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SNP linked to Gene (geneID:4319) 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_002425.2minus strandNP_002416.1reverseNT_033899.9GRCh38.p7<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_033899.9NM_002425.2NP_002416.1reverseminus strand545, 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
1027705291730 rs1468199785 N.D. -
1027706781581 rs576690986 N.D.byCluster -
1027707951466 rs760780710 0.000 CGln [Q]1477
contig referenceT1477
1027707961465 rs371073877 0.000byClusterbyFreq YessynonymousTCys [C]3476
contig referenceCCys [C]3476
1027707971464 rs374367122 0.000byClusterbyFreq YesmissenseATyr [Y]2476
contig referenceGCys [C]2476
1027707981463 rs1013358116 N.D. missenseCArg [R]1476
contig referenceTCys [C]1476
1027708001461 rs17861009 0.002byClusterbyFreqWith1000GenomeData0.0012 YesmissenseTLeu [L]2475
contig referenceAHis [H]2475
1027708011460 rs777977162 0.000 frame shift-Ile [I]1475
contig referenceCHis [H]1475
1027708011460 rs1434501931 N.D. missenseTTyr [Y]1475
contig referenceCHis [H]1475
1027708051456 rs150990119 0.000byCluster YesnonsenseA3473
contig referenceGTrp [W]3473
1027708061455 rs765774243 0.000 nonsenseA2473
contig referenceGTrp [W]2473
1027708081453 rs374308064 0.000byCluster YesmissenseGArg [R]3472
synonymousTSer [S]3472
contig referenceCSer [S]3472
1027708091452 rs1425615109 N.D. missenseTIle [I]2472
contig referenceGSer [S]2472
1027708151446 rs1409241472 N.D. missenseCThr [T]2470
contig referenceGSer [S]2470
1027708201441 rs759145748 0.000byFreq synonymousGLeu [L]3468
contig referenceALeu [L]3468
1027708231438 rs1032302535 N.D. missenseGMet [M]3467
contig referenceAIle [I]3467
1027708251436 rs1398148190 N.D. missenseGVal [V]1467
contig referenceAIle [I]1467
1027708271434 rs1314216564 N.D. missenseTLeu [L]2466
contig referenceAHis [H]2466
1027708281433 rs766905067 0.000 missenseTTyr [Y]1466
contig referenceCHis [H]1466
1027708291432 rs1449138740 N.D. synonymousTThr [T]3465
contig referenceAThr [T]3465
1027708321429 rs1332267636 N.D. frame shift-His [H]3465
contig referenceGThr [T]3465
1027708341427 rs752424510 0.000byFreq missenseAMet [M]1464
contig referenceGVal [V]1464
1027708341426 rs1370609216 N.D. frame shift-Ile [I]3463
contig referenceGGMet [M]3463
1027708351426 rs755713885 0.000byFreq missenseAIle [I]3463
missenseTIle [I]3463
contig referenceGMet [M]3463
1027708391422 rs1346171974 N.D. missenseTMet [M]2462
contig referenceGArg [R]2462
1027708421419 rs557821833 0.000With1000GenomeData0.0002 missenseTVal [V]2461
contig referenceCAla [A]2461
1027708491412 rs753558591 0.000byFreq missenseTSer [S]1459
contig referenceCPro [P]1459
1027708551406 rs757038329 0.000 missenseGVal [V]1457
contig referenceTPhe [F]1457
1027708561405 rs1198787840 N.D. missenseTAsp [D]3456
contig referenceGGlu [E]3456
1027708611400 rs113672399 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseGVal [V]1455
contig referenceTPhe [F]1455
1027708641397 rs745767902 0.000 nonsenseT1454
contig referenceCGln [Q]1454
1027708701391 rs1039444297 N.D. missenseCPro [P]1452
contig referenceTSer [S]1452
1027708711390 rs772236909 0.000 synonymousGGly [G]3451
contig referenceAGly [G]3451
1027708721389 rs1311746670 N.D. missenseAGlu [E]2451
contig referenceGGly [G]2451
1027708731388 rs987985182 N.D. missenseAArg [R]1451
contig referenceGGly [G]1451
1027708761385 rs199912063 0.000byClusterbyFreq YesmissenseGGly [G]1450
contig referenceASer [S]1450
1027708811380 rs921028721 N.D. missenseATyr [Y]2448
contig referenceTPhe [F]2448
1027708841377 rs1425748737 N.D. missenseGCys [C]2447
contig referenceATyr [Y]2447
1027708891372 rs1327236565 N.D. synonymousCPhe [F]3445
contig referenceTPhe [F]3445
1027708921369 rs1409805363 N.D. synonymousGGly [G]3444
contig referenceAGly [G]3444
1027720131366 rs901024960 N.D. missenseGLeu [L]3443
contig referenceTPhe [F]3443
1027720161363 rs780200414 0.000 synonymousCAla [A]3442
contig referenceAAla [A]3442
1027720221357 rs17860996 0.001byClusterbyFreqWith1000GenomeData0.0028 YesmissenseTPhe [F]3440
contig referenceALeu [L]3440
1027720241355 rs755104482 0.000byFreq missenseGVal [V]1440
contig referenceTLeu [L]1440
1027720251354 rs376050277 0.000byClusterbyFreq YessynonymousGVal [V]3439
contig referenceAVal [V]3439
1027720291350 rs1338156020 N.D. missenseTVal [V]2438
contig referenceCAla [A]2438
1027720311348 rs1349310676 N.D. missenseAGlu [E]3437
contig referenceTAsp [D]3437
1027720321347 rs753788269 N.D. missenseTVal [V]2437
contig referenceAAsp [D]2437
1027720341345 rs567322328 0.000With1000GenomeData0.0002 synonymousGVal [V]3436
contig referenceTVal [V]3436
1027720351344 rs755251426 N.D. missenseCAla [A]2436
contig referenceTVal [V]2436
1027720361343 rs770223728 0.000 missenseTPhe [F]1436
contig referenceGVal [V]1436
1027720411338 rs773398657 0.000 missenseGArg [R]2434
missenseTLeu [L]2434
contig referenceCPro [P]2434
1027720421337 rs1488509702 N.D. missenseGAla [A]1434
missenseTSer [S]1434
contig referenceCPro [P]1434
1027720431336 rs749814051 0.000 synonymousAGlu [E]3433
contig referenceGGlu [E]3433
1027720501329 rs140778053 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGlu [E]2431
contig referenceGGly [G]2431
1027720561323 rs1254045062 N.D. missenseCSer [S]2429
contig referenceTPhe [F]2429
1027720601319 rs1456753613 N.D. missenseTTyr [Y]1428
contig referenceGAsp [D]1428
1027720611318 rs888368580 N.D. missenseGGlu [E]3427
contig referenceTAsp [D]3427
1027720661313 rs774913600 0.000 missenseAThr [T]1426
contig referenceGAla [A]1426
1027720681311 rs781279606 0.000byFreq missenseCThr [T]2425
contig referenceTIle [I]2425
1027720711308 rs1487335788 N.D. missenseAGln [Q]2424
contig referenceTLeu [L]2424
1027720721307 rs763571024 0.000 synonymousTLeu [L]1424
contig referenceCLeu [L]1424
1027720741305 rs776302770 0.000byFreq missenseALys [K]2423
missenseTIle [I]2423
contig referenceGArg [R]2423
1027720831296 rs765104051 0.000 missenseCAla [A]2420
contig referenceGGly [G]2420
1027720901289 rs1369998239 N.D. missenseALys [K]1418
contig referenceGGlu [E]1418
1027720911288 rs368166063 0.000byCluster YesmissenseTIle [I]3417
contig referenceGMet [M]3417
1027720921287 rs1016280535 N.D. missenseCThr [T]2417
contig referenceTMet [M]2417
1027720931286 rs758360466 0.000byFreq missenseGVal [V]1417
contig referenceAMet [M]1417
1027720951284 rs766298525 0.000byCluster missenseGCys [C]2416
missenseTPhe [F]2416
contig referenceCSer [S]2416
1027721071272 rs1397262633 N.D. missenseGGly [G]2412
contig referenceAGlu [E]2412
1027721081271 rs751532451 0.000 missenseALys [K]1412
contig referenceGGlu [E]1412
1027721091270 rs1284448353 N.D. synonymousCAsp [D]3411
contig referenceTAsp [D]3411
1027721111268 rs1240108684 N.D. missenseTTyr [Y]1411
contig referenceGAsp [D]1411
1027728471263 rs766177134 0.000 missenseALys [K]2409
contig referenceGArg [R]2409
1027728581252 rs751590059 0.000byFreq synonymousTAsp [D]3405
contig referenceCAsp [D]3405
1027728601250 rs1233832606 N.D. missenseTTyr [Y]1405
contig referenceGAsp [D]1405
1027728611249 rs558198018 0.000byCluster synonymousAAla [A]3404
contig referenceGAla [A]3404
1027728621248 rs138753435 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTVal [V]2404
contig referenceCAla [A]2404
1027728631247 rs375465947 0.000byClusterWith1000GenomeData0.0002 YesmissenseCPro [P]1404
missenseTSer [S]1404
contig referenceGAla [A]1404
1027728641246 rs756210031 0.000byFreq synonymousCAla [A]3403
synonymousGAla [A]3403
contig referenceAAla [A]3403
1027728651245 rs1285038798 N.D. missenseTVal [V]2403
contig referenceCAla [A]2403
1027728671243 rs143648713 0.002byClusterbyFreqWith1000GenomeData0.0032 YesmissenseGLeu [L]3402
contig referenceTPhe [F]3402
1027728701240 rs1346888140 N.D. synonymousTPhe [F]3401
contig referenceCPhe [F]3401
1027728731237 rs147267769 0.005byClusterbyFreqWith1000GenomeData0.0014 YesnonsenseA3400
nonsenseG3400
synonymousTTyr [Y]3400
contig referenceCTyr [Y]3400
1027728761234 rs779207038 0.000 synonymousCThr [T]3399
synonymousGThr [T]3399
contig referenceAThr [T]3399
1027728781232 rs746199024 0.000byClusterbyFreq frame shift-His [H]1399
contig referenceAThr [T]1399
1027728811229 rs1021200927 N.D. missenseGGlu [E]1398
contig referenceALys [K]1398
1027728821228 rs746398386 0.000 synonymousALys [K]3397
contig referenceGLys [K]3397
1027728881222 rs1423612221 N.D. synonymousGGlu [E]3395
contig referenceAGlu [E]3395
1027728901220 rs1463596902 N.D. missenseALys [K]1395
contig referenceGGlu [E]1395
1027728911219 rs772511075 0.000 synonymousALys [K]3394
contig referenceGLys [K]3394
1027728941216 rs1400398874 N.D. synonymousTAsp [D]3393
contig referenceCAsp [D]3393
1027728961214 rs368858787 0.000byCluster YesmissenseCHis [H]1393
contig referenceGAsp [D]1393
1027729021208 rs998811827 N.D. missenseCLeu [L]1391
contig referenceGVal [V]1391
1027729051205 rs139168339 0.002byClusterbyFreqWith1000GenomeData0.0010 YesmissenseTSer [S]1390
contig referenceGAla [A]1390
1027729081202 rs1369420863 N.D. missenseAThr [T]1389
contig referenceGAla [A]1389
1027729181192 rs537908479 0.000With1000GenomeData0.0002 synonymousAArg [R]3385
contig referenceGArg [R]3385
1027729211189 rs1294753773 N.D. missenseGMet [M]3384
contig referenceAIle [I]3384
1027729221188 rs772793272 0.000 missenseCThr [T]2384
contig referenceTIle [I]2384
1027729231187 rs953819732 N.D. missenseCLeu [L]1384
contig referenceAIle [I]1384
1027729261184 rs372673583 0.000byCluster YesmissenseGAla [A]1383
contig referenceAThr [T]1383
1027729311179 rs377147064 0.000byClusterbyFreq YesmissenseAHis [H]2381
contig referenceCPro [P]2381
1027729321178 rs1318723385 N.D. missenseTSer [S]1381
contig referenceCPro [P]1381
1027729411169 rs774227794 0.000byFreq synonymousTLeu [L]1378
contig referenceCLeu [L]1378
1027729421168 rs1471608596 N.D. synonymousTThr [T]3377
contig referenceCThr [T]3377
1027729431167 rs149436433 0.000byCluster YesmissenseTIle [I]2377
contig referenceCThr [T]2377
1027729471163 rs1425853910 N.D. missenseGAsp [D]1376
contig referenceCHis [H]1376
1027729481162 rs767625727 0.000byFreq synonymousTIle [I]3375
contig referenceCIle [I]3375
1027729491161 rs1166838390 N.D. missenseCThr [T]2375
contig referenceTIle [I]2375
1027729521158 rs752668633 0.000byFreq missenseAAsp [D]2374
contig referenceGGly [G]2374
1027729531157 rs764201572 0.000 missenseASer [S]1374
missenseTCys [C]1374
contig referenceGGly [G]1374
1027729551155 rs754035907 0.000 missenseALys [K]2373
contig referenceGArg [R]2373
1027729601150 rs757454171 0.000byFreq nonsenseA3371
contig referenceTTyr [Y]3371
1027729641146 rs779264298 0.000 missenseAAsp [D]2370
contig referenceGGly [G]2370
1027729651145 rs1188202158 N.D. missenseCArg [R]1370
contig referenceGGly [G]1370
1027729691141 rs867163970 N.D.byCluster frame shift-Gln [Q]3369
contig referenceAAla [A]3369
1027729701140 rs999161529 N.D. missenseCPro [P]2368
contig referenceAGln [Q]2368
1027729711139 rs1276263904 N.D. missenseALys [K]1368
contig referenceCGln [Q]1368
1027729781132 rs750720728 0.000 missenseALys [K]3365
contig referenceTAsn [N]3365
1027729831127 rs758757062 0.000 missenseAArg [R]1364
contig referenceGGly [G]1364
1027729851125 rs1351317815 N.D. missenseCThr [T]2363
contig referenceGArg [R]2363
1027729861124 rs1351632864 N.D. missenseGGly [G]1363
contig referenceAArg [R]1363
1027729871123 rs17359286 0.057byClusterbyFreqWith1000GenomeData0.0112 YessynonymousAIle [I]3362
contig referenceCIle [I]3362
1027729881122 rs1318242803 N.D. missenseCThr [T]2362
contig referenceTIle [I]2362
1027729931117 rs1259398084 N.D. nonsenseA3360
missenseCCys [C]3360
contig referenceGTrp [W]3360
1027729951115 rs747532161 0.000 missenseCArg [R]1360
contig referenceTTrp [W]1360
1027729981112 rs1293123246 N.D. missenseGVal [V]1359
contig referenceTPhe [F]1359
1027729991111 rs769229991 0.000 missenseCAsp [D]3358
contig referenceGGlu [E]3358
1027730021108 rs777300384 0.000 synonymousCAsn [N]3357
contig referenceTAsn [N]3357
1027730031107 rs370615545 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGSer [S]2357
contig referenceAAsn [N]2357
1027730041106 rs1341179037 N.D. missenseGAsp [D]1357
contig referenceAAsn [N]1357
1027751881103 rs1004673186 N.D. missenseCArg [R]1356
contig referenceGGly [G]1356
1027751931098 rs748891646 0.000 missenseCSer [S]2354
contig referenceTPhe [F]2354
1027751961095 rs756810419 0.000 missenseCThr [T]2353
contig referenceTIle [I]2353
1027751981093 rs778756522 0.000 synonymousCPhe [F]3352
contig referenceTPhe [F]3352
1027752021089 rs201248623 0.000byClusterbyFreq YesmissenseCAla [A]2351
missenseGGly [G]2351
contig referenceTVal [V]2351
1027752031088 rs775304558 0.000 missenseAIle [I]1351
missenseTPhe [F]1351
contig referenceGVal [V]1351
1027752041087 rs199784762 0.000byClusterbyFreq YessynonymousTThr [T]3350
contig referenceCThr [T]3350
1027752051086 rs866295224 N.D. missenseTIle [I]2350
contig referenceCThr [T]2350
1027752071084 rs148135915 0.000byClusterbyFreqWith1000GenomeData0.0012 YessynonymousTAsp [D]3349
contig referenceCAsp [D]3349
1027752081083 rs1437804275 N.D. missenseTVal [V]2349
contig referenceAAsp [D]2349
1027752091082 rs1292935744 N.D. missenseCHis [H]1349
contig referenceGAsp [D]1349
1027752101081 rs776428904 0.000byFreq synonymousAArg [R]3348
contig referenceGArg [R]3348
1027752121079 rs1013195196 N.D. missenseGGly [G]1348
contig referenceAArg [R]1348
1027752131078 rs761939283 0.000 synonymousTSer [S]3347
contig referenceCSer [S]3347
1027752141077 rs1159104078 N.D. missenseTIle [I]2347
contig referenceGSer [S]2347
1027752151076 rs1424214529 N.D. missenseGGly [G]1347
contig referenceASer [S]1347
1027752211070 rs546321512 0.000byFreqWith1000GenomeData0.0004 missenseAIle [I]1345
contig referenceGVal [V]1345
1027752221069 rs1291229754 N.D. synonymousGGlu [E]3344
contig referenceAGlu [E]3344
1027752271064 rs1178172483 N.D. missenseCHis [H]1343
contig referenceTTyr [Y]1343
1027752281063 rs41319748 0.000byClusterbyFreq YessynonymousGAla [A]3342
contig referenceAAla [A]3342
1027752301061 rs1375613361 N.D. missenseAThr [T]1342
contig referenceGAla [A]1342
1027752341057 rs772512377 0.000 frame shift-Glu [E]3340
contig referenceTAsp [D]3340
1027752381053 rs1183477644 N.D. missenseCSer [S]2339
contig referenceTLeu [L]2339
1027752431048 rs1330913069 N.D. synonymousGSer [S]3337
contig referenceASer [S]3337
1027752451046 rs763125279 0.000byFreq missenseCPro [P]1337
contig referenceTSer [S]1337
1027752461045 rs766679210 0.000 synonymousGPro [P]3336
contig referenceAPro [P]3336
1027752491042 rs754128124 N.D. synonymousGLeu [L]3335
contig referenceTLeu [L]3335
1027752531038 rs1424445749 N.D. missenseTPhe [F]2334
contig referenceCSer [S]2334
1027752551036 rs751881520 0.000byFreq synonymousAPro [P]3333
synonymousTPro [P]3333
contig referenceCPro [P]3333
1027752571034 rs865906931 N.D.byCluster missenseGAla [A]1333
missenseTSer [S]1333
contig referenceCPro [P]1333
1027752671024 rs369297931 N.D.byCluster YessynonymousCSer [S]3329
contig referenceTSer [S]3329
1027752731018 rs755289955 0.000 missenseTPhe [F]3327
contig referenceGLeu [L]3327
1027752741017 rs1383610220 N.D. missenseCSer [S]2327
contig referenceTLeu [L]2327
1027752781013 rs768123672 0.000 missenseTTyr [Y]1326
contig referenceCHis [H]1326
1027752801011 rs753230683 0.000 missenseGCys [C]2325
contig referenceTPhe [F]2325
1027752811010 rs756867462 0.000 missenseAIle [I]1325
contig referenceTPhe [F]1325
1027752831008 rs759683066 N.D.byCluster missenseTVal [V]2324
contig referenceAGlu [E]2324
1027752861005 rs1363498485 N.D. missenseAHis [H]2323
missenseTLeu [L]2323
contig referenceCPro [P]2323
1027752871004 rs1458770349 N.D. missenseTSer [S]1323
contig referenceCPro [P]1323
102775293998 rs778525609 0.000byFreq missenseGAla [A]1321
missenseTSer [S]1321
contig referenceCPro [P]1321
102775294997 rs1308876689 N.D. missenseGLys [K]3320
contig referenceCAsn [N]3320
102775295996 rs142985644 0.000byClusterbyFreq YesmissenseGSer [S]2320
contig referenceAAsn [N]2320
102775299992 rs1409496666 N.D. missenseGGly [G]1319
contig referenceTTrp [W]1319
102775303988 rs758064955 0.000 synonymousGSer [S]3317
synonymousTSer [S]3317
contig referenceCSer [S]3317
102775304987 rs562842062 0.000byFreqWith1000GenomeData0.0002 missenseTPhe [F]2317
contig referenceCSer [S]2317
102775306985 rs146089838 0.003byClusterbyFreqWith1000GenomeData0.0010 YessynonymousGArg [R]3316
contig referenceAArg [R]3316
102775307984 rs61751515 0.000byClusterbyFreq YesmissenseCThr [T]2316
contig referenceGArg [R]2316
102775310981 rs143542625 0.001byClusterbyFreqWith1000GenomeData0.0010 YesmissenseAGln [Q]2315
contig referenceGArg [R]2315
102775311980 rs150825082 0.000byClusterbyFreqWith1000GenomeData0.0002 YesnonsenseT1315
contig referenceCArg [R]1315
102775321970 rs769897551 0.000 missenseTSer [S]3311
synonymousGArg [R]3311
contig referenceAArg [R]3311
102776281968 rs1227589109 N.D. missenseGGly [G]1311
contig referenceAArg [R]1311
102776282967 rs1283228846 N.D. synonymousTAsp [D]3310
contig referenceCAsp [D]3310
102776283966 rs774670415 0.000 missenseGGly [G]2310
contig referenceAAsp [D]2310
102776284965 rs1229689684 N.D. missenseCHis [H]1310
contig referenceGAsp [D]1310
102776287962 rs759637091 0.000 missenseCGln [Q]1309
contig referenceALys [K]1309
102776294955 rs748754621 N.D. synonymousTLeu [L]3306
contig referenceGLeu [L]3306
102776295954 rs772508348 0.000 missenseCPro [P]2306
contig referenceTLeu [L]2306
102776302947 rs775937217 0.000 missenseALys [K]1304
contig referenceGGlu [E]1304
102776304945 rs769170600 0.000 frame shift-Glu [E]2303
contig referenceGGly [G]2303
102776305944 rs1226568399 N.D. missenseAArg [R]1303
contig referenceGGly [G]1303
102776307942 rs1448800606 N.D. missenseALys [K]2302
missenseCThr [T]2302
contig referenceGArg [R]2302
102776308941 rs980189851 N.D. synonymousCArg [R]1302
contig referenceAArg [R]1302
102776314935 rs1169419505 N.D. missenseGAla [A]1300
contig referenceAThr [T]1300
102776315934 rs1001124672 N.D. missenseGArg [R]3299
contig referenceCSer [S]3299
102776316933 rs1194078142 N.D. missenseAAsn [N]2299
contig referenceGSer [S]2299
102776320929 rs377721971 N.D.byCluster YesmissenseGVal [V]1298
contig referenceAIle [I]1298
102776323926 rs1471901974 N.D. missenseAThr [T]1297
contig referenceGAla [A]1297
102776324925 rs201257125 N.D.With1000GenomeData YessynonymousCAsp [D]3296
contig referenceTAsp [D]3296
102776326923 rs139185475 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAAsn [N]1296
contig referenceGAsp [D]1296
102776327922 rs370246000 0.000byCluster YesmissenseGLeu [L]3295
synonymousTPhe [F]3295
contig referenceCPhe [F]3295
102776333916 rs754385713 0.000 missenseCPhe [F]3293
synonymousALeu [L]3293
contig referenceGLeu [L]3293
102776335914 rs1400727011 N.D. synonymousCLeu [L]1293
contig referenceTLeu [L]1293
102776345904 rs746449943 0.000byFreq synonymousCCys [C]3289
contig referenceTCys [C]3289
102776348901 rs565672771 0.000With1000GenomeData0.0002 missenseCAsn [N]3288
contig referenceGLys [K]3288
102776351898 rs751259563 0.000byFreq synonymousGAla [A]3287
synonymousTAla [A]3287
contig referenceCAla [A]3287
102776352897 rs754542564 0.000byFreq missenseTVal [V]2287
contig referenceCAla [A]2287
102776353896 rs780981697 0.000 missenseAThr [T]1287
contig referenceGAla [A]1287
102776356893 rs1430401128 N.D. missenseTSer [S]1286
contig referenceCPro [P]1286
102776359890 rs368001846 0.000byClusterbyFreq YesmissenseTLeu [L]1285
contig referenceAMet [M]1285
102776360889 rs1315357629 N.D. synonymousAGlu [E]3284
contig referenceGGlu [E]3284
102776363886 rs1352687907 N.D. synonymousCSer [S]3283
contig referenceTSer [S]3283
102776367882 rs17860973 0.002byClusterbyFreqWith1000GenomeData0.0036 YesmissenseAGlu [E]2282
contig referenceGGly [G]2282
102776368881 rs1288072369 N.D. missenseAArg [R]1282
contig referenceGGly [G]1282
102776369880 rs145128689 0.000byClusterbyFreq YessynonymousASer [S]3281
contig referenceGSer [S]3281
102776370879 rs1435227921 N.D. missenseTLeu [L]2281
contig referenceCSer [S]2281
102776371878 rs749145140 0.000byFreq missenseAThr [T]1281
contig referenceTSer [S]1281
102776373876 rs757388859 0.000 missenseAHis [H]2280
contig referenceCPro [P]2280
102776374875 rs778808699 0.000 missenseTSer [S]1280
contig referenceCPro [P]1280
102776385864 rs551669850 0.000byFreqWith1000GenomeData0.0002 missenseGArg [R]2276
contig referenceCThr [T]2276
102776390859 rs142147520 0.000byCluster YessynonymousAVal [V]3274
contig referenceGVal [V]3274
102776394855 rs775851497 0.000 missenseCPro [P]2273
contig referenceTLeu [L]2273
102776395854 rs1157158594 N.D. missenseGVal [V]1273
contig referenceCLeu [L]1273
102776398851 rs1004606148 N.D. missenseAThr [T]1272
missenseGAla [A]1272
missenseTSer [S]1272
contig referenceCPro [P]1272
102776403846 rs1015188354 N.D. missenseTVal [V]2270
contig referenceAGlu [E]2270
102776405844 rs747437746 0.000byFreq synonymousAThr [T]3269
contig referenceTThr [T]3269
102776406843 rs371569952 0.000byCluster YesmissenseAAsn [N]2269
missenseTIle [I]2269
contig referenceCThr [T]2269
102776409840 rs769120052 0.000byFreq missenseTPhe [F]2268
contig referenceCSer [S]2268
102776412837 rs144464068 0.000byClusterbyFreqWith1000GenomeData0.0012 YesmissenseAAsp [D]2267
missenseGGly [G]2267
contig referenceCAla [A]2267
102776415834 rs765940857 0.000byFreq missenseTLeu [L]2266
contig referenceCPro [P]2266
102776418831 rs1336968918 N.D. missenseGArg [R]2265
missenseTLeu [L]2265
contig referenceCPro [P]2265
102776419830 rs866887971 N.D. missenseTSer [S]1265
contig referenceCPro [P]1265
102776419829 rs1375779477 N.D. frame shiftACCTThr [T]3265
contig reference-Pro [P]3265
102776420829 rs773678711 0.000 synonymousCPro [P]3264
contig referenceTPro [P]3264
102776421828 rs1390162638 N.D. missenseGArg [R]2264
contig referenceCPro [P]2264
102776612824 rs376370910 0.000byClusterbyFreq YesmissenseAArg [R]1263
contig referenceGGly [G]1263
102776613823 rs374155678 0.000byClusterbyFreqWith1000GenomeData0.0002 YesnonsenseG3262
synonymousTTyr [Y]3262
contig referenceCTyr [Y]3262
102776614822 rs147796026 0.000 YesmissenseGCys [C]2262
contig referenceATyr [Y]2262
102776616820 rs758591667 0.000 synonymousTLeu [L]3261
contig referenceCLeu [L]3261
102776622814 rs780242353 0.000 missenseCHis [H]3259
missenseTHis [H]3259
contig referenceGGln [Q]3259
102776623813 rs751857119 0.000 missenseCPro [P]2259
contig referenceAGln [Q]2259
102776625811 rs1422239288 N.D. frame shift-Ser [S]3259
contig referenceTGln [Q]3259
102776626810 rs183383744 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGSer [S]2258
contig referenceTIle [I]2258
102776626809 rs1317096197 N.D. frame shiftGGCAArg [R]1258
contig reference-Ile [I]1258
102776628808 rs776087307 N.D. synonymousTGly [G]3257
contig referenceCGly [G]3257
102776629807 rs781624849 0.000byFreq missenseAAsp [D]2257
missenseTVal [V]2257
contig referenceGGly [G]2257
102776634802 rs1299245783 N.D. synonymousAVal [V]3255
contig referenceGVal [V]3255
102776636800 rs748530773 0.000 missenseAMet [M]1255
contig referenceGVal [V]1255
102776637799 rs369185884 0.000byClusterbyFreq YesmissenseAGlu [E]3254
synonymousCAsp [D]3254
contig referenceTAsp [D]3254
102776641795 rs1010329318 N.D. missenseGGly [G]2253
contig referenceAAsp [D]2253
102776642794 rs922179630 N.D. missenseAAsn [N]1253
missenseTTyr [Y]1253
contig referenceGAsp [D]1253
102776646790 rs141241387 0.000byClusterbyFreq YessynonymousASer [S]3251
contig referenceGSer [S]3251
102776647789 rs749752987 0.000byFreq missenseTLeu [L]2251
contig referenceCSer [S]2251
102776648788 rs1048770539 N.D. missenseAThr [T]1251
contig referenceTSer [S]1251
102776651785 rs1423355542 N.D. missenseGVal [V]1250
contig referenceCLeu [L]1250
102776652784 rs771590046 0.000 synonymousAArg [R]3249
contig referenceCArg [R]3249
102776653783 rs760626821 0.000 missenseAHis [H]2249
contig referenceGArg [R]2249
102776654782 rs760322677 0.000byFreq missenseTCys [C]1249
contig referenceCArg [R]1249
102776658778 rs1216936644 N.D. frame shift-His [H]3247
contig referenceGGln [Q]3247
102776660776 rs768363729 0.000 nonsenseT1247
contig referenceCGln [Q]1247
102776662774 rs1297992403 N.D. missenseTVal [V]2246
contig referenceCAla [A]2246
102776663773 rs940458587 N.D. missenseAThr [T]1246
missenseTSer [S]1246
contig referenceGAla [A]1246
102776664772 rs143430465 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTLeu [L]3245
contig referenceCLeu [L]3245
102776665771 rs147985027 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCPro [P]2245
contig referenceTLeu [L]2245
102776666770 rs1490952830 N.D. missenseTPhe [F]1245
contig referenceCLeu [L]1245
102776673763 rs1223841744 N.D. synonymousTPhe [F]3242
contig referenceCPhe [F]3242
102776674762 rs1263168070 N.D. missenseCSer [S]2242
contig referenceTPhe [F]2242
102776677759 rs1487017218 N.D. missenseTLeu [L]2241
contig referenceCSer [S]2241
102776679757 rs1187690668 N.D. synonymousTAsn [N]3240
contig referenceCAsn [N]3240
102776680756 rs765050801 0.000byFreq missenseGSer [S]2240
contig referenceAAsn [N]2240
102776682754 rs750361473 0.000byFreq nonsenseA3239
contig referenceCTyr [Y]3239
102776684752 rs1162294306 N.D. missenseCHis [H]1239
contig referenceTTyr [Y]1239
102776685751 rs1386825822 N.D. synonymousALeu [L]3238
synonymousTLeu [L]3238
contig referenceCLeu [L]3238
102776686750 rs1241902300 N.D. missenseCPro [P]2238
contig referenceTLeu [L]2238
102776692744 rs1018110088 N.D. missenseGCys [C]2236
contig referenceATyr [Y]2236
102776693743 rs762936320 0.000 missenseAAsn [N]1236
contig referenceTTyr [Y]1236
102776695741 rs766582451 0.000 missenseCThr [T]2235
missenseGArg [R]2235
contig referenceTMet [M]2235
102776710726 rs1358620376 N.D. missenseGSer [S]2230
contig referenceAAsn [N]2230
102776711725 rs199916865 0.000byClusterbyFreq YesmissenseGAsp [D]1230
contig referenceAAsn [N]1230
102776713723 rs755108323 0.000 missenseTVal [V]2229
contig referenceCAla [A]2229
102776716720 rs1362778907 N.D. missenseTLeu [L]2228
contig referenceCSer [S]2228
102776718718 rs781331161 0.000byClusterbyFreq synonymousTHis [H]3227
contig referenceCHis [H]3227
102776721715 rs17860971 0.003byClusterbyFreqWith1000GenomeData0.0006 YesmissenseGLeu [L]3226
contig referenceTPhe [F]3226
102776721715 rs1310901002 N.D. frame shift-Thr [T]3227
contig referenceTHis [H]3227
102776723713 rs756461996 0.000byFreq missenseAIle [I]1226
contig referenceTPhe [F]1226
102776724712 rs778148600 0.000byFreq synonymousTLeu [L]3225
contig referenceCLeu [L]3225
102776727709 rs201828295 0.001byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAGly [G]3224
synonymousCGly [G]3224
contig referenceGGly [G]3224
102776733703 rs1218579169 N.D. synonymousGSer [S]3222
contig referenceCSer [S]3222
102776735701 rs377625989 0.000byClusterbyFreq YesmissenseCPro [P]1222
contig referenceTSer [S]1222
102776736700 rs983861985 N.D. synonymousTHis [H]3221
contig referenceCHis [H]3221
102776744692 rs574536028 N.D. missenseAIle [I]1219
contig referenceCLeu [L]1219
102776750686 rs779388826 0.000 missenseTTyr [Y]1217
contig referenceCHis [H]1217
102776752684 rs746580022 0.000 missenseTVal [V]2216
contig referenceCAla [A]2216
102776754682 rs768191066 0.000 synonymousAAla [A]3215
contig referenceTAla [A]3215
102776756678 rs765974846 0.000 -2214
102776757679 rs1157756605 N.D. synonymousCVal [V]3214
contig referenceTVal [V]3214
102776759677 rs776186763 0.000 missenseAIle [I]1214
contig referenceGVal [V]1214
102776760676 rs761488278 0.000 synonymousTLeu [L]3213
contig referenceCLeu [L]3213
102776768668 rs1159786677 N.D. missenseGVal [V]1211
contig referenceTLeu [L]1211
102776769667 rs769499816 0.000 synonymousCAsn [N]3210
contig referenceTAsn [N]3210
102776771665 rs1465652772 N.D. missenseGAsp [D]1210
contig referenceAAsn [N]1210
102776772664 rs1473558237 N.D. frame shift-Ile [I]3210
contig referenceCAsn [N]3210
102776773663 rs1334958035 N.D. missenseAAsn [N]2209
contig referenceCThr [T]2209
102776776660 rs1385347247 N.D. missenseAAsp [D]2208
contig referenceGGly [G]2208
102778624659 rs754036747 0.000 missenseTCys [C]1208
contig referenceGGly [G]1208
102778629654 rs1431499818 N.D. missenseAGlu [E]2206
contig referenceCAla [A]2206
102778632651 rs757659706 0.000byFreq missenseGGly [G]2205
contig referenceAAsp [D]2205
102778637646 rs1455176890 N.D. synonymousGThr [T]3203
contig referenceAThr [T]3203
102778638645 rs150476362 0.000byClusterWith1000GenomeData0.0002 YesmissenseGArg [R]2203
missenseTIle [I]2203
contig referenceCThr [T]2203
102778640643 rs922633690 N.D. nonsenseA3202
contig referenceGTrp [W]3202
102778642640 rs751234440 0.000 frame shiftAMet [M]3202
contig reference-Trp [W]3202
102778642641 rs919308828 N.D. missenseCArg [R]1202
contig referenceTTrp [W]1202
102778646637 rs750952025 0.000byFreq synonymousGGlu [E]3200
contig referenceAGlu [E]3200
102778648635 rs202054159 0.000byCluster YesnonsenseT1200
missenseALys [K]1200
contig referenceGGlu [E]1200
102778649634 rs368114567 0.000byCluster YessynonymousCAsp [D]3199
contig referenceTAsp [D]3199
102778652631 rs747762796 0.000 synonymousCAsp [D]3198
contig referenceTAsp [D]3198
102778653630 rs755570273 0.000byFreq missenseGGly [G]2198
missenseTVal [V]2198
contig referenceAAsp [D]2198
102778655628 rs1305532694 N.D. synonymousCAsp [D]3197
contig referenceTAsp [D]3197
102778656627 rs1350888141 N.D. missenseCAla [A]2197
contig referenceAAsp [D]2197
102778662621 rs1263084849 N.D. missenseGArg [R]2195
contig referenceAHis [H]2195
102778668615 rs371872352 0.000byClusterbyFreq YesmissenseGGly [G]2193
contig referenceAAsp [D]2193
102778671612 rs1217547809 N.D. missenseAGlu [E]2192
contig referenceGGly [G]2192
102778673610 rs1268043953 N.D. synonymousCTyr [Y]3191
contig referenceTTyr [Y]3191
102778679604 rs770867997 0.000 synonymousAGly [G]3189
contig referenceGGly [G]3189
102778680603 rs774227878 0.000 missenseAGlu [E]2189
contig referenceGGly [G]2189
102778682601 rs759266051 0.000 frame shift-Phe [F]3190
contig referenceTLeu [L]3190
102778683600 rs200232227 0.000byCluster YesmissenseGArg [R]2188
contig referenceCPro [P]2188
102778684599 rs200519348 0.000byClusterWith1000GenomeData0.0002 YesmissenseGAla [A]1188
contig referenceCPro [P]1188
102778687596 rs775274521 0.000byFreq missenseAArg [R]1187
contig referenceGGly [G]1187
102778692591 rs760857669 0.000 missenseAGln [Q]2185
contig referenceCPro [P]2185
102778693590 rs764127068 0.000byFreq missenseAThr [T]1185
missenseTSer [S]1185
contig referenceCPro [P]1185
102778696587 rs776870006 0.000byFreq missenseCHis [H]1184
contig referenceTTyr [Y]1184
102778699584 rs761974283 0.000 missenseAThr [T]1183
contig referenceGAla [A]1183
102778704579 rs1168747183 N.D. missenseTVal [V]2181
contig referenceCAla [A]2181
102778705578 rs1036758342 N.D. missenseTSer [S]1181
contig referenceGAla [A]1181
102778706577 rs374394583 0.000byClusterbyFreq YessynonymousALeu [L]3180
contig referenceGLeu [L]3180
102778708575 rs1233661958 N.D. missenseAMet [M]1180
contig referenceTLeu [L]1180
102778714569 rs1490265717 N.D. missenseAAsn [N]1178
contig referenceCHis [H]1178
102778722561 rs915518847 N.D. missenseTVal [V]2175
contig referenceGGly [G]2175
102778725558 rs368619679 0.000byCluster YesmissenseGGly [G]2174
contig referenceAAsp [D]2174
102778726557 rs1166007103 N.D. missenseAAsn [N]1174
missenseCHis [H]1174
contig referenceGAsp [D]1174
102778728555 rs946851115 N.D. missenseGCys [C]2173
contig referenceTPhe [F]2173
102778731552 rs1042574040 N.D. missenseTPhe [F]2172
contig referenceCSer [S]2172
102778733550 rs750733850 0.000 synonymousTTyr [Y]3171
contig referenceCTyr [Y]3171
102778737546 rs372152001 0.000byClusterbyFreq YesmissenseCSer [S]2170
contig referenceTPhe [F]2170
102778740543 rs766970277 0.000byFreq missenseGGly [G]2169
contig referenceAAsp [D]2169
102778746537 rs138352595 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGArg [R]2167
contig referenceAHis [H]2167
102779213533 rs758243907 0.000byFreq nonsenseT1166
missenseCGln [Q]1166
contig referenceGGlu [E]1166
102779216530 rs1422944116 N.D. missenseGGlu [E]1165
contig referenceALys [K]1165
102779220526 rs1470800352 N.D. synonymousGAla [A]3163
contig referenceAAla [A]3163
102779221525 rs947714406 N.D. missenseTVal [V]2163
contig referenceCAla [A]2163
102779222524 rs779664653 0.000 missenseAThr [T]1163
missenseTSer [S]1163
contig referenceGAla [A]1163
102779222524 rs1171423940 N.D. frame shift-Gln [Q]1163
contig referenceGAla [A]1163
102779223523 rs17860950 0.121byClusterbyFreqWith1000GenomeData0.0751 YessynonymousCPhe [F]3162
contig referenceTPhe [F]3162
102779227519 rs768515354 0.000 missenseATyr [Y]2161
missenseGCys [C]2161
contig referenceCSer [S]2161
102779228518 rs374140620 0.000byClusterbyFreq YesmissenseCPro [P]1161
missenseGAla [A]1161
contig referenceTSer [S]1161
102779230516 rs748287170 0.000 missenseCThr [T]2160
contig referenceTIle [I]2160
102779232514 rs1309055450 N.D. missenseTIle [I]3159
contig referenceGMet [M]3159
102779233513 rs199975457 N.D.With1000GenomeData YesmissenseCThr [T]2159
contig referenceTMet [M]2159
102779236510 rs769844777 0.000 missenseCThr [T]2158
contig referenceTIle [I]2158
102779243503 rs1232463477 N.D. missenseAThr [T]1156
missenseCPro [P]1156
contig referenceGAla [A]1156
102779244502 rs1309975636 N.D. missenseTAsp [D]3155
contig referenceGGlu [E]3155
102779246500 rs773527599 0.000byFreq missenseALys [K]1155
contig referenceGGlu [E]1155
102779247499 rs749435144 0.000 synonymousCGly [G]3154
contig referenceAGly [G]3154
102779248498 rs771335701 0.000 missenseAGlu [E]2154
missenseCAla [A]2154
contig referenceGGly [G]2154
102779253493 rs1358829163 N.D. nonsenseG3152
contig referenceTTyr [Y]3152
102779254492 rs377610675 0.000byClusterbyFreq YesmissenseGCys [C]2152
contig referenceATyr [Y]2152
102779256490 rs1268717353 N.D. synonymousCLeu [L]3151
synonymousTLeu [L]3151
contig referenceGLeu [L]3151
102779260486 rs1052378707 N.D. missenseALys [K]2150
contig referenceGArg [R]2150
102779261485 rs369815189 0.000byCluster YesmissenseTTrp [W]1150
contig referenceAArg [R]1150
102779262484 rs1412977455 N.D. synonymousTSer [S]3149
contig referenceCSer [S]3149
102779263483 rs768194389 0.000 missenseATyr [Y]2149
missenseTPhe [F]2149
contig referenceCSer [S]2149
102779265481 rs752575200 0.000 frame shift-Pro [P]3149
contig referenceCSer [S]3149
102779268478 rs138841233 0.001byClusterbyFreqWith1000GenomeData0.0004 YessynonymousGThr [T]3147
synonymousTThr [T]3147
contig referenceAThr [T]3147
102779270476 rs565969140 N.D. missenseCPro [P]1147
contig referenceAThr [T]1147
102779271475 rs375646898 N.D.byCluster YessynonymousTLeu [L]3146
contig referenceCLeu [L]3146
102779272474 rs764612800 0.000 missenseCPro [P]2146
contig referenceTLeu [L]2146
102779273473 rs750113684 0.000 missenseAIle [I]1146
missenseTPhe [F]1146
contig referenceCLeu [L]1146
102779275471 rs1168211358 N.D. missenseTLeu [L]2145
contig referenceCPro [P]2145
102779279467 rs537913459 0.000With1000GenomeData0.0002 missenseTSer [S]1144
contig referenceAThr [T]1144
102779283463 rs766201823 0.000byFreq missenseCAsp [D]3142
missenseTAsp [D]3142
synonymousAGlu [E]3142
contig referenceGGlu [E]3142
102779284462 rs1460157475 N.D. missenseCAla [A]2142
contig referenceAGlu [E]2142
102779285461 rs374020139 0.000byCluster YesnonsenseT1142
contig referenceGGlu [E]1142
102779289457 rs554351137 0.000With1000GenomeData0.0002 missenseCCys [C]3140
contig referenceGTrp [W]3140
102779298448 rs754756873 0.000 synonymousALeu [L]3137
contig referenceGLeu [L]3137
102779304442 rs1277071195 N.D. missenseCAsn [N]3135
contig referenceALys [K]3135
102779305441 rs1386108402 N.D. missenseGArg [R]2135
contig referenceALys [K]2135
102779306440 rs1034153988 N.D. missenseGGlu [E]1135
contig referenceALys [K]1135
102779309437 rs142065601 0.000byClusterbyFreq YesmissenseALys [K]1134
contig referenceGGlu [E]1134
102779311435 rs144660356 0.001byClusterbyFreq YesmissenseCThr [T]2133
contig referenceTIle [I]2133
102779312434 rs568173748 0.000With1000GenomeData0.0002 missenseGVal [V]1133
contig referenceAIle [I]1133
102779314432 rs777652636 0.000byFreq missenseAAsp [D]2132
contig referenceCAla [A]2132
102779315431 rs749526694 0.000byFreq missenseAThr [T]1132
contig referenceGAla [A]1132
102779316430 rs771122580 0.000 synonymousCSer [S]3131
contig referenceTSer [S]3131
102779317429 rs1007007710 N.D. missenseTPhe [F]2131
contig referenceCSer [S]2131
102779318428 rs756134602 0.000 frame shift-Leu [L]1131
contig referenceTSer [S]1131
102779321424 rs770071084 0.001byClusterbyFreq frame shiftAArg [R]3130
contig reference-Asp [D]3130
102779324422 rs201319536 0.000byClusterbyFreq YesmissenseAIle [I]1129
missenseTPhe [F]1129
contig referenceGVal [V]1129
102779325421 rs368271223 0.000byClusterbyFreq YessynonymousCAla [A]3128
contig referenceTAla [A]3128
102779328417 rs1256738135 N.D. frame shift-Gly [G]2127
contig referenceATAsp [D]2127
102779329417 rs202049265 N.D.byClusterWith1000GenomeData YesmissenseCAla [A]2127
contig referenceAAsp [D]2127
102779330416 rs1444700132 N.D. missenseAAsn [N]1127
contig referenceGAsp [D]1127
102779331415 rs776172086 0.000 synonymousGArg [R]3126
contig referenceAArg [R]3126
102779332414 rs760730410 N.D. missenseALys [K]2126
contig referenceGArg [R]2126
102779335411 rs1231623931 N.D. missenseTLeu [L]2125
contig referenceCPro [P]2125
102779337409 rs761215072 0.000 missenseTPhe [F]3124
synonymousALeu [L]3124
contig referenceGLeu [L]3124
102779342404 rs764817272 0.000byFreq missenseAAsn [N]1123
contig referenceGAsp [D]1123
102779343403 rs772531661 0.000 synonymousGPro [P]3122
contig referenceAPro [P]3122
102779347399 rs973367044 N.D. missenseTIle [I]2121
contig referenceCThr [T]2121
102779354392 rs762521767 0.000byFreq missenseGAsp [D]1119
contig referenceAAsn [N]1119
102779360386 rs766007749 0.000 missenseTPhe [F]1117
contig referenceAIle [I]1117
102779504384 rs779085625 0.000 missenseALys [K]2116
contig referenceGArg [R]2116
102779506382 rs750687525 0.000 synonymousTTyr [Y]3115
contig referenceCTyr [Y]3115
102779508380 rs758626767 0.000 missenseAAsn [N]1115
missenseCHis [H]1115
contig referenceTTyr [Y]1115
102779510378 rs1460636886 N.D. missenseTIle [I]2114
contig referenceCThr [T]2114
102779512376 rs1159431588 N.D. synonymousALeu [L]3113
contig referenceTLeu [L]3113
102779515373 rs17860949 0.206byClusterbyFreqWith1000GenomeData0.1194 YessynonymousTHis [H]3112
contig referenceCHis [H]3112
102779519369 rs1244780100 N.D. missenseTIle [I]2111
contig referenceCThr [T]2111
102779525363 rs747392263 0.000 missenseALys [K]2109
contig referenceGArg [R]2109
102779530358 rs769045220 0.000 missenseTAsn [N]3107
contig referenceGLys [K]3107
102779531357 rs1050243631 N.D. missenseGArg [R]2107
contig referenceALys [K]2107
102779533355 rs190380615 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAPro [P]3106
synonymousCPro [P]3106
contig referenceGPro [P]3106
102779534354 rs181247657 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTLeu [L]2106
contig referenceCPro [P]2106
102779537351 rs147639719 0.001byClusterbyFreqWith1000GenomeData0.0016 YesmissenseALys [K]2105
missenseCThr [T]2105
missenseGArg [R]2105
contig referenceTMet [M]2105
102779539349 rs1055678409 N.D. synonymousTGly [G]3104
contig referenceCGly [G]3104
102779540348 rs1017033972 N.D. missenseAAsp [D]2104
contig referenceGGly [G]2104
102779548340 rs1227144619 N.D. synonymousASer [S]3101
contig referenceCSer [S]3101
102779551337 rs1469515975 N.D. synonymousTSer [S]3100
contig referenceCSer [S]3100
102779554334 rs1261529319 N.D. synonymousTPhe [F]399
contig referenceCPhe [F]399
102779557331 rs150588971 0.000byCluster YesmissenseGGln [Q]398
contig referenceCHis [H]398
102779558330 rs200687439 0.000byCluster YesmissenseTLeu [L]298
contig referenceAHis [H]298
102779564324 rs369076335 0.000byClusterbyFreq YesmissenseCAla [A]296
contig referenceTVal [V]296
102779565323 rs760424472 0.000 missenseAIle [I]196
contig referenceGVal [V]196
102779566322 rs140654514 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTAsp [D]395
contig referenceCAsp [D]395
102779567321 rs1043798184 N.D. missenseCAla [A]295
contig referenceAAsp [D]295
102779568320 rs144369862 0.000byClusterbyFreq YesmissenseAAsn [N]195
contig referenceGAsp [D]195
102779571317 rs761751864 0.000 missenseTSer [S]194
contig referenceCPro [P]194
102779574314 rs765412485 0.000 missenseAIle [I]193
contig referenceGVal [V]193
102779575313 rs1221328920 N.D. synonymousGGly [G]392
contig referenceAGly [G]392
102779578310 rs375572358 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousCCys [C]391
contig referenceTCys [C]391
102779580308 rs1461607323 N.D. missenseASer [S]191
contig referenceTCys [C]191
102779581307 rs758539801 0.000 missenseCSer [S]390
contig referenceGArg [R]390
102779585303 rs1366729229 N.D. missenseTLeu [L]289
contig referenceCPro [P]289
102779587301 rs1230948608 N.D. synonymousALys [K]388
contig referenceGLys [K]388
102779589299 rs1481603384 N.D. missenseGGlu [E]188
contig referenceALys [K]188
102779590298 rs1289070736 N.D. synonymousGArg [R]387
contig referenceCArg [R]387
102779591297 rs780475167 0.000byFreq missenseAHis [H]287
contig referenceGArg [R]287
102779592296 rs1358268157 N.D. missenseASer [S]187
contig referenceCArg [R]187
102779601287 rs1189998081 N.D. nonsenseT184
contig referenceGGlu [E]184
102779603284 rs1248247807 N.D. frame shift-Gly [G]183
contig referenceCTLeu [L]183
102779605283 rs147825425 0.000byClusterbyFreq YessynonymousAThr [T]382
contig referenceTThr [T]382
102779606282 rs755332578 0.000 missenseTIle [I]282
contig referenceCThr [T]282
102779611277 rs1174556362 N.D. synonymousAThr [T]380
contig referenceTThr [T]380
102779614274 rs1434852184 N.D. missenseAGlu [E]379
contig referenceCAsp [D]379
102779616272 rs781575381 0.000 missenseAAsn [N]179
contig referenceGAsp [D]179
102779618270 rs1013833030 N.D. missenseCPro [P]278
contig referenceTLeu [L]278
102779624264 rs1328664790 N.D. missenseAGlu [E]276
contig referenceGGly [G]276
102779626262 rs1353090563 N.D. synonymousGThr [T]375
contig referenceAThr [T]375
102779628260 rs1445033545 N.D. missenseGAla [A]175
missenseTSer [S]175
contig referenceAThr [T]175
102779631257 rs201191140 0.000byClusterbyFreq YesmissenseAMet [M]174
contig referenceGVal [V]174
102779631255 rs779230751 0.000 -273
102779633255 rs756676904 0.000 missenseTVal [V]273
contig referenceAGlu [E]273
102779635253 rs142309975 0.000byClusterWith1000GenomeData0.0002 YessynonymousALeu [L]372
contig referenceGLeu [L]372
102779638250 rs745426299 0.000byFreq synonymousTGly [G]371
contig referenceGGly [G]371
102779638250 rs969610338 N.D. frame shift-Trp [W]372
contig referenceGLeu [L]372
102779639249 rs370170526 0.000byCluster YesmissenseAGlu [E]271
contig referenceGGly [G]271
102779643245 rs925072816 N.D. missenseTPhe [F]170
contig referenceCLeu [L]170
102779647241 rs1031014209 N.D. synonymousALys [K]368
contig referenceGLys [K]368
102779652236 rs1211654348 N.D. nonsenseT167
contig referenceCGln [Q]167
102779656232 rs955400587 N.D. synonymousCGly [G]365
contig referenceAGly [G]365
102779658230 rs17293607 0.204byClusterbyFreqWith1000GenomeData0.0655 YesmissenseAArg [R]165
contig referenceGGly [G]165
102779659229 rs775030472 0.000byFreq missenseTHis [H]364
synonymousGGln [Q]364
contig referenceAGln [Q]364
102779663224 rs746110396 0.000byFreq frame shiftAAsn [N]163
contig reference-Ile [I]163
102779670218 rs768340896 0.000 nonsenseT161
contig referenceALys [K]161
102779671217 rs377224881 0.000byClusterbyFreq YessynonymousCVal [V]360
contig referenceTVal [V]360
102779672216 rs761499100 0.000byFreq missenseCAla [A]260
contig referenceTVal [V]260
102779673215 rs922965767 N.D. missenseAIle [I]160
contig referenceGVal [V]160
102779674214 rs1271117602 N.D. missenseGMet [M]359
contig referenceTIle [I]359
102779675213 rs1018568969 N.D. missenseCThr [T]259
contig referenceTIle [I]259
102779678210 rs1478504636 N.D. missenseAHis [H]258
contig referenceTLeu [L]258
102779686202 rs1385766915 N.D. missenseAGlu [E]355
synonymousTAsp [D]355
contig referenceCAsp [D]355
102779687201 rs1381806338 N.D. missenseGGly [G]255
contig referenceAAsp [D]255
102779688200 rs964227800 N.D. missenseAAsn [N]155
contig referenceGAsp [D]155
102779690198 rs765331434 0.000 missenseGArg [R]254
contig referenceALys [K]254
102779693195 rs486055 0.189byClusterbyFreqWith1000GenomeData0.0453 YesmissenseALys [K]253
missenseALys [K]253
missenseCThr [T]253
missenseCThr [T]253
contig referenceGArg [R]253
contig referenceGArg [R]253
102779695193 rs1297241683 N.D. synonymousGArg [R]352
contig referenceAArg [R]352
102779698190 rs201260782 0.000byClusterWith1000GenomeData0.0002 YesmissenseGLeu [L]351
contig referenceTPhe [F]351
102779703185 rs1169789602 N.D. missenseGGlu [E]150
contig referenceCGln [Q]150
102779706182 rs751757387 0.000 missenseGGlu [E]149
contig referenceALys [K]149
102779707181 rs755157910 0.000 synonymousAVal [V]348
contig referenceGVal [V]348
102779708180 rs919658351 N.D. missenseAGlu [E]248
contig referenceTVal [V]248
102779709179 rs1331148224 N.D. missenseAMet [M]148
contig referenceGVal [V]148
102779712176 rs767782241 0.000byFreq missenseAAsn [N]147
missenseCHis [H]147
missenseTTyr [Y]147
contig referenceGAsp [D]147
102779713175 rs1267992357 N.D. missenseTAsn [N]346
contig referenceGLys [K]346
102779715173 rs756442264 0.000 missenseCGln [Q]146
contig referenceALys [K]146
102779717171 rs778432507 N.D. missenseGGly [G]245
contig referenceAGlu [E]245
102779718170 rs751866359 0.000 missenseALys [K]145
contig referenceGGlu [E]145
102779719169 rs749748906 0.000 synonymousGLeu [L]344
synonymousTLeu [L]344
contig referenceCLeu [L]344
102779722166 rs757935934 0.000byFreq synonymousTAsn [N]343
contig referenceCAsn [N]343
102779726162 rs146174390 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGCys [C]242
contig referenceATyr [Y]242
102779729158 rs1224592138 N.D. GGG [WD]141
102779730158 rs746656204 0.000 missenseAAsn [N]141
contig referenceTTyr [Y]141
102779731156 rs1452204929 N.D. (33bp) [cds-indel]240
102779736152 rs768413622 0.000 missenseALys [K]139
missenseCGln [Q]139
contig referenceGGlu [E]139
102779739149 rs200258046 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTLeu [L]138
contig referenceCLeu [L]138
102779743145 rs375362001 0.000byCluster YesmissenseCHis [H]336
contig referenceAGln [Q]336
102780487142 rs775723176 0.000 synonymousAGln [Q]335
contig referenceGGln [Q]335
102780488141 rs1236765041 N.D. missenseCPro [P]235
contig referenceAGln [Q]235
102780489140 rs760821530 0.000 missenseGGlu [E]135
contig referenceCGln [Q]135
102780491138 rs764457929 0.000 missenseTVal [V]234
contig referenceCAla [A]234
102780499130 rs754259716 0.000 synonymousALys [K]331
contig referenceGLys [K]331
102780500129 rs762160832 0.000 missenseGArg [R]231
contig referenceALys [K]231
102780500127 rs1267443272 N.D. -330
102780503126 rs375202970 0.000byClusterbyFreq YesmissenseGSer [S]230
contig referenceAAsn [N]230
102780507122 rs987316300 N.D. missenseCPro [P]129
contig referenceTSer [S]129
102780508121 rs368118730 0.000byCluster YesmissenseAGlu [E]328
contig referenceCAsp [D]328
102780510119 rs1286781110 N.D. missenseTTyr [Y]128
contig referenceGAsp [D]128
102780514115 rs371965135 0.000byCluster YessynonymousAGlu [E]326
contig referenceGGlu [E]326
102780522107 rs780525105 0.000 missenseTSer [S]124
contig referenceGAla [A]124
102780526103 rs1242438252 N.D. synonymousAGly [G]322
contig referenceGGly [G]322
102780528101 rs752399067 0.000byFreq missenseAArg [R]122
missenseCArg [R]122
contig referenceGGly [G]122
10278053297 rs1307048885 N.D. synonymousCLeu [L]320
contig referenceGLeu [L]320
10278053693 rs376598135 0.000byClusterbyFreq YesmissenseGArg [R]219
contig referenceCPro [P]219
10278053990 rs749139369 0.000byFreq missenseGCys [C]218
contig referenceATyr [Y]218
10278054287 rs770613615 0.000 missenseTVal [V]217
contig referenceCAla [A]217
10278054584 rs1295082261 N.D. missenseTPhe [F]216
contig referenceCSer [S]216
10278055079 rs201701748 0.000byClusterWith1000GenomeData0.0002 synonymousGVal [V]314
contig referenceCVal [V]314
10278055178 rs1433769302 N.D. missenseCAla [A]214
contig referenceTVal [V]214
10278055772 rs1472600918 N.D. missenseCPro [P]212
contig referenceTLeu [L]212
10278055871 rs778935538 N.D. synonymousTLeu [L]112
contig referenceCLeu [L]112
10278055969 rs535864157 0.001byClusterbyFreqWith1000GenomeData0.0008 frame shift-Ser [S]211
contig referenceGTCys [C]211
10278056069 rs745755405 0.000byFreq missenseATyr [Y]211
missenseCSer [S]211
contig referenceGCys [C]211
10278056267 rs775492000 0.000byFreq synonymousALeu [L]310
contig referenceGLeu [L]310
10278056564 rs1470744618 N.D. synonymousALeu [L]39
contig referenceGLeu [L]39
10278056663 rs1172993625 N.D. missenseAGln [Q]29
missenseGArg [R]29
contig referenceTLeu [L]29
10278056762 rs1189874302 N.D. missenseGVal [V]19
contig referenceCLeu [L]19
10278056960 rs12807719 0.000 missenseCAla [A]28
contig referenceTVal [V]28
10278057158 rs1389635676 N.D. synonymousCLeu [L]37
contig referenceTLeu [L]37
10278057356 rs944108168 N.D. missenseAIle [I]17
contig referenceCLeu [L]17
10278057752 rs768934214 0.000 synonymousTAla [A]35
contig referenceAAla [A]35
10278058247 rs17435959 0.097byClusterbyFreqWith1000GenomeData0.0835 missenseGVal [V]14
missenseGVal [V]14
missenseGVal [V]14