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

Editor(s): Ivona AKSENTIJEVICH   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele

Build your graph

How to proceed? Hide
  • Select the type and color of the items you want to display
  • Choose the size of police and the shape of the columns displaying the variants
  • Reduce or not the intron length, then Apply
  • Click above on the gene region(s) to see the variants
  • Drag and drop the different elements as you wish in the delimited zone
  • Screenshot / Download and cite us!
 
Classification Color   Status Color   Alteration Color    
      Police size  

Sort on columns
     
     
      Reduce introns over px
       
           
             
    145 sequence variant(s) among 145  
 
1
 
 
2
 
3
 
4
 
5
 
6
 
7
 
8
 
9
 
10
 
 

 

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  c.-14G>T
Exon 1 X
No variants
Intron 1X
  c.-47+2T>C
Exon 2 X
  p.?  R9W  G25C
  I30T  R34W  R45W
  L46=  G47R  G47R
  G47W  G47A  G47V
  G48R  R49Afs*13  R49Gfs*4
  R49W  N53Tfs*12  N53=
  K55del  p.?  H91Lfs*12
  H91R  I93T  P106S
Intron 2X
No variants
Exon 3 X
  A109D  H112Y  H112Q
  T129P  R131Sfs*53  H133Lfs*44
  I143Sfs*41  P151Qfs*33  C159Y
  R169G  R169Q  F178S
Intron 3X
  c.542+1G>A  c.542+7A>G
Exon 4 X
  L183P  T187P  L188V
  L188P  P193L  V203A
  W204C  W204C  F207S
  I210Tfs*57  F212del  V217D
  Y220*  Y227Cfs*27  M232T
  Y236del  E237Rfs*30  D238N
  A247Qfs*16  M243R  E244A
  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  p.W264X
  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.973-314_1081+352del  c.973-69C>G
  c.973-2A>G  c.973-1G>A
Exon 7 X
  V325Tfs*7  p.0  G326R
  E328K  E328D  D329N
  H335R  P344L  V349I
  L351Q  Y353H  F355L
  A357T  G358R  T360A
Intron 7X
  c.1081+30C>A  c.1081+139_1082-92del  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  P425A
  P435A  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  S483Pfs*5  E489Q
  E489D  W501*
3' UTR X
  c.*159G>A
3' flanking X
No variants