| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.102797291C>T | CA6250694 | MMP1,WTAPP1 | c.315G>A (p.Gly105=) n.325-733C>T n.584-733C>T n.345-733C>T c.117G>A (p.Gly39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.102797291C>G | CA476737819 | MMP1,WTAPP1 | c.315G>C (p.Gly105=) n.325-733C>G n.584-733C>G n.345-733C>G c.117G>C (p.Gly39=) | dbSNP gnomAD v2 gnomAD v4 |