Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.47679G>A | CA16609228 | TUBB8 | c.713C>T (p.Thr238Met) c.*376C>T (n.*376C>T) c.611C>T (p.Thr204Met) c.*557C>T (n.*557C>T) c.602C>T (p.Thr201Met) c.497C>T (p.Thr166Met) c.254C>T (p.Thr85Met) c.377C>T (p.Thr126Met) | ClinVar dbSNP gnomAD v4 |
10 | g.47679G>T | CA375817667 | TUBB8 | c.713C>A (p.Thr238Lys) c.*376C>A (n.*376C>A) c.611C>A (p.Thr204Lys) c.*557C>A (n.*557C>A) c.602C>A (p.Thr201Lys) c.497C>A (p.Thr166Lys) c.254C>A (p.Thr85Lys) c.377C>A (p.Thr126Lys) | dbSNP gnomAD v4 |