| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.114270742T>C | CA5202543 | COL27A1 | c.3570T>C (p.Leu1190=) n.503T>C c.2463T>C c.3516T>C (p.Leu1172=) c.1251T>C (p.Leu417=) c.3564T>C (p.Leu1188=) c.3546T>C (p.Leu1182=) c.1137T>C (p.Leu379=) n.4046T>C n.4047T>C n.4055T>C n.4001T>C c.3608T>C (p.Leu1203Ser) n.4048T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114270742T= | CA1873763472 | COL27A1 | c.3570T= (p.Leu1190=) n.503T= c.2463T= c.3516T= (p.Leu1172=) c.1251T= (p.Leu417=) c.3564T= (p.Leu1188=) c.3546T= (p.Leu1182=) c.1137T= (p.Leu379=) n.4046T= n.4047T= n.4055T= n.4001T= c.3608T= (p.Leu1203=) n.4048T= | dbSNP |