| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.30086309C>G | CA8001631 | TBX6 | c.1227G>C (p.Pro409=) c.*361G>C (n.*361G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30086309C>T | CA8001630 | TBX6 | c.1227G>A (p.Pro409=) c.*361G>A (n.*361G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30086309C= | CA2216419288 | TBX6 | c.1227G= (p.Pro409=) c.*361G= (n.*361G=) | dbSNP |