Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.49185197C>G | CA16619547 | TUBA1A | c.1169G>C (p.Arg390Pro) c.1064G>C (p.Arg355Pro) n.2202G>C c.*625G>C (n.*625G>C) | ClinVar dbSNP |
12 | g.49185197C>T | CA384635115 | TUBA1A | c.1169G>A (p.Arg390His) c.1064G>A (p.Arg355His) n.2202G>A c.*625G>A (n.*625G>A) | ClinVar dbSNP COSMIC |