| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.10715678C>T | CA401912848 | PIEZO2 | c.5129G>A (p.Arg1710Gln) n.5186G>A c.5228G>A (p.Arg1743Gln) c.5054G>A (p.Arg1685Gln) c.4907G>A (p.Arg1636Gln) c.5095G>A (n.5095G>A) c.5186G>A (p.Arg1729Gln) c.5096G>A (p.Arg1699Gln) c.5147G>A (p.Arg1716Gln) n.6183G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.10715678C>G | CA10588852 | PIEZO2 | c.5129G>C (p.Arg1710Pro) n.5186G>C c.5228G>C (p.Arg1743Pro) c.5054G>C (p.Arg1685Pro) c.4907G>C (p.Arg1636Pro) c.5095G>C (n.5095G>C) c.5186G>C (p.Arg1729Pro) c.5096G>C (p.Arg1699Pro) c.5147G>C (p.Arg1716Pro) n.6183G>C | ClinVar dbSNP |