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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
4981 | 1 | P/S | 1 | rs1305431573 | 0.1513 | None | gnomAD-3.1.2 | 6.57E-06 | |
4981 | 1 | P/S | 1 | rs1305431573 | 0.1513 | None | gnomAD-4.0.0 | 6.57246E-06 | |
4982 | 2 | S/T | 2 | rs775173260 | 0.2634 | None | gnomAD-3.1.2 | 6.57E-06 | |
4982 | 2 | S/T | 2 | rs775173260 | 0.2634 | None | gnomAD-4.0.0 | 6.5697E-06 | |
4984 | 4 | V/M | 4 | rs903648091 | 0.5640 | None | gnomAD-4.0.0 | 1.397E-05 | |
4985 | 5 | K/T | 5 | rs750177841 | 0.3347 | None | gnomAD-2.1.1 | 5.67E-05 | |
4985 | 5 | K/T | 5 | rs750177841 | 0.3347 | None | gnomAD-3.1.2 | 1.31E-05 | |
4985 | 5 | K/T | 5 | rs750177841 | 0.3347 | None | gnomAD-4.0.0 | 2.45542E-05 | |
4986 | 6 | K/N | 7 | None | 0.3420 | None | gnomAD-4.0.0 | 6.94833E-07 | |
4988 | 8 | D/E | 9 | None | 0.6179 | None | gnomAD-4.0.0 | 1.63507E-06 | |
4988 | 8 | D/G | 9 | rs1029051488 | 0.6179 | None | gnomAD-4.0.0 | 6.24316E-06 | |
4989 | 9 | P/L | 11 | rs1560844298 | 0.6600 | None | gnomAD-4.0.0 | 3.26883E-06 | |
4989 | 9 | P/S | 11 | rs80003323 | 0.6600 | None | gnomAD-2.1.1 | 4.47E-06 | |
4989 | 9 | P/S | 11 | rs80003323 | 0.6600 | None | gnomAD-3.1.2 | 6.57E-06 | |
4989 | 9 | P/S | 11 | rs80003323 | 0.6600 | None | gnomAD-4.0.0 | 6.26231E-06 | |
4989 | 9 | P/T | 11 | rs80003323 | 0.6600 | None | gnomAD-2.1.1 | 4.47E-06 | |
4989 | 9 | P/T | 11 | rs80003323 | 0.6600 | None | gnomAD-3.1.2 | 1.31E-05 | |
4989 | 9 | P/T | 11 | rs80003323 | 0.6600 | None | 1000 genomes | 1.99681E-04 | |
4989 | 9 | P/T | 11 | rs80003323 | 0.6600 | None | gnomAD-4.0.0 | 1.00189E-05 | |
4990 | 10 | S/P | 12 | None | 0.4539 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4991 | 11 | Y/C | 13 | None | 0.3474 | None | gnomAD-4.0.0 | 1.37791E-06 | |
4991 | 11 | Y/F | 13 | rs1422915877 | 0.3474 | None | gnomAD-2.1.1 | 4.36E-06 | |
4991 | 11 | Y/F | 13 | rs1422915877 | 0.3474 | None | gnomAD-4.0.0 | 1.37791E-06 | |
4991 | 11 | Y/N | 13 | None | 0.3474 | None | gnomAD-4.0.0 | 2.75639E-06 | |
4991 | 11 | Y/S | 13 | None | 0.3474 | None | gnomAD-4.0.0 | 6.88954E-07 | |
4993 | 13 | M/I | 16 | None | 0.1632 | None | gnomAD-4.0.0 | 1.60967E-06 | |
4993 | 13 | M/V | 16 | None | 0.1632 | None | gnomAD-4.0.0 | 1.61024E-06 | |
4994 | 14 | L/V | 18 | None | 0.6591 | None | gnomAD-4.0.0 | 1.60867E-06 | |
4995 | 15 | P/R | 23 | rs72648927 | 0.4241 | None | gnomAD-2.1.1 | 8.09052E-03 | |
4995 | 15 | P/R | 23 | rs72648927 | 0.4241 | None | gnomAD-3.1.2 | 7.18952E-03 | |
4995 | 15 | P/R | 23 | rs72648927 | 0.4241 | None | 1000 genomes | 4.39297E-03 | |
4995 | 15 | P/R | 23 | rs72648927 | 0.4241 | None | gnomAD-4.0.0 | 8.84273E-03 | |
4995 | 15 | P/S | 23 | rs776578141 | 0.4241 | None | gnomAD-2.1.1 | 1.27E-05 | |
4995 | 15 | P/S | 23 | rs776578141 | 0.4241 | None | gnomAD-3.1.2 | 6.57E-06 | |
4995 | 15 | P/S | 23 | rs776578141 | 0.4241 | None | gnomAD-4.0.0 | 2.23889E-05 | |
4996 | 16 | G/D | 24 | None | 0.3165 | None | gnomAD-4.0.0 | 1.60299E-06 | |
4997 | 17 | E/D | 25 | None | 0.3011 | None | gnomAD-4.0.0 | 1.60003E-06 | |
4997 | 17 | E/G | 25 | rs775749900 | 0.3011 | None | gnomAD-2.1.1 | 2.08E-05 | |
4997 | 17 | E/G | 25 | rs775749900 | 0.3011 | None | gnomAD-3.1.2 | 6.57E-06 | |
4997 | 17 | E/G | 25 | rs775749900 | 0.3011 | None | gnomAD-4.0.0 | 1.05588E-05 | |
5000 | 20 | R/C | 29 | rs369933152 | 0.5107 | None | gnomAD-2.1.1 | 1.13302E-04 | |
5000 | 20 | R/C | 29 | rs369933152 | 0.5107 | None | gnomAD-3.1.2 | 3.15424E-04 | |
5000 | 20 | R/C | 29 | rs369933152 | 0.5107 | None | 1000 genomes | 1.99681E-04 | |
5000 | 20 | R/C | 29 | rs369933152 | 0.5107 | None | gnomAD-4.0.0 | 7.13735E-05 | |
5000 | 20 | R/G | 29 | None | 0.5107 | None | gnomAD-4.0.0 | 6.85424E-07 | |
5000 | 20 | R/H | 29 | rs377062348 | 0.5107 | None | gnomAD-2.1.1 | 2.19E-05 | |
5000 | 20 | R/H | 29 | rs377062348 | 0.5107 | None | gnomAD-3.1.2 | 5.26E-05 | |
5000 | 20 | R/H | 29 | rs377062348 | 0.5107 | None | gnomAD-4.0.0 | 2.42061E-05 | |
5000 | 20 | R/P | 29 | None | 0.5107 | None | gnomAD-4.0.0 | 1.37079E-06 | |
5001 | 21 | L/F | 30 | None | 0.1368 | None | gnomAD-4.0.0 | 4.78956E-06 | |
5001 | 21 | L/V | 30 | rs774593495 | 0.1368 | None | gnomAD-2.1.1 | 4.11E-06 | |
5002 | 22 | H/N | 31 | None | 0.5710 | None | gnomAD-4.0.0 | 1.59585E-06 | |
5002 | 22 | H/P | 31 | None | 0.5710 | None | gnomAD-4.0.0 | 1.59534E-06 | |
5002 | 22 | H/Y | 31 | None | 0.5710 | None | gnomAD-4.0.0 | 1.59585E-06 | |
5003 | 23 | C/W | 33 | None | 0.0907 | None | gnomAD-4.0.0 | 1.36977E-06 | |
5003 | 23 | C/Y | 33 | rs374015538 | 0.0907 | None | gnomAD-2.1.1 | 2.04E-05 | |
5003 | 23 | C/Y | 33 | rs374015538 | 0.0907 | None | gnomAD-3.1.2 | 6.57E-06 | |
5003 | 23 | C/Y | 33 | rs374015538 | 0.0907 | None | gnomAD-4.0.0 | 6.41802E-06 | |
5004 | 24 | K/E | 34 | None | 0.3232 | None | gnomAD-4.0.0 | 1.59415E-06 | |
5005 | 25 | L/V | 35 | rs1449279284 | 0.1405 | None | gnomAD-2.1.1 | 4.07E-06 | |
5005 | 25 | L/V | 35 | rs1449279284 | 0.1405 | None | gnomAD-4.0.0 | 1.3694E-06 | |
5006 | 26 | K/R | 38 | None | 0.5214 | None | gnomAD-4.0.0 | 1.36915E-06 | |
5007 | 27 | G/C | 40 | None | 0.3439 | None | gnomAD-4.0.0 | 1.59307E-06 | |
5007 | 27 | G/S | 40 | None | 0.3439 | None | gnomAD-4.0.0 | 1.59307E-06 | |
