Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23420225C>G | CA257815839 | MYH7 | c.3346G>C (p.Glu1116Gln) n.3454G>C | ClinVar dbSNP gnomAD v4 |
14 | g.23420225C>T | CA013624 | MYH7 | c.3346G>A (p.Glu1116Lys) n.3454G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23420225C>A | CA389044197 | MYH7 | c.3346G>T (p.Glu1116Ter) n.3454G>T | ClinVar dbSNP gnomAD v4 |
14 | g.23420225C= | CA2123447296 | MYH7 | c.3346G= (p.Glu1116=) n.3454G= | dbSNP |