TNFAIP3 (NM_006290.4) sequence variants
(A20, AISBL, OTUD7C, TNFA1P2)

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     86 sequence variant(s) among 86

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1     2   3   4   5   6   7   8   9       TNFAIP3 - NM_006290.4 2024-04-25 Flanking region UTR region Exonic region Intronic region   5' flanking X   c.-505397_*1143129del   c.0 X 5' UTR No variants Exon 1 X No variants Intron 1X   c.-15-1605_448del Exon 2 X   R22Q   R45*   L83F   W85Gfs*11   R87*   K91*   Q593* Intron 2X   c.296-2A>G Exon 3 X   N102S   T108A   F127C   T129M   R136Qfs*3   R141C   L147Qfs*7   K148NfsTer68   E154*   T155M Intron 3X   c.486+1G>T Exon 4 X   W164Ter   A175P   R183*   Q187*   E192K   C200Afs*16   I207L Intron 4X   c.634+2T>C Exon 5 X   S217R   F224Sfs*4   P226Lfs*2   L227*   L236P   C243Y   D253_F257del   P268Lfs*19 Intron 5X No variants Exon 6 X   R271*   P274Hfs*13   L275P   T292P   K304Vfs*27   Y306*   V309dup   I310T   L324Qfs*7 Intron 6X No variants Exon 7 X   p.?   E332*   A333Gfs*2   P336Tfs*9   E338*     Q370Rfs*16   N371Sfs*17   D384G   K417Sfs*4   A434*   A434V   G440Rfs*4   W448C   N449Tfs*28   P457Afs*16   M476I   C478*   V489Afs*7   R502W   Q503*   L525V   A547T   H577Afs*95   A588Vfs*80   T602S   G603R   T604Rfs*93   H636Ter Intron 7X   c.1906+1G>A   c.1906+1G>C   c.1906+2T>G Exon 8 X   T647P   I679T Intron 8X   c.2088+5G>C Exon 9 X   Q709R   L725P   Q737Sfs*79   K786T 3' UTR X No variants 3' flanking X No variants