Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177294061G>ACA447961691NSD1c.5820G>A (p.Gly1940=)
c.1335G>A (p.Gly445=)
n.6276G>A
n.1109G>A
c.6384G>A (p.Gly2128=)
n.6090G>A
c.6693G>A (p.Gly2231=)
c.5886G>A (p.Gly1962=)
c.2187G>A (p.Gly729=)
c.6273G>A (p.Gly2091=)
c.5637G>A (p.Gly1879=)
c.2427G>A (p.Gly809=)
dbSNP gnomAD v2 gnomAD v4
5g.177294061G>CCA447961692NSD1c.5820G>C (p.Gly1940=)
c.1335G>C (p.Gly445=)
n.6276G>C
n.1109G>C
c.6384G>C (p.Gly2128=)
n.6090G>C
c.6693G>C (p.Gly2231=)
c.5886G>C (p.Gly1962=)
c.2187G>C (p.Gly729=)
c.6273G>C (p.Gly2091=)
c.5637G>C (p.Gly1879=)
c.2427G>C (p.Gly809=)
5g.177294061G=CA1603535689NSD1c.5820G= (p.Gly1940=)
c.1335G= (p.Gly445=)
n.6276G=
n.1109G=
c.6384G= (p.Gly2128=)
n.6090G=
c.6693G= (p.Gly2231=)
c.5886G= (p.Gly1962=)
c.2187G= (p.Gly729=)
c.6273G= (p.Gly2091=)
c.5637G= (p.Gly1879=)
c.2427G= (p.Gly809=)
5g.177294061G>TCA447961693NSD1c.5820G>T (p.Gly1940=)
c.1335G>T (p.Gly445=)
n.6276G>T
n.1109G>T
c.6384G>T (p.Gly2128=)
n.6090G>T
c.6693G>T (p.Gly2231=)
c.5886G>T (p.Gly1962=)
c.2187G>T (p.Gly729=)
c.6273G>T (p.Gly2091=)
c.5637G>T (p.Gly1879=)
c.2427G>T (p.Gly809=)
5g.177294062C>ACA362324988NSD1c.5821C>A (p.Pro1941Thr)
c.1336C>A (p.Pro446Thr)
n.6277C>A
n.1110C>A
c.6385C>A (p.Pro2129Thr)
n.6091C>A
c.6694C>A (p.Pro2232Thr)
c.5887C>A (p.Pro1963Thr)
c.2188C>A (p.Pro730Thr)
c.6274C>A (p.Pro2092Thr)
c.5638C>A (p.Pro1880Thr)
c.2428C>A (p.Pro810Thr)
dbSNP
5g.177294062C>GCA362324990NSD1c.5821C>G (p.Pro1941Ala)
c.1336C>G (p.Pro446Ala)
n.6277C>G
n.1110C>G
c.6385C>G (p.Pro2129Ala)
n.6091C>G
c.6694C>G (p.Pro2232Ala)
c.5887C>G (p.Pro1963Ala)
c.2188C>G (p.Pro730Ala)
c.6274C>G (p.Pro2092Ala)
c.5638C>G (p.Pro1880Ala)
c.2428C>G (p.Pro810Ala)
5g.177294062C>TCA362324997NSD1c.5821C>T (p.Pro1941Ser)
c.1336C>T (p.Pro446Ser)
n.6277C>T
n.1110C>T
c.6385C>T (p.Pro2129Ser)
n.6091C>T
c.6694C>T (p.Pro2232Ser)
c.5887C>T (p.Pro1963Ser)
c.2188C>T (p.Pro730Ser)
c.6274C>T (p.Pro2092Ser)
c.5638C>T (p.Pro1880Ser)
c.2428C>T (p.Pro810Ser)
5g.177294063C>ACA362325016NSD1c.5822C>A (p.Pro1941Gln)
c.1337C>A (p.Pro446Gln)
n.6278C>A
n.1111C>A
c.6386C>A (p.Pro2129Gln)
n.6092C>A
c.6695C>A (p.Pro2232Gln)
c.5888C>A (p.Pro1963Gln)
c.2189C>A (p.Pro730Gln)
c.6275C>A (p.Pro2092Gln)
c.5639C>A (p.Pro1880Gln)
c.2429C>A (p.Pro810Gln)
5g.177294063C=CA1603535691NSD1c.5822C= (p.Pro1941=)
c.1337C= (p.Pro446=)
n.6278C=
n.1111C=
c.6386C= (p.Pro2129=)
n.6092C=
c.6695C= (p.Pro2232=)
c.5888C= (p.Pro1963=)
c.2189C= (p.Pro730=)
c.6275C= (p.Pro2092=)
c.5639C= (p.Pro1880=)
c.2429C= (p.Pro810=)
5g.177294063C>GCA362325023NSD1c.5822C>G (p.Pro1941Arg)
c.1337C>G (p.Pro446Arg)
n.6278C>G
n.1111C>G
c.6386C>G (p.Pro2129Arg)
n.6092C>G
c.6695C>G (p.Pro2232Arg)
c.5888C>G (p.Pro1963Arg)
c.2189C>G (p.Pro730Arg)
c.6275C>G (p.Pro2092Arg)
c.5639C>G (p.Pro1880Arg)
c.2429C>G (p.Pro810Arg)
5g.177294063C>TCA362325004NSD1c.5822C>T (p.Pro1941Leu)
c.1337C>T (p.Pro446Leu)
n.6278C>T
n.1111C>T
c.6386C>T (p.Pro2129Leu)
n.6092C>T
c.6695C>T (p.Pro2232Leu)
c.5888C>T (p.Pro1963Leu)
c.2189C>T (p.Pro730Leu)
c.6275C>T (p.Pro2092Leu)
c.5639C>T (p.Pro1880Leu)
c.2429C>T (p.Pro810Leu)
dbSNP gnomAD v2 gnomAD v4
5g.177294064A>CCA447961699NSD1c.5823A>C (p.Pro1941=)
c.1338A>C (p.Pro446=)
n.6279A>C
n.1112A>C
c.6387A>C (p.Pro2129=)
n.6093A>C
c.6696A>C (p.Pro2232=)
c.5889A>C (p.Pro1963=)
c.2190A>C (p.Pro730=)
c.6276A>C (p.Pro2092=)
c.5640A>C (p.Pro1880=)
c.2430A>C (p.Pro810=)
5g.177294064A>GCA447961698NSD1c.5823A>G (p.Pro1941=)
c.1338A>G (p.Pro446=)
n.6279A>G
n.1112A>G
c.6387A>G (p.Pro2129=)
n.6093A>G
c.6696A>G (p.Pro2232=)
c.5889A>G (p.Pro1963=)
c.2190A>G (p.Pro730=)
c.6276A>G (p.Pro2092=)
c.5640A>G (p.Pro1880=)
c.2430A>G (p.Pro810=)
gnomAD v4
5g.177294064A>TCA447961697NSD1c.5823A>T (p.Pro1941=)
c.1338A>T (p.Pro446=)
n.6279A>T
n.1112A>T
c.6387A>T (p.Pro2129=)
n.6093A>T
c.6696A>T (p.Pro2232=)
c.5889A>T (p.Pro1963=)
c.2190A>T (p.Pro730=)
c.6276A>T (p.Pro2092=)
c.5640A>T (p.Pro1880=)
c.2430A>T (p.Pro810=)
5g.177294065A=CA1603535693NSD1c.5824A= (p.Ser1942=)
c.1339A= (p.Ser447=)
n.6280A=
n.1113A=
c.6388A= (p.Ser2130=)
n.6094A=
c.6697A= (p.Ser2233=)
c.5890A= (p.Ser1964=)
c.2191A= (p.Ser731=)
c.6277A= (p.Ser2093=)
c.5641A= (p.Ser1881=)
c.2431A= (p.Ser811=)
5g.177294065A>CCA362325027NSD1c.5824A>C (p.Ser1942Arg)
c.1339A>C (p.Ser447Arg)
n.6280A>C
n.1113A>C
c.6388A>C (p.Ser2130Arg)
n.6094A>C
c.6697A>C (p.Ser2233Arg)
c.5890A>C (p.Ser1964Arg)
c.2191A>C (p.Ser731Arg)
c.6277A>C (p.Ser2093Arg)
c.5641A>C (p.Ser1881Arg)
c.2431A>C (p.Ser811Arg)
5g.177294065A>GCA362325031NSD1c.5824A>G (p.Ser1942Gly)
c.1339A>G (p.Ser447Gly)
n.6280A>G
n.1113A>G
c.6388A>G (p.Ser2130Gly)
n.6094A>G
c.6697A>G (p.Ser2233Gly)
c.5890A>G (p.Ser1964Gly)
c.2191A>G (p.Ser731Gly)
c.6277A>G (p.Ser2093Gly)
c.5641A>G (p.Ser1881Gly)
c.2431A>G (p.Ser811Gly)
dbSNP gnomAD v2 gnomAD v4
5g.177294065A>TCA362325034NSD1c.5824A>T (p.Ser1942Cys)
c.1339A>T (p.Ser447Cys)
n.6280A>T
n.1113A>T
c.6388A>T (p.Ser2130Cys)
n.6094A>T
c.6697A>T (p.Ser2233Cys)
c.5890A>T (p.Ser1964Cys)
c.2191A>T (p.Ser731Cys)
c.6277A>T (p.Ser2093Cys)
c.5641A>T (p.Ser1881Cys)
c.2431A>T (p.Ser811Cys)
5g.177294066G>ACA362325037NSD1c.5825G>A (p.Ser1942Asn)
c.1340G>A (p.Ser447Asn)
n.6281G>A
n.1114G>A
c.6389G>A (p.Ser2130Asn)
n.6095G>A
c.6698G>A (p.Ser2233Asn)
c.5891G>A (p.Ser1964Asn)
c.2192G>A (p.Ser731Asn)
c.6278G>A (p.Ser2093Asn)
c.5642G>A (p.Ser1881Asn)
c.2432G>A (p.Ser811Asn)
dbSNP
5g.177294066G>CCA362325038NSD1c.5825G>C (p.Ser1942Thr)
c.1340G>C (p.Ser447Thr)
n.6281G>C
n.1114G>C
c.6389G>C (p.Ser2130Thr)
n.6095G>C
c.6698G>C (p.Ser2233Thr)
c.5891G>C (p.Ser1964Thr)
c.2192G>C (p.Ser731Thr)
c.6278G>C (p.Ser2093Thr)
c.5642G>C (p.Ser1881Thr)
c.2432G>C (p.Ser811Thr)
5g.177294066G>TCA362325039NSD1c.5825G>T (p.Ser1942Ile)
c.1340G>T (p.Ser447Ile)
n.6281G>T
n.1114G>T
c.6389G>T (p.Ser2130Ile)
n.6095G>T
c.6698G>T (p.Ser2233Ile)
c.5891G>T (p.Ser1964Ile)
c.2192G>T (p.Ser731Ile)
c.6278G>T (p.Ser2093Ile)
c.5642G>T (p.Ser1881Ile)
c.2432G>T (p.Ser811Ile)
5g.177294067C>ACA362325049NSD1c.5826C>A (p.Ser1942Arg)
c.1341C>A (p.Ser447Arg)
n.6282C>A
n.1115C>A
c.6390C>A (p.Ser2130Arg)
n.6096C>A
c.6699C>A (p.Ser2233Arg)
c.5892C>A (p.Ser1964Arg)
c.2193C>A (p.Ser731Arg)
c.6279C>A (p.Ser2093Arg)
c.5643C>A (p.Ser1881Arg)
c.2433C>A (p.Ser811Arg)
5g.177294067C=CA1603535695NSD1c.5826C= (p.Ser1942=)
c.1341C= (p.Ser447=)
n.6282C=
n.1115C=
c.6390C= (p.Ser2130=)
n.6096C=
c.6699C= (p.Ser2233=)
c.5892C= (p.Ser1964=)
c.2193C= (p.Ser731=)
c.6279C= (p.Ser2093=)
c.5643C= (p.Ser1881=)
c.2433C= (p.Ser811=)
5g.177294067C>GCA3578030NSD1c.5826C>G (p.Ser1942Arg)
c.1341C>G (p.Ser447Arg)
n.6282C>G
n.1115C>G
c.6390C>G (p.Ser2130Arg)
n.6096C>G
c.6699C>G (p.Ser2233Arg)
c.5892C>G (p.Ser1964Arg)
c.2193C>G (p.Ser731Arg)
c.6279C>G (p.Ser2093Arg)
c.5643C>G (p.Ser1881Arg)
c.2433C>G (p.Ser811Arg)
dbSNP ExAC gnomAD v2
5g.177294067C>TCA3578029NSD1c.5826C>T (p.Ser1942=)
c.1341C>T (p.Ser447=)
n.6282C>T
n.1115C>T
c.6390C>T (p.Ser2130=)
n.6096C>T
c.6699C>T (p.Ser2233=)
c.5892C>T (p.Ser1964=)
c.2193C>T (p.Ser731=)
c.6279C>T (p.Ser2093=)
c.5643C>T (p.Ser1881=)
c.2433C>T (p.Ser811=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294068A=CA1603535698NSD1c.5827A= (p.Thr1943=)
c.1342A= (p.Thr448=)
n.6283A=
n.1116A=
c.6391A= (p.Thr2131=)
n.6097A=
c.6700A= (p.Thr2234=)
c.5893A= (p.Thr1965=)
c.2194A= (p.Thr732=)
c.6280A= (p.Thr2094=)
c.5644A= (p.Thr1882=)
c.2434A= (p.Thr812=)
5g.177294068A>CCA362325060NSD1c.5827A>C (p.Thr1943Pro)
c.1342A>C (p.Thr448Pro)
n.6283A>C
n.1116A>C
c.6391A>C (p.Thr2131Pro)
n.6097A>C
c.6700A>C (p.Thr2234Pro)
c.5893A>C (p.Thr1965Pro)
c.2194A>C (p.Thr732Pro)
c.6280A>C (p.Thr2094Pro)
c.5644A>C (p.Thr1882Pro)
c.2434A>C (p.Thr812Pro)
5g.177294068A>GCA3578031NSD1c.5827A>G (p.Thr1943Ala)
c.1342A>G (p.Thr448Ala)
n.6283A>G
n.1116A>G
c.6391A>G (p.Thr2131Ala)
n.6097A>G
c.6700A>G (p.Thr2234Ala)
c.5893A>G (p.Thr1965Ala)
c.2194A>G (p.Thr732Ala)
c.6280A>G (p.Thr2094Ala)
c.5644A>G (p.Thr1882Ala)
c.2434A>G (p.Thr812Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177294068A>TCA362325068NSD1c.5827A>T (p.Thr1943Ser)
c.1342A>T (p.Thr448Ser)
n.6283A>T
n.1116A>T
c.6391A>T (p.Thr2131Ser)
n.6097A>T
c.6700A>T (p.Thr2234Ser)
c.5893A>T (p.Thr1965Ser)
c.2194A>T (p.Thr732Ser)
c.6280A>T (p.Thr2094Ser)
c.5644A>T (p.Thr1882Ser)
c.2434A>T (p.Thr812Ser)
5g.177294069C>ACA362325074NSD1c.5828C>A (p.Thr1943Asn)
c.1343C>A (p.Thr448Asn)
n.6284C>A
n.1117C>A
c.6392C>A (p.Thr2131Asn)
n.6098C>A
c.6701C>A (p.Thr2234Asn)
c.5894C>A (p.Thr1965Asn)
c.2195C>A (p.Thr732Asn)
c.6281C>A (p.Thr2094Asn)
c.5645C>A (p.Thr1882Asn)
c.2435C>A (p.Thr812Asn)
5g.177294069C>GCA362325079NSD1c.5828C>G (p.Thr1943Ser)
c.1343C>G (p.Thr448Ser)
n.6284C>G
n.1117C>G
c.6392C>G (p.Thr2131Ser)
n.6098C>G
c.6701C>G (p.Thr2234Ser)
c.5894C>G (p.Thr1965Ser)
c.2195C>G (p.Thr732Ser)
c.6281C>G (p.Thr2094Ser)
c.5645C>G (p.Thr1882Ser)
c.2435C>G (p.Thr812Ser)
ClinVar gnomAD v4
5g.177294069C>TCA362325085NSD1c.5828C>T (p.Thr1943Ile)
c.1343C>T (p.Thr448Ile)
n.6284C>T
n.1117C>T
c.6392C>T (p.Thr2131Ile)
n.6098C>T
c.6701C>T (p.Thr2234Ile)
c.5894C>T (p.Thr1965Ile)
c.2195C>T (p.Thr732Ile)
c.6281C>T (p.Thr2094Ile)
c.5645C>T (p.Thr1882Ile)
c.2435C>T (p.Thr812Ile)
5g.177294070T>ACA447961709NSD1c.5829T>A (p.Thr1943=)
c.1344T>A (p.Thr448=)
n.6285T>A
n.1118T>A
c.6393T>A (p.Thr2131=)
n.6099T>A
c.6702T>A (p.Thr2234=)
c.5895T>A (p.Thr1965=)
c.2196T>A (p.Thr732=)
c.6282T>A (p.Thr2094=)
c.5646T>A (p.Thr1882=)
c.2436T>A (p.Thr812=)
dbSNP
5g.177294070T>CCA447961711NSD1c.5829T>C (p.Thr1943=)
c.1344T>C (p.Thr448=)
n.6285T>C
n.1118T>C
c.6393T>C (p.Thr2131=)
n.6099T>C
c.6702T>C (p.Thr2234=)
c.5895T>C (p.Thr1965=)
c.2196T>C (p.Thr732=)
c.6282T>C (p.Thr2094=)
c.5646T>C (p.Thr1882=)
c.2436T>C (p.Thr812=)
5g.177294070T>GCA447961710NSD1c.5829T>G (p.Thr1943=)
c.1344T>G (p.Thr448=)
n.6285T>G
n.1118T>G
c.6393T>G (p.Thr2131=)
n.6099T>G
c.6702T>G (p.Thr2234=)
c.5895T>G (p.Thr1965=)
c.2196T>G (p.Thr732=)
c.6282T>G (p.Thr2094=)
c.5646T>G (p.Thr1882=)
c.2436T>G (p.Thr812=)
5g.177294071C>ACA362325088NSD1c.5830C>A (p.His1944Asn)
c.1345C>A (p.His449Asn)
n.6286C>A
n.1119C>A
c.6394C>A (p.His2132Asn)
n.6100C>A
c.6703C>A (p.His2235Asn)
c.5896C>A (p.His1966Asn)
c.2197C>A (p.His733Asn)
c.6283C>A (p.His2095Asn)
c.5647C>A (p.His1883Asn)
c.2437C>A (p.His813Asn)
5g.177294071C=CA1603535701NSD1c.5830C= (p.His1944=)
c.1345C= (p.His449=)
n.6286C=
n.1119C=
c.6394C= (p.His2132=)
n.6100C=
c.6703C= (p.His2235=)
c.5896C= (p.His1966=)
c.2197C= (p.His733=)
c.6283C= (p.His2095=)
c.5647C= (p.His1883=)
c.2437C= (p.His813=)
5g.177294071C>GCA362325087NSD1c.5830C>G (p.His1944Asp)
c.1345C>G (p.His449Asp)
n.6286C>G
n.1119C>G
c.6394C>G (p.His2132Asp)
n.6100C>G
c.6703C>G (p.His2235Asp)
c.5896C>G (p.His1966Asp)
c.2197C>G (p.His733Asp)
c.6283C>G (p.His2095Asp)
c.5647C>G (p.His1883Asp)
c.2437C>G (p.His813Asp)
5g.177294071C>TCA362325086NSD1c.5830C>T (p.His1944Tyr)
c.1345C>T (p.His449Tyr)
n.6286C>T
n.1119C>T
c.6394C>T (p.His2132Tyr)
n.6100C>T
c.6703C>T (p.His2235Tyr)
c.5896C>T (p.His1966Tyr)
c.2197C>T (p.His733Tyr)
c.6283C>T (p.His2095Tyr)
c.5647C>T (p.His1883Tyr)
c.2437C>T (p.His813Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177294072A>CCA362325093NSD1c.5831A>C (p.His1944Pro)
c.1346A>C (p.His449Pro)
n.6287A>C
n.1120A>C
c.6395A>C (p.His2132Pro)
n.6101A>C
c.6704A>C (p.His2235Pro)
c.5897A>C (p.His1966Pro)
c.2198A>C (p.His733Pro)
c.6284A>C (p.His2095Pro)
c.5648A>C (p.His1883Pro)
c.2438A>C (p.His813Pro)
5g.177294072A>GCA362325090NSD1c.5831A>G (p.His1944Arg)
c.1346A>G (p.His449Arg)
n.6287A>G
n.1120A>G
c.6395A>G (p.His2132Arg)
n.6101A>G
c.6704A>G (p.His2235Arg)
c.5897A>G (p.His1966Arg)
c.2198A>G (p.His733Arg)
c.6284A>G (p.His2095Arg)
c.5648A>G (p.His1883Arg)
c.2438A>G (p.His813Arg)
5g.177294072A>TCA362325098NSD1c.5831A>T (p.His1944Leu)
c.1346A>T (p.His449Leu)
n.6287A>T
n.1120A>T
c.6395A>T (p.His2132Leu)
n.6101A>T
c.6704A>T (p.His2235Leu)
c.5897A>T (p.His1966Leu)
c.2198A>T (p.His733Leu)
c.6284A>T (p.His2095Leu)
c.5648A>T (p.His1883Leu)
c.2438A>T (p.His813Leu)
5g.177294073C>ACA362325103NSD1c.5832C>A (p.His1944Gln)
c.1347C>A (p.His449Gln)
n.6288C>A
n.1121C>A
c.6396C>A (p.His2132Gln)
n.6102C>A
c.6705C>A (p.His2235Gln)
c.5898C>A (p.His1966Gln)
c.2199C>A (p.His733Gln)
c.6285C>A (p.His2095Gln)
c.5649C>A (p.His1883Gln)
c.2439C>A (p.His813Gln)
dbSNP
5g.177294073C=CA1603535704NSD1c.5832C= (p.His1944=)
c.1347C= (p.His449=)
n.6288C=
n.1121C=
c.6396C= (p.His2132=)
n.6102C=
c.6705C= (p.His2235=)
c.5898C= (p.His1966=)
c.2199C= (p.His733=)
c.6285C= (p.His2095=)
c.5649C= (p.His1883=)
c.2439C= (p.His813=)
5g.177294073C>GCA362325106NSD1c.5832C>G (p.His1944Gln)
c.1347C>G (p.His449Gln)
n.6288C>G
n.1121C>G
c.6396C>G (p.His2132Gln)
n.6102C>G
c.6705C>G (p.His2235Gln)
c.5898C>G (p.His1966Gln)
c.2199C>G (p.His733Gln)
c.6285C>G (p.His2095Gln)
c.5649C>G (p.His1883Gln)
c.2439C>G (p.His813Gln)
gnomAD v4
5g.177294073C>TCA447961717NSD1c.5832C>T (p.His1944=)
c.1347C>T (p.His449=)
n.6288C>T
n.1121C>T
c.6396C>T (p.His2132=)
n.6102C>T
