Leu2088=)
c.5626C>T (p.Leu1876=)
c.2416C>T (p.Leu806=)
5g.177294051T>ACA362324909NSD1c.5810T>A (p.Leu1937Gln)
c.1325T>A (p.Leu442Gln)
n.6266T>A
n.1099T>A
c.6374T>A (p.Leu2125Gln)
n.6080T>A
c.6683T>A (p.Leu2228Gln)
c.5876T>A (p.Leu1959Gln)
c.2177T>A (p.Leu726Gln)
c.6263T>A (p.Leu2088Gln)
c.5627T>A (p.Leu1876Gln)
c.2417T>A (p.Leu806Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.177294051T>CCA362324915NSD1c.5810T>C (p.Leu1937Pro)
c.1325T>C (p.Leu442Pro)
n.6266T>C
n.1099T>C
c.6374T>C (p.Leu2125Pro)
n.6080T>C
c.6683T>C (p.Leu2228Pro)
c.5876T>C (p.Leu1959Pro)
c.2177T>C (p.Leu726Pro)
c.6263T>C (p.Leu2088Pro)
c.5627T>C (p.Leu1876Pro)
c.2417T>C (p.Leu806Pro)
5g.177294051T>GCA362324917NSD1c.5810T>G (p.Leu1937Arg)
c.1325T>G (p.Leu442Arg)
n.6266T>G
n.1099T>G
c.6374T>G (p.Leu2125Arg)
n.6080T>G
c.6683T>G (p.Leu2228Arg)
c.5876T>G (p.Leu1959Arg)
c.2177T>G (p.Leu726Arg)
c.6263T>G (p.Leu2088Arg)
c.5627T>G (p.Leu1876Arg)
c.2417T>G (p.Leu806Arg)
5g.177294051T=CA1603535680NSD1c.5810T= (p.Leu1937=)
c.1325T= (p.Leu442=)
n.6266T=
n.1099T=
c.6374T= (p.Leu2125=)
n.6080T=
c.6683T= (p.Leu2228=)
c.5876T= (p.Leu1959=)
c.2177T= (p.Leu726=)
c.6263T= (p.Leu2088=)
c.5627T= (p.Leu1876=)
c.2417T= (p.Leu806=)
5g.177294051_177294052delinsCTCA1139659264NSD1c.5810_5811delinsCT (p.Leu1937Pro)
c.1325_1326delinsCT (p.Leu442Pro)
n.6266_6267delinsCT
n.1099_1100delinsCT
c.6374_6375delinsCT (p.Leu2125Pro)
n.6080_6081delinsCT
c.6683_6684delinsCT (p.Leu2228Pro)
c.5876_5877delinsCT (p.Leu1959Pro)
c.2177_2178delinsCT (p.Leu726Pro)
c.6263_6264delinsCT (p.Leu2088Pro)
c.5627_5628delinsCT (p.Leu1876Pro)
c.2417_2418delinsCT (p.Leu806Pro)
 ClinVar dbSNP
5g.177294051_177294052delinsTGCA1603535682NSD1c.5810_5811delinsTG (p.Leu1937=)
c.1325_1326delinsTG (p.Leu442=)
n.6266_6267delinsTG
n.1099_1100delinsTG
c.6374_6375delinsTG (p.Leu2125=)
n.6080_6081delinsTG
c.6683_6684delinsTG (p.Leu2228=)
c.5876_5877delinsTG (p.Leu1959=)
c.2177_2178delinsTG (p.Leu726=)
c.6263_6264delinsTG (p.Leu2088=)
c.5627_5628delinsTG (p.Leu1876=)
c.2417_2418delinsTG (p.Leu806=)
5g.177294052G>ACA447961672NSD1c.5811G>A (p.Leu1937=)
c.1326G>A (p.Leu442=)
n.6267G>A
n.1100G>A
c.6375G>A (p.Leu2125=)
n.6081G>A
c.6684G>A (p.Leu2228=)
c.5877G>A (p.Leu1959=)
c.2178G>A (p.Leu726=)
c.6264G>A (p.Leu2088=)
c.5628G>A (p.Leu1876=)
c.2418G>A (p.Leu806=)
 dbSNP gnomAD v3 gnomAD v4
5g.177294052G>CCA447961673NSD1c.5811G>C (p.Leu1937=)
c.1326G>C (p.Leu442=)
n.6267G>C
n.1100G>C
c.6375G>C (p.Leu2125=)
n.6081G>C
c.6684G>C (p.Leu2228=)
c.5877G>C (p.Leu1959=)
c.2178G>C (p.Leu726=)
c.6264G>C (p.Leu2088=)
c.5628G>C (p.Leu1876=)
c.2418G>C (p.Leu806=)
5g.177294052G=CA1603535685NSD1c.5811G= (p.Leu1937=)
c.1326G= (p.Leu442=)
n.6267G=
n.1100G=
c.6375G= (p.Leu2125=)
n.6081G=
c.6684G= (p.Leu2228=)
c.5877G= (p.Leu1959=)
c.2178G= (p.Leu726=)
c.6264G= (p.Leu2088=)
c.5628G= (p.Leu1876=)
c.2418G= (p.Leu806=)
5g.177294052G>TCA447961674NSD1c.5811G>T (p.Leu1937=)
c.1326G>T (p.Leu442=)
n.6267G>T
n.1100G>T
c.6375G>T (p.Leu2125=)
n.6081G>T
c.6684G>T (p.Leu2228=)
c.5877G>T (p.Leu1959=)
c.2178G>T (p.Leu726=)
c.6264G>T (p.Leu2088=)
c.5628G>T (p.Leu1876=)
c.2418G>T (p.Leu806=)
5g.177294053C>ACA362324922NSD1c.5812C>A (p.Pro1938Thr)
c.1327C>A (p.Pro443Thr)
n.6268C>A
n.1101C>A
c.6376C>A (p.Pro2126Thr)
n.6082C>A
c.6685C>A (p.Pro2229Thr)
c.5878C>A (p.Pro1960Thr)
c.2179C>A (p.Pro727Thr)
c.6265C>A (p.Pro2089Thr)
c.5629C>A (p.Pro1877Thr)
c.2419C>A (p.Pro807Thr)
5g.177294053C>GCA362324927NSD1c.5812C>G (p.Pro1938Ala)
c.1327C>G (p.Pro443Ala)
n.6268C>G
n.1101C>G
c.6376C>G (p.Pro2126Ala)
n.6082C>G
c.6685C>G (p.Pro2229Ala)
c.5878C>G (p.Pro1960Ala)
c.2179C>G (p.Pro727Ala)
c.6265C>G (p.Pro2089Ala)
c.5629C>G (p.Pro1877Ala)
c.2419C>G (p.Pro807Ala)
5g.177294053C>TCA362324929NSD1c.5812C>T (p.Pro1938Ser)
c.1327C>T (p.Pro443Ser)
n.6268C>T
n.1101C>T
c.6376C>T (p.Pro2126Ser)
n.6082C>T
c.6685C>T (p.Pro2229Ser)
c.5878C>T (p.Pro1960Ser)
c.2179C>T (p.Pro727Ser)
c.6265C>T (p.Pro2089Ser)
c.5629C>T (p.Pro1877Ser)
c.2419C>T (p.Pro807Ser)
 dbSNP
5g.177294054C>ACA362324935NSD1c.5813C>A (p.Pro1938His)
c.1328C>A (p.Pro443His)
n.6269C>A
n.1102C>A
c.6377C>A (p.Pro2126His)
n.6083C>A
c.6686C>A (p.Pro2229His)
c.5879C>A (p.Pro1960His)
c.2180C>A (p.Pro727His)
c.6266C>A (p.Pro2089His)
c.5630C>A (p.Pro1877His)
c.2420C>A (p.Pro807His)
5g.177294054C>GCA362324941NSD1c.5813C>G (p.Pro1938Arg)
c.1328C>G (p.Pro443Arg)
n.6269C>G
n.1102C>G
c.6377C>G (p.Pro2126Arg)
n.6083C>G
c.6686C>G (p.Pro2229Arg)
c.5879C>G (p.Pro1960Arg)
c.2180C>G (p.Pro727Arg)
c.6266C>G (p.Pro2089Arg)
c.5630C>G (p.Pro1877Arg)
c.2420C>G (p.Pro807Arg)
5g.177294054C>TCA362324943NSD1c.5813C>T (p.Pro1938Leu)
c.1328C>T (p.Pro443Leu)
n.6269C>T
n.1102C>T
c.6377C>T (p.Pro2126Leu)
n.6083C>T
c.6686C>T (p.Pro2229Leu)
c.5879C>T (p.Pro1960Leu)
c.2180C>T (p.Pro727Leu)
c.6266C>T (p.Pro2089Leu)
c.5630C>T (p.Pro1877Leu)
c.2420C>T (p.Pro807Leu)
5g.177294055T>ACA447961678NSD1c.5814T>A (p.Pro1938=)
c.1329T>A (p.Pro443=)
n.6270T>A
n.1103T>A
c.6378T>A (p.Pro2126=)
n.6084T>A
c.6687T>A (p.Pro2229=)
c.5880T>A (p.Pro1960=)
c.2181T>A (p.Pro727=)
c.6267T>A (p.Pro2089=)
c.5631T>A (p.Pro1877=)
c.2421T>A (p.Pro807=)
5g.177294055T>CCA447961679NSD1c.5814T>C (p.Pro1938=)
c.1329T>C (p.Pro443=)
n.6270T>C
n.1103T>C
c.6378T>C (p.Pro2126=)
n.6084T>C
c.6687T>C (p.Pro2229=)
c.5880T>C (p.Pro1960=)
c.2181T>C (p.Pro727=)
c.6267T>C (p.Pro2089=)
c.5631T>C (p.Pro1877=)
c.2421T>C (p.Pro807=)
5g.177294055T>GCA447961680NSD1c.5814T>G (p.Pro1938=)
c.1329T>G (p.Pro443=)
n.6270T>G
n.1103T>G
c.6378T>G (p.Pro2126=)
n.6084T>G
c.6687T>G (p.Pro2229=)
c.5880T>G (p.Pro1960=)
c.2181T>G (p.Pro727=)
c.6267T>G (p.Pro2089=)
c.5631T>G (p.Pro1877=)
c.2421T>G (p.Pro807=)
5g.177294056C>ACA362324945NSD1c.5815C>A (p.Pro1939Thr)
c.1330C>A (p.Pro444Thr)
n.6271C>A
n.1104C>A
c.6379C>A (p.Pro2127Thr)
n.6085C>A
c.6688C>A (p.Pro2230Thr)
c.5881C>A (p.Pro1961Thr)
c.2182C>A (p.Pro728Thr)
c.6268C>A (p.Pro2090Thr)
c.5632C>A (p.Pro1878Thr)
c.2422C>A (p.Pro808Thr)
5g.177294056C=CA1603535686NSD1c.5815C= (p.Pro1939=)
c.1330C= (p.Pro444=)
n.6271C=
n.1104C=
c.6379C= (p.Pro2127=)
n.6085C=
c.6688C= (p.Pro2230=)
c.5881C= (p.Pro1961=)
c.2182C= (p.Pro728=)
c.6268C= (p.Pro2090=)
c.5632C= (p.Pro1878=)
c.2422C= (p.Pro808=)
5g.177294056C>GCA362324947NSD1c.5815C>G (p.Pro1939Ala)
c.1330C>G (p.Pro444Ala)
n.6271C>G
n.1104C>G
c.6379C>G (p.Pro2127Ala)
n.6085C>G
c.6688C>G (p.Pro2230Ala)
c.5881C>G (p.Pro1961Ala)
c.2182C>G (p.Pro728Ala)
c.6268C>G (p.Pro2090Ala)
c.5632C>G (p.Pro1878Ala)
c.2422C>G (p.Pro808Ala)
5g.177294056C>TCA132862537NSD1c.5815C>T (p.Pro1939Ser)
c.1330C>T (p.Pro444Ser)
n.6271C>T
n.1104C>T
c.6379C>T (p.Pro2127Ser)
n.6085C>T
c.6688C>T (p.Pro2230Ser)
c.5881C>T (p.Pro1961Ser)
c.2182C>T (p.Pro728Ser)
c.6268C>T (p.Pro2090Ser)
c.5632C>T (p.Pro1878Ser)
c.2422C>T (p.Pro808Ser)
 dbSNP
5g.177294057C>ACA362324951NSD1c.5816C>A (p.Pro1939Gln)
c.1331C>A (p.Pro444Gln)
n.6272C>A
n.1105C>A
c.6380C>A (p.Pro2127Gln)
n.6086C>A
c.6689C>A (p.Pro2230Gln)
c.5882C>A (p.Pro1961Gln)
c.2183C>A (p.Pro728Gln)
c.6269C>A (p.Pro2090Gln)
c.5633C>A (p.Pro1878Gln)
c.2423C>A (p.Pro808Gln)
5g.177294057C>GCA362324955NSD1c.5816C>G (p.Pro1939Arg)
c.1331C>G (p.Pro444Arg)
n.6272C>G
n.1105C>G
c.6380C>G (p.Pro2127Arg)
n.6086C>G
c.6689C>G (p.Pro2230Arg)
c.5882C>G (p.Pro1961Arg)
c.2183C>G (p.Pro728Arg)
c.6269C>G (p.Pro2090Arg)
c.5633C>G (p.Pro1878Arg)
c.2423C>G (p.Pro808Arg)
5g.177294057C>TCA362324959NSD1c.5816C>T (p.Pro1939Leu)
c.1331C>T (p.Pro444Leu)
n.6272C>T
n.1105C>T
c.6380C>T (p.Pro2127Leu)
n.6086C>T
c.6689C>T (p.Pro2230Leu)
c.5882C>T (p.Pro1961Leu)
c.2183C>T (p.Pro728Leu)
c.6269C>T (p.Pro2090Leu)
c.5633C>T (p.Pro1878Leu)
c.2423C>T (p.Pro808Leu)
5g.177294058A>CCA447961685NSD1c.5817A>C (p.Pro1939=)
c.1332A>C (p.Pro444=)
n.6273A>C
n.1106A>C
c.6381A>C (p.Pro2127=)
n.6087A>C
c.6690A>C (p.Pro2230=)
c.5883A>C (p.Pro1961=)
c.2184A>C (p.Pro728=)
c.6270A>C (p.Pro2090=)
c.5634A>C (p.Pro1878=)
c.2424A>C (p.Pro808=)
5g.177294058A>GCA447961686NSD1c.5817A>G (p.Pro1939=)
c.1332A>G (p.Pro444=)
n.6273A>G
n.1106A>G
c.6381A>G (p.Pro2127=)
n.6087A>G
c.6690A>G (p.Pro2230=)
c.5883A>G (p.Pro1961=)
c.2184A>G (p.Pro728=)
c.6270A>G (p.Pro2090=)
c.5634A>G (p.Pro1878=)
c.2424A>G (p.Pro808=)
 dbSNP
5g.177294058A>TCA447961687NSD1c.5817A>T (p.Pro1939=)
c.1332A>T (p.Pro444=)
n.6273A>T
n.1106A>T
c.6381A>T (p.Pro2127=)
n.6087A>T
c.6690A>T (p.Pro2230=)
c.5883A>T (p.Pro1961=)
c.2184A>T (p.Pro728=)
c.6270A>T (p.Pro2090=)
c.5634A>T (p.Pro1878=)
c.2424A>T (p.Pro808=)
5g.177294059G>ACA362324964NSD1c.5818G>A (p.Gly1940Arg)
c.1333G>A (p.Gly445Arg)
n.6274G>A
n.1107G>A
c.6382G>A (p.Gly2128Arg)
n.6088G>A
c.6691G>A (p.Gly2231Arg)
c.5884G>A (p.Gly1962Arg)
c.2185G>A (p.Gly729Arg)
c.6271G>A (p.Gly2091Arg)
c.5635G>A (p.Gly1879Arg)
c.2425G>A (p.Gly809Arg)
 gnomAD v4
5g.177294059G>CCA362324966NSD1c.5818G>C (p.Gly1940Arg)
c.1333G>C (p.Gly445Arg)
n.6274G>C
n.1107G>C
c.6382G>C (p.Gly2128Arg)
n.6088G>C
c.6691G>C (p.Gly2231Arg)
c.5884G>C (p.Gly1962Arg)
c.2185G>C (p.Gly729Arg)
c.6271G>C (p.Gly2091Arg)
c.5635G>C (p.Gly1879Arg)
c.2425G>C (p.Gly809Arg)
5g.177294059G>TCA362324969NSD1c.5818G>T (p.Gly1940Trp)
c.1333G>T (p.Gly445Trp)
n.6274G>T
n.1107G>T
c.6382G>T (p.Gly2128Trp)
n.6088G>T
c.6691G>T (p.Gly2231Trp)
c.5884G>T (p.Gly1962Trp)
c.2185G>T (p.Gly729Trp)
c.6271G>T (p.Gly2091Trp)
c.5635G>T (p.Gly1879Trp)
c.2425G>T (p.Gly809Trp)

Number of alleles fetched