| Mutation (NM_007375.3) | Predicted protein change | Mutation alias |
| Exon 3 | c.506A>G | p.D169G | D169G |
| Exon 5 | c.787A>G | p.K263E | K263E |
| Exon 5 | c.800A>G | p.N267S | N267S |
| Exon 6 | c.859G>A | p.G287S | G287S |
| Exon 6 | c.869G>C | p.G290A | G290A |
| Exon 6 | c.871A>C | p.N291H | N291H |
| Exon 6 | c.875G>A | p.S292N | S292N |
| Exon 6 | c.881G>C | p.G294A | G294A |
| Exon 6 | c.881G>T | p.G294V | G294V |
| Exon 6 | c.883G>A | p.G295S | G295S |
| Exon 6 | c.883G>C | p.G295R | G295R |
| Exon 6 | c.883G>T | p.G295C | G295C |
| Exon 6 | c.892G>A | p.G298S | G298S |
| Exon 6 | c.893G>T | p.G298V | G298V |
| Exon 6 | c.909A>C | p.Q303H | Q303H |
| Exon 6 | c.931A>G | p.M311V | M311V |
| Exon 6 | c.943G>A | p.A315T | A315T |
| Exon 6 | c.944C>A | p.A315E | A315E |
| Exon 6 | c.962C>A | p.A321D | A321D |
| Exon 6 | c.962C>G | p.A321G | A321G |
| Exon 6 | c.962C>T | p.A321V | A321V |
| Exon 6 | c.991C>A | p.Q331K | Q331K |
| Exon 6 | c.995G>A | p.S332N | S332N |
| Exon 6 | c.1004G>A | p.G335D | G335D |
| Exon 6 | c.1009A>G | p.M337V | M337V |
| Exon 6 | c.1028A>G | p.Q343R | Q343R |
| Exon 6 | c.1035C>A | p.N345K | N345K |
| Exon 6 | c.1042G>T | p.G348C | G348C |
| Exon 6 | c.1043G>T | p.G348V | G348V |
| Exon 6 | c.1055A>C | p.N352T | N352T |
| Exon 6 | c.1055A>G | p.N352S | N352S |
| Exon 6 | c.1060C>G | p.Q354E | Q354E |
| Exon 6 | c.1069G>A | p.G357S | G357S |
| Exon 6 | c.1069G>C | p.G357R | G357R |
| Exon 6 | c.1075A>G | p.M359V | M359V |
| Exon 6 | c.1082G>C | p.R361T | R361T |
| Exon 6 | c.1083G>C | p.R361S | R361S |
| Exon 6 | c.1087C>G | p.P363A | P363A |
| Exon 6 | c.1102G>A | p.G368S | G368S |
| Exon 6 | c.1120_1121insA | p.Y374X | Y374X (1120_1121insA) |
| Exon 6 | c.1122T>G | p.Y374X | Y374X (1122T>G) |
| Exon 6 | c.1127G>A | p.G376D | G376D |
| Exon 6 | c.1129T>C | p.S377P | S377P |
| Exon 6 | c.1132A>G | p.N378D | N378D |
| Exon 6 | c.1135T>C | p.S379P | S379P |
| Exon 6 | c.1135T>G | p.S379A | S379A |
| Exon 6 | c.1136C>G | p.S379C | S379C |
| Exon 6 | c.1144G>A | p.A382T | A382T |
| Exon 6 | c.1144G>C | p.A382P | A382P |
| Exon 6 | c.1147A>G | p.I383V | I383V |
| Exon 6 | c.1150G>C | p.G384R | G384R |
| Exon 6 | c.1153T>G | p.W385G | W385G |
| Exon 6 | c.1168A>G | p.N390D | N390D |
| Exon 6 | c.1169A>G | p.N390S | N390S |
| Exon 6 | c.1178C>T | p.S393L | S393L |
| 3'UTR | c.*83T>C | | 3'UTR(*83T>C) |
| 3'UTR | c.*697G>A | | 3'UTR(*697G>A) |