c.6705C>T (p.His2235=)
c.5898C>T (p.His1966=)
c.2199C>T (p.His733=)
c.6285C>T (p.His2095=)
c.5649C>T (p.His1883=)
c.2439C>T (p.His813=)
dbSNP gnomAD v4
5g.177294074C>ACA362325114NSD1c.5833C>A (p.Leu1945Met)
c.1348C>A (p.Leu450Met)
n.6289C>A
n.1122C>A
c.6397C>A (p.Leu2133Met)
n.6103C>A
c.6706C>A (p.Leu2236Met)
c.5899C>A (p.Leu1967Met)
c.2200C>A (p.Leu734Met)
c.6286C>A (p.Leu2096Met)
c.5650C>A (p.Leu1884Met)
c.2440C>A (p.Leu814Met)
5g.177294074C>GCA362325117NSD1c.5833C>G (p.Leu1945Val)
c.1348C>G (p.Leu450Val)
n.6289C>G
n.1122C>G
c.6397C>G (p.Leu2133Val)
n.6103C>G
c.6706C>G (p.Leu2236Val)
c.5899C>G (p.Leu1967Val)
c.2200C>G (p.Leu734Val)
c.6286C>G (p.Leu2096Val)
c.5650C>G (p.Leu1884Val)
c.2440C>G (p.Leu814Val)
gnomAD v4
5g.177294074C>TCA447961719NSD1c.5833C>T (p.Leu1945=)
c.1348C>T (p.Leu450=)
n.6289C>T
n.1122C>T
c.6397C>T (p.Leu2133=)
n.6103C>T
c.6706C>T (p.Leu2236=)
c.5899C>T (p.Leu1967=)
c.2200C>T (p.Leu734=)
c.6286C>T (p.Leu2096=)
c.5650C>T (p.Leu1884=)
c.2440C>T (p.Leu814=)
5g.177294075T>ACA362325120NSD1c.5834T>A (p.Leu1945Gln)
c.1349T>A (p.Leu450Gln)
n.6290T>A
n.1123T>A
c.6398T>A (p.Leu2133Gln)
n.6104T>A
c.6707T>A (p.Leu2236Gln)
c.5900T>A (p.Leu1967Gln)
c.2201T>A (p.Leu734Gln)
c.6287T>A (p.Leu2096Gln)
c.5651T>A (p.Leu1884Gln)
c.2441T>A (p.Leu814Gln)
5g.177294075T>CCA3578032NSD1c.5834T>C (p.Leu1945Pro)
c.1349T>C (p.Leu450Pro)
n.6290T>C
n.1123T>C
c.6398T>C (p.Leu2133Pro)
n.6104T>C
c.6707T>C (p.Leu2236Pro)
c.5900T>C (p.Leu1967Pro)
c.2201T>C (p.Leu734Pro)
c.6287T>C (p.Leu2096Pro)
c.5651T>C (p.Leu1884Pro)
c.2441T>C (p.Leu814Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177294075T>GCA362325127NSD1c.5834T>G (p.Leu1945Arg)
c.1349T>G (p.Leu450Arg)
n.6290T>G
n.1123T>G
c.6398T>G (p.Leu2133Arg)
n.6104T>G
c.6707T>G (p.Leu2236Arg)
c.5900T>G (p.Leu1967Arg)
c.2201T>G (p.Leu734Arg)
c.6287T>G (p.Leu2096Arg)
c.5651T>G (p.Leu1884Arg)
c.2441T>G (p.Leu814Arg)
5g.177294075T=CA1603535706NSD1c.5834T= (p.Leu1945=)
c.1349T= (p.Leu450=)
n.6290T=
n.1123T=
c.6398T= (p.Leu2133=)
n.6104T=
c.6707T= (p.Leu2236=)
c.5900T= (p.Leu1967=)
c.2201T= (p.Leu734=)
c.6287T= (p.Leu2096=)
c.5651T= (p.Leu1884=)
c.2441T= (p.Leu814=)
5g.177294076G>ACA447961722NSD1c.5835G>A (p.Leu1945=)
c.1350G>A (p.Leu450=)
n.6291G>A
n.1124G>A
c.6399G>A (p.Leu2133=)
n.6105G>A
c.6708G>A (p.Leu2236=)
c.5901G>A (p.Leu1967=)
c.2202G>A (p.Leu734=)
c.6288G>A (p.Leu2096=)
c.5652G>A (p.Leu1884=)
c.2442G>A (p.Leu814=)
dbSNP gnomAD v2 gnomAD v4
5g.177294076G>CCA447961723NSD1c.5835G>C (p.Leu1945=)
c.1350G>C (p.Leu450=)
n.6291G>C
n.1124G>C
c.6399G>C (p.Leu2133=)
n.6105G>C
c.6708G>C (p.Leu2236=)
c.5901G>C (p.Leu1967=)
c.2202G>C (p.Leu734=)
c.6288G>C (p.Leu2096=)
c.5652G>C (p.Leu1884=)
c.2442G>C (p.Leu814=)
dbSNP
5g.177294076G=CA1603535708NSD1c.5835G= (p.Leu1945=)
c.1350G= (p.Leu450=)
n.6291G=
n.1124G=
c.6399G= (p.Leu2133=)
n.6105G=
c.6708G= (p.Leu2236=)
c.5901G= (p.Leu1967=)
c.2202G= (p.Leu734=)
c.6288G= (p.Leu2096=)
c.5652G= (p.Leu1884=)
c.2442G= (p.Leu814=)
5g.177294076G>TCA447961724NSD1c.5835G>T (p.Leu1945=)
c.1350G>T (p.Leu450=)
n.6291G>T
n.1124G>T
c.6399G>T (p.Leu2133=)
n.6105G>T
c.6708G>T (p.Leu2236=)
c.5901G>T (p.Leu1967=)
c.2202G>T (p.Leu734=)
c.6288G>T (p.Leu2096=)
c.5652G>T (p.Leu1884=)
c.2442G>T (p.Leu814=)
5g.177294077G>ACA362325132NSD1c.5836G>A (p.Ala1946Thr)
c.1351G>A (p.Ala451Thr)
n.6292G>A
n.1125G>A
c.6400G>A (p.Ala2134Thr)
n.6106G>A
c.6709G>A (p.Ala2237Thr)
c.5902G>A (p.Ala1968Thr)
c.2203G>A (p.Ala735Thr)
c.6289G>A (p.Ala2097Thr)
c.5653G>A (p.Ala1885Thr)
c.2443G>A (p.Ala815Thr)
5g.177294077G>CCA362325135NSD1c.5836G>C (p.Ala1946Pro)
c.1351G>C (p.Ala451Pro)
n.6292G>C
n.1125G>C
c.6400G>C (p.Ala2134Pro)
n.6106G>C
c.6709G>C (p.Ala2237Pro)
c.5902G>C (p.Ala1968Pro)
c.2203G>C (p.Ala735Pro)
c.6289G>C (p.Ala2097Pro)
c.5653G>C (p.Ala1885Pro)
c.2443G>C (p.Ala815Pro)
dbSNP
5g.177294077G=CA1603535710NSD1c.5836G= (p.Ala1946=)
c.1351G= (p.Ala451=)
n.6292G=
n.1125G=
c.6400G= (p.Ala2134=)
n.6106G=
c.6709G= (p.Ala2237=)
c.5902G= (p.Ala1968=)
c.2203G= (p.Ala735=)
c.6289G= (p.Ala2097=)
c.5653G= (p.Ala1885=)
c.2443G= (p.Ala815=)
5g.177294077G>TCA362325138NSD1c.5836G>T (p.Ala1946Ser)
c.1351G>T (p.Ala451Ser)
n.6292G>T
n.1125G>T
c.6400G>T (p.Ala2134Ser)
n.6106G>T
c.6709G>T (p.Ala2237Ser)
c.5902G>T (p.Ala1968Ser)
c.2203G>T (p.Ala735Ser)
c.6289G>T (p.Ala2097Ser)
c.5653G>T (p.Ala1885Ser)
c.2443G>T (p.Ala815Ser)
5g.177294078C>ACA362325143NSD1c.5837C>A (p.Ala1946Glu)
c.1352C>A (p.Ala451Glu)
n.6293C>A
n.1126C>A
c.6401C>A (p.Ala2134Glu)
n.6107C>A
c.6710C>A (p.Ala2237Glu)
c.5903C>A (p.Ala1968Glu)
c.2204C>A (p.Ala735Glu)
c.6290C>A (p.Ala2097Glu)
c.5654C>A (p.Ala1885Glu)
c.2444C>A (p.Ala815Glu)
dbSNP gnomAD v4
5g.177294078C>GCA362325147NSD1c.5837C>G (p.Ala1946Gly)
c.1352C>G (p.Ala451Gly)
n.6293C>G
n.1126C>G
c.6401C>G (p.Ala2134Gly)
n.6107C>G
c.6710C>G (p.Ala2237Gly)
c.5903C>G (p.Ala1968Gly)
c.2204C>G (p.Ala735Gly)
c.6290C>G (p.Ala2097Gly)
c.5654C>G (p.Ala1885Gly)
c.2444C>G (p.Ala815Gly)
5g.177294078C>TCA362325150NSD1c.5837C>T (p.Ala1946Val)
c.1352C>T (p.Ala451Val)
n.6293C>T
n.1126C>T
c.6401C>T (p.Ala2134Val)
n.6107C>T
c.6710C>T (p.Ala2237Val)
c.5903C>T (p.Ala1968Val)
c.2204C>T (p.Ala735Val)
c.6290C>T (p.Ala2097Val)
c.5654C>T (p.Ala1885Val)
c.2444C>T (p.Ala815Val)
dbSNP gnomAD v4
5g.177294079A>CCA447961726NSD1c.5838A>C (p.Ala1946=)
c.1353A>C (p.Ala451=)
n.6294A>C
n.1127A>C
c.6402A>C (p.Ala2134=)
n.6108A>C
c.6711A>C (p.Ala2237=)
c.5904A>C (p.Ala1968=)
c.2205A>C (p.Ala735=)
c.6291A>C (p.Ala2097=)
c.5655A>C (p.Ala1885=)
c.2445A>C (p.Ala815=)
5g.177294079A>GCA447961727NSD1c.5838A>G (p.Ala1946=)
c.1353A>G (p.Ala451=)
n.6294A>G
n.1127A>G
c.6402A>G (p.Ala2134=)
n.6108A>G
c.6711A>G (p.Ala2237=)
c.5904A>G (p.Ala1968=)
c.2205A>G (p.Ala735=)
c.6291A>G (p.Ala2097=)
c.5655A>G (p.Ala1885=)
c.2445A>G (p.Ala815=)
5g.177294079A>TCA447961725NSD1c.5838A>T (p.Ala1946=)
c.1353A>T (p.Ala451=)
n.6294A>T
n.1127A>T
c.6402A>T (p.Ala2134=)
n.6108A>T
c.6711A>T (p.Ala2237=)
c.5904A>T (p.Ala1968=)
c.2205A>T (p.Ala735=)
c.6291A>T (p.Ala2097=)
c.5655A>T (p.Ala1885=)
c.2445A>T (p.Ala815=)
5g.177294080G>ACA362325159NSD1c.5839G>A (p.Glu1947Lys)
c.1354G>A (p.Glu452Lys)
n.6295G>A
n.1128G>A
c.6403G>A (p.Glu2135Lys)
n.6109G>A
c.6712G>A (p.Glu2238Lys)
c.5905G>A (p.Glu1969Lys)
c.2206G>A (p.Glu736Lys)
c.6292G>A (p.Glu2098Lys)
c.5656G>A (p.Glu1886Lys)
c.2446G>A (p.Glu816Lys)
5g.177294080G>CCA3578033NSD1c.5839G>C (p.Glu1947Gln)
c.1354G>C (p.Glu452Gln)
n.6295G>C
n.1128G>C
c.6403G>C (p.Glu2135Gln)
n.6109G>C
c.6712G>C (p.Glu2238Gln)
c.5905G>C (p.Glu1969Gln)
c.2206G>C (p.Glu736Gln)
c.6292G>C (p.Glu2098Gln)
c.5656G>C (p.Glu1886Gln)
c.2446G>C (p.Glu816Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177294080G=CA1603535712NSD1c.5839G= (p.Glu1947=)
c.1354G= (p.Glu452=)
n.6295G=
n.1128G=
c.6403G= (p.Glu2135=)
n.6109G=
c.6712G= (p.Glu2238=)
c.5905G= (p.Glu1969=)
c.2206G= (p.Glu736=)
c.6292G= (p.Glu2098=)
c.5656G= (p.Glu1886=)
c.2446G= (p.Glu816=)
5g.177294080G>TCA362325154NSD1c.5839G>T (p.Glu1947Ter)
c.1354G>T (p.Glu452Ter)
n.6295G>T
n.1128G>T
c.6403G>T (p.Glu2135Ter)
n.6109G>T
c.6712G>T (p.Glu2238Ter)
c.5905G>T (p.Glu1969Ter)
c.2206G>T (p.Glu736Ter)
c.6292G>T (p.Glu2098Ter)
c.5656G>T (p.Glu1886Ter)
c.2446G>T (p.Glu816Ter)
5g.177294081A>CCA362325162NSD1c.5840A>C (p.Glu1947Ala)
c.1355A>C (p.Glu452Ala)
n.6296A>C
n.1129A>C
c.6404A>C (p.Glu2135Ala)
n.6110A>C
c.6713A>C (p.Glu2238Ala)
c.5906A>C (p.Glu1969Ala)
c.2207A>C (p.Glu736Ala)
c.6293A>C (p.Glu2098Ala)
c.5657A>C (p.Glu1886Ala)
c.2447A>C (p.Glu816Ala)
5g.177294081A>GCA362325169NSD1c.5840A>G (p.Glu1947Gly)
c.1355A>G (p.Glu452Gly)
n.6296A>G
n.1129A>G
c.6404A>G (p.Glu2135Gly)
n.6110A>G
c.6713A>G (p.Glu2238Gly)
c.5906A>G (p.Glu1969Gly)
c.2207A>G (p.Glu736Gly)
c.6293A>G (p.Glu2098Gly)
c.5657A>G (p.Glu1886Gly)
c.2447A>G (p.Glu816Gly)
5g.177294081A>TCA362325172NSD1c.5840A>T (p.Glu1947Val)
c.1355A>T (p.Glu452Val)
n.6296A>T
n.1129A>T
c.6404A>T (p.Glu2135Val)
n.6110A>T
c.6713A>T (p.Glu2238Val)
c.5906A>T (p.Glu1969Val)
c.2207A>T (p.Glu736Val)
c.6293A>T (p.Glu2098Val)
c.5657A>T (p.Glu1886Val)
c.2447A>T (p.Glu816Val)
5g.177294082G>ACA447961735NSD1c.5841G>A (p.Glu1947=)
c.1356G>A (p.Glu452=)
n.6297G>A
n.1130G>A
c.6405G>A (p.Glu2135=)
n.6111G>A
c.6714G>A (p.Glu2238=)
c.5907G>A (p.Glu1969=)
c.2208G>A (p.Glu736=)
c.6294G>A (p.Glu2098=)
c.5658G>A (p.Glu1886=)
c.2448G>A (p.Glu816=)
dbSNP gnomAD v2 gnomAD v4
5g.177294082G>CCA362325177NSD1c.5841G>C (p.Glu1947Asp)
c.1356G>C (p.Glu452Asp)
n.6297G>C
n.1130G>C
c.6405G>C (p.Glu2135Asp)
n.6111G>C
c.6714G>C (p.Glu2238Asp)
c.5907G>C (p.Glu1969Asp)
c.2208G>C (p.Glu736Asp)
c.6294G>C (p.Glu2098Asp)
c.5658G>C (p.Glu1886Asp)
c.2448G>C (p.Glu816Asp)
5g.177294082G=CA1603535714NSD1c.5841G= (p.Glu1947=)
c.1356G= (p.Glu452=)
n.6297G=
n.1130G=
c.6405G= (p.Glu2135=)
n.6111G=
c.6714G= (p.Glu2238=)
c.5907G= (p.Glu1969=)
c.2208G= (p.Glu736=)
c.6294G= (p.Glu2098=)
c.5658G= (p.Glu1886=)
c.2448G= (p.Glu816=)
5g.177294082G>TCA362325180NSD1c.5841G>T (p.Glu1947Asp)
c.1356G>T (p.Glu452Asp)
n.6297G>T
n.1130G>T
c.6405G>T (p.Glu2135Asp)
n.6111G>T
c.6714G>T (p.Glu2238Asp)
c.5907G>T (p.Glu1969Asp)
c.2208G>T (p.Glu736Asp)
c.6294G>T (p.Glu2098Asp)
c.5658G>T (p.Glu1886Asp)
c.2448G>T (p.Glu816Asp)
5g.177294083C>ACA362325185NSD1c.5842C>A (p.Gln1948Lys)
c.1357C>A (p.Gln453Lys)
n.6298C>A
n.1131C>A
c.6406C>A (p.Gln2136Lys)
n.6112C>A
c.6715C>A (p.Gln2239Lys)
c.5908C>A (p.Gln1970Lys)
c.2209C>A (p.Gln737Lys)
c.6295C>A (p.Gln2099Lys)
c.5659C>A (p.Gln1887Lys)
c.2449C>A (p.Gln817Lys)
5g.177294083C>GCA362325188NSD1c.5842C>G (p.Gln1948Glu)
c.1357C>G (p.Gln453Glu)
n.6298C>G
n.1131C>G
c.6406C>G (p.Gln2136Glu)
n.6112C>G
c.6715C>G (p.Gln2239Glu)
c.5908C>G (p.Gln1970Glu)
c.2209C>G (p.Gln737Glu)
c.6295C>G (p.Gln2099Glu)
c.5659C>G (p.Gln1887Glu)
c.2449C>G (p.Gln817Glu)
5g.177294083C>TCA362325197NSD1c.5842C>T (p.Gln1948Ter)
c.1357C>T (p.Gln453Ter)
n.6298C>T
n.1131C>T
c.6406C>T (p.Gln2136Ter)
n.6112C>T
c.6715C>T (p.Gln2239Ter)
c.5908C>T (p.Gln1970Ter)
c.2209C>T (p.Gln737Ter)
c.6295C>T (p.Gln2099Ter)
c.5659C>T (p.Gln1887Ter)
c.2449C>T (p.Gln817Ter)
dbSNP
5g.177294084A>CCA362325201NSD1c.5843A>C (p.Gln1948Pro)
c.1358A>C (p.Gln453Pro)
n.6299A>C
n.1132A>C
c.6407A>C (p.Gln2136Pro)
n.6113A>C
c.6716A>C (p.Gln2239Pro)
c.5909A>C (p.Gln1970Pro)
c.2210A>C (p.Gln737Pro)
c.6296A>C (p.Gln2099Pro)
c.5660A>C (p.Gln1887Pro)
c.2450A>C (p.Gln817Pro)
5g.177294084A>GCA362325204NSD1c.5843A>G (p.Gln1948Arg)
c.1358A>G (p.Gln453Arg)
n.6299A>G
n.1132A>G
c.6407A>G (p.Gln2136Arg)
n.6113A>G
c.6716A>G (p.Gln2239Arg)
c.5909A>G (p.Gln1970Arg)
c.2210A>G (p.Gln737Arg)
c.6296A>G (p.Gln2099Arg)
c.5660A>G (p.Gln1887Arg)
c.2450A>G (p.Gln817Arg)
5g.177294084A>TCA362325209NSD1c.5843A>T (p.Gln1948Leu)
c.1358A>T (p.Gln453Leu)
n.6299A>T
n.1132A>T
c.6407A>T (p.Gln2136Leu)
n.6113A>T
c.6716A>T (p.Gln2239Leu)
c.5909A>T (p.Gln1970Leu)
c.2210A>T (p.Gln737Leu)
c.6296A>T (p.Gln2099Leu)
c.5660A>T (p.Gln1887Leu)
c.2450A>T (p.Gln817Leu)
gnomAD v4
5g.177294085A=CA1603535718NSD1c.5844A= (p.Gln1948=)
c.1359A= (p.Gln453=)
n.6300A=
n.1133A=
c.6408A= (p.Gln2136=)
n.6114A=
c.6717A= (p.Gln2239=)
c.5910A= (p.Gln1970=)
c.2211A= (p.Gln737=)
c.6297A= (p.Gln2099=)
c.5661A= (p.Gln1887=)
c.2451A= (p.Gln817=)
5g.177294085A>CCA362325213NSD1c.5844A>C (p.Gln1948His)
c.1359A>C (p.Gln453His)
n.6300A>C
n.1133A>C
c.6408A>C (p.Gln2136His)
n.6114A>C
c.6717A>C (p.Gln2239His)
c.5910A>C (p.Gln1970His)
c.2211A>C (p.Gln737His)
c.6297A>C (p.Gln2099His)
c.5661A>C (p.Gln1887His)
c.2451A>C (p.Gln817His)
dbSNP
5g.177294085A>GCA447961738NSD1c.5844A>G (p.Gln1948=)
c.1359A>G (p.Gln453=)
n.6300A>G
n.1133A>G
c.6408A>G (p.Gln2136=)
n.6114A>G
c.6717A>G (p.Gln2239=)
c.5910A>G (p.Gln1970=)
c.2211A>G (p.Gln737=)
c.6297A>G (p.Gln2099=)
c.5661A>G (p.Gln1887=)
c.2451A>G (p.Gln817=)
5g.177294085A>TCA132862559NSD1c.5844A>T (p.Gln1948His)
c.1359A>T (p.Gln453His)
n.6300A>T
n.1133A>T
c.6408A>T (p.Gln2136His)
n.6114A>T
c.6717A>T (p.Gln2239His)
c.5910A>T (p.Gln1970His)
c.2211A>T (p.Gln737His)
c.6297A>T (p.Gln2099His)
c.5661A>T (p.Gln1887His)
c.2451A>T (p.Gln817His)
dbSNP gnomAD v3 gnomAD v4
5g.177294086T>ACA362325230NSD1c.5845T>A (p.Ser1949Thr)
c.1360T>A (p.Ser454Thr)
n.6301T>A
n.1134T>A
c.6409T>A (p.Ser2137Thr)
n.6115T>A
c.6718T>A (p.Ser2240Thr)
c.5911T>A (p.Ser1971Thr)
c.2212T>A (p.Ser738Thr)
c.6298T>A (p.Ser2100Thr)
c.5662T>A (p.Ser1888Thr)
c.2452T>A (p.Ser818Thr)
5g.177294086T>CCA362325233NSD1c.5845T>C (p.Ser1949Pro)
c.1360T>C (p.Ser454Pro)
n.6301T>C
n.1134T>C
c.6409T>C (p.Ser2137Pro)
n.6115T>C
c.6718T>C (p.Ser2240Pro)
c.5911T>C (p.Ser1971Pro)
c.2212T>C (p.Ser738Pro)
c.6298T>C (p.Ser2100Pro)
c.5662T>C (p.Ser1888Pro)
c.2452T>C (p.Ser818Pro)
5g.177294086T>GCA362325223NSD1c.5845T>G (p.Ser1949Ala)
c.1360T>G (p.Ser454Ala)
n.6301T>G
n.1134T>G
c.6409T>G (p.Ser2137Ala)
n.6115T>G
c.6718T>G (p.Ser2240Ala)
c.5911T>G (p.Ser1971Ala)
c.2212T>G (p.Ser738Ala)
c.6298T>G (p.Ser2100Ala)
c.5662T>G (p.Ser1888Ala)
c.2452T>G (p.Ser818Ala)
5g.177294087C>ACA362325238NSD1c.5846C>A (p.Ser1949Ter)
