Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.71979082A>C | CA480773984 | TPH2 | c.936A>C (p.Pro312=) c.342A>C (p.Pro114=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.71979082A>G | CA6689928 | TPH2 | c.936A>G (p.Pro312=) c.342A>G (p.Pro114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.71979082A>T | CA480773986 | TPH2 | c.936A>T (p.Pro312=) c.342A>T (p.Pro114=) | dbSNP |