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SNP linked to Gene (geneID:7024) 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): 3
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_005653.4minus strandNP_005644.2reverseNT_029419.13GRCh38.p7<- currently shown
NM_001173453.1minus strandNP_001166924.1reverseNT_029419.13GRCh38.p7View snp on GeneModel
NM_001173452.1minus strandNP_001166923.1reverseNT_029419.13GRCh38.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_029419.13NM_005653.4NP_005644.2reverseminus strand336, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
510952412230 rs754434246 0.000 CTyr [Y]3503
contig referenceG3503
510952492222 rs1284436819 N.D. synonymousTLeu [L]1501
contig referenceCLeu [L]1501
510952502221 rs1041232820 N.D. missenseGMet [M]3500
contig referenceAIle [I]3500
510952512220 rs1354782098 N.D. missenseCThr [T]2500
contig referenceTIle [I]2500
510952522219 rs370683911 0.000byClusterbyFreq missenseTLeu [L]1500
contig referenceAIle [I]1500
510952552216 rs1190548643 N.D. missenseGVal [V]1499
contig referenceAIle [I]1499
510952572214 rs748016987 0.000 missenseGArg [R]2498
contig referenceAHis [H]2498
510952632208 rs758348402 N.D. missenseAAsn [N]2496
contig referenceGSer [S]2496
510952642207 rs149966729 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGly [G]1496
contig referenceASer [S]1496
510952642207 rs762602402 0.000 frame shift-Ala [A]1496
contig referenceASer [S]1496
510952692202 rs375189420 0.000byClusterbyFreq missenseGSer [S]2494
contig referenceAAsn [N]2494
510952772194 rs1191199719 N.D. synonymousCAla [A]3491
contig referenceAAla [A]3491
510959892192 rs1437722043 N.D. missenseAThr [T]1491
contig referenceGAla [A]1491
510960002181 rs1453764222 N.D. missenseGGly [G]2487
contig referenceAAsp [D]2487
510960042177 rs964364518 N.D. synonymousTLeu [L]1486
contig referenceCLeu [L]1486
510960122169 rs764345919 0.000 frame shift-Phe [F]2483
contig referenceGCys [C]2483
510960162165 rs1417967791 N.D. missenseTSer [S]1482
contig referenceGAla [A]1482
510960172164 rs752228965 0.000 missenseTAsp [D]3481
synonymousGGlu [E]3481
contig referenceAGlu [E]3481
510960202161 rs1391744586 N.D. synonymousGGlu [E]3480
contig referenceAGlu [E]3480
510960212160 rs1407427250 N.D. missenseGGly [G]2480
contig referenceAGlu [E]2480
510960222159 rs1322067847 N.D. missenseALys [K]1480
contig referenceGGlu [E]1480
510960262155 rs757940018 0.000 synonymousCPhe [F]3478
contig referenceTPhe [F]3478
510960402141 rs777662464 0.000 missenseGVal [V]1474
contig referenceAMet [M]1474
510987802136 rs1333792119 N.D. missenseGGly [G]2472
contig referenceAAsp [D]2472
510987872129 rs145072429 0.000byCluster missenseGVal [V]1470
contig referenceAIle [I]1470
510987902126 rs1229525359 N.D. missenseGVal [V]1469
contig referenceCLeu [L]1469
510987922124 rs751382745 0.000 missenseCAla [A]2468
contig referenceTVal [V]2468
510987932123 rs757231293 0.000 missenseCLeu [L]1468
contig referenceGVal [V]1468
510988032113 rs1378952165 N.D. synonymousGThr [T]3464
contig referenceAThr [T]3464
510988052111 rs1479657823 N.D. missenseTSer [S]1464
contig referenceAThr [T]1464
510988062110 rs149098520 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousGPro [P]3463
contig referenceAPro [P]3463
510988092107 rs1394119258 N.D. synonymousAGly [G]3462
contig referenceGGly [G]3462
510988102106 rs1257015019 N.D. missenseAGlu [E]2462
missenseCAla [A]2462
contig referenceGGly [G]2462
510988152101 rs774540274 0.000 missenseTAsn [N]3460
synonymousALys [K]3460
contig referenceGLys [K]3460
510988182098 rs1185643901 N.D. synonymousTTyr [Y]3459
contig referenceCTyr [Y]3459
510988252091 rs756014367 0.000 missenseGArg [R]2457
contig referenceAGln [Q]2457
510988302086 rs779255264 0.000 synonymousTIle [I]3455
contig referenceCIle [I]3455
510988412075 rs748441365 0.000byFreq missenseTSer [S]1452
contig referenceCPro [P]1452
510988422074 rs142162645 0.000byClusterbyFreq synonymousTSer [S]3451
contig referenceCSer [S]3451
510988462070 rs1016239640 N.D. missenseCThr [T]2450
contig referenceTIle [I]2450
510988532058 rs1303953363 N.D. -Leu [L]2446
510988562060 rs1402238962 N.D. missenseTPhe [F]1447
contig referenceCLeu [L]1447
510988582058 rs1397272198 N.D. missenseGArg [R]2446
contig referenceAGln [Q]2446
510988642051 rs1414251455 N.D. frame shiftAAsn [N]1444
contig reference-Ile [I]1444
510988692047 rs777916039 0.000 synonymousGGlu [E]3442
contig referenceAGlu [E]3442
510988702046 rs767575624 N.D. missenseGGly [G]2442
contig referenceAGlu [E]2442
510988722044 rs747418942 0.000byFreq synonymousGThr [T]3441
contig referenceAThr [T]3441
510988732043 rs972151463 N.D. missenseTIle [I]2441
contig referenceCThr [T]2441
510988752041 rs771495188 0.000byFreq missenseTPhe [F]3440
contig referenceGLeu [L]3440
510988772039 rs201600256 0.001byClusterbyFreqWith1000GenomeData0.0008 synonymousCLeu [L]1440
contig referenceTLeu [L]1440
510988912025 rs938520043 N.D. missenseCPro [P]2435
contig referenceTLeu [L]2435
510988922024 rs1226546166 N.D. synonymousTLeu [L]1435
contig referenceCLeu [L]1435
510989032013 rs1256549590 N.D. missenseGCys [C]2431
contig referenceATyr [Y]2431
510989072009 rs759868686 0.000byFreq missenseCLeu [L]1430
contig referenceAIle [I]1430
510989082008 rs1412312280 N.D. synonymousCAla [A]3429
contig referenceTAla [A]3429
510989102006 rs1207580573 N.D. missenseAThr [T]1429
contig referenceGAla [A]1429
510989152001 rs1208837022 N.D. missenseGCys [C]2427
contig referenceATyr [Y]2427
510996551997 rs1164544057 N.D. missenseCLeu [L]1426
contig referenceGVal [V]1426
510996561996 rs371909755 0.000byClusterbyFreq synonymousTPhe [F]3425
contig referenceCPhe [F]3425
510996591993 rs147813493 0.000byCluster missenseGLeu [L]3424
synonymousTPhe [F]3424
contig referenceCPhe [F]3424
510996671985 rs545750080 N.D. missenseASer [S]1422
contig referenceGGly [G]1422
510996701982 rs1270085703 N.D. missenseGAsp [D]1421
contig referenceAAsn [N]1421
510996721980 rs746437012 0.000 missenseTLeu [L]2420
contig referenceCSer [S]2420
510996761976 rs770075327 0.000 missenseAAsn [N]1419
contig referenceGAsp [D]1419
510996831969 rs1393909327 N.D. synonymousAGlu [E]3416
contig referenceGGlu [E]3416
510996841968 rs1475813423 N.D. missenseGGly [G]2416
contig referenceAGlu [E]2416
510996871965 rs1419814951 N.D. missenseGArg [R]2415
contig referenceAHis [H]2415
510996891962 rs1249966965 N.D. frame shiftAAla [A]2415
contig reference-His [H]2415
510996911961 rs775843507 0.000 missenseGGlu [E]1414
contig referenceALys [K]1414
510996911960 rs1050428942 N.D. (12bp) [QQQQ]3413
510996931959 rs748889776 0.000 missenseGArg [R]2413
contig referenceAGln [Q]2413
510996951957 rs922234590 N.D. synonymousAGln [Q]3412
contig referenceGGln [Q]3412
510997001952 rs1452774082 N.D. nonsenseT1411
contig referenceCGln [Q]1411
510997131939 rs768385328 0.000 synonymousGGln [Q]3406
contig referenceAGln [Q]3406
510997141938 rs1212058593 N.D. missenseTLeu [L]2406
contig referenceAGln [Q]2406
510997161936 rs570657963 0.000With1000GenomeData0.0002 missenseCHis [H]3405
synonymousGGln [Q]3405
contig referenceAGln [Q]3405
510997191933 rs1438561996 N.D. synonymousAGln [Q]3404
contig referenceGGln [Q]3404
510997221930 rs1302620172 N.D. synonymousAGlu [E]3403
contig referenceGGlu [E]3403
510997241928 rs932409427 N.D. missenseALys [K]1403
contig referenceGGlu [E]1403
510997251927 rs1260145177 N.D. synonymousAArg [R]3402
contig referenceGArg [R]3402
510997291923 rs761365425 0.000 nonsenseA2401
contig referenceTLeu [L]2401
510997301922 rs1242418128 N.D. synonymousCLeu [L]1401
contig referenceTLeu [L]1401
510997321920 rs766994982 0.000 missenseCPro [P]2400
contig referenceAGln [Q]2400
510997351917 rs201898391 0.000byCluster missenseAGln [Q]2399
contig referenceTLeu [L]2399
510997451907 rs985189103 N.D. missenseGGlu [E]1396
contig referenceCGln [Q]1396
510997511901 rs760694096 0.000 missenseAIle [I]1394
contig referenceGVal [V]1394
510997521900 rs376531908 0.000byClusterbyFreq synonymousCTyr [Y]3393
contig referenceTTyr [Y]3393
510997581894 rs1467436247 N.D. synonymousTThr [T]3391
contig referenceCThr [T]3391
510997671885 rs1222861929 N.D. synonymousCPro [P]3388
contig referenceAPro [P]3388
510997701882 rs753711543 0.000 synonymousAArg [R]3387
contig referenceTArg [R]3387
510997711881 rs79340002 0.000byCluster missenseCPro [P]2387
contig referenceGArg [R]2387
510997721880 rs369701126 0.000byCluster missenseASer [S]1387
missenseTCys [C]1387
contig referenceCArg [R]1387
510997731879 rs539572762 0.000With1000GenomeData0.0002 synonymousAVal [V]3386
contig referenceGVal [V]3386
510997791873 rs751783634 0.000 synonymousAArg [R]3384
contig referenceGArg [R]3384
511019351872 rs766452740 0.000byFreq missenseAGln [Q]2384
contig referenceGArg [R]2384
511019361871 rs936452375 N.D. missenseTTrp [W]1384
contig referenceCArg [R]1384
511019391868 rs1205972873 N.D. missenseASer [S]1383
contig referenceGGly [G]1383
511019401867 rs1230625173 N.D. synonymousGLys [K]3382
contig referenceALys [K]3382
511019421865 rs1384327704 N.D. nonsenseT1382
contig referenceALys [K]1382
511019451862 rs1480043533 N.D. synonymousCLeu [L]1381
contig referenceTLeu [L]1381
511019541853 rs776753812 0.000 missenseCLeu [L]1378
contig referenceTPhe [F]1378
511019551852 rs759356811 0.000 synonymousCLeu [L]3377
contig referenceTLeu [L]3377
511019591848 rs1361539904 N.D. missenseALys [K]2376
contig referenceGArg [R]2376
511019601847 rs765005273 0.000 missenseGGly [G]1376
contig referenceAArg [R]1376
511019631844 rs1164034623 N.D. missenseCLeu [L]1375
contig referenceAIle [I]1375
511019711836 rs1424208683 N.D. missenseTVal [V]2372
contig referenceCAla [A]2372
511019761831 rs141233230 0.000byClusterbyFreq synonymousTGly [G]3370
contig referenceCGly [G]3370
511019791828 rs561872975 0.000With1000GenomeData0.0002 nonsenseA3369
contig referenceTCys [C]3369
511019871820 rs959403892 N.D. missenseALys [K]1367
contig referenceCGln [Q]1367
511019971810 rs200039224 0.000byClusterWith1000GenomeData0.0002 missenseGGlu [E]3363
contig referenceTAsp [D]3363
511019991808 rs750531479 0.000 missenseAAsn [N]1363
contig referenceGAsp [D]1363
511020011806 rs756225214 0.000 missenseALys [K]2362
contig referenceGArg [R]2362
511020031804 rs780515730 0.000 synonymousCThr [T]3361
contig referenceTThr [T]3361
511020181789 rs749852425 0.000 synonymousCAsp [D]3356
contig referenceTAsp [D]3356
511020221785 rs1163845920 N.D. missenseTVal [V]2355
contig referenceCAla [A]2355
511036771774 rs760729382 0.000byFreq synonymousTAsn [N]3351
contig referenceCAsn [N]3351
511036951756 rs1286296048 N.D. synonymousTPhe [F]3345
contig referenceCPhe [F]3345
511036991752 rs908793006 N.D. missenseTIle [I]2344
contig referenceCThr [T]2344
511037011750 rs1289143887 N.D. synonymousCSer [S]3343
contig referenceTSer [S]3343
511037021749 rs940248001 N.D. missenseGCys [C]2343
contig referenceCSer [S]2343
511037081743 rs1190833754 N.D. missenseAHis [H]2341
contig referenceGArg [R]2341
511037091742 rs766513355 0.000 missenseTCys [C]1341
contig referenceCArg [R]1341
511037111740 rs1012545595 N.D. missenseGSer [S]2340
contig referenceAAsn [N]2340
511037141737 rs563834540 0.000byFreqWith1000GenomeData0.0002 missenseAGln [Q]2339
missenseTLeu [L]2339
contig referenceGArg [R]2339
511037151736 rs1046399123 N.D. nonsenseT1339
contig referenceCArg [R]1339
511037191732 rs1338030933 N.D. synonymousALeu [L]3337
contig referenceGLeu [L]3337
511037311720 rs1195560314 N.D. synonymousCAla [A]3333
contig referenceTAla [A]3333
511037341717 rs1393301696 N.D. synonymousGGlu [E]3332
contig referenceAGlu [E]3332
511037411710 rs779290207 0.000 missenseTLeu [L]2330
contig referenceCPro [P]2330
511037451706 rs1430913693 N.D. missenseGAla [A]1329
contig referenceAThr [T]1329
511037461705 rs1159414608 N.D. synonymousTThr [T]3328
contig referenceCThr [T]3328
511037511700 rs1387491001 N.D. missenseCPro [P]1327
contig referenceAThr [T]1327
511037581693 rs188941459 0.000byClusterWith1000GenomeData0.0002 synonymousTLeu [L]3324
contig referenceCLeu [L]3324
511041551687 rs753299621 0.000 missenseAGlu [E]3322
synonymousCAsp [D]3322
contig referenceTAsp [D]3322
511041581684 rs758826942 0.000byFreq synonymousCThr [T]3321
contig referenceAThr [T]3321
511041661676 rs778282361 0.000byClusterbyFreq missenseTSer [S]1319
contig referenceCPro [P]1319
511041691673 rs376607235 0.000byClusterbyFreq missenseAThr [T]1318
missenseGAla [A]1318
contig referenceCPro [P]1318
511041701672 rs1021437659 N.D. synonymousTPro [P]3317
contig referenceCPro [P]3317
511041711671 rs780806650 0.000 missenseAHis [H]2317
contig referenceCPro [P]2317
511041721670 rs1234968429 N.D. missenseAThr [T]1317
contig referenceCPro [P]1317
511041781664 rs868768572 N.D. missenseCGln [Q]1315
contig referenceGGlu [E]1315
511041811661 rs745337013 0.000 missenseTSer [S]1314
contig referenceCPro [P]1314
511041841658 rs755697987 0.000 missenseALys [K]1313
contig referenceCGln [Q]1313
511041861656 rs1199322409 N.D. missenseGArg [R]2312
contig referenceAHis [H]2312
511041881654 rs1252696746 N.D. synonymousTAsn [N]3311
contig referenceCAsn [N]3311
511041901652 rs779842186 0.000byFreq missenseGAsp [D]1311
contig referenceAAsn [N]1311
511042011641 rs1181280100 N.D. missenseGSer [S]2307
contig referenceAAsn [N]2307
511065291634 rs757733838 0.000byFreq nonsenseT1305
missenseALys [K]1305
contig referenceGGlu [E]1305
511065321631 rs750146533 0.000byFreq missenseAArg [R]1304
contig referenceGGly [G]1304
511065351628 rs1386955268 N.D. missenseAIle [I]1303
contig referenceCLeu [L]1303
511065411622 rs1460021124 N.D. missenseGVal [V]1301
contig referenceTPhe [F]1301
511065431620 rs904788224 N.D. missenseCThr [T]2300
missenseTIle [I]2300
contig referenceGSer [S]2300
511065481615 rs146950115 0.000byClusterbyFreq synonymousCHis [H]3298
contig referenceTHis [H]3298
511065571606 rs140942477 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTAsn [N]3295
contig referenceCAsn [N]3295
511065581605 rs1310725019 N.D. missenseCThr [T]2295
contig referenceAAsn [N]2295
511065681595 rs754127036 0.000byFreq missenseAThr [T]1292
missenseTSer [S]1292
contig referenceCPro [P]1292
511065721590 rs35995781 N.D. frame shiftCIle [I]2291
contig reference-Ser [S]2291
511065751588 rs997974930 N.D. synonymousTSer [S]3289
contig referenceCSer [S]3289
511065761587 rs1382587564 N.D. missenseTPhe [F]2289
contig referenceCSer [S]2289
511065771580 rs746374425 0.000byCluster frame shift-Pro [P]1287
contig reference(7bp)Asn [N]1287
511065811582 rs1297625289 N.D. synonymousCAsn [N]3287
contig referenceTAsn [N]3287
511065821581 rs567082942 0.000With1000GenomeData0.0002 missenseGSer [S]2287
contig referenceAAsn [N]2287
511065841579 rs1324688317 N.D. synonymousGVal [V]3286
contig referenceCVal [V]3286
511065861577 rs1226749128 N.D. missenseAIle [I]1286
contig referenceGVal [V]1286
511065871576 rs778640597 0.000 synonymousCTyr [Y]3285
contig referenceTTyr [Y]3285
511065901573 rs370327014 0.000byClusterbyFreq synonymousAThr [T]3284
contig referenceGThr [T]3284
511065911572 rs202169731 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTMet [M]2284
contig referenceCThr [T]2284
511065941569 rs776708240 0.000 missenseAAsn [N]2283
contig referenceTIle [I]2283
511065961567 rs746172808 0.000 missenseTAsp [D]3282
contig referenceGGlu [E]3282
511065981565 rs1188724226 N.D. missenseALys [K]1282
contig referenceGGlu [E]1282
511065991564 rs140688280 0.000byClusterbyFreq synonymousTPro [P]3281
contig referenceCPro [P]3281
511066051558 rs775658067 0.000 synonymousGPro [P]3279
synonymousTPro [P]3279
contig referenceAPro [P]3279
511066091554 rs1200228308 N.D. missenseTPhe [F]2278
contig referenceCSer [S]2278
511072471538 rs749354125 0.000byCluster missenseGVal [V]1273
contig referenceAIle [I]1273
511072481537 rs1234185238 N.D. synonymousTThr [T]3272
contig referenceCThr [T]3272
511072531532 rs566917705 0.000byFreqWith1000GenomeData0.0002 missenseGAla [A]1271
missenseTSer [S]1271
contig referenceAThr [T]1271
511072571528 rs1340740834 N.D. synonymousCTyr [Y]3269
contig referenceTTyr [Y]3269
511072621523 rs371800535 0.000byCluster missenseCPro [P]1268
contig referenceTSer [S]1268
511072641521 rs1438761903 N.D. missenseTLeu [L]2267
contig referenceCPro [P]2267
511072691516 rs762413238 0.000 synonymousCTyr [Y]3265
contig referenceTTyr [Y]3265
511072721513 rs1374170849 N.D. synonymousGLys [K]3264
contig referenceALys [K]3264
511072921493 rs1225642545 N.D. missenseGAla [A]1258
contig referenceAThr [T]1258
511072951490 rs772267193 0.000 nonsenseT1257
contig referenceCArg [R]1257
511073031481 rs866387446 N.D.byCluster frame shiftAAsn [N]1254
contig reference-Met [M]1254
511073141471 rs375194514 0.000byCluster synonymousCAsp [D]3250
contig referenceTAsp [D]3250
511073171468 rs760205763 0.000byFreq synonymousAThr [T]3249
contig referenceGThr [T]3249
511073181467 rs1275596340 N.D. missenseTMet [M]2249
contig referenceCThr [T]2249
511073251460 rs1308267565 N.D. missenseALys [K]1247
contig referenceCGln [Q]1247
511073261459 rs1319258414 N.D. synonymousALys [K]3246
contig referenceGLys [K]3246
511073271458 rs1467557321 N.D. missenseGArg [R]2246
contig referenceALys [K]2246
511073301455 rs1213684996 N.D. missenseALys [K]2245
contig referenceGArg [R]2245
511073321453 rs1260245193 N.D. missenseAGlu [E]3244
contig referenceCAsp [D]3244
511073341451 rs1469061447 N.D. missenseAAsn [N]1244
contig referenceGAsp [D]1244
511091331426 rs768788734 0.000 synonymousAIle [I]3235
contig referenceCIle [I]3235
511091471412 rs1307510942 N.D. missenseTSer [S]1231
contig referenceGAla [A]1231
511091481411 rs779146893 0.000 synonymousASer [S]3230
contig referenceGSer [S]3230
511091491410 rs368546144 0.000byCluster missenseTLeu [L]2230
contig referenceCSer [S]2230
511091521407 rs1482550617 N.D. missenseGArg [R]2229
contig referenceAHis [H]2229
511091551404 rs138325819 0.000byClusterbyFreq missenseCSer [S]2228
contig referenceTLeu [L]2228
511091581401 rs1259299971 N.D. missenseGArg [R]2227
contig referenceAHis [H]2227
511091591400 rs773621505 0.000 missenseAAsn [N]1227
contig referenceCHis [H]1227
511091651394 rs142263327 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGAla [A]1225
contig referenceAThr [T]1225
511091741385 rs771210565 0.000byFreq missenseAArg [R]1222
contig referenceGGly [G]1222
511091751384 rs763123343 0.000byFreq synonymousTAsn [N]3221
contig referenceCAsn [N]3221
511091841375 rs1168478448 N.D. missenseCAsp [D]3218
contig referenceGGlu [E]3218
511091871372 rs759248481 0.000 missenseCAsn [N]3217
synonymousALys [K]3217
contig referenceGLys [K]3217
511091931366 rs1024690603 N.D. synonymousTThr [T]3215
contig referenceCThr [T]3215
511091941365 rs764709111 0.000byFreq missenseAAsn [N]2215
contig referenceCThr [T]2215
511091951364 rs752249051 0.000 missenseGAla [A]1215
contig referenceAThr [T]1215
511091981361 rs1244621225 N.D. missenseCHis [H]1214
contig referenceGAsp [D]1214
511092091350 rs762404515 0.000 missenseAGln [Q]2210
contig referenceGArg [R]2210
511092141345 rs1327571945 N.D. synonymousTPro [P]3208
contig referenceAPro [P]3208
511092191340 rs1391856747 N.D. missenseAMet [M]1207
contig referenceGVal [V]1207
511092231336 rs1271275337 N.D. synonymousALys [K]3205
contig referenceGLys [K]3205
511092351324 rs764047059 0.000 synonymousCHis [H]3201
contig referenceTHis [H]3201
511092451314 rs1215787617 N.D. missenseCThr [T]2198
contig referenceTMet [M]2198
511092501309 rs751468261 0.000 synonymousTPhe [F]3196
contig referenceCPhe [F]3196
511092531306 rs146794902 0.000byClusterWith1000GenomeData0.0002 synonymousAGlu [E]3195
contig referenceGGlu [E]3195
511092561303 rs1281591050 N.D. synonymousGThr [T]3194
contig referenceAThr [T]3194
511092591300 rs111782281 0.500 synonymousTSer [S]3193
contig referenceCSer [S]3193
511092651293 rs1211072677 N.D. frame shiftGTrp [W]2191
contig reference-Cys [C]2191
511092671292 rs1282038971 N.D. missenseASer [S]1191
missenseGGly [G]1191
contig referenceTCys [C]1191
511108791283 rs762470631 0.000 nonsenseT1188
contig referenceCGln [Q]1188
511108891273 rs763519306 0.000 synonymousCSer [S]3184
synonymousGSer [S]3184
contig referenceTSer [S]3184
511108921270 rs556519985 0.000With1000GenomeData0.0002 synonymousTThr [T]3183
contig referenceAThr [T]3183
511108931269 rs774343647 0.000 missenseTIle [I]2183
contig referenceCThr [T]2183
511108951267 rs761715540 0.000 missenseTSer [S]3182
contig referenceGArg [R]3182
511109001262 rs767398813 0.000 missenseGGlu [E]1181
contig referenceALys [K]1181
511109031259 rs369254036 0.000byClusterbyFreq missenseCPro [P]1180
contig referenceGAla [A]1180
511109041258 rs756004025 0.000 synonymousAPro [P]3179
contig referenceTPro [P]3179
511109071255 rs1468226422 N.D. missenseAGlu [E]3178
contig referenceCAsp [D]3178
511109081254 rs959660120 N.D. missenseGGly [G]2178
contig referenceAAsp [D]2178
511109131249 rs990711439 N.D. synonymousALeu [L]3176
contig referenceGLeu [L]3176
511109201242 rs1159393499 N.D. missenseCAla [A]2174
contig referenceAGlu [E]2174
511109211241 rs1467079161 N.D. missenseALys [K]1174
contig referenceGGlu [E]1174
511109221240 rs1360271889 N.D. synonymousAVal [V]3173
contig referenceGVal [V]3173
511109311231 rs765505719 0.000byFreq synonymousCLeu [L]3170
synonymousGLeu [L]3170
contig referenceALeu [L]3170
511109331229 rs1399434061 N.D. synonymousTLeu [L]1170
contig referenceCLeu [L]1170
511109341228 rs752873796 0.000 synonymousGGln [Q]3169
contig referenceAGln [Q]3169
511109461216 rs1320459887 N.D. synonymousCAla [A]3165
contig referenceTAla [A]3165
511109471215 rs758434387 0.000byFreq missenseGGly [G]2165
missenseTVal [V]2165
contig referenceCAla [A]2165
511109481214 rs747534108 0.000 missenseAThr [T]1165
contig referenceGAla [A]1165
511109551207 rs1327391279 N.D. missenseAGlu [E]3162
contig referenceTAsp [D]3162
511109571205 rs915173272 N.D. missenseAAsn [N]1162
contig referenceGAsp [D]1162
511109581204 rs757806683 0.000 synonymousTIle [I]3161
contig referenceCIle [I]3161
511109601202 rs1334288481 N.D. missenseGVal [V]1161
contig referenceAIle [I]1161
511109671195 rs768310722 0.000byClusterbyFreq synonymousAVal [V]3158
contig referenceGVal [V]3158
511109761186 rs746185739 0.000 synonymousAPro [P]3155
synonymousTPro [P]3155
contig referenceGPro [P]3155
511109791183 rs1241452997 N.D. synonymousAIle [I]3154
