| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.111363028_111363036dup | CA243614987 | PHETA1 | c.397_405dup (p.Gly135_Met136insGlyGlyGly) c.436_444dup (p.Gly148_Met149insGlyGlyGly) | dbSNP |
| 12 | g.111363028_111363036del | CA6789433 | PHETA1 | c.397_405del (p.Gly133_Gly135del) c.436_444del (p.Gly146_Gly148del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |