10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | S | F | I | K | T | L | E | P | A | D | I | V | R | G | T | N | A | L | L | Q | C | E | V | S | G | T | G | P | F | E | I | S | W | F | K | D | K | K | Q | I | R | S | S | K | K | Y | R | L | F | S | Q | K | S | L | V | C | L | E | I | F | S | F | N | S | A | D | V | G | E | Y | E | C | V | V | A | N | E | V | G | K | C | G | C | M | A | T | H | L | L | K | E | P | P | T | F | V | K | K | V | D | D | L | I | A | L | G | G | Q | T | V | T | L | Q | A | A | V | R | G | S | E | P | I | S | V | T | W | M | K | G | Q | E | V | I | R | E | D | G | K | I | K | M | S | F | S | N | G | V | A | V | L | I | I | P | D | V | Q | I | S | F | G | G | K | Y | T | C | L | A | E | N | E | A | G | S | Q | T | S | V | G | E | L | I | V | K |
- | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | P | T | F | V | K | K | V | D | D | L | I | A | L | G | G | Q | T | V | T | L | Q | A | A | V | R | G | S | E | P | I | S | V | T | W | M | K | G | Q | E | V | I | R | E | D | G | K | I | K | M | S | F | S | N | G | V | A | V | L | I | I | P | D | V | Q | I | S | F | G | G | K | Y | T | C | L | A | E | N | E | A | G | S | Q | T | S | V | G | E | L | I | V | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
5169 | 2 | T/N | 2 | rs761475085 | 0.4159 | None | gnomAD-4.0.0 | 1.6477E-06 | |
5169 | 2 | T/S | 2 | rs761475085 | 0.4159 | None | gnomAD-2.1.1 | 4.17E-06 | |
5169 | 2 | T/S | 2 | rs761475085 | 0.4159 | None | gnomAD-4.0.0 | 1.6477E-06 | |
5171 | 4 | V/L | 4 | rs776104290 | 0.4627 | None | gnomAD-2.1.1 | 4.13E-06 | |
5171 | 4 | V/L | 4 | rs776104290 | 0.4627 | None | gnomAD-4.0.0 | 1.63143E-06 | |
5172 | 5 | K/N | 5 | None | 0.3134 | None | gnomAD-4.0.0 | 2.40064E-06 | |
5173 | 6 | K/T | 7 | None | 0.6374 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5174 | 7 | V/G | 8 | None | 0.1469 | None | gnomAD-4.0.0 | 1.62443E-06 | |
5174 | 7 | V/I | 8 | rs1169617547 | 0.1469 | None | gnomAD-2.1.1 | 4.11E-06 | |
5174 | 7 | V/I | 8 | rs1169617547 | 0.1469 | None | gnomAD-4.0.0 | 3.24997E-06 | |
5175 | 8 | D/A | 9 | rs903635675 | 0.5800 | None | gnomAD-2.1.1 | 4.09E-06 | |
5175 | 8 | D/A | 9 | rs903635675 | 0.5800 | None | gnomAD-4.0.0 | 3.2444E-06 | |
5175 | 8 | D/E | 9 | None | 0.5800 | None | gnomAD-4.0.0 | 1.62141E-06 | |
5175 | 8 | D/G | 9 | rs903635675 | 0.5800 | None | gnomAD-4.0.0 | 1.6222E-06 | |
5175 | 8 | D/H | 9 | rs2080971523 | 0.5800 | None | gnomAD-4.0.0 | 1.37983E-06 | |
5175 | 8 | D/N | 9 | None | 0.5800 | None | gnomAD-4.0.0 | 6.89914E-07 | |
5176 | 9 | D/Y | 11 | rs1421517847 | 0.7297 | None | gnomAD-2.1.1 | 4.09E-06 | |
5176 | 9 | D/Y | 11 | rs1421517847 | 0.7297 | None | gnomAD-3.1.2 | 1.97E-05 | |
5176 | 9 | D/Y | 11 | rs1421517847 | 0.7297 | None | gnomAD-4.0.0 | 3.12136E-06 | |
5177 | 10 | L/W | 13 | rs1205797095 | 0.4205 | None | gnomAD-3.1.2 | 6.57E-06 | |
5177 | 10 | L/W | 13 | rs1205797095 | 0.4205 | None | gnomAD-4.0.0 | 6.5716E-06 | |
5179 | 12 | A/T | 16 | rs536853382 | 0.1539 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5180 | 13 | L/V | 18 | None | 0.6316 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5181 | 14 | G/A | 23 | rs201185434 | 0.4580 | None | gnomAD-2.1.1 | 4.09427E-04 | |
5181 | 14 | G/A | 23 | rs201185434 | 0.4580 | None | gnomAD-3.1.2 | 1.00565E-03 | |
5181 | 14 | G/A | 23 | rs201185434 | 0.4580 | None | 1000 genomes | 1.39776E-03 | |
5181 | 14 | G/A | 23 | rs201185434 | 0.4580 | None | gnomAD-4.0.0 | 1.70952E-04 | |
5181 | 14 | G/R | 23 | rs1477393359 | 0.4580 | None | gnomAD-2.1.1 | 8.1E-06 | |
5181 | 14 | G/R | 23 | rs1477393359 | 0.4580 | None | gnomAD-4.0.0 | 6.86807E-07 | |
5182 | 15 | G/R | 24 | rs775552018 | 0.3452 | None | gnomAD-2.1.1 | 2.43E-05 | |
5182 | 15 | G/R | 24 | rs775552018 | 0.3452 | None | gnomAD-3.1.2 | 6.57E-06 | |
5182 | 15 | G/R | 24 | rs775552018 | 0.3452 | None | gnomAD-4.0.0 | 6.86816E-07 | |
5184 | 17 | T/A | 26 | None | 0.4448 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5184 | 17 | T/I | 26 | None | 0.4448 | None | gnomAD-4.0.0 | 6.84379E-07 | |
5184 | 17 | T/N | 26 | None | 0.4448 | None | gnomAD-4.0.0 | 6.84379E-07 | |
5185 | 18 | V/A | 28 | None | 0.1851 | None | gnomAD-4.0.0 | 6.84303E-07 | |
5185 | 18 | V/D | 28 | None | 0.1851 | None | gnomAD-4.0.0 | 6.84303E-07 | |
5185 | 18 | V/I | 28 | rs370535651 | 0.1851 | None | gnomAD-2.1.1 | 1.037E-04 | |
5185 | 18 | V/I | 28 | rs370535651 | 0.1851 | None | gnomAD-3.1.2 | 1.44649E-04 | |
5185 | 18 | V/I | 28 | rs370535651 | 0.1851 | None | gnomAD-4.0.0 | 4.0291E-05 | |
5186 | 19 | T/S | 29 | None | 0.4107 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5187 | 20 | L/P | 30 | None | 0.1730 | None | gnomAD-4.0.0 | 6.84277E-07 | |
5187 | 20 | L/Q | 30 | None | 0.1730 | None | gnomAD-4.0.0 | 6.84277E-07 | |
5188 | 21 | Q/K | 31 | rs886038908 | 0.5094 | None | gnomAD-2.1.1 | 1.07E-05 | |
5188 | 21 | Q/K | 31 | rs886038908 | 0.5094 | None | gnomAD-3.1.2 | 1.31E-05 | |
5188 | 21 | Q/K | 31 | rs886038908 | 0.5094 | None | gnomAD-4.0.0 | 5.57778E-06 | |
5188 | 21 | Q/P | 31 | rs72648930 | 0.5094 | None | gnomAD-2.1.1 | 1.00032E-03 | |
5188 | 21 | Q/P | 31 | rs72648930 | 0.5094 | None | gnomAD-3.1.2 | 1.05818E-03 | |
5188 | 21 | Q/P | 31 | rs72648930 | 0.5094 | None | 1000 genomes | 1.99681E-04 | |
5188 | 21 | Q/P | 31 | rs72648930 | 0.5094 | None | gnomAD-4.0.0 | 1.73762E-03 | |
5190 | 23 | A/S | 34 | None | 0.1635 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5191 | 24 | V/G | 35 | None | 0.1557 | None | gnomAD-4.0.0 | 6.00161E-06 | |
5192 | 25 | R/K | 38 | None | 0.5555 | None | gnomAD-4.0.0 | 2.40064E-06 | |
5193 | 26 | G/E | 40 | rs1345800010 | 0.2705 | None | gnomAD-2.1.1 | 8.04E-06 | |
5193 | 26 | G/E | 40 | rs1345800010 | 0.2705 | None | gnomAD-3.1.2 | 1.97E-05 | |
5193 | 26 | G/E | 40 | rs1345800010 | 0.2705 | None | gnomAD-4.0.0 | 1.54937E-05 | |
5193 | 26 | G/R | 40 | None | 0.2705 | None | gnomAD-4.0.0 | 1.36845E-06 | |
5195 | 28 | E/G | 42 | rs72648931 | 0.4891 | None | gnomAD-2.1.1 | 9.81729E-04 | |
5195 | 28 | E/G | 42 | rs72648931 | 0.4891 | None | gnomAD-3.1.2 | 2.82582E-03 | |
5195 | 28 | E/G | 42 | rs72648931 | 0.4891 | None | 1000 genomes | 2.39617E-03 | |
5195 | 28 | E/G | 42 | rs72648931 | 0.4891 | None | gnomAD-4.0.0 | 4.85801E-04 | |
5197 | 30 | I/L | 44 | rs781467868 | 0.1307 | None | gnomAD-2.1.1 | 2.41E-05 | |
5197 | 30 | I/L | 44 | rs781467868 | 0.1307 | None | gnomAD-3.1.2 | 1.97E-05 | |
5197 | 30 | I/L | 44 | rs781467868 | 0.1307 | None | gnomAD-4.0.0 | 1.15295E-05 | |
5198 | 31 | S/F | 45 | None | 0.3843 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5199 | 32 | V/F | 46 | rs1370452174 | 0.2590 | None | gnomAD-4.0.0 | 7.20193E-06 | |
5202 | 35 | M/I | 49 | None | 0.1788 | None | gnomAD-4.0.0 | 1.56042E-05 | |
5202 | 35 | M/K | 49 | None | 0.1788 | None | gnomAD-2.1.1 | 8.04E-06 | |
5202 | 35 | M/K | 49 | None | 0.1788 | None | gnomAD-3.1.2 | 6.58E-06 | |
5202 | 35 | M/K | 49 | None | 0.1788 | None | gnomAD-4.0.0 | 3.7183E-06 | |
5202 | 35 | M/R | 49 | rs764755768 | 0.1788 | None | gnomAD-4.0.0 | 6.84205E-07 | |
5202 | 35 | M/T | 49 | rs764755768 | 0.1788 | None | gnomAD-2.1.1 | 4.02E-06 | |
5202 | 35 | M/T | 49 | rs764755768 | 0.1788 | None | gnomAD-4.0.0 | 6.15785E-06 | |
5204 | 37 | G/D | 51 | rs1171039782 | 0.4684 | None | gnomAD-2.1.1 | 4.02E-06 | |
5206 | 39 | E/K | 55 | None | 0.8308 | None | gnomAD-4.0.0 | 6.00161E-06 | |
5207 | 40 | V/L | 56 | None | 0.5008 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5209 | 42 | R/G | 59 | rs1392727449 | 0.8774 | None | gnomAD-2.1.1 | 4.02E-06 | |
5209 | 42 | R/G | 59 | rs1392727449 | 0.8774 | None | gnomAD-3.1.2 | 6.57E-06 | |
5209 | 42 | R/G | 59 | rs1392727449 | 0.8774 | None | gnomAD-4.0.0 | 2.56194E-06 | |
5209 | 42 | R/K | 59 | None | 0.8774 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5210 | 43 | E/Q | 70 | None | 0.5124 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5211 | 44 | D/A | 73 | rs1174909402 | 0.4470 | None | gnomAD-2.1.1 | 4.02E-06 | |
5211 | 44 | D/A | 73 | rs1174909402 | 0.4470 | None | gnomAD-4.0.0 | 1.59118E-06 | |
5211 | 44 | D/E | 73 | rs534365478 | 0.4470 | None | gnomAD-2.1.1 | 3.19E-05 | |
5211 | 44 | D/E | 73 | rs534365478 | 0.4470 | None | gnomAD-3.1.2 | 6.58E-06 | |
5211 | 44 | D/E | 73 | rs534365478 | 0.4470 | None | gnomAD-4.0.0 | 6.57557E-06 | |
5211 | 44 | D/H | 73 | None | 0.4470 | None | gnomAD-4.0.0 | 2.05257E-06 | |
5211 | 44 | D/N | 73 | None | 0.4470 | None | gnomAD-4.0.0 | 6.84191E-07 | |
5212 | 45 | G/E | 102 | None | 0.6746 | None | gnomAD-4.0.0 | 2.40064E-06 | |
5212 | 45 | G/R | 102 | rs377754692 | 0.6746 | None | gnomAD-2.1.1 | 3.21E-05 | |
5212 | 45 | G/R | 102 | rs377754692 | 0.6746 | None | gnomAD-3.1.2 | 2.63E-05 | |
5212 | 45 | G/R | 102 | rs377754692 | 0.6746 | None | gnomAD-4.0.0 | 1.85914E-05 | |
5213 | 46 | K/N | 115 | rs2080952653 | 0.7683 | None | gnomAD-3.1.2 | 6.57E-06 | |
5213 | 46 | K/N | 115 | rs2080952653 | 0.7683 | None | gnomAD-4.0.0 | 6.57445E-06 | |
5214 | 47 | I/V | 121 | None | 0.3055 | None | gnomAD-4.0.0 | 1.59118E-06 | |
5215 | 48 | K/R | 122 | None | 0.6413 | None | gnomAD-4.0.0 | 1.59117E-06 | |
5216 | 49 | M/I | 123 | None | 0.3061 | None | gnomAD-4.0.0 | 1.59119E-06 | |
5216 | 49 | M/R | 123 | None | 0.3061 | None | gnomAD-4.0.0 | 4.80369E-06 | |
5216 | 49 | M/V | 123 | rs1175889760 | 0.3061 | None | gnomAD-2.1.1 | 1.61E-05 | |
5216 | 49 | M/V | 123 | rs1175889760 | 0.3061 | None | gnomAD-4.0.0 | 3.42098E-06 | |
5217 | 50 | S/G | 125 | rs1481811806 | 0.4693 | None | gnomAD-2.1.1 | 4.02E-06 | |
5217 | 50 | S/G | 125 | rs1481811806 | 0.4693 | None | gnomAD-4.0.0 | 1.59117E-06 | |
5217 | 50 | S/N | 125 | rs1479096219 | 0.4693 | None | gnomAD-2.1.1 | 6.37E-05 | |
5217 | 50 | S/N | 125 | rs1479096219 | 0.4693 | None | gnomAD-3.1.2 | 1.31E-05 | |
5217 | 50 | S/N | 125 | rs1479096219 | 0.4693 | None | gnomAD-4.0.0 | 1.42528E-05 | |
5218 | 51 | F/S | 127 | None | 0.3414 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5218 | 51 | F/V | 127 | rs1210028177 | 0.3414 | None | gnomAD-2.1.1 | 4.02E-06 | |
5218 | 51 | F/V | 127 | rs1210028177 | 0.3414 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5219 | 52 | S/P | 130 | rs759581032 | 0.4987 | None | gnomAD-2.1.1 | 8.03E-06 | |
5219 | 52 | S/P | 130 | rs759581032 | 0.4987 | None | gnomAD-4.0.0 | 3.18225E-06 | |
5220 | 53 | N/D | 131 | rs1235055882 | 1.0064 | None | gnomAD-2.1.1 | 4.02E-06 | |
5220 | 53 | N/D | 131 | rs1235055882 | 1.0064 | None | gnomAD-4.0.0 | 4.77345E-06 | |
5220 | 53 | N/S | 131 | rs565670799 | 1.0064 | None | gnomAD-2.1.1 | 3.21E-05 | |
5220 | 53 | N/S | 131 | rs565670799 | 1.0064 | None | gnomAD-3.1.2 | 4.6E-05 | |
5220 | 53 | N/S | 131 | rs565670799 | 1.0064 | None | 1000 genomes | 1.99681E-04 | |
5220 | 53 | N/S | 131 | rs565670799 | 1.0064 | None | gnomAD-4.0.0 | 3.1601E-05 | |
5221 | 54 | G/A | 134 | rs771186700 | 0.2088 | None | gnomAD-2.1.1 | 4.02E-06 | |
5221 | 54 | G/A | 134 | rs771186700 | 0.2088 | None | gnomAD-4.0.0 | 6.8419E-07 | |
5221 | 54 | G/D | 134 | None | 0.2088 | None | gnomAD-2.1.1 | 4.02E-06 | |
5221 | 54 | G/D | 134 | None | 0.2088 | None | gnomAD-3.1.2 | 6.57E-06 | |
5221 | 54 | G/D | 134 | None | 0.2088 | None | gnomAD-4.0.0 | 1.23935E-05 | |
5221 | 54 | G/V | 134 | rs771186700 | 0.2088 | None | gnomAD-2.1.1 | 4.02E-06 | |
5221 | 54 | G/V | 134 | rs771186700 | 0.2088 | None | gnomAD-3.1.2 | 6.57E-06 | |
5221 | 54 | G/V | 134 | rs771186700 | 0.2088 | None | gnomAD-4.0.0 | 1.79706E-05 | |
5223 | 56 | A/S | 136 | rs749315462 | 0.0987 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5223 | 56 | A/T | 136 | rs749315462 | 0.0987 | None | gnomAD-2.1.1 | 4.02E-06 | |
5224 | 57 | V/F | 137 | rs773550460 | 0.2500 | None | gnomAD-2.1.1 | 2.01E-05 | |
5224 | 57 | V/F | 137 | rs773550460 | 0.2500 | None | gnomAD-3.1.2 | 6.57E-06 | |
5224 | 57 | V/F | 137 | rs773550460 | 0.2500 | None | gnomAD-4.0.0 | 2.43391E-05 | |
5224 | 57 | V/G | 137 | None | 0.2500 | None | gnomAD-4.0.0 | 3.60097E-06 | |
5226 | 59 | I/L | 139 | None | 0.3462 | None | gnomAD-4.0.0 | 4.77345E-06 | |
5226 | 59 | I/M | 139 | None | 0.3462 | None | gnomAD-4.0.0 | 1.59116E-06 | |
5227 | 60 | I/F | 140 | None | 0.1480 | None | gnomAD-4.0.0 | 1.59116E-06 | |
5227 | 60 | I/V | 140 | rs2080946599 | 0.1480 | None | gnomAD-3.1.2 | 6.57E-06 | |
5227 | 60 | I/V | 140 | rs2080946599 | 0.1480 | None | gnomAD-4.0.0 | 6.57117E-06 | |
5229 | 62 | D/A | 143 | rs373355675 | 0.5995 | None | gnomAD-2.1.1 | 4.02E-06 | |
5229 | 62 | D/A | 143 | rs373355675 | 0.5995 | None | gnomAD-3.1.2 | 1.31E-05 | |
5229 | 62 | D/A | 143 | rs373355675 | 0.5995 | None | gnomAD-4.0.0 | 3.84297E-06 | |
5229 | 62 | D/H | 143 | None | 0.5995 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5230 | 63 | V/I | 144 | rs369294144 | 0.1053 | None | gnomAD-2.1.1 | 4.02E-06 | |
5230 | 63 | V/I | 144 | rs369294144 | 0.1053 | None | gnomAD-3.1.2 | 6.57E-06 | |
5230 | 63 | V/I | 144 | rs369294144 | 0.1053 | None | gnomAD-4.0.0 | 2.47869E-06 | |
5232 | 65 | I/L | 146 | None | 0.7812 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5233 | 66 | S/G | 148 | None | 0.4526 | None | gnomAD-4.0.0 | 1.59119E-06 | |
5233 | 66 | S/R | 148 | None | 0.4526 | None | gnomAD-4.0.0 | 1.59119E-06 | |
5234 | 67 | F/L | 149 | None | 0.3074 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5235 | 68 | G/R | 151 | None | 0.2513 | None | gnomAD-4.0.0 | 1.59126E-06 | |
5236 | 69 | G/D | 152 | rs755295120 | 0.2419 | None | gnomAD-2.1.1 | 3.22E-05 | |
5236 | 69 | G/D | 152 | rs755295120 | 0.2419 | None | gnomAD-4.0.0 | 1.43219E-05 | |
5237 | 70 | K/I | 153 | rs2080944134 | 0.4702 | None | gnomAD-4.0.0 | 6.84216E-07 | |
5237 | 70 | K/T | 153 | None | 0.4702 | None | gnomAD-4.0.0 | 6.84216E-07 | |
5239 | 72 | T/K | 155 | rs756844952 | 0.1967 | None | gnomAD-2.1.1 | 4.02E-06 | |
5239 | 72 | T/K | 155 | rs756844952 | 0.1967 | None | gnomAD-4.0.0 | 6.84295E-07 | |
5239 | 72 | T/M | 155 | rs756844952 | 0.1967 | None | gnomAD-2.1.1 | 1.43E-05 | |
5239 | 72 | T/M | 155 | rs756844952 | 0.1967 | None | gnomAD-3.1.2 | 3.29E-05 | |
5239 | 72 | T/M | 155 | rs756844952 | 0.1967 | None | gnomAD-4.0.0 | 2.16923E-05 | |
5239 | 72 | T/R | 155 | None | 0.1967 | None | gnomAD-4.0.0 | 6.84295E-07 | |
5240 | 73 | C/G | 156 | None | 0.0723 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5241 | 74 | L/P | 157 | rs1448200477 | 0.2875 | None | gnomAD-3.1.2 | 6.57E-06 | |
5241 | 74 | L/P | 157 | rs1448200477 | 0.2875 | None | gnomAD-4.0.0 | 6.56944E-06 | |
5241 | 74 | L/Q | 157 | rs1448200477 | 0.2875 | None | gnomAD-4.0.0 | 1.59264E-06 | |
5242 | 75 | A/T | 158 | rs763604864 | 0.0937 | None | gnomAD-2.1.1 | 4.03E-06 | |
5242 | 75 | A/T | 158 | rs763604864 | 0.0937 | None | gnomAD-4.0.0 | 1.59333E-06 | |
5244 | 77 | N/D | 161 | rs2080941316 | 0.1426 | None | gnomAD-3.1.2 | 6.57E-06 | |
5244 | 77 | N/D | 161 | rs2080941316 | 0.1426 | None | gnomAD-4.0.0 | 6.5697E-06 | |
5244 | 77 | N/S | 161 | rs755749411 | 0.1426 | None | gnomAD-2.1.1 | 4.03E-06 | |
5244 | 77 | N/S | 161 | rs755749411 | 0.1426 | None | gnomAD-4.0.0 | 1.36932E-06 | |
5247 | 80 | G/E | 164 | rs767464148 | 0.2522 | None | gnomAD-4.0.0 | 1.11584E-05 | |
5248 | 81 | S/N | 165 | rs2080939542 | 0.4212 | None | gnomAD-3.1.2 | 6.57E-06 | |
5248 | 81 | S/N | 165 | rs2080939542 | 0.4212 | None | gnomAD-4.0.0 | 6.57056E-06 | |
5250 | 83 | T/I | 168 | rs759384825 | 0.4394 | None | gnomAD-2.1.1 | 4.43E-05 | |
5250 | 83 | T/I | 168 | rs759384825 | 0.4394 | None | gnomAD-3.1.2 | 6.57E-06 | |
5250 | 83 | T/I | 168 | rs759384825 | 0.4394 | None | gnomAD-4.0.0 | 1.30232E-05 | |
5250 | 83 | T/P | 168 | None | 0.4394 | None | gnomAD-4.0.0 | 1.59445E-06 | |
5251 | 84 | S/C | 169 | rs770408836 | 0.0944 | None | gnomAD-2.1.1 | 4.03E-06 | |
5251 | 84 | S/C | 169 | rs770408836 | 0.0944 | None | gnomAD-4.0.0 | 1.59477E-06 | |
5252 | 85 | V/F | 171 | None | 0.3986 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5254 | 87 | E/K | 173 | rs867275748 | 0.3238 | None | gnomAD-3.1.2 | 6.57E-06 | |
5254 | 87 | E/K | 173 | rs867275748 | 0.3238 | None | gnomAD-4.0.0 | 6.57125E-06 | |
5254 | 87 | E/Q | 173 | rs867275748 | 0.3238 | None | gnomAD-2.1.1 | 4.03E-06 | |
5254 | 87 | E/Q | 173 | rs867275748 | 0.3238 | None | gnomAD-4.0.0 | 1.59662E-06 | |
5256 | 89 | I/T | 175 | rs773177460 | 0.4211 | None | gnomAD-2.1.1 | 4.04E-06 | |
5256 | 89 | I/T | 175 | rs773177460 | 0.4211 | None | gnomAD-3.1.2 | 6.57E-06 | |
5256 | 89 | I/T | 175 | rs773177460 | 0.4211 | None | gnomAD-4.0.0 | 2.48319E-06 | |
5257 | 90 | V/L | 177 | rs879227338 | 0.1933 | None | gnomAD-2.1.1 | 7.17E-06 | |
5257 | 90 | V/L | 177 | rs879227338 | 0.1933 | None | gnomAD-3.1.2 | 6.57E-06 | |
5257 | 90 | V/L | 177 | rs879227338 | 0.1933 | None | gnomAD-4.0.0 | 5.14754E-06 |