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SNP linked to Gene (geneID:83259) 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): 9
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_032973.2plus strandNP_116755.1forwardNT_011896.10GRCh38.p7<- currently shown
XM_017030083.1plus strandXP_016885572.1forwardNT_011896.10GRCh38.p7View snp on GeneModel
XM_017030082.1plus strandXP_016885571.1forwardNT_011896.10GRCh38.p7View snp on GeneModel
XM_017030081.1plus strandXP_016885570.1forwardNT_011896.10GRCh38.p7View snp on GeneModel
XM_017030080.1plus strandXP_016885569.1forwardNT_011896.10GRCh38.p7View snp on GeneModel
XM_017030079.1plus strandXP_016885568.1forwardNT_011896.10GRCh38.p7View snp on GeneModel
NM_032972.2plus strandNP_116754.1forwardNT_011896.10GRCh38.p7View snp on GeneModel
NM_032971.2plus strandNP_116753.1forwardNT_011896.10GRCh38.p7View snp on GeneModel
NM_001278619.1plus strandNP_001265548.1forwardNT_011896.10GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_011896.10NM_032973.2NP_116755.1forwardplus strand287, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Clinically
Associated
Clinical
Significance
Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
5056837748 rs781152552 0.000 missenseTVal [V]25
contig referenceGGly [G]25
5056843754 rs754078458 0.000 -29
5056896807 rs867305712 N.D. missenseTTrp [W]125
contig referenceCArg [R]125
5056898809 rs750476595 0.000byFreq synonymousAArg [R]325
contig referenceGArg [R]325
5056917828 rs756126492 0.000 missenseGAsp [D]132
contig referenceCHis [H]132
5056934845 rs780595508 0.000 synonymousTSer [S]337
contig referenceCSer [S]337
5056944855 rs749789947 0.000byFreq missenseGVal [V]141
contig referenceAIle [I]141
5056948859 rs769011963 0.000 missenseATyr [Y]242
contig referenceTPhe [F]242
5056963874 rs2249187 N.D.bySubmitter missenseCAla [A]247
contig referenceTVal [V]247
5056968879 rs779188703 0.000 missenseTLeu [L]149
contig referenceGVal [V]149
5056971882 rs747775858 0.000 missenseAMet [M]150
contig referenceGVal [V]150
5056973884 rs771711841 0.000byFreq synonymousAVal [V]350
contig referenceGVal [V]350
5057016927 rs772705513 0.000 missenseCGln [Q]165
contig referenceGGlu [E]165
5057021932 rs207480113 N.D. missenseGMet [M]366
contig referenceTIle [I]366
5057022933 rs868334222 N.D. missenseTSer [S]167
contig referenceCPro [P]167
5057043954 rs2571796 N.D. missenseGAsp [D]174
contig referenceAAsn [N]174
5057076987 rs755217405 0.000 frame shift-Gln [Q]185
contig referenceCPro [P]185
5057087998 rs760286128 0.000 synonymousTSer [S]388
contig referenceCSer [S]388
50570961007 rs765741865 0.000 frame shiftAAsn [N]392
contig reference-Thr [T]392
50570971008 rs2571795 N.D.byCluster missenseGAla [A]192
contig referenceAThr [T]192
50571011012 rs770555410 0.000 missenseCThr [T]293
contig referenceTMet [M]293
50571131024 rs776780188 0.000byFreq missenseCPro [P]297
contig referenceTLeu [L]297
50571211032 rs759482842 0.005byFreq missenseCGln [Q]1100
contig referenceALys [K]1100
50571261037 rs765139414 0.000 synonymousTThr [T]3101
contig referenceCThr [T]3101
50571701081 rs752489845 0.000 missenseCThr [T]2116
contig referenceTIle [I]2116
50571731084 rs373429121 0.000byCluster missenseATyr [Y]2117
contig referenceTPhe [F]2117
50571801091 rs2563755 N.D.bySubmitter synonymousTThr [T]3119
contig referenceCThr [T]3119
50571811092 rs767822284 0.000 missenseASer [S]1120
contig referenceGGly [G]1120
50572141125 rs750596391 0.000 missenseCArg [R]1131
contig referenceGGly [G]1131
50572151126 rs756252078 0.000 missenseCAla [A]2131
contig referenceGGly [G]2131
50572251136 rs867124881 N.D. synonymousAArg [R]3134
contig referenceGArg [R]3134
50572521163 rs780040928 0.000byFreq missenseCAsp [D]3143
contig referenceGGlu [E]3143
50572671178 rs754353764 0.000 synonymousAPro [P]3148
contig referenceGPro [P]3148
50572791190 rs753075662 0.000 frame shiftALys [K]3153
contig reference-Arg [R]3153
50572851196 rs755426217 0.000byFreq synonymousCLeu [L]3154
contig referenceGLeu [L]3154
50573011212 rs779172989 0.000 synonymousTLeu [L]1160
contig referenceCLeu [L]1160
50573191230 rs748582670 0.000 missenseAAsn [N]1166
contig referenceGAsp [D]1166
50573311242 rs758664203 0.000 synonymousCLeu [L]1170
contig referenceTLeu [L]1170
50573381249 rs777544651 0.000byFreq missenseTLeu [L]2172
contig referenceCPro [P]2172
50573661277 rs376456882 0.001 YessynonymousGPro [P]3181
contig referenceAPro [P]3181
50573891300 rs202086948 0.001byClusterbyFreq YesmissenseTIle [I]2189
contig referenceALys [K]2189
50573931304 rs770573498 0.000 synonymousCTyr [Y]3190
contig referenceTTyr [Y]3190
50574261337 rs2524442 N.D.bySubmitter synonymousAGly [G]3201
contig referenceCGly [G]3201
50574371348 rs370631990 0.000byCluster YesmissenseAAsp [D]2205
contig referenceTVal [V]2205
50574481359 rs769816259 0.000byFreq missenseCGln [Q]1209
contig referenceGGlu [E]1209
50982231379 rs763792080 0.000 synonymousTAsn [N]3215
contig referenceCAsn [N]3215
50982351391 rs773486902 0.000 synonymousTLeu [L]3219
contig referenceCLeu [L]3219
50982431399 rs760827367 0.000 missenseCThr [T]2222
contig referenceTIle [I]2222
50983101466 rs766467662 0.000 synonymousALys [K]3244
contig referenceGLys [K]3244
50983161472 rs753872132 0.000byFreq synonymousAThr [T]3246
contig referenceCThr [T]3246
50983191475 rs2563382 N.D.bySubmitter synonymousCTyr [Y]3247
contig referenceTTyr [Y]3247
50983361492 rs755015554 0.000 missenseCAla [A]2253
contig referenceTVal [V]2253
50983571513 rs765817926 0.000 missenseCPro [P]2260
contig referenceAGln [Q]2260
50983711527 rs201490303 0.001byClusterbyFreq missenseAThr [T]1265
contig referenceGAla [A]1265
50983721528 rs758868258 0.000 missenseGGly [G]2265
contig referenceCAla [A]2265
50983731529 rs777937065 0.000 synonymousCAla [A]3265
contig referenceTAla [A]3265
50983741530 rs746675404 0.000 missenseTPhe [F]1266
contig referenceAIle [I]1266
50983851541 rs2571659 N.D. synonymousGVal [V]3269
contig referenceAVal [V]3269
50984311587 rs780882132 0.000 missenseALys [K]1285
contig referenceGGlu [E]1285
50984351591 rs745411676 0.006byFreq missenseCThr [T]2286
contig referenceTIle [I]2286
50984751631 rs769406199 0.000byFreq synonymousGSer [S]3299
contig referenceASer [S]3299
50984881644 rs201957141 0.002byClusterbyFreq YesmissenseTTyr [Y]1304
contig referenceCHis [H]1304
50985341690 rs749112314 0.000 missenseTPhe [F]2319
contig referenceCSer [S]2319
50985521708 rs768508512 0.000byFreq missenseTPhe [F]2325
contig referenceCSer [S]2325
50986161772 rs773966755 0.000byFreq synonymousCPro [P]3346
contig referenceAPro [P]3346
50986951851 rs760915477 0.000 missenseTLeu [L]1373
contig referenceGVal [V]1373
50987201876 rs766625672 0.000byFreq missenseGSer [S]2381
contig referenceAAsn [N]2381
50987271883 rs776808058 0.001 synonymousCAsn [N]3383
contig referenceTAsn [N]3383
50987431899 rs759666441 0.000 missenseCLeu [L]1389
contig referenceAIle [I]1389
50987441900 rs778372208 0.000byFreq AAGATA2391
50987521908 rs765232225 0.000byFreq missenseGVal [V]1392
contig referenceAIle [I]1392
50987541910 rs371061873 0.004byClusterbyFreq synonymousTIle [I]3392
contig referenceCIle [I]3392
50987551911 rs758776814 0.001byFreq missenseAIle [I]1393
contig referenceGVal [V]1393
50987591915 rs764544799 0.000 missenseGSer [S]2394
contig referenceAAsn [N]2394
50987791935 rs751934946 0.000 missenseAIle [I]1401
contig referenceGVal [V]1401
50987861942 rs757666483 0.000 nonsenseA2403
contig referenceCSer [S]2403
50988171973 rs781041572 0.000 synonymousCAla [A]3413
contig referenceTAla [A]3413
50988442000 rs374520612 0.000byCluster synonymousAAla [A]3422
contig referenceGAla [A]3422
50988612017 rs755654865 0.000 missenseGGly [G]2428
contig referenceTVal [V]2428
50988802036 rs779372940 0.000 synonymousCHis [H]3434
contig referenceTHis [H]3434
50988812037 rs867756034 N.D. missenseALys [K]1435
contig referenceGGlu [E]1435
50988862042 rs2563383 N.D. synonymousCIle [I]3436
contig referenceTIle [I]3436
50989332089 rs2571660 N.D.bySubmitter missenseCThr [T]2452
contig referenceAAsn [N]2452
50989342090 rs749268165 0.000 missenseALys [K]3452
contig referenceTAsn [N]3452
50989622118 rs768434937 0.000byFreq missenseGGlu [E]1462
contig referenceALys [K]1462
50989722128 rs778787676 0.000 missenseAAsp [D]2465
contig referenceCAla [A]2465
50989932149 rs747982418 0.000 missenseTVal [V]2472
contig referenceAAsp [D]2472
50989952151 rs771837252 0.000byFreq missenseCPro [P]1473
contig referenceGAla [A]1473
50990052161 rs776908802 0.000 missenseTLeu [L]2476
contig referenceCPro [P]2476
50990602216 rs759691066 0.000byFreq synonymousCAsn [N]3494
contig referenceTAsn [N]3494
50990802236 rs769933520 0.000byFreq missenseTPhe [F]2501
contig referenceCSer [S]2501
50991222278 rs775386613 0.000byFreq missenseGSer [S]2515
contig referenceTIle [I]2515
50991312287 rs2241625 N.D. missenseCThr [T]2518
contig referenceTMet [M]2518
50991462302 rs207480126 0.000byClusterbyFreq YesmissenseTMet [M]2523
contig referenceCThr [T]2523
50991482304 rs371326440 0.000byCluster YesmissenseAAsn [N]1524
contig referenceGAsp [D]1524
50991622318 rs752090605 0.000 synonymousAGly [G]3528
contig referenceGGly [G]3528
50991652321 rs762326986 0.000 synonymousCPro [P]3529
contig referenceTPro [P]3529
50991722328 rs2241627 N.D.byCluster YesmissenseALys [K]1532
contig referenceGGlu [E]1532
50991862342 rs767926692 0.000 synonymousCLeu [L]3536
contig referenceGLeu [L]3536
50992232379 rs750113181 0.000byFreq missenseTCys [C]1549
contig referenceCArg [R]1549
50992272383 rs755672059 0.000byFreq missenseAHis [H]2550
contig referenceGArg [R]2550
50992322388 rs779644175 0.000 missenseTCys [C]1552
contig referenceGGly [G]1552
50992382394 rs753325680 0.000 synonymousTLeu [L]1554
contig referenceCLeu [L]1554
50992472403 rs754486741 0.000 missenseAMet [M]1557
contig referenceGVal [V]1557
50992492405 rs866213478 N.D. synonymousAVal [V]3557
contig referenceGVal [V]3557
50992732429 rs374899751 0.001 YessynonymousAGlu [E]3565
contig referenceGGlu [E]3565
50992762432 rs778875690 0.000 synonymousCAsp [D]3566
contig referenceTAsp [D]3566
50992952451 rs748070080 0.000 missenseGVal [V]1573
contig referenceCLeu [L]1573
50993092465 rs2241629 N.D.byClusterbySubmitter YessynonymousCAsn [N]3577
contig referenceTAsn [N]3577
50993192475 rs200566765 0.000byCluster YesmissenseTSer [S]1581
contig referenceCPro [P]1581
50993202476 rs777490540 0.000 missenseAHis [H]2581
contig referenceCPro [P]2581
50993322488 rs746127874 0.000 missenseGSer [S]2585
contig referenceAAsn [N]2585
50993432499 rs769870383 0.000 missenseGVal [V]1589
contig referenceTPhe [F]1589
50993542510 rs775752256 0.000 missenseGMet [M]3592
contig referenceTIle [I]3592
50993642520 rs372001722 0.000byCluster missenseGAsp [D]1596
contig referenceAAsn [N]1596
50993912547 rs768767519 0.000byFreq missenseCHis [H]1605
contig referenceAAsn [N]1605
50993992555 rs775065846 0.000 nonsenseA3607
contig referenceCTyr [Y]3607
50994312587 rs762351664 0.000 missenseGArg [R]2618
contig referenceAHis [H]2618
50994712627 rs768016456 0.000byFreq synonymousCTyr [Y]3631
contig referenceTTyr [Y]3631
50994912647 rs773670079 0.000 missenseTMet [M]2638
contig referenceCThr [T]2638
50994992655 rs761067048 0.000 missenseGVal [V]1641
contig referenceAIle [I]1641
50995082664 rs765993869 0.000 missenseALys [K]1644
contig referenceGGlu [E]1644
50995242680 rs377084479 0.000byCluster YesmissenseTIle [I]2649
contig referenceCThr [T]2649
50995392695 rs754509948 0.000 missenseTIle [I]2654
contig referenceCThr [T]2654
50995502706 rs764664548 0.000byFreq nonsenseT1658
contig referenceCArg [R]1658
50995752731 rs752649697 0.000 missenseGGly [G]2666
contig referenceAGlu [E]2666
50995842740 rs758285370 0.000 missenseTVal [V]2669
contig referenceAGlu [E]2669
50995912747 rs369443665 0.000byClusterbyFreq YesnonsenseG3671
contig referenceCTyr [Y]3671
50996312787 rs746821807 0.000 missenseTCys [C]1685
contig referenceCArg [R]1685
50996322788 rs757055521 0.000 missenseAHis [H]2685
contig referenceGArg [R]2685
50996932849 rs746530018 0.000 frame shift-Leu [L]3705
contig referenceCPhe [F]3705
50996952851 rs780199773 0.000 missenseCThr [T]2706
contig referenceTIle [I]2706
50997072863 rs2571661 N.D. missenseCSer [S]2710
contig referenceATyr [Y]2710
50997132869 rs2571662 N.D. missenseGCys [C]2712
contig referenceATyr [Y]2712
50997162872 rs749522575 0.000 missenseTPhe [F]2713
contig referenceCSer [S]2713
50997282884 rs768870367 0.000byFreq missenseGGly [G]2717
contig referenceTVal [V]2717
50997482904 rs774524146 0.000 missenseASer [S]1724
contig referenceGGly [G]1724
50997752931 rs748694745 0.000 missenseAIle [I]1733
contig referenceGVal [V]1733
50997842940 rs772744865 0.000byFreq missenseAAsn [N]1736
contig referenceGAsp [D]1736
50997922948 rs773744344 0.000 synonymousTGly [G]3738
contig referenceCGly [G]3738
50997992955 rs761000230 0.000 missenseTSer [S]1741
contig referenceGAla [A]1741
50998002956 rs766757527 0.000 missenseTVal [V]2741
contig referenceCAla [A]2741
50998092965 rs776149147 0.000 missenseAHis [H]2744
contig referenceGArg [R]2744
50998262982 rs759174224 0.000 missenseAArg [R]1750
contig referenceGGly [G]1750
50998533009 rs764753768 0.000 missenseAAsn [N]1759
contig referenceGAsp [D]1759
50998643020 rs752165407 0.000byFreq synonymousGThr [T]3762
contig referenceAThr [T]3762
50998903046 rs372914232 0.001 YesmissenseATyr [Y]2771
contig referenceGCys [C]2771
50998923048 rs377204563 0.000byClusterbyFreq YesmissenseCHis [H]1772
contig referenceGAsp [D]1772
50999073063 rs756653505 0.000 frame shiftGTVal [V]1778
contig reference-Leu [L]1778
50999203076 rs368952613 0.001 YesmissenseCAla [A]2781
contig referenceTVal [V]2781
50999223078 rs764069213 0.000 missenseGVal [V]1782
contig referenceTLeu [L]1782
50999603116 rs751502898 0.000 synonymousGLeu [L]3794
contig referenceCLeu [L]3794
50999833139 rs757066666 0.000 missenseCPro [P]2802
contig referenceTLeu [L]2802
50999883144 rs780974994 0.001byFreq missenseAMet [M]1804
contig referenceGVal [V]1804
50999993155 rs2571663 N.D. synonymousGSer [S]3807
contig referenceASer [S]3807
51000003156 rs866699978 N.D. missenseAMet [M]1808
contig referenceGVal [V]1808
51000333189 rs749494291 0.000 missenseTCys [C]1819
contig referenceCArg [R]1819
51000343190 rs755210662 0.000 missenseAHis [H]2819
contig referenceGArg [R]2819
51000433199 rs2563385 N.D.bySubmitter missenseCThr [T]2822
contig referenceTIle [I]2822
51000493205 rs779244713 0.000byFreq missenseAGlu [E]2824
missenseTVal [V]2824
contig referenceCAla [A]2824
51000513207 rs372659005 0.000byCluster missenseTSer [S]1825
contig referenceCPro [P]1825
51000733229 rs762111549 N.D. missenseGArg [R]2832
contig referenceTIle [I]2832
51000953251 rs773655854 0.000 synonymousGThr [T]3839
contig referenceTThr [T]3839
51000983254 rs747479131 0.000 missenseAArg [R]3840
contig referenceTSer [S]3840
51001113267 rs771216796 0.000byFreq missenseGVal [V]1845
contig referenceAIle [I]1845
51001473303 rs777010130 0.000byFreq missenseAIle [I]1857
contig referenceGVal [V]1857
51001813337 rs759220794 0.000byFreq missenseATyr [Y]2868
contig referenceGCys [C]2868
51001843340 rs769480066 0.000byFreq missenseAHis [H]2869
contig referenceGArg [R]2869
51002133369 rs775103258 0.000 missenseGGlu [E]1879
contig referenceALys [K]1879
51002133369 rs780748380 0.000 frame shift-Thr [T]1880
contig referenceAAsn [N]1880
51002173373 rs376916316 0.001 missenseGSer [S]2880
contig referenceAAsn [N]2880
51002203376 rs2563386 N.D. missenseALys [K]2881
contig referenceTMet [M]2881
51002413397 rs745563537 0.000 frame shift-Gln [Q]2889
contig referenceCPro [P]2889
51002693425 rs369307332 0.001 synonymousCIle [I]3897
contig referenceAIle [I]3897
51002723428 rs762509994 0.001byFreq missenseCIle [I]3898
contig referenceGMet [M]3898
51002763432 rs763655871 0.000byFreq missenseGGlu [E]1900
contig referenceALys [K]1900
51002873443 rs769458071 0.000byFreq frame shift-Arg [R]3904
contig referenceAAAGLys [K]3904
51002883444 rs775295741 0.000 -1907
51002963452 rs751456442 0.000 missenseTAsn [N]3906
contig referenceGLys [K]3906
51002973453 rs761760020 0.000byFreq missenseCGln [Q]1907
contig referenceALys [K]1907
51003153471 rs2571664 N.D. synonymousTLeu [L]1913
contig referenceCLeu [L]1913
51003273483 rs2524543 0.497byClusterbyFreq missenseTPhe [F]1917
contig referenceGVal [V]1917
51003523508 rs750270974 0.000byFreq missenseGGly [G]2925
contig referenceCAla [A]2925
51003533509 rs755949078 0.000 synonymousTAla [A]3925
contig referenceAAla [A]3925
51003833539 rs749035142 0.000byFreq frame shift-Arg [R]3937
contig referenceCALeu [L]3937
51003943550 rs779332853 0.000 missenseCPro [P]2939
contig referenceTLeu [L]2939
51004043560 rs752961095 0.000 missenseAGlu [E]3942
contig referenceTAsp [D]3942
51004223578 rs758552174 0.000 missenseAIle [I]3948
contig referenceGMet [M]3948
51004363592 rs777849106 0.000byFreq nonsenseA2953
contig referenceGTrp [W]2953
51004643620 rs2563387 N.D.byClusterbySubmitter synonymousCPro [P]3962
contig referenceTPro [P]3962
51004693625 rs747496544 0.000 missenseAAsn [N]2964
contig referenceGSer [S]2964
51004773633 rs771433686 0.000byFreq missenseGVal [V]1967
contig referenceTLeu [L]1967
51004793635 rs781523293 0.000 missenseCPhe [F]3967
contig referenceGLeu [L]3967
51004833639 rs746283870 0.000 nonsenseT1969
contig referenceCArg [R]1969
51004843640 rs770132559 0.000byFreq missenseAGln [Q]2969
contig referenceGArg [R]2969
51004863642 rs775193001 0.000 missenseGAsp [D]1970
contig referenceCHis [H]1970
51005003656 rs762526498 0.000byFreq synonymousTAla [A]3974
contig referenceCAla [A]3974
51005363692 rs768066572 0.000 synonymousCThr [T]3986
contig referenceTThr [T]3986
51005473703 rs2563388 N.D.byClusterbySubmitter missenseCSer [S]2990
contig referenceTLeu [L]2990
51005583714 rs376314007 0.000byCluster missenseGVal [V]1994
contig referenceAIle [I]1994
51005613717 rs761198190 0.000 missenseGVal [V]1995
contig referenceAIle [I]1995
51005623718 rs767538246 0.000 missenseGSer [S]2995
contig referenceTIle [I]2995
51005703726 rs370745590 0.000byCluster synonymousTLeu [L]1998
contig referenceCLeu [L]1998
51005963752 rs760611657 0.000 synonymousTAla [A]31006
contig referenceCAla [A]31006
51005973753 rs766205365 0.000 missenseCArg [R]11007
contig referenceTCys [C]11007
51006003756 rs752977527 0.000 missenseCHis [H]11008
contig referenceGAsp [D]11008
51006143770 rs2563389 0.494byClusterbyFreqbySubmitter missenseGLys [K]31012
contig referenceTAsn [N]31012
51006233779 rs777750591 0.000 synonymousCSer [S]31015
synonymousGSer [S]31015
contig referenceASer [S]31015
51006283784 rs757264790 0.000 missenseAAsn [N]21017
contig referenceGSer [S]21017
51006483804 rs781752707 0.000 missenseGAla [A]11024
contig referenceTSer [S]11024
51006713827 rs2571665 N.D.bySubmitter synonymousGThr [T]31031
contig referenceAThr [T]31031
51006773833 rs746371745 0.000 synonymousTPhe [F]31033
contig referenceCPhe [F]31033
51006783834 rs201977303 0.000byCluster missenseALys [K]11034
contig referenceGGlu [E]11034
51006843840 rs780339860 0.000 missenseTSer [S]11036
contig referenceCPro [P]11036
