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SNP linked to Gene (geneID:1278) Via Contig Annotation

rs# on all gene models to Batch Query
all rs# to file.

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 1
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_000089.3plus strandNP_000080.2forwardNT_007933.16GRCh38.p7<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_007933.16NM_000089.3NP_000080.2forwardplus strand1028, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Clinically
Function dbSNP
Amino acid
94395043483 rs762106932 0.000 missenseGLeu [L]34
contig referenceTPhe [F]34
94395051491 rs543810166 0.000byFreqWith1000GenomeData0.0002 missenseGArg [R]27
contig referenceCThr [T]27
94395060500 rs758795377 0.000byFreq missenseCSer [S]210
contig referenceTLeu [L]210
94395065505 rs766918040 0.000 synonymousTLeu [L]112
contig referenceCLeu [L]112
94395072512 rs988694359 N.D. AGTVal [V]215
94395078518 rs752079706 0.000byFreq missenseGSer [S]216
contig referenceCThr [T]216
94395079519 rs780687409 0.000byFreq synonymousTThr [T]316
contig referenceCThr [T]316
94395083523 rs200278401 0.000byClusterbyFreq missenseCArg [R]118
contig referenceTCys [C]118
94395085525 rs755856571 0.000 missenseGTrp [W]318
contig referenceCCys [C]318
94395086526 rs971349366 N.D. synonymousTLeu [L]119
contig referenceCLeu [L]119
94395089529 rs777426777 0.000byFreq missenseAThr [T]120
contig referenceGAla [A]120
94395091531 rs779022418 N.D. synonymousCAla [A]320
contig referenceAAla [A]320
94395093533 rs749148117 0.000 missenseTIle [I]221
contig referenceCThr [T]221
94395097537 rs192298378 N.D.With1000GenomeData synonymousTCys [C]322
contig referenceCCys [C]322
94395100540 rs770754442 0.000byFreq synonymousGGln [Q]323
contig referenceAGln [Q]323
94397748542 rs763546006 0.000byFreq Uncertain significancemissenseTPhe [F]224
contig referenceCSer [S]224
94397749543 rs753471051 0.000 synonymousCSer [S]324
contig referenceTSer [S]324
94397755549 rs757027144 0.000 synonymousGGln [Q]326
contig referenceAGln [Q]326
94398387558 rs1801182 0.230byClusterbyFreqwithHapMapFreqWith1000GenomeData0.2051 Benign synonymousCThr [T]329
contig referenceTThr [T]329
94398390561 rs766090050 0.000 synonymousGVal [V]330
contig referenceAVal [V]330
94398393564 rs751459545 0.000 synonymousGArg [R]331
contig referenceAArg [R]331
94398394565 rs879302275 N.D. missenseGGlu [E]132
contig referenceALys [K]132
94399057576 rs533917998 0.000With1000GenomeData0.0002 synonymousTAla [A]335
contig referenceCAla [A]335
94399058577 rs368447157 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAArg [R]136
contig referenceGGly [G]136
94399064583 rs776258611 0.000 missenseGGly [G]138
contig referenceAArg [R]138
94399068587 rs761354203 0.000 missenseCAla [A]239
contig referenceGGly [G]239
94399073592 rs769457034 0.000 missenseTCys [C]141
contig referenceCArg [R]141
94399074593 rs139528613 0.002byClusterbyFreqWith1000GenomeData0.0030 Likely benignmissenseAHis [H]241
contig referenceGArg [R]241
94399077596 rs762706669 0.000 missenseAGlu [E]242
contig referenceGGly [G]242
94399083602 rs766185493 0.000 missenseALys [K]244
contig referenceGArg [R]244
94400201609 rs148639088 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousCPro [P]346
contig referenceAPro [P]346
94400202610 rs771800420 0.000byFreq missenseAThr [T]147
missenseTSer [S]147
contig referenceCPro [P]147
94400208616 rs760571966 0.000 missenseAThr [T]149
contig referenceCPro [P]149
94400209617 rs764064979 0.000byFreq missenseAHis [H]249
missenseTLeu [L]249
contig referenceCPro [P]249
94400211619 rs879344129 N.D.byCluster missenseGAla [A]150
missenseTSer [S]150
contig referenceCPro [P]150
94400212620 rs377637698 0.000byClusterbyFreq missenseAGln [Q]250
missenseGArg [R]250
contig referenceCPro [P]250
94400213621 rs369695645 0.000byClusterbyFreq synonymousCPro [P]350
contig referenceAPro [P]350
94400218626 rs561632203 0.000With1000GenomeData0.0002 missenseCThr [T]252
contig referenceGArg [R]252
94400219627 rs767987949 0.000 synonymousGArg [R]352
contig referenceAArg [R]352
94400222630 rs201699348 0.000byClusterWith1000GenomeData0.0002 missenseGGlu [E]353
contig referenceTAsp [D]353
94400224632 rs756667586 0.000 missenseAAsp [D]254
contig referenceGGly [G]254
94400232640 rs201137000 0.000byClusterbyFreq missenseASer [S]157
contig referenceGGly [G]157
94400238646 rs1800221 N.D. missenseCPro [P]159
contig referenceAThr [T]159
94400241649 rs267601641 0.000byCluster missenseASer [S]160
contig referenceGGly [G]160
94400243651 rs756659600 0.000byFreq synonymousTGly [G]360
contig referenceCGly [G]360
94400246654 rs779932887 0.000 (9bp) [PPG]372
94400261669 rs778502385 0.000 synonymousAGly [G]366
contig referenceTGly [G]366
94400264672 rs753406780 0.000 (9bp) [PPG]372
94400267675 rs745496110 0.000 synonymousAPro [P]368
contig referenceTPro [P]368
94400271679 rs771749616 0.000byFreq missenseTSer [S]170
contig referenceCPro [P]170
94400274682 rs775240284 0.000 missenseTSer [S]171
contig referenceCPro [P]171
94400276684 rs374356493 0.000byCluster synonymousCPro [P]371
contig referenceTPro [P]371
94400282690 rs768467735 0.000byFreq synonymousTLeu [L]373
contig referenceCLeu [L]373
94400283691 rs776365460 0.000byFreq missenseASer [S]174
contig referenceGGly [G]174
94400285693 rs761823309 0.000 synonymousCGly [G]374
contig referenceTGly [G]374
94401587717 rs1800222 0.288byClusterbyFreqwithHapMapFreqWith1000GenomeData0.3043 Benign synonymousCAsp [D]382
contig referenceTAsp [D]382
94401596726 rs772309296 0.000byFreq synonymousCGly [G]385
synonymousGGly [G]385
contig referenceAGly [G]385
94401597727 rs777971816 0.000byCluster missenseCLeu [L]186
contig referenceGVal [V]186
94401605735 rs965099657 N.D. synonymousALeu [L]388
contig referenceTLeu [L]388
94401612742 rs764355552 0.000 missenseAArg [R]191
contig referenceGGly [G]191
94401613743 rs974016384 N.D. missenseCAla [A]291
contig referenceGGly [G]291
94401614744 rs754298725 0.000byFreq synonymousGGly [G]391
contig referenceAGly [G]391
94401620750 rs72656356 N.D. missenseAIle [I]393
contig referenceGMet [M]393
94404558753 rs992225434 N.D. synonymousTGly [G]394
contig referenceCGly [G]394
94404561756 rs918955690 N.D. synonymousGLeu [L]395
contig referenceALeu [L]395
94404562757 rs763509640 0.000byFreq missenseGVal [V]196
contig referenceAMet [M]196
94404563758 rs1026230498 N.D. missenseALys [K]296
contig referenceTMet [M]296
94404568763 rs765868569 0.000 missenseTSer [S]198
contig referenceCPro [P]198
94404569764 rs797044459 N.D. Pathogenicframe shiftC299
contig reference-Arg [R]299
94404576771 rs751107938 0.000byFreq synonymousTGly [G]3100
contig referenceCGly [G]3100
94404580775 rs189557655 0.002byClusterbyFreqWith1000GenomeData0.0002 missenseTSer [S]1102
contig referenceCPro [P]1102
94404581776 rs780850548 0.000 missenseGArg [R]2102
contig referenceCPro [P]2102
94404586781 rs368044698 0.000byClusterbyFreq missenseAThr [T]1104
contig referenceGAla [A]1104
94404597792 rs755872541 0.000 synonymousAAla [A]3107
contig referenceCAla [A]3107
94404598793 rs777727443 0.000 missenseAThr [T]1108
contig referenceCPro [P]1108
94404695798 rs748328216 0.000 synonymousTGly [G]3109
contig referenceCGly [G]3109
94404697800 rs770180852 0.000byFreq missenseTLeu [L]2110
contig referenceCPro [P]2110
94404714817 rs532334520 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAThr [T]1116
contig referenceCPro [P]1116
94404719822 rs763417626 0.000byFreq synonymousAAla [A]3117
contig referenceTAla [A]3117
94404721824 rs72656358 N.D. missenseAAsp [D]2118
contig referenceGGly [G]2118
94404722825 rs964446416 N.D. synonymousCGly [G]3118
contig referenceTGly [G]3118
94404731834 rs766919910 0.000 synonymousCGly [G]3121
contig referenceTGly [G]3121
94404735838 rs774383359 N.D. missenseTSer [S]1123
contig referenceCPro [P]1123
94404739842 rs72656359 N.D. missenseAAsp [D]2124
contig referenceGGly [G]2124
94404740843 rs530944722 0.000byFreqWith1000GenomeData0.0002 synonymousCGly [G]3124
synonymousGGly [G]3124
contig referenceTGly [G]3124
94404743846 rs141344424 0.000With1000GenomeData0.0002 synonymousGGln [Q]3125
contig referenceAGln [Q]3125
94404842853 rs774774401 0.000byFreq missenseTSer [S]1128
contig referenceCPro [P]1128
94404844855 rs767043956 0.000 synonymousAPro [P]3128
contig referenceTPro [P]3128
94404849860 rs72656360 N.D. missenseAAsp [D]2130
contig referenceGGly [G]2130
94404854865 rs774934546 0.000byFreq missenseGGly [G]1132
missenseTCys [C]1132
contig referenceCArg [R]1132
94404855866 rs372678526 0.000byClusterbyFreq missenseAHis [H]2132
contig referenceGArg [R]2132
94404857868 rs72656361 N.D. missenseASer [S]1133
contig referenceGGly [G]1133
94404861872 rs546898939 0.000With1000GenomeData0.0002 missenseTLeu [L]2134
contig referenceCPro [P]2134
94404862873 rs757043526 0.000 synonymousCPro [P]3134
contig referenceAPro [P]3134
94404881892 rs765133216 0.000 missenseAThr [T]1141
contig referenceGAla [A]1141
94404886897 rs750357212 0.000 synonymousGGly [G]3142
contig referenceTGly [G]3142
94404887898 rs200403666 0.000byClusterWith1000GenomeData0.0002 missenseALys [K]1143
contig referenceGGlu [E]1143
94404889900 rs781301553 0.000 missenseCAsp [D]3143
contig referenceAGlu [E]3143
94404890901 rs981008420 N.D. missenseAAsn [N]1144
contig referenceGAsp [D]1144
94405206911 rs761611783 0.000 missenseTLeu [L]2147
contig referenceCPro [P]2147
94405221926 rs765116624 0.000byFreq missenseAGln [Q]2152
contig referenceGArg [R]2152
94405230935 rs556168739 N.D. missenseCAla [A]2155
contig referenceAGlu [E]2155
94405238943 rs750224681 0.000 missenseAIle [I]1158
contig referenceGVal [V]1158
94405241946 rs886062514 N.D. Uncertain significancemissenseAIle [I]1159
contig referenceGVal [V]1159
94405676961 rs772512344 0.000byFreq missenseAThr [T]1164
contig referenceGAla [A]1164
94405680965 rs780355349 0.000byFreq missenseAHis [H]2165
contig referenceGArg [R]2165
94405683968 rs72656366 0.000byCluster YesmissenseTVal [V]2166
contig referenceGGly [G]2166
94405701986 rs768263997 0.000 missenseTVal [V]2172
contig referenceGGly [G]2172
94405708993 rs776343950 0.000 synonymousCPro [P]3174
contig referenceTPro [P]3174
94405712997 rs370234887 0.000byClusterbyFreq YesmissenseCLeu [L]1176
contig referenceTPhe [F]1176
944057161001 rs769380961 0.000 missenseGArg [R]2177
contig referenceALys [K]2177
944057231008 rs772938416 0.000 synonymousAIle [I]3179
contig referenceTIle [I]3179
944062531015 rs72656368 N.D. YesmissenseGAsp [D]1182
contig referenceCHis [H]1182
944062541016 rs113290292 0.500 YesmissenseGArg [R]2182
contig referenceAHis [H]2182
944062761038 rs758629634 0.000 missenseCAsn [N]3189
contig referenceGLys [K]3189
944062781040 rs72656369 N.D. YesmissenseTVal [V]2190
contig referenceGGly [G]2190
944062821044 rs780523359 0.000 missenseCHis [H]3191
contig referenceGGln [Q]3191
944062831045 rs146853345 0.000 YesmissenseGAla [A]1192
contig referenceCPro [P]1192
944062851047 rs140656978 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousGPro [P]3192
synonymousTPro [P]3192
contig referenceCPro [P]3192
944062861048 rs72656370 0.000byCluster YesPathogenicmissenseASer [S]1193
contig referenceGGly [G]1193
944062871049 rs72656371 N.D. YesmissenseAAsp [D]2193
contig referenceGGly [G]2193
944062911053 rs144540908 0.004byClusterbyFreqWith1000GenomeData0.0008 YessynonymousGAla [A]3194
contig referenceTAla [A]3194
944062981060 rs769376286 0.000 missenseAMet [M]1197
contig referenceGVal [V]1197
944063021064 rs772672797 0.000 missenseGArg [R]2198
contig referenceALys [K]2198
944063031065 rs548276247 0.000With1000GenomeData0.0002 missenseTAsn [N]3198
contig referenceGLys [K]3198
944078561075 rs72656376 N.D. YesmissenseCArg [R]1202
contig referenceGGly [G]1202
944078571076 rs72656377 N.D. YesmissenseAAsp [D]2202
contig referenceGGly [G]2202
944078631082 rs146632642 0.000byClusterbyFreq YesmissenseAHis [H]2204
contig referenceCPro [P]2204
944078841103 rs72656378 N.D. YesmissenseAAsp [D]2211
contig referenceGGly [G]2211
944078871106 rs774114240 0.000 missenseCPro [P]2212
contig referenceAGln [Q]2212
944078911110 rs1015392105 N.D. synonymousGThr [T]3213
contig referenceAThr [T]3213
944081871115 rs753438416 0.000 missenseTVal [V]2215
contig referenceCAla [A]2215
944081901118 rs756743425 0.000byFreq missenseAHis [H]2216
contig referenceGArg [R]2216
944081931121 rs72656380 N.D. YesmissenseTVal [V]2217
contig referenceGGly [G]2217
944081941122 rs1800223 N.D. YessynonymousTGly [G]3217
contig referenceGGly [G]3217
944081981126 rs778499438 0.000byFreq missenseAThr [T]1219
missenseTSer [S]1219
contig referenceCPro [P]1219
944082001128 rs771837515 0.000 synonymousGPro [P]3219
contig referenceTPro [P]3219
944082021130 rs779887555 0.000 missenseCAla [A]2220
contig referenceGGly [G]2220
944082031131 rs746887380 0.000 synonymousCGly [G]3220
contig referenceTGly [G]3220
944082081136 rs768685440 0.000 missenseALys [K]2222
contig referenceGArg [R]2222
944082111139 rs776453550 0.000byFreq missenseAGlu [E]2223
contig referenceGGly [G]2223
944082131141 rs763047559 0.000byFreq missenseASer [S]1224
contig referenceCArg [R]1224
944082141142 rs771139732 0.000byFreq missenseAHis [H]2224
contig referenceGArg [R]2224
944082201148 rs193922173 N.D. Likely pathogenicmissenseAAsp [D]2226
contig referenceGGly [G]2226
944082221150 rs375401215 0.002byClusterbyFreqWith1000GenomeData0.0012 missenseAThr [T]1227
contig referenceGAla [A]1227
944082301158 rs1800224 N.D. synonymousTGly [G]3229
contig referenceCGly [G]3229
944083391168 rs748048512 0.000 missenseAThr [T]1233
contig referenceGAla [A]1233
944083431172 rs376341785 0.000byClusterbyFreq missenseAHis [H]2234
missenseCPro [P]2234
missenseTLeu [L]2234
contig referenceGArg [R]2234
944083471176 rs1800225 N.D. synonymousAGly [G]3235
contig referenceCGly [G]3235
944083521181 rs75583081 N.D.byCluster missenseGGly [G]2237
contig referenceAAsp [D]2237
944083531182 rs759800994 0.000 synonymousCAsp [D]3237
contig referenceTAsp [D]3237
944083561185 rs915540566 N.D. synonymousCGly [G]3238
contig referenceAGly [G]3238
944083581187 rs772473302 0.000 missenseAAsn [N]2239
contig referenceGSer [S]2239
944083601189 rs775599249 0.000byFreq missenseTLeu [L]1240
contig referenceGVal [V]1240
944083681197 rs761063195 0.000 synonymousTPro [P]3242
contig referenceCPro [P]3242
944083691198 rs764373659 0.000byFreq missenseAMet [M]1243
missenseTLeu [L]1243
contig referenceGVal [V]1243
944087711211 rs72656384 N.D. missenseAAsp [D]2247
contig referenceGGly [G]2247
944087731213 rs769055494 0.000byFreq missenseTSer [S]1248
contig referenceCPro [P]1248
944087751215 rs1800227 N.D. synonymousTPro [P]3248
contig referenceCPro [P]3248
944087771217 rs1800228 N.D. missenseAAsn [N]2249
contig referenceTIle [I]2249
944087811221 rs776896858 0.000 synonymousTGly [G]3250
contig referenceGGly [G]3250
944087891229 rs72656385 N.D. missenseAAsp [D]2253
contig referenceGGly [G]2253
944087981238 rs67525025 N.D.byCluster missenseAAsp [D]2256
missenseAAsp [D]2256
missenseTVal [V]2256
missenseTVal [V]2256
contig referenceGGly [G]2256
contig referenceGGly [G]2256
944087991239 rs1800229 0.000 synonymousAGly [G]3256
contig referenceCGly [G]3256
944088051245 rs998530513 N.D. synonymousGPro [P]3258
contig referenceAPro [P]3258
944088061246 rs121912905 N.D.byCluster PathogenicmissenseTCys [C]1259
contig referenceGGly [G]1259
944088121252 rs141075408 0.000byClusterbyFreq missenseAThr [T]1261
missenseTSer [S]1261
contig referenceCPro [P]1261
944088141254 rs200436925 0.000byClusterbyFreqWith1000GenomeData0.0006 Likely benignsynonymousCPro [P]3261
contig referenceTPro [P]3261
944088171257 rs1800230 N.D. synonymousTGly [G]3262
contig referenceCGly [G]3262
944088191259 rs765818365 0.000 missenseGArg [R]2263
contig referenceCPro [P]2263
944093231265 rs72656386 N.D. missenseAAsp [D]2265
contig referenceGGly [G]2265
944093241266 rs944942328 N.D. synonymousAGly [G]3265
contig referenceTGly [G]3265
944093371279 rs368468 0.003byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0004 Likely benignmissenseAIle [I]1270
contig referenceGVal [V]1270
944093381280 rs369720952 0.000byCluster missenseCAla [A]2270
contig referenceTVal [V]2270
944093451287 rs774553579 0.000 (9bp) [AGP]3281
944093461288 rs759205514 0.000byFreq missenseAThr [T]1273
contig referenceGAla [A]1273
944093501292 rs67675951 N.D.byCluster missenseAAsp [D]2274
missenseAAsp [D]2274
missenseTVal [V]2274
missenseTVal [V]2274
contig referenceGGly [G]2274
contig referenceGGly [G]2274
944093521294 rs370881635 0.000byCluster missenseTSer [S]1275
contig referenceCPro [P]1275
944093551297 rs1800231 N.D. missenseAThr [T]1276
contig referenceGAla [A]1276
944093591301 rs752431578 0.000byFreq missenseCAla [A]2277
contig referenceGGly [G]2277
944093601302 rs1800232 N.D. synonymousAGly [G]3277
contig referenceTGly [G]3277
944093631305 rs760482884 0.000 synonymousTPro [P]3278
contig referenceCPro [P]3278
944093641306 rs374616916 0.000byClusterbyFreq missenseAThr [T]1279
contig referenceGAla [A]1279
944093661308 rs1009671128 N.D. synonymousTAla [A]3279
contig referenceCAla [A]3279
944093671309 rs72656387 0.000byCluster PathogenicmissenseASer [S]1280
contig referenceGGly [G]1280
944093701312 rs934690138 N.D. missenseAThr [T]1281
contig referenceCPro [P]1281
944093741316 rs542393716 0.000byClusterbyFreqWith1000GenomeData0.0008 missenseAHis [H]2282
contig referenceGArg [R]2282
944093771319 rs193922175 N.D. Likely pathogenic-2283
944093791321 rs1054900983 N.D. missenseALys [K]1284
contig referenceGGlu [E]1284
944093821324 rs751541809 0.000byFreq missenseAMet [M]1285
missenseTLeu [L]1285
contig referenceGVal [V]1285
944093841326 rs185254570 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousCVal [V]3285
contig referenceGVal [V]3285
944093861328 rs67210352 N.D.byCluster missenseCAla [A]2286
missenseCAla [A]2286
missenseTVal [V]2286
missenseTVal [V]2286
contig referenceGGly [G]2286
contig referenceGGly [G]2286
944093951337 rs67031201 N.D.byCluster missenseCAla [A]2289
missenseCAla [A]2289
missenseTVal [V]2289
missenseTVal [V]2289
contig referenceGGly [G]2289
contig referenceGGly [G]2289
944093961338 rs748381000 0.000byFreq synonymousAGly [G]3289
contig referenceCGly [G]3289
944094011343 rs893210028 N.D. missenseTPhe [F]2291
contig referenceCSer [S]2291
944094021344 rs770128801 0.000byFreq synonymousTSer [S]3291
contig referenceCSer [S]3291
944094031345 rs906553840 N.D. missenseASer [S]1292
contig referenceGGly [G]1292
944094081350 rs780283556 N.D. synonymousTPro [P]3293
contig referenceCPro [P]3293
944094091351 rs145693444 0.000byClusterbyFreqWith1000GenomeData0.0010 Uncertain significancemissenseAIle [I]1294
missenseTPhe [F]1294
contig referenceGVal [V]1294
944094131355 rs72656388 N.D. missenseTVal [V]2295
contig referenceGGly [G]2295
944094141356 rs148959032 0.000byCluster synonymousGGly [G]3295
contig referenceAGly [G]3295
944094191361 rs370146896 0.000byCluster missenseTLeu [L]2297
contig referenceCPro [P]2297
944094201362 rs774946139 0.000 synonymousGPro [P]3297
contig referenceTPro [P]3297
944095641363 rs72656389 N.D. missenseCArg [R]1298
contig referenceGGly [G]1298
944095721371 rs375942029 0.000byClusterbyFreq synonymousCPro [P]3300
contig referenceTPro [P]3300
944095811380 rs985639597 N.D. synonymousTAsn [N]3303
contig referenceCAsn [N]3303
944095821381 rs1054264002 N.D. missenseASer [S]1304
contig referenceGGly [G]1304
944095921391 rs72656390 N.D. missenseAAsp [D]2307
contig referenceGGly [G]2307
944095991398 rs746402161 0.000byFreq synonymousALys [K]3309
contig referenceGLys [K]3309
944096001399 rs72656391 N.D. missenseCArg [R]1310
contig referenceGGly [G]1310
944096031402 rs1017705477 N.D. missenseAThr [T]1311
contig referenceGAla [A]1311
944096051404 rs771698061 0.000 synonymousAAla [A]3311
contig referenceTAla [A]3311
944097251410 rs776087749 0.000byFreq synonymousAGly [G]3313
contig referenceCGly [G]3313
944097281413 rs780887310 N.D. synonymousCLeu [L]3314
contig referenceTLeu [L]3314
944097311416 rs147058179 0.000byClusterbyFreqWith1000GenomeData0.0006 Likely benignsynonymousTPro [P]3315
contig referenceCPro [P]3315
944097321417 rs72656392 N.D. missenseCArg [R]1316
contig referenceGGly [G]1316
944097341419 rs34511999 0.017byClusterbyFreqWith1000GenomeData0.0032 othersynonymousTGly [G]3316
contig referenceCGly [G]3316
944097351420 rs142803502 0.000byClusterbyFreq missenseAIle [I]1317
contig referenceGVal [V]1317
944097411426 rs72656393 N.D. missenseAArg [R]1319
contig referenceGGly [G]1319
944097431428 rs762777785 0.000 synonymousCGly [G]3319
contig referenceGGly [G]3319
944097491434 rs147021092 0.000byClusterbyFreq synonymousTPro [P]3321
contig referenceCPro [P]3321
944097501435 rs72656394 N.D. missenseASer [S]1322
contig referenceGGly [G]1322
944097601445 rs72656395 N.D. missenseAGlu [E]2325
contig referenceGGly [G]2325
944097611446 rs148063325 0.002byClusterbyFreqWith1000GenomeData0.0014 synonymousTGly [G]3325
contig referenceAGly [G]3325
944097651450 rs760682336 0.000 missenseTCys [C]1327
contig referenceCArg [R]1327
944097661451 rs764174111 0.000byFreq missenseAHis [H]2327
contig referenceGArg [R]2327
944097671452 rs141762645 0.001byClusterbyFreqWith1000GenomeData0.0004 synonymousTArg [R]3327
contig referenceCArg [R]3327
944097681453 rs66612022 N.D.byCluster missenseASer [S]1328
missenseASer [S]1328
missenseTCys [C]1328
missenseTCys [C]1328
contig referenceGGly [G]1328
contig referenceGGly [G]1328
944097691454 rs72656396 N.D. PathogenicmissenseAAsp [D]2328
contig referenceGGly [G]2328
944097781463 rs67729041 N.D.byCluster missenseAAsp [D]2331
missenseAAsp [D]2331
missenseTVal [V]2331
missenseTVal [V]2331
contig referenceGGly [G]2331
contig referenceGGly [G]2331
944097861471 rs72656397 N.D. missenseASer [S]1334
contig referenceGGly [G]1334
944097921477 rs757569298 0.000 missenseTSer [S]1336
contig referenceGAla [A]1336
944097941479 rs138357977 0.000byClusterbyFreqWith1000GenomeData0.0008 synonymousTAla [A]3336
contig referenceCAla [A]3336
944097951480 rs67865220 N.D.byCluster missenseASer [S]1337
missenseASer [S]1337
missenseASer [S]1337
missenseCArg [R]1337
missenseCArg [R]1337
missenseCArg [R]1337
missenseTCys [C]1337
missenseTCys [C]1337
missenseTCys [C]1337
contig referenceGGly [G]1337
contig referenceGGly [G]1337
contig referenceGGly [G]1337
944098001485 rs750852404 0.000 synonymousAAla [A]3338
contig referenceTAla [A]3338
944098011486 rs374718116 0.000 missenseGAla [A]1339
contig referenceAThr [T]1339
944098041489 rs67180473 N.D.byCluster missenseASer [S]1340
missenseASer [S]1340
missenseCArg [R]1340
missenseCArg [R]1340
contig referenceGGly [G]1340
contig referenceGGly [G]1340
944098071492 rs758861478 0.000 missenseAThr [T]1341
contig referenceGAla [A]1341
944098161501 rs16868573 0.004byClusterwithHapMapFreq YesmissenseGVal [V]1344
contig referenceCLeu [L]1344
944102421507 rs66547671 0.000byClusterWith1000GenomeData0.0002 YesmissenseASer [S]1346
missenseASer [S]1346
missenseCArg [R]1346
missenseCArg [R]1346
missenseTCys [C]1346
missenseTCys [C]1346
contig referenceGGly [G]1346
contig referenceGGly [G]1346
944102511516 rs66773001 N.D.byCluster YesmissenseASer [S]1349
missenseASer [S]1349
missenseTCys [C]1349
missenseTCys [C]1349
contig referenceGGly [G]1349
contig referenceGGly [G]1349
944102541519 rs201463779 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTSer [S]1350
contig referenceCPro [P]1350
944102551520 rs866949350 N.D. missenseTLeu [L]2350
contig referenceCPro [P]2350
944102561521 rs1055249689 N.D. synonymousCPro [P]3350
contig referenceAPro [P]3350
944102571522 rs755610740 0.000 Uncertain significancemissenseAThr [T]1351
contig referenceGAla [A]1351
944102731538 rs780555519 0.000 missenseGGly [G]2356
contig referenceAGlu [E]2356
944102771542 rs752193830 0.000 synonymousTSer [S]3357
contig referenceCSer [S]3357
944102781543 rs66619856 N.D.byCluster YesmissenseASer [S]1358
missenseASer [S]1358
missenseTCys [C]1358
missenseTCys [C]1358
contig referenceGGly [G]1358
contig referenceGGly [G]1358
944102821547 rs755584404 0.000byFreq Uncertain significancemissenseGSer [S]2359
contig referenceAAsn [N]2359
944102921557 rs200284501 0.000byClusterbyFreq YessynonymousAGlu [E]3362
contig referenceGGlu [E]3362
944102951560 rs748961276 0.000byFreq synonymousTPro [P]3363
contig referenceCPro [P]3363
944104201561 rs72656401 N.D. YesmissenseASer [S]1364
contig referenceGGly [G]1364
944104251566 rs1800233 N.D. YessynonymousCSer [S]3365
contig referenceTSer [S]3365
944104271568 rs970370751 N.D. missenseGGly [G]2366
contig referenceCAla [A]2366
944104291570 rs72656402 N.D.byCluster YesPathogenicmissenseTTrp [W]1367
contig referenceGGly [G]1367
944104311572 rs1800237 N.D. YessynonymousTGly [G]3367
contig referenceGGly [G]3367
944104371578 rs776853005 N.D. synonymousGGln [Q]3369
contig referenceAGln [Q]3369
944104381579 rs72658103 N.D. YesPathogenicmissenseASer [S]1370
contig referenceGGly [G]1370
944104391580 rs72658104 N.D. YesmissenseCAla [A]2370
contig referenceGGly [G]2370
944104431584 rs547506739 N.D.byCluster synonymousCPro [P]3371
contig referenceTPro [P]3371
944104451586 rs980096146 N.D. missenseTLeu [L]2372
contig referenceCPro [P]2372
944104511592 rs928643086 N.D. missenseTLeu [L]2374
contig referenceCPro [P]2374
944104541595 rs960097072 N.D. missenseCThr [T]2375
contig referenceGSer [S]2375
944104571598 rs67543427 N.D.byCluster YesmissenseAAsp [D]2376
missenseAAsp [D]2376
missenseTVal [V]2376
missenseTVal [V]2376
contig referenceGGly [G]2376
contig referenceGGly [G]2376
944104651606 rs786205587 N.D. Likely pathogenicmissenseAArg [R]1379
contig referenceGGly [G]1379
944104661607 rs121912912 N.D. YesPathogenicmissenseCAla [A]2379
contig referenceGGly [G]2379
944104781619 rs193922159 0.000byCluster YesLikely pathogenicmissenseAHis [H]2383
contig referenceCPro [P]2383
944104841625 rs72658105 N.D. YesmissenseAGlu [E]2385
contig referenceGGly [G]2385
944104881629 rs753174426 0.000 synonymousGGlu [E]3386
contig referenceAGlu [E]3386
944104891630 rs972825197 N.D. missenseCPro [P]1387
contig referenceGAla [A]1387
944104931634 rs72658106 N.D. YesmissenseTVal [V]2388
contig referenceGGly [G]2388
944104961637 rs575606141 0.000With1000GenomeData0.0002 missenseTPhe [F]2389
contig referenceCSer [S]2389
944104981639 rs763560185 0.000byFreq missenseCPro [P]1390
contig referenceGAla [A]1390
944105001641 rs753455668 0.000 synonymousTAla [A]3390
contig referenceCAla [A]3390
944105011642 rs67707918 N.D.byCluster YesmissenseASer [S]1391
missenseASer [S]1391
missenseTCys [C]1391
missenseTCys [C]1391
contig referenceGGly [G]1391
contig referenceGGly [G]1391
944105161657 rs886062515 N.D. Uncertain significancemissenseTSer [S]1396
contig referenceCPro [P]1396
944108971677 rs773494330 0.000 synonymousCPro [P]3402
contig referenceTPro [P]3402
944109041684 rs749509413 0.000byFreq missenseTCys [C]1405
contig referenceCArg [R]1405
944109051685 rs368702549 0.000byClusterbyFreq YesmissenseAHis [H]2405
contig referenceGArg [R]2405
944109061686 rs942842623 N.D. synonymousCArg [R]3405
contig referenceTArg [R]3405
944109071687 rs72658108 N.D. YesmissenseASer [S]1406
contig referenceGGly [G]1406
944109091689 rs774720286 0.000 synonymousAGly [G]3406
contig referenceTGly [G]3406
944109171697 rs72658109 N.D. YesmissenseTVal [V]2409
contig referenceGGly [G]2409
944109361716 rs752359132 0.000 synonymousTGly [G]3415
contig referenceCGly [G]3415
944109371717 rs550867796 0.000byFreqWith1000GenomeData0.0002 missenseAIle [I]1416
contig referenceGVal [V]1416
944109391719 rs776042293 0.000byFreq synonymousTVal [V]3416
contig referenceCVal [V]3416
944109401720 rs761124794 0.000byFreq missenseGVal [V]1417
contig referenceAMet [M]1417
944110561723 rs72658110 N.D. YesmissenseASer [S]1418
contig referenceGGly [G]1418
944110571724 rs72658111 N.D. YesmissenseAAsp [D]2418
contig referenceGGly [G]2418
944110591726 rs761268898 0.000 missenseTSer [S]1419
contig referenceCPro [P]1419
944110611728 rs969437351 N.D. synonymousCPro [P]3419
contig referenceTPro [P]3419
944110661733 rs267606741 N.D. YesPathogenicmissenseAAsp [D]2421
contig referenceGGly [G]2421
944110721739 rs764780528 0.000byFreq missenseAHis [H]2423
contig referenceGArg [R]2423
944110741741 rs72658112 N.D. YesmissenseASer [S]1424
contig referenceGGly [G]1424
944110771744 rs865965409 N.D. missenseTSer [S]1425
contig referenceGAla [A]1425
944110811748 rs376629202 0.000byCluster YesmissenseCThr [T]2426
missenseTIle [I]2426
contig referenceGSer [S]2426
944110831750 rs72658113 N.D. YesmissenseASer [S]1427
contig referenceGGly [G]1427
944110871754 rs1016068209 N.D. missenseTLeu [L]2428
contig referenceCPro [P]2428
944110891756 rs546313661 0.000byFreqWith1000GenomeData0.0002 missenseCPro [P]1429
contig referenceGAla [A]1429
944110901757 rs368262779 N.D. YesmissenseTVal [V]2429
contig referenceCAla [A]2429
944110991766 rs139446305 0.000byClusterbyFreqWith1000GenomeData0.0002 YesLikely pathogenicmissenseAGln [Q]2432
contig referenceGArg [R]2432
944111021769 rs72658114 N.D. YesmissenseAGlu [E]2433
contig referenceGGly [G]2433
944111121779 rs538403475 0.000With1000GenomeData0.0002 synonymousGGly [G]3436
contig referenceAGly [G]3436
944111161783 rs751257755 0.000 missenseAThr [T]1438
contig referenceGAla [A]1438
944111171784 rs267601642 N.D.byCluster YesmissenseTVal [V]2438
contig referenceCAla [A]2438
944111221789 rs754825427 0.000 missenseTCys [C]1440
contig referenceCArg [R]1440
944111231790 rs141677005 0.000byCluster YesmissenseAHis [H]2440
contig referenceGArg [R]2440
944111261793 rs752703563 0.000byFreq missenseGArg [R]2441
contig referenceCPro [P]2441
944111271794 rs757389790 0.000 synonymousGPro [P]3441
contig referenceTPro [P]3441
944111301797 rs779173151 0.000byFreq synonymousCGly [G]3442
contig referenceGGly [G]3442
944111331800 rs146206917 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAGlu [E]3443
contig referenceGGlu [E]3443
944111351802 rs772238510 0.000 missenseTLeu [L]2444
contig referenceCPro [P]2444
944111371804 rs72658115 N.D. YesmissenseCArg [R]1445
contig referenceGGly [G]1445
944111471814 rs72658116 N.D. YesmissenseAGlu [E]2448
contig referenceGGly [G]2448
944120701824 rs545459178 0.000byFreqWith1000GenomeData0.0002 synonymousAGly [G]3451
contig referenceTGly [G]3451
944120711825 rs780096548 0.000 missenseTPhe [F]1452
contig referenceCLeu [L]1452
944120741828 rs747250303 0.000 missenseTSer [S]1453
contig referenceCPro [P]1453
944120761830 rs768981392 0.000byFreq synonymousCPro [P]3453
contig referenceTPro [P]3453
944120771831 rs72658117 0.000byCluster YesPathogenicmissenseTCys [C]1454
contig referenceGGly [G]1454
944120781832 rs797044949 N.D. PathogenicmissenseTVal [V]2454
contig referenceGGly [G]2454
944120831837 rs899057268 N.D. missenseTSer [S]1456
contig referenceCPro [P]1456
944120851839 rs748642755 0.000 synonymousCPro [P]3456
contig referenceTPro [P]3456
944120941848 rs770230919 0.000byFreq synonymousTIle [I]3459
contig referenceCIle [I]3459
944120951849 rs72658118 N.D. YesmissenseASer [S]1460
contig referenceGGly [G]1460
944120991853 rs565057160 0.000With1000GenomeData0.0002 missenseTLeu [L]2461
contig referenceCPro [P]2461
944121001854 rs139726213 0.001byClusterbyFreqWith1000GenomeData0.0020 YesLikely benignsynonymousTPro [P]3461
contig referenceCPro [P]3461
944121011855 rs562290953 0.000byCluster missenseAThr [T]1462
contig referenceGAla [A]1462
944121191873 rs770497661 0.000byFreq missenseAIle [I]1468
contig referenceGVal [V]1468
944121211875 rs773852385 0.000 synonymousTVal [V]3468
contig referenceCVal [V]3468
944125851877 rs72658119 N.D. missenseCAla [A]2469
contig referenceGGly [G]2469
944125871879 rs775283092 0.000byClusterbyFreq missenseTPhe [F]1470
contig referenceCLeu [L]1470
944125911883 rs760503549 0.000 missenseTLeu [L]2471
contig referenceCPro [P]2471
944125931885 rs121912906 N.D.byCluster PathogenicmissenseTCys [C]1472
contig referenceGGly [G]1472
944125971889 rs763967575 0.000byFreq missenseCThr [T]2473
contig referenceTIle [I]2473
944125981890 rs543815305 0.000byCluster synonymousTIle [I]3473
contig referenceCIle [I]3473
944125991891 rs761880600 0.000 missenseAAsn [N]1474
contig referenceGAsp [D]1474
944126011893 rs766360064 0.000byFreq synonymousTAsp [D]3474
contig referenceCAsp [D]3474
944126021894 rs755058199 0.000 missenseASer [S]1475
contig referenceGGly [G]1475
944126061898 rs767688495 0.000 missenseALys [K]2476
contig referenceGArg [R]2476
944126091901 rs752940354 0.000 missenseTLeu [L]2477
contig referenceCPro [P]2477
944126121904 rs67034934 N.D.byCluster missenseAAsp [D]2478
missenseAAsp [D]2478
missenseTVal [V]2478
missenseTVal [V]2478
contig referenceGGly [G]2478
contig referenceGGly [G]2478
944126131905 rs756412829 0.000 synonymousTGly [G]3478
contig referenceCGly [G]3478
944126171909 rs778238943 0.000byFreq missenseGVal [V]1480
contig referenceAIle [I]1480
944126181910 rs568201784 0.000With1000GenomeData0.0002 missenseCThr [T]2480
contig referenceTIle [I]2480
944126201912 rs72658120 N.D. missenseASer [S]1481
contig referenceGGly [G]1481
944126221914 rs757839011 0.000byFreq synonymousGGly [G]3481
synonymousTGly [G]3481
contig referenceCGly [G]3481
944126241916 rs867082159 N.D.byCluster missenseGArg [R]2482
contig referenceCPro [P]2482
944126251917 rs412777 0.453byClusterbyFreqwithHapMapFreqWith1000GenomeData0.3273 Benign synonymousCPro [P]3482
contig referenceAPro [P]3482
944126261918 rs960325497 N.D. missenseAThr [T]1483
contig referenceGAla [A]1483
944126271919 rs414408 0.000byClusterbyFreqwithHapMapFreq missenseAAsp [D]2483
contig referenceCAla [A]2483
944126301922 rs66671033 N.D.byCluster missenseAGlu [E]2484
missenseAGlu [E]2484
missenseTVal [V]2484
missenseTVal [V]2484
contig referenceGGly [G]2484
contig referenceGGly [G]2484
944126321924 rs200057029 0.000byClusterWith1000GenomeData0.0002 missenseAThr [T]1485
contig referenceGAla [A]1485
944126431935 rs148802548 0.000byCluster missenseTAsp [D]3488
contig referenceGGlu [E]3488
944126491941 rs768334731 0.000 synonymousTGly [G]3490
contig referenceCGly [G]3490
944126531945 rs776551401 0.000byFreq missenseGVal [V]1492
contig referenceAIle [I]1492
944126541946 rs761529493 0.000byFreq missenseCThr [T]2492
contig referenceTIle [I]2492
944126571949 rs72658121 N.D. missenseAGlu [E]2493
contig referenceGGly [G]2493
944126611953 rs752064850 N.D. synonymousTPhe [F]3494
contig referenceCPhe [F]3494
944126661958 rs758488397 N.D.byCluster missenseAGlu [E]2496
missenseCAla [A]2496
contig referenceGGly [G]2496
944126751967 rs72658122 N.D. missenseTVal [V]2499
contig referenceGGly [G]2499
944130831975 rs121912910 N.D.byCluster PathogenicmissenseASer [S]1502
contig referenceGGly [G]1502
944130881980 rs433386 N.D. synonymousCAsp [D]3503
contig referenceTAsp [D]3503
944130911983 rs780715133 0.000 synonymousCPro [P]3504
contig referenceTPro [P]3504
944130951987 rs1037367793 N.D. missenseCGln [Q]1506
contig referenceALys [K]1506
944131001992 rs747938841 0.000byFreq synonymousTAsn [N]3507
contig referenceCAsn [N]3507
944131011993 rs769600024 0.000byFreq missenseASer [S]1508
contig referenceGGly [G]1508
944131021994 rs72658124 N.D. missenseAAsp [D]2508
contig referenceGGly [G]2508
944131031995 rs142438481 0.000byClusterbyFreq synonymousCGly [G]3508
contig referenceTGly [G]3508
944131051997 rs771870455 N.D. missenseGGly [G]2509
contig referenceAAsp [D]2509
944131102002 rs72658125 N.D. missenseASer [S]1511
contig referenceGGly [G]1511
944131112003 rs66999265 N.D.byCluster missenseAAsp [D]2511
missenseAAsp [D]2511
missenseTVal [V]2511
missenseTVal [V]2511
contig referenceGGly [G]2511
contig referenceGGly [G]2511
944131152007 rs200231086 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGGln [Q]3512
contig referenceTHis [H]3512
944131212013 rs772135870 0.000byFreq synonymousCGly [G]3514
contig referenceTGly [G]3514
944131222014 rs775604516 0.000 missenseGVal [V]1515
contig referenceCLeu [L]1515
944131262018 rs760681786 0.000 missenseAAsp [D]2516
contig referenceCAla [A]2516
944131282020 rs72658126 N.D. missenseCArg [R]1517
contig referenceGGly [G]1517
944131292021 rs1057516053 N.D. PathogenicmissenseAAsp [D]2517
contig referenceGGly [G]2517
944131342026 rs151256720 0.000byCluster missenseTTrp [W]1519
contig referenceCArg [R]1519
944131352027 rs201768205 0.000byClusterbyFreq missenseAGln [Q]2519
contig referenceGArg [R]2519
944136902029 rs72658128 N.D. missenseASer [S]1520
contig referenceGGly [G]1520
944136942033 rs140434765 0.000byCluster missenseTVal [V]2521
contig referenceCAla [A]2521
944136952034 rs765688776 0.000 synonymousCAla [A]3521
contig referenceTAla [A]3521
944136962035 rs199732595 0.000byClusterbyFreq Uncertain significancemissenseTSer [S]1522
contig referenceCPro [P]1522
944136982037 rs749869789 0.000 synonymousGPro [P]3522
contig referenceAPro [P]3522
944137042043 rs535425263 N.D. synonymousCPro [P]3524
contig referenceTPro [P]3524
944137052044 rs147074348 0.000byCluster missenseTTyr [Y]1525
contig referenceGAsp [D]1525
944137082047 rs72658129 N.D. missenseAArg [R]1526
contig referenceGGly [G]1526
944137092048 rs72658130 N.D. missenseAGlu [E]2526
contig referenceGGly [G]2526
944137152054 rs41317144 0.000byClusterbyFreq missenseGSer [S]2528
contig referenceAAsn [N]2528
944137172056 rs72658131 N.D. missenseTCys [C]1529
contig referenceGGly [G]1529
944137202059 rs754489138 0.000 missenseTSer [S]1530
contig referenceGAla [A]1530
944137242063 rs757994462 N.D. missenseGArg [R]2531
contig referenceAGln [Q]2531
944137272066 rs72658132 N.D. missenseAGlu [E]2532
contig referenceGGly [G]2532
944137422081 rs200267911 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGArg [R]2537
contig referenceAGln [Q]2537
944138942083 rs866589638 N.D. missenseTCys [C]1538
contig referenceGGly [G]1538
944139032092 rs72658133 N.D. missenseTCys [C]1541
contig referenceGGly [G]1541
944139062095 rs774891145 0.000 missenseAArg [R]1542
contig referenceGGly [G]1542
944139122101 rs72658134 N.D. missenseASer [S]1544
contig referenceGGly [G]1544
944139132102 rs72658135 N.D. missenseTVal [V]2544
contig referenceGGly [G]2544
944139212110 rs72658136 N.D. missenseCArg [R]1547
contig referenceGGly [G]1547
944139222111 rs121912901 N.D.byCluster PathogenicmissenseAAsp [D]2547
contig referenceGGly [G]2547
944139242113 rs902699000 N.D. missenseAThr [T]1548
contig referenceCPro [P]1548
944139262115 rs760029920 0.000byFreq synonymousTPro [P]3548
contig referenceCPro [P]3548
944139272116 rs42524 0.355byClusterbyFreqwithHapMapFreqWith1000GenomeData0.1783 Benign missenseAThr [T]1549
missenseGAla [A]1549
missenseTSer [S]1549
contig referenceCPro [P]1549
944139332122 rs267601643 N.D.byCluster missenseTSer [S]1551
contig referenceCPro [P]1551
944139352124 rs773904638 N.D. synonymousCPro [P]3551
contig referenceTPro [P]3551
944139362125 rs763695362 0.000byFreq missenseTSer [S]1552
contig referenceCPro [P]1552
944139402129 rs72658137 N.D. PathogenicmissenseAAsp [D]2553
contig referenceGGly [G]2553
944142252140 rs1053995618 N.D. synonymousTLeu [L]1557
contig referenceCLeu [L]1557
944142402155 rs72658138 N.D. missenseTCys [C]1562
contig referenceGGly [G]1562
944142452160 rs183493537 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTPro [P]3563
contig referenceCPro [P]3563
944142462161 rs41317153 0.000byClusterbyFreq Uncertain significancemissenseAThr [T]1564
contig referenceGAla [A]1564
944142502165 rs794727470 N.D. Likely pathogenicmissenseCAla [A]2565
contig referenceGGly [G]2565
944142602175 rs370487959 0.000byCluster synonymousTGly [G]3568
contig referenceCGly [G]3568
944142662181 rs373341681 0.000 synonymousTPro [P]3570
contig referenceAPro [P]3570
944142742189 rs778065676 0.000 missenseCThr [T]2573
contig referenceGArg [R]2573
944152312196 rs201829498 0.002 synonymousTLeu [L]3575
contig referenceCLeu [L]3575
944152332198 rs368676099 0.000byClusterbyFreq missenseCPro [P]2576
missenseGArg [R]2576
contig referenceAHis [H]2576
944152402205 rs142388992 0.000 missenseCAsp [D]3578
contig referenceGGlu [E]3578
944152452210 rs121912909 N.D.byCluster PathogenicmissenseAAsp [D]2580
contig referenceGGly [G]2580
944152522217 rs757388782 0.000 synonymousAPro [P]3582
contig referenceTPro [P]3582
944152562221 rs146984874 0.000byClusterbyFreq missenseAThr [T]1584
contig referenceCPro [P]1584
944152622227 rs72658139 N.D. missenseCArg [R]1586
contig referenceGGly [G]1586
944152632228 rs121912907 N.D.byCluster PathogenicmissenseTVal [V]2586
contig referenceGGly [G]2586
944152662231 rs868663254 N.D. missenseTLeu [L]2587
contig referenceCPro [P]2587
944152672232 rs746150563 0.000byFreq synonymousGPro [P]3587
contig referenceAPro [P]3587
944164102241 rs138019868 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousGGlu [E]3590
contig referenceAGlu [E]3590
944164122243 rs535050755 0.000byFreqWith1000GenomeData0.0002 missenseAHis [H]2591
contig referenceGArg [R]2591
944164132244 rs774232044 0.000byFreq synonymousTArg [R]3591
contig referenceCArg [R]3591
944164142245 rs72658141 N.D.byCluster missenseASer [S]1592
contig referenceGGly [G]1592
944164192250 rs557321932 0.000With1000GenomeData0.0002 synonymousGPro [P]3593
contig referenceCPro [P]3593
944164232254 rs67745466 N.D.byCluster missenseASer [S]1595
missenseASer [S]1595
missenseTCys [C]1595
missenseTCys [C]1595
contig referenceGGly [G]1595
contig referenceGGly [G]1595
944164292260 rs759411309 0.000 missenseGGly [G]1597
contig referenceASer [S]1597
944164332264 rs72658142 N.D. missenseTVal [V]2598
contig referenceGGly [G]2598
944164402271 rs767521406 0.000 synonymousTAla [A]3600
contig referenceCAla [A]3600
944164412272 rs72658143 N.D. missenseASer [S]1601
contig referenceGGly [G]1601
944164422273 rs72658144 N.D. missenseAAsp [D]2601
contig referenceGGly [G]2601
944164442275 rs906800567 N.D. missenseTSer [S]1602
contig referenceCPro [P]1602
944164532284 rs752700513 0.000 missenseAThr [T]1605
contig referenceCPro [P]1605
944164572288 rs757262502 0.000 missenseCThr [T]2606
contig referenceTIle [I]2606
944164652296 rs765398195 0.000byFreq synonymousAArg [R]1609
contig referenceCArg [R]1609
944164662297 rs758673298 0.000byFreq missenseAGln [Q]2609
contig referenceGArg [R]2609
944164822313 rs931023370 N.D. synonymousAPro [P]3614
contig referenceCPro [P]3614
944164842315 rs780264582 0.000 missenseTLeu [L]2615
contig referenceCPro [P]2615
944164942325 rs747305213 0.000byFreq missenseAGlu [E]3618
contig referenceTAsp [D]3618
944177262337 rs765470622 0.001byFreq Uncertain significancesynonymousCGly [G]3622
contig referenceTGly [G]3622
944177302341 rs886062517 N.D. Uncertain significancemissenseGAla [A]1624
contig referenceCPro [P]1624
944177312342 rs770641423 0.000 missenseGArg [R]2624
contig referenceCPro [P]2624
944177332344 rs193922162 N.D. Likely pathogenicmissenseASer [S]1625
contig referenceGGly [G]1625
944177342345 rs72658145 0.000byCluster missenseAAsp [D]2625
missenseCAla [A]2625
contig referenceGGly [G]2625
944177362347 rs374878685 0.000byClusterbyFreq missenseAMet [M]1626
contig referenceGVal [V]1626
944177372348 rs767468227 0.000 missenseCAla [A]2626
contig referenceTVal [V]2626
944177382349 rs1800238 0.165byClusterbyFreqWith1000GenomeData0.0992 Benign synonymousTVal [V]3626
synonymousTVal [V]3626
synonymousTVal [V]3626
contig referenceGVal [V]3626