Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.133352141_133352144del | CA860707272 | SURF1 | c.752_755del n.662_665del n.742_745del c.425_428del | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
9 | g.133352143_133352144del | CA10626719 | SURF1 | c.754_755del n.664_665del n.744_745del c.427_428del | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |