| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.46529227G>C | CA402373788 | LOXHD1 | c.1147C>G (p.Arg383Gly) c.859C>G (p.Arg287Gly) c.4480C>G (p.Arg1494Gly) n.3793C>G c.3862C>G (p.Arg1288Gly) c.1279C>G (p.Arg427Gly) c.2641C>G (p.Arg881Gly) c.1144C>G (p.Arg382Gly) c.2962C>G (p.Arg988Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.46529227G>T | CA299802806 | LOXHD1 | c.1147C>A (p.Arg383=) c.859C>A (p.Arg287=) c.4480C>A (p.Arg1494=) n.3793C>A c.3862C>A (p.Arg1288=) c.1279C>A (p.Arg427=) c.2641C>A (p.Arg881=) c.1144C>A (p.Arg382=) c.2962C>A (p.Arg988=) | ClinVar dbSNP |
| 18 | g.46529227G>A | CA273544 | LOXHD1 | c.1147C>T (p.Arg383Ter) c.859C>T (p.Arg287Ter) c.4480C>T (p.Arg1494Ter) n.3793C>T c.3862C>T (p.Arg1288Ter) c.1279C>T (p.Arg427Ter) c.2641C>T (p.Arg881Ter) c.1144C>T (p.Arg382Ter) c.2962C>T (p.Arg988Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |