| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.58665172C>G | CA7585715 | ADAM10 | c.510G>C (p.Gln170His) c.336G>C c.56-24342G>C (n.56-24342G>C) c.351G>C (p.Gln117His) n.627G>C n.746G>C c.56-67654G>C (n.56-67654G>C) c.288G>C (p.Gln96His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58665172C>A | CA392621947 | ADAM10 | c.510G>T (p.Gln170His) c.336G>T c.56-24342G>T (n.56-24342G>T) c.351G>T (p.Gln117His) n.627G>T n.746G>T c.56-67654G>T (n.56-67654G>T) c.288G>T (p.Gln96His) | dbSNP |
| 15 | g.58665172C= | CA2180476273 | ADAM10 | c.510G= (p.Gln170=) c.336G= c.56-24342G= (n.56-24342G=) c.351G= (p.Gln117=) n.627G= n.746G= c.56-67654G= (n.56-67654G=) c.288G= (p.Gln96=) | dbSNP |
| 15 | g.58665172C>T | CA490492327 | ADAM10 | c.510G>A (p.Gln170=) c.336G>A c.56-24342G>A (n.56-24342G>A) c.351G>A (p.Gln117=) n.627G>A n.746G>A c.56-67654G>A (n.56-67654G>A) c.288G>A (p.Gln96=) | dbSNP gnomAD v4 |