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P | P | D | P | P | V | D | V | E | V | H | N | P | T | A | E | A | M | T | I | T | W | K | P | P | L | Y | D | G | G | S | K | I | M | G | Y | I | I | E | K | I | A | K | G | E | E | R | W | K | R | C | N | E | H | L | V | P | I | L | T | Y | T | A | K | G | L | E | E | G | K | E | Y | Q | F | R | V | R | A | E | N | A | A | G | I | S | E | P | S | R | A | T | P | P | T | K | A | V | D | P | I | D | A | P | K | V | I | L | R | T | S | L | E | V | K | R | G | D | E | I | A | L | D | A | S | I | S | G | S | P | Y | P | T | I | T | W | I | K | D | E | N | V | I | V | P | E | E | I | K | K | R | A | A | P | L | V | R | R | R | K | G | E | V | Q | E | E | E | P | F | V | L | P | L | T | Q | R | L | S | I | D | N | S | K | K | G | E | S | Q | L | R | V | R | D | S | L | R | P | D | H | G | L | Y | M | I | K | V | E | N | D | H | G | I | A | K | A | P | C | T | V | S | V | L |
P | P | D | P | P | V | D | V | E | V | H | N | P | T | A | E | A | M | T | I | T | W | K | P | P | L | Y | D | G | G | S | K | I | M | G | Y | I | I | E | K | I | A | K | G | E | E | R | W | K | R | C | N | E | H | L | V | P | I | L | T | Y | T | A | K | G | L | E | E | G | K | E | Y | Q | F | R | V | R | A | E | N | A | A | G | I | S | E | P | S | R | A | T | P | P | T | K | A | V | D | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
17147 | 1 | P/H | 1 | rs1193239944 | 0.5305 | None | gnomAD-2.1.1 | 3.2E-05 | |
17147 | 1 | P/H | 1 | rs1193239944 | 0.5305 | None | gnomAD-3.1.2 | 1.32E-05 | |
17147 | 1 | P/H | 1 | rs1193239944 | 0.5305 | None | gnomAD-4.0.0 | 5.58967E-06 | |
17147 | 1 | P/T | 1 | rs876658065 | 0.5305 | None | gnomAD-3.1.2 | 6.58E-06 | |
17147 | 1 | P/T | 1 | rs876658065 | 0.5305 | None | gnomAD-4.0.0 | 2.57391E-06 | |
17148 | 2 | P/A | 2 | None | 0.1140 | None | gnomAD-4.0.0 | 2.40064E-06 | |
17148 | 2 | P/R | 2 | rs2154198776 | 0.1140 | None | gnomAD-4.0.0 | 3.42732E-06 | |
17148 | 2 | P/S | 2 | rs727504193 | 0.1140 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17149 | 3 | D/G | 3 | rs2055912610 | 0.3502 | None | gnomAD-3.1.2 | 6.58E-06 | |
17149 | 3 | D/G | 3 | rs2055912610 | 0.3502 | None | gnomAD-4.0.0 | 6.58267E-06 | |
17150 | 4 | P/L | 4 | rs764792715 | 0.2625 | None | gnomAD-2.1.1 | 4.06E-06 | |
17150 | 4 | P/L | 4 | rs764792715 | 0.2625 | None | gnomAD-3.1.2 | 6.58E-06 | |
17150 | 4 | P/L | 4 | rs764792715 | 0.2625 | None | gnomAD-4.0.0 | 3.72502E-06 | |
17151 | 5 | P/L | 5 | rs756877904 | 0.1091 | None | gnomAD-2.1.1 | 4.05E-06 | |
17151 | 5 | P/S | 5 | rs1203114137 | 0.1091 | None | gnomAD-2.1.1 | 4.05E-06 | |
17151 | 5 | P/S | 5 | rs1203114137 | 0.1091 | None | gnomAD-4.0.0 | 1.37013E-06 | |
17152 | 6 | V/A | 6 | None | 0.2672 | None | gnomAD-4.0.0 | 1.59519E-06 | |
17152 | 6 | V/I | 6 | rs1553692607 | 0.2672 | None | gnomAD-4.0.0 | 2.05508E-06 | |
17153 | 7 | D/E | 7 | rs151281257 | 0.5052 | None | gnomAD-2.1.1 | 5.38E-05 | |
17153 | 7 | D/E | 7 | rs151281257 | 0.5052 | None | gnomAD-3.1.2 | 3.29E-05 | |
17153 | 7 | D/E | 7 | rs151281257 | 0.5052 | None | 1000 genomes | 1.99681E-04 | |
17153 | 7 | D/E | 7 | rs151281257 | 0.5052 | None | gnomAD-4.0.0 | 3.65975E-05 | |
17153 | 7 | D/G | 7 | None | 0.5052 | None | gnomAD-4.0.0 | 1.5951E-06 | |
17154 | 8 | V/A | 9 | rs371799925 | 0.1959 | None | gnomAD-2.1.1 | 2.15E-05 | |
17154 | 8 | V/A | 9 | rs371799925 | 0.1959 | None | gnomAD-3.1.2 | 3.29E-05 | |
17154 | 8 | V/A | 9 | rs371799925 | 0.1959 | None | gnomAD-4.0.0 | 4.34174E-06 | |
17154 | 8 | V/I | 9 | rs374701373 | 0.1959 | None | gnomAD-2.1.1 | 2.02E-05 | |
17154 | 8 | V/I | 9 | rs374701373 | 0.1959 | None | gnomAD-3.1.2 | 4.61E-05 | |
17154 | 8 | V/I | 9 | rs374701373 | 0.1959 | None | gnomAD-4.0.0 | 9.30448E-06 | |
17155 | 9 | E/G | 11 | rs926188442 | 0.5090 | None | gnomAD-3.1.2 | 1.32E-05 | |
17155 | 9 | E/G | 11 | rs926188442 | 0.5090 | None | gnomAD-4.0.0 | 1.31638E-05 | |
17155 | 9 | E/V | 11 | None | 0.5090 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17156 | 10 | V/I | 12 | rs775371086 | 0.2450 | None | gnomAD-2.1.1 | 4.04E-06 | |
17156 | 10 | V/I | 12 | rs775371086 | 0.2450 | None | gnomAD-4.0.0 | 3.18801E-06 | |
17157 | 11 | H/D | 13 | None | 0.3976 | None | gnomAD-4.0.0 | 6.84676E-07 | |
17157 | 11 | H/R | 13 | None | 0.3976 | None | gnomAD-4.0.0 | 1.3693E-06 | |
17157 | 11 | H/Y | 13 | None | 0.3976 | None | gnomAD-4.0.0 | 3.42338E-06 | |
17159 | 13 | P/L | 15 | None | 0.4336 | None | gnomAD-4.0.0 | 3.1868E-06 | |
17159 | 13 | P/T | 15 | None | 0.4336 | None | gnomAD-4.0.0 | 1.59351E-06 | |
17160 | 14 | T/I | 16 | None | 0.3773 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17160 | 14 | T/S | 16 | None | 0.3773 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17161 | 15 | A/S | 17 | None | 0.2750 | None | gnomAD-4.0.0 | 3.18655E-06 | |
17161 | 15 | A/V | 17 | rs16866412 | 0.2750 | None | gnomAD-2.1.1 | 3.46646E-02 | |
17161 | 15 | A/V | 17 | rs16866412 | 0.2750 | None | gnomAD-3.1.2 | 3.83395E-02 | |
17161 | 15 | A/V | 17 | rs16866412 | 0.2750 | None | 1000 genomes | 7.26837E-02 | |
17161 | 15 | A/V | 17 | rs16866412 | 0.2750 | None | gnomAD-4.0.0 | 2.26018E-02 | |
17162 | 16 | E/G | 18 | None | 0.8072 | None | gnomAD-4.0.0 | 1.59316E-06 | |
17164 | 18 | M/I | 20 | None | 0.0989 | None | gnomAD-4.0.0 | 6.84538E-07 | |
17164 | 18 | M/T | 20 | rs1559765154 | 0.0989 | None | gnomAD-2.1.1 | 4.03E-06 | |
17164 | 18 | M/T | 20 | rs1559765154 | 0.0989 | None | gnomAD-4.0.0 | 1.36908E-06 | |
17164 | 18 | M/V | 20 | rs922802371 | 0.0989 | None | gnomAD-3.1.2 | 6.58E-06 | |
17164 | 18 | M/V | 20 | rs922802371 | 0.0989 | None | gnomAD-4.0.0 | 2.48016E-06 | |
17166 | 20 | I/V | 22 | None | 0.0717 | None | gnomAD-4.0.0 | 1.59299E-06 | |
17167 | 21 | T/I | 23 | rs749322226 | 0.2270 | None | gnomAD-2.1.1 | 1.43E-05 | |
17167 | 21 | T/I | 23 | rs749322226 | 0.2270 | None | gnomAD-3.1.2 | 1.97E-05 | |
17167 | 21 | T/I | 23 | rs749322226 | 0.2270 | None | gnomAD-4.0.0 | 6.82039E-06 | |
17169 | 23 | K/M | 25 | rs1167283297 | 0.4498 | None | gnomAD-3.1.2 | 6.58E-06 | |
17169 | 23 | K/M | 25 | rs1167283297 | 0.4498 | None | gnomAD-4.0.0 | 2.56469E-06 | |
17171 | 25 | P/L | 27 | rs770226870 | 0.1504 | None | gnomAD-2.1.1 | 4.03E-06 | |
17171 | 25 | P/L | 27 | rs770226870 | 0.1504 | None | gnomAD-4.0.0 | 3.18577E-06 | |
17171 | 25 | P/S | 27 | rs773302755 | 0.1504 | None | gnomAD-2.1.1 | 1.21E-05 | |
17171 | 25 | P/S | 27 | rs773302755 | 0.1504 | None | gnomAD-4.0.0 | 5.47608E-06 | |
17173 | 27 | Y/C | 29 | rs748656984 | 0.4701 | None | gnomAD-2.1.1 | 8.05E-06 | |
17173 | 27 | Y/C | 29 | rs748656984 | 0.4701 | None | gnomAD-3.1.2 | 6.58E-06 | |
17173 | 27 | Y/C | 29 | rs748656984 | 0.4701 | None | gnomAD-4.0.0 | 7.69422E-06 | |
17173 | 27 | Y/H | 29 | None | 0.4701 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17175 | 29 | G/E | 31 | rs961480775 | 0.1974 | None | gnomAD-4.0.0 | 2.05348E-06 | |
17176 | 30 | G/A | 32 | rs768961892 | 0.5092 | None | gnomAD-2.1.1 | 2.37524E-04 | |
17176 | 30 | G/A | 32 | rs768961892 | 0.5092 | None | gnomAD-3.1.2 | 6.58E-06 | |
17176 | 30 | G/A | 32 | rs768961892 | 0.5092 | None | gnomAD-4.0.0 | 4.03007E-05 | |
17177 | 31 | S/N | 33 | rs745512911 | 0.2763 | None | gnomAD-2.1.1 | 7.15E-06 | |
17177 | 31 | S/N | 33 | rs745512911 | 0.2763 | None | gnomAD-3.1.2 | 1.32E-05 | |
17177 | 31 | S/N | 33 | rs745512911 | 0.2763 | None | gnomAD-4.0.0 | 1.17801E-05 | |
17181 | 35 | G/D | 37 | None | 0.1149 | None | gnomAD-4.0.0 | 3.60097E-06 | |
17183 | 37 | I/T | 39 | rs757000767 | 0.1846 | None | gnomAD-2.1.1 | 4.02E-06 | |
17183 | 37 | I/T | 39 | rs757000767 | 0.1846 | None | gnomAD-3.1.2 | 1.32E-05 | |
17183 | 37 | I/T | 39 | rs757000767 | 0.1846 | None | gnomAD-4.0.0 | 3.8477E-06 | |
17184 | 38 | I/M | 40 | rs767319592 | 0.0642 | None | gnomAD-2.1.1 | 3.62E-05 | |
17184 | 38 | I/M | 40 | rs767319592 | 0.0642 | None | gnomAD-3.1.2 | 6.58E-06 | |
17184 | 38 | I/M | 40 | rs767319592 | 0.0642 | None | gnomAD-4.0.0 | 8.05965E-06 | |
17184 | 38 | I/T | 40 | rs752646731 | 0.0642 | None | gnomAD-2.1.1 | 5.23E-05 | |
17184 | 38 | I/T | 40 | rs752646731 | 0.0642 | None | gnomAD-3.1.2 | 1.32E-05 | |
17184 | 38 | I/T | 40 | rs752646731 | 0.0642 | None | gnomAD-4.0.0 | 5.51798E-05 | |
17184 | 38 | I/V | 40 | rs777442915 | 0.0642 | None | gnomAD-4.0.0 | 4.77791E-06 | |
17185 | 39 | E/Q | 41 | None | 0.1274 | None | gnomAD-4.0.0 | 1.59266E-06 | |
17187 | 41 | I/M | 43 | None | 0.0979 | None | gnomAD-4.0.0 | 2.40064E-06 | |
17187 | 41 | I/T | 43 | None | 0.0979 | None | gnomAD-4.0.0 | 1.36893E-06 | |
17188 | 42 | A/S | 44 | rs1324072715 | 0.1632 | None | gnomAD-2.1.1 | 4.02E-06 | |
17188 | 42 | A/S | 44 | rs1324072715 | 0.1632 | None | gnomAD-4.0.0 | 1.59263E-06 | |
17188 | 42 | A/T | 44 | None | 0.1632 | None | gnomAD-4.0.0 | 1.59263E-06 | |
17189 | 43 | K/E | 50 | rs727503618 | 0.5908 | None | gnomAD-2.1.1 | 8.05E-06 | |
17190 | 44 | G/D | 54 | None | 0.6759 | None | gnomAD-4.0.0 | 6.84462E-07 | |
17190 | 44 | G/V | 54 | None | 0.6759 | None | gnomAD-4.0.0 | 1.36892E-06 | |
17191 | 45 | E/K | 60 | None | 0.4350 | None | gnomAD-4.0.0 | 2.40064E-06 | |
17193 | 47 | R/S | 64 | rs759285989 | 0.8708 | None | gnomAD-2.1.1 | 1.61E-05 | |
17193 | 47 | R/S | 64 | rs759285989 | 0.8708 | None | gnomAD-3.1.2 | 6.58E-06 | |
17193 | 47 | R/S | 64 | rs759285989 | 0.8708 | None | gnomAD-4.0.0 | 9.92025E-06 | |
17195 | 49 | K/N | 66 | None | 0.4904 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17196 | 50 | R/I | 67 | rs751398376 | 0.3154 | None | gnomAD-2.1.1 | 1.21E-05 | |
17196 | 50 | R/I | 67 | rs751398376 | 0.3154 | None | gnomAD-3.1.2 | 6.58E-06 | |
17196 | 50 | R/I | 67 | rs751398376 | 0.3154 | None | gnomAD-4.0.0 | 5.58011E-06 | |
17196 | 50 | R/K | 67 | None | 0.3154 | None | gnomAD-4.0.0 | 6.8446E-07 | |
17196 | 50 | R/T | 67 | rs751398376 | 0.3154 | None | gnomAD-2.1.1 | 4.02E-06 | |
17196 | 50 | R/T | 67 | rs751398376 | 0.3154 | None | gnomAD-4.0.0 | 6.8446E-07 | |
17197 | 51 | C/Y | 68 | None | 0.1835 | None | gnomAD-4.0.0 | 1.36894E-06 | |
17198 | 52 | N/S | 69 | rs766535854 | 0.1111 | None | gnomAD-2.1.1 | 4.02E-06 | |
17198 | 52 | N/S | 69 | rs766535854 | 0.1111 | None | gnomAD-3.1.2 | 1.32E-05 | |
