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

Editor(s): Francesca CAPON   

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    68 sequence variant(s) among 68  
 
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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  T121I  L124P
  E138del  E138A  L149R
  L150R  R151W  R151Q
  C153S  L156P  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
  R311W
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
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
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