Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.15737509A>G | CA214156 | MYH11 | c.3233T>C (p.Ile1078Thr) c.3254T>C (p.Ile1085Thr) c.*1416T>C (n.*1416T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.15737509A>T | CA394862967 | MYH11 | c.3233T>A (p.Ile1078Asn) c.3254T>A (p.Ile1085Asn) c.*1416T>A (n.*1416T>A) | dbSNP |
16 | g.15737509A= | CA2209920952 | MYH11 | c.3233T= (p.Ile1078=) c.3254T= (p.Ile1085=) c.*1416T= (n.*1416T=) | dbSNP |