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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
28056 | 2 | P/A | 2 | None | 0.1091 | None | gnomAD-4.0.0 | 1.59315E-06 | |
28056 | 2 | P/Q | 2 | None | 0.1091 | None | gnomAD-4.0.0 | 1.59324E-06 | |
28057 | 3 | G/R | 3 | rs1219669291 | 0.2416 | None | gnomAD-2.1.1 | 4.03E-06 | |
28057 | 3 | G/R | 3 | rs1219669291 | 0.2416 | None | gnomAD-4.0.0 | 3.1863E-06 | |
28058 | 4 | P/R | 4 | rs1293214241 | 0.4037 | None | gnomAD-2.1.1 | 4.03E-06 | |
28058 | 4 | P/R | 4 | rs1293214241 | 0.4037 | None | gnomAD-4.0.0 | 3.18617E-06 | |
28058 | 4 | P/S | 4 | None | 0.4037 | None | gnomAD-4.0.0 | 1.59313E-06 | |
28059 | 5 | P/A | 5 | rs1228328567 | 0.1303 | None | gnomAD-2.1.1 | 4.03E-06 | |
28059 | 5 | P/A | 5 | rs1228328567 | 0.1303 | None | gnomAD-4.0.0 | 3.1859E-06 | |
28060 | 6 | G/D | 6 | rs758626435 | 0.2570 | None | gnomAD-2.1.1 | 7.16E-06 | |
28060 | 6 | G/D | 6 | rs758626435 | 0.2570 | None | gnomAD-3.1.2 | 3.94E-05 | |
28060 | 6 | G/D | 6 | rs758626435 | 0.2570 | None | gnomAD-4.0.0 | 1.02573E-05 | |
28061 | 7 | P/L | 7 | None | 0.8678 | None | gnomAD-4.0.0 | 1.36899E-06 | |
28061 | 7 | P/S | 7 | rs373806358 | 0.8678 | None | gnomAD-4.0.0 | 1.36898E-06 | |
28061 | 7 | P/T | 7 | rs373806358 | 0.8678 | None | gnomAD-2.1.1 | 4.03E-06 | |
28061 | 7 | P/T | 7 | rs373806358 | 0.8678 | None | gnomAD-3.1.2 | 6.57E-06 | |
28061 | 7 | P/T | 7 | rs373806358 | 0.8678 | None | gnomAD-4.0.0 | 3.7196E-06 | |
28062 | 8 | I/T | 9 | rs750669319 | 0.1572 | None | gnomAD-2.1.1 | 8.07E-06 | |
28062 | 8 | I/T | 9 | rs750669319 | 0.1572 | None | gnomAD-4.0.0 | 4.77742E-06 | |
28063 | 9 | R/C | 11 | rs539595292 | 0.4807 | None | gnomAD-2.1.1 | 2.51E-05 | |
28063 | 9 | R/C | 11 | rs539595292 | 0.4807 | None | gnomAD-3.1.2 | 1.97E-05 | |
28063 | 9 | R/C | 11 | rs539595292 | 0.4807 | None | 1000 genomes | 1.99681E-04 | |
28063 | 9 | R/C | 11 | rs539595292 | 0.4807 | None | gnomAD-4.0.0 | 1.42571E-05 | |
28063 | 9 | R/H | 11 | rs570847832 | 0.4807 | None | gnomAD-2.1.1 | 8.47E-05 | |
28063 | 9 | R/H | 11 | rs570847832 | 0.4807 | None | gnomAD-3.1.2 | 3.29E-05 | |
28063 | 9 | R/H | 11 | rs570847832 | 0.4807 | None | 1000 genomes | 1.99681E-04 | |
28063 | 9 | R/H | 11 | rs570847832 | 0.4807 | None | gnomAD-4.0.0 | 6.13723E-05 | |
28064 | 10 | I/T | 12 | rs1366264826 | 0.2777 | None | gnomAD-2.1.1 | 1.21E-05 | |
28064 | 10 | I/T | 12 | rs1366264826 | 0.2777 | None | gnomAD-4.0.0 | 3.42178E-06 | |
28065 | 11 | D/E | 13 | rs2154160302 | 0.3927 | None | gnomAD-3.1.2 | 6.57E-06 | |
28065 | 11 | D/E | 13 | rs2154160302 | 0.3927 | None | gnomAD-4.0.0 | 6.56676E-06 | |
28065 | 11 | D/H | 13 | rs764469970 | 0.3927 | None | gnomAD-2.1.1 | 2.82E-05 | |
28065 | 11 | D/H | 13 | rs764469970 | 0.3927 | None | gnomAD-3.1.2 | 6.57E-06 | |
28065 | 11 | D/H | 13 | rs764469970 | 0.3927 | None | gnomAD-4.0.0 | 1.91621E-05 | |
28066 | 12 | E/K | 14 | rs1703825463 | 0.6313 | None | gnomAD-4.0.0 | 2.05312E-06 | |
28068 | 14 | S/T | 16 | rs72648219 | 0.1169 | None | gnomAD-2.1.1 | 5.01E-05 | |
28068 | 14 | S/T | 16 | rs72648219 | 0.1169 | None | gnomAD-3.1.2 | 1.77438E-04 | |
28068 | 14 | S/T | 16 | rs72648219 | 0.1169 | None | gnomAD-4.0.0 | 2.54116E-05 | |
28070 | 16 | D/N | 18 | None | 0.4415 | None | gnomAD-4.0.0 | 6.84334E-07 | |
28071 | 17 | S/N | 19 | rs1489303376 | 0.1281 | None | gnomAD-2.1.1 | 3.19E-05 | |
28071 | 17 | S/R | 19 | rs1169451357 | 0.1281 | None | gnomAD-2.1.1 | 4.03E-06 | |
28071 | 17 | S/R | 19 | rs1169451357 | 0.1281 | None | gnomAD-4.0.0 | 1.59194E-06 | |
28072 | 18 | I/K | 20 | rs1475606876 | 0.0740 | None | gnomAD-2.1.1 | 4.03E-06 | |
28072 | 18 | I/K | 20 | rs1475606876 | 0.0740 | None | gnomAD-4.0.0 | 1.36865E-06 | |
28072 | 18 | I/V | 20 | None | 0.0740 | None | gnomAD-4.0.0 | 2.05298E-06 | |
28074 | 20 | I/V | 22 | rs1202396763 | 0.0771 | None | gnomAD-3.1.2 | 6.57E-06 | |
28074 | 20 | I/V | 22 | rs1202396763 | 0.0771 | None | gnomAD-4.0.0 | 6.57099E-06 | |
28080 | 26 | E/A | 28 | None | 1.1231 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28080 | 26 | E/Q | 28 | rs1198142735 | 1.1231 | None | gnomAD-3.1.2 | 6.57E-06 | |
28080 | 26 | E/Q | 28 | rs1198142735 | 1.1231 | None | gnomAD-4.0.0 | 2.5629E-06 | |
28081 | 27 | Y/S | 29 | None | 0.2947 | None | gnomAD-4.0.0 | 1.59178E-06 | |
28082 | 28 | D/N | 30 | None | 0.2772 | None | gnomAD-4.0.0 | 6.84315E-07 | |
28083 | 29 | G/S | 31 | None | 0.0671 | None | gnomAD-4.0.0 | 4.80129E-06 | |
28083 | 29 | G/V | 31 | None | 0.0671 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28084 | 30 | G/S | 32 | rs547578610 | 0.2624 | None | gnomAD-2.1.1 | 2.42E-05 | |
28084 | 30 | G/S | 32 | rs547578610 | 0.2624 | None | gnomAD-3.1.2 | 1.97E-05 | |
28084 | 30 | G/S | 32 | rs547578610 | 0.2624 | None | 1000 genomes | 5.99042E-04 | |
28084 | 30 | G/S | 32 | rs547578610 | 0.2624 | None | gnomAD-4.0.0 | 7.68748E-06 | |
28085 | 31 | C/R | 33 | rs2154160212 | 0.1845 | None | gnomAD-3.1.2 | 6.57E-06 | |
28085 | 31 | C/R | 33 | rs2154160212 | 0.1845 | None | gnomAD-4.0.0 | 6.56573E-06 | |
28085 | 31 | C/Y | 33 | None | 0.1845 | None | gnomAD-4.0.0 | 1.59181E-06 | |
28088 | 34 | S/N | 36 | rs200450022 | 0.3662 | None | gnomAD-2.1.1 | 5.93633E-04 | |
28088 | 34 | S/N | 36 | rs200450022 | 0.3662 | None | gnomAD-3.1.2 | 6.11199E-04 | |
28088 | 34 | S/N | 36 | rs200450022 | 0.3662 | None | 1000 genomes | 5.99042E-04 | |
28088 | 34 | S/N | 36 | rs200450022 | 0.3662 | None | gnomAD-4.0.0 | 1.23634E-03 | |
28088 | 34 | S/T | 36 | rs200450022 | 0.3662 | None | gnomAD-4.0.0 | 6.84295E-07 | |
28089 | 35 | N/S | 37 | None | 0.1711 | None | gnomAD-4.0.0 | 2.40064E-06 | |
28091 | 37 | I/T | 39 | None | 0.1242 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28091 | 37 | I/V | 39 | rs886042615 | 0.1242 | None | gnomAD-2.1.1 | 4.03E-06 | |
28091 | 37 | I/V | 39 | rs886042615 | 0.1242 | None | gnomAD-3.1.2 | 6.57E-06 | |
28091 | 37 | I/V | 39 | rs886042615 | 0.1242 | None | gnomAD-4.0.0 | 3.71847E-06 | |
28092 | 38 | V/D | 40 | None | 0.0892 | None | gnomAD-4.0.0 | 6.8428E-07 | |
28092 | 38 | V/G | 40 | rs761184333 | 0.0892 | None | gnomAD-2.1.1 | 4.03E-06 | |
28092 | 38 | V/G | 40 | rs761184333 | 0.0892 | None | gnomAD-3.1.2 | 1.31E-05 | |
28092 | 38 | V/G | 40 | rs761184333 | 0.0892 | None | gnomAD-4.0.0 | 3.09873E-06 | |
28092 | 38 | V/I | 40 | None | 0.0892 | None | gnomAD-4.0.0 | 1.59168E-06 | |
28092 | 38 | V/L | 40 | None | 0.0892 | None | gnomAD-4.0.0 | 1.59168E-06 | |
28094 | 40 | K/N | 42 | rs746801951 | 0.2226 | None | gnomAD-2.1.1 | 4.03E-06 | |
28094 | 40 | K/N | 42 | rs746801951 | 0.2226 | None | gnomAD-4.0.0 | 1.59168E-06 | |
28094 | 40 | K/R | 42 | None | 0.2226 | None | gnomAD-4.0.0 | 3.18337E-06 | |
28097 | 43 | T/A | 50 | None | 0.2998 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28098 | 44 | T/I | 54 | rs746141297 | 0.8132 | None | gnomAD-2.1.1 | 4.03E-06 | |
28098 | 44 | T/I | 54 | rs746141297 | 0.8132 | None | gnomAD-4.0.0 | 6.84296E-07 | |
28098 | 44 | T/N | 54 | rs746141297 | 0.8132 | None | gnomAD-2.1.1 | 4.03E-06 | |
28098 | 44 | T/N | 54 | rs746141297 | 0.8132 | None | gnomAD-4.0.0 | 1.36859E-06 | |
28100 | 46 | T/I | 63 | rs779244941 | 0.9693 | None | gnomAD-2.1.1 | 4.03E-06 | |
28100 | 46 | T/I | 63 | rs779244941 | 0.9693 | None | gnomAD-4.0.0 | 3.18338E-06 | |
28100 | 46 | T/K | 63 | None | 0.9693 | None | gnomAD-4.0.0 | 1.59169E-06 | |
28101 | 47 | T/I | 64 | rs1483336920 | 0.5000 | None | gnomAD-2.1.1 | 3.18E-05 | |
28101 | 47 | T/I | 64 | rs1483336920 | 0.5000 | None | gnomAD-3.1.2 | 1.31E-05 | |
28101 | 47 | T/I | 64 | rs1483336920 | 0.5000 | None | gnomAD-4.0.0 | 6.40658E-06 | |
28102 | 48 | W/C | 65 | rs1338535777 | 0.2206 | None | gnomAD-4.0.0 | 1.59169E-06 | |
28102 | 48 | W/R | 65 | rs1553565393 | 0.2206 | None | gnomAD-4.0.0 | 1.59163E-06 | |
28103 | 49 | H/Q | 66 | rs749278779 | 0.5467 | None | gnomAD-2.1.1 | 4.03E-06 | |
28103 | 49 | H/Q | 66 | rs749278779 | 0.5467 | None | gnomAD-3.1.2 | 6.57E-06 | |
28103 | 49 | H/Q | 66 | rs749278779 | 0.5467 | None | gnomAD-4.0.0 | 3.84412E-06 | |
28104 | 50 | I/V | 67 | rs778359308 | 0.4811 | None | gnomAD-2.1.1 | 4.03E-06 | |
28104 | 50 | I/V | 67 | rs778359308 | 0.4811 | None | gnomAD-4.0.0 | 3.18337E-06 | |
28108 | 54 | A/P | 75 | None | 0.5650 | None | gnomAD-4.0.0 | 6.84287E-07 | |
28108 | 54 | A/S | 75 | None | 0.5650 | None | gnomAD-4.0.0 | 6.84287E-07 | |
28109 | 55 | V/F | 77 | rs1173902848 | 0.1223 | None | gnomAD-2.1.1 | 4.03E-06 | |
28109 | 55 | V/F | 77 | rs1173902848 | 0.1223 | None | gnomAD-4.0.0 | 3.18337E-06 | |
28109 | 55 | V/I | 77 | None | 0.1223 | None | gnomAD-4.0.0 | 1.59168E-06 | |
28110 | 56 | A/S | 83 | None | 0.5928 | None | gnomAD-4.0.0 | 1.36858E-06 | |
28110 | 56 | A/T | 83 | None | 0.5928 | None | gnomAD-4.0.0 | 6.84288E-07 | |
28111 | 57 | R/K | 88 | rs1060500463 | 0.8138 | None | gnomAD-4.0.0 | 3.1835E-06 | |
28112 | 58 | T/I | 89 | rs1429490203 | 0.2023 | None | gnomAD-2.1.1 | 4.03E-06 | |
28112 | 58 | T/I | 89 | rs1429490203 | 0.2023 | None | gnomAD-3.1.2 | 6.57E-06 | |
28112 | 58 | T/I | 89 | rs1429490203 | 0.2023 | None | gnomAD-4.0.0 | 3.71853E-06 | |
28112 | 58 | T/K | 89 | None | 0.2023 | None | gnomAD-4.0.0 | 6.84286E-07 | |
28113 | 59 | S/F | 90 | rs753201539 | 0.3277 | None | gnomAD-2.1.1 | 4.03E-06 | |
28113 | 59 | S/F | 90 | rs753201539 | 0.3277 | None | gnomAD-4.0.0 | 1.02644E-05 | |
28113 | 59 | S/T | 90 | None | 0.3277 | None | gnomAD-4.0.0 | 1.59172E-06 | |
28113 | 59 | S/Y | 90 | rs753201539 | 0.3277 | None | gnomAD-2.1.1 | 4.03E-06 | |
28114 | 60 | I/V | 91 | rs1703767853 | 0.1896 | None | gnomAD-3.1.2 | 6.57E-06 | |
28114 | 60 | I/V | 91 | rs1703767853 | 0.1896 | None | gnomAD-4.0.0 | 3.09873E-06 | |
28116 | 62 | I/T | 93 | rs1468127080 | 0.1064 | None | gnomAD-2.1.1 | 4.03E-06 | |
28116 | 62 | I/T | 93 | rs1468127080 | 0.1064 | None | gnomAD-3.1.2 | 6.57E-06 | |
28116 | 62 | I/T | 93 | rs1468127080 | 0.1064 | None | gnomAD-4.0.0 | 5.57783E-06 | |
28117 | 63 | V/A | 94 | None | 0.4525 | None | gnomAD-4.0.0 | 1.5917E-06 | |
28117 | 63 | V/F | 94 | None | 0.4525 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28118 | 64 | R/C | 96 | rs56057221 | 0.8340 | None | gnomAD-2.1.1 | 6.02293E-03 | |
28118 | 64 | R/C | 96 | rs56057221 | 0.8340 | None | gnomAD-3.1.2 | 1.80138E-02 | |
28118 | 64 | R/C | 96 | rs56057221 | 0.8340 | None | 1000 genomes | 1.61741E-02 | |
28118 | 64 | R/C | 96 | rs56057221 | 0.8340 | None | gnomAD-4.0.0 | 3.41543E-03 | |
28118 | 64 | R/G | 96 | None | 0.8340 | None | gnomAD-4.0.0 | 3.42152E-06 | |
28118 | 64 | R/H | 96 | rs72648220 | 0.8340 | None | gnomAD-2.1.1 | 3.63E-05 | |
28118 | 64 | R/H | 96 | rs72648220 | 0.8340 | None | gnomAD-3.1.2 | 5.26E-05 | |
28118 | 64 | R/H | 96 | rs72648220 | 0.8340 | None | 1000 genomes | 1.99681E-04 | |
28118 | 64 | R/H | 96 | rs72648220 | 0.8340 |
DCM |
Literature | None | |
28118 | 64 | R/H | 96 | rs72648220 | 0.8340 | None | gnomAD-4.0.0 | 1.85924E-05 | |
28118 | 64 | R/L | 96 | rs72648220 | 0.8340 | None | gnomAD-2.1.1 | 2.15E-05 | |
28118 | 64 | R/L | 96 | rs72648220 | 0.8340 | None | gnomAD-3.1.2 | 2.63E-05 | |
28118 | 64 | R/L | 96 | rs72648220 | 0.8340 | None | gnomAD-4.0.0 | 1.23959E-05 | |
28118 | 64 | R/P | 96 | None | 0.8340 | None | gnomAD-4.0.0 | 6.84312E-07 | |
28119 | 65 | L/P | 97 | rs1461216101 | 0.1179 | None | gnomAD-2.1.1 | 4.03E-06 | |
28119 | 65 | L/P | 97 | rs1461216101 | 0.1179 | None | gnomAD-4.0.0 | 1.59173E-06 | |
28120 | 66 | T/I | 98 | None | 0.4970 | None | gnomAD-4.0.0 | 1.36861E-06 | |
28120 | 66 | T/K | 98 | rs1261670625 | 0.4970 | None | gnomAD-2.1.1 | 4.03E-06 | |
28120 | 66 | T/K | 98 | rs1261670625 | 0.4970 | None | gnomAD-4.0.0 | 2.60035E-05 | |
28121 | 67 | T/I | 99 | None | 0.5258 | None | gnomAD-4.0.0 | 6.843E-07 | |
28121 | 67 | T/K | 99 | rs397517726 | 0.5258 | None | gnomAD-2.1.1 | 2.15E-05 | |
28121 | 67 | T/K | 99 | rs397517726 | 0.5258 | None | gnomAD-3.1.2 | 4.6E-05 | |
28121 | 67 | T/K | 99 | rs397517726 | 0.5258 | None | gnomAD-4.0.0 | 1.05359E-05 | |
28121 | 67 | T/R | 99 | rs397517726 | 0.5258 | None | gnomAD-2.1.1 | 4.03E-06 | |
28121 | 67 | T/R | 99 | rs397517726 | 0.5258 | None | gnomAD-3.1.2 | 6.57E-06 | |
28121 | 67 | T/R | 99 | rs397517726 | 0.5258 | None | gnomAD-4.0.0 | 1.23942E-06 | |
28122 | 68 | G/R | 100 | rs371768793 | 0.3981 | None | gnomAD-2.1.1 | 4.03E-06 | |
28122 | 68 | G/R | 100 | rs371768793 | 0.3981 | None | gnomAD-3.1.2 | 6.57E-06 | |
28122 | 68 | G/R | 100 | rs371768793 | 0.3981 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28122 | 68 | G/V | 100 | rs1340329525 | 0.3981 | None | gnomAD-2.1.1 | 3.19E-05 | |
28122 | 68 | G/V | 100 | rs1340329525 | 0.3981 | None | gnomAD-3.1.2 | 6.57E-06 | |
28122 | 68 | G/V | 100 | rs1340329525 | 0.3981 | None | gnomAD-4.0.0 | 6.5716E-06 | |
28123 | 69 | S/N | 102 | rs1703752029 | 0.1742 | None | gnomAD-4.0.0 | 6.84307E-07 | |
28124 | 70 | E/K | 103 | rs1295072546 | 0.2952 | None | gnomAD-2.1.1 | 3.19E-05 | |
28124 | 70 | E/K | 103 | rs1295072546 | 0.2952 | None | gnomAD-4.0.0 | 1.36864E-06 | |
28125 | 71 | Y/C | 104 | rs763653948 | 0.0949 | None | gnomAD-2.1.1 | 4.03E-06 | |
28125 | 71 | Y/C | 104 | rs763653948 | 0.0949 | None | gnomAD-4.0.0 | 1.59183E-06 | |
28128 | 74 | R/C | 107 | rs1375604948 | 0.1051 | None | gnomAD-3.1.2 | 6.57E-06 | |
28128 | 74 | R/C | 107 | rs1375604948 | 0.1051 | None | gnomAD-4.0.0 | 1.23969E-05 | |
28128 | 74 | R/G | 107 | rs1375604948 | 0.1051 | None | gnomAD-2.1.1 | 4.03E-06 | |
28128 | 74 | R/G | 107 | rs1375604948 | 0.1051 | None | gnomAD-4.0.0 | 6.84391E-07 | |
28128 | 74 | R/H | 107 | rs367596354 | 0.1051 | None | gnomAD-2.1.1 | 8.07E-06 | |
28128 | 74 | R/H | 107 | rs367596354 | 0.1051 | None | gnomAD-3.1.2 | 4.6E-05 | |
28128 | 74 | R/H | 107 | rs367596354 | 0.1051 | None | gnomAD-4.0.0 | 1.05377E-05 | |
28129 | 75 | V/D | 108 | None | 0.0720 | None | gnomAD-4.0.0 | 1.59238E-06 | |
28129 | 75 | V/F | 108 | rs752974639 | 0.0720 | None | gnomAD-2.1.1 | 4.3E-05 | |
28129 | 75 | V/F | 108 | rs752974639 | 0.0720 | None | gnomAD-3.1.2 | 3.28E-05 | |
28129 | 75 | V/F | 108 | rs752974639 | 0.0720 | None | gnomAD-4.0.0 | 7.06613E-05 | |
28130 | 76 | C/R | 109 | None | 0.0648 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28130 | 76 | C/W | 109 | None | 0.0648 | None | gnomAD-4.0.0 | 6.84538E-07 | |
28131 | 77 | A/T | 110 | None | 0.0753 | None | gnomAD-4.0.0 | 6.84604E-07 | |
28133 | 79 | N/S | 112 | rs727505053 | 0.0920 | None | gnomAD-2.1.1 | 7.17E-06 | |
28133 | 79 | N/S | 112 | rs727505053 | 0.0920 | None | gnomAD-3.1.2 | 6.57E-06 | |
28133 | 79 | N/S | 112 | rs727505053 | 0.0920 | None | gnomAD-4.0.0 | 9.92366E-06 | |
28134 | 80 | R/C | 113 | rs771002170 | 0.7522 | None | gnomAD-2.1.1 | 3.94E-05 | |
28134 | 80 | R/C | 113 | rs771002170 | 0.7522 | None | gnomAD-3.1.2 | 1.31E-05 | |
28134 | 80 | R/C | 113 | rs771002170 | 0.7522 | None | gnomAD-4.0.0 | 1.67469E-05 | |
28134 | 80 | R/H | 113 | rs777785413 | 0.7522 | None | gnomAD-2.1.1 | 1.21E-05 | |
28134 | 80 | R/H | 113 | rs777785413 | 0.7522 | None | gnomAD-3.1.2 | 6.57E-06 | |
28134 | 80 | R/H | 113 | rs777785413 | 0.7522 | None | gnomAD-4.0.0 | 6.82345E-06 | |
28134 | 80 | R/L | 113 | rs777785413 | 0.7522 | None | gnomAD-2.1.1 | 8.08E-06 | |
28134 | 80 | R/L | 113 | rs777785413 | 0.7522 | None | gnomAD-3.1.2 | 6.57E-06 | |
28134 | 80 | R/L | 113 | rs777785413 | 0.7522 | None | gnomAD-4.0.0 | 5.58282E-06 | |
28135 | 81 | Y/C | 114 | None | 0.3414 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28136 | 82 | G/R | 115 | rs879234686 | 0.1987 | None | gnomAD-2.1.1 | 3.18E-05 | |
28136 | 82 | G/R | 115 | rs879234686 | 0.1987 | None | gnomAD-3.1.2 | 1.31E-05 | |
28136 | 82 | G/R | 115 | rs879234686 | 0.1987 | None | gnomAD-4.0.0 | 1.31427E-05 | |
28137 | 83 | K/E | 117 | None | 0.4081 | None | gnomAD-4.0.0 | 2.04055E-05 | |
28137 | 83 | K/M | 117 | None | 0.4081 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28138 | 84 | S/N | 118 | rs975160153 | 0.1089 | None | gnomAD-2.1.1 | 8.1E-06 | |
28138 | 84 | S/N | 118 | rs975160153 | 0.1089 | None | gnomAD-4.0.0 | 4.79356E-06 | |
28140 | 86 | Y/C | 120 | None | 0.3255 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28140 | 86 | Y/H | 120 | rs1703729439 | 0.3255 | None | gnomAD-4.0.0 | 1.59848E-06 | |
28141 | 87 | S/G | 121 | None | 0.1735 | None | gnomAD-4.0.0 | 2.74299E-06 | |
28141 | 87 | S/I | 121 | rs748707866 | 0.1735 | None | gnomAD-3.1.2 | 6.57E-06 | |
28141 | 87 | S/I | 121 | rs748707866 | 0.1735 | None | gnomAD-4.0.0 | 6.57022E-06 | |
28141 | 87 | S/R | 121 | None | 0.1735 | None | gnomAD-4.0.0 | 1.60286E-06 | |
28141 | 87 | S/T | 121 | rs748707866 | 0.1735 | None | gnomAD-2.1.1 | 1.62E-05 | |
28141 | 87 | S/T | 121 | rs748707866 | 0.1735 | None | gnomAD-4.0.0 | 6.40158E-06 | |
28143 | 89 | S/F | 123 | rs878971321 | 0.1892 | None | gnomAD-3.1.2 | 6.57E-06 | |
28143 | 89 | S/F | 123 | rs878971321 | 0.1892 | None | gnomAD-4.0.0 | 6.57039E-06 | |
28145 | 91 | A/V | 126 | rs765357961 | 0.3107 | None | gnomAD-2.1.1 | 4.07E-06 | |
28145 | 91 | A/V | 126 | rs765357961 | 0.3107 | None | gnomAD-3.1.2 | 2.63E-05 | |
28145 | 91 | A/V | 126 | rs765357961 | 0.3107 | None | gnomAD-4.0.0 | 2.23817E-05 | |
28146 | 92 | V/A | 127 | rs755354570 | 0.1902 | None | gnomAD-2.1.1 | 1.09E-05 | |
28146 | 92 | V/A | 127 | rs755354570 | 0.1902 | None | gnomAD-3.1.2 | 2.63E-05 | |
28146 | 92 | V/A | 127 | rs755354570 | 0.1902 | None | gnomAD-4.0.0 | 3.29632E-05 | |
28146 | 92 | V/I | 127 | rs371366196 | 0.1902 | None | gnomAD-2.1.1 | 4.7E-05 | |
28146 | 92 | V/I | 127 | rs371366196 | 0.1902 | None | gnomAD-3.1.2 | 5.26E-05 | |
28146 | 92 | V/I | 127 | rs371366196 | 0.1902 | None | gnomAD-4.0.0 | 7.02819E-05 | |
28147 | 93 | V/A | 128 | rs1285081649 | 0.2826 | None | gnomAD-2.1.1 | 4.08E-06 | |
28147 | 93 | V/A | 128 | rs1285081649 | 0.2826 | None | gnomAD-4.0.0 | 2.0612E-06 | |
28147 | 93 | V/F | 128 | rs1318887192 | 0.2826 | None | gnomAD-2.1.1 | 4.09E-06 | |
28147 | 93 | V/F | 128 | rs1318887192 | 0.2826 | None | gnomAD-4.0.0 | 1.60743E-06 | |
28147 | 93 | V/L | 128 | None | 0.2826 | None | gnomAD-4.0.0 | 1.60743E-06 | |
28148 | 94 | A/G | 130 | rs751860205 | 0.0667 | None | gnomAD-2.1.1 | 8.18E-06 | |
28148 | 94 | A/G | 130 | rs751860205 | 0.0667 | None | gnomAD-3.1.2 | 6.57E-06 | |
28148 | 94 | A/G | 130 | rs751860205 | 0.0667 | None | gnomAD-4.0.0 | 4.35482E-06 | |
28148 | 94 | A/T | 130 | rs1703714627 | 0.0667 | None | gnomAD-4.0.0 | 1.60799E-06 | |
28148 | 94 | A/V | 130 | rs751860205 | 0.0667 | None | gnomAD-2.1.1 | 3.18E-05 | |
28148 | 94 | A/V | 130 | rs751860205 | 0.0667 | None | gnomAD-3.1.2 | 6.57E-06 | |
28148 | 94 | A/V | 130 | rs751860205 | 0.0667 | None | gnomAD-4.0.0 | 6.57117E-06 | |
28150 | 96 | Y/C | 132 | None | 0.6466 | None | gnomAD-4.0.0 | 1.60752E-06 | |
28150 | 96 | Y/H | 132 | rs397517727 | 0.6466 | None | gnomAD-2.1.1 | 9.83E-05 | |
28150 | 96 | Y/H | 132 | rs397517727 | 0.6466 | None | gnomAD-3.1.2 | 1.31E-05 | |
28150 | 96 | Y/H | 132 | rs397517727 | 0.6466 | None | 1000 genomes | 3.99361E-04 | |
28150 | 96 | Y/H | 132 | rs397517727 | 0.6466 | None | gnomAD-4.0.0 | 3.73312E-05 |