Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47853173G>A | CA2262859977 | SP6 | c.-58+2481C>T (n.-58+2481C>T) c.-57-4687C>T (n.-57-4687C>T) | dbSNP |
17 | g.47853173G>T | CA14436337 | SP6 | c.-58+2481C>A (n.-58+2481C>A) c.-57-4687C>A (n.-57-4687C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |