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

Editor(s): Isabelle JERU   

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    81 sequence variant(s) among 81  
 
 
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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  R181W
  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  L558R  T571S
  S578G  W581*  L591M
  A629D  I641T  G683R
Intron 3X
  c.2072+2dupT
Exon 4 X
  L709P  N712S  G729R
  K731Q  N741S
Intron 4X
  c.2243+35C>T
Exon 5 X
  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=  A929T  N940S
  R944=  G957S  W959*
Intron 8X
No variants
Exon 9 X
  D978H  S979G  I996=
  A1009S  R1016*  R1030*
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