Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20192782C>T | CA172205 | GJB2 | c.-23+1G>A (n.-23+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20192782C>G | CA2832588388 | GJB2 | c.-23+1G>C (n.-23+1G>C) | dbSNP |
13 | g.20192782C= | CA2077114644 | GJB2 | c.-23+1G= (n.-23+1G=) | dbSNP |