Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.46705818_46705821del | CA10575478 | TMIE | c.122_125del (p.Pro41LeufsTer3) c.-38_-35del (n.-38_-35del) c.20_23del (p.Pro7LeufsTer3) | ClinVar dbSNP |
3 | g.46705818_46705821dup | CA542720064 | TMIE | c.122_125dup (p.Pro43AlafsTer?) c.-38_-35dup (n.-38_-35dup) c.20_23dup (p.Pro9AlafsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |