Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177293998_177294012delCA295108NSD1c.5757_5771del (p.Asn1920_Pro1924del)
c.1272_1286del (p.Asn425_Pro429del)
n.6213_6227del
n.1046_1060del
c.6321_6335del (p.Asn2108_Pro2112del)
n.6027_6041del
c.6630_6644del (p.Asn2211_Pro2215del)
c.5823_5837del (p.Asn1942_Pro1946del)
c.2124_2138del (p.Asn709_Pro713del)
c.6210_6224del (p.Asn2071_Pro2075del)
c.5574_5588del (p.Asn1859_Pro1863del)
c.2364_2378del (p.Asn789_Pro793del)
 ClinVar dbSNP
5g.177294010_177294012delinsACCCA1603535603NSD1c.5769_5771delinsACC (p.Glu1923=)
c.1284_1286delinsACC (p.Glu428=)
n.6225_6227delinsACC
n.1058_1060delinsACC
c.6333_6335delinsACC (p.Glu2111=)
n.6039_6041delinsACC
c.6642_6644delinsACC (p.Glu2214=)
c.5835_5837delinsACC (p.Glu1945=)
c.2136_2138delinsACC (p.Glu712=)
c.6222_6224delinsACC (p.Glu2074=)
c.5586_5588delinsACC (p.Glu1862=)
c.2376_2378delinsACC (p.Glu792=)
5g.177294011_177294012delinsGATCA658796688NSD1c.5770_5771delinsGAT (p.Pro1924AspfsTer6)
c.1285_1286delinsGAT (p.Pro429AspfsTer6)
n.6226_6227delinsGAT
n.1059_1060delinsGAT
c.6334_6335delinsGAT (p.Pro2112AspfsTer6)
n.6040_6041delinsGAT
c.6643_6644delinsGAT (p.Pro2215AspfsTer6)
c.5836_5837delinsGAT (p.Pro1946AspfsTer6)
c.2137_2138delinsGAT (p.Pro713AspfsTer6)
c.6223_6224delinsGAT (p.Pro2075AspfsTer6)
c.5587_5588delinsGAT (p.Pro1863AspfsTer6)
c.2377_2378delinsGAT (p.Pro793AspfsTer6)
 ClinVar dbSNP
5g.177294012C>ACA362324573NSD1c.5771C>A (p.Pro1924His)
c.1286C>A (p.Pro429His)
n.6227C>A
n.1060C>A
c.6335C>A (p.Pro2112His)
n.6041C>A
c.6644C>A (p.Pro2215His)
c.5837C>A (p.Pro1946His)
c.2138C>A (p.Pro713His)
c.6224C>A (p.Pro2075His)
c.5588C>A (p.Pro1863His)
c.2378C>A (p.Pro793His)
5g.177294012C>GCA362324575NSD1c.5771C>G (p.Pro1924Arg)
c.1286C>G (p.Pro429Arg)
n.6227C>G
n.1060C>G
c.6335C>G (p.Pro2112Arg)
n.6041C>G
c.6644C>G (p.Pro2215Arg)
c.5837C>G (p.Pro1946Arg)
c.2138C>G (p.Pro713Arg)
c.6224C>G (p.Pro2075Arg)
c.5588C>G (p.Pro1863Arg)
c.2378C>G (p.Pro793Arg)
5g.177294012C>TCA362324577NSD1c.5771C>T (p.Pro1924Leu)
c.1286C>T (p.Pro429Leu)
n.6227C>T
n.1060C>T
c.6335C>T (p.Pro2112Leu)
n.6041C>T
c.6644C>T (p.Pro2215Leu)
c.5837C>T (p.Pro1946Leu)
c.2138C>T (p.Pro713Leu)
c.6224C>T (p.Pro2075Leu)
c.5588C>T (p.Pro1863Leu)
c.2378C>T (p.Pro793Leu)
5g.177294013T>ACA447961600NSD1c.5772T>A (p.Pro1924=)
c.1287T>A (p.Pro429=)
n.6228T>A
n.1061T>A
c.6336T>A (p.Pro2112=)
n.6042T>A
c.6645T>A (p.Pro2215=)
c.5838T>A (p.Pro1946=)
c.2139T>A (p.Pro713=)
c.6225T>A (p.Pro2075=)
c.5589T>A (p.Pro1863=)
c.2379T>A (p.Pro793=)
5g.177294013T>CCA447961601NSD1c.5772T>C (p.Pro1924=)
c.1287T>C (p.Pro429=)
n.6228T>C
n.1061T>C
c.6336T>C (p.Pro2112=)
n.6042T>C
c.6645T>C (p.Pro2215=)
c.5838T>C (p.Pro1946=)
c.2139T>C (p.Pro713=)
c.6225T>C (p.Pro2075=)
c.5589T>C (p.Pro1863=)
c.2379T>C (p.Pro793=)
5g.177294013T>GCA447961603NSD1c.5772T>G (p.Pro1924=)
c.1287T>G (p.Pro429=)
n.6228T>G
n.1061T>G
c.6336T>G (p.Pro2112=)
n.6042T>G
c.6645T>G (p.Pro2215=)
c.5838T>G (p.Pro1946=)
c.2139T>G (p.Pro713=)
c.6225T>G (p.Pro2075=)
c.5589T>G (p.Pro1863=)
c.2379T>G (p.Pro793=)
5g.177294014G>ACA362324583NSD1c.5773G>A (p.Gly1925Arg)
c.1288G>A (p.Gly430Arg)
n.6229G>A
n.1062G>A
c.6337G>A (p.Gly2113Arg)
n.6043G>A
c.6646G>A (p.Gly2216Arg)
c.5839G>A (p.Gly1947Arg)
c.2140G>A (p.Gly714Arg)
c.6226G>A (p.Gly2076Arg)
c.5590G>A (p.Gly1864Arg)
c.2380G>A (p.Gly794Arg)
5g.177294014G>CCA362324589NSD1c.5773G>C (p.Gly1925Arg)
c.1288G>C (p.Gly430Arg)
n.6229G>C
n.1062G>C
c.6337G>C (p.Gly2113Arg)
n.6043G>C
c.6646G>C (p.Gly2216Arg)
c.5839G>C (p.Gly1947Arg)
c.2140G>C (p.Gly714Arg)
c.6226G>C (p.Gly2076Arg)
c.5590G>C (p.Gly1864Arg)
c.2380G>C (p.Gly794Arg)
5g.177294014G>TCA362324585NSD1c.5773G>T (p.Gly1925Trp)
c.1288G>T (p.Gly430Trp)
n.6229G>T
n.1062G>T
c.6337G>T (p.Gly2113Trp)
n.6043G>T
c.6646G>T (p.Gly2216Trp)
c.5839G>T (p.Gly1947Trp)
c.2140G>T (p.Gly714Trp)
c.6226G>T (p.Gly2076Trp)
c.5590G>T (p.Gly1864Trp)
c.2380G>T (p.Gly794Trp)
5g.177294015G>ACA362324593NSD1c.5774G>A (p.Gly1925Glu)
c.1289G>A (p.Gly430Glu)
n.6230G>A
n.1063G>A
c.6338G>A (p.Gly2113Glu)
n.6044G>A
c.6647G>A (p.Gly2216Glu)
c.5840G>A (p.Gly1947Glu)
c.2141G>A (p.Gly714Glu)
c.6227G>A (p.Gly2076Glu)
c.5591G>A (p.Gly1864Glu)
c.2381G>A (p.Gly794Glu)
 ClinVar dbSNP
5g.177294015G>CCA362324608NSD1c.5774G>C (p.Gly1925Ala)
c.1289G>C (p.Gly430Ala)
n.6230G>C
n.1063G>C
c.6338G>C (p.Gly2113Ala)
n.6044G>C
c.6647G>C (p.Gly2216Ala)
c.5840G>C (p.Gly1947Ala)
c.2141G>C (p.Gly714Ala)
c.6227G>C (p.Gly2076Ala)
c.5591G>C (p.Gly1864Ala)
c.2381G>C (p.Gly794Ala)
5g.177294015G=CA1603535611NSD1c.5774G= (p.Gly1925=)
c.1289G= (p.Gly430=)
n.6230G=
n.1063G=
c.6338G= (p.Gly2113=)
n.6044G=
c.6647G= (p.Gly2216=)
c.5840G= (p.Gly1947=)
c.2141G= (p.Gly714=)
c.6227G= (p.Gly2076=)
c.5591G= (p.Gly1864=)
c.2381G= (p.Gly794=)
5g.177294015G>TCA362324606NSD1c.5774G>T (p.Gly1925Val)
c.1289G>T (p.Gly430Val)
n.6230G>T
n.1063G>T
c.6338G>T (p.Gly2113Val)
n.6044G>T
c.6647G>T (p.Gly2216Val)
c.5840G>T (p.Gly1947Val)
c.2141G>T (p.Gly714Val)
c.6227G>T (p.Gly2076Val)
c.5591G>T (p.Gly1864Val)
c.2381G>T (p.Gly794Val)
5g.177294016G>ACA447961604NSD1c.5775G>A (p.Gly1925=)
c.1290G>A (p.Gly430=)
n.6231G>A
n.1064G>A
c.6339G>A (p.Gly2113=)
n.6045G>A
c.6648G>A (p.Gly2216=)
c.5841G>A (p.Gly1947=)
c.2142G>A (p.Gly714=)
c.6228G>A (p.Gly2076=)
c.5592G>A (p.Gly1864=)
c.2382G>A (p.Gly794=)
5g.177294016G>CCA447961606NSD1c.5775G>C (p.Gly1925=)
c.1290G>C (p.Gly430=)
n.6231G>C
n.1064G>C
c.6339G>C (p.Gly2113=)
n.6045G>C
c.6648G>C (p.Gly2216=)
c.5841G>C (p.Gly1947=)
c.2142G>C (p.Gly714=)
c.6228G>C (p.Gly2076=)
c.5592G>C (p.Gly1864=)
c.2382G>C (p.Gly794=)
5g.177294016G=CA1603535617NSD1c.5775G= (p.Gly1925=)
c.1290G= (p.Gly430=)
n.6231G=
n.1064G=
c.6339G= (p.Gly2113=)
n.6045G=
c.6648G= (p.Gly2216=)
c.5841G= (p.Gly1947=)
c.2142G= (p.Gly714=)
c.6228G= (p.Gly2076=)
c.5592G= (p.Gly1864=)
c.2382G= (p.Gly794=)
5g.177294016G>TCA3578023NSD1c.5775G>T (p.Gly1925=)
c.1290G>T (p.Gly430=)
n.6231G>T
n.1064G>T
c.6339G>T (p.Gly2113=)
n.6045G>T
c.6648G>T (p.Gly2216=)
c.5841G>T (p.Gly1947=)
c.2142G>T (p.Gly714=)
c.6228G>T (p.Gly2076=)
c.5592G>T (p.Gly1864=)
c.2382G>T (p.Gly794=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177294017G>ACA362324623NSD1c.5776G>A (p.Glu1926Lys)
c.1291G>A (p.Glu431Lys)
n.6232G>A
n.1065G>A
c.6340G>A (p.Glu2114Lys)
n.6046G>A
c.6649G>A (p.Glu2217Lys)
c.5842G>A (p.Glu1948Lys)
c.2143G>A (p.Glu715Lys)
c.6229G>A (p.Glu2077Lys)
c.5593G>A (p.Glu1865Lys)
c.2383G>A (p.Glu795Lys)
 COSMIC COSMIC
5g.177294017G>CCA362324616NSD1c.5776G>C (p.Glu1926Gln)
c.1291G>C (p.Glu431Gln)
n.6232G>C
n.1065G>C
c.6340G>C (p.Glu2114Gln)
n.6046G>C
c.6649G>C (p.Glu2217Gln)
c.5842G>C (p.Glu1948Gln)
c.2143G>C (p.Glu715Gln)
c.6229G>C (p.Glu2077Gln)
c.5593G>C (p.Glu1865Gln)
c.2383G>C (p.Glu795Gln)
5g.177294017G>TCA362324621NSD1c.5776G>T (p.Glu1926Ter)
c.1291G>T (p.Glu431Ter)
n.6232G>T
n.1065G>T
c.6340G>T (p.Glu2114Ter)
n.6046G>T
c.6649G>T (p.Glu2217Ter)
c.5842G>T (p.Glu1948Ter)
c.2143G>T (p.Glu715Ter)
c.6229G>T (p.Glu2077Ter)
c.5593G>T (p.Glu1865Ter)
c.2383G>T (p.Glu795Ter)
5g.177294018A>CCA362324628NSD1c.5777A>C (p.Glu1926Ala)
c.1292A>C (p.Glu431Ala)
n.6233A>C
n.1066A>C
c.6341A>C (p.Glu2114Ala)
n.6047A>C
c.6650A>C (p.Glu2217Ala)
c.5843A>C (p.Glu1948Ala)
c.2144A>C (p.Glu715Ala)
c.6230A>C (p.Glu2077Ala)
c.5594A>C (p.Glu1865Ala)
c.2384A>C (p.Glu795Ala)
5g.177294018A>GCA362324630NSD1c.5777A>G (p.Glu1926Gly)
c.1292A>G (p.Glu431Gly)
n.6233A>G
n.1066A>G
c.6341A>G (p.Glu2114Gly)
n.6047A>G
c.6650A>G (p.Glu2217Gly)
c.5843A>G (p.Glu1948Gly)
c.2144A>G (p.Glu715Gly)
c.6230A>G (p.Glu2077Gly)
c.5594A>G (p.Glu1865Gly)
c.2384A>G (p.Glu795Gly)
 dbSNP
5g.177294018A>TCA362324634NSD1c.5777A>T (p.Glu1926Val)
c.1292A>T (p.Glu431Val)
n.6233A>T
n.1066A>T
c.6341A>T (p.Glu2114Val)
n.6047A>T
c.6650A>T (p.Glu2217Val)
c.5843A>T (p.Glu1948Val)
c.2144A>T (p.Glu715Val)
c.6230A>T (p.Glu2077Val)
c.5594A>T (p.Glu1865Val)
c.2384A>T (p.Glu795Val)
5g.177294019G>ACA447961609NSD1c.5778G>A (p.Glu1926=)
c.1293G>A (p.Glu431=)
n.6234G>A
n.1067G>A
c.6342G>A (p.Glu2114=)
n.6048G>A
c.6651G>A (p.Glu2217=)
c.5844G>A (p.Glu1948=)
c.2145G>A (p.Glu715=)
c.6231G>A (p.Glu2077=)
c.5595G>A (p.Glu1865=)
c.2385G>A (p.Glu795=)
 dbSNP
5g.177294019G>CCA362324636NSD1c.5778G>C (p.Glu1926Asp)
c.1293G>C (p.Glu431Asp)
n.6234G>C
n.1067G>C
c.6342G>C (p.Glu2114Asp)
n.6048G>C
c.6651G>C (p.Glu2217Asp)
c.5844G>C (p.Glu1948Asp)
c.2145G>C (p.Glu715Asp)
c.6231G>C (p.Glu2077Asp)
c.5595G>C (p.Glu1865Asp)
c.2385G>C (p.Glu795Asp)
5g.177294019G=CA1603535622NSD1c.5778G= (p.Glu1926=)
c.1293G= (p.Glu431=)
n.6234G=
n.1067G=
c.6342G= (p.Glu2114=)
n.6048G=
c.6651G= (p.Glu2217=)
c.5844G= (p.Glu1948=)
c.2145G= (p.Glu715=)
c.6231G= (p.Glu2077=)
c.5595G= (p.Glu1865=)
c.2385G= (p.Glu795=)
5g.177294019G>TCA362324638NSD1c.5778G>T (p.Glu1926Asp)
c.1293G>T (p.Glu431Asp)
n.6234G>T
n.1067G>T
c.6342G>T (p.Glu2114Asp)
n.6048G>T
c.6651G>T (p.Glu2217Asp)
c.5844G>T (p.Glu1948Asp)
c.2145G>T (p.Glu715Asp)
c.6231G>T (p.Glu2077Asp)
c.5595G>T (p.Glu1865Asp)
c.2385G>T (p.Glu795Asp)
 ClinVar dbSNP COSMIC COSMIC
5g.177294020A>CCA362324655NSD1c.5779A>C (p.Ile1927Leu)
c.1294A>C (p.Ile432Leu)
n.6235A>C
n.1068A>C
c.6343A>C (p.Ile2115Leu)
n.6049A>C
c.6652A>C (p.Ile2218Leu)
c.5845A>C (p.Ile1949Leu)
c.2146A>C (p.Ile716Leu)
c.6232A>C (p.Ile2078Leu)
c.5596A>C (p.Ile1866Leu)
c.2386A>C (p.Ile796Leu)
5g.177294020A>GCA362324657NSD1c.5779A>G (p.Ile1927Val)
c.1294A>G (p.Ile432Val)
n.6235A>G
n.1068A>G
c.6343A>G (p.Ile2115Val)
n.6049A>G
c.6652A>G (p.Ile2218Val)
c.5845A>G (p.Ile1949Val)
c.2146A>G (p.Ile716Val)
c.6232A>G (p.Ile2078Val)
c.5596A>G (p.Ile1866Val)
c.2386A>G (p.Ile796Val)
5g.177294020A>TCA362324665NSD1c.5779A>T (p.Ile1927Phe)
c.1294A>T (p.Ile432Phe)
n.6235A>T
n.1068A>T
c.6343A>T (p.Ile2115Phe)
n.6049A>T
c.6652A>T (p.Ile2218Phe)
c.5845A>T (p.Ile1949Phe)
c.2146A>T (p.Ile716Phe)
c.6232A>T (p.Ile2078Phe)
c.5596A>T (p.Ile1866Phe)
c.2386A>T (p.Ile796Phe)
5g.177294021T>ACA362324668NSD1c.5780T>A (p.Ile1927Asn)
c.1295T>A (p.Ile432Asn)
n.6236T>A
n.1069T>A
c.6344T>A (p.Ile2115Asn)
n.6050T>A
c.6653T>A (p.Ile2218Asn)
c.5846T>A (p.Ile1949Asn)
c.2147T>A (p.Ile716Asn)
c.6233T>A (p.Ile2078Asn)
c.5597T>A (p.Ile1866Asn)
c.2387T>A (p.Ile796Asn)
5g.177294021T>CCA362324671NSD1c.5780T>C (p.Ile1927Thr)
c.1295T>C (p.Ile432Thr)
n.6236T>C
n.1069T>C
c.6344T>C (p.Ile2115Thr)
n.6050T>C
c.6653T>C (p.Ile2218Thr)
c.5846T>C (p.Ile1949Thr)
c.2147T>C (p.Ile716Thr)
c.6233T>C (p.Ile2078Thr)
c.5597T>C (p.Ile1866Thr)
c.2387T>C (p.Ile796Thr)
 COSMIC COSMIC
5g.177294021T>GCA362324675NSD1c.5780T>G (p.Ile1927Ser)
c.1295T>G (p.Ile432Ser)
n.6236T>G
n.1069T>G
c.6344T>G (p.Ile2115Ser)
n.6050T>G
c.6653T>G (p.Ile2218Ser)
c.5846T>G (p.Ile1949Ser)
c.2147T>G (p.Ile716Ser)
c.6233T>G (p.Ile2078Ser)
c.5597T>G (p.Ile1866Ser)
c.2387T>G (p.Ile796Ser)
5g.177294022C>ACA447961616NSD1c.5781C>A (p.Ile1927=)
c.1296C>A (p.Ile432=)
n.6237C>A
n.1070C>A
c.6345C>A (p.Ile2115=)
n.6051C>A
c.6654C>A (p.Ile2218=)
c.5847C>A (p.Ile1949=)
c.2148C>A (p.Ile716=)
c.6234C>A (p.Ile2078=)
c.5598C>A (p.Ile1866=)
c.2388C>A (p.Ile796=)
 dbSNP
5g.177294022C>GCA362324676NSD1c.5781C>G (p.Ile1927Met)
c.1296C>G (p.Ile432Met)
n.6237C>G
n.1070C>G
c.6345C>G (p.Ile2115Met)
n.6051C>G
c.6654C>G (p.Ile2218Met)
c.5847C>G (p.Ile1949Met)
c.2148C>G (p.Ile716Met)
c.6234C>G (p.Ile2078Met)
c.5598C>G (p.Ile1866Met)
c.2388C>G (p.Ile796Met)
 ClinVar dbSNP
5g.177294022C>TCA447961617NSD1c.5781C>T (p.Ile1927=)
c.1296C>T (p.Ile432=)
n.6237C>T
n.1070C>T
c.6345C>T (p.Ile2115=)
n.6051C>T
c.6654C>T (p.Ile2218=)
c.5847C>T (p.Ile1949=)
c.2148C>T (p.Ile716=)
c.6234C>T (p.Ile2078=)
c.5598C>T (p.Ile1866=)
c.2388C>T (p.Ile796=)
 dbSNP COSMIC COSMIC
5g.177294023delCA2499217790NSD1c.5782del (p.Arg1928ValfsTer?)
c.1297del (p.Arg433ValfsTer?)
n.6238del
n.1071del
c.6346del (p.Arg2116ValfsTer?)
n.6052del
c.6655del (p.Arg2219ValfsTer?)
c.5848del (p.Arg1950ValfsTer?)
c.2149del (p.Arg717ValfsTer?)
c.6235del (p.Arg2079ValfsTer?)
c.5599del (p.Arg1867ValfsTer?)
c.2389del (p.Arg797ValfsTer?)
 ClinVar dbSNP
5g.177294023C>ACA362324678NSD1c.5782C>A (p.Arg1928Ser)
c.1297C>A (p.Arg433Ser)
n.6238C>A
n.1071C>A
c.6346C>A (p.Arg2116Ser)
n.6052C>A
c.6655C>A (p.Arg2219Ser)
c.5848C>A (p.Arg1950Ser)
c.2149C>A (p.Arg717Ser)
c.6235C>A (p.Arg2079Ser)
c.5599C>A (p.Arg1867Ser)
c.2389C>A (p.Arg797Ser)
5g.177294023C>GCA362324681NSD1c.5782C>G (p.Arg1928Gly)
c.1297C>G (p.Arg433Gly)
n.6238C>G
n.1071C>G
c.6346C>G (p.Arg2116Gly)
n.6052C>G
c.6655C>G (p.Arg2219Gly)
c.5848C>G (p.Arg1950Gly)
c.2149C>G (p.Arg717Gly)
c.6235C>G (p.Arg2079Gly)
c.5599C>G (p.Arg1867Gly)
c.2389C>G (p.Arg797Gly)
5g.177294023C>TCA362324682NSD1c.5782C>T (p.Arg1928Cys)
c.1297C>T (p.Arg433Cys)
n.6238C>T
n.1071C>T
c.6346C>T (p.Arg2116Cys)
n.6052C>T
c.6655C>T (p.Arg2219Cys)
c.5848C>T (p.Arg1950Cys)
c.2149C>T (p.Arg717Cys)
c.6235C>T (p.Arg2079Cys)
c.5599C>T (p.Arg1867Cys)
c.2389C>T (p.Arg797Cys)
 ClinVar dbSNP
5g.177294024G>ACA295117NSD1c.5783G>A (p.Arg1928His)
c.1298G>A (p.Arg433His)
n.6239G>A
n.1072G>A
c.6347G>A (p.Arg2116His)
n.6053G>A
c.6656G>A (p.Arg2219His)
c.5849G>A (p.Arg1950His)
c.2150G>A (p.Arg717His)
c.6236G>A (p.Arg2079His)
c.5600G>A (p.Arg1867His)
c.2390G>A (p.Arg797His)
 ClinVar dbSNP COSMIC COSMIC
5g.177294024G>CCA362324689NSD1c.5783G>C (p.Arg1928Pro)
c.1298G>C (p.Arg433Pro)
n.6239G>C
n.1072G>C
c.6347G>C (p.Arg2116Pro)
n.6053G>C
c.6656G>C (p.Arg2219Pro)
c.5849G>C (p.Arg1950Pro)
c.2150G>C (p.Arg717Pro)
c.6236G>C (p.Arg2079Pro)
c.5600G>C (p.Arg1867Pro)
c.2390G>C (p.Arg797Pro)
5g.177294024G=CA1603535633NSD1c.5783G= (p.Arg1928=)
c.1298G= (p.Arg433=)
n.6239G=
n.1072G=
c.6347G= (p.Arg2116=)
n.6053G=
c.6656G= (p.Arg2219=)
c.5849G= (p.Arg1950=)
c.2150G= (p.Arg717=)
c.6236G= (p.Arg2079=)
c.5600G= (p.Arg1867=)
c.2390G= (p.Arg797=)
5g.177294024G>TCA362324691NSD1c.5783G>T (p.Arg1928Leu)
c.1298G>T (p.Arg433Leu)
n.6239G>T
n.1072G>T
c.6347G>T (p.Arg2116Leu)
n.6053G>T
c.6656G>T (p.Arg2219Leu)
c.5849G>T (p.Arg1950Leu)
c.2150G>T (p.Arg717Leu)
c.6236G>T (p.Arg2079Leu)
c.5600G>T (p.Arg1867Leu)
c.2390G>T (p.Arg797Leu)
5g.177294025_177294026delCA2676692107NSD1c.5784_5785del (p.Glu1929ValfsTer?)
c.1299_1300del (p.Glu434ValfsTer?)
n.6240_6241del
n.1073_1074del
c.6348_6349del (p.Glu2117ValfsTer?)
n.6054_6055del
c.6657_6658del (p.Glu2220ValfsTer?)
c.5850_5851del (p.Glu1951ValfsTer?)
c.2151_2152del (p.Glu718ValfsTer?)
c.6237_6238del (p.Glu2080ValfsTer?)
c.5601_5602del (p.Glu1868ValfsTer?)
c.2391_2392del (p.Glu798ValfsTer?)
 gnomAD v4
5g.177294025T>ACA447961622NSD1c.5784T>A (p.Arg1928=)
c.1299T>A (p.Arg433=)
n.6240T>A
n.1073T>A
c.6348T>A (p.Arg2116=)
n.6054T>A
c.6657T>A (p.Arg2219=)
c.5850T>A (p.Arg1950=)
c.2151T>A (p.Arg717=)
c.6237T>A (p.Arg2079=)
c.5601T>A (p.Arg1867=)
c.2391T>A (p.Arg797=)
5g.177294025T>CCA447961623NSD1c.5784T>C (p.Arg1928=)
c.1299T>C (p.Arg433=)
n.6240T>C
n.1073T>C
c.6348T>C (p.Arg2116=)
n.6054T>C
c.6657T>C (p.Arg2219=)
c.5850T>C (p.Arg1950=)
c.2151T>C (p.Arg717=)
c.6237T>C (p.Arg2079=)
c.5601T>C (p.Arg1867=)
c.2391T>C (p.Arg797=)
5g.177294025T>GCA447961621NSD1c.5784T>G (p.Arg1928=)
c.1299T>G (p.Arg433=)
n.6240T>G
n.1073T>G
c.6348T>G (p.Arg2116=)
n.6054T>G
c.6657T>G (p.Arg2219=)
c.5850T>G (p.Arg1950=)
c.2151T>G (p.Arg717=)
c.6237T>G (p.Arg2079=)
c.5601T>G (p.Arg1867=)
c.2391T>G (p.Arg797=)
5g.177294026G>ACA362324694NSD1c.5785G>A (p.Glu1929Lys)
c.1300G>A (p.Glu434Lys)
n.6241G>A
n.1074G>A
c.6349G>A (p.Glu2117Lys)
n.6055G>A
c.6658G>A (p.Glu2220Lys)
c.5851G>A (p.Glu1951Lys)
c.2152G>A (p.Glu718Lys)
c.6238G>A (p.Glu2080Lys)
c.5602G>A (p.Glu1868Lys)
c.2392G>A (p.Glu798Lys)
5g.177294026G>CCA362324710NSD1c.5785G>C (p.Glu1929Gln)
c.1300G>C (p.Glu434Gln)
n.6241G>C
n.1074G>C
c.6349G>C (p.Glu2117Gln)
n.6055G>C
c.6658G>C (p.Glu2220Gln)
c.5851G>C (p.Glu1951Gln)
c.2152G>C (p.Glu718Gln)
c.6238G>C (p.Glu2080Gln)
c.5602G>C (p.Glu1868Gln)
c.2392G>C (p.Glu798Gln)
 dbSNP
5g.177294026G>TCA362324714NSD1c.5785G>T (p.Glu1929Ter)
c.1300G>T (p.Glu434Ter)
n.6241G>T
n.1074G>T
c.6349G>T (p.Glu2117Ter)
n.6055G>T
c.6658G>T (p.Glu2220Ter)
c.5851G>T (p.Glu1951Ter)
c.2152G>T (p.Glu718Ter)
c.6238G>T (p.Glu2080Ter)
c.5602G>T (p.Glu1868Ter)
c.2392G>T (p.Glu798Ter)
5g.177294027A>CCA362324722NSD1c.5786A>C (p.Glu1929Ala)
c.1301A>C (p.Glu434Ala)
n.6242A>C
n.1075A>C
c.6350A>C (p.Glu2117Ala)
n.6056A>C
c.6659A>C (p.Glu2220Ala)
c.5852A>C (p.Glu1951Ala)
c.2153A>C (p.Glu718Ala)
c.6239A>C (p.Glu2080Ala)
c.5603A>C (p.Glu1868Ala)
c.2393A>C (p.Glu798Ala)
5g.177294027A>GCA362324724NSD1c.5786A>G (p.Glu1929Gly)
c.1301A>G (p.Glu434Gly)
n.6242A>G
n.1075A>G
c.6350A>G (p.Glu2117Gly)
n.6056A>G
c.6659A>G (p.Glu2220Gly)
c.5852A>G (p.Glu1951Gly)
c.2153A>G (p.Glu718Gly)
c.6239A>G (p.Glu2080Gly)
c.5603A>G (p.Glu1868Gly)
c.2393A>G (p.Glu798Gly)
5g.177294027A>TCA362324736NSD1c.5786A>T (p.Glu1929Val)
c.1301A>T (p.Glu434Val)
n.6242A>T
n.1075A>T
c.6350A>T (p.Glu2117Val)
n.6056A>T
c.6659A>T (p.Glu2220Val)
c.5852A>T (p.Glu1951Val)
c.2153A>T (p.Glu718Val)
c.6239A>T (p.Glu2080Val)
c.5603A>T (p.Glu1868Val)
c.2393A>T (p.Glu798Val)
5g.177294028G>ACA447961627NSD1c.5787G>A (p.Glu1929=)
c.1302G>A (p.Glu434=)
n.6243G>A
n.1076G>A
c.6351G>A (p.Glu2117=)
n.6057G>A
c.6660G>A (p.Glu2220=)
c.5853G>A (p.Glu1951=)
c.2154G>A (p.Glu718=)
c.6240G>A (p.Glu2080=)
c.5604G>A (p.Glu1868=)
c.2394G>A (p.Glu798=)
 dbSNP gnomAD v4
5g.177294028G>CCA362324739NSD1c.5787G>C (p.Glu1929Asp)
c.1302G>C (p.Glu434Asp)
n.6243G>C
n.1076G>C
c.6351G>C (p.Glu2117Asp)
n.6057G>C
c.6660G>C (p.Glu2220Asp)
c.5853G>C (p.Glu1951Asp)
c.2154G>C (p.Glu718Asp)
c.6240G>C (p.Glu2080Asp)
c.5604G>C (p.Glu1868Asp)
c.2394G>C (p.Glu798Asp)
5g.177294028G>TCA362324744NSD1c.5787G>T (p.Glu1929Asp)
c.1302G>T (p.Glu434Asp)
n.6243G>T
n.1076G>T
c.6351G>T (p.Glu2117Asp)
n.6057G>T
c.6660G>T (p.Glu2220Asp)
c.5853G>T (p.Glu1951Asp)
c.2154G>T (p.Glu718Asp)
c.6240G>T (p.Glu2080Asp)
c.5604G>T (p.Glu1868Asp)
c.2394G>T (p.Glu798Asp)
5g.177294029T>ACA362324748NSD1c.5788T>A (p.Tyr1930Asn)
c.1303T>A (p.Tyr435Asn)
n.6244T>A
n.1077T>A
c.6352T>A (p.Tyr2118Asn)
n.6058T>A
c.6661T>A (p.Tyr2221Asn)
c.5854T>A (p.Tyr1952Asn)
c.2155T>A (p.Tyr719Asn)
c.6241T>A (p.Tyr2081Asn)
c.5605T>A (p.Tyr1869Asn)
c.2395T>A (p.Tyr799Asn)
5g.177294029T>CCA362324751NSD1c.5788T>C (p.Tyr1930His)
c.1303T>C (p.Tyr435His)
n.6244T>C
n.1077T>C
c.6352T>C (p.Tyr2118His)
n.6058T>C
c.6661T>C (p.Tyr2221His)
c.5854T>C (p.Tyr1952His)
c.2155T>C (p.Tyr719His)
c.6241T>C (p.Tyr2081His)
c.5605T>C (p.Tyr1869His)
c.2395T>C (p.Tyr799His)
5g.177294029T>GCA362324754NSD1c.5788T>G (p.Tyr1930Asp)
c.1303T>G (p.Tyr435Asp)
n.6244T>G
n.1077T>G
c.6352T>G (p.Tyr2118Asp)
n.6058T>G
c.6661T>G (p.Tyr2221Asp)
c.5854T>G (p.Tyr1952Asp)
c.2155T>G (p.Tyr719Asp)
c.6241T>G (p.Tyr2081Asp)
c.5605T>G (p.Tyr1869Asp)
c.2395T>G (p.Tyr799Asp)
5g.177294030A=CA1603535641NSD1c.5789A= (p.Tyr1930=)
c.1304A= (p.Tyr435=)
n.6245A=
n.1078A=
c.6353A= (p.Tyr2118=)
n.6059A=
c.6662A= (p.Tyr2221=)
c.5855A= (p.Tyr1952=)
c.2156A= (p.Tyr719=)
c.6242A= (p.Tyr2081=)
c.5606A= (p.Tyr1869=)
c.2396A= (p.Tyr799=)
5g.177294030A>CCA362324758NSD1c.5789A>C (p.Tyr1930Ser)
c.1304A>C (p.Tyr435Ser)
n.6245A>C
n.1078A>C
c.6353A>C (p.Tyr2118Ser)
n.6059A>C
c.6662A>C (p.Tyr2221Ser)
c.5855A>C (p.Tyr1952Ser)
c.2156A>C (p.Tyr719Ser)
c.6242A>C (p.Tyr2081Ser)
c.5606A>C (p.Tyr1869Ser)
c.2396A>C (p.Tyr799Ser)
 gnomAD v4
5g.177294030A>GCA362324759NSD1c.5789A>G (p.Tyr1930Cys)
c.1304A>G (p.Tyr435Cys)
n.6245A>G
n.1078A>G
c.6353A>G (p.Tyr2118Cys)
n.6059A>G
c.6662A>G (p.Tyr2221Cys)
c.5855A>G (p.Tyr1952Cys)
c.2156A>G (p.Tyr719Cys)
c.6242A>G (p.Tyr2081Cys)
c.5606A>G (p.Tyr1869Cys)
c.2396A>G (p.Tyr799Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177294030A>TCA362324762NSD1c.5789A>T (p.Tyr1930Phe)
c.1304A>T (p.Tyr435Phe)
n.6245A>T
n.1078A>T
c.6353A>T (p.Tyr2118Phe)
n.6059A>T
c.6662A>T (p.Tyr2221Phe)
c.5855A>T (p.Tyr1952Phe)
c.2156A>T (p.Tyr719Phe)
c.6242A>T (p.Tyr2081Phe)
c.5606A>T (p.Tyr1869Phe)
c.2396A>T (p.Tyr799Phe)
5g.177294031T>ACA362324767NSD1c.5790T>A (p.Tyr1930Ter)
c.1305T>A (p.Tyr435Ter)
n.6246T>A
n.1079T>A
c.6354T>A (p.Tyr2118Ter)
n.6060T>A
c.6663T>A (p.Tyr2221Ter)
c.5856T>A (p.Tyr1952Ter)
c.2157T>A (p.Tyr719Ter)
c.6243T>A (p.Tyr2081Ter)
c.5607T>A (p.Tyr1869Ter)
c.2397T>A (p.Tyr799Ter)
5g.177294031T>CCA447961631NSD1c.5790T>C (p.Tyr1930=)
c.1305T>C (p.Tyr435=)
n.6246T>C
n.1079T>C
c.6354T>C (p.Tyr2118=)
n.6060T>C
c.6663T>C (p.Tyr2221=)
c.5856T>C (p.Tyr1952=)
c.2157T>C (p.Tyr719=)
c.6243T>C (p.Tyr2081=)
c.5607T>C (p.Tyr1869=)
c.2397T>C (p.Tyr799=)
 dbSNP gnomAD v3 gnomAD v4
5g.177294031T>GCA362324773NSD1c.5790T>G (p.Tyr1930Ter)
c.1305T>G (p.Tyr435Ter)
n.6246T>G
n.1079T>G
c.6354T>G (p.Tyr2118Ter)
n.6060T>G
c.6663T>G (p.Tyr2221Ter)
c.5856T>G (p.Tyr1952Ter)
c.2157T>G (p.Tyr719Ter)
c.6243T>G (p.Tyr2081Ter)
c.5607T>G (p.Tyr1869Ter)
c.2397T>G (p.Tyr799Ter)
5g.177294031T=CA1603535644NSD1c.5790T= (p.Tyr1930=)
c.1305T= (p.Tyr435=)
n.6246T=
n.1079T=
c.6354T= (p.Tyr2118=)
n.6060T=
c.6663T= (p.Tyr2221=)
c.5856T= (p.Tyr1952=)
c.2157T= (p.Tyr719=)
c.6243T= (p.Tyr2081=)
c.5607T= (p.Tyr1869=)
c.2397T= (p.Tyr799=)
5g.177294032G>ACA362324777NSD1c.5791G>A (p.Val1931Met)
c.1306G>A (p.Val436Met)
n.6247G>A
n.1080G>A
c.6355G>A (p.Val2119Met)
n.6061G>A
c.6664G>A (p.Val2222Met)
c.5857G>A (p.Val1953Met)
c.2158G>A (p.Val720Met)
c.6244G>A (p.Val2082Met)
c.5608G>A (p.Val1870Met)
c.2398G>A (p.Val800Met)
 dbSNP gnomAD v2
5g.177294032G>CCA362324779NSD1c.5791G>C (p.Val1931Leu)
c.1306G>C (p.Val436Leu)
n.6247G>C
n.1080G>C
c.6355G>C (p.Val2119Leu)
n.6061G>C
c.6664G>C (p.Val2222Leu)
c.5857G>C (p.Val1953Leu)
c.2158G>C (p.Val720Leu)
c.6244G>C (p.Val2082Leu)
c.5608G>C (p.Val1870Leu)
c.2398G>C (p.Val800Leu)
5g.177294032G=CA1603535645NSD1c.5791G= (p.Val1931=)
c.1306G= (p.Val436=)
n.6247G=
n.1080G=
c.6355G= (p.Val2119=)
n.6061G=
c.6664G= (p.Val2222=)
c.5857G= (p.Val1953=)
c.2158G= (p.Val720=)
c.6244G= (p.Val2082=)
c.5608G= (p.Val1870=)
c.2398G= (p.Val800=)
5g.177294032G>TCA362324781NSD1c.5791G>T (p.Val1931Leu)
c.1306G>T (p.Val436Leu)
n.6247G>T
n.1080G>T
c.6355G>T (p.Val2119Leu)
n.6061G>T
c.6664G>T (p.Val2222Leu)
c.5857G>T (p.Val1953Leu)
c.2158G>T (p.Val720Leu)
c.6244G>T (p.Val2082Leu)
c.5608G>T (p.Val1870Leu)
c.2398G>T (p.Val800Leu)
5g.177294033T>ACA362324791NSD1c.5792T>A (p.Val1931Glu)
c.1307T>A (p.Val436Glu)
n.6248T>A
n.1081T>A
c.6356T>A (p.Val2119Glu)
n.6062T>A
c.6665T>A (p.Val2222Glu)
c.5858T>A (p.Val1953Glu)
c.2159T>A (p.Val720Glu)
c.6245T>A (p.Val2082Glu)
c.5609T>A (p.Val1870Glu)
c.2399T>A (p.Val800Glu)
5g.177294033T>CCA362324787NSD1c.5792T>C (p.Val1931Ala)
c.1307T>C (p.Val436Ala)
n.6248T>C
n.1081T>C
c.6356T>C (p.Val2119Ala)
n.6062T>C
c.6665T>C (p.Val2222Ala)
c.5858T>C (p.Val1953Ala)
c.2159T>C (p.Val720Ala)
c.6245T>C (p.Val2082Ala)
c.5609T>C (p.Val1870Ala)
c.2399T>C (p.Val800Ala)
5g.177294033T>GCA362324783NSD1c.5792T>G (p.Val1931Gly)
c.1307T>G (p.Val436Gly)
n.6248T>G
n.1081T>G
c.6356T>G (p.Val2119Gly)
n.6062T>G
c.6665T>G (p.Val2222Gly)
c.5858T>G (p.Val1953Gly)
c.2159T>G (p.Val720Gly)
c.6245T>G (p.Val2082Gly)
c.5609T>G (p.Val1870Gly)
c.2399T>G (p.Val800Gly)
5g.177294040_177294057dupCA645548644NSD1c.5799_5816dup (p.Pro1939_Gly1940insProValProLeuProPro)
c.1314_1331dup (p.Pro444_Gly445insProValProLeuProPro)
n.6255_6272dup
n.1088_1105dup
c.6363_6380dup (p.Pro2127_Gly2128insProValProLeuProPro)
n.6069_6086dup
c.6672_6689dup (p.Pro2230_Gly2231insProValProLeuProPro)
c.5865_5882dup (p.Pro1961_Gly1962insProValProLeuProPro)
c.2166_2183dup (p.Pro728_Gly729insProValProLeuProPro)
c.6252_6269dup (p.Pro2090_Gly2091insProValProLeuProPro)
c.5616_5633dup (p.Pro1878_Gly1879insProValProLeuProPro)
c.2406_2423dup (p.Pro808_Gly809insProValProLeuProPro)
 COSMIC COSMIC
5g.177294034G>ACA447961636NSD1c.5793G>A (p.Val1931=)
c.1308G>A (p.Val436=)
n.6249G>A
n.1082G>A
c.6357G>A (p.Val2119=)
n.6063G>A
c.6666G>A (p.Val2222=)
c.5859G>A (p.Val1953=)
c.2160G>A (p.Val720=)
c.6246G>A (p.Val2082=)
c.5610G>A (p.Val1870=)
c.2400G>A (p.Val800=)
 dbSNP gnomAD v4
5g.177294034G>CCA447961637NSD1c.5793G>C (p.Val1931=)
c.1308G>C (p.Val436=)
n.6249G>C
n.1082G>C
c.6357G>C (p.Val2119=)
n.6063G>C
c.6666G>C (p.Val2222=)
c.5859G>C (p.Val1953=)
c.2160G>C (p.Val720=)
c.6246G>C (p.Val2082=)
c.5610G>C (p.Val1870=)
c.2400G>C (p.Val800=)
5g.177294034G>TCA447961638NSD1c.5793G>T (p.Val1931=)
c.1308G>T (p.Val436=)
n.6249G>T
n.1082G>T
c.6357G>T (p.Val2119=)
n.6063G>T
c.6666G>T (p.Val2222=)
c.5859G>T (p.Val1953=)
c.2160G>T (p.Val720=)
c.6246G>T (p.Val2082=)
c.5610G>T (p.Val1870=)
c.2400G>T (p.Val800=)
5g.177294035C>ACA362324795NSD1c.5794C>A (p.Pro1932Thr)
c.1309C>A (p.Pro437Thr)
n.6250C>A
n.1083C>A
c.6358C>A (p.Pro2120Thr)
n.6064C>A
c.6667C>A (p.Pro2223Thr)
c.5860C>A (p.Pro1954Thr)
c.2161C>A (p.Pro721Thr)
c.6247C>A (p.Pro2083Thr)
c.5611C>A (p.Pro1871Thr)
c.2401C>A (p.Pro801Thr)
5g.177294035C=CA1603535649NSD1c.5794C= (p.Pro1932=)
c.1309C= (p.Pro437=)
n.6250C=
n.1083C=
c.6358C= (p.Pro2120=)
n.6064C=
c.6667C= (p.Pro2223=)
c.5860C= (p.Pro1954=)
c.2161C= (p.Pro721=)
c.6247C= (p.Pro2083=)
c.5611C= (p.Pro1871=)
c.2401C= (p.Pro801=)
5g.177294035C>GCA362324799NSD1c.5794C>G (p.Pro1932Ala)
c.1309C>G (p.Pro437Ala)
n.6250C>G
n.1083C>G
c.6358C>G (p.Pro2120Ala)
n.6064C>G
c.6667C>G (p.Pro2223Ala)
c.5860C>G (p.Pro1954Ala)
c.2161C>G (p.Pro721Ala)
c.6247C>G (p.Pro2083Ala)
c.5611C>G (p.Pro1871Ala)
c.2401C>G (p.Pro801Ala)
5g.177294035C>TCA362324802NSD1c.5794C>T (p.Pro1932Ser)
c.1309C>T (p.Pro437Ser)
n.6250C>T
n.1083C>T
c.6358C>T (p.Pro2120Ser)
n.6064C>T
c.6667C>T (p.Pro2223Ser)
c.5860C>T (p.Pro1954Ser)
c.2161C>T (p.Pro721Ser)
c.6247C>T (p.Pro2083Ser)
c.5611C>T (p.Pro1871Ser)
c.2401C>T (p.Pro801Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177294036C>ACA362324810NSD1c.5795C>A (p.Pro1932His)
c.1310C>A (p.Pro437His)
n.6251C>A
n.1084C>A
c.6359C>A (p.Pro2120His)
n.6065C>A
c.6668C>A (p.Pro2223His)
c.5861C>A (p.Pro1954His)
c.2162C>A (p.Pro721His)
c.6248C>A (p.Pro2083His)
c.5612C>A (p.Pro1871His)
c.2402C>A (p.Pro801His)
 dbSNP
5g.177294036C>GCA362324815NSD1c.5795C>G (p.Pro1932Arg)
c.1310C>G (p.Pro437Arg)
n.6251C>G
n.1084C>G
c.6359C>G (p.Pro2120Arg)
n.6065C>G
c.6668C>G (p.Pro2223Arg)
c.5861C>G (p.Pro1954Arg)
c.2162C>G (p.Pro721Arg)
c.6248C>G (p.Pro2083Arg)
c.5612C>G (p.Pro1871Arg)
c.2402C>G (p.Pro801Arg)
5g.177294036C>TCA362324816NSD1c.5795C>T (p.Pro1932Leu)
c.1310C>T (p.Pro437Leu)
n.6251C>T
n.1084C>T
c.6359C>T (p.Pro2120Leu)
n.6065C>T
c.6668C>T (p.Pro2223Leu)
c.5861C>T (p.Pro1954Leu)
c.2162C>T (p.Pro721Leu)
c.6248C>T (p.Pro2083Leu)
c.5612C>T (p.Pro1871Leu)
c.2402C>T (p.Pro801Leu)
5g.177294037T>ACA447961643NSD1c.5796T>A (p.Pro1932=)
c.1311T>A (p.Pro437=)
n.6252T>A
n.1085T>A
c.6360T>A (p.Pro2120=)
n.6066T>A
c.6669T>A (p.Pro2223=)
c.5862T>A (p.Pro1954=)
c.2163T>A (p.Pro721=)
c.6249T>A (p.Pro2083=)
c.5613T>A (p.Pro1871=)
c.2403T>A (p.Pro801=)
5g.177294037T>CCA3578024NSD1c.5796T>C (p.Pro1932=)
c.1311T>C (p.Pro437=)
n.6252T>C
n.1085T>C
c.6360T>C (p.Pro2120=)
n.6066T>C
c.6669T>C (p.Pro2223=)
c.5862T>C (p.Pro1954=)
c.2163T>C (p.Pro721=)
c.6249T>C (p.Pro2083=)
c.5613T>C (p.Pro1871=)
c.2403T>C (p.Pro801=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294037T>GCA447961644NSD1c.5796T>G (p.Pro1932=)
c.1311T>G (p.Pro437=)
n.6252T>G
n.1085T>G
c.6360T>G (p.Pro2120=)
n.6066T>G
c.6669T>G (p.Pro2223=)
c.5862T>G (p.Pro1954=)
c.2163T>G (p.Pro721=)
c.6249T>G (p.Pro2083=)
c.5613T>G (p.Pro1871=)
c.2403T>G (p.Pro801=)
5g.177294037T=CA1603535654NSD1c.5796T= (p.Pro1932=)
c.1311T= (p.Pro437=)
n.6252T=
n.1085T=
c.6360T= (p.Pro2120=)
n.6066T=
c.6669T= (p.Pro2223=)
c.5862T= (p.Pro1954=)
c.2163T= (p.Pro721=)
c.6249T= (p.Pro2083=)
c.5613T= (p.Pro1871=)
c.2403T= (p.Pro801=)
5g.177294038C>ACA362324817NSD1c.5797C>A (p.Pro1933Thr)
c.1312C>A (p.Pro438Thr)
n.6253C>A
n.1086C>A
c.6361C>A (p.Pro2121Thr)
n.6067C>A
c.6670C>A (p.Pro2224Thr)
c.5863C>A (p.Pro1955Thr)
c.2164C>A (p.Pro722Thr)
c.6250C>A (p.Pro2084Thr)
c.5614C>A (p.Pro1872Thr)
c.2404C>A (p.Pro802Thr)
5g.177294038C>GCA362324820NSD1c.5797C>G (p.Pro1933Ala)
c.1312C>G (p.Pro438Ala)
n.6253C>G
n.1086C>G
c.6361C>G (p.Pro2121Ala)
n.6067C>G
c.6670C>G (p.Pro2224Ala)
c.5863C>G (p.Pro1955Ala)
c.2164C>G (p.Pro722Ala)
c.6250C>G (p.Pro2084Ala)
c.5614C>G (p.Pro1872Ala)
c.2404C>G (p.Pro802Ala)
5g.177294038C>TCA362324822NSD1c.5797C>T (p.Pro1933Ser)
c.1312C>T (p.Pro438Ser)
n.6253C>T
n.1086C>T
c.6361C>T (p.Pro2121Ser)
n.6067C>T
c.6670C>T (p.Pro2224Ser)
c.5863C>T (p.Pro1955Ser)
c.2164C>T (p.Pro722Ser)
c.6250C>T (p.Pro2084Ser)
c.5614C>T (p.Pro1872Ser)
c.2404C>T (p.Pro802Ser)
 gnomAD v4
5g.177294042delCA2711004818NSD1c.5801del (p.Pro1934GlnfsTer?)
c.1316del (p.Pro439GlnfsTer?)
n.6257del
n.1090del
c.6365del (p.Pro2122GlnfsTer?)
n.6071del
c.6674del (p.Pro2225GlnfsTer?)
c.5867del (p.Pro1956GlnfsTer?)
c.2168del (p.Pro723GlnfsTer?)
c.6254del (p.Pro2085GlnfsTer?)
c.5618del (p.Pro1873GlnfsTer?)
c.2408del (p.Pro803GlnfsTer?)
 dbSNP
5g.177294039C>ACA362324825NSD1c.5798C>A (p.Pro1933His)
c.1313C>A (p.Pro438His)
n.6254C>A
n.1087C>A
c.6362C>A (p.Pro2121His)
n.6068C>A
c.6671C>A (p.Pro2224His)
c.5864C>A (p.Pro1955His)
c.2165C>A (p.Pro722His)
c.6251C>A (p.Pro2084His)
c.5615C>A (p.Pro1872His)
c.2405C>A (p.Pro802His)
5g.177294039C>GCA362324829NSD1c.5798C>G (p.Pro1933Arg)
c.1313C>G (p.Pro438Arg)
n.6254C>G
n.1087C>G
c.6362C>G (p.Pro2121Arg)
n.6068C>G
c.6671C>G (p.Pro2224Arg)
c.5864C>G (p.Pro1955Arg)
c.2165C>G (p.Pro722Arg)
c.6251C>G (p.Pro2084Arg)
c.5615C>G (p.Pro1872Arg)
c.2405C>G (p.Pro802Arg)
5g.177294039C>TCA362324832NSD1c.5798C>T (p.Pro1933Leu)
c.1313C>T (p.Pro438Leu)
n.6254C>T
n.1087C>T
c.6362C>T (p.Pro2121Leu)
n.6068C>T
c.6671C>T (p.Pro2224Leu)
c.5864C>T (p.Pro1955Leu)
c.2165C>T (p.Pro722Leu)
c.6251C>T (p.Pro2084Leu)
c.5615C>T (p.Pro1872Leu)
c.2405C>T (p.Pro802Leu)
 dbSNP gnomAD v4
5g.177294040C>ACA447961648NSD1c.5799C>A (p.Pro1933=)
c.1314C>A (p.Pro438=)
n.6255C>A
n.1088C>A
c.6363C>A (p.Pro2121=)
n.6069C>A
c.6672C>A (p.Pro2224=)
c.5865C>A (p.Pro1955=)
c.2166C>A (p.Pro722=)
c.6252C>A (p.Pro2084=)
c.5616C>A (p.Pro1872=)
c.2406C>A (p.Pro802=)
 dbSNP
5g.177294040C=CA1603535661NSD1c.5799C= (p.Pro1933=)
c.1314C= (p.Pro438=)
n.6255C=
n.1088C=
c.6363C= (p.Pro2121=)
n.6069C=
c.6672C= (p.Pro2224=)
c.5865C= (p.Pro1955=)
c.2166C= (p.Pro722=)
c.6252C= (p.Pro2084=)
c.5616C= (p.Pro1872=)
c.2406C= (p.Pro802=)
5g.177294040C>GCA447961651NSD1c.5799C>G (p.Pro1933=)
c.1314C>G (p.Pro438=)
n.6255C>G
n.1088C>G
c.6363C>G (p.Pro2121=)
n.6069C>G
c.6672C>G (p.Pro2224=)
c.5865C>G (p.Pro1955=)
c.2166C>G (p.Pro722=)
c.6252C>G (p.Pro2084=)
c.5616C>G (p.Pro1872=)
c.2406C>G (p.Pro802=)
 dbSNP gnomAD v3 gnomAD v4
5g.177294040C>TCA447961652NSD1c.5799C>T (p.Pro1933=)
c.1314C>T (p.Pro438=)
n.6255C>T
n.1088C>T
c.6363C>T (p.Pro2121=)
n.6069C>T
c.6672C>T (p.Pro2224=)
c.5865C>T (p.Pro1955=)
c.2166C>T (p.Pro722=)
c.6252C>T (p.Pro2084=)
c.5616C>T (p.Pro1872=)
c.2406C>T (p.Pro802=)
5g.177294041C>ACA362324838NSD1c.5800C>A (p.Pro1934Thr)
c.1315C>A (p.Pro439Thr)
n.6256C>A
n.1089C>A
c.6364C>A (p.Pro2122Thr)
n.6070C>A
c.6673C>A (p.Pro2225Thr)
c.5866C>A (p.Pro1956Thr)
c.2167C>A (p.Pro723Thr)
c.6253C>A (p.Pro2085Thr)
c.5617C>A (p.Pro1873Thr)
c.2407C>A (p.Pro803Thr)
 gnomAD v3 gnomAD v4
5g.177294041C=CA1603535666NSD1c.5800C= (p.Pro1934=)
c.1315C= (p.Pro439=)
n.6256C=
n.1089C=
c.6364C= (p.Pro2122=)
n.6070C=
c.6673C= (p.Pro2225=)
c.5866C= (p.Pro1956=)
c.2167C= (p.Pro723=)
c.6253C= (p.Pro2085=)
c.5617C= (p.Pro1873=)
c.2407C= (p.Pro803=)
5g.177294041C>GCA362324842NSD1c.5800C>G (p.Pro1934Ala)
c.1315C>G (p.Pro439Ala)
n.6256C>G
n.1089C>G
c.6364C>G (p.Pro2122Ala)
n.6070C>G
c.6673C>G (p.Pro2225Ala)
c.5866C>G (p.Pro1956Ala)
c.2167C>G (p.Pro723Ala)
c.6253C>G (p.Pro2085Ala)
c.5617C>G (p.Pro1873Ala)
c.2407C>G (p.Pro803Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177294041C>TCA362324835NSD1c.5800C>T (p.Pro1934Ser)
c.1315C>T (p.Pro439Ser)
n.6256C>T
n.1089C>T
c.6364C>T (p.Pro2122Ser)
n.6070C>T
c.6673C>T (p.Pro2225Ser)
c.5866C>T (p.Pro1956Ser)
c.2167C>T (p.Pro723Ser)
c.6253C>T (p.Pro2085Ser)
c.5617C>T (p.Pro1873Ser)
c.2407C>T (p.Pro803Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177294042C>ACA362324852NSD1c.5801C>A (p.Pro1934Gln)
c.1316C>A (p.Pro439Gln)
n.6257C>A
n.1090C>A
c.6365C>A (p.Pro2122Gln)
n.6071C>A
c.6674C>A (p.Pro2225Gln)
c.5867C>A (p.Pro1956Gln)
c.2168C>A (p.Pro723Gln)
c.6254C>A (p.Pro2085Gln)
c.5618C>A (p.Pro1873Gln)
c.2408C>A (p.Pro803Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177294042C=CA1603535668NSD1c.5801C= (p.Pro1934=)
c.1316C= (p.Pro439=)
n.6257C=
n.1090C=
c.6365C= (p.Pro2122=)
n.6071C=
c.6674C= (p.Pro2225=)
c.5867C= (p.Pro1956=)
c.2168C= (p.Pro723=)
c.6254C= (p.Pro2085=)
c.5618C= (p.Pro1873=)
c.2408C= (p.Pro803=)
5g.177294042C>GCA3578025NSD1c.5801C>G (p.Pro1934Arg)
c.1316C>G (p.Pro439Arg)
n.6257C>G
n.1090C>G
c.6365C>G (p.Pro2122Arg)
n.6071C>G
c.6674C>G (p.Pro2225Arg)
c.5867C>G (p.Pro1956Arg)
c.2168C>G (p.Pro723Arg)
c.6254C>G (p.Pro2085Arg)
c.5618C>G (p.Pro1873Arg)
c.2408C>G (p.Pro803Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294042C>TCA362324849NSD1c.5801C>T (p.Pro1934Leu)
c.1316C>T (p.Pro439Leu)
n.6257C>T
n.1090C>T
c.6365C>T (p.Pro2122Leu)
n.6071C>T
c.6674C>T (p.Pro2225Leu)
c.5867C>T (p.Pro1956Leu)
c.2168C>T (p.Pro723Leu)
c.6254C>T (p.Pro2085Leu)
c.5618C>T (p.Pro1873Leu)
c.2408C>T (p.Pro803Leu)
 gnomAD v4
5g.177294043A=CA1603535671NSD1c.5802A= (p.Pro1934=)
c.1317A= (p.Pro439=)
n.6258A=
n.1091A=
c.6366A= (p.Pro2122=)
n.6072A=
c.6675A= (p.Pro2225=)
c.5868A= (p.Pro1956=)
c.2169A= (p.Pro723=)
c.6255A= (p.Pro2085=)
c.5619A= (p.Pro1873=)
c.2409A= (p.Pro803=)
5g.177294043A>CCA3578026NSD1c.5802A>C (p.Pro1934=)
c.1317A>C (p.Pro439=)
n.6258A>C
n.1091A>C
c.6366A>C (p.Pro2122=)
n.6072A>C
c.6675A>C (p.Pro2225=)
c.5868A>C (p.Pro1956=)
c.2169A>C (p.Pro723=)
c.6255A>C (p.Pro2085=)
c.5619A>C (p.Pro1873=)
c.2409A>C (p.Pro803=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294043A>GCA447961653NSD1c.5802A>G (p.Pro1934=)
c.1317A>G (p.Pro439=)
n.6258A>G
n.1091A>G
c.6366A>G (p.Pro2122=)
n.6072A>G
c.6675A>G (p.Pro2225=)
c.5868A>G (p.Pro1956=)
c.2169A>G (p.Pro723=)
c.6255A>G (p.Pro2085=)
c.5619A>G (p.Pro1873=)
c.2409A>G (p.Pro803=)
5g.177294043A>TCA447961654NSD1c.5802A>T (p.Pro1934=)
c.1317A>T (p.Pro439=)
n.6258A>T
n.1091A>T
c.6366A>T (p.Pro2122=)
n.6072A>T
c.6675A>T (p.Pro2225=)
c.5868A>T (p.Pro1956=)
c.2169A>T (p.Pro723=)
c.6255A>T (p.Pro2085=)
c.5619A>T (p.Pro1873=)
c.2409A>T (p.Pro803=)
5g.177294044G>ACA362324861NSD1c.5803G>A (p.Val1935Ile)
c.1318G>A (p.Val440Ile)
n.6259G>A
n.1092G>A
c.6367G>A (p.Val2123Ile)
n.6073G>A
c.6676G>A (p.Val2226Ile)
c.5869G>A (p.Val1957Ile)
c.2170G>A (p.Val724Ile)
c.6256G>A (p.Val2086Ile)
c.5620G>A (p.Val1874Ile)
c.2410G>A (p.Val804Ile)
 dbSNP gnomAD v4
5g.177294044G>CCA362324863NSD1c.5803G>C (p.Val1935Leu)
c.1318G>C (p.Val440Leu)
n.6259G>C
n.1092G>C
c.6367G>C (p.Val2123Leu)
n.6073G>C
c.6676G>C (p.Val2226Leu)
c.5869G>C (p.Val1957Leu)
c.2170G>C (p.Val724Leu)
c.6256G>C (p.Val2086Leu)
c.5620G>C (p.Val1874Leu)
c.2410G>C (p.Val804Leu)
5g.177294044G>TCA362324864NSD1c.5803G>T (p.Val1935Leu)
c.1318G>T (p.Val440Leu)
n.6259G>T
n.1092G>T
c.6367G>T (p.Val2123Leu)
n.6073G>T
c.6676G>T (p.Val2226Leu)
c.5869G>T (p.Val1957Leu)
c.2170G>T (p.Val724Leu)
c.6256G>T (p.Val2086Leu)
c.5620G>T (p.Val1874Leu)
c.2410G>T (p.Val804Leu)
5g.177294045T>ACA362324869NSD1c.5804T>A (p.Val1935Glu)
c.1319T>A (p.Val440Glu)
n.6260T>A
n.1093T>A
c.6368T>A (p.Val2123Glu)
n.6074T>A
c.6677T>A (p.Val2226Glu)
c.5870T>A (p.Val1957Glu)
c.2171T>A (p.Val724Glu)
c.6257T>A (p.Val2086Glu)
c.5621T>A (p.Val1874Glu)
c.2411T>A (p.Val804Glu)
5g.177294045T>CCA362324871NSD1c.5804T>C (p.Val1935Ala)
c.1319T>C (p.Val440Ala)
n.6260T>C
n.1093T>C
c.6368T>C (p.Val2123Ala)
n.6074T>C
c.6677T>C (p.Val2226Ala)
c.5870T>C (p.Val1957Ala)
c.2171T>C (p.Val724Ala)
c.6257T>C (p.Val2086Ala)
c.5621T>C (p.Val1874Ala)
c.2411T>C (p.Val804Ala)
5g.177294045T>GCA362324875NSD1c.5804T>G (p.Val1935Gly)
c.1319T>G (p.Val440Gly)
n.6260T>G
n.1093T>G
c.6368T>G (p.Val2123Gly)
n.6074T>G
c.6677T>G (p.Val2226Gly)
c.5870T>G (p.Val1957Gly)
c.2171T>G (p.Val724Gly)
c.6257T>G (p.Val2086Gly)
c.5621T>G (p.Val1874Gly)
c.2411T>G (p.Val804Gly)
5g.177294046A>CCA447961657NSD1c.5805A>C (p.Val1935=)
c.1320A>C (p.Val440=)
n.6261A>C
n.1094A>C
c.6369A>C (p.Val2123=)
n.6075A>C
c.6678A>C (p.Val2226=)
c.5871A>C (p.Val1957=)
c.2172A>C (p.Val724=)
c.6258A>C (p.Val2086=)
c.5622A>C (p.Val1874=)
c.2412A>C (p.Val804=)
5g.177294046A>GCA447961659NSD1c.5805A>G (p.Val1935=)
c.1320A>G (p.Val440=)
n.6261A>G
n.1094A>G
c.6369A>G (p.Val2123=)
n.6075A>G
c.6678A>G (p.Val2226=)
c.5871A>G (p.Val1957=)
c.2172A>G (p.Val724=)
c.6258A>G (p.Val2086=)
c.5622A>G (p.Val1874=)
c.2412A>G (p.Val804=)
5g.177294046A>TCA447961658NSD1c.5805A>T (p.Val1935=)
c.1320A>T (p.Val440=)
n.6261A>T
n.1094A>T
c.6369A>T (p.Val2123=)
n.6075A>T
c.6678A>T (p.Val2226=)
c.5871A>T (p.Val1957=)
c.2172A>T (p.Val724=)
c.6258A>T (p.Val2086=)
c.5622A>T (p.Val1874=)
c.2412A>T (p.Val804=)
5g.177294047C>ACA362324878NSD1c.5806C>A (p.Pro1936Thr)
c.1321C>A (p.Pro441Thr)
n.6262C>A
n.1095C>A
c.6370C>A (p.Pro2124Thr)
n.6076C>A
c.6679C>A (p.Pro2227Thr)
c.5872C>A (p.Pro1958Thr)
c.2173C>A (p.Pro725Thr)
c.6259C>A (p.Pro2087Thr)
c.5623C>A (p.Pro1875Thr)
c.2413C>A (p.Pro805Thr)
5g.177294047C>GCA362324881NSD1c.5806C>G (p.Pro1936Ala)
c.1321C>G (p.Pro441Ala)
n.6262C>G
n.1095C>G
c.6370C>G (p.Pro2124Ala)
n.6076C>G
c.6679C>G (p.Pro2227Ala)
c.5872C>G (p.Pro1958Ala)
c.2173C>G (p.Pro725Ala)
c.6259C>G (p.Pro2087Ala)
c.5623C>G (p.Pro1875Ala)
c.2413C>G (p.Pro805Ala)
5g.177294047C>TCA362324883NSD1c.5806C>T (p.Pro1936Ser)
c.1321C>T (p.Pro441Ser)
n.6262C>T
n.1095C>T
c.6370C>T (p.Pro2124Ser)
n.6076C>T
c.6679C>T (p.Pro2227Ser)
c.5872C>T (p.Pro1958Ser)
c.2173C>T (p.Pro725Ser)
c.6259C>T (p.Pro2087Ser)
c.5623C>T (p.Pro1875Ser)
c.2413C>T (p.Pro805Ser)
 dbSNP
5g.177294048C>ACA362324890NSD1c.5807C>A (p.Pro1936Gln)
c.1322C>A (p.Pro441Gln)
n.6263C>A
n.1096C>A
c.6371C>A (p.Pro2124Gln)
n.6077C>A
c.6680C>A (p.Pro2227Gln)
c.5873C>A (p.Pro1958Gln)
c.2174C>A (p.Pro725Gln)
c.6260C>A (p.Pro2087Gln)
c.5624C>A (p.Pro1875Gln)
c.2414C>A (p.Pro805Gln)
 dbSNP
5g.177294048C=CA1603535674NSD1c.5807C= (p.Pro1936=)
c.1322C= (p.Pro441=)
n.6263C=
n.1096C=
c.6371C= (p.Pro2124=)
n.6077C=
c.6680C= (p.Pro2227=)
c.5873C= (p.Pro1958=)
c.2174C= (p.Pro725=)
c.6260C= (p.Pro2087=)
c.5624C= (p.Pro1875=)
c.2414C= (p.Pro805=)
5g.177294048C>GCA362324886NSD1c.5807C>G (p.Pro1936Arg)
c.1322C>G (p.Pro441Arg)
n.6263C>G
n.1096C>G
c.6371C>G (p.Pro2124Arg)
n.6077C>G
c.6680C>G (p.Pro2227Arg)
c.5873C>G (p.Pro1958Arg)
c.2174C>G (p.Pro725Arg)
c.6260C>G (p.Pro2087Arg)
c.5624C>G (p.Pro1875Arg)
c.2414C>G (p.Pro805Arg)
5g.177294048C>TCA3578027NSD1c.5807C>T (p.Pro1936Leu)
c.1322C>T (p.Pro441Leu)
n.6263C>T
n.1096C>T
c.6371C>T (p.Pro2124Leu)
n.6077C>T
c.6680C>T (p.Pro2227Leu)
c.5873C>T (p.Pro1958Leu)
c.2174C>T (p.Pro725Leu)
c.6260C>T (p.Pro2087Leu)
c.5624C>T (p.Pro1875Leu)
c.2414C>T (p.Pro805Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294049G>ACA3578028NSD1c.5808G>A (p.Pro1936=)
c.1323G>A (p.Pro441=)
n.6264G>A
n.1097G>A
c.6372G>A (p.Pro2124=)
n.6078G>A
c.6681G>A (p.Pro2227=)
c.5874G>A (p.Pro1958=)
c.2175G>A (p.Pro725=)
c.6261G>A (p.Pro2087=)
c.5625G>A (p.Pro1875=)
c.2415G>A (p.Pro805=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294049G>CCA447961663NSD1c.5808G>C (p.Pro1936=)
c.1323G>C (p.Pro441=)
n.6264G>C
n.1097G>C
c.6372G>C (p.Pro2124=)
n.6078G>C
c.6681G>C (p.Pro2227=)
c.5874G>C (p.Pro1958=)
c.2175G>C (p.Pro725=)
c.6261G>C (p.Pro2087=)
c.5625G>C (p.Pro1875=)
c.2415G>C (p.Pro805=)
 dbSNP
5g.177294049G=CA1603535676NSD1c.5808G= (p.Pro1936=)
c.1323G= (p.Pro441=)
n.6264G=
n.1097G=
c.6372G= (p.Pro2124=)
n.6078G=
c.6681G= (p.Pro2227=)
c.5874G= (p.Pro1958=)
c.2175G= (p.Pro725=)
c.6261G= (p.Pro2087=)
c.5625G= (p.Pro1875=)
c.2415G= (p.Pro805=)
5g.177294049G>TCA447961664NSD1c.5808G>T (p.Pro1936=)
c.1323G>T (p.Pro441=)
n.6264G>T
n.1097G>T
c.6372G>T (p.Pro2124=)
n.6078G>T
c.6681G>T (p.Pro2227=)
c.5874G>T (p.Pro1958=)
c.2175G>T (p.Pro725=)
c.6261G>T (p.Pro2087=)
c.5625G>T (p.Pro1875=)
c.2415G>T (p.Pro805=)
5g.177294050C>ACA362324896NSD1c.5809C>A (p.Leu1937Met)
c.1324C>A (p.Leu442Met)
n.6265C>A
n.1098C>A
c.6373C>A (p.Leu2125Met)
n.6079C>A
c.6682C>A (p.Leu2228Met)
c.5875C>A (p.Leu1959Met)
c.2176C>A (p.Leu726Met)
c.6262C>A (p.Leu2088Met)
c.5626C>A (p.Leu1876Met)
c.2416C>A (p.Leu806Met)
5g.177294050C>GCA362324905NSD1c.5809C>G (p.Leu1937Val)
c.1324C>G (p.Leu442Val)
n.6265C>G
n.1098C>G
c.6373C>G (p.Leu2125Val)
n.6079C>G
c.6682C>G (p.Leu2228Val)
c.5875C>G (p.Leu1959Val)
c.2176C>G (p.Leu726Val)
c.6262C>G (p.Leu2088Val)
c.5626C>G (p.Leu1876Val)
c.2416C>G (p.Leu806Val)
5g.177294050C>TCA447961668NSD1c.5809C>T (p.Leu1937=)
c.1324C>T (p.Leu442=)
n.6265C>T
n.1098C>T
c.6373C>T (p.Leu2125=)
n.6079C>T
c.6682C>T (p.Leu2228=)
c.5875C>T (p.Leu1959=)
c.2176C>T (p.Leu726=)
c.6262C>T (p.Leu2088=)
c.5626C>T (p.Leu1876=)
c.2416C>T (p.Leu806=)
5g.177294051T>ACA362324909NSD1c.5810T>A (p.Leu1937Gln)
c.1325T>A (p.Leu442Gln)
n.6266T>A
n.1099T>A
c.6374T>A (p.Leu2125Gln)
n.6080T>A
c.6683T>A (p.Leu2228Gln)
c.5876T>A (p.Leu1959Gln)
c.2177T>A (p.Leu726Gln)
c.6263T>A (p.Leu2088Gln)
c.5627T>A (p.Leu1876Gln)
c.2417T>A (p.Leu806Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.177294051T>CCA362324915NSD1c.5810T>C (p.Leu1937Pro)
c.1325T>C (p.Leu442Pro)
n.6266T>C
n.1099T>C
c.6374T>C (p.Leu2125Pro)
n.6080T>C
c.6683T>C (p.Leu2228Pro)
c.5876T>C (p.Leu1959Pro)
c.2177T>C (p.Leu726Pro)
c.6263T>C (p.Leu2088Pro)
c.5627T>C (p.Leu1876Pro)
c.2417T>C (p.Leu806Pro)
5g.177294051T>GCA362324917NSD1c.5810T>G (p.Leu1937Arg)
c.1325T>G (p.Leu442Arg)
n.6266T>G
n.1099T>G
c.6374T>G (p.Leu2125Arg)
n.6080T>G
c.6683T>G (p.Leu2228Arg)
c.5876T>G (p.Leu1959Arg)
c.2177T>G (p.Leu726Arg)
c.6263T>G (p.Leu2088Arg)
c.5627T>G (p.Leu1876Arg)
c.2417T>G (p.Leu806Arg)
5g.177294051T=CA1603535680NSD1c.5810T= (p.Leu1937=)
c.1325T= (p.Leu442=)
n.6266T=
n.1099T=
c.6374T= (p.Leu2125=)
n.6080T=
c.6683T= (p.Leu2228=)
c.5876T= (p.Leu1959=)
c.2177T= (p.Leu726=)
c.6263T= (p.Leu2088=)
c.5627T= (p.Leu1876=)
c.2417T= (p.Leu806=)
5g.177294051_177294052delinsCTCA1139659264NSD1c.5810_5811delinsCT (p.Leu1937Pro)
c.1325_1326delinsCT (p.Leu442Pro)
n.6266_6267delinsCT
n.1099_1100delinsCT
c.6374_6375delinsCT (p.Leu2125Pro)
n.6080_6081delinsCT
c.6683_6684delinsCT (p.Leu2228Pro)
c.5876_5877delinsCT (p.Leu1959Pro)
c.2177_2178delinsCT (p.Leu726Pro)
c.6263_6264delinsCT (p.Leu2088Pro)
c.5627_5628delinsCT (p.Leu1876Pro)
c.2417_2418delinsCT (p.Leu806Pro)
 ClinVar dbSNP
5g.177294051_177294052delinsTGCA1603535682NSD1c.5810_5811delinsTG (p.Leu1937=)
c.1325_1326delinsTG (p.Leu442=)
n.6266_6267delinsTG
n.1099_1100delinsTG
c.6374_6375delinsTG (p.Leu2125=)
n.6080_6081delinsTG
c.6683_6684delinsTG (p.Leu2228=)
c.5876_5877delinsTG (p.Leu1959=)
c.2177_2178delinsTG (p.Leu726=)
c.6263_6264delinsTG (p.Leu2088=)
c.5627_5628delinsTG (p.Leu1876=)
c.2417_2418delinsTG (p.Leu806=)
5g.177294052G>ACA447961672NSD1c.5811G>A (p.Leu1937=)
c.1326G>A (p.Leu442=)
n.6267G>A
n.1100G>A
c.6375G>A (p.Leu2125=)
n.6081G>A
c.6684G>A (p.Leu2228=)
c.5877G>A (p.Leu1959=)
c.2178G>A (p.Leu726=)
c.6264G>A (p.Leu2088=)
c.5628G>A (p.Leu1876=)
c.2418G>A (p.Leu806=)
 dbSNP gnomAD v3 gnomAD v4
5g.177294052G>CCA447961673NSD1c.5811G>C (p.Leu1937=)
c.1326G>C (p.Leu442=)
n.6267G>C
n.1100G>C
c.6375G>C (p.Leu2125=)
n.6081G>C
c.6684G>C (p.Leu2228=)
c.5877G>C (p.Leu1959=)
c.2178G>C (p.Leu726=)
c.6264G>C (p.Leu2088=)
c.5628G>C (p.Leu1876=)
c.2418G>C (p.Leu806=)
5g.177294052G=CA1603535685NSD1c.5811G= (p.Leu1937=)
c.1326G= (p.Leu442=)
n.6267G=
n.1100G=
c.6375G= (p.Leu2125=)
n.6081G=
c.6684G= (p.Leu2228=)
c.5877G= (p.Leu1959=)
c.2178G= (p.Leu726=)
c.6264G= (p.Leu2088=)
c.5628G= (p.Leu1876=)
c.2418G= (p.Leu806=)
5g.177294052G>TCA447961674NSD1c.5811G>T (p.Leu1937=)
c.1326G>T (p.Leu442=)
n.6267G>T
n.1100G>T
c.6375G>T (p.Leu2125=)
n.6081G>T
c.6684G>T (p.Leu2228=)
c.5877G>T (p.Leu1959=)
c.2178G>T (p.Leu726=)
c.6264G>T (p.Leu2088=)
c.5628G>T (p.Leu1876=)
c.2418G>T (p.Leu806=)
5g.177294053C>ACA362324922NSD1c.5812C>A (p.Pro1938Thr)
c.1327C>A (p.Pro443Thr)
n.6268C>A
n.1101C>A
c.6376C>A (p.Pro2126Thr)
n.6082C>A
c.6685C>A (p.Pro2229Thr)
c.5878C>A (p.Pro1960Thr)
c.2179C>A (p.Pro727Thr)
c.6265C>A (p.Pro2089Thr)
c.5629C>A (p.Pro1877Thr)
c.2419C>A (p.Pro807Thr)
5g.177294053C>GCA362324927NSD1c.5812C>G (p.Pro1938Ala)
c.1327C>G (p.Pro443Ala)
n.6268C>G
n.1101C>G
c.6376C>G (p.Pro2126Ala)
n.6082C>G
c.6685C>G (p.Pro2229Ala)
c.5878C>G (p.Pro1960Ala)
c.2179C>G (p.Pro727Ala)
c.6265C>G (p.Pro2089Ala)
c.5629C>G (p.Pro1877Ala)
c.2419C>G (p.Pro807Ala)
5g.177294053C>TCA362324929NSD1c.5812C>T (p.Pro1938Ser)
