Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.27084901G>T | CA1240109526 | EMILIN1 | c.2558-90G>T (n.2558-90G>T) c.550-90G>T | dbSNP gnomAD v4 |
2 | g.27084901G>C | CA11061185 | EMILIN1 | c.2558-90G>C (n.2558-90G>C) c.550-90G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27084901G>A | CA1240109528 | EMILIN1 | c.2558-90G>A (n.2558-90G>A) c.550-90G>A | dbSNP gnomAD v4 |