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 |