Variant ID | 5′ Sequence | Genetic Variation | 3′ Sequence | Region | Amino Acid Change | CA | KO | JA | Total | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
n | % | n | % | n | % | n | % | ||||||||||
43 | TCAATGCAC | g.-7676A>T | GTCTCACAA | PromA | 110 | 0.9 | 96 | 0.0 | 88 | 0.0 | 294 | 0.3 | |||||
44 | CTACCCTCT | g.-7554T>C | CAATGCCTC | PromA | 110 | 0.9 | 96 | 0.0 | 88 | 0.0 | 294 | 0.3 | |||||
45 | GAGTGAAGT | g.-7253G>A | TAGAAATCT | PromA | 106 | 0.0 | 96 | 1.0 | 94 | 0.0 | 296 | 0.3 | |||||
46 | AATTTAGAA | g.-7114A>T | ACTCAATAG | PromA | 108 | 0.0 | 96 | 1.0 | 94 | 0.0 | 298 | 0.3 | |||||
1 | AAGAGGAAA | g.-7094G>C | TTTCTTGTA | PromA | 108 | 13.0 | 96 | 30.2 | 94 | 24.5 | 298 | 22.1 | |||||
47 | CAAGAATTT | g.-6816C>T | ATTAGGCAA | PromA | 102 | 0.0 | 96 | 1.0 | 92 | 0.0 | 290 | 0.3 | |||||
48 | GAGAGAGAG | g.-6639A>C | GAGCTGAAT | PromA | 110 | 0.9 | 90 | 0.0 | 92 | 0.0 | 292 | 0.3 | |||||
49 | GAGAGAGAG | g.-6637_-6636 delAG | CTGAATCAG | PromA | 110 | 0.0 | 90 | 1.1 | 92 | 0.0 | 292 | 0.3 | |||||
2 | GTGCCTTTG | g.-6588G>T | GTGTGCTGG | PromA | 110 | 2.7 | 88 | 0.0 | 92 | 2.2 | 290 | 1.7 | |||||
3 | AAAGAAGAA | g.-6540C>T | GAAACCAAA | PromA | 108 | 14.8 | 86 | 26.7 | 90 | 27.8 | 284 | 22.5 | |||||
4 | TTAGTGACC | g.-6325A>G | AAAGTTTGG | PromA | 108 | 17.6 | 90 | 31.1 | 92 | 26.1 | 290 | 24.5 | |||||
5 | ATTCTTTTT | g.-6014G>T | TACAAACCC | PromA | 108 | 16.7 | 94 | 28.7 | 88 | 26.1 | 290 | 23.4 | |||||
50 | ACTGGTGCT | g.-5941G>A | TGGGCACTA | PromA | 108 | 0.0 | 94 | 0.0 | 88 | 1.1 | 290 | 0.3 | |||||
6 | TGAAGTCAC | g.-5859G>A | TGGCCAGAG | PromA | 108 | 16.7 | 94 | 28.7 | 88 | 26.1 | 290 | 23.4 | |||||
7 | ATGAGATGA | g.-5717T>C | ATATATGTG | PromA | 110 | 0.0 | 92 | 1.1 | 86 | 3.5 | 288 | 1.4 | |||||
8 | CCTTCTTTA | g.-5610T>C | ATGCCTAAA | PromA | 110 | 100.0 | 96 | 100.0 | 94 | 97.9 | 300 | 99.3 | |||||
9 | TAAGTGTGG | g.-5570G>C | CAGCAATTA | PromA | 110 | 12.7 | 96 | 29.2 | 94 | 24.5 | 300 | 21.7 | |||||
51 | TACTCTCAC | g.-5509G>A | GCTCTTATG | PromA | 110 | 0.0 | 96 | 1.0 | 94 | 0.0 | 300 | 0.3 | |||||
10 | CTCTCTTGT | g.-5236C>T | TGAGTAATA | PromA | 108 | 15.7 | 90 | 27.8 | 94 | 26.6 | 292 | 22.9 | |||||
52 | GAGGATAAA | g.-2551A>T | AAGAAAGAT | PromB | 126 | 0.0 | 88 | 0.0 | 90 | 1.1 | 304 | 0.3 | |||||
11 | AGCCTTACA | g.-2478T>G | CAATGCATA | PromB | 126 | 4.8 | 88 | 0.0 | 90 | 2.2 | 304 | 2.6 | |||||
12 | GAAGGAATT | g.-1921T>C | GGGTTGATT | PromB/Exon -3 | 122 | 4.9 | 92 | 0.0 | 82 | 1.2 | 296 | 2.4 | |||||
53 | GAAGAGAAT | g.-1899C>A | CTCATGGTC | PromB/Exon -3 | 122 | 0.8 | 92 | 0.0 | 82 | 0.0 | 296 | 0.3 | |||||
13 | ATCCTAATA | g.-1603A>T | CACCCTTAT | PromB | 128 | 0.0 | 94 | 2.1 | 86 | 1.2 | 308 | 1.0 | |||||
14 | TTTATAGAT | g.-1584C>T | CAATGACTG | PromB/Exon -2 | 118 | 11.0 | 94 | 29.8 | 74 | 23.0 | 286 | 20.3 | |||||
54 | ACACCAGGG | g.-1510T>G | CCACCCAGC | PromB | 126 | 0.0 | 94 | 1.1 | 68 | 0.0 | 288 | 0.3 | |||||
15 | CTTATACCA | g.-1484T>C | GCTCTGCTT | PromB | 126 | 0.0 | 94 | 1.1 | 68 | 5.9 | 288 | 1.7 | |||||
55 | TTTGAAAGT | g.-1146C>T | TCCGGTTTC | PromB | 126 | 0.0 | 92 | 1.1 | 82 | 0.0 | 300 | 0.3 | |||||
16 | TGGTAGGAG | g.-1031C>T | AGAGACAAT | PromB | 126 | 11.1 | 92 | 30.4 | 82 | 24.4 | 300 | 20.7 | |||||
56 | GAGACAATT | g.-1020C>G | AATACAGAC | PromB | 126 | 0.0 | 92 | 1.1 | 82 | 0.0 | 300 | 0.3 | |||||
17 | ATTCAATAC | g.-1014A>G | GACAGAAGT | PromB | 126 | 13.5 | 92 | 30.4 | 82 | 24.4 | 300 | 21.7 | |||||
18 | GAACTGGGG | g.-682A>C | TGCGGAAGC | PromB/Exon -1 | 124 | 1.6 | 70 | 0.0 | 64 | 0.0 | 258 | 0.8 | |||||
19 | AGGCTCCAG | g.-495C>G | CTGATCTCG | PromB | 126 | 17.5 | 86 | 29.1 | 84 | 28.6 | 296 | 24.0 | |||||
20 | GCGCCCCGG | g.-414C>T | GGCAAGAGC | PromB | 126 | 4.8 | 86 | 3.5 | 84 | 6.0 | 296 | 4.7 | |||||
21 | GGCAGGCTG | g.-395C>G | GCCCCTGGC | PromB | 126 | 13.5 | 86 | 3.5 | 84 | 6.0 | 296 | 8.4 | |||||
22 | GCCCGCGCC | g.-378T>C | AGCCTGGGG | PromB | 126 | 26.2 | 86 | 27.9 | 84 | 20.2 | 296 | 25.0 | |||||
57 | GCGTTTCCC | g.-292G>T | GGCCGGACG | PromB | 128 | 0.0 | 96 | 0.0 | 92 | 1.1 | 316 | 0.3 | |||||
58 | CCGGACGCG | g.-280C>A | GTGGGGGGC | PromB | 126 | 0.8 | 86 | 0.0 | 84 | 0.0 | 296 | 0.3 | |||||
59 | CCCTGCCAG | g.-186A>G | CACGCGCGA | PromB/Exon 1 | 128 | 0.0 | 96 | 1.0 | 92 | 0.0 | 316 | 0.3 | |||||
23 | TGCCCCCGG | g.-75G>T | CCCCGCGAC | PromB | 128 | 0.0 | 96 | 0.0 | 92 | 1.1 | 316 | 0.3 | |||||
24 | TTTATGTCG | g.12597C>T | TGGGTACCA | Exon 4 | L59L | 126 | 12.7 | 96 | 25.0 | 94 | 21.3 | 316 | 19.0 | ||||
60 | CAAATTTGT | g.12680T>G | GATACTGCA | Exon 4 | V86V | 126 | 0.0 | 96 | 0.0 | 94 | 1.1 | 316 | 0.3 | ||||
61 | ATTTGTTGA | g.12683T>G | ACTGCAGGA | Exon 4 | D87E | 126 | 0.0 | 96 | 0.0 | 94 | 1.1 | 316 | 0.3 | ||||
62 | TTCTCCTTT | g.12705C>T | CAGGTAAGC | Exon 4 | P95S | 126 | 0.0 | 96 | 0.0 | 94 | 1.1 | 316 | 0.3 | ||||
63 | TAGCTTTCA | g.20782T>G | ACATTTAAA | Intron 4 | 114 | 0.0 | 88 | 1.1 | 70 | 0.0 | 272 | 0.4 | |||||
25 | TTTTAAAAA | g.20813C>T | CTGGCAATG | Intron 4 | 116 | 3.4 | 90 | 1.1 | 70 | 0.0 | 276 | 1.8 | |||||
26 | TCACCTATT | g.21044A>G | TTATCATTT | Intron 5 | 122 | 16.4 | 52 | 15.4 | 46 | 32.6 | 220 | 19.5 | |||||
27 | AAAAGAAAA | g.22281_22284delGAAAA | AAGAAAAGA | Intron 5 | 126 | 7.9 | 88 | 0.0 | 84 | 0.0 | 298 | 3.4 | |||||
28 | TGACATCAA | g.22490C>T | GACACCACT | Exon 6 | N168N | 126 | 42.9 | 88 | 37.5 | 90 | 44.4 | 304 | 47.7 | ||||
29 | GAACTCAAT | g.22509A>G | CGCGGCTAA | Exon 6 | T175A | 126 | 3.2 | 88 | 0.0 | 90 | 0.0 | 304 | 1.3 | ||||
64 | CTCTGCAGC | g.23831C>T | GTTTGGGCA | Exon 7 | A232A | 128 | 0.0 | 94 | 0.0 | 90 | 1.1 | 312 | 0.3 | ||||
65 | AAGGGTTGA | g.25313C>G | CAGAGTGCC | Intron 7 | 124 | 0.8 | 96 | 0.0 | 90 | 0.0 | 310 | 0.3 | |||||
30 | TGTCCAGAT | g.25376A>T | CTCTCGGCA | Exon 8 | I237l | 126 | 15.1 | 96 | 27.1 | 90 | 27.8 | 312 | 22.4 | ||||
66 | GTTAATATA | g.28354T>C | GCATCATAT | Exon 9 | Y309Y | 128 | 0.8 | 96 | 0.0 | 92 | 0.0 | 316 | 0.3 | ||||
67 | GCATATGTG | g.30584A>G | TCTTTGATA | Exon 10 | I367V | 118 | 0.8 | 92 | 0.0 | 92 | 0.0 | 302 | 0.3 | ||||
68 | TAATATTTA | g.31823T>G | AGGAATTCC | Intron 11 | 128 | 0.0 | 96 | 0.0 | 92 | 1.1 | 316 | 0.3 | |||||
31 | ACTTTTTTT | g.31941delT | CAAATTTCA | Intron 11 | 128 | 7.0 | 96 | 3.1 | 94 | 1.1 | 318 | 4.1 | |||||
69 | ACCCTGATG | g.32140A>G | GGGCACAGT | Exon 12 | E450G | 128 | 0.0 | 96 | 1.0 | 94 | 0.0 | 318 | 0.3 | ||||
70 | ACAAATTTG | g.32232C>T | GTGTGAATC | Intron 12 | 128 | 0.0 | 96 | 1.0 | 94 | 0.0 | 318 | 0.3 | |||||
32 | GGCAATGCC | g.32277G>T | ATGGATAAT | Intron 12 | 124 | 6.5 | 96 | 3.1 | 94 | 3.2 | 314 | 4.5 | |||||
33 | CAGCTATTA | g.35024A>G | ATGGTTAAA | Intron 12 | 124 | 95.2 | 94 | 70.2 | 94 | 72.3 | 312 | 80.8 | |||||
71 | ACAGGTAAA | g.35273G>A | CCTCTGATA | Intron 13 | 126 | 0.0 | 96 | 0.0 | 94 | 1.1 | 316 | 0.3 | |||||
72 | AGTGTGCCA | g.43862A>G | TACTGTAAC | Intron 14 | 122 | 0.8 | 88 | 0.0 | 72 | 0.0 | 282 | 0.4 | |||||
34 | TGTGCCAAT | g.43864A>G | CTGTAACCC | Intron 14 | 124 | 0.0 | 88 | 1.1 | 72 | 2.8 | 284 | 1.1 | |||||
73 | TAGCACACC | g.43938G>A | ACTGTCTAC | Exon 15 | R590Q | 124 | 0.8 | 88 | 0.0 | 74 | 0.0 | 286 | 0.3 | ||||
35 | GCTGCCACT | g.48606A>G | GAATGGCCC | Exon 16 | R652G | 124 | 7.3 | 86 | 2.3 | 74 | 1.4 | 284 | 4.2 | ||||
36 | GCTACAATT | g.48771A>G | TTGAAATTC | Intron 16 | 114 | 5.3 | 86 | 2.3 | 70 | 1.4 | 270 | 3.3 | |||||
37 | TTGCAAACA | g.51576C>T | CACATAACA | Intron 17 | 122 | 95.1 | 70 | 74.3 | 80 | 71.3 | 272 | 82.7 | |||||
38 | TTACATAAC | g.56969A>G | TGGTTTTAG | Intron 20 | 126 | 6.3 | 60 | 3.3 | 66 | 1.5 | 252 | 4.4 | |||||
74 | ATATTTTAC | g.58304T>C | GTATTAATG | Intron 21 | 124 | 0.0 | 96 | 0.0 | 92 | 1.1 | 212 | 0.3 | |||||
39 | CTGTATTAA | g.58312T>C | GTCTAGAAC | Intron 21 | 122 | 4.1 | 96 | 1.0 | 92 | 1.1 | 310 | 2.3 | |||||
75 | AAAGGAGGC | g.63395delT | GAAGAGATG | Intron 22 | 124 | 0.8 | 92 | 0.0 | 94 | 0.0 | 310 | 0.3 | |||||
76 | AATATTAAG | g.63598A>T | TTATTCTAT | Intron 23 | 124 | 0.0 | 92 | 1.1 | 94 | 0.0 | 310 | 0.3 | |||||
40 | ATGGTCAAG | g.68988A>G | AGCAAAGAA | Exon 26 | E1099G | 112 | 1.8 | 92 | 0.0 | 84 | 0.0 | 288 | 0.7 | ||||
41 | TATTTATAA | g.72169T>C | TTGGTTAAC | Intron 26 | 122 | 91.8 | 90 | 65.6 | 92 | 75.0 | 304 | 78.9 | |||||
42 | GTAACATTT | g.73092T>C | CAAATTTAC | Intron 27 |
| 124 | 7.3 | 94 | 1.1 | 86 | 1.2 | 304 | 3.6 |
n, number of alleles analyzed (number of subjects times 2). %, allele frequencies for Caucasians (CA), Japanese (JA), and Koreans (KO).