10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
R | P | G | P | P | G | P | I | R | I | D | E | V | S | C | D | S | I | T | I | S | W | N | P | P | E | Y | D | G | G | C | Q | I | S | N | Y | I | V | E | K | K | E | T | T | S | T | T | W | H | I | V | S | Q | A | V | A | R | T | S | I | K | I | V | R | L | T | T | G | S | E | Y | Q | F | R | V | C | A | E | N | R | Y | G | K | S | S | Y | S | E | S | S | A | V | V | A | E | Y | P | F | S | P | P | G | P | P | G | T | P | K | V | V | H | A | T | K | S | T | M | L | V | T | W | Q | V | P | V | N | D | G | G | S | R | V | I | G | Y | H | L | E | Y | K | E | R | S | S | I | L | W | S | K | A | N | K | I | L | I | A | D | T | Q | M | K | V | S | G | L | D | E | G | L | M | Y | E | Y | R | V | Y | A | E | N | I | A | G | I | G | K | C | S | K | S | C | E | P | V | P | A | R | D | P |
R | P | G | P | P | G | P | I | R | I | D | E | V | S | C | D | S | I | T | I | S | W | N | P | P | E | Y | D | G | G | C | Q | I | S | N | Y | I | V | E | K | K | E | T | T | S | T | T | W | H | I | V | S | Q | A | V | A | R | T | S | I | K | I | V | R | L | T | T | G | S | E | Y | Q | F | R | V | C | A | E | N | R | Y | G | K | S | S | Y | S | E | S | S | A | V | V | A | E | Y | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
28056 | 2 | P/A | 2 | None | 0.1055 | None | gnomAD-4.0.0 | 1.59315E-06 | |
28056 | 2 | P/Q | 2 | None | 0.1055 | None | gnomAD-4.0.0 | 1.59324E-06 | |
28057 | 3 | G/R | 3 | rs1219669291 | 0.2069 | None | gnomAD-2.1.1 | 4.03E-06 | |
28057 | 3 | G/R | 3 | rs1219669291 | 0.2069 | None | gnomAD-4.0.0 | 3.1863E-06 | |
28058 | 4 | P/R | 4 | rs1293214241 | 0.3938 | None | gnomAD-2.1.1 | 4.03E-06 | |
28058 | 4 | P/R | 4 | rs1293214241 | 0.3938 | None | gnomAD-4.0.0 | 3.18617E-06 | |
28058 | 4 | P/S | 4 | None | 0.3938 | None | gnomAD-4.0.0 | 1.59313E-06 | |
28059 | 5 | P/A | 5 | rs1228328567 | 0.1172 | None | gnomAD-2.1.1 | 4.03E-06 | |
28059 | 5 | P/A | 5 | rs1228328567 | 0.1172 | None | gnomAD-4.0.0 | 3.1859E-06 | |
28060 | 6 | G/D | 6 | rs758626435 | 0.2279 | None | gnomAD-2.1.1 | 7.16E-06 | |
28060 | 6 | G/D | 6 | rs758626435 | 0.2279 | None | gnomAD-3.1.2 | 3.94E-05 | |
28060 | 6 | G/D | 6 | rs758626435 | 0.2279 | None | gnomAD-4.0.0 | 1.02573E-05 | |
28061 | 7 | P/L | 7 | None | 0.8297 | None | gnomAD-4.0.0 | 1.36899E-06 | |
28061 | 7 | P/S | 7 | rs373806358 | 0.8297 | None | gnomAD-4.0.0 | 1.36898E-06 | |
28061 | 7 | P/T | 7 | rs373806358 | 0.8297 | None | gnomAD-2.1.1 | 4.03E-06 | |
28061 | 7 | P/T | 7 | rs373806358 | 0.8297 | None | gnomAD-3.1.2 | 6.57E-06 | |
28061 | 7 | P/T | 7 | rs373806358 | 0.8297 | None | gnomAD-4.0.0 | 3.7196E-06 | |
28062 | 8 | I/T | 9 | rs750669319 | 0.1452 | None | gnomAD-2.1.1 | 8.07E-06 | |
28062 | 8 | I/T | 9 | rs750669319 | 0.1452 | None | gnomAD-4.0.0 | 4.77742E-06 | |
28063 | 9 | R/C | 11 | rs539595292 | 0.5378 | None | gnomAD-2.1.1 | 2.51E-05 | |
28063 | 9 | R/C | 11 | rs539595292 | 0.5378 | None | gnomAD-3.1.2 | 1.97E-05 | |
28063 | 9 | R/C | 11 | rs539595292 | 0.5378 | None | 1000 genomes | 1.99681E-04 | |
28063 | 9 | R/C | 11 | rs539595292 | 0.5378 | None | gnomAD-4.0.0 | 1.42571E-05 | |
28063 | 9 | R/H | 11 | rs570847832 | 0.5378 | None | gnomAD-2.1.1 | 8.47E-05 | |
28063 | 9 | R/H | 11 | rs570847832 | 0.5378 | None | gnomAD-3.1.2 | 3.29E-05 | |
28063 | 9 | R/H | 11 | rs570847832 | 0.5378 | None | 1000 genomes | 1.99681E-04 | |
28063 | 9 | R/H | 11 | rs570847832 | 0.5378 | None | gnomAD-4.0.0 | 6.13723E-05 | |
28064 | 10 | I/T | 12 | rs1366264826 | 0.2743 | None | gnomAD-2.1.1 | 1.21E-05 | |
28064 | 10 | I/T | 12 | rs1366264826 | 0.2743 | None | gnomAD-4.0.0 | 3.42178E-06 | |
28065 | 11 | D/E | 13 | rs2154160302 | 0.4096 | None | gnomAD-3.1.2 | 6.57E-06 | |
28065 | 11 | D/E | 13 | rs2154160302 | 0.4096 | None | gnomAD-4.0.0 | 6.56676E-06 | |
28065 | 11 | D/H | 13 | rs764469970 | 0.4096 | None | gnomAD-2.1.1 | 2.82E-05 | |
28065 | 11 | D/H | 13 | rs764469970 | 0.4096 | None | gnomAD-3.1.2 | 6.57E-06 | |
28065 | 11 | D/H | 13 | rs764469970 | 0.4096 | None | gnomAD-4.0.0 | 1.91621E-05 | |
28066 | 12 | E/K | 14 | rs1703825463 | 0.5812 | None | gnomAD-4.0.0 | 2.05312E-06 | |
28068 | 14 | S/T | 16 | rs72648219 | 0.1324 | None | gnomAD-2.1.1 | 5.01E-05 | |
28068 | 14 | S/T | 16 | rs72648219 | 0.1324 | None | gnomAD-3.1.2 | 1.77438E-04 | |
28068 | 14 | S/T | 16 | rs72648219 | 0.1324 | None | gnomAD-4.0.0 | 2.54116E-05 | |
28070 | 16 | D/N | 18 | None | 0.4600 | None | gnomAD-4.0.0 | 6.84334E-07 | |
28071 | 17 | S/N | 19 | rs1489303376 | 0.1348 | None | gnomAD-2.1.1 | 3.19E-05 | |
28071 | 17 | S/R | 19 | rs1169451357 | 0.1348 | None | gnomAD-2.1.1 | 4.03E-06 | |
28071 | 17 | S/R | 19 | rs1169451357 | 0.1348 | None | gnomAD-4.0.0 | 1.59194E-06 | |
28072 | 18 | I/K | 20 | rs1475606876 | 0.0683 | None | gnomAD-2.1.1 | 4.03E-06 | |
28072 | 18 | I/K | 20 | rs1475606876 | 0.0683 | None | gnomAD-4.0.0 | 1.36865E-06 | |
28072 | 18 | I/V | 20 | None | 0.0683 | None | gnomAD-4.0.0 | 2.05298E-06 | |
28074 | 20 | I/V | 22 | rs1202396763 | 0.0756 | None | gnomAD-3.1.2 | 6.57E-06 | |
28074 | 20 | I/V | 22 | rs1202396763 | 0.0756 | None | gnomAD-4.0.0 | 6.57099E-06 | |
28080 | 26 | E/A | 28 | None | 1.1032 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28080 | 26 | E/Q | 28 | rs1198142735 | 1.1032 | None | gnomAD-3.1.2 | 6.57E-06 | |
28080 | 26 | E/Q | 28 | rs1198142735 | 1.1032 | None | gnomAD-4.0.0 | 2.5629E-06 | |
28081 | 27 | Y/S | 29 | None | 0.5654 | None | gnomAD-4.0.0 | 1.59178E-06 | |
28082 | 28 | D/N | 30 | None | 0.2625 | None | gnomAD-4.0.0 | 6.84315E-07 | |
28083 | 29 | G/S | 31 | None | 0.1710 | None | gnomAD-4.0.0 | 4.80129E-06 | |
28083 | 29 | G/V | 31 | None | 0.1710 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28084 | 30 | G/S | 32 | rs547578610 | 0.5327 | None | gnomAD-2.1.1 | 2.42E-05 | |
28084 | 30 | G/S | 32 | rs547578610 | 0.5327 | None | gnomAD-3.1.2 | 1.97E-05 | |
28084 | 30 | G/S | 32 | rs547578610 | 0.5327 | None | 1000 genomes | 5.99042E-04 | |
28084 | 30 | G/S | 32 | rs547578610 | 0.5327 | None | gnomAD-4.0.0 | 7.68748E-06 | |
28085 | 31 | C/R | 33 | rs2154160212 | 0.2036 | None | gnomAD-3.1.2 | 6.57E-06 | |
28085 | 31 | C/R | 33 | rs2154160212 | 0.2036 | None | gnomAD-4.0.0 | 6.56573E-06 | |
28085 | 31 | C/Y | 33 | None | 0.2036 | None | gnomAD-4.0.0 | 1.59181E-06 | |
28088 | 34 | S/N | 36 | rs200450022 | 0.4002 | None | gnomAD-2.1.1 | 5.93633E-04 | |
28088 | 34 | S/N | 36 | rs200450022 | 0.4002 | None | gnomAD-3.1.2 | 6.11199E-04 | |
28088 | 34 | S/N | 36 | rs200450022 | 0.4002 | None | 1000 genomes | 5.99042E-04 | |
28088 | 34 | S/N | 36 | rs200450022 | 0.4002 | None | gnomAD-4.0.0 | 1.23634E-03 | |
28088 | 34 | S/T | 36 | rs200450022 | 0.4002 | None | gnomAD-4.0.0 | 6.84295E-07 | |
28089 | 35 | N/S | 37 | None | 0.1834 | None | gnomAD-4.0.0 | 2.40064E-06 | |
28091 | 37 | I/T | 39 | None | 0.1309 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28091 | 37 | I/V | 39 | rs886042615 | 0.1309 | None | gnomAD-2.1.1 | 4.03E-06 | |
28091 | 37 | I/V | 39 | rs886042615 | 0.1309 | None | gnomAD-3.1.2 | 6.57E-06 | |
28091 | 37 | I/V | 39 | rs886042615 | 0.1309 | None | gnomAD-4.0.0 | 3.71847E-06 | |
28092 | 38 | V/D | 40 | None | 0.0932 | None | gnomAD-4.0.0 | 6.8428E-07 | |
28092 | 38 | V/G | 40 | rs761184333 | 0.0932 | None | gnomAD-2.1.1 | 4.03E-06 | |
28092 | 38 | V/G | 40 | rs761184333 | 0.0932 | None | gnomAD-3.1.2 | 1.31E-05 | |
28092 | 38 | V/G | 40 | rs761184333 | 0.0932 | None | gnomAD-4.0.0 | 3.09873E-06 | |
28092 | 38 | V/I | 40 | None | 0.0932 | None | gnomAD-4.0.0 | 1.59168E-06 | |
28092 | 38 | V/L | 40 | None | 0.0932 | None | gnomAD-4.0.0 | 1.59168E-06 | |
28094 | 40 | K/N | 42 | rs746801951 | 0.2249 | None | gnomAD-2.1.1 | 4.03E-06 | |
28094 | 40 | K/N | 42 | rs746801951 | 0.2249 | None | gnomAD-4.0.0 | 1.59168E-06 | |
28094 | 40 | K/R | 42 | None | 0.2249 | None | gnomAD-4.0.0 | 3.18337E-06 | |
28097 | 43 | T/A | 50 | None | 0.2955 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28098 | 44 | T/I | 54 | rs746141297 | 0.8364 | None | gnomAD-2.1.1 | 4.03E-06 | |
28098 | 44 | T/I | 54 | rs746141297 | 0.8364 | None | gnomAD-4.0.0 | 6.84296E-07 | |
28098 | 44 | T/N | 54 | rs746141297 | 0.8364 | None | gnomAD-2.1.1 | 4.03E-06 | |
28098 | 44 | T/N | 54 | rs746141297 | 0.8364 | None | gnomAD-4.0.0 | 1.36859E-06 | |
28100 | 46 | T/I | 63 | rs779244941 | 0.8622 | None | gnomAD-2.1.1 | 4.03E-06 | |
28100 | 46 | T/I | 63 | rs779244941 | 0.8622 | None | gnomAD-4.0.0 | 3.18338E-06 | |
28100 | 46 | T/K | 63 | None | 0.8622 | None | gnomAD-4.0.0 | 1.59169E-06 | |
28101 | 47 | T/I | 64 | rs1483336920 | 0.5126 | None | gnomAD-2.1.1 | 3.18E-05 | |
28101 | 47 | T/I | 64 | rs1483336920 | 0.5126 | None | gnomAD-3.1.2 | 1.31E-05 | |
28101 | 47 | T/I | 64 | rs1483336920 | 0.5126 | None | gnomAD-4.0.0 | 6.40658E-06 | |
28102 | 48 | W/C | 65 | rs1338535777 | 0.2122 | None | gnomAD-4.0.0 | 1.59169E-06 | |
28102 | 48 | W/R | 65 | rs1553565393 | 0.2122 | None | gnomAD-4.0.0 | 1.59163E-06 | |
28103 | 49 | H/Q | 66 | rs749278779 | 0.5622 | None | gnomAD-2.1.1 | 4.03E-06 | |
28103 | 49 | H/Q | 66 | rs749278779 | 0.5622 | None | gnomAD-3.1.2 | 6.57E-06 | |
28103 | 49 | H/Q | 66 | rs749278779 | 0.5622 | None | gnomAD-4.0.0 | 3.84412E-06 | |
28104 | 50 | I/V | 67 | rs778359308 | 0.4709 | None | gnomAD-2.1.1 | 4.03E-06 | |
28104 | 50 | I/V | 67 | rs778359308 | 0.4709 | None | gnomAD-4.0.0 | 3.18337E-06 | |
28108 | 54 | A/P | 75 | None | 0.5853 | None | gnomAD-4.0.0 | 6.84287E-07 | |
28108 | 54 | A/S | 75 | None | 0.5853 | None | gnomAD-4.0.0 | 6.84287E-07 | |
28109 | 55 | V/F | 77 | rs1173902848 | 0.1303 | None | gnomAD-2.1.1 | 4.03E-06 | |
28109 | 55 | V/F | 77 | rs1173902848 | 0.1303 | None | gnomAD-4.0.0 | 3.18337E-06 | |
28109 | 55 | V/I | 77 | None | 0.1303 | None | gnomAD-4.0.0 | 1.59168E-06 | |
28110 | 56 | A/S | 83 | None | 0.6017 | None | gnomAD-4.0.0 | 1.36858E-06 | |
28110 | 56 | A/T | 83 | None | 0.6017 | None | gnomAD-4.0.0 | 6.84288E-07 | |
28111 | 57 | R/K | 88 | rs1060500463 | 0.8145 | None | gnomAD-4.0.0 | 3.1835E-06 | |
28112 | 58 | T/I | 89 | rs1429490203 | 0.2113 | None | gnomAD-2.1.1 | 4.03E-06 | |
