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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
3147 | 1 | V/I | 1 | rs150283731 | 0.3358 | None | gnomAD-2.1.1 | 3.98E-06 | |
3148 | 2 | R/C | 2 | rs372196051 | 0.8145 | None | gnomAD-2.1.1 | 1.77E-05 | |
3148 | 2 | R/C | 2 | rs372196051 | 0.8145 | None | gnomAD-3.1.2 | 2.63E-05 | |
3148 | 2 | R/C | 2 | rs372196051 | 0.8145 | None | gnomAD-4.0.0 | 3.65561E-05 | |
3148 | 2 | R/H | 2 | rs368786036 | 0.8145 | None | gnomAD-2.1.1 | 2.79E-05 | |
3148 | 2 | R/H | 2 | rs368786036 | 0.8145 | None | gnomAD-3.1.2 | 5.26E-05 | |
3148 | 2 | R/H | 2 | rs368786036 | 0.8145 | None | 1000 genomes | 1.99681E-04 | |
3148 | 2 | R/H | 2 | rs368786036 | 0.8145 | None | gnomAD-4.0.0 | 5.6378E-05 | |
3148 | 2 | R/L | 2 | rs368786036 | 0.8145 | None | gnomAD-2.1.1 | 3.98E-06 | |
3148 | 2 | R/L | 2 | rs368786036 | 0.8145 | None | gnomAD-4.0.0 | 8.20898E-06 | |
3150 | 4 | R/G | 4 | rs146572907 | 0.5906 | None | gnomAD-2.1.1 | 3.98E-06 | |
3150 | 4 | R/G | 4 | rs146572907 | 0.5906 | None | gnomAD-4.0.0 | 6.84087E-07 | |
3150 | 4 | R/L | 4 | None | 0.5906 | None | gnomAD-4.0.0 | 6.84079E-07 | |
3150 | 4 | R/Q | 4 | rs141093658 | 0.5906 | None | gnomAD-2.1.1 | 2.83E-05 | |
3150 | 4 | R/Q | 4 | rs141093658 | 0.5906 | None | gnomAD-3.1.2 | 1.31E-05 | |
3150 | 4 | R/Q | 4 | rs141093658 | 0.5906 | None | gnomAD-4.0.0 | 2.47831E-05 | |
3151 | 5 | S/N | 5 | rs749077031 | 0.2564 | None | gnomAD-2.1.1 | 7.97E-06 | |
3151 | 5 | S/N | 5 | rs749077031 | 0.2564 | None | gnomAD-4.0.0 | 2.05225E-06 | |
3151 | 5 | S/R | 5 | rs879041803 | 0.2564 | None | gnomAD-4.0.0 | 1.59056E-06 | |
3152 | 6 | I/M | 7 | None | 0.4215 | None | gnomAD-4.0.0 | 1.59061E-06 | |
3152 | 6 | I/T | 7 | rs1228152341 | 0.4215 | None | gnomAD-2.1.1 | 3.18E-05 | |
3152 | 6 | I/T | 7 | rs1228152341 | 0.4215 | None | gnomAD-3.1.2 | 6.57E-06 | |
3152 | 6 | I/T | 7 | rs1228152341 | 0.4215 | None | gnomAD-4.0.0 | 6.57004E-06 | |
3154 | 8 | K/N | 9 | None | 0.9265 | None | gnomAD-4.0.0 | 6.84118E-07 | |
3154 | 8 | K/R | 9 | rs4893853 | 0.9265 | None | gnomAD-2.1.1 | 6.74519E-02 | |
3154 | 8 | K/R | 9 | rs4893853 | 0.9265 | None | gnomAD-3.1.2 | 5.35297E-02 | |
3154 | 8 | K/R | 9 | rs4893853 | 0.9265 | None | 1000 genomes | 8.60623E-02 | |
3154 | 8 | K/R | 9 | rs4893853 | 0.9265 | None | gnomAD-4.0.0 | 3.99737E-02 | |
3155 | 9 | E/Q | 11 | rs1458652114 | 0.5104 | None | gnomAD-3.1.2 | 6.57E-06 | |
3155 | 9 | E/Q | 11 | rs1458652114 | 0.5104 | None | gnomAD-4.0.0 | 2.02981E-06 | |
3156 | 10 | V/F | 13 | rs1403999393 | 0.2357 | None | gnomAD-2.1.1 | 3.99E-06 | |
3156 | 10 | V/F | 13 | rs1403999393 | 0.2357 | None | gnomAD-3.1.2 | 6.57E-06 | |
3156 | 10 | V/F | 13 | rs1403999393 | 0.2357 | None | gnomAD-4.0.0 | 6.57229E-06 | |
3156 | 10 | V/I | 13 | None | 0.2357 | None | gnomAD-4.0.0 | 1.36826E-06 | |
3157 | 11 | Q/R | 14 | None | 0.6556 | None | gnomAD-4.0.0 | 2.05251E-06 | |
3158 | 12 | V/F | 16 | rs748114137 | 0.1433 | None | gnomAD-2.1.1 | 1.2E-05 | |
3158 | 12 | V/F | 16 | rs748114137 | 0.1433 | None | gnomAD-3.1.2 | 2.63E-05 | |
3158 | 12 | V/F | 16 | rs748114137 | 0.1433 | None | gnomAD-4.0.0 | 1.55181E-05 | |
3158 | 12 | V/L | 16 | None | 0.1433 | None | gnomAD-4.0.0 | 6.8535E-07 | |
3160 | 14 | E/D | 23 | None | 0.3182 | None | gnomAD-4.0.0 | 6.84907E-07 | |
3160 | 14 | E/G | 23 | rs1234344822 | 0.3182 | None | gnomAD-3.1.2 | 6.57E-06 | |
3160 | 14 | E/G | 23 | rs1234344822 | 0.3182 | None | gnomAD-4.0.0 | 6.57376E-06 | |
3161 | 15 | K/E | 24 | rs113021611 | 0.6558 | None | gnomAD-4.0.0 | 1.36959E-06 | |
3162 | 16 | Q/K | 25 | None | 0.3664 | None | gnomAD-4.0.0 | 6.00442E-06 | |
3162 | 16 | Q/R | 25 | rs727503681 | 0.3664 | None | gnomAD-2.1.1 | 3.03519E-04 | |
3162 | 16 | Q/R | 25 | rs727503681 | 0.3664 | None | gnomAD-3.1.2 | 5.26E-05 | |
3162 | 16 | Q/R | 25 | rs727503681 | 0.3664 | None | gnomAD-4.0.0 | 8.7387E-05 | |
3163 | 17 | R/C | 26 | rs140664731 | 0.4342 | None | gnomAD-2.1.1 | 1.31282E-04 | |
3163 | 17 | R/C | 26 | rs140664731 | 0.4342 | None | gnomAD-3.1.2 | 2.82668E-04 | |
3163 | 17 | R/C | 26 | rs140664731 | 0.4342 | None | 1000 genomes | 5.99042E-04 | |
3163 | 17 | R/C | 26 | rs140664731 | 0.4342 | None | gnomAD-4.0.0 | 5.94957E-05 | |
3163 | 17 | R/H | 26 | rs149755500 | 0.4342 | None | gnomAD-2.1.1 | 1.9159E-04 | |
3163 | 17 | R/H | 26 | rs149755500 | 0.4342 | None | gnomAD-3.1.2 | 3.35147E-04 | |
3163 | 17 | R/H | 26 | rs149755500 | 0.4342 | None | gnomAD-4.0.0 | 3.39749E-04 | |
3163 | 17 | R/S | 26 | rs140664731 | 0.4342 | None | gnomAD-2.1.1 | 3.99E-06 | |
3164 | 18 | A/D | 28 | None | 0.1390 | None | gnomAD-4.0.0 | 1.20056E-06 | |
3165 | 19 | V/G | 29 | None | 0.3186 | None | gnomAD-4.0.0 | 1.20043E-06 | |
3165 | 19 | V/I | 29 | None | 0.3186 | None | gnomAD-4.0.0 | 6.8416E-07 | |
3165 | 19 | V/L | 29 | None | 0.3186 | None | gnomAD-4.0.0 | 1.36832E-06 | |
3168 | 22 | F/S | 33 | None | 0.0833 | None | gnomAD-4.0.0 | 3.18147E-06 | |
3168 | 22 | F/V | 33 | rs746038856 | 0.0833 | None | gnomAD-2.1.1 | 1.2E-05 | |
3168 | 22 | F/V | 33 | rs746038856 | 0.0833 | None | gnomAD-4.0.0 | 3.18149E-06 | |
3170 | 24 | V/A | 35 | rs779339626 | 0.1239 | None | gnomAD-2.1.1 | 2.48E-05 | |
3170 | 24 | V/A | 35 | rs779339626 | 0.1239 | None | gnomAD-3.1.2 | 3.94E-05 | |
3170 | 24 | V/A | 35 | rs779339626 | 0.1239 | None | gnomAD-4.0.0 | 6.13403E-05 | |
3170 | 24 | V/L | 35 | None | 0.1239 | None | gnomAD-4.0.0 | 1.20034E-06 | |
3171 | 25 | N/I | 38 | rs139992576 | 0.3813 | None | gnomAD-2.1.1 | 1.2E-05 | |
3171 | 25 | N/I | 38 | rs139992576 | 0.3813 | None | gnomAD-3.1.2 | 6.57E-06 | |
3171 | 25 | N/I | 38 | rs139992576 | 0.3813 | None | gnomAD-4.0.0 | 3.71727E-06 | |
3171 | 25 | N/K | 38 | None | 0.3813 | None | gnomAD-4.0.0 | 6.84104E-07 | |
3171 | 25 | N/S | 38 | rs139992576 | 0.3813 | None | gnomAD-2.1.1 | 6.78E-05 | |
3171 | 25 | N/S | 38 | rs139992576 | 0.3813 | None | gnomAD-3.1.2 | 5.91E-05 | |
3171 | 25 | N/S | 38 | rs139992576 | 0.3813 | None | 1000 genomes | 1.99681E-04 | |
3171 | 25 | N/S | 38 | rs139992576 | 0.3813 | None | gnomAD-4.0.0 | 8.73559E-05 | |
3172 | 26 | E/K | 41 | rs754529831 | 0.5676 | None | gnomAD-2.1.1 | 7.98E-06 | |
3172 | 26 | E/K | 41 | rs754529831 | 0.5676 | None | gnomAD-4.0.0 | 4.78877E-06 | |
3173 | 27 | D/E | 42 | rs151129843 | 0.4183 | None | gnomAD-4.0.0 | 5.47288E-06 | |
3174 | 28 | D/A | 43 | None | 1.1331 | None | gnomAD-4.0.0 | 1.59067E-06 | |
3174 | 28 | D/N | 43 | rs984157404 | 1.1331 | None | gnomAD-2.1.1 | 1.06E-05 | |
3174 | 28 | D/N | 43 | rs984157404 | 1.1331 | None | gnomAD-3.1.2 | 1.31E-05 | |
3174 | 28 | D/N | 43 | rs984157404 | 1.1331 | None | gnomAD-4.0.0 | 5.57641E-06 | |
3174 | 28 | D/Y | 43 | None | 1.1331 | None | gnomAD-4.0.0 | 6.84103E-07 | |
3175 | 29 | V/I | 44 | rs762667276 | 0.2876 | None | gnomAD-2.1.1 | 1.03672E-04 | |
3175 | 29 | V/I | 44 | rs762667276 | 0.2876 | None | gnomAD-3.1.2 | 6.57E-06 | |
3175 | 29 | V/I | 44 | rs762667276 | 0.2876 | None | gnomAD-4.0.0 | 4.70889E-05 | |
3175 | 29 | V/L | 44 | rs762667276 | 0.2876 | None | gnomAD-3.1.2 | 6.57E-06 | |
3175 | 29 | V/L | 44 | rs762667276 | 0.2876 | None | gnomAD-4.0.0 | 1.23918E-06 | |
3176 | 30 | D/Y | 45 | None | 0.9147 | None | gnomAD-4.0.0 | 1.59065E-06 | |
