| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.169154511C>T | CA349137205 | LRP2 | c.12244G>A (p.Glu4082Lys) c.3144G>A c.1272G>A (p.Arg424=) c.12115G>A (p.Glu4039Lys) c.9955G>A (p.Glu3319Lys) | dbSNP COSMIC |
| 2 | g.169154511C>A | CA16604061 | LRP2 | c.12244G>T (p.Glu4082Ter) c.3144G>T c.1272G>T (p.Arg424Ser) c.12115G>T (p.Glu4039Ter) c.9955G>T (p.Glu3319Ter) | ClinVar dbSNP |