NLRP12 (NM_144687.3) sequence variants
(NALP12/PYPAF7/CLR19.3/PAN6/RNO2/Monarch-1)

Editor(s): Isabelle JERU   

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    73 sequence variant(s) among 73  
 
 
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Flanking region
UTR region
Exonic region
Intronic region
 
5' flanking X
No variants
X 5' UTR
  c.-140T>A  c.-12C>T
Exon 1 X
  G39V  G52S  W70*
Intron 1X
  c.289+6G>C  c.289+18C>T
Exon 2 X
No variants
Intron 2X
  c.371-43C>T
Exon 3 X
  Q126*  D142N  N144S
  R146H  T179I  D203=
  P210L  T260M  P273=
  R284*  P286L  D294E
  G295Lfs*3  H304Y  P319R
  R329Q  T341I  R352C
  R370K  K371Nfs*20  F402L
  P404L  W408*  L439Q
  G448A  R482W  E507K
  Y509Ter  M524I  A549T
  T571S  S578G  L591M
  A629D  G683R
Intron 3X
  c.2072+2dupT
Exon 4 X
  N712S  K731Q  N741S
Intron 4X
  c.2243+35C>T
Exon 5 X
  p.R753H  G786V  Q798=
Intron 5X
No variants
Exon 6 X
  L823=  L823=  A838T
  E840Q
Intron 6X
No variants
Exon 7 X
  V901L  L918=
Intron 7X
  c.2756+2T>A  c.2757-1G>T
Exon 8 X
  A928=  N940S  R944=
  G957S  W959*
Intron 8X
No variants
Exon 9 X
  D978H  S979G  I996=
  A1009S  R1016*
Intron 9X
  c.3098+99G>A  c.3099-33A>G
Exon 10 X
  W1033*  T1043A
3' UTR X
No variants
3' flanking X
No variants