c.1361C>A (p.Ser454Ter)
n.6302C>A
n.1135C>A
c.6410C>A (p.Ser2137Ter)
n.6116C>A
c.6719C>A (p.Ser2240Ter)
c.5912C>A (p.Ser1971Ter)
c.2213C>A (p.Ser738Ter)
c.6299C>A (p.Ser2100Ter)
c.5663C>A (p.Ser1888Ter)
c.2453C>A (p.Ser818Ter)
COSMIC COSMIC
5g.177294087C=CA1603535721NSD1c.5846C= (p.Ser1949=)
c.1361C= (p.Ser454=)
n.6302C=
n.1135C=
c.6410C= (p.Ser2137=)
n.6116C=
c.6719C= (p.Ser2240=)
c.5912C= (p.Ser1971=)
c.2213C= (p.Ser738=)
c.6299C= (p.Ser2100=)
c.5663C= (p.Ser1888=)
c.2453C= (p.Ser818=)
5g.177294087C>GCA362325241NSD1c.5846C>G (p.Ser1949Ter)
c.1361C>G (p.Ser454Ter)
n.6302C>G
n.1135C>G
c.6410C>G (p.Ser2137Ter)
n.6116C>G
c.6719C>G (p.Ser2240Ter)
c.5912C>G (p.Ser1971Ter)
c.2213C>G (p.Ser738Ter)
c.6299C>G (p.Ser2100Ter)
c.5663C>G (p.Ser1888Ter)
c.2453C>G (p.Ser818Ter)
5g.177294087C>TCA362325244NSD1c.5846C>T (p.Ser1949Leu)
c.1361C>T (p.Ser454Leu)
n.6302C>T
n.1135C>T
c.6410C>T (p.Ser2137Leu)
n.6116C>T
c.6719C>T (p.Ser2240Leu)
c.5912C>T (p.Ser1971Leu)
c.2213C>T (p.Ser738Leu)
c.6299C>T (p.Ser2100Leu)
c.5663C>T (p.Ser1888Leu)
c.2453C>T (p.Ser818Leu)
dbSNP gnomAD v4
5g.177294088A>CCA447961742NSD1c.5847A>C (p.Ser1949=)
c.1362A>C (p.Ser454=)
n.6303A>C
n.1136A>C
c.6411A>C (p.Ser2137=)
n.6117A>C
c.6720A>C (p.Ser2240=)
c.5913A>C (p.Ser1971=)
c.2214A>C (p.Ser738=)
c.6300A>C (p.Ser2100=)
c.5664A>C (p.Ser1888=)
c.2454A>C (p.Ser818=)
5g.177294088A>GCA447961743NSD1c.5847A>G (p.Ser1949=)
c.1362A>G (p.Ser454=)
n.6303A>G
n.1136A>G
c.6411A>G (p.Ser2137=)
n.6117A>G
c.6720A>G (p.Ser2240=)
c.5913A>G (p.Ser1971=)
c.2214A>G (p.Ser738=)
c.6300A>G (p.Ser2100=)
c.5664A>G (p.Ser1888=)
c.2454A>G (p.Ser818=)
5g.177294088A>TCA447961744NSD1c.5847A>T (p.Ser1949=)
c.1362A>T (p.Ser454=)
n.6303A>T
n.1136A>T
c.6411A>T (p.Ser2137=)
n.6117A>T
c.6720A>T (p.Ser2240=)
c.5913A>T (p.Ser1971=)
c.2214A>T (p.Ser738=)
c.6300A>T (p.Ser2100=)
c.5664A>T (p.Ser1888=)
c.2454A>T (p.Ser818=)
5g.177294089A>CCA362325248NSD1c.5848A>C (p.Thr1950Pro)
c.1363A>C (p.Thr455Pro)
n.6304A>C
n.1137A>C
c.6412A>C (p.Thr2138Pro)
n.6118A>C
c.6721A>C (p.Thr2241Pro)
c.5914A>C (p.Thr1972Pro)
c.2215A>C (p.Thr739Pro)
c.6301A>C (p.Thr2101Pro)
c.5665A>C (p.Thr1889Pro)
c.2455A>C (p.Thr819Pro)
5g.177294089A>GCA362325251NSD1c.5848A>G (p.Thr1950Ala)
c.1363A>G (p.Thr455Ala)
n.6304A>G
n.1137A>G
c.6412A>G (p.Thr2138Ala)
n.6118A>G
c.6721A>G (p.Thr2241Ala)
c.5914A>G (p.Thr1972Ala)
c.2215A>G (p.Thr739Ala)
c.6301A>G (p.Thr2101Ala)
c.5665A>G (p.Thr1889Ala)
c.2455A>G (p.Thr819Ala)
5g.177294089A>TCA362325253NSD1c.5848A>T (p.Thr1950Ser)
c.1363A>T (p.Thr455Ser)
n.6304A>T
n.1137A>T
c.6412A>T (p.Thr2138Ser)
n.6118A>T
c.6721A>T (p.Thr2241Ser)
c.5914A>T (p.Thr1972Ser)
c.2215A>T (p.Thr739Ser)
c.6301A>T (p.Thr2101Ser)
c.5665A>T (p.Thr1889Ser)
c.2455A>T (p.Thr819Ser)
5g.177294090C>ACA362325257NSD1c.5849C>A (p.Thr1950Lys)
c.1364C>A (p.Thr455Lys)
n.6305C>A
n.1138C>A
c.6413C>A (p.Thr2138Lys)
n.6119C>A
c.6722C>A (p.Thr2241Lys)
c.5915C>A (p.Thr1972Lys)
c.2216C>A (p.Thr739Lys)
c.6302C>A (p.Thr2101Lys)
c.5666C>A (p.Thr1889Lys)
c.2456C>A (p.Thr819Lys)
5g.177294090C=CA1603535724NSD1c.5849C= (p.Thr1950=)
c.1364C= (p.Thr455=)
n.6305C=
n.1138C=
c.6413C= (p.Thr2138=)
n.6119C=
c.6722C= (p.Thr2241=)
c.5915C= (p.Thr1972=)
c.2216C= (p.Thr739=)
c.6302C= (p.Thr2101=)
c.5666C= (p.Thr1889=)
c.2456C= (p.Thr819=)
5g.177294090C>GCA362325263NSD1c.5849C>G (p.Thr1950Arg)
c.1364C>G (p.Thr455Arg)
n.6305C>G
n.1138C>G
c.6413C>G (p.Thr2138Arg)
n.6119C>G
c.6722C>G (p.Thr2241Arg)
c.5915C>G (p.Thr1972Arg)
c.2216C>G (p.Thr739Arg)
c.6302C>G (p.Thr2101Arg)
c.5666C>G (p.Thr1889Arg)
c.2456C>G (p.Thr819Arg)
5g.177294090C>TCA362325265NSD1c.5849C>T (p.Thr1950Ile)
c.1364C>T (p.Thr455Ile)
n.6305C>T
n.1138C>T
c.6413C>T (p.Thr2138Ile)
n.6119C>T
c.6722C>T (p.Thr2241Ile)
c.5915C>T (p.Thr1972Ile)
c.2216C>T (p.Thr739Ile)
c.6302C>T (p.Thr2101Ile)
c.5666C>T (p.Thr1889Ile)
c.2456C>T (p.Thr819Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177294091A>CCA447961749NSD1c.5850A>C (p.Thr1950=)
c.1365A>C (p.Thr455=)
n.6306A>C
n.1139A>C
c.6414A>C (p.Thr2138=)
n.6120A>C
c.6723A>C (p.Thr2241=)
c.5916A>C (p.Thr1972=)
c.2217A>C (p.Thr739=)
c.6303A>C (p.Thr2101=)
c.5667A>C (p.Thr1889=)
c.2457A>C (p.Thr819=)
5g.177294091A>GCA447961751NSD1c.5850A>G (p.Thr1950=)
c.1365A>G (p.Thr455=)
n.6306A>G
n.1139A>G
c.6414A>G (p.Thr2138=)
n.6120A>G
c.6723A>G (p.Thr2241=)
c.5916A>G (p.Thr1972=)
c.2217A>G (p.Thr739=)
c.6303A>G (p.Thr2101=)
c.5667A>G (p.Thr1889=)
c.2457A>G (p.Thr819=)
5g.177294091A>TCA447961750NSD1c.5850A>T (p.Thr1950=)
c.1365A>T (p.Thr455=)
n.6306A>T
n.1139A>T
c.6414A>T (p.Thr2138=)
n.6120A>T
c.6723A>T (p.Thr2241=)
c.5916A>T (p.Thr1972=)
c.2217A>T (p.Thr739=)
c.6303A>T (p.Thr2101=)
c.5667A>T (p.Thr1889=)
c.2457A>T (p.Thr819=)
5g.177294092G>ACA362325271NSD1c.5851G>A (p.Gly1951Arg)
c.1366G>A (p.Gly456Arg)
n.6307G>A
n.1140G>A
c.6415G>A (p.Gly2139Arg)
n.6121G>A
c.6724G>A (p.Gly2242Arg)
c.5917G>A (p.Gly1973Arg)
c.2218G>A (p.Gly740Arg)
c.6304G>A (p.Gly2102Arg)
c.5668G>A (p.Gly1890Arg)
c.2458G>A (p.Gly820Arg)
5g.177294092G>CCA362325275NSD1c.5851G>C (p.Gly1951Arg)
c.1366G>C (p.Gly456Arg)
n.6307G>C
n.1140G>C
c.6415G>C (p.Gly2139Arg)
n.6121G>C
c.6724G>C (p.Gly2242Arg)
c.5917G>C (p.Gly1973Arg)
c.2218G>C (p.Gly740Arg)
c.6304G>C (p.Gly2102Arg)
c.5668G>C (p.Gly1890Arg)
c.2458G>C (p.Gly820Arg)
5g.177294092G>TCA362325278NSD1c.5851G>T (p.Gly1951Ter)
c.1366G>T (p.Gly456Ter)
n.6307G>T
n.1140G>T
c.6415G>T (p.Gly2139Ter)
n.6121G>T
c.6724G>T (p.Gly2242Ter)
c.5917G>T (p.Gly1973Ter)
c.2218G>T (p.Gly740Ter)
c.6304G>T (p.Gly2102Ter)
c.5668G>T (p.Gly1890Ter)
c.2458G>T (p.Gly820Ter)
5g.177294093G>ACA362325292NSD1c.5852G>A (p.Gly1951Glu)
c.1367G>A (p.Gly456Glu)
n.6308G>A
n.1141G>A
c.6416G>A (p.Gly2139Glu)
n.6122G>A
c.6725G>A (p.Gly2242Glu)
c.5918G>A (p.Gly1973Glu)
c.2219G>A (p.Gly740Glu)
c.6305G>A (p.Gly2102Glu)
c.5669G>A (p.Gly1890Glu)
c.2459G>A (p.Gly820Glu)
5g.177294093G>CCA362325283NSD1c.5852G>C (p.Gly1951Ala)
c.1367G>C (p.Gly456Ala)
n.6308G>C
n.1141G>C
c.6416G>C (p.Gly2139Ala)
n.6122G>C
c.6725G>C (p.Gly2242Ala)
c.5918G>C (p.Gly1973Ala)
c.2219G>C (p.Gly740Ala)
c.6305G>C (p.Gly2102Ala)
c.5669G>C (p.Gly1890Ala)
c.2459G>C (p.Gly820Ala)
5g.177294093G>TCA362325289NSD1c.5852G>T (p.Gly1951Val)
c.1367G>T (p.Gly456Val)
n.6308G>T
n.1141G>T
c.6416G>T (p.Gly2139Val)
n.6122G>T
c.6725G>T (p.Gly2242Val)
c.5918G>T (p.Gly1973Val)
c.2219G>T (p.Gly740Val)
c.6305G>T (p.Gly2102Val)
c.5669G>T (p.Gly1890Val)
c.2459G>T (p.Gly820Val)
gnomAD v4
5g.177294094A>CCA447961757NSD1c.5853A>C (p.Gly1951=)
c.1368A>C (p.Gly456=)
n.6309A>C
n.1142A>C
c.6417A>C (p.Gly2139=)
n.6123A>C
c.6726A>C (p.Gly2242=)
c.5919A>C (p.Gly1973=)
c.2220A>C (p.Gly740=)
c.6306A>C (p.Gly2102=)
c.5670A>C (p.Gly1890=)
c.2460A>C (p.Gly820=)
5g.177294094A>GCA447961758NSD1c.5853A>G (p.Gly1951=)
c.1368A>G (p.Gly456=)
n.6309A>G
n.1142A>G
c.6417A>G (p.Gly2139=)
n.6123A>G
c.6726A>G (p.Gly2242=)
c.5919A>G (p.Gly1973=)
c.2220A>G (p.Gly740=)
c.6306A>G (p.Gly2102=)
c.5670A>G (p.Gly1890=)
c.2460A>G (p.Gly820=)
5g.177294094A>TCA447961759NSD1c.5853A>T (p.Gly1951=)
c.1368A>T (p.Gly456=)
n.6309A>T
n.1142A>T
c.6417A>T (p.Gly2139=)
n.6123A>T
c.6726A>T (p.Gly2242=)
c.5919A>T (p.Gly1973=)
c.2220A>T (p.Gly740=)
c.6306A>T (p.Gly2102=)
c.5670A>T (p.Gly1890=)
c.2460A>T (p.Gly820=)
5g.177294095A>CCA362325297NSD1c.5854A>C (p.Met1952Leu)
c.1369A>C (p.Met457Leu)
n.6310A>C
n.1143A>C
c.6418A>C (p.Met2140Leu)
n.6124A>C
c.6727A>C (p.Met2243Leu)
c.5920A>C (p.Met1974Leu)
c.2221A>C (p.Met741Leu)
c.6307A>C (p.Met2103Leu)
c.5671A>C (p.Met1891Leu)
c.2461A>C (p.Met821Leu)
5g.177294095A>GCA362325300NSD1c.5854A>G (p.Met1952Val)
c.1369A>G (p.Met457Val)
n.6310A>G
n.1143A>G
c.6418A>G (p.Met2140Val)
n.6124A>G
c.6727A>G (p.Met2243Val)
c.5920A>G (p.Met1974Val)
c.2221A>G (p.Met741Val)
c.6307A>G (p.Met2103Val)
c.5671A>G (p.Met1891Val)
c.2461A>G (p.Met821Val)
5g.177294095A>TCA362325304NSD1c.5854A>T (p.Met1952Leu)
c.1369A>T (p.Met457Leu)
n.6310A>T
n.1143A>T
c.6418A>T (p.Met2140Leu)
n.6124A>T
c.6727A>T (p.Met2243Leu)
c.5920A>T (p.Met1974Leu)
c.2221A>T (p.Met741Leu)
c.6307A>T (p.Met2103Leu)
c.5671A>T (p.Met1891Leu)
c.2461A>T (p.Met821Leu)
5g.177294096T>ACA362325310NSD1c.5855T>A (p.Met1952Lys)
c.1370T>A (p.Met457Lys)
n.6311T>A
n.1144T>A
c.6419T>A (p.Met2140Lys)
n.6125T>A
c.6728T>A (p.Met2243Lys)
c.5921T>A (p.Met1974Lys)
c.2222T>A (p.Met741Lys)
c.6308T>A (p.Met2103Lys)
c.5672T>A (p.Met1891Lys)
c.2462T>A (p.Met821Lys)
5g.177294096T>CCA362325314NSD1c.5855T>C (p.Met1952Thr)
c.1370T>C (p.Met457Thr)
n.6311T>C
n.1144T>C
c.6419T>C (p.Met2140Thr)
n.6125T>C
c.6728T>C (p.Met2243Thr)
c.5921T>C (p.Met1974Thr)
c.2222T>C (p.Met741Thr)
c.6308T>C (p.Met2103Thr)
c.5672T>C (p.Met1891Thr)
c.2462T>C (p.Met821Thr)
5g.177294096T>GCA362325318NSD1c.5855T>G (p.Met1952Arg)
c.1370T>G (p.Met457Arg)
n.6311T>G
n.1144T>G
c.6419T>G (p.Met2140Arg)
n.6125T>G
c.6728T>G (p.Met2243Arg)
c.5921T>G (p.Met1974Arg)
c.2222T>G (p.Met741Arg)
c.6308T>G (p.Met2103Arg)
c.5672T>G (p.Met1891Arg)
c.2462T>G (p.Met821Arg)
5g.177294097G>ACA362325320NSD1c.5856G>A (p.Met1952Ile)
c.1371G>A (p.Met457Ile)
n.6312G>A
n.1145G>A
c.6420G>A (p.Met2140Ile)
n.6126G>A
c.6729G>A (p.Met2243Ile)
c.5922G>A (p.Met1974Ile)
c.2223G>A (p.Met741Ile)
c.6309G>A (p.Met2103Ile)
c.5673G>A (p.Met1891Ile)
c.2463G>A (p.Met821Ile)
5g.177294097G>CCA362325323NSD1c.5856G>C (p.Met1952Ile)
c.1371G>C (p.Met457Ile)
n.6312G>C
n.1145G>C
c.6420G>C (p.Met2140Ile)
n.6126G>C
c.6729G>C (p.Met2243Ile)
c.5922G>C (p.Met1974Ile)
c.2223G>C (p.Met741Ile)
c.6309G>C (p.Met2103Ile)
c.5673G>C (p.Met1891Ile)
c.2463G>C (p.Met821Ile)
5g.177294097G>TCA362325334NSD1c.5856G>T (p.Met1952Ile)
c.1371G>T (p.Met457Ile)
n.6312G>T
n.1145G>T
c.6420G>T (p.Met2140Ile)
n.6126G>T
c.6729G>T (p.Met2243Ile)
c.5922G>T (p.Met1974Ile)
c.2223G>T (p.Met741Ile)
c.6309G>T (p.Met2103Ile)
c.5673G>T (p.Met1891Ile)
c.2463G>T (p.Met821Ile)
5g.177294098G>ACA3578034NSD1c.5857G>A (p.Ala1953Thr)
c.1372G>A (p.Ala458Thr)
n.6313G>A
n.1146G>A
c.6421G>A (p.Ala2141Thr)
n.6127G>A
c.6730G>A (p.Ala2244Thr)
c.5923G>A (p.Ala1975Thr)
c.2224G>A (p.Ala742Thr)
c.6310G>A (p.Ala2104Thr)
c.5674G>A (p.Ala1892Thr)
c.2464G>A (p.Ala822Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177294098G>CCA362325343NSD1c.5857G>C (p.Ala1953Pro)
c.1372G>C (p.Ala458Pro)
n.6313G>C
n.1146G>C
c.6421G>C (p.Ala2141Pro)
n.6127G>C
c.6730G>C (p.Ala2244Pro)
c.5923G>C (p.Ala1975Pro)
c.2224G>C (p.Ala742Pro)
c.6310G>C (p.Ala2104Pro)
c.5674G>C (p.Ala1892Pro)
c.2464G>C (p.Ala822Pro)
5g.177294098G=CA1603535727NSD1c.5857G= (p.Ala1953=)
c.1372G= (p.Ala458=)
n.6313G=
n.1146G=
c.6421G= (p.Ala2141=)
n.6127G=
c.6730G= (p.Ala2244=)
c.5923G= (p.Ala1975=)
c.2224G= (p.Ala742=)
c.6310G= (p.Ala2104=)
c.5674G= (p.Ala1892=)
c.2464G= (p.Ala822=)
5g.177294098G>TCA362325346NSD1c.5857G>T (p.Ala1953Ser)
c.1372G>T (p.Ala458Ser)
n.6313G>T
n.1146G>T
c.6421G>T (p.Ala2141Ser)
n.6127G>T
c.6730G>T (p.Ala2244Ser)
c.5923G>T (p.Ala1975Ser)
c.2224G>T (p.Ala742Ser)
c.6310G>T (p.Ala2104Ser)
c.5674G>T (p.Ala1892Ser)
c.2464G>T (p.Ala822Ser)
5g.177294101_177294103delCA2676692108NSD1c.5860_5862del (p.Ala1954del)
c.1375_1377del (p.Ala459del)
n.6316_6318del
n.1149_1151del
c.6424_6426del (p.Ala2142del)
n.6130_6132del
c.6733_6735del (p.Ala2245del)
c.5926_5928del (p.Ala1976del)
c.2227_2229del (p.Ala743del)
c.6313_6315del (p.Ala2105del)
c.5677_5679del (p.Ala1893del)
c.2467_2469del (p.Ala823del)
gnomAD v4
5g.177294099C>ACA362325357NSD1c.5858C>A (p.Ala1953Asp)
c.1373C>A (p.Ala458Asp)
n.6314C>A
n.1147C>A
c.6422C>A (p.Ala2141Asp)
n.6128C>A
c.6731C>A (p.Ala2244Asp)
c.5924C>A (p.Ala1975Asp)
c.2225C>A (p.Ala742Asp)
c.6311C>A (p.Ala2104Asp)
c.5675C>A (p.Ala1892Asp)
c.2465C>A (p.Ala822Asp)
5g.177294099C>GCA362325355NSD1c.5858C>G (p.Ala1953Gly)
c.1373C>G (p.Ala458Gly)
n.6314C>G
n.1147C>G
c.6422C>G (p.Ala2141Gly)
n.6128C>G
c.6731C>G (p.Ala2244Gly)
c.5924C>G (p.Ala1975Gly)
c.2225C>G (p.Ala742Gly)
c.6311C>G (p.Ala2104Gly)
c.5675C>G (p.Ala1892Gly)
c.2465C>G (p.Ala822Gly)
5g.177294099C>TCA362325351NSD1c.5858C>T (p.Ala1953Val)
c.1373C>T (p.Ala458Val)
n.6314C>T
n.1147C>T
c.6422C>T (p.Ala2141Val)
n.6128C>T
c.6731C>T (p.Ala2244Val)
c.5924C>T (p.Ala1975Val)
c.2225C>T (p.Ala742Val)
c.6311C>T (p.Ala2104Val)
c.5675C>T (p.Ala1892Val)
c.2465C>T (p.Ala822Val)
5g.177294100T>ACA447961768NSD1c.5859T>A (p.Ala1953=)
c.1374T>A (p.Ala458=)
n.6315T>A
n.1148T>A
c.6423T>A (p.Ala2141=)
n.6129T>A
c.6732T>A (p.Ala2244=)
c.5925T>A (p.Ala1975=)
c.2226T>A (p.Ala742=)
c.6312T>A (p.Ala2104=)
c.5676T>A (p.Ala1892=)
c.2466T>A (p.Ala822=)
5g.177294100T>CCA447961770NSD1c.5859T>C (p.Ala1953=)
c.1374T>C (p.Ala458=)
n.6315T>C
n.1148T>C
c.6423T>C (p.Ala2141=)
n.6129T>C
c.6732T>C (p.Ala2244=)
c.5925T>C (p.Ala1975=)
c.2226T>C (p.Ala742=)
c.6312T>C (p.Ala2104=)
c.5676T>C (p.Ala1892=)
c.2466T>C (p.Ala822=)
5g.177294100T>GCA447961767NSD1c.5859T>G (p.Ala1953=)
c.1374T>G (p.Ala458=)
n.6315T>G
n.1148T>G
c.6423T>G (p.Ala2141=)
n.6129T>G
c.6732T>G (p.Ala2244=)
c.5925T>G (p.Ala1975=)
c.2226T>G (p.Ala742=)
c.6312T>G (p.Ala2104=)
c.5676T>G (p.Ala1892=)
c.2466T>G (p.Ala822=)
5g.177294101G>ACA362325365NSD1c.5860G>A (p.Ala1954Thr)
c.1375G>A (p.Ala459Thr)
n.6316G>A
n.1149G>A
c.6424G>A (p.Ala2142Thr)
n.6130G>A
c.6733G>A (p.Ala2245Thr)
c.5926G>A (p.Ala1976Thr)
c.2227G>A (p.Ala743Thr)
c.6313G>A (p.Ala2105Thr)
c.5677G>A (p.Ala1893Thr)
c.2467G>A (p.Ala823Thr)
ClinVar dbSNP gnomAD v4
5g.177294101G>CCA362325363NSD1c.5860G>C (p.Ala1954Pro)
c.1375G>C (p.Ala459Pro)
n.6316G>C
n.1149G>C
c.6424G>C (p.Ala2142Pro)
n.6130G>C
c.6733G>C (p.Ala2245Pro)
c.5926G>C (p.Ala1976Pro)
c.2227G>C (p.Ala743Pro)
c.6313G>C (p.Ala2105Pro)
c.5677G>C (p.Ala1893Pro)
c.2467G>C (p.Ala823Pro)
5g.177294101G=CA1603535731NSD1c.5860G= (p.Ala1954=)
c.1375G= (p.Ala459=)
n.6316G=
n.1149G=
c.6424G= (p.Ala2142=)
n.6130G=
c.6733G= (p.Ala2245=)
c.5926G= (p.Ala1976=)
c.2227G= (p.Ala743=)
c.6313G= (p.Ala2105=)
c.5677G= (p.Ala1893=)
c.2467G= (p.Ala823=)
5g.177294101G>TCA362325368NSD1c.5860G>T (p.Ala1954Ser)
c.1375G>T (p.Ala459Ser)
n.6316G>T
n.1149G>T
c.6424G>T (p.Ala2142Ser)
n.6130G>T
c.6733G>T (p.Ala2245Ser)
c.5926G>T (p.Ala1976Ser)
c.2227G>T (p.Ala743Ser)
c.6313G>T (p.Ala2105Ser)
c.5677G>T (p.Ala1893Ser)
c.2467G>T (p.Ala823Ser)
5g.177294102C>ACA362325372NSD1c.5861C>A (p.Ala1954Asp)
c.1376C>A (p.Ala459Asp)
n.6317C>A
n.1150C>A
c.6425C>A (p.Ala2142Asp)
n.6131C>A
c.6734C>A (p.Ala2245Asp)
c.5927C>A (p.Ala1976Asp)
c.2228C>A (p.Ala743Asp)
c.6314C>A (p.Ala2105Asp)
c.5678C>A (p.Ala1893Asp)
c.2468C>A (p.Ala823Asp)
5g.177294102C=CA1603535735NSD1c.5861C= (p.Ala1954=)
c.1376C= (p.Ala459=)
n.6317C=
n.1150C=
c.6425C= (p.Ala2142=)
n.6131C=
c.6734C= (p.Ala2245=)
c.5927C= (p.Ala1976=)
c.2228C= (p.Ala743=)
c.6314C= (p.Ala2105=)
c.5678C= (p.Ala1893=)
c.2468C= (p.Ala823=)
5g.177294102C>GCA362325380NSD1c.5861C>G (p.Ala1954Gly)
c.1376C>G (p.Ala459Gly)
n.6317C>G
n.1150C>G
c.6425C>G (p.Ala2142Gly)
n.6131C>G
c.6734C>G (p.Ala2245Gly)
c.5927C>G (p.Ala1976Gly)
c.2228C>G (p.Ala743Gly)
c.6314C>G (p.Ala2105Gly)
c.5678C>G (p.Ala1893Gly)
c.2468C>G (p.Ala823Gly)
5g.177294102C>TCA3578035NSD1c.5861C>T (p.Ala1954Val)
c.1376C>T (p.Ala459Val)
n.6317C>T
n.1150C>T
c.6425C>T (p.Ala2142Val)
n.6131C>T
c.6734C>T (p.Ala2245Val)
c.5927C>T (p.Ala1976Val)
c.2228C>T (p.Ala743Val)
c.6314C>T (p.Ala2105Val)
c.5678C>T (p.Ala1893Val)
c.2468C>T (p.Ala823Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294103T>ACA447961773NSD1c.5862T>A (p.Ala1954=)
c.1377T>A (p.Ala459=)
n.6318T>A
n.1151T>A
c.6426T>A (p.Ala2142=)
n.6132T>A
c.6735T>A (p.Ala2245=)
c.5928T>A (p.Ala1976=)
c.2229T>A (p.Ala743=)
c.6315T>A (p.Ala2105=)
c.5679T>A (p.Ala1893=)
c.2469T>A (p.Ala823=)
5g.177294103T>CCA447961774NSD1c.5862T>C (p.Ala1954=)
c.1377T>C (p.Ala459=)
n.6318T>C
n.1151T>C
c.6426T>C (p.Ala2142=)
n.6132T>C
c.6735T>C (p.Ala2245=)
c.5928T>C (p.Ala1976=)
c.2229T>C (p.Ala743=)
c.6315T>C (p.Ala2105=)
c.5679T>C (p.Ala1893=)
c.2469T>C (p.Ala823=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177294103T>GCA447961775NSD1c.5862T>G (p.Ala1954=)
c.1377T>G (p.Ala459=)
n.6318T>G
n.1151T>G
c.6426T>G (p.Ala2142=)
n.6132T>G
c.6735T>G (p.Ala2245=)
c.5928T>G (p.Ala1976=)
c.2229T>G (p.Ala743=)
c.6315T>G (p.Ala2105=)
c.5679T>G (p.Ala1893=)
c.2469T>G (p.Ala823=)
5g.177294103T=CA1603535740NSD1c.5862T= (p.Ala1954=)
c.1377T= (p.Ala459=)
n.6318T=
n.1151T=
c.6426T= (p.Ala2142=)
n.6132T=
c.6735T= (p.Ala2245=)
c.5928T= (p.Ala1976=)
c.2229T= (p.Ala743=)
c.6315T= (p.Ala2105=)
c.5679T= (p.Ala1893=)
c.2469T= (p.Ala823=)
5g.177294104C>ACA362325386NSD1c.5863C>A (p.Gln1955Lys)
c.1378C>A (p.Gln460Lys)
n.6319C>A
n.1152C>A
c.6427C>A (p.Gln2143Lys)
n.6133C>A
c.6736C>A (p.Gln2246Lys)
c.5929C>A (p.Gln1977Lys)
c.2230C>A (p.Gln744Lys)
c.6316C>A (p.Gln2106Lys)
c.5680C>A (p.Gln1894Lys)
c.2470C>A (p.Gln824Lys)
gnomAD v4
5g.177294104C>GCA362325387NSD1c.5863C>G (p.Gln1955Glu)
c.1378C>G (p.Gln460Glu)
n.6319C>G
n.1152C>G
c.6427C>G (p.Gln2143Glu)
n.6133C>G
c.6736C>G (p.Gln2246Glu)
c.5929C>G (p.Gln1977Glu)
c.2230C>G (p.Gln744Glu)
c.6316C>G (p.Gln2106Glu)
c.5680C>G (p.Gln1894Glu)
c.2470C>G (p.Gln824Glu)
5g.177294104C>TCA362325389NSD1c.5863C>T (p.Gln1955Ter)
c.1378C>T (p.Gln460Ter)
n.6319C>T
n.1152C>T
c.6427C>T (p.Gln2143Ter)
n.6133C>T
c.6736C>T (p.Gln2246Ter)
c.5929C>T (p.Gln1977Ter)
c.2230C>T (p.Gln744Ter)
c.6316C>T (p.Gln2106Ter)
c.5680C>T (p.Gln1894Ter)
c.2470C>T (p.Gln824Ter)
5g.177294105A>CCA362325400NSD1c.5864A>C (p.Gln1955Pro)
c.1379A>C (p.Gln460Pro)
n.6320A>C
n.1153A>C
c.6428A>C (p.Gln2143Pro)
n.6134A>C
c.6737A>C (p.Gln2246Pro)
c.5930A>C (p.Gln1977Pro)
c.2231A>C (p.Gln744Pro)
c.6317A>C (p.Gln2106Pro)
c.5681A>C (p.Gln1894Pro)
c.2471A>C (p.Gln824Pro)
5g.177294105A>GCA362325394NSD1c.5864A>G (p.Gln1955Arg)
c.1379A>G (p.Gln460Arg)
n.6320A>G
n.1153A>G
c.6428A>G (p.Gln2143Arg)
n.6134A>G
c.6737A>G (p.Gln2246Arg)
c.5930A>G (p.Gln1977Arg)
c.2231A>G (p.Gln744Arg)
c.6317A>G (p.Gln2106Arg)
c.5681A>G (p.Gln1894Arg)
c.2471A>G (p.Gln824Arg)
dbSNP
5g.177294105A>TCA362325397NSD1c.5864A>T (p.Gln1955Leu)
c.1379A>T (p.Gln460Leu)
n.6320A>T
n.1153A>T
c.6428A>T (p.Gln2143Leu)
n.6134A>T
c.6737A>T (p.Gln2246Leu)
c.5930A>T (p.Gln1977Leu)
c.2231A>T (p.Gln744Leu)
c.6317A>T (p.Gln2106Leu)
c.5681A>T (p.Gln1894Leu)
c.2471A>T (p.Gln824Leu)
5g.177294106G>ACA447961780NSD1c.5865G>A (p.Gln1955=)
c.1380G>A (p.Gln460=)
n.6321G>A
n.1154G>A
c.6429G>A (p.Gln2143=)
n.6135G>A
c.6738G>A (p.Gln2246=)
c.5931G>A (p.Gln1977=)
c.2232G>A (p.Gln744=)
c.6318G>A (p.Gln2106=)
c.5682G>A (p.Gln1894=)
c.2472G>A (p.Gln824=)
5g.177294106G>CCA362325405NSD1c.5865G>C (p.Gln1955His)
c.1380G>C (p.Gln460His)
n.6321G>C
n.1154G>C
c.6429G>C (p.Gln2143His)
n.6135G>C
c.6738G>C (p.Gln2246His)
c.5931G>C (p.Gln1977His)
c.2232G>C (p.Gln744His)
c.6318G>C (p.Gln2106His)
c.5682G>C (p.Gln1894His)
c.2472G>C (p.Gln824His)
5g.177294106G>TCA362325408NSD1c.5865G>T (p.Gln1955His)
c.1380G>T (p.Gln460His)
n.6321G>T
n.1154G>T
c.6429G>T (p.Gln2143His)
n.6135G>T
c.6738G>T (p.Gln2246His)
c.5931G>T (p.Gln1977His)
c.2232G>T (p.Gln744His)
c.6318G>T (p.Gln2106His)
c.5682G>T (p.Gln1894His)
c.2472G>T (p.Gln824His)
COSMIC COSMIC
5g.177294107G>ACA362325415NSD1c.5866G>A (p.Ala1956Thr)
c.1381G>A (p.Ala461Thr)
n.6322G>A
n.1155G>A
c.6430G>A (p.Ala2144Thr)
n.6136G>A
c.6739G>A (p.Ala2247Thr)
c.5932G>A (p.Ala1978Thr)
c.2233G>A (p.Ala745Thr)
c.6319G>A (p.Ala2107Thr)
c.5683G>A (p.Ala1895Thr)
c.2473G>A (p.Ala825Thr)
dbSNP COSMIC COSMIC
5g.177294107G>CCA362325420NSD1c.5866G>C (p.Ala1956Pro)
c.1381G>C (p.Ala461Pro)
n.6322G>C
n.1155G>C
c.6430G>C (p.Ala2144Pro)
n.6136G>C
c.6739G>C (p.Ala2247Pro)
c.5932G>C (p.Ala1978Pro)
c.2233G>C (p.Ala745Pro)
c.6319G>C (p.Ala2107Pro)
c.5683G>C (p.Ala1895Pro)
c.2473G>C (p.Ala825Pro)
5g.177294107G>TCA362325423NSD1c.5866G>T (p.Ala1956Ser)
c.1381G>T (p.Ala461Ser)
n.6322G>T
n.1155G>T
c.6430G>T (p.Ala2144Ser)
n.6136G>T
c.6739G>T (p.Ala2247Ser)
c.5932G>T (p.Ala1978Ser)
c.2233G>T (p.Ala745Ser)
c.6319G>T (p.Ala2107Ser)
c.5683G>T (p.Ala1895Ser)
c.2473G>T (p.Ala825Ser)
5g.177294108C>ACA362325431NSD1c.5867C>A (p.Ala1956Glu)
c.1382C>A (p.Ala461Glu)
n.6323C>A
n.1156C>A
c.6431C>A (p.Ala2144Glu)
n.6137C>A
c.6740C>A (p.Ala2247Glu)
c.5933C>A (p.Ala1978Glu)
c.2234C>A (p.Ala745Glu)
c.6320C>A (p.Ala2107Glu)
c.5684C>A (p.Ala1895Glu)
c.2474C>A (p.Ala825Glu)
5g.177294108C=CA1603535743NSD1c.5867C= (p.Ala1956=)
c.1382C= (p.Ala461=)
n.6323C=
n.1156C=
c.6431C= (p.Ala2144=)
n.6137C=
c.6740C= (p.Ala2247=)
c.5933C= (p.Ala1978=)
c.2234C= (p.Ala745=)
c.6320C= (p.Ala2107=)
c.5684C= (p.Ala1895=)
c.2474C= (p.Ala825=)
5g.177294108C>GCA362325438NSD1c.5867C>G (p.Ala1956Gly)
c.1382C>G (p.Ala461Gly)
n.6323C>G
n.1156C>G
c.6431C>G (p.Ala2144Gly)
n.6137C>G
c.6740C>G (p.Ala2247Gly)
c.5933C>G (p.Ala1978Gly)
c.2234C>G (p.Ala745Gly)
c.6320C>G (p.Ala2107Gly)
c.5684C>G (p.Ala1895Gly)
c.2474C>G (p.Ala825Gly)
5g.177294108C>TCA362325433NSD1c.5867C>T (p.Ala1956Val)
c.1382C>T (p.Ala461Val)
n.6323C>T
n.1156C>T
c.6431C>T (p.Ala2144Val)
n.6137C>T
c.6740C>T (p.Ala2247Val)
c.5933C>T (p.Ala1978Val)
c.2234C>T (p.Ala745Val)
c.6320C>T (p.Ala2107Val)
c.5684C>T (p.Ala1895Val)
c.2474C>T (p.Ala825Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177294109A>CCA447961781NSD1c.5868A>C (p.Ala1956=)
c.1383A>C (p.Ala461=)
n.6324A>C
n.1157A>C
c.6432A>C (p.Ala2144=)
n.6138A>C
c.6741A>C (p.Ala2247=)
c.5934A>C (p.Ala1978=)
c.2235A>C (p.Ala745=)
c.6321A>C (p.Ala2107=)
c.5685A>C (p.Ala1895=)
c.2475A>C (p.Ala825=)
5g.177294109A>GCA447961782NSD1c.5868A>G (p.Ala1956=)
c.1383A>G (p.Ala461=)
n.6324A>G
n.1157A>G
c.6432A>G (p.Ala2144=)
n.6138A>G
c.6741A>G (p.Ala2247=)
c.5934A>G (p.Ala1978=)
c.2235A>G (p.Ala745=)
c.6321A>G (p.Ala2107=)
c.5685A>G (p.Ala1895=)
c.2475A>G (p.Ala825=)
gnomAD v4
5g.177294109A>TCA447961783NSD1c.5868A>T (p.Ala1956=)
c.1383A>T (p.Ala461=)
n.6324A>T
n.1157A>T
c.6432A>T (p.Ala2144=)
n.6138A>T
c.6741A>T (p.Ala2247=)
c.5934A>T (p.Ala1978=)
c.2235A>T (p.Ala745=)
c.6321A>T (p.Ala2107=)
c.5685A>T (p.Ala1895=)
c.2475A>T (p.Ala825=)
5g.177294110C>ACA362325445NSD1c.5869C>A (p.Pro1957Thr)
c.1384C>A (p.Pro462Thr)
n.6325C>A
n.1158C>A
c.6433C>A (p.Pro2145Thr)
n.6139C>A
c.6742C>A (p.Pro2248Thr)
c.5935C>A (p.Pro1979Thr)
c.2236C>A (p.Pro746Thr)
c.6322C>A (p.Pro2108Thr)
c.5686C>A (p.Pro1896Thr)
c.2476C>A (p.Pro826Thr)
5g.177294110C>GCA362325450NSD1c.5869C>G (p.Pro1957Ala)
c.1384C>G (p.Pro462Ala)
n.6325C>G
n.1158C>G
c.6433C>G (p.Pro2145Ala)
n.6139C>G
c.6742C>G (p.Pro2248Ala)
c.5935C>G (p.Pro1979Ala)
c.2236C>G (p.Pro746Ala)
c.6322C>G (p.Pro2108Ala)
c.5686C>G (p.Pro1896Ala)
c.2476C>G (p.Pro826Ala)
5g.177294110C>TCA362325455NSD1c.5869C>T (p.Pro1957Ser)
c.1384C>T (p.Pro462Ser)
n.6325C>T
n.1158C>T
c.6433C>T (p.Pro2145Ser)
n.6139C>T
c.6742C>T (p.Pro2248Ser)
c.5935C>T (p.Pro1979Ser)
c.2236C>T (p.Pro746Ser)
c.6322C>T (p.Pro2108Ser)
c.5686C>T (p.Pro1896Ser)
c.2476C>T (p.Pro826Ser)
5g.177294111C>ACA362325458NSD1c.5870C>A (p.Pro1957His)
c.1385C>A (p.Pro462His)
n.6326C>A
n.1159C>A
c.6434C>A (p.Pro2145His)
n.6140C>A
c.6743C>A (p.Pro2248His)
c.5936C>A (p.Pro1979His)
c.2237C>A (p.Pro746His)
c.6323C>A (p.Pro2108His)
c.5687C>A (p.Pro1896His)
c.2477C>A (p.Pro826His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177294111C=CA1603535751NSD1c.5870C= (p.Pro1957=)
c.1385C= (p.Pro462=)
n.6326C=
n.1159C=
c.6434C= (p.Pro2145=)
n.6140C=
c.6743C= (p.Pro2248=)
c.5936C= (p.Pro1979=)
c.2237C= (p.Pro746=)
c.6323C= (p.Pro2108=)
c.5687C= (p.Pro1896=)
c.2477C= (p.Pro826=)
5g.177294111C>GCA362325460NSD1c.5870C>G (p.Pro1957Arg)
c.1385C>G (p.Pro462Arg)
n.6326C>G
n.1159C>G
c.6434C>G (p.Pro2145Arg)
n.6140C>G
c.6743C>G (p.Pro2248Arg)
c.5936C>G (p.Pro1979Arg)
c.2237C>G (p.Pro746Arg)
c.6323C>G (p.Pro2108Arg)
c.5687C>G (p.Pro1896Arg)
c.2477C>G (p.Pro826Arg)
5g.177294111C>TCA362325464NSD1c.5870C>T (p.Pro1957Leu)
c.1385C>T (p.Pro462Leu)
n.6326C>T
n.1159C>T
c.6434C>T (p.Pro2145Leu)
n.6140C>T
c.6743C>T (p.Pro2248Leu)
c.5936C>T (p.Pro1979Leu)
c.2237C>T (p.Pro746Leu)
c.6323C>T (p.Pro2108Leu)
c.5687C>T (p.Pro1896Leu)
c.2477C>T (p.Pro826Leu)
5g.177294112C>ACA447961788NSD1c.5871C>A (p.Pro1957=)
c.1386C>A (p.Pro462=)
n.6327C>A
n.1160C>A
c.6435C>A (p.Pro2145=)
n.6141C>A
c.6744C>A (p.Pro2248=)
c.5937C>A (p.Pro1979=)
c.2238C>A (p.Pro746=)
c.6324C>A (p.Pro2108=)
c.5688C>A (p.Pro1896=)
c.2478C>A (p.Pro826=)
5g.177294112C=CA1603535754NSD1c.5871C= (p.Pro1957=)
c.1386C= (p.Pro462=)
n.6327C=
n.1160C=
c.6435C= (p.Pro2145=)
n.6141C=
c.6744C= (p.Pro2248=)
c.5937C= (p.Pro1979=)
c.2238C= (p.Pro746=)
c.6324C= (p.Pro2108=)
c.5688C= (p.Pro1896=)
c.2478C= (p.Pro826=)
5g.177294112C>GCA447961789NSD1c.5871C>G (p.Pro1957=)
c.1386C>G (p.Pro462=)
n.6327C>G
n.1160C>G
c.6435C>G (p.Pro2145=)
n.6141C>G
c.6744C>G (p.Pro2248=)
c.5937C>G (p.Pro1979=)
c.2238C>G (p.Pro746=)
c.6324C>G (p.Pro2108=)
c.5688C>G (p.Pro1896=)
c.2478C>G (p.Pro826=)
5g.177294112C>TCA3578036NSD1c.5871C>T (p.Pro1957=)
c.1386C>T (p.Pro462=)
n.6327C>T
n.1160C>T
c.6435C>T (p.Pro2145=)
n.6141C>T
c.6744C>T (p.Pro2248=)
c.5937C>T (p.Pro1979=)
c.2238C>T (p.Pro746=)
c.6324C>T (p.Pro2108=)
c.5688C>T (p.Pro1896=)
c.2478C>T (p.Pro826=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294113A>CCA362325467NSD1c.5872A>C (p.Lys1958Gln)
c.1387A>C (p.Lys463Gln)
n.6328A>C
n.1161A>C
c.6436A>C (p.Lys2146Gln)
n.6142A>C
c.6745A>C (p.Lys2249Gln)
c.5938A>C (p.Lys1980Gln)
c.2239A>C (p.Lys747Gln)
c.6325A>C (p.Lys2109Gln)
c.5689A>C (p.Lys1897Gln)
c.2479A>C (p.Lys827Gln)
5g.177294113A>GCA362325469NSD1c.5872A>G (p.Lys1958Glu)
c.1387A>G (p.Lys463Glu)
n.6328A>G
n.1161A>G
c.6436A>G (p.Lys2146Glu)
n.6142A>G
c.6745A>G (p.Lys2249Glu)
c.5938A>G (p.Lys1980Glu)
c.2239A>G (p.Lys747Glu)
c.6325A>G (p.Lys2109Glu)
c.5689A>G (p.Lys1897Glu)
c.2479A>G (p.Lys827Glu)
5g.177294113A>TCA362325473NSD1c.5872A>T (p.Lys1958Ter)
c.1387A>T (p.Lys463Ter)
n.6328A>T
n.1161A>T
c.6436A>T (p.Lys2146Ter)
n.6142A>T
c.6745A>T (p.Lys2249Ter)
c.5938A>T (p.Lys1980Ter)
c.2239A>T (p.Lys747Ter)
c.6325A>T (p.Lys2109Ter)
c.5689A>T (p.Lys1897Ter)
c.2479A>T (p.Lys827Ter)
5g.177294116delCA2545917841NSD1c.5875del (p.Met1959CysfsTer?)
