| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.50210385C>T | CA406945610 | MYH14 | c.20C>T (p.Ser7Leu) c.-2149C>T (n.-2149C>T) c.140C>T (p.Ser47Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.50210385C>A | CA252130 | MYH14 | c.20C>A (p.Ser7Ter) c.-2149C>A (n.-2149C>A) c.140C>A (p.Ser47Ter) | ClinVar dbSNP gnomAD v4 |
| 19 | g.50210385C= | CA2340790403 | MYH14 | c.20C= (p.Ser7=) c.-2149C= (n.-2149C=) c.140C= (p.Ser47=) | dbSNP |