10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | T | F | T | Q | P | L | Q | S | V | V | V | L | E | G | S | T | A | T | F | E | A | H | I | S | G | F | P | V | P | E | V | S | W | F | R | D | G | Q | V | I | S | T | S | T | L | P | G | V | Q | I | S | F | S | D | G | R | A | K | L | T | I | P | A | V | T | K | A | N | S | G | R | Y | S | L | K | A | T | N | G | S | G | Q | A | T | S | T | A | E | L | L | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
6 | 1 | P/L | 1 | rs201490999 | 0.1951 | None | gnomAD-2.1.1 | 1.2E-05 | |
6 | 1 | P/L | 1 | rs201490999 | 0.1951 | None | gnomAD-3.1.2 | 1.31E-05 | |
6 | 1 | P/L | 1 | rs201490999 | 0.1951 | None | gnomAD-4.0.0 | 3.53224E-05 | |
7 | 2 | T/A | 2 | rs752073551 | 0.5633 | None | gnomAD-2.1.1 | 7.97E-06 | |
7 | 2 | T/A | 2 | rs752073551 | 0.5633 | None | gnomAD-4.0.0 | 1.59103E-06 | |
7 | 2 | T/K | 2 | rs761344572 | 0.5633 | None | gnomAD-2.1.1 | 3.98E-06 | |
7 | 2 | T/K | 2 | rs761344572 | 0.5633 | None | gnomAD-4.0.0 | 1.36833E-06 | |
7 | 2 | T/M | 2 | rs761344572 | 0.5633 | None | gnomAD-2.1.1 | 1.2E-05 | |
7 | 2 | T/M | 2 | rs761344572 | 0.5633 | None | gnomAD-4.0.0 | 1.29992E-05 | |
7 | 2 | T/R | 2 | None | 0.5633 | None | gnomAD-4.0.0 | 6.84166E-07 | |
8 | 3 | F/I | 3 | None | 0.2017 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9 | 4 | T/K | 4 | rs146123323 | 0.5073 | None | gnomAD-3.1.2 | 6.57E-06 | |
9 | 4 | T/K | 4 | rs146123323 | 0.5073 | None | gnomAD-4.0.0 | 6.57134E-06 | |
9 | 4 | T/M | 4 | rs146123323 | 0.5073 | None | gnomAD-2.1.1 | 3.19E-05 | |
9 | 4 | T/M | 4 | rs146123323 | 0.5073 | None | gnomAD-3.1.2 | 2.63E-05 | |
9 | 4 | T/M | 4 | rs146123323 | 0.5073 | None | gnomAD-4.0.0 | 1.05341E-05 | |
9 | 4 | T/S | 4 | rs1298028827 | 0.5073 | None | gnomAD-2.1.1 | 7.97E-06 | |
9 | 4 | T/S | 4 | rs1298028827 | 0.5073 | None | gnomAD-4.0.0 | 2.73662E-06 | |
10 | 5 | Q/H | 5 | None | 0.4324 | None | gnomAD-4.0.0 | 1.59093E-06 | |
10 | 5 | Q/R | 5 | None | 0.4324 | None | gnomAD-4.0.0 | 1.59096E-06 | |
11 | 6 | P/A | 7 | None | 0.4708 | None | gnomAD-4.0.0 | 1.36829E-06 | |
11 | 6 | P/L | 7 | rs768624416 | 0.4708 | None | gnomAD-2.1.1 | 7.97E-06 | |
11 | 6 | P/L | 7 | rs768624416 | 0.4708 | None | gnomAD-3.1.2 | 3.29E-05 | |
11 | 6 | P/L | 7 | rs768624416 | 0.4708 | None | gnomAD-4.0.0 | 2.72645E-05 | |
11 | 6 | P/S | 7 | rs775206165 | 0.4708 | None | gnomAD-2.1.1 | 2.83E-05 | |
11 | 6 | P/S | 7 | rs775206165 | 0.4708 | None | gnomAD-3.1.2 | 6.57E-06 | |
11 | 6 | P/S | 7 | rs775206165 | 0.4708 | None | gnomAD-4.0.0 | 9.29457E-06 | |
12 | 7 | L/S | 8 | None | 0.1516 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14 | 9 | S/I | 11 | rs771027745 | 0.4040 | None | gnomAD-2.1.1 | 3.98E-06 | |
14 | 9 | S/I | 11 | rs771027745 | 0.4040 | None | gnomAD-4.0.0 | 5.47299E-06 | |
14 | 9 | S/N | 11 | rs771027745 | 0.4040 | None | gnomAD-4.0.0 | 6.84124E-07 | |
15 | 10 | V/A | 13 | rs1471462382 | 0.1864 | None | gnomAD-2.1.1 | 1.19E-05 | |
15 | 10 | V/A | 13 | rs1471462382 | 0.1864 | None | gnomAD-4.0.0 | 4.10473E-06 | |
15 | 10 | V/I | 13 | rs201857541 | 0.1864 | None | gnomAD-2.1.1 | 1.48668E-04 | |
15 | 10 | V/I | 13 | rs201857541 | 0.1864 | None | gnomAD-3.1.2 | 1.11741E-04 | |
15 | 10 | V/I | 13 | rs201857541 | 0.1864 | None | 1000 genomes | 1.99681E-04 | |
15 | 10 | V/I | 13 | rs201857541 | 0.1864 | None | gnomAD-4.0.0 | 9.23189E-05 | |
16 | 11 | V/M | 14 | rs756212082 | 0.4572 | None | gnomAD-2.1.1 | 2.12E-05 | |
16 | 11 | V/M | 14 | rs756212082 | 0.4572 | None | gnomAD-3.1.2 | 1.97E-05 | |
16 | 11 | V/M | 14 | rs756212082 | 0.4572 | None | gnomAD-4.0.0 | 2.04472E-05 | |
17 | 12 | V/A | 16 | None | 0.1769 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17 | 12 | V/I | 16 | None | 0.1769 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18 | 13 | L/R | 18 | rs748322000 | 0.7560 | None | gnomAD-2.1.1 | 7.08E-06 | |
18 | 13 | L/R | 18 | rs748322000 | 0.7560 | None | gnomAD-3.1.2 | 2.63E-05 | |
18 | 13 | L/R | 18 | rs748322000 | 0.7560 | None | gnomAD-4.0.0 | 7.68421E-06 | |
19 | 14 | E/D | 23 | rs781416228 | 0.4307 | None | gnomAD-2.1.1 | 3.98E-06 | |
19 | 14 | E/D | 23 | rs781416228 | 0.4307 | None | gnomAD-4.0.0 | 2.05234E-06 | |
19 | 14 | E/G | 23 | rs954288080 | 0.4307 | None | gnomAD-2.1.1 | 3.98E-06 | |
19 | 14 | E/G | 23 | rs954288080 | 0.4307 | None | gnomAD-4.0.0 | 1.59072E-06 | |
20 | 15 | G/D | 24 | None | 0.3672 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21 | 16 | S/T | 25 | rs1211610408 | 0.2543 | None | gnomAD-2.1.1 | 3.98E-06 | |
21 | 16 | S/T | 25 | rs1211610408 | 0.2543 | None | gnomAD-4.0.0 | 6.84119E-07 | |
22 | 17 | T/A | 26 | rs1305775594 | 0.3756 | None | gnomAD-2.1.1 | 3.98E-06 | |
22 | 17 | T/A | 26 | rs1305775594 | 0.3756 | None | gnomAD-4.0.0 | 6.84113E-07 | |
22 | 17 | T/I | 26 | None | 0.3756 | None | gnomAD-4.0.0 | 6.84117E-07 | |
23 | 18 | A/T | 28 | rs147812158 | 0.1327 | None | gnomAD-2.1.1 | 3.98E-06 | |
23 | 18 | A/T | 28 | rs147812158 | 0.1327 | None | gnomAD-3.1.2 | 1.97E-05 | |
23 | 18 | A/T | 28 | rs147812158 | 0.1327 | None | gnomAD-4.0.0 | 9.29486E-06 | |
24 | 19 | T/I | 29 | rs536235994 | 0.3295 | None | gnomAD-2.1.1 | 7.97E-06 | |
24 | 19 | T/I | 29 | rs536235994 | 0.3295 | None | gnomAD-3.1.2 | 6.57E-06 | |
24 | 19 | T/I | 29 | rs536235994 | 0.3295 | None | gnomAD-4.0.0 | 4.33741E-06 | |
24 | 19 | T/N | 29 | None | 0.3295 | None | gnomAD-2.1.1 | 1.59E-05 | |
24 | 19 | T/N | 29 | None | 0.3295 | None | gnomAD-3.1.2 | 1.31E-05 | |
24 | 19 | T/N | 29 | None | 0.3295 | None | gnomAD-4.0.0 | 1.05337E-05 | |
24 | 19 | T/P | 29 | rs758953324 | 0.3295 | None | gnomAD-2.1.1 | 1.19E-05 | |
24 | 19 | T/P | 29 | rs758953324 | 0.3295 | None | gnomAD-4.0.0 | 6.15713E-06 | |
24 | 19 | T/S | 29 | rs536235994 | 0.3295 | None | gnomAD-2.1.1 | 7.97E-06 | |
24 | 19 | T/S | 29 | rs536235994 | 0.3295 | None | gnomAD-4.0.0 | 1.16301E-05 | |
25 | 20 | F/V | 30 | None | 0.1124 | None | gnomAD-4.0.0 | 2.40064E-06 | |
27 | 22 | A/V | 33 | rs760167840 | 0.0887 | None | gnomAD-2.1.1 | 1.2E-05 | |
27 | 22 | A/V | 33 | rs760167840 | 0.0887 | None | gnomAD-3.1.2 | 1.97E-05 | |
27 | 22 | A/V | 33 | rs760167840 | 0.0887 | None | gnomAD-4.0.0 | 8.96567E-06 | |
28 | 23 | H/D | 34 | rs752309578 | 0.2731 | None | gnomAD-2.1.1 | 3.98E-06 | |
28 | 23 | H/Y | 34 | None | 0.2731 | None | gnomAD-4.0.0 | 1.20036E-06 | |
29 | 24 | I/F | 35 | None | 0.1416 | None | gnomAD-4.0.0 | 1.36834E-06 | |
29 | 24 | I/V | 35 | rs1458992819 | 0.1416 | None | gnomAD-2.1.1 | 3.98E-06 | |
29 | 24 | I/V | 35 | rs1458992819 | 0.1416 | None | gnomAD-4.0.0 | 3.42086E-06 | |
30 | 25 | S/N | 38 | rs767153909 | 0.4136 | None | gnomAD-2.1.1 | 3.99E-06 | |
30 | 25 | S/N | 38 | rs767153909 | 0.4136 | None | gnomAD-4.0.0 | 8.21017E-06 | |
31 | 26 | G/D | 40 | None | 0.3100 | None | gnomAD-4.0.0 | 1.59167E-06 | |
35 | 30 | P/A | 44 | rs779420414 | 0.1291 | None | gnomAD-2.1.1 | 1.6E-05 | |
35 | 30 | P/A | 44 | rs779420414 | 0.1291 | None | gnomAD-4.0.0 | 6.36349E-06 | |
35 | 30 | P/L | 44 | rs755605142 | 0.1291 | None | gnomAD-2.1.1 | 7.97E-06 | |
35 | 30 | P/L | 44 | rs755605142 | 0.1291 | None | gnomAD-4.0.0 | 3.18161E-06 | |
35 | 30 | P/T | 44 | rs779420414 | 0.1291 | None | gnomAD-2.1.1 | 3.99E-06 | |
35 | 30 | P/T | 44 | rs779420414 | 0.1291 | None | gnomAD-3.1.2 | 6.57E-06 | |
35 | 30 | P/T | 44 | rs779420414 | 0.1291 | None | gnomAD-4.0.0 | 6.57082E-06 | |
36 | 31 | E/K | 45 | rs2094110497 | 0.8313 | None | gnomAD-4.0.0 | 1.59079E-06 | |
37 | 32 | V/G | 46 | None | 0.2958 | None | gnomAD-4.0.0 | 1.08131E-05 | |
38 | 33 | S/N | 47 | None | 0.2465 | None | gnomAD-4.0.0 | 1.59066E-06 | |
38 | 33 | S/R | 47 | None | 0.2465 | None | gnomAD-4.0.0 | 1.59063E-06 | |
40 | 35 | F/V | 49 | None | 0.2049 | None | gnomAD-4.0.0 | 1.59061E-06 | |
42 | 37 | D/E | 51 | None | 0.5531 | None | gnomAD-4.0.0 | 1.20032E-06 | |
42 | 37 | D/G | 51 | rs200838218 | 0.5531 | None | gnomAD-2.1.1 | 3.98E-06 | |
42 | 37 | D/G | 51 | rs200838218 | 0.5531 | None | gnomAD-4.0.0 | 2.05223E-06 | |
42 | 37 | D/N | 51 | rs759317260 | 0.5531 | None | gnomAD-2.1.1 | 3.98E-06 | |
42 | 37 | D/N | 51 | rs759317260 | 0.5531 | None | gnomAD-3.1.2 | 6.57E-06 | |
42 | 37 | D/N | 51 | rs759317260 | 0.5531 | None | gnomAD-4.0.0 | 1.85874E-06 | |
43 | 38 | G/C | 52 | None | 0.4809 | None | gnomAD-4.0.0 | 2.40064E-06 | |
44 | 39 | Q/L | 55 | rs867308852 | 0.7863 | None | gnomAD-2.1.1 | 2.79E-05 | |
44 | 39 | Q/L | 55 | rs867308852 | 0.7863 | None | gnomAD-3.1.2 | 6.57E-06 | |
44 | 39 | Q/L | 55 | rs867308852 | 0.7863 | None | gnomAD-4.0.0 | 5.57617E-06 | |
44 | 39 | Q/R | 55 | rs867308852 | 0.7863 | None | gnomAD-3.1.2 | 6.57E-06 | |
44 | 39 | Q/R | 55 | rs867308852 | 0.7863 | None | gnomAD-4.0.0 | 2.4783E-06 | |
45 | 40 | V/L | 56 | rs142028110 | 0.4113 | None | gnomAD-2.1.1 | 2.83E-05 | |
45 | 40 | V/L | 56 | rs142028110 | 0.4113 | None | gnomAD-3.1.2 | 4.6E-05 | |
45 | 40 | V/L | 56 | rs142028110 | 0.4113 | None | gnomAD-4.0.0 | 6.84074E-07 | |
45 | 40 | V/M | 56 | None | 0.4113 | None | gnomAD-4.0.0 | 6.84074E-07 | |
48 | 43 | T/A | 70 | None | 0.7013 | None | gnomAD-4.0.0 | 2.73628E-06 | |
48 | 43 | T/I | 70 | rs1295047971 | 0.7013 | None | gnomAD-2.1.1 | 3.98E-06 | |
48 | 43 | T/I | 70 | rs1295047971 | 0.7013 | None | gnomAD-4.0.0 | 1.20032E-06 | |
48 | 43 | T/P | 70 | None | 0.7013 | None | gnomAD-4.0.0 | 6.84069E-07 | |
49 | 44 | S/F | 73 | rs368887734 | 0.5794 | None | gnomAD-2.1.1 | 3.98E-06 | |
49 | 44 | S/F | 73 | rs368887734 | 0.5794 | None | gnomAD-3.1.2 | 6.57E-06 | |
49 | 44 | S/F | 73 | rs368887734 | 0.5794 | None | gnomAD-4.0.0 | 6.57004E-06 | |
49 | 44 | S/P | 73 | rs531066665 | 0.5794 | None | gnomAD-2.1.1 | 1.19E-05 | |
49 | 44 | S/P | 73 | rs531066665 | 0.5794 | None | gnomAD-3.1.2 | 6.57E-06 | |
49 | 44 | S/P | 73 | rs531066665 | 0.5794 | None | 1000 genomes | 1.99681E-04 | |
49 | 44 | S/P | 73 | rs531066665 | 0.5794 | None | gnomAD-4.0.0 | 3.40742E-05 | |
49 | 44 | S/Y | 73 | rs368887734 | 0.5794 | None | gnomAD-3.1.2 | 1.97E-05 | |
49 | 44 | S/Y | 73 | rs368887734 | 0.5794 | None | gnomAD-4.0.0 | 5.12205E-06 | |
50 | 45 | T/P | 102 | rs1217255349 | 0.3901 | None | gnomAD-2.1.1 | 3.19E-05 | |
50 | 45 | T/P | 102 | rs1217255349 | 0.3901 | None | gnomAD-3.1.2 | 1.32E-05 | |
50 | 45 | T/P | 102 | rs1217255349 | 0.3901 | None | gnomAD-4.0.0 | 1.31744E-05 | |
50 | 45 | T/S | 102 | None | 0.3901 | None | gnomAD-4.0.0 | 1.20032E-06 | |
51 | 46 | L/R | 103 | rs868419744 | 0.2269 | None | gnomAD-2.1.1 | 7.07E-06 | |
51 | 46 | L/R | 103 | rs868419744 | 0.2269 | None | gnomAD-3.1.2 | 6.57E-06 | |
51 | 46 | L/R | 103 | rs868419744 | 0.2269 | None | gnomAD-4.0.0 | 3.09775E-06 | |
51 | 46 | L/V | 103 | None | 0.2269 | None | gnomAD-4.0.0 | 6.84068E-07 | |
52 | 47 | P/R | 111 | rs761625399 | 0.7122 | None | gnomAD-2.1.1 | 7.96E-06 | |
52 | 47 | P/R | 111 | rs761625399 | 0.7122 | None | gnomAD-4.0.0 | 2.73627E-06 | |
53 | 48 | G/S | 115 | rs150902810 | 0.4919 | None | gnomAD-2.1.1 | 3.18E-05 | |
53 | 48 | G/S | 115 | rs150902810 | 0.4919 | None | gnomAD-3.1.2 | 1.31E-05 | |
53 | 48 | G/S | 115 | rs150902810 | 0.4919 | None | 1000 genomes | 1.99681E-04 | |
53 | 48 | G/S | 115 | rs150902810 | 0.4919 | None | gnomAD-4.0.0 | 7.43445E-06 | |
53 | 48 | G/V | 115 | None | 0.4919 | None | gnomAD-4.0.0 | 3.42034E-06 | |
54 | 49 | V/L | 121 | None | 0.1801 | None | gnomAD-4.0.0 | 4.10442E-06 | |
54 | 49 | V/M | 121 | rs139517732 | 0.1801 | None | gnomAD-2.1.1 | 4.25E-05 | |
54 | 49 | V/M | 121 | rs139517732 | 0.1801 | None | gnomAD-3.1.2 | 3.94E-05 | |
54 | 49 | V/M | 121 | rs139517732 | 0.1801 | None | 1000 genomes | 5.99042E-04 | |
54 | 49 | V/M | 121 | rs139517732 | 0.1801 |
DCM |
Literature | None | |
54 | 49 | V/M | 121 | rs139517732 | 0.1801 | None | gnomAD-4.0.0 | 3.71722E-05 | |
55 | 50 | Q/H | 122 | rs1561527314 | 0.5737 | None | gnomAD-4.0.0 | 2.40064E-06 | |
55 | 50 | Q/R | 122 | None | 0.5737 | None | gnomAD-4.0.0 | 1.5905E-06 | |
56 | 51 | I/L | 123 | rs2094107740 | 0.3791 | None | gnomAD-3.1.2 | 6.57E-06 | |
56 | 51 | I/L | 123 | rs2094107740 | 0.3791 | None | gnomAD-4.0.0 | 6.57497E-06 | |
57 | 52 | S/F | 125 | rs1274297049 | 0.4580 | None | gnomAD-3.1.2 | 6.57E-06 | |
57 | 52 | S/F | 125 | rs1274297049 | 0.4580 | None | gnomAD-4.0.0 | 2.56112E-06 | |
58 | 53 | F/L | 127 | None | 0.3487 | None | gnomAD-4.0.0 | 1.5905E-06 | |
59 | 54 | S/R | 130 | rs191057824 | 0.4564 | None | gnomAD-2.1.1 | 5.31E-05 | |
59 | 54 | S/R | 130 | rs191057824 | 0.4564 | None | gnomAD-3.1.2 | 5.26E-05 | |
59 | 54 | S/R | 130 | rs191057824 | 0.4564 | None | gnomAD-4.0.0 | 8.86006E-05 | |
60 | 55 | D/E | 131 | None | 1.0300 | None | gnomAD-4.0.0 | 2.05221E-06 | |
60 | 55 | D/N | 131 | rs35683768 | 1.0300 | None | gnomAD-2.1.1 | 1.59E-05 | |
60 | 55 | D/N | 131 | rs35683768 | 1.0300 | None | gnomAD-3.1.2 | 6.57E-06 | |
60 | 55 | D/N | 131 | rs35683768 | 1.0300 | None | gnomAD-4.0.0 | 1.17724E-05 | |
60 | 55 | D/V | 131 | rs754533155 | 1.0300 | None | gnomAD-2.1.1 | 3.98E-06 | |
60 | 55 | D/V | 131 | rs754533155 | 1.0300 | None | gnomAD-4.0.0 | 1.59052E-06 | |
60 | 55 | D/Y | 131 | rs35683768 | 1.0300 | None | gnomAD-2.1.1 | 1.46299E-02 | |
60 | 55 | D/Y | 131 | rs35683768 | 1.0300 | None | gnomAD-3.1.2 | 2.60441E-02 | |
60 | 55 | D/Y | 131 | rs35683768 | 1.0300 | None | 1000 genomes | 2.89537E-02 | |
60 | 55 | D/Y | 131 | rs35683768 | 1.0300 | None | gnomAD-4.0.0 | 1.03547E-02 | |
62 | 57 | R/C | 135 | rs766108359 | 0.3765 | None | gnomAD-2.1.1 | 1.19E-05 | |
62 | 57 | R/C | 135 | rs766108359 | 0.3765 | None | gnomAD-4.0.0 | 4.10443E-06 | |
62 | 57 | R/G | 135 | None | 0.3765 | None | gnomAD-4.0.0 | 6.84071E-07 | |
62 | 57 | R/H | 135 | rs758169489 | 0.3765 | None | gnomAD-2.1.1 | 7.78E-05 | |
62 | 57 | R/H | 135 | rs758169489 | 0.3765 | None | gnomAD-3.1.2 | 3.95E-05 | |
62 | 57 | R/H | 135 | rs758169489 | 0.3765 | None | gnomAD-4.0.0 | 1.85888E-05 | |
63 | 58 | A/T | 136 | rs764892312 | 0.0907 | None | gnomAD-2.1.1 | 3.54E-05 | |
63 | 58 | A/T | 136 | rs764892312 | 0.0907 | None | gnomAD-3.1.2 | 1.32E-05 | |
63 | 58 | A/T | 136 | rs764892312 | 0.0907 | None | gnomAD-4.0.0 | 2.29267E-05 | |
63 | 58 | A/V | 136 | rs761823259 | 0.0907 | None | gnomAD-2.1.1 | 3.98E-06 | |
64 | 59 | K/I | 137 | None | 0.3106 | None | gnomAD-4.0.0 | 1.59049E-06 | |
65 | 60 | L/V | 138 | None | 0.0805 | None | gnomAD-4.0.0 | 1.20034E-06 | |
66 | 61 | T/M | 139 | rs372755739 | 0.1983 | None | gnomAD-2.1.1 | 4.24E-05 | |
66 | 61 | T/M | 139 | rs372755739 | 0.1983 | None | gnomAD-3.1.2 | 3.94E-05 | |
66 | 61 | T/M | 139 | rs372755739 | 0.1983 | None | gnomAD-4.0.0 | 4.58489E-05 | |
67 | 62 | I/N | 140 | rs952685437 | 0.1356 | None | gnomAD-3.1.2 | 1.32E-05 | |
67 | 62 | I/N | 140 | rs952685437 | 0.1356 | None | gnomAD-4.0.0 | 1.31546E-05 | |
68 | 63 | P/S | 141 | rs876658046 | 0.3739 | None | gnomAD-3.1.2 | 6.57E-06 | |
68 | 63 | P/S | 141 | rs876658046 | 0.3739 | None | gnomAD-4.0.0 | 9.2937E-06 | |
69 | 64 | A/T | 143 | rs1370693255 | 0.4596 | None | gnomAD-2.1.1 | 1.77E-05 | |
69 | 64 | A/T | 143 | rs1370693255 | 0.4596 | None | gnomAD-3.1.2 | 1.97E-05 | |
69 | 64 | A/T | 143 | rs1370693255 | 0.4596 | None | gnomAD-4.0.0 | 1.11525E-05 | |
70 | 65 | V/A | 144 | None | 0.1035 | None | gnomAD-4.0.0 | 1.20036E-06 | |
70 | 65 | V/M | 144 | rs772248060 | 0.1035 | None | gnomAD-2.1.1 | 4.77E-05 | |
70 | 65 | V/M | 144 | rs772248060 | 0.1035 | None | gnomAD-3.1.2 | 4.6E-05 | |
70 | 65 | V/M | 144 | rs772248060 | 0.1035 | None | gnomAD-4.0.0 | 2.41631E-05 | |
71 | 66 | T/N | 145 | None | 0.3658 | None | gnomAD-4.0.0 | 1.20037E-06 | |
72 | 67 | K/E | 146 | None | 0.8053 | None | gnomAD-4.0.0 | 2.05223E-06 | |
72 | 67 | K/T | 146 | rs1200039660 | 0.8053 | None | gnomAD-2.1.1 | 3.98E-06 | |
73 | 68 | A/G | 148 | None | 0.4764 | None | gnomAD-4.0.0 | 6.84057E-07 | |
74 | 69 | N/K | 149 | rs2094104209 | 0.2213 | None | gnomAD-4.0.0 | 1.20032E-06 | |
74 | 69 | N/S | 149 | rs774795341 | 0.2213 | None | gnomAD-2.1.1 | 3.98E-06 | |
74 | 69 | N/S | 149 | rs774795341 | 0.2213 | None | gnomAD-4.0.0 | 8.20886E-06 | |
76 | 71 | G/A | 152 | rs138750421 | 0.2057 | None | gnomAD-2.1.1 | 9.9E-05 | |
76 | 71 | G/A | 152 | rs138750421 | 0.2057 | None | gnomAD-3.1.2 | 1.11723E-04 | |
76 | 71 | G/A | 152 | rs138750421 | 0.2057 | None | gnomAD-4.0.0 | 8.24034E-05 | |
76 | 71 | G/R | 152 | rs771137064 | 0.2057 | None | gnomAD-4.0.0 | 3.18088E-06 | |
76 | 71 | G/V | 152 | rs138750421 | 0.2057 | None | gnomAD-2.1.1 | 3.98E-06 | |
76 | 71 | G/V | 152 | rs138750421 | 0.2057 | None | gnomAD-4.0.0 | 6.84065E-07 | |
77 | 72 | R/Q | 153 | rs727503709 | 0.3942 | None | gnomAD-2.1.1 | 7.96E-06 | |
77 | 72 | R/Q | 153 | rs727503709 | 0.3942 | None | gnomAD-4.0.0 | 4.10435E-06 | |
78 | 73 | Y/H | 154 | None | 0.1119 | None | gnomAD-4.0.0 | 1.59044E-06 | |
79 | 74 | S/F | 155 | None | 0.1902 | None | gnomAD-4.0.0 | 2.73624E-06 | |
79 | 74 | S/T | 155 | rs746487470 | 0.1902 | None | gnomAD-2.1.1 | 3.98E-06 | |
79 | 74 | S/T | 155 | rs746487470 | 0.1902 | None | gnomAD-4.0.0 | 1.59045E-06 | |
79 | 74 | S/Y | 155 | None | 0.1902 | None | gnomAD-4.0.0 | 6.8406E-07 | |
82 | 77 | A/D | 158 | None | 0.0889 |
CFTD |
Literature | None | |
82 | 77 | A/T | 158 | rs1575010544 | 0.0889 | None | gnomAD-3.1.2 | 6.57E-06 | |
82 | 77 | A/T | 158 | rs1575010544 | 0.0889 | None | gnomAD-4.0.0 | 3.09756E-06 | |
84 | 79 | N/D | 161 | rs1349693054 | 0.1638 | None | gnomAD-2.1.1 | 3.98E-06 | |
84 | 79 | N/D | 161 | rs1349693054 | 0.1638 | None | gnomAD-4.0.0 | 1.59045E-06 | |
84 | 79 | N/K | 161 | rs142851233 | 0.1638 | None | gnomAD-2.1.1 | 3.98E-06 | |
84 | 79 | N/K | 161 | rs142851233 | 0.1638 | None | gnomAD-3.1.2 | 6.57E-06 | |
84 | 79 | N/K | 161 | rs142851233 | 0.1638 | None | gnomAD-4.0.0 | 6.5722E-06 | |
84 | 79 | N/S | 161 | rs912344670 | 0.1638 | None | gnomAD-3.1.2 | 6.57E-06 | |
84 | 79 | N/S | 161 | rs912344670 | 0.1638 | None | gnomAD-4.0.0 | 2.47828E-06 | |
85 | 80 | G/E | 162 | rs758092470 | 0.6906 | None | gnomAD-2.1.1 | 3.98E-06 | |
85 | 80 | G/E | 162 | rs758092470 | 0.6906 | None | gnomAD-4.0.0 | 1.59047E-06 | |
86 | 81 | S/F | 163 | None | 0.7332 | None | gnomAD-4.0.0 | 1.59046E-06 | |
86 | 81 | S/Y | 163 | rs749985986 | 0.7332 | None | gnomAD-2.1.1 | 3.98E-06 | |
86 | 81 | S/Y | 163 | rs749985986 | 0.7332 | None | gnomAD-3.1.2 | 6.57E-06 | |
86 | 81 | S/Y | 163 | rs749985986 | 0.7332 | None | gnomAD-4.0.0 | 6.57082E-06 | |
87 | 82 | G/R | 164 | rs756996890 | 0.2998 | None | gnomAD-2.1.1 | 7.95E-06 | |
87 | 82 | G/R | 164 | rs756996890 | 0.2998 | None | gnomAD-4.0.0 | 1.36819E-06 | |
87 | 82 | G/V | 164 | None | 0.2998 | None | gnomAD-4.0.0 | 1.36819E-06 | |
88 | 83 | Q/E | 165 | None | 0.4633 | None | gnomAD-4.0.0 | 1.2004E-06 | |
89 | 84 | A/G | 166 | rs200165636 | 0.1845 | None | gnomAD-2.1.1 | 1.37894E-04 | |
89 | 84 | A/G | 166 | rs200165636 | 0.1845 | None | gnomAD-3.1.2 | 1.24862E-04 | |
89 | 84 | A/G | 166 | rs200165636 | 0.1845 | None | gnomAD-4.0.0 | 2.16237E-04 | |
89 | 84 | A/T | 166 | rs1259283214 | 0.1845 | None | gnomAD-4.0.0 | 1.20039E-06 | |
89 | 84 | A/V | 166 | rs200165636 | 0.1845 | None | gnomAD-2.1.1 | 7.95E-06 | |
89 | 84 | A/V | 166 | rs200165636 | 0.1845 | None | gnomAD-3.1.2 | 1.97E-05 | |
89 | 84 | A/V | 166 | rs200165636 | 0.1845 | None | gnomAD-4.0.0 | 8.05467E-06 | |
90 | 85 | T/A | 168 | None | 0.3708 | None | gnomAD-4.0.0 | 1.59048E-06 | |
91 | 86 | S/I | 169 | rs1367815458 | 0.1182 | None | gnomAD-3.1.2 | 6.57E-06 | |
91 | 86 | S/I | 169 | rs1367815458 | 0.1182 | None | gnomAD-4.0.0 | 6.57186E-06 | |
91 | 86 | S/N | 169 | None | 0.1182 | None | gnomAD-4.0.0 | 1.20038E-06 | |
91 | 86 | S/T | 169 | None | 0.1182 | None | gnomAD-4.0.0 | 3.60113E-06 | |
92 | 87 | T/A | 171 | rs767442718 | 0.4336 | None | gnomAD-2.1.1 | 3.98E-06 | |
92 | 87 | T/A | 171 | rs767442718 | 0.4336 | None | gnomAD-3.1.2 | 6.57E-06 | |
92 | 87 | T/A | 171 | rs767442718 | 0.4336 | None | gnomAD-4.0.0 | 2.56113E-06 | |
92 | 87 | T/S | 171 | rs767442718 | 0.4336 | None | gnomAD-2.1.1 | 3.98E-06 | |
92 | 87 | T/S | 171 | rs767442718 | 0.4336 | None | gnomAD-4.0.0 | 1.5905E-06 | |
93 | 88 | A/S | 172 | None | 0.0995 | None | gnomAD-4.0.0 | 2.05225E-06 | |
93 | 88 | A/T | 172 | rs1575009860 | 0.0995 | None | gnomAD-4.0.0 | 2.05225E-06 | |
93 | 88 | A/V | 172 | rs1473207810 | 0.0995 | None | gnomAD-2.1.1 | 3.98E-06 | |
93 | 88 | A/V | 172 | rs1473207810 | 0.0995 | None | gnomAD-4.0.0 | 1.59052E-06 | |
94 | 89 | E/D | 173 | None | 0.4505 | None | gnomAD-4.0.0 | 6.84081E-07 | |
95 | 90 | L/F | 174 | rs774434865 | 0.1124 | None | gnomAD-2.1.1 | 3.98E-06 | |
95 | 90 | L/F | 174 | rs774434865 | 0.1124 | None | gnomAD-3.1.2 | 6.57E-06 | |
95 | 90 | L/F | 174 | rs774434865 | 0.1124 | None | gnomAD-4.0.0 | 2.56115E-06 | |
97 | 92 | V/L | 177 | None | 0.1897 | None | gnomAD-4.0.0 | 6.84083E-07 | |
97 | 92 | V/M | 177 | rs185921345 | 0.1897 | None | gnomAD-2.1.1 | 2.59558E-03 | |
97 | 92 | V/M | 177 | rs185921345 | 0.1897 | None | gnomAD-3.1.2 | 1.99132E-03 | |
97 | 92 | V/M | 177 | rs185921345 | 0.1897 | None | 1000 genomes | 1.19808E-03 | |
97 | 92 | V/M | 177 | rs185921345 | 0.1897 | None | gnomAD-4.0.0 | 1.17342E-03 |