c.1390del (p.Met464CysfsTer?)
n.6331del
n.1164del
c.6439del (p.Met2147CysfsTer?)
n.6145del
c.6748del (p.Met2250CysfsTer?)
c.5941del (p.Met1981CysfsTer?)
c.2242del (p.Met748CysfsTer?)
c.6328del (p.Met2110CysfsTer?)
c.5692del (p.Met1898CysfsTer?)
c.2482del (p.Met828CysfsTer?)
5g.177294114A=CA1603535756NSD1c.5873A= (p.Lys1958=)
c.1388A= (p.Lys463=)
n.6329A=
n.1162A=
c.6437A= (p.Lys2146=)
n.6143A=
c.6746A= (p.Lys2249=)
c.5939A= (p.Lys1980=)
c.2240A= (p.Lys747=)
c.6326A= (p.Lys2109=)
c.5690A= (p.Lys1897=)
c.2480A= (p.Lys827=)
5g.177294114A>CCA362325484NSD1c.5873A>C (p.Lys1958Thr)
c.1388A>C (p.Lys463Thr)
n.6329A>C
n.1162A>C
c.6437A>C (p.Lys2146Thr)
n.6143A>C
c.6746A>C (p.Lys2249Thr)
c.5939A>C (p.Lys1980Thr)
c.2240A>C (p.Lys747Thr)
c.6326A>C (p.Lys2109Thr)
c.5690A>C (p.Lys1897Thr)
c.2480A>C (p.Lys827Thr)
5g.177294114A>GCA362325482NSD1c.5873A>G (p.Lys1958Arg)
c.1388A>G (p.Lys463Arg)
n.6329A>G
n.1162A>G
c.6437A>G (p.Lys2146Arg)
n.6143A>G
c.6746A>G (p.Lys2249Arg)
c.5939A>G (p.Lys1980Arg)
c.2240A>G (p.Lys747Arg)
c.6326A>G (p.Lys2109Arg)
c.5690A>G (p.Lys1897Arg)
c.2480A>G (p.Lys827Arg)
dbSNP gnomAD v3 gnomAD v4
5g.177294114A>TCA362325480NSD1c.5873A>T (p.Lys1958Ile)
c.1388A>T (p.Lys463Ile)
n.6329A>T
n.1162A>T
c.6437A>T (p.Lys2146Ile)
n.6143A>T
c.6746A>T (p.Lys2249Ile)
c.5939A>T (p.Lys1980Ile)
c.2240A>T (p.Lys747Ile)
c.6326A>T (p.Lys2109Ile)
c.5690A>T (p.Lys1897Ile)
c.2480A>T (p.Lys827Ile)
5g.177294115A>CCA362325488NSD1c.5874A>C (p.Lys1958Asn)
c.1389A>C (p.Lys463Asn)
n.6330A>C
n.1163A>C
c.6438A>C (p.Lys2146Asn)
n.6144A>C
c.6747A>C (p.Lys2249Asn)
c.5940A>C (p.Lys1980Asn)
c.2241A>C (p.Lys747Asn)
c.6327A>C (p.Lys2109Asn)
c.5691A>C (p.Lys1897Asn)
c.2481A>C (p.Lys827Asn)
5g.177294115A>GCA447961793NSD1c.5874A>G (p.Lys1958=)
c.1389A>G (p.Lys463=)
n.6330A>G
n.1163A>G
c.6438A>G (p.Lys2146=)
n.6144A>G
c.6747A>G (p.Lys2249=)
c.5940A>G (p.Lys1980=)
c.2241A>G (p.Lys747=)
c.6327A>G (p.Lys2109=)
c.5691A>G (p.Lys1897=)
c.2481A>G (p.Lys827=)
5g.177294115A>TCA362325491NSD1c.5874A>T (p.Lys1958Asn)
c.1389A>T (p.Lys463Asn)
n.6330A>T
n.1163A>T
c.6438A>T (p.Lys2146Asn)
n.6144A>T
c.6747A>T (p.Lys2249Asn)
c.5940A>T (p.Lys1980Asn)
c.2241A>T (p.Lys747Asn)
c.6327A>T (p.Lys2109Asn)
c.5691A>T (p.Lys1897Asn)
c.2481A>T (p.Lys827Asn)
5g.177294116A>CCA362325501NSD1c.5875A>C (p.Met1959Leu)
c.1390A>C (p.Met464Leu)
n.6331A>C
n.1164A>C
c.6439A>C (p.Met2147Leu)
n.6145A>C
c.6748A>C (p.Met2250Leu)
c.5941A>C (p.Met1981Leu)
c.2242A>C (p.Met748Leu)
c.6328A>C (p.Met2110Leu)
c.5692A>C (p.Met1898Leu)
c.2482A>C (p.Met828Leu)
5g.177294116A>GCA362325502NSD1c.5875A>G (p.Met1959Val)
c.1390A>G (p.Met464Val)
n.6331A>G
n.1164A>G
c.6439A>G (p.Met2147Val)
n.6145A>G
c.6748A>G (p.Met2250Val)
c.5941A>G (p.Met1981Val)
c.2242A>G (p.Met748Val)
c.6328A>G (p.Met2110Val)
c.5692A>G (p.Met1898Val)
c.2482A>G (p.Met828Val)
5g.177294116A>TCA362325503NSD1c.5875A>T (p.Met1959Leu)
c.1390A>T (p.Met464Leu)
n.6331A>T
n.1164A>T
c.6439A>T (p.Met2147Leu)
n.6145A>T
c.6748A>T (p.Met2250Leu)
c.5941A>T (p.Met1981Leu)
c.2242A>T (p.Met748Leu)
c.6328A>T (p.Met2110Leu)
c.5692A>T (p.Met1898Leu)
c.2482A>T (p.Met828Leu)
5g.177294117T>ACA362325510NSD1c.5876T>A (p.Met1959Lys)
c.1391T>A (p.Met464Lys)
n.6332T>A
n.1165T>A
c.6440T>A (p.Met2147Lys)
n.6146T>A
c.6749T>A (p.Met2250Lys)
c.5942T>A (p.Met1981Lys)
c.2243T>A (p.Met748Lys)
c.6329T>A (p.Met2110Lys)
c.5693T>A (p.Met1898Lys)
c.2483T>A (p.Met828Lys)
5g.177294117T>CCA362325507NSD1c.5876T>C (p.Met1959Thr)
c.1391T>C (p.Met464Thr)
n.6332T>C
n.1165T>C
c.6440T>C (p.Met2147Thr)
n.6146T>C
c.6749T>C (p.Met2250Thr)
c.5942T>C (p.Met1981Thr)
c.2243T>C (p.Met748Thr)
c.6329T>C (p.Met2110Thr)
c.5693T>C (p.Met1898Thr)
c.2483T>C (p.Met828Thr)
5g.177294117T>GCA362325504NSD1c.5876T>G (p.Met1959Arg)
c.1391T>G (p.Met464Arg)
n.6332T>G
n.1165T>G
c.6440T>G (p.Met2147Arg)
n.6146T>G
c.6749T>G (p.Met2250Arg)
c.5942T>G (p.Met1981Arg)
c.2243T>G (p.Met748Arg)
c.6329T>G (p.Met2110Arg)
c.5693T>G (p.Met1898Arg)
c.2483T>G (p.Met828Arg)
5g.177294118G>ACA149206NSD1c.5877G>A (p.Met1959Ile)
c.1392G>A (p.Met464Ile)
n.6333G>A
n.1166G>A
c.6441G>A (p.Met2147Ile)
n.6147G>A
c.6750G>A (p.Met2250Ile)
c.5943G>A (p.Met1981Ile)
c.2244G>A (p.Met748Ile)
c.6330G>A (p.Met2110Ile)
c.5694G>A (p.Met1898Ile)
c.2484G>A (p.Met828Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294118G>CCA362325521NSD1c.5877G>C (p.Met1959Ile)
c.1392G>C (p.Met464Ile)
n.6333G>C
n.1166G>C
c.6441G>C (p.Met2147Ile)
n.6147G>C
c.6750G>C (p.Met2250Ile)
c.5943G>C (p.Met1981Ile)
c.2244G>C (p.Met748Ile)
c.6330G>C (p.Met2110Ile)
c.5694G>C (p.Met1898Ile)
c.2484G>C (p.Met828Ile)
5g.177294118G=CA1603535764NSD1c.5877G= (p.Met1959=)
c.1392G= (p.Met464=)
n.6333G=
n.1166G=
c.6441G= (p.Met2147=)
n.6147G=
c.6750G= (p.Met2250=)
c.5943G= (p.Met1981=)
c.2244G= (p.Met748=)
c.6330G= (p.Met2110=)
c.5694G= (p.Met1898=)
c.2484G= (p.Met828=)
5g.177294118G>TCA362325523NSD1c.5877G>T (p.Met1959Ile)
c.1392G>T (p.Met464Ile)
n.6333G>T
n.1166G>T
c.6441G>T (p.Met2147Ile)
n.6147G>T
c.6750G>T (p.Met2250Ile)
c.5943G>T (p.Met1981Ile)
c.2244G>T (p.Met748Ile)
c.6330G>T (p.Met2110Ile)
c.5694G>T (p.Met1898Ile)
c.2484G>T (p.Met828Ile)
dbSNP gnomAD v4
5g.177294119T>ACA362325530NSD1c.5878T>A (p.Ser1960Thr)
c.1393T>A (p.Ser465Thr)
n.6334T>A
n.1167T>A
c.6442T>A (p.Ser2148Thr)
n.6148T>A
c.6751T>A (p.Ser2251Thr)
c.5944T>A (p.Ser1982Thr)
c.2245T>A (p.Ser749Thr)
c.6331T>A (p.Ser2111Thr)
c.5695T>A (p.Ser1899Thr)
c.2485T>A (p.Ser829Thr)
5g.177294119T>CCA362325534NSD1c.5878T>C (p.Ser1960Pro)
c.1393T>C (p.Ser465Pro)
n.6334T>C
n.1167T>C
c.6442T>C (p.Ser2148Pro)
n.6148T>C
c.6751T>C (p.Ser2251Pro)
c.5944T>C (p.Ser1982Pro)
c.2245T>C (p.Ser749Pro)
c.6331T>C (p.Ser2111Pro)
c.5695T>C (p.Ser1899Pro)
c.2485T>C (p.Ser829Pro)
5g.177294119T>GCA362325538NSD1c.5878T>G (p.Ser1960Ala)
c.1393T>G (p.Ser465Ala)
n.6334T>G
n.1167T>G
c.6442T>G (p.Ser2148Ala)
n.6148T>G
c.6751T>G (p.Ser2251Ala)
c.5944T>G (p.Ser1982Ala)
c.2245T>G (p.Ser749Ala)
c.6331T>G (p.Ser2111Ala)
c.5695T>G (p.Ser1899Ala)
c.2485T>G (p.Ser829Ala)
5g.177294120C>ACA362325546NSD1c.5879C>A (p.Ser1960Ter)
c.1394C>A (p.Ser465Ter)
n.6335C>A
n.1168C>A
c.6443C>A (p.Ser2148Ter)
n.6149C>A
c.6752C>A (p.Ser2251Ter)
c.5945C>A (p.Ser1982Ter)
c.2246C>A (p.Ser749Ter)
c.6332C>A (p.Ser2111Ter)
c.5696C>A (p.Ser1899Ter)
c.2486C>A (p.Ser829Ter)
5g.177294120C>GCA362325558NSD1c.5879C>G (p.Ser1960Ter)
c.1394C>G (p.Ser465Ter)
n.6335C>G
n.1168C>G
c.6443C>G (p.Ser2148Ter)
n.6149C>G
c.6752C>G (p.Ser2251Ter)
c.5945C>G (p.Ser1982Ter)
c.2246C>G (p.Ser749Ter)
c.6332C>G (p.Ser2111Ter)
c.5696C>G (p.Ser1899Ter)
c.2486C>G (p.Ser829Ter)
5g.177294120C>TCA362325549NSD1c.5879C>T (p.Ser1960Leu)
c.1394C>T (p.Ser465Leu)
n.6335C>T
n.1168C>T
c.6443C>T (p.Ser2148Leu)
n.6149C>T
c.6752C>T (p.Ser2251Leu)
c.5945C>T (p.Ser1982Leu)
c.2246C>T (p.Ser749Leu)
c.6332C>T (p.Ser2111Leu)
c.5696C>T (p.Ser1899Leu)
c.2486C>T (p.Ser829Leu)
5g.177294121A=CA1603535777NSD1c.5880A= (p.Ser1960=)
c.1395A= (p.Ser465=)
n.6336A=
n.1169A=
c.6444A= (p.Ser2148=)
n.6150A=
c.6753A= (p.Ser2251=)
c.5946A= (p.Ser1982=)
c.2247A= (p.Ser749=)
c.6333A= (p.Ser2111=)
c.5697A= (p.Ser1899=)
c.2487A= (p.Ser829=)
5g.177294121A>CCA447961801NSD1c.5880A>C (p.Ser1960=)
c.1395A>C (p.Ser465=)
n.6336A>C
n.1169A>C
c.6444A>C (p.Ser2148=)
n.6150A>C
c.6753A>C (p.Ser2251=)
c.5946A>C (p.Ser1982=)
c.2247A>C (p.Ser749=)
c.6333A>C (p.Ser2111=)
c.5697A>C (p.Ser1899=)
c.2487A>C (p.Ser829=)
5g.177294121A>GCA295120NSD1c.5880A>G (p.Ser1960=)
c.1395A>G (p.Ser465=)
n.6336A>G
n.1169A>G
c.6444A>G (p.Ser2148=)
n.6150A>G
c.6753A>G (p.Ser2251=)
c.5946A>G (p.Ser1982=)
c.2247A>G (p.Ser749=)
c.6333A>G (p.Ser2111=)
c.5697A>G (p.Ser1899=)
c.2487A>G (p.Ser829=)
ClinVar dbSNP
5g.177294121A>TCA447961804NSD1c.5880A>T (p.Ser1960=)
c.1395A>T (p.Ser465=)
n.6336A>T
n.1169A>T
c.6444A>T (p.Ser2148=)
n.6150A>T
c.6753A>T (p.Ser2251=)
c.5946A>T (p.Ser1982=)
c.2247A>T (p.Ser749=)
c.6333A>T (p.Ser2111=)
c.5697A>T (p.Ser1899=)
c.2487A>T (p.Ser829=)
5g.177294122G>ACA362325569NSD1c.5881G>A (p.Asp1961Asn)
c.1396G>A (p.Asp466Asn)
n.6337G>A
n.1170G>A
c.6445G>A (p.Asp2149Asn)
n.6151G>A
c.6754G>A (p.Asp2252Asn)
c.5947G>A (p.Asp1983Asn)
c.2248G>A (p.Asp750Asn)
c.6334G>A (p.Asp2112Asn)
c.5698G>A (p.Asp1900Asn)
c.2488G>A (p.Asp830Asn)
5g.177294122G>CCA362325574NSD1c.5881G>C (p.Asp1961His)
c.1396G>C (p.Asp466His)
n.6337G>C
n.1170G>C
c.6445G>C (p.Asp2149His)
n.6151G>C
c.6754G>C (p.Asp2252His)
c.5947G>C (p.Asp1983His)
c.2248G>C (p.Asp750His)
c.6334G>C (p.Asp2112His)
c.5698G>C (p.Asp1900His)
c.2488G>C (p.Asp830His)
5g.177294122G>TCA362325578NSD1c.5881G>T (p.Asp1961Tyr)
c.1396G>T (p.Asp466Tyr)
n.6337G>T
n.1170G>T
c.6445G>T (p.Asp2149Tyr)
n.6151G>T
c.6754G>T (p.Asp2252Tyr)
c.5947G>T (p.Asp1983Tyr)
c.2248G>T (p.Asp750Tyr)
c.6334G>T (p.Asp2112Tyr)
c.5698G>T (p.Asp1900Tyr)
c.2488G>T (p.Asp830Tyr)
5g.177294123A>CCA362325583NSD1c.5882A>C (p.Asp1961Ala)
c.1397A>C (p.Asp466Ala)
n.6338A>C
n.1171A>C
c.6446A>C (p.Asp2149Ala)
n.6152A>C
c.6755A>C (p.Asp2252Ala)
c.5948A>C (p.Asp1983Ala)
c.2249A>C (p.Asp750Ala)
c.6335A>C (p.Asp2112Ala)
c.5699A>C (p.Asp1900Ala)
c.2489A>C (p.Asp830Ala)
5g.177294123A>GCA362325585NSD1c.5882A>G (p.Asp1961Gly)
c.1397A>G (p.Asp466Gly)
n.6338A>G
n.1171A>G
c.6446A>G (p.Asp2149Gly)
n.6152A>G
c.6755A>G (p.Asp2252Gly)
c.5948A>G (p.Asp1983Gly)
c.2249A>G (p.Asp750Gly)
c.6335A>G (p.Asp2112Gly)
c.5699A>G (p.Asp1900Gly)
c.2489A>G (p.Asp830Gly)
5g.177294123A>TCA362325590NSD1c.5882A>T (p.Asp1961Val)
c.1397A>T (p.Asp466Val)
n.6338A>T
n.1171A>T
c.6446A>T (p.Asp2149Val)
n.6152A>T
c.6755A>T (p.Asp2252Val)
c.5948A>T (p.Asp1983Val)
c.2249A>T (p.Asp750Val)
c.6335A>T (p.Asp2112Val)
c.5699A>T (p.Asp1900Val)
c.2489A>T (p.Asp830Val)
5g.177294124T>ACA362325594NSD1c.5883T>A (p.Asp1961Glu)
c.1398T>A (p.Asp466Glu)
n.6339T>A
n.1172T>A
c.6447T>A (p.Asp2149Glu)
n.6153T>A
c.6756T>A (p.Asp2252Glu)
c.5949T>A (p.Asp1983Glu)
c.2250T>A (p.Asp750Glu)
c.6336T>A (p.Asp2112Glu)
c.5700T>A (p.Asp1900Glu)
c.2490T>A (p.Asp830Glu)
5g.177294124T>CCA447961808NSD1c.5883T>C (p.Asp1961=)
c.1398T>C (p.Asp466=)
n.6339T>C
n.1172T>C
c.6447T>C (p.Asp2149=)
n.6153T>C
c.6756T>C (p.Asp2252=)
c.5949T>C (p.Asp1983=)
c.2250T>C (p.Asp750=)
c.6336T>C (p.Asp2112=)
c.5700T>C (p.Asp1900=)
c.2490T>C (p.Asp830=)
5g.177294124T>GCA362325598NSD1c.5883T>G (p.Asp1961Glu)
c.1398T>G (p.Asp466Glu)
n.6339T>G
n.1172T>G
c.6447T>G (p.Asp2149Glu)
n.6153T>G
c.6756T>G (p.Asp2252Glu)
c.5949T>G (p.Asp1983Glu)
c.2250T>G (p.Asp750Glu)
c.6336T>G (p.Asp2112Glu)
c.5700T>G (p.Asp1900Glu)
c.2490T>G (p.Asp830Glu)
5g.177294125A>CCA362325602NSD1c.5884A>C (p.Lys1962Gln)
c.1399A>C (p.Lys467Gln)
n.6340A>C
n.1173A>C
c.6448A>C (p.Lys2150Gln)
n.6154A>C
c.6757A>C (p.Lys2253Gln)
c.5950A>C (p.Lys1984Gln)
c.2251A>C (p.Lys751Gln)
c.6337A>C (p.Lys2113Gln)
c.5701A>C (p.Lys1901Gln)
c.2491A>C (p.Lys831Gln)
gnomAD v4
5g.177294125A>GCA362325605NSD1c.5884A>G (p.Lys1962Glu)
c.1399A>G (p.Lys467Glu)
n.6340A>G
n.1173A>G
c.6448A>G (p.Lys2150Glu)
n.6154A>G
c.6757A>G (p.Lys2253Glu)
c.5950A>G (p.Lys1984Glu)
c.2251A>G (p.Lys751Glu)
c.6337A>G (p.Lys2113Glu)
c.5701A>G (p.Lys1901Glu)
c.2491A>G (p.Lys831Glu)
5g.177294125A>TCA362325611NSD1c.5884A>T (p.Lys1962Ter)
c.1399A>T (p.Lys467Ter)
n.6340A>T
n.1173A>T
c.6448A>T (p.Lys2150Ter)
n.6154A>T
c.6757A>T (p.Lys2253Ter)
c.5950A>T (p.Lys1984Ter)
c.2251A>T (p.Lys751Ter)
c.6337A>T (p.Lys2113Ter)
c.5701A>T (p.Lys1901Ter)
c.2491A>T (p.Lys831Ter)
5g.177294126A>CCA362325628NSD1c.5885A>C (p.Lys1962Thr)
c.1400A>C (p.Lys467Thr)
n.6341A>C
n.1174A>C
c.6449A>C (p.Lys2150Thr)
n.6155A>C
c.6758A>C (p.Lys2253Thr)
c.5951A>C (p.Lys1984Thr)
c.2252A>C (p.Lys751Thr)
c.6338A>C (p.Lys2113Thr)
c.5702A>C (p.Lys1901Thr)
c.2492A>C (p.Lys831Thr)
