| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.44823064G>C | CA417561202 | PTCH2 | c.3357+5C>G (n.3357+5C>G) c.118+5C>G | dbSNP |
| 1 | g.44823064G>A | CA117975 | PTCH2 | c.3357+5C>T (n.3357+5C>T) c.118+5C>T | ClinVar dbSNP |
| 1 | g.44823064G>T | CA417561209 | PTCH2 | c.3357+5C>A (n.3357+5C>A) c.118+5C>A | dbSNP gnomAD v4 |
| 1 | g.44823064G= | CA1148224255 | PTCH2 | c.3357+5C= (n.3357+5C=) c.118+5C= | dbSNP |