contig referenceCIle [I]3154
511163161177 rs1335268196 N.D. missenseGMet [M]3152
contig referenceAIle [I]3152
511163191174 rs1234984110 N.D. synonymousTAsp [D]3151
contig referenceCAsp [D]3151
511163201173 rs1275852986 N.D. missenseGGly [G]2151
contig referenceAAsp [D]2151
511163371156 rs1228199891 N.D. synonymousGPro [P]3145
contig referenceTPro [P]3145
511163571136 rs1356678112 N.D. missenseTCys [C]1139
contig referenceGGly [G]1139
511163601133 rs756468559 0.000 missenseCGln [Q]1138
contig referenceGGlu [E]1138
511163731120 rs149625115 0.000byClusterbyFreqWith1000GenomeData0.0006 synonymousAGlu [E]3133
contig referenceGGlu [E]3133
511163761117 rs748948773 0.000 synonymousAThr [T]3132
contig referenceTThr [T]3132
511163791114 rs1275339604 N.D. synonymousTTyr [Y]3131
contig referenceCTyr [Y]3131
511163821111 rs1290460146 N.D. synonymousAGln [Q]3130
contig referenceGGln [Q]3130
511163901103 rs1436336859 N.D. missenseGGly [G]1128
contig referenceAArg [R]1128
511164001093 rs768234126 0.000 synonymousTPhe [F]3124
contig referenceCPhe [F]3124
511164061087 rs188280792 0.000byClusterWith1000GenomeData0.0002 synonymousAVal [V]3122
contig referenceGVal [V]3122
511164101083 rs747611496 0.000byFreq missenseAHis [H]2121
missenseTLeu [L]2121
contig referenceGArg [R]2121
511164111082 rs1332257507 N.D. missenseTCys [C]1121
contig referenceCArg [R]1121
511176741069 rs143345508 0.000byClusterbyFreq synonymousAVal [V]3116
contig referenceGVal [V]3116
511176761067 rs1355814824 N.D. missenseTLeu [L]1116
contig referenceGVal [V]1116
511176811062 rs771702164 0.000 missenseCThr [T]2114
contig referenceALys [K]2114
511176831060 rs1447139994 N.D. synonymousAGly [G]3113
synonymousTGly [G]3113
contig referenceCGly [G]3113
511176841059 rs1167552738 N.D. missenseTVal [V]2113
contig referenceGGly [G]2113
511176861057 rs777480029 0.000 missenseGLys [K]3112
contig referenceTAsn [N]3112
511176871056 rs1436319973 N.D. missenseGSer [S]2112
contig referenceAAsn [N]2112
511176941049 rs1282483108 N.D. nonsenseT1110
contig referenceGGlu [E]1110
511176971046 rs1189395581 N.D. missenseGAla [A]1109
contig referenceCPro [P]1109
511177001043 rs988245617 N.D. missenseAIle [I]1108
contig referenceCLeu [L]1108
511177011042 rs746916673 0.000byFreq synonymousGGlu [E]3107
contig referenceAGlu [E]3107
511177031040 rs1401259536 N.D. missenseALys [K]1107
contig referenceGGlu [E]1107
511177041039 rs753242070 0.000byCluster synonymousGGly [G]3106
contig referenceAGly [G]3106
511177061037 rs1382674115 N.D. missenseAArg [R]1106
contig referenceGGly [G]1106
511177171026 rs776657522 0.000byFreq missenseGSer [S]2102
contig referenceAAsn [N]2102
511177201023 rs759197805 0.000 missenseGGly [G]2101
contig referenceAAsp [D]2101
511177211022 rs1186797784 N.D. missenseAAsn [N]1101
contig referenceGAsp [D]1101
511177291014 rs769638214 0.000 missenseAGln [Q]298
contig referenceGArg [R]298
511177301013 rs1304439749 N.D. nonsenseT198
contig referenceCArg [R]198
511177331010 rs1421217968 N.D. missenseGVal [V]197
contig referenceAIle [I]197
511177371006 rs774553605 0.000byFreq nonsenseG395
synonymousCTyr [Y]395
contig referenceTTyr [Y]395
511177401003 rs1231504439 N.D. synonymousCSer [S]394
contig referenceTSer [S]394
51118634982 rs371462022 0.000byClusterbyFreq synonymousAThr [T]387
synonymousTThr [T]387
contig referenceGThr [T]387
51118635981 rs1189041341 N.D. missenseALys [K]287
contig referenceCThr [T]287
51118654962 rs1202196097 N.D. missenseTPhe [F]181
contig referenceCLeu [L]181
51118658958 rs948606048 N.D. synonymousAVal [V]379
contig referenceGVal [V]379
51118679937 rs1225837824 N.D. synonymousCCys [C]372
contig referenceTCys [C]372
51118689927 rs766483884 0.000 missenseGCys [C]269
contig referenceATyr [Y]269
51118691925 rs1044655952 N.D. synonymousGGln [Q]368
contig referenceAGln [Q]368
51118692924 rs146119086 N.D. frame shift-His [H]268
contig referenceAGln [Q]268
51118703913 rs1223430401 N.D. synonymousTIle [I]364
contig referenceCIle [I]364
51118704912 rs1161155075 N.D. missenseCThr [T]264
contig referenceTIle [I]264
51118710906 rs776997163 0.000 missenseGSer [S]262
contig referenceAAsn [N]262
51118711905 rs760145361 0.000 missenseGAsp [D]162
contig referenceAAsn [N]162
51118715901 rs1165606054 N.D. missenseALys [K]360
contig referenceTAsn [N]360
51118723893 rs1396708923 N.D. missenseTSer [S]158
contig referenceCPro [P]158
51118727889 rs368704810 0.000byCluster missenseCPhe [F]356
contig referenceGLeu [L]356
51118729887 rs928485274 N.D. synonymousCLeu [L]156
contig referenceTLeu [L]156
51118732884 rs1293152061 N.D. missenseGGly [G]155
contig referenceASer [S]155
51118733883 rs138916160 0.001byClusterbyFreqWith1000GenomeData0.0002 synonymousASer [S]354
contig referenceGSer [S]354
51118734882 rs1393478850 N.D. missenseTLeu [L]254
contig referenceCSer [S]254
51118737877 rs1286791871 N.D. -353
51118737879 rs1350286986 N.D. missenseGGly [G]253
contig referenceAGlu [E]253
51118739877 rs138188008 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousGGlu [E]352
contig referenceAGlu [E]352
51118740876 rs1275614698 N.D. missenseGGly [G]252
contig referenceAGlu [E]252
51118757859 rs878949094 N.D. synonymousALeu [L]346
contig referenceGLeu [L]346
51118760856 rs763785591 0.000 synonymousGAla [A]345
contig referenceAAla [A]345
51172313831 rs754524525 0.000 missenseTVal [V]237
contig referenceCAla [A]237
51172317827 rs1342279215 N.D. missenseCArg [R]136
contig referenceGGly [G]136
51172319825 rs370243202 0.000byCluster missenseGGly [G]235
contig referenceCAla [A]235
51172326818 rs1021143968 N.D. synonymousTLeu [L]133
contig referenceCLeu [L]133
51172327817 rs374015972 0.000byClusterbyFreq synonymousGGlu [E]332
contig referenceAGlu [E]332
51172330814 rs748065303 0.000 missenseCHis [H]331
contig referenceGGln [Q]331
51172342802 rs1383118091 N.D. synonymousTSer [S]327
contig referenceCSer [S]327
51172345799 rs1458397236 N.D. synonymousTLeu [L]326
contig referenceGLeu [L]326
51172353791 rs1315785110 N.D. missenseTSer [S]124
contig referenceGAla [A]124
51172357787 rs1344299924 N.D. synonymousCPhe [F]322
contig referenceTPhe [F]322
51172360784 rs772094502 0.000 synonymousTAsp [D]321
contig referenceCAsp [D]321
51172370774 rs773222727 0.000 nonsenseA218
contig referenceTLeu [L]218
51172372772 rs375984121 0.000byCluster synonymousAGly [G]317
synonymousTGly [G]317
contig referenceGGly [G]317
51172376768 rs1162218347 N.D. missenseGCys [C]216
contig referenceCSer [S]216
51172379765 rs746719914 0.000 missenseCAla [A]215
contig referenceAGlu [E]215
51172383761 rs770761052 0.000 missenseTPhe [F]114
contig referenceAIle [I]114
51172393751 rs988012209 N.D. synonymousGAla [A]310
synonymousTAla [A]310
contig referenceCAla [A]310
51172396748 rs912066468 N.D. synonymousTLeu [L]39
contig referenceGLeu [L]39
51172397747 rs775568599 0.000 missenseCPro [P]29
contig referenceTLeu [L]29
51172402742 rs763216240 0.000 synonymousALeu [L]37
synonymousTLeu [L]37
contig referenceGLeu [L]37
51172403741 rs1007467681 N.D. missenseGArg [R]27
contig referenceTLeu [L]27
51172404740 rs1283805683 N.D. missenseGVal [V]17
contig referenceCLeu [L]17
51172411733 rs142061704 0.000byClusterbyFreq synonymousAAla [A]34
contig referenceTAla [A]34
51172413731 rs1187189577 N.D. missenseAThr [T]14
contig referenceGAla [A]14
51172417727 rs774376310 0.000 synonymousAAla [A]32
contig referenceCAla [A]32

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