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SNP linked to Gene (geneID:113235) 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): 5
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_080669.3minus strandNP_542400.2reverseNT_010783.16GRCh38.p7<- currently shown
XM_017024110.1minus strandXP_016879599.1reverseNT_010783.16GRCh38.p7View snp on GeneModel
XM_005277786.3minus strandXP_005277843.1reverseNT_010783.16GRCh38.p7View snp on GeneModel
NM_080669.5minus strandNP_542400.2reverseNT_010783.16GRCh38.p7View snp on GeneModel
NM_001242366.2minus strandNP_001229295.1reverseNT_010783.16GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_010783.16NM_080669.3NP_542400.2reverseminus strand333, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Linkout Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
283996621470 rs1042990430 N.D. missenseAArg [R]3458
contig referenceCSer [S]3458
283996631469 rs782324529 0.000 missenseAAsn [N]2458
contig referenceGSer [S]2458
283996671465 rs1413520294 N.D. nonsenseT1457
contig referenceCGln [Q]1457
283996701462 rs186143284 0.007byClusterbyFreqWith1000GenomeData0.0006 missenseTSer [S]1456
contig referenceCPro [P]1456
283996851447 rs1174919246 N.D. missenseALys [K]1451
contig referenceGGlu [E]1451
283996861446 rs782161667 0.000 synonymousTLeu [L]3450
contig referenceCLeu [L]3450
283996881444 rs370669989 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTPhe [F]1450
contig referenceCLeu [L]1450
283996891443 rs782007129 0.000 synonymousTHis [H]3449
contig referenceCHis [H]3449
283996911441 rs782088415 0.000byFreq missenseTTyr [Y]1449
contig referenceCHis [H]1449
283997101422 rs1187602665 N.D. missenseCIle [I]3442
contig referenceGMet [M]3442
283997111421 rs782750258 0.000byFreq missenseGArg [R]2442
contig referenceTMet [M]2442
284006101418 rs782027732 0.000 missenseAGlu [E]2441
contig referenceGGly [G]2441
284006121416 rs890413466 N.D. synonymousCIle [I]3440
contig referenceTIle [I]3440
284006201408 rs782527604 0.000 frame shift-Phe [F]1438
contig referenceGVal [V]1438
284006241404 rs374545871 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousAPro [P]3436
contig referenceGPro [P]3436
284006251403 rs781949017 0.000 missenseTLeu [L]2436
contig referenceCPro [P]2436
284006251403 rs1180381795 N.D. frame shift-Arg [R]2436
contig referenceCPro [P]2436
284006291399 rs782089869 0.000 missenseCLeu [L]1435
contig referenceAIle [I]1435
284006301398 rs368561206 0.000byCluster synonymousTLeu [L]3434
contig referenceCLeu [L]3434
284006361392 rs781803952 0.000byFreq synonymousTLeu [L]3432
contig referenceCLeu [L]3432
284006371391 rs782534694 0.000 missenseGArg [R]2432
contig referenceTLeu [L]2432
284006381390 rs782811181 0.000 missenseAIle [I]1432
contig referenceCLeu [L]1432
284006391389 rs781853191 0.000 synonymousTGly [G]3431
contig referenceCGly [G]3431
284006421386 rs782530326 0.000 synonymousCAla [A]3430
contig referenceTAla [A]3430
284006441384 rs1274150803 N.D. missenseTSer [S]1430
contig referenceGAla [A]1430
284006461382 rs782595969 0.000 missenseAGlu [E]2429
contig referenceGGly [G]2429
284006511377 rs782576278 N.D. synonymousTLeu [L]3427
contig referenceCLeu [L]3427
284006631365 rs1327266121 N.D. synonymousAGly [G]3423
contig referenceGGly [G]3423
284006691359 rs562411490 0.000With1000GenomeData0.0002 missenseTIle [I]3421
contig referenceGMet [M]3421
284006711357 rs782188751 0.000 missenseGVal [V]1421
contig referenceAMet [M]1421
284006731355 rs1240110587 N.D. missenseGCys [C]2420
contig referenceTPhe [F]2420
284006741354 rs1337596788 N.D. missenseCLeu [L]1420
contig referenceTPhe [F]1420
284006761352 rs141992236 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGSer [S]2419
contig referenceAAsn [N]2419
284006781350 rs782590413 0.000 synonymousALeu [L]3418
contig referenceGLeu [L]3418
284006871341 rs782287467 0.000byFreq synonymousTPro [P]3415
contig referenceAPro [P]3415
284006911337 rs781998047 0.010byFreq missenseCSer [S]2414
contig referenceATyr [Y]2414
284006931332 rs782656090 0.000byFreq frame shift-Thr [T]3413
contig referenceACTCLeu [L]3413
284006951333 rs782201123 0.000 missenseTPhe [F]1413
contig referenceCLeu [L]1413
284006961332 rs782352629 0.000byFreq synonymousCSer [S]3412
synonymousGSer [S]3412
contig referenceASer [S]3412
284007001328 rs1393672324 N.D. missenseGSer [S]2411
contig referenceAAsn [N]2411
284007031325 rs201932339 N.D.byCluster missenseCSer [S]2410
contig referenceTPhe [F]2410
284007051323 rs199895119 N.D. synonymousTIle [I]3409
contig referenceCIle [I]3409
284007051323 rs374502830 N.D. frame shift-Ser [S]3410
contig referenceCPhe [F]3410
284007051322 rs868936450 N.D.byCluster missenseCTThr [T]2409
contig referenceTCIle [I]2409
284007061322 rs201732528 N.D. missenseAAsn [N]2409
contig referenceTIle [I]2409
284007061322 rs561780114 N.D. frame shift-Thr [T]2409
contig referenceTIle [I]2409
284007101318 rs1326269937 N.D. missenseASer [S]1408
contig referenceGGly [G]1408
284007111317 rs1462824243 N.D. synonymousTSer [S]3407
contig referenceCSer [S]3407
284007171311 rs761549800 N.D.byCluster synonymousAThr [T]3405
synonymousCThr [T]3405
contig referenceGThr [T]3405
284007181310 rs541069777 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTMet [M]2405
contig referenceCThr [T]2405
284007221306 rs1157621333 N.D. synonymousTLeu [L]1404
contig referenceCLeu [L]1404
284007231305 rs782782249 0.000 missenseAIle [I]3403
contig referenceGMet [M]3403
284007241304 rs199727773 0.000byClusterbyFreq missenseCThr [T]2403
contig referenceTMet [M]2403
284007251303 rs960988954 N.D. missenseGVal [V]1403
contig referenceAMet [M]1403
284007271301 rs374232525 0.000byClusterbyFreq missenseTVal [V]2402
contig referenceCAla [A]2402
284007331295 rs782796227 0.000 missenseAAsn [N]2400
contig referenceGSer [S]2400
284007411287 rs782456428 0.000byClusterbyFreq synonymousCCys [C]3397
contig referenceTCys [C]3397
284007441284 rs1191244886 N.D. synonymousGAla [A]3396
contig referenceCAla [A]3396
284007451283 rs782044138 0.000byClusterbyFreq missenseAAsp [D]2396
contig referenceCAla [A]2396
284007611267 rs782756958 0.000 missenseGVal [V]1391
contig referenceCLeu [L]1391
284022421257 rs782421155 0.000 synonymousAGlu [E]3387
contig referenceGGlu [E]3387
284022471252 rs781925805 N.D. missenseGAla [A]1386
contig referenceAThr [T]1386
284022481251 rs782018017 0.000 missenseCAsp [D]3385
contig referenceGGlu [E]3385
284022551244 rs1047300757 N.D. missenseCAla [A]2383
contig referenceTVal [V]2383
284022591240 rs782067170 0.000byFreq missenseAMet [M]1382
contig referenceCLeu [L]1382
284022811218 rs41297095 0.000byClusterbyFreq synonymousTVal [V]3374
contig referenceCVal [V]3374
284022821217 rs782765996 0.000 missenseCAla [A]2374
contig referenceTVal [V]2374
284022861213 rs75413886 N.D.byCluster missenseGAla [A]1373
contig referenceCPro [P]1373
284023081191 rs781848598 0.000 synonymousCLeu [L]3365
contig referenceTLeu [L]3365
284023101189 rs1347089586 N.D. missenseTPhe [F]1365
contig referenceCLeu [L]1365
284023141185 rs782159153 0.000 synonymousTGly [G]3363
contig referenceGGly [G]3363
284023161183 rs782721611 0.000byFreq missenseAArg [R]1363
contig referenceGGly [G]1363
284023171182 rs781801199 0.000 nonsenseG3362
contig referenceTTyr [Y]3362
284023201179 rs782494535 0.000 synonymousGGly [G]3361
contig referenceAGly [G]3361
284046241169 rs781962021 0.000byFreq missenseCThr [T]2358
missenseGArg [R]2358
contig referenceTMet [M]2358
284046251168 rs369804471 0.000byClusterbyFreq missenseGVal [V]1358
contig referenceAMet [M]1358
284046281165 rs781905592 0.000 missenseGVal [V]1357
contig referenceCLeu [L]1357
284046291164 rs1299594897 N.D. synonymousGPro [P]3356
contig referenceTPro [P]3356
284046311162 rs998005173 N.D. missenseAThr [T]1356
contig referenceCPro [P]1356
284046321161 rs782529404 0.000byFreq synonymousAThr [T]3355
contig referenceGThr [T]3355
284046331160 rs1164744443 N.D. missenseTMet [M]2355
contig referenceCThr [T]2355
284046461147 rs782728156 0.000 missenseGVal [V]1351
contig referenceTPhe [F]1351
284046511142 rs1447011983 N.D. missenseCSer [S]2349
contig referenceTPhe [F]2349
284046621131 rs781789935 0.000 synonymousCGly [G]3345
contig referenceGGly [G]3345
284046711122 rs782484940 0.000 synonymousTAsn [N]3342
contig referenceCAsn [N]3342
284046721121 rs1049462297 N.D. missenseGSer [S]2342
contig referenceAAsn [N]2342
284046741119 rs1378804034 N.D. synonymousTPhe [F]3341
contig referenceCPhe [F]3341
284046761117 rs782599604 0.000 missenseAIle [I]1341
contig referenceTPhe [F]1341
284046831110 rs782258451 0.000 synonymousTGly [G]3338
contig referenceCGly [G]3338
284046861107 rs141883705 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGMet [M]3337
synonymousAIle [I]3337
synonymousTIle [I]3337
contig referenceCIle [I]3337
284046981095 rs782221502 0.000byFreq nonsenseA3333
contig referenceGTrp [W]3333
284047041089 rs956464375 N.D. synonymousCAsp [D]3331
contig referenceTAsp [D]3331
284047061087 rs782398051 0.000 missenseAAsn [N]1331
contig referenceGAsp [D]1331
284047071086 rs35257694 0.000byClusterbyFreq synonymousTAla [A]3330
contig referenceCAla [A]3330
284047131080 rs782162759 0.000byFreq synonymousTCys [C]3328
contig referenceCCys [C]3328
284047191074 rs782809308 0.000byFreq synonymousAGln [Q]3326
contig referenceGGln [Q]3326
284047251068 rs188529539 0.001byClusterbyFreqWith1000GenomeData0.0004 synonymousTLeu [L]3324
contig referenceCLeu [L]3324
284047271066 rs782051055 0.000 missenseGVal [V]1324
contig referenceCLeu [L]1324
284047351058 rs782737463 0.000 missenseAAsp [D]2321
contig referenceCAla [A]2321
284047361057 rs781823524 0.000 missenseAThr [T]1321
contig referenceGAla [A]1321
284047441049 rs782516390 0.000 missenseAAsn [N]2318
contig referenceGSer [S]2318
284047581035 rs782759439 0.000 synonymousGLeu [L]3313
contig referenceCLeu [L]3313
284047781015 rs1239154517 N.D. missenseCArg [R]1307
contig referenceGGly [G]1307
284047841009 rs781902941 0.000byFreq missenseASer [S]1305
missenseTCys [C]1305
contig referenceGGly [G]1305
284047851008 rs181338421 0.000With1000GenomeData0.0002 synonymousTIle [I]3304
contig referenceCIle [I]3304
284047911002 rs572650603 0.001byFreqWith1000GenomeData0.0002 synonymousGLys [K]3302
contig referenceALys [K]3302
28404799994 rs201540617 0.000byClusterbyFreq missenseAAsn [N]1300
contig referenceGAsp [D]1300
28404803990 rs1303258450 N.D. synonymousTCys [C]3298
contig referenceCCys [C]3298
28404804989 rs369228677 0.000byClusterbyFreq missenseATyr [Y]2298
missenseTPhe [F]2298
contig referenceGCys [C]2298
28404808985 rs782009707 0.000 frame shift-Ser [S]1297
contig referenceCLeu [L]1297
28404813980 rs782253488 0.000 missenseTIle [I]2295
contig referenceCThr [T]2295
28404814979 rs34552966 0.001byClusterbyFreqWith1000GenomeData0.0024 missenseGAla [A]1295
missenseTSer [S]1295
contig referenceAThr [T]1295
28404818975 rs1158630130 N.D. synonymousTLeu [L]3293
contig referenceALeu [L]3293
28404820973 rs376504291 0.000byClusterbyFreq synonymousTLeu [L]1293
contig referenceCLeu [L]1293
28404830963 rs782194324 0.000 synonymousGThr [T]3289
contig referenceCThr [T]3289
28404836957 rs1470702353 N.D. synonymousTIle [I]3287
contig referenceCIle [I]3287
28404840953 rs558367155 0.001byFreqWith1000GenomeData0.0004 missenseTVal [V]2286
contig referenceAAsp [D]2286
28404847946 rs1365953067 N.D. missenseAThr [T]1284
contig referenceGAla [A]1284
28404848945 rs782306668 0.000byFreq synonymousAGly [G]3283
contig referenceGGly [G]3283
28404854939 rs781968978 0.000byFreq synonymousTHis [H]3281
contig referenceCHis [H]3281
28404861932 rs782077797 0.000 missenseAAsn [N]2279
contig referenceCThr [T]2279
28404869924 rs1268074030 N.D. synonymousAVal [V]3276
contig referenceGVal [V]3276
28404872921 rs782387872 0.000byFreq synonymousTPhe [F]3275
contig referenceCPhe [F]3275
28404876917 rs1224823802 N.D. missenseAAsn [N]2274
contig referenceTIle [I]2274
28404880913 rs781978069 0.000byFreq missenseTSer [S]1273
contig referenceGAla [A]1273
28404883910 rs782161981 0.000byFreq synonymousTLeu [L]1272
contig referenceCLeu [L]1272
28404887906 rs782790090 0.000byFreq synonymousTTyr [Y]3270
contig referenceCTyr [Y]3270
28404888905 rs781800160 0.000 missenseGCys [C]2270
contig referenceATyr [Y]2270
28404905888 rs782105362 0.000 synonymousAArg [R]3264
contig referenceGArg [R]3264
28404912880 rs782773007 N.D.byCluster frame shiftGAGAArg [R]1262
contig reference-Lys [K]1262
28404913880 rs782729175 0.000 missenseGGlu [E]1262
contig referenceALys [K]1262
28404921872 rs1262307099 N.D. missenseTVal [V]2259
contig referenceCAla [A]2259
28404922871 rs370955621 0.000byClusterbyFreq missenseAThr [T]1259
missenseTSer [S]1259
contig referenceGAla [A]1259
28404923870 rs781828817 0.000byFreq synonymousTPro [P]3258
contig referenceCPro [P]3258
28404933860 rs374413378 0.000byCluster missenseGCys [C]2255
contig referenceATyr [Y]2255
28404937847 rs782150416 0.000 frame shift-Ser [S]1251
contig reference(10bp)Ile [I]1251
28404941852 rs185900287 0.005byClusterbyFreqWith1000GenomeData0.0008 synonymousGVal [V]3252
contig referenceCVal [V]3252
28404945848 rs782457383 0.000 missenseCThr [T]2251
contig referenceTIle [I]2251
28404955838 rs1401827482 N.D. missenseTTyr [Y]1248
contig referenceCHis [H]1248
28404958835 rs782571400 0.000 missenseTTyr [Y]1247
contig referenceCHis [H]1247
28404960833 rs782222724 0.000byFreq missenseAHis [H]2246
missenseTLeu [L]2246
contig referenceGArg [R]2246
28404961832 rs370673122 0.000byClusterbyFreq missenseTCys [C]1246
contig referenceCArg [R]1246
28404965828 rs782240737 0.000byFreq synonymousAThr [T]3244
synonymousTThr [T]3244
contig referenceGThr [T]3244
28404966827 rs782013829 0.000 missenseTMet [M]2244
contig referenceCThr [T]2244
28404967826 rs41297081 0.005 missenseTSer [S]1244
contig referenceAThr [T]1244
28404968825 rs782060856 0.000 missenseGLeu [L]3243
contig referenceCPhe [F]3243
28404971822 rs782651103 0.000 synonymousGLeu [L]3242
contig referenceCLeu [L]3242
28404976817 rs374760186 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGly [G]1241
missenseTTrp [W]1241
contig referenceCArg [R]1241
28404976817 rs782820497 0.000 frame shift-Gly [G]1241
contig referenceCArg [R]1241
28404986807 rs782781428 0.000byFreq synonymousGPro [P]3237
contig referenceAPro [P]3237
28405010783 rs781906324 0.000byFreq synonymousTCys [C]3229
contig referenceCCys [C]3229
28405022771 rs1198506638 N.D. synonymousCTyr [Y]3225
contig referenceTTyr [Y]3225
28405023770 rs1344105627 N.D. missenseTPhe [F]2225
contig referenceATyr [Y]2225
28405024769 rs782152826 0.000 missenseCHis [H]1225
contig referenceTTyr [Y]1225
28405024768 rs1263347824 N.D. frame shift-Cys [C]3225
contig referenceCTTyr [Y]3225
28405025768 rs1225004605 N.D. synonymousALeu [L]3224
contig referenceCLeu [L]3224
28405034759 rs371702390 0.000byCluster synonymousTAla [A]3221
contig referenceCAla [A]3221
28405035758 rs1315483318 N.D. missenseTVal [V]2221
contig referenceCAla [A]2221
28405040753 rs1277044493 N.D. synonymousCLeu [L]3219
contig referenceGLeu [L]3219
28405042750 rs781924920 0.000 GCCTTG [AL]3218
28405048745 rs781792853 0.000 missenseTSer [S]1217
contig referenceGAla [A]1217
28405053740 rs782488132 0.000 missenseTVal [V]2215
contig referenceCAla [A]2215
28405054739 rs1432033321 N.D. missenseAThr [T]1215
contig referenceGAla [A]1215
28405055738 rs145398587 0.001byClusterbyFreqWith1000GenomeData0.0020 synonymousALeu [L]3214
contig referenceGLeu [L]3214
28405058735 rs781868707 0.000 missenseTCys [C]3213
contig referenceGTrp [W]3213
28405060733 rs1395795877 N.D. missenseGGly [G]1213
contig referenceTTrp [W]1213
28405065728 rs368657591 0.000byCluster missenseTLeu [L]2211
contig referenceCPro [P]2211
28405066727 rs1407362624 N.D. missenseGAla [A]1211
contig referenceCPro [P]1211
28405068725 rs782685073 0.000 missenseGSer [S]2210
contig referenceAAsn [N]2210
28405070723 rs1178815502 N.D. synonymousTAla [A]3209
contig referenceCAla [A]3209
28405074719 rs201837257 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseTPhe [F]2208
contig referenceATyr [Y]2208
28405083710 rs782319010 0.000 missenseTVal [V]2205
contig referenceCAla [A]2205
28405087706 rs1422953742 N.D. missenseTTrp [W]1204
contig referenceCArg [R]1204
28405088705 rs1168586312 N.D. synonymousGLeu [L]3203
contig referenceCLeu [L]3203
28405102691 rs782562758 0.000byFreq missenseCArg [R]1199
missenseTTrp [W]1199
contig referenceGGly [G]1199
28405103690 rs375741617 0.000byClusterbyFreq synonymousTLeu [L]3198
contig referenceCLeu [L]3198
28405106687 rs782397444 0.000byFreq synonymousTLeu [L]3197
contig referenceCLeu [L]3197
28405108655 rs1374708751 N.D. frame shift-Ser [S]1188
contig reference(31bp)Ile [I]1188
28405109654 rs869040219 N.D. frame shift-Ser [S]3188
contig reference(31bp)Ile [I]3188
28405110683 rs1185389975 N.D. missenseAAsn [N]2196
contig referenceGSer [S]2196
28405115678 rs781988884 0.000 synonymousCLeu [L]3194
contig referenceGLeu [L]3194
28405130663 rs782296930 0.000 synonymousAGly [G]3189
contig referenceGGly [G]3189
28405131662 rs1001671179 N.D. missenseAGlu [E]2189
contig referenceGGly [G]2189
28405132661 rs1034530813 N.D. missenseCArg [R]1189
contig referenceGGly [G]1189
28405147646 rs782404994 0.000 synonymousTLeu [L]1184
contig referenceCLeu [L]1184
28405158635 rs1205116499 N.D. missenseTLeu [L]2180
contig referenceGArg [R]2180
28405164629 rs781943932 0.000 missenseTIle [I]2178
contig referenceCThr [T]2178
28405167626 rs542701757 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAHis [H]2177
contig referenceGArg [R]2177
28405169624 rs1214642514 N.D. missenseAArg [R]3176
contig referenceCSer [S]3176
28405173620 rs1340938054 N.D. missenseCPro [P]2175
contig referenceGArg [R]2175
28405175618 rs1282921776 N.D. missenseAArg [R]3174
contig referenceTSer [S]3174
28405179614 rs561344388 0.000byFreqWith1000GenomeData0.0002 missenseTPhe [F]2173
