Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.93997213G>C | CA1181406146 | ABCA4 | c.6729+648C>G (n.6729+648C>G) c.3105+648C>G (n.3105+648C>G) | dbSNP |
1 | g.93997213G>A | CA10986607 | ABCA4 | c.6729+648C>T (n.6729+648C>T) c.3105+648C>T (n.3105+648C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |