Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.46875946C>G | CA129194 | LRP4 | c.3557G>C (p.Trp1186Ser) c.3770G>C (p.Trp1257Ser) c.2753G>C (p.Trp918Ser) c.1322G>C (p.Trp441Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46875946C>T | CA380273618 | LRP4 | c.3557G>A (p.Trp1186Ter) c.3770G>A (p.Trp1257Ter) c.2753G>A (p.Trp918Ter) c.1322G>A (p.Trp441Ter) | dbSNP gnomAD v2 |
11 | g.46875946C>A | CA5969547 | LRP4 | c.3557G>T (p.Trp1186Leu) c.3770G>T (p.Trp1257Leu) c.2753G>T (p.Trp918Leu) c.1322G>T (p.Trp441Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |