ADA2 (NM_001282225.2) sequence variants
(PAN, ADGF, CECR1, IDGFL, SNEDS)

Editor(s): Ivona AKSENTIJEVICH   

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    117 sequence variant(s) among 117  
 
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Flanking region
UTR region
Exonic region
Intronic region
 
5' flanking X
  c.-10646_-46-4514del  c.-2484del  c.0
X 5' UTR
  c.-43C>T  c.-31A>G
Exon 1 X
No variants
Intron 1X
  c.-47+2T>C
Exon 2 X
  p.?  R9W  G25C
  I30T  R45W  L46=
  G47W  G47R  G47A
  G47V  G48R  R49Afs*13
  R49Gfs*4  R49W  N53Tfs*12
  N53=  K55del  I93T
Intron 2X
No variants
Exon 3 X
  A109D  H112Y  H112Q
  T129P  H133Lfs*44  I143Sfs*41
  C159Y  R169Q  F178S
Intron 3X
  c.542+1G>A  c.542+7A>G
Exon 4 X
  L183P  L188V  L188P
  P193L  F207S  I210Tfs*57
  F212del  V217D  Y220*
  Y227Cfs*27  Y236del  D238N
  M243R  A247V  L249P
  P251L  P251P
Intron 4X
  c.753+2T>A  c.753+168_754-229_1081+139_1082-92del
Exon 5 X
  D261Pfs*2  W264S  S265*
  S291L
Intron 5X
  c.882-2A>G
Exon 6 X
  R306*  M309I  L311R
  R312*  T317M  G321E
  G321A
Intron 6X
  c.972+3A>G  c.973-69C>G  c.973-2A>G
  c.973-1G>A
Exon 7 X
  p.0  V325Tfs*7  E328K
  E328D  H335R  P344L
  V349I  L351Q  Y353H
  F355L  A357T  G358R
  T360A
Intron 7X
  c.1081+30C>A  c.1081+1613_*8176del
Exon 8 X
  N370K  G383S  G383D
  H391Q  W399*  I405L
  C408Y  P409S  P409H
Intron 8X
  c.1240-5C>G
Exon 9 X
  V414M  N423K  F446S
  K449Nfs*2  G450C  L451W
  L451F  Y453C  Y453=
  D454H  Y456C  V458D
  M465Dfs*4  K466Tfs*2  S479P
Intron 9X
  c.1442+6T>C  c.1442+11T>C  c.1442+31G>A
  c.1443-2A>T
Exon 10 X
  Y482C  E489Q
3' UTR X
  c.*159G>A
3' flanking X
No variants