| No. | Region | Codon | Nucleotide change | Amino acid or other change change | Restriction site alteration | Allele frequency | Reference | |
| 1 | 5'UTR | -512nt | c.-514_-511dup | MboII | Azevedo et al. [2003] | |||
| 2 | 5'UTR | c.-441G>A | Azevedo et al. [2003] | |||||
| 3 | 5'UTR | c.-365G>A | TseI Fnu4HI BbvI | Azevedo et al. [2003] | ||||
| 4 | 5'UTR | c.-339A>G | Azevedo et al. [2003] | |||||
| 5 | Exon 1 | 12 | c.34G>A | p.Ala12Thr | TseI CviRI Fnu4HI BbvI | Tanaka et al. [2005] | ||
| 6 | Exon 2 | 46 | c.137A>G | p.Lys46Arg | DdeI | Grompe et al. [1989] | ||
| 7 | Intron 2 | c.217-54insA | Matsuura et al. [1993] | |||||
| 8 | Exon 3 | 78 | c.234A>G | p.Gln78Gln | 1.00/0.00 | Climent and Rubio [2002a] | ||
| 9 | Intron 3 | c.299-39_40insT | 0.66/0.34 | Climent and Rubio [2002a] | ||||
| 10 | c.299-16_17insT | 0.00/1.00 | Climent and Rubio [2002a] | |||||
| 11 | c.299-17insT | Matsuura et al. [1993] | ||||||
| 12 | c.299-8A>T | MseI Tsp509I | 0.50/0.50 | Tuchman and Plante [1995] | ||||
| 13 | Exon 4 | 101 | c.303A>T | p.Leu101Pheb | EspI, DdeI | 0.99/0.01 | Tuchman and Plante [1995] | |
| 14 | 111 | c.332T>C | p.Leu111Pro | 1.00/0.00 | Grompe et al. [1991] | |||
| 15 | Intron 4 | c.386+8A>G | SspI | 0.98/0.02 | Tuchman and Plante [1995] | |||
| 16 | c.387-7A>G | 0.71/0.29 | Matsuura et al. [1993] | |||||
| 17 | Exon 5 | 143 | c.429T>C | p.Tyr143Tyr | TatI, RsaI | 0.98/0.02 | Plante and Tuchman [1998] | |
| 18 | 151 | c.453G>T | p.Leu151Leu | SecI BssKI EcoRII ScrFI BseBI CviJI | 1.00/0.00 | Climent and Rubio [2002a] | ||
| 19 | Intron 5 | c.541-63G>A | DdeI, MseI | Azevedo et al. [2003] | ||||
| 20 | Exon 6 | 193 | c.579G>T | p.Trp193Cys | BsiYI MboI DpnI BstKTI BinI | 1.00/0.00 | Climent and Rubio [2002a] | |
| 21 | 194 | c.580A>T | p.Ile194Phe | MboI DpnI BstKTI BinI | 1.00/0.00 | Climent and Rubio [2002a] | ||
| 22 | 195 | c.585G>A | p.Gly195Gly | FokI, BstF5I | 1.00/0.00 | Tuchman et al. [1998] | ||
| 23 | Exon 8 | 270 | c.809A>G | p.Gln270Arg | 0.875/0.125 | Tuchman et al. [1992] | ||
| 24 | 279 | c.837G>A | p.Gln279Gln | Eco57MI GsuI BssKI EcoRII BseBI ScrFI HindIII AluI CviJI | 1.00/0.00 | Climent and Rubio [2002a] | ||
| 25 | 285 | c.855G>A | p.Gln285Gln | SexAI BssKI EcoRII BSeBI ScrFI | 1.00/0.00 | Climent and Rubio [2002a] | ||
| 26 | Intron 8 | c.867+35G>T | 0.62/0.38 | Azevedo et al. [2002] | ||||
| 27 | Exon 9 | 333 | c.997A>G | p.Thr333Ala | Climent and Rubio [2002a] | |||
| 28 | Intron 9 | c.1006-70C>T | HphI EcoNI BsiYI | Azevedo et al. [2003] | ||||
| 29 | c.1006-12G>T | 1.00/0.00 | Matsuura et al. [1993] | |||||
| aThe reference sequence used is RefSeq NM_000531.3 | ||||||||
| bIn RefSeq NM_000531.3 position 101 is a Phe. We more commonly see Leu at this position. | ||||||||
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