5g.177294126A>GCA362325620NSD1c.5885A>G (p.Lys1962Arg)
c.1400A>G (p.Lys467Arg)
n.6341A>G
n.1174A>G
c.6449A>G (p.Lys2150Arg)
n.6155A>G
c.6758A>G (p.Lys2253Arg)
c.5951A>G (p.Lys1984Arg)
c.2252A>G (p.Lys751Arg)
c.6338A>G (p.Lys2113Arg)
c.5702A>G (p.Lys1901Arg)
c.2492A>G (p.Lys831Arg)
5g.177294126A>TCA362325617NSD1c.5885A>T (p.Lys1962Ile)
c.1400A>T (p.Lys467Ile)
n.6341A>T
n.1174A>T
c.6449A>T (p.Lys2150Ile)
n.6155A>T
c.6758A>T (p.Lys2253Ile)
c.5951A>T (p.Lys1984Ile)
c.2252A>T (p.Lys751Ile)
c.6338A>T (p.Lys2113Ile)
c.5702A>T (p.Lys1901Ile)
c.2492A>T (p.Lys831Ile)
5g.177294127A=CA1603535783NSD1c.5886A= (p.Lys1962=)
c.1401A= (p.Lys467=)
n.6342A=
n.1175A=
c.6450A= (p.Lys2150=)
n.6156A=
c.6759A= (p.Lys2253=)
c.5952A= (p.Lys1984=)
c.2253A= (p.Lys751=)
c.6339A= (p.Lys2113=)
c.5703A= (p.Lys1901=)
c.2493A= (p.Lys831=)
5g.177294127A>CCA362325634NSD1c.5886A>C (p.Lys1962Asn)
c.1401A>C (p.Lys467Asn)
n.6342A>C
n.1175A>C
c.6450A>C (p.Lys2150Asn)
n.6156A>C
c.6759A>C (p.Lys2253Asn)
c.5952A>C (p.Lys1984Asn)
c.2253A>C (p.Lys751Asn)
c.6339A>C (p.Lys2113Asn)
c.5703A>C (p.Lys1901Asn)
c.2493A>C (p.Lys831Asn)
dbSNP
5g.177294127A>GCA447961813NSD1c.5886A>G (p.Lys1962=)
c.1401A>G (p.Lys467=)
n.6342A>G
n.1175A>G
c.6450A>G (p.Lys2150=)
n.6156A>G
c.6759A>G (p.Lys2253=)
c.5952A>G (p.Lys1984=)
c.2253A>G (p.Lys751=)
c.6339A>G (p.Lys2113=)
c.5703A>G (p.Lys1901=)
c.2493A>G (p.Lys831=)
5g.177294127A>TCA3578037NSD1c.5886A>T (p.Lys1962Asn)
c.1401A>T (p.Lys467Asn)
n.6342A>T
n.1175A>T
c.6450A>T (p.Lys2150Asn)
n.6156A>T
c.6759A>T (p.Lys2253Asn)
c.5952A>T (p.Lys1984Asn)
c.2253A>T (p.Lys751Asn)
c.6339A>T (p.Lys2113Asn)
c.5703A>T (p.Lys1901Asn)
c.2493A>T (p.Lys831Asn)
dbSNP ExAC gnomAD v3 gnomAD v4
5g.177294128C>ACA362325640NSD1c.5887C>A (p.Pro1963Thr)
c.1402C>A (p.Pro468Thr)
n.6343C>A
n.1176C>A
c.6451C>A (p.Pro2151Thr)
n.6157C>A
c.6760C>A (p.Pro2254Thr)
c.5953C>A (p.Pro1985Thr)
c.2254C>A (p.Pro752Thr)
c.6340C>A (p.Pro2114Thr)
c.5704C>A (p.Pro1902Thr)
c.2494C>A (p.Pro832Thr)
5g.177294128C>GCA362325643NSD1c.5887C>G (p.Pro1963Ala)
c.1402C>G (p.Pro468Ala)
n.6343C>G
n.1176C>G
c.6451C>G (p.Pro2151Ala)
n.6157C>G
c.6760C>G (p.Pro2254Ala)
c.5953C>G (p.Pro1985Ala)
c.2254C>G (p.Pro752Ala)
c.6340C>G (p.Pro2114Ala)
c.5704C>G (p.Pro1902Ala)
c.2494C>G (p.Pro832Ala)
5g.177294128C>TCA362325647NSD1c.5887C>T (p.Pro1963Ser)
c.1402C>T (p.Pro468Ser)
n.6343C>T
n.1176C>T
c.6451C>T (p.Pro2151Ser)
n.6157C>T
c.6760C>T (p.Pro2254Ser)
c.5953C>T (p.Pro1985Ser)
c.2254C>T (p.Pro752Ser)
c.6340C>T (p.Pro2114Ser)
c.5704C>T (p.Pro1902Ser)
c.2494C>T (p.Pro832Ser)
5g.177294131_177294133delCA2580614807NSD1c.5890_5892del (p.Pro1964del)
c.1405_1407del (p.Pro469del)
n.6346_6348del
n.1179_1181del
c.6454_6456del (p.Pro2152del)
n.6160_6162del
c.6763_6765del (p.Pro2255del)
c.5956_5958del (p.Pro1986del)
c.2257_2259del (p.Pro753del)
c.6343_6345del (p.Pro2115del)
c.5707_5709del (p.Pro1903del)
c.2497_2499del (p.Pro833del)
ClinVar
5g.177294129C>ACA362325653NSD1c.5888C>A (p.Pro1963His)
c.1403C>A (p.Pro468His)
n.6344C>A
n.1177C>A
c.6452C>A (p.Pro2151His)
n.6158C>A
c.6761C>A (p.Pro2254His)
c.5954C>A (p.Pro1985His)
c.2255C>A (p.Pro752His)
c.6341C>A (p.Pro2114His)
c.5705C>A (p.Pro1902His)
c.2495C>A (p.Pro832His)
gnomAD v4
5g.177294129C=CA1603535787NSD1c.5888C= (p.Pro1963=)
c.1403C= (p.Pro468=)
n.6344C=
n.1177C=
c.6452C= (p.Pro2151=)
n.6158C=
c.6761C= (p.Pro2254=)
c.5954C= (p.Pro1985=)
c.2255C= (p.Pro752=)
c.6341C= (p.Pro2114=)
c.5705C= (p.Pro1902=)
c.2495C= (p.Pro832=)
5g.177294129C>GCA362325656NSD1c.5888C>G (p.Pro1963Arg)
c.1403C>G (p.Pro468Arg)
n.6344C>G
n.1177C>G
c.6452C>G (p.Pro2151Arg)
n.6158C>G
c.6761C>G (p.Pro2254Arg)
c.5954C>G (p.Pro1985Arg)
c.2255C>G (p.Pro752Arg)
c.6341C>G (p.Pro2114Arg)
c.5705C>G (p.Pro1902Arg)
c.2495C>G (p.Pro832Arg)
5g.177294129C>TCA362325658NSD1c.5888C>T (p.Pro1963Leu)
c.1403C>T (p.Pro468Leu)
n.6344C>T
n.1177C>T
c.6452C>T (p.Pro2151Leu)
n.6158C>T
c.6761C>T (p.Pro2254Leu)
c.5954C>T (p.Pro1985Leu)
c.2255C>T (p.Pro752Leu)
c.6341C>T (p.Pro2114Leu)
c.5705C>T (p.Pro1902Leu)
c.2495C>T (p.Pro832Leu)
dbSNP gnomAD v3 gnomAD v4
5g.177294130T>ACA447961816NSD1c.5889T>A (p.Pro1963=)
c.1404T>A (p.Pro468=)
n.6345T>A
n.1178T>A
c.6453T>A (p.Pro2151=)
n.6159T>A
c.6762T>A (p.Pro2254=)
c.5955T>A (p.Pro1985=)
c.2256T>A (p.Pro752=)
c.6342T>A (p.Pro2114=)
c.5706T>A (p.Pro1902=)
c.2496T>A (p.Pro832=)
5g.177294130T>CCA447961817NSD1c.5889T>C (p.Pro1963=)
c.1404T>C (p.Pro468=)
n.6345T>C
n.1178T>C
c.6453T>C (p.Pro2151=)
n.6159T>C
c.6762T>C (p.Pro2254=)
c.5955T>C (p.Pro1985=)
c.2256T>C (p.Pro752=)
c.6342T>C (p.Pro2114=)
c.5706T>C (p.Pro1902=)
c.2496T>C (p.Pro832=)
5g.177294130T>GCA447961818NSD1c.5889T>G (p.Pro1963=)
c.1404T>G (p.Pro468=)
n.6345T>G
n.1178T>G
c.6453T>G (p.Pro2151=)
n.6159T>G
c.6762T>G (p.Pro2254=)
c.5955T>G (p.Pro1985=)
c.2256T>G (p.Pro752=)
c.6342T>G (p.Pro2114=)
c.5706T>G (p.Pro1902=)
c.2496T>G (p.Pro832=)
5g.177294131C>ACA362325662NSD1c.5890C>A (p.Pro1964Thr)
c.1405C>A (p.Pro469Thr)
n.6346C>A
n.1179C>A
c.6454C>A (p.Pro2152Thr)
n.6160C>A
c.6763C>A (p.Pro2255Thr)
c.5956C>A (p.Pro1986Thr)
c.2257C>A (p.Pro753Thr)
c.6343C>A (p.Pro2115Thr)
c.5707C>A (p.Pro1903Thr)
c.2497C>A (p.Pro833Thr)
5g.177294131C>GCA362325669NSD1c.5890C>G (p.Pro1964Ala)
c.1405C>G (p.Pro469Ala)
n.6346C>G
n.1179C>G
c.6454C>G (p.Pro2152Ala)
n.6160C>G
c.6763C>G (p.Pro2255Ala)
c.5956C>G (p.Pro1986Ala)
c.2257C>G (p.Pro753Ala)
c.6343C>G (p.Pro2115Ala)
c.5707C>G (p.Pro1903Ala)
c.2497C>G (p.Pro833Ala)
gnomAD v4
5g.177294131C>TCA362325672NSD1c.5890C>T (p.Pro1964Ser)
c.1405C>T (p.Pro469Ser)
n.6346C>T
n.1179C>T
c.6454C>T (p.Pro2152Ser)
n.6160C>T
c.6763C>T (p.Pro2255Ser)
c.5956C>T (p.Pro1986Ser)
c.2257C>T (p.Pro753Ser)
c.6343C>T (p.Pro2115Ser)
c.5707C>T (p.Pro1903Ser)
c.2497C>T (p.Pro833Ser)
5g.177294132C>ACA362325675NSD1c.5891C>A (p.Pro1964His)
c.1406C>A (p.Pro469His)
n.6347C>A
n.1180C>A
c.6455C>A (p.Pro2152His)
n.6161C>A
c.6764C>A (p.Pro2255His)
c.5957C>A (p.Pro1986His)
c.2258C>A (p.Pro753His)
c.6344C>A (p.Pro2115His)
c.5708C>A (p.Pro1903His)
c.2498C>A (p.Pro833His)
5g.177294132C>GCA362325678NSD1c.5891C>G (p.Pro1964Arg)
c.1406C>G (p.Pro469Arg)
n.6347C>G
n.1180C>G
c.6455C>G (p.Pro2152Arg)
n.6161C>G
c.6764C>G (p.Pro2255Arg)
c.5957C>G (p.Pro1986Arg)
c.2258C>G (p.Pro753Arg)
c.6344C>G (p.Pro2115Arg)
c.5708C>G (p.Pro1903Arg)
c.2498C>G (p.Pro833Arg)
5g.177294132C>TCA362325684NSD1c.5891C>T (p.Pro1964Leu)
c.1406C>T (p.Pro469Leu)
n.6347C>T
n.1180C>T
c.6455C>T (p.Pro2152Leu)
n.6161C>T
c.6764C>T (p.Pro2255Leu)
c.5957C>T (p.Pro1986Leu)
c.2258C>T (p.Pro753Leu)
c.6344C>T (p.Pro2115Leu)
c.5708C>T (p.Pro1903Leu)
c.2498C>T (p.Pro833Leu)
5g.177294133T>ACA447961822NSD1c.5892T>A (p.Pro1964=)
c.1407T>A (p.Pro469=)
n.6348T>A
n.1181T>A
c.6456T>A (p.Pro2152=)
n.6162T>A
c.6765T>A (p.Pro2255=)
c.5958T>A (p.Pro1986=)
c.2259T>A (p.Pro753=)
c.6345T>A (p.Pro2115=)
c.5709T>A (p.Pro1903=)
c.2499T>A (p.Pro833=)
5g.177294133T>CCA3578038NSD1c.5892T>C (p.Pro1964=)
c.1407T>C (p.Pro469=)
n.6348T>C
n.1181T>C
c.6456T>C (p.Pro2152=)
n.6162T>C
c.6765T>C (p.Pro2255=)
c.5958T>C (p.Pro1986=)
c.2259T>C (p.Pro753=)
c.6345T>C (p.Pro2115=)
c.5709T>C (p.Pro1903=)
c.2499T>C (p.Pro833=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177294133T>GCA447961824NSD1c.5892T>G (p.Pro1964=)
c.1407T>G (p.Pro469=)
n.6348T>G
n.1181T>G
c.6456T>G (p.Pro2152=)
n.6162T>G
c.6765T>G (p.Pro2255=)
c.5958T>G (p.Pro1986=)
c.2259T>G (p.Pro753=)
c.6345T>G (p.Pro2115=)
c.5709T>G (p.Pro1903=)
c.2499T>G (p.Pro833=)
5g.177294133T=CA1603535790NSD1c.5892T= (p.Pro1964=)
c.1407T= (p.Pro469=)
n.6348T=
n.1181T=
c.6456T= (p.Pro2152=)
n.6162T=
c.6765T= (p.Pro2255=)
c.5958T= (p.Pro1986=)
c.2259T= (p.Pro753=)
c.6345T= (p.Pro2115=)
c.5709T= (p.Pro1903=)
c.2499T= (p.Pro833=)
5g.177294134G>ACA362325693NSD1c.5893G>A (p.Ala1965Thr)
c.1408G>A (p.Ala470Thr)
n.6349G>A
n.1182G>A
c.6457G>A (p.Ala2153Thr)
n.6163G>A
c.6766G>A (p.Ala2256Thr)
c.5959G>A (p.Ala1987Thr)
c.2260G>A (p.Ala754Thr)
c.6346G>A (p.Ala2116Thr)
c.5710G>A (p.Ala1904Thr)
c.2500G>A (p.Ala834Thr)
5g.177294134G>CCA362325701NSD1c.5893G>C (p.Ala1965Pro)
c.1408G>C (p.Ala470Pro)
n.6349G>C
n.1182G>C
c.6457G>C (p.Ala2153Pro)
n.6163G>C
c.6766G>C (p.Ala2256Pro)
c.5959G>C (p.Ala1987Pro)
c.2260G>C (p.Ala754Pro)
c.6346G>C (p.Ala2116Pro)
c.5710G>C (p.Ala1904Pro)
c.2500G>C (p.Ala834Pro)
5g.177294134G>TCA362325697NSD1c.5893G>T (p.Ala1965Ser)
c.1408G>T (p.Ala470Ser)
n.6349G>T
n.1182G>T
c.6457G>T (p.Ala2153Ser)
n.6163G>T
c.6766G>T (p.Ala2256Ser)
c.5959G>T (p.Ala1987Ser)
c.2260G>T (p.Ala754Ser)
c.6346G>T (p.Ala2116Ser)
c.5710G>T (p.Ala1904Ser)
c.2500G>T (p.Ala834Ser)
5g.177294135C>ACA362325705NSD1c.5894C>A (p.Ala1965Asp)
c.1409C>A (p.Ala470Asp)
n.6350C>A
n.1183C>A
c.6458C>A (p.Ala2153Asp)
n.6164C>A
c.6767C>A (p.Ala2256Asp)
c.5960C>A (p.Ala1987Asp)
c.2261C>A (p.Ala754Asp)
c.6347C>A (p.Ala2116Asp)
c.5711C>A (p.Ala1904Asp)
c.2501C>A (p.Ala834Asp)
dbSNP
5g.177294135C>GCA362325714NSD1c.5894C>G (p.Ala1965Gly)
c.1409C>G (p.Ala470Gly)
n.6350C>G
n.1183C>G
c.6458C>G (p.Ala2153Gly)
n.6164C>G
c.6767C>G (p.Ala2256Gly)
c.5960C>G (p.Ala1987Gly)
c.2261C>G (p.Ala754Gly)
c.6347C>G (p.Ala2116Gly)
c.5711C>G (p.Ala1904Gly)
c.2501C>G (p.Ala834Gly)
ClinVar dbSNP
5g.177294135C>TCA362325717NSD1c.5894C>T (p.Ala1965Val)
c.1409C>T (p.Ala470Val)
n.6350C>T
n.1183C>T
c.6458C>T (p.Ala2153Val)
n.6164C>T
c.6767C>T (p.Ala2256Val)
c.5960C>T (p.Ala1987Val)
c.2261C>T (p.Ala754Val)
c.6347C>T (p.Ala2116Val)
c.5711C>T (p.Ala1904Val)
c.2501C>T (p.Ala834Val)
dbSNP
5g.177294136T>ACA447961826NSD1c.5895T>A (p.Ala1965=)
c.1410T>A (p.Ala470=)
n.6351T>A
n.1184T>A
c.6459T>A (p.Ala2153=)
n.6165T>A
c.6768T>A (p.Ala2256=)
c.5961T>A (p.Ala1987=)
c.2262T>A (p.Ala754=)
c.6348T>A (p.Ala2116=)
c.5712T>A (p.Ala1904=)
c.2502T>A (p.Ala834=)
5g.177294136T>CCA447961827NSD1c.5895T>C (p.Ala1965=)
c.1410T>C (p.Ala470=)
n.6351T>C
n.1184T>C
c.6459T>C (p.Ala2153=)
n.6165T>C
c.6768T>C (p.Ala2256=)
c.5961T>C (p.Ala1987=)
c.2262T>C (p.Ala754=)
c.6348T>C (p.Ala2116=)
c.5712T>C (p.Ala1904=)
c.2502T>C (p.Ala834=)
5g.177294136T>GCA447961829NSD1c.5895T>G (p.Ala1965=)
c.1410T>G (p.Ala470=)
n.6351T>G
n.1184T>G
c.6459T>G (p.Ala2153=)
n.6165T>G
c.6768T>G (p.Ala2256=)
c.5961T>G (p.Ala1987=)
c.2262T>G (p.Ala754=)
c.6348T>G (p.Ala2116=)
c.5712T>G (p.Ala1904=)
c.2502T>G (p.Ala834=)
5g.177294137G>ACA362325723NSD1c.5896G>A (p.Asp1966Asn)
c.1411G>A (p.Asp471Asn)
n.6352G>A
n.1185G>A
c.6460G>A (p.Asp2154Asn)
n.6166G>A
c.6769G>A (p.Asp2257Asn)
c.5962G>A (p.Asp1988Asn)
c.2263G>A (p.Asp755Asn)
c.6349G>A (p.Asp2117Asn)
c.5713G>A (p.Asp1905Asn)
c.2503G>A (p.Asp835Asn)
5g.177294137G>CCA362325724NSD1c.5896G>C (p.Asp1966His)
c.1411G>C (p.Asp471His)
n.6352G>C
n.1185G>C
c.6460G>C (p.Asp2154His)
n.6166G>C
c.6769G>C (p.Asp2257His)
c.5962G>C (p.Asp1988His)
c.2263G>C (p.Asp755His)
c.6349G>C (p.Asp2117His)
c.5713G>C (p.Asp1905His)
c.2503G>C (p.Asp835His)
5g.177294137G>TCA362325728NSD1c.5896G>T (p.Asp1966Tyr)
c.1411G>T (p.Asp471Tyr)
n.6352G>T
n.1185G>T
c.6460G>T (p.Asp2154Tyr)
n.6166G>T
c.6769G>T (p.Asp2257Tyr)
c.5962G>T (p.Asp1988Tyr)
c.2263G>T (p.Asp755Tyr)
c.6349G>T (p.Asp2117Tyr)
c.5713G>T (p.Asp1905Tyr)
c.2503G>T (p.Asp835Tyr)
gnomAD v4
5g.177294138A=CA1603535791NSD1c.5897A= (p.Asp1966=)
c.1412A= (p.Asp471=)
n.6353A=
n.1186A=
c.6461A= (p.Asp2154=)
n.6167A=
c.6770A= (p.Asp2257=)
c.5963A= (p.Asp1988=)
c.2264A= (p.Asp755=)
c.6350A= (p.Asp2117=)
c.5714A= (p.Asp1905=)
c.2504A= (p.Asp835=)
5g.177294138A>CCA362325734NSD1c.5897A>C (p.Asp1966Ala)
c.1412A>C (p.Asp471Ala)
n.6353A>C
n.1186A>C
c.6461A>C (p.Asp2154Ala)
n.6167A>C
c.6770A>C (p.Asp2257Ala)
c.5963A>C (p.Asp1988Ala)
c.2264A>C (p.Asp755Ala)
c.6350A>C (p.Asp2117Ala)
c.5714A>C (p.Asp1905Ala)
c.2504A>C (p.Asp835Ala)
