CARD14 (NM_024110.4) sequence variants
(CARMA2, BIMP2)

Editor(s): Francesca CAPON   

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    78 sequence variant(s) among 78  
 
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Flanking region
UTR region
Exonic region
Intronic region
 
5' flanking X
No variants
X 5' UTR
No variants
Exon 1 X
No variants
Intron 1X
No variants
Exon 2 X
  C50Y  R62Q  R69W
  R69Q
Intron 2X
No variants
Exon 3 X
  K78N  K93Q  V110A
  S116_G117ins22
Intron 3X
  c.349+1G>A  c.349+5G>A
Exon 4 X
  M119V  M119T  M119K
  M119R  T121I  L124P
  C127S  E138del  E138K
  E138A  L149R  L150R
  R151W  R151Q  C153S
  L156P  Q157P  R166H
  D176H  R179H  R182C
  E197K  S200N  L209P
  A216T  R218C
Intron 4X
No variants
Exon 5 X
  A254T  R266C
Intron 5X
No variants
Exon 6 X
  R298*  R311W  R319Q
Intron 6X
No variants
Exon 7 X
  M338V  L350P  V354M
Intron 7X
  c.1090-2A>G
Exon 8 X
  A364V
Intron 8X
No variants
Exon 9 X
  T420A  E422K  R430W
Intron 9X
  c.1356+5G>A  c.1357-1G>A
Exon 10 X
  P479R  W497Gfs*32
Intron 10X
No variants
Exon 11 X
  P506L  A512Sfs*6  A512T
  L528P
Intron 11X
No variants
Exon 12 X
  R547S
Intron 12X
No variants
Exon 13 X
  V555I  T591M  P600L
  S602L  A603V  R610H
Intron 13X
No variants
Exon 14 X
  A639G  G648S
Intron 14X
No variants
Exon 15 X
  R682W  Y724*
Intron 15X
No variants
Exon 16 X
No variants
Intron 16X
No variants
Exon 17 X
No variants
Intron 17X
  c.2399-4A>G
Exon 18 X
  R820W  R826W  L847F
Intron 18X
No variants
Exon 19 X
  R883H
Intron 19X
No variants
Exon 20 X
  K930del
Intron 20X
No variants
Exon 21 X
  E957del  D973E
3' UTR X
  c.*18C>T  c.*19G>A
3' flanking X
No variants