| Mutation (NM_007126.5) | Predicted protein change | Mutation alias |
| Exon 1 | c.266G>A | p.R89Q | R89Q |
| Exon 1 | c.271A>T | p.N91Y | N91Y |
| Exon 1 | c.277C>T | p.R93C | R93C |
| Exon 1 | c.278G>A | p.R93H | R93H |
| Exon 1 | c.283C>G | p.R95C (C>G) | R95C (C>G) |
| Exon 1 | c.283C>T | p.R95C (C>T) | R95C (C>T) |
| Exon 2 | c.290G>A | p.G97E | G97E |
| Exon 2 | c.294T>A | p.D98E | D98E |
| Exon 2 | c.296T>A | p.V99D | V99D |
| Exon 2 | c.353C>T | p.P118L | P118L |
| Exon 2 | c.374G>A | p.G125D | G125D |
| Exon 2 | c.379G>A | p.T127A | T127A |
| Exon 2 | c.383G>C | p.G128A | G128A |
| Exon 2 | c.382G>T | p.G128C | G128C |
| Exon 3 | c.409C>T | p.P137S | P137S |
| Exon 3 | c.410C>T | p.P137L | P137L |
| Exon 3 | c.451A>G | p.I151V | I151V |
| Exon 3 | c.463C>G | p.R155G | R155G |
| Exon 3 | c.463C>T | p.R155C | R155C |
| Exon 3 | c.464G>A | p.R155H | R155H |
| Exon 3 | c.464G>C | p.R155P | R155P |
| Exon 3 | c.469G>C | p.G157R | G157R |
| Exon 3 | c.472A>G | p.M158V | M158V |
| Exon 3 | c.474G>A | p.M158I | M158I |
| Exon 3 | c.475C>A | p.R159S | R159S |
| Exon 3 | c.475C>G | p.R159G | R159G |
| Exon 3 | c.475C>T | p.R159C | R159C |
| Exon 3 | c.476G>A | p.R159H | R159H |
| Exon 3 | c.478G>C | p.A160P | A160P |
| Exon 3 | c.553G>A | p.E185K | E185K |
| Exon 3 | c.572G>A | p.R191Q | R191Q |
| Exon 3 | c.572G>C | p.R191P | R191P |
| Exon 4 | c.593T>G | p.L198W | L198W |
| Exon 4 | c.604G>T | p.G202W | G202W |
| Exon 4 | c.616A>T | p.I206F | I206F |
| Exon 4 | c.695C>A | p.A232E | A232E |
| Exon 5 | c.784A>G | p.T262A | T262A |
| Exon 5 | c.784A>T | p.T262S | T262S |
| Exon 8 | c.1315G>C | p.A439P | A439P |
| Exon 8 | c.1315G>T | p.A439S | A439S |
| Exon 8 | c.1316C>G | p.A439G | A439G |
| Exon 10 | c.1460G>A | p.R487H | R487H |
| Exon 13 | c.1774G>A | p.D592N | D592N |
| Exon 14 | c.2077C>T | p.R693C | R693C |
