Sample | Position | Base change | Amino acid change | Reported |
---|---|---|---|---|
TX49 | c.2488 | G>A | p.D830N | No |
 | c.2488 | G>A | p.D830N | No |
 | c.2499 | G>A | p.L833L | No |
 | c.2502 | G>A | p.V834V | No |
 | c.2506 | C>T | p.R836C | Yes |
 | c.2507 | G>T | p.R836L | No |
 | c.2519 | C>T | p.A840V | No |
 | c.2526 | C>T | p.N842N | No |
 | c.2577 | C>T | p.A859A | No |
 | c.2581 | C>T | p.L861L | No |
 | c.2593 | G>A | p.E865K | Yes |
 | c.2603 | A>G | p.E868G | Yes |
 | c.2625+1 | G>A | - | No |