| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSP | 4 | Splice | c.423-1G>A | r.spl |
0/200
| TFC+; SD at age 33 | 2 | Mutation c.423-1G>A alters the acceptor splicing site of intron 3, resulting in the skipping of
exon 4. This aberrant spliced mRNA contains a premature stop codon. |
Mutation details
|
| DSP | 7 | S299R | c.897C>G | p.Ser299Arg |
0/0
| TFC+ | 16 | reported before by Rampazzo et al |
Mutation details
|
| DSP | 23 | R1255K | c.3764G>A | p.Arg1255Lys |
0/200
| TFC+ | 1 | |
Mutation details
|
| DSP | 23 | R1775I | c.5324G>T | p.Arg1775Ile |
0/200
| TFC+ | 3 | |
Mutation details
|