Putative mutations | Exon 6 | c.2030 | G→A | Arg677His | Heterozygous change in 1/79 individuals | |
Exon 7 | c.3040 | A→G | Lys1014Glu | Heterozygous change in 1/79 individuals | |
| Exon 8 | c.3191 | G→A | Arg1064Gln | Heterozygous change in 1/79 individuals | |
| Exon 9 | c.4156 | G→A | Glu1386Lys | Heterozygous change in 1/79 individuals | |
| Exon 9 | c.4184 | G→A | Arg1395Gln | Heterozygous change in 1/79 individuals | |
| Exon 10 | c.4399 | A→G | Asn1467Asp | Heterozygous change in 1/79 individuals | |
| Exon 11 | c.5020 | G→A | Asp1674Asn | Heterozygous change in 1/79 individuals | |
| Exon 11 | c.5036 | G→A | Gly1679Glu | Heterozygous change in 1/79 individuals | § |
| Exon 14 | c.5953 | G→A | Val1985Met | Heterozygous change in 1/79 individuals | |
| Exon 15 | c.6140 | G→A | Gly2047Asp | Heterozygous change in 2/79 individuals* | |
| Intron 15 | c.6156+1 | G→A | Splice donor GTA to ATA | Heterozygous change in 1/79 individuals | |
| Exon 16 | c.6157−9_6177del30 | Involves splice acceptor site | Heterozygous change in 1/78 individuals | |
| Intron 16 | c.6210+1 | G→A | Splice donor GTA to ATA | Heterozygous change in 3/78 individuals | |
| Exon 17 | c.6239 | G→A | Gly2080Asp | Heterozygous change in 1/79 individuals | |
| Exon 27 | c.6816 | G→A | Nucleotide adjacent to splice donor | Homozygous change in 1/79 individuals | |
| Exon 40 | c.8822 | C→T | Ala2941Val | Heterozygous change in 1/79 individuals | |
Probable polymorphisms | Exon 4 | c.768 | C→T | Synonymous Val256Val | 3/158 chromosomes | |
| Exon 4 | c.1182 | C→T | Synonymous Thr394Thr | 1/158 chromosomes | |
| Exon 4 | c.1231 | C→G | Non-synonymous Leu411Val | 2/158 chromosomes† | |
| Exon 5 | c.1389 | C→T | Synonymous Ala463Ala | 1/158 chromosomes | |
| Exon 5 | c.1471 | G→C | Non-synonymous Asp491His | 1/158 chromosomes | ¶ |
| Exon 5 | c.1475 | C→G | Non-synonymous Thr492Ser | 1/158 chromosomes | ¶ |
| Exon 6 | c.2419 | G→A | Non-synonymous Ala807Thr | 2/158 chromosomes‡ | |
| Exon 6 | c.2463 | T→C | Synonymous Ser821Ser | 1/158 chromosomes | |
| Exon 6 | c.2488 | G→T | Non-synonymous Ala830Ser | 2/158 chromosomes‡ | |
| Exon 8 | c.3087 | C→T | Synonymous Asp1029Asp | 2/158 chromosomes | |
| Exon 8 | c.3129 | C→T | Synonymous Gly1043Gly | 40/158 chromosomes | |
| Exon 8 | c.3262 | A→C | Non-synonymous Lys1088Gln | 2/158 chromosomes‡ | |
| Exon 9 | c.4107 | C→T | Synonymous Ile1369Ile | 1/158 chromosomes | |
| Intron 9 | c.4285+17 | G→A | | 2/156 chromosomes | ‡‡ |
| Exon 10 | c.4311 | T→C | Synonymous Ile1437Ile | 42/158 chromosomes | ‡‡ |
| Exon 10 | c.4533 | G→T | Synonymous Gly1511Gly | 34/158 chromosomes | ‡‡ |
| Exon 10 | c.4727 | G→A | Non-synonymous Arg1576Gln | 2/158 chromosomes | ¶ |
| Exon 10 | c.4895 | G→A | Non-synonymous Arg1632Gln | 2/158 chromosomes‡ | |
| Exon 11 | c.5059 | C→T | Non-synonymous Pro1687Ser | 1/158 chromosomes† | |
| Intron 14 | c.6063+6 | insT | | 32/156 chromosomes | |
| Intron 14 | c.6003+100 | insG | | 69/158 chromosomes | |
| Intron 15 | c.6156+4 | C→T | | 7/158 chromosomes | |
| Exon 20 | c.6369 | G→A | Synonymous Leu2123Leu | 27/158 chromosomes | ‡‡ |
| Exon 24 | c.6618 | C→T | Synonymous Pro2206Pro | 1/158 chromosomes | |
| Exon 25 | c.6653 | C→T | Non-synonymous Pro2218Leu | 13/158 chromosomes | ** |
| Exon 28 | c.6855 | G→C | Synonymous Gly2285Gly | 77/158 chromosomes | ‡‡ |
| Intron 28 | c.6879+33 | C→T | | 1/158 chromosomes | |
| Intron 29 | c.6930+28 | C→T | | 4/158 chromosomes | |
| Intron 29 | c.6930+43 | G→C | | 13/158 chromosomes | ‡‡ |
| Exon 30 | c.6945 | C→T | Synonymous Phe2315Phe | 13/158 chromosomes | ‡‡ |
| Exon 31 | c.6981 | A→G | Synonymous Glu2327Glu | 1/158 chromosomes | |
| Exon 32 | c.7086 | A→C | Synonymous Gly2362Gly | 1/158 chromosomes | |
| Intron 32 | c.7092+26 | G→A | | 22/158 chromosomes | ‡‡ |
| Intron 35 | c.7175−32 | G→A | | 7/156 chromosomes | |
| Exon 36 | c.7329 | C→T | Synonymous Ala2443Ala | 9/154 chromosomes | |
| Exon 36 | c.7509 | G→A | Synonymous Arg2503Arg | 3/154 chromosomes | |
| Exon 36 | c.7512 | C→T | Synonymous Asn2504Asn | 14/154 chromosomes | ‡‡ |
| Exon 36 | c.7596 | G→A | Synonymous Lys2532Lys | 17/156 chromosomes | ‡‡ |
| Intron 36 | c.7668+21 | G→C | | 1/146 chromosomes | |
| Intron 36 | c.7669−35 | C→T | | 15/154 chromosomes | |
| Exon 38 | c.7842 | C→T | Synonymous Ser2614Ser | 12/154 chromosomes | |
| Exon 38 | c.7929 | G→A | Synonymous Ala2643Ala | 55/154 chromosomes | |
| Exon 38 | c.7995 | A→C | Synonymous Ala2665Ala | 1/156 chromosomes | |
| Exon 38 | c.8145 | A→G | Synonymous Leu2715Leu | 1/156 chromosomes | |
| Exon 38 | c.8346 | G→A | Synonymous Glu2782Glu | 1/158 chromosomes | |
| Exon 38 | c.8451 | A→G | Synonymous Pro2817Pro | 12/156 chromosomes | |
| Intron 38 | c.8465−34 | C→T | | 1/158 chromosomes | |
| Exon 39 | c.8491 | G→C | Non-synonymous Asp2831His | 15/156 chromosomes | †† |
| Exon 40 | c.8780 | T→C | Non-synonymous Met2927Thr | 66/154 chromosomes | ** |
| Exon 40 | c.8820 | G→A | Synonymous Thr2940Thr | 12/156 chromosomes | |
| Exon 40 | c.8868_8869 | insTGC | insAla2957 | 139/146 chromosomes | ** |
| Exon 41 | c.9031 | G→C | Non-synonymous Ala3011Pro | 42/156 chromosomes | ‡‡ |
| Exon 41 | c.9120 | G→A | Synonymous Thr3040Thr | 11/158 chromosomes | |
| Exon 41 | c.9125 | G→A | Non-synonymous Arg3042His | 1/156 chromosomes† | |
| Exon 41 | c.9126 | C→T | Synonymous Arg3042Arg | 8/158 chromosomes | |
| Exon 41 | c.9144 | C→T | Synonymous Leu3048Leu | 1/158 chromosomes | |
| Exon 41 | c.9203 | C→T | Non-synonymous Thr3068Ile | 47/156 chromosomes | ** |
| Exon 41 | c.9210 | C→T | Synonymous His3070His | 13/158 chromosomes | |
| Intron 42 | c.9325+8 | G→T | | 1/158 chromosomes | |
| Exon 43 | c.9408 | T→C | Synonymous Cys3136Cys | 4/158 chromosomes | |
| Exon 43 | c.9414 | A→G | Synonymous Arg3138Arg | 1/158 chromosomes | |
| Intron 43 | c.9491−26 | C→T | | 51/158 chromosomes | |