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dbSNP

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SNP linked to Gene (geneID:4653) 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_000261.1minus strandNP_000252.1reverseNT_004487.20GRCh38.p7<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_004487.20NM_000261.1NP_000252.1reverseminus strand494, 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
1716359291533 rs1250923800 N.D. missenseCThr [T]2504
contig referenceTMet [M]2504
1716359331529 rs756630885 0.000 missenseGGlu [E]1503
contig referenceALys [K]1503
1716359411521 rs145977437 0.001byClusterbyFreqWith1000GenomeData0.0010 missenseCThr [T]2500
missenseGArg [R]2500
contig referenceALys [K]2500
1716359461516 rs757893552 0.000 synonymousTAsp [D]3498
contig referenceCAsp [D]3498
1716359501511 rs1329133890 N.D. frame shiftTLeu [L]1497
contig reference-Tyr [Y]1497
1716359541508 rs1239668610 N.D. missenseTSer [S]1496
contig referenceAThr [T]1496
1716359591503 rs1468931184 N.D. missenseALys [K]2494
contig referenceTMet [M]2494
1716359611501 rs1014299875 N.D. synonymousTAsn [N]3493
contig referenceCAsn [N]3493
1716359681494 rs777445056 0.000 missenseGSer [S]2491
contig referenceAAsn [N]2491
1716359711491 rs1024809888 N.D. missenseTVal [V]2490
contig referenceAAsp [D]2490
1716359761486 rs2234929 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousGAla [A]3488
synonymousTAla [A]3488
contig referenceCAla [A]3488
1716359771485 rs776513776 0.000byFreq missenseTVal [V]2488
contig referenceCAla [A]2488
1716359781483 rs776269268 0.000byCluster frame shiftTCys [C]3488
contig reference-Ala [A]3488
1716359821480 rs745712367 0.000 synonymousALeu [L]3486
contig referenceCLeu [L]3486
1716359851477 rs769767738 0.000byCluster missenseTAsn [N]3485
synonymousALys [K]3485
contig referenceGLys [K]3485
1716359881474 rs1378048690 N.D. synonymousALys [K]3484
contig referenceGLys [K]3484
1716359901472 rs376735175 0.000byCluster missenseCGln [Q]1484
contig referenceALys [K]1484
1716359991463 rs763068244 0.000 missenseTSer [S]1481
contig referenceCPro [P]1481
1716360131449 rs760260934 N.D. missenseGArg [R]2476
contig referenceTMet [M]2476
1716360141448 rs764112994 0.000 missenseTLeu [L]1476
contig referenceAMet [M]1476
1716360171445 rs1375215503 N.D. missenseGGly [G]1475
contig referenceASer [S]1475
1716360211441 rs774417217 N.D. synonymousTTyr [Y]3473
contig referenceCTyr [Y]3473
1716360221437 rs747543321 0.000 frame shift-Thr [T]2472
contig referenceAGTALys [K]2472
1716360271435 rs761963923 0.000 synonymousCTyr [Y]3471
contig referenceTTyr [Y]3471
1716360281434 rs554235897 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGCys [C]2471
contig referenceATyr [Y]2471
1716360311431 rs750791099 0.000 missenseAHis [H]2470
missenseTLeu [L]2470
contig referenceGArg [R]2470
1716360321430 rs771122834 N.D. missenseTCys [C]1470
contig referenceCArg [R]1470
1716360341428 rs756472086 0.000byFreq missenseGSer [S]2469
contig referenceAAsn [N]2469
1716360361426 rs766884379 0.000 synonymousALys [K]3468
contig referenceGLys [K]3468
1716360441418 rs1233844388 N.D. missenseTSer [S]1466
contig referenceCPro [P]1466
1716360451417 rs1400370105 N.D. synonymousTIle [I]3465
contig referenceCIle [I]3465
1716360491413 rs1439485874 N.D. missenseTIle [I]2464
contig referenceCThr [T]2464
1716360521409 rs769863509 0.000 frame shiftCPro [P]1463
contig reference-Leu [L]1463
1716360571405 rs754248248 0.000 synonymousALys [K]3461
contig referenceGLys [K]3461
1716360671395 rs868311329 N.D. missenseTVal [V]2458
contig referenceGGly [G]2458
1716360681394 rs1394030997 N.D. missenseTCys [C]1458
contig referenceGGly [G]1458
1716360691393 rs145447699 0.000byCluster synonymousTThr [T]3457
contig referenceAThr [T]3457
1716360701392 rs1431648915 N.D. missenseTIle [I]2457
contig referenceCThr [T]2457
1716360731389 rs1454443086 N.D. missenseAAsp [D]2456
missenseTVal [V]2456
contig referenceGGly [G]2456
1716360741388 rs1173878054 N.D. missenseCArg [R]1456
contig referenceGGly [G]1456
1716360751387 rs755575564 0.000 synonymousCThr [T]3455
synonymousGThr [T]3455
contig referenceAThr [T]3455
1716360831379 rs576458696 0.000byClusterbyFreqWith1000GenomeData0.0006 frame shift-Met [M]1453
contig referenceTTyr [Y]1453
1716360861376 rs1329411391 N.D. missenseCPro [P]1452
contig referenceGAla [A]1452
1716360911371 rs1356088463 N.D. missenseGSer [S]2450
contig referenceAAsn [N]2450
1716360951367 rs572512491 0.000byFreqWith1000GenomeData0.0002 missenseAIle [I]1449
contig referenceGVal [V]1449
1716360961366 rs746534441 0.000 synonymousTThr [T]3448
contig referenceCThr [T]3448
1716360981364 rs1239082043 N.D. missenseGAla [A]1448
contig referenceAThr [T]1448
1716361001362 rs756961599 0.000byFreq missenseTVal [V]2447
contig referenceCAla [A]2447
1716361041358 rs142680834 0.000byClusterbyFreq missenseCHis [H]1446
missenseTTyr [Y]1446
contig referenceGAsp [D]1446
1716361061356 rs140967767 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTVal [V]2445
contig referenceCAla [A]2445
1716361121350 rs775380030 0.000 missenseTIle [I]2443
contig referenceCThr [T]2443
1716361141348 rs1214518549 N.D. synonymousTTyr [Y]3442
contig referenceCTyr [Y]3442
1716361231339 rs2234928 0.001byClusterbyFreq synonymousTVal [V]3439
contig referenceCVal [V]3439
1716361251337 rs371891266 0.000byClusterbyFreq missenseAIle [I]1439
contig referenceGVal [V]1439
1716361261336 rs375235405 0.000byClusterbyFreq synonymousTThr [T]3438
contig referenceCThr [T]3438
1716361281334 rs761947583 0.000byFreq missenseCPro [P]1438
contig referenceAThr [T]1438
1716361381324 rs772246395 0.000 synonymousTGly [G]3434
contig referenceCGly [G]3434
1716361391323 rs1367941231 N.D. missenseCAla [A]2434
contig referenceGGly [G]2434
1716361401322 rs1200513428 N.D. missenseASer [S]1434
contig referenceGGly [G]1434
1716361441318 rs773351548 0.000 synonymousTIle [I]3432
contig referenceCIle [I]3432
1716361501312 rs555328498 0.000byFreqWith1000GenomeData0.0004 synonymousTPhe [F]3430
contig referenceCPhe [F]3430
1716361511311 rs1168442640 N.D. missenseCSer [S]2430
contig referenceTPhe [F]2430
1716361531309 rs766610033 0.000byFreq synonymousGAla [A]3429
contig referenceCAla [A]3429
1716361551307 rs1157389554 N.D. missenseAThr [T]1429
contig referenceGAla [A]1429
1716361561306 rs1050657565 N.D. synonymousCAsn [N]3428
contig referenceTAsn [N]3428
1716361611301 rs754237376 0.000byFreq missenseAThr [T]1427
contig referenceGAla [A]1427
1716361621300 rs1183498744 N.D. synonymousTVal [V]3426
contig referenceCVal [V]3426
1716361661296 rs1164030447 N.D. nonsenseA2425
contig referenceCSer [S]2425
1716361681294 rs760065904 0.000 missenseCHis [H]3424
contig referenceGGln [Q]3424
1716361691293 rs888606739 N.D. missenseCPro [P]2424
contig referenceAGln [Q]2424
1716361751287 rs201573718 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAHis [H]2422
contig referenceGArg [R]2422
1716361761286 rs751113505 0.000byFreq missenseTCys [C]1422
contig referenceCArg [R]1422
1716361771285 rs1324772961 N.D. synonymousTIle [I]3421
contig referenceCIle [I]3421
1716361791283 rs1343888715 N.D. missenseGVal [V]1421
missenseTPhe [F]1421
contig referenceAIle [I]1421
1716361801282 rs1228466688 N.D. synonymousTAsn [N]3420
contig referenceCAsn [N]3420
1716361821280 rs150438494 0.000byClusterbyFreq missenseTTyr [Y]1420
contig referenceAAsn [N]1420
1716361851277 rs1270841723 N.D. missenseGAla [A]1419
contig referenceAThr [T]1419
1716361881274 rs780876895 0.000 missenseALys [K]1418
contig referenceGGlu [E]1418
1716361891273 rs139804296 0.000byClusterbyFreqWith1000GenomeData0.0002 nonsenseA3417
contig referenceGTrp [W]3417
1716361901272 rs755824609 0.000byFreq missenseTLeu [L]2417
contig referenceGTrp [W]2417
1716361931269 rs779654151 0.000 missenseAAsn [N]2416
contig referenceCThr [T]2416
1716361971265 rs1283752683 N.D. nonsenseT1415
contig referenceCGln [Q]1415
1716361981264 rs1215830130 N.D. synonymousGGlu [E]3414
contig referenceAGlu [E]3414
1716362001262 rs1351097164 N.D. missenseALys [K]1414
contig referenceGGlu [E]1414
1716362011261 rs749164354 0.000byFreq synonymousTLeu [L]3413
contig referenceCLeu [L]3413
1716362031259 rs768574920 0.000byFreq missenseGVal [V]1413
missenseTPhe [F]1413
contig referenceCLeu [L]1413
1716362061256 rs1445925526 N.D. frame shift-Asn [N]1412
contig referenceGGlu [E]1412
1716362131249 rs536180276 N.D. synonymousAGlu [E]3409
contig referenceGGlu [E]3409
1716362291233 rs1056051290 N.D. missenseATyr [Y]2404
contig referenceCSer [S]2404
1716362311231 rs748201066 0.000 synonymousTLeu [L]3403
contig referenceCLeu [L]3403
1716362321230 rs1482024411 N.D. missenseCPro [P]2403
contig referenceTLeu [L]2403
1716362341228 rs772087054 0.000 synonymousGVal [V]3402
contig referenceCVal [V]3402
1716362381224 rs1474206328 N.D. missenseCThr [T]2401
contig referenceTIle [I]2401
1716362391223 rs1187084570 N.D. missenseCLeu [L]1401
contig referenceAIle [I]1401
1716362411221 rs1329624632 N.D. missenseAAsp [D]2400
contig referenceCAla [A]2400
1716362471215 rs56314834 0.006byClusterbyFreqWith1000GenomeData0.0020 missenseGArg [R]2398
contig referenceALys [K]2398
1716362501212 rs771200816 0.000byFreq missenseAAsp [D]2397
missenseTVal [V]2397
contig referenceCAla [A]2397
1716362521210 rs61730975 0.005byClusterbyFreqWith1000GenomeData0.0094 synonymousAGlu [E]3396
contig referenceGGlu [E]3396
1716362551207 rs765809047 0.000byFreq missenseGGlu [E]3395
synonymousCAsp [D]3395
contig referenceTAsp [D]3395
1716362571205 rs369157032 0.000byClusterbyFreq missenseAAsn [N]1395
contig referenceGAsp [D]1395
1716362581204 rs763577837 0.000byFreq synonymousTThr [T]3394
contig referenceCThr [T]3394
1716362611201 rs998968146 N.D. missenseGArg [R]3393
contig referenceCSer [S]3393
1716362641198 rs766899237 0.000 synonymousTTyr [Y]3392
contig referenceCTyr [Y]3392
1716362801182 rs749960559 0.000byFreq missenseAAsp [D]2387
contig referenceGGly [G]2387
1716362871175 rs1033533679 N.D. missenseALys [K]1385
contig referenceGGlu [E]1385
1716362981164 rs755706856 0.000 missenseCSer [S]2381
contig referenceTLeu [L]2381
1716363091153 rs140112372 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAThr [T]3377
synonymousCThr [T]3377
contig referenceGThr [T]3377
1716363101152 rs566289099 0.000byClusterbyFreq missenseTMet [M]2377
contig referenceCThr [T]2377
1716363111151 rs1349583775 N.D. missenseGAla [A]1377
contig referenceAThr [T]1377
1716363121150 rs150755204 0.000byCluster synonymousTTyr [Y]3376
contig referenceCTyr [Y]3376
1716363181144 rs778699435 0.000 synonymousGGly [G]3374
contig referenceTGly [G]3374
1716363211141 rs989306028 N.D. nonsenseA3373
contig referenceGTrp [W]3373
1716363301132 rs149881467 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAPro [P]3370
contig referenceGPro [P]3370
1716363321130 rs1003013455 N.D. missenseGAla [A]1370
missenseTSer [S]1370
contig referenceCPro [P]1370
1716363421120 rs144386835 0.000byClusterbyFreqWith1000GenomeData0.0006 synonymousTHis [H]3366
contig referenceCHis [H]3366
1716363431119 rs747174989 0.000 missenseGArg [R]2366
contig referenceAHis [H]2366
1716363501112 rs771057339 0.000 missenseASer [S]1364
contig referenceGGly [G]1364
1716363571105 rs1362986798 N.D. synonymousCPro [P]3361
contig referenceTPro [P]3361
1716363581104 rs1198457923 N.D. missenseTLeu [L]2361
contig referenceCPro [P]2361
1716363591103 rs1344039930 N.D. missenseTSer [S]1361
contig referenceCPro [P]1361
1716363621100 rs963929660 N.D. missenseCLeu [L]1360
contig referenceAIle [I]1360
1716363681094 rs776956998 0.000byFreq nonsenseT1358
missenseGGlu [E]1358
contig referenceALys [K]1358
1716363691093 rs866938399 N.D. synonymousAGlu [E]3357
contig referenceGGlu [E]3357
1716363711091 rs770236294 0.000 missenseALys [K]1357
contig referenceGGlu [E]1357
1716363751087 rs776030983 0.000 synonymousALys [K]3355
contig referenceGLys [K]3355
1716363811081 rs1325717453 N.D. synonymousGThr [T]3353
contig referenceAThr [T]3353
1716363861076 rs61745146 0.002byClusterbyFreqWith1000GenomeData0.0034 missenseALys [K]1352
missenseCGln [Q]1352
contig referenceGGlu [E]1352
1716363871075 rs202003673 0.001byClusterbyFreqWith1000GenomeData0.0008 synonymousTThr [T]3351
contig referenceCThr [T]3351
1716363881074 rs760271913 0.000byFreq missenseAAsn [N]2351
contig referenceCThr [T]2351
1716363891073 rs765926032 0.000 missenseGAla [A]1351
contig referenceAThr [T]1351
1716363901072 rs1394606565 N.D. synonymousCAsn [N]3350
contig referenceTAsn [N]3350
1716364061056 rs1335500346 N.D. missenseCThr [T]2345
contig referenceTIle [I]2345
1716364121050 rs1470777036 N.D. missenseTIle [I]2343
contig referenceCThr [T]2343
1716364161046 rs764942545 0.000byFreq missenseGGly [G]1342
contig referenceAArg [R]1342
1716364201042 rs534806873 0.000byFreqWith1000GenomeData0.0002 synonymousAGlu [E]3340
contig referenceGGlu [E]3340
1716364251037 rs758257704 0.000byFreq missenseAThr [T]1339
missenseTSer [S]1339
contig referenceGAla [A]1339
1716364261036 rs750946621 0.000byClusterbyFreq synonymousTGly [G]3338
contig referenceCGly [G]3338
1716364291033 rs1280400300 N.D. missenseTHis [H]3337
contig referenceGGln [Q]3337
1716364361026 rs909669034 N.D. missenseTPhe [F]2335
contig referenceATyr [Y]2335
1716364381024 rs757407270 0.000 synonymousTLeu [L]3334
contig referenceCLeu [L]3334
1716364391023 rs201206951 0.000byCluster missenseCPro [P]2334
contig referenceTLeu [L]2334
1716364401022 rs1249595170 N.D. missenseGVal [V]1334
contig referenceCLeu [L]1334
1716364421020 rs746048852 0.000byFreq missenseAAsn [N]2333
contig referenceGSer [S]2333
1716364471015 rs547608702 0.000byFreqWith1000GenomeData0.0002 synonymousASer [S]3331
contig referenceGSer [S]3331
1716364481014 rs775982158 0.000byFreq missenseTLeu [L]2331
contig referenceCSer [S]2331
1716364511011 rs749735333 0.000 missenseCSer [S]2330
contig referenceATyr [Y]2330
1716364521009 rs762876843 0.000 (21bp) [cds-indel]3329
1716364531009 rs769011297 0.000 synonymousAVal [V]3329
contig referenceGVal [V]3329
1716364551007 rs146391864 0.001byClusterbyFreqWith1000GenomeData0.0010 missenseAMet [M]1329
contig referenceGVal [V]1329
1716364591003 rs762244947 0.000byFreq synonymousCAla [A]3327
contig referenceTAla [A]3327
1716364611001 rs1396237295 N.D. missenseAThr [T]1327
contig referenceGAla [A]1327
171636463999 rs1243570852 N.D. missenseAAsp [D]2326
contig referenceGGly [G]2326
171636464998 rs1447891498 N.D. missenseASer [S]1326
contig referenceGGly [G]1326
171636466996 rs147122394 0.000byClusterbyFreq missenseTMet [M]2325
contig referenceCThr [T]2325
171636468994 rs1439676883 N.D. synonymousTSer [S]3324
contig referenceCSer [S]3324
171636479983 rs759128833 0.000byFreq missenseAThr [T]1321
contig referenceCPro [P]1321
171636484978 rs766321647 0.000 frame shift-Leu [L]2319
contig referenceCPro [P]2319
171636486976 rs1225181645 N.D. synonymousALeu [L]3318
contig referenceGLeu [L]3318
171636488974 rs752488318 0.000byFreq synonymousTLeu [L]1318
contig referenceCLeu [L]1318
171636490972 rs1318342394 N.D. missenseALys [K]2317
contig referenceTIle [I]2317
171636496966 rs942833087 N.D. missenseCAla [A]2315
contig referenceTVal [V]2315
171636498964 rs1054929295 N.D. missenseTAsn [N]3314
contig referenceGLys [K]3314
171636501961 rs374805593 0.000byClusterbyFreq synonymousCSer [S]3313
contig referenceTSer [S]3313
171636502960 rs376895063 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGCys [C]2313
missenseTPhe [F]2313
contig referenceCSer [S]2313
171636504958 rs757174636 0.000 synonymousGPro [P]3312
contig referenceTPro [P]3312
171636506956 rs1193210485 N.D. missenseTSer [S]1312
contig referenceCPro [P]1312
171636507955 rs1268169520 N.D. nonsenseA3311
contig referenceCTyr [Y]3311
171636510952 rs781356204 0.000 synonymousTGly [G]3310
contig referenceCGly [G]3310
171636513949 rs745961303 0.000 synonymousAGln [Q]3309
contig referenceGGln [Q]3309
171636516946 rs1382463589 N.D. missenseAIle [I]3308
contig referenceGMet [M]3308
171636517945 rs1373074459 N.D. missenseCThr [T]2308
contig referenceTMet [M]2308