51006923848 rs748969709 0.000 synonymousTSer [S]31038
contig referenceCSer [S]31038
51006933849 rs768395208 0.000byFreq missenseAIle [I]11039
contig referenceGVal [V]11039
51007073863 rs373872926 0.000byClusterbyFreq synonymousAPro [P]31043
contig referenceGPro [P]31043
55010633870 rs772796257 0.000 synonymousAArg [R]11046
contig referenceCArg [R]11046
55010663873 rs746977780 0.000byFreq missenseTCys [C]11047
contig referenceCArg [R]11047
55010893896 rs771035517 0.000 synonymousGGlu [E]31054
contig referenceAGlu [E]31054
55010903897 rs776692386 0.000 missenseCArg [R]11055
contig referenceGGly [G]11055
55011053912 rs759438309 0.000 missenseGGly [G]11060
contig referenceASer [S]11060
55011193926 rs764937552 0.000 synonymousCGly [G]31064
contig referenceAGly [G]31064
55011473954 rs774637851 0.000byFreq missenseGAla [A]11074
contig referenceAThr [T]11074
55011563963 rs761885262 0.000 missenseAThr [T]11077
contig referenceTSer [S]11077
55011743981 rs767608687 0.000 missenseCArg [R]11083
contig referenceGGly [G]11083
55011743981 rs776754287 0.000 frame shift-Ala [A]11083
contig referenceGGly [G]11083
55011883995 rs750541346 0.000byFreq synonymousAGlu [E]31087
contig referenceGGlu [E]31087
55012184025 rs371397593 0.000byClusterbyFreq missenseALys [K]31097
contig referenceTAsn [N]31097
55012194026 rs766930088 0.000 missenseTCys [C]11098
contig referenceCArg [R]11098
55012224029 rs754295442 0.000 missenseGAla [A]11099
contig referenceAThr [T]11099
55012314038 rs755370692 0.000byFreq missenseAAsn [N]11102
contig referenceGAsp [D]11102
55012344041 rs779084631 0.000byFreq missenseASer [S]11103
contig referenceGGly [G]11103
55012424049 rs747856670 0.001byFreq synonymousTSer [S]31105
contig referenceCSer [S]31105
57373174132 rs765662498 0.000byFreq missenseTIle [I]21133
contig referenceCThr [T]21133
57373274142 rs753047225 0.000 synonymousCCys [C]31136
contig referenceTCys [C]31136
57373494164 rs758816598 0.000 missenseAThr [T]11144
contig referenceGAla [A]11144
57373624177 rs374229187 0.000byCluster missenseTLeu [L]21148
contig referenceCPro [P]21148
57373764191 rs751256349 0.000 missenseAAsn [N]11153
contig referenceCHis [H]11153
57373904205 rs2556893 N.D. synonymousGSer [S]31157
contig referenceASer [S]31157
57374014216 rs756832924 0.000byFreq missenseTVal [V]21161
contig referenceCAla [A]21161
57374064221 rs780510634 0.000byFreq missenseTSer [S]11163
contig referenceGAla [A]11163
57374224237 rs745841942 0.000 missenseTLeu [L]21168
contig referenceCPro [P]21168
57374364251 rs367547237 0.001 missenseAThr [T]11173
contig referenceGAla [A]11173
57374574272 rs769579808 0.000 missenseTSer [S]11180
contig referenceCPro [P]11180
57374614276 rs2556894 N.D.byCluster missenseGArg [R]21181
contig referenceCPro [P]21181
57374734288 rs780017505 0.000 missenseGSer [S]21185
contig referenceCThr [T]21185
57374794294 rs2556895 N.D.byCluster missenseCAla [A]21187
contig referenceTVal [V]21187
57374894304 rs749093646 0.000 synonymousTHis [H]31190
contig referenceCHis [H]31190
57374944309 rs768435179 0.000 missenseTLeu [L]21192
contig referenceCPro [P]21192
57375034318 rs199767661 0.000byClusterbyFreq missenseTIle [I]21195
contig referenceCThr [T]21195
57375144329 rs760825325 0.000 missenseTSer [S]11199
contig referenceGAla [A]11199
57375364351 rs771015976 0.000 missenseTLeu [L]21206
contig referenceCPro [P]21206
57375374352 rs776530531 0.000byFreq synonymousAPro [P]31206
contig referenceGPro [P]31206
57375584373 rs759626710 0.000 synonymousTHis [H]31213
contig referenceCHis [H]31213
57375714386 rs765716174 0.000 missenseGVal [V]11218
contig referenceCLeu [L]11218
57375724387 rs753237850 0.000 missenseCPro [P]21218
contig referenceTLeu [L]21218
57375764391 rs763481811 0.000 synonymousCVal [V]31219
contig referenceGVal [V]31219
57375814396 rs2556896 N.D.byCluster missenseCAla [A]21221
contig referenceGGly [G]21221
57375844399 rs375235360 0.000byCluster missenseGSer [S]21222
contig referenceCThr [T]21222
57376084423 rs201940734 0.000byClusterbyFreq missenseTLeu [L]21230
contig referenceCSer [S]21230
57376134428 rs756921050 0.000 missenseGGlu [E]11232
contig referenceCGln [Q]11232
57376764491 rs2556897 N.D. missenseCPro [P]11253
contig referenceTSer [S]11253
57376864501 rs780787247 0.000 missenseGArg [R]21256
contig referenceAGln [Q]21256
57376874502 rs749943059 0.000 synonymousAGln [Q]31256
contig referenceGGln [Q]31256
57376914506 rs372335537 0.000byClusterbyFreq missenseGVal [V]11258
contig referenceAIle [I]11258
57376954510 rs779920141 0.000 missenseTVal [V]21259
contig referenceCAla [A]21259
57377044519 rs376999125 0.000byClusterbyFreq missenseAHis [H]21262
contig referenceGArg [R]21262
57377394554 rs368730595 0.000byClusterbyFreq missenseASer [S]11274
contig referenceGGly [G]11274
57377404555 rs778627882 0.000 missenseTVal [V]21274
contig referenceGGly [G]21274
57377574572 rs2556898 N.D. missenseGAsp [D]11280
contig referenceAAsn [N]11280
57377624577 rs2556899 N.D. synonymousGGly [G]31281
contig referenceAGly [G]31281
57377854600 rs747258549 0.000 missenseGGly [G]21289
contig referenceTVal [V]21289
57377914606 rs771096096 0.000 missenseAAsp [D]21291
contig referenceGGly [G]21291
57378234638 rs776893661 0.000 missenseALys [K]11302
contig referenceGGlu [E]11302
57378424657 rs745996008 0.000byFreq missenseGGly [G]21308
contig referenceAAsp [D]21308
57378774692 rs2556900 N.D. missenseAThr [T]11320
contig referenceGAla [A]11320
57378784693 rs769917102 0.000 missenseTVal [V]21320
contig referenceCAla [A]21320
57378834698 rs199821889 0.024byClusterbyFreq missenseTCys [C]11322
contig referenceCArg [R]11322
57378854700 rs763496122 0.000 synonymousGArg [R]31322
contig referenceCArg [R]31322
57379284743 rs2556901 N.D. missenseGAla [A]11337
contig referenceAThr [T]11337
57379284743 rs36102892 N.D. missenseGAGlu [E]11337
contig referenceACThr [T]11337
57379294744 rs2556902 N.D. missenseALys [K]21337
contig referenceCThr [T]21337
57379304745 rs764575198 0.000 synonymousGThr [T]31337
contig referenceAThr [T]31337
57379314746 rs774818522 0.000 missenseTTyr [Y]11338
contig referenceCHis [H]11338
57379354750 rs867576825 N.D. missenseTLeu [L]21339
contig referenceCPro [P]21339
57379364751 rs762239108 0.000byFreq synonymousGPro [P]31339
synonymousTPro [P]31339
contig referenceCPro [P]31339

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