Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.169364845G>A | CA11598034 | MECOM | c.375+16342C>T (n.375+16342C>T) n.621+16342C>T c.-189-221013C>T (n.-189-221013C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.169364845G>T | CA1419392052 | MECOM | c.375+16342C>A (n.375+16342C>A) n.621+16342C>A c.-189-221013C>A (n.-189-221013C>A) | dbSNP |