contig referenceCSer [S]2173
28405185608 rs189103810 0.002byClusterbyFreqWith1000GenomeData0.0002 missenseAAsp [D]2171
contig referenceTVal [V]2171
28405190603 rs782554332 0.000byFreq synonymousGAla [A]3169
contig referenceAAla [A]3169
28405195598 rs782193801 N.D. missenseAMet [M]1168
contig referenceGVal [V]1168
28405197596 rs782773293 0.000 missenseTPhe [F]2167
contig referenceCSer [S]2167
28405199594 rs781898209 0.000byFreq synonymousAAla [A]3166
contig referenceGAla [A]3166
28405205588 rs547130406 0.000byFreqWith1000GenomeData0.0002 synonymousTSer [S]3164
contig referenceCSer [S]3164
28405209584 rs1329858008 N.D. missenseTVal [V]2163
contig referenceCAla [A]2163
28405210583 rs782701765 0.000 missenseAThr [T]1163
contig referenceGAla [A]1163
28405219574 rs1411766250 N.D. missenseTPhe [F]1160
contig referenceCLeu [L]1160
28405229564 rs781782838 0.000byFreq synonymousTAsp [D]3156
contig referenceCAsp [D]3156
28405235558 rs782480845 0.000 synonymousTLeu [L]3154
contig referenceCLeu [L]3154
28405238555 rs1385570299 N.D. synonymousTLeu [L]3153
contig referenceCLeu [L]3153
28405251542 rs782658152 0.000 missenseAAsn [N]2149
contig referenceTIle [I]2149
28405254539 rs868918890 N.D. missenseAHis [H]2148
contig referenceGArg [R]2148
28405257536 rs782255493 0.000 missenseTVal [V]2147
contig referenceGGly [G]2147
28405260533 rs782556806 0.000byClusterbyFreq missenseCPro [P]2146
contig referenceTLeu [L]2146
28405265528 rs782680733 0.000 synonymousTPhe [F]3144
contig referenceCPhe [F]3144
28405269524 rs782194840 0.000 missenseGCys [C]2143
contig referenceATyr [Y]2143
28405271522 rs61732735 0.027 synonymousGGly [G]3142
contig referenceCGly [G]3142
28405272521 rs782313163 0.000byFreq missenseTVal [V]2142
contig referenceGGly [G]2142
28405274519 rs1231943068 N.D. synonymousGVal [V]3141
contig referenceCVal [V]3141
28405278515 rs781968356 0.000 missenseCPro [P]2140
contig referenceAHis [H]2140
28405283510 rs376191377 0.001byClusterbyFreqWith1000GenomeData0.0012 synonymousAGln [Q]3138
contig referenceGGln [Q]3138
28405303490 rs782392217 0.000 missenseAIle [I]1132
contig referenceGVal [V]1132
28405304489 rs781985314 0.000 synonymousTSer [S]3131
contig referenceCSer [S]3131
28405305488 rs782164370 0.000byFreq missenseATyr [Y]2131
contig referenceCSer [S]2131
28405308485 rs369191223 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCAla [A]2130
contig referenceTVal [V]2130
28405313480 rs781936175 0.000 synonymousTAla [A]3128
contig referenceCAla [A]3128
28405314479 rs782039362 0.000 missenseTVal [V]2128
contig referenceCAla [A]2128
28405319474 rs375678730 0.000byCluster synonymousTLeu [L]3126
contig referenceCLeu [L]3126
28405327466 rs781880832 0.000 missenseGVal [V]1124
contig referenceCLeu [L]1124
28405331462 rs372432334 N.D. synonymousALeu [L]3122
contig referenceGLeu [L]3122
28405333460 rs1238429062 N.D. synonymousTLeu [L]1122
contig referenceCLeu [L]1122
28405334459 rs782069236 0.000 frame shift-Trp [W]3122
contig referenceGLeu [L]3122
28405336457 rs782511472 0.000 missenseCPro [P]1121
contig referenceTSer [S]1121
28405344449 rs1376687492 N.D. missenseCAla [A]2118
contig referenceTVal [V]2118
28405345448 rs1280324301 N.D. missenseCLeu [L]1118
contig referenceGVal [V]1118
28405353440 rs976094600 N.D. missenseTLeu [L]2115
contig referenceCPro [P]2115
28405356437 rs369959215 0.001byClusterbyFreq missenseAHis [H]2114
missenseTLeu [L]2114
contig referenceGArg [R]2114
28405357436 rs551213215 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTCys [C]1114
contig referenceCArg [R]1114
28405358435 rs782563725 0.000 synonymousTArg [R]3113
contig referenceCArg [R]3113
28405367426 rs782227130 0.000 synonymousCSer [S]3110
contig referenceTSer [S]3110
28405368425 rs201076728 0.001byClusterbyFreq missenseAAsn [N]2110
contig referenceGSer [S]2110
28405372421 rs985235861 N.D. missenseTTyr [Y]1109
contig referenceGAsp [D]1109
28405376417 rs569488490 0.000With1000GenomeData0.0002 missenseCCys [C]3107
contig referenceGTrp [W]3107
28405381412 rs782248108 0.000 missenseAThr [T]1106
contig referenceGAla [A]1106
28405387406 rs1417608734 N.D. synonymousTLeu [L]1104
contig referenceCLeu [L]1104
28405398395 rs782420184 0.000 missenseTLeu [L]2100
contig referenceCSer [S]2100
28405402391 rs201862124 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseCLeu [L]199
contig referenceTPhe [F]199
28405403390 rs371270310 0.007byClusterbyFreqWith1000GenomeData0.0018 synonymousALeu [L]398
contig referenceCLeu [L]398
28405411382 rs782303015 0.000byFreq missenseAMet [M]196
contig referenceGVal [V]196
28405419374 rs782374448 N.D. missenseAAsp [D]293
contig referenceGGly [G]293
28405420373 rs374179004 0.000byClusterbyFreq missenseASer [S]193
contig referenceGGly [G]193
28405424369 rs1470973726 N.D. synonymousAVal [V]391
contig referenceGVal [V]391
28405425368 rs1244416808 N.D. missenseCAla [A]291
contig referenceTVal [V]291
28405426367 rs782074930 0.000 missenseCLeu [L]191
contig referenceGVal [V]191
28405432361 rs566216707 0.000With1000GenomeData0.0002 missenseGVal [V]189
contig referenceAMet [M]189
28405438355 rs1490390847 N.D. missenseGVal [V]187
missenseTPhe [F]187
contig referenceCLeu [L]187
28405440353 rs1215130881 N.D. missenseTIle [I]286
contig referenceCThr [T]286
28405466327 rs782044500 0.000byFreq synonymousGGlu [E]377
contig referenceAGlu [E]377
28405891320 rs375346186 N.D. missenseCThr [T]275
contig referenceTMet [M]275
28405896315 rs997537374 N.D. synonymousAPro [P]373
contig referenceCPro [P]373
28405909302 rs782425806 0.000byFreq missenseTLeu [L]269
contig referenceGArg [R]269
28405910301 rs781941176 0.000byFreq missenseGGly [G]169
contig referenceCArg [R]169
28405916295 rs782054684 0.000 missenseTCys [C]167
contig referenceASer [S]167
28405921290 rs868935742 N.D. missenseTVal [V]265
contig referenceGGly [G]265
28405922289 rs375000218 0.000byCluster missenseASer [S]165
missenseCArg [R]165
missenseTCys [C]165
contig referenceGGly [G]165
28405925286 rs782360877 0.000byFreq missenseCArg [R]164
contig referenceGGly [G]164
28405926285 rs41297071 0.006byClusterbyFreqWith1000GenomeData0.0072 missenseCSer [S]363
missenseTSer [S]363
synonymousAArg [R]363
contig referenceGArg [R]363
28405927284 rs782144071 0.000 missenseALys [K]263
missenseCThr [T]263
contig referenceGArg [R]263
28405934277 rs782713098 0.000 missenseASer [S]161
contig referenceCArg [R]161
28405939272 rs781784648 0.000 missenseCAla [A]259
contig referenceGGly [G]259
28405947264 rs782481955 0.000 synonymousTGly [G]356
contig referenceCGly [G]356
28405948263 rs782596558 0.000byClusterbyFreq missenseTVal [V]256
contig referenceGGly [G]256
28405950261 rs1262103630 N.D. synonymousTLeu [L]355
contig referenceCLeu [L]355
28405951260 rs781863442 0.000 missenseGArg [R]255
contig referenceTLeu [L]255
28405957254 rs41297069 0.001byClusterbyFreqWith1000GenomeData0.0012 missenseTVal [V]253
contig referenceCAla [A]253
28405958253 rs782662279 0.000 missenseAThr [T]153
contig referenceGAla [A]153
28405960251 rs989971529 N.D. missenseTIle [I]252
contig referenceGSer [S]252
28405961250 rs782200700 0.000 missenseGGly [G]152
contig referenceASer [S]152
28405967244 rs1283377026 N.D. missenseASer [S]150