5g.177294138A>GCA362325738NSD1c.5897A>G (p.Asp1966Gly)
c.1412A>G (p.Asp471Gly)
n.6353A>G
n.1186A>G
c.6461A>G (p.Asp2154Gly)
n.6167A>G
c.6770A>G (p.Asp2257Gly)
c.5963A>G (p.Asp1988Gly)
c.2264A>G (p.Asp755Gly)
c.6350A>G (p.Asp2117Gly)
c.5714A>G (p.Asp1905Gly)
c.2504A>G (p.Asp835Gly)
dbSNP gnomAD v2 gnomAD v4
5g.177294138A>TCA362325743NSD1c.5897A>T (p.Asp1966Val)
c.1412A>T (p.Asp471Val)
n.6353A>T
n.1186A>T
c.6461A>T (p.Asp2154Val)
n.6167A>T
c.6770A>T (p.Asp2257Val)
c.5963A>T (p.Asp1988Val)
c.2264A>T (p.Asp755Val)
c.6350A>T (p.Asp2117Val)
c.5714A>T (p.Asp1905Val)
c.2504A>T (p.Asp835Val)
dbSNP
5g.177294139C>ACA362325746NSD1c.5898C>A (p.Asp1966Glu)
c.1413C>A (p.Asp471Glu)
n.6354C>A
n.1187C>A
c.6462C>A (p.Asp2154Glu)
n.6168C>A
c.6771C>A (p.Asp2257Glu)
c.5964C>A (p.Asp1988Glu)
c.2265C>A (p.Asp755Glu)
c.6351C>A (p.Asp2117Glu)
c.5715C>A (p.Asp1905Glu)
c.2505C>A (p.Asp835Glu)
5g.177294139C>GCA362325750NSD1c.5898C>G (p.Asp1966Glu)
c.1413C>G (p.Asp471Glu)
n.6354C>G
n.1187C>G
c.6462C>G (p.Asp2154Glu)
n.6168C>G
c.6771C>G (p.Asp2257Glu)
c.5964C>G (p.Asp1988Glu)
c.2265C>G (p.Asp755Glu)
c.6351C>G (p.Asp2117Glu)
c.5715C>G (p.Asp1905Glu)
c.2505C>G (p.Asp835Glu)
5g.177294139C>TCA447961833NSD1c.5898C>T (p.Asp1966=)
c.1413C>T (p.Asp471=)
n.6354C>T
n.1187C>T
c.6462C>T (p.Asp2154=)
n.6168C>T
c.6771C>T (p.Asp2257=)
c.5964C>T (p.Asp1988=)
c.2265C>T (p.Asp755=)
c.6351C>T (p.Asp2117=)
c.5715C>T (p.Asp1905=)
c.2505C>T (p.Asp835=)
5g.177294140A>CCA362325760NSD1c.5899A>C (p.Thr1967Pro)
c.1414A>C (p.Thr472Pro)
n.6355A>C
n.1188A>C
c.6463A>C (p.Thr2155Pro)
n.6169A>C
c.6772A>C (p.Thr2258Pro)
c.5965A>C (p.Thr1989Pro)
c.2266A>C (p.Thr756Pro)
c.6352A>C (p.Thr2118Pro)
c.5716A>C (p.Thr1906Pro)
c.2506A>C (p.Thr836Pro)
gnomAD v4
5g.177294140A>GCA362325758NSD1c.5899A>G (p.Thr1967Ala)
c.1414A>G (p.Thr472Ala)
n.6355A>G
n.1188A>G
c.6463A>G (p.Thr2155Ala)
n.6169A>G
c.6772A>G (p.Thr2258Ala)
c.5965A>G (p.Thr1989Ala)
c.2266A>G (p.Thr756Ala)
c.6352A>G (p.Thr2118Ala)
c.5716A>G (p.Thr1906Ala)
c.2506A>G (p.Thr836Ala)
5g.177294140A>TCA362325754NSD1c.5899A>T (p.Thr1967Ser)
c.1414A>T (p.Thr472Ser)
n.6355A>T
n.1188A>T
c.6463A>T (p.Thr2155Ser)
n.6169A>T
c.6772A>T (p.Thr2258Ser)
c.5965A>T (p.Thr1989Ser)
c.2266A>T (p.Thr756Ser)
c.6352A>T (p.Thr2118Ser)
c.5716A>T (p.Thr1906Ser)
c.2506A>T (p.Thr836Ser)
5g.177294141C>ACA362325769NSD1c.5900C>A (p.Thr1967Asn)
c.1415C>A (p.Thr472Asn)
n.6356C>A
n.1189C>A
c.6464C>A (p.Thr2155Asn)
n.6170C>A
c.6773C>A (p.Thr2258Asn)
c.5966C>A (p.Thr1989Asn)
c.2267C>A (p.Thr756Asn)
c.6353C>A (p.Thr2118Asn)
c.5717C>A (p.Thr1906Asn)
c.2507C>A (p.Thr836Asn)
5g.177294141C>GCA362325764NSD1c.5900C>G (p.Thr1967Ser)
c.1415C>G (p.Thr472Ser)
n.6356C>G
n.1189C>G
c.6464C>G (p.Thr2155Ser)
n.6170C>G
c.6773C>G (p.Thr2258Ser)
c.5966C>G (p.Thr1989Ser)
c.2267C>G (p.Thr756Ser)
c.6353C>G (p.Thr2118Ser)
c.5717C>G (p.Thr1906Ser)
c.2507C>G (p.Thr836Ser)
5g.177294141C>TCA362325767NSD1c.5900C>T (p.Thr1967Ile)
c.1415C>T (p.Thr472Ile)
n.6356C>T
n.1189C>T
c.6464C>T (p.Thr2155Ile)
n.6170C>T
c.6773C>T (p.Thr2258Ile)
c.5966C>T (p.Thr1989Ile)
c.2267C>T (p.Thr756Ile)
c.6353C>T (p.Thr2118Ile)
c.5717C>T (p.Thr1906Ile)
c.2507C>T (p.Thr836Ile)
5g.177294142C>ACA447961840NSD1c.5901C>A (p.Thr1967=)
c.1416C>A (p.Thr472=)
n.6357C>A
n.1190C>A
c.6465C>A (p.Thr2155=)
n.6171C>A
c.6774C>A (p.Thr2258=)
c.5967C>A (p.Thr1989=)
c.2268C>A (p.Thr756=)
c.6354C>A (p.Thr2118=)
c.5718C>A (p.Thr1906=)
c.2508C>A (p.Thr836=)
gnomAD v4
5g.177294142C>GCA447961837NSD1c.5901C>G (p.Thr1967=)
c.1416C>G (p.Thr472=)
n.6357C>G
n.1190C>G
c.6465C>G (p.Thr2155=)
n.6171C>G
c.6774C>G (p.Thr2258=)
c.5967C>G (p.Thr1989=)
c.2268C>G (p.Thr756=)
c.6354C>G (p.Thr2118=)
c.5718C>G (p.Thr1906=)
c.2508C>G (p.Thr836=)
5g.177294142C>TCA447961838NSD1c.5901C>T (p.Thr1967=)
c.1416C>T (p.Thr472=)
n.6357C>T
n.1190C>T
c.6465C>T (p.Thr2155=)
n.6171C>T
c.6774C>T (p.Thr2258=)
c.5967C>T (p.Thr1989=)
c.2268C>T (p.Thr756=)
c.6354C>T (p.Thr2118=)
c.5718C>T (p.Thr1906=)
c.2508C>T (p.Thr836=)
dbSNP
5g.177294143A>CCA362325774NSD1c.5902A>C (p.Asn1968His)
c.1417A>C (p.Asn473His)
n.6358A>C
n.1191A>C
c.6466A>C (p.Asn2156His)
n.6172A>C
c.6775A>C (p.Asn2259His)
c.5968A>C (p.Asn1990His)
c.2269A>C (p.Asn757His)
c.6355A>C (p.Asn2119His)
c.5719A>C (p.Asn1907His)
c.2509A>C (p.Asn837His)
5g.177294143A>GCA362325779NSD1c.5902A>G (p.Asn1968Asp)
c.1417A>G (p.Asn473Asp)
n.6358A>G
n.1191A>G
c.6466A>G (p.Asn2156Asp)
n.6172A>G
c.6775A>G (p.Asn2259Asp)
c.5968A>G (p.Asn1990Asp)
c.2269A>G (p.Asn757Asp)
c.6355A>G (p.Asn2119Asp)
c.5719A>G (p.Asn1907Asp)
c.2509A>G (p.Asn837Asp)
5g.177294143A>TCA362325784NSD1c.5902A>T (p.Asn1968Tyr)
c.1417A>T (p.Asn473Tyr)
n.6358A>T
n.1191A>T
c.6466A>T (p.Asn2156Tyr)
n.6172A>T
c.6775A>T (p.Asn2259Tyr)
c.5968A>T (p.Asn1990Tyr)
c.2269A>T (p.Asn757Tyr)
c.6355A>T (p.Asn2119Tyr)
c.5719A>T (p.Asn1907Tyr)
c.2509A>T (p.Asn837Tyr)
5g.177294144A=CA1603535793NSD1c.5903A= (p.Asn1968=)
c.1418A= (p.Asn473=)
n.6359A=
n.1192A=
c.6467A= (p.Asn2156=)
n.6173A=
c.6776A= (p.Asn2259=)
c.5969A= (p.Asn1990=)
c.2270A= (p.Asn757=)
c.6356A= (p.Asn2119=)
c.5720A= (p.Asn1907=)
c.2510A= (p.Asn837=)
5g.177294144A>CCA362325787NSD1c.5903A>C (p.Asn1968Thr)
c.1418A>C (p.Asn473Thr)
n.6359A>C
n.1192A>C
c.6467A>C (p.Asn2156Thr)
n.6173A>C
c.6776A>C (p.Asn2259Thr)
c.5969A>C (p.Asn1990Thr)
c.2270A>C (p.Asn757Thr)
c.6356A>C (p.Asn2119Thr)
c.5720A>C (p.Asn1907Thr)
c.2510A>C (p.Asn837Thr)
5g.177294144A>GCA3578039NSD1c.5903A>G (p.Asn1968Ser)
c.1418A>G (p.Asn473Ser)
n.6359A>G
n.1192A>G
c.6467A>G (p.Asn2156Ser)
n.6173A>G
c.6776A>G (p.Asn2259Ser)
c.5969A>G (p.Asn1990Ser)
c.2270A>G (p.Asn757Ser)
c.6356A>G (p.Asn2119Ser)
c.5720A>G (p.Asn1907Ser)
c.2510A>G (p.Asn837Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.177294144A>TCA362325793NSD1c.5903A>T (p.Asn1968Ile)
c.1418A>T (p.Asn473Ile)
n.6359A>T
n.1192A>T
c.6467A>T (p.Asn2156Ile)
n.6173A>T
c.6776A>T (p.Asn2259Ile)
c.5969A>T (p.Asn1990Ile)
c.2270A>T (p.Asn757Ile)
c.6356A>T (p.Asn2119Ile)
c.5720A>T (p.Asn1907Ile)
c.2510A>T (p.Asn837Ile)
5g.177294145C>ACA362325797NSD1c.5904C>A (p.Asn1968Lys)
c.1419C>A (p.Asn473Lys)
n.6360C>A
n.1193C>A
c.6468C>A (p.Asn2156Lys)
n.6174C>A
c.6777C>A (p.Asn2259Lys)
c.5970C>A (p.Asn1990Lys)
c.2271C>A (p.Asn757Lys)
c.6357C>A (p.Asn2119Lys)
c.5721C>A (p.Asn1907Lys)
c.2511C>A (p.Asn837Lys)
5g.177294145C>GCA362325801NSD1c.5904C>G (p.Asn1968Lys)
c.1419C>G (p.Asn473Lys)
n.6360C>G
n.1193C>G
c.6468C>G (p.Asn2156Lys)
n.6174C>G
c.6777C>G (p.Asn2259Lys)
c.5970C>G (p.Asn1990Lys)
c.2271C>G (p.Asn757Lys)
c.6357C>G (p.Asn2119Lys)
c.5721C>G (p.Asn1907Lys)
c.2511C>G (p.Asn837Lys)
5g.177294145C>TCA447961843NSD1c.5904C>T (p.Asn1968=)
c.1419C>T (p.Asn473=)
n.6360C>T
n.1193C>T
c.6468C>T (p.Asn2156=)
n.6174C>T
c.6777C>T (p.Asn2259=)
c.5970C>T (p.Asn1990=)
c.2271C>T (p.Asn757=)
c.6357C>T (p.Asn2119=)
c.5721C>T (p.Asn1907=)
c.2511C>T (p.Asn837=)
dbSNP
5g.177294146C>ACA362325809NSD1c.5905C>A (p.Gln1969Lys)
c.1420C>A (p.Gln474Lys)
n.6361C>A
n.1194C>A
c.6469C>A (p.Gln2157Lys)
n.6175C>A
c.6778C>A (p.Gln2260Lys)
c.5971C>A (p.Gln1991Lys)
c.2272C>A (p.Gln758Lys)
c.6358C>A (p.Gln2120Lys)
c.5722C>A (p.Gln1908Lys)
c.2512C>A (p.Gln838Lys)
5g.177294146C=CA1603535796NSD1c.5905C= (p.Gln1969=)
c.1420C= (p.Gln474=)
n.6361C=
n.1194C=
c.6469C= (p.Gln2157=)
n.6175C=
c.6778C= (p.Gln2260=)
c.5971C= (p.Gln1991=)
c.2272C= (p.Gln758=)
c.6358C= (p.Gln2120=)
c.5722C= (p.Gln1908=)
c.2512C= (p.Gln838=)
5g.177294146C>GCA362325812NSD1c.5905C>G (p.Gln1969Glu)
c.1420C>G (p.Gln474Glu)
n.6361C>G
n.1194C>G
c.6469C>G (p.Gln2157Glu)
n.6175C>G
c.6778C>G (p.Gln2260Glu)
c.5971C>G (p.Gln1991Glu)
c.2272C>G (p.Gln758Glu)
c.6358C>G (p.Gln2120Glu)
c.5722C>G (p.Gln1908Glu)
c.2512C>G (p.Gln838Glu)
5g.177294146C>TCA362325818NSD1c.5905C>T (p.Gln1969Ter)
c.1420C>T (p.Gln474Ter)
n.6361C>T
n.1194C>T
c.6469C>T (p.Gln2157Ter)
n.6175C>T
c.6778C>T (p.Gln2260Ter)
c.5971C>T (p.Gln1991Ter)
c.2272C>T (p.Gln758Ter)
c.6358C>T (p.Gln2120Ter)
c.5722C>T (p.Gln1908Ter)
c.2512C>T (p.Gln838Ter)
dbSNP gnomAD v2
5g.177294147A>CCA362325832NSD1c.5906A>C (p.Gln1969Pro)
c.1421A>C (p.Gln474Pro)
n.6362A>C
n.1195A>C
c.6470A>C (p.Gln2157Pro)
n.6176A>C
c.6779A>C (p.Gln2260Pro)
c.5972A>C (p.Gln1991Pro)
c.2273A>C (p.Gln758Pro)
c.6359A>C (p.Gln2120Pro)
c.5723A>C (p.Gln1908Pro)
c.2513A>C (p.Gln838Pro)
5g.177294147A>GCA362325825NSD1c.5906A>G (p.Gln1969Arg)
c.1421A>G (p.Gln474Arg)
n.6362A>G
n.1195A>G
c.6470A>G (p.Gln2157Arg)
n.6176A>G
c.6779A>G (p.Gln2260Arg)
c.5972A>G (p.Gln1991Arg)
c.2273A>G (p.Gln758Arg)
c.6359A>G (p.Gln2120Arg)
c.5723A>G (p.Gln1908Arg)
c.2513A>G (p.Gln838Arg)
gnomAD v4
5g.177294147A>TCA362325829NSD1c.5906A>T (p.Gln1969Leu)
c.1421A>T (p.Gln474Leu)
n.6362A>T
n.1195A>T
c.6470A>T (p.Gln2157Leu)
n.6176A>T
c.6779A>T (p.Gln2260Leu)
c.5972A>T (p.Gln1991Leu)
c.2273A>T (p.Gln758Leu)
c.6359A>T (p.Gln2120Leu)
c.5723A>T (p.Gln1908Leu)
c.2513A>T (p.Gln838Leu)
5g.177294148G>ACA447961844NSD1c.5907G>A (p.Gln1969=)
c.1422G>A (p.Gln474=)
n.6363G>A
n.1196G>A
c.6471G>A (p.Gln2157=)
n.6177G>A
c.6780G>A (p.Gln2260=)
c.5973G>A (p.Gln1991=)
c.2274G>A (p.Gln758=)
c.6360G>A (p.Gln2120=)
c.5724G>A (p.Gln1908=)
c.2514G>A (p.Gln838=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177294148G>CCA362325837NSD1c.5907G>C (p.Gln1969His)
c.1422G>C (p.Gln474His)
n.6363G>C
n.1196G>C
c.6471G>C (p.Gln2157His)
n.6177G>C
c.6780G>C (p.Gln2260His)
c.5973G>C (p.Gln1991His)
c.2274G>C (p.Gln758His)
c.6360G>C (p.Gln2120His)
c.5724G>C (p.Gln1908His)
c.2514G>C (p.Gln838His)
5g.177294148G=CA1603535798NSD1c.5907G= (p.Gln1969=)
c.1422G= (p.Gln474=)
n.6363G=
n.1196G=
c.6471G= (p.Gln2157=)
n.6177G=
c.6780G= (p.Gln2260=)
c.5973G= (p.Gln1991=)
c.2274G= (p.Gln758=)
c.6360G= (p.Gln2120=)
c.5724G= (p.Gln1908=)
c.2514G= (p.Gln838=)
5g.177294148G>TCA362325844NSD1c.5907G>T (p.Gln1969His)
c.1422G>T (p.Gln474His)
n.6363G>T
n.1196G>T
c.6471G>T (p.Gln2157His)
n.6177G>T
c.6780G>T (p.Gln2260His)
c.5973G>T (p.Gln1991His)
c.2274G>T (p.Gln758His)
c.6360G>T (p.Gln2120His)
c.5724G>T (p.Gln1908His)
c.2514G>T (p.Gln838His)
5g.177294149A>CCA362325846NSD1c.5908A>C (p.Met1970Leu)
c.1423A>C (p.Met475Leu)
n.6364A>C
n.1197A>C
c.6472A>C (p.Met2158Leu)
n.6178A>C
c.6781A>C (p.Met2261Leu)
c.5974A>C (p.Met1992Leu)
c.2275A>C (p.Met759Leu)
c.6361A>C (p.Met2121Leu)
c.5725A>C (p.Met1909Leu)
c.2515A>C (p.Met839Leu)
gnomAD v4
5g.177294149A>GCA362325852NSD1c.5908A>G (p.Met1970Val)
c.1423A>G (p.Met475Val)
n.6364A>G
n.1197A>G
c.6472A>G (p.Met2158Val)
n.6178A>G
c.6781A>G (p.Met2261Val)
c.5974A>G (p.Met1992Val)
c.2275A>G (p.Met759Val)
c.6361A>G (p.Met2121Val)
c.5725A>G (p.Met1909Val)
c.2515A>G (p.Met839Val)
gnomAD v4
5g.177294149A>TCA362325856NSD1c.5908A>T (p.Met1970Leu)
c.1423A>T (p.Met475Leu)
n.6364A>T
n.1197A>T
c.6472A>T (p.Met2158Leu)
n.6178A>T
c.6781A>T (p.Met2261Leu)
c.5974A>T (p.Met1992Leu)
c.2275A>T (p.Met759Leu)
c.6361A>T (p.Met2121Leu)
c.5725A>T (p.Met1909Leu)
c.2515A>T (p.Met839Leu)
5g.177294150T>ACA362325860NSD1c.5909T>A (p.Met1970Lys)
c.1424T>A (p.Met475Lys)
n.6365T>A
n.1198T>A
c.6473T>A (p.Met2158Lys)
n.6179T>A
c.6782T>A (p.Met2261Lys)
c.5975T>A (p.Met1992Lys)
c.2276T>A (p.Met759Lys)
c.6362T>A (p.Met2121Lys)
c.5726T>A (p.Met1909Lys)
c.2516T>A (p.Met839Lys)
5g.177294150T>CCA149209NSD1c.5909T>C (p.Met1970Thr)
c.1424T>C (p.Met475Thr)
n.6365T>C
n.1198T>C
c.6473T>C (p.Met2158Thr)
n.6179T>C
c.6782T>C (p.Met2261Thr)
c.5975T>C (p.Met1992Thr)
c.2276T>C (p.Met759Thr)
c.6362T>C (p.Met2121Thr)
c.5726T>C (p.Met1909Thr)
c.2516T>C (p.Met839Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294150T>GCA362325867NSD1c.5909T>G (p.Met1970Arg)
c.1424T>G (p.Met475Arg)
n.6365T>G
n.1198T>G
c.6473T>G (p.Met2158Arg)
n.6179T>G
c.6782T>G (p.Met2261Arg)
c.5975T>G (p.Met1992Arg)
c.2276T>G (p.Met759Arg)
c.6362T>G (p.Met2121Arg)
c.5726T>G (p.Met1909Arg)
c.2516T>G (p.Met839Arg)
5g.177294150T=CA1603535825NSD1c.5909T= (p.Met1970=)
c.1424T= (p.Met475=)
n.6365T=
n.1198T=
c.6473T= (p.Met2158=)
n.6179T=
c.6782T= (p.Met2261=)
c.5975T= (p.Met1992=)
c.2276T= (p.Met759=)
c.6362T= (p.Met2121=)
c.5726T= (p.Met1909=)
c.2516T= (p.Met839=)
5g.177294151G>ACA362325871NSD1c.5910G>A (p.Met1970Ile)
c.1425G>A (p.Met475Ile)
n.6366G>A
n.1199G>A
c.6474G>A (p.Met2158Ile)
n.6180G>A
c.6783G>A (p.Met2261Ile)
c.5976G>A (p.Met1992Ile)
c.2277G>A (p.Met759Ile)
c.6363G>A (p.Met2121Ile)
c.5727G>A (p.Met1909Ile)
c.2517G>A (p.Met839Ile)
gnomAD v4
5g.177294151G>CCA362325872NSD1c.5910G>C (p.Met1970Ile)
c.1425G>C (p.Met475Ile)
n.6366G>C
n.1199G>C
c.6474G>C (p.Met2158Ile)
n.6180G>C
c.6783G>C (p.Met2261Ile)
c.5976G>C (p.Met1992Ile)
c.2277G>C (p.Met759Ile)
c.6363G>C (p.Met2121Ile)
c.5727G>C (p.Met1909Ile)
c.2517G>C (p.Met839Ile)
5g.177294151G=CA1603535831NSD1c.5910G= (p.Met1970=)
c.1425G= (p.Met475=)
n.6366G=
n.1199G=
c.6474G= (p.Met2158=)
n.6180G=
c.6783G= (p.Met2261=)
c.5976G= (p.Met1992=)
c.2277G= (p.Met759=)
c.6363G= (p.Met2121=)
c.5727G= (p.Met1909=)
c.2517G= (p.Met839=)
5g.177294151G>TCA362325873NSD1c.5910G>T (p.Met1970Ile)
c.1425G>T (p.Met475Ile)
n.6366G>T
n.1199G>T
c.6474G>T (p.Met2158Ile)
n.6180G>T
c.6783G>T (p.Met2261Ile)
c.5976G>T (p.Met1992Ile)
c.2277G>T (p.Met759Ile)
c.6363G>T (p.Met2121Ile)
c.5727G>T (p.Met1909Ile)
c.2517G>T (p.Met839Ile)
dbSNP
5g.177294152C>ACA362325875NSD1c.5911C>A (p.Leu1971Met)
c.1426C>A (p.Leu476Met)
n.6367C>A
n.1200C>A
c.6475C>A (p.Leu2159Met)
n.6181C>A
c.6784C>A (p.Leu2262Met)
c.5977C>A (p.Leu1993Met)
c.2278C>A (p.Leu760Met)
c.6364C>A (p.Leu2122Met)
c.5728C>A (p.Leu1910Met)
c.2518C>A (p.Leu840Met)
5g.177294152C=CA1603535836NSD1c.5911C= (p.Leu1971=)
c.1426C= (p.Leu476=)
n.6367C=
n.1200C=
c.6475C= (p.Leu2159=)
n.6181C=
c.6784C= (p.Leu2262=)
c.5977C= (p.Leu1993=)
c.2278C= (p.Leu760=)
c.6364C= (p.Leu2122=)
c.5728C= (p.Leu1910=)
c.2518C= (p.Leu840=)
5g.177294152C>GCA362325878NSD1c.5911C>G (p.Leu1971Val)
c.1426C>G (p.Leu476Val)
n.6367C>G
n.1200C>G
c.6475C>G (p.Leu2159Val)
n.6181C>G
c.6784C>G (p.Leu2262Val)
c.5977C>G (p.Leu1993Val)
c.2278C>G (p.Leu760Val)
c.6364C>G (p.Leu2122Val)
c.5728C>G (p.Leu1910Val)
c.2518C>G (p.Leu840Val)
5g.177294152C>TCA447961845NSD1c.5911C>T (p.Leu1971=)
c.1426C>T (p.Leu476=)
n.6367C>T
n.1200C>T
c.6475C>T (p.Leu2159=)
n.6181C>T
c.6784C>T (p.Leu2262=)
c.5977C>T (p.Leu1993=)
c.2278C>T (p.Leu760=)
c.6364C>T (p.Leu2122=)
c.5728C>T (p.Leu1910=)
c.2518C>T (p.Leu840=)
dbSNP gnomAD v2 gnomAD v4
5g.177294153T>ACA362325894NSD1c.5912T>A (p.Leu1971Gln)
c.1427T>A (p.Leu476Gln)
n.6368T>A
n.1201T>A
c.6476T>A (p.Leu2159Gln)
n.6182T>A
c.6785T>A (p.Leu2262Gln)
c.5978T>A (p.Leu1993Gln)
c.2279T>A (p.Leu760Gln)
c.6365T>A (p.Leu2122Gln)
c.5729T>A (p.Leu1910Gln)
c.2519T>A (p.Leu840Gln)
5g.177294153T>CCA362325886NSD1c.5912T>C (p.Leu1971Pro)
c.1427T>C (p.Leu476Pro)
n.6368T>C
n.1201T>C
c.6476T>C (p.Leu2159Pro)
n.6182T>C
c.6785T>C (p.Leu2262Pro)
c.5978T>C (p.Leu1993Pro)
c.2279T>C (p.Leu760Pro)
c.6365T>C (p.Leu2122Pro)
c.5729T>C (p.Leu1910Pro)
c.2519T>C (p.Leu840Pro)
dbSNP gnomAD v2 gnomAD v4
5g.177294153T>GCA362325882NSD1c.5912T>G (p.Leu1971Arg)
c.1427T>G (p.Leu476Arg)
n.6368T>G
n.1201T>G
c.6476T>G (p.Leu2159Arg)
n.6182T>G
c.6785T>G (p.Leu2262Arg)
c.5978T>G (p.Leu1993Arg)
c.2279T>G (p.Leu760Arg)
c.6365T>G (p.Leu2122Arg)
c.5729T>G (p.Leu1910Arg)
c.2519T>G (p.Leu840Arg)
5g.177294153T=CA1603535840NSD1c.5912T= (p.Leu1971=)
c.1427T= (p.Leu476=)
n.6368T=
n.1201T=
c.6476T= (p.Leu2159=)
n.6182T=
c.6785T= (p.Leu2262=)
c.5978T= (p.Leu1993=)
c.2279T= (p.Leu760=)
c.6365T= (p.Leu2122=)
c.5729T= (p.Leu1910=)
c.2519T= (p.Leu840=)
5g.177294154G>ACA447961846NSD1c.5913G>A (p.Leu1971=)
c.1428G>A (p.Leu476=)
n.6369G>A
n.1202G>A
c.6477G>A (p.Leu2159=)
n.6183G>A
c.6786G>A (p.Leu2262=)
c.5979G>A (p.Leu1993=)
c.2280G>A (p.Leu760=)
c.6366G>A (p.Leu2122=)
c.5730G>A (p.Leu1910=)
c.2520G>A (p.Leu840=)
dbSNP
5g.177294154G>CCA447961847NSD1c.5913G>C (p.Leu1971=)
c.1428G>C (p.Leu476=)
n.6369G>C
n.1202G>C
c.6477G>C (p.Leu2159=)
n.6183G>C
c.6786G>C (p.Leu2262=)
c.5979G>C (p.Leu1993=)
c.2280G>C (p.Leu760=)
c.6366G>C (p.Leu2122=)
c.5730G>C (p.Leu1910=)
c.2520G>C (p.Leu840=)
5g.177294154G=CA1603535845NSD1c.5913G= (p.Leu1971=)
c.1428G= (p.Leu476=)
n.6369G=
n.1202G=
c.6477G= (p.Leu2159=)
n.6183G=
c.6786G= (p.Leu2262=)
c.5979G= (p.Leu1993=)
c.2280G= (p.Leu760=)
c.6366G= (p.Leu2122=)
c.5730G= (p.Leu1910=)
c.2520G= (p.Leu840=)
5g.177294154G>TCA3578040NSD1c.5913G>T (p.Leu1971=)
c.1428G>T (p.Leu476=)
n.6369G>T
n.1202G>T
c.6477G>T (p.Leu2159=)
n.6183G>T
c.6786G>T (p.Leu2262=)
c.5979G>T (p.Leu1993=)
c.2280G>T (p.Leu760=)
c.6366G>T (p.Leu2122=)
c.5730G>T (p.Leu1910=)
c.2520G>T (p.Leu840=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294155T>ACA3578041NSD1c.5914T>A (p.Ser1972Thr)
c.1429T>A (p.Ser477Thr)
n.6370T>A
n.1203T>A
c.6478T>A (p.Ser2160Thr)
n.6184T>A
c.6787T>A (p.Ser2263Thr)
c.5980T>A (p.Ser1994Thr)
c.2281T>A (p.Ser761Thr)
c.6367T>A (p.Ser2123Thr)
c.5731T>A (p.Ser1911Thr)
c.2521T>A (p.Ser841Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294155T>CCA362325905NSD1c.5914T>C (p.Ser1972Pro)
c.1429T>C (p.Ser477Pro)
n.6370T>C
n.1203T>C
c.6478T>C (p.Ser2160Pro)
n.6184T>C
c.6787T>C (p.Ser2263Pro)
c.5980T>C (p.Ser1994Pro)
c.2281T>C (p.Ser761Pro)
c.6367T>C (p.Ser2123Pro)
c.5731T>C (p.Ser1911Pro)
c.2521T>C (p.Ser841Pro)
5g.177294155T>GCA362325910NSD1c.5914T>G (p.Ser1972Ala)
c.1429T>G (p.Ser477Ala)
n.6370T>G
n.1203T>G
c.6478T>G (p.Ser2160Ala)
n.6184T>G
c.6787T>G (p.Ser2263Ala)
c.5980T>G (p.Ser1994Ala)
c.2281T>G (p.Ser761Ala)
c.6367T>G (p.Ser2123Ala)
c.5731T>G (p.Ser1911Ala)
c.2521T>G (p.Ser841Ala)
5g.177294155T=CA1603535848NSD1c.5914T= (p.Ser1972=)
c.1429T= (p.Ser477=)
n.6370T=
n.1203T=
c.6478T= (p.Ser2160=)
n.6184T=
c.6787T= (p.Ser2263=)
c.5980T= (p.Ser1994=)
c.2281T= (p.Ser761=)
c.6367T= (p.Ser2123=)
c.5731T= (p.Ser1911=)
c.2521T= (p.Ser841=)
5g.177294156C>ACA362325914NSD1c.5915C>A (p.Ser1972Ter)
c.1430C>A (p.Ser477Ter)
n.6371C>A
n.1204C>A
c.6479C>A (p.Ser2160Ter)
n.6185C>A
c.6788C>A (p.Ser2263Ter)
c.5981C>A (p.Ser1994Ter)
c.2282C>A (p.Ser761Ter)
c.6368C>A (p.Ser2123Ter)
c.5732C>A (p.Ser1911Ter)
c.2522C>A (p.Ser841Ter)
dbSNP
5g.177294156C=CA1603535854NSD1c.5915C= (p.Ser1972=)
c.1430C= (p.Ser477=)
n.6371C=
n.1204C=
c.6479C= (p.Ser2160=)
n.6185C=
c.6788C= (p.Ser2263=)
c.5981C= (p.Ser1994=)
c.2282C= (p.Ser761=)
c.6368C= (p.Ser2123=)
c.5732C= (p.Ser1911=)
c.2522C= (p.Ser841=)
5g.177294156C>GCA362325915NSD1c.5915C>G (p.Ser1972Trp)
c.1430C>G (p.Ser477Trp)
n.6371C>G
n.1204C>G
c.6479C>G (p.Ser2160Trp)
n.6185C>G
c.6788C>G (p.Ser2263Trp)
c.5981C>G (p.Ser1994Trp)
c.2282C>G (p.Ser761Trp)
c.6368C>G (p.Ser2123Trp)
c.5732C>G (p.Ser1911Trp)
c.2522C>G (p.Ser841Trp)
5g.177294156C>TCA3578042NSD1c.5915C>T (p.Ser1972Leu)
c.1430C>T (p.Ser477Leu)
n.6371C>T
n.1204C>T
c.6479C>T (p.Ser2160Leu)
n.6185C>T
c.6788C>T (p.Ser2263Leu)
c.5981C>T (p.Ser1994Leu)
c.2282C>T (p.Ser761Leu)
c.6368C>T (p.Ser2123Leu)
c.5732C>T (p.Ser1911Leu)
c.2522C>T (p.Ser841Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294157G>ACA3578043NSD1c.5916G>A (p.Ser1972=)
c.1431G>A (p.Ser477=)
n.6372G>A
n.1205G>A
c.6480G>A (p.Ser2160=)
n.6186G>A
c.6789G>A (p.Ser2263=)
c.5982G>A (p.Ser1994=)
c.2283G>A (p.Ser761=)
c.6369G>A (p.Ser2123=)
c.5733G>A (p.Ser1911=)
c.2523G>A (p.Ser841=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294157G>CCA447961848NSD1c.5916G>C (p.Ser1972=)
c.1431G>C (p.Ser477=)
n.6372G>C
n.1205G>C
c.6480G>C (p.Ser2160=)
n.6186G>C
c.6789G>C (p.Ser2263=)
c.5982G>C (p.Ser1994=)
c.2283G>C (p.Ser761=)
c.6369G>C (p.Ser2123=)
c.5733G>C (p.Ser1911=)
c.2523G>C (p.Ser841=)
5g.177294157G=CA1603535861NSD1c.5916G= (p.Ser1972=)
c.1431G= (p.Ser477=)
n.6372G=
n.1205G=
c.6480G= (p.Ser2160=)
n.6186G=
c.6789G= (p.Ser2263=)
c.5982G= (p.Ser1994=)
c.2283G= (p.Ser761=)
c.6369G= (p.Ser2123=)
c.5733G= (p.Ser1911=)
c.2523G= (p.Ser841=)
5g.177294157G>TCA447961849NSD1c.5916G>T (p.Ser1972=)
c.1431G>T (p.Ser477=)
n.6372G>T
n.1205G>T
c.6480G>T (p.Ser2160=)
n.6186G>T
c.6789G>T (p.Ser2263=)
c.5982G>T (p.Ser1994=)
c.2283G>T (p.Ser761=)
c.6369G>T (p.Ser2123=)
c.5733G>T (p.Ser1911=)
c.2523G>T (p.Ser841=)
5g.177294158C>ACA362325924NSD1c.5917C>A (p.Leu1973Ile)
c.1432C>A (p.Leu478Ile)
n.6373C>A
n.1206C>A
c.6481C>A (p.Leu2161Ile)
n.6187C>A
c.6790C>A (p.Leu2264Ile)
c.5983C>A (p.Leu1995Ile)
c.2284C>A (p.Leu762Ile)
c.6370C>A (p.Leu2124Ile)
c.5734C>A (p.Leu1912Ile)
c.2524C>A (p.Leu842Ile)
5g.177294158C>GCA362325927NSD1c.5917C>G (p.Leu1973Val)
c.1432C>G (p.Leu478Val)
n.6373C>G
n.1206C>G
c.6481C>G (p.Leu2161Val)
n.6187C>G
c.6790C>G (p.Leu2264Val)
c.5983C>G (p.Leu1995Val)
c.2284C>G (p.Leu762Val)
c.6370C>G (p.Leu2124Val)
c.5734C>G (p.Leu1912Val)
c.2524C>G (p.Leu842Val)
5g.177294158C>TCA362325932NSD1c.5917C>T (p.Leu1973Phe)
c.1432C>T (p.Leu478Phe)
n.6373C>T
n.1206C>T
c.6481C>T (p.Leu2161Phe)
n.6187C>T
c.6790C>T (p.Leu2264Phe)
c.5983C>T (p.Leu1995Phe)
c.2284C>T (p.Leu762Phe)
c.6370C>T (p.Leu2124Phe)
c.5734C>T (p.Leu1912Phe)
c.2524C>T (p.Leu842Phe)
5g.177294159T>ACA362325935NSD1c.5918T>A (p.Leu1973His)
c.1433T>A (p.Leu478His)
n.6374T>A
n.1207T>A
c.6482T>A (p.Leu2161His)
n.6188T>A
c.6791T>A (p.Leu2264His)
c.5984T>A (p.Leu1995His)
c.2285T>A (p.Leu762His)
c.6371T>A (p.Leu2124His)
c.5735T>A (p.Leu1912His)
c.2525T>A (p.Leu842His)
5g.177294159T>CCA362325938NSD1c.5918T>C (p.Leu1973Pro)
c.1433T>C (p.Leu478Pro)
n.6374T>C
n.1207T>C
c.6482T>C (p.Leu2161Pro)
n.6188T>C
c.6791T>C (p.Leu2264Pro)
c.5984T>C (p.Leu1995Pro)
c.2285T>C (p.Leu762Pro)
c.6371T>C (p.Leu2124Pro)
c.5735T>C (p.Leu1912Pro)
c.2525T>C (p.Leu842Pro)
5g.177294159T>GCA362325940NSD1c.5918T>G (p.Leu1973Arg)
c.1433T>G (p.Leu478Arg)
n.6374T>G
n.1207T>G
c.6482T>G (p.Leu2161Arg)
n.6188T>G
c.6791T>G (p.Leu2264Arg)
c.5984T>G (p.Leu1995Arg)
c.2285T>G (p.Leu762Arg)
c.6371T>G (p.Leu2124Arg)
c.5735T>G (p.Leu1912Arg)
c.2525T>G (p.Leu842Arg)
5g.177294160C>ACA447961850NSD1c.5919C>A (p.Leu1973=)
c.1434C>A (p.Leu478=)
n.6375C>A
n.1208C>A
c.6483C>A (p.Leu2161=)
n.6189C>A
c.6792C>A (p.Leu2264=)
c.5985C>A (p.Leu1995=)
c.2286C>A (p.Leu762=)
c.6372C>A (p.Leu2124=)
c.5736C>A (p.Leu1912=)
c.2526C>A (p.Leu842=)
5g.177294160C>GCA447961851NSD1c.5919C>G (p.Leu1973=)
c.1434C>G (p.Leu478=)
n.6375C>G
n.1208C>G
c.6483C>G (p.Leu2161=)
n.6189C>G
c.6792C>G (p.Leu2264=)
c.5985C>G (p.Leu1995=)
c.2286C>G (p.Leu762=)
c.6372C>G (p.Leu2124=)
c.5736C>G (p.Leu1912=)
c.2526C>G (p.Leu842=)
5g.177294160C>TCA447961852NSD1c.5919C>T (p.Leu1973=)
c.1434C>T (p.Leu478=)
n.6375C>T
n.1208C>T
c.6483C>T (p.Leu2161=)
n.6189C>T
c.6792C>T (p.Leu2264=)
c.5985C>T (p.Leu1995=)
c.2286C>T (p.Leu762=)
c.6372C>T (p.Leu2124=)
c.5736C>T (p.Leu1912=)
c.2526C>T (p.Leu842=)
gnomAD v4
5g.177294161T>ACA362325955NSD1c.5920T>A (p.Ser1974Thr)
c.1435T>A (p.Ser479Thr)
n.6376T>A
n.1209T>A
c.6484T>A (p.Ser2162Thr)
n.6190T>A
c.6793T>A (p.Ser2265Thr)
c.5986T>A (p.Ser1996Thr)
c.2287T>A (p.Ser763Thr)
c.6373T>A (p.Ser2125Thr)
c.5737T>A (p.Ser1913Thr)
c.2527T>A (p.Ser843Thr)
5g.177294161T>CCA362325944NSD1c.5920T>C (p.Ser1974Pro)
c.1435T>C (p.Ser479Pro)
n.6376T>C
n.1209T>C
c.6484T>C (p.Ser2162Pro)
n.6190T>C
c.6793T>C (p.Ser2265Pro)
c.5986T>C (p.Ser1996Pro)
c.2287T>C (p.Ser763Pro)
c.6373T>C (p.Ser2125Pro)
c.5737T>C (p.Ser1913Pro)
c.2527T>C (p.Ser843Pro)
5g.177294161T>GCA362325948NSD1c.5920T>G (p.Ser1974Ala)
c.1435T>G (p.Ser479Ala)
n.6376T>G
n.1209T>G
c.6484T>G (p.Ser2162Ala)
n.6190T>G
c.6793T>G (p.Ser2265Ala)
c.5986T>G (p.Ser1996Ala)
c.2287T>G (p.Ser763Ala)
c.6373T>G (p.Ser2125Ala)
c.5737T>G (p.Ser1913Ala)
c.2527T>G (p.Ser843Ala)

Number of alleles fetched