Note: In this version of the database, the structural analysis is based on the impact of a variant on the protein tertiary structure. The missense variant may disrupt additional features (e.g. protein-protein interactions or functional sites) that we are currently not capturing.
If your variant is not present in the table below click here to use our missense3d website to analyse it using your own 3D structural model.
Download Report | Uniprot Position | PDB/Model Position | Residue Wildtype | Residue Mutant | Structure | Structure Type | Missense3D Prediction | Structural damage predicted | Humsavar Annotation | ClinVar Annotation | MAF score | dbSNP | Ensemble ID | SIFT prediction(score) | PolyPhen-2 prediction(score) | Interface(source RCSB) | Pfam domain | Location (GRCh37) | Location (GRCh38) | CCR percentile | GERP score |
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54 | 54 | HIS | ARG | 3J1Z_P | MODEL | Damaging | Cavity altered | Pathogenic | - | - | rs587776926 | ENST00000374276 | deleterious(0) | probably_damaging(0.993) | - | - | 1:26371598 | 1:26045107 | 0 | 5.73 |
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54 | 54 | HIS | TYR | 3J1Z_P | MODEL | Damaging | Cavity altered | - | - | 4.061e-06 | rs770139568 | ENST00000374276 | deleterious(0) | probably_damaging(0.997) | - | - | 1:26371599 | 1:26045108 | 83 | 5.73 |
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56 | 56 | GLN | PRO | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs1274808805 | ENST00000374276 | tolerated(0.33) | benign(0) | - | - | 1:26371592 | 1:26045101 | 60 | 3.43 |
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58 | 58 | GLY | SER | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs571313675 | ENST00000374276 | tolerated(0.61) | benign(0.003) | - | - | 1:26371587 | 1:26045096 | 60 | 2.88 |
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58 | 58 | GLY | ALA | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs141752286 | ENST00000374276 | tolerated(0.59) | benign(0.003) | - | - | 1:26371586 | 1:26045095 | 60 | -0.18 |
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58 | 58 | GLY | VAL | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs141752286 | ENST00000374276 | tolerated(0.59) | benign(0.003) | - | - | 1:26371586 | 1:26045095 | 60 | -0.18 |
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58 | 58 | GLY | ASP | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs141752286 | ENST00000374276 | tolerated(0.59) | benign(0.003) | - | - | 1:26371586 | 1:26045095 | 60 | -0.18 |
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64 | 64 | ASP | ASN | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs1289036407 | ENST00000374276 | tolerated(0.35) | benign(0.003) | - | - | 1:26371569 | 1:26045078 | 81 | 1.71 |
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65 | 65 | PRO | ARG | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs746634287 | ENST00000374276 | tolerated(0.81) | benign(0.003) | - | - | 1:26371565 | 1:26045074 | 81 | 1.3 |
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65 | 65 | PRO | LEU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs746634287 | ENST00000374276 | tolerated(0.81) | benign(0.003) | - | - | 1:26371565 | 1:26045074 | 81 | 1.3 |
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95 | 95 | ALA | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.083e-06 | rs1047754678 | ENST00000374276 | deleterious(0.04) | probably_damaging(0.945) | - | Cation_efflux | 1:26370924 | 1:26044433 | 77 | 5.72 |
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164 | 164 | GLU | LYS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 0.0001016 | rs199594277 | ENST00000374276 | tolerated(0.14) | benign(0.06) | - | Cation_efflux | 1:26369971 | 1:26043480 | 13 | 2.35 |
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164 | 164 | GLU | GLN | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 0.0001016 | rs199594277 | ENST00000374276 | tolerated(0.14) | benign(0.06) | - | Cation_efflux | 1:26369971 | 1:26043480 | 13 | 2.35 |
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164 | 164 | GLU | ALA | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs1462382932 | ENST00000374276 | tolerated(0.15) | benign(0.022) | - | Cation_efflux | 1:26369970 | 1:26043479 | 0 | 5.46 |
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182 | 182 | SER | LEU | 3J1Z_P | MODEL | Damaging | Buried H-bond breakage | - | - | - | rs1429634625 | ENST00000374276 | deleterious(0) | probably_damaging(0.988) | - | Cation_efflux | 1:26369916 | 1:26043425 | 43 | 5.6 |
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191 | 191 | ILE | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.074e-06 | rs1219015034 | ENST00000374276 | deleterious(0.03) | benign(0.272) | - | Cation_efflux | 1:26369199 | 1:26042708 | - | 0.26 |
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191 | 191 | ILE | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.153e-06 | rs776195536 | ENST00000374276 | deleterious(0) | benign(0.043) | - | Cation_efflux | 1:26369889 | 1:26043398 | 18 | 3.14 |
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224 | 224 | VAL | ALA | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.122e-06 | rs1170235044 | ENST00000374276 | tolerated(0.34) | benign(0.359) | - | Cation_efflux | 1:26369101 | 1:26042610 | 30 | 5.92 |
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229 | 229 | MET | LEU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs1256216661 | ENST00000374276 | tolerated(1) | benign(0) | - | Cation_efflux | 1:26369087 | 1:26042596 | 25 | 3.06 |
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229 | 229 | MET | ILE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs1187918977 | ENST00000374276 | tolerated(0.22) | benign(0) | - | Cation_efflux | 1:26369085 | 1:26042594 | 3 | -0.45 |
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291 | 291 | ARG | CYS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | - | - | tolerated(0.11) | benign(0.022) | - | - | - | - | - | - |
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291 | 291 | ARG | HIS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 0.0006053 | rs149340896 | ENST00000374276 | deleterious(0.03) | benign(0.022) | - | - | 1:26366369 | 1:26039878 | 0 | 0.36 |
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57 | 57 | LYS | ASN | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | - | - | tolerated(0.34) | benign(0.001) | - | - | - | - | - | - |
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66 | 66 | LYS | ASN | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | - | - | tolerated(0.06) | benign(0.063) | - | - | - | - | - | - |
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91 | 91 | GLU | LYS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 0.0 | rs1295815835 | ENST00000374278 | deleterious(0.01) | possibly_damaging(0.62) | - | Cation_efflux | 1:26371488 | 1:26044997 | 13 | 5.91 |
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95 | 95 | ALA | SER | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.167e-06 | rs769332895 | ENST00000374278 | deleterious(0.02) | probably_damaging(0.923) | - | Cation_efflux | 1:26370031 | 1:26043540 | 92 | 5.36 |
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97 | 97 | VAL | PHE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.155e-06 | rs748052043 | ENST00000374278 | deleterious(0.03) | benign(0.014) | - | Cation_efflux | 1:26370025 | 1:26043534 | 25 | -3.59 |
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102 | 102 | ILE | PHE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.068e-06 | rs1210926990 | ENST00000374278 | deleterious(0) | probably_damaging(0.995) | - | Cation_efflux | 1:26370010 | 1:26043519 | 67 | 5.36 |
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105 | 105 | VAL | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 1.22e-05 | rs779729990 | ENST00000374278 | deleterious(0.03) | possibly_damaging(0.861) | - | Cation_efflux | 1:26370001 | 1:26043510 | 42 | 5.36 |
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106 | 106 | THR | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 1.22e-05 | rs370485489 | ENST00000374278 | deleterious(0) | probably_damaging(0.975) | - | Cation_efflux | 1:26369997 | 1:26043506 | 9 | 5.36 |
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107 | 107 | GLY | TRP | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs1393993050 | ENST00000374278 | deleterious(0) | probably_damaging(0.999) | - | Cation_efflux | 1:26369995 | 1:26043504 | 9 | 5.36 |
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107 | 107 | GLY | VAL | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.067e-06 | rs764241797 | ENST00000374278 | deleterious(0) | possibly_damaging(0.838) | - | Cation_efflux | 1:26369994 | 1:26043503 | 9 | 5.36 |
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108 | 108 | VAL | ILE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 1.627e-05 | rs571054223 | ENST00000374278 | tolerated(0.14) | benign(0.02) | - | Cation_efflux | 1:26369992 | 1:26043501 | 3 | 2.46 |
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108 | 108 | VAL | LEU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 1.627e-05 | rs571054223 | ENST00000374278 | tolerated(0.14) | benign(0.02) | - | Cation_efflux | 1:26369992 | 1:26043501 | 3 | 2.46 |
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115 | 115 | GLU | GLN | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 0.0001016 | rs199594277 | ENST00000374278 | tolerated(0.15) | benign(0.042) | - | Cation_efflux | 1:26369971 | 1:26043480 | 13 | 2.35 |
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115 | 115 | GLU | LYS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 0.0001016 | rs199594277 | ENST00000374278 | tolerated(0.15) | benign(0.042) | - | Cation_efflux | 1:26369971 | 1:26043480 | 13 | 2.35 |
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115 | 115 | GLU | ALA | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs1462382932 | ENST00000374278 | tolerated(0.17) | benign(0.099) | - | Cation_efflux | 1:26369970 | 1:26043479 | 0 | 5.46 |
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116 | 116 | ARG | TRP | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.066e-06 | rs772899336 | ENST00000374278 | deleterious(0) | probably_damaging(1) | - | Cation_efflux | 1:26369968 | 1:26043477 | 8 | 2.56 |
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116 | 116 | ARG | GLN | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 1.219e-05 | rs769455773 | ENST00000374278 | deleterious(0) | probably_damaging(1) | - | Cation_efflux | 1:26369967 | 1:26043476 | 0 | 5.46 |
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117 | 117 | LEU | PRO | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.064e-06 | rs1339330203 | ENST00000374278 | deleterious(0) | probably_damaging(0.987) | - | Cation_efflux | 1:26369964 | 1:26043473 | 8 | 5.46 |
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118 | 118 | ILE | LEU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.129e-06 | rs1311616723 | ENST00000374278 | tolerated(1) | benign(0.006) | - | Cation_efflux | 1:26369962 | 1:26043471 | 3 | 3.12 |
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120 | 120 | GLY | ALA | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs747614578 | ENST00000374278 | tolerated(0.24) | benign(0.179) | - | Cation_efflux | 1:26369955 | 1:26043464 | 85 | 5.46 |
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122 | 122 | TYR | CYS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs951294636 | ENST00000374278 | deleterious(0) | probably_damaging(0.922) | - | Cation_efflux | 1:26369949 | 1:26043458 | 85 | 4.34 |
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126 | 126 | GLY | GLU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.063e-06 | rs1168338060 | ENST00000374278 | deleterious(0.03) | benign(0.114) | - | Cation_efflux | 1:26369937 | 1:26043446 | 0 | 4.54 |
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126 | 126 | GLY | ARG | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 5.69e-05 | rs779896941 | ENST00000374278 | deleterious(0) | possibly_damaging(0.797) | - | Cation_efflux | 1:26369938 | 1:26043447 | 85 | 3.59 |
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126 | 126 | GLY | TRP | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 5.69e-05 | rs779896941 | ENST00000374278 | deleterious(0) | possibly_damaging(0.797) | - | Cation_efflux | 1:26369938 | 1:26043447 | 85 | 3.59 |
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127 | 127 | GLY | VAL | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 2.032e-05 | rs758171790 | ENST00000374278 | tolerated(0.29) | benign(0.026) | - | Cation_efflux | 1:26369934 | 1:26043443 | 8 | -2.74 |
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128 | 128 | THR | ASN | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs1206569581 | ENST00000374278 | deleterious(0) | possibly_damaging(0.808) | - | Cation_efflux | 1:26369931 | 1:26043440 | 60 | 4.55 |
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130 | 130 | LEU | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs1481902068 | ENST00000374278 | deleterious(0) | possibly_damaging(0.842) | - | Cation_efflux | 1:26369926 | 1:26043435 | 60 | 3.58 |
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130 | 130 | LEU | PRO | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs1264093757 | ENST00000374278 | deleterious(0) | probably_damaging(0.996) | - | Cation_efflux | 1:26369925 | 1:26043434 | 60 | 5.46 |
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131 | 131 | ILE | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.063e-06 | rs1185769506 | ENST00000374278 | deleterious(0) | probably_damaging(0.958) | - | Cation_efflux | 1:26369921 | 1:26043430 | 60 | 3.67 |
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132 | 132 | THR | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.127e-06 | rs148861822 | ENST00000374278 | deleterious(0) | probably_damaging(0.99) | - | Cation_efflux | 1:26369919 | 1:26043428 | 3 | 5.6 |
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133 | 133 | SER | LEU | 3J1Z_P | MODEL | Damaging | Buried H-bond breakage | - | - | - | rs1429634625 | ENST00000374278 | deleterious(0) | probably_damaging(0.974) | - | Cation_efflux | 1:26369916 | 1:26043425 | 43 | 5.6 |
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134 | 134 | GLY | VAL | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | - | - | deleterious(0) | benign(0.297) | - | Cation_efflux | - | - | - | - |
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136 | 136 | ALA | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.132e-06 | rs767551005 | ENST00000374278 | deleterious(0) | probably_damaging(0.934) | - | Cation_efflux | 1:26369908 | 1:26043417 | 43 | 4.68 |
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136 | 136 | ALA | SER | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.132e-06 | rs767551005 | ENST00000374278 | deleterious(0) | probably_damaging(0.934) | - | Cation_efflux | 1:26369908 | 1:26043417 | 43 | 4.68 |
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138 | 138 | ALA | SER | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.068e-06 | rs199807670 | ENST00000374278 | deleterious(0.02) | possibly_damaging(0.653) | - | Cation_efflux | 1:26369902 | 1:26043411 | 25 | 5.6 |
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139 | 139 | VAL | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 2.035e-05 | rs763251118 | ENST00000374278 | deleterious(0.01) | possibly_damaging(0.823) | - | Cation_efflux | 1:26369899 | 1:26043408 | 8 | 5.6 |
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140 | 140 | ASN | LYS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.072e-06 | rs200520278 | ENST00000374278 | deleterious(0) | probably_damaging(0.999) | - | Cation_efflux | 1:26369894 | 1:26043403 | 18 | 0.63 |
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141 | 141 | ILE | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs761464865 | ENST00000374278 | deleterious(0.02) | benign(0.219) | - | Cation_efflux | 1:26369892 | 1:26043401 | 18 | 5.49 |
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142 | 142 | ILE | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.074e-06 | rs1219015034 | ENST00000374278 | deleterious(0.04) | possibly_damaging(0.703) | - | Cation_efflux | 1:26369199 | 1:26042708 | - | 0.26 |
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142 | 142 | ILE | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.153e-06 | rs776195536 | ENST00000374278 | deleterious(0) | benign(0.403) | - | Cation_efflux | 1:26369889 | 1:26043398 | 18 | 3.14 |
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143 | 143 | MET | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs1347754178 | ENST00000374278 | deleterious(0) | benign(0.031) | - | Cation_efflux | 1:26369197 | 1:26042706 | 13 | 5.92 |
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144 | 144 | GLY | ARG | 3J1Z_P | MODEL | Damaging | Clash | - | - | 4.069e-06 | rs748607852 | ENST00000374278 | deleterious(0.03) | possibly_damaging(0.774) | - | Cation_efflux | 1:26369195 | 1:26042704 | 13 | 5.92 |
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146 | 146 | THR | ILE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.065e-06 | rs1436063314 | ENST00000374278 | tolerated(1) | benign(0.001) | - | Cation_efflux | 1:26369188 | 1:26042697 | 30 | 0.8 |
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148 | 148 | HIS | ARG | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.064e-06 | rs750998368 | ENST00000374278 | deleterious(0.01) | benign(0.127) | - | Cation_efflux | 1:26369182 | 1:26042691 | 25 | 5.92 |
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151 | 151 | GLY | ASP | 3J1Z_P | MODEL | Damaging | Buried Gly replaced; Buried / exposed switch | - | - | 0.0004 | rs201917367 | ENST00000374278 | tolerated(0.07) | benign(0.046) | - | Cation_efflux | 1:26369173 | 1:26042682 | 56 | 4.91 |
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152 | 152 | HIS | ARG | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.062e-06 | rs1360833641 | ENST00000374278 | tolerated(0.1) | probably_damaging(0.988) | - | Cation_efflux | 1:26369170 | 1:26042679 | 56 | 5.92 |
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155 | 155 | SER | ASN | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 1.218e-05 | rs1176649861 | ENST00000374278 | tolerated(0.23) | possibly_damaging(0.612) | - | Cation_efflux | 1:26369161 | 1:26042670 | 42 | 5.92 |
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156 | 156 | HIS | ASP | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs377645638 | ENST00000374278 | deleterious(0.02) | probably_damaging(0.976) | - | Cation_efflux | 1:26369159 | 1:26042668 | 3 | 5.92 |
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157 | 157 | GLY | SER | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.468e-05 | rs760380190 | ENST00000374278 | tolerated(0.15) | possibly_damaging(0.577) | - | Cation_efflux | 1:26369156 | 1:26042665 | 8 | 3.02 |
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157 | 157 | GLY | ARG | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.468e-05 | rs760380190 | ENST00000374278 | tolerated(0.15) | possibly_damaging(0.577) | - | Cation_efflux | 1:26369156 | 1:26042665 | 8 | 3.02 |
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157 | 157 | GLY | ASP | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs752091122 | ENST00000374278 | tolerated(0.11) | possibly_damaging(0.782) | - | Cation_efflux | 1:26369155 | 1:26042664 | 0 | -4.25 |
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157 | 157 | GLY | CYS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | - | - | deleterious(0) | probably_damaging(0.998) | - | Cation_efflux | - | - | - | - |
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158 | 158 | THR | ALA | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 2.437e-05 | rs767194713 | ENST00000374278 | tolerated(0.93) | benign(0.003) | - | Cation_efflux | 1:26369153 | 1:26042662 | 3 | -1.02 |
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160 | 160 | ASN | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs1184275189 | ENST00000374278 | tolerated(0.49) | benign(0) | - | Cation_efflux | 1:26369146 | 1:26042655 | 30 | 2.48 |
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165 | 165 | ASN | LYS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs774477332 | ENST00000374278 | deleterious(0) | probably_damaging(0.939) | - | Cation_efflux | 1:26369130 | 1:26042639 | 3 | 5.01 |
