Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.37185382G>T | CA10217014 | C1QTNF6 | c.125C>A (p.Pro42His) n.3615C>A n.567C>A c.68C>A (p.Pro23His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37185382G>C | CA10217013 | C1QTNF6 | c.125C>G (p.Pro42Arg) n.3615C>G n.567C>G c.68C>G (p.Pro23Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |