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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
30619 | 1 | T/I | 1 | rs1698630177 | 0.2704 | None | gnomAD-4.0.0 | 3.54985E-06 | |
30619 | 1 | T/K | 1 | None | 0.2704 | None | gnomAD-4.0.0 | 1.77493E-06 | |
30620 | 2 | P/A | 2 | None | 0.1203 | None | gnomAD-4.0.0 | 1.74574E-06 | |
30620 | 2 | P/S | 2 | None | 0.1203 | None | gnomAD-4.0.0 | 1.74574E-06 | |
30621 | 3 | G/E | 3 | None | 0.2412 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30622 | 4 | K/E | 4 | rs756685124 | 0.3565 | None | gnomAD-4.0.0 | 4.95021E-06 | |
30622 | 4 | K/N | 4 | None | 0.3565 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30623 | 5 | V/A | 5 | rs1194784611 | 0.1091 | None | gnomAD-2.1.1 | 4.68E-06 | |
30623 | 5 | V/A | 5 | rs1194784611 | 0.1091 | None | gnomAD-3.1.2 | 6.57E-06 | |
30623 | 5 | V/A | 5 | rs1194784611 | 0.1091 | None | gnomAD-4.0.0 | 3.81962E-06 | |
30624 | 6 | V/A | 6 | rs886055231 | 0.3381 | None | gnomAD-4.0.0 | 2.81307E-06 | |
30624 | 6 | V/I | 6 | rs1474057900 | 0.3381 | None | gnomAD-3.1.2 | 6.57E-06 | |
30624 | 6 | V/I | 6 | rs1474057900 | 0.3381 | None | gnomAD-4.0.0 | 6.57151E-06 | |
30625 | 7 | G/R | 7 | None | 0.5049 | None | gnomAD-4.0.0 | 1.69565E-06 | |
30626 | 8 | P/R | 8 | None | 0.7632 | None | gnomAD-4.0.0 | 7.0044E-07 | |
30626 | 8 | P/S | 8 | rs888849578 | 0.7632 | None | gnomAD-2.1.1 | 4.56E-06 | |
30626 | 8 | P/S | 8 | rs888849578 | 0.7632 | None | gnomAD-4.0.0 | 1.69052E-06 | |
30627 | 9 | I/L | 9 | None | 0.1200 | None | gnomAD-4.0.0 | 1.39944E-06 | |
30627 | 9 | I/T | 9 | rs747482573 | 0.1200 | None | gnomAD-2.1.1 | 8.78E-06 | |
30627 | 9 | I/T | 9 | rs747482573 | 0.1200 | None | gnomAD-4.0.0 | 3.34401E-06 | |
30627 | 9 | I/V | 9 | rs535151633 | 0.1200 | None | gnomAD-2.1.1 | 2.34E-05 | |
30627 | 9 | I/V | 9 | rs535151633 | 0.1200 | None | gnomAD-3.1.2 | 6.57E-06 | |
30627 | 9 | I/V | 9 | rs535151633 | 0.1200 | None | gnomAD-4.0.0 | 1.13827E-05 | |
30628 | 10 | R/I | 11 | rs780476250 | 0.4412 | None | gnomAD-2.1.1 | 4.38E-06 | |
30628 | 10 | R/I | 11 | rs780476250 | 0.4412 | None | gnomAD-4.0.0 | 1.39727E-06 | |
30628 | 10 | R/K | 11 | rs780476250 | 0.4412 | None | gnomAD-2.1.1 | 1.32E-05 | |
30628 | 10 | R/K | 11 | rs780476250 | 0.4412 | None | gnomAD-3.1.2 | 3.94E-05 | |
30628 | 10 | R/K | 11 | rs780476250 | 0.4412 | None | gnomAD-4.0.0 | 1.3892E-05 | |
30628 | 10 | R/S | 11 | rs144922355 | 0.4412 | None | gnomAD-2.1.1 | 1.65515E-03 | |
30628 | 10 | R/S | 11 | rs144922355 | 0.4412 | None | gnomAD-3.1.2 | 4.54109E-03 | |
30628 | 10 | R/S | 11 | rs144922355 | 0.4412 | None | 1000 genomes | 3.99361E-03 | |
30628 | 10 | R/S | 11 | rs144922355 | 0.4412 | None | gnomAD-4.0.0 | 8.43089E-04 | |
30629 | 11 | F/L | 12 | rs1231209607 | 0.2574 | None | gnomAD-2.1.1 | 4.29E-06 | |
30629 | 11 | F/L | 12 | rs1231209607 | 0.2574 | None | gnomAD-4.0.0 | 6.96046E-06 | |
30629 | 11 | F/S | 12 | rs777327992 | 0.2574 | None | gnomAD-2.1.1 | 8.58E-06 | |
30629 | 11 | F/S | 12 | rs777327992 | 0.2574 | None | gnomAD-3.1.2 | 6.57E-06 | |
30629 | 11 | F/S | 12 | rs777327992 | 0.2574 | None | gnomAD-4.0.0 | 5.66355E-06 | |
30630 | 12 | T/A | 13 | None | 0.3161 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30630 | 12 | T/I | 13 | rs1305609938 | 0.3161 | None | gnomAD-2.1.1 | 4.24E-06 | |
30630 | 12 | T/I | 13 | rs1305609938 | 0.3161 | None | gnomAD-4.0.0 | 7.64067E-06 | |
30631 | 13 | N/I | 14 | None | 0.5829 | None | gnomAD-4.0.0 | 1.38887E-06 | |
30631 | 13 | N/S | 14 | rs755738504 | 0.5829 | None | gnomAD-2.1.1 | 4.23E-05 | |
30631 | 13 | N/S | 14 | rs755738504 | 0.5829 | None | gnomAD-4.0.0 | 2.08331E-05 | |
30632 | 14 | I/S | 15 | rs1698611582 | 0.1965 | None | gnomAD-3.1.2 | 6.57E-06 | |
30632 | 14 | I/S | 15 | rs1698611582 | 0.1965 | None | gnomAD-4.0.0 | 6.57315E-06 | |
30633 | 15 | T/I | 16 | rs780636599 | 0.2309 | None | gnomAD-4.0.0 | 6.91676E-07 | |
30633 | 15 | T/N | 16 | None | 0.2309 | None | gnomAD-4.0.0 | 6.91676E-07 | |
30634 | 16 | G/E | 17 | rs376628842 | 0.1286 | None | gnomAD-2.1.1 | 8.24E-06 | |
30634 | 16 | G/E | 17 | rs376628842 | 0.1286 | None | gnomAD-3.1.2 | 6.57E-06 | |
30634 | 16 | G/E | 17 | rs376628842 | 0.1286 | None | gnomAD-4.0.0 | 3.43771E-05 | |
30637 | 19 | M/K | 20 | rs1698605663 | 0.0712 | None | gnomAD-3.1.2 | 6.57E-06 | |
30637 | 19 | M/K | 20 | rs1698605663 | 0.0712 | None | gnomAD-4.0.0 | 6.57125E-06 | |
30637 | 19 | M/T | 20 | None | 0.0712 | None | gnomAD-4.0.0 | 6.87869E-07 | |
30637 | 19 | M/V | 20 | rs751394805 | 0.0712 | None | gnomAD-2.1.1 | 4.06E-06 | |
30637 | 19 | M/V | 20 | rs751394805 | 0.0712 | None | gnomAD-4.0.0 | 4.81795E-06 | |
30638 | 20 | T/S | 21 | rs1180915423 | 0.1162 | None | gnomAD-2.1.1 | 3.19E-05 | |
30638 | 20 | T/S | 21 | rs1180915423 | 0.1162 | None | gnomAD-3.1.2 | 6.57E-06 | |
30638 | 20 | T/S | 21 | rs1180915423 | 0.1162 | None | gnomAD-4.0.0 | 6.5722E-06 | |
30639 | 21 | L/P | 22 | None | 0.0779 |
Other |
Literature | None | |
30639 | 21 | L/P | 22 | None | 0.0779 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30639 | 21 | L/V | 22 | rs373049260 | 0.0779 | None | gnomAD-2.1.1 | 4.04E-06 | |
30639 | 21 | L/V | 22 | rs373049260 | 0.0779 | None | gnomAD-3.1.2 | 1.31E-05 | |
30639 | 21 | L/V | 22 | rs373049260 | 0.0779 | None | gnomAD-4.0.0 | 3.10959E-06 | |
30640 | 22 | W/S | 23 | None | 0.4393 | None | gnomAD-4.0.0 | 3.60097E-06 | |
30643 | 25 | A/D | 26 | None | 0.3049 | None | gnomAD-4.0.0 | 1.37123E-06 | |
30643 | 25 | A/V | 26 | rs750203753 | 0.3049 | None | gnomAD-2.1.1 | 3.22E-05 | |
30643 | 25 | A/V | 26 | rs750203753 | 0.3049 | None | gnomAD-3.1.2 | 1.31E-05 | |
30643 | 25 | A/V | 26 | rs750203753 | 0.3049 | None | gnomAD-4.0.0 | 2.1728E-05 | |
30645 | 27 | L/F | 28 | rs1237954818 | 1.1095 | None | gnomAD-2.1.1 | 3.18E-05 | |
30645 | 27 | L/F | 28 | rs1237954818 | 1.1095 | None | gnomAD-3.1.2 | 1.31E-05 | |
30645 | 27 | L/F | 28 | rs1237954818 | 1.1095 | None | gnomAD-4.0.0 | 1.86164E-06 | |
30645 | 27 | L/I | 28 | None | 1.1095 | None | gnomAD-4.0.0 | 3.42626E-06 | |
30645 | 27 | L/P | 28 | rs886038985 | 1.1095 | None | gnomAD-2.1.1 | 8.05E-06 | |
30645 | 27 | L/P | 28 | rs886038985 | 1.1095 | None | gnomAD-4.0.0 | 4.7899E-06 | |
30646 | 28 | N/H | 29 | rs786205328 | 0.5336 | None | gnomAD-4.0.0 | 1.37025E-06 | |
30646 | 28 | N/I | 29 | None | 0.5336 | None | gnomAD-4.0.0 | 1.37013E-06 | |
30646 | 28 | N/S | 29 | rs72648245 | 0.5336 | None | gnomAD-2.1.1 | 7.21857E-04 | |
30646 | 28 | N/S | 29 | rs72648245 | 0.5336 | None | gnomAD-3.1.2 | 1.84E-03 | |
30646 | 28 | N/S | 29 | rs72648245 | 0.5336 | None | 1000 genomes | 1.19808E-03 | |
30646 | 28 | N/S | 29 | rs72648245 | 0.5336 | None | gnomAD-4.0.0 | 4.11908E-04 | |
30648 | 30 | G/D | 31 | None | 0.1106 | None | gnomAD-4.0.0 | 6.84795E-07 | |
30648 | 30 | G/S | 31 | rs776885297 | 0.1106 | None | gnomAD-2.1.1 | 4.43E-05 | |
30648 | 30 | G/S | 31 | rs776885297 | 0.1106 | None | gnomAD-3.1.2 | 6.57E-06 | |
30648 | 30 | G/S | 31 | rs776885297 | 0.1106 | None | gnomAD-4.0.0 | 1.67486E-05 | |
30649 | 31 | C/G | 32 | rs764207273 | 0.4686 | None | gnomAD-3.1.2 | 6.57E-06 | |
30649 | 31 | C/G | 32 | rs764207273 | 0.4686 | None | gnomAD-4.0.0 | 6.57108E-06 | |
30649 | 31 | C/R | 32 | rs764207273 | 0.4686 | None | gnomAD-2.1.1 | 8.04E-06 | |
30649 | 31 | C/R | 32 | rs764207273 | 0.4686 | None | gnomAD-4.0.0 | 1.36923E-06 | |
30649 | 31 | C/Y | 32 | rs1349466376 | 0.4686 | None | gnomAD-3.1.2 | 6.57E-06 | |
30649 | 31 | C/Y | 32 | rs1349466376 | 0.4686 | None | gnomAD-4.0.0 | 2.02988E-06 | |
30651 | 33 | P/L | 34 | None | 0.6839 | None | gnomAD-4.0.0 | 1.20033E-06 | |
30651 | 33 | P/S | 34 | rs927540266 | 0.6839 | None | gnomAD-4.0.0 | 6.16099E-06 | |
30653 | 35 | T/I | 36 | None | 0.3492 | None | gnomAD-4.0.0 | 1.5918E-06 | |
30654 | 36 | H/D | 37 | rs761280624 | 0.1835 | None | gnomAD-2.1.1 | 3.19E-05 | |
30654 | 36 | H/D | 37 | rs761280624 | 0.1835 | None | gnomAD-3.1.2 | 6.57E-06 | |
30654 | 36 | H/D | 37 | rs761280624 | 0.1835 | None | gnomAD-4.0.0 | 1.23952E-06 | |
30654 | 36 | H/N | 37 | rs761280624 | 0.1835 | None | gnomAD-2.1.1 | 1.21E-05 | |
30654 | 36 | H/N | 37 | rs761280624 | 0.1835 | None | gnomAD-3.1.2 | 1.31E-05 | |
30654 | 36 | H/N | 37 | rs761280624 | 0.1835 | None | gnomAD-4.0.0 | 4.9577E-06 | |
30654 | 36 | H/Y | 37 | None | 0.1835 | None | gnomAD-4.0.0 | 6.84273E-07 | |
30656 | 38 | I/N | 39 | rs775922403 | 0.2184 | None | gnomAD-2.1.1 | 4.02E-06 | |
30656 | 38 | I/N | 39 | rs775922403 | 0.2184 | None | gnomAD-4.0.0 | 2.05272E-06 | |
30656 | 38 | I/S | 39 | None | 0.2184 | None | gnomAD-4.0.0 | 1.16321E-05 | |
30656 | 38 | I/V | 39 | rs886043632 | 0.2184 | None | gnomAD-4.0.0 | 1.59144E-06 | |
30657 | 39 | I/M | 40 | rs888042945 | 0.0640 | None | gnomAD-2.1.1 | 4.02E-06 | |
30657 | 39 | I/M | 40 | rs888042945 | 0.0640 | None | gnomAD-4.0.0 | 2.73696E-06 | |
30657 | 39 | I/T | 40 | rs942083769 | 0.0640 | None | gnomAD-2.1.1 | 4.02E-06 | |
30657 | 39 | I/T | 40 | rs942083769 | 0.0640 | None | gnomAD-3.1.2 | 1.31E-05 | |
30657 | 39 | I/T | 40 | rs942083769 | 0.0640 | None | gnomAD-4.0.0 | 4.33805E-06 | |
30657 | 39 | I/V | 40 | rs940922600 | 0.0640 | None | gnomAD-2.1.1 | 4.02E-06 | |
30657 | 39 | I/V | 40 | rs940922600 | 0.0640 | None | gnomAD-3.1.2 | 6.57E-06 | |
30657 | 39 | I/V | 40 | rs940922600 | 0.0640 | None | gnomAD-4.0.0 | 2.56235E-06 | |
30658 | 40 | E/D | 41 | rs1240970665 | 0.1473 | None | gnomAD-2.1.1 | 4.02E-06 | |
30658 | 40 | E/D | 41 | rs1240970665 | 0.1473 | None | gnomAD-4.0.0 | 1.59142E-06 | |
30660 | 42 | R/Q | 43 | rs765986284 | 0.2041 | None | gnomAD-2.1.1 | 2.41E-05 | |
30660 | 42 | R/Q | 43 | rs765986284 | 0.2041 | None | gnomAD-4.0.0 | 1.16322E-05 | |
30660 | 42 | R/W | 43 | rs377464325 | 0.2041 | None | gnomAD-2.1.1 | 1.78E-05 | |
30660 | 42 | R/W | 43 | rs377464325 | 0.2041 | None | gnomAD-3.1.2 | 2.63E-05 | |
30660 | 42 | R/W | 43 | rs377464325 | 0.2041 | None | gnomAD-4.0.0 | 1.17752E-05 | |
30662 | 44 | T/N | 50 | rs2154148455 | 0.3255 | None | gnomAD-4.0.0 | 3.18293E-06 | |
30662 | 44 | T/P | 50 | None | 0.3255 | None | gnomAD-4.0.0 | 2.40064E-06 | |
30662 | 44 | T/S | 50 | None | 0.3255 | None | gnomAD-4.0.0 | 1.59146E-06 | |
30663 | 45 | S/R | 54 | rs1418513895 | 0.6358 | None | gnomAD-2.1.1 | 4.02E-06 | |
30664 | 46 | R/I | 60 | None | 0.4996 | None | gnomAD-4.0.0 | 6.84242E-07 | |
30664 | 46 | R/S | 60 | None | 0.4996 | None | gnomAD-4.0.0 | 1.59141E-06 | |
30665 | 47 | L/P | 63 | rs1412840625 | 1.1365 | None | gnomAD-3.1.2 | 6.57E-06 | |
30665 | 47 | L/P | 63 | rs1412840625 | 1.1365 | None | gnomAD-4.0.0 | 6.57177E-06 | |
30666 | 48 | A/T | 64 | None | 0.5543 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30666 | 48 | A/V | 64 | None | 0.5543 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30668 | 50 | A/T | 66 | None | 0.3331 | None | gnomAD-4.0.0 | 1.59143E-06 | |
30669 | 51 | L/I | 67 | rs1469812071 | 0.4946 | None | gnomAD-3.1.2 | 6.57E-06 | |
30669 | 51 | L/I | 67 | rs1469812071 | 0.4946 | None | gnomAD-4.0.0 | 6.57307E-06 | |
30670 | 52 | I/M | 68 | None | 0.1990 | None | gnomAD-4.0.0 | 1.08029E-05 | |
30670 | 52 | I/S | 68 | None | 0.1990 | None | gnomAD-4.0.0 | 6.84238E-07 | |
30670 | 52 | I/T | 68 | rs369342933 | 0.1990 | None | gnomAD-2.1.1 | 2.46184E-04 | |
30670 | 52 | I/T | 68 | rs369342933 | 0.1990 | None | gnomAD-3.1.2 | 1.11741E-04 | |
30670 | 52 | I/T | 68 | rs369342933 | 0.1990 | None | 1000 genomes | 3.99361E-04 | |
30670 | 52 | I/T | 68 | rs369342933 | 0.1990 | None | gnomAD-4.0.0 | 1.25175E-04 | |
30671 | 53 | E/D | 69 | None | 0.1944 | None | gnomAD-4.0.0 | 6.84238E-07 | |
30671 | 53 | E/K | 69 | None | 0.1944 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30672 | 54 | D/G | 70 | None | 0.5126 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30672 | 54 | D/N | 70 | rs1025405753 | 0.5126 | None | gnomAD-3.1.2 | 6.57E-06 | |
30672 | 54 | D/N | 70 | rs1025405753 | 0.5126 | None | gnomAD-4.0.0 | 3.84379E-06 | |
30673 | 55 | K/E | 75 | None | 0.6073 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30673 | 55 | K/N | 75 | rs779897504 | 0.6073 | None | gnomAD-3.1.2 | 1.97E-05 | |
30673 | 55 | K/N | 75 | rs779897504 | 0.6073 | None | gnomAD-4.0.0 | 9.91552E-06 | |
30674 | 56 | C/R | 77 | rs758335817 | 0.0981 | None | gnomAD-2.1.1 | 7.14E-06 | |
30674 | 56 | C/R | 77 | rs758335817 | 0.0981 | None | gnomAD-3.1.2 | 6.57E-06 | |
30674 | 56 | C/R | 77 | rs758335817 | 0.0981 | None | gnomAD-4.0.0 | 3.84365E-06 | |
30674 | 56 | C/W | 77 | rs750208197 | 0.0981 | None | gnomAD-2.1.1 | 4.02E-06 | |
30674 | 56 | C/W | 77 | rs750208197 | 0.0981 | None | gnomAD-4.0.0 | 1.59137E-06 | |
30674 | 56 | C/Y | 77 | rs1193081606 | 0.0981 | None | gnomAD-2.1.1 | 4.02E-06 | |
30674 | 56 | C/Y | 77 | rs1193081606 | 0.0981 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30675 | 57 | E/A | 83 | rs765085883 | 0.8721 | None | gnomAD-2.1.1 | 4.02E-06 | |
30675 | 57 | E/A | 83 | rs765085883 | 0.8721 | None | gnomAD-3.1.2 | 6.57E-06 | |
30675 | 57 | E/A | 83 | rs765085883 | 0.8721 | None | gnomAD-4.0.0 | 3.09843E-06 | |
30675 | 57 | E/K | 83 | None | 0.8721 | None | gnomAD-4.0.0 | 1.59138E-06 | |
30676 | 58 | A/G | 88 | rs1237501659 | 0.3480 | None | gnomAD-3.1.2 | 1.97E-05 | |
30676 | 58 | A/G | 88 | rs1237501659 | 0.3480 | None | gnomAD-4.0.0 | 6.40595E-06 | |
30676 | 58 | A/T | 88 | None | 0.3480 | None | gnomAD-4.0.0 | 2.40064E-06 | |
30678 | 60 | S/N | 90 | None | 0.1895 | None | gnomAD-4.0.0 | 1.59134E-06 | |
30680 | 62 | T/I | 92 | None | 0.3152 | None | gnomAD-4.0.0 | 1.59131E-06 | |
30680 | 62 | T/N | 92 | rs2154148406 | 0.3152 | None | gnomAD-4.0.0 | 3.18262E-06 | |
30680 | 62 | T/P | 92 | rs1206813558 | 0.3152 | None | gnomAD-2.1.1 | 4.02E-06 | |
30680 | 62 | T/P | 92 | rs1206813558 | 0.3152 | None | gnomAD-4.0.0 | 1.59132E-06 | |
30681 | 63 | A/D | 93 | rs201400267 | 0.0959 | None | gnomAD-2.1.1 | 1.78447E-04 | |
30681 | 63 | A/D | 93 | rs201400267 | 0.0959 | None | gnomAD-3.1.2 | 2.43152E-04 | |
30681 | 63 | A/D | 93 | rs201400267 | 0.0959 | None | gnomAD-4.0.0 | 4.21395E-04 | |
30686 | 68 | N/I | 99 | None | 0.6290 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30687 | 69 | G/D | 100 | rs767929728 | 0.3403 | None | gnomAD-2.1.1 | 1.43E-05 | |
30687 | 69 | G/D | 100 | rs767929728 | 0.3403 | None | gnomAD-3.1.2 | 1.31E-05 | |
30687 | 69 | G/D | 100 | rs767929728 | 0.3403 | None | gnomAD-4.0.0 | 7.68679E-06 | |
30687 | 69 | G/S | 100 | rs375190050 | 0.3403 | None | gnomAD-2.1.1 | 1.79E-05 | |
30687 | 69 | G/S | 100 | rs375190050 | 0.3403 | None | gnomAD-3.1.2 | 2.63E-05 | |
30687 | 69 | G/S | 100 | rs375190050 | 0.3403 | None | gnomAD-4.0.0 | 2.97465E-05 | |
30688 | 70 | N/K | 102 | None | 0.3158 | None | gnomAD-4.0.0 | 1.5913E-06 | |
30688 | 70 | N/S | 102 | rs371488671 | 0.3158 | None | gnomAD-2.1.1 | 4.02E-06 | |
30688 | 70 | N/S | 102 | rs371488671 | 0.3158 | None | gnomAD-3.1.2 | 1.97E-05 | |
30688 | 70 | N/S | 102 | rs371488671 | 0.3158 | None | gnomAD-4.0.0 | 1.97099E-05 | |
30689 | 71 | E/Q | 103 | None | 0.2716 | None | gnomAD-4.0.0 | 1.36843E-06 | |
30690 | 72 | Y/H | 104 | None | 0.1043 | None | gnomAD-4.0.0 | 1.59131E-06 | |
30691 | 73 | Q/E | 105 | rs573510674 | 0.1782 | None | gnomAD-2.1.1 | 1.21E-05 | |
30691 | 73 | Q/E | 105 | rs573510674 | 0.1782 | None | gnomAD-3.1.2 | 1.31E-05 | |
30691 | 73 | Q/E | 105 | rs573510674 | 0.1782 | None | 1000 genomes | 1.99681E-04 | |
30691 | 73 | Q/E | 105 | rs573510674 | 0.1782 | None | gnomAD-4.0.0 | 3.71798E-06 | |
30691 | 73 | Q/R | 105 | rs369434118 | 0.1782 | None | gnomAD-2.1.1 | 4.02E-06 | |
30691 | 73 | Q/R | 105 | rs369434118 | 0.1782 | None | gnomAD-3.1.2 | 6.57E-06 | |
30691 | 73 | Q/R | 105 | rs369434118 | 0.1782 | None | gnomAD-4.0.0 | 6.56987E-06 | |
30692 | 74 | F/L | 106 | None | 0.0958 | None | gnomAD-4.0.0 | 1.59136E-06 | |
30693 | 75 | R/C | 107 | rs375375389 | 0.1627 | None | gnomAD-2.1.1 | 8.05E-06 | |
30693 | 75 | R/C | 107 | rs375375389 | 0.1627 | None | gnomAD-4.0.0 | 2.0527E-06 | |
30693 | 75 | R/H | 107 | rs776331056 | 0.1627 | None | gnomAD-2.1.1 | 8.05E-06 | |
30693 | 75 | R/H | 107 | rs776331056 | 0.1627 | None | gnomAD-3.1.2 | 6.57E-06 | |
30693 | 75 | R/H | 107 | rs776331056 | 0.1627 | None | gnomAD-4.0.0 | 1.23939E-05 | |
30694 | 76 | V/I | 108 | rs1301174075 | 0.0951 | None | gnomAD-2.1.1 | 3.18E-05 | |
30695 | 77 | S/P | 109 | rs768267695 | 0.1378 | None | gnomAD-2.1.1 | 4.03E-06 | |
30695 | 77 | S/P | 109 | rs768267695 | 0.1378 | None | gnomAD-4.0.0 | 1.59134E-06 | |
30696 | 78 | A/V | 110 | None | 0.0978 | None | gnomAD-4.0.0 | 2.05268E-06 | |
30699 | 81 | K/E | 113 | rs1248700593 | 0.4071 | None | gnomAD-3.1.2 | 6.57E-06 | |
30699 | 81 | K/E | 113 | rs1248700593 | 0.4071 | None | gnomAD-4.0.0 | 6.19682E-06 | |
30700 | 82 | F/S | 114 | rs746552047 | 0.3462 | None | gnomAD-2.1.1 | 4.04E-06 | |
30700 | 82 | F/S | 114 | rs746552047 | 0.3462 | None | gnomAD-4.0.0 | 6.36551E-06 | |
30701 | 83 | G/A | 115 | rs2154148355 | 0.2176 | None | gnomAD-4.0.0 | 1.59146E-06 | |
30703 | 85 | G/R | 118 | rs1418904114 | 0.1532 | None | gnomAD-2.1.1 | 4.04E-06 | |
30703 | 85 | G/R | 118 | rs1418904114 | 0.1532 | None | gnomAD-4.0.0 | 1.59157E-06 | |
30704 | 86 | R/G | 119 | rs1170214077 | 0.7885 | None | gnomAD-2.1.1 | 4.04E-06 | |
30704 | 86 | R/G | 119 | rs1170214077 | 0.7885 | None | gnomAD-4.0.0 | 6.84263E-07 | |
30704 | 86 | R/W | 119 | None | 0.7885 | None | gnomAD-4.0.0 | 2.73705E-06 | |
30706 | 88 | L/R | 121 | rs779567470 | 0.1905 | None | gnomAD-2.1.1 | 4.05E-06 | |
30707 | 89 | D/A | 122 | rs778868795 | 0.4290 | None | gnomAD-2.1.1 | 8.09E-06 | |
30707 | 89 | D/A | 122 | rs778868795 | 0.4290 | None | gnomAD-3.1.2 | 1.97E-05 | |
30707 | 89 | D/A | 122 | rs778868795 | 0.4290 | None | gnomAD-4.0.0 | 2.23126E-05 | |
30707 | 89 | D/G | 122 | rs778868795 | 0.4290 | None | gnomAD-2.1.1 | 4.05E-06 | |
30707 | 89 | D/G | 122 | rs778868795 | 0.4290 | None | gnomAD-4.0.0 | 6.84361E-07 | |
30707 | 89 | D/N | 122 | rs758300381 | 0.4290 | None | gnomAD-2.1.1 | 1.08E-05 | |
30707 | 89 | D/N | 122 | rs758300381 | 0.4290 | None | gnomAD-3.1.2 | 6.57E-06 | |
30707 | 89 | D/N | 122 | rs758300381 | 0.4290 | None | gnomAD-4.0.0 | 3.84449E-06 | |
30709 | 91 | D/A | 125 | rs757178111 | 0.8634 | None | gnomAD-2.1.1 | 4.05E-06 | |
30709 | 91 | D/A | 125 | rs757178111 | 0.8634 | None | gnomAD-4.0.0 | 1.59256E-06 | |
30709 | 91 | D/E | 125 | None | 0.8634 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30710 | 92 | P/T | 126 | rs2154148331 | 0.4162 | None | gnomAD-4.0.0 | 3.18571E-06 | |
30711 | 93 | V/A | 127 | None | 0.1353 | None | gnomAD-4.0.0 | 6.00161E-06 | |
30711 | 93 | V/L | 127 | rs747122 | 0.1353 | None | gnomAD-2.1.1 | 8.1E-06 | |
30711 | 93 | V/L | 127 | rs747122 | 0.1353 | None | gnomAD-4.0.0 | 4.79238E-06 | |
30711 | 93 | V/M | 127 | rs747122 | 0.1353 | None | gnomAD-2.1.1 | 9.35053E-02 | |
30711 | 93 | V/M | 127 | rs747122 | 0.1353 | None | gnomAD-3.1.2 | 1.14218E-01 | |
30711 | 93 | V/M | 127 | rs747122 | 0.1353 | None | 1000 genomes | 1.5016E-01 | |
30711 | 93 | V/M | 127 | rs747122 | 0.1353 | None | gnomAD-4.0.0 | 5.89209E-02 | |
30713 | 95 | A/P | 130 | rs367807708 | 0.0710 | None | gnomAD-2.1.1 | 1.08E-05 | |
30713 | 95 | A/P | 130 | rs367807708 | 0.0710 | None | gnomAD-3.1.2 | 3.94E-05 | |
30713 | 95 | A/P | 130 | rs367807708 | 0.0710 | None | gnomAD-4.0.0 | 4.9619E-06 | |
30713 | 95 | A/S | 130 | None | 0.0710 | None | gnomAD-4.0.0 | 6.84898E-07 | |
30713 | 95 | A/T | 130 | None | 0.0710 | None | gnomAD-4.0.0 | 1.3698E-06 | |
30713 | 95 | A/V | 130 | None | 0.0710 | None | gnomAD-4.0.0 | 8.40225E-06 | |
30715 | 97 | I/M | 132 | rs767562959 | 0.8599 | None | gnomAD-2.1.1 | 1.8E-05 | |
30715 | 97 | I/M | 132 | rs767562959 | 0.8599 | None | gnomAD-3.1.2 | 1.31E-05 | |
30715 | 97 | I/M | 132 | rs767562959 | 0.8599 | None | gnomAD-4.0.0 | 4.34188E-06 | |
30715 | 97 | I/T | 132 | None | 0.8599 | None | gnomAD-4.0.0 | 1.59504E-06 |