| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40307451G>T | CA339852283 | COL9A2 | c.1003C>A (p.Leu335Ile) n.1306C>A c.1015C>A (p.Leu339Ile) c.733C>A (p.Leu245Ile) c.460C>A (p.Leu154Ile) c.721C>A (p.Leu241Ile) | ClinVar dbSNP gnomAD v4 |
| 1 | g.40307451G>C | CA791640 | COL9A2 | c.1003C>G (p.Leu335Val) n.1306C>G c.1015C>G (p.Leu339Val) c.733C>G (p.Leu245Val) c.460C>G (p.Leu154Val) c.721C>G (p.Leu241Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40307451G>A | CA21041663 | COL9A2 | c.1003C>T (p.Leu335=) n.1306C>T c.1015C>T (p.Leu339=) c.733C>T (p.Leu245=) c.460C>T (p.Leu154=) c.721C>T (p.Leu241=) | dbSNP |