Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.177294102C>ACA362325372NSD1c.5861C>A (p.Ala1954Asp)
c.1376C>A (p.Ala459Asp)
n.6317C>A
n.1150C>A
c.6425C>A (p.Ala2142Asp)
n.6131C>A
c.6734C>A (p.Ala2245Asp)
c.5927C>A (p.Ala1976Asp)
c.2228C>A (p.Ala743Asp)
c.6314C>A (p.Ala2105Asp)
c.5678C>A (p.Ala1893Asp)
c.2468C>A (p.Ala823Asp)
5g.177294102C=CA1603535735NSD1c.5861C= (p.Ala1954=)
c.1376C= (p.Ala459=)
n.6317C=
n.1150C=
c.6425C= (p.Ala2142=)
n.6131C=
c.6734C= (p.Ala2245=)
c.5927C= (p.Ala1976=)
c.2228C= (p.Ala743=)
c.6314C= (p.Ala2105=)
c.5678C= (p.Ala1893=)
c.2468C= (p.Ala823=)
5g.177294102C>GCA362325380NSD1c.5861C>G (p.Ala1954Gly)
c.1376C>G (p.Ala459Gly)
n.6317C>G
n.1150C>G
c.6425C>G (p.Ala2142Gly)
n.6131C>G
c.6734C>G (p.Ala2245Gly)
c.5927C>G (p.Ala1976Gly)
c.2228C>G (p.Ala743Gly)
c.6314C>G (p.Ala2105Gly)
c.5678C>G (p.Ala1893Gly)
c.2468C>G (p.Ala823Gly)
5g.177294102C>TCA3578035NSD1c.5861C>T (p.Ala1954Val)
c.1376C>T (p.Ala459Val)
n.6317C>T
n.1150C>T
c.6425C>T (p.Ala2142Val)
n.6131C>T
c.6734C>T (p.Ala2245Val)
c.5927C>T (p.Ala1976Val)
c.2228C>T (p.Ala743Val)
c.6314C>T (p.Ala2105Val)
c.5678C>T (p.Ala1893Val)
c.2468C>T (p.Ala823Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294103T>ACA447961773NSD1c.5862T>A (p.Ala1954=)
c.1377T>A (p.Ala459=)
n.6318T>A
n.1151T>A
c.6426T>A (p.Ala2142=)
n.6132T>A
c.6735T>A (p.Ala2245=)
c.5928T>A (p.Ala1976=)
c.2229T>A (p.Ala743=)
c.6315T>A (p.Ala2105=)
c.5679T>A (p.Ala1893=)
c.2469T>A (p.Ala823=)
5g.177294103T>CCA447961774NSD1c.5862T>C (p.Ala1954=)
c.1377T>C (p.Ala459=)
n.6318T>C
n.1151T>C
c.6426T>C (p.Ala2142=)
n.6132T>C
c.6735T>C (p.Ala2245=)
c.5928T>C (p.Ala1976=)
c.2229T>C (p.Ala743=)
c.6315T>C (p.Ala2105=)
c.5679T>C (p.Ala1893=)
c.2469T>C (p.Ala823=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177294103T>GCA447961775NSD1c.5862T>G (p.Ala1954=)
c.1377T>G (p.Ala459=)
n.6318T>G
n.1151T>G
c.6426T>G (p.Ala2142=)
n.6132T>G
c.6735T>G (p.Ala2245=)
c.5928T>G (p.Ala1976=)
c.2229T>G (p.Ala743=)
c.6315T>G (p.Ala2105=)
c.5679T>G (p.Ala1893=)
c.2469T>G (p.Ala823=)
5g.177294103T=CA1603535740NSD1c.5862T= (p.Ala1954=)
c.1377T= (p.Ala459=)
n.6318T=
n.1151T=
c.6426T= (p.Ala2142=)
n.6132T=
c.6735T= (p.Ala2245=)
c.5928T= (p.Ala1976=)
c.2229T= (p.Ala743=)
c.6315T= (p.Ala2105=)
c.5679T= (p.Ala1893=)
c.2469T= (p.Ala823=)
5g.177294104C>ACA362325386NSD1c.5863C>A (p.Gln1955Lys)
c.1378C>A (p.Gln460Lys)
n.6319C>A
n.1152C>A
c.6427C>A (p.Gln2143Lys)
n.6133C>A
c.6736C>A (p.Gln2246Lys)
c.5929C>A (p.Gln1977Lys)
c.2230C>A (p.Gln744Lys)
c.6316C>A (p.Gln2106Lys)
c.5680C>A (p.Gln1894Lys)
c.2470C>A (p.Gln824Lys)
 gnomAD v4
5g.177294104C>GCA362325387NSD1c.5863C>G (p.Gln1955Glu)
c.1378C>G (p.Gln460Glu)
n.6319C>G
n.1152C>G
c.6427C>G (p.Gln2143Glu)
n.6133C>G
c.6736C>G (p.Gln2246Glu)
c.5929C>G (p.Gln1977Glu)
c.2230C>G (p.Gln744Glu)
c.6316C>G (p.Gln2106Glu)
c.5680C>G (p.Gln1894Glu)
c.2470C>G (p.Gln824Glu)
5g.177294104C>TCA362325389NSD1c.5863C>T (p.Gln1955Ter)
c.1378C>T (p.Gln460Ter)
n.6319C>T
n.1152C>T
c.6427C>T (p.Gln2143Ter)
n.6133C>T
c.6736C>T (p.Gln2246Ter)
c.5929C>T (p.Gln1977Ter)
c.2230C>T (p.Gln744Ter)
c.6316C>T (p.Gln2106Ter)
c.5680C>T (p.Gln1894Ter)
c.2470C>T (p.Gln824Ter)
5g.177294105A>CCA362325400NSD1c.5864A>C (p.Gln1955Pro)
c.1379A>C (p.Gln460Pro)
n.6320A>C
n.1153A>C
c.6428A>C (p.Gln2143Pro)
n.6134A>C
c.6737A>C (p.Gln2246Pro)
c.5930A>C (p.Gln1977Pro)
c.2231A>C (p.Gln744Pro)
c.6317A>C (p.Gln2106Pro)
c.5681A>C (p.Gln1894Pro)
c.2471A>C (p.Gln824Pro)
5g.177294105A>GCA362325394NSD1c.5864A>G (p.Gln1955Arg)
c.1379A>G (p.Gln460Arg)
n.6320A>G
n.1153A>G
c.6428A>G (p.Gln2143Arg)
n.6134A>G
c.6737A>G (p.Gln2246Arg)
c.5930A>G (p.Gln1977Arg)
c.2231A>G (p.Gln744Arg)
c.6317A>G (p.Gln2106Arg)
c.5681A>G (p.Gln1894Arg)
c.2471A>G (p.Gln824Arg)
 dbSNP
5g.177294105A>TCA362325397NSD1c.5864A>T (p.Gln1955Leu)
c.1379A>T (p.Gln460Leu)
n.6320A>T
n.1153A>T
c.6428A>T (p.Gln2143Leu)
n.6134A>T
c.6737A>T (p.Gln2246Leu)
c.5930A>T (p.Gln1977Leu)
c.2231A>T (p.Gln744Leu)
c.6317A>T (p.Gln2106Leu)
c.5681A>T (p.Gln1894Leu)
c.2471A>T (p.Gln824Leu)
5g.177294106G>ACA447961780NSD1c.5865G>A (p.Gln1955=)
c.1380G>A (p.Gln460=)
n.6321G>A
n.1154G>A
c.6429G>A (p.Gln2143=)
n.6135G>A
c.6738G>A (p.Gln2246=)
c.5931G>A (p.Gln1977=)
c.2232G>A (p.Gln744=)
c.6318G>A (p.Gln2106=)
c.5682G>A (p.Gln1894=)
c.2472G>A (p.Gln824=)
5g.177294106G>CCA362325405NSD1c.5865G>C (p.Gln1955His)
c.1380G>C (p.Gln460His)
n.6321G>C
n.1154G>C
c.6429G>C (p.Gln2143His)
n.6135G>C
c.6738G>C (p.Gln2246His)
c.5931G>C (p.Gln1977His)
c.2232G>C (p.Gln744His)
c.6318G>C (p.Gln2106His)
c.5682G>C (p.Gln1894His)
c.2472G>C (p.Gln824His)
5g.177294106G>TCA362325408NSD1c.5865G>T (p.Gln1955His)
c.1380G>T (p.Gln460His)
n.6321G>T
n.1154G>T
c.6429G>T (p.Gln2143His)
n.6135G>T
c.6738G>T (p.Gln2246His)
c.5931G>T (p.Gln1977His)
c.2232G>T (p.Gln744His)
c.6318G>T (p.Gln2106His)
c.5682G>T (p.Gln1894His)
c.2472G>T (p.Gln824His)
 COSMIC COSMIC
5g.177294107G>ACA362325415NSD1c.5866G>A (p.Ala1956Thr)
c.1381G>A (p.Ala461Thr)
n.6322G>A
n.1155G>A
c.6430G>A (p.Ala2144Thr)
n.6136G>A
c.6739G>A (p.Ala2247Thr)
c.5932G>A (p.Ala1978Thr)
c.2233G>A (p.Ala745Thr)
c.6319G>A (p.Ala2107Thr)
c.5683G>A (p.Ala1895Thr)
c.2473G>A (p.Ala825Thr)
 dbSNP COSMIC COSMIC
5g.177294107G>CCA362325420NSD1c.5866G>C (p.Ala1956Pro)
c.1381G>C (p.Ala461Pro)
n.6322G>C
n.1155G>C
c.6430G>C (p.Ala2144Pro)
n.6136G>C
c.6739G>C (p.Ala2247Pro)
c.5932G>C (p.Ala1978Pro)
c.2233G>C (p.Ala745Pro)
c.6319G>C (p.Ala2107Pro)
c.5683G>C (p.Ala1895Pro)
c.2473G>C (p.Ala825Pro)
5g.177294107G>TCA362325423NSD1c.5866G>T (p.Ala1956Ser)
c.1381G>T (p.Ala461Ser)
n.6322G>T
n.1155G>T
c.6430G>T (p.Ala2144Ser)
n.6136G>T
c.6739G>T (p.Ala2247Ser)
c.5932G>T (p.Ala1978Ser)
c.2233G>T (p.Ala745Ser)
c.6319G>T (p.Ala2107Ser)
c.5683G>T (p.Ala1895Ser)
c.2473G>T (p.Ala825Ser)
5g.177294108C>ACA362325431NSD1c.5867C>A (p.Ala1956Glu)
c.1382C>A (p.Ala461Glu)
n.6323C>A
n.1156C>A
c.6431C>A (p.Ala2144Glu)
n.6137C>A
c.6740C>A (p.Ala2247Glu)
c.5933C>A (p.Ala1978Glu)
c.2234C>A (p.Ala745Glu)
c.6320C>A (p.Ala2107Glu)
c.5684C>A (p.Ala1895Glu)
c.2474C>A (p.Ala825Glu)
5g.177294108C=CA1603535743NSD1c.5867C= (p.Ala1956=)
c.1382C= (p.Ala461=)
n.6323C=
n.1156C=
c.6431C= (p.Ala2144=)
n.6137C=
c.6740C= (p.Ala2247=)
c.5933C= (p.Ala1978=)
c.2234C= (p.Ala745=)
c.6320C= (p.Ala2107=)
c.5684C= (p.Ala1895=)
c.2474C= (p.Ala825=)
5g.177294108C>GCA362325438NSD1c.5867C>G (p.Ala1956Gly)
c.1382C>G (p.Ala461Gly)
n.6323C>G
n.1156C>G
c.6431C>G (p.Ala2144Gly)
n.6137C>G
c.6740C>G (p.Ala2247Gly)
c.5933C>G (p.Ala1978Gly)
c.2234C>G (p.Ala745Gly)
c.6320C>G (p.Ala2107Gly)
c.5684C>G (p.Ala1895Gly)
c.2474C>G (p.Ala825Gly)
5g.177294108C>TCA362325433NSD1c.5867C>T (p.Ala1956Val)
c.1382C>T (p.Ala461Val)
n.6323C>T
n.1156C>T
c.6431C>T (p.Ala2144Val)
n.6137C>T
c.6740C>T (p.Ala2247Val)
c.5933C>T (p.Ala1978Val)
c.2234C>T (p.Ala745Val)
c.6320C>T (p.Ala2107Val)
c.5684C>T (p.Ala1895Val)
c.2474C>T (p.Ala825Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177294109A>CCA447961781NSD1c.5868A>C (p.Ala1956=)
c.1383A>C (p.Ala461=)
n.6324A>C
n.1157A>C
c.6432A>C (p.Ala2144=)
n.6138A>C
c.6741A>C (p.Ala2247=)
c.5934A>C (p.Ala1978=)
c.2235A>C (p.Ala745=)
c.6321A>C (p.Ala2107=)
c.5685A>C (p.Ala1895=)
c.2475A>C (p.Ala825=)
5g.177294109A>GCA447961782NSD1c.5868A>G (p.Ala1956=)
c.1383A>G (p.Ala461=)
n.6324A>G
n.1157A>G
c.6432A>G (p.Ala2144=)
n.6138A>G
c.6741A>G (p.Ala2247=)
c.5934A>G (p.Ala1978=)
c.2235A>G (p.Ala745=)
c.6321A>G (p.Ala2107=)
c.5685A>G (p.Ala1895=)
c.2475A>G (p.Ala825=)
 gnomAD v4
5g.177294109A>TCA447961783NSD1c.5868A>T (p.Ala1956=)
c.1383A>T (p.Ala461=)
n.6324A>T
n.1157A>T
c.6432A>T (p.Ala2144=)
n.6138A>T
c.6741A>T (p.Ala2247=)
c.5934A>T (p.Ala1978=)
c.2235A>T (p.Ala745=)
c.6321A>T (p.Ala2107=)
c.5685A>T (p.Ala1895=)
c.2475A>T (p.Ala825=)
5g.177294110C>ACA362325445NSD1c.5869C>A (p.Pro1957Thr)
c.1384C>A (p.Pro462Thr)
n.6325C>A
n.1158C>A
c.6433C>A (p.Pro2145Thr)
n.6139C>A
c.6742C>A (p.Pro2248Thr)
c.5935C>A (p.Pro1979Thr)
c.2236C>A (p.Pro746Thr)
c.6322C>A (p.Pro2108Thr)
c.5686C>A (p.Pro1896Thr)
c.2476C>A (p.Pro826Thr)
5g.177294110C>GCA362325450NSD1c.5869C>G (p.Pro1957Ala)
c.1384C>G (p.Pro462Ala)
n.6325C>G
n.1158C>G
c.6433C>G (p.Pro2145Ala)
n.6139C>G
c.6742C>G (p.Pro2248Ala)
c.5935C>G (p.Pro1979Ala)
c.2236C>G (p.Pro746Ala)
c.6322C>G (p.Pro2108Ala)
c.5686C>G (p.Pro1896Ala)
c.2476C>G (p.Pro826Ala)
5g.177294110C>TCA362325455NSD1c.5869C>T (p.Pro1957Ser)
c.1384C>T (p.Pro462Ser)
n.6325C>T
n.1158C>T
c.6433C>T (p.Pro2145Ser)
n.6139C>T
c.6742C>T (p.Pro2248Ser)
c.5935C>T (p.Pro1979Ser)
c.2236C>T (p.Pro746Ser)
c.6322C>T (p.Pro2108Ser)
c.5686C>T (p.Pro1896Ser)
c.2476C>T (p.Pro826Ser)
5g.177294111C>ACA362325458NSD1c.5870C>A (p.Pro1957His)
c.1385C>A (p.Pro462His)
n.6326C>A
n.1159C>A
c.6434C>A (p.Pro2145His)
n.6140C>A
c.6743C>A (p.Pro2248His)
c.5936C>A (p.Pro1979His)
c.2237C>A (p.Pro746His)
c.6323C>A (p.Pro2108His)
c.5687C>A (p.Pro1896His)
c.2477C>A (p.Pro826His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177294111C=CA1603535751NSD1c.5870C= (p.Pro1957=)
c.1385C= (p.Pro462=)
n.6326C=
n.1159C=
c.6434C= (p.Pro2145=)
n.6140C=
c.6743C= (p.Pro2248=)
c.5936C= (p.Pro1979=)
c.2237C= (p.Pro746=)
c.6323C= (p.Pro2108=)
c.5687C= (p.Pro1896=)
c.2477C= (p.Pro826=)
5g.177294111C>GCA362325460NSD1c.5870C>G (p.Pro1957Arg)
c.1385C>G (p.Pro462Arg)
n.6326C>G
n.1159C>G
c.6434C>G (p.Pro2145Arg)
n.6140C>G
c.6743C>G (p.Pro2248Arg)
c.5936C>G (p.Pro1979Arg)
c.2237C>G (p.Pro746Arg)
c.6323C>G (p.Pro2108Arg)
c.5687C>G (p.Pro1896Arg)
c.2477C>G (p.Pro826Arg)
5g.177294111C>TCA362325464NSD1c.5870C>T (p.Pro1957Leu)
c.1385C>T (p.Pro462Leu)
n.6326C>T
n.1159C>T
c.6434C>T (p.Pro2145Leu)
n.6140C>T
c.6743C>T (p.Pro2248Leu)
c.5936C>T (p.Pro1979Leu)
c.2237C>T (p.Pro746Leu)
c.6323C>T (p.Pro2108Leu)
c.5687C>T (p.Pro1896Leu)
c.2477C>T (p.Pro826Leu)
5g.177294112C>ACA447961788NSD1c.5871C>A (p.Pro1957=)
c.1386C>A (p.Pro462=)
n.6327C>A
n.1160C>A
c.6435C>A (p.Pro2145=)
n.6141C>A
c.6744C>A (p.Pro2248=)
c.5937C>A (p.Pro1979=)
c.2238C>A (p.Pro746=)
c.6324C>A (p.Pro2108=)
c.5688C>A (p.Pro1896=)
c.2478C>A (p.Pro826=)
5g.177294112C=CA1603535754NSD1c.5871C= (p.Pro1957=)
c.1386C= (p.Pro462=)
n.6327C=
n.1160C=
c.6435C= (p.Pro2145=)
n.6141C=
c.6744C= (p.Pro2248=)
c.5937C= (p.Pro1979=)
c.2238C= (p.Pro746=)
c.6324C= (p.Pro2108=)
c.5688C= (p.Pro1896=)
c.2478C= (p.Pro826=)
5g.177294112C>GCA447961789NSD1c.5871C>G (p.Pro1957=)
c.1386C>G (p.Pro462=)
n.6327C>G
n.1160C>G
c.6435C>G (p.Pro2145=)
n.6141C>G
c.6744C>G (p.Pro2248=)
c.5937C>G (p.Pro1979=)
c.2238C>G (p.Pro746=)
c.6324C>G (p.Pro2108=)
c.5688C>G (p.Pro1896=)
c.2478C>G (p.Pro826=)
5g.177294112C>TCA3578036NSD1c.5871C>T (p.Pro1957=)
c.1386C>T (p.Pro462=)
n.6327C>T
n.1160C>T
c.6435C>T (p.Pro2145=)
n.6141C>T
c.6744C>T (p.Pro2248=)
c.5937C>T (p.Pro1979=)
c.2238C>T (p.Pro746=)
c.6324C>T (p.Pro2108=)
c.5688C>T (p.Pro1896=)
c.2478C>T (p.Pro826=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294113A>CCA362325467NSD1c.5872A>C (p.Lys1958Gln)
c.1387A>C (p.Lys463Gln)
n.6328A>C
n.1161A>C
c.6436A>C (p.Lys2146Gln)
n.6142A>C
c.6745A>C (p.Lys2249Gln)
c.5938A>C (p.Lys1980Gln)
c.2239A>C (p.Lys747Gln)
c.6325A>C (p.Lys2109Gln)
c.5689A>C (p.Lys1897Gln)
c.2479A>C (p.Lys827Gln)
5g.177294113A>GCA362325469NSD1c.5872A>G (p.Lys1958Glu)
c.1387A>G (p.Lys463Glu)
n.6328A>G
n.1161A>G
c.6436A>G (p.Lys2146Glu)
n.6142A>G
c.6745A>G (p.Lys2249Glu)
c.5938A>G (p.Lys1980Glu)
c.2239A>G (p.Lys747Glu)
c.6325A>G (p.Lys2109Glu)
c.5689A>G (p.Lys1897Glu)
c.2479A>G (p.Lys827Glu)
5g.177294113A>TCA362325473NSD1c.5872A>T (p.Lys1958Ter)
c.1387A>T (p.Lys463Ter)
n.6328A>T
n.1161A>T
c.6436A>T (p.Lys2146Ter)
n.6142A>T
c.6745A>T (p.Lys2249Ter)
c.5938A>T (p.Lys1980Ter)
c.2239A>T (p.Lys747Ter)
c.6325A>T (p.Lys2109Ter)
c.5689A>T (p.Lys1897Ter)
c.2479A>T (p.Lys827Ter)
5g.177294116delCA2545917841NSD1c.5875del (p.Met1959CysfsTer?)
c.1390del (p.Met464CysfsTer?)
n.6331del
n.1164del
c.6439del (p.Met2147CysfsTer?)
n.6145del
c.6748del (p.Met2250CysfsTer?)
c.5941del (p.Met1981CysfsTer?)
c.2242del (p.Met748CysfsTer?)
c.6328del (p.Met2110CysfsTer?)
c.5692del (p.Met1898CysfsTer?)
c.2482del (p.Met828CysfsTer?)
5g.177294114A=CA1603535756NSD1c.5873A= (p.Lys1958=)
c.1388A= (p.Lys463=)
n.6329A=
n.1162A=
c.6437A= (p.Lys2146=)
n.6143A=
c.6746A= (p.Lys2249=)
c.5939A= (p.Lys1980=)
c.2240A= (p.Lys747=)
c.6326A= (p.Lys2109=)
c.5690A= (p.Lys1897=)
c.2480A= (p.Lys827=)
5g.177294114A>CCA362325484NSD1c.5873A>C (p.Lys1958Thr)
c.1388A>C (p.Lys463Thr)
n.6329A>C
n.1162A>C
c.6437A>C (p.Lys2146Thr)
n.6143A>C
c.6746A>C (p.Lys2249Thr)
c.5939A>C (p.Lys1980Thr)
c.2240A>C (p.Lys747Thr)
c.6326A>C (p.Lys2109Thr)
c.5690A>C (p.Lys1897Thr)
c.2480A>C (p.Lys827Thr)
5g.177294114A>GCA362325482NSD1c.5873A>G (p.Lys1958Arg)
c.1388A>G (p.Lys463Arg)
n.6329A>G
n.1162A>G
c.6437A>G (p.Lys2146Arg)
n.6143A>G
c.6746A>G (p.Lys2249Arg)
c.5939A>G (p.Lys1980Arg)
c.2240A>G (p.Lys747Arg)
c.6326A>G (p.Lys2109Arg)
c.5690A>G (p.Lys1897Arg)
c.2480A>G (p.Lys827Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.177294114A>TCA362325480NSD1c.5873A>T (p.Lys1958Ile)
c.1388A>T (p.Lys463Ile)
n.6329A>T
n.1162A>T
c.6437A>T (p.Lys2146Ile)
n.6143A>T
c.6746A>T (p.Lys2249Ile)
c.5939A>T (p.Lys1980Ile)
c.2240A>T (p.Lys747Ile)
c.6326A>T (p.Lys2109Ile)
c.5690A>T (p.Lys1897Ile)
c.2480A>T (p.Lys827Ile)
5g.177294115A>CCA362325488NSD1c.5874A>C (p.Lys1958Asn)
c.1389A>C (p.Lys463Asn)
n.6330A>C
n.1163A>C
c.6438A>C (p.Lys2146Asn)
n.6144A>C
c.6747A>C (p.Lys2249Asn)
c.5940A>C (p.Lys1980Asn)
c.2241A>C (p.Lys747Asn)
c.6327A>C (p.Lys2109Asn)
c.5691A>C (p.Lys1897Asn)
c.2481A>C (p.Lys827Asn)
5g.177294115A>GCA447961793NSD1c.5874A>G (p.Lys1958=)
c.1389A>G (p.Lys463=)
n.6330A>G
n.1163A>G
c.6438A>G (p.Lys2146=)
n.6144A>G
c.6747A>G (p.Lys2249=)
c.5940A>G (p.Lys1980=)
c.2241A>G (p.Lys747=)
c.6327A>G (p.Lys2109=)
c.5691A>G (p.Lys1897=)
c.2481A>G (p.Lys827=)
5g.177294115A>TCA362325491NSD1c.5874A>T (p.Lys1958Asn)
c.1389A>T (p.Lys463Asn)
n.6330A>T
n.1163A>T
c.6438A>T (p.Lys2146Asn)
n.6144A>T
c.6747A>T (p.Lys2249Asn)
c.5940A>T (p.Lys1980Asn)
c.2241A>T (p.Lys747Asn)
c.6327A>T (p.Lys2109Asn)
c.5691A>T (p.Lys1897Asn)
c.2481A>T (p.Lys827Asn)
5g.177294116A>CCA362325501NSD1c.5875A>C (p.Met1959Leu)
c.1390A>C (p.Met464Leu)
n.6331A>C
n.1164A>C
c.6439A>C (p.Met2147Leu)
n.6145A>C
c.6748A>C (p.Met2250Leu)
c.5941A>C (p.Met1981Leu)
c.2242A>C (p.Met748Leu)
c.6328A>C (p.Met2110Leu)
c.5692A>C (p.Met1898Leu)
c.2482A>C (p.Met828Leu)
5g.177294116A>GCA362325502NSD1c.5875A>G (p.Met1959Val)
c.1390A>G (p.Met464Val)
n.6331A>G
n.1164A>G
c.6439A>G (p.Met2147Val)
n.6145A>G
c.6748A>G (p.Met2250Val)
c.5941A>G (p.Met1981Val)
c.2242A>G (p.Met748Val)
c.6328A>G (p.Met2110Val)
c.5692A>G (p.Met1898Val)
c.2482A>G (p.Met828Val)
5g.177294116A>TCA362325503NSD1c.5875A>T (p.Met1959Leu)
c.1390A>T (p.Met464Leu)
n.6331A>T
n.1164A>T
c.6439A>T (p.Met2147Leu)
n.6145A>T
c.6748A>T (p.Met2250Leu)
c.5941A>T (p.Met1981Leu)
c.2242A>T (p.Met748Leu)
c.6328A>T (p.Met2110Leu)
c.5692A>T (p.Met1898Leu)
c.2482A>T (p.Met828Leu)
5g.177294117T>ACA362325510NSD1c.5876T>A (p.Met1959Lys)
c.1391T>A (p.Met464Lys)
n.6332T>A
n.1165T>A
c.6440T>A (p.Met2147Lys)
n.6146T>A
c.6749T>A (p.Met2250Lys)
c.5942T>A (p.Met1981Lys)
c.2243T>A (p.Met748Lys)
c.6329T>A (p.Met2110Lys)
c.5693T>A (p.Met1898Lys)
c.2483T>A (p.Met828Lys)
5g.177294117T>CCA362325507NSD1c.5876T>C (p.Met1959Thr)
c.1391T>C (p.Met464Thr)
n.6332T>C
n.1165T>C
c.6440T>C (p.Met2147Thr)
n.6146T>C
c.6749T>C (p.Met2250Thr)
c.5942T>C (p.Met1981Thr)
c.2243T>C (p.Met748Thr)
c.6329T>C (p.Met2110Thr)
c.5693T>C (p.Met1898Thr)
c.2483T>C (p.Met828Thr)
5g.177294117T>GCA362325504NSD1c.5876T>G (p.Met1959Arg)
c.1391T>G (p.Met464Arg)
n.6332T>G
n.1165T>G
c.6440T>G (p.Met2147Arg)
n.6146T>G
c.6749T>G (p.Met2250Arg)
c.5942T>G (p.Met1981Arg)
c.2243T>G (p.Met748Arg)
c.6329T>G (p.Met2110Arg)
c.5693T>G (p.Met1898Arg)
c.2483T>G (p.Met828Arg)
5g.177294118G>ACA149206NSD1c.5877G>A (p.Met1959Ile)
c.1392G>A (p.Met464Ile)
n.6333G>A
n.1166G>A
c.6441G>A (p.Met2147Ile)
n.6147G>A
c.6750G>A (p.Met2250Ile)
c.5943G>A (p.Met1981Ile)
c.2244G>A (p.Met748Ile)
c.6330G>A (p.Met2110Ile)
c.5694G>A (p.Met1898Ile)
c.2484G>A (p.Met828Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294118G>CCA362325521NSD1c.5877G>C (p.Met1959Ile)
c.1392G>C (p.Met464Ile)
n.6333G>C
n.1166G>C
c.6441G>C (p.Met2147Ile)
n.6147G>C
c.6750G>C (p.Met2250Ile)
c.5943G>C (p.Met1981Ile)
c.2244G>C (p.Met748Ile)
c.6330G>C (p.Met2110Ile)
c.5694G>C (p.Met1898Ile)
c.2484G>C (p.Met828Ile)
5g.177294118G=CA1603535764NSD1c.5877G= (p.Met1959=)
c.1392G= (p.Met464=)
n.6333G=
n.1166G=
c.6441G= (p.Met2147=)
n.6147G=
c.6750G= (p.Met2250=)
c.5943G= (p.Met1981=)
c.2244G= (p.Met748=)
c.6330G= (p.Met2110=)
c.5694G= (p.Met1898=)
c.2484G= (p.Met828=)
5g.177294118G>TCA362325523NSD1c.5877G>T (p.Met1959Ile)
c.1392G>T (p.Met464Ile)
n.6333G>T
n.1166G>T
c.6441G>T (p.Met2147Ile)
n.6147G>T
c.6750G>T (p.Met2250Ile)
c.5943G>T (p.Met1981Ile)
c.2244G>T (p.Met748Ile)
c.6330G>T (p.Met2110Ile)
c.5694G>T (p.Met1898Ile)
c.2484G>T (p.Met828Ile)
 dbSNP gnomAD v4
5g.177294119T>ACA362325530NSD1c.5878T>A (p.Ser1960Thr)
c.1393T>A (p.Ser465Thr)
n.6334T>A
n.1167T>A
c.6442T>A (p.Ser2148Thr)
n.6148T>A
c.6751T>A (p.Ser2251Thr)
c.5944T>A (p.Ser1982Thr)
c.2245T>A (p.Ser749Thr)
c.6331T>A (p.Ser2111Thr)
c.5695T>A (p.Ser1899Thr)
c.2485T>A (p.Ser829Thr)
5g.177294119T>CCA362325534NSD1c.5878T>C (p.Ser1960Pro)
c.1393T>C (p.Ser465Pro)
n.6334T>C
n.1167T>C
c.6442T>C (p.Ser2148Pro)
n.6148T>C
c.6751T>C (p.Ser2251Pro)
c.5944T>C (p.Ser1982Pro)
c.2245T>C (p.Ser749Pro)
c.6331T>C (p.Ser2111Pro)
c.5695T>C (p.Ser1899Pro)
c.2485T>C (p.Ser829Pro)
5g.177294119T>GCA362325538NSD1c.5878T>G (p.Ser1960Ala)
c.1393T>G (p.Ser465Ala)
n.6334T>G
n.1167T>G
c.6442T>G (p.Ser2148Ala)
n.6148T>G
c.6751T>G (p.Ser2251Ala)
c.5944T>G (p.Ser1982Ala)
c.2245T>G (p.Ser749Ala)
c.6331T>G (p.Ser2111Ala)
c.5695T>G (p.Ser1899Ala)
c.2485T>G (p.Ser829Ala)
5g.177294120C>ACA362325546NSD1c.5879C>A (p.Ser1960Ter)
c.1394C>A (p.Ser465Ter)
n.6335C>A
n.1168C>A
c.6443C>A (p.Ser2148Ter)
n.6149C>A
c.6752C>A (p.Ser2251Ter)
c.5945C>A (p.Ser1982Ter)
c.2246C>A (p.Ser749Ter)
c.6332C>A (p.Ser2111Ter)
c.5696C>A (p.Ser1899Ter)
c.2486C>A (p.Ser829Ter)
5g.177294120C>GCA362325558NSD1c.5879C>G (p.Ser1960Ter)
c.1394C>G (p.Ser465Ter)
n.6335C>G
n.1168C>G
c.6443C>G (p.Ser2148Ter)
n.6149C>G
c.6752C>G (p.Ser2251Ter)
c.5945C>G (p.Ser1982Ter)
c.2246C>G (p.Ser749Ter)
c.6332C>G (p.Ser2111Ter)
c.5696C>G (p.Ser1899Ter)
c.2486C>G (p.Ser829Ter)
5g.177294120C>TCA362325549NSD1c.5879C>T (p.Ser1960Leu)
c.1394C>T (p.Ser465Leu)
n.6335C>T
n.1168C>T
c.6443C>T (p.Ser2148Leu)
n.6149C>T
c.6752C>T (p.Ser2251Leu)
c.5945C>T (p.Ser1982Leu)
c.2246C>T (p.Ser749Leu)
c.6332C>T (p.Ser2111Leu)
c.5696C>T (p.Ser1899Leu)
c.2486C>T (p.Ser829Leu)
5g.177294121A=CA1603535777NSD1c.5880A= (p.Ser1960=)
c.1395A= (p.Ser465=)
n.6336A=
n.1169A=
c.6444A= (p.Ser2148=)
n.6150A=
c.6753A= (p.Ser2251=)
c.5946A= (p.Ser1982=)
c.2247A= (p.Ser749=)
c.6333A= (p.Ser2111=)
c.5697A= (p.Ser1899=)
c.2487A= (p.Ser829=)
5g.177294121A>CCA447961801NSD1c.5880A>C (p.Ser1960=)
c.1395A>C (p.Ser465=)
n.6336A>C
n.1169A>C
c.6444A>C (p.Ser2148=)
n.6150A>C
c.6753A>C (p.Ser2251=)
c.5946A>C (p.Ser1982=)
c.2247A>C (p.Ser749=)
c.6333A>C (p.Ser2111=)
c.5697A>C (p.Ser1899=)
c.2487A>C (p.Ser829=)
5g.177294121A>GCA295120NSD1c.5880A>G (p.Ser1960=)
c.1395A>G (p.Ser465=)
n.6336A>G
n.1169A>G
c.6444A>G (p.Ser2148=)
n.6150A>G
c.6753A>G (p.Ser2251=)
c.5946A>G (p.Ser1982=)
c.2247A>G (p.Ser749=)
c.6333A>G (p.Ser2111=)
c.5697A>G (p.Ser1899=)
c.2487A>G (p.Ser829=)
 ClinVar dbSNP
5g.177294121A>TCA447961804NSD1c.5880A>T (p.Ser1960=)
c.1395A>T (p.Ser465=)
n.6336A>T
n.1169A>T
c.6444A>T (p.Ser2148=)
n.6150A>T
c.6753A>T (p.Ser2251=)
c.5946A>T (p.Ser1982=)
c.2247A>T (p.Ser749=)
c.6333A>T (p.Ser2111=)
c.5697A>T (p.Ser1899=)
c.2487A>T (p.Ser829=)
5g.177294122G>ACA362325569NSD1c.5881G>A (p.Asp1961Asn)
c.1396G>A (p.Asp466Asn)
n.6337G>A
n.1170G>A
c.6445G>A (p.Asp2149Asn)
n.6151G>A
c.6754G>A (p.Asp2252Asn)
c.5947G>A (p.Asp1983Asn)
c.2248G>A (p.Asp750Asn)
c.6334G>A (p.Asp2112Asn)
c.5698G>A (p.Asp1900Asn)
c.2488G>A (p.Asp830Asn)
5g.177294122G>CCA362325574NSD1c.5881G>C (p.Asp1961His)
c.1396G>C (p.Asp466His)
n.6337G>C
n.1170G>C
c.6445G>C (p.Asp2149His)
n.6151G>C
c.6754G>C (p.Asp2252His)
c.5947G>C (p.Asp1983His)
c.2248G>C (p.Asp750His)
c.6334G>C (p.Asp2112His)
c.5698G>C (p.Asp1900His)
c.2488G>C (p.Asp830His)
5g.177294122G>TCA362325578NSD1c.5881G>T (p.Asp1961Tyr)
c.1396G>T (p.Asp466Tyr)
n.6337G>T
n.1170G>T
c.6445G>T (p.Asp2149Tyr)
n.6151G>T
c.6754G>T (p.Asp2252Tyr)
c.5947G>T (p.Asp1983Tyr)
c.2248G>T (p.Asp750Tyr)
c.6334G>T (p.Asp2112Tyr)
c.5698G>T (p.Asp1900Tyr)
c.2488G>T (p.Asp830Tyr)
5g.177294123A>CCA362325583NSD1c.5882A>C (p.Asp1961Ala)
c.1397A>C (p.Asp466Ala)
n.6338A>C
n.1171A>C
c.6446A>C (p.Asp2149Ala)
n.6152A>C
c.6755A>C (p.Asp2252Ala)
c.5948A>C (p.Asp1983Ala)
c.2249A>C (p.Asp750Ala)
c.6335A>C (p.Asp2112Ala)
c.5699A>C (p.Asp1900Ala)
c.2489A>C (p.Asp830Ala)
5g.177294123A>GCA362325585NSD1c.5882A>G (p.Asp1961Gly)
c.1397A>G (p.Asp466Gly)
n.6338A>G
n.1171A>G
c.6446A>G (p.Asp2149Gly)
n.6152A>G
c.6755A>G (p.Asp2252Gly)
c.5948A>G (p.Asp1983Gly)
c.2249A>G (p.Asp750Gly)
c.6335A>G (p.Asp2112Gly)
c.5699A>G (p.Asp1900Gly)
c.2489A>G (p.Asp830Gly)
5g.177294123A>TCA362325590NSD1c.5882A>T (p.Asp1961Val)
c.1397A>T (p.Asp466Val)
n.6338A>T
n.1171A>T
c.6446A>T (p.Asp2149Val)
n.6152A>T
c.6755A>T (p.Asp2252Val)
c.5948A>T (p.Asp1983Val)
c.2249A>T (p.Asp750Val)
c.6335A>T (p.Asp2112Val)
c.5699A>T (p.Asp1900Val)
c.2489A>T (p.Asp830Val)
5g.177294124T>ACA362325594NSD1c.5883T>A (p.Asp1961Glu)
c.1398T>A (p.Asp466Glu)
n.6339T>A
n.1172T>A
c.6447T>A (p.Asp2149Glu)
n.6153T>A
c.6756T>A (p.Asp2252Glu)
c.5949T>A (p.Asp1983Glu)
c.2250T>A (p.Asp750Glu)
c.6336T>A (p.Asp2112Glu)
c.5700T>A (p.Asp1900Glu)
c.2490T>A (p.Asp830Glu)
5g.177294124T>CCA447961808NSD1c.5883T>C (p.Asp1961=)
c.1398T>C (p.Asp466=)
n.6339T>C
n.1172T>C
c.6447T>C (p.Asp2149=)
n.6153T>C
c.6756T>C (p.Asp2252=)
c.5949T>C (p.Asp1983=)
c.2250T>C (p.Asp750=)
c.6336T>C (p.Asp2112=)
c.5700T>C (p.Asp1900=)
c.2490T>C (p.Asp830=)
5g.177294124T>GCA362325598NSD1c.5883T>G (p.Asp1961Glu)
c.1398T>G (p.Asp466Glu)
n.6339T>G
n.1172T>G
c.6447T>G (p.Asp2149Glu)
n.6153T>G
c.6756T>G (p.Asp2252Glu)
c.5949T>G (p.Asp1983Glu)
c.2250T>G (p.Asp750Glu)
c.6336T>G (p.Asp2112Glu)
c.5700T>G (p.Asp1900Glu)
c.2490T>G (p.Asp830Glu)
5g.177294125A>CCA362325602NSD1c.5884A>C (p.Lys1962Gln)
c.1399A>C (p.Lys467Gln)
n.6340A>C
n.1173A>C
c.6448A>C (p.Lys2150Gln)
n.6154A>C
c.6757A>C (p.Lys2253Gln)
c.5950A>C (p.Lys1984Gln)
c.2251A>C (p.Lys751Gln)
c.6337A>C (p.Lys2113Gln)
c.5701A>C (p.Lys1901Gln)
c.2491A>C (p.Lys831Gln)
 gnomAD v4
5g.177294125A>GCA362325605NSD1c.5884A>G (p.Lys1962Glu)
c.1399A>G (p.Lys467Glu)
n.6340A>G
n.1173A>G
c.6448A>G (p.Lys2150Glu)
n.6154A>G
c.6757A>G (p.Lys2253Glu)
c.5950A>G (p.Lys1984Glu)
c.2251A>G (p.Lys751Glu)
c.6337A>G (p.Lys2113Glu)
c.5701A>G (p.Lys1901Glu)
c.2491A>G (p.Lys831Glu)
5g.177294125A>TCA362325611NSD1c.5884A>T (p.Lys1962Ter)
c.1399A>T (p.Lys467Ter)
n.6340A>T
n.1173A>T
c.6448A>T (p.Lys2150Ter)
n.6154A>T
c.6757A>T (p.Lys2253Ter)
c.5950A>T (p.Lys1984Ter)
c.2251A>T (p.Lys751Ter)
c.6337A>T (p.Lys2113Ter)
c.5701A>T (p.Lys1901Ter)
c.2491A>T (p.Lys831Ter)
5g.177294126A>CCA362325628NSD1c.5885A>C (p.Lys1962Thr)
c.1400A>C (p.Lys467Thr)
n.6341A>C
n.1174A>C
c.6449A>C (p.Lys2150Thr)
n.6155A>C
c.6758A>C (p.Lys2253Thr)
c.5951A>C (p.Lys1984Thr)
c.2252A>C (p.Lys751Thr)
c.6338A>C (p.Lys2113Thr)
c.5702A>C (p.Lys1901Thr)
c.2492A>C (p.Lys831Thr)
5g.177294126A>GCA362325620NSD1c.5885A>G (p.Lys1962Arg)
c.1400A>G (p.Lys467Arg)
n.6341A>G
n.1174A>G
c.6449A>G (p.Lys2150Arg)
n.6155A>G
c.6758A>G (p.Lys2253Arg)
c.5951A>G (p.Lys1984Arg)
c.2252A>G (p.Lys751Arg)
c.6338A>G (p.Lys2113Arg)
c.5702A>G (p.Lys1901Arg)
c.2492A>G (p.Lys831Arg)
5g.177294126A>TCA362325617NSD1c.5885A>T (p.Lys1962Ile)
c.1400A>T (p.Lys467Ile)
n.6341A>T
n.1174A>T
c.6449A>T (p.Lys2150Ile)
n.6155A>T
c.6758A>T (p.Lys2253Ile)
c.5951A>T (p.Lys1984Ile)
c.2252A>T (p.Lys751Ile)
c.6338A>T (p.Lys2113Ile)
c.5702A>T (p.Lys1901Ile)
c.2492A>T (p.Lys831Ile)
5g.177294127A=CA1603535783NSD1c.5886A= (p.Lys1962=)
c.1401A= (p.Lys467=)
n.6342A=
n.1175A=
c.6450A= (p.Lys2150=)
n.6156A=
c.6759A= (p.Lys2253=)
c.5952A= (p.Lys1984=)
c.2253A= (p.Lys751=)
c.6339A= (p.Lys2113=)
c.5703A= (p.Lys1901=)
c.2493A= (p.Lys831=)
5g.177294127A>CCA362325634NSD1c.5886A>C (p.Lys1962Asn)
c.1401A>C (p.Lys467Asn)
n.6342A>C
n.1175A>C
c.6450A>C (p.Lys2150Asn)
n.6156A>C
c.6759A>C (p.Lys2253Asn)
c.5952A>C (p.Lys1984Asn)
c.2253A>C (p.Lys751Asn)
c.6339A>C (p.Lys2113Asn)
c.5703A>C (p.Lys1901Asn)
c.2493A>C (p.Lys831Asn)
 dbSNP
5g.177294127A>GCA447961813NSD1c.5886A>G (p.Lys1962=)
c.1401A>G (p.Lys467=)
n.6342A>G
n.1175A>G
c.6450A>G (p.Lys2150=)
n.6156A>G
c.6759A>G (p.Lys2253=)
c.5952A>G (p.Lys1984=)
c.2253A>G (p.Lys751=)
c.6339A>G (p.Lys2113=)
c.5703A>G (p.Lys1901=)
c.2493A>G (p.Lys831=)
5g.177294127A>TCA3578037NSD1c.5886A>T (p.Lys1962Asn)
c.1401A>T (p.Lys467Asn)
n.6342A>T
n.1175A>T
c.6450A>T (p.Lys2150Asn)
n.6156A>T
c.6759A>T (p.Lys2253Asn)
c.5952A>T (p.Lys1984Asn)
c.2253A>T (p.Lys751Asn)
c.6339A>T (p.Lys2113Asn)
c.5703A>T (p.Lys1901Asn)
c.2493A>T (p.Lys831Asn)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.177294128C>ACA362325640NSD1c.5887C>A (p.Pro1963Thr)
c.1402C>A (p.Pro468Thr)
n.6343C>A
n.1176C>A
c.6451C>A (p.Pro2151Thr)
n.6157C>A
c.6760C>A (p.Pro2254Thr)
c.5953C>A (p.Pro1985Thr)
c.2254C>A (p.Pro752Thr)
c.6340C>A (p.Pro2114Thr)
c.5704C>A (p.Pro1902Thr)
c.2494C>A (p.Pro832Thr)
5g.177294128C>GCA362325643NSD1c.5887C>G (p.Pro1963Ala)
c.1402C>G (p.Pro468Ala)
n.6343C>G
n.1176C>G
c.6451C>G (p.Pro2151Ala)
n.6157C>G
c.6760C>G (p.Pro2254Ala)
c.5953C>G (p.Pro1985Ala)
c.2254C>G (p.Pro752Ala)
c.6340C>G (p.Pro2114Ala)
c.5704C>G (p.Pro1902Ala)
c.2494C>G (p.Pro832Ala)
5g.177294128C>TCA362325647NSD1c.5887C>T (p.Pro1963Ser)
c.1402C>T (p.Pro468Ser)
n.6343C>T
n.1176C>T
c.6451C>T (p.Pro2151Ser)
n.6157C>T
c.6760C>T (p.Pro2254Ser)
c.5953C>T (p.Pro1985Ser)
c.2254C>T (p.Pro752Ser)
c.6340C>T (p.Pro2114Ser)
c.5704C>T (p.Pro1902Ser)
c.2494C>T (p.Pro832Ser)
5g.177294131_177294133delCA2580614807NSD1c.5890_5892del (p.Pro1964del)
c.1405_1407del (p.Pro469del)
n.6346_6348del
n.1179_1181del
c.6454_6456del (p.Pro2152del)
n.6160_6162del
c.6763_6765del (p.Pro2255del)
c.5956_5958del (p.Pro1986del)
c.2257_2259del (p.Pro753del)
c.6343_6345del (p.Pro2115del)
c.5707_5709del (p.Pro1903del)
c.2497_2499del (p.Pro833del)
 ClinVar
5g.177294129C>ACA362325653NSD1c.5888C>A (p.Pro1963His)
c.1403C>A (p.Pro468His)
n.6344C>A
n.1177C>A
c.6452C>A (p.Pro2151His)
n.6158C>A
c.6761C>A (p.Pro2254His)
c.5954C>A (p.Pro1985His)
c.2255C>A (p.Pro752His)
c.6341C>A (p.Pro2114His)
c.5705C>A (p.Pro1902His)
c.2495C>A (p.Pro832His)
 gnomAD v4
5g.177294129C=CA1603535787NSD1c.5888C= (p.Pro1963=)
c.1403C= (p.Pro468=)
n.6344C=
n.1177C=
c.6452C= (p.Pro2151=)
n.6158C=
c.6761C= (p.Pro2254=)
c.5954C= (p.Pro1985=)
c.2255C= (p.Pro752=)
c.6341C= (p.Pro2114=)
c.5705C= (p.Pro1902=)
c.2495C= (p.Pro832=)
5g.177294129C>GCA362325656NSD1c.5888C>G (p.Pro1963Arg)
c.1403C>G (p.Pro468Arg)
n.6344C>G
n.1177C>G
c.6452C>G (p.Pro2151Arg)
n.6158C>G
c.6761C>G (p.Pro2254Arg)
c.5954C>G (p.Pro1985Arg)
c.2255C>G (p.Pro752Arg)
c.6341C>G (p.Pro2114Arg)
c.5705C>G (p.Pro1902Arg)
c.2495C>G (p.Pro832Arg)
5g.177294129C>TCA362325658NSD1c.5888C>T (p.Pro1963Leu)
c.1403C>T (p.Pro468Leu)
n.6344C>T
n.1177C>T
c.6452C>T (p.Pro2151Leu)
n.6158C>T
c.6761C>T (p.Pro2254Leu)
c.5954C>T (p.Pro1985Leu)
c.2255C>T (p.Pro752Leu)
c.6341C>T (p.Pro2114Leu)
c.5705C>T (p.Pro1902Leu)
c.2495C>T (p.Pro832Leu)
 dbSNP gnomAD v3 gnomAD v4
5g.177294130T>ACA447961816NSD1c.5889T>A (p.Pro1963=)
c.1404T>A (p.Pro468=)
n.6345T>A
n.1178T>A
c.6453T>A (p.Pro2151=)
n.6159T>A
c.6762T>A (p.Pro2254=)
c.5955T>A (p.Pro1985=)
c.2256T>A (p.Pro752=)
c.6342T>A (p.Pro2114=)
c.5706T>A (p.Pro1902=)
c.2496T>A (p.Pro832=)
5g.177294130T>CCA447961817NSD1c.5889T>C (p.Pro1963=)
c.1404T>C (p.Pro468=)
n.6345T>C
n.1178T>C
c.6453T>C (p.Pro2151=)
n.6159T>C
c.6762T>C (p.Pro2254=)
c.5955T>C (p.Pro1985=)
c.2256T>C (p.Pro752=)
c.6342T>C (p.Pro2114=)
c.5706T>C (p.Pro1902=)
c.2496T>C (p.Pro832=)
5g.177294130T>GCA447961818NSD1c.5889T>G (p.Pro1963=)
c.1404T>G (p.Pro468=)
n.6345T>G
n.1178T>G
c.6453T>G (p.Pro2151=)
n.6159T>G
c.6762T>G (p.Pro2254=)
c.5955T>G (p.Pro1985=)
c.2256T>G (p.Pro752=)
c.6342T>G (p.Pro2114=)
c.5706T>G (p.Pro1902=)
c.2496T>G (p.Pro832=)
5g.177294131C>ACA362325662NSD1c.5890C>A (p.Pro1964Thr)
c.1405C>A (p.Pro469Thr)
n.6346C>A
n.1179C>A
c.6454C>A (p.Pro2152Thr)
n.6160C>A
c.6763C>A (p.Pro2255Thr)
c.5956C>A (p.Pro1986Thr)
c.2257C>A (p.Pro753Thr)
c.6343C>A (p.Pro2115Thr)
c.5707C>A (p.Pro1903Thr)
c.2497C>A (p.Pro833Thr)
5g.177294131C>GCA362325669NSD1c.5890C>G (p.Pro1964Ala)
c.1405C>G (p.Pro469Ala)
n.6346C>G
n.1179C>G
c.6454C>G (p.Pro2152Ala)
n.6160C>G
c.6763C>G (p.Pro2255Ala)
c.5956C>G (p.Pro1986Ala)
c.2257C>G (p.Pro753Ala)
c.6343C>G (p.Pro2115Ala)
c.5707C>G (p.Pro1903Ala)
c.2497C>G (p.Pro833Ala)
 gnomAD v4
5g.177294131C>TCA362325672NSD1c.5890C>T (p.Pro1964Ser)
c.1405C>T (p.Pro469Ser)
n.6346C>T
n.1179C>T
c.6454C>T (p.Pro2152Ser)
n.6160C>T
c.6763C>T (p.Pro2255Ser)
c.5956C>T (p.Pro1986Ser)
c.2257C>T (p.Pro753Ser)
c.6343C>T (p.Pro2115Ser)
c.5707C>T (p.Pro1903Ser)
c.2497C>T (p.Pro833Ser)
5g.177294132C>ACA362325675NSD1c.5891C>A (p.Pro1964His)
c.1406C>A (p.Pro469His)
n.6347C>A
n.1180C>A
c.6455C>A (p.Pro2152His)
n.6161C>A
c.6764C>A (p.Pro2255His)
c.5957C>A (p.Pro1986His)
c.2258C>A (p.Pro753His)
c.6344C>A (p.Pro2115His)
c.5708C>A (p.Pro1903His)
c.2498C>A (p.Pro833His)
5g.177294132C>GCA362325678NSD1c.5891C>G (p.Pro1964Arg)
c.1406C>G (p.Pro469Arg)
n.6347C>G
n.1180C>G
c.6455C>G (p.Pro2152Arg)
n.6161C>G
c.6764C>G (p.Pro2255Arg)
c.5957C>G (p.Pro1986Arg)
c.2258C>G (p.Pro753Arg)
c.6344C>G (p.Pro2115Arg)
c.5708C>G (p.Pro1903Arg)
c.2498C>G (p.Pro833Arg)
5g.177294132C>TCA362325684NSD1c.5891C>T (p.Pro1964Leu)
c.1406C>T (p.Pro469Leu)
n.6347C>T
n.1180C>T
c.6455C>T (p.Pro2152Leu)
n.6161C>T
c.6764C>T (p.Pro2255Leu)
c.5957C>T (p.Pro1986Leu)
c.2258C>T (p.Pro753Leu)
c.6344C>T (p.Pro2115Leu)
c.5708C>T (p.Pro1903Leu)
c.2498C>T (p.Pro833Leu)
5g.177294133T>ACA447961822NSD1c.5892T>A (p.Pro1964=)
c.1407T>A (p.Pro469=)
n.6348T>A
n.1181T>A
c.6456T>A (p.Pro2152=)
n.6162T>A
c.6765T>A (p.Pro2255=)
c.5958T>A (p.Pro1986=)
c.2259T>A (p.Pro753=)
c.6345T>A (p.Pro2115=)
c.5709T>A (p.Pro1903=)
c.2499T>A (p.Pro833=)
5g.177294133T>CCA3578038NSD1c.5892T>C (p.Pro1964=)
c.1407T>C (p.Pro469=)
n.6348T>C
n.1181T>C
c.6456T>C (p.Pro2152=)
n.6162T>C
c.6765T>C (p.Pro2255=)
c.5958T>C (p.Pro1986=)
c.2259T>C (p.Pro753=)
c.6345T>C (p.Pro2115=)
c.5709T>C (p.Pro1903=)
c.2499T>C (p.Pro833=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177294133T>GCA447961824NSD1c.5892T>G (p.Pro1964=)
c.1407T>G (p.Pro469=)
n.6348T>G
n.1181T>G
c.6456T>G (p.Pro2152=)
n.6162T>G
c.6765T>G (p.Pro2255=)
c.5958T>G (p.Pro1986=)
c.2259T>G (p.Pro753=)
c.6345T>G (p.Pro2115=)
c.5709T>G (p.Pro1903=)
c.2499T>G (p.Pro833=)
5g.177294133T=CA1603535790NSD1c.5892T= (p.Pro1964=)
c.1407T= (p.Pro469=)
n.6348T=
n.1181T=
c.6456T= (p.Pro2152=)
n.6162T=
c.6765T= (p.Pro2255=)
c.5958T= (p.Pro1986=)
c.2259T= (p.Pro753=)
c.6345T= (p.Pro2115=)
c.5709T= (p.Pro1903=)
c.2499T= (p.Pro833=)
5g.177294134G>ACA362325693NSD1c.5893G>A (p.Ala1965Thr)
c.1408G>A (p.Ala470Thr)
n.6349G>A
n.1182G>A
c.6457G>A (p.Ala2153Thr)
n.6163G>A
c.6766G>A (p.Ala2256Thr)
c.5959G>A (p.Ala1987Thr)
c.2260G>A (p.Ala754Thr)
c.6346G>A (p.Ala2116Thr)
c.5710G>A (p.Ala1904Thr)
c.2500G>A (p.Ala834Thr)
5g.177294134G>CCA362325701NSD1c.5893G>C (p.Ala1965Pro)
c.1408G>C (p.Ala470Pro)
n.6349G>C
n.1182G>C
c.6457G>C (p.Ala2153Pro)
n.6163G>C
c.6766G>C (p.Ala2256Pro)
c.5959G>C (p.Ala1987Pro)
c.2260G>C (p.Ala754Pro)
c.6346G>C (p.Ala2116Pro)
c.5710G>C (p.Ala1904Pro)
c.2500G>C (p.Ala834Pro)
5g.177294134G>TCA362325697NSD1c.5893G>T (p.Ala1965Ser)
c.1408G>T (p.Ala470Ser)
n.6349G>T
n.1182G>T
c.6457G>T (p.Ala2153Ser)
n.6163G>T
c.6766G>T (p.Ala2256Ser)
c.5959G>T (p.Ala1987Ser)
c.2260G>T (p.Ala754Ser)
c.6346G>T (p.Ala2116Ser)
c.5710G>T (p.Ala1904Ser)
c.2500G>T (p.Ala834Ser)
5g.177294135C>ACA362325705NSD1c.5894C>A (p.Ala1965Asp)
c.1409C>A (p.Ala470Asp)
n.6350C>A
n.1183C>A
c.6458C>A (p.Ala2153Asp)
n.6164C>A
c.6767C>A (p.Ala2256Asp)
c.5960C>A (p.Ala1987Asp)
c.2261C>A (p.Ala754Asp)
c.6347C>A (p.Ala2116Asp)
c.5711C>A (p.Ala1904Asp)
c.2501C>A (p.Ala834Asp)
 dbSNP
5g.177294135C>GCA362325714NSD1c.5894C>G (p.Ala1965Gly)
c.1409C>G (p.Ala470Gly)
n.6350C>G
n.1183C>G
c.6458C>G (p.Ala2153Gly)
n.6164C>G
c.6767C>G (p.Ala2256Gly)
c.5960C>G (p.Ala1987Gly)
c.2261C>G (p.Ala754Gly)
c.6347C>G (p.Ala2116Gly)
c.5711C>G (p.Ala1904Gly)
c.2501C>G (p.Ala834Gly)
 ClinVar dbSNP
5g.177294135C>TCA362325717NSD1c.5894C>T (p.Ala1965Val)
c.1409C>T (p.Ala470Val)
n.6350C>T
n.1183C>T
c.6458C>T (p.Ala2153Val)
n.6164C>T
c.6767C>T (p.Ala2256Val)
c.5960C>T (p.Ala1987Val)
c.2261C>T (p.Ala754Val)
c.6347C>T (p.Ala2116Val)
c.5711C>T (p.Ala1904Val)
c.2501C>T (p.Ala834Val)
 dbSNP
5g.177294136T>ACA447961826NSD1c.5895T>A (p.Ala1965=)
c.1410T>A (p.Ala470=)
n.6351T>A
n.1184T>A
c.6459T>A (p.Ala2153=)
n.6165T>A
c.6768T>A (p.Ala2256=)
c.5961T>A (p.Ala1987=)
c.2262T>A (p.Ala754=)
c.6348T>A (p.Ala2116=)
c.5712T>A (p.Ala1904=)
c.2502T>A (p.Ala834=)
5g.177294136T>CCA447961827NSD1c.5895T>C (p.Ala1965=)
c.1410T>C (p.Ala470=)
n.6351T>C
n.1184T>C
c.6459T>C (p.Ala2153=)
n.6165T>C
c.6768T>C (p.Ala2256=)
c.5961T>C (p.Ala1987=)
c.2262T>C (p.Ala754=)
c.6348T>C (p.Ala2116=)
c.5712T>C (p.Ala1904=)
c.2502T>C (p.Ala834=)
5g.177294136T>GCA447961829NSD1c.5895T>G (p.Ala1965=)
c.1410T>G (p.Ala470=)
n.6351T>G
n.1184T>G
c.6459T>G (p.Ala2153=)
n.6165T>G
c.6768T>G (p.Ala2256=)
c.5961T>G (p.Ala1987=)
c.2262T>G (p.Ala754=)
c.6348T>G (p.Ala2116=)
c.5712T>G (p.Ala1904=)
c.2502T>G (p.Ala834=)
5g.177294137G>ACA362325723NSD1c.5896G>A (p.Asp1966Asn)
c.1411G>A (p.Asp471Asn)
n.6352G>A
n.1185G>A
c.6460G>A (p.Asp2154Asn)
n.6166G>A
c.6769G>A (p.Asp2257Asn)
c.5962G>A (p.Asp1988Asn)
c.2263G>A (p.Asp755Asn)
c.6349G>A (p.Asp2117Asn)
c.5713G>A (p.Asp1905Asn)
c.2503G>A (p.Asp835Asn)
5g.177294137G>CCA362325724NSD1c.5896G>C (p.Asp1966His)
c.1411G>C (p.Asp471His)
n.6352G>C
n.1185G>C
c.6460G>C (p.Asp2154His)
n.6166G>C
c.6769G>C (p.Asp2257His)
c.5962G>C (p.Asp1988His)
c.2263G>C (p.Asp755His)
c.6349G>C (p.Asp2117His)
c.5713G>C (p.Asp1905His)
c.2503G>C (p.Asp835His)
5g.177294137G>TCA362325728NSD1c.5896G>T (p.Asp1966Tyr)
c.1411G>T (p.Asp471Tyr)
n.6352G>T
n.1185G>T
c.6460G>T (p.Asp2154Tyr)
n.6166G>T
c.6769G>T (p.Asp2257Tyr)
c.5962G>T (p.Asp1988Tyr)
c.2263G>T (p.Asp755Tyr)
c.6349G>T (p.Asp2117Tyr)
c.5713G>T (p.Asp1905Tyr)
c.2503G>T (p.Asp835Tyr)
 gnomAD v4
5g.177294138A=CA1603535791NSD1c.5897A= (p.Asp1966=)
c.1412A= (p.Asp471=)
n.6353A=
n.1186A=
c.6461A= (p.Asp2154=)
n.6167A=
c.6770A= (p.Asp2257=)
c.5963A= (p.Asp1988=)
c.2264A= (p.Asp755=)
c.6350A= (p.Asp2117=)
c.5714A= (p.Asp1905=)
c.2504A= (p.Asp835=)
5g.177294138A>CCA362325734NSD1c.5897A>C (p.Asp1966Ala)
c.1412A>C (p.Asp471Ala)
n.6353A>C
n.1186A>C
c.6461A>C (p.Asp2154Ala)
n.6167A>C
c.6770A>C (p.Asp2257Ala)
c.5963A>C (p.Asp1988Ala)
c.2264A>C (p.Asp755Ala)
c.6350A>C (p.Asp2117Ala)
c.5714A>C (p.Asp1905Ala)
c.2504A>C (p.Asp835Ala)
5g.177294138A>GCA362325738NSD1c.5897A>G (p.Asp1966Gly)
c.1412A>G (p.Asp471Gly)
n.6353A>G
n.1186A>G
c.6461A>G (p.Asp2154Gly)
n.6167A>G
c.6770A>G (p.Asp2257Gly)
c.5963A>G (p.Asp1988Gly)
c.2264A>G (p.Asp755Gly)
c.6350A>G (p.Asp2117Gly)
c.5714A>G (p.Asp1905Gly)
c.2504A>G (p.Asp835Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.177294138A>TCA362325743NSD1c.5897A>T (p.Asp1966Val)
c.1412A>T (p.Asp471Val)
n.6353A>T
n.1186A>T
c.6461A>T (p.Asp2154Val)
n.6167A>T
c.6770A>T (p.Asp2257Val)
c.5963A>T (p.Asp1988Val)
c.2264A>T (p.Asp755Val)
c.6350A>T (p.Asp2117Val)
c.5714A>T (p.Asp1905Val)
c.2504A>T (p.Asp835Val)
 dbSNP
5g.177294139C>ACA362325746NSD1c.5898C>A (p.Asp1966Glu)
c.1413C>A (p.Asp471Glu)
n.6354C>A
n.1187C>A
c.6462C>A (p.Asp2154Glu)
n.6168C>A
c.6771C>A (p.Asp2257Glu)
c.5964C>A (p.Asp1988Glu)
c.2265C>A (p.Asp755Glu)
c.6351C>A (p.Asp2117Glu)
c.5715C>A (p.Asp1905Glu)
c.2505C>A (p.Asp835Glu)
5g.177294139C>GCA362325750NSD1c.5898C>G (p.Asp1966Glu)
c.1413C>G (p.Asp471Glu)
n.6354C>G
n.1187C>G
c.6462C>G (p.Asp2154Glu)
n.6168C>G
c.6771C>G (p.Asp2257Glu)
c.5964C>G (p.Asp1988Glu)
c.2265C>G (p.Asp755Glu)
c.6351C>G (p.Asp2117Glu)
c.5715C>G (p.Asp1905Glu)
c.2505C>G (p.Asp835Glu)
5g.177294139C>TCA447961833NSD1c.5898C>T (p.Asp1966=)
c.1413C>T (p.Asp471=)
n.6354C>T
n.1187C>T
c.6462C>T (p.Asp2154=)
n.6168C>T
c.6771C>T (p.Asp2257=)
c.5964C>T (p.Asp1988=)
c.2265C>T (p.Asp755=)
c.6351C>T (p.Asp2117=)
c.5715C>T (p.Asp1905=)
c.2505C>T (p.Asp835=)
5g.177294140A>CCA362325760NSD1c.5899A>C (p.Thr1967Pro)
c.1414A>C (p.Thr472Pro)
n.6355A>C
n.1188A>C
c.6463A>C (p.Thr2155Pro)
n.6169A>C
c.6772A>C (p.Thr2258Pro)
c.5965A>C (p.Thr1989Pro)
c.2266A>C (p.Thr756Pro)
c.6352A>C (p.Thr2118Pro)
c.5716A>C (p.Thr1906Pro)
c.2506A>C (p.Thr836Pro)
 gnomAD v4
5g.177294140A>GCA362325758NSD1c.5899A>G (p.Thr1967Ala)
c.1414A>G (p.Thr472Ala)
n.6355A>G
n.1188A>G
c.6463A>G (p.Thr2155Ala)
n.6169A>G
c.6772A>G (p.Thr2258Ala)
c.5965A>G (p.Thr1989Ala)
c.2266A>G (p.Thr756Ala)
c.6352A>G (p.Thr2118Ala)
c.5716A>G (p.Thr1906Ala)
c.2506A>G (p.Thr836Ala)
5g.177294140A>TCA362325754NSD1c.5899A>T (p.Thr1967Ser)
c.1414A>T (p.Thr472Ser)
n.6355A>T
n.1188A>T
c.6463A>T (p.Thr2155Ser)
n.6169A>T
c.6772A>T (p.Thr2258Ser)
c.5965A>T (p.Thr1989Ser)
c.2266A>T (p.Thr756Ser)
c.6352A>T (p.Thr2118Ser)
c.5716A>T (p.Thr1906Ser)
c.2506A>T (p.Thr836Ser)
5g.177294141C>ACA362325769NSD1c.5900C>A (p.Thr1967Asn)
c.1415C>A (p.Thr472Asn)
n.6356C>A
n.1189C>A
c.6464C>A (p.Thr2155Asn)
n.6170C>A
c.6773C>A (p.Thr2258Asn)
c.5966C>A (p.Thr1989Asn)
c.2267C>A (p.Thr756Asn)
c.6353C>A (p.Thr2118Asn)
c.5717C>A (p.Thr1906Asn)
c.2507C>A (p.Thr836Asn)
5g.177294141C>GCA362325764NSD1c.5900C>G (p.Thr1967Ser)
c.1415C>G (p.Thr472Ser)
n.6356C>G
n.1189C>G
c.6464C>G (p.Thr2155Ser)
n.6170C>G
c.6773C>G (p.Thr2258Ser)
c.5966C>G (p.Thr1989Ser)
c.2267C>G (p.Thr756Ser)
c.6353C>G (p.Thr2118Ser)
c.5717C>G (p.Thr1906Ser)
c.2507C>G (p.Thr836Ser)
5g.177294141C>TCA362325767NSD1c.5900C>T (p.Thr1967Ile)
c.1415C>T (p.Thr472Ile)
n.6356C>T
n.1189C>T
c.6464C>T (p.Thr2155Ile)
n.6170C>T
c.6773C>T (p.Thr2258Ile)
c.5966C>T (p.Thr1989Ile)
c.2267C>T (p.Thr756Ile)
c.6353C>T (p.Thr2118Ile)
c.5717C>T (p.Thr1906Ile)
c.2507C>T (p.Thr836Ile)
5g.177294142C>ACA447961840NSD1c.5901C>A (p.Thr1967=)
c.1416C>A (p.Thr472=)
n.6357C>A
n.1190C>A
c.6465C>A (p.Thr2155=)
n.6171C>A
c.6774C>A (p.Thr2258=)
c.5967C>A (p.Thr1989=)
c.2268C>A (p.Thr756=)
c.6354C>A (p.Thr2118=)
c.5718C>A (p.Thr1906=)
c.2508C>A (p.Thr836=)
 gnomAD v4
5g.177294142C>GCA447961837NSD1c.5901C>G (p.Thr1967=)
c.1416C>G (p.Thr472=)
n.6357C>G
n.1190C>G
c.6465C>G (p.Thr2155=)
n.6171C>G
c.6774C>G (p.Thr2258=)
c.5967C>G (p.Thr1989=)
c.2268C>G (p.Thr756=)
c.6354C>G (p.Thr2118=)
c.5718C>G (p.Thr1906=)
c.2508C>G (p.Thr836=)
5g.177294142C>TCA447961838NSD1c.5901C>T (p.Thr1967=)
c.1416C>T (p.Thr472=)
n.6357C>T
n.1190C>T
c.6465C>T (p.Thr2155=)
n.6171C>T
c.6774C>T (p.Thr2258=)
c.5967C>T (p.Thr1989=)
c.2268C>T (p.Thr756=)
c.6354C>T (p.Thr2118=)
c.5718C>T (p.Thr1906=)
c.2508C>T (p.Thr836=)
 dbSNP
5g.177294143A>CCA362325774NSD1c.5902A>C (p.Asn1968His)
c.1417A>C (p.Asn473His)
n.6358A>C
n.1191A>C
c.6466A>C (p.Asn2156His)
n.6172A>C
c.6775A>C (p.Asn2259His)
c.5968A>C (p.Asn1990His)
c.2269A>C (p.Asn757His)
c.6355A>C (p.Asn2119His)
c.5719A>C (p.Asn1907His)
c.2509A>C (p.Asn837His)
5g.177294143A>GCA362325779NSD1c.5902A>G (p.Asn1968Asp)
c.1417A>G (p.Asn473Asp)
n.6358A>G
n.1191A>G
c.6466A>G (p.Asn2156Asp)
n.6172A>G
c.6775A>G (p.Asn2259Asp)
c.5968A>G (p.Asn1990Asp)
c.2269A>G (p.Asn757Asp)
c.6355A>G (p.Asn2119Asp)
c.5719A>G (p.Asn1907Asp)
c.2509A>G (p.Asn837Asp)
5g.177294143A>TCA362325784NSD1c.5902A>T (p.Asn1968Tyr)
c.1417A>T (p.Asn473Tyr)
n.6358A>T
n.1191A>T
c.6466A>T (p.Asn2156Tyr)
n.6172A>T
c.6775A>T (p.Asn2259Tyr)
c.5968A>T (p.Asn1990Tyr)
c.2269A>T (p.Asn757Tyr)
c.6355A>T (p.Asn2119Tyr)
c.5719A>T (p.Asn1907Tyr)
c.2509A>T (p.Asn837Tyr)
5g.177294144A=CA1603535793NSD1c.5903A= (p.Asn1968=)
c.1418A= (p.Asn473=)
n.6359A=
n.1192A=
c.6467A= (p.Asn2156=)
n.6173A=
c.6776A= (p.Asn2259=)
c.5969A= (p.Asn1990=)
c.2270A= (p.Asn757=)
c.6356A= (p.Asn2119=)
c.5720A= (p.Asn1907=)
c.2510A= (p.Asn837=)
5g.177294144A>CCA362325787NSD1c.5903A>C (p.Asn1968Thr)
c.1418A>C (p.Asn473Thr)
n.6359A>C
n.1192A>C
c.6467A>C (p.Asn2156Thr)
n.6173A>C
c.6776A>C (p.Asn2259Thr)
c.5969A>C (p.Asn1990Thr)
c.2270A>C (p.Asn757Thr)
c.6356A>C (p.Asn2119Thr)
c.5720A>C (p.Asn1907Thr)
c.2510A>C (p.Asn837Thr)
5g.177294144A>GCA3578039NSD1c.5903A>G (p.Asn1968Ser)
c.1418A>G (p.Asn473Ser)
n.6359A>G
n.1192A>G
c.6467A>G (p.Asn2156Ser)
n.6173A>G
c.6776A>G (p.Asn2259Ser)
c.5969A>G (p.Asn1990Ser)
c.2270A>G (p.Asn757Ser)
c.6356A>G (p.Asn2119Ser)
c.5720A>G (p.Asn1907Ser)
c.2510A>G (p.Asn837Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177294144A>TCA362325793NSD1c.5903A>T (p.Asn1968Ile)
c.1418A>T (p.Asn473Ile)
n.6359A>T
n.1192A>T
c.6467A>T (p.Asn2156Ile)
n.6173A>T
c.6776A>T (p.Asn2259Ile)
c.5969A>T (p.Asn1990Ile)
c.2270A>T (p.Asn757Ile)
c.6356A>T (p.Asn2119Ile)
c.5720A>T (p.Asn1907Ile)
c.2510A>T (p.Asn837Ile)
5g.177294145C>ACA362325797NSD1c.5904C>A (p.Asn1968Lys)
c.1419C>A (p.Asn473Lys)
n.6360C>A
n.1193C>A
c.6468C>A (p.Asn2156Lys)
n.6174C>A
c.6777C>A (p.Asn2259Lys)
c.5970C>A (p.Asn1990Lys)
c.2271C>A (p.Asn757Lys)
c.6357C>A (p.Asn2119Lys)
c.5721C>A (p.Asn1907Lys)
c.2511C>A (p.Asn837Lys)
5g.177294145C>GCA362325801NSD1c.5904C>G (p.Asn1968Lys)
c.1419C>G (p.Asn473Lys)
n.6360C>G
n.1193C>G
c.6468C>G (p.Asn2156Lys)
n.6174C>G
c.6777C>G (p.Asn2259Lys)
c.5970C>G (p.Asn1990Lys)
c.2271C>G (p.Asn757Lys)
c.6357C>G (p.Asn2119Lys)
c.5721C>G (p.Asn1907Lys)
c.2511C>G (p.Asn837Lys)
5g.177294145C>TCA447961843NSD1c.5904C>T (p.Asn1968=)
c.1419C>T (p.Asn473=)
n.6360C>T
n.1193C>T
c.6468C>T (p.Asn2156=)
n.6174C>T
c.6777C>T (p.Asn2259=)
c.5970C>T (p.Asn1990=)
c.2271C>T (p.Asn757=)
c.6357C>T (p.Asn2119=)
c.5721C>T (p.Asn1907=)
c.2511C>T (p.Asn837=)
 dbSNP
5g.177294146C>ACA362325809NSD1c.5905C>A (p.Gln1969Lys)
c.1420C>A (p.Gln474Lys)
n.6361C>A
n.1194C>A
c.6469C>A (p.Gln2157Lys)
n.6175C>A
c.6778C>A (p.Gln2260Lys)
c.5971C>A (p.Gln1991Lys)
c.2272C>A (p.Gln758Lys)
c.6358C>A (p.Gln2120Lys)
c.5722C>A (p.Gln1908Lys)
c.2512C>A (p.Gln838Lys)
5g.177294146C=CA1603535796NSD1c.5905C= (p.Gln1969=)
c.1420C= (p.Gln474=)
n.6361C=
n.1194C=
c.6469C= (p.Gln2157=)
n.6175C=
c.6778C= (p.Gln2260=)
c.5971C= (p.Gln1991=)
c.2272C= (p.Gln758=)
c.6358C= (p.Gln2120=)
c.5722C= (p.Gln1908=)
c.2512C= (p.Gln838=)
5g.177294146C>GCA362325812NSD1c.5905C>G (p.Gln1969Glu)
c.1420C>G (p.Gln474Glu)
n.6361C>G
n.1194C>G
c.6469C>G (p.Gln2157Glu)
n.6175C>G
c.6778C>G (p.Gln2260Glu)
c.5971C>G (p.Gln1991Glu)
c.2272C>G (p.Gln758Glu)
c.6358C>G (p.Gln2120Glu)
c.5722C>G (p.Gln1908Glu)
c.2512C>G (p.Gln838Glu)
5g.177294146C>TCA362325818NSD1c.5905C>T (p.Gln1969Ter)
c.1420C>T (p.Gln474Ter)
n.6361C>T
n.1194C>T
c.6469C>T (p.Gln2157Ter)
n.6175C>T
c.6778C>T (p.Gln2260Ter)
c.5971C>T (p.Gln1991Ter)
c.2272C>T (p.Gln758Ter)
c.6358C>T (p.Gln2120Ter)
c.5722C>T (p.Gln1908Ter)
c.2512C>T (p.Gln838Ter)
 dbSNP gnomAD v2
5g.177294147A>CCA362325832NSD1c.5906A>C (p.Gln1969Pro)
c.1421A>C (p.Gln474Pro)
n.6362A>C
n.1195A>C
c.6470A>C (p.Gln2157Pro)
n.6176A>C
c.6779A>C (p.Gln2260Pro)
c.5972A>C (p.Gln1991Pro)
c.2273A>C (p.Gln758Pro)
c.6359A>C (p.Gln2120Pro)
c.5723A>C (p.Gln1908Pro)
c.2513A>C (p.Gln838Pro)
5g.177294147A>GCA362325825NSD1c.5906A>G (p.Gln1969Arg)
c.1421A>G (p.Gln474Arg)
n.6362A>G
n.1195A>G
c.6470A>G (p.Gln2157Arg)
n.6176A>G
c.6779A>G (p.Gln2260Arg)
c.5972A>G (p.Gln1991Arg)
c.2273A>G (p.Gln758Arg)
c.6359A>G (p.Gln2120Arg)
c.5723A>G (p.Gln1908Arg)
c.2513A>G (p.Gln838Arg)
 gnomAD v4
5g.177294147A>TCA362325829NSD1c.5906A>T (p.Gln1969Leu)
c.1421A>T (p.Gln474Leu)
n.6362A>T
n.1195A>T
c.6470A>T (p.Gln2157Leu)
n.6176A>T
c.6779A>T (p.Gln2260Leu)
c.5972A>T (p.Gln1991Leu)
c.2273A>T (p.Gln758Leu)
c.6359A>T (p.Gln2120Leu)
c.5723A>T (p.Gln1908Leu)
c.2513A>T (p.Gln838Leu)
5g.177294148G>ACA447961844NSD1c.5907G>A (p.Gln1969=)
c.1422G>A (p.Gln474=)
n.6363G>A
n.1196G>A
c.6471G>A (p.Gln2157=)
n.6177G>A
c.6780G>A (p.Gln2260=)
c.5973G>A (p.Gln1991=)
c.2274G>A (p.Gln758=)
c.6360G>A (p.Gln2120=)
c.5724G>A (p.Gln1908=)
c.2514G>A (p.Gln838=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177294148G>CCA362325837NSD1c.5907G>C (p.Gln1969His)
c.1422G>C (p.Gln474His)
n.6363G>C
n.1196G>C
c.6471G>C (p.Gln2157His)
n.6177G>C
c.6780G>C (p.Gln2260His)
c.5973G>C (p.Gln1991His)
c.2274G>C (p.Gln758His)
c.6360G>C (p.Gln2120His)
c.5724G>C (p.Gln1908His)
c.2514G>C (p.Gln838His)
5g.177294148G=CA1603535798NSD1c.5907G= (p.Gln1969=)
c.1422G= (p.Gln474=)
n.6363G=
n.1196G=
c.6471G= (p.Gln2157=)
n.6177G=
c.6780G= (p.Gln2260=)
c.5973G= (p.Gln1991=)
c.2274G= (p.Gln758=)
c.6360G= (p.Gln2120=)
c.5724G= (p.Gln1908=)
c.2514G= (p.Gln838=)
5g.177294148G>TCA362325844NSD1c.5907G>T (p.Gln1969His)
c.1422G>T (p.Gln474His)
n.6363G>T
n.1196G>T
c.6471G>T (p.Gln2157His)
n.6177G>T
c.6780G>T (p.Gln2260His)
c.5973G>T (p.Gln1991His)
c.2274G>T (p.Gln758His)
c.6360G>T (p.Gln2120His)
c.5724G>T (p.Gln1908His)
c.2514G>T (p.Gln838His)
5g.177294149A>CCA362325846NSD1c.5908A>C (p.Met1970Leu)
c.1423A>C (p.Met475Leu)
n.6364A>C
n.1197A>C
c.6472A>C (p.Met2158Leu)
n.6178A>C
c.6781A>C (p.Met2261Leu)
c.5974A>C (p.Met1992Leu)
c.2275A>C (p.Met759Leu)
c.6361A>C (p.Met2121Leu)
c.5725A>C (p.Met1909Leu)
c.2515A>C (p.Met839Leu)
 gnomAD v4
5g.177294149A>GCA362325852NSD1c.5908A>G (p.Met1970Val)
c.1423A>G (p.Met475Val)
n.6364A>G
n.1197A>G
c.6472A>G (p.Met2158Val)
n.6178A>G
c.6781A>G (p.Met2261Val)
c.5974A>G (p.Met1992Val)
c.2275A>G (p.Met759Val)
c.6361A>G (p.Met2121Val)
c.5725A>G (p.Met1909Val)
c.2515A>G (p.Met839Val)
 gnomAD v4
5g.177294149A>TCA362325856NSD1c.5908A>T (p.Met1970Leu)
c.1423A>T (p.Met475Leu)
n.6364A>T
n.1197A>T
c.6472A>T (p.Met2158Leu)
n.6178A>T
c.6781A>T (p.Met2261Leu)
c.5974A>T (p.Met1992Leu)
c.2275A>T (p.Met759Leu)
c.6361A>T (p.Met2121Leu)
c.5725A>T (p.Met1909Leu)
c.2515A>T (p.Met839Leu)
5g.177294150T>ACA362325860NSD1c.5909T>A (p.Met1970Lys)
c.1424T>A (p.Met475Lys)
n.6365T>A
n.1198T>A
c.6473T>A (p.Met2158Lys)
n.6179T>A
c.6782T>A (p.Met2261Lys)
c.5975T>A (p.Met1992Lys)
c.2276T>A (p.Met759Lys)
c.6362T>A (p.Met2121Lys)
c.5726T>A (p.Met1909Lys)
c.2516T>A (p.Met839Lys)
5g.177294150T>CCA149209NSD1c.5909T>C (p.Met1970Thr)
c.1424T>C (p.Met475Thr)
n.6365T>C
n.1198T>C
c.6473T>C (p.Met2158Thr)
n.6179T>C
c.6782T>C (p.Met2261Thr)
c.5975T>C (p.Met1992Thr)
c.2276T>C (p.Met759Thr)
c.6362T>C (p.Met2121Thr)
c.5726T>C (p.Met1909Thr)
c.2516T>C (p.Met839Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294150T>GCA362325867NSD1c.5909T>G (p.Met1970Arg)
c.1424T>G (p.Met475Arg)
n.6365T>G
n.1198T>G
c.6473T>G (p.Met2158Arg)
n.6179T>G
c.6782T>G (p.Met2261Arg)
c.5975T>G (p.Met1992Arg)
c.2276T>G (p.Met759Arg)
c.6362T>G (p.Met2121Arg)
c.5726T>G (p.Met1909Arg)
c.2516T>G (p.Met839Arg)
5g.177294150T=CA1603535825NSD1c.5909T= (p.Met1970=)
c.1424T= (p.Met475=)
n.6365T=
n.1198T=
c.6473T= (p.Met2158=)
n.6179T=
c.6782T= (p.Met2261=)
c.5975T= (p.Met1992=)
c.2276T= (p.Met759=)
c.6362T= (p.Met2121=)
c.5726T= (p.Met1909=)
c.2516T= (p.Met839=)
5g.177294151G>ACA362325871NSD1c.5910G>A (p.Met1970Ile)
c.1425G>A (p.Met475Ile)
n.6366G>A
n.1199G>A
c.6474G>A (p.Met2158Ile)
n.6180G>A
c.6783G>A (p.Met2261Ile)
c.5976G>A (p.Met1992Ile)
c.2277G>A (p.Met759Ile)
c.6363G>A (p.Met2121Ile)
c.5727G>A (p.Met1909Ile)
c.2517G>A (p.Met839Ile)
 gnomAD v4
5g.177294151G>CCA362325872NSD1c.5910G>C (p.Met1970Ile)
c.1425G>C (p.Met475Ile)
n.6366G>C
n.1199G>C
c.6474G>C (p.Met2158Ile)
n.6180G>C
c.6783G>C (p.Met2261Ile)
c.5976G>C (p.Met1992Ile)
c.2277G>C (p.Met759Ile)
c.6363G>C (p.Met2121Ile)
c.5727G>C (p.Met1909Ile)
c.2517G>C (p.Met839Ile)
5g.177294151G=CA1603535831NSD1c.5910G= (p.Met1970=)
c.1425G= (p.Met475=)
n.6366G=
n.1199G=
c.6474G= (p.Met2158=)
n.6180G=
c.6783G= (p.Met2261=)
c.5976G= (p.Met1992=)
c.2277G= (p.Met759=)
c.6363G= (p.Met2121=)
c.5727G= (p.Met1909=)
c.2517G= (p.Met839=)
5g.177294151G>TCA362325873NSD1c.5910G>T (p.Met1970Ile)
c.1425G>T (p.Met475Ile)
n.6366G>T
n.1199G>T
c.6474G>T (p.Met2158Ile)
n.6180G>T
c.6783G>T (p.Met2261Ile)
c.5976G>T (p.Met1992Ile)
c.2277G>T (p.Met759Ile)
c.6363G>T (p.Met2121Ile)
c.5727G>T (p.Met1909Ile)
c.2517G>T (p.Met839Ile)
 dbSNP
5g.177294152C>ACA362325875NSD1c.5911C>A (p.Leu1971Met)
c.1426C>A (p.Leu476Met)
n.6367C>A
n.1200C>A
c.6475C>A (p.Leu2159Met)
n.6181C>A
c.6784C>A (p.Leu2262Met)
c.5977C>A (p.Leu1993Met)
c.2278C>A (p.Leu760Met)
c.6364C>A (p.Leu2122Met)
c.5728C>A (p.Leu1910Met)
c.2518C>A (p.Leu840Met)
5g.177294152C=CA1603535836NSD1c.5911C= (p.Leu1971=)
c.1426C= (p.Leu476=)
n.6367C=
n.1200C=
c.6475C= (p.Leu2159=)
n.6181C=
c.6784C= (p.Leu2262=)
c.5977C= (p.Leu1993=)
c.2278C= (p.Leu760=)
c.6364C= (p.Leu2122=)
c.5728C= (p.Leu1910=)
c.2518C= (p.Leu840=)
5g.177294152C>GCA362325878NSD1c.5911C>G (p.Leu1971Val)
c.1426C>G (p.Leu476Val)
n.6367C>G
n.1200C>G
c.6475C>G (p.Leu2159Val)
n.6181C>G
c.6784C>G (p.Leu2262Val)
c.5977C>G (p.Leu1993Val)
c.2278C>G (p.Leu760Val)
c.6364C>G (p.Leu2122Val)
c.5728C>G (p.Leu1910Val)
c.2518C>G (p.Leu840Val)
5g.177294152C>TCA447961845NSD1c.5911C>T (p.Leu1971=)
c.1426C>T (p.Leu476=)
n.6367C>T
n.1200C>T
c.6475C>T (p.Leu2159=)
n.6181C>T
c.6784C>T (p.Leu2262=)
c.5977C>T (p.Leu1993=)
c.2278C>T (p.Leu760=)
c.6364C>T (p.Leu2122=)
c.5728C>T (p.Leu1910=)
c.2518C>T (p.Leu840=)
 dbSNP gnomAD v2 gnomAD v4
5g.177294153T>ACA362325894NSD1c.5912T>A (p.Leu1971Gln)
c.1427T>A (p.Leu476Gln)
n.6368T>A
n.1201T>A
c.6476T>A (p.Leu2159Gln)
n.6182T>A
c.6785T>A (p.Leu2262Gln)
c.5978T>A (p.Leu1993Gln)
c.2279T>A (p.Leu760Gln)
c.6365T>A (p.Leu2122Gln)
c.5729T>A (p.Leu1910Gln)
c.2519T>A (p.Leu840Gln)
5g.177294153T>CCA362325886NSD1c.5912T>C (p.Leu1971Pro)
c.1427T>C (p.Leu476Pro)
n.6368T>C
n.1201T>C
c.6476T>C (p.Leu2159Pro)
n.6182T>C
c.6785T>C (p.Leu2262Pro)
c.5978T>C (p.Leu1993Pro)
c.2279T>C (p.Leu760Pro)
c.6365T>C (p.Leu2122Pro)
c.5729T>C (p.Leu1910Pro)
c.2519T>C (p.Leu840Pro)
 dbSNP gnomAD v2 gnomAD v4
5g.177294153T>GCA362325882NSD1c.5912T>G (p.Leu1971Arg)
c.1427T>G (p.Leu476Arg)
n.6368T>G
n.1201T>G
c.6476T>G (p.Leu2159Arg)
n.6182T>G
c.6785T>G (p.Leu2262Arg)
c.5978T>G (p.Leu1993Arg)
c.2279T>G (p.Leu760Arg)
c.6365T>G (p.Leu2122Arg)
c.5729T>G (p.Leu1910Arg)
c.2519T>G (p.Leu840Arg)
5g.177294153T=CA1603535840NSD1c.5912T= (p.Leu1971=)
c.1427T= (p.Leu476=)
n.6368T=
n.1201T=
c.6476T= (p.Leu2159=)
n.6182T=
c.6785T= (p.Leu2262=)
c.5978T= (p.Leu1993=)
c.2279T= (p.Leu760=)
c.6365T= (p.Leu2122=)
c.5729T= (p.Leu1910=)
c.2519T= (p.Leu840=)
5g.177294154G>ACA447961846NSD1c.5913G>A (p.Leu1971=)
c.1428G>A (p.Leu476=)
n.6369G>A
n.1202G>A
c.6477G>A (p.Leu2159=)
n.6183G>A
c.6786G>A (p.Leu2262=)
c.5979G>A (p.Leu1993=)
c.2280G>A (p.Leu760=)
c.6366G>A (p.Leu2122=)
c.5730G>A (p.Leu1910=)
c.2520G>A (p.Leu840=)
 dbSNP
5g.177294154G>CCA447961847NSD1c.5913G>C (p.Leu1971=)
c.1428G>C (p.Leu476=)
n.6369G>C
n.1202G>C
c.6477G>C (p.Leu2159=)
n.6183G>C
c.6786G>C (p.Leu2262=)
c.5979G>C (p.Leu1993=)
c.2280G>C (p.Leu760=)
c.6366G>C (p.Leu2122=)
c.5730G>C (p.Leu1910=)
c.2520G>C (p.Leu840=)
5g.177294154G=CA1603535845NSD1c.5913G= (p.Leu1971=)
c.1428G= (p.Leu476=)
n.6369G=
n.1202G=
c.6477G= (p.Leu2159=)
n.6183G=
c.6786G= (p.Leu2262=)
c.5979G= (p.Leu1993=)
c.2280G= (p.Leu760=)
c.6366G= (p.Leu2122=)
c.5730G= (p.Leu1910=)
c.2520G= (p.Leu840=)
5g.177294154G>TCA3578040NSD1c.5913G>T (p.Leu1971=)
c.1428G>T (p.Leu476=)
n.6369G>T
n.1202G>T
c.6477G>T (p.Leu2159=)
n.6183G>T
c.6786G>T (p.Leu2262=)
c.5979G>T (p.Leu1993=)
c.2280G>T (p.Leu760=)
c.6366G>T (p.Leu2122=)
c.5730G>T (p.Leu1910=)
c.2520G>T (p.Leu840=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294155T>ACA3578041NSD1c.5914T>A (p.Ser1972Thr)
c.1429T>A (p.Ser477Thr)
n.6370T>A
n.1203T>A
c.6478T>A (p.Ser2160Thr)
n.6184T>A
c.6787T>A (p.Ser2263Thr)
c.5980T>A (p.Ser1994Thr)
c.2281T>A (p.Ser761Thr)
c.6367T>A (p.Ser2123Thr)
c.5731T>A (p.Ser1911Thr)
c.2521T>A (p.Ser841Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294155T>CCA362325905NSD1c.5914T>C (p.Ser1972Pro)
c.1429T>C (p.Ser477Pro)
n.6370T>C
n.1203T>C
c.6478T>C (p.Ser2160Pro)
n.6184T>C
c.6787T>C (p.Ser2263Pro)
c.5980T>C (p.Ser1994Pro)
c.2281T>C (p.Ser761Pro)
c.6367T>C (p.Ser2123Pro)
c.5731T>C (p.Ser1911Pro)
c.2521T>C (p.Ser841Pro)
5g.177294155T>GCA362325910NSD1c.5914T>G (p.Ser1972Ala)
c.1429T>G (p.Ser477Ala)
n.6370T>G
n.1203T>G
c.6478T>G (p.Ser2160Ala)
n.6184T>G
c.6787T>G (p.Ser2263Ala)
c.5980T>G (p.Ser1994Ala)
c.2281T>G (p.Ser761Ala)
c.6367T>G (p.Ser2123Ala)
c.5731T>G (p.Ser1911Ala)
c.2521T>G (p.Ser841Ala)
5g.177294155T=CA1603535848NSD1c.5914T= (p.Ser1972=)
c.1429T= (p.Ser477=)
n.6370T=
n.1203T=
c.6478T= (p.Ser2160=)
n.6184T=
c.6787T= (p.Ser2263=)
c.5980T= (p.Ser1994=)
c.2281T= (p.Ser761=)
c.6367T= (p.Ser2123=)
c.5731T= (p.Ser1911=)
c.2521T= (p.Ser841=)
5g.177294156C>ACA362325914NSD1c.5915C>A (p.Ser1972Ter)
c.1430C>A (p.Ser477Ter)
n.6371C>A
n.1204C>A
c.6479C>A (p.Ser2160Ter)
n.6185C>A
c.6788C>A (p.Ser2263Ter)
c.5981C>A (p.Ser1994Ter)
c.2282C>A (p.Ser761Ter)
c.6368C>A (p.Ser2123Ter)
c.5732C>A (p.Ser1911Ter)
c.2522C>A (p.Ser841Ter)
 dbSNP
5g.177294156C=CA1603535854NSD1c.5915C= (p.Ser1972=)
c.1430C= (p.Ser477=)
n.6371C=
n.1204C=
c.6479C= (p.Ser2160=)
n.6185C=
c.6788C= (p.Ser2263=)
c.5981C= (p.Ser1994=)
c.2282C= (p.Ser761=)
c.6368C= (p.Ser2123=)
c.5732C= (p.Ser1911=)
c.2522C= (p.Ser841=)
5g.177294156C>GCA362325915NSD1c.5915C>G (p.Ser1972Trp)
c.1430C>G (p.Ser477Trp)
n.6371C>G
n.1204C>G
c.6479C>G (p.Ser2160Trp)
n.6185C>G
c.6788C>G (p.Ser2263Trp)
c.5981C>G (p.Ser1994Trp)
c.2282C>G (p.Ser761Trp)
c.6368C>G (p.Ser2123Trp)
c.5732C>G (p.Ser1911Trp)
c.2522C>G (p.Ser841Trp)
5g.177294156C>TCA3578042NSD1c.5915C>T (p.Ser1972Leu)
c.1430C>T (p.Ser477Leu)
n.6371C>T
n.1204C>T
c.6479C>T (p.Ser2160Leu)
n.6185C>T
c.6788C>T (p.Ser2263Leu)
c.5981C>T (p.Ser1994Leu)
c.2282C>T (p.Ser761Leu)
c.6368C>T (p.Ser2123Leu)
c.5732C>T (p.Ser1911Leu)
c.2522C>T (p.Ser841Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294157G>ACA3578043NSD1c.5916G>A (p.Ser1972=)
c.1431G>A (p.Ser477=)
n.6372G>A
n.1205G>A
c.6480G>A (p.Ser2160=)
n.6186G>A
c.6789G>A (p.Ser2263=)
c.5982G>A (p.Ser1994=)
c.2283G>A (p.Ser761=)
c.6369G>A (p.Ser2123=)
c.5733G>A (p.Ser1911=)
c.2523G>A (p.Ser841=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294157G>CCA447961848NSD1c.5916G>C (p.Ser1972=)
c.1431G>C (p.Ser477=)
n.6372G>C
n.1205G>C
c.6480G>C (p.Ser2160=)
n.6186G>C
c.6789G>C (p.Ser2263=)
c.5982G>C (p.Ser1994=)
c.2283G>C (p.Ser761=)
c.6369G>C (p.Ser2123=)
c.5733G>C (p.Ser1911=)
c.2523G>C (p.Ser841=)
5g.177294157G=CA1603535861NSD1c.5916G= (p.Ser1972=)
c.1431G= (p.Ser477=)
n.6372G=
n.1205G=
c.6480G= (p.Ser2160=)
n.6186G=
c.6789G= (p.Ser2263=)
c.5982G= (p.Ser1994=)
c.2283G= (p.Ser761=)
c.6369G= (p.Ser2123=)
c.5733G= (p.Ser1911=)
c.2523G= (p.Ser841=)
5g.177294157G>TCA447961849NSD1c.5916G>T (p.Ser1972=)
c.1431G>T (p.Ser477=)
n.6372G>T
n.1205G>T
c.6480G>T (p.Ser2160=)
n.6186G>T
c.6789G>T (p.Ser2263=)
c.5982G>T (p.Ser1994=)
c.2283G>T (p.Ser761=)
c.6369G>T (p.Ser2123=)
c.5733G>T (p.Ser1911=)
c.2523G>T (p.Ser841=)
5g.177294158C>ACA362325924NSD1c.5917C>A (p.Leu1973Ile)
c.1432C>A (p.Leu478Ile)
n.6373C>A
n.1206C>A
c.6481C>A (p.Leu2161Ile)
n.6187C>A
c.6790C>A (p.Leu2264Ile)
c.5983C>A (p.Leu1995Ile)
c.2284C>A (p.Leu762Ile)
c.6370C>A (p.Leu2124Ile)
c.5734C>A (p.Leu1912Ile)
c.2524C>A (p.Leu842Ile)
5g.177294158C>GCA362325927NSD1c.5917C>G (p.Leu1973Val)
c.1432C>G (p.Leu478Val)
n.6373C>G
n.1206C>G
c.6481C>G (p.Leu2161Val)
n.6187C>G
c.6790C>G (p.Leu2264Val)
c.5983C>G (p.Leu1995Val)
c.2284C>G (p.Leu762Val)
c.6370C>G (p.Leu2124Val)
c.5734C>G (p.Leu1912Val)
c.2524C>G (p.Leu842Val)
5g.177294158C>TCA362325932NSD1c.5917C>T (p.Leu1973Phe)
c.1432C>T (p.Leu478Phe)
n.6373C>T
n.1206C>T
c.6481C>T (p.Leu2161Phe)
n.6187C>T
c.6790C>T (p.Leu2264Phe)
c.5983C>T (p.Leu1995Phe)
c.2284C>T (p.Leu762Phe)
c.6370C>T (p.Leu2124Phe)
c.5734C>T (p.Leu1912Phe)
c.2524C>T (p.Leu842Phe)
5g.177294159T>ACA362325935NSD1c.5918T>A (p.Leu1973His)
c.1433T>A (p.Leu478His)
n.6374T>A
n.1207T>A
c.6482T>A (p.Leu2161His)
n.6188T>A
c.6791T>A (p.Leu2264His)
c.5984T>A (p.Leu1995His)
c.2285T>A (p.Leu762His)
c.6371T>A (p.Leu2124His)
c.5735T>A (p.Leu1912His)
c.2525T>A (p.Leu842His)
5g.177294159T>CCA362325938NSD1c.5918T>C (p.Leu1973Pro)
c.1433T>C (p.Leu478Pro)
n.6374T>C
n.1207T>C
c.6482T>C (p.Leu2161Pro)
n.6188T>C
c.6791T>C (p.Leu2264Pro)
c.5984T>C (p.Leu1995Pro)
c.2285T>C (p.Leu762Pro)
c.6371T>C (p.Leu2124Pro)
c.5735T>C (p.Leu1912Pro)
c.2525T>C (p.Leu842Pro)
5g.177294159T>GCA362325940NSD1c.5918T>G (p.Leu1973Arg)
c.1433T>G (p.Leu478Arg)
n.6374T>G
n.1207T>G
c.6482T>G (p.Leu2161Arg)
n.6188T>G
c.6791T>G (p.Leu2264Arg)
c.5984T>G (p.Leu1995Arg)
c.2285T>G (p.Leu762Arg)
c.6371T>G (p.Leu2124Arg)
c.5735T>G (p.Leu1912Arg)
c.2525T>G (p.Leu842Arg)
5g.177294160C>ACA447961850NSD1c.5919C>A (p.Leu1973=)
c.1434C>A (p.Leu478=)
n.6375C>A
n.1208C>A
c.6483C>A (p.Leu2161=)
n.6189C>A
c.6792C>A (p.Leu2264=)
c.5985C>A (p.Leu1995=)
c.2286C>A (p.Leu762=)
c.6372C>A (p.Leu2124=)
c.5736C>A (p.Leu1912=)
c.2526C>A (p.Leu842=)
5g.177294160C>GCA447961851NSD1c.5919C>G (p.Leu1973=)
c.1434C>G (p.Leu478=)
n.6375C>G
n.1208C>G
c.6483C>G (p.Leu2161=)
n.6189C>G
c.6792C>G (p.Leu2264=)
c.5985C>G (p.Leu1995=)
c.2286C>G (p.Leu762=)
c.6372C>G (p.Leu2124=)
c.5736C>G (p.Leu1912=)
c.2526C>G (p.Leu842=)
5g.177294160C>TCA447961852NSD1c.5919C>T (p.Leu1973=)
c.1434C>T (p.Leu478=)
n.6375C>T
n.1208C>T
c.6483C>T (p.Leu2161=)
n.6189C>T
c.6792C>T (p.Leu2264=)
c.5985C>T (p.Leu1995=)
c.2286C>T (p.Leu762=)
c.6372C>T (p.Leu2124=)
c.5736C>T (p.Leu1912=)
c.2526C>T (p.Leu842=)
 gnomAD v4
5g.177294161T>ACA362325955NSD1c.5920T>A (p.Ser1974Thr)
c.1435T>A (p.Ser479Thr)
n.6376T>A
n.1209T>A
c.6484T>A (p.Ser2162Thr)
n.6190T>A
c.6793T>A (p.Ser2265Thr)
c.5986T>A (p.Ser1996Thr)
c.2287T>A (p.Ser763Thr)
c.6373T>A (p.Ser2125Thr)
c.5737T>A (p.Ser1913Thr)
c.2527T>A (p.Ser843Thr)
5g.177294161T>CCA362325944NSD1c.5920T>C (p.Ser1974Pro)
c.1435T>C (p.Ser479Pro)
n.6376T>C
n.1209T>C
c.6484T>C (p.Ser2162Pro)
n.6190T>C
c.6793T>C (p.Ser2265Pro)
c.5986T>C (p.Ser1996Pro)
c.2287T>C (p.Ser763Pro)
c.6373T>C (p.Ser2125Pro)
c.5737T>C (p.Ser1913Pro)
c.2527T>C (p.Ser843Pro)
5g.177294161T>GCA362325948NSD1c.5920T>G (p.Ser1974Ala)
c.1435T>G (p.Ser479Ala)
n.6376T>G
n.1209T>G
c.6484T>G (p.Ser2162Ala)
n.6190T>G
c.6793T>G (p.Ser2265Ala)
c.5986T>G (p.Ser1996Ala)
c.2287T>G (p.Ser763Ala)
c.6373T>G (p.Ser2125Ala)
c.5737T>G (p.Ser1913Ala)
c.2527T>G (p.Ser843Ala)
5g.177294162C>ACA362325960NSD1c.5921C>A (p.Ser1974Tyr)
c.1436C>A (p.Ser479Tyr)
n.6377C>A
n.1210C>A
c.6485C>A (p.Ser2162Tyr)
n.6191C>A
c.6794C>A (p.Ser2265Tyr)
c.5987C>A (p.Ser1996Tyr)
c.2288C>A (p.Ser763Tyr)
c.6374C>A (p.Ser2125Tyr)
c.5738C>A (p.Ser1913Tyr)
c.2528C>A (p.Ser843Tyr)
 dbSNP
5g.177294162C=CA1603535868NSD1c.5921C= (p.Ser1974=)
c.1436C= (p.Ser479=)
n.6377C=
n.1210C=
c.6485C= (p.Ser2162=)
n.6191C=
c.6794C= (p.Ser2265=)
c.5987C= (p.Ser1996=)
c.2288C= (p.Ser763=)
c.6374C= (p.Ser2125=)
c.5738C= (p.Ser1913=)
c.2528C= (p.Ser843=)
5g.177294162C>GCA362325961NSD1c.5921C>G (p.Ser1974Cys)
c.1436C>G (p.Ser479Cys)
n.6377C>G
n.1210C>G
c.6485C>G (p.Ser2162Cys)
n.6191C>G
c.6794C>G (p.Ser2265Cys)
c.5987C>G (p.Ser1996Cys)
c.2288C>G (p.Ser763Cys)
c.6374C>G (p.Ser2125Cys)
c.5738C>G (p.Ser1913Cys)
c.2528C>G (p.Ser843Cys)
5g.177294162C>TCA362325962NSD1c.5921C>T (p.Ser1974Phe)
c.1436C>T (p.Ser479Phe)
n.6377C>T
n.1210C>T
c.6485C>T (p.Ser2162Phe)
n.6191C>T
c.6794C>T (p.Ser2265Phe)
c.5987C>T (p.Ser1996Phe)
c.2288C>T (p.Ser763Phe)
c.6374C>T (p.Ser2125Phe)
c.5738C>T (p.Ser1913Phe)
c.2528C>T (p.Ser843Phe)
 dbSNP COSMIC COSMIC
5g.177294162_177294163insAAAAAAAACA2769563052NSD1c.5921_5922insAAAAAAAA (p.Ala1977ThrfsTer29)
c.1436_1437insAAAAAAAA (p.Ala482ThrfsTer29)
n.6377_6378insAAAAAAAA
n.1210_1211insAAAAAAAA
c.6485_6486insAAAAAAAA (p.Ala2165ThrfsTer29)
n.6191_6192insAAAAAAAA
c.6794_6795insAAAAAAAA (p.Ala2268ThrfsTer29)
c.5987_5988insAAAAAAAA (p.Ala1999ThrfsTer29)
c.2288_2289insAAAAAAAA (p.Ala766ThrfsTer29)
c.6374_6375insAAAAAAAA (p.Ala2128ThrfsTer29)
c.5738_5739insAAAAAAAA (p.Ala1916ThrfsTer29)
c.2528_2529insAAAAAAAA (p.Ala846ThrfsTer29)
5g.177294163C>ACA447961853NSD1c.5922C>A (p.Ser1974=)
c.1437C>A (p.Ser479=)
n.6378C>A
n.1211C>A
c.6486C>A (p.Ser2162=)
n.6192C>A
c.6795C>A (p.Ser2265=)
c.5988C>A (p.Ser1996=)
c.2289C>A (p.Ser763=)
c.6375C>A (p.Ser2125=)
c.5739C>A (p.Ser1913=)
c.2529C>A (p.Ser843=)
5g.177294163C=CA1603535872NSD1c.5922C= (p.Ser1974=)
c.1437C= (p.Ser479=)
n.6378C=
n.1211C=
c.6486C= (p.Ser2162=)
n.6192C=
c.6795C= (p.Ser2265=)
c.5988C= (p.Ser1996=)
c.2289C= (p.Ser763=)
c.6375C= (p.Ser2125=)
c.5739C= (p.Ser1913=)
c.2529C= (p.Ser843=)
5g.177294163C>GCA447961854NSD1c.5922C>G (p.Ser1974=)
c.1437C>G (p.Ser479=)
n.6378C>G
n.1211C>G
c.6486C>G (p.Ser2162=)
n.6192C>G
c.6795C>G (p.Ser2265=)
c.5988C>G (p.Ser1996=)
c.2289C>G (p.Ser763=)
c.6375C>G (p.Ser2125=)
c.5739C>G (p.Ser1913=)
c.2529C>G (p.Ser843=)
5g.177294163C>TCA3578044NSD1c.5922C>T (p.Ser1974=)
c.1437C>T (p.Ser479=)
n.6378C>T
n.1211C>T
c.6486C>T (p.Ser2162=)
n.6192C>T
c.6795C>T (p.Ser2265=)
c.5988C>T (p.Ser1996=)
c.2289C>T (p.Ser763=)
c.6375C>T (p.Ser2125=)
c.5739C>T (p.Ser1913=)
c.2529C>T (p.Ser843=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177294164A=CA1603535877NSD1c.5923A= (p.Lys1975=)
c.1438A= (p.Lys480=)
n.6379A=
n.1212A=
c.6487A= (p.Lys2163=)
n.6193A=
c.6796A= (p.Lys2266=)
c.5989A= (p.Lys1997=)
c.2290A= (p.Lys764=)
c.6376A= (p.Lys2126=)
c.5740A= (p.Lys1914=)
c.2530A= (p.Lys844=)
5g.177294164A>CCA362325967NSD1c.5923A>C (p.Lys1975Gln)
c.1438A>C (p.Lys480Gln)
n.6379A>C
n.1212A>C
c.6487A>C (p.Lys2163Gln)
n.6193A>C
c.6796A>C (p.Lys2266Gln)
c.5989A>C (p.Lys1997Gln)
c.2290A>C (p.Lys764Gln)
c.6376A>C (p.Lys2126Gln)
c.5740A>C (p.Lys1914Gln)
c.2530A>C (p.Lys844Gln)
 dbSNP
5g.177294164A>GCA223700NSD1c.5923A>G (p.Lys1975Glu)
c.1438A>G (p.Lys480Glu)
n.6379A>G
n.1212A>G
c.6487A>G (p.Lys2163Glu)
n.6193A>G
c.6796A>G (p.Lys2266Glu)
c.5989A>G (p.Lys1997Glu)
c.2290A>G (p.Lys764Glu)
c.6376A>G (p.Lys2126Glu)
c.5740A>G (p.Lys1914Glu)
c.2530A>G (p.Lys844Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294164A>TCA362325971NSD1c.5923A>T (p.Lys1975Ter)
c.1438A>T (p.Lys480Ter)
n.6379A>T
n.1212A>T
c.6487A>T (p.Lys2163Ter)
n.6193A>T
c.6796A>T (p.Lys2266Ter)
c.5989A>T (p.Lys1997Ter)
c.2290A>T (p.Lys764Ter)
c.6376A>T (p.Lys2126Ter)
c.5740A>T (p.Lys1914Ter)
c.2530A>T (p.Lys844Ter)
5g.177294169dupCA564898969NSD1c.5928dup (p.Ala1977SerfsTer13)
c.1443dup (p.Ala482SerfsTer13)
n.6384dup
n.1217dup
c.6492dup (p.Ala2165SerfsTer13)
n.6198dup
c.6801dup (p.Ala2268SerfsTer13)
c.5994dup (p.Ala1999SerfsTer13)
c.2295dup (p.Ala766SerfsTer13)
c.6381dup (p.Ala2128SerfsTer13)
c.5745dup (p.Ala1916SerfsTer13)
c.2535dup (p.Ala846SerfsTer13)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177294169delCA645548645NSD1c.5928del (p.Ala1977LeufsTer26)
c.1443del (p.Ala482LeufsTer26)
n.6384del
n.1217del
c.6492del (p.Ala2165LeufsTer26)
n.6198del
c.6801del (p.Ala2268LeufsTer26)
c.5994del (p.Ala1999LeufsTer26)
c.2295del (p.Ala766LeufsTer26)
c.6381del (p.Ala2128LeufsTer26)
c.5745del (p.Ala1916LeufsTer26)
c.2535del (p.Ala846LeufsTer26)
 COSMIC COSMIC
5g.177294165A>CCA362325985NSD1c.5924A>C (p.Lys1975Thr)
c.1439A>C (p.Lys480Thr)
n.6380A>C
n.1213A>C
c.6488A>C (p.Lys2163Thr)
n.6194A>C
c.6797A>C (p.Lys2266Thr)
c.5990A>C (p.Lys1997Thr)
c.2291A>C (p.Lys764Thr)
c.6377A>C (p.Lys2126Thr)
c.5741A>C (p.Lys1914Thr)
c.2531A>C (p.Lys844Thr)
5g.177294165A>GCA362325987NSD1c.5924A>G (p.Lys1975Arg)
c.1439A>G (p.Lys480Arg)
n.6380A>G
n.1213A>G
c.6488A>G (p.Lys2163Arg)
n.6194A>G
c.6797A>G (p.Lys2266Arg)
c.5990A>G (p.Lys1997Arg)
c.2291A>G (p.Lys764Arg)
c.6377A>G (p.Lys2126Arg)
c.5741A>G (p.Lys1914Arg)
c.2531A>G (p.Lys844Arg)
5g.177294165A>TCA362325989NSD1c.5924A>T (p.Lys1975Ile)
c.1439A>T (p.Lys480Ile)
n.6380A>T
n.1213A>T
c.6488A>T (p.Lys2163Ile)
n.6194A>T
c.6797A>T (p.Lys2266Ile)
c.5990A>T (p.Lys1997Ile)
c.2291A>T (p.Lys764Ile)
c.6377A>T (p.Lys2126Ile)
c.5741A>T (p.Lys1914Ile)
c.2531A>T (p.Lys844Ile)
5g.177294166A>CCA362325992NSD1c.5925A>C (p.Lys1975Asn)
c.1440A>C (p.Lys480Asn)
n.6381A>C
n.1214A>C
c.6489A>C (p.Lys2163Asn)
n.6195A>C
c.6798A>C (p.Lys2266Asn)
c.5991A>C (p.Lys1997Asn)
c.2292A>C (p.Lys764Asn)
c.6378A>C (p.Lys2126Asn)
c.5742A>C (p.Lys1914Asn)
c.2532A>C (p.Lys844Asn)
5g.177294166A>GCA447961855NSD1c.5925A>G (p.Lys1975=)
c.1440A>G (p.Lys480=)
n.6381A>G
n.1214A>G
c.6489A>G (p.Lys2163=)
n.6195A>G
c.6798A>G (p.Lys2266=)
c.5991A>G (p.Lys1997=)
c.2292A>G (p.Lys764=)
c.6378A>G (p.Lys2126=)
c.5742A>G (p.Lys1914=)
c.2532A>G (p.Lys844=)
5g.177294166A>TCA362325995NSD1c.5925A>T (p.Lys1975Asn)
c.1440A>T (p.Lys480Asn)
n.6381A>T
n.1214A>T
c.6489A>T (p.Lys2163Asn)
n.6195A>T
c.6798A>T (p.Lys2266Asn)
c.5991A>T (p.Lys1997Asn)
c.2292A>T (p.Lys764Asn)
c.6378A>T (p.Lys2126Asn)
c.5742A>T (p.Lys1914Asn)
c.2532A>T (p.Lys844Asn)
5g.177294167A>CCA362326011NSD1c.5926A>C (p.Lys1976Gln)
c.1441A>C (p.Lys481Gln)
n.6382A>C
n.1215A>C
c.6490A>C (p.Lys2164Gln)
n.6196A>C
c.6799A>C (p.Lys2267Gln)
c.5992A>C (p.Lys1998Gln)
c.2293A>C (p.Lys765Gln)
c.6379A>C (p.Lys2127Gln)
c.5743A>C (p.Lys1915Gln)
c.2533A>C (p.Lys845Gln)
5g.177294167A>GCA362326000NSD1c.5926A>G (p.Lys1976Glu)
c.1441A>G (p.Lys481Glu)
n.6382A>G
n.1215A>G
c.6490A>G (p.Lys2164Glu)
n.6196A>G
c.6799A>G (p.Lys2267Glu)
c.5992A>G (p.Lys1998Glu)
c.2293A>G (p.Lys765Glu)
c.6379A>G (p.Lys2127Glu)
c.5743A>G (p.Lys1915Glu)
c.2533A>G (p.Lys845Glu)
5g.177294167A>TCA362326008NSD1c.5926A>T (p.Lys1976Ter)
c.1441A>T (p.Lys481Ter)
n.6382A>T
n.1215A>T
c.6490A>T (p.Lys2164Ter)
n.6196A>T
c.6799A>T (p.Lys2267Ter)
c.5992A>T (p.Lys1998Ter)
c.2293A>T (p.Lys765Ter)
c.6379A>T (p.Lys2127Ter)
c.5743A>T (p.Lys1915Ter)
c.2533A>T (p.Lys845Ter)
5g.177294168A>CCA362326017NSD1c.5927A>C (p.Lys1976Thr)
c.1442A>C (p.Lys481Thr)
n.6383A>C
n.1216A>C
c.6491A>C (p.Lys2164Thr)
n.6197A>C
c.6800A>C (p.Lys2267Thr)
c.5993A>C (p.Lys1998Thr)
c.2294A>C (p.Lys765Thr)
c.6380A>C (p.Lys2127Thr)
c.5744A>C (p.Lys1915Thr)
c.2534A>C (p.Lys845Thr)
5g.177294168A>GCA362326020NSD1c.5927A>G (p.Lys1976Arg)
c.1442A>G (p.Lys481Arg)
n.6383A>G
n.1216A>G
c.6491A>G (p.Lys2164Arg)
n.6197A>G
c.6800A>G (p.Lys2267Arg)
c.5993A>G (p.Lys1998Arg)
c.2294A>G (p.Lys765Arg)
c.6380A>G (p.Lys2127Arg)
c.5744A>G (p.Lys1915Arg)
c.2534A>G (p.Lys845Arg)
5g.177294168A>TCA362326024NSD1c.5927A>T (p.Lys1976Ile)
c.1442A>T (p.Lys481Ile)
n.6383A>T
n.1216A>T
c.6491A>T (p.Lys2164Ile)
n.6197A>T
c.6800A>T (p.Lys2267Ile)
c.5993A>T (p.Lys1998Ile)
c.2294A>T (p.Lys765Ile)
c.6380A>T (p.Lys2127Ile)
c.5744A>T (p.Lys1915Ile)
c.2534A>T (p.Lys845Ile)
 gnomAD v4
5g.177294169A>CCA362326028NSD1c.5928A>C (p.Lys1976Asn)
c.1443A>C (p.Lys481Asn)
n.6384A>C
n.1217A>C
c.6492A>C (p.Lys2164Asn)
n.6198A>C
c.6801A>C (p.Lys2267Asn)
c.5994A>C (p.Lys1998Asn)
c.2295A>C (p.Lys765Asn)
c.6381A>C (p.Lys2127Asn)
c.5745A>C (p.Lys1915Asn)
c.2535A>C (p.Lys845Asn)
5g.177294169A>GCA447961856NSD1c.5928A>G (p.Lys1976=)
c.1443A>G (p.Lys481=)
n.6384A>G
n.1217A>G
c.6492A>G (p.Lys2164=)
n.6198A>G
c.6801A>G (p.Lys2267=)
c.5994A>G (p.Lys1998=)
c.2295A>G (p.Lys765=)
c.6381A>G (p.Lys2127=)
c.5745A>G (p.Lys1915=)
c.2535A>G (p.Lys845=)
5g.177294169A>TCA362326029NSD1c.5928A>T (p.Lys1976Asn)
c.1443A>T (p.Lys481Asn)
n.6384A>T
n.1217A>T
c.6492A>T (p.Lys2164Asn)
n.6198A>T
c.6801A>T (p.Lys2267Asn)
c.5994A>T (p.Lys1998Asn)
c.2295A>T (p.Lys765Asn)
c.6381A>T (p.Lys2127Asn)
c.5745A>T (p.Lys1915Asn)
c.2535A>T (p.Lys845Asn)
 gnomAD v4
5g.177294170G>ACA3578045NSD1c.5929G>A (p.Ala1977Thr)
c.1444G>A (p.Ala482Thr)
n.6385G>A
n.1218G>A
c.6493G>A (p.Ala2165Thr)
n.6199G>A
c.6802G>A (p.Ala2268Thr)
c.5995G>A (p.Ala1999Thr)
c.2296G>A (p.Ala766Thr)
c.6382G>A (p.Ala2128Thr)
c.5746G>A (p.Ala1916Thr)
c.2536G>A (p.Ala846Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177294170G>CCA362326039NSD1c.5929G>C (p.Ala1977Pro)
c.1444G>C (p.Ala482Pro)
n.6385G>C
n.1218G>C
c.6493G>C (p.Ala2165Pro)
n.6199G>C
c.6802G>C (p.Ala2268Pro)
c.5995G>C (p.Ala1999Pro)
c.2296G>C (p.Ala766Pro)
c.6382G>C (p.Ala2128Pro)
c.5746G>C (p.Ala1916Pro)
c.2536G>C (p.Ala846Pro)
5g.177294170G=CA1603535881NSD1c.5929G= (p.Ala1977=)
c.1444G= (p.Ala482=)
n.6385G=
n.1218G=
c.6493G= (p.Ala2165=)
n.6199G=
c.6802G= (p.Ala2268=)
c.5995G= (p.Ala1999=)
c.2296G= (p.Ala766=)
c.6382G= (p.Ala2128=)
c.5746G= (p.Ala1916=)
c.2536G= (p.Ala846=)
5g.177294170G>TCA362326043NSD1c.5929G>T (p.Ala1977Ser)
c.1444G>T (p.Ala482Ser)
n.6385G>T
n.1218G>T
c.6493G>T (p.Ala2165Ser)
n.6199G>T
c.6802G>T (p.Ala2268Ser)
c.5995G>T (p.Ala1999Ser)
c.2296G>T (p.Ala766Ser)
c.6382G>T (p.Ala2128Ser)
c.5746G>T (p.Ala1916Ser)
c.2536G>T (p.Ala846Ser)
5g.177294171C>ACA362326046NSD1c.5930C>A (p.Ala1977Asp)
c.1445C>A (p.Ala482Asp)
n.6386C>A
n.1219C>A
c.6494C>A (p.Ala2165Asp)
n.6200C>A
c.6803C>A (p.Ala2268Asp)
c.5996C>A (p.Ala1999Asp)
c.2297C>A (p.Ala766Asp)
c.6383C>A (p.Ala2128Asp)
c.5747C>A (p.Ala1916Asp)
c.2537C>A (p.Ala846Asp)
 dbSNP
5g.177294171C=CA1603535886NSD1c.5930C= (p.Ala1977=)
c.1445C= (p.Ala482=)
n.6386C=
n.1219C=
c.6494C= (p.Ala2165=)
n.6200C=
c.6803C= (p.Ala2268=)
c.5996C= (p.Ala1999=)
c.2297C= (p.Ala766=)
c.6383C= (p.Ala2128=)
c.5747C= (p.Ala1916=)
c.2537C= (p.Ala846=)
5g.177294171C>GCA362326049NSD1c.5930C>G (p.Ala1977Gly)
c.1445C>G (p.Ala482Gly)
n.6386C>G
n.1219C>G
c.6494C>G (p.Ala2165Gly)
n.6200C>G
c.6803C>G (p.Ala2268Gly)
c.5996C>G (p.Ala1999Gly)
c.2297C>G (p.Ala766Gly)
c.6383C>G (p.Ala2128Gly)
c.5747C>G (p.Ala1916Gly)
c.2537C>G (p.Ala846Gly)
5g.177294171C>TCA3578046NSD1c.5930C>T (p.Ala1977Val)
c.1445C>T (p.Ala482Val)
n.6386C>T
n.1219C>T
c.6494C>T (p.Ala2165Val)
n.6200C>T
c.6803C>T (p.Ala2268Val)
c.5996C>T (p.Ala1999Val)
c.2297C>T (p.Ala766Val)
c.6383C>T (p.Ala2128Val)
c.5747C>T (p.Ala1916Val)
c.2537C>T (p.Ala846Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177294172T>ACA447961857NSD1c.5931T>A (p.Ala1977=)
c.1446T>A (p.Ala482=)
n.6387T>A
n.1220T>A
c.6495T>A (p.Ala2165=)
n.6201T>A
c.6804T>A (p.Ala2268=)
c.5997T>A (p.Ala1999=)
c.2298T>A (p.Ala766=)
c.6384T>A (p.Ala2128=)
c.5748T>A (p.Ala1916=)
c.2538T>A (p.Ala846=)
5g.177294172T>CCA447961858NSD1c.5931T>C (p.Ala1977=)
c.1446T>C (p.Ala482=)
n.6387T>C
n.1220T>C
c.6495T>C (p.Ala2165=)
n.6201T>C
c.6804T>C (p.Ala2268=)
c.5997T>C (p.Ala1999=)
c.2298T>C (p.Ala766=)
c.6384T>C (p.Ala2128=)
c.5748T>C (p.Ala1916=)
c.2538T>C (p.Ala846=)
5g.177294172T>GCA132862632NSD1c.5931T>G (p.Ala1977=)
c.1446T>G (p.Ala482=)
n.6387T>G
n.1220T>G
c.6495T>G (p.Ala2165=)
n.6201T>G
c.6804T>G (p.Ala2268=)
c.5997T>G (p.Ala1999=)
c.2298T>G (p.Ala766=)
c.6384T>G (p.Ala2128=)
c.5748T>G (p.Ala1916=)
c.2538T>G (p.Ala846=)
 ClinVar dbSNP gnomAD v4
5g.177294172T=CA1603535891NSD1c.5931T= (p.Ala1977=)
c.1446T= (p.Ala482=)
n.6387T=
n.1220T=
c.6495T= (p.Ala2165=)
n.6201T=
c.6804T= (p.Ala2268=)
c.5997T= (p.Ala1999=)
c.2298T= (p.Ala766=)
c.6384T= (p.Ala2128=)
c.5748T= (p.Ala1916=)
c.2538T= (p.Ala846=)
5g.177294173C>ACA362326055NSD1c.5932C>A (p.Leu1978Met)
c.1447C>A (p.Leu483Met)
n.6388C>A
n.1221C>A
c.6496C>A (p.Leu2166Met)
n.6202C>A
c.6805C>A (p.Leu2269Met)
c.5998C>A (p.Leu2000Met)
c.2299C>A (p.Leu767Met)
c.6385C>A (p.Leu2129Met)
c.5749C>A (p.Leu1917Met)
c.2539C>A (p.Leu847Met)
5g.177294173C>GCA362326059NSD1c.5932C>G (p.Leu1978Val)
c.1447C>G (p.Leu483Val)
n.6388C>G
n.1221C>G
c.6496C>G (p.Leu2166Val)
n.6202C>G
c.6805C>G (p.Leu2269Val)
c.5998C>G (p.Leu2000Val)
c.2299C>G (p.Leu767Val)
c.6385C>G (p.Leu2129Val)
c.5749C>G (p.Leu1917Val)
c.2539C>G (p.Leu847Val)
 gnomAD v4
5g.177294173C>TCA447961859NSD1c.5932C>T (p.Leu1978=)
c.1447C>T (p.Leu483=)
n.6388C>T
n.1221C>T
c.6496C>T (p.Leu2166=)
n.6202C>T
c.6805C>T (p.Leu2269=)
c.5998C>T (p.Leu2000=)
c.2299C>T (p.Leu767=)
c.6385C>T (p.Leu2129=)
c.5749C>T (p.Leu1917=)
c.2539C>T (p.Leu847=)
5g.177294174T>ACA362326072NSD1c.5933T>A (p.Leu1978Gln)
c.1448T>A (p.Leu483Gln)
n.6389T>A
n.1222T>A
c.6497T>A (p.Leu2166Gln)
n.6203T>A
c.6806T>A (p.Leu2269Gln)
c.5999T>A (p.Leu2000Gln)
c.2300T>A (p.Leu767Gln)
c.6386T>A (p.Leu2129Gln)
c.5750T>A (p.Leu1917Gln)
c.2540T>A (p.Leu847Gln)
5g.177294174T>CCA362326063NSD1c.5933T>C (p.Leu1978Pro)
c.1448T>C (p.Leu483Pro)
n.6389T>C
n.1222T>C
c.6497T>C (p.Leu2166Pro)
n.6203T>C
c.6806T>C (p.Leu2269Pro)
c.5999T>C (p.Leu2000Pro)
c.2300T>C (p.Leu767Pro)
c.6386T>C (p.Leu2129Pro)
c.5750T>C (p.Leu1917Pro)
c.2540T>C (p.Leu847Pro)
5g.177294174T>GCA362326068NSD1c.5933T>G (p.Leu1978Arg)
c.1448T>G (p.Leu483Arg)
n.6389T>G
n.1222T>G
c.6497T>G (p.Leu2166Arg)
n.6203T>G
c.6806T>G (p.Leu2269Arg)
c.5999T>G (p.Leu2000Arg)
c.2300T>G (p.Leu767Arg)
c.6386T>G (p.Leu2129Arg)
c.5750T>G (p.Leu1917Arg)
c.2540T>G (p.Leu847Arg)
5g.177294175G>ACA447961860NSD1c.5934G>A (p.Leu1978=)
c.1449G>A (p.Leu483=)
n.6390G>A
n.1223G>A
c.6498G>A (p.Leu2166=)
n.6204G>A
c.6807G>A (p.Leu2269=)
c.6000G>A (p.Leu2000=)
c.2301G>A (p.Leu767=)
c.6387G>A (p.Leu2129=)
c.5751G>A (p.Leu1917=)
c.2541G>A (p.Leu847=)
5g.177294175G>CCA447961862NSD1c.5934G>C (p.Leu1978=)
c.1449G>C (p.Leu483=)
n.6390G>C
n.1223G>C
c.6498G>C (p.Leu2166=)
n.6204G>C
c.6807G>C (p.Leu2269=)
c.6000G>C (p.Leu2000=)
c.2301G>C (p.Leu767=)
c.6387G>C (p.Leu2129=)
c.5751G>C (p.Leu1917=)
c.2541G>C (p.Leu847=)
5g.177294175G>TCA447961861NSD1c.5934G>T (p.Leu1978=)
c.1449G>T (p.Leu483=)
n.6390G>T
n.1223G>T
c.6498G>T (p.Leu2166=)
n.6204G>T
c.6807G>T (p.Leu2269=)
c.6000G>T (p.Leu2000=)
c.2301G>T (p.Leu767=)
c.6387G>T (p.Leu2129=)
c.5751G>T (p.Leu1917=)
c.2541G>T (p.Leu847=)
5g.177294176G>ACA362326078NSD1c.5935G>A (p.Ala1979Thr)
c.1450G>A (p.Ala484Thr)
n.6391G>A
n.1224G>A
c.6499G>A (p.Ala2167Thr)
n.6205G>A
c.6808G>A (p.Ala2270Thr)
c.6001G>A (p.Ala2001Thr)
c.2302G>A (p.Ala768Thr)
c.6388G>A (p.Ala2130Thr)
c.5752G>A (p.Ala1918Thr)
c.2542G>A (p.Ala848Thr)
5g.177294176G>CCA362326080NSD1c.5935G>C (p.Ala1979Pro)
c.1450G>C (p.Ala484Pro)
n.6391G>C
n.1224G>C
c.6499G>C (p.Ala2167Pro)
n.6205G>C
c.6808G>C (p.Ala2270Pro)
c.6001G>C (p.Ala2001Pro)
c.2302G>C (p.Ala768Pro)
c.6388G>C (p.Ala2130Pro)
c.5752G>C (p.Ala1918Pro)
c.2542G>C (p.Ala848Pro)
5g.177294176G>TCA362326083NSD1c.5935G>T (p.Ala1979Ser)
c.1450G>T (p.Ala484Ser)
n.6391G>T
n.1224G>T
c.6499G>T (p.Ala2167Ser)
n.6205G>T
c.6808G>T (p.Ala2270Ser)
c.6001G>T (p.Ala2001Ser)
c.2302G>T (p.Ala768Ser)
c.6388G>T (p.Ala2130Ser)
c.5752G>T (p.Ala1918Ser)
c.2542G>T (p.Ala848Ser)
5g.177294177C>ACA362326089NSD1c.5936C>A (p.Ala1979Glu)
c.1451C>A (p.Ala484Glu)
n.6392C>A
n.1225C>A
c.6500C>A (p.Ala2167Glu)
n.6206C>A
c.6809C>A (p.Ala2270Glu)
c.6002C>A (p.Ala2001Glu)
c.2303C>A (p.Ala768Glu)
c.6389C>A (p.Ala2130Glu)
c.5753C>A (p.Ala1918Glu)
c.2543C>A (p.Ala848Glu)
5g.177294177C>GCA362326091NSD1c.5936C>G (p.Ala1979Gly)
c.1451C>G (p.Ala484Gly)
n.6392C>G
n.1225C>G
c.6500C>G (p.Ala2167Gly)
n.6206C>G
c.6809C>G (p.Ala2270Gly)
c.6002C>G (p.Ala2001Gly)
c.2303C>G (p.Ala768Gly)
c.6389C>G (p.Ala2130Gly)
c.5753C>G (p.Ala1918Gly)
c.2543C>G (p.Ala848Gly)
5g.177294177C>TCA362326094NSD1c.5936C>T (p.Ala1979Val)
c.1451C>T (p.Ala484Val)
n.6392C>T
n.1225C>T
c.6500C>T (p.Ala2167Val)
n.6206C>T
c.6809C>T (p.Ala2270Val)
c.6002C>T (p.Ala2001Val)
c.2303C>T (p.Ala768Val)
c.6389C>T (p.Ala2130Val)
c.5753C>T (p.Ala1918Val)
c.2543C>T (p.Ala848Val)
 dbSNP
5g.177294178A>CCA447961863NSD1c.5937A>C (p.Ala1979=)
c.1452A>C (p.Ala484=)
n.6393A>C
n.1226A>C
c.6501A>C (p.Ala2167=)
n.6207A>C
c.6810A>C (p.Ala2270=)
c.6003A>C (p.Ala2001=)
c.2304A>C (p.Ala768=)
c.6390A>C (p.Ala2130=)
c.5754A>C (p.Ala1918=)
c.2544A>C (p.Ala848=)
5g.177294178A>GCA447961864NSD1c.5937A>G (p.Ala1979=)
c.1452A>G (p.Ala484=)
n.6393A>G
n.1226A>G
c.6501A>G (p.Ala2167=)
n.6207A>G
c.6810A>G (p.Ala2270=)
c.6003A>G (p.Ala2001=)
c.2304A>G (p.Ala768=)
c.6390A>G (p.Ala2130=)
c.5754A>G (p.Ala1918=)
c.2544A>G (p.Ala848=)
 gnomAD v4
5g.177294178A>TCA447961866NSD1c.5937A>T (p.Ala1979=)
c.1452A>T (p.Ala484=)
n.6393A>T
n.1226A>T
c.6501A>T (p.Ala2167=)
n.6207A>T
c.6810A>T (p.Ala2270=)
c.6003A>T (p.Ala2001=)
c.2304A>T (p.Ala768=)
c.6390A>T (p.Ala2130=)
c.5754A>T (p.Ala1918=)
c.2544A>T (p.Ala848=)
5g.177294179G>ACA362326099NSD1c.5938G>A (p.Gly1980Arg)
c.1453G>A (p.Gly485Arg)
n.6394G>A
n.1227G>A
c.6502G>A (p.Gly2168Arg)
n.6208G>A
c.6811G>A (p.Gly2271Arg)
c.6004G>A (p.Gly2002Arg)
c.2305G>A (p.Gly769Arg)
c.6391G>A (p.Gly2131Arg)
c.5755G>A (p.Gly1919Arg)
c.2545G>A (p.Gly849Arg)
5g.177294179G>CCA362326100NSD1c.5938G>C (p.Gly1980Arg)
c.1453G>C (p.Gly485Arg)
n.6394G>C
n.1227G>C
c.6502G>C (p.Gly2168Arg)
n.6208G>C
c.6811G>C (p.Gly2271Arg)
c.6004G>C (p.Gly2002Arg)
c.2305G>C (p.Gly769Arg)
c.6391G>C (p.Gly2131Arg)
c.5755G>C (p.Gly1919Arg)
c.2545G>C (p.Gly849Arg)
5g.177294179G>TCA362326101NSD1c.5938G>T (p.Gly1980Trp)
c.1453G>T (p.Gly485Trp)
n.6394G>T
n.1227G>T
c.6502G>T (p.Gly2168Trp)
n.6208G>T
c.6811G>T (p.Gly2271Trp)
c.6004G>T (p.Gly2002Trp)
c.2305G>T (p.Gly769Trp)
c.6391G>T (p.Gly2131Trp)
c.5755G>T (p.Gly1919Trp)
c.2545G>T (p.Gly849Trp)
5g.177294180G>ACA362326102NSD1c.5939G>A (p.Gly1980Glu)
c.1454G>A (p.Gly485Glu)
n.6395G>A
n.1228G>A
c.6503G>A (p.Gly2168Glu)
n.6209G>A
c.6812G>A (p.Gly2271Glu)
c.6005G>A (p.Gly2002Glu)
c.2306G>A (p.Gly769Glu)
c.6392G>A (p.Gly2131Glu)
c.5756G>A (p.Gly1919Glu)
c.2546G>A (p.Gly849Glu)
5g.177294180G>CCA362326103NSD1c.5939G>C (p.Gly1980Ala)
c.1454G>C (p.Gly485Ala)
n.6395G>C
n.1228G>C
c.6503G>C (p.Gly2168Ala)
n.6209G>C
c.6812G>C (p.Gly2271Ala)
c.6005G>C (p.Gly2002Ala)
c.2306G>C (p.Gly769Ala)
c.6392G>C (p.Gly2131Ala)
c.5756G>C (p.Gly1919Ala)
c.2546G>C (p.Gly849Ala)
5g.177294180G>TCA362326106NSD1c.5939G>T (p.Gly1980Val)
c.1454G>T (p.Gly485Val)
n.6395G>T
n.1228G>T
c.6503G>T (p.Gly2168Val)
n.6209G>T
c.6812G>T (p.Gly2271Val)
c.6005G>T (p.Gly2002Val)
c.2306G>T (p.Gly769Val)
c.6392G>T (p.Gly2131Val)
c.5756G>T (p.Gly1919Val)
c.2546G>T (p.Gly849Val)
 gnomAD v4
5g.177294181G>ACA447961870NSD1c.5940G>A (p.Gly1980=)
c.1455G>A (p.Gly485=)
n.6396G>A
n.1229G>A
c.6504G>A (p.Gly2168=)
n.6210G>A
c.6813G>A (p.Gly2271=)
c.6006G>A (p.Gly2002=)
c.2307G>A (p.Gly769=)
c.6393G>A (p.Gly2131=)
c.5757G>A (p.Gly1919=)
c.2547G>A (p.Gly849=)
5g.177294181G>CCA447961873NSD1c.5940G>C (p.Gly1980=)
c.1455G>C (p.Gly485=)
n.6396G>C
n.1229G>C
c.6504G>C (p.Gly2168=)
n.6210G>C
c.6813G>C (p.Gly2271=)
c.6006G>C (p.Gly2002=)
c.2307G>C (p.Gly769=)
c.6393G>C (p.Gly2131=)
c.5757G>C (p.Gly1919=)
c.2547G>C (p.Gly849=)
5g.177294181G>TCA447961871NSD1c.5940G>T (p.Gly1980=)
c.1455G>T (p.Gly485=)
n.6396G>T
n.1229G>T
c.6504G>T (p.Gly2168=)
n.6210G>T
c.6813G>T (p.Gly2271=)
c.6006G>T (p.Gly2002=)
c.2307G>T (p.Gly769=)
c.6393G>T (p.Gly2131=)
c.5757G>T (p.Gly1919=)
c.2547G>T (p.Gly849=)
 gnomAD v4
5g.177294182A=CA1603535895NSD1c.5941A= (p.Thr1981=)
c.1456A= (p.Thr486=)
n.6397A=
n.1230A=
c.6505A= (p.Thr2169=)
n.6211A=
c.6814A= (p.Thr2272=)
c.6007A= (p.Thr2003=)
c.2308A= (p.Thr770=)
c.6394A= (p.Thr2132=)
c.5758A= (p.Thr1920=)
c.2548A= (p.Thr850=)
5g.177294182A>CCA362326109NSD1c.5941A>C (p.Thr1981Pro)
c.1456A>C (p.Thr486Pro)
n.6397A>C
n.1230A>C
c.6505A>C (p.Thr2169Pro)
n.6211A>C
c.6814A>C (p.Thr2272Pro)
c.6007A>C (p.Thr2003Pro)
c.2308A>C (p.Thr770Pro)
c.6394A>C (p.Thr2132Pro)
c.5758A>C (p.Thr1920Pro)
c.2548A>C (p.Thr850Pro)
5g.177294182A>GCA3578047NSD1c.5941A>G (p.Thr1981Ala)
c.1456A>G (p.Thr486Ala)
n.6397A>G
n.1230A>G
c.6505A>G (p.Thr2169Ala)
n.6211A>G
c.6814A>G (p.Thr2272Ala)
c.6007A>G (p.Thr2003Ala)
c.2308A>G (p.Thr770Ala)
c.6394A>G (p.Thr2132Ala)
c.5758A>G (p.Thr1920Ala)
c.2548A>G (p.Thr850Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177294182A>TCA362326110NSD1c.5941A>T (p.Thr1981Ser)
c.1456A>T (p.Thr486Ser)
n.6397A>T
n.1230A>T
c.6505A>T (p.Thr2169Ser)
n.6211A>T
c.6814A>T (p.Thr2272Ser)
c.6007A>T (p.Thr2003Ser)
c.2308A>T (p.Thr770Ser)
c.6394A>T (p.Thr2132Ser)
c.5758A>T (p.Thr1920Ser)
c.2548A>T (p.Thr850Ser)
5g.177294183C>ACA362326111NSD1c.5942C>A (p.Thr1981Asn)
c.1457C>A (p.Thr486Asn)
n.6398C>A
n.1231C>A
c.6506C>A (p.Thr2169Asn)
n.6212C>A
c.6815C>A (p.Thr2272Asn)
c.6008C>A (p.Thr2003Asn)
c.2309C>A (p.Thr770Asn)
c.6395C>A (p.Thr2132Asn)
c.5759C>A (p.Thr1920Asn)
c.2549C>A (p.Thr850Asn)
5g.177294183C>GCA362326115NSD1c.5942C>G (p.Thr1981Ser)
c.1457C>G (p.Thr486Ser)
n.6398C>G
n.1231C>G
c.6506C>G (p.Thr2169Ser)
n.6212C>G
c.6815C>G (p.Thr2272Ser)
c.6008C>G (p.Thr2003Ser)
c.2309C>G (p.Thr770Ser)
c.6395C>G (p.Thr2132Ser)
c.5759C>G (p.Thr1920Ser)
c.2549C>G (p.Thr850Ser)
5g.177294183C>TCA362326112NSD1c.5942C>T (p.Thr1981Ile)
c.1457C>T (p.Thr486Ile)
n.6398C>T
n.1231C>T
c.6506C>T (p.Thr2169Ile)
n.6212C>T
c.6815C>T (p.Thr2272Ile)
c.6008C>T (p.Thr2003Ile)
c.2309C>T (p.Thr770Ile)
c.6395C>T (p.Thr2132Ile)
c.5759C>T (p.Thr1920Ile)
c.2549C>T (p.Thr850Ile)
 dbSNP
5g.177294184T>ACA447961878NSD1c.5943T>A (p.Thr1981=)
c.1458T>A (p.Thr486=)
n.6399T>A
n.1232T>A
c.6507T>A (p.Thr2169=)
n.6213T>A
c.6816T>A (p.Thr2272=)
c.6009T>A (p.Thr2003=)
c.2310T>A (p.Thr770=)
c.6396T>A (p.Thr2132=)
c.5760T>A (p.Thr1920=)
c.2550T>A (p.Thr850=)
5g.177294184T>CCA447961879NSD1c.5943T>C (p.Thr1981=)
c.1458T>C (p.Thr486=)
n.6399T>C
n.1232T>C
c.6507T>C (p.Thr2169=)
n.6213T>C
c.6816T>C (p.Thr2272=)
c.6009T>C (p.Thr2003=)
c.2310T>C (p.Thr770=)
c.6396T>C (p.Thr2132=)
c.5760T>C (p.Thr1920=)
c.2550T>C (p.Thr850=)
5g.177294184T>GCA447961880NSD1c.5943T>G (p.Thr1981=)
c.1458T>G (p.Thr486=)
n.6399T>G
n.1232T>G
c.6507T>G (p.Thr2169=)
n.6213T>G
c.6816T>G (p.Thr2272=)
c.6009T>G (p.Thr2003=)
c.2310T>G (p.Thr770=)
c.6396T>G (p.Thr2132=)
c.5760T>G (p.Thr1920=)
c.2550T>G (p.Thr850=)
5g.177294185T>ACA362326119NSD1c.5944T>A (p.Cys1982Ser)
c.1459T>A (p.Cys487Ser)
n.6400T>A
n.1233T>A
c.6508T>A (p.Cys2170Ser)
n.6214T>A
c.6817T>A (p.Cys2273Ser)
c.6010T>A (p.Cys2004Ser)
c.2311T>A (p.Cys771Ser)
c.6397T>A (p.Cys2133Ser)
c.5761T>A (p.Cys1921Ser)
c.2551T>A (p.Cys851Ser)
5g.177294185T>CCA362326121NSD1c.5944T>C (p.Cys1982Arg)
c.1459T>C (p.Cys487Arg)
n.6400T>C
n.1233T>C
c.6508T>C (p.Cys2170Arg)
n.6214T>C
c.6817T>C (p.Cys2273Arg)
c.6010T>C (p.Cys2004Arg)
c.2311T>C (p.Cys771Arg)
c.6397T>C (p.Cys2133Arg)
c.5761T>C (p.Cys1921Arg)
c.2551T>C (p.Cys851Arg)
 dbSNP
5g.177294185T>GCA362326120NSD1c.5944T>G (p.Cys1982Gly)
c.1459T>G (p.Cys487Gly)
n.6400T>G
n.1233T>G
c.6508T>G (p.Cys2170Gly)
n.6214T>G
c.6817T>G (p.Cys2273Gly)
c.6010T>G (p.Cys2004Gly)
c.2311T>G (p.Cys771Gly)
c.6397T>G (p.Cys2133Gly)
c.5761T>G (p.Cys1921Gly)
c.2551T>G (p.Cys851Gly)
 COSMIC COSMIC
5g.177294185T=CA1603535897NSD1c.5944T= (p.Cys1982=)
c.1459T= (p.Cys487=)
n.6400T=
n.1233T=
c.6508T= (p.Cys2170=)
n.6214T=
c.6817T= (p.Cys2273=)
c.6010T= (p.Cys2004=)
c.2311T= (p.Cys771=)
c.6397T= (p.Cys2133=)
c.5761T= (p.Cys1921=)
c.2551T= (p.Cys851=)
5g.177294186G>ACA362326122NSD1c.5945G>A (p.Cys1982Tyr)
c.1460G>A (p.Cys487Tyr)
n.6401G>A
n.1234G>A
c.6509G>A (p.Cys2170Tyr)
n.6215G>A
c.6818G>A (p.Cys2273Tyr)
c.6011G>A (p.Cys2004Tyr)
c.2312G>A (p.Cys771Tyr)
c.6398G>A (p.Cys2133Tyr)
c.5762G>A (p.Cys1921Tyr)
c.2552G>A (p.Cys851Tyr)
5g.177294186G>CCA362326127NSD1c.5945G>C (p.Cys1982Ser)
c.1460G>C (p.Cys487Ser)
n.6401G>C
n.1234G>C
c.6509G>C (p.Cys2170Ser)
n.6215G>C
c.6818G>C (p.Cys2273Ser)
c.6011G>C (p.Cys2004Ser)
c.2312G>C (p.Cys771Ser)
c.6398G>C (p.Cys2133Ser)
c.5762G>C (p.Cys1921Ser)
c.2552G>C (p.Cys851Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177294186G=CA1603535906NSD1c.5945G= (p.Cys1982=)
c.1460G= (p.Cys487=)
n.6401G=
n.1234G=
c.6509G= (p.Cys2170=)
n.6215G=
c.6818G= (p.Cys2273=)
c.6011G= (p.Cys2004=)
c.2312G= (p.Cys771=)
c.6398G= (p.Cys2133=)
c.5762G= (p.Cys1921=)
c.2552G= (p.Cys851=)
5g.177294186G>TCA362326124NSD1c.5945G>T (p.Cys1982Phe)
c.1460G>T (p.Cys487Phe)
n.6401G>T
n.1234G>T
c.6509G>T (p.Cys2170Phe)
n.6215G>T
c.6818G>T (p.Cys2273Phe)
c.6011G>T (p.Cys2004Phe)
c.2312G>T (p.Cys771Phe)
c.6398G>T (p.Cys2133Phe)
c.5762G>T (p.Cys1921Phe)
c.2552G>T (p.Cys851Phe)
5g.177294187T>ACA362326129NSD1c.5946T>A (p.Cys1982Ter)
c.1461T>A (p.Cys487Ter)
n.6402T>A
n.1235T>A
c.6510T>A (p.Cys2170Ter)
n.6216T>A
c.6819T>A (p.Cys2273Ter)
c.6012T>A (p.Cys2004Ter)
c.2313T>A (p.Cys771Ter)
c.6399T>A (p.Cys2133Ter)
c.5763T>A (p.Cys1921Ter)
c.2553T>A (p.Cys851Ter)
 dbSNP
5g.177294187T>CCA447961884NSD1c.5946T>C (p.Cys1982=)
c.1461T>C (p.Cys487=)
n.6402T>C
n.1235T>C
c.6510T>C (p.Cys2170=)
n.6216T>C
c.6819T>C (p.Cys2273=)
c.6012T>C (p.Cys2004=)
c.2313T>C (p.Cys771=)
c.6399T>C (p.Cys2133=)
c.5763T>C (p.Cys1921=)
c.2553T>C (p.Cys851=)
 dbSNP gnomAD v3 gnomAD v4
5g.177294187T>GCA362326133NSD1c.5946T>G (p.Cys1982Trp)
c.1461T>G (p.Cys487Trp)
n.6402T>G
n.1235T>G
c.6510T>G (p.Cys2170Trp)
n.6216T>G
c.6819T>G (p.Cys2273Trp)
c.6012T>G (p.Cys2004Trp)
c.2313T>G (p.Cys771Trp)
c.6399T>G (p.Cys2133Trp)
c.5763T>G (p.Cys1921Trp)
c.2553T>G (p.Cys851Trp)
5g.177294187T=CA1603535909NSD1c.5946T= (p.Cys1982=)
c.1461T= (p.Cys487=)
n.6402T=
n.1235T=
c.6510T= (p.Cys2170=)
n.6216T=
c.6819T= (p.Cys2273=)
c.6012T= (p.Cys2004=)
c.2313T= (p.Cys771=)
c.6399T= (p.Cys2133=)
c.5763T= (p.Cys1921=)
c.2553T= (p.Cys851=)
5g.177294188C>ACA362326134NSD1c.5947C>A (p.Gln1983Lys)
c.1462C>A (p.Gln488Lys)
n.6403C>A
n.1236C>A
c.6511C>A (p.Gln2171Lys)
n.6217C>A
c.6820C>A (p.Gln2274Lys)
c.6013C>A (p.Gln2005Lys)
c.2314C>A (p.Gln772Lys)
c.6400C>A (p.Gln2134Lys)
c.5764C>A (p.Gln1922Lys)
c.2554C>A (p.Gln852Lys)
5g.177294188C>GCA362326135NSD1c.5947C>G (p.Gln1983Glu)
c.1462C>G (p.Gln488Glu)
n.6403C>G
n.1236C>G
c.6511C>G (p.Gln2171Glu)
n.6217C>G
c.6820C>G (p.Gln2274Glu)
c.6013C>G (p.Gln2005Glu)
c.2314C>G (p.Gln772Glu)
c.6400C>G (p.Gln2134Glu)
c.5764C>G (p.Gln1922Glu)
c.2554C>G (p.Gln852Glu)
5g.177294188C>TCA362326136NSD1c.5947C>T (p.Gln1983Ter)
c.1462C>T (p.Gln488Ter)
n.6403C>T
n.1236C>T
c.6511C>T (p.Gln2171Ter)
n.6217C>T
c.6820C>T (p.Gln2274Ter)
c.6013C>T (p.Gln2005Ter)
c.2314C>T (p.Gln772Ter)
c.6400C>T (p.Gln2134Ter)
c.5764C>T (p.Gln1922Ter)
c.2554C>T (p.Gln852Ter)
5g.177294189A=CA1603535913NSD1c.5948A= (p.Gln1983=)
c.1463A= (p.Gln488=)
n.6404A=
n.1237A=
c.6512A= (p.Gln2171=)
n.6218A=
c.6821A= (p.Gln2274=)
c.6014A= (p.Gln2005=)
c.2315A= (p.Gln772=)
c.6401A= (p.Gln2134=)
c.5765A= (p.Gln1922=)
c.2555A= (p.Gln852=)
5g.177294189A>CCA362326142NSD1c.5948A>C (p.Gln1983Pro)
c.1463A>C (p.Gln488Pro)
n.6404A>C
n.1237A>C
c.6512A>C (p.Gln2171Pro)
n.6218A>C
c.6821A>C (p.Gln2274Pro)
c.6014A>C (p.Gln2005Pro)
c.2315A>C (p.Gln772Pro)
c.6401A>C (p.Gln2134Pro)
c.5765A>C (p.Gln1922Pro)
c.2555A>C (p.Gln852Pro)
5g.177294189A>GCA362326143NSD1c.5948A>G (p.Gln1983Arg)
c.1463A>G (p.Gln488Arg)
n.6404A>G
n.1237A>G
c.6512A>G (p.Gln2171Arg)
n.6218A>G
c.6821A>G (p.Gln2274Arg)
c.6014A>G (p.Gln2005Arg)
c.2315A>G (p.Gln772Arg)
c.6401A>G (p.Gln2134Arg)
c.5765A>G (p.Gln1922Arg)
c.2555A>G (p.Gln852Arg)
 dbSNP gnomAD v4
5g.177294189A>TCA362326148NSD1c.5948A>T (p.Gln1983Leu)
c.1463A>T (p.Gln488Leu)
n.6404A>T
n.1237A>T
c.6512A>T (p.Gln2171Leu)
n.6218A>T
c.6821A>T (p.Gln2274Leu)
c.6014A>T (p.Gln2005Leu)
c.2315A>T (p.Gln772Leu)
c.6401A>T (p.Gln2134Leu)
c.5765A>T (p.Gln1922Leu)
c.2555A>T (p.Gln852Leu)
5g.177294190G>ACA447961889NSD1c.5949G>A (p.Gln1983=)
c.1464G>A (p.Gln488=)
n.6405G>A
n.1238G>A
c.6513G>A (p.Gln2171=)
n.6219G>A
c.6822G>A (p.Gln2274=)
c.6015G>A (p.Gln2005=)
c.2316G>A (p.Gln772=)
c.6402G>A (p.Gln2134=)
c.5766G>A (p.Gln1922=)
c.2556G>A (p.Gln852=)
5g.177294190G>CCA362326150NSD1c.5949G>C (p.Gln1983His)
c.1464G>C (p.Gln488His)
n.6405G>C
n.1238G>C
c.6513G>C (p.Gln2171His)
n.6219G>C
c.6822G>C (p.Gln2274His)
c.6015G>C (p.Gln2005His)
c.2316G>C (p.Gln772His)
c.6402G>C (p.Gln2134His)
c.5766G>C (p.Gln1922His)
c.2556G>C (p.Gln852His)
 dbSNP
5g.177294190G>TCA362326154NSD1c.5949G>T (p.Gln1983His)
c.1464G>T (p.Gln488His)
n.6405G>T
n.1238G>T
c.6513G>T (p.Gln2171His)
n.6219G>T
c.6822G>T (p.Gln2274His)
c.6015G>T (p.Gln2005His)
c.2316G>T (p.Gln772His)
c.6402G>T (p.Gln2134His)
c.5766G>T (p.Gln1922His)
c.2556G>T (p.Gln852His)
5g.177294191A>CCA447961890NSD1c.5950A>C (p.Arg1984=)
c.1465A>C (p.Arg489=)
n.6406A>C
n.1239A>C
c.6514A>C (p.Arg2172=)
n.6220A>C
c.6823A>C (p.Arg2275=)
c.6016A>C (p.Arg2006=)
c.2317A>C (p.Arg773=)
c.6403A>C (p.Arg2135=)
c.5767A>C (p.Arg1923=)
c.2557A>C (p.Arg853=)
5g.177294191A>GCA362326159NSD1c.5950A>G (p.Arg1984Gly)
c.1465A>G (p.Arg489Gly)
n.6406A>G
n.1239A>G
c.6514A>G (p.Arg2172Gly)
n.6220A>G
c.6823A>G (p.Arg2275Gly)
c.6016A>G (p.Arg2006Gly)
c.2317A>G (p.Arg773Gly)
c.6403A>G (p.Arg2135Gly)
c.5767A>G (p.Arg1923Gly)
c.2557A>G (p.Arg853Gly)
5g.177294191A>TCA362326157NSD1c.5950A>T (p.Arg1984Trp)
c.1465A>T (p.Arg489Trp)
n.6406A>T
n.1239A>T
c.6514A>T (p.Arg2172Trp)
n.6220A>T
c.6823A>T (p.Arg2275Trp)
c.6016A>T (p.Arg2006Trp)
c.2317A>T (p.Arg773Trp)
c.6403A>T (p.Arg2135Trp)
c.5767A>T (p.Arg1923Trp)
c.2557A>T (p.Arg853Trp)
 dbSNP
5g.177294192G>ACA362326175NSD1c.5951G>A (p.Arg1984Lys)
c.1466G>A (p.Arg489Lys)
n.6407G>A
n.1240G>A
c.6515G>A (p.Arg2172Lys)
n.6221G>A
c.6824G>A (p.Arg2275Lys)
c.6017G>A (p.Arg2006Lys)
c.2318G>A (p.Arg773Lys)
c.6404G>A (p.Arg2135Lys)
c.5768G>A (p.Arg1923Lys)
c.2558G>A (p.Arg853Lys)
 ClinVar gnomAD v4
5g.177294192G>CCA362326180NSD1c.5951G>C (p.Arg1984Thr)
c.1466G>C (p.Arg489Thr)
n.6407G>C
n.1240G>C
c.6515G>C (p.Arg2172Thr)
n.6221G>C
c.6824G>C (p.Arg2275Thr)
c.6017G>C (p.Arg2006Thr)
c.2318G>C (p.Arg773Thr)
c.6404G>C (p.Arg2135Thr)
c.5768G>C (p.Arg1923Thr)
c.2558G>C (p.Arg853Thr)
5g.177294192G>TCA362326181NSD1c.5951G>T (p.Arg1984Met)
c.1466G>T (p.Arg489Met)
n.6407G>T
n.1240G>T
c.6515G>T (p.Arg2172Met)
n.6221G>T
c.6824G>T (p.Arg2275Met)
c.6017G>T (p.Arg2006Met)
c.2318G>T (p.Arg773Met)
c.6404G>T (p.Arg2135Met)
c.5768G>T (p.Arg1923Met)
c.2558G>T (p.Arg853Met)
5g.177294193G>ACA447961892NSD1c.5952G>A (p.Arg1984=)
c.1467G>A (p.Arg489=)
n.6408G>A
n.1241G>A
c.6516G>A (p.Arg2172=)
n.6222G>A
c.6825G>A (p.Arg2275=)
c.6018G>A (p.Arg2006=)
c.2319G>A (p.Arg773=)
c.6405G>A (p.Arg2135=)
c.5769G>A (p.Arg1923=)
c.2559G>A (p.Arg853=)
5g.177294193G>CCA362326197NSD1c.5952G>C (p.Arg1984Ser)
c.1467G>C (p.Arg489Ser)
n.6408G>C
n.1241G>C
c.6516G>C (p.Arg2172Ser)
n.6222G>C
c.6825G>C (p.Arg2275Ser)
c.6018G>C (p.Arg2006Ser)
c.2319G>C (p.Arg773Ser)
c.6405G>C (p.Arg2135Ser)
c.5769G>C (p.Arg1923Ser)
c.2559G>C (p.Arg853Ser)
5g.177294193G>TCA362326201NSD1c.5952G>T (p.Arg1984Ser)
c.1467G>T (p.Arg489Ser)
n.6408G>T
n.1241G>T
c.6516G>T (p.Arg2172Ser)
n.6222G>T
c.6825G>T (p.Arg2275Ser)
c.6018G>T (p.Arg2006Ser)
c.2319G>T (p.Arg773Ser)
c.6405G>T (p.Arg2135Ser)
c.5769G>T (p.Arg1923Ser)
c.2559G>T (p.Arg853Ser)
5g.177294194C>ACA362326203NSD1c.5953C>A (p.Pro1985Thr)
c.1468C>A (p.Pro490Thr)
n.6409C>A
n.1242C>A
c.6517C>A (p.Pro2173Thr)
n.6223C>A
c.6826C>A (p.Pro2276Thr)
c.6019C>A (p.Pro2007Thr)
c.2320C>A (p.Pro774Thr)
c.6406C>A (p.Pro2136Thr)
c.5770C>A (p.Pro1924Thr)
c.2560C>A (p.Pro854Thr)
 dbSNP
5g.177294194C>GCA362326207NSD1c.5953C>G (p.Pro1985Ala)
c.1468C>G (p.Pro490Ala)
n.6409C>G
n.1242C>G
c.6517C>G (p.Pro2173Ala)
n.6223C>G
c.6826C>G (p.Pro2276Ala)
c.6019C>G (p.Pro2007Ala)
c.2320C>G (p.Pro774Ala)
c.6406C>G (p.Pro2136Ala)
c.5770C>G (p.Pro1924Ala)
c.2560C>G (p.Pro854Ala)
5g.177294194C>TCA362326211NSD1c.5953C>T (p.Pro1985Ser)
c.1468C>T (p.Pro490Ser)
n.6409C>T
n.1242C>T
c.6517C>T (p.Pro2173Ser)
n.6223C>T
c.6826C>T (p.Pro2276Ser)
c.6019C>T (p.Pro2007Ser)
c.2320C>T (p.Pro774Ser)
c.6406C>T (p.Pro2136Ser)
c.5770C>T (p.Pro1924Ser)
c.2560C>T (p.Pro854Ser)
5g.177294195C>ACA362326215NSD1c.5954C>A (p.Pro1985Gln)
c.1469C>A (p.Pro490Gln)
n.6410C>A
n.1243C>A
c.6518C>A (p.Pro2173Gln)
n.6224C>A
c.6827C>A (p.Pro2276Gln)
c.6020C>A (p.Pro2007Gln)
c.2321C>A (p.Pro774Gln)
c.6407C>A (p.Pro2136Gln)
c.5771C>A (p.Pro1924Gln)
c.2561C>A (p.Pro854Gln)
5g.177294195C>GCA362326224NSD1c.5954C>G (p.Pro1985Arg)
c.1469C>G (p.Pro490Arg)
n.6410C>G
n.1243C>G
c.6518C>G (p.Pro2173Arg)
n.6224C>G
c.6827C>G (p.Pro2276Arg)
c.6020C>G (p.Pro2007Arg)
c.2321C>G (p.Pro774Arg)
c.6407C>G (p.Pro2136Arg)
c.5771C>G (p.Pro1924Arg)
c.2561C>G (p.Pro854Arg)
5g.177294195C>TCA362326227NSD1c.5954C>T (p.Pro1985Leu)
c.1469C>T (p.Pro490Leu)
n.6410C>T
n.1243C>T
c.6518C>T (p.Pro2173Leu)
n.6224C>T
c.6827C>T (p.Pro2276Leu)
c.6020C>T (p.Pro2007Leu)
c.2321C>T (p.Pro774Leu)
c.6407C>T (p.Pro2136Leu)
c.5771C>T (p.Pro1924Leu)
c.2561C>T (p.Pro854Leu)
5g.177294196A>CCA447961899NSD1c.5955A>C (p.Pro1985=)
c.1470A>C (p.Pro490=)
n.6411A>C
n.1244A>C
c.6519A>C (p.Pro2173=)
n.6225A>C
c.6828A>C (p.Pro2276=)
c.6021A>C (p.Pro2007=)
c.2322A>C (p.Pro774=)
c.6408A>C (p.Pro2136=)
c.5772A>C (p.Pro1924=)
c.2562A>C (p.Pro854=)
5g.177294196A>GCA447961900NSD1c.5955A>G (p.Pro1985=)
c.1470A>G (p.Pro490=)
n.6411A>G
n.1244A>G
c.6519A>G (p.Pro2173=)
n.6225A>G
c.6828A>G (p.Pro2276=)
c.6021A>G (p.Pro2007=)
c.2322A>G (p.Pro774=)
c.6408A>G (p.Pro2136=)
c.5772A>G (p.Pro1924=)
c.2562A>G (p.Pro854=)
5g.177294196A>TCA447961901NSD1c.5955A>T (p.Pro1985=)
c.1470A>T (p.Pro490=)
n.6411A>T
n.1244A>T
c.6519A>T (p.Pro2173=)
n.6225A>T
c.6828A>T (p.Pro2276=)
c.6021A>T (p.Pro2007=)
c.2322A>T (p.Pro774=)
c.6408A>T (p.Pro2136=)
c.5772A>T (p.Pro1924=)
c.2562A>T (p.Pro854=)
5g.177294197T>ACA3578048NSD1c.5956T>A (p.Leu1986Met)
c.1471T>A (p.Leu491Met)
n.6412T>A
n.1245T>A
c.6520T>A (p.Leu2174Met)
n.6226T>A
c.6829T>A (p.Leu2277Met)
c.6022T>A (p.Leu2008Met)
c.2323T>A (p.Leu775Met)
c.6409T>A (p.Leu2137Met)
c.5773T>A (p.Leu1925Met)
c.2563T>A (p.Leu855Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294197T>CCA149212NSD1c.5956T>C (p.Leu1986=)
c.1471T>C (p.Leu491=)
n.6412T>C
n.1245T>C
c.6520T>C (p.Leu2174=)
n.6226T>C
c.6829T>C (p.Leu2277=)
c.6022T>C (p.Leu2008=)
c.2323T>C (p.Leu775=)
c.6409T>C (p.Leu2137=)
c.5773T>C (p.Leu1925=)
c.2563T>C (p.Leu855=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177294197T>GCA362326232NSD1c.5956T>G (p.Leu1986Val)
c.1471T>G (p.Leu491Val)
n.6412T>G
n.1245T>G
c.6520T>G (p.Leu2174Val)
n.6226T>G
c.6829T>G (p.Leu2277Val)
c.6022T>G (p.Leu2008Val)
c.2323T>G (p.Leu775Val)
c.6409T>G (p.Leu2137Val)
c.5773T>G (p.Leu1925Val)
c.2563T>G (p.Leu855Val)
 dbSNP
5g.177294197T=CA1603535919NSD1c.5956T= (p.Leu1986=)
c.1471T= (p.Leu491=)
n.6412T=
n.1245T=
c.6520T= (p.Leu2174=)
n.6226T=
c.6829T= (p.Leu2277=)
c.6022T= (p.Leu2008=)
c.2323T= (p.Leu775=)
c.6409T= (p.Leu2137=)
c.5773T= (p.Leu1925=)
c.2563T= (p.Leu855=)
5g.177294198T>ACA362326241NSD1c.5957T>A (p.Leu1986Ter)
c.1472T>A (p.Leu491Ter)
n.6413T>A
n.1246T>A
c.6521T>A (p.Leu2174Ter)
n.6227T>A
c.6830T>A (p.Leu2277Ter)
c.6023T>A (p.Leu2008Ter)
c.2324T>A (p.Leu775Ter)
c.6410T>A (p.Leu2137Ter)
c.5774T>A (p.Leu1925Ter)
c.2564T>A (p.Leu855Ter)
5g.177294198T>CCA362326245NSD1c.5957T>C (p.Leu1986Ser)
c.1472T>C (p.Leu491Ser)
n.6413T>C
n.1246T>C
c.6521T>C (p.Leu2174Ser)
n.6227T>C
c.6830T>C (p.Leu2277Ser)
c.6023T>C (p.Leu2008Ser)
c.2324T>C (p.Leu775Ser)
c.6410T>C (p.Leu2137Ser)
c.5774T>C (p.Leu1925Ser)
c.2564T>C (p.Leu855Ser)
5g.177294198T>GCA362326248NSD1c.5957T>G (p.Leu1986Trp)
c.1472T>G (p.Leu491Trp)
n.6413T>G
n.1246T>G
c.6521T>G (p.Leu2174Trp)
n.6227T>G
c.6830T>G (p.Leu2277Trp)
c.6023T>G (p.Leu2008Trp)
c.2324T>G (p.Leu775Trp)
c.6410T>G (p.Leu2137Trp)
c.5774T>G (p.Leu1925Trp)
c.2564T>G (p.Leu855Trp)
5g.177294199G>ACA447961905NSD1c.5958G>A (p.Leu1986=)
c.1473G>A (p.Leu491=)
n.6414G>A
n.1247G>A
c.6522G>A (p.Leu2174=)
n.6228G>A
c.6831G>A (p.Leu2277=)
c.6024G>A (p.Leu2008=)
c.2325G>A (p.Leu775=)
c.6411G>A (p.Leu2137=)
c.5775G>A (p.Leu1925=)
c.2565G>A (p.Leu855=)
 gnomAD v4
5g.177294199G>CCA362326252NSD1c.5958G>C (p.Leu1986Phe)
c.1473G>C (p.Leu491Phe)
n.6414G>C
n.1247G>C
c.6522G>C (p.Leu2174Phe)
n.6228G>C
c.6831G>C (p.Leu2277Phe)
c.6024G>C (p.Leu2008Phe)
c.2325G>C (p.Leu775Phe)
c.6411G>C (p.Leu2137Phe)
c.5775G>C (p.Leu1925Phe)
c.2565G>C (p.Leu855Phe)
5g.177294199G>TCA362326253NSD1c.5958G>T (p.Leu1986Phe)
c.1473G>T (p.Leu491Phe)
n.6414G>T
n.1247G>T
c.6522G>T (p.Leu2174Phe)
n.6228G>T
c.6831G>T (p.Leu2277Phe)
c.6024G>T (p.Leu2008Phe)
c.2325G>T (p.Leu775Phe)
c.6411G>T (p.Leu2137Phe)
c.5775G>T (p.Leu1925Phe)
c.2565G>T (p.Leu855Phe)
5g.177294200C>ACA362326259NSD1c.5959C>A (p.Leu1987Ile)
c.1474C>A (p.Leu492Ile)
n.6415C>A
n.1248C>A
c.6523C>A (p.Leu2175Ile)
n.6229C>A
c.6832C>A (p.Leu2278Ile)
c.6025C>A (p.Leu2009Ile)
c.2326C>A (p.Leu776Ile)
c.6412C>A (p.Leu2138Ile)
c.5776C>A (p.Leu1926Ile)
c.2566C>A (p.Leu856Ile)
 dbSNP
5g.177294200C=CA1603535926NSD1c.5959C= (p.Leu1987=)
c.1474C= (p.Leu492=)
n.6415C=
n.1248C=
c.6523C= (p.Leu2175=)
n.6229C=
c.6832C= (p.Leu2278=)
c.6025C= (p.Leu2009=)
c.2326C= (p.Leu776=)
c.6412C= (p.Leu2138=)
c.5776C= (p.Leu1926=)
c.2566C= (p.Leu856=)
5g.177294200C>GCA362326261NSD1c.5959C>G (p.Leu1987Val)
c.1474C>G (p.Leu492Val)
n.6415C>G
n.1248C>G
c.6523C>G (p.Leu2175Val)
n.6229C>G
c.6832C>G (p.Leu2278Val)
c.6025C>G (p.Leu2009Val)
c.2326C>G (p.Leu776Val)
c.6412C>G (p.Leu2138Val)
c.5776C>G (p.Leu1926Val)
c.2566C>G (p.Leu856Val)
5g.177294200C>TCA3578049NSD1c.5959C>T (p.Leu1987=)
c.1474C>T (p.Leu492=)
n.6415C>T
n.1248C>T
c.6523C>T (p.Leu2175=)
n.6229C>T
c.6832C>T (p.Leu2278=)
c.6025C>T (p.Leu2009=)
c.2326C>T (p.Leu776=)
c.6412C>T (p.Leu2138=)
c.5776C>T (p.Leu1926=)
c.2566C>T (p.Leu856=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177294201T>ACA362326267NSD1c.5960T>A (p.Leu1987Gln)
c.1475T>A (p.Leu492Gln)
n.6416T>A
n.1249T>A
c.6524T>A (p.Leu2175Gln)
n.6230T>A
c.6833T>A (p.Leu2278Gln)
c.6026T>A (p.Leu2009Gln)
c.2327T>A (p.Leu776Gln)
c.6413T>A (p.Leu2138Gln)
c.5777T>A (p.Leu1926Gln)
c.2567T>A (p.Leu856Gln)
 gnomAD v4
5g.177294201T>CCA362326271NSD1c.5960T>C (p.Leu1987Pro)
c.1475T>C (p.Leu492Pro)
n.6416T>C
n.1249T>C
c.6524T>C (p.Leu2175Pro)
n.6230T>C
c.6833T>C (p.Leu2278Pro)
c.6026T>C (p.Leu2009Pro)
c.2327T>C (p.Leu776Pro)
c.6413T>C (p.Leu2138Pro)
c.5777T>C (p.Leu1926Pro)
c.2567T>C (p.Leu856Pro)
5g.177294201T>GCA362326280NSD1c.5960T>G (p.Leu1987Arg)
c.1475T>G (p.Leu492Arg)
n.6416T>G
n.1249T>G
c.6524T>G (p.Leu2175Arg)
n.6230T>G
c.6833T>G (p.Leu2278Arg)
c.6026T>G (p.Leu2009Arg)
c.2327T>G (p.Leu776Arg)
c.6413T>G (p.Leu2138Arg)
c.5777T>G (p.Leu1926Arg)
c.2567T>G (p.Leu856Arg)
5g.177294202A=CA1603535931NSD1c.5961A= (p.Leu1987=)
c.1476A= (p.Leu492=)
n.6417A=
n.1250A=
c.6525A= (p.Leu2175=)
n.6231A=
c.6834A= (p.Leu2278=)
c.6027A= (p.Leu2009=)
c.2328A= (p.Leu776=)
c.6414A= (p.Leu2138=)
c.5778A= (p.Leu1926=)
c.2568A= (p.Leu856=)
5g.177294202A>CCA447961910NSD1c.5961A>C (p.Leu1987=)
c.1476A>C (p.Leu492=)
n.6417A>C
n.1250A>C
c.6525A>C (p.Leu2175=)
n.6231A>C
c.6834A>C (p.Leu2278=)
c.6027A>C (p.Leu2009=)
c.2328A>C (p.Leu776=)
c.6414A>C (p.Leu2138=)
c.5778A>C (p.Leu1926=)
c.2568A>C (p.Leu856=)
 dbSNP gnomAD v2
5g.177294202A>GCA447961911NSD1c.5961A>G (p.Leu1987=)
c.1476A>G (p.Leu492=)
n.6417A>G
n.1250A>G
c.6525A>G (p.Leu2175=)
n.6231A>G
c.6834A>G (p.Leu2278=)
c.6027A>G (p.Leu2009=)
c.2328A>G (p.Leu776=)
c.6414A>G (p.Leu2138=)
c.5778A>G (p.Leu1926=)
c.2568A>G (p.Leu856=)
5g.177294202A>TCA447961912NSD1c.5961A>T (p.Leu1987=)
c.1476A>T (p.Leu492=)
n.6417A>T
n.1250A>T
c.6525A>T (p.Leu2175=)
n.6231A>T
c.6834A>T (p.Leu2278=)
c.6027A>T (p.Leu2009=)
c.2328A>T (p.Leu776=)
c.6414A>T (p.Leu2138=)
c.5778A>T (p.Leu1926=)
c.2568A>T (p.Leu856=)
 gnomAD v4

Number of alleles fetched