NLRP3 (NM_001243133.2) sequence variants
(AII, AVP, FCU, MWS, FCAS, KEFH, CIAS1, FCAS1, NALP3, C1orf7, CLR1.1, DFNA34, PYPAF1, AGTAVPRL)

Editor(s): Hal HOFFMAN   Dorota ROWCZENIO   

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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     275 sequence variant(s) among 275

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1     2   3   4   5   6   7   8   9   10       NLRP3 - NM_001243133.2 2024-04-26 Flanking region UTR region Exonic region Intronic region   5' flanking X No variants X 5' UTR   c.-40G>T Exon 1 X No variants Intron 1X No variants Exon 2 X   D19H   D29V   P38S   H49R   M68T   A69=   V70M   A75V   D88Y Intron 2X   c.278-196T>C   c.278-45T>C Exon 3 X   R98G   R98H   M116I   S123L   K129R Intron 3X   c.397+7G>A   c.398-229T>G   c.398-56C>T   c.398-15C>T Exon 4 X   R135H   Y141=   C148Y   E150=   R168Q   R170S   R170H   I172T   K173E   R176W   E182V   T193M   T193K   S196N   V198M   P200T   E204G   D211N   H213R   T219=   A225V   G227=   T231=   L233=   A242=   L254M   C259W   R260W   R260P   R260Q   R260L   R260=   V262G   V262A   L264F   L264V   L264P   L264H   L264R   T266P   D280N   I288M   M299V   G301S   G301D   F302C   F302L   F302L   D303N   D303H   D303A   D303G   E304K   E304D   L305P   Q306K   Q306E   G307S   G307_F309del   G307D   G307V   G307A   F309_H312delinsY   F309Y   F309S   D310=   E311K   H312P   I313V   P315L   R325W   R325Q   G326E   G326A     S331R   S332N   I334V   P340=   L344=   T347I   T348M   T348=   P350L   V351L   V351L   V351M   A352S   A352T   A352V   L353P   E354D   K355T   K355N   H358R   L359V   L359W   L369M   A374D   K375E   E378K   V402L   T405P   M406V   M406T   M406I   F408S   L411F   L411=   L411M   L411V   L411=   W414L   I415=   T433I   S434=   K435E   K435N   T436A   T438del   T436P   T436I   T436N   A439P   A439T   A439V   Y441H   Y441=   V442I   F443L   F444V   G454E   H458=   G459C   C461=   H463=   L467=   N477K   I480F   R488K   A495V   I519T   M521T   F523C   F523Y   F523L   F523L   E525K   E525V   L534=   T542M   V544I   R548C   R554*   T557A   Y563N   Y563C   G564S   G564D   K565E   F566Y   F566L   E567K   E567Q   E567G   E567A   K568N   G569R   G569R   G569V   G569A   Y570H   Y570N   Y570F   Y570C   L571W   L571F   L571F   I572F   F573S   F579Y   T587I   S595G   S595N   I598F   R603G   E605V   p.S624R   E627Q   E627G   E627D   L632F   Q636E   p.M637L   E638K   D646Y   P649S   M659K   M662T   p.M664T   L677P   S678=   E688K   E690K   E690Q   M701T   Q703K   S710C   H711H   A712S Intron 4X   c.2150+59G>A Exon 5 X   S726G   G755R   G755R   G755A   G767S Intron 5X   c.2321+85A>G   c.2322-527_2322-486(6_12)   c.2322-225T>C   c.2322-224G>A   c.2322-197T>G   c.2322-194T>C   c.2322-76C>T   c.2322-55_2322-54ins42   c.2322-40G>A Exon 6 X   R777C   G779V   D787N   Q796P   G809S   K829T   L830I Intron 6X No variants Exon 7 X   Y859H   Y859C   V860=   G866R   A871T Intron 7X   c.2492+82delG   c.2493-133G>C   c.2493-40G>A   c.2663+71T>C   c.2663+859A>C Exon 8 X   V890L   S896P   N911S   R918Q Intron 8X No variants Exon 9 X   T952M   p.S975G   M986I Intron 9X   c.3005+25C>T   c.3005+44C>A   c.3006-45_3006-44del Exon 10 X No variants 3' UTR X   c.*177delC   c.*230G>C 3' flanking X No variants