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

Editor(s): Ivona AKSENTIJEVICH   

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Classification Color   Status Color   Alteration Color     Pathogenic   Validated     Deletion   Police size Small Medium Large   Sort on 1 2 3 4 5 columns Likely pathogenic   Provisional     Duplication   VUS   Unsolved     Insertion   Likely benign   To be validated     Substitution   Reduce introns over px Benign   All       Delins   Unsolved           All     Not classified               All     159 sequence variant(s) among 159

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1     2   3   4   5   6   7   8   9   10       ADA2 - NM_001282225.2 2024-11-23 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.-42G>A   c.-31A>G   c.-14G>T Exon 1 X No variants Intron 1X   c.-47+2T>C Exon 2 X   p.?   P6L   R9W   G25C   I30T   T33NfsTer29   R34W   R45W   L46=   G47R   G47R   G47W   G47V   G47A   G48R   R49Afs*13   R49Gfs*4   R49W   N53Tfs*12   N53=   K55del   p.?   H91R   H91Lfs*12   I93T   P106S   A109Lfs*11 Intron 2X No variants Exon 3 X   A109D   H112Y   H112Q   I116Lfs*4   T129P   Y130SfsTer48   R131Sfs*53   H133Lfs*44   C134Y   I143Sfs*41   P151Qfs*33   P155Hfs*29   C159Y   W162R   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*   F283L   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   M436T   P443A   M445T   F446S   K449Nfs*2   G450C   L451W   L451F   Y453C   Y453=   D454H   Y456C   V458D   M460K   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