| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55698492del | CA6616066 | ITGA7 | c.*775+24del (n.*775+24del) c.614del (p.Gly205ValfsTer?) c.1100del (p.Gly367ValfsTer?) c.*799del (n.*799del) c.968del (p.Gly323ValfsTer?) c.1088del (p.Gly363ValfsTer?) c.809del (p.Gly270ValfsTer?) c.1220del (p.Gly407ValfsTer?) c.272+223del (n.272+223del) c.881del (p.Gly294ValfsTer?) c.749del (p.Gly250ValfsTer?) c.746del (p.Gly249ValfsTer?) c.830del (p.Gly277ValfsTer?) c.761del (p.Gly254ValfsTer?) c.-205del (n.-205del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 12 | g.55698492dup | CA153197 | ITGA7 | c.*775+24dup (n.*775+24dup) c.614dup (p.His206SerfsTer15) c.1100dup (p.His368SerfsTer15) c.*799dup (n.*799dup) c.968dup (p.His324SerfsTer15) c.1088dup (p.His364SerfsTer15) c.809dup (p.His271SerfsTer15) c.1220dup (p.His408SerfsTer15) c.272+223dup (n.272+223dup) c.881dup (p.His295SerfsTer15) c.749dup (p.His251SerfsTer15) c.746dup (p.His250SerfsTer15) c.830dup (p.His278SerfsTer15) c.761dup (p.His255SerfsTer15) c.-205dup (n.-205dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |