| 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 |
| 12 | g.55695573C>A | CA385185329 | ITGA7 | c.*1576G>T (n.*1576G>T) c.816G>T n.816G>T c.1478G>T (p.Arg493Leu) c.1964G>T (p.Arg655Leu) c.*1663G>T (n.*1663G>T) c.*436G>T (n.*436G>T) c.797G>T c.1952G>T (p.Arg651Leu) c.1934G>T (p.Arg645Leu) c.1673G>T (p.Arg558Leu) c.210G>T c.2084G>T (p.Arg695Leu) n.199G>T c.2066G>T (p.Arg689Leu) c.1745G>T (p.Arg582Leu) c.1613G>T (p.Arg538Leu) c.1610G>T (p.Arg537Leu) c.1694G>T (p.Arg565Leu) c.1625G>T (p.Arg542Leu) c.608G>T (p.Arg203Leu) | dbSNP |
| 12 | g.55695573C= | CA2038039529 | ITGA7 | c.*1576G= (n.*1576G=) c.816G= n.816G= c.1478G= (p.Arg493=) c.1964G= (p.Arg655=) c.*1663G= (n.*1663G=) c.*436G= (n.*436G=) c.797G= c.1952G= (p.Arg651=) c.1934G= (p.Arg645=) c.1673G= (p.Arg558=) c.210G= c.2084G= (p.Arg695=) n.199G= c.2066G= (p.Arg689=) c.1745G= (p.Arg582=) c.1613G= (p.Arg538=) c.1610G= (p.Arg537=) c.1694G= (p.Arg565=) c.1625G= (p.Arg542=) c.608G= (p.Arg203=) | dbSNP |