10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | Q | V | L | Q | E | L | Q | P | V | T | V | Q | S | G | K | P | A | R | F | C | A | V | I | S | G | R | P | Q | P | K | I | S | W | Y | K | E | E | Q | L | L | S | T | G | F | K | C | K | F | L | H | D | G | Q | E | Y | T | L | L | L | I | E | A | F | P | E | D | A | A | V | Y | T | C | E | A | K | N | D | Y | G | V | A | T | T | S | A | S | L | S | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
3239 | 1 | P/L | 1 | None | 0.2777 | None | gnomAD-4.0.0 | 1.59277E-06 | |
3239 | 1 | P/S | 1 | rs1394280644 | 0.2777 | None | gnomAD-2.1.1 | 4E-06 | |
3239 | 1 | P/S | 1 | rs1394280644 | 0.2777 | None | gnomAD-4.0.0 | 1.59279E-06 | |
3241 | 3 | V/L | 3 | rs777535305 | 0.2326 | None | gnomAD-2.1.1 | 4E-06 | |
3241 | 3 | V/L | 3 | rs777535305 | 0.2326 | None | gnomAD-3.1.2 | 1.31E-05 | |
3241 | 3 | V/L | 3 | rs777535305 | 0.2326 | None | gnomAD-4.0.0 | 3.84561E-06 | |
3242 | 4 | L/Q | 4 | rs2090060609 | 0.4446 | None | gnomAD-3.1.2 | 6.57E-06 | |
3242 | 4 | L/Q | 4 | rs2090060609 | 0.4446 | None | gnomAD-4.0.0 | 6.56927E-06 | |
3243 | 5 | Q/E | 5 | None | 0.3528 | None | gnomAD-4.0.0 | 6.8438E-07 | |
3243 | 5 | Q/R | 5 | None | 0.3528 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3245 | 7 | L/F | 8 | rs752456528 | 0.1162 | None | gnomAD-4.0.0 | 3.18361E-06 | |
3245 | 7 | L/V | 8 | rs752456528 | 0.1162 | None | gnomAD-3.1.2 | 6.57E-06 | |
3245 | 7 | L/V | 8 | rs752456528 | 0.1162 | None | gnomAD-4.0.0 | 2.56272E-06 | |
3246 | 8 | Q/H | 9 | None | 0.5658 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3246 | 8 | Q/L | 9 | None | 0.5658 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3246 | 8 | Q/R | 9 | None | 0.5658 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3247 | 9 | P/L | 11 | None | 0.5034 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3247 | 9 | P/T | 11 | rs2090057344 | 0.5034 | None | gnomAD-4.0.0 | 1.59154E-06 | |
3248 | 10 | V/A | 13 | rs2090056123 | 0.1942 | None | gnomAD-4.0.0 | 1.59135E-06 | |
3248 | 10 | V/I | 13 | rs754873655 | 0.1942 | None | gnomAD-2.1.1 | 3.99E-06 | |
3248 | 10 | V/I | 13 | rs754873655 | 0.1942 | None | gnomAD-4.0.0 | 1.3685E-06 | |
3249 | 11 | T/A | 14 | rs2090055572 | 0.5591 | None | gnomAD-4.0.0 | 2.73689E-06 | |
3250 | 12 | V/G | 16 | rs55634230 | 0.1863 | None | gnomAD-2.1.1 | 7.18E-05 | |
3250 | 12 | V/G | 16 | rs55634230 | 0.1863 | None | gnomAD-3.1.2 | 5.26E-05 | |
3250 | 12 | V/G | 16 | rs55634230 | 0.1863 | None | 1000 genomes | 3.99361E-04 | |
3250 | 12 | V/G | 16 | rs55634230 | 0.1863 | None | gnomAD-4.0.0 | 2.16864E-05 | |
3250 | 12 | V/L | 16 | None | 0.1863 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3251 | 13 | Q/L | 18 | None | 0.5166 | None | gnomAD-4.0.0 | 1.36833E-06 | |
3251 | 13 | Q/R | 18 | None | 0.5166 | None | gnomAD-4.0.0 | 6.84167E-07 | |
3252 | 14 | S/F | 23 | rs1436391849 | 0.3257 | None | gnomAD-2.1.1 | 1.99E-05 | |
3252 | 14 | S/F | 23 | rs1436391849 | 0.3257 | None | gnomAD-3.1.2 | 1.31E-05 | |
3252 | 14 | S/F | 23 | rs1436391849 | 0.3257 | None | gnomAD-4.0.0 | 1.28087E-05 | |
3253 | 15 | G/C | 24 | None | 0.2322 | None | gnomAD-4.0.0 | 1.59099E-06 | |
3254 | 16 | K/E | 25 | None | 0.5161 | None | gnomAD-4.0.0 | 1.59091E-06 | |
3254 | 16 | K/T | 25 | rs766499138 | 0.5161 | None | gnomAD-2.1.1 | 3.99E-06 | |
3255 | 17 | P/A | 26 | rs763012497 | 0.4993 | None | gnomAD-2.1.1 | 3.99E-06 | |
3255 | 17 | P/A | 26 | rs763012497 | 0.4993 | None | gnomAD-4.0.0 | 2.05242E-06 | |
3255 | 17 | P/R | 26 | rs2090051409 | 0.4993 | None | gnomAD-3.1.2 | 6.57E-06 | |
3255 | 17 | P/R | 26 | rs2090051409 | 0.4993 | None | gnomAD-4.0.0 | 2.56146E-06 | |
3255 | 17 | P/T | 26 | None | 0.4993 | None | gnomAD-2.1.1 | 7.98E-06 | |
3255 | 17 | P/T | 26 | None | 0.4993 | None | gnomAD-4.0.0 | 2.73657E-06 | |
3256 | 18 | A/T | 28 | rs1322989995 | 0.1625 | None | gnomAD-2.1.1 | 3.99E-06 | |
3256 | 18 | A/T | 28 | rs1322989995 | 0.1625 | None | gnomAD-4.0.0 | 1.59087E-06 | |
3257 | 19 | R/C | 29 | rs374521620 | 0.3812 | None | gnomAD-2.1.1 | 3.59E-05 | |
3257 | 19 | R/C | 29 | rs374521620 | 0.3812 | None | gnomAD-4.0.0 | 6.15723E-06 | |
3257 | 19 | R/G | 29 | None | 0.3812 | None | gnomAD-4.0.0 | 6.84137E-07 | |
3257 | 19 | R/H | 29 | rs535876380 | 0.3812 | None | gnomAD-2.1.1 | 3.19E-05 | |
3257 | 19 | R/H | 29 | rs535876380 | 0.3812 | None | gnomAD-3.1.2 | 2.63E-05 | |
3257 | 19 | R/H | 29 | rs535876380 | 0.3812 | None | 1000 genomes | 1.99681E-04 | |
3257 | 19 | R/H | 29 | rs535876380 | 0.3812 | None | gnomAD-4.0.0 | 7.06306E-05 | |
3257 | 19 | R/S | 29 | rs374521620 | 0.3812 | None | gnomAD-2.1.1 | 1.99E-05 | |
3257 | 19 | R/S | 29 | rs374521620 | 0.3812 | None | gnomAD-3.1.2 | 1.97E-05 | |
3257 | 19 | R/S | 29 | rs374521620 | 0.3812 | None | gnomAD-4.0.0 | 1.30125E-05 | |
3258 | 20 | F/I | 30 | None | 0.1012 | None | gnomAD-4.0.0 | 1.59075E-06 | |
3259 | 21 | C/R | 31 | None | 0.1389 | None | gnomAD-4.0.0 | 1.59077E-06 | |
3259 | 21 | C/S | 31 | rs1258913609 | 0.1389 | None | gnomAD-3.1.2 | 1.31E-05 | |
3259 | 21 | C/S | 31 | rs1258913609 | 0.1389 | None | gnomAD-4.0.0 | 1.31409E-05 | |
3259 | 21 | C/Y | 31 | rs794729585 | 0.1389 | None | gnomAD-3.1.2 | 6.57E-06 | |
3259 | 21 | C/Y | 31 | rs794729585 | 0.1389 | None | gnomAD-4.0.0 | 6.08966E-06 | |
3260 | 22 | A/P | 33 | None | 0.0971 | None | gnomAD-4.0.0 | 1.5907E-06 | |
3261 | 23 | V/L | 34 | rs2291311 | 0.1904 | None | gnomAD-4.0.0 | 4.10457E-06 | |
3261 | 23 | V/M | 34 | rs2291311 | 0.1904 | None | gnomAD-2.1.1 | 8.44463E-01 | |
3261 | 23 | V/M | 34 | rs2291311 | 0.1904 | None | gnomAD-3.1.2 | 8.69609E-01 | |
3261 | 23 | V/M | 34 | rs2291311 | 0.1904 | None | 1000 genomes | 8.04912E-01 | |
3261 | 23 | V/M | 34 | rs2291311 | 0.1904 | None | gnomAD-4.0.0 | 9.0011E-01 | |
3262 | 24 | I/L | 35 | None | 0.1148 | None | gnomAD-4.0.0 | 4.80129E-06 | |
3264 | 26 | G/R | 40 | rs370190599 | 0.2684 | None | gnomAD-2.1.1 | 1.2E-05 | |
3264 | 26 | G/R | 40 | rs370190599 | 0.2684 | None | gnomAD-3.1.2 | 1.31E-05 | |
3264 | 26 | G/R | 40 | rs370190599 | 0.2684 | None | gnomAD-4.0.0 | 4.95692E-06 | |
3265 | 27 | R/K | 41 | None | 0.9455 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3265 | 27 | R/S | 41 | rs141708467 | 0.9455 | None | gnomAD-2.1.1 | 2.48E-05 | |
3265 | 27 | R/S | 41 | rs141708467 | 0.9455 | None | gnomAD-3.1.2 | 1.24888E-04 | |
3265 | 27 | R/S | 41 | rs141708467 | 0.9455 | None | gnomAD-4.0.0 | 2.54036E-05 | |
3266 | 28 | P/L | 42 | None | 0.4915 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3266 | 28 | P/S | 42 | rs2090043271 | 0.4915 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3267 | 29 | Q/K | 43 | None | 0.6376 | None | gnomAD-4.0.0 | 2.40064E-06 | |
3268 | 30 | P/S | 44 | rs912372716 | 0.1604 | None | gnomAD-2.1.1 | 1.2E-05 | |
3268 | 30 | P/S | 44 | rs912372716 | 0.1604 | None | gnomAD-3.1.2 | 1.31E-05 | |
3268 | 30 | P/S | 44 | rs912372716 | 0.1604 | None | gnomAD-4.0.0 | 4.39906E-05 | |
3269 | 31 | K/T | 45 | None | 0.7946 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3270 | 32 | I/M | 46 | rs1447409995 | 0.2001 | None | gnomAD-2.1.1 | 3.98E-06 | |
3270 | 32 | I/T | 46 | None | 0.2001 | None | gnomAD-4.0.0 | 1.36815E-06 | |
3271 | 33 | S/A | 47 | rs556720151 | 0.2440 | None | gnomAD-2.1.1 | 3.54E-05 | |
3271 | 33 | S/A | 47 | rs556720151 | 0.2440 | None | gnomAD-3.1.2 | 1.11705E-04 | |
3271 | 33 | S/A | 47 | rs556720151 | 0.2440 | None | 1000 genomes | 3.99361E-04 | |
3271 | 33 | S/A | 47 | rs556720151 | 0.2440 | None | gnomAD-4.0.0 | 1.73467E-05 | |
3271 | 33 | S/F | 47 | rs867536098 | 0.2440 | None | gnomAD-2.1.1 | 3.98E-06 | |
3271 | 33 | S/F | 47 | rs867536098 | 0.2440 | None | gnomAD-4.0.0 | 4.77164E-06 | |
3271 | 33 | S/P | 47 | rs556720151 | 0.2440 | None | gnomAD-2.1.1 | 3.98E-06 | |
3271 | 33 | S/Y | 47 | rs867536098 | 0.2440 | None | gnomAD-2.1.1 | 3.98E-06 | |
3272 | 34 | W/C | 48 | rs1296156744 | 0.1246 | None | gnomAD-2.1.1 | 3.19E-05 | |
3272 | 34 | W/C | 48 | rs1296156744 | 0.1246 | None | gnomAD-3.1.2 | 6.57E-06 | |
3272 | 34 | W/C | 48 | rs1296156744 | 0.1246 | None | gnomAD-4.0.0 | 6.57255E-06 | |
3272 | 34 | W/R | 48 | None | 0.1246 | None | gnomAD-4.0.0 | 2.05222E-06 | |
3273 | 35 | Y/N | 49 | rs2090039389 | 0.2341 | None | gnomAD-3.1.2 | 6.57E-06 | |
3273 | 35 | Y/N | 49 | rs2090039389 | 0.2341 | None | gnomAD-4.0.0 | 6.57091E-06 | |
3274 | 36 | K/E | 50 | rs201696360 | 0.1924 | None | gnomAD-4.0.0 | 3.42035E-06 | |
3274 | 36 | K/Q | 50 | rs201696360 | 0.1924 | None | gnomAD-2.1.1 | 2.48E-05 | |
3274 | 36 | K/Q | 50 | rs201696360 | 0.1924 | None | gnomAD-3.1.2 | 1.31E-05 | |
3274 | 36 | K/Q | 50 | rs201696360 | 0.1924 | None | gnomAD-4.0.0 | 6.19573E-06 | |
3276 | 38 | E/G | 52 | rs377049518 | 0.7944 | None | gnomAD-2.1.1 | 1.77E-05 | |
3276 | 38 | E/G | 52 | rs377049518 | 0.7944 | None | gnomAD-3.1.2 | 3.29E-05 | |
3276 | 38 | E/G | 52 | rs377049518 | 0.7944 | None | gnomAD-4.0.0 | 8.85982E-05 | |
3276 | 38 | E/K | 52 | rs929694215 | 0.7944 | None | gnomAD-4.0.0 | 3.18103E-06 | |
3277 | 39 | Q/E | 55 | None | 0.7314 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3279 | 41 | L/V | 58 | None | 0.2232 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3280 | 42 | S/C | 59 | None | 0.6801 | None | gnomAD-4.0.0 | 6.84067E-07 | |
3280 | 42 | S/F | 59 | rs747768723 | 0.6801 | None | gnomAD-2.1.1 | 7.08E-06 | |
3280 | 42 | S/F | 59 | rs747768723 | 0.6801 | None | gnomAD-3.1.2 | 6.57E-06 | |
3280 | 42 | S/F | 59 | rs747768723 | 0.6801 | None | gnomAD-4.0.0 | 1.85869E-06 | |
3280 | 42 | S/P | 59 | None | 0.6801 | None | gnomAD-4.0.0 | 1.59049E-06 | |
3280 | 42 | S/Y | 59 | rs747768723 | 0.6801 | None | gnomAD-2.1.1 | 3.98E-06 | |
3280 | 42 | S/Y | 59 | rs747768723 | 0.6801 | None | gnomAD-4.0.0 | 4.1044E-06 | |
3281 | 43 | T/A | 70 | None | 0.5033 | None | gnomAD-4.0.0 | 2.40064E-06 | |
3283 | 45 | F/L | 102 | rs780860026 | 0.8999 | None | gnomAD-2.1.1 | 3.98E-06 | |
3283 | 45 | F/L | 102 | rs780860026 | 0.8999 | None | gnomAD-4.0.0 | 4.78852E-06 | |
3284 | 46 | K/R | 115 | rs147903846 | 0.3888 | None | gnomAD-2.1.1 | 5.67E-05 | |
3284 | 46 | K/R | 115 | rs147903846 | 0.3888 | None | gnomAD-3.1.2 | 5.26E-05 | |
3284 | 46 | K/R | 115 | rs147903846 | 0.3888 | None | gnomAD-4.0.0 | 9.04528E-05 | |
3285 | 47 | C/W | 121 | None | 0.1727 | None | gnomAD-4.0.0 | 6.84071E-07 | |
3286 | 48 | K/I | 122 | rs200052398 | 0.4123 | None | gnomAD-2.1.1 | 3.98E-06 | |
3286 | 48 | K/I | 122 | rs200052398 | 0.4123 | None | gnomAD-4.0.0 | 6.84073E-07 | |
3286 | 48 | K/N | 122 | rs2090032788 | 0.4123 | None | gnomAD-3.1.2 | 6.58E-06 | |
3286 | 48 | K/N | 122 | rs2090032788 | 0.4123 | None | gnomAD-4.0.0 | 2.56155E-06 | |
3286 | 48 | K/R | 122 | rs200052398 | 0.4123 | None | gnomAD-2.1.1 | 9.91E-05 | |
3286 | 48 | K/R | 122 | rs200052398 | 0.4123 | None | gnomAD-3.1.2 | 1.64391E-04 | |
3286 | 48 | K/R | 122 | rs200052398 | 0.4123 | None | 1000 genomes | 3.99361E-04 | |
3286 | 48 | K/R | 122 | rs200052398 | 0.4123 | None | gnomAD-4.0.0 | 2.40393E-04 | |
3286 | 48 | K/T | 122 | None | 0.4123 | None | gnomAD-2.1.1 | 3.98E-06 | |
3286 | 48 | K/T | 122 | None | 0.4123 | None | gnomAD-4.0.0 | 4.78851E-06 | |
3287 | 49 | F/C | 123 | None | 0.3443 | None | gnomAD-4.0.0 | 1.59051E-06 | |
3288 | 50 | L/V | 125 | rs1461236000 | 0.7915 | None | gnomAD-2.1.1 | 3.98E-06 | |
3288 | 50 | L/V | 125 | rs1461236000 | 0.7915 | None | gnomAD-4.0.0 | 1.59051E-06 | |
3289 | 51 | H/L | 127 | None | 0.6978 | None | gnomAD-4.0.0 | 6.8407E-07 | |
3289 | 51 | H/R | 127 | rs758526828 | 0.6978 | None | gnomAD-2.1.1 | 7.97E-06 | |
3289 | 51 | H/R | 127 | rs758526828 | 0.6978 | None | gnomAD-4.0.0 | 5.47256E-06 | |
3290 | 52 | D/E | 130 | rs727503680 | 0.9379 | None | gnomAD-4.0.0 | 6.84073E-06 | |
3290 | 52 | D/G | 130 | rs2090030791 | 0.9379 | None | gnomAD-4.0.0 | 1.59052E-06 | |
3290 | 52 | D/H | 130 | rs750489067 | 0.9379 | None | gnomAD-2.1.1 | 2.39E-05 | |
3290 | 52 | D/H | 130 | rs750489067 | 0.9379 | None | gnomAD-3.1.2 | 6.57E-06 | |
3290 | 52 | D/H | 130 | rs750489067 | 0.9379 | None | gnomAD-4.0.0 | 3.71752E-05 | |
3290 | 52 | D/Y | 130 | rs750489067 | 0.9379 | None | gnomAD-2.1.1 | 3.98E-06 | |
3290 | 52 | D/Y | 130 | rs750489067 | 0.9379 | None | gnomAD-3.1.2 | 6.57E-06 | |
3290 | 52 | D/Y | 130 | rs750489067 | 0.9379 | None | gnomAD-4.0.0 | 1.23917E-06 | |
3292 | 54 | Q/K | 134 | None | 0.3967 | None | gnomAD-4.0.0 | 1.59053E-06 | |
3292 | 54 | Q/R | 134 | rs794729586 | 0.3967 | None | gnomAD-2.1.1 | 3.98E-06 | |
3292 | 54 | Q/R | 134 | rs794729586 | 0.3967 | None | gnomAD-4.0.0 | 4.77161E-06 | |
3293 | 55 | E/D | 135 | rs4894043 | 0.4426 | None | gnomAD-4.0.0 | 6.84068E-07 | |
3293 | 55 | E/Q | 135 | rs2090028411 | 0.4426 | None | gnomAD-4.0.0 | 2.73628E-06 | |
3294 | 56 | Y/C | 136 | None | 0.1703 | None | gnomAD-4.0.0 | 2.40066E-06 | |
3295 | 57 | T/A | 137 | rs145053177 | 0.1241 | None | gnomAD-2.1.1 | 2.12E-05 | |
3295 | 57 | T/A | 137 | rs145053177 | 0.1241 | None | gnomAD-3.1.2 | 2.63E-05 | |
3295 | 57 | T/A | 137 | rs145053177 | 0.1241 | None | gnomAD-4.0.0 | 4.95672E-06 | |
3295 | 57 | T/M | 137 | rs191708454 | 0.1241 | None | gnomAD-2.1.1 | 2.54923E-04 | |
3295 | 57 | T/M | 137 | rs191708454 | 0.1241 | None | gnomAD-3.1.2 | 7.23E-05 | |
3295 | 57 | T/M | 137 | rs191708454 | 0.1241 | None | 1000 genomes | 3.99361E-04 | |
3295 | 57 | T/M | 137 | rs191708454 | 0.1241 | None | gnomAD-4.0.0 | 1.08423E-04 | |
3295 | 57 | T/P | 137 | rs145053177 | 0.1241 | None | gnomAD-4.0.0 | 6.84071E-07 | |
3296 | 58 | L/F | 138 | rs1449589213 | 0.0770 | None | gnomAD-2.1.1 | 3.98E-06 | |
3296 | 58 | L/F | 138 | rs1449589213 | 0.0770 | None | gnomAD-4.0.0 | 3.18099E-06 | |
3299 | 61 | I/T | 141 | rs2090024625 | 0.3764 | None | gnomAD-4.0.0 | 2.05222E-06 | |
3300 | 62 | E/A | 143 | rs1359178318 | 0.4717 | None | gnomAD-2.1.1 | 7.08E-06 | |
3300 | 62 | E/A | 143 | rs1359178318 | 0.4717 | None | gnomAD-3.1.2 | 6.57E-06 | |
3300 | 62 | E/A | 143 | rs1359178318 | 0.4717 | None | gnomAD-4.0.0 | 6.19579E-06 | |
3300 | 62 | E/Q | 143 | None | 0.4717 | None | gnomAD-4.0.0 | 1.20033E-06 | |
3301 | 63 | A/D | 144 | rs776187090 | 0.1130 | None | gnomAD-2.1.1 | 7.97E-06 | |
3301 | 63 | A/D | 144 | rs776187090 | 0.1130 | None | gnomAD-4.0.0 | 2.73632E-06 | |
3301 | 63 | A/T | 144 | rs1317267651 | 0.1130 | None | gnomAD-2.1.1 | 7.97E-06 | |
3301 | 63 | A/T | 144 | rs1317267651 | 0.1130 | None | gnomAD-4.0.0 | 3.18107E-06 | |
3301 | 63 | A/V | 144 | None | 0.1130 | None | gnomAD-4.0.0 | 6.8408E-07 | |
3302 | 64 | F/L | 145 | rs1382593583 | 0.3158 | None | gnomAD-2.1.1 | 3.98E-06 | |
3303 | 65 | P/L | 146 | rs201379132 | 0.4925 | None | gnomAD-2.1.1 | 1.09754E-04 | |
3303 | 65 | P/L | 146 | rs201379132 | 0.4925 | None | gnomAD-3.1.2 | 4.6E-05 | |
3303 | 65 | P/L | 146 | rs201379132 | 0.4925 | None | gnomAD-4.0.0 | 6.13382E-05 | |
3305 | 67 | D/G | 149 | None | 0.1984 | None | gnomAD-4.0.0 | 2.40065E-06 | |
3305 | 67 | D/H | 149 | None | 0.1984 | None | gnomAD-4.0.0 | 6.84078E-07 | |
3305 | 67 | D/N | 149 | rs746334195 | 0.1984 | None | gnomAD-2.1.1 | 3.98E-06 | |
3305 | 67 | D/N | 149 | rs746334195 | 0.1984 | None | gnomAD-4.0.0 | 6.84078E-07 | |
3305 | 67 | D/Y | 149 | rs746334195 | 0.1984 | None | gnomAD-2.1.1 | 3.98E-06 | |
3305 | 67 | D/Y | 149 | rs746334195 | 0.1984 | None | gnomAD-4.0.0 | 6.84078E-07 | |
3306 | 68 | A/P | 151 | None | 0.2799 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3306 | 68 | A/V | 151 | rs879006488 | 0.2799 | None | gnomAD-2.1.1 | 1.06E-05 | |
3306 | 68 | A/V | 151 | rs879006488 | 0.2799 | None | gnomAD-3.1.2 | 4.6E-05 | |
3306 | 68 | A/V | 151 | rs879006488 | 0.2799 | None | gnomAD-4.0.0 | 9.9136E-06 | |
3309 | 71 | Y/H | 154 | rs2090020782 | 0.1110 | None | gnomAD-3.1.2 | 6.57E-06 | |
3309 | 71 | Y/H | 154 | rs2090020782 | 0.1110 | None | gnomAD-4.0.0 | 6.56961E-06 | |
3310 | 72 | T/I | 155 | rs1433903188 | 0.2309 | None | gnomAD-3.1.2 | 6.57E-06 | |
3310 | 72 | T/I | 155 | rs1433903188 | 0.2309 | None | gnomAD-4.0.0 | 4.337E-06 | |
3310 | 72 | T/N | 155 | None | 0.2309 | None | gnomAD-3.1.2 | 1.31E-05 | |
3310 | 72 | T/N | 155 | None | 0.2309 | None | gnomAD-4.0.0 | 4.337E-06 | |
3310 | 72 | T/S | 155 | rs1433903188 | 0.2309 | None | gnomAD-2.1.1 | 3.18E-05 | |
3310 | 72 | T/S | 155 | rs1433903188 | 0.2309 | None | gnomAD-3.1.2 | 1.31E-05 | |
3310 | 72 | T/S | 155 | rs1433903188 | 0.2309 | None | gnomAD-4.0.0 | 1.31413E-05 | |
3314 | 76 | K/Q | 159 | rs769286646 | 0.3634 | None | gnomAD-2.1.1 | 3.99E-06 | |
3314 | 76 | K/Q | 159 | rs769286646 | 0.3634 | None | gnomAD-4.0.0 | 1.59054E-06 | |
3316 | 78 | D/A | 162 | rs780889180 | 0.8377 | None | gnomAD-3.1.2 | 6.57E-06 | |
3316 | 78 | D/A | 162 | rs780889180 | 0.8377 | None | gnomAD-4.0.0 | 6.56927E-06 | |
3316 | 78 | D/G | 162 | rs780889180 | 0.8377 | None | gnomAD-2.1.1 | 3.99E-06 | |
3316 | 78 | D/G | 162 | rs780889180 | 0.8377 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3316 | 78 | D/N | 162 | None | 0.8377 | None | gnomAD-4.0.0 | 1.59056E-06 | |
3317 | 79 | Y/C | 163 | rs768476150 | 0.9113 | None | gnomAD-2.1.1 | 1.99E-05 | |
3317 | 79 | Y/C | 163 | rs768476150 | 0.9113 | None | gnomAD-3.1.2 | 1.31E-05 | |
3317 | 79 | Y/C | 163 | rs768476150 | 0.9113 | None | gnomAD-4.0.0 | 1.28053E-05 | |
3319 | 81 | V/I | 165 | rs375533809 | 0.4174 | None | gnomAD-2.1.1 | 5.32E-05 | |
3319 | 81 | V/I | 165 | rs375533809 | 0.4174 | None | gnomAD-3.1.2 | 8.54E-05 | |
3319 | 81 | V/I | 165 | rs375533809 | 0.4174 | None | gnomAD-4.0.0 | 5.01858E-05 | |
3320 | 82 | A/T | 166 | rs144100066 | 0.2150 | None | gnomAD-2.1.1 | 2.13E-05 | |
3320 | 82 | A/T | 166 | rs144100066 | 0.2150 | None | gnomAD-3.1.2 | 1.31E-05 | |
3320 | 82 | A/T | 166 | rs144100066 | 0.2150 | None | gnomAD-4.0.0 | 5.57619E-06 | |
3320 | 82 | A/V | 166 | None | 0.2150 | None | gnomAD-4.0.0 | 3.60097E-06 | |
3322 | 84 | T/A | 169 | rs750311932 | 0.1459 | None | gnomAD-2.1.1 | 3.99E-06 | |
3322 | 84 | T/A | 169 | rs750311932 | 0.1459 | None | gnomAD-4.0.0 | 1.59057E-06 | |
3323 | 85 | S/A | 171 | rs2090015166 | 0.3772 | None | gnomAD-4.0.0 | 1.36816E-06 | |
3324 | 86 | A/P | 172 | None | 0.1025 | None | gnomAD-4.0.0 | 6.84085E-07 | |
3324 | 86 | A/S | 172 | None | 0.1025 | None | gnomAD-4.0.0 | 2.05226E-06 | |
3324 | 86 | A/T | 172 | None | 0.1025 | None | gnomAD-4.0.0 | 2.05226E-06 | |
3326 | 88 | L/F | 174 | None | 0.1445 | None | gnomAD-4.0.0 | 1.59064E-06 | |
3327 | 89 | S/L | 175 | rs1561162422 | 0.4347 | None | gnomAD-2.1.1 | 3.99E-06 | |
3327 | 89 | S/L | 175 | rs1561162422 | 0.4347 | None | gnomAD-4.0.0 | 1.59069E-06 | |
3328 | 90 | V/A | 177 | rs1060500412 | 0.2682 | None | gnomAD-2.1.1 | 7.99E-06 | |
3328 | 90 | V/A | 177 | rs1060500412 | 0.2682 | None | gnomAD-3.1.2 | 1.31E-05 | |
3328 | 90 | V/A | 177 | rs1060500412 | 0.2682 | None | gnomAD-4.0.0 | 1.549E-05 | |
3328 | 90 | V/L | 177 | None | 0.2682 | None | gnomAD-4.0.0 | 3.60097E-06 |