5007 | 27 | G/V | 40 | None | 0.3439 | None | gnomAD-4.0.0 | 2.73816E-06 | |
5008 | 28 | S/L | 41 | None | 0.2340 | None | gnomAD-4.0.0 | 2.40064E-06 | |
5012 | 32 | Q/H | 45 | None | 0.7343 | None | gnomAD-4.0.0 | 1.5922E-06 | |
5014 | 34 | T/A | 47 | rs143093473 | 0.2765 | None | gnomAD-2.1.1 | 6.05E-05 | |
5014 | 34 | T/A | 47 | rs143093473 | 0.2765 | None | gnomAD-3.1.2 | 6.57E-06 | |
5014 | 34 | T/A | 47 | rs143093473 | 0.2765 | None | gnomAD-4.0.0 | 2.35528E-05 | |
5014 | 34 | T/I | 47 | None | 0.2765 | None | gnomAD-4.0.0 | 1.59202E-06 | |
5014 | 34 | T/S | 47 | rs143093473 | 0.2765 | None | gnomAD-2.1.1 | 9.67E-05 | |
5014 | 34 | T/S | 47 | rs143093473 | 0.2765 | None | gnomAD-3.1.2 | 3.29E-05 | |
5014 | 34 | T/S | 47 | rs143093473 | 0.2765 | None | 1000 genomes | 5.99042E-04 | |
5014 | 34 | T/S | 47 | rs143093473 | 0.2765 | None | gnomAD-4.0.0 | 2.41708E-05 | |
5016 | 36 | F/L | 49 | rs530321856 | 0.1909 | None | gnomAD-2.1.1 | 4.03E-06 | |
5016 | 36 | F/L | 49 | rs530321856 | 0.1909 | None | gnomAD-3.1.2 | 6.57E-06 | |
5016 | 36 | F/L | 49 | rs530321856 | 0.1909 | None | 1000 genomes | 1.99681E-04 | |
5016 | 36 | F/L | 49 | rs530321856 | 0.1909 | None | gnomAD-4.0.0 | 3.04433E-06 | |
5018 | 38 | N/S | 51 | None | 0.5127 | None | gnomAD-4.0.0 | 3.60097E-06 | |
5019 | 39 | N/S | 52 | None | 0.9534 | None | gnomAD-4.0.0 | 4.78995E-06 | |
5021 | 41 | E/D | 56 | rs727503651 | 0.5340 | None | gnomAD-2.1.1 | 2.82E-05 | |
5021 | 41 | E/D | 56 | rs727503651 | 0.5340 | None | gnomAD-3.1.2 | 1.31E-05 | |
5021 | 41 | E/D | 56 | rs727503651 | 0.5340 | None | gnomAD-4.0.0 | 1.40938E-05 | |
5021 | 41 | E/K | 56 | rs779917005 | 0.5340 | None | gnomAD-2.1.1 | 4.03E-06 | |
5022 | 42 | L/F | 58 | rs931153562 | 0.2323 | None | gnomAD-3.1.2 | 6.57E-06 | |
5022 | 42 | L/F | 58 | rs931153562 | 0.2323 | None | gnomAD-4.0.0 | 6.57212E-06 | |
5022 | 42 | L/V | 58 | rs931153562 | 0.2323 | None | gnomAD-2.1.1 | 4.03E-06 | |
5022 | 42 | L/V | 58 | rs931153562 | 0.2323 | None | gnomAD-4.0.0 | 1.5916E-06 | |
5023 | 43 | S/N | 59 | rs878907513 | 0.6977 | None | gnomAD-2.1.1 | 8.05E-06 | |
5023 | 43 | S/N | 59 | rs878907513 | 0.6977 | None | gnomAD-4.0.0 | 1.98436E-05 | |
5024 | 44 | E/A | 70 | None | 0.6004 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5024 | 44 | E/G | 70 | rs2081168482 | 0.6004 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5024 | 44 | E/K | 70 | rs750031855 | 0.6004 | None | gnomAD-2.1.1 | 7.15E-05 | |
5024 | 44 | E/K | 70 | rs750031855 | 0.6004 | None | gnomAD-3.1.2 | 2.63E-05 | |
5024 | 44 | E/K | 70 | rs750031855 | 0.6004 | None | gnomAD-4.0.0 | 1.92116E-05 | |
5026 | 46 | N/K | 102 | None | 1.0455 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5027 | 47 | T/I | 115 | rs778591734 | 0.3784 | None | gnomAD-2.1.1 | 1.61E-05 | |
5027 | 47 | T/K | 115 | None | 0.3784 | None | gnomAD-4.0.0 | 1.36849E-06 | |
5029 | 49 | R/L | 122 | rs200792058 | 0.5652 | None | gnomAD-3.1.2 | 6.57E-06 | |
5029 | 49 | R/L | 122 | rs200792058 | 0.5652 | None | gnomAD-4.0.0 | 6.57333E-06 | |
5029 | 49 | R/Q | 122 | rs200792058 | 0.5652 | None | gnomAD-2.1.1 | 1.75025E-04 | |
5029 | 49 | R/Q | 122 | rs200792058 | 0.5652 | None | gnomAD-3.1.2 | 6.57E-05 | |
5029 | 49 | R/Q | 122 | rs200792058 | 0.5652 | None | gnomAD-4.0.0 | 1.96444E-04 | |
5030 | 50 | M/I | 123 | rs753772585 | 0.2235 | None | gnomAD-3.1.2 | 1.97E-05 | |
5030 | 50 | M/I | 123 | rs753772585 | 0.2235 | None | gnomAD-4.0.0 | 8.1197E-06 | |
5031 | 51 | Y/C | 125 | rs1239777211 | 0.4653 | None | gnomAD-2.1.1 | 4.02E-06 | |
5031 | 51 | Y/C | 125 | rs1239777211 | 0.4653 | None | gnomAD-4.0.0 | 1.59134E-06 | |
5031 | 51 | Y/D | 125 | rs879023034 | 0.4653 | None | gnomAD-2.1.1 | 1.07E-05 | |
5031 | 51 | Y/D | 125 | rs879023034 | 0.4653 | None | gnomAD-3.1.2 | 1.97E-05 | |
5031 | 51 | Y/D | 125 | rs879023034 | 0.4653 | None | gnomAD-4.0.0 | 1.2394E-05 | |
5032 | 52 | F/C | 127 | None | 0.3210 | None | gnomAD-4.0.0 | 1.59135E-06 | |
5032 | 52 | F/L | 127 | None | 0.3210 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5033 | 53 | V/I | 130 | rs1296327328 | 0.6199 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5034 | 54 | N/H | 131 | rs1211030254 | 0.8646 | None | gnomAD-4.0.0 | 1.27304E-05 | |
5034 | 54 | N/S | 131 | rs764009823 | 0.8646 | None | gnomAD-2.1.1 | 1.61E-05 | |
5034 | 54 | N/S | 131 | rs764009823 | 0.8646 | None | gnomAD-3.1.2 | 6.57E-06 | |
5034 | 54 | N/S | 131 | rs764009823 | 0.8646 | None | gnomAD-4.0.0 | 6.8166E-06 | |
5035 | 55 | S/C | 134 | None | 0.3246 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5035 | 55 | S/F | 134 | rs2081161682 | 0.3246 | None | gnomAD-3.1.2 | 6.57E-06 | |
5035 | 55 | S/F | 134 | rs2081161682 | 0.3246 | None | gnomAD-4.0.0 | 6.57229E-06 | |
5035 | 55 | S/T | 134 | None | 0.3246 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5036 | 56 | E/G | 135 | None | 0.3570 | None | gnomAD-4.0.0 | 1.59127E-06 | |
5036 | 56 | E/K | 135 | rs1353528713 | 0.3570 | None | gnomAD-2.1.1 | 4.02E-06 | |
5036 | 56 | E/K | 135 | rs1353528713 | 0.3570 | None | gnomAD-4.0.0 | 1.59131E-06 | |
5037 | 57 | A/V | 136 | rs2081160946 | 0.0984 | None | gnomAD-4.0.0 | 1.32035E-05 | |
5038 | 58 | I/T | 137 | rs949151920 | 0.2116 | None | gnomAD-4.0.0 | 1.5913E-06 | |
5038 | 58 | I/V | 137 | rs2081160150 | 0.2116 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5039 | 59 | L/F | 138 | rs917573806 | 0.0828 | None | gnomAD-4.0.0 | 1.5913E-06 | |
5040 | 60 | D/G | 139 | rs1315700657 | 0.2422 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5040 | 60 | D/H | 139 | None | 0.2422 | None | gnomAD-4.0.0 | 1.36843E-06 | |
5040 | 60 | D/Y | 139 | None | 0.2422 | None | gnomAD-4.0.0 | 1.36843E-06 | |
5041 | 61 | I/S | 140 | rs752780850 | 0.1591 | None | gnomAD-2.1.1 | 8.04E-06 | |
5041 | 61 | I/S | 140 | rs752780850 | 0.1591 | None | gnomAD-3.1.2 | 6.57E-06 | |
5041 | 61 | I/S | 140 | rs752780850 | 0.1591 | None | gnomAD-4.0.0 | 8.96728E-06 | |
5041 | 61 | I/V | 140 | rs760814989 | 0.1591 | None | gnomAD-2.1.1 | 1.43E-05 | |
5041 | 61 | I/V | 140 | rs760814989 | 0.1591 | None | gnomAD-3.1.2 | 6.57E-06 | |
5041 | 61 | I/V | 140 | rs760814989 | 0.1591 | None | gnomAD-4.0.0 | 4.95745E-06 | |
5042 | 62 | T/M | 141 | rs1060500462 | 0.4044 | None | gnomAD-3.1.2 | 1.97E-05 | |
5042 | 62 | T/M | 141 | rs1060500462 | 0.4044 | None | gnomAD-4.0.0 | 3.09861E-06 | |
5042 | 62 | T/R | 141 | None | 0.4044 | None | gnomAD-4.0.0 | 6.84223E-07 | |
5043 | 63 | D/G | 143 | rs1578215701 | 0.6880 | None | gnomAD-4.0.0 | 6.84213E-07 | |
5043 | 63 | D/V | 143 | None | 0.6880 | None | gnomAD-4.0.0 | 6.84213E-07 | |
5043 | 63 | D/Y | 143 | rs1345038643 | 0.6880 | None | gnomAD-2.1.1 | 3.18E-05 | |
5044 | 64 | V/L | 144 | None | 0.1036 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5046 | 66 | V/F | 146 | rs1395287554 | 0.5271 | None | gnomAD-3.1.2 | 6.57E-06 | |
5046 | 66 | V/F | 146 | rs1395287554 | 0.5271 | None | gnomAD-4.0.0 | 1.23941E-06 | |
5046 | 66 | V/I | 146 | rs1395287554 | 0.5271 | None | gnomAD-2.1.1 | 4.02E-06 | |
5046 | 66 | V/I | 146 | rs1395287554 | 0.5271 | None | gnomAD-4.0.0 | 1.36848E-06 | |
5048 | 68 | D/A | 149 | None | 0.2293 | None | gnomAD-4.0.0 | 3.18261E-06 | |
5048 | 68 | D/E | 149 | rs371699709 | 0.2293 | None | gnomAD-2.1.1 | 8.04E-06 | |
5048 | 68 | D/E | 149 | rs371699709 | 0.2293 | None | gnomAD-3.1.2 | 6.57E-06 | |
5048 | 68 | D/E | 149 | rs371699709 | 0.2293 | None | gnomAD-4.0.0 | 9.29558E-06 | |
5049 | 69 | S/G | 151 | None | 0.2449 | None | gnomAD-4.0.0 | 1.5913E-06 | |
5049 | 69 | S/N | 151 | rs1314741857 | 0.2449 | None | gnomAD-2.1.1 | 4.02E-06 | |
5049 | 69 | S/N | 151 | rs1314741857 | 0.2449 | None | gnomAD-4.0.0 | 4.77432E-06 | |
5050 | 70 | G/E | 152 | None | 0.1955 | None | gnomAD-4.0.0 | 6.84292E-07 | |
5050 | 70 | G/R | 152 | None | 0.1955 | None | gnomAD-4.0.0 | 6.84219E-07 | |
5050 | 70 | G/V | 152 | None | 0.1955 | None | gnomAD-4.0.0 | 6.84292E-07 | |
5050 | 70 | G/W | 152 | rs908686601 | 0.1955 | None | gnomAD-3.1.2 | 5.91E-05 | |
5050 | 70 | G/W | 152 | rs908686601 | 0.1955 | None | gnomAD-4.0.0 | 1.05346E-05 | |
5051 | 71 | S/C | 153 | rs2081151606 | 0.3822 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5052 | 72 | Y/C | 154 | rs950432591 | 0.1386 | None | gnomAD-3.1.2 | 6.57E-06 | |
5052 | 72 | Y/C | 154 | rs950432591 | 0.1386 | None | gnomAD-4.0.0 | 6.57022E-06 | |
5052 | 72 | Y/F | 154 | rs950432591 | 0.1386 | None | gnomAD-4.0.0 | 1.36864E-06 | |
5053 | 73 | S/L | 155 | None | 0.2106 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5053 | 73 | S/P | 155 | None | 0.2106 | None | gnomAD-4.0.0 | 1.59179E-06 | |
5054 | 74 | C/R | 156 | None | 0.0766 |
CFTD |
Literature | None | |
5054 | 74 | C/R | 156 | None | 0.0766 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5054 | 74 | C/Y | 156 | None | 0.0766 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5055 | 75 | E/D | 157 | None | 0.3000 | None | gnomAD-4.0.0 | 1.59185E-06 | |
5055 | 75 | E/G | 157 | rs1185775947 | 0.3000 | None | gnomAD-3.1.2 | 6.57E-06 | |
5055 | 75 | E/G | 157 | rs1185775947 | 0.3000 | None | gnomAD-4.0.0 | 6.57004E-06 | |
5055 | 75 | E/K | 157 | None | 0.3000 | None | gnomAD-4.0.0 | 2.40064E-06 | |
5056 | 76 | A/S | 158 | rs763353350 | 0.0896 | None | gnomAD-4.0.0 | 2.73751E-06 | |
5056 | 76 | A/T | 158 | rs763353350 | 0.0896 | None | gnomAD-2.1.1 | 4.02E-06 | |
5056 | 76 | A/T | 158 | rs763353350 | 0.0896 | None | gnomAD-4.0.0 | 6.84377E-07 | |
5057 | 77 | V/L | 159 | None | 0.2772 | None | gnomAD-4.0.0 | 1.5924E-06 | |
5058 | 78 | N/S | 161 | rs773648136 | 0.1254 | None | gnomAD-2.1.1 | 8.04E-06 | |
5058 | 78 | N/S | 161 | rs773648136 | 0.1254 | None | gnomAD-4.0.0 | 3.18528E-06 | |
5059 | 79 | D/E | 162 | rs74607159 | 0.5837 | None | gnomAD-3.1.2 | 6.57E-06 | |
5059 | 79 | D/E | 162 | rs74607159 | 0.5837 | None | gnomAD-4.0.0 | 6.57142E-06 | |
5059 | 79 | D/G | 162 | rs1422502789 | 0.5837 | None | gnomAD-2.1.1 | 4.02E-06 | |
5059 | 79 | D/N | 162 | rs770418360 | 0.5837 | None | gnomAD-2.1.1 | 7.24E-05 | |
5059 | 79 | D/N | 162 | rs770418360 | 0.5837 | None | gnomAD-3.1.2 | 1.97E-05 | |
5059 | 79 | D/N | 162 | rs770418360 | 0.5837 | None | gnomAD-4.0.0 | 2.94992E-05 | |
5060 | 80 | V/I | 163 | rs72648929 | 0.2489 | None | gnomAD-2.1.1 | 2.50423E-03 | |
5060 | 80 | V/I | 163 | rs72648929 | 0.2489 | None | gnomAD-3.1.2 | 9.66101E-04 | |
5060 | 80 | V/I | 163 | rs72648929 | 0.2489 | None | 1000 genomes | 4.39297E-03 | |
5060 | 80 | V/I | 163 | rs72648929 | 0.2489 | None | gnomAD-4.0.0 | 9.22373E-04 | |
5060 | 80 | V/L | 163 | rs72648929 | 0.2489 | None | gnomAD-2.1.1 | 3.20085E-03 | |
5060 | 80 | V/L | 163 | rs72648929 | 0.2489 | None | gnomAD-3.1.2 | 2.35282E-03 | |
5060 | 80 | V/L | 163 | rs72648929 | 0.2489 | None | 1000 genomes | 3.39457E-03 | |
5060 | 80 | V/L | 163 | rs72648929 | 0.2489 | None | gnomAD-4.0.0 | 3.17871E-03 | |
5061 | 81 | G/C | 164 | rs1441268700 | 0.2331 | None | gnomAD-3.1.2 | 6.57E-06 | |
5061 | 81 | G/C | 164 | rs1441268700 | 0.2331 | None | gnomAD-4.0.0 | 1.85989E-06 | |
5061 | 81 | G/S | 164 | rs1441268700 | 0.2331 | None | gnomAD-2.1.1 | 6.37E-05 | |
5061 | 81 | G/S | 164 | rs1441268700 | 0.2331 | None | gnomAD-3.1.2 | 3.29E-05 | |
5061 | 81 | G/S | 164 | rs1441268700 | 0.2331 | None | gnomAD-4.0.0 | 8.6795E-06 | |
5062 | 82 | S/G | 165 | rs778610579 | 0.4163 | None | gnomAD-2.1.1 | 2.5E-05 | |
5062 | 82 | S/G | 165 | rs778610579 | 0.4163 | None | gnomAD-4.0.0 | 1.11529E-05 | |
5062 | 82 | S/I | 165 | rs371687650 | 0.4163 | None | gnomAD-2.1.1 | 4.03E-06 | |
5062 | 82 | S/I | 165 | rs371687650 | 0.4163 | None | gnomAD-3.1.2 | 2.63E-05 | |
5062 | 82 | S/I | 165 | rs371687650 | 0.4163 | None | gnomAD-4.0.0 | 6.20027E-06 | |
5062 | 82 | S/N | 165 | rs371687650 | 0.4163 | None | gnomAD-2.1.1 | 7.86E-05 | |
5062 | 82 | S/N | 165 | rs371687650 | 0.4163 | None | gnomAD-3.1.2 | 3.29E-05 | |
5062 | 82 | S/N | 165 | rs371687650 | 0.4163 | None | gnomAD-4.0.0 | 3.03813E-05 | |
5064 | 84 | S/N | 168 | None | 0.3934 | None | gnomAD-4.0.0 | 3.60097E-06 | |
5066 | 86 | S/G | 171 | rs756793304 | 0.5255 | None | gnomAD-2.1.1 | 1.79E-05 | |
5066 | 86 | S/G | 171 | rs756793304 | 0.5255 | None | gnomAD-3.1.2 | 2.63E-05 | |
5066 | 86 | S/G | 171 | rs756793304 | 0.5255 | None | gnomAD-4.0.0 | 4.96147E-05 | |
5067 | 87 | T/I | 172 | rs1560840708 | 0.1203 | None | gnomAD-2.1.1 | 4.03E-06 | |
5067 | 87 | T/I | 172 | rs1560840708 | 0.1203 | None | gnomAD-3.1.2 | 6.57E-06 | |
5067 | 87 | T/I | 172 | rs1560840708 | 0.1203 | None | gnomAD-4.0.0 | 1.11672E-05 | |
5068 | 88 | E/G | 173 | None | 0.6039 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5070 | 90 | V/L | 175 | None | 0.3216 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5071 | 91 | I/T | 177 | None | 0.0857 | None | gnomAD-4.0.0 | 2.75503E-06 | |
5071 | 91 | I/V | 177 | rs777480345 | 0.0857 | None | gnomAD-2.1.1 | 1.22E-05 | |
5071 | 91 | I/V | 177 | rs777480345 | 0.0857 | None | gnomAD-3.1.2 | 6.57E-06 | |
5071 | 91 | I/V | 177 | rs777480345 | 0.0857 | None | gnomAD-4.0.0 | 1.2468E-05 |