| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.74068657G>A | CA132763 | ELN | c.2318G>A (p.Gly773Asp) c.2132G>A (p.Gly711Asp) c.2231G>A (p.Gly744Asp) c.1889G>A (p.Gly630Asp) c.2093G>A (p.Gly698Asp) c.1670G>A (p.Gly557Asp) c.2150G>A (p.Gly717Asp) c.1991G>A (p.Gly664Asp) c.2075G>A (p.Gly692Asp) c.1934G>A (p.Gly645Asp) c.2060G>A (p.Gly687Asp) c.2036G>A (p.Gly679Asp) c.2078G>A (p.Gly693Asp) c.2102G>A (p.Gly701Asp) c.1811G>A (p.Gly604Asp) c.2096G>A (p.Gly699Asp) c.2090G>A (p.Gly697Asp) c.2147G>A (p.Gly716Asp) c.2117G>A (p.Gly706Asp) c.2111G>A (p.Gly704Asp) c.2105G>A (p.Gly702Asp) c.2081G>A (p.Gly694Asp) c.2066G>A (p.Gly689Asp) c.2048G>A (p.Gly683Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.74068657G= | CA1717351522 | ELN | c.2318G= (p.Gly773=) c.2132G= (p.Gly711=) c.2231G= (p.Gly744=) c.1889G= (p.Gly630=) c.2093G= (p.Gly698=) c.1670G= (p.Gly557=) c.2150G= (p.Gly717=) c.1991G= (p.Gly664=) c.2075G= (p.Gly692=) c.1934G= (p.Gly645=) c.2060G= (p.Gly687=) c.2036G= (p.Gly679=) c.2078G= (p.Gly693=) c.2102G= (p.Gly701=) c.1811G= (p.Gly604=) c.2096G= (p.Gly699=) c.2090G= (p.Gly697=) c.2147G= (p.Gly716=) c.2117G= (p.Gly706=) c.2111G= (p.Gly704=) c.2105G= (p.Gly702=) c.2081G= (p.Gly694=) c.2066G= (p.Gly689=) c.2048G= (p.Gly683=) | dbSNP |