28112 | 58 | T/I | 89 | rs1429490203 | 0.2113 | None | gnomAD-3.1.2 | 6.57E-06 | |
28112 | 58 | T/I | 89 | rs1429490203 | 0.2113 | None | gnomAD-4.0.0 | 3.71853E-06 | |
28112 | 58 | T/K | 89 | None | 0.2113 | None | gnomAD-4.0.0 | 6.84286E-07 | |
28113 | 59 | S/F | 90 | rs753201539 | 0.3105 | None | gnomAD-2.1.1 | 4.03E-06 | |
28113 | 59 | S/F | 90 | rs753201539 | 0.3105 | None | gnomAD-4.0.0 | 1.02644E-05 | |
28113 | 59 | S/T | 90 | None | 0.3105 | None | gnomAD-4.0.0 | 1.59172E-06 | |
28113 | 59 | S/Y | 90 | rs753201539 | 0.3105 | None | gnomAD-2.1.1 | 4.03E-06 | |
28114 | 60 | I/V | 91 | rs1703767853 | 0.1849 | None | gnomAD-3.1.2 | 6.57E-06 | |
28114 | 60 | I/V | 91 | rs1703767853 | 0.1849 | None | gnomAD-4.0.0 | 3.09873E-06 | |
28116 | 62 | I/T | 93 | rs1468127080 | 0.0932 | None | gnomAD-2.1.1 | 4.03E-06 | |
28116 | 62 | I/T | 93 | rs1468127080 | 0.0932 | None | gnomAD-3.1.2 | 6.57E-06 | |
28116 | 62 | I/T | 93 | rs1468127080 | 0.0932 | None | gnomAD-4.0.0 | 5.57783E-06 | |
28117 | 63 | V/A | 94 | None | 0.4505 | None | gnomAD-4.0.0 | 1.5917E-06 | |
28117 | 63 | V/F | 94 | None | 0.4505 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28118 | 64 | R/C | 96 | rs56057221 | 0.8213 | None | gnomAD-2.1.1 | 6.02293E-03 | |
28118 | 64 | R/C | 96 | rs56057221 | 0.8213 | None | gnomAD-3.1.2 | 1.80138E-02 | |
28118 | 64 | R/C | 96 | rs56057221 | 0.8213 | None | 1000 genomes | 1.61741E-02 | |
28118 | 64 | R/C | 96 | rs56057221 | 0.8213 | None | gnomAD-4.0.0 | 3.41543E-03 | |
28118 | 64 | R/G | 96 | None | 0.8213 | None | gnomAD-4.0.0 | 3.42152E-06 | |
28118 | 64 | R/H | 96 | rs72648220 | 0.8213 | None | gnomAD-2.1.1 | 3.63E-05 | |
28118 | 64 | R/H | 96 | rs72648220 | 0.8213 | None | gnomAD-3.1.2 | 5.26E-05 | |
28118 | 64 | R/H | 96 | rs72648220 | 0.8213 | None | 1000 genomes | 1.99681E-04 | |
28118 | 64 | R/H | 96 | rs72648220 | 0.8213 |
DCM |
Literature | None | |
28118 | 64 | R/H | 96 | rs72648220 | 0.8213 | None | gnomAD-4.0.0 | 1.85924E-05 | |
28118 | 64 | R/L | 96 | rs72648220 | 0.8213 | None | gnomAD-2.1.1 | 2.15E-05 | |
28118 | 64 | R/L | 96 | rs72648220 | 0.8213 | None | gnomAD-3.1.2 | 2.63E-05 | |
28118 | 64 | R/L | 96 | rs72648220 | 0.8213 | None | gnomAD-4.0.0 | 1.23959E-05 | |
28118 | 64 | R/P | 96 | None | 0.8213 | None | gnomAD-4.0.0 | 6.84312E-07 | |
28119 | 65 | L/P | 97 | rs1461216101 | 0.1114 | None | gnomAD-2.1.1 | 4.03E-06 | |
28119 | 65 | L/P | 97 | rs1461216101 | 0.1114 | None | gnomAD-4.0.0 | 1.59173E-06 | |
28120 | 66 | T/I | 98 | None | 0.5182 | None | gnomAD-4.0.0 | 1.36861E-06 | |
28120 | 66 | T/K | 98 | rs1261670625 | 0.5182 | None | gnomAD-2.1.1 | 4.03E-06 | |
28120 | 66 | T/K | 98 | rs1261670625 | 0.5182 | None | gnomAD-4.0.0 | 2.60035E-05 | |
28121 | 67 | T/I | 99 | None | 0.4742 | None | gnomAD-4.0.0 | 6.843E-07 | |
28121 | 67 | T/K | 99 | rs397517726 | 0.4742 | None | gnomAD-2.1.1 | 2.15E-05 | |
28121 | 67 | T/K | 99 | rs397517726 | 0.4742 | None | gnomAD-3.1.2 | 4.6E-05 | |
28121 | 67 | T/K | 99 | rs397517726 | 0.4742 | None | gnomAD-4.0.0 | 1.05359E-05 | |
28121 | 67 | T/R | 99 | rs397517726 | 0.4742 | None | gnomAD-2.1.1 | 4.03E-06 | |
28121 | 67 | T/R | 99 | rs397517726 | 0.4742 | None | gnomAD-3.1.2 | 6.57E-06 | |
28121 | 67 | T/R | 99 | rs397517726 | 0.4742 | None | gnomAD-4.0.0 | 1.23942E-06 | |
28122 | 68 | G/R | 100 | rs371768793 | 0.4143 | None | gnomAD-2.1.1 | 4.03E-06 | |
28122 | 68 | G/R | 100 | rs371768793 | 0.4143 | None | gnomAD-3.1.2 | 6.57E-06 | |
28122 | 68 | G/R | 100 | rs371768793 | 0.4143 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28122 | 68 | G/V | 100 | rs1340329525 | 0.4143 | None | gnomAD-2.1.1 | 3.19E-05 | |
28122 | 68 | G/V | 100 | rs1340329525 | 0.4143 | None | gnomAD-3.1.2 | 6.57E-06 | |
28122 | 68 | G/V | 100 | rs1340329525 | 0.4143 | None | gnomAD-4.0.0 | 6.5716E-06 | |
28123 | 69 | S/N | 102 | rs1703752029 | 0.1889 | None | gnomAD-4.0.0 | 6.84307E-07 | |
28124 | 70 | E/K | 103 | rs1295072546 | 0.3021 | None | gnomAD-2.1.1 | 3.19E-05 | |
28124 | 70 | E/K | 103 | rs1295072546 | 0.3021 | None | gnomAD-4.0.0 | 1.36864E-06 | |
28125 | 71 | Y/C | 104 | rs763653948 | 0.1051 | None | gnomAD-2.1.1 | 4.03E-06 | |
28125 | 71 | Y/C | 104 | rs763653948 | 0.1051 | None | gnomAD-4.0.0 | 1.59183E-06 | |
28128 | 74 | R/C | 107 | rs1375604948 | 0.1009 | None | gnomAD-3.1.2 | 6.57E-06 | |
28128 | 74 | R/C | 107 | rs1375604948 | 0.1009 | None | gnomAD-4.0.0 | 1.23969E-05 | |
28128 | 74 | R/G | 107 | rs1375604948 | 0.1009 | None | gnomAD-2.1.1 | 4.03E-06 | |
28128 | 74 | R/G | 107 | rs1375604948 | 0.1009 | None | gnomAD-4.0.0 | 6.84391E-07 | |
28128 | 74 | R/H | 107 | rs367596354 | 0.1009 | None | gnomAD-2.1.1 | 8.07E-06 | |
28128 | 74 | R/H | 107 | rs367596354 | 0.1009 | None | gnomAD-3.1.2 | 4.6E-05 | |
28128 | 74 | R/H | 107 | rs367596354 | 0.1009 | None | gnomAD-4.0.0 | 1.05377E-05 | |
28129 | 75 | V/D | 108 | None | 0.0675 | None | gnomAD-4.0.0 | 1.59238E-06 | |
28129 | 75 | V/F | 108 | rs752974639 | 0.0675 | None | gnomAD-2.1.1 | 4.3E-05 | |
28129 | 75 | V/F | 108 | rs752974639 | 0.0675 | None | gnomAD-3.1.2 | 3.28E-05 | |
28129 | 75 | V/F | 108 | rs752974639 | 0.0675 | None | gnomAD-4.0.0 | 7.06613E-05 | |
28130 | 76 | C/R | 109 | None | 0.0665 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28130 | 76 | C/W | 109 | None | 0.0665 | None | gnomAD-4.0.0 | 6.84538E-07 | |
28131 | 77 | A/T | 110 | None | 0.0752 | None | gnomAD-4.0.0 | 6.84604E-07 | |
28133 | 79 | N/S | 112 | rs727505053 | 0.1026 | None | gnomAD-2.1.1 | 7.17E-06 | |
28133 | 79 | N/S | 112 | rs727505053 | 0.1026 | None | gnomAD-3.1.2 | 6.57E-06 | |
28133 | 79 | N/S | 112 | rs727505053 | 0.1026 | None | gnomAD-4.0.0 | 9.92366E-06 | |
28134 | 80 | R/C | 113 | rs771002170 | 0.5655 | None | gnomAD-2.1.1 | 3.94E-05 | |
28134 | 80 | R/C | 113 | rs771002170 | 0.5655 | None | gnomAD-3.1.2 | 1.31E-05 | |
28134 | 80 | R/C | 113 | rs771002170 | 0.5655 | None | gnomAD-4.0.0 | 1.67469E-05 | |
28134 | 80 | R/H | 113 | rs777785413 | 0.5655 | None | gnomAD-2.1.1 | 1.21E-05 | |
28134 | 80 | R/H | 113 | rs777785413 | 0.5655 | None | gnomAD-3.1.2 | 6.57E-06 | |
28134 | 80 | R/H | 113 | rs777785413 | 0.5655 | None | gnomAD-4.0.0 | 6.82345E-06 | |
28134 | 80 | R/L | 113 | rs777785413 | 0.5655 | None | gnomAD-2.1.1 | 8.08E-06 | |
28134 | 80 | R/L | 113 | rs777785413 | 0.5655 | None | gnomAD-3.1.2 | 6.57E-06 | |
28134 | 80 | R/L | 113 | rs777785413 | 0.5655 | None | gnomAD-4.0.0 | 5.58282E-06 | |
28135 | 81 | Y/C | 114 | None | 0.5746 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28136 | 82 | G/R | 115 | rs879234686 | 0.1942 | None | gnomAD-2.1.1 | 3.18E-05 | |
28136 | 82 | G/R | 115 | rs879234686 | 0.1942 | None | gnomAD-3.1.2 | 1.31E-05 | |
28136 | 82 | G/R | 115 | rs879234686 | 0.1942 | None | gnomAD-4.0.0 | 1.31427E-05 | |
28137 | 83 | K/E | 117 | None | 0.4324 | None | gnomAD-4.0.0 | 2.04055E-05 | |
28137 | 83 | K/M | 117 | None | 0.4324 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28138 | 84 | S/N | 118 | rs975160153 | 0.1037 | None | gnomAD-2.1.1 | 8.1E-06 | |
28138 | 84 | S/N | 118 | rs975160153 | 0.1037 | None | gnomAD-4.0.0 | 4.79356E-06 | |
28140 | 86 | Y/C | 120 | None | 0.3044 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28140 | 86 | Y/H | 120 | rs1703729439 | 0.3044 | None | gnomAD-4.0.0 | 1.59848E-06 | |
28141 | 87 | S/G | 121 | None | 0.1433 | None | gnomAD-4.0.0 | 2.74299E-06 | |
28141 | 87 | S/I | 121 | rs748707866 | 0.1433 | None | gnomAD-3.1.2 | 6.57E-06 | |
28141 | 87 | S/I | 121 | rs748707866 | 0.1433 | None | gnomAD-4.0.0 | 6.57022E-06 | |
28141 | 87 | S/R | 121 | None | 0.1433 | None | gnomAD-4.0.0 | 1.60286E-06 | |
28141 | 87 | S/T | 121 | rs748707866 | 0.1433 | None | gnomAD-2.1.1 | 1.62E-05 | |
28141 | 87 | S/T | 121 | rs748707866 | 0.1433 | None | gnomAD-4.0.0 | 6.40158E-06 | |
28143 | 89 | S/F | 123 | rs878971321 | 0.1542 | None | gnomAD-3.1.2 | 6.57E-06 | |
28143 | 89 | S/F | 123 | rs878971321 | 0.1542 | None | gnomAD-4.0.0 | 6.57039E-06 | |
28145 | 91 | A/V | 126 | rs765357961 | 0.3350 | None | gnomAD-2.1.1 | 4.07E-06 | |
28145 | 91 | A/V | 126 | rs765357961 | 0.3350 | None | gnomAD-3.1.2 | 2.63E-05 | |
28145 | 91 | A/V | 126 | rs765357961 | 0.3350 | None | gnomAD-4.0.0 | 2.23817E-05 | |
28146 | 92 | V/A | 127 | rs755354570 | 0.1738 | None | gnomAD-2.1.1 | 1.09E-05 | |
28146 | 92 | V/A | 127 | rs755354570 | 0.1738 | None | gnomAD-3.1.2 | 2.63E-05 | |
28146 | 92 | V/A | 127 | rs755354570 | 0.1738 | None | gnomAD-4.0.0 | 3.29632E-05 | |
28146 | 92 | V/I | 127 | rs371366196 | 0.1738 | None | gnomAD-2.1.1 | 4.7E-05 | |
28146 | 92 | V/I | 127 | rs371366196 | 0.1738 | None | gnomAD-3.1.2 | 5.26E-05 | |
28146 | 92 | V/I | 127 | rs371366196 | 0.1738 | None | gnomAD-4.0.0 | 7.02819E-05 | |
28147 | 93 | V/A | 128 | rs1285081649 | 0.2966 | None | gnomAD-2.1.1 | 4.08E-06 | |
28147 | 93 | V/A | 128 | rs1285081649 | 0.2966 | None | gnomAD-4.0.0 | 2.0612E-06 | |
28147 | 93 | V/F | 128 | rs1318887192 | 0.2966 | None | gnomAD-2.1.1 | 4.09E-06 | |
28147 | 93 | V/F | 128 | rs1318887192 | 0.2966 | None | gnomAD-4.0.0 | 1.60743E-06 | |
28147 | 93 | V/L | 128 | None | 0.2966 | None | gnomAD-4.0.0 | 1.60743E-06 | |
28148 | 94 | A/G | 130 | rs751860205 | 0.0696 | None | gnomAD-2.1.1 | 8.18E-06 | |
28148 | 94 | A/G | 130 | rs751860205 | 0.0696 | None | gnomAD-3.1.2 | 6.57E-06 | |
28148 | 94 | A/G | 130 | rs751860205 | 0.0696 | None | gnomAD-4.0.0 | 4.35482E-06 | |
28148 | 94 | A/T | 130 | rs1703714627 | 0.0696 | None | gnomAD-4.0.0 | 1.60799E-06 | |
28148 | 94 | A/V | 130 | rs751860205 | 0.0696 | None | gnomAD-2.1.1 | 3.18E-05 | |
28148 | 94 | A/V | 130 | rs751860205 | 0.0696 | None | gnomAD-3.1.2 | 6.57E-06 | |
28148 | 94 | A/V | 130 | rs751860205 | 0.0696 | None | gnomAD-4.0.0 | 6.57117E-06 | |
28150 | 96 | Y/C | 132 | None | 0.2986 | None | gnomAD-4.0.0 | 1.60752E-06 | |
28150 | 96 | Y/H | 132 | rs397517727 | 0.2986 | None | gnomAD-2.1.1 | 9.83E-05 | |
28150 | 96 | Y/H | 132 | rs397517727 | 0.2986 | None | gnomAD-3.1.2 | 1.31E-05 | |
28150 | 96 | Y/H | 132 | rs397517727 | 0.2986 | None | 1000 genomes | 3.99361E-04 | |
28150 | 96 | Y/H | 132 | rs397517727 | 0.2986 | None | gnomAD-4.0.0 | 3.73312E-05 |