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P | S | F | E | Q | T | P | D | S | V | E | V | L | P | G | M | S | L | T | F | T | S | V | I | R | G | T | P | P | F | K | V | K | W | F | K | G | S | R | E | L | V | P | G | E | S | C | N | I | S | L | E | D | F | V | T | E | L | E | L | F | E | V | Q | P | L | E | S | G | D | Y | S | C | L | V | T | N | D | A | G | S | A | S | C | T | T | H | L | F | V | K | E | P | A | T | F | V | K | R | L | A | D | F | S | V | E | T | G | S | P | I | V | L | E | A | T | Y | T | G | T | P | P | I | S | V | S | W | I | K | D | E | Y | L | I | S | Q | S | E | R | C | S | I | T | M | T | E | K | S | T | I | L | E | I | L | E | S | T | I | E | D | Y | A | Q | Y | S | C | L | I | E | N | E | A | G | Q | D | I | C | E | A | L | V | S | V | L |
P | S | F | E | Q | T | P | D | S | V | E | V | L | P | G | M | S | L | T | F | T | S | V | I | R | G | T | P | P | F | K | V | K | W | F | K | G | S | R | E | L | V | P | G | E | S | C | N | I | S | L | E | D | F | V | T | E | L | E | L | F | E | V | Q | P | L | E | S | G | D | Y | S | C | L | V | T | N | D | A | G | S | A | S | C | T | T | H | L | F | V | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
8078 | 1 | P/L | 1 | rs1419971092 | 0.2291 | None | gnomAD-3.1.2 | 6.58E-06 | |
8078 | 1 | P/Q | 1 | None | 0.2291 | None | gnomAD-4.0.0 | 1.62111E-06 | |
8078 | 1 | P/R | 1 | rs1419971092 | 0.2291 | None | gnomAD-3.1.2 | 6.58E-06 | |
8078 | 1 | P/R | 1 | rs1419971092 | 0.2291 | None | gnomAD-4.0.0 | 6.57704E-06 | |
8078 | 1 | P/S | 1 | rs750589456 | 0.2291 | None | gnomAD-4.0.0 | 1.37894E-06 | |
8078 | 1 | P/T | 1 | rs750589456 | 0.2291 | None | gnomAD-2.1.1 | 4.3E-06 | |
8078 | 1 | P/T | 1 | rs750589456 | 0.2291 | None | gnomAD-4.0.0 | 2.0684E-06 | |
8079 | 2 | S/F | 2 | None | 0.4012 | None | gnomAD-4.0.0 | 2.06633E-06 | |
8083 | 6 | T/S | 7 | None | 0.4828 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8084 | 7 | P/H | 8 | None | 0.1726 | None | gnomAD-4.0.0 | 1.60295E-06 | |
8085 | 8 | D/N | 9 | rs1553904192 | 0.9025 | None | gnomAD-4.0.0 | 1.60225E-06 | |
8085 | 8 | D/V | 9 | None | 0.9025 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8086 | 9 | S/F | 11 | rs754194524 | 0.3925 | None | gnomAD-2.1.1 | 7.29E-06 | |
8086 | 9 | S/F | 11 | rs754194524 | 0.3925 | None | gnomAD-3.1.2 | 6.57E-06 | |
8086 | 9 | S/F | 11 | rs754194524 | 0.3925 | None | gnomAD-4.0.0 | 1.49063E-05 | |
8087 | 10 | V/A | 13 | rs764391944 | 0.3330 | None | gnomAD-2.1.1 | 4.1E-06 | |
8087 | 10 | V/A | 13 | rs764391944 | 0.3330 | None | gnomAD-4.0.0 | 1.59778E-06 | |
8087 | 10 | V/E | 13 | None | 0.3330 | None | gnomAD-3.1.2 | 6.57E-06 | |
8087 | 10 | V/E | 13 | None | 0.3330 | None | gnomAD-4.0.0 | 6.57479E-06 | |
8087 | 10 | V/L | 13 | None | 0.3330 | None | gnomAD-4.0.0 | 6.85513E-07 | |
8087 | 10 | V/M | 13 | None | 0.3330 | None | gnomAD-4.0.0 | 6.85513E-07 | |
8088 | 11 | E/G | 14 | None | 0.5986 | None | gnomAD-4.0.0 | 6.85347E-07 | |
8089 | 12 | V/L | 16 | rs757252230 | 0.1695 | None | gnomAD-2.1.1 | 3.26E-05 | |
8089 | 12 | V/L | 16 | rs757252230 | 0.1695 | None | gnomAD-3.1.2 | 4.6E-05 | |
8089 | 12 | V/L | 16 | rs757252230 | 0.1695 | None | gnomAD-4.0.0 | 8.12931E-05 | |
8090 | 13 | L/F | 18 | None | 0.3616 | None | gnomAD-4.0.0 | 6.85156E-07 | |
8091 | 14 | P/A | 23 | None | 0.3376 | None | gnomAD-4.0.0 | 2.05539E-06 | |
8091 | 14 | P/L | 23 | rs1418085481 | 0.3376 | None | gnomAD-4.0.0 | 1.59558E-06 | |
8092 | 15 | G/E | 24 | None | 0.2802 | None | gnomAD-4.0.0 | 1.5952E-06 | |
8093 | 16 | M/T | 25 | rs773993718 | 0.3850 | None | gnomAD-2.1.1 | 4.06E-06 | |
8093 | 16 | M/T | 25 | rs773993718 | 0.3850 | None | gnomAD-4.0.0 | 1.59434E-06 | |
8094 | 17 | S/N | 26 | rs574161330 | 0.3838 | None | gnomAD-2.1.1 | 4.06E-06 | |
8094 | 17 | S/N | 26 | rs574161330 | 0.3838 | None | gnomAD-3.1.2 | 6.58E-06 | |
8094 | 17 | S/N | 26 | rs574161330 | 0.3838 | None | 1000 genomes | 1.99681E-04 | |
8094 | 17 | S/N | 26 | rs574161330 | 0.3838 | None | gnomAD-4.0.0 | 6.5716E-06 | |
8095 | 18 | L/V | 28 | rs2077909849 | 0.1955 | None | gnomAD-3.1.2 | 6.58E-06 | |
8095 | 18 | L/V | 28 | rs2077909849 | 0.1955 | None | gnomAD-4.0.0 | 6.5754E-06 | |
8096 | 19 | T/I | 29 | rs370271716 | 0.3566 | None | gnomAD-4.0.0 | 6.84548E-07 | |
8097 | 20 | F/L | 30 | rs762434465 | 0.1272 | None | gnomAD-2.1.1 | 8.09E-06 | |
8097 | 20 | F/L | 30 | rs762434465 | 0.1272 | None | gnomAD-4.0.0 | 4.77797E-06 | |
8098 | 21 | T/S | 31 | rs2077908653 | 0.3174 | None | gnomAD-3.1.2 | 6.58E-06 | |
8098 | 21 | T/S | 31 | rs2077908653 | 0.3174 | None | gnomAD-4.0.0 | 2.56414E-06 | |
8099 | 22 | S/G | 33 | None | 0.1018 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8099 | 22 | S/N | 33 | rs1194437921 | 0.1018 | None | gnomAD-4.0.0 | 1.36881E-06 | |
8099 | 22 | S/R | 33 | rs1289470566 | 0.1018 | None | gnomAD-2.1.1 | 3.19E-05 | |
8099 | 22 | S/R | 33 | rs1289470566 | 0.1018 | None | gnomAD-3.1.2 | 6.58E-06 | |
8099 | 22 | S/R | 33 | rs1289470566 | 0.1018 | None | gnomAD-4.0.0 | 2.56374E-06 | |
8101 | 24 | I/N | 35 | rs200423910 | 0.1057 | None | gnomAD-2.1.1 | 4.04E-06 | |
8101 | 24 | I/N | 35 | rs200423910 | 0.1057 | None | gnomAD-3.1.2 | 1.31E-05 | |
8101 | 24 | I/N | 35 | rs200423910 | 0.1057 | None | gnomAD-4.0.0 | 1.17767E-05 | |
8101 | 24 | I/T | 35 | rs200423910 | 0.1057 | None | gnomAD-2.1.1 | 8.07E-06 | |
8101 | 24 | I/T | 35 | rs200423910 | 0.1057 | None | gnomAD-4.0.0 | 5.47475E-06 | |
8102 | 25 | R/K | 38 | rs748064860 | 0.5129 | None | gnomAD-2.1.1 | 4.04E-06 | |
8102 | 25 | R/K | 38 | rs748064860 | 0.5129 | None | gnomAD-3.1.2 | 6.58E-06 | |
8102 | 25 | R/K | 38 | rs748064860 | 0.5129 | None | gnomAD-4.0.0 | 6.57514E-06 | |
8103 | 26 | G/S | 40 | None | 0.2896 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8104 | 27 | T/I | 41 | None | 0.7399 | None | gnomAD-4.0.0 | 1.59177E-06 | |
8105 | 28 | P/R | 42 | rs1215904654 | 0.4138 | None | gnomAD-2.1.1 | 4.03E-06 | |
8105 | 28 | P/R | 42 | rs1215904654 | 0.4138 | None | gnomAD-4.0.0 | 3.18352E-06 | |
8105 | 28 | P/S | 42 | None | 0.4138 | None | gnomAD-4.0.0 | 6.84299E-07 | |
8106 | 29 | P/L | 43 | None | 0.7414 | None | gnomAD-4.0.0 | 6.84299E-07 | |
8108 | 31 | K/E | 45 | rs776437978 | 0.7615 | None | gnomAD-2.1.1 | 1.21E-05 | |
8108 | 31 | K/E | 45 | rs776437978 | 0.7615 | None | gnomAD-3.1.2 | 6.58E-06 | |
8108 | 31 | K/E | 45 | rs776437978 | 0.7615 | None | gnomAD-4.0.0 | 4.33856E-06 | |
8108 | 31 | K/N | 45 | None | 0.7615 | None | gnomAD-4.0.0 | 6.8427E-07 | |
8109 | 32 | V/A | 46 | None | 0.2754 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8109 | 32 | V/I | 46 | rs2077903400 | 0.2754 | None | gnomAD-3.1.2 | 6.58E-06 | |
8109 | 32 | V/I | 46 | rs2077903400 | 0.2754 | None | gnomAD-4.0.0 | 2.56283E-06 | |
8114 | 37 | G/D | 51 | rs923868923 | 0.4217 | None | gnomAD-4.0.0 | 1.59143E-06 | |
8115 | 38 | S/I | 52 | None | 0.8538 | None | gnomAD-4.0.0 | 1.36847E-06 | |
8115 | 38 | S/N | 52 | rs397517506 | 0.8538 | None | gnomAD-2.1.1 | 8.86E-05 | |
8115 | 38 | S/N | 52 | rs397517506 | 0.8538 | None | gnomAD-3.1.2 | 3.94E-05 | |
8115 | 38 | S/N | 52 | rs397517506 | 0.8538 | None | gnomAD-4.0.0 | 4.64801E-05 | |
8117 | 40 | E/D | 56 | None | 0.2950 | None | gnomAD-4.0.0 | 1.59135E-06 | |
8118 | 41 | L/P | 58 | rs780410071 | 0.2153 | None | gnomAD-2.1.1 | 1.61E-05 | |
