LDLR
| EGAN00001101197 | chr19: 11222242-11222242 | G | A | exonic | | De novo | synonymous SNV | NM_001195800 NM_001195799 NM_001195803 NM_000527 NM_001195798 | c.G609A c.G990A c.G732A c.G1113A c.G1113A | p.L203L p.L330L p.L244L p.L371L p.L371L | - | - | Fu2022
E
Satterstrom2020
E
| |