Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.30846888A>G | CA460486932 | TEX15 | c.2130T>C (p.Tyr710=) c.3291T>C (p.Tyr1097=) c.3279T>C (p.Tyr1093=) c.2970T>C (p.Tyr990=) | dbSNP gnomAD v4 |
8 | g.30846888A>C | CA213392 | TEX15 | c.2130T>G (p.Tyr710Ter) c.3291T>G (p.Tyr1097Ter) c.3279T>G (p.Tyr1093Ter) c.2970T>G (p.Tyr990Ter) | ClinVar dbSNP |