Table 2. SNVs identified in affected patients but not in unaffected family members.
| Family ID | Indivisual No. | Gene | Mutation | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| (Affected vs. unaffected) | Nucleic acid change | Type | AA cange | Exon | SIFT prediction (score) | PolyPhen-2 prediction (score) | MutationTaster prediction | Frequency in HGVD | dbSNP | Reported as pathogenic alteration | |||
| A | 1–3 vs. 4 | PTCH1 | NM_000264.3(PTCH1_v001) | c.1502A>G | Missense | p.Q501R | 10 | Damaging (0.00) | Probably damaging (0.967) | Disease_causing | - | - | - |
| PTCH1 | NM_000264.3(PTCH1_v001) | c.2222C>T | Missense | p.A741V | 14 | Damaging (0.01) | Possibly damaging (0.787) | Disease_causing | 0.004 | rs2227971 | - | ||
| PTCH1 | NM_000264.3(PTCH1_v001) | c.3953C>T | Missense | p.P1318L | 23 | Tolerated (0.13) | Benign (0.014) | Disease_causing | 0.0001 | - | - | ||
| B | 5 vs. 6 | PTCH1 | NM_000264.3(PTCH1_v001) | c.2619C>A | Nonsense | p.Y873* | 16 | - | - | - | - | - | Boutet et al., 2003 |
| C | 7 | PTCH1 | NM_000264.3(PTCH1_v001) | c.3394T>C | Missense | p.S1132P | 20 | Damaging (0.01) | Probably damaging (1.000) | Disease_causing | - | - | Reifenberger et al., 2001 |
| PTCH2 | NM_001166292.1(PTCH2_v001) | c.221G>A | Missense | p.R74H | 2 | Damaging (0.01) | Possibly damaging (0.933) | Disease_causing | 0.006 | - | - | ||
| PTCH2 | NM_001166292.1(PTCH2_v001) | c.524G>T | Missense | p.R175L | 4 | Tolerated (0.11) | Probably damaging (0.990) | Disease_causing | 0.006 | - | - | ||
| D | 8 vs. 9 | PTCH1 | NM_000264.3(PTCH1_v001) | c.1591_1601del | Frameshift | p.I531Gfs*92 | 9 | - | - | - | - | - | - |
| GLI2 | NM_005270.4(GLI2_v001) | c.1906G>C | Missense | p.A636P | 11 | Tolerated (0.26) | Possibly damaging (0.877) | Polymorphism | - | - | - | ||
| E | 10,11 vs. 12 | No | |||||||||||
| F | 13,14 vs. 15 | No | |||||||||||