8118 | 41 | L/P | 58 | rs780410071 | 0.2153 | None | gnomAD-4.0.0 | 8.21065E-06 | |
8119 | 42 | V/A | 59 | rs758744997 | 0.6892 | None | gnomAD-2.1.1 | 2.14E-05 | |
8119 | 42 | V/A | 59 | rs758744997 | 0.6892 | None | gnomAD-3.1.2 | 6.58E-06 | |
8119 | 42 | V/A | 59 | rs758744997 | 0.6892 | None | gnomAD-4.0.0 | 8.96893E-06 | |
8119 | 42 | V/G | 59 | None | 0.6892 | None | gnomAD-4.0.0 | 1.59136E-06 | |
8119 | 42 | V/M | 59 | rs1232702196 | 0.6892 | None | gnomAD-2.1.1 | 4.03E-06 | |
8119 | 42 | V/M | 59 | rs1232702196 | 0.6892 | None | gnomAD-4.0.0 | 1.59136E-06 | |
8120 | 43 | P/L | 70 | None | 0.4784 | None | gnomAD-4.0.0 | 6.15809E-06 | |
8120 | 43 | P/S | 70 | rs745913661 | 0.4784 | None | gnomAD-2.1.1 | 4.83E-05 | |
8120 | 43 | P/S | 70 | rs745913661 | 0.4784 | None | gnomAD-4.0.0 | 3.2843E-05 | |
8121 | 44 | G/A | 73 | rs1394976705 | 0.4028 | None | gnomAD-2.1.1 | 4.03E-06 | |
8121 | 44 | G/A | 73 | rs1394976705 | 0.4028 | None | gnomAD-4.0.0 | 6.84222E-07 | |
8121 | 44 | G/E | 73 | None | 0.4028 | None | gnomAD-4.0.0 | 6.84222E-07 | |
8121 | 44 | G/R | 73 | rs778894201 | 0.4028 | None | gnomAD-2.1.1 | 4.03E-06 | |
8121 | 44 | G/R | 73 | rs778894201 | 0.4028 | None | gnomAD-4.0.0 | 1.59133E-06 | |
8122 | 45 | E/K | 102 | None | 1.0898 | None | gnomAD-4.0.0 | 1.59132E-06 | |
8122 | 45 | E/V | 102 | rs757736721 | 1.0898 | None | gnomAD-2.1.1 | 1.21E-05 | |
8122 | 45 | E/V | 102 | rs757736721 | 1.0898 | None | gnomAD-4.0.0 | 4.77386E-06 | |
8123 | 46 | S/L | 115 | rs879096365 | 0.5443 | None | gnomAD-2.1.1 | 8.05E-06 | |
8123 | 46 | S/L | 115 | rs879096365 | 0.5443 | None | gnomAD-3.1.2 | 1.31E-05 | |
8123 | 46 | S/L | 115 | rs879096365 | 0.5443 | None | gnomAD-4.0.0 | 9.2958E-06 | |
8123 | 46 | S/P | 115 | rs1407865752 | 0.5443 | None | gnomAD-2.1.1 | 4.03E-06 | |
8123 | 46 | S/P | 115 | rs1407865752 | 0.5443 | None | gnomAD-4.0.0 | 1.5913E-06 | |
8124 | 47 | C/R | 121 | rs1577966478 | 0.1401 | None | gnomAD-4.0.0 | 1.59129E-06 | |
8124 | 47 | C/Y | 121 | rs754319631 | 0.1401 | None | gnomAD-2.1.1 | 4.03E-06 | |
8124 | 47 | C/Y | 121 | rs754319631 | 0.1401 | None | gnomAD-4.0.0 | 7.52636E-06 | |
8125 | 48 | N/S | 122 | None | 0.4663 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8126 | 49 | I/V | 123 | rs764456853 | 0.2410 | None | gnomAD-2.1.1 | 8.05E-06 | |
8126 | 49 | I/V | 123 | rs764456853 | 0.2410 | None | gnomAD-4.0.0 | 1.16315E-05 | |
8128 | 51 | L/V | 127 | None | 0.4355 | None | gnomAD-4.0.0 | 1.59127E-06 | |
8132 | 55 | V/A | 135 | None | 0.3294 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8133 | 56 | T/A | 136 | rs2077893682 | 0.1256 | None | gnomAD-4.0.0 | 1.59126E-06 | |
8133 | 56 | T/I | 136 | rs765991142 | 0.1256 | None | gnomAD-2.1.1 | 3.22E-05 | |
8133 | 56 | T/I | 136 | rs765991142 | 0.1256 | None | gnomAD-3.1.2 | 1.31E-05 | |
8133 | 56 | T/I | 136 | rs765991142 | 0.1256 | None | gnomAD-4.0.0 | 3.71826E-06 | |
8133 | 56 | T/R | 136 | rs765991142 | 0.1256 | None | gnomAD-2.1.1 | 3.62E-05 | |
8133 | 56 | T/R | 136 | rs765991142 | 0.1256 | None | gnomAD-4.0.0 | 1.36843E-05 | |
8135 | 58 | L/M | 138 | rs762631646 | 0.0744 | None | gnomAD-2.1.1 | 4.02E-06 | |
8135 | 58 | L/M | 138 | rs762631646 | 0.0744 | None | gnomAD-4.0.0 | 1.59128E-06 | |
8135 | 58 | L/R | 138 | rs2077892519 | 0.0744 | None | gnomAD-3.1.2 | 6.57E-06 | |
8135 | 58 | L/R | 138 | rs2077892519 | 0.0744 | None | gnomAD-4.0.0 | 5.12441E-06 | |
8136 | 59 | E/G | 139 | None | 0.2956 | None | gnomAD-4.0.0 | 1.59127E-06 | |
8136 | 59 | E/Q | 139 | None | 0.2956 | None | gnomAD-4.0.0 | 3.60097E-06 | |
8138 | 61 | F/S | 141 | None | 0.2998 | None | gnomAD-4.0.0 | 1.36842E-06 | |
8139 | 62 | E/Q | 143 | rs1202623297 | 0.7713 | None | gnomAD-2.1.1 | 4.02E-06 | |
8139 | 62 | E/Q | 143 | rs1202623297 | 0.7713 | None | gnomAD-4.0.0 | 3.42108E-06 | |
8140 | 63 | V/M | 144 | rs377210838 | 0.1212 | None | gnomAD-2.1.1 | 4.02E-06 | |
8140 | 63 | V/M | 144 | rs377210838 | 0.1212 | None | gnomAD-4.0.0 | 1.36843E-06 | |
8141 | 64 | Q/R | 145 | rs2154299738 | 0.3151 | None | gnomAD-4.0.0 | 2.40064E-06 | |
8142 | 65 | P/S | 146 | None | 0.3247 | None | gnomAD-4.0.0 | 3.60097E-06 | |
8142 | 65 | P/T | 146 | rs990633841 | 0.3247 | None | gnomAD-3.1.2 | 1.32E-05 | |
8142 | 65 | P/T | 146 | rs990633841 | 0.3247 | None | gnomAD-4.0.0 | 3.04509E-06 | |
8143 | 66 | L/I | 148 | rs1274064527 | 1.0857 | None | gnomAD-2.1.1 | 4.02E-06 | |
8143 | 66 | L/I | 148 | rs1274064527 | 1.0857 | None | gnomAD-4.0.0 | 1.36843E-06 | |
8144 | 67 | E/A | 149 | rs16866465 | 0.3430 | None | gnomAD-2.1.1 | 1.75062E-01 | |
8144 | 67 | E/A | 149 | rs16866465 | 0.3430 | None | gnomAD-3.1.2 | 1.64715E-01 | |
8144 | 67 | E/A | 149 | rs16866465 | 0.3430 | None | 1000 genomes | 2.38818E-01 | |
8144 | 67 | E/A | 149 | rs16866465 | 0.3430 | None | gnomAD-4.0.0 | 1.63466E-01 | |
8144 | 67 | E/D | 149 | rs756559627 | 0.3430 | None | gnomAD-2.1.1 | 1.17847E-04 | |
8144 | 67 | E/D | 149 | rs756559627 | 0.3430 | None | gnomAD-3.1.2 | 3.94E-05 | |
8144 | 67 | E/D | 149 | rs756559627 | 0.3430 | None | gnomAD-4.0.0 | 1.14028E-04 | |
8144 | 67 | E/G | 149 | rs16866465 | 0.3430 | None | gnomAD-2.1.1 | 8.05E-06 | |
8144 | 67 | E/G | 149 | rs16866465 | 0.3430 | None | gnomAD-4.0.0 | 2.73688E-06 | |
8144 | 67 | E/K | 149 | rs761751961 | 0.3430 | None | gnomAD-2.1.1 | 4.02E-06 | |
8144 | 67 | E/K | 149 | rs761751961 | 0.3430 | None | gnomAD-3.1.2 | 6.57E-06 | |
8144 | 67 | E/K | 149 | rs761751961 | 0.3430 | None | gnomAD-4.0.0 | 5.12449E-06 | |
8145 | 68 | S/N | 151 | rs1560647433 | 0.2413 | None | gnomAD-2.1.1 | 4.02E-06 | |
8145 | 68 | S/N | 151 | rs1560647433 | 0.2413 | None | gnomAD-4.0.0 | 2.05264E-06 | |
8146 | 69 | G/R | 152 | None | 0.2589 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8147 | 70 | D/A | 153 | None | 0.5513 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8147 | 70 | D/E | 153 | None | 0.5513 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8147 | 70 | D/Y | 153 | None | 0.5513 | None | gnomAD-4.0.0 | 1.59131E-06 | |
8148 | 71 | Y/C | 154 | rs1236449802 | 0.1485 | None | gnomAD-2.1.1 | 4.02E-06 | |
8148 | 71 | Y/C | 154 | rs1236449802 | 0.1485 | None | gnomAD-4.0.0 | 4.10528E-06 | |
8148 | 71 | Y/N | 154 | None | 0.1485 | None | gnomAD-4.0.0 | 1.59133E-06 | |
8149 | 72 | S/F | 155 | None | 0.2189 | None | gnomAD-4.0.0 | 1.5913E-06 | |
8149 | 72 | S/P | 155 | None | 0.2189 | None | gnomAD-4.0.0 | 1.59129E-06 | |
8149 | 72 | S/Y | 155 | rs1278756355 | 0.2189 | None | gnomAD-2.1.1 | 4.02E-06 | |
8149 | 72 | S/Y | 155 | rs1278756355 | 0.2189 | None | gnomAD-4.0.0 | 1.5913E-06 | |
8152 | 75 | V/F | 158 | rs397517507 | 0.1095 | None | gnomAD-2.1.1 | 4.02E-06 | |
8152 | 75 | V/F | 158 | rs397517507 | 0.1095 | None | gnomAD-4.0.0 | 2.73688E-06 | |
8152 | 75 | V/I | 158 | rs397517507 | 0.1095 | None | gnomAD-2.1.1 | 5.36E-05 | |
8152 | 75 | V/I | 158 | rs397517507 | 0.1095 | None | gnomAD-3.1.2 | 5.26E-05 | |
8152 | 75 | V/I | 158 | rs397517507 | 0.1095 | None | gnomAD-4.0.0 | 4.52402E-05 | |
8152 | 75 | V/L | 158 | None | 0.1095 | None | gnomAD-4.0.0 | 6.84221E-07 | |
8153 | 76 | T/A | 159 | None | 0.2980 | None | gnomAD-4.0.0 | 1.59128E-06 | |
8154 | 77 | N/D | 161 | rs757293293 | 0.1992 | None | gnomAD-2.1.1 | 8.04E-06 | |
8154 | 77 | N/D | 161 | rs757293293 | 0.1992 | None | gnomAD-4.0.0 | 3.18254E-06 | |
8154 | 77 | N/S | 161 | rs749455191 | 0.1992 | None | gnomAD-2.1.1 | 4.02E-06 | |
8154 | 77 | N/S | 161 | rs749455191 | 0.1992 | None | gnomAD-4.0.0 | 2.73685E-06 | |
8156 | 79 | A/P | 163 | None | 0.7449 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8157 | 80 | G/S | 164 | rs753025964 | 0.2887 | None | gnomAD-2.1.1 | 8.05E-06 | |
8157 | 80 | G/S | 164 | rs753025964 | 0.2887 | None | gnomAD-4.0.0 | 1.64213E-05 | |
8157 | 80 | G/V | 164 | None | 0.2887 | None | gnomAD-4.0.0 | 1.59131E-06 | |
8158 | 81 | S/N | 165 | rs551835183 | 0.5762 | None | gnomAD-2.1.1 | 8.05E-06 | |
8158 | 81 | S/N | 165 | rs551835183 | 0.5762 | None | gnomAD-3.1.2 | 6.58E-06 | |
8158 | 81 | S/N | 165 | rs551835183 | 0.5762 | None | 1000 genomes | 1.99681E-04 | |
8158 | 81 | S/N | 165 | rs551835183 | 0.5762 | None | gnomAD-4.0.0 | 4.3378E-06 | |
8158 | 81 | S/R | 165 | rs1471384765 | 0.5762 | None | gnomAD-2.1.1 | 4.02E-06 | |
8158 | 81 | S/R | 165 | rs1471384765 | 0.5762 | None | gnomAD-4.0.0 | 3.18266E-06 | |
8159 | 82 | A/S | 166 | None | 0.1815 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8161 | 84 | C/Y | 169 | rs372143487 | 0.1428 | None | gnomAD-2.1.1 | 3.19E-05 | |
8161 | 84 | C/Y | 169 | rs372143487 | 0.1428 | None | gnomAD-3.1.2 | 2.63E-05 | |
8161 | 84 | C/Y | 169 | rs372143487 | 0.1428 | None | gnomAD-4.0.0 | 1.48737E-05 | |
8163 | 86 | T/I | 172 | rs1019848168 | 0.1056 | None | gnomAD-2.1.1 | 3.19E-05 | |
8163 | 86 | T/I | 172 | rs1019848168 | 0.1056 | None | gnomAD-3.1.2 | 1.31E-05 | |
8163 | 86 | T/I | 172 | rs1019848168 | 0.1056 | None | gnomAD-4.0.0 | 1.31446E-05 | |
8164 | 87 | H/D | 173 | rs367916657 | 0.5213 | None | gnomAD-2.1.1 | 4.03E-06 | |
8164 | 87 | H/D | 173 | rs367916657 | 0.5213 | None | gnomAD-4.0.0 | 2.73731E-06 | |
8164 | 87 | H/Q | 173 | None | 0.5213 | None | gnomAD-4.0.0 | 6.84376E-06 | |
8164 | 87 | H/Y | 173 | None | 0.5213 | None | gnomAD-4.0.0 | 1.36866E-06 | |
8165 | 88 | L/I | 174 | rs1060500582 | 0.1245 | None | gnomAD-3.1.2 | 6.58E-06 | |
8165 | 88 | L/I | 174 | rs1060500582 | 0.1245 | None | gnomAD-4.0.0 | 1.85968E-06 | |
8165 | 88 | L/P | 174 | None | 0.1245 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8165 | 88 | L/V | 174 | None | 0.1245 | None | gnomAD-4.0.0 | 6.844E-07 | |
8166 | 89 | F/L | 175 | None | 0.4436 | None | gnomAD-4.0.0 | 1.59266E-06 | |
8166 | 89 | F/S | 175 | None | 0.4436 | None | gnomAD-4.0.0 | 6.84458E-07 | |
8167 | 90 | V/M | 177 | None | 0.0793 | None | gnomAD-4.0.0 | 1.593E-06 |