Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47332576C>T | CA16042795 | MYBPC3 | c.3617G>A (p.Gly1206Asp) c.3599G>A (p.Gly1200Asp) c.3536G>A (p.Gly1179Asp) | ClinVar dbSNP gnomAD v4 |
11 | g.47332576C>A | CA054375 | MYBPC3 | c.3617G>T (p.Gly1206Val) c.3599G>T (p.Gly1200Val) c.3536G>T (p.Gly1179Val) | ClinVar dbSNP |
11 | g.47332576C= | CA1969334064 | MYBPC3 | c.3617G= (p.Gly1206=) c.3599G= (p.Gly1200=) c.3536G= (p.Gly1179=) | dbSNP |