3177 | 31 | A/D | 46 | None | 0.1475 | None | gnomAD-4.0.0 | 1.59067E-06 | |
3177 | 31 | A/T | 46 | None | 0.1475 | None | gnomAD-4.0.0 | 2.40068E-06 | |
3178 | 32 | H/L | 47 | rs1334781459 | 0.4901 | None | gnomAD-2.1.1 | 3.99E-06 | |
3178 | 32 | H/L | 47 | rs1334781459 | 0.4901 | None | gnomAD-4.0.0 | 4.78863E-06 | |
3178 | 32 | H/P | 47 | None | 0.4901 | None | gnomAD-4.0.0 | 6.8409E-07 | |
3178 | 32 | H/R | 47 | rs1334781459 | 0.4901 | None | gnomAD-2.1.1 | 3.18E-05 | |
3178 | 32 | H/R | 47 | rs1334781459 | 0.4901 | None | gnomAD-3.1.2 | 6.57E-06 | |
3178 | 32 | H/R | 47 | rs1334781459 | 0.4901 | None | gnomAD-4.0.0 | 1.23919E-06 | |
3179 | 33 | W/C | 48 | rs1415326228 | 0.1000 | None | gnomAD-3.1.2 | 6.57E-06 | |
3179 | 33 | W/C | 48 | rs1415326228 | 0.1000 | None | gnomAD-4.0.0 | 2.47842E-06 | |
3179 | 33 | W/L | 48 | rs1561183313 | 0.1000 | None | gnomAD-4.0.0 | 3.18126E-06 | |
3183 | 37 | G/D | 52 | rs772678867 | 0.4144 | None | gnomAD-2.1.1 | 3.98E-06 | |
3183 | 37 | G/D | 52 | rs772678867 | 0.4144 | None | gnomAD-4.0.0 | 4.10453E-06 | |
3185 | 39 | E/K | 56 | None | 0.3537 | None | gnomAD-4.0.0 | 1.5906E-06 | |
3187 | 41 | N/S | 59 | None | 0.4270 | None | gnomAD-4.0.0 | 1.20033E-06 | |
3188 | 42 | F/S | 70 | rs776753598 | 0.2389 | None | gnomAD-2.1.1 | 3.98E-06 | |
3188 | 42 | F/S | 70 | rs776753598 | 0.2389 | None | gnomAD-4.0.0 | 1.59057E-06 | |
3188 | 42 | F/Y | 70 | rs776753598 | 0.2389 | None | gnomAD-2.1.1 | 3.98E-06 | |
3188 | 42 | F/Y | 70 | rs776753598 | 0.2389 | None | gnomAD-4.0.0 | 1.59057E-06 | |
3189 | 43 | Q/E | 71 | rs768694953 | 0.8787 | None | gnomAD-2.1.1 | 1.19E-05 | |
3189 | 43 | Q/E | 71 | rs768694953 | 0.8787 | None | gnomAD-4.0.0 | 4.78858E-06 | |
3189 | 43 | Q/K | 71 | None | 0.8787 | None | gnomAD-4.0.0 | 6.84083E-07 | |
3190 | 44 | V/F | 72 | rs370856494 | 0.6781 | None | gnomAD-2.1.1 | 7.97E-05 | |
3190 | 44 | V/F | 72 | rs370856494 | 0.6781 | None | gnomAD-3.1.2 | 3.29E-05 | |
3190 | 44 | V/F | 72 | rs370856494 | 0.6781 | None | 1000 genomes | 1.99681E-04 | |
3190 | 44 | V/F | 72 | rs370856494 | 0.6781 | None | gnomAD-4.0.0 | 3.53145E-05 | |
3191 | 45 | Q/E | 73 | rs33997263 | 0.3475 | None | gnomAD-2.1.1 | 8.5E-05 | |
3191 | 45 | Q/E | 73 | rs33997263 | 0.3475 | None | gnomAD-3.1.2 | 8.54E-05 | |
3191 | 45 | Q/E | 73 | rs33997263 | 0.3475 | None | 1000 genomes | 1.99681E-04 | |
3191 | 45 | Q/E | 73 | rs33997263 | 0.3475 | None | gnomAD-4.0.0 | 2.72603E-05 | |
3192 | 46 | E/K | 111 | rs868040631 | 0.9976 | None | gnomAD-4.0.0 | 1.59056E-06 | |
3193 | 47 | R/P | 115 | None | 0.2701 | None | gnomAD-4.0.0 | 6.84089E-07 | |
3193 | 47 | R/Q | 115 | rs1034071730 | 0.2701 | None | gnomAD-2.1.1 | 3.98E-06 | |
3193 | 47 | R/Q | 115 | rs1034071730 | 0.2701 | None | gnomAD-3.1.2 | 6.57E-06 | |
3193 | 47 | R/Q | 115 | rs1034071730 | 0.2701 | None | gnomAD-4.0.0 | 1.98273E-05 | |
3194 | 48 | H/D | 121 | rs1420659953 | 0.2357 | None | gnomAD-4.0.0 | 6.84082E-07 | |
3194 | 48 | H/R | 121 | None | 0.2357 | None | gnomAD-4.0.0 | 1.20034E-06 | |
3194 | 48 | H/Y | 121 | rs1420659953 | 0.2357 | None | gnomAD-4.0.0 | 1.36816E-06 | |
3195 | 49 | K/E | 122 | None | 0.6076 | None | gnomAD-4.0.0 | 1.59055E-06 | |
3196 | 50 | Y/C | 123 | rs1238502159 | 0.2206 | None | gnomAD-2.1.1 | 7.08E-06 | |
3196 | 50 | Y/C | 123 | rs1238502159 | 0.2206 | None | gnomAD-3.1.2 | 6.57E-06 | |
3196 | 50 | Y/C | 123 | rs1238502159 | 0.2206 | None | gnomAD-4.0.0 | 3.0979E-06 | |
3196 | 50 | Y/F | 123 | None | 0.2206 | None | gnomAD-4.0.0 | 6.84084E-07 | |
3196 | 50 | Y/H | 123 | None | 0.2206 | None | gnomAD-4.0.0 | 1.20037E-06 | |
3197 | 51 | V/A | 125 | None | 0.3020 | None | gnomAD-4.0.0 | 1.59056E-06 | |
3197 | 51 | V/I | 125 | rs1574506119 | 0.3020 | None | gnomAD-4.0.0 | 4.10461E-06 | |
3198 | 52 | V/M | 127 | rs1035580252 | 0.3206 | None | gnomAD-4.0.0 | 1.20035E-06 | |
3199 | 53 | E/G | 130 | rs2090451326 | 0.4467 | None | gnomAD-3.1.2 | 6.57E-06 | |
3199 | 53 | E/G | 130 | rs2090451326 | 0.4467 | None | gnomAD-4.0.0 | 6.56883E-06 | |
3201 | 55 | R/K | 134 | rs2090450408 | 0.3739 | None | gnomAD-4.0.0 | 1.59054E-06 | |
3201 | 55 | R/S | 134 | rs1349281831 | 0.3739 | None | gnomAD-2.1.1 | 3.98E-06 | |
3201 | 55 | R/S | 134 | rs1349281831 | 0.3739 | None | gnomAD-4.0.0 | 1.59055E-06 | |
3202 | 56 | I/M | 135 | None | 0.3389 | None | gnomAD-4.0.0 | 1.59055E-06 | |
3203 | 57 | H/Q | 136 | rs779624746 | 0.1354 | None | gnomAD-2.1.1 | 3.98E-06 | |
3203 | 57 | H/Q | 136 | rs779624746 | 0.1354 | None | gnomAD-4.0.0 | 6.84082E-07 | |
3203 | 57 | H/Y | 136 | rs753075855 | 0.1354 | None | gnomAD-2.1.1 | 3.98E-06 | |
3203 | 57 | H/Y | 136 | rs753075855 | 0.1354 | None | gnomAD-4.0.0 | 1.3682E-06 | |
3204 | 58 | R/G | 137 | None | 0.2557 | None | gnomAD-4.0.0 | 1.36819E-06 | |
3204 | 58 | R/L | 137 | None | 0.2557 | None | gnomAD-4.0.0 | 6.84086E-07 | |
3204 | 58 | R/Q | 137 | rs775137389 | 0.2557 | None | gnomAD-2.1.1 | 7.96E-06 | |
3204 | 58 | R/Q | 137 | rs775137389 | 0.2557 | None | gnomAD-3.1.2 | 6.57E-06 | |
3204 | 58 | R/Q | 137 | rs775137389 | 0.2557 | None | gnomAD-4.0.0 | 9.91338E-06 | |
3205 | 59 | M/I | 138 | None | 0.0599 | None | gnomAD-4.0.0 | 1.59053E-06 | |
3205 | 59 | M/T | 138 | rs1315204138 | 0.0599 | None | gnomAD-2.1.1 | 3.18E-05 | |
3205 | 59 | M/T | 138 | rs1315204138 | 0.0599 | None | gnomAD-3.1.2 | 6.57E-06 | |
3205 | 59 | M/T | 138 | rs1315204138 | 0.0599 | None | gnomAD-4.0.0 | 2.02982E-06 | |
3206 | 60 | F/L | 139 | rs1385591866 | 0.1968 | None | gnomAD-2.1.1 | 3.98E-06 | |
3206 | 60 | F/L | 139 | rs1385591866 | 0.1968 | None | gnomAD-4.0.0 | 3.18109E-06 | |
3207 | 61 | I/F | 140 | None | 0.0981 | None | gnomAD-4.0.0 | 1.59053E-06 | |
3207 | 61 | I/M | 140 | rs750160721 | 0.0981 | None | gnomAD-2.1.1 | 3.98E-06 | |
3207 | 61 | I/M | 140 | rs750160721 | 0.0981 | None | gnomAD-4.0.0 | 3.18107E-06 | |
3207 | 61 | I/T | 140 | None | 0.0981 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3208 | 62 | S/C | 141 | None | 0.4505 | None | gnomAD-4.0.0 | 1.59053E-06 | |
3209 | 63 | E/D | 143 | rs1022645763 | 0.7071 | None | gnomAD-3.1.2 | 1.31E-05 | |
3209 | 63 | E/D | 143 | rs1022645763 | 0.7071 | None | gnomAD-4.0.0 | 2.47827E-06 | |
3209 | 63 | E/G | 143 | None | 0.7071 | None | gnomAD-4.0.0 | 1.20034E-06 | |
3211 | 65 | R/I | 145 | rs761751013 | 0.4804 | None | gnomAD-2.1.1 | 1.19E-05 | |
3211 | 65 | R/I | 145 | rs761751013 | 0.4804 | None | gnomAD-4.0.0 | 3.181E-06 | |
3211 | 65 | R/S | 145 | rs753709846 | 0.4804 | None | gnomAD-2.1.1 | 1.19E-05 | |
3211 | 65 | R/S | 145 | rs753709846 | 0.4804 | None | gnomAD-4.0.0 | 3.18101E-06 | |
3211 | 65 | R/T | 145 | rs761751013 | 0.4804 | None | gnomAD-2.1.1 | 1.19E-05 | |
3211 | 65 | R/T | 145 | rs761751013 | 0.4804 | None | gnomAD-4.0.0 | 6.36199E-06 | |
3212 | 66 | Q/K | 146 | rs1226969863 | 0.4732 | None | gnomAD-2.1.1 | 3.18E-05 | |
3212 | 66 | Q/K | 146 | rs1226969863 | 0.4732 | None | gnomAD-3.1.2 | 6.57E-06 | |
3212 | 66 | Q/K | 146 | rs1226969863 | 0.4732 | None | gnomAD-4.0.0 | 6.57125E-06 | |
3213 | 67 | S/R | 148 | rs760666570 | 0.4572 | None | gnomAD-2.1.1 | 1.99E-05 | |
3213 | 67 | S/R | 148 | rs760666570 | 0.4572 | None | gnomAD-3.1.2 | 6.57E-06 | |
3213 | 67 | S/R | 148 | rs760666570 | 0.4572 | None | gnomAD-4.0.0 | 4.33729E-06 | |
3214 | 68 | D/E | 149 | rs368323634 | 0.1450 | None | gnomAD-2.1.1 | 7.96E-06 | |
3214 | 68 | D/E | 149 | rs368323634 | 0.1450 | None | gnomAD-3.1.2 | 1.31E-05 | |
3214 | 68 | D/E | 149 | rs368323634 | 0.1450 | None | gnomAD-4.0.0 | 1.05323E-05 | |
3214 | 68 | D/N | 149 | rs778326573 | 0.1450 | None | gnomAD-2.1.1 | 1.42E-05 | |
3214 | 68 | D/N | 149 | rs778326573 | 0.1450 | None | gnomAD-3.1.2 | 1.31E-05 | |
3214 | 68 | D/N | 149 | rs778326573 | 0.1450 | None | gnomAD-4.0.0 | 6.19574E-06 | |
3215 | 69 | A/P | 151 | None | 0.2155 | None | gnomAD-4.0.0 | 1.59051E-06 | |
3216 | 70 | G/A | 152 | rs573941323 | 0.2037 | None | gnomAD-2.1.1 | 3.98E-06 | |
3216 | 70 | G/A | 152 | rs573941323 | 0.2037 | None | gnomAD-3.1.2 | 1.31E-05 | |
3216 | 70 | G/A | 152 | rs573941323 | 0.2037 | None | 1000 genomes | 1.99681E-04 | |
3216 | 70 | G/A | 152 | rs573941323 | 0.2037 | None | gnomAD-4.0.0 | 4.05911E-06 | |
3217 | 71 | E/A | 153 | rs1014216424 | 0.4270 | None | gnomAD-2.1.1 | 7.08E-06 | |
3217 | 71 | E/A | 153 | rs1014216424 | 0.4270 | None | gnomAD-3.1.2 | 3.28E-05 | |
3217 | 71 | E/A | 153 | rs1014216424 | 0.4270 | None | gnomAD-4.0.0 | 4.95649E-06 | |
3217 | 71 | E/K | 153 | rs759502450 | 0.4270 | None | gnomAD-2.1.1 | 6.77E-05 | |
3217 | 71 | E/K | 153 | rs759502450 | 0.4270 | None | gnomAD-3.1.2 | 1.31E-05 | |
3217 | 71 | E/K | 153 | rs759502450 | 0.4270 | None | gnomAD-4.0.0 | 3.09788E-05 | |
3218 | 72 | Y/C | 154 | None | 0.1285 | None | gnomAD-4.0.0 | 6.8408E-07 | |
3218 | 72 | Y/S | 154 | None | 0.1285 | None | gnomAD-4.0.0 | 6.8408E-07 | |
3219 | 73 | T/N | 155 | rs1385851793 | 0.1819 | None | gnomAD-2.1.1 | 3.18E-05 | |
3219 | 73 | T/N | 155 | rs1385851793 | 0.1819 | None | gnomAD-3.1.2 | 1.97E-05 | |
3219 | 73 | T/N | 155 | rs1385851793 | 0.1819 | None | gnomAD-4.0.0 | 2.72623E-05 | |
3221 | 75 | V/A | 157 | rs1445925686 | 0.1975 | None | gnomAD-2.1.1 | 3.98E-06 | |
3221 | 75 | V/A | 157 | rs1445925686 | 0.1975 | None | gnomAD-4.0.0 | 1.59053E-06 | |
3222 | 76 | A/S | 158 | rs1157020180 | 0.1214 | None | gnomAD-4.0.0 | 6.84101E-07 | |
3222 | 76 | A/T | 158 | None | 0.1214 | None | gnomAD-4.0.0 | 1.3682E-06 | |
3223 | 77 | G/R | 164 | None | 0.4860 | None | gnomAD-4.0.0 | 6.84105E-07 | |
3224 | 78 | R/G | 165 | rs557221911 | 1.0201 | None | gnomAD-2.1.1 | 1.99E-05 | |
3224 | 78 | R/G | 165 | rs557221911 | 1.0201 | None | gnomAD-3.1.2 | 1.31E-05 | |
3224 | 78 | R/G | 165 | rs557221911 | 1.0201 | None | 1000 genomes | 1.99681E-04 | |
3224 | 78 | R/G | 165 | rs557221911 | 1.0201 | None | gnomAD-4.0.0 | 3.71726E-06 | |
3225 | 79 | N/K | 166 | rs1244268787 | 0.4923 | None | gnomAD-2.1.1 | 3.98E-06 | |
3225 | 79 | N/K | 166 | rs1244268787 | 0.4923 | None | gnomAD-4.0.0 | 6.84191E-07 | |
3225 | 79 | N/S | 166 | rs202011992 | 0.4923 | None | gnomAD-2.1.1 | 4.25E-05 | |
3225 | 79 | N/S | 166 | rs202011992 | 0.4923 | None | gnomAD-3.1.2 | 5.91E-05 | |
3225 | 79 | N/S | 166 | rs202011992 | 0.4923 | None | gnomAD-4.0.0 | 9.91407E-05 | |
3226 | 80 | R/K | 168 | rs769991631 | 0.7244 | None | gnomAD-2.1.1 | 3.98E-06 | |
3226 | 80 | R/K | 168 | rs769991631 | 0.7244 | None | gnomAD-4.0.0 | 1.59061E-06 | |
3226 | 80 | R/S | 168 | None | 0.7244 | None | gnomAD-4.0.0 | 1.20063E-06 | |
3227 | 81 | S/C | 169 | rs886042755 | 0.1891 | None | gnomAD-2.1.1 | 7.08E-06 | |
3227 | 81 | S/C | 169 | rs886042755 | 0.1891 | None | gnomAD-3.1.2 | 2.63E-05 | |
3227 | 81 | S/C | 169 | rs886042755 | 0.1891 | None | gnomAD-4.0.0 | 1.48725E-05 | |
3227 | 81 | S/N | 169 | None | 0.1891 | None | gnomAD-4.0.0 | 1.59059E-06 | |
3228 | 82 | S/C | 171 | rs371249764 | 0.2644 | None | gnomAD-2.1.1 | 1.19E-05 | |
3228 | 82 | S/C | 171 | rs371249764 | 0.2644 | None | gnomAD-3.1.2 | 2.63E-05 | |
3228 | 82 | S/C | 171 | rs371249764 | 0.2644 | None | gnomAD-4.0.0 | 1.54964E-05 | |
3228 | 82 | S/F | 171 | None | 0.2644 | None | gnomAD-4.0.0 | 1.36882E-06 | |
3230 | 84 | T/I | 173 | None | 0.2581 | None | gnomAD-4.0.0 | 1.20273E-06 | |
3230 | 84 | T/N | 173 | None | 0.2581 | None | gnomAD-4.0.0 | 1.20273E-06 | |
3231 | 85 | L/F | 174 | rs786205404 | 0.1256 | None | gnomAD-4.0.0 | 1.37231E-06 | |
3232 | 86 | Y/C | 175 | rs537306539 | 0.4465 | None | gnomAD-2.1.1 | 2.83E-05 | |
3232 | 86 | Y/C | 175 | rs537306539 | 0.4465 | None | gnomAD-3.1.2 | 6.57E-06 | |
3232 | 86 | Y/C | 175 | rs537306539 | 0.4465 | None | gnomAD-4.0.0 | 1.4279E-05 | |
3232 | 86 | Y/S | 175 | rs537306539 | 0.4465 | None | gnomAD-3.1.2 | 6.57E-06 | |
3232 | 86 | Y/S | 175 | rs537306539 | 0.4465 | None | 1000 genomes | 1.99681E-04 | |
3232 | 86 | Y/S | 175 | rs537306539 | 0.4465 | None | gnomAD-4.0.0 | 6.56625E-06 | |
3233 | 87 | V/I | 177 | None | 0.1293 | None | gnomAD-4.0.0 | 1.37494E-06 |