Table 3.
Gene | Exon | c‐notation | p‐notation | Domain | Reference | Times reported | Effect |
---|---|---|---|---|---|---|---|
TGFB3 | 1 | c.106A > T | p.Lys36* | LAP | Current study | 1 | Pathogenic |
TGFB3 | 2 | c.437delT | p.Leu146Hisfs*68 | LAP | Current study | 1 | Pathogenic |
TGFB3 | 4 | c.704delA | p.Asn235Metfs*11 | LAP | (Bertoli‐Avella et al., 2015) | 1 | Pathogenic |
TGFB3 | 4 | c.754+2T > C | p.Glu216_Lys251del | LAP | (Bertoli‐Avella et al., 2015) | 1 | Pathogenic |
TGFB3 | 5 | c.787G > C | p.Asp263His | LAP | ( Bertoli‐Avella et al., 2015 ), Current study | 3 | Likely pathogenic |
TGFB3 | 5 | c.796C > T | p.Arg266Cys | LAP | Current study | 1 | VUS |
TGFB3 | 5 | c.898C > T | p.Arg300Trp | RKKR motif | ( Bertoli‐Avella et al., 2015 ), Current study | 5 | Pathogenic |
TGFB3 | 5 | c.899G > A | p.Arg300Gln | RKKR motif | ( Matyas et al., 2014 ), Current study | 2 | Pathogenic |
TGFB3 | 5 | c.898C > G | p.Arg300Gly | RKKR motif | (Kuechler et al., 2015) | 1 | Likely pathogenic |
TGFB3 | 6 | c.965T > C | p.Ile322Thr | Cytokine | (Bertoli‐Avella et al., 2015) | 1 | Likely pathogenic |
TGFB3 | 6 | c.979G > T | p.Asp327Tyr | Cytokine | Current study | 1 | Likely pathogenic |
TGFB3 | 6 | c.1095C > A | p.Tyr365* | Cytokine | (Bertoli‐Avella et al., 2015) | 1 | Pathogenic |
TGFB3 | 7 | c.1157delT | p.Leu386Argfs*21 | Cytokine | (Bertoli‐Avella et al., 2015) | 1 | Pathogenic |
TGFB3 | 7 | c.1202T > C | p.Leu401Pro | Cytokine | ( Bertoli‐Avella et al., 2015 ), Current study | 2 | Likely pathogenic |
TGFB3 | 7 | c.1226G > A | p.Cys409Tyr | Cytokine | (Rienhoff et al., 2013) | 1 | Pathogenic |
SMAD2 | 8 | c.954T > A | p.Asn318Lys | MH2 | Current study | 1 | Likely pathogenic |
SMAD2 | 9 | c.1082A > C | p.Asn361Thr | MH2 | Current study | 1 | Likely pathogenic |
SMAD2 | 10 | c.1163A > G | p.Gln388Arg | MH2 | (Micha et al., 2015) | 1 | Likely pathogenic |
SMAD2 | 10 | c.1190C > A | p.Ser397Tyr | MH2 | Current study | 1 | Likely pathogenic |
SMAD2 | 11 | c.1346T > C | p.Leu449Ser | MH2 | (Micha et al., 2015) | 1 | Likely pathogenic |
SMAD2 | 11 | c.1369G > A | p.Gly457Arg | MH2 | (Micha et al., 2015) | 1 | Likely pathogenic |
SMAD2 | 11 | c.1400C > T | p.Ser467Leu | MH2 | Current study | 1 | VUS |
Mutations identified in this study are indicated in bold.