| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114385476C>T | CA323524 | TBX5 | c.755G>A (p.Ser252Asn) c.605G>A (p.Ser202Asn) c.803G>A (p.Ser268Asn) | ClinVar dbSNP |
| 12 | g.114385476C>A | CA16613669 | TBX5 | c.755G>T (p.Ser252Ile) c.605G>T (p.Ser202Ile) c.803G>T (p.Ser268Ile) | ClinVar dbSNP |
| 12 | g.114385476C>G | CA10588541 | TBX5 | c.755G>C (p.Ser252Thr) c.605G>C (p.Ser202Thr) c.803G>C (p.Ser268Thr) | ClinVar dbSNP |