| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.150941656A>G | CA2666080 | CLRN1 | c.359T>C (p.Met120Thr) c.507T>C (p.His169=) c.351T>C (n.351T>C) c.131T>C (p.Met44Thr) n.365T>C c.23T>C (p.Met8Thr) c.30T>C c.88T>C c.531T>C (p.His177=) n.801T>C n.671T>C n.529T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.150941656A>T | CA116819 | CLRN1 | c.359T>A (p.Met120Lys) c.507T>A (p.His169Gln) c.351T>A (n.351T>A) c.131T>A (p.Met44Lys) n.365T>A c.23T>A (p.Met8Lys) c.30T>A c.88T>A c.531T>A (p.His177Gln) n.801T>A n.671T>A n.529T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |