Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71223816G>T | CA16043599 | GJB1 | c.109G>T (p.Val37Leu) | ClinVar dbSNP |
X | g.71223816G>C | CA413500957 | GJB1 | c.109G>C (p.Val37Leu) | ClinVar dbSNP gnomAD v4 |
X | g.71223816G>A | CA413500955 | GJB1 | c.109G>A (p.Val37Met) | ClinVar dbSNP |