Pathogenic variants |
3 | 107 | 4371 | p.T36M | c.107 C→T | Equal | T35 | T | T (G gallus) | Polar | Non-polar | 0/200 | | 1, 2, 3, 4, 5, 6, 7 |
6 | 410 | 11258 | p.P137R | c.410 C→G | Pathogenic, higher | P135 | P | P (G gallus) | Non-polar | Basic | 0/200 | Novel | 1 |
9 | 664 | 16563 | p.I222V | c.664 A→G | Equal | I220 | I | | Non-polar | Non-polar | 0/100 | | 1, 6 |
12 | 783 | 21499 | p.I261M | c.783 A→G | Equal probability | I259 | I | | Non-polar | Non-polar | 0/200 | Novel | 1 |
12 | 806 | 21522 | p.G269V | c.806 G→T | Pathogenic, higher | G267 | G | | Non-polar | Non-polar | 0/200 | Novel | 1 |
15 | 1180 | 27591 | p.A394T | c.1180 G→A | Equal | A392 | A | | Non-polar | Polar | 0/200 | Novel | 1 |
16 | 1342 | 29079 | p.G448R | c.1342 G→C | Pathogenic, higher | G446 | G | | Non-polar | Basic | 0/200 | Novel | 1 |
16 | 1409 | 29146 | p.G470D | c.1409 G→A | Equal | G468 | A | | Non-polar | Acidic | 0/200 | Novel | 1 |
20 | 1880 | 33450 | p.M627K | c.1880 T→A | Pathogenic, higher | M625 | M | | Non-polar | Basic | 0/200 | Novel | 1 |
30 | 3407 | 59263 | p.Y1136C | c.3407 A→G | Pathogenic, higher | Y1134 | F | | Polar | Non-polar | 1/200 | | 1, 2 |
32 | 4751 | 62513 | p.S1584I | c.4751 G→T | Pathogenic, higher | S1580 | | | Polar | Non-polar | 0/200 | | 1, 4 |
32 | 5236 | 62998 | p.G1746S | c.5236 G→A | Equal | G1742 | G | | Non-polar | Basic | 0/200 | Novel | 1 |
34 | 5387 | 69949 | p.L1796S | c.5387 T→C | Pathogenic, higher | L1792 | L | | Non-polar | Polar | 0/200 | Novel | 1 |
36 | 5825 | 127660 | p.D1942G | c.5825 A→G | Pathogenic, higher | D1938 | D | | Acidic | Non-polar | 0/200 | | 1, 4, 6 |
37 | 5912 | 153294 | p.G1971D | c.5912 G→A | Equal | G1967 | G | | Non-polar | Acidic | 0/200 | | 1, 4 |
54 | 8315 | 296252 | p.L2772P | c.8315 T→C | Pathogenic, higher | L2766 | L | | Non-polar | Non-polar | 0/200 | | 1, 4 |
55 | 8518 | 311769 | p.R2840C | c.8518 C→T | Pathogenic, higher | Y2834 | R | | Basic | Non-polar | 0/200 | Novel | 1 |
56 | 8588 | 314857 | p.Y2863C | c.8588 A→G | Pathogenic, higher | Y2857 | Y | | Polar | Non-polar | 0/200 | | 1, 4 |
58 | 8870 | 334332 | p.I2957T | c.8870 T→C | Pathogenic, higher | I2951 | I | | Non-polar | Polar | 0/200 | | 1, 3, 4, 5, 6, 7 |
59 | 9107 | 339104 | p.V3036G | c.9107 T→G | Pathogenic, higher | V3030 | V | | Non-polar | Non-polar | 0/200 | | 1, 4 |
59 | 9311 | 339308 | p.F3104C | c.9311 T→G | Pathogenic, higher | F3098 | F | | Non-polar | Non-polar | 0/200 | Novel | 1 |
59 | 9719 | 339716 | p.R3240L | c.9719 G→T | Pathogenic, higher | R3233 | R | | Basic | Non-polar | 0/200 | Novel | 1 |
59 | 9725 | 339722 | p.G3242V | c.9725 G→T | Pathogenic, higher | G3235 | G | | Non-polar | Non-polar | 0/200 | Novel | 1 |
60 | 9866 | 340760 | p.S3289I | c.9866 G→T | Pathogenic, higher | S3282 | S | | Polar | Non-polar | 0/200 | | 1, 2 |
61 | 10036 | 343108 | p.C3346R | c.10036 T→C | Equal | C3339 | C | | Non-polar | Basic | 0/200 | | 1, 6 |
65 | 10444 | 427931 | p.R3482C | c.10444 C→T | Pathogenic, higher | R3475 | R | | Basic | Non-polar | 0/100 | | 1, 3 |
65 | 10805 | 428292 | p.P3602L | c.10805 C→T | Pathogenic, higher | P3595 | | | Non-polar | Non-polar | 0/200 | Novel | 1 |
69 | 11611 | 454994 | p.W3871R | c.11611 T→C | Pathogenic, higher | W3864 | | W (M fascicularis) | Non-polar | Basic | 0/200 | Novel | 1 |
|
Pathogenic variants – splicing |
14 | 977 | 24912 | p.G326V | c.977 G→T | Pathogenic, higher | G324 | G | | Non-polar | Non-polar | 0/120 | | 1, 4 |
22 | 2279 | 37415 | p.R760H | c.2279 G→A | Equal | C758 | C | | Basic | Basic | 0/200 | | 1, 5 |
29 | 3364 | 54542 | p.G1122S | c.3364 G→A | Polymorphism, higher | G1120 | G | | Non-polar | Polar | 0/200 | | 1, 5 |
54 | 8425 | 296362 | p.G2809R | c.8425 G→A | Pathogenic, higher | G2803 | G | | Non-polar | Basic | 0/200 | Novel | 1 |
60 | 9998 | 340892 | p.R3333T | c.9998 G→C | Polymorphism, higher | S3326 | G | | Basic | Polar | 0/200 | Novel | 1 |
65 | 10926 | 428413 | p.M3642I | c.10926 G→A | Equal | A3635 | | | Non-polar | Non-polar | 0/200 | Novel | 1 |
|
Unclassified variants |
22 | 2269 | 37405 | p.I757L | c.2269 A→C | Polymorphism, higher | P755 | I | | Non-polar | Non-polar | 0/200 | | 1, 6 |
30 | 3367 | 59223 | p.G1123S | c.3367 G→A | Polymorphism, higher | G1121 | K | | Non-polar | Polar | 0/200 | | 1, 3, 4 |
32 | 4038 | 61801 | p.V1347M | c.4038 G→A | Pathogenic, higher | M1343 | | | Non-polar | Non-polar | 1/200 | Novel | 1 |
32 | 4139 | 61901 | p.V1380A | c.4139 T→C | Equal | V1376 | | | Non-polar | Non-polar | 1/200 | Novel | 1 |
32 | 4870 | 62632 | p.R1624W | c.4870 C→T | Pathogenic, higher | Q1620 | | | Basic | Non-polar | 0/200 | | 1, 5 |
32 | 5160 | 62922 | p.D1720E | c.5160 C→A | Polymorphism, higher | D1716 | | | Acidic | Acidic | 0/200 | Novel | 1 |
34 | 5410 | 69972 | p.R1804C | c.5410 C→T | Pathogenic, higher | H1800 | H | | Basic | Polar | 0/200 | Novel | 1 |
40 | 6436 | 175760 | p.T2146S | c.6436 A→T | Polymorphism, higher | T2141 | T | | Polar | Polar | 0/200 | Novel | 1 |
43 | 6854 | 183616 | p.G2285E | c.6854 G→A | Equal | G2280 | | | Polar | Acidic | 1/200 | Novel | 1 |
44 | 6992 | 184012 | p.I2331K | c.6992 T→A | Pathogenic, higher | M2326 | | | Non-polar | Basic | 0/200 | | 1, 7 |
53 | 8206 | 256656 | p.W2736G | c.8206 T→G | Polymorphism, higher | W2730 | W | | Non-polar | Non-polar | 0/200 | Novel | 1 |
55 | 8521 | 311772 | p.M2841V | c.8521 A→G | Equal | F2835 | F | | Non-polar | Non-polar | 0/200 | Novel | 1 |
55 | 8546 | 311797 | p.G2849A | c.8546 G→C | Polymorphism, higher | G2843 | G | | Non-polar | Non-polar | 0/200 | Novel | 1 |
56 | 8581 | 314850 | p.S2861G | c.8581 A→G | Polymorphism, higher | S2855 | S | | Polar | Non-polar | 0/200 | | 1, 4 |
57 | 8737 | 332769 | p.V2913M | c.8737 G→A | Equal | V2907 | V | | Non-polar | Non-polar | 1/200 | Novel | 1 |
57 | 8788 | 332820 | p.R2930W | c.8788 C→T | Pathogenic, higher | R2924 | R | | Basic | Non-polar | 1/200 | Novel | 1 |
59 | 9215 | 339212 | p.A3072V | c.9215 C→T | Equal | A3066 | A | | Non-polar | Non-polar | 1/200 | | 1, 2 |
59 | 9788 | 339785 | p.V3263A | c.9788 T→C | Equal | V3256 | V | | Non-polar | Non-polar | 0/200 | Novel | 1 |
65 | 10666 | 428153 | p.R3556C | c.10666 C→T | Pathogenic, higher | H3549 | | | Basic | Non-polar | 1/200 | Novel | 1 |
65 | 10319 | 427806 | p.V3440D | c.10319 T→A | Pathogenic, higher | T3433 | L | | Non-polar | Acidic | 0/200 | | 1, 4 |
70 | 11737 | 460568 | p.R3913C | c.11737 C→T | Pathogenic, higher | P3906 | | C (M
>fascicularis) | Basic | Non-polar | 0/200 | Novel | 1 |
16 | 1255 | 28992 | p.V419S | c.1255_1256del GTinsTC | Not covered by Miller | V417 | V | | Non-polar | Polar | 1/200 | Novel | 1 |
53 | 8246 | 256696 | p.W2749S | c.8246_8247delGG insCC | Polymorphism, higher | W2743 | W | | Non-polar | Non-polar | 0/200 | Novel | 1 |
|
Polymorphisms |
19 | 1736 | 31885 | p.T579M | c.1736 C→T | Equal | T577 | T | | Polar | Non-polar | 3/200 | | 1, 2 |
22 | 2278 | 37414 | p.R760C | c.2278 C→T | Pathogenic, higher | C758 | C | | Basic | Non-polar | 70/200 | | 1, 4, 6, 7 |
24 | 2489 | 41465 | p.N830S | c.2489 A→G | Polymorphism,
>higher | N829 | N | | Polar | Polar | 10/128 | | 1, 6 |
32 | 3785 | 61547 | p.A1262V | c.3785 C→T | Equal | V1259 | S | | Non-polar | Non-polar | 9/238 | | 1, 6, 7 |
32 | 5125 | 62887 | p.L1709F | c.5125 C→T | Equal | L1705 | L | | Non-polar | Non-polar | 2/200 | | 1, 4, 6 |
35 | 5608 | 77120 | p.V1870L | c.5608 G→T | Equal | V1870 | E | | Non-polar | Non-polar | 9/200 | | 1, 4, 6 |
35 | 5725 | 77237 | p.R1909W | c.5725 C→T | Pathogenic, higher | Q1905 | | | Basic | Non-polar | 5/200 | Novel | 1 |
49 | 7675 | 219692 | p.V2559L | c.7675 G→C | Equal | T2553 | I | | Non-polar | Basic | 1/200 | Novel | 1 |
51 | 7921 | 239652 | p.T2641A | c.7921 A→G | Equal | T2635 | T | | Polar | Non-polar | 2/200 | | 1, 4 |
54 | 8308 | 296245 | p.T2770A | c.8308 A→G | Equal | T2764 | T | | Polar | Non-polar | 2/200 | Novel | 1 |
54 | 8345 | 296282 | p.G2782A | c.8345 G→C | Polymorphism, higher | C2776 | C | | Non-polar | Non-polar | 2/200 | Novel | 1 |
56 | 8606 | 314875 | p.T2869K | c.8606 C→A | Polymorphism, higher | V2863 | V | | Polar | Basic | 1/200 | | 1, 4, 6 |
59 | 9415 | 339412 | p.D3139Y | c.9415 G→T | Pathogenic, higher | N3132 | N | | Acidic | Polar | 1/200 | | 1, 4, 5, 6 |
59 | 9577 | 339574 | p.V3193I | c.9577 G→A | Polymorphism, higher | V3186 | G | | Non-polar | Non-polar | 3/200 | Novel | 1 |
65 | 10515 | 428002 | p.S3505R | c.10515 C→A | Pathogenic, higher | S3498 | R | | Non-polar | Basic | 5/128 | | 1, 6, 7 |
69 | 11525 | 454908 | p.R3842L | c.11525 G→T | Pathogenic, higher | R3835 | E | R (M fascicularis) | Basic | Non-polar | 3/200 | | 1, 2 |
70 | 11696 | 460527 | p.Q3899R | c.11696 A→G | Pathogenic, higher | Q3892 | | Q (M fascicularis) | Polar | Basic | 87/200 | | 1, 4, 6, 7 |
70 | 11714 | 460545 | p.I3905N | c.11714 T→A | Pathogenic, higher | K3898 | | N (M fascicularis) | Non-polar | Polar | 11/200 | | 1, 4, 6 |
71 | 12143 | 468450 | p.Q4048R | c.12143 A→G | Pathogenic, higher | S4036 | | Q (M fascicularis) | Polar | Basic | 42/128 | | 1, 4, 7 |