| Label | Id | |
|---|---|---|
| PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INS | GENE:OMIM | |
| PTCH1, 11-BP DEL, NT2442 | GENE:OMIM | |
| PTCH1, GLN210TER | GENE:OMIM | |
| PTCH1, 37-BP DEL, NT808 | GENE:OMIM | |
| PTCH1, 1148G-A | GENE:OMIM | |
| PTCH1, PRO-SER, 451C-T | GENE:OMIM | |
| PTCH1, 3340A-T | GENE:OMIM | |
| PTCH1, ALA393THR | GENE:OMIM | |
| PTCH1, THR728MET | GENE:OMIM | |
| PTCH1, SER827GLY | GENE:OMIM | |
| PTCH1, THR1052MET | GENE:OMIM | |
| PTCH1, VAL908GLY | GENE:OMIM | |
| ACVR1B, 5-BP DEL | GENE:OMIM | |
| ACVR1B, 657-BP DEL | GENE:OMIM | |
| BMPR1A, 4-BP DEL, 44TGTT | GENE:OMIM |