Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11110692C>T | CA505485338 | LDLR | c.1239C>T (p.His413=) c.981C>T (p.His327=) c.941-822C>T (n.941-822C>T) c.1235C>T c.477C>T (p.His159=) c.858C>T (p.His286=) c.600C>T (p.His200=) c.541-822C>T n.1131C>T n.1098C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.11110692C>A | CA16609808 | LDLR | c.1239C>A (p.His413Gln) c.981C>A (p.His327Gln) c.941-822C>A (n.941-822C>A) c.1235C>A c.477C>A (p.His159Gln) c.858C>A (p.His286Gln) c.600C>A (p.His200Gln) c.541-822C>A n.1131C>A n.1098C>A | ClinVar dbSNP gnomAD v4 |