10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
R | P | S | A | P | K | E | L | K | F | G | D | I | T | K | D | S | V | H | L | T | W | E | P | P | D | D | D | G | G | S | P | L | T | G | Y | V | V | E | K | R | E | V | S | R | K | T | W | T | K | V | M | D | F | V | T | D | L | E | F | T | V | P | D | L | V | Q | G | K | E | Y | L | F | K | V | C | A | R | N | K | C | G | P | G | E | P | A | Y | V | D | E | P | V | N | M | S | T | P | A | T | V | P | D | P | P | E | N | V | K | W | R | D | R | T | A | N | S | I | F | L | T | W | D | P | P | K | N | D | G | G | S | R | I | K | G | Y | I | V | E | R | C | P | R | G | S | D | K | W | V | A | C | G | E | P | V | A | E | T | K | M | E | V | T | G | L | E | E | G | K | W | Y | A | Y | R | V | K | A | L | N | R | Q | G | A | S | K | P | S | R | P | T | E | E | I | Q | A | V | D | T |
R | P | S | A | P | K | E | L | K | F | G | D | I | T | K | D | S | V | H | L | T | W | E | P | P | D | D | D | G | G | S | P | L | T | G | Y | V | V | E | K | R | E | V | S | R | K | T | W | T | K | V | M | D | F | V | T | D | L | E | F | T | V | P | D | L | V | Q | G | K | E | Y | L | F | K | V | C | A | R | N | K | C | G | P | G | E | P | A | Y | V | D | E | P | V | N | M | S | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | T |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
16055 | 1 | R/C | 1 | rs1012450335 | 0.5836 | None | gnomAD-2.1.1 | 7.2E-06 | |
16055 | 1 | R/C | 1 | rs1012450335 | 0.5836 | None | gnomAD-3.1.2 | 6.6E-06 | |
16055 | 1 | R/C | 1 | rs1012450335 | 0.5836 | None | gnomAD-4.0.0 | 7.44848E-06 | |
16055 | 1 | R/H | 1 | rs72677238 | 0.5836 | None | gnomAD-2.1.1 | 1.21551E-04 | |
16055 | 1 | R/H | 1 | rs72677238 | 0.5836 | None | gnomAD-3.1.2 | 3.3E-05 | |
16055 | 1 | R/H | 1 | rs72677238 | 0.5836 | None | gnomAD-4.0.0 | 1.07402E-04 | |
16056 | 2 | P/L | 2 | rs752993848 | 0.1180 | None | gnomAD-2.1.1 | 8.25E-05 | |
16056 | 2 | P/L | 2 | rs752993848 | 0.1180 | None | gnomAD-3.1.2 | 6.59E-06 | |
16056 | 2 | P/L | 2 | rs752993848 | 0.1180 | None | gnomAD-4.0.0 | 2.29556E-05 | |
16056 | 2 | P/S | 2 | rs2057390140 | 0.1180 | None | gnomAD-4.0.0 | 1.59508E-06 | |
16057 | 3 | S/G | 3 | rs886042119 | 0.2336 | None | gnomAD-4.0.0 | 2.73938E-06 | |
16057 | 3 | S/R | 3 | rs886042119 | 0.2336 | None | gnomAD-3.1.2 | 6.59E-06 | |
16057 | 3 | S/R | 3 | rs886042119 | 0.2336 | None | gnomAD-4.0.0 | 2.56759E-06 | |
16057 | 3 | S/T | 3 | rs548796322 | 0.2336 | None | gnomAD-3.1.2 | 6.59E-06 | |
16057 | 3 | S/T | 3 | rs548796322 | 0.2336 | None | 1000 genomes | 1.99681E-04 | |
16057 | 3 | S/T | 3 | rs548796322 | 0.2336 | None | gnomAD-4.0.0 | 2.03042E-06 | |
16058 | 4 | A/V | 4 | rs767579172 | 0.2122 | None | gnomAD-4.0.0 | 2.05454E-06 | |
16059 | 5 | P/H | 5 | None | 0.1427 | None | gnomAD-4.0.0 | 1.59465E-06 | |
16059 | 5 | P/L | 5 | rs2057387572 | 0.1427 | None | gnomAD-3.1.2 | 6.6E-06 | |
16059 | 5 | P/L | 5 | rs2057387572 | 0.1427 | None | gnomAD-4.0.0 | 6.5957E-06 | |
16059 | 5 | P/S | 5 | None | 0.1427 | None | gnomAD-4.0.0 | 1.36966E-06 | |
16059 | 5 | P/T | 5 | None | 0.1427 | None | gnomAD-4.0.0 | 6.84832E-07 | |
16060 | 6 | K/E | 6 | rs2057387280 | 0.2992 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16062 | 8 | L/F | 9 | None | 0.1660 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16064 | 10 | F/C | 12 | None | 0.3785 | None | gnomAD-4.0.0 | 1.59429E-06 | |
16065 | 11 | G/D | 13 | rs1490446261 | 0.3595 | None | gnomAD-4.0.0 | 6.00162E-06 | |
16067 | 13 | I/K | 15 | None | 0.3490 | None | gnomAD-4.0.0 | 1.36952E-06 | |
16067 | 13 | I/R | 15 | rs2057385323 | 0.3490 | None | gnomAD-3.1.2 | 6.58E-06 | |
16067 | 13 | I/R | 15 | rs2057385323 | 0.3490 | None | gnomAD-4.0.0 | 6.58458E-06 | |
16067 | 13 | I/T | 15 | rs2057385323 | 0.3490 | None | gnomAD-4.0.0 | 1.36952E-06 | |
16067 | 13 | I/V | 15 | rs1272100018 | 0.3490 | None | gnomAD-2.1.1 | 4.04E-06 | |
16067 | 13 | I/V | 15 | rs1272100018 | 0.3490 | None | gnomAD-4.0.0 | 1.59426E-06 | |
16069 | 15 | K/E | 17 | rs752099554 | 0.6138 | None | gnomAD-2.1.1 | 4.04E-06 | |
16069 | 15 | K/E | 17 | rs752099554 | 0.6138 | None | gnomAD-4.0.0 | 1.59419E-06 | |
16070 | 16 | D/A | 18 | rs2057384107 | 0.3417 | None | gnomAD-3.1.2 | 6.59E-06 | |
16070 | 16 | D/A | 18 | rs2057384107 | 0.3417 | None | gnomAD-4.0.0 | 2.56708E-06 | |
16070 | 16 | D/E | 18 | None | 0.3417 | None | gnomAD-4.0.0 | 1.59418E-06 | |
16071 | 17 | S/L | 19 | rs794727332 | 0.1721 | None | gnomAD-2.1.1 | 8.07E-06 | |
16071 | 17 | S/L | 19 | rs794727332 | 0.1721 | None | gnomAD-4.0.0 | 2.19121E-05 | |
16072 | 18 | V/I | 20 | rs1259814759 | 0.0979 | None | gnomAD-2.1.1 | 6.38E-05 | |
16072 | 18 | V/I | 20 | rs1259814759 | 0.0979 | None | gnomAD-3.1.2 | 6.59E-06 | |
16072 | 18 | V/I | 20 | rs1259814759 | 0.0979 | None | gnomAD-4.0.0 | 1.2405E-06 | |
16072 | 18 | V/L | 20 | None | 0.0979 | None | gnomAD-4.0.0 | 6.84744E-07 | |
16073 | 19 | H/R | 21 | None | 0.2976 | None | gnomAD-4.0.0 | 1.59406E-06 | |
16073 | 19 | H/Y | 21 | rs1343135130 | 0.2976 | None | gnomAD-2.1.1 | 4.03E-06 | |
16073 | 19 | H/Y | 21 | rs1343135130 | 0.2976 | None | gnomAD-4.0.0 | 1.59414E-06 | |
16074 | 20 | L/F | 22 | rs1285719180 | 0.1041 | None | gnomAD-2.1.1 | 4.03E-06 | |
16074 | 20 | L/F | 22 | rs1285719180 | 0.1041 | None | gnomAD-4.0.0 | 6.84733E-07 | |
16075 | 21 | T/S | 23 | rs773602170 | 0.3384 | None | gnomAD-2.1.1 | 4.03E-06 | |
16075 | 21 | T/S | 23 | rs773602170 | 0.3384 | None | gnomAD-4.0.0 | 1.59408E-06 | |
16079 | 25 | P/H | 27 | None | 0.1625 | None | gnomAD-4.0.0 | 6.84724E-07 | |
16079 | 25 | P/R | 27 | None | 0.1625 | None | gnomAD-4.0.0 | 6.84724E-07 | |
16079 | 25 | P/S | 27 | rs760271431 | 0.1625 | None | gnomAD-2.1.1 | 1.21E-05 | |
16079 | 25 | P/S | 27 | rs760271431 | 0.1625 | None | gnomAD-4.0.0 | 4.78197E-06 | |
16080 | 26 | D/G | 28 | rs775135961 | 0.8570 | None | gnomAD-2.1.1 | 4.03E-06 | |
16080 | 26 | D/G | 28 | rs775135961 | 0.8570 | None | gnomAD-3.1.2 | 6.58E-06 | |
16080 | 26 | D/G | 28 | rs775135961 | 0.8570 | None | gnomAD-4.0.0 | 5.13317E-06 | |
16080 | 26 | D/N | 28 | rs1397418209 | 0.8570 | None | gnomAD-2.1.1 | 4.03E-06 | |
16080 | 26 | D/N | 28 | rs1397418209 | 0.8570 | None | gnomAD-4.0.0 | 1.59397E-06 | |
16081 | 27 | D/G | 29 | None | 0.5605 | None | gnomAD-4.0.0 | 1.59394E-06 | |
16081 | 27 | D/N | 29 | None | 0.5605 | None | gnomAD-4.0.0 | 4.8013E-06 | |
16082 | 28 | D/E | 30 | None | 0.2542 | None | gnomAD-4.0.0 | 6.84712E-07 | |
16082 | 28 | D/G | 30 | rs1468269495 | 0.2542 | None | gnomAD-2.1.1 | 4.03E-06 | |
16082 | 28 | D/G | 30 | rs1468269495 | 0.2542 | None | gnomAD-4.0.0 | 3.18795E-06 | |
16083 | 29 | G/E | 31 | rs778888847 | 0.3377 | None | gnomAD-2.1.1 | 8.07E-06 | |
16083 | 29 | G/E | 31 | rs778888847 | 0.3377 | None | gnomAD-4.0.0 | 4.78191E-06 | |
16083 | 29 | G/R | 31 | rs745429154 | 0.3377 | None | gnomAD-2.1.1 | 4.03E-06 | |
16083 | 29 | G/R | 31 | rs745429154 | 0.3377 | None | gnomAD-4.0.0 | 1.594E-06 | |
16084 | 30 | G/A | 32 | None | 0.5821 | None | gnomAD-4.0.0 | 6.84696E-07 | |
16084 | 30 | G/E | 32 | None | 0.5821 | None | gnomAD-4.0.0 | 6.84696E-07 | |
16084 | 30 | G/R | 32 | rs1331594861 | 0.5821 | None | gnomAD-3.1.2 | 6.59E-06 | |
16084 | 30 | G/R | 32 | rs1331594861 | 0.5821 | None | gnomAD-4.0.0 | 6.58683E-06 | |
16086 | 32 | P/L | 34 | rs567496224 | 0.6948 | None | gnomAD-2.1.1 | 8.07E-06 | |
16086 | 32 | P/L | 34 | rs567496224 | 0.6948 | None | gnomAD-3.1.2 | 6.59E-06 | |
16086 | 32 | P/L | 34 | rs567496224 | 0.6948 | None | 1000 genomes | 1.99681E-04 | |
16086 | 32 | P/L | 34 | rs567496224 | 0.6948 | None | gnomAD-4.0.0 | 2.17098E-05 | |
16089 | 35 | G/E | 37 | None | 0.1272 | None | gnomAD-4.0.0 | 1.59398E-06 | |
16089 | 35 | G/R | 37 | rs2057375526 | 0.1272 | None | gnomAD-3.1.2 | 6.59E-06 | |
16089 | 35 | G/R | 37 | rs2057375526 | 0.1272 | None | gnomAD-4.0.0 | 6.5864E-06 | |
16090 | 36 | Y/C | 38 | rs752903826 | 0.1309 | None | gnomAD-4.0.0 | 1.59404E-06 | |
16091 | 37 | V/I | 39 | rs369143612 | 0.1705 | None | gnomAD-2.1.1 | 3.94E-05 | |
16091 | 37 | V/I | 39 | rs369143612 | 0.1705 | None | gnomAD-3.1.2 | 5.93E-05 | |
16091 | 37 | V/I | 39 | rs369143612 | 0.1705 | None | gnomAD-4.0.0 | 1.05436E-05 | |
16091 | 37 | V/L | 39 | rs369143612 | 0.1705 | None | gnomAD-3.1.2 | 6.59E-06 | |
16091 | 37 | V/L | 39 | rs369143612 | 0.1705 | None | gnomAD-4.0.0 | 6.58692E-06 | |
16092 | 38 | V/I | 40 | None | 0.1075 | None | gnomAD-4.0.0 | 3.18841E-06 | |
16093 | 39 | E/Q | 41 | rs1320775896 | 0.1826 | None | gnomAD-2.1.1 | 4.04E-06 | |
16093 | 39 | E/Q | 41 | rs1320775896 | 0.1826 | None | gnomAD-4.0.0 | 1.59429E-06 | |
16095 | 41 | R/Q | 43 | rs369453963 | 0.2623 | None | gnomAD-2.1.1 | 2.87E-05 | |
16095 | 41 | R/Q | 43 | rs369453963 | 0.2623 | None | gnomAD-3.1.2 | 1.98E-05 | |
16095 | 41 | R/Q | 43 | rs369453963 | 0.2623 | None | gnomAD-4.0.0 | 8.68408E-06 | |
16097 | 43 | V/I | 50 | rs550894260 | 0.4243 | None | gnomAD-2.1.1 | 8.08E-06 | |
16097 | 43 | V/I | 50 | rs550894260 | 0.4243 | None | gnomAD-3.1.2 | 1.32E-05 | |
16097 | 43 | V/I | 50 | rs550894260 | 0.4243 | None | 1000 genomes | 3.99361E-04 | |
16097 | 43 | V/I | 50 | rs550894260 | 0.4243 | None | gnomAD-4.0.0 | 3.10125E-06 | |
16098 | 44 | S/G | 54 | rs750949782 | 0.4953 | None | gnomAD-2.1.1 | 4.04E-06 | |
16098 | 44 | S/G | 54 | rs750949782 | 0.4953 | None | gnomAD-4.0.0 | 3.18902E-06 | |
16099 | 45 | R/Q | 60 | rs376747673 | 0.6351 | None | gnomAD-2.1.1 | 3.23E-05 | |
16099 | 45 | R/Q | 60 | rs376747673 | 0.6351 | None | gnomAD-3.1.2 | 4.61E-05 | |
16099 | 45 | R/Q | 60 | rs376747673 | 0.6351 | None | gnomAD-4.0.0 | 6.82414E-05 | |
16099 | 45 | R/W | 60 | rs765526529 | 0.6351 | None | gnomAD-2.1.1 | 1.21E-05 | |
16099 | 45 | R/W | 60 | rs765526529 | 0.6351 | None | gnomAD-3.1.2 | 6.59E-06 | |
16099 | 45 | R/W | 60 | rs765526529 | 0.6351 | None | gnomAD-4.0.0 | 1.61313E-05 | |
16100 | 46 | K/E | 63 | None | 1.0301 | None | gnomAD-4.0.0 | 1.59465E-06 | |
16101 | 47 | T/I | 64 | None | 0.7064 | None | gnomAD-4.0.0 | 1.59478E-06 | |
16101 | 47 | T/S | 64 | rs1450802850 | 0.7064 | None | gnomAD-2.1.1 | 4.04E-06 | |
16101 | 47 | T/S | 64 | rs1450802850 | 0.7064 | None | gnomAD-4.0.0 | 1.59473E-06 | |
16102 | 48 | W/R | 65 | rs1177161673 | 0.2612 | None | gnomAD-2.1.1 | 4.04E-06 | |
16102 | 48 | W/R | 65 | rs1177161673 | 0.2612 | None | gnomAD-4.0.0 | 1.36972E-06 | |
16103 | 49 | T/I | 66 | None | 0.5275 | None | gnomAD-4.0.0 | 6.84876E-07 | |
16103 | 49 | T/S | 66 | rs1411572700 | 0.5275 | None | gnomAD-3.1.2 | 6.59E-06 | |
16103 | 49 | T/S | 66 | rs1411572700 | 0.5275 | None | gnomAD-4.0.0 | 6.58553E-06 | |
16104 | 50 | K/E | 67 | rs1399165116 | 0.4122 | None | gnomAD-3.1.2 | 1.32E-05 | |
16104 | 50 | K/E | 67 | rs1399165116 | 0.4122 | None | gnomAD-4.0.0 | 3.10166E-06 | |
16104 | 50 | K/T | 67 | rs1060500396 | 0.4122 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16105 | 51 | V/I | 68 | None | 0.2239 | None | gnomAD-4.0.0 | 1.37488E-06 | |
16106 | 52 | M/I | 69 | rs762621076 | 0.3412 | None | gnomAD-2.1.1 | 8.15E-06 | |
16106 | 52 | M/I | 69 | rs762621076 | 0.3412 | None | gnomAD-3.1.2 | 6.59E-06 | |
16106 | 52 | M/I | 69 | rs762621076 | 0.3412 | None | gnomAD-4.0.0 | 1.03064E-05 | |
16106 | 52 | M/T | 69 | None | 0.3412 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16107 | 53 | D/G | 70 | rs775805942 | 0.4917 | None | gnomAD-3.1.2 | 1.98E-05 | |
16107 | 53 | D/G | 70 | rs775805942 | 0.4917 | None | gnomAD-4.0.0 | 2.79629E-05 | |
16109 | 55 | V/M | 77 | None | 0.1372 | None | gnomAD-4.0.0 | 1.59682E-06 | |
16110 | 56 | T/S | 83 | None | 0.6063 | None | gnomAD-4.0.0 | 1.59685E-06 | |
16111 | 57 | D/E | 88 | None | 0.6747 | None | gnomAD-4.0.0 | 1.59582E-06 | |
16111 | 57 | D/N | 88 | rs769898196 | 0.6747 | None | gnomAD-2.1.1 | 1.21E-05 | |
16111 | 57 | D/N | 88 | rs769898196 | 0.6747 | None | gnomAD-4.0.0 | 3.42542E-06 | |
16112 | 58 | L/V | 89 | rs747917712 | 0.3073 | None | gnomAD-2.1.1 | 4.04E-06 | |
16112 | 58 | L/V | 89 | rs747917712 | 0.3073 | None | gnomAD-4.0.0 | 3.42527E-06 | |
16113 | 59 | E/D | 90 | None | 0.5393 | None | gnomAD-4.0.0 | 1.59558E-06 | |
16113 | 59 | E/K | 90 | rs548275593 | 0.5393 | None | gnomAD-2.1.1 | 6.86E-05 | |
16113 | 59 | E/K | 90 | rs548275593 | 0.5393 | None | gnomAD-3.1.2 | 2.63E-05 | |
16113 | 59 | E/K | 90 | rs548275593 | 0.5393 | None | gnomAD-4.0.0 | 3.72259E-05 | |
16115 | 61 | T/I | 92 | rs1361995359 | 0.3211 | None | gnomAD-2.1.1 | 4.03E-06 | |
16115 | 61 | T/I | 92 | rs1361995359 | 0.3211 | None | gnomAD-4.0.0 | 4.10984E-06 | |
16115 | 61 | T/R | 92 | None | 0.3211 | None | gnomAD-4.0.0 | 6.84974E-07 | |
16116 | 62 | V/A | 93 | None | 0.1050 | None | gnomAD-4.0.0 | 2.40065E-06 | |
16116 | 62 | V/D | 93 | rs747142700 | 0.1050 | None | gnomAD-2.1.1 | 4.03E-06 | |
16116 | 62 | V/D | 93 | rs747142700 | 0.1050 | None | gnomAD-3.1.2 | 1.97E-05 | |
16116 | 62 | V/D | 93 | rs747142700 | 0.1050 | None | gnomAD-4.0.0 | 1.97431E-05 | |
16116 | 62 | V/I | 93 | rs367769671 | 0.1050 | None | gnomAD-2.1.1 | 1.61E-05 | |
16116 | 62 | V/I | 93 | rs367769671 | 0.1050 | None | gnomAD-3.1.2 | 1.97E-05 | |
16116 | 62 | V/I | 93 | rs367769671 | 0.1050 | None | gnomAD-4.0.0 | 5.21137E-05 | |
16117 | 63 | P/A | 94 | None | 0.4092 | None | gnomAD-4.0.0 | 2.40064E-06 | |
16117 | 63 | P/L | 94 | None | 0.4092 | None | gnomAD-4.0.0 | 1.59514E-06 | |
16118 | 64 | D/G | 96 | rs376273101 | 0.7998 | None | gnomAD-2.1.1 | 2.2911E-04 | |
16118 | 64 | D/G | 96 | rs376273101 | 0.7998 | None | gnomAD-3.1.2 | 1.58007E-04 | |
16118 | 64 | D/G | 96 | rs376273101 | 0.7998 | None | 1000 genomes | 3.99361E-04 | |
16118 | 64 | D/G | 96 | rs376273101 | 0.7998 | None | gnomAD-4.0.0 | 8.18837E-05 | |
16118 | 64 | D/V | 96 | None | 0.7998 | None | gnomAD-4.0.0 | 6.84916E-07 | |
16119 | 65 | L/I | 97 | rs1576477522 | 0.1077 | None | gnomAD-4.0.0 | 1.595E-06 | |
16120 | 66 | V/A | 98 | rs745999025 | 0.5029 | None | gnomAD-2.1.1 | 7.16E-06 | |
16120 | 66 | V/A | 98 | rs745999025 | 0.5029 | None | gnomAD-3.1.2 | 2.63E-05 | |
16120 | 66 | V/A | 98 | rs745999025 | 0.5029 | None | gnomAD-4.0.0 | 5.07592E-06 | |
16121 | 67 | Q/E | 99 | rs779364355 | 0.6256 | None | gnomAD-2.1.1 | 1.21E-05 | |
16121 | 67 | Q/E | 99 | rs779364355 | 0.6256 | None | gnomAD-3.1.2 | 6.59E-06 | |
16121 | 67 | Q/E | 99 | rs779364355 | 0.6256 | None | gnomAD-4.0.0 | 1.79758E-05 | |
16121 | 67 | Q/H | 99 | None | 0.6256 | None | gnomAD-4.0.0 | 1.59477E-06 | |
16123 | 69 | K/N | 102 | rs374696964 | 0.3464 | None | gnomAD-2.1.1 | 1.21E-05 | |
16123 | 69 | K/N | 102 | rs374696964 | 0.3464 | None | gnomAD-3.1.2 | 6.58E-06 | |
16123 | 69 | K/N | 102 | rs374696964 | 0.3464 | None | gnomAD-4.0.0 | 3.85076E-06 | |
16124 | 70 | E/K | 103 | rs754392831 | 0.3438 | None | gnomAD-2.1.1 | 1.21E-05 | |
16126 | 72 | L/S | 105 | rs764312225 | 0.1991 | None | gnomAD-2.1.1 | 4.03E-06 | |
16126 | 72 | L/S | 105 | rs764312225 | 0.1991 | None | gnomAD-4.0.0 | 3.18862E-06 | |
16127 | 73 | F/C | 106 | None | 0.1286 | None | gnomAD-4.0.0 | 1.5945E-06 | |
16128 | 74 | K/E | 107 | None | 0.1069 | None | gnomAD-4.0.0 | 1.59428E-06 | |
16128 | 74 | K/T | 107 | None | 0.1069 | None | gnomAD-4.0.0 | 3.18852E-06 | |
16129 | 75 | V/I | 108 | rs756510403 | 0.0893 | None | gnomAD-2.1.1 | 4.03E-06 | |
16129 | 75 | V/I | 108 | rs756510403 | 0.0893 | None | gnomAD-3.1.2 | 6.58E-06 | |
16129 | 75 | V/I | 108 | rs756510403 | 0.0893 | None | gnomAD-4.0.0 | 2.56674E-06 | |
16131 | 77 | A/G | 110 | None | 0.0941 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16131 | 77 | A/P | 110 | None | 0.0941 | None | gnomAD-4.0.0 | 6.84742E-07 | |
16131 | 77 | A/S | 110 | rs571868215 | 0.0941 | None | gnomAD-2.1.1 | 4.03E-06 | |
16131 | 77 | A/S | 110 | rs571868215 | 0.0941 | None | gnomAD-3.1.2 | 6.58E-06 | |
16131 | 77 | A/S | 110 | rs571868215 | 0.0941 | None | 1000 genomes | 1.99681E-04 | |
16131 | 77 | A/S | 110 | rs571868215 | 0.0941 | None | gnomAD-4.0.0 | 6.82197E-06 | |
16132 | 78 | R/C | 111 | rs2303830 | 0.3851 | None | gnomAD-2.1.1 | 1.60964E-04 | |
16132 | 78 | R/C | 111 | rs2303830 | 0.3851 | None | gnomAD-3.1.2 | 2.43674E-04 | |
16132 | 78 | R/C | 111 | rs2303830 | 0.3851 | None | 1000 genomes | 5.99042E-04 | |
16132 | 78 | R/C | 111 | rs2303830 | 0.3851 | None | gnomAD-4.0.0 | 3.15067E-04 | |
16132 | 78 | R/H | 111 | rs397517593 | 0.3851 | None | gnomAD-2.1.1 | 5.37E-05 | |
16132 | 78 | R/H | 111 | rs397517593 | 0.3851 | None | gnomAD-3.1.2 | 1.98E-05 | |
16132 | 78 | R/H | 111 | rs397517593 | 0.3851 | None | gnomAD-4.0.0 | 5.21002E-05 | |
16133 | 79 | N/K | 112 | rs1060500470 | 0.1072 |
MmD |
Literature | None | |
16134 | 80 | K/N | 113 | rs772886163 | 0.7088 | None | gnomAD-2.1.1 | 4.03E-06 | |
16134 | 80 | K/N | 113 | rs772886163 | 0.7088 | None | gnomAD-3.1.2 | 1.32E-05 | |
16134 | 80 | K/N | 113 | rs772886163 | 0.7088 | None | gnomAD-4.0.0 | 1.31614E-05 | |
16134 | 80 | K/R | 113 | rs1197839427 | 0.7088 | None | gnomAD-2.1.1 | 4.03E-06 | |
16134 | 80 | K/R | 113 | rs1197839427 | 0.7088 | None | gnomAD-4.0.0 | 1.59398E-06 | |
16135 | 81 | C/R | 114 | rs1266340994 | 0.4769 | None | gnomAD-2.1.1 | 4.03E-06 | |
16135 | 81 | C/R | 114 | rs1266340994 | 0.4769 | None | gnomAD-4.0.0 | 1.59396E-06 | |
16135 | 81 | C/Y | 114 | None | 0.4769 | None | gnomAD-4.0.0 | 1.20033E-06 | |
16137 | 83 | P/R | 117 | rs982994931 | 0.4574 | None | gnomAD-2.1.1 | 4.03E-06 | |
16137 | 83 | P/R | 117 | rs982994931 | 0.4574 | None | gnomAD-4.0.0 | 1.59387E-06 | |
16137 | 83 | P/S | 117 | rs879009898 | 0.4574 | None | gnomAD-3.1.2 | 6.59E-06 | |
16137 | 83 | P/S | 117 | rs879009898 | 0.4574 | None | gnomAD-4.0.0 | 1.17846E-05 | |
16140 | 86 | P/L | 120 | None | 0.2625 | None | gnomAD-4.0.0 | 1.59393E-06 | |
16140 | 86 | P/S | 120 | rs1219372837 | 0.2625 | None | gnomAD-2.1.1 | 4.03E-06 | |
16140 | 86 | P/S | 120 | rs1219372837 | 0.2625 | None | gnomAD-4.0.0 | 1.36939E-06 | |
16141 | 87 | A/V | 121 | None | 0.1049 | None | gnomAD-4.0.0 | 2.7388E-06 | |
16142 | 88 | Y/C | 122 | rs761603067 | 0.3886 | None | gnomAD-2.1.1 | 4.03E-06 | |
16142 | 88 | Y/D | 122 | None | 0.3886 | None | gnomAD-4.0.0 | 1.59393E-06 | |
16143 | 89 | V/I | 123 | rs2057207422 | 0.1815 | None | gnomAD-3.1.2 | 6.58E-06 | |
16143 | 89 | V/I | 123 | rs2057207422 | 0.1815 | None | gnomAD-4.0.0 | 6.58241E-06 | |
16144 | 90 | D/A | 124 | rs879133118 | 1.0196 | None | gnomAD-2.1.1 | 2.01E-05 | |
16144 | 90 | D/A | 124 | rs879133118 | 1.0196 | None | gnomAD-3.1.2 | 5.27E-05 | |
16144 | 90 | D/A | 124 | rs879133118 | 1.0196 | None | gnomAD-4.0.0 | 7.44259E-06 | |
16144 | 90 | D/E | 124 | rs776643336 | 1.0196 | None | gnomAD-4.0.0 | 6.84702E-07 | |
16147 | 93 | V/I | 127 | None | 0.1352 | None | gnomAD-4.0.0 | 6.84739E-07 | |
16147 | 93 | V/L | 127 | rs768269007 | 0.1352 | None | gnomAD-2.1.1 | 4.03E-06 | |
16147 | 93 | V/L | 127 | rs768269007 | 0.1352 | None | gnomAD-4.0.0 | 1.36948E-06 | |
16149 | 95 | M/I | 130 | rs2057204111 | 0.1222 | None | gnomAD-4.0.0 | 2.05432E-06 | |
16149 | 95 | M/R | 130 | rs760582847 | 0.1222 | None | gnomAD-2.1.1 | 4.03E-06 | |
16149 | 95 | M/R | 130 | rs760582847 | 0.1222 | None | gnomAD-4.0.0 | 1.36952E-06 | |
16149 | 95 | M/T | 130 | rs760582847 | 0.1222 | None | gnomAD-2.1.1 | 1.79E-05 | |
16149 | 95 | M/T | 130 | rs760582847 | 0.1222 | None | gnomAD-3.1.2 | 6.58E-06 | |
16149 | 95 | M/T | 130 | rs760582847 | 0.1222 | None | gnomAD-4.0.0 | 8.06297E-06 | |
16149 | 95 | M/V | 130 | rs2057205184 | 0.1222 | None | gnomAD-4.0.0 | 6.84764E-07 | |
16150 | 96 | S/L | 131 | None | 0.6614 | None | gnomAD-4.0.0 | 6.84768E-07 | |
16151 | 97 | T/A | 132 | rs186497293 | 0.9765 | None | gnomAD-2.1.1 | 2.64832E-04 | |
16151 | 97 | T/A | 132 | rs186497293 | 0.9765 | None | gnomAD-3.1.2 | 6.71866E-04 | |
16151 | 97 | T/A | 132 | rs186497293 | 0.9765 | None | 1000 genomes | 1.19808E-03 | |
16151 | 97 | T/A | 132 | rs186497293 | 0.9765 | None | gnomAD-4.0.0 | 1.32734E-04 | |
16151 | 97 | T/N | 132 | rs1188604829 | 0.9765 | None | gnomAD-3.1.2 | 6.58E-06 | |
16151 | 97 | T/N | 132 | rs1188604829 | 0.9765 | None | gnomAD-4.0.0 | 6.58285E-06 | |
16151 | 97 | T/P | 132 | rs186497293 | 0.9765 | None | gnomAD-2.1.1 | 8.06E-06 | |
16151 | 97 | T/P | 132 | rs186497293 | 0.9765 | None | gnomAD-3.1.2 | 3.29E-05 | |
16151 | 97 | T/P | 132 | rs186497293 | 0.9765 | None | gnomAD-4.0.0 | 4.96239E-06 |