| Mutation (NM_001123066.3) | Predicted protein change | Mutation alias |
| Exon 1 | c.14G>A | p.R5H (p.R5H) | R5H |
| Exon 1 | c.14G>T | p.R5L (p.R5L) | R5L |
| Exon 2 | c.163G>A | p.G55R (p.G55R) | G55R |
| Exon 9 | c.1759G>T | p.D252Y (p.D587Y) | D252Y |
| Exon 9 | c.1760A>T | p.D252V (p.D587V) | D252V |
| Exon 9 | c.1775A>C | p.K257T (p.K592T) | K257T |
| Exon 9 | c.1783A>G | p.I260V (p.I595V) | I260V |
| Exon 9 | c.1801C>G | p.L266V (p.L601V) | L266V |
| Exon 9 | c.1816G>C | p.G271R (p.G606R) | G271R |
| Exon 9 | c.1820G>T | p.G272V (p.G607V) | G272V |
| Exon 9 | c.1822G>A | p.G273R (p.G608R) | G273R |
| Intron 9 | c.1828-15T>C | | IVS9-15T>C |
| Intron 9 | c.1828-11G>C | | IVS9-11G>C |
| Intron 9 | c.1828-10G>C | | IVS9-10G>C |
| Intron 9 | c.1828-10G>T | | IVS9-10G>T |
| Exon 10 | c.1842T>G | p.N279K (p.N614K) | N279K |
| Exon 10 | c.1857T>C | p.L284 (p.L619) | L284L |
| Exon 10 | c.1856T>G | p.L284R (p.L619R) | L284R |
| Exon 10 | c.1858A>C | p.S285R (p.S620R) | S285R |
| Exon 10 | c.1876T>C | p.C291R (p.C626R) | C291R |
| Exon 10 | c.1891A>C | p.N296H (p.N631H) | N296H |
| Exon 10 | c.1891A>G | p.N296D (p.N631D) | N296D |
| Exon 10 | c.1892_1894delATA | p.N296del (p.N631del) | delN296 |
| Exon 10 | c.1893T>C | p.N296 (p.N631) | N296N |
| Exon 10 | c.1897A>G | p.K298E (p.K633E) | K298E |
| Exon 10 | c.1906C>A | p.P301T (p.P636T) | P301T |
| Exon 10 | c.1906C>T | p.P301S (p.P636S) | P301S |
| Exon 10 | c.1907C>T | p.P301L (p.P636L) | P301L |
| Exon 10 | c.1913G>T | p.G303V (p.G638V) | G303V |
| Exon 10 | c.1915G>A | p.G304S (p.G639S) | G304S |
| Exon 10 | c.1919G>A | p.S305N (p.S640N) | S305N |
| Exon 10 | c.1919G>T | p.S305I (p.S640I) | S305I |
| Exon 10 | c.1920T>C | p.S305 (p.S640) | S305S |
| Intron 10 | c.1920+3G>A | | IVS10+3G>A |
| Intron 10 | c.1920+4A>C | | IVS10+4A>C |
| Intron 10 | c.1920+11T>C | | IVS10+11T>C |
| Intron 10 | c.1920+12C>T | | IVS10+12C>T |
| Intron 10 | c.1920+12C>A | | IVS10+12C>A |
| Intron 10 | c.1920+13A>G | | IVS10+13A>G |
| Intron 10 | c.1920+14C>T | | IVS10+14C>T |
| Intron 10 | c.1920+15A>C | | IVS10+15A>C |
| Intron 10 | c.1920+16C>T | | IVS10+16C>T |
| Intron 10 | c.1920+19C>G | | IVS10+19C>G |
| Exon 11 | c.1949T>G | p.L315R (p.L650R) | L315R |
| Exon 11 | c.1950G>A | p.L315 (p.L650) | L315L |
| Exon 11 | c.1955A>T | p.K317M (p.K652M) | K317M |
| Exon 11 | c.1964C>T | p.S320F (p.S655F) | S320F |
| Exon 11 | c.1999C>T | p.P332S (p.P667S) | P332S |
| Exon 11 | c.2002G>A | p.G333R (p.G668R) | G333R |
| Exon 12 | c.2008G>A | p.G335S (p.G670S) | G335S |
| Exon 12 | c.2009G>T | p.G335V (p.G670V) | G335V |
| Exon 12 | c.2012A>G | p.Q336R (p.Q671R) | Q336R |
| Exon 12 | c.2013G>C | p.Q336H (p.Q671H) | Q336H |
| Exon 12 | c.2014G>A | p.V337M (p.V672M) | V337M |
| Exon 12 | c.2030A>T | p.E342V (p.E677V) | E342V |
| Exon 12 | c.2057A>G | p.Q351R (p.Q686R) | Q351R |
| Exon 12 | c.2060C>T | p.S352L (p.S687L) | S352L |
| Exon 12 | c.2063A>T | p.K688M (p.K353M) | K353M |
| Exon 12 | c.2071T>A | p.S356T (p.S691T) | S356T |
| Exon 12 | c.2092G>A | p.V363I (p.V698I) | V363I |
| Exon 12 | c.2093T>C | p.V363A (p.V698A) | V363A |
| Exon 12 | c.2095C>T | p.P364S (p.P699S) | P364S |
| Exon 12 | c.2101G>A | p.G366R (p.G701R) | G366R |
| Exon 12 | c.2111A>T | p.K369I (p.K704I) | K369I |
| Exon 13 | c.2120A>G | p.E372G (p.E707G) | E372G |
| Exon 13 | c.2170G>A | p.G389R (p.G724R) | G389R (2170G>A) |
| Exon 13 | c.2170G>C | p.G389R (p.G724R) | G389R (2170G>C) |
| Exon 13 | c.2194C>T | p.P397S (p.P732S) | P397S |
| Exon 13 | c.2221C>T | p.R406W (p.R741W) | R406W |
| Exon 13 | c.2233A>C | p.N410H (p.N745H) | N410H |
| Exon 13 | c.2275C>A | p.Q424K (p.Q759K) | Q424K |
| Exon 13 | c.2285C>T | p.T427M (p.T762M) | T427M |
