Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.136041877C>T | CA15394079 | TGFBI | c.234-2181C>T (n.234-2181C>T) n.302-2181C>T n.299-2181C>T c.151-2181C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136041877C>A | CA1584789042 | TGFBI | c.234-2181C>A (n.234-2181C>A) n.302-2181C>A n.299-2181C>A c.151-2181C>A | dbSNP |