| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94062680G>A | CA16042375 | ABCA4 | c.1834C>T (p.Gln612Ter) c.-65+494C>T (n.-65+494C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062680G= | CA1181418844 | ABCA4 | c.1834C= (p.Gln612=) c.-65+494C= (n.-65+494C=) | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94062680G>A | CA16042375 | ABCA4 | c.1834C>T (p.Gln612Ter) c.-65+494C>T (n.-65+494C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062680G= | CA1181418844 | ABCA4 | c.1834C= (p.Gln612=) c.-65+494C= (n.-65+494C=) | dbSNP |