171636525937 rs756397695 0.000 missenseAArg [R]3305
synonymousTSer [S]3305
contig referenceCSer [S]3305
171636527935 rs780460955 0.000 missenseCArg [R]1305
contig referenceASer [S]1305
171636533929 rs144469479 0.000byClusterbyFreq missenseAIle [I]1303
missenseTPhe [F]1303
contig referenceCLeu [L]1303
171636534928 rs148433908 0.000byClusterbyFreq synonymousTAsp [D]3302
contig referenceCAsp [D]3302
171636540922 rs779176698 0.000byFreq synonymousAGlu [E]3300
contig referenceGGlu [E]3300
171636542920 rs748621461 0.000byClusterbyFreq missenseALys [K]1300
contig referenceGGlu [E]1300
171636543919 rs1041675997 N.D. synonymousCPhe [F]3299
contig referenceTPhe [F]3299
171636549913 rs907466277 N.D. synonymousAGln [Q]3297
contig referenceGGln [Q]3297
171636550912 rs772580255 0.000 missenseGArg [R]2297
contig referenceAGln [Q]2297
171636553909 rs145934417 0.000byClusterbyFreq missenseAHis [H]2296
missenseTLeu [L]2296
contig referenceGArg [R]2296
171636554908 rs759114694 0.000byFreq missenseTCys [C]1296
contig referenceCArg [R]1296
171636556906 rs769406646 0.000 missenseAAsp [D]2295
contig referenceTVal [V]2295
171636557905 rs1221123939 N.D. missenseAIle [I]1295
contig referenceGVal [V]1295
171636558904 rs1391217738 N.D. synonymousCAsp [D]3294
contig referenceTAsp [D]3294
171636559903 rs143474164 0.000byClusterbyFreq missenseCAla [A]2294
contig referenceAAsp [D]2294
171636561901 rs369169139 0.000byCluster synonymousAThr [T]3293
contig referenceGThr [T]3293
171636562900 rs139122673 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseALys [K]2293
missenseTMet [M]2293
contig referenceCThr [T]2293
171636563899 rs751319338 0.000 missenseGAla [A]1293
contig referenceAThr [T]1293
171636564898 rs1478456898 N.D. synonymousAGly [G]3292
contig referenceCGly [G]3292
171636572890 rs1437593676 N.D. missenseGAla [A]1290
contig referenceAThr [T]1290
171636573889 rs761755712 0.000 missenseAGlu [E]3289
contig referenceCAsp [D]3289
171636575887 rs767627671 0.000 missenseAAsn [N]1289
contig referenceGAsp [D]1289
171636576886 rs181923440 0.001byClusterbyFreqWith1000GenomeData0.0010 synonymousTIle [I]3288
contig referenceCIle [I]3288
171636580882 rs145229172 0.000byCluster missenseALys [K]2287
contig referenceGArg [R]2287
171636582880 rs867417217 N.D. nonsenseA3286
contig referenceGTrp [W]3286
171636583879 rs1438439753 N.D. nonsenseA2286
contig referenceGTrp [W]2286
171636584878 rs1351328951 N.D. missenseCArg [R]1286
contig referenceTTrp [W]1286
171636585877 rs146606638 0.008byClusterbyFreqWith1000GenomeData0.0016 synonymousAThr [T]3285
synonymousTThr [T]3285
contig referenceGThr [T]3285
171636586876 rs754051534 0.000 missenseTMet [M]2285
contig referenceCThr [T]2285
171636587875 rs755159007 0.000 missenseCPro [P]1285
contig referenceAThr [T]1285
171636588874 rs746216832 0.000byFreq synonymousTThr [T]3284
contig referenceCThr [T]3284
171636590872 rs748516657 0.000 missenseGAla [A]1284
contig referenceAThr [T]1284
171636591871 rs1293160006 N.D. synonymousAGlu [E]3283
contig referenceGGlu [E]3283
171636592870 rs1354582354 N.D. missenseGGly [G]2283
contig referenceAGlu [E]2283
171636594868 rs1375188145 N.D. synonymousAGln [Q]3282
contig referenceGGln [Q]3282
171636596866 rs774268708 0.000byCluster frame shift-Arg [R]1282
contig referenceCGln [Q]1282
171636599863 rs772565902 0.000byFreq missenseGAla [A]1281
contig referenceAThr [T]1281
171636603859 rs759863280 0.000 frame shift-Thr [T]3280
contig referenceCTyr [Y]3280
171636606856 rs778293128 0.000 synonymousTTyr [Y]3278
contig referenceCTyr [Y]3278
171636616846 rs745360975 0.000 missenseCThr [T]2275
contig referenceALys [K]2275
171636618844 rs1488630267 N.D. frame shift-Ser [S]3275
contig referenceCLys [K]3275
171636619843 rs769245094 0.000 missenseTLeu [L]2274
contig referenceCPro [P]2274
171636624838 rs577408409 0.000byFreqWith1000GenomeData0.0002 synonymousTArg [R]3272
contig referenceAArg [R]3272
171636625837 rs1483207236 N.D. missenseAGln [Q]2272
contig referenceGArg [R]2272
171636626836 rs202176570 0.000byCluster nonsenseT1272
contig referenceCArg [R]1272
171636627835 rs1416385168 N.D. missenseAIle [I]3271
contig referenceGMet [M]3271
171636628834 rs768209902 0.000 missenseALys [K]2271
contig referenceTMet [M]2271
171636630832 rs774185083 0.000byClusterbyFreq nonsenseA3270
contig referenceGTrp [W]3270
171636633829 rs761738409 0.000 synonymousAVal [V]3269
contig referenceGVal [V]3269
171636637825 rs767537634 0.000 missenseAAsp [D]2268
contig referenceGGly [G]2268
171636639823 rs750333892 0.000byFreq synonymousCTyr [Y]3267
contig referenceTTyr [Y]3267
171636640822 rs760721972 0.000 missenseGCys [C]2267
contig referenceATyr [Y]2267
171636646816 rs1366043025 N.D. missenseAAsp [D]2265
contig referenceGGly [G]2265
171636647815 rs1448638965 N.D. missenseASer [S]1265
contig referenceGGly [G]1265
171636648814 rs1304412356 N.D. synonymousCThr [T]3264
synonymousGThr [T]3264
contig referenceTThr [T]3264
171636655807 rs1370855815 N.D. missenseALys [K]2262
contig referenceCThr [T]2262
171636659803 rs982896610 N.D. missenseALys [K]1261
contig referenceGGlu [E]1261
171636660802 rs766500326 0.000byFreq synonymousGAla [A]3260
contig referenceAAla [A]3260
171636661801 rs753875477 0.000 missenseTVal [V]2260
contig referenceCAla [A]2260
171636663799 rs1354508868 N.D. synonymousTThr [T]3259
contig referenceAThr [T]3259
171636672790 rs142461632 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAThr [T]3256
contig referenceGThr [T]3256
171636673789 rs200072086 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGArg [R]2256
missenseTMet [M]2256
contig referenceCThr [T]2256
171636674788 rs758812142 0.000 missenseGAla [A]1256
contig referenceAThr [T]1256
171636677785 rs1211406577 N.D. missenseGVal [V]1255
contig referenceCLeu [L]1255
171636683779 rs1176798762 N.D. missenseALys [K]1253
contig referenceGGlu [E]1253
171636685777 rs778133478 0.000 missenseAGlu [E]2252
missenseCAla [A]2252
contig referenceGGly [G]2252
171636687775 rs1479836917 N.D. synonymousGVal [V]3251
contig referenceAVal [V]3251
171636689773 rs1177625094 N.D. missenseAIle [I]1251
contig referenceGVal [V]1251
171636690772 rs1234663139 N.D. missenseTCys [C]3250
contig referenceGTrp [W]3250
171636691768 rs1207915576 N.D. frame shift-Gly [G]2249
contig referenceTTTGVal [V]2249
171636705757 rs747479377 0.000 synonymousCCys [C]3245
contig referenceTCys [C]3245
171636709753 rs757769997 0.000 missenseTVal [V]2244
contig referenceGGly [G]2244
171638597752 rs757751695 0.000 missenseAArg [R]1244
contig referenceGGly [G]1244
171638598751 rs1014944863 N.D. synonymousTThr [T]3243
contig referenceCThr [T]3243
171638599750 rs781655611 0.000 missenseAAsn [N]2243
contig referenceCThr [T]2243
171638605744 rs1334182571 N.D. missenseCAla [A]2241
contig referenceGGly [G]2241
171638607741 rs752829138 0.000 frame shift-Gly [G]2240
contig referenceAGGlu [E]2240
171638607742 rs1397275775 N.D. synonymousAGlu [E]3240
contig referenceGGlu [E]3240
171638609740 rs537410373 N.D.byCluster nonsenseT1240
contig referenceGGlu [E]1240
171638612737 rs748807517 0.000byFreq missenseAArg [R]1239
contig referenceGGly [G]1239
171638614735 rs557741584 0.000With1000GenomeData0.0002 missenseAAsn [N]2238
missenseTIle [I]2238
contig referenceGSer [S]2238
171638623726 rs778512772 0.000 missenseGCys [C]2235
contig referenceATyr [Y]2235
171638624725 rs556146800 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseCHis [H]1235
contig referenceTTyr [Y]1235
171638630719 rs1288620211 N.D. missenseGAla [A]1233
contig referenceTSer [S]1233
171638631718 rs771863727 0.000 synonymousGPro [P]3232
contig referenceAPro [P]3232
171638632717 rs868255093 N.D.byCluster missenseTLeu [L]2232
contig referenceCPro [P]2232
171638633716 rs773127600 0.000 missenseTSer [S]1232
contig referenceCPro [P]1232
171638634715 rs540578493 0.000byFreqWith1000GenomeData0.0002 missenseAArg [R]3231
contig referenceCSer [S]3231
171638637712 rs770869439 0.000byFreq synonymousAGlu [E]3230
contig referenceGGlu [E]3230
171638644705 rs776482862 0.000 missenseGTrp [W]2228
contig referenceTLeu [L]2228
171638646703 rs1425541143 N.D. missenseGMet [M]3227
contig referenceTIle [I]3227
171638648701 rs973465392 N.D. missenseGVal [V]1227
contig referenceAIle [I]1227
171638648701 rs1474072208 N.D. frame shift-Phe [F]1227
contig referenceAIle [I]1227
171638650699 rs759540800 0.000byFreq missenseAGln [Q]2226
contig referenceGArg [R]2226
171638651698 rs765191378 0.000byFreq nonsenseT1226
contig referenceCArg [R]1226
171638660689 rs200968862 0.000byClusterWith1000GenomeData0.0002 missenseTSer [S]1223
contig referenceCPro [P]1223
171638661688 rs763107067 0.000 synonymousAVal [V]3222
contig referenceTVal [V]3222
171638663686 rs529138303 0.000byFreqWith1000GenomeData0.0002 missenseAIle [I]1222
contig referenceGVal [V]1222
171638666683 rs751919607 0.000 missenseALys [K]1221
contig referenceGGlu [E]1221
171638667682 rs1342777231 N.D. synonymousCThr [T]3220
contig referenceTThr [T]3220
171638668681 rs757609473 0.000byFreq missenseAAsn [N]2220
contig referenceCThr [T]2220
171638674675 rs767943710 0.000 missenseGGly [G]2218
contig referenceAGlu [E]2218
171638675674 rs200547613 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseALys [K]1218
contig referenceGGlu [E]1218
171638676673 rs756644125 0.000 synonymousTSer [S]3217
contig referenceCSer [S]3217
171638679670 rs141584495 0.001byClusterbyFreqWith1000GenomeData0.0002 synonymousALys [K]3216
contig referenceGLys [K]3216
171638683666 rs531050114 0.000byFreqWith1000GenomeData0.0002 missenseCPro [P]2215
contig referenceTLeu [L]2215
171638685664 rs758118086 0.000 synonymousGGlu [E]3214
contig referenceAGlu [E]3214
171638687662 rs772953674 N.D. missenseALys [K]1214
contig referenceGGlu [E]1214
171638691658 rs777606694 0.000byFreq missenseGLeu [L]3212
contig referenceCPhe [F]3212
171638693656 rs148167336 0.000byClusterbyFreq missenseGVal [V]1212
contig referenceTPhe [F]1212
171638696653 rs762742212 0.000 missenseAThr [T]1211
missenseTSer [S]1211
contig referenceGAla [A]1211
171638703646 rs2234927 0.001byClusterbyFreqWith1000GenomeData0.0008 missenseGGlu [E]3208
synonymousTAsp [D]3208
contig referenceCAsp [D]3208
171638708641 rs1165182491 N.D. missenseAMet [M]1207
contig referenceTLeu [L]1207
171638715634 rs57824969 0.002byClusterbyFreqWith1000GenomeData0.0036 synonymousAThr [T]3204
synonymousTThr [T]3204
contig referenceGThr [T]3204
171638716633 rs61753850 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseALys [K]2204
missenseTMet [M]2204
contig referenceCThr [T]2204
171638717632 rs774504389 0.000 missenseTSer [S]1204
contig referenceAThr [T]1204
171652019615 rs1036807734 N.D. missenseAAsp [D]2198
missenseCAla [A]2198
missenseTVal [V]2198
contig referenceGGly [G]2198
171652022612 rs368581344 0.000byCluster missenseGArg [R]2197
contig referenceCPro [P]2197
171652023611 rs781102368 N.D. missenseTSer [S]1197
contig referenceCPro [P]1197
171652027607 rs767270719 0.000 synonymousAVal [V]3195
contig referenceGVal [V]3195
171652029605 rs750155414 0.000 missenseAMet [M]1195
contig referenceGVal [V]1195
171652031603 rs755955429 0.000byFreq missenseGGly [G]2194
contig referenceCAla [A]2194
171652034600 rs200492183 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2193
contig referenceGArg [R]2193
171652035599 rs749154597 0.000 missenseTTrp [W]1193
contig referenceCArg [R]1193
171652038596 rs546885845 0.000With1000GenomeData0.0002 missenseAThr [T]1192
contig referenceGAla [A]1192
171652039595 rs145981631 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAThr [T]3191
synonymousCThr [T]3191
contig referenceTThr [T]3191
171652040594 rs1468022137 N.D. missenseTIle [I]2191
contig referenceCThr [T]2191
171652044590 rs201930435 0.000byClusterbyFreq missenseTTyr [Y]1190
contig referenceGAsp [D]1190
171652046588 rs144579767 0.000byClusterbyFreq missenseAGln [Q]2189
contig referenceGArg [R]2189
171652047587 rs562604064 0.000byCluster nonsenseT1189
contig referenceCArg [R]1189
171652052581 rs1332883080 N.D. frame shiftCCPro [P]1187
contig reference-Gln [Q]1187
171652062572 rs368373229 0.000byCluster missenseALys [K]1184
missenseGGlu [E]1184
contig referenceCGln [Q]1184
171652063571 rs771383303 0.000 synonymousTGly [G]3183
contig referenceCGly [G]3183
171652065569 rs777142456 0.000byFreq missenseASer [S]1183
contig referenceGGly [G]1183
171652072562 rs760063838 0.000byFreq synonymousALeu [L]3180
contig referenceGLeu [L]3180
171652075559 rs974695729 N.D. synonymousAArg [R]3179
contig referenceGArg [R]3179
171652079555 rs1216698710 N.D. missenseTVal [V]2178
contig referenceCAla [A]2178
171652080554 rs1381988697 N.D. missenseAThr [T]1178
contig referenceGAla [A]1178
171652084550 rs1277354229 N.D. synonymousAGlu [E]3176
contig referenceGGlu [E]3176
171652086548 rs779307074 0.000byFreq frame shift-Arg [R]1176
contig referenceGGlu [E]1176
171652088546 rs765906719 0.000 missenseGArg [R]2175
contig referenceAGln [Q]2175
171652093541 rs1290228659 N.D. synonymousTSer [S]3173
contig referenceCSer [S]3173
171652095539 rs1376748868 N.D. missenseGGly [G]1173
contig referenceASer [S]1173
171652100534 rs1404648434 N.D. missenseGGly [G]2171
contig referenceAGlu [E]2171
171652106528 rs773733798 0.000 missenseALys [K]2169
contig referenceGArg [R]2169
171652107527 rs761428873 0.000byFreq missenseGGly [G]1169
contig referenceAArg [R]1169
171652108526 rs767058394 0.000 synonymousAArg [R]3168
contig referenceGArg [R]3168
171652109525 rs866606263 N.D. missenseCThr [T]2168
contig referenceGArg [R]2168
171652111523 rs1421370936 N.D. synonymousTAla [A]3167
contig referenceCAla [A]3167
171652114520 rs529025300 0.000With1000GenomeData0.0002 synonymousTLeu [L]3166
contig referenceGLeu [L]3166
171652116518 rs755765093 0.000 missenseGVal [V]1166
synonymousTLeu [L]1166
contig referenceCLeu [L]1166
171652119515 rs766101256 0.000 missenseCHis [H]1165
contig referenceAAsn [N]1165
171652122512 rs1022182938 N.D. missenseALys [K]1164
contig referenceGGlu [E]1164
171652123511 rs1001221280 N.D. synonymousCAsn [N]3163
contig referenceTAsn [N]3163
171652128506 rs1423363951 N.D. missenseALys [K]1162
contig referenceGGlu [E]1162
171652130504 rs967892293 N.D. missenseGArg [R]2161
contig referenceAGln [Q]2161
171652133501 rs753688004 0.000 missenseALys [K]2160
contig referenceGArg [R]2160
171652135499 rs61730977 0.013byClusterbyFreqWith1000GenomeData0.0214 synonymousGLeu [L]3159
contig referenceALeu [L]3159
171652139495 rs199746824 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2158
missenseCPro [P]2158
contig referenceGArg [R]2158
171652140494 rs748152582 0.000byFreq nonsenseT1158
contig referenceCArg [R]1158
171652142492 rs1262516222 N.D. missenseCThr [T]2157
contig referenceALys [K]2157
171652146488 rs1392197716 N.D. nonsenseT1156
contig referenceALys [K]1156
171652149485 rs758453030 0.000 missenseALys [K]1155
contig referenceGGlu [E]1155
171652153481 rs777746857 0.000 missenseTAsp [D]3153
contig referenceGGlu [E]3153
171652154480 rs772953473 N.D. missenseTVal [V]2153
contig referenceAGlu [E]2153
171652157477 rs199705804 0.000byClusterbyFreq missenseCPro [P]2152
contig referenceTLeu [L]2152
171652161473 rs1220296487 N.D. missenseTPhe [F]1151
contig referenceGVal [V]1151
171652164470 rs1276825031 N.D. missenseGAla [A]1150
contig referenceTSer [S]1150
171652166468 rs1227195040 N.D. missenseGArg [R]2149
contig referenceALys [K]2149
171652172462 rs114283307 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2147
missenseTLeu [L]2147
contig referenceGArg [R]2147
171652173461 rs376127682 0.000byClusterbyFreq nonsenseT1147
contig referenceCArg [R]1147
171652174460 rs1244279144 N.D. synonymousTLeu [L]3146
contig referenceCLeu [L]3146
171652186448 rs770435837 N.D. nonsenseG3142
contig referenceCTyr [Y]3142
171652187447 rs576184926 N.D. missenseGCys [C]2142
contig referenceATyr [Y]2142
171652199435 rs80003669 N.D.byCluster missenseGTrp [W]2138
contig referenceTLeu [L]2138
171652200434 rs188649977 0.000byFreqWith1000GenomeData0.0002 synonymousCLeu [L]1138
contig referenceTLeu [L]1138
171652202432 rs770397942 0.000 missenseGGly [G]2137
missenseTVal [V]2137
contig referenceAGlu [E]2137
171652205429 rs776116208 0.000byFreq missenseCThr [T]2136
contig referenceGArg [R]2136
171652208426 rs763394945 0.000byFreq missenseTIle [I]2135
contig referenceCThr [T]2135
171652209425 rs766982506 0.000 missenseGAla [A]1135
contig referenceAThr [T]1135
171652213421 rs1196348733 N.D. synonymousTThr [T]3133
contig referenceCThr [T]3133
171652215419 rs1311878166 N.D. missenseGAla [A]1133
contig referenceAThr [T]1133
171652221413 rs1412049762 N.D. missenseGVal [V]1131
contig referenceCLeu [L]1131
171652222412 rs1422902348 N.D. synonymousAGln [Q]3130
contig referenceGGln [Q]3130
171652223411 rs1164987138 N.D. missenseGArg [R]2130
contig referenceAGln [Q]2130
171652228406 rs772609373 0.000byFreq synonymousAArg [R]3128
synonymousCArg [R]3128
contig referenceGArg [R]3128
171652229405 rs766083192 0.000 missenseAGln [Q]2128
contig referenceGArg [R]2128
171652230404 rs200971340 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGly [G]1128
missenseTTrp [W]1128
contig referenceCArg [R]1128
171652232402 rs1157512387 N.D. missenseTVal [V]2127
contig referenceAGlu [E]2127
171652235399 rs144709484 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2126
contig referenceGArg [R]2126
171652236398 rs200120115 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTTrp [W]1126
contig referenceCArg [R]1126
171652242392 rs1184334502 N.D. frame shift-1124
contig referenceCLeu [L]1124
171652243391 rs75682756 0.001byClusterbyFreqWith1000GenomeData0.0014 synonymousTThr [T]3123
contig referenceCThr [T]3123
171652246388 rs145354114 0.005byClusterbyFreqWith1000GenomeData0.0014 synonymousAGly [G]3122
synonymousTGly [G]3122
contig referenceCGly [G]3122
171652247387 rs1395679980 N.D. missenseTVal [V]2122
contig referenceGGly [G]2122
171652249385 rs767180082 N.D. synonymousALeu [L]3121
contig referenceGLeu [L]3121
171652251383 rs1313640157 N.D. missenseGVal [V]1121
synonymousTLeu [L]1121
contig referenceCLeu [L]1121
171652254380 rs746210903 0.000byFreq frame shift-Ser [S]1120
contig referenceGGlu [E]1120
171652260374 rs777853471 0.000 nonsenseT1118
contig referenceCGln [Q]1118
171652263371 rs867584442 N.D. synonymousTLeu [L]1117
contig referenceCLeu [L]1117
171652265369 rs751747555 0.000byFreq missenseAGlu [E]2116
contig referenceGGly [G]2116
171652269365 rs757551979 0.000byFreq nonsenseT1115
missenseALys [K]1115
contig referenceGGlu [E]1115
171652270364 rs781609689 0.000 synonymousAGln [Q]3114
contig referenceGGln [Q]3114
171652272362 rs1236118923 N.D. nonsenseT1114
contig referenceCGln [Q]1114
171652273361 rs1315269847 N.D. synonymousAThr [T]3113
contig referenceCThr [T]3113
171652280354 rs1231680001 N.D. missenseGArg [R]2111
contig referenceAGln [Q]2111
171652289345 rs145393453 0.000 missenseGGly [G]2108
contig referenceCAla [A]2108
171652290344 rs1483089986 N.D. missenseTSer [S]1108
contig referenceGAla [A]1108
171652298336 rs746215350 0.000 missenseCAla [A]2105
contig referenceAAsp [D]2105
171652299335 rs1244653519 N.D. missenseAAsn [N]1105
contig referenceGAsp [D]1105
171652300334 rs1373947165 N.D. synonymousALeu [L]3104
contig referenceGLeu [L]3104
171652303331 rs368702811 0.000byClusterbyFreq synonymousTThr [T]3103
contig referenceCThr [T]3103
171652309325 rs61730978 0.000byClusterbyFreq synonymousGGln [Q]3101
contig referenceAGln [Q]3101
171652315319 rs1192166022 N.D. synonymousTLeu [L]399
contig referenceCLeu [L]399
171652320314 rs1421478281 N.D. missenseTPhe [F]198
contig referenceCLeu [L]198
171652321313 rs1391830390 N.D. missenseAArg [R]397
contig referenceCSer [S]397
171652322312 rs769096964 0.000 missenseTIle [I]297
contig referenceGSer [S]297
171652324310 rs202052242 0.000byClusterWith1000GenomeData0.0002 synonymousAGlu [E]396
contig referenceGGlu [E]396
171652329305 rs1161305021 N.D. missenseAMet [M]195
contig referenceCLeu [L]195
171652336298 rs1466413789 N.D. synonymousTLeu [L]392
contig referenceCLeu [L]392
171652340294 rs760218096 0.000byFreq missenseAGln [Q]291
contig referenceGArg [R]291
171652341293 rs143413116 0.000byClusterbyFreq nonsenseT191
contig referenceCArg [R]191
171652343291 rs201096489 0.001byClusterbyFreqWith1000GenomeData0.0006 missenseGGly [G]290
contig referenceCAla [A]290
171652344290 rs759216662 0.000 missenseTSer [S]190
contig referenceGAla [A]190
171652346288 rs1377689688 N.D. missenseCThr [T]289
contig referenceALys [K]289
171652351283 rs1446538467 N.D. synonymousTAla [A]387
contig referenceCAla [A]387
171652355279 rs1225978246 N.D. missenseGGly [G]286
contig referenceAGlu [E]286
171652356278 rs1277050931 N.D. missenseALys [K]186
contig referenceGGlu [E]186
171652357277 rs765017927 0.000byFreq synonymousALeu [L]385
synonymousCLeu [L]385
contig referenceGLeu [L]385
171652359275 rs1181173454 N.D. missenseGVal [V]185
contig referenceCLeu [L]185
171652360274 rs1211343816 N.D. synonymousTAsp [D]384
contig referenceCAsp [D]384
171652364270 rs762356089 N.D. nonsenseA283
contig referenceTLeu [L]283
171652367267 rs201552559 0.001byClusterbyFreq missenseAHis [H]282
contig referenceGArg [R]282
171652368266 rs764005392 0.000byFreq missenseTCys [C]182
contig referenceCArg [R]182
171652378256 rs765873975 0.000 synonymousTSer [S]378
contig referenceCSer [S]378
171652382252 rs1470849217 N.D. missenseCAla [A]277
contig referenceAAsp [D]277
171652385249 rs2234926 0.255byClusterbyFreqWith1000GenomeData0.1362 missenseALys [K]276
missenseALys [K]276
contig referenceGArg [R]276
contig referenceGArg [R]276
171652389245 rs781448289 0.000 nonsenseT175
missenseALys [K]175
missenseGGlu [E]175
contig referenceCGln [Q]175
171652397237 rs750636723 0.000 missenseGArg [R]272
contig referenceAHis [H]272
171652399235 rs1278512443 N.D. synonymousAIle [I]371
contig referenceCIle [I]371
171652400234 rs1178386851 N.D. missenseAAsn [N]271
contig referenceTIle [I]271
171652402232 rs756300389 0.000byFreq synonymousTVal [V]370
contig referenceCVal [V]370
171652403231 rs780449635 0.000 missenseCAla [A]270
contig referenceTVal [V]270
171652412222 rs1330854720 N.D. missenseAAsp [D]267
contig referenceCAla [A]267
171652414220 rs1401140470 N.D. synonymousAGln [Q]366
contig referenceGGln [Q]366
171652422212 rs573459235 0.000byFreqWith1000GenomeData0.0002 nonsenseT164
contig referenceCGln [Q]164
171652429205 rs376654753 0.000byCluster synonymousTCys [C]361
contig referenceCCys [C]361
171652442192 rs561439247 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGSer [S]257
contig referenceAAsn [N]257
171652453181 rs1367563857 N.D. synonymousAVal [V]353
contig referenceGVal [V]353
171652454180 rs200208925 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCAla [A]253
contig referenceTVal [V]253
171652458176 rs748675180 0.000byFreq missenseGGly [G]152
missenseTCys [C]152
contig referenceASer [S]152
171652462172 rs770388138 0.000 synonymousTThr [T]350
contig referenceCThr [T]350
171652463171 rs138599473 0.000byClusterbyFreq missenseTIle [I]250
contig referenceCThr [T]250
171652469165 rs1030834727 N.D. missenseCPro [P]248
contig referenceAGln [Q]248
171652471163 rs1439192102 N.D. synonymousTCys [C]347
contig referenceCCys [C]347
171652472162 rs1218795611 N.D. missenseATyr [Y]247
missenseCSer [S]247
contig referenceGCys [C]247
171652475159 rs769391104 0.000 missenseAGln [Q]246
contig referenceGArg [R]246
171652479155 rs1201451610 N.D. missenseASer [S]145
contig referenceGGly [G]145
171652483151 rs1444981051 N.D. frame shift-Val [V]344
contig referenceGSer [S]344
171652490144 rs754660394 0.000 frame shift-Met [M]241
contig referenceAAsn [N]241
171652492142 rs774387136 0.000 synonymousAAla [A]340
contig referenceCAla [A]340
171652493141 rs761877439 0.000 missenseTVal [V]240
contig referenceCAla [A]240
171652494140 rs1420573642 N.D. missenseAThr [T]140
contig referenceGAla [A]140
171652495139 rs1283092813 N.D. synonymousALys [K]339
contig referenceGLys [K]339
171652498136 rs767644139 0.000byFreq synonymousAArg [R]338
contig referenceGArg [R]338
171652499135 rs750585311 0.000 missenseALys [K]238
contig referenceGArg [R]238
171652503131 rs756353011 0.000 missenseGVal [V]137
contig referenceCLeu [L]137
171652511122 rs1349320348 N.D. frame shiftGAGCTArg [R]134
contig reference-Thr [T]134
171652514120 rs565284878 0.000byClusterbyFreq missenseALys [K]233
contig referenceGArg [R]233
171652515119 rs1305434893 N.D. missenseGGly [G]133
contig referenceAArg [R]133
171652520114 rs867193495 N.D.byCluster missenseAGlu [E]231
missenseCAla [A]231
contig referenceGGly [G]231
171652521113 rs150724391 0.000byClusterbyFreq missenseTTrp [W]131
contig referenceGGly [G]131
171652522112 rs1352156157 N.D. synonymousAVal [V]330
contig referenceGVal [V]330
171652529105 rs149532234 0.000byCluster missenseCSer [S]228
contig referenceGTrp [W]228
171652531103 rs917280332 N.D. synonymousAVal [V]327
contig referenceGVal [V]327
17165253995 rs755246983 0.000 missenseCArg [R]125
contig referenceTCys [C]125
17165253994 rs780647514 0.000 frame shift(17bp)Ser [S]325
contig reference-Cys [C]325
17165254193 rs904659041 N.D. missenseAAsp [D]224
contig referenceCAla [A]224
17165254688 rs746891195 0.000byClusterbyFreq frame shift-Trp [W]323
contig referenceTLeu [L]323
17165255183 rs779280778 0.000 synonymousTLeu [L]121
contig referenceCLeu [L]121
17165255579 rs2234925 0.000byClusterbyFreqWith1000GenomeData0.0012 missenseCHis [H]319
missenseTHis [H]319
synonymousAGln [Q]319
contig referenceGGln [Q]319
17165256173 rs780667151 0.000 synonymousCAla [A]317
contig referenceTAla [A]317
17165256371 rs1029637512 N.D. missenseAThr [T]117
contig referenceGAla [A]117
17165256569 rs745439002 0.000 missenseTLeu [L]216
contig referenceCPro [P]216
17165256668 rs1487918397 N.D. missenseGAla [A]116
contig referenceCPro [P]116
17165256866 rs533025374 0.000With1000GenomeData0.0002 missenseALys [K]215
missenseCThr [T]215
contig referenceTMet [M]215
17165257064 rs775057307 0.000 synonymousAGlu [E]314
contig referenceGGlu [E]314
17165257361 rs12082573 0.013byClusterbyFreqWith1000GenomeData0.0214 synonymousCPro [P]313
synonymousGPro [P]313
contig referenceTPro [P]313
17165257658 rs774295586 0.000 synonymousTGly [G]312
contig referenceGGly [G]312
17165257856 rs199752860 0.001byClusterbyFreqWith1000GenomeData0.0014 missenseCArg [R]112
contig referenceGGly [G]112
17165259242 rs767625681 0.000byFreq missenseAHis [H]27
contig referenceGArg [R]27
17165259341 rs1165545235 N.D. missenseTCys [C]17
contig referenceCArg [R]17
17165259638 rs773309469 0.000 missenseAThr [T]16
contig referenceGAla [A]16
17165259737 rs1399909538 N.D. missenseGTrp [W]35
contig referenceTCys [C]35
17165260826 rs1319418513 N.D. missenseGGly [G]12
contig referenceAArg [R]12