Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.47585586T>C | CA10398605 | SYN1,TIMP1 | c.372T>C (p.Phe124=) c.775-8085A>G (n.775-8085A>G) c.180T>C (p.Phe60=) c.245T>C c.*172T>C (n.*172T>C) c.354T>C (p.Phe118=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47585586T>A | CA412816487 | SYN1,TIMP1 | c.372T>A (p.Phe124Leu) c.775-8085A>T (n.775-8085A>T) c.180T>A (p.Phe60Leu) c.245T>A c.*172T>A (n.*172T>A) c.354T>A (p.Phe118Leu) | dbSNP |