Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.208121796G>C | CA350091687 | CRYGD | c.402C>G (p.Tyr134Ter) n.97+2571G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208121796G>T | CA215000 | CRYGD | c.402C>A (p.Tyr134Ter) n.97+2571G>T | ClinVar dbSNP COSMIC |
2 | g.208121796G>A | CA2077640 | CRYGD | c.402C>T (p.Tyr134=) n.97+2571G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |