Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.124973845C>A | CA435322498 | HEG1 | c.4182G>T (p.Pro1394=) c.3882G>T (p.Pro1294=) n.2745G>T c.63G>T (p.Pro21=) c.534G>T (p.Pro178=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.124973845C>T | CA2583467 | HEG1 | c.4182G>A (p.Pro1394=) c.3882G>A (p.Pro1294=) n.2745G>A c.63G>A (p.Pro21=) c.534G>A (p.Pro178=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |