Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.46524734G>T | CA142226 | LOXHD1 | c.1381C>A (p.Arg461=) c.1093C>A (p.Arg365=) c.4714C>A (p.Arg1572=) n.4027C>A c.4096C>A (p.Arg1366=) c.1513C>A (p.Arg505=) c.2875C>A (p.Arg959=) c.1378C>A (p.Arg460=) c.3196C>A (p.Arg1066=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.46524734G>A | CA259968 | LOXHD1 | c.1381C>T (p.Arg461Ter) c.1093C>T (p.Arg365Ter) c.4714C>T (p.Arg1572Ter) n.4027C>T c.4096C>T (p.Arg1366Ter) c.1513C>T (p.Arg505Ter) c.2875C>T (p.Arg959Ter) c.1378C>T (p.Arg460Ter) c.3196C>T (p.Arg1066Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |