10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
K | P | D | K | P | T | G | P | I | V | I | E | A | L | L | K | N | S | A | V | I | S | W | K | P | P | A | D | D | G | G | S | W | I | T | N | Y | V | V | E | K | C | E | A | K | E | G | A | E | W | Q | L | V | S | S | A | I | S | V | T | T | C | R | I | V | N | L | T | E | N | A | G | Y | Y | F | R | V | S | A | Q | N | T | F | G | I | S | D | P | L | E | V | S | S | V | V | I | I | K | S |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
33291 | 2 | P/Q | 2 | None | 0.1078 | None | gnomAD-4.0.0 | 1.6557E-06 | |
33293 | 4 | K/E | 4 | None | 0.6000 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33293 | 4 | K/I | 4 | None | 0.6000 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33294 | 5 | P/S | 5 | None | 0.0936 | None | gnomAD-4.0.0 | 6.92161E-07 | |
33294 | 5 | P/T | 5 | None | 0.0936 | None | gnomAD-4.0.0 | 6.92161E-07 | |
33296 | 7 | G/E | 7 | rs771448420 | 0.4185 | None | gnomAD-4.0.0 | 2.40065E-06 | |
33296 | 7 | G/R | 7 | rs762113070 | 0.4185 | None | gnomAD-4.0.0 | 1.37916E-06 | |
33297 | 8 | P/L | 8 | rs369205591 | 0.6901 | None | gnomAD-2.1.1 | 8.17E-06 | |
33297 | 8 | P/L | 8 | rs369205591 | 0.6901 | None | gnomAD-4.0.0 | 1.61869E-06 | |
33298 | 9 | I/M | 9 | rs1487906230 | 0.1349 | None | gnomAD-4.0.0 | 3.2094E-06 | |
33298 | 9 | I/T | 9 | rs768876552 | 0.1349 | None | gnomAD-2.1.1 | 1.44E-05 | |
33298 | 9 | I/T | 9 | rs768876552 | 0.1349 | None | gnomAD-3.1.2 | 3.94E-05 | |
33298 | 9 | I/T | 9 | rs768876552 | 0.1349 | None | gnomAD-4.0.0 | 6.83855E-06 | |
33298 | 9 | I/V | 9 | rs1056550326 | 0.1349 | None | gnomAD-4.0.0 | 1.37353E-06 | |
33299 | 10 | V/A | 11 | rs794729554 | 0.4346 | None | gnomAD-2.1.1 | 4.05E-06 | |
33299 | 10 | V/A | 11 | rs794729554 | 0.4346 | None | gnomAD-3.1.2 | 6.57E-06 | |
33299 | 10 | V/A | 11 | rs794729554 | 0.4346 | None | gnomAD-4.0.0 | 3.86181E-06 | |
33299 | 10 | V/M | 11 | None | 0.4346 | None | gnomAD-4.0.0 | 1.6051E-06 | |
33300 | 11 | I/V | 12 | None | 0.2617 | None | gnomAD-4.0.0 | 1.37193E-06 | |
33301 | 12 | E/D | 13 | None | 0.5589 | None | gnomAD-4.0.0 | 1.80048E-05 | |
33301 | 12 | E/G | 13 | None | 0.5589 | None | gnomAD-4.0.0 | 2.40064E-06 | |
33301 | 12 | E/K | 13 | rs72648278 | 0.5589 | None | gnomAD-2.1.1 | 3.26605E-04 | |
33301 | 12 | E/K | 13 | rs72648278 | 0.5589 | None | gnomAD-3.1.2 | 3.81358E-04 | |
33301 | 12 | E/K | 13 | rs72648278 | 0.5589 | None | gnomAD-4.0.0 | 5.39021E-04 | |
33302 | 13 | A/G | 14 | None | 0.2756 | None | gnomAD-4.0.0 | 1.59817E-06 | |
33302 | 13 | A/P | 14 | None | 0.2756 | None | gnomAD-4.0.0 | 6.85583E-07 | |
33302 | 13 | A/T | 14 | rs1291047229 | 0.2756 | None | gnomAD-2.1.1 | 8.08E-06 | |
33302 | 13 | A/T | 14 | rs1291047229 | 0.2756 | None | gnomAD-4.0.0 | 2.74233E-06 | |
33303 | 14 | L/V | 15 | rs746345868 | 0.4594 | None | gnomAD-2.1.1 | 4.04E-06 | |
33304 | 15 | L/S | 16 | rs1691995704 | 0.4805 | None | gnomAD-4.0.0 | 1.59635E-06 | |
33305 | 16 | K/E | 17 | rs1553503789 | 0.5961 | None | gnomAD-3.1.2 | 1.31E-05 | |
33305 | 16 | K/E | 17 | rs1553503789 | 0.5961 | None | gnomAD-4.0.0 | 1.31427E-05 | |
33305 | 16 | K/N | 17 | None | 0.5961 | None | gnomAD-4.0.0 | 1.59584E-06 | |
33308 | 19 | A/T | 20 | rs201226974 | 0.1140 | None | gnomAD-2.1.1 | 9.3E-05 | |
33308 | 19 | A/T | 20 | rs201226974 | 0.1140 | None | gnomAD-3.1.2 | 5.92E-05 | |
33308 | 19 | A/T | 20 | rs201226974 | 0.1140 | None | gnomAD-4.0.0 | 5.08347E-05 | |
33313 | 24 | K/N | 25 | rs1691982544 | 0.6268 | None | gnomAD-3.1.2 | 1.31E-05 | |
33313 | 24 | K/N | 25 | rs1691982544 | 0.6268 | None | gnomAD-4.0.0 | 1.31454E-05 | |
33314 | 25 | P/L | 26 | None | 0.4297 | None | gnomAD-4.0.0 | 1.20033E-06 | |
33314 | 25 | P/S | 26 | rs754605294 | 0.4297 | None | gnomAD-2.1.1 | 3.58E-05 | |
33314 | 25 | P/S | 26 | rs754605294 | 0.4297 | None | gnomAD-3.1.2 | 4.6E-05 | |
33314 | 25 | P/S | 26 | rs754605294 | 0.4297 | None | gnomAD-4.0.0 | 1.17756E-05 | |
33315 | 26 | P/T | 27 | rs1401105733 | 0.1780 | None | gnomAD-2.1.1 | 4.03E-06 | |
33315 | 26 | P/T | 27 | rs1401105733 | 0.1780 | None | gnomAD-4.0.0 | 1.5916E-06 | |
33316 | 27 | A/T | 28 | rs374295768 | 0.7113 | None | gnomAD-2.1.1 | 2.50374E-04 | |
33316 | 27 | A/T | 28 | rs374295768 | 0.7113 | None | gnomAD-3.1.2 | 1.44604E-04 | |
33316 | 27 | A/T | 28 | rs374295768 | 0.7113 | None | 1000 genomes | 1.99681E-04 | |
33316 | 27 | A/T | 28 | rs374295768 | 0.7113 | None | gnomAD-4.0.0 | 1.3634E-04 | |
33316 | 27 | A/V | 28 | rs1406589986 | 0.7113 | None | gnomAD-2.1.1 | 4.03E-06 | |
33317 | 28 | D/Y | 29 | rs1318907026 | 0.5131 | None | gnomAD-2.1.1 | 3.19E-05 | |
33317 | 28 | D/Y | 29 | rs1318907026 | 0.5131 | None | gnomAD-3.1.2 | 6.57E-06 | |
33317 | 28 | D/Y | 29 | rs1318907026 | 0.5131 | None | gnomAD-4.0.0 | 2.56257E-06 | |
33318 | 29 | D/H | 30 | rs750273902 | 0.3126 | None | gnomAD-2.1.1 | 4.03E-06 | |
33318 | 29 | D/H | 30 | rs750273902 | 0.3126 | None | gnomAD-4.0.0 | 1.59163E-06 | |
33318 | 29 | D/N | 30 | None | 0.3126 | None | gnomAD-4.0.0 | 1.59163E-06 | |
33319 | 30 | G/R | 31 | rs72648279 | 0.3550 | None | gnomAD-2.1.1 | 1.21E-05 | |
33319 | 30 | G/R | 31 | rs72648279 | 0.3550 | None | gnomAD-3.1.2 | 6.57E-06 | |
33319 | 30 | G/R | 31 | rs72648279 | 0.3550 | None | gnomAD-4.0.0 | 1.79737E-05 | |
33320 | 31 | G/A | 32 | rs776541491 | 0.5762 | None | gnomAD-2.1.1 | 4.03E-06 | |
33320 | 31 | G/A | 32 | rs776541491 | 0.5762 | None | gnomAD-4.0.0 | 3.42149E-06 | |
33320 | 31 | G/R | 32 | None | 0.5762 | None | gnomAD-4.0.0 | 6.84294E-07 | |
33322 | 33 | W/C | 34 | rs775769503 | 1.1362 | None | gnomAD-2.1.1 | 5.64E-05 | |
33322 | 33 | W/C | 34 | rs775769503 | 1.1362 | None | gnomAD-3.1.2 | 2.63E-05 | |
33322 | 33 | W/C | 34 | rs775769503 | 1.1362 | None | gnomAD-4.0.0 | 6.57194E-06 | |
33322 | 33 | W/G | 34 | rs760971514 | 1.1362 | None | gnomAD-2.1.1 | 4.03E-06 | |
33322 | 33 | W/G | 34 | rs760971514 | 1.1362 | None | gnomAD-4.0.0 | 1.36863E-06 | |
33322 | 33 | W/R | 34 | None | 1.1362 | None | gnomAD-4.0.0 | 6.84313E-07 | |
33323 | 34 | I/F | 35 | rs1453366713 | 0.2104 | None | gnomAD-2.1.1 | 8.06E-06 | |
33323 | 34 | I/F | 35 | rs1453366713 | 0.2104 | None | gnomAD-3.1.2 | 6.57E-06 | |
33323 | 34 | I/F | 35 | rs1453366713 | 0.2104 | None | gnomAD-4.0.0 | 3.84423E-06 | |
33326 | 37 | Y/C | 38 | rs1337736297 | 0.1150 | None | gnomAD-2.1.1 | 4.03E-06 | |
33326 | 37 | Y/C | 38 | rs1337736297 | 0.1150 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33327 | 38 | V/L | 39 | rs1219652014 | 0.2025 | None | gnomAD-2.1.1 | 4.03E-06 | |
33327 | 38 | V/L | 39 | rs1219652014 | 0.2025 | None | gnomAD-4.0.0 | 1.59208E-06 | |
33328 | 39 | V/M | 40 | rs372302484 | 0.0971 | None | gnomAD-2.1.1 | 3.94E-05 | |
33328 | 39 | V/M | 40 | rs372302484 | 0.0971 | None | gnomAD-3.1.2 | 1.05139E-04 | |
33328 | 39 | V/M | 40 | rs372302484 | 0.0971 | None | gnomAD-4.0.0 | 2.23136E-05 | |
33330 | 41 | K/I | 42 | None | 0.1597 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33331 | 42 | C/R | 43 | rs56061641 | 0.0909 | None | gnomAD-2.1.1 | 2.61592E-04 | |
33331 | 42 | C/R | 43 | rs56061641 | 0.0909 | None | gnomAD-3.1.2 | 2.95885E-04 | |
33331 | 42 | C/R | 43 | rs56061641 | 0.0909 | None | 1000 genomes | 1.39776E-03 | |
33331 | 42 | C/R | 43 | rs56061641 | 0.0909 | None | gnomAD-4.0.0 | 2.12603E-04 | |
33331 | 42 | C/S | 43 | rs56061641 | 0.0909 | None | gnomAD-3.1.2 | 6.58E-06 | |
33331 | 42 | C/S | 43 | rs56061641 | 0.0909 | None | gnomAD-4.0.0 | 2.47952E-06 | |
33332 | 43 | E/G | 44 | rs1407789736 | 0.1941 | None | gnomAD-2.1.1 | 8.07E-06 | |
33332 | 43 | E/G | 44 | rs1407789736 | 0.1941 | None | gnomAD-3.1.2 | 6.57E-06 | |
33332 | 43 | E/G | 44 | rs1407789736 | 0.1941 | None | gnomAD-4.0.0 | 4.3393E-06 | |
33332 | 43 | E/K | 44 | rs1327630158 | 0.1941 | None | gnomAD-4.0.0 | 1.59249E-06 | |
33333 | 44 | A/G | 50 | rs746653975 | 0.3488 | None | gnomAD-2.1.1 | 4.04E-06 | |
33333 | 44 | A/G | 50 | rs746653975 | 0.3488 | None | gnomAD-4.0.0 | 6.84463E-07 | |
33333 | 44 | A/P | 50 | rs1171018948 | 0.3488 | None | gnomAD-2.1.1 | 4.04E-06 | |
33333 | 44 | A/V | 50 | None | 0.3488 | None | gnomAD-4.0.0 | 6.84463E-07 | |
33334 | 45 | K/E | 54 | None | 0.4660 | None | gnomAD-4.0.0 | 2.40064E-06 | |
33334 | 45 | K/R | 54 | rs1178919533 | 0.4660 | None | gnomAD-3.1.2 | 6.57E-06 | |
33334 | 45 | K/R | 54 | rs1178919533 | 0.4660 | None | gnomAD-4.0.0 | 2.5638E-06 | |
33335 | 46 | E/D | 60 | rs779632637 | 1.1543 | None | gnomAD-2.1.1 | 4.04E-06 | |
33335 | 46 | E/D | 60 | rs779632637 | 1.1543 | None | gnomAD-4.0.0 | 3.18546E-06 | |
33335 | 46 | E/K | 60 | None | 1.1543 | None | gnomAD-4.0.0 | 4.10669E-06 | |
33336 | 47 | G/R | 62 | rs757783646 | 0.7006 | None | gnomAD-2.1.1 | 7.17E-06 | |
33336 | 47 | G/R | 62 | rs757783646 | 0.7006 | None | gnomAD-3.1.2 | 1.97E-05 | |
33336 | 47 | G/R | 62 | rs757783646 | 0.7006 | None | gnomAD-4.0.0 | 4.05977E-06 | |
33339 | 50 | W/G | 65 | None | 0.2865 | None | gnomAD-4.0.0 | 3.0008E-05 | |
33340 | 51 | Q/K | 66 | rs558954116 | 0.5813 | None | gnomAD-2.1.1 | 2.42E-05 | |
33340 | 51 | Q/K | 66 | rs558954116 | 0.5813 | None | gnomAD-3.1.2 | 3.94E-05 | |
33340 | 51 | Q/K | 66 | rs558954116 | 0.5813 | None | 1000 genomes | 1.99681E-04 | |
33340 | 51 | Q/K | 66 | rs558954116 | 0.5813 | None | gnomAD-4.0.0 | 1.23976E-05 | |
33340 | 51 | Q/P | 66 | rs1691940311 | 0.5813 | None | gnomAD-3.1.2 | 6.57E-06 | |
33340 | 51 | Q/P | 66 | rs1691940311 | 0.5813 | None | gnomAD-4.0.0 | 6.57229E-06 | |
33341 | 52 | L/S | 67 | None | 0.4891 | None | gnomAD-4.0.0 | 1.59263E-06 | |
33345 | 56 | A/V | 75 | rs1559064081 | 0.6375 | None | gnomAD-4.0.0 | 1.5931E-06 | |
33346 | 57 | I/F | 77 | rs1436237460 | 0.1393 | None | gnomAD-2.1.1 | 4.04E-06 | |
33346 | 57 | I/F | 77 | rs1436237460 | 0.1393 | None | gnomAD-4.0.0 | 1.59283E-06 | |
33347 | 58 | S/P | 83 | rs1575319690 | 0.6390 | None | gnomAD-4.0.0 | 3.60097E-06 | |
33348 | 59 | V/A | 88 | rs957996377 | 0.5105 | None | gnomAD-3.1.2 | 6.57E-06 | |
33348 | 59 | V/A | 88 | rs957996377 | 0.5105 | None | gnomAD-4.0.0 | 3.84645E-06 | |
33348 | 59 | V/M | 88 | rs757184326 | 0.5105 | None | gnomAD-2.1.1 | 1.62E-05 | |
33348 | 59 | V/M | 88 | rs757184326 | 0.5105 | None | gnomAD-4.0.0 | 9.58358E-06 | |
33350 | 61 | T/I | 90 | rs370300135 | 0.3362 | None | gnomAD-2.1.1 | 1.25489E-04 | |
33350 | 61 | T/I | 90 | rs370300135 | 0.3362 | None | gnomAD-3.1.2 | 1.64292E-04 | |
33350 | 61 | T/I | 90 | rs370300135 | 0.3362 | None | 1000 genomes | 5.99042E-04 | |
33350 | 61 | T/I | 90 | rs370300135 | 0.3362 | None | gnomAD-4.0.0 | 4.52519E-05 | |
33351 | 62 | C/Y | 91 | None | 0.1350 | None | gnomAD-4.0.0 | 1.59303E-06 | |
33352 | 63 | R/G | 92 | rs1221389929 | 0.5687 | None | gnomAD-2.1.1 | 4.04E-06 | |
33352 | 63 | R/G | 92 | rs1221389929 | 0.5687 | None | gnomAD-4.0.0 | 1.59287E-06 | |
33353 | 64 | I/M | 93 | None | 0.0937 | None | gnomAD-4.0.0 | 6.84473E-07 | |
33353 | 64 | I/T | 93 | rs138234724 | 0.0937 | None | gnomAD-2.1.1 | 4.3E-05 | |
33353 | 64 | I/T | 93 | rs138234724 | 0.0937 | None | gnomAD-3.1.2 | 1.05133E-04 | |
33353 | 64 | I/T | 93 | rs138234724 | 0.0937 | None | 1000 genomes | 3.99361E-04 | |
33353 | 64 | I/T | 93 | rs138234724 | 0.0937 | None | gnomAD-4.0.0 | 2.60337E-05 | |
33354 | 65 | V/A | 94 | rs759484221 | 0.4459 | None | gnomAD-2.1.1 | 8.08E-06 | |
33354 | 65 | V/A | 94 | rs759484221 | 0.4459 | None | gnomAD-3.1.2 | 6.57E-06 | |
33354 | 65 | V/A | 94 | rs759484221 | 0.4459 | None | gnomAD-4.0.0 | 8.67887E-06 | |
33354 | 65 | V/M | 94 | rs879221791 | 0.4459 | None | gnomAD-2.1.1 | 3.18E-05 | |
33354 | 65 | V/M | 94 | rs879221791 | 0.4459 | None | gnomAD-3.1.2 | 6.57E-06 | |
33354 | 65 | V/M | 94 | rs879221791 | 0.4459 | None | gnomAD-4.0.0 | 1.85979E-06 | |
33355 | 66 | N/T | 96 | None | 0.8087 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33357 | 68 | T/I | 98 | None | 0.4193 | None | gnomAD-4.0.0 | 6.84498E-07 | |
33357 | 68 | T/K | 98 | None | 0.4193 | None | gnomAD-4.0.0 | 6.16048E-06 | |
33358 | 69 | E/A | 99 | None | 0.3966 | None | gnomAD-4.0.0 | 1.36894E-06 | |
33361 | 72 | G/D | 103 | rs1466606975 | 0.1297 | None | gnomAD-2.1.1 | 3.19E-05 | |
33361 | 72 | G/D | 103 | rs1466606975 | 0.1297 | None | gnomAD-3.1.2 | 6.57E-06 | |
33361 | 72 | G/D | 103 | rs1466606975 | 0.1297 | None | gnomAD-4.0.0 | 1.23987E-06 | |
33361 | 72 | G/S | 103 | None | 0.1297 | None | gnomAD-4.0.0 | 2.40065E-06 | |
33362 | 73 | Y/C | 104 | rs1378557058 | 0.0781 | None | gnomAD-2.1.1 | 4.04E-06 | |
33362 | 73 | Y/C | 104 | rs1378557058 | 0.0781 | None | gnomAD-3.1.2 | 6.57E-06 | |
33362 | 73 | Y/C | 104 | rs1378557058 | 0.0781 | None | gnomAD-4.0.0 | 2.56398E-06 | |
33363 | 74 | Y/F | 105 | rs774468606 | 0.2156 | None | gnomAD-2.1.1 | 3.63E-05 | |
33363 | 74 | Y/F | 105 | rs774468606 | 0.2156 | None | gnomAD-3.1.2 | 6.57E-06 | |
33363 | 74 | Y/F | 105 | rs774468606 | 0.2156 | None | gnomAD-4.0.0 | 8.6781E-06 | |
33365 | 76 | R/Q | 107 | rs55742743 | 0.1221 | None | gnomAD-2.1.1 | 1.24199E-02 | |
33365 | 76 | R/Q | 107 | rs55742743 | 0.1221 | None | gnomAD-3.1.2 | 1.26186E-02 | |
33365 | 76 | R/Q | 107 | rs55742743 | 0.1221 | None | 1000 genomes | 4.79233E-03 | |
33365 | 76 | R/Q | 107 | rs55742743 | 0.1221 | None | gnomAD-4.0.0 | 1.8557E-02 | |
33365 | 76 | R/W | 107 | rs543226487 | 0.1221 | None | gnomAD-2.1.1 | 1.08E-05 | |
33365 | 76 | R/W | 107 | rs543226487 | 0.1221 | None | gnomAD-3.1.2 | 1.97E-05 | |
33365 | 76 | R/W | 107 | rs543226487 | 0.1221 | None | gnomAD-4.0.0 | 3.71948E-06 | |
33366 | 77 | V/F | 108 | None | 0.0730 | None | gnomAD-4.0.0 | 6.84472E-07 | |
33366 | 77 | V/I | 108 | rs55675869 | 0.0730 | None | gnomAD-2.1.1 | 2.76972E-02 | |
33366 | 77 | V/I | 108 | rs55675869 | 0.0730 | None | gnomAD-3.1.2 | 2.15954E-02 | |
33366 | 77 | V/I | 108 | rs55675869 | 0.0730 | None | 1000 genomes | 2.31629E-02 | |
33366 | 77 | V/I | 108 | rs55675869 | 0.0730 | None | gnomAD-4.0.0 | 2.36062E-02 | |
33370 | 81 | N/K | 112 | None | 0.0939 | None | gnomAD-4.0.0 | 6.84449E-07 | |
33371 | 82 | T/I | 113 | rs2154137940 | 0.5171 | None | gnomAD-4.0.0 | 3.1849E-06 | |
33372 | 83 | F/C | 114 | None | 0.7356 | None | gnomAD-4.0.0 | 6.84417E-07 | |
33372 | 83 | F/L | 114 | rs770089807 | 0.7356 | None | gnomAD-3.1.2 | 6.57E-06 | |
33372 | 83 | F/L | 114 | rs770089807 | 0.7356 | None | gnomAD-4.0.0 | 1.36897E-06 | |
33372 | 83 | F/S | 114 | rs1691894622 | 0.7356 | None | gnomAD-4.0.0 | 2.05325E-06 | |
33372 | 83 | F/Y | 114 | None | 0.7356 | None | gnomAD-4.0.0 | 6.84417E-07 | |
33373 | 84 | G/A | 115 | None | 0.2100 | None | gnomAD-4.0.0 | 1.59262E-06 | |
33373 | 84 | G/S | 115 | rs55880786 | 0.2100 | None | gnomAD-2.1.1 | 3.23E-05 | |
33373 | 84 | G/S | 115 | rs55880786 | 0.2100 | None | gnomAD-3.1.2 | 2.63E-05 | |
33373 | 84 | G/S | 115 | rs55880786 | 0.2100 | None | gnomAD-4.0.0 | 2.35552E-05 | |
33374 | 85 | I/V | 117 | None | 0.4564 | None | gnomAD-4.0.0 | 1.36885E-06 | |
33375 | 86 | S/T | 118 | rs758043383 | 0.0838 | None | gnomAD-2.1.1 | 1.21E-05 | |
