| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.50271424C>T | CA252133 | MYH14 | c.2950C>T (p.Leu984Phe) c.3049C>T (p.Leu1017Phe) c.-63C>T (n.-63C>T) c.2926C>T (p.Leu976Phe) c.-727-4567C>T (n.-727-4567C>T) c.3070C>T (p.Leu1024Phe) c.3046C>T (p.Leu1016Phe) c.2974C>T (p.Leu992Phe) | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.50271424C>G | CA406949764 | MYH14 | c.2950C>G (p.Leu984Val) c.3049C>G (p.Leu1017Val) c.-63C>G (n.-63C>G) c.2926C>G (p.Leu976Val) c.-727-4567C>G (n.-727-4567C>G) c.3070C>G (p.Leu1024Val) c.3046C>G (p.Leu1016Val) c.2974C>G (p.Leu992Val) | dbSNP gnomAD v4 |
| 19 | g.50271424C= | CA2340818751 | MYH14 | c.2950C= (p.Leu984=) c.3049C= (p.Leu1017=) c.-63C= (n.-63C=) c.2926C= (p.Leu976=) c.-727-4567C= (n.-727-4567C=) c.3070C= (p.Leu1024=) c.3046C= (p.Leu1016=) c.2974C= (p.Leu992=) | dbSNP |