Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2337259G>A | CA15865120 | ABCA3 | c.-539+3314C>T (n.-539+3314C>T) n.25+3314C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2337259G= | CA2202176759 | ABCA3 | c.-539+3314C= (n.-539+3314C=) n.25+3314C= | dbSNP |