17198 | 52 | N/S | 69 | rs766535854 | 0.1111 | None | gnomAD-4.0.0 | 5.58023E-06 | |
17198 | 52 | N/T | 69 | None | 0.1111 | None | gnomAD-4.0.0 | 6.84471E-07 | |
17200 | 54 | H/Y | 72 | rs2055879782 | 0.7630 | None | gnomAD-3.1.2 | 6.59E-06 | |
17200 | 54 | H/Y | 72 | rs2055879782 | 0.7630 | None | gnomAD-4.0.0 | 2.03065E-06 | |
17202 | 56 | V/G | 77 | None | 0.1195 | None | gnomAD-4.0.0 | 1.36893E-06 | |
17203 | 57 | P/S | 83 | rs1559763601 | 0.6099 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17204 | 58 | I/V | 88 | rs1383602491 | 0.5089 | None | gnomAD-3.1.2 | 6.59E-06 | |
17204 | 58 | I/V | 88 | rs1383602491 | 0.5089 | None | gnomAD-4.0.0 | 1.8601E-06 | |
17206 | 60 | T/N | 90 | rs1305177155 | 0.3753 | None | gnomAD-2.1.1 | 2.01E-05 | |
17206 | 60 | T/N | 90 | rs1305177155 | 0.3753 | None | gnomAD-3.1.2 | 6.59E-06 | |
17206 | 60 | T/N | 90 | rs1305177155 | 0.3753 | None | gnomAD-4.0.0 | 7.44109E-06 | |
17208 | 62 | T/I | 92 | None | 0.3209 | None | gnomAD-4.0.0 | 2.73798E-06 | |
17208 | 62 | T/R | 92 | None | 0.3209 | None | gnomAD-4.0.0 | 6.84495E-07 | |
17209 | 63 | A/T | 93 | rs1292930837 | 0.1135 | None | gnomAD-3.1.2 | 1.32E-05 | |
17209 | 63 | A/T | 93 | rs1292930837 | 0.1135 | None | gnomAD-4.0.0 | 6.82061E-06 | |
17211 | 65 | G/E | 96 | rs1447802224 | 0.4665 | None | gnomAD-4.0.0 | 1.36901E-06 | |
17211 | 65 | G/V | 96 | rs1447802224 | 0.4665 | None | gnomAD-2.1.1 | 3.19E-05 | |
17211 | 65 | G/V | 96 | rs1447802224 | 0.4665 | None | gnomAD-3.1.2 | 6.59E-06 | |
17211 | 65 | G/V | 96 | rs1447802224 | 0.4665 | None | gnomAD-4.0.0 | 4.34036E-06 | |
17212 | 66 | L/F | 97 | rs1473716049 | 0.1391 | None | gnomAD-2.1.1 | 4.02E-06 | |
17212 | 66 | L/F | 97 | rs1473716049 | 0.1391 | None | gnomAD-4.0.0 | 4.77864E-06 | |
17212 | 66 | L/V | 97 | rs1473716049 | 0.1391 | None | gnomAD-2.1.1 | 4.02E-06 | |
17212 | 66 | L/V | 97 | rs1473716049 | 0.1391 | None | gnomAD-4.0.0 | 1.59288E-06 | |
17213 | 67 | E/Q | 98 | None | 0.4234 | None | gnomAD-4.0.0 | 8.21406E-06 | |
17214 | 68 | E/D | 99 | rs372443762 | 0.7362 | None | gnomAD-2.1.1 | 2.86E-05 | |
17214 | 68 | E/D | 99 | rs372443762 | 0.7362 | None | gnomAD-3.1.2 | 7.24E-05 | |
17214 | 68 | E/D | 99 | rs372443762 | 0.7362 | None | gnomAD-4.0.0 | 6.8453E-07 | |
17214 | 68 | E/K | 99 | rs769926361 | 0.7362 | None | gnomAD-4.0.0 | 3.42257E-06 | |
17215 | 69 | G/R | 100 | None | 0.2985 | None | gnomAD-4.0.0 | 6.84524E-07 | |
17215 | 69 | G/W | 100 | rs777054402 | 0.2985 | None | gnomAD-2.1.1 | 8.04E-06 | |
17215 | 69 | G/W | 100 | rs777054402 | 0.2985 | None | gnomAD-3.1.2 | 6.58E-06 | |
17215 | 69 | G/W | 100 | rs777054402 | 0.2985 | None | gnomAD-4.0.0 | 7.44078E-06 | |
17217 | 71 | E/A | 103 | None | 0.2349 | None | gnomAD-4.0.0 | 6.84539E-07 | |
17217 | 71 | E/D | 103 | None | 0.2349 | None | gnomAD-4.0.0 | 1.36909E-06 | |
17217 | 71 | E/G | 103 | None | 0.2349 | None | gnomAD-4.0.0 | 6.84539E-07 | |
17217 | 71 | E/K | 103 | rs1060500503 | 0.2349 | None | gnomAD-2.1.1 | 8.05E-06 | |
17217 | 71 | E/K | 103 | rs1060500503 | 0.2349 | None | gnomAD-4.0.0 | 3.42267E-06 | |
17220 | 74 | F/I | 106 | rs747296177 | 0.1240 | None | gnomAD-2.1.1 | 4.03E-06 | |
17220 | 74 | F/I | 106 | rs747296177 | 0.1240 | None | gnomAD-4.0.0 | 1.59315E-06 | |
17221 | 75 | R/C | 107 | rs780490612 | 0.1260 | None | gnomAD-2.1.1 | 1.21E-05 | |
17221 | 75 | R/C | 107 | rs780490612 | 0.1260 | None | gnomAD-3.1.2 | 6.59E-06 | |
17221 | 75 | R/C | 107 | rs780490612 | 0.1260 | None | gnomAD-4.0.0 | 6.20144E-06 | |
17221 | 75 | R/G | 107 | None | 0.1260 | None | gnomAD-4.0.0 | 6.8461E-07 | |
17221 | 75 | R/H | 107 | rs770653436 | 0.1260 | None | gnomAD-2.1.1 | 7.15E-05 | |
17221 | 75 | R/H | 107 | rs770653436 | 0.1260 | None | gnomAD-3.1.2 | 3.95E-05 | |
17221 | 75 | R/H | 107 | rs770653436 | 0.1260 | None | gnomAD-4.0.0 | 3.28671E-05 | |
17222 | 76 | V/E | 108 | None | 0.0726 | None | gnomAD-4.0.0 | 3.18682E-06 | |
17222 | 76 | V/G | 108 | rs1014056487 | 0.0726 | None | gnomAD-2.1.1 | 3.19E-05 | |
17222 | 76 | V/G | 108 | rs1014056487 | 0.0726 | None | gnomAD-3.1.2 | 6.58E-06 | |
17222 | 76 | V/G | 108 | rs1014056487 | 0.0726 | None | gnomAD-4.0.0 | 2.56573E-06 | |
17222 | 76 | V/M | 108 | None | 0.0726 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17223 | 77 | R/Q | 109 | rs142395261 | 0.1678 | None | gnomAD-2.1.1 | 2.5E-05 | |
17223 | 77 | R/Q | 109 | rs142395261 | 0.1678 | None | gnomAD-3.1.2 | 9.21E-05 | |
17223 | 77 | R/Q | 109 | rs142395261 | 0.1678 | None | 1000 genomes | 1.99681E-04 | |
17223 | 77 | R/Q | 109 | rs142395261 | 0.1678 | None | gnomAD-4.0.0 | 1.79828E-05 | |
17224 | 78 | A/G | 110 | rs2055864896 | 0.0833 | None | gnomAD-3.1.2 | 6.58E-06 | |
17224 | 78 | A/G | 110 | rs2055864896 | 0.0833 | None | gnomAD-4.0.0 | 2.56604E-06 | |
17225 | 79 | E/D | 111 | None | 0.2752 | None | gnomAD-4.0.0 | 6.84727E-07 | |
17225 | 79 | E/Q | 111 | rs2154198655 | 0.2752 | None | gnomAD-3.1.2 | 6.58E-06 | |
17225 | 79 | E/Q | 111 | rs2154198655 | 0.2752 | None | gnomAD-4.0.0 | 6.57704E-06 | |
17226 | 80 | N/D | 112 | rs780947951 | 0.1051 | None | gnomAD-2.1.1 | 4.03E-06 | |
17226 | 80 | N/D | 112 | rs780947951 | 0.1051 | None | gnomAD-4.0.0 | 1.59391E-06 | |
17227 | 81 | A/T | 113 | rs904223315 | 0.6586 | None | gnomAD-2.1.1 | 1.61E-05 | |
17227 | 81 | A/T | 113 | rs904223315 | 0.6586 | None | gnomAD-4.0.0 | 1.09575E-05 | |
17228 | 82 | A/T | 114 | rs369150143 | 0.4653 | None | gnomAD-2.1.1 | 1.32616E-04 | |
17228 | 82 | A/T | 114 | rs369150143 | 0.4653 | None | gnomAD-3.1.2 | 3.95E-05 | |
17228 | 82 | A/T | 114 | rs369150143 | 0.4653 | None | 1000 genomes | 1.99681E-04 | |
17228 | 82 | A/T | 114 | rs369150143 | 0.4653 | None | gnomAD-4.0.0 | 4.52814E-05 | |
17228 | 82 | A/V | 114 | rs370644359 | 0.4653 | None | gnomAD-2.1.1 | 7.88E-05 | |
17228 | 82 | A/V | 114 | rs370644359 | 0.4653 | None | gnomAD-3.1.2 | 1.58003E-04 | |
17228 | 82 | A/V | 114 | rs370644359 | 0.4653 | None | gnomAD-4.0.0 | 1.0918E-04 | |
17229 | 83 | G/D | 115 | None | 0.2012 | None | gnomAD-4.0.0 | 6.85114E-07 | |
17229 | 83 | G/V | 115 | rs1471919203 | 0.2012 | None | gnomAD-2.1.1 | 4.04E-06 | |
17229 | 83 | G/V | 115 | rs1471919203 | 0.2012 | None | gnomAD-4.0.0 | 2.05534E-06 | |
17230 | 84 | I/V | 117 | None | 0.4580 | None | gnomAD-4.0.0 | 1.59666E-06 | |
17231 | 85 | S/N | 118 | rs944587802 | 0.0794 | None | gnomAD-3.1.2 | 6.58E-06 | |
17231 | 85 | S/N | 118 | rs944587802 | 0.0794 | None | gnomAD-4.0.0 | 4.06015E-06 | |
17231 | 85 | S/T | 118 | rs944587802 | 0.0794 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17232 | 86 | E/K | 119 | rs765280689 | 0.5350 | None | gnomAD-2.1.1 | 4.05E-06 | |
17232 | 86 | E/K | 119 | rs765280689 | 0.5350 | None | gnomAD-4.0.0 | 6.85872E-07 | |
17232 | 86 | E/V | 119 | None | 0.5350 | None | gnomAD-4.0.0 | 1.59989E-06 | |
17233 | 87 | P/L | 120 | rs776803516 | 0.2360 | None | gnomAD-2.1.1 | 2.43E-05 | |
17233 | 87 | P/L | 120 | rs776803516 | 0.2360 | None | gnomAD-4.0.0 | 3.431E-06 | |
17233 | 87 | P/S | 120 | rs761840475 | 0.2360 | None | gnomAD-2.1.1 | 4.05E-06 | |
17233 | 87 | P/S | 120 | rs761840475 | 0.2360 | None | gnomAD-3.1.2 | 6.58E-06 | |
17233 | 87 | P/S | 120 | rs761840475 | 0.2360 | None | gnomAD-4.0.0 | 1.86372E-06 | |
17233 | 87 | P/T | 120 | rs761840475 | 0.2360 | None | gnomAD-2.1.1 | 8.11E-06 | |
17233 | 87 | P/T | 120 | rs761840475 | 0.2360 | None | gnomAD-4.0.0 | 8.91762E-06 | |
17234 | 88 | S/A | 121 | None | 0.1349 | None | gnomAD-4.0.0 | 3.20818E-06 | |
17234 | 88 | S/Y | 121 | rs768996750 | 0.1349 | None | gnomAD-2.1.1 | 4.06E-06 | |
17235 | 89 | R/P | 122 | None | 0.9658 | None | gnomAD-4.0.0 | 5.49811E-06 | |
17235 | 89 | R/Q | 122 | rs573695008 | 0.9658 | None | gnomAD-2.1.1 | 1.52042E-04 | |
17235 | 89 | R/Q | 122 | rs573695008 | 0.9658 | None | gnomAD-3.1.2 | 6.59E-05 | |
17235 | 89 | R/Q | 122 | rs573695008 | 0.9658 | None | 1000 genomes | 1.99681E-04 | |
17235 | 89 | R/Q | 122 | rs573695008 | 0.9658 | None | gnomAD-4.0.0 | 4.54258E-05 | |
17235 | 89 | R/W | 122 | rs373860372 | 0.9658 | None | gnomAD-2.1.1 | 1.22E-05 | |
17235 | 89 | R/W | 122 | rs373860372 | 0.9658 | None | gnomAD-3.1.2 | 6.58E-06 | |
17235 | 89 | R/W | 122 | rs373860372 | 0.9658 | None | gnomAD-4.0.0 | 9.9522E-06 | |
17236 | 90 | A/P | 123 | rs1208923941 | 0.2679 | None | gnomAD-2.1.1 | 4.09E-06 | |
17236 | 90 | A/P | 123 | rs1208923941 | 0.2679 | None | gnomAD-3.1.2 | 6.58E-06 | |
17236 | 90 | A/P | 123 | rs1208923941 | 0.2679 | None | gnomAD-4.0.0 | 3.73511E-06 | |
17236 | 90 | A/T | 123 | None | 0.2679 | None | gnomAD-4.0.0 | 2.06259E-06 | |
17236 | 90 | A/V | 123 | rs1041202552 | 0.2679 | None | gnomAD-4.0.0 | 4.83036E-06 | |
17237 | 91 | T/A | 124 | rs1353786897 | 0.1491 | None | gnomAD-2.1.1 | 4.11E-06 | |
17237 | 91 | T/I | 124 | rs556967635 | 0.1491 | None | gnomAD-2.1.1 | 9.45E-05 | |
17237 | 91 | T/I | 124 | rs556967635 | 0.1491 | None | gnomAD-3.1.2 | 1.97E-05 | |
17237 | 91 | T/I | 124 | rs556967635 | 0.1491 | None | 1000 genomes | 1.99681E-04 | |
17237 | 91 | T/I | 124 | rs556967635 | 0.1491 | None | gnomAD-4.0.0 | 3.9276E-05 | |
17237 | 91 | T/P | 124 | None | 0.1491 | None | gnomAD-4.0.0 | 2.40064E-06 | |
17238 | 92 | P/A | 125 | rs773035917 | 0.6261 | None | gnomAD-2.1.1 | 4.12E-06 | |
17238 | 92 | P/A | 125 | rs773035917 | 0.6261 | None | gnomAD-4.0.0 | 3.44476E-06 | |
17238 | 92 | P/S | 125 | rs773035917 | 0.6261 | None | gnomAD-2.1.1 | 6.2E-05 | |
17238 | 92 | P/S | 125 | rs773035917 | 0.6261 | None | gnomAD-3.1.2 | 1.11892E-04 | |
17238 | 92 | P/S | 125 | rs773035917 | 0.6261 | None | gnomAD-4.0.0 | 5.11409E-05 | |
17238 | 92 | P/T | 125 | None | 0.6261 | None | gnomAD-2.1.1 | 4.12E-06 | |
17240 | 94 | T/I | 127 | rs1295961462 | 0.2936 | None | gnomAD-2.1.1 | 4.14E-06 | |
17240 | 94 | T/I | 127 | rs1295961462 | 0.2936 | None | gnomAD-4.0.0 | 4.14133E-06 | |
17241 | 95 | K/R | 129 | None | 0.4357 | None | gnomAD-4.0.0 | 6.92065E-07 | |
17242 | 96 | A/D | 130 | rs769598894 | 0.1041 | None | gnomAD-2.1.1 | 4.2E-06 | |
17242 | 96 | A/D | 130 | rs769598894 | 0.1041 | None | gnomAD-4.0.0 | 3.27304E-06 | |
17244 | 98 | D/E | 132 | None | 1.0117 | None | gnomAD-4.0.0 | 6.00161E-06 |