10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
V | P | G | P | P | G | P | V | E | I | S | N | V | S | A | E | K | A | T | L | T | W | T | P | P | L | E | D | G | G | S | P | I | K | S | Y | I | L | E | K | R | E | T | S | R | L | L | W | T | V | V | S | E | D | I | Q | S | C | R | H | V | A | T | K | L | I | Q | G | N | E | Y | I | F | R | V | S | A | V | N | H | Y | G | K | G | E | P | V | Q | S | E | P | V | K | M | V | D |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
23040 | 1 | V/I | 1 | None | 0.4940 | None | gnomAD-4.0.0 | 1.36897E-06 | |
23040 | 1 | V/L | 1 | rs2046630648 | 0.4940 | None | gnomAD-3.1.2 | 6.59E-06 | |
23040 | 1 | V/L | 1 | rs2046630648 | 0.4940 | None | gnomAD-4.0.0 | 1.86014E-06 | |
23041 | 2 | P/R | 2 | rs1174533300 | 0.1259 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23042 | 3 | G/D | 3 | rs531136835 | 0.2507 | None | gnomAD-2.1.1 | 4.04E-06 | |
23042 | 3 | G/D | 3 | rs531136835 | 0.2507 | None | gnomAD-3.1.2 | 6.59E-06 | |
23042 | 3 | G/D | 3 | rs531136835 | 0.2507 | None | 1000 genomes | 1.99681E-04 | |
23042 | 3 | G/D | 3 | rs531136835 | 0.2507 | None | gnomAD-4.0.0 | 6.58432E-06 | |
23042 | 3 | G/S | 3 | None | 0.2507 | None | gnomAD-4.0.0 | 1.59283E-06 | |
23042 | 3 | G/V | 3 | rs531136835 | 0.2507 | None | gnomAD-3.1.2 | 6.59E-06 | |
23042 | 3 | G/V | 3 | rs531136835 | 0.2507 | None | gnomAD-4.0.0 | 3.04609E-06 | |
23043 | 4 | P/A | 4 | rs1251404237 | 0.4252 | None | gnomAD-2.1.1 | 4.04E-06 | |
23043 | 4 | P/A | 4 | rs1251404237 | 0.4252 | None | gnomAD-4.0.0 | 6.84516E-07 | |
23043 | 4 | P/L | 4 | rs773833922 | 0.4252 | None | gnomAD-2.1.1 | 8.08E-06 | |
23043 | 4 | P/L | 4 | rs773833922 | 0.4252 | None | gnomAD-4.0.0 | 4.77844E-06 | |
23043 | 4 | P/S | 4 | rs1251404237 | 0.4252 | None | gnomAD-2.1.1 | 4.04E-06 | |
23043 | 4 | P/S | 4 | rs1251404237 | 0.4252 | None | gnomAD-4.0.0 | 1.36903E-06 | |
23044 | 5 | P/S | 5 | rs55980498 | 0.1375 | None | gnomAD-2.1.1 | 3.64249E-03 | |
23044 | 5 | P/S | 5 | rs55980498 | 0.1375 | None | gnomAD-3.1.2 | 3.61627E-03 | |
23044 | 5 | P/S | 5 | rs55980498 | 0.1375 | None | 1000 genomes | 9.98403E-04 | |
23044 | 5 | P/S | 5 | rs55980498 | 0.1375 | None | gnomAD-4.0.0 | 5.1505E-03 | |
23045 | 6 | G/S | 6 | rs762347167 | 0.2278 | None | gnomAD-2.1.1 | 4.04E-06 | |
23045 | 6 | G/S | 6 | rs762347167 | 0.2278 | None | gnomAD-3.1.2 | 6.58E-06 | |
23045 | 6 | G/S | 6 | rs762347167 | 0.2278 | None | gnomAD-4.0.0 | 2.56508E-06 | |
23047 | 8 | V/A | 9 | rs368697152 | 0.1622 | None | gnomAD-2.1.1 | 5.02E-05 | |
23047 | 8 | V/A | 9 | rs368697152 | 0.1622 | None | gnomAD-3.1.2 | 2.04023E-04 | |
23047 | 8 | V/A | 9 | rs368697152 | 0.1622 | None | gnomAD-4.0.0 | 4.58808E-05 | |
23047 | 8 | V/F | 9 | None | 0.1622 | None | gnomAD-4.0.0 | 6.84505E-07 | |
23047 | 8 | V/I | 9 | rs2154173593 | 0.1622 | None | gnomAD-4.0.0 | 6.84505E-07 | |
23049 | 10 | I/T | 12 | None | 0.3034 | None | gnomAD-4.0.0 | 4.77841E-06 | |
23049 | 10 | I/V | 12 | rs72646881 | 0.3034 | None | gnomAD-2.1.1 | 1.11649E-02 | |
23049 | 10 | I/V | 12 | rs72646881 | 0.3034 | None | gnomAD-3.1.2 | 3.27723E-02 | |
23049 | 10 | I/V | 12 | rs72646881 | 0.3034 | None | 1000 genomes | 3.63419E-02 | |
23049 | 10 | I/V | 12 | rs72646881 | 0.3034 | None | gnomAD-4.0.0 | 6.56266E-03 | |
23050 | 11 | S/C | 13 | rs1236505151 | 0.3438 | None | gnomAD-2.1.1 | 2.83E-05 | |
23050 | 11 | S/C | 13 | rs1236505151 | 0.3438 | None | gnomAD-3.1.2 | 9.21E-05 | |
23050 | 11 | S/C | 13 | rs1236505151 | 0.3438 | None | gnomAD-4.0.0 | 2.69292E-05 | |
23050 | 11 | S/R | 13 | rs1318329197 | 0.3438 | None | gnomAD-2.1.1 | 4.04E-06 | |
23051 | 12 | N/H | 14 | None | 0.6803 | None | gnomAD-4.0.0 | 1.59281E-06 | |
23051 | 12 | N/T | 14 | None | 0.6803 | None | gnomAD-4.0.0 | 3.1856E-06 | |
23052 | 13 | V/A | 15 | None | 0.3983 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23055 | 16 | E/A | 18 | rs2046618372 | 0.5990 | None | gnomAD-3.1.2 | 6.58E-06 | |
23055 | 16 | E/A | 18 | rs2046618372 | 0.5990 | None | gnomAD-4.0.0 | 6.57851E-06 | |
23058 | 19 | T/A | 21 | rs752304059 | 0.1757 | None | gnomAD-2.1.1 | 4.03E-06 | |
23058 | 19 | T/A | 21 | rs752304059 | 0.1757 | None | gnomAD-3.1.2 | 6.58E-06 | |
23058 | 19 | T/A | 21 | rs752304059 | 0.1757 | None | gnomAD-4.0.0 | 2.48005E-06 | |
23058 | 19 | T/I | 21 | None | 0.1757 | None | gnomAD-4.0.0 | 3.21706E-05 | |
23058 | 19 | T/S | 21 | rs752304059 | 0.1757 | None | gnomAD-2.1.1 | 4.03E-06 | |
23058 | 19 | T/S | 21 | rs752304059 | 0.1757 | None | gnomAD-4.0.0 | 1.30193E-05 | |
23059 | 20 | L/F | 22 | rs1394979272 | 0.0972 | None | gnomAD-2.1.1 | 4.03E-06 | |
23059 | 20 | L/F | 22 | rs1394979272 | 0.0972 | None | gnomAD-3.1.2 | 6.58E-06 | |
23059 | 20 | L/F | 22 | rs1394979272 | 0.0972 | None | gnomAD-4.0.0 | 2.56464E-06 | |
23061 | 22 | W/C | 24 | None | 0.1329 | None | gnomAD-4.0.0 | 2.05337E-06 | |
23061 | 22 | W/R | 24 | None | 0.1329 | None | gnomAD-4.0.0 | 1.59258E-06 | |
23063 | 24 | P/S | 26 | None | 0.4860 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23065 | 26 | L/S | 28 | rs768535148 | 1.3009 | None | gnomAD-2.1.1 | 8.95E-05 | |
23065 | 26 | L/S | 28 | rs768535148 | 1.3009 | None | gnomAD-3.1.2 | 4.61E-05 | |
23065 | 26 | L/S | 28 | rs768535148 | 1.3009 | None | gnomAD-4.0.0 | 5.26964E-05 | |
23067 | 28 | D/N | 30 | None | 0.2979 | None | gnomAD-4.0.0 | 6.84413E-07 | |
23067 | 28 | D/Y | 30 | rs794729485 | 0.2979 | None | gnomAD-3.1.2 | 6.58E-06 | |
23067 | 28 | D/Y | 30 | rs794729485 | 0.2979 | None | gnomAD-4.0.0 | 5.5794E-06 | |
23068 | 29 | G/D | 31 | rs528841156 | 0.3655 | None | gnomAD-2.1.1 | 1.21E-05 | |
23068 | 29 | G/D | 31 | rs528841156 | 0.3655 | None | gnomAD-4.0.0 | 4.77716E-06 | |
23068 | 29 | G/S | 31 | None | 0.3655 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23068 | 29 | G/V | 31 | rs528841156 | 0.3655 | None | gnomAD-2.1.1 | 8.06E-06 | |
23068 | 29 | G/V | 31 | rs528841156 | 0.3655 | None | gnomAD-3.1.2 | 6.58E-06 | |
23068 | 29 | G/V | 31 | rs528841156 | 0.3655 | None | 1000 genomes | 1.99681E-04 | |
23068 | 29 | G/V | 31 | rs528841156 | 0.3655 | None | gnomAD-4.0.0 | 2.56411E-06 | |
23069 | 30 | G/S | 32 | rs183977969 | 0.5738 | None | gnomAD-2.1.1 | 4.84E-05 | |
23069 | 30 | G/S | 32 | rs183977969 | 0.5738 | None | gnomAD-3.1.2 | 3.29E-05 | |
23069 | 30 | G/S | 32 | rs183977969 | 0.5738 | None | 1000 genomes | 1.99681E-04 | |
23069 | 30 | G/S | 32 | rs183977969 | 0.5738 | None | gnomAD-4.0.0 | 2.16979E-05 | |
23070 | 31 | S/L | 33 | None | 0.1645 | None | gnomAD-4.0.0 | 1.59235E-06 | |
23070 | 31 | S/P | 33 | None | 0.1645 | None | gnomAD-4.0.0 | 3.18467E-06 | |
23071 | 32 | P/L | 34 | rs367664195 | 0.7010 | None | gnomAD-2.1.1 | 4.03E-06 | |
23071 | 32 | P/S | 34 | None | 0.7010 | None | gnomAD-4.0.0 | 1.36879E-06 | |
23072 | 33 | I/M | 35 | rs374117511 | 0.2489 | None | gnomAD-2.1.1 | 5.24E-05 | |
23072 | 33 | I/M | 35 | rs374117511 | 0.2489 | None | gnomAD-3.1.2 | 1.32E-05 | |
23072 | 33 | I/M | 35 | rs374117511 | 0.2489 | None | gnomAD-4.0.0 | 3.46172E-05 | |
23072 | 33 | I/N | 35 | rs1309205725 | 0.2489 | None | gnomAD-2.1.1 | 3.19E-05 | |
23072 | 33 | I/N | 35 | rs1309205725 | 0.2489 | None | gnomAD-3.1.2 | 1.32E-05 | |
23072 | 33 | I/N | 35 | rs1309205725 | 0.2489 | None | gnomAD-4.0.0 | 7.43903E-06 | |
23072 | 33 | I/V | 35 | rs2046609808 | 0.2489 | None | gnomAD-4.0.0 | 3.18451E-06 | |
23074 | 35 | S/Y | 37 | rs1485952946 | 0.1243 | None | gnomAD-2.1.1 | 4.03E-06 | |
23074 | 35 | S/Y | 37 | rs1485952946 | 0.1243 | None | gnomAD-4.0.0 | 1.36878E-06 | |
23075 | 36 | Y/S | 38 | None | 0.1167 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23076 | 37 | I/M | 39 | None | 0.1576 | None | gnomAD-4.0.0 | 1.36875E-06 | |
23076 | 37 | I/T | 39 | rs765930349 | 0.1576 | None | gnomAD-2.1.1 | 2.42E-05 | |
23076 | 37 | I/T | 39 | rs765930349 | 0.1576 | None | gnomAD-3.1.2 | 1.97E-05 | |
23076 | 37 | I/T | 39 | rs765930349 | 0.1576 | None | gnomAD-4.0.0 | 1.30178E-05 | |
23076 | 37 | I/V | 39 | rs1203126727 | 0.1576 | None | gnomAD-2.1.1 | 8.06E-06 | |
23076 | 37 | I/V | 39 | rs1203126727 | 0.1576 | None | gnomAD-4.0.0 | 8.21248E-06 | |
23077 | 38 | L/F | 40 | rs529270980 | 0.0810 | None | gnomAD-2.1.1 | 1.07E-05 | |
23077 | 38 | L/F | 40 | rs529270980 | 0.0810 | None | gnomAD-3.1.2 | 2.63E-05 | |
23077 | 38 | L/F | 40 | rs529270980 | 0.0810 | None | 1000 genomes | 1.99681E-04 | |
23077 | 38 | L/F | 40 | rs529270980 | 0.0810 | None | gnomAD-4.0.0 | 1.05378E-05 | |
23077 | 38 | L/I | 40 | None | 0.0810 | None | gnomAD-4.0.0 | 6.84378E-07 | |
23077 | 38 | L/P | 40 | rs772742230 | 0.0810 | None | gnomAD-2.1.1 | 4.03E-06 | |
23077 | 38 | L/P | 40 | rs772742230 | 0.0810 | None | gnomAD-4.0.0 | 1.59217E-06 | |
23078 | 39 | E/G | 41 | rs761442590 | 0.1093 | None | gnomAD-2.1.1 | 8.06E-06 | |
23078 | 39 | E/G | 41 | rs761442590 | 0.1093 | None | gnomAD-3.1.2 | 1.32E-05 | |
23078 | 39 | E/G | 41 | rs761442590 | 0.1093 | None | gnomAD-4.0.0 | 5.12786E-06 | |
23079 | 40 | K/E | 42 | None | 0.1415 | None | gnomAD-4.0.0 | 1.59212E-06 | |
23079 | 40 | K/N | 42 | rs1234500748 | 0.1415 | None | gnomAD-2.1.1 | 4.03E-06 | |
23079 | 40 | K/N | 42 | rs1234500748 | 0.1415 | None | gnomAD-4.0.0 | 1.5921E-06 | |
23079 | 40 | K/T | 42 | None | 0.1415 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23080 | 41 | R/K | 43 | rs949990037 | 0.1720 | None | gnomAD-2.1.1 | 4.03E-06 | |
23080 | 41 | R/K | 43 | rs949990037 | 0.1720 | None | gnomAD-4.0.0 | 1.59216E-06 | |
23082 | 43 | T/I | 50 | None | 0.3549 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23084 | 45 | R/Q | 60 | rs200191748 | 0.5148 | None | gnomAD-2.1.1 | 3.22E-05 | |
23084 | 45 | R/Q | 60 | rs200191748 | 0.5148 | None | gnomAD-3.1.2 | 6.58E-05 | |
23084 | 45 | R/Q | 60 | rs200191748 | 0.5148 | None | gnomAD-4.0.0 | 2.60362E-05 | |
23087 | 48 | W/R | 65 | rs1293167512 | 0.2020 | None | gnomAD-2.1.1 | 4.03E-06 | |
23090 | 51 | V/F | 68 | rs377487375 | 0.2479 | None | gnomAD-2.1.1 | 4.03E-06 | |
23090 | 51 | V/F | 68 | rs377487375 | 0.2479 | None | gnomAD-4.0.0 | 3.42171E-06 | |
23090 | 51 | V/I | 68 | None | 0.2479 | None | gnomAD-4.0.0 | 1.36869E-06 | |
23090 | 51 | V/L | 68 | rs377487375 | 0.2479 | None | gnomAD-3.1.2 | 6.58E-06 | |
23090 | 51 | V/L | 68 | rs377487375 | 0.2479 | None | gnomAD-4.0.0 | 6.58025E-06 | |
23091 | 52 | S/F | 69 | None | 0.2293 | None | gnomAD-4.0.0 | 1.59195E-06 | |
23093 | 54 | D/G | 75 | None | 0.8372 | None | gnomAD-4.0.0 | 4.80129E-06 | |
23093 | 54 | D/N | 75 | None | 0.8372 | None | gnomAD-4.0.0 | 3.60097E-06 | |
23093 | 54 | D/V | 75 | None | 0.8372 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23094 | 55 | I/T | 77 | rs1462335969 | 0.0877 | None | gnomAD-3.1.2 | 1.32E-05 | |
23094 | 55 | I/T | 77 | rs1462335969 | 0.0877 | None | gnomAD-4.0.0 | 4.95875E-06 | |
23095 | 56 | Q/H | 83 | None | 0.8912 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23096 | 57 | S/F | 88 | rs775422985 | 0.4402 | None | gnomAD-2.1.1 | 2.42E-05 | |
23096 | 57 | S/F | 88 | rs775422985 | 0.4402 | None | gnomAD-3.1.2 | 6.58E-06 | |
23096 | 57 | S/F | 88 | rs775422985 | 0.4402 | None | gnomAD-4.0.0 | 1.61145E-05 | |
23096 | 57 | S/P | 88 | None | 0.4402 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23097 | 58 | C/G | 89 | rs1165725715 | 0.1174 | None | gnomAD-2.1.1 | 4.03E-06 | |
23097 | 58 | C/G | 89 | rs1165725715 | 0.1174 | None | gnomAD-3.1.2 | 6.58E-06 | |
23097 | 58 | C/G | 89 | rs1165725715 | 0.1174 | None | gnomAD-4.0.0 | 3.7189E-06 | |
23097 | 58 | C/R | 89 | rs1165725715 | 0.1174 | None | gnomAD-3.1.2 | 1.97E-05 | |
23097 | 58 | C/R | 89 | rs1165725715 | 0.1174 | None | gnomAD-4.0.0 | 1.61152E-05 | |
23098 | 59 | R/K | 90 | rs771768640 | 0.5026 | None | gnomAD-2.1.1 | 1.07E-05 | |
23098 | 59 | R/K | 90 | rs771768640 | 0.5026 | None | gnomAD-3.1.2 | 1.32E-05 | |
23098 | 59 | R/K | 90 | rs771768640 | 0.5026 | None | gnomAD-4.0.0 | 3.71908E-06 | |
23100 | 61 | V/A | 92 | None | 0.3903 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23101 | 62 | A/V | 93 | None | 0.1124 | None | gnomAD-4.0.0 | 1.59188E-06 | |
23102 | 63 | T/S | 94 | rs1372466257 | 0.4525 | None | gnomAD-2.1.1 | 8.06E-06 | |
23102 | 63 | T/S | 94 | rs1372466257 | 0.4525 | None | gnomAD-4.0.0 | 1.59186E-06 | |
23103 | 64 | K/R | 96 | None | 0.8793 | None | gnomAD-4.0.0 | 1.59186E-06 | |
23104 | 65 | L/F | 97 | rs746045754 | 0.0905 | None | gnomAD-2.1.1 | 4.03E-06 | |
23104 | 65 | L/F | 97 | rs746045754 | 0.0905 | None | gnomAD-4.0.0 | 1.59189E-06 | |
23104 | 65 | L/R | 97 | None | 0.0905 | None | gnomAD-4.0.0 | 1.36864E-06 | |
23105 | 66 | I/T | 98 | rs1430095779 | 0.4391 | None | gnomAD-2.1.1 | 4.03E-06 | |
23107 | 68 | G/A | 100 | rs2046587390 | 0.2910 | None | gnomAD-4.0.0 | 4.77561E-06 | |
23108 | 69 | N/K | 102 | rs147525123 | 0.2782 | None | gnomAD-2.1.1 | 4.03E-06 | |
23108 | 69 | N/K | 102 | rs147525123 | 0.2782 | None | gnomAD-4.0.0 | 6.84321E-07 | |
23109 | 70 | E/A | 103 | rs1212757037 | 0.2801 | None | gnomAD-2.1.1 | 4.03E-06 | |
23109 | 70 | E/A | 103 | rs1212757037 | 0.2801 | None | gnomAD-4.0.0 | 1.36865E-06 | |
23109 | 70 | E/D | 103 | None | 0.2801 | None | gnomAD-4.0.0 | 1.59189E-06 | |
23109 | 70 | E/K | 103 | rs727503571 | 0.2801 | None | gnomAD-3.1.2 | 1.32E-05 | |
23109 | 70 | E/K | 103 | rs727503571 | 0.2801 | None | gnomAD-4.0.0 | 3.04523E-06 | |
23111 | 72 | I/V | 105 | rs1398776954 | 0.1696 | None | gnomAD-2.1.1 | 3.19E-05 | |
23111 | 72 | I/V | 105 | rs1398776954 | 0.1696 | None | gnomAD-4.0.0 | 5.47461E-06 | |
23112 | 73 | F/C | 106 | rs1379413245 | 0.1126 | None | gnomAD-2.1.1 | 6.37E-05 | |
23112 | 73 | F/C | 106 | rs1379413245 | 0.1126 | None | gnomAD-3.1.2 | 1.97E-05 | |
23112 | 73 | F/C | 106 | rs1379413245 | 0.1126 | None | gnomAD-4.0.0 | 1.48758E-05 | |
23113 | 74 | R/Q | 107 | rs370890454 | 0.1432 | None | gnomAD-2.1.1 | 8.59E-05 | |
23113 | 74 | R/Q | 107 | rs370890454 | 0.1432 | None | gnomAD-3.1.2 | 1.18395E-04 | |
23113 | 74 | R/Q | 107 | rs370890454 | 0.1432 | None | gnomAD-4.0.0 | 2.26862E-04 | |
23113 | 74 | R/W | 107 | rs749409444 | 0.1432 | None | gnomAD-2.1.1 | 6.05E-05 | |
23113 | 74 | R/W | 107 | rs749409444 | 0.1432 | None | gnomAD-3.1.2 | 6.58E-06 | |
23113 | 74 | R/W | 107 | rs749409444 | 0.1432 | None | gnomAD-4.0.0 | 1.30172E-05 | |
23114 | 75 | V/D | 108 | None | 0.0854 | None | gnomAD-4.0.0 | 1.36863E-06 | |
23116 | 77 | A/D | 110 | rs2154173466 | 0.0852 | None | gnomAD-4.0.0 | 1.08029E-05 | |
23117 | 78 | V/A | 111 | None | 0.1366 | None | gnomAD-4.0.0 | 1.59183E-06 | |
23117 | 78 | V/G | 111 | rs968207606 | 0.1366 | None | gnomAD-3.1.2 | 6.58E-06 | |
23117 | 78 | V/G | 111 | rs968207606 | 0.1366 | None | gnomAD-4.0.0 | 2.56316E-06 | |
23117 | 78 | V/I | 111 | None | 0.1366 | None | gnomAD-4.0.0 | 1.59185E-06 | |
23118 | 79 | N/H | 112 | None | 0.1033 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23119 | 80 | H/R | 113 | None | 0.7689 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23120 | 81 | Y/C | 114 | rs1271048199 | 0.6839 | None | gnomAD-3.1.2 | 6.57E-06 | |
23120 | 81 | Y/C | 114 | rs1271048199 | 0.6839 | None | gnomAD-4.0.0 | 3.04497E-06 | |
23121 | 82 | G/S | 115 | None | 0.2063 | None | gnomAD-4.0.0 | 3.60097E-06 | |
23124 | 85 | E/Q | 119 | None | 0.5575 | None | gnomAD-4.0.0 | 2.40064E-06 | |
23125 | 86 | P/S | 120 | None | 0.3212 | None | gnomAD-4.0.0 | 1.59197E-06 | |
23126 | 87 | V/I | 121 | rs756671149 | 0.1649 | None | gnomAD-2.1.1 | 4.03E-06 | |
23126 | 87 | V/I | 121 | rs756671149 | 0.1649 | None | gnomAD-4.0.0 | 6.84363E-07 | |
23126 | 87 | V/L | 121 | rs756671149 | 0.1649 | None | gnomAD-2.1.1 | 4.03E-06 | |
23126 | 87 | V/L | 121 | rs756671149 | 0.1649 | None | gnomAD-3.1.2 | 4.6E-05 | |
23126 | 87 | V/L | 121 | rs756671149 | 0.1649 | None | gnomAD-4.0.0 | 9.91761E-06 | |
23127 | 88 | Q/E | 122 | rs953796748 | 0.4185 | None | gnomAD-2.1.1 | 4.03E-06 | |
23127 | 88 | Q/E | 122 | rs953796748 | 0.4185 | None | gnomAD-3.1.2 | 6.58E-06 | |
23127 | 88 | Q/E | 122 | rs953796748 | 0.4185 | None | gnomAD-4.0.0 | 5.12706E-06 | |
23128 | 89 | S/Y | 123 | rs72646882 | 0.1488 | None | gnomAD-2.1.1 | 7.51476E-04 | |
23128 | 89 | S/Y | 123 | rs72646882 | 0.1488 | None | gnomAD-3.1.2 | 2.24932E-03 | |
23128 | 89 | S/Y | 123 | rs72646882 | 0.1488 | None | 1000 genomes | 1.39776E-03 | |
23128 | 89 | S/Y | 123 | rs72646882 | 0.1488 | None | gnomAD-4.0.0 | 4.15914E-04 | |
23129 | 90 | E/G | 125 | rs755308234 | 0.6829 | None | gnomAD-2.1.1 | 8.06E-06 | |
23129 | 90 | E/G | 125 | rs755308234 | 0.6829 | None | gnomAD-4.0.0 | 1.36883E-05 | |
23129 | 90 | E/K | 125 | rs1394354671 | 0.6829 | None | gnomAD-2.1.1 | 4.03E-06 | |
23129 | 90 | E/K | 125 | rs1394354671 | 0.6829 | None | gnomAD-4.0.0 | 1.59245E-06 | |
23130 | 91 | P/S | 126 | None | 0.4132 | None | gnomAD-4.0.0 | 1.59241E-06 | |
23131 | 92 | V/I | 127 | None | 0.2116 | None | gnomAD-4.0.0 | 2.74301E-06 | |
23133 | 94 | M/V | 130 | None | 0.0552 | None | gnomAD-4.0.0 | 1.59791E-06 | |
23134 | 95 | V/I | 131 | rs1373489781 | 0.3942 | None | gnomAD-4.0.0 | 1.37114E-06 | |
23134 | 95 | V/L | 131 | rs1373489781 | 0.3942 | None | gnomAD-2.1.1 | 4.05E-06 | |
23134 | 95 | V/L | 131 | rs1373489781 | 0.3942 | None | gnomAD-4.0.0 | 6.85572E-07 |