c.1327C>T (p.Pro443Ser)
n.6268C>T
n.1101C>T
c.6376C>T (p.Pro2126Ser)
n.6082C>T
c.6685C>T (p.Pro2229Ser)
c.5878C>T (p.Pro1960Ser)
c.2179C>T (p.Pro727Ser)
c.6265C>T (p.Pro2089Ser)
c.5629C>T (p.Pro1877Ser)
c.2419C>T (p.Pro807Ser)
 dbSNP
5g.177294054C>ACA362324935NSD1c.5813C>A (p.Pro1938His)
c.1328C>A (p.Pro443His)
n.6269C>A
n.1102C>A
c.6377C>A (p.Pro2126His)
n.6083C>A
c.6686C>A (p.Pro2229His)
c.5879C>A (p.Pro1960His)
c.2180C>A (p.Pro727His)
c.6266C>A (p.Pro2089His)
c.5630C>A (p.Pro1877His)
c.2420C>A (p.Pro807His)
5g.177294054C>GCA362324941NSD1c.5813C>G (p.Pro1938Arg)
c.1328C>G (p.Pro443Arg)
n.6269C>G
n.1102C>G
c.6377C>G (p.Pro2126Arg)
n.6083C>G
c.6686C>G (p.Pro2229Arg)
c.5879C>G (p.Pro1960Arg)
c.2180C>G (p.Pro727Arg)
c.6266C>G (p.Pro2089Arg)
c.5630C>G (p.Pro1877Arg)
c.2420C>G (p.Pro807Arg)
5g.177294054C>TCA362324943NSD1c.5813C>T (p.Pro1938Leu)
c.1328C>T (p.Pro443Leu)
n.6269C>T
n.1102C>T
c.6377C>T (p.Pro2126Leu)
n.6083C>T
c.6686C>T (p.Pro2229Leu)
c.5879C>T (p.Pro1960Leu)
c.2180C>T (p.Pro727Leu)
c.6266C>T (p.Pro2089Leu)
c.5630C>T (p.Pro1877Leu)
c.2420C>T (p.Pro807Leu)
5g.177294055T>ACA447961678NSD1c.5814T>A (p.Pro1938=)
c.1329T>A (p.Pro443=)
n.6270T>A
n.1103T>A
c.6378T>A (p.Pro2126=)
n.6084T>A
c.6687T>A (p.Pro2229=)
c.5880T>A (p.Pro1960=)
c.2181T>A (p.Pro727=)
c.6267T>A (p.Pro2089=)
c.5631T>A (p.Pro1877=)
c.2421T>A (p.Pro807=)
5g.177294055T>CCA447961679NSD1c.5814T>C (p.Pro1938=)
c.1329T>C (p.Pro443=)
n.6270T>C
n.1103T>C
c.6378T>C (p.Pro2126=)
n.6084T>C
c.6687T>C (p.Pro2229=)
c.5880T>C (p.Pro1960=)
c.2181T>C (p.Pro727=)
c.6267T>C (p.Pro2089=)
c.5631T>C (p.Pro1877=)
c.2421T>C (p.Pro807=)
5g.177294055T>GCA447961680NSD1c.5814T>G (p.Pro1938=)
c.1329T>G (p.Pro443=)
n.6270T>G
n.1103T>G
c.6378T>G (p.Pro2126=)
n.6084T>G
c.6687T>G (p.Pro2229=)
c.5880T>G (p.Pro1960=)
c.2181T>G (p.Pro727=)
c.6267T>G (p.Pro2089=)
c.5631T>G (p.Pro1877=)
c.2421T>G (p.Pro807=)
5g.177294056C>ACA362324945NSD1c.5815C>A (p.Pro1939Thr)
c.1330C>A (p.Pro444Thr)
n.6271C>A
n.1104C>A
c.6379C>A (p.Pro2127Thr)
n.6085C>A
c.6688C>A (p.Pro2230Thr)
c.5881C>A (p.Pro1961Thr)
c.2182C>A (p.Pro728Thr)
c.6268C>A (p.Pro2090Thr)
c.5632C>A (p.Pro1878Thr)
c.2422C>A (p.Pro808Thr)
5g.177294056C=CA1603535686NSD1c.5815C= (p.Pro1939=)
c.1330C= (p.Pro444=)
n.6271C=
n.1104C=
c.6379C= (p.Pro2127=)
n.6085C=
c.6688C= (p.Pro2230=)
c.5881C= (p.Pro1961=)
c.2182C= (p.Pro728=)
c.6268C= (p.Pro2090=)
c.5632C= (p.Pro1878=)
c.2422C= (p.Pro808=)
5g.177294056C>GCA362324947NSD1c.5815C>G (p.Pro1939Ala)
c.1330C>G (p.Pro444Ala)
n.6271C>G
n.1104C>G
c.6379C>G (p.Pro2127Ala)
n.6085C>G
c.6688C>G (p.Pro2230Ala)
c.5881C>G (p.Pro1961Ala)
c.2182C>G (p.Pro728Ala)
c.6268C>G (p.Pro2090Ala)
c.5632C>G (p.Pro1878Ala)
c.2422C>G (p.Pro808Ala)
5g.177294056C>TCA132862537NSD1c.5815C>T (p.Pro1939Ser)
c.1330C>T (p.Pro444Ser)
n.6271C>T
n.1104C>T
c.6379C>T (p.Pro2127Ser)
n.6085C>T
c.6688C>T (p.Pro2230Ser)
c.5881C>T (p.Pro1961Ser)
c.2182C>T (p.Pro728Ser)
c.6268C>T (p.Pro2090Ser)
c.5632C>T (p.Pro1878Ser)
c.2422C>T (p.Pro808Ser)
 dbSNP
5g.177294057C>ACA362324951NSD1c.5816C>A (p.Pro1939Gln)
c.1331C>A (p.Pro444Gln)
n.6272C>A
n.1105C>A
c.6380C>A (p.Pro2127Gln)
n.6086C>A
c.6689C>A (p.Pro2230Gln)
c.5882C>A (p.Pro1961Gln)
c.2183C>A (p.Pro728Gln)
c.6269C>A (p.Pro2090Gln)
c.5633C>A (p.Pro1878Gln)
c.2423C>A (p.Pro808Gln)
5g.177294057C>GCA362324955NSD1c.5816C>G (p.Pro1939Arg)
c.1331C>G (p.Pro444Arg)
n.6272C>G
n.1105C>G
c.6380C>G (p.Pro2127Arg)
n.6086C>G
c.6689C>G (p.Pro2230Arg)
c.5882C>G (p.Pro1961Arg)
c.2183C>G (p.Pro728Arg)
c.6269C>G (p.Pro2090Arg)
c.5633C>G (p.Pro1878Arg)
c.2423C>G (p.Pro808Arg)
5g.177294057C>TCA362324959NSD1c.5816C>T (p.Pro1939Leu)
c.1331C>T (p.Pro444Leu)
n.6272C>T
n.1105C>T
c.6380C>T (p.Pro2127Leu)
n.6086C>T
c.6689C>T (p.Pro2230Leu)
c.5882C>T (p.Pro1961Leu)
c.2183C>T (p.Pro728Leu)
c.6269C>T (p.Pro2090Leu)
c.5633C>T (p.Pro1878Leu)
c.2423C>T (p.Pro808Leu)
5g.177294058A>CCA447961685NSD1c.5817A>C (p.Pro1939=)
c.1332A>C (p.Pro444=)
n.6273A>C
n.1106A>C
c.6381A>C (p.Pro2127=)
n.6087A>C
c.6690A>C (p.Pro2230=)
c.5883A>C (p.Pro1961=)
c.2184A>C (p.Pro728=)
c.6270A>C (p.Pro2090=)
c.5634A>C (p.Pro1878=)
c.2424A>C (p.Pro808=)
5g.177294058A>GCA447961686NSD1c.5817A>G (p.Pro1939=)
c.1332A>G (p.Pro444=)
n.6273A>G
n.1106A>G
c.6381A>G (p.Pro2127=)
n.6087A>G
c.6690A>G (p.Pro2230=)
c.5883A>G (p.Pro1961=)
c.2184A>G (p.Pro728=)
c.6270A>G (p.Pro2090=)
c.5634A>G (p.Pro1878=)
c.2424A>G (p.Pro808=)
 dbSNP
5g.177294058A>TCA447961687NSD1c.5817A>T (p.Pro1939=)
c.1332A>T (p.Pro444=)
n.6273A>T
n.1106A>T
c.6381A>T (p.Pro2127=)
n.6087A>T
c.6690A>T (p.Pro2230=)
c.5883A>T (p.Pro1961=)
c.2184A>T (p.Pro728=)
c.6270A>T (p.Pro2090=)
c.5634A>T (p.Pro1878=)
c.2424A>T (p.Pro808=)
5g.177294059G>ACA362324964NSD1c.5818G>A (p.Gly1940Arg)
c.1333G>A (p.Gly445Arg)
n.6274G>A
n.1107G>A
c.6382G>A (p.Gly2128Arg)
n.6088G>A
c.6691G>A (p.Gly2231Arg)
c.5884G>A (p.Gly1962Arg)
c.2185G>A (p.Gly729Arg)
c.6271G>A (p.Gly2091Arg)
c.5635G>A (p.Gly1879Arg)
c.2425G>A (p.Gly809Arg)
 gnomAD v4
5g.177294059G>CCA362324966NSD1c.5818G>C (p.Gly1940Arg)
c.1333G>C (p.Gly445Arg)
n.6274G>C
n.1107G>C
c.6382G>C (p.Gly2128Arg)
n.6088G>C
c.6691G>C (p.Gly2231Arg)
c.5884G>C (p.Gly1962Arg)
c.2185G>C (p.Gly729Arg)
c.6271G>C (p.Gly2091Arg)
c.5635G>C (p.Gly1879Arg)
c.2425G>C (p.Gly809Arg)
5g.177294059G>TCA362324969NSD1c.5818G>T (p.Gly1940Trp)
c.1333G>T (p.Gly445Trp)
n.6274G>T
n.1107G>T
c.6382G>T (p.Gly2128Trp)
n.6088G>T
c.6691G>T (p.Gly2231Trp)
c.5884G>T (p.Gly1962Trp)
c.2185G>T (p.Gly729Trp)
c.6271G>T (p.Gly2091Trp)
c.5635G>T (p.Gly1879Trp)
c.2425G>T (p.Gly809Trp)
5g.177294060G>ACA362324974NSD1c.5819G>A (p.Gly1940Glu)
c.1334G>A (p.Gly445Glu)
n.6275G>A
n.1108G>A
c.6383G>A (p.Gly2128Glu)
n.6089G>A
c.6692G>A (p.Gly2231Glu)
c.5885G>A (p.Gly1962Glu)
c.2186G>A (p.Gly729Glu)
c.6272G>A (p.Gly2091Glu)
c.5636G>A (p.Gly1879Glu)
c.2426G>A (p.Gly809Glu)
5g.177294060G>CCA362324978NSD1c.5819G>C (p.Gly1940Ala)
c.1334G>C (p.Gly445Ala)
n.6275G>C
n.1108G>C
c.6383G>C (p.Gly2128Ala)
n.6089G>C
c.6692G>C (p.Gly2231Ala)
c.5885G>C (p.Gly1962Ala)
c.2186G>C (p.Gly729Ala)
c.6272G>C (p.Gly2091Ala)
c.5636G>C (p.Gly1879Ala)
c.2426G>C (p.Gly809Ala)
5g.177294060G>TCA362324981NSD1c.5819G>T (p.Gly1940Val)
c.1334G>T (p.Gly445Val)
n.6275G>T
n.1108G>T
c.6383G>T (p.Gly2128Val)
n.6089G>T
c.6692G>T (p.Gly2231Val)
c.5885G>T (p.Gly1962Val)
c.2186G>T (p.Gly729Val)
c.6272G>T (p.Gly2091Val)
c.5636G>T (p.Gly1879Val)
c.2426G>T (p.Gly809Val)
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

Number of alleles fetched