| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.168305136C>T | CA250028 | TBX19 | c.856C>T (p.Arg286Ter) c.525-3606C>T c.353C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168305136C= | CA1140886881 | TBX19 | c.856C= (p.Arg286=) c.525-3606C= c.353C= | dbSNP |
| 1 | g.168305136C>G | CA343195517 | TBX19 | c.856C>G (p.Arg286Gly) c.525-3606C>G c.353C>G | dbSNP gnomAD v4 |