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166 | 166 | PRO | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 0.0004508 | rs551241711 | ENST00000374278 | tolerated(0.5) | benign(0.006) | - | Cation_efflux | 1:26369129 | 1:26042638 | 0 | 5.92 |
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166 | 166 | PRO | ARG | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs1229501025 | ENST00000374278 | deleterious(0.01) | benign(0.356) | - | Cation_efflux | 1:26369128 | 1:26042637 | 0 | 4.07 |
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167 | 167 | SER | ARG | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs1326085936 | ENST00000374278 | deleterious(0) | probably_damaging(0.964) | - | Cation_efflux | 1:26369124 | 1:26042633 | 13 | -5.72 |
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168 | 168 | VAL | LEU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 2.436e-05 | rs373747848 | ENST00000374278 | deleterious(0.04) | possibly_damaging(0.572) | - | Cation_efflux | 1:26369123 | 1:26042632 | 0 | 5.92 |
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168 | 168 | VAL | ILE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 2.436e-05 | rs373747848 | ENST00000374278 | deleterious(0.04) | possibly_damaging(0.572) | - | Cation_efflux | 1:26369123 | 1:26042632 | 0 | 5.92 |
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169 | 169 | ARG | GLN | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 1.624e-05 | rs531195376 | ENST00000374278 | deleterious(0.05) | possibly_damaging(0.899) | - | Cation_efflux | 1:26369119 | 1:26042628 | 0 | 5.0 |
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170 | 170 | ALA | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs864622019 | ENST00000374278 | deleterious(0.02) | probably_damaging(0.968) | - | Cation_efflux | 1:26369117 | 1:26042626 | 36 | 5.92 |
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172 | 172 | PHE | LEU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs1433987946 | ENST00000374278 | deleterious(0) | benign(0.137) | - | Cation_efflux | 1:26369111 | 1:26042620 | 36 | 4.8 |
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173 | 173 | ILE | VAL | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs1281708087 | ENST00000374278 | tolerated(1) | benign(0.026) | - | Cation_efflux | 1:26369108 | 1:26042617 | 0 | 1.99 |
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175 | 175 | VAL | ALA | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.122e-06 | rs1170235044 | ENST00000374278 | tolerated(0.4) | benign(0.259) | - | Cation_efflux | 1:26369101 | 1:26042610 | 30 | 5.92 |
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177 | 177 | GLY | SER | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 3.249e-05 | rs746355195 | ENST00000374278 | deleterious(0) | possibly_damaging(0.7) | - | Cation_efflux | 1:26369096 | 1:26042605 | 18 | 5.92 |
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178 | 178 | ASP | ASN | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 1.218e-05 | rs905698847 | ENST00000374278 | deleterious(0) | probably_damaging(0.992) | - | Cation_efflux | 1:26369093 | 1:26042602 | 8 | 5.92 |
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180 | 180 | MET | LEU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs1256216661 | ENST00000374278 | tolerated(1) | benign(0) | - | Cation_efflux | 1:26369087 | 1:26042596 | 25 | 3.06 |
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180 | 180 | MET | ILE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs1187918977 | ENST00000374278 | deleterious(0.03) | benign(0) | - | Cation_efflux | 1:26369085 | 1:26042594 | 3 | -0.45 |
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182 | 182 | SER | GLY | 3J1Z_P | MODEL | Damaging | Buried H-bond breakage | - | - | 4.061e-06 | rs1484975873 | ENST00000374278 | deleterious(0) | possibly_damaging(0.86) | - | Cation_efflux | 1:26369081 | 1:26042590 | 13 | 5.92 |
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182 | 182 | SER | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs369755786 | ENST00000374278 | deleterious(0) | possibly_damaging(0.872) | - | Cation_efflux | 1:26369080 | 1:26042589 | 0 | 5.92 |
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183 | 183 | MET | VAL | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 6.498e-05 | rs144129605 | ENST00000374278 | tolerated(0.44) | benign(0) | - | Cation_efflux | 1:26369078 | 1:26042587 | 3 | -11.8 |
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183 | 183 | MET | LEU | 3J1Z_P | MODEL | Damaging | Clash | - | - | 6.498e-05 | rs144129605 | ENST00000374278 | tolerated(0.44) | benign(0) | - | Cation_efflux | 1:26369078 | 1:26042587 | 3 | -11.8 |
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183 | 183 | MET | ILE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs200039883 | ENST00000374278 | tolerated(1) | benign(0) | - | Cation_efflux | 1:26369076 | 1:26042585 | 3 | 2.74 |
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184 | 184 | GLY | ASP | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs201084300 | ENST00000374278 | deleterious(0.01) | probably_damaging(0.998) | - | Cation_efflux | 1:26369074 | 1:26042583 | 0 | 5.92 |
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184 | 184 | GLY | ARG | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs767112739 | ENST00000374278 | deleterious(0) | probably_damaging(0.998) | - | Cation_efflux | 1:26369075 | 1:26042584 | 0 | 5.01 |
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189 | 189 | ALA | GLY | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 6.099e-05 | rs766348408 | ENST00000374278 | deleterious(0) | benign(0.116) | - | Cation_efflux | 1:26369059 | 1:26042568 | 82 | 5.01 |
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190 | 190 | TYR | CYS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs770488198 | ENST00000374278 | deleterious(0.05) | benign(0.043) | - | Cation_efflux | 1:26369056 | 1:26042565 | 82 | 0.29 |
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192 | 192 | LEU | VAL | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.129e-06 | rs772867032 | ENST00000374278 | deleterious(0.05) | benign(0.003) | - | Cation_efflux | 1:26369051 | 1:26042560 | 0 | -7.37 |
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193 | 193 | TYR | HIS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.065e-06 | rs1309704648 | ENST00000374278 | deleterious(0.04) | benign(0.127) | - | Cation_efflux | 1:26369048 | 1:26042557 | 8 | 5.78 |
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194 | 194 | PHE | VAL | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | - | - | deleterious(0.02) | benign(0.1) | - | Cation_efflux | - | - | - | - |
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196 | 196 | PRO | ARG | 3J1Z_P | MODEL | Damaging | Cis pro replaced | - | - | 4.074e-06 | rs765967769 | ENST00000374278 | deleterious(0) | probably_damaging(0.999) | - | Cation_efflux | 1:26368295 | 1:26041804 | 46 | 5.54 |
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197 | 197 | GLU | LYS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.072e-06 | rs758261486 | ENST00000374278 | deleterious(0) | possibly_damaging(0.472) | - | Cation_efflux | 1:26368293 | 1:26041802 | 3 | 5.54 |
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201 | 201 | VAL | ILE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.064e-06 | rs764921143 | ENST00000374278 | tolerated(0.15) | benign(0.006) | - | Cation_efflux | 1:26368281 | 1:26041790 | 56 | -1.08 |
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203 | 203 | PRO | LEU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.063e-06 | rs1201477461 | ENST00000374278 | deleterious(0) | probably_damaging(0.991) | - | Cation_efflux | 1:26368274 | 1:26041783 | 30 | 5.78 |
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204 | 204 | ILE | LEU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.062e-06 | rs1434061490 | ENST00000374278 | deleterious(0) | benign(0.204) | - | Cation_efflux | 1:26368272 | 1:26041781 | 3 | 2.17 |
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208 | 208 | VAL | ILE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 1.625e-05 | rs372442248 | ENST00000374278 | tolerated(0.19) | benign(0.003) | - | Cation_efflux | 1:26368260 | 1:26041769 | 56 | -1.7 |
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210 | 210 | SER | PRO | 3J1Z_P | MODEL | Damaging | Buried Pro introduced; Buried H-bond breakage | - | - | - | rs759768447 | ENST00000374278 | deleterious(0) | probably_damaging(0.996) | - | Cation_efflux | 1:26368254 | 1:26041763 | 25 | 5.78 |
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210 | 210 | SER | ALA | 3J1Z_P | MODEL | Damaging | Buried H-bond breakage | - | - | - | rs759768447 | ENST00000374278 | deleterious(0) | probably_damaging(0.996) | - | Cation_efflux | 1:26368254 | 1:26041763 | 25 | 5.78 |
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211 | 211 | ILE | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 2.031e-05 | rs202003978 | ENST00000374278 | deleterious(0.01) | benign(0.217) | - | Cation_efflux | 1:26368249 | 1:26041758 | 18 | 3.89 |
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220 | 220 | ILE | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.062e-06 | rs770233361 | ENST00000374278 | deleterious(0.01) | possibly_damaging(0.809) | - | Cation_efflux | 1:26368222 | 1:26041731 | 0 | 4.87 |
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220 | 220 | ILE | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.061e-06 | rs773717920 | ENST00000374278 | tolerated(0.09) | benign(0.417) | - | Cation_efflux | 1:26368223 | 1:26041732 | 87 | 5.78 |
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225 | 225 | ILE | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs1156792842 | ENST00000374278 | tolerated(0.08) | benign(0.021) | - | Cation_efflux | 1:26368208 | 1:26041717 | 67 | 4.47 |
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225 | 225 | ILE | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.062e-06 | rs781697562 | ENST00000374278 | deleterious(0.02) | benign(0.062) | - | Cation_efflux | 1:26368207 | 1:26041716 | 67 | 2.25 |
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228 | 228 | LEU | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.062e-06 | rs768406992 | ENST00000374278 | deleterious(0) | probably_damaging(0.995) | - | Cation_efflux | 1:26368200 | 1:26041709 | 30 | 3.68 |
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230 | 230 | GLU | LYS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.063e-06 | rs746722376 | ENST00000374278 | deleterious(0) | possibly_damaging(0.787) | - | - | 1:26368194 | 1:26041703 | 25 | 5.6 |
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232 | 232 | THR | ILE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.064e-06 | rs1485948229 | ENST00000374278 | deleterious(0) | benign(0.444) | - | - | 1:26366399 | 1:26039908 | 30 | 5.48 |
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233 | 233 | PRO | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.064e-06 | rs1208466104 | ENST00000374278 | deleterious(0.02) | probably_damaging(0.999) | - | - | 1:26366397 | 1:26039906 | 3 | 4.54 |
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235 | 235 | GLY | VAL | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | - | - | deleterious(0) | probably_damaging(0.979) | - | - | - | - | - | - |
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236 | 236 | VAL | ILE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 3.251e-05 | rs561828004 | ENST00000374278 | tolerated(0.33) | benign(0.038) | - | - | 1:26366388 | 1:26039897 | 42 | 0.19 |
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237 | 237 | ASP | ASN | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 1.219e-05 | rs755953666 | ENST00000374278 | tolerated(0.27) | benign(0.02) | - | - | 1:26366385 | 1:26039894 | 8 | 3.57 |
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241 | 241 | VAL | ILE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.126e-06 | rs369345160 | ENST00000374278 | deleterious(0.03) | possibly_damaging(0.669) | - | - | 1:26366373 | 1:26039882 | 56 | 5.48 |
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242 | 242 | ARG | HIS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 0.0006053 | rs149340896 | ENST00000374278 | deleterious(0) | benign(0.06) | - | - | 1:26366369 | 1:26039878 | 0 | 0.36 |
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242 | 242 | ARG | CYS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.063e-06 | rs752464790 | ENST00000374278 | deleterious(0) | possibly_damaging(0.849) | - | - | 1:26366370 | 1:26039879 | 8 | 2.3 |
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247 | 247 | SER | LEU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.064e-06 | rs1355400106 | ENST00000374278 | deleterious(0) | possibly_damaging(0.639) | - | - | 1:26366354 | 1:26039863 | 67 | 5.58 |
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248 | 248 | VAL | LEU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.127e-06 | rs765476846 | ENST00000374278 | tolerated(0.08) | benign(0.044) | - | - | 1:26366352 | 1:26039861 | 3 | 4.66 |
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250 | 250 | GLY | ARG | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.064e-05 | rs151175941 | ENST00000374278 | deleterious(0) | probably_damaging(0.99) | - | - | 1:26366346 | 1:26039855 | 25 | 5.58 |
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250 | 250 | GLY | TRP | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.064e-05 | rs151175941 | ENST00000374278 | deleterious(0) | probably_damaging(0.99) | - | - | 1:26366346 | 1:26039855 | 25 | 5.58 |
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251 | 251 | VAL | GLY | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs954913705 | ENST00000374278 | deleterious(0) | probably_damaging(1) | - | - | 1:26366342 | 1:26039851 | 0 | 4.46 |
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251 | 251 | VAL | LEU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.064e-06 | rs761084393 | ENST00000374278 | deleterious(0) | probably_damaging(0.992) | - | - | 1:26366343 | 1:26039852 | 8 | 5.58 |
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253 | 253 | ALA | ASP | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 6.097e-05 | rs775726067 | ENST00000374278 | deleterious(0.04) | benign(0.021) | - | - | 1:26366336 | 1:26039845 | 30 | 4.66 |
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260 | 260 | TRP | CYS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.065e-06 | rs1185652351 | ENST00000374278 | deleterious(0) | probably_damaging(1) | - | - | 1:26366314 | 1:26039823 | 30 | 5.58 |
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261 | 261 | ALA | VAL | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.066e-06 | rs773908149 | ENST00000374278 | deleterious(0) | probably_damaging(0.969) | - | - | 1:26366312 | 1:26039821 | 3 | 3.73 |
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263 | 263 | THR | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs1477109267 | ENST00000374278 | deleterious(0) | probably_damaging(0.994) | - | - | 1:26366306 | 1:26039815 | 76 | 4.54 |
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268 | 268 | VAL | ILE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.137e-06 | rs756377175 | ENST00000374278 | tolerated(0.66) | benign(0.02) | - | - | 1:26366292 | 1:26039801 | 76 | 3.44 |
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274 | 274 | ALA | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 0.0 | rs372456339 | ENST00000374278 | deleterious(0.02) | possibly_damaging(0.459) | - | - | 1:26366274 | 1:26039783 | 81 | 5.34 |
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275 | 275 | ILE | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.147e-06 | rs1292030846 | ENST00000374278 | tolerated(0.33) | benign(0.348) | - | - | 1:26366270 | 1:26039779 | 81 | 4.19 |
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281 | 281 | ALA | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 7.778e-05 | rs149723161 | ENST00000374278 | tolerated(0.21) | benign(0.017) | - | - | 1:26365782 | 1:26039291 | 70 | 3.79 |
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284 | 284 | VAL | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 8.168e-06 | rs779238960 | ENST00000374278 | deleterious(0.01) | probably_damaging(0.922) | - | - | 1:26365773 | 1:26039282 | 42 | 5.63 |
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286 | 286 | LYS | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | - | - | deleterious(0.05) | benign(0.1) | - | - | - | - | - | - |
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287 | 287 | THR | SER | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.078e-06 | rs753914698 | ENST00000374278 | tolerated(0.06) | benign(0.009) | - | - | 1:26365764 | 1:26039273 | 42 | 1.35 |
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287 | 287 | THR | ILE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.078e-06 | rs1281494136 | ENST00000374278 | deleterious(0.04) | benign(0.015) | - | - | 1:26365763 | 1:26039272 | 0 | -5.19 |
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289 | 289 | SER | ASN | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs1158602096 | ENST00000374278 | deleterious(0.03) | benign(0.007) | - | - | 1:26365757 | 1:26039266 | 36 | 2.73 |
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290 | 290 | SER | ARG | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.074e-06 | rs764331750 | ENST00000374278 | tolerated(0.68) | benign(0.003) | - | - | 1:26365755 | 1:26039264 | 36 | -11.1 |
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294 | 294 | GLY | GLU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | - | - | tolerated(0.65) | benign(0.004) | - | - | - | - | - | - |
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295 | 295 | LYS | ASN | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.068e-06 | rs767902776 | ENST00000374278 | tolerated(0.15) | benign(0.099) | - | - | 1:26365738 | 1:26039247 | 60 | 3.72 |
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297 | 297 | HIS | TYR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.067e-06 | rs1288268862 | ENST00000374278 | tolerated(0.91) | benign(0) | - | - | 1:26365734 | 1:26039243 | 13 | 1.21 |
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297 | 297 | HIS | ASN | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.067e-06 | rs1288268862 | ENST00000374278 | tolerated(0.91) | benign(0) | - | - | 1:26365734 | 1:26039243 | 13 | 1.21 |
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297 | 297 | HIS | ASP | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.067e-06 | rs1288268862 | ENST00000374278 | tolerated(0.91) | benign(0) | - | - | 1:26365734 | 1:26039243 | 13 | 1.21 |
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300 | 300 | THR | ILE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs1418181289 | ENST00000374278 | deleterious(0.02) | benign(0.02) | - | - | 1:26365724 | 1:26039233 | 56 | 4.69 |
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301 | 301 | VAL | MET | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 6.913e-05 | rs144832711 | ENST00000374278 | tolerated(0.63) | benign(0.066) | - | - | 1:26365722 | 1:26039231 | 56 | 2.11 |
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303 | 303 | ILE | PHE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.066e-06 | rs1433795979 | ENST00000374278 | deleterious(0.01) | possibly_damaging(0.737) | - | - | 1:26365716 | 1:26039225 | 25 | 5.52 |
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306 | 306 | GLU | LYS | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.066e-06 | rs377192955 | ENST00000374278 | deleterious(0) | probably_damaging(0.998) | - | - | 1:26365707 | 1:26039216 | 42 | 5.52 |
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309 | 309 | SER | LEU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs1269431598 | ENST00000374278 | tolerated(0.08) | benign(0.037) | - | - | 1:26365697 | 1:26039206 | 70 | 1.27 |
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312 | 312 | MET | ILE | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | rs1285635055 | ENST00000374278 | tolerated(0.12) | benign(0.27) | - | - | 1:26365687 | 1:26039196 | 82 | 4.61 |
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312 | 312 | MET | LEU | 3J1Z_P | MODEL | Neutral | none predicted | - | - | 4.064e-06 | rs1185357133 | ENST00000374278 | tolerated(0.21) | benign(0.115) | - | - | 1:26365689 | 1:26039198 | 70 | 5.52 |
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312 | 312 | MET | THR | 3J1Z_P | MODEL | Neutral | none predicted | - | - | - | - | - | deleterious(0.05) | benign(0.356) | - | - | - | - | - | - |
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