Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.121758981G>A | CA5222106 | DAB2IP | c.600G>A (p.Ala200=) c.456G>A (p.Ala152=) c.516G>A (p.Ala172=) c.*34G>A (n.*34G>A) c.417G>A (p.Ala139=) c.228G>A (p.Ala76=) c.327G>A (p.Ala109=) c.579G>A (p.Ala193=) c.525G>A (p.Ala175=) c.408G>A (p.Ala136=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.121758981G>C | CA467070208 | DAB2IP | c.600G>C (p.Ala200=) c.456G>C (p.Ala152=) c.516G>C (p.Ala172=) c.*34G>C (n.*34G>C) c.417G>C (p.Ala139=) c.228G>C (p.Ala76=) c.327G>C (p.Ala109=) c.579G>C (p.Ala193=) c.525G>C (p.Ala175=) c.408G>C (p.Ala136=) | dbSNP |
9 | g.121758981G>T | CA467070210 | DAB2IP | c.600G>T (p.Ala200=) c.456G>T (p.Ala152=) c.516G>T (p.Ala172=) c.*34G>T (n.*34G>T) c.417G>T (p.Ala139=) c.228G>T (p.Ala76=) c.327G>T (p.Ala109=) c.579G>T (p.Ala193=) c.525G>T (p.Ala175=) c.408G>T (p.Ala136=) | dbSNP |
9 | g.121758981G= | CA1877217368 | DAB2IP | c.600G= (p.Ala200=) c.456G= (p.Ala152=) c.516G= (p.Ala172=) c.*34G= (n.*34G=) c.417G= (p.Ala139=) c.228G= (p.Ala76=) c.327G= (p.Ala109=) c.579G= (p.Ala193=) c.525G= (p.Ala175=) c.408G= (p.Ala136=) | dbSNP |