33375 | 86 | S/T | 118 | rs758043383 | 0.0838 | None | gnomAD-3.1.2 | 6.57E-06 | |
33375 | 86 | S/T | 118 | rs758043383 | 0.0838 | None | gnomAD-4.0.0 | 6.19876E-06 | |
33376 | 87 | D/E | 119 | rs1691887188 | 0.7157 | None | gnomAD-3.1.2 | 6.57E-06 | |
33376 | 87 | D/E | 119 | rs1691887188 | 0.7157 | None | gnomAD-4.0.0 | 6.84438E-07 | |
33376 | 87 | D/H | 119 | None | 0.7157 | None | gnomAD-4.0.0 | 6.84445E-07 | |
33376 | 87 | D/N | 119 | None | 0.7157 | None | gnomAD-4.0.0 | 6.84445E-07 | |
33376 | 87 | D/Y | 119 | None | 0.7157 | None | gnomAD-4.0.0 | 6.84445E-07 | |
33377 | 88 | P/H | 120 | None | 0.3092 | None | gnomAD-4.0.0 | 1.59254E-06 | |
33379 | 90 | E/G | 122 | None | 0.3599 | None | gnomAD-4.0.0 | 2.40064E-06 | |
33379 | 90 | E/K | 122 | None | 0.3599 | None | gnomAD-4.0.0 | 6.84462E-07 | |
33380 | 91 | V/E | 123 | rs1461056252 | 0.1661 | None | gnomAD-2.1.1 | 4.04E-06 | |
33380 | 91 | V/E | 123 | rs1461056252 | 0.1661 | None | gnomAD-4.0.0 | 7.96435E-06 | |
33381 | 92 | S/F | 124 | None | 0.8631 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33381 | 92 | S/P | 124 | None | 0.8631 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33382 | 93 | S/L | 125 | rs1212699230 | 0.5113 | None | gnomAD-2.1.1 | 4.04E-06 | |
33382 | 93 | S/L | 125 | rs1212699230 | 0.5113 | None | gnomAD-4.0.0 | 6.84559E-07 | |
33383 | 94 | V/A | 126 | rs1237202129 | 0.3573 | None | gnomAD-3.1.2 | 6.57E-06 | |
33383 | 94 | V/A | 126 | rs1237202129 | 0.3573 | None | gnomAD-4.0.0 | 2.56461E-06 | |
33383 | 94 | V/I | 126 | rs1691876264 | 0.3573 | None | gnomAD-4.0.0 | 3.18697E-06 | |
33384 | 95 | V/M | 127 | None | 0.1665 | None | gnomAD-4.0.0 | 2.05431E-06 | |
33385 | 96 | I/T | 128 | None | 0.4845 | None | gnomAD-4.0.0 | 1.59918E-06 | |
33386 | 97 | I/T | 130 | None | 0.0889 | None | gnomAD-4.0.0 | 2.74622E-06 | |
33386 | 97 | I/V | 130 | rs1691868838 | 0.0889 | None | gnomAD-3.1.2 | 6.57E-06 | |
33386 | 97 | I/V | 130 | rs1691868838 | 0.0889 | None | gnomAD-4.0.0 | 1.24349E-06 | |
33387 | 98 | K/N | 131 | None | 0.6411 | None | gnomAD-4.0.0 | 1.37387E-06 | |
33388 | 99 | S/G | 132 | None | 0.8780 | None | gnomAD-4.0.0 | 1.61255E-06 | |
33388 | 99 | S/N | 132 | rs745406517 | 0.8780 | None | gnomAD-2.1.1 | 1.09E-05 | |
33388 | 99 | S/N | 132 | rs745406517 | 0.8780 | None | gnomAD-3.1.2 | 3.29E-05 | |
33388 | 99 | S/N | 132 | rs745406517 | 0.8780 | None | gnomAD-4.0.0 | 1.12185E-05 | |
33388 | 99 | S/R | 132 | None | 0.8780 | None | gnomAD-4.0.0 | 2.40094E-06 |