contig referenceCArg [R]150
28405971240 rs782442859 0.000 nonsenseA348
contig referenceGTrp [W]348
28405981230 rs1225815184 N.D. missenseGArg [R]245
contig referenceAGln [Q]245
28405992219 rs782620618 0.000 synonymousAPro [P]341
contig referenceGPro [P]341
28405995216 rs782214357 0.000 synonymousTGly [G]340
contig referenceCGly [G]340
28405997214 rs782393176 0.000byFreq missenseASer [S]140
contig referenceGGly [G]140
28405998212 rs782504750 0.000 CCTTCC [HLP]239
28405999212 rs1318309224 N.D. missenseCPro [P]239
contig referenceAGln [Q]239
28406000211 rs1383102791 N.D. nonsenseT139
contig referenceCGln [Q]139
28406002209 rs781988410 0.000 missenseCPro [P]238
contig referenceTLeu [L]238
28406003207 rs782778725 0.000 frame shiftGCAGAla [A]338
contig reference-Leu [L]338
28406007204 rs1387644920 N.D. missenseTPhe [F]336
contig referenceGLeu [L]336
28406017194 rs782288356 0.000 missenseGSer [S]233
contig referenceAAsn [N]233
28406018193 rs368562168 0.000byClusterbyFreq missenseTTyr [Y]133
contig referenceAAsn [N]133
28406020191 rs1469502369 N.D. missenseTVal [V]232
contig referenceCAla [A]232
28406022189 rs781932651 0.000 synonymousALeu [L]331
contig referenceGLeu [L]331
28406030181 rs41297067 0.001byClusterbyFreq missenseAIle [I]129
contig referenceGVal [V]129
28406033178 rs1474507516 N.D. missenseGVal [V]128
contig referenceCLeu [L]128
28406034177 rs566104551 0.000byFreqWith1000GenomeData0.0002 synonymousTPro [P]327
contig referenceGPro [P]327
28406041170 rs981175999 N.D. missenseCAla [A]225
contig referenceTVal [V]225
28406043168 rs781950269 0.000 synonymousAPro [P]324
synonymousCPro [P]324
contig referenceGPro [P]324
28406044167 rs1192448181 N.D. missenseAGln [Q]224
contig referenceCPro [P]224
28406047164 rs782128468 0.000 missenseAAsp [D]223
contig referenceGGly [G]223
28406048163 rs1249700111 N.D. missenseTCys [C]123
contig referenceGGly [G]123
28406050161 rs782817249 0.000byFreq missenseTLeu [L]222
contig referenceGArg [R]222
28406056155 rs1201319484 N.D. missenseCPro [P]220
contig referenceTLeu [L]220
28406058153 rs1460598793 N.D. synonymousTVal [V]319
contig referenceGVal [V]319
28406060151 rs781893195 0.000byFreq missenseAMet [M]119
contig referenceGVal [V]119
28406061150 rs1224800929 N.D. synonymousGAla [A]318
contig referenceCAla [A]318
28406065146 rs1336934743 N.D. missenseTVal [V]217
contig referenceCAla [A]217
28406069142 rs782456782 0.000 missenseAThr [T]116
contig referenceGAla [A]116
28406071140 rs782719362 0.000byFreq missenseTLeu [L]215
contig referenceCPro [P]215
28406072139 rs781838735 0.001byFreq missenseTSer [S]115
contig referenceCPro [P]115
28406078133 rs1328516882 N.D. missenseTSer [S]113
contig referenceGAla [A]113
28406083128 rs782469980 0.000 missenseTLeu [L]211
contig referenceCPro [P]211
28406088123 rs1313393337 N.D. synonymousGGlu [E]39
contig referenceAGlu [E]39
28406090121 rs1452106609 N.D. missenseALys [K]19
contig referenceGGlu [E]19
28406092119 rs1407109526 N.D. frame shift-Arg [R]28
contig referenceCPro [P]28
28406093118 rs41297065 0.001byClusterbyFreqWith1000GenomeData0.0012 missenseTSer [S]18
contig referenceCPro [P]18
28406094117 rs1408258376 N.D. synonymousTPro [P]37
contig referenceCPro [P]37
28406097114 rs375478405 0.001byClusterbyFreq missenseAArg [R]36
synonymousTSer [S]36
contig referenceCSer [S]36
28406100111 rs1475715896 N.D. synonymousAAla [A]35
contig referenceGAla [A]35
28406103108 rs1391709833 N.D. missenseGArg [R]34
contig referenceCSer [S]34
28406106105 rs782550981 0.000 synonymousTGly [G]33
contig referenceGGly [G]33