| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55695573C>G | CA385185337 | ITGA7 | c.*1576G>C (n.*1576G>C) c.816G>C n.816G>C c.1478G>C (p.Arg493Pro) c.1964G>C (p.Arg655Pro) c.*1663G>C (n.*1663G>C) c.*436G>C (n.*436G>C) c.797G>C c.1952G>C (p.Arg651Pro) c.1934G>C (p.Arg645Pro) c.1673G>C (p.Arg558Pro) c.210G>C c.2084G>C (p.Arg695Pro) n.199G>C c.2066G>C (p.Arg689Pro) c.1745G>C (p.Arg582Pro) c.1613G>C (p.Arg538Pro) c.1610G>C (p.Arg537Pro) c.1694G>C (p.Arg565Pro) c.1625G>C (p.Arg542Pro) c.608G>C (p.Arg203Pro) | dbSNP gnomAD v4 |
| 12 | g.55695573C>T | CA147554 | ITGA7 | c.*1576G>A (n.*1576G>A) c.816G>A n.816G>A c.1478G>A (p.Arg493His) c.1964G>A (p.Arg655His) c.*1663G>A (n.*1663G>A) c.*436G>A (n.*436G>A) c.797G>A c.1952G>A (p.Arg651His) c.1934G>A (p.Arg645His) c.1673G>A (p.Arg558His) c.210G>A c.2084G>A (p.Arg695His) n.199G>A c.2066G>A (p.Arg689His) c.1745G>A (p.Arg582His) c.1613G>A (p.Arg538His) c.1610G>A (p.Arg537His) c.1694G>A (p.Arg565His) c.1625G>A (p.Arg542His) c.608G>A (p.Arg203His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |