Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.137200496_137200506del | CA113910 | TPRN | c.225_235del (p.Gly76AlafsTer?) n.90+3617_90+3627del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137200496_137200506dup | CA591373063 | TPRN | c.225_235dup (p.Leu79ArgfsTer?) n.90+3617_90+3627dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |