| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.53247055C>G | CA340399627 | LRP8 | c.2855G>C (p.Arg952Pro) c.2345G>C (p.Arg782Pro) c.2489G>C (p.Arg830Pro) c.*1020G>C (n.*1020G>C) c.393G>C c.2390G>C (p.Arg797Pro) c.1576G>C n.2315G>C c.357G>C (p.Ala119=) c.1985G>C (p.Arg662Pro) c.699G>C c.2336G>C (p.Arg779Pro) c.2090G>C (p.Arg697Pro) n.2183G>C c.*2074G>C (n.*2074G>C) c.2468G>C (p.Arg823Pro) c.2162G>C (p.Arg721Pro) c.617G>C c.2677-1074G>C (n.2677-1074G>C) c.2262G>C c.2630G>C (p.Arg877Pro) n.2568G>C n.9319G>C c.2066G>C (p.Arg689Pro) c.2678G>C (p.Arg893Pro) c.1337G>C (p.Arg446Pro) c.*1797G>C (n.*1797G>C) c.328G>C c.2063G>C (p.Arg688Pro) c.2894G>C (p.Arg965Pro) c.2507G>C (p.Arg836Pro) c.2717G>C (p.Arg906Pro) c.2669G>C (p.Arg890Pro) c.2768G>C (p.Arg923Pro) c.2378G>C (p.Arg793Pro) c.2981G>C (p.Arg994Pro) c.2729G>C (p.Arg910Pro) c.2492G>C (p.Arg831Pro) c.1637G>C (p.Arg546Pro) | dbSNP |
| 1 | g.53247055C>T | CA118585 | LRP8 | c.2855G>A (p.Arg952Gln) c.2345G>A (p.Arg782Gln) c.2489G>A (p.Arg830Gln) c.*1020G>A (n.*1020G>A) c.393G>A c.2390G>A (p.Arg797Gln) c.1576G>A n.2315G>A c.357G>A (p.Ala119=) c.1985G>A (p.Arg662Gln) c.699G>A c.2336G>A (p.Arg779Gln) c.2090G>A (p.Arg697Gln) n.2183G>A c.*2074G>A (n.*2074G>A) c.2468G>A (p.Arg823Gln) c.2162G>A (p.Arg721Gln) c.617G>A c.2677-1074G>A (n.2677-1074G>A) c.2262G>A c.2630G>A (p.Arg877Gln) n.2568G>A n.9319G>A c.2066G>A (p.Arg689Gln) c.2678G>A (p.Arg893Gln) c.1337G>A (p.Arg446Gln) c.*1797G>A (n.*1797G>A) c.328G>A c.2063G>A (p.Arg688Gln) c.2894G>A (p.Arg965Gln) c.2507G>A (p.Arg836Gln) c.2717G>A (p.Arg906Gln) c.2669G>A (p.Arg890Gln) c.2768G>A (p.Arg923Gln) c.2378G>A (p.Arg793Gln) c.2981G>A (p.Arg994Gln) c.2729G>A (p.Arg910Gln) c.2492G>A (p.Arg831Gln) c.1637G>A (p.Arg546Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.53247055C>A | CA340399626 | LRP8 | c.2855G>T (p.Arg952Leu) c.2345G>T (p.Arg782Leu) c.2489G>T (p.Arg830Leu) c.*1020G>T (n.*1020G>T) c.393G>T c.2390G>T (p.Arg797Leu) c.1576G>T n.2315G>T c.357G>T (p.Ala119=) c.1985G>T (p.Arg662Leu) c.699G>T c.2336G>T (p.Arg779Leu) c.2090G>T (p.Arg697Leu) n.2183G>T c.*2074G>T (n.*2074G>T) c.2468G>T (p.Arg823Leu) c.2162G>T (p.Arg721Leu) c.617G>T c.2677-1074G>T (n.2677-1074G>T) c.2262G>T c.2630G>T (p.Arg877Leu) n.2568G>T n.9319G>T c.2066G>T (p.Arg689Leu) c.2678G>T (p.Arg893Leu) c.1337G>T (p.Arg446Leu) c.*1797G>T (n.*1797G>T) c.328G>T c.2063G>T (p.Arg688Leu) c.2894G>T (p.Arg965Leu) c.2507G>T (p.Arg836Leu) c.2717G>T (p.Arg906Leu) c.2669G>T (p.Arg890Leu) c.2768G>T (p.Arg923Leu) c.2378G>T (p.Arg793Leu) c.2981G>T (p.Arg994Leu) c.2729G>T (p.Arg910Leu) c.2492G>T (p.Arg831Leu) c.1637G>T (p.Arg546Leu) | dbSNP gnomAD v4 |