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dbSNP

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SNP linked to Gene (geneID:114793) 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): 10
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_011510536.2plus strandXP_011508838.1forwardNT_005403.18GRCh38.p7View snp on GeneModel
XM_011510535.2plus strandXP_011508837.1forwardNT_005403.18GRCh38.p7View snp on GeneModel
XM_011510534.1plus strandXP_011508836.1forwardNT_005403.18GRCh38.p7View snp on GeneModel
XM_011510533.2plus strandXP_011508835.1forwardNT_005403.18GRCh38.p7View snp on GeneModel
XM_011510532.2plus strandXP_011508834.1forwardNT_005403.18GRCh38.p7View snp on GeneModel
XM_011510531.1plus strandXP_011508833.1forwardNT_005403.18GRCh38.p7View snp on GeneModel
XM_011510530.1plus strandXP_011508832.1forwardNT_005403.18GRCh38.p7View snp on GeneModel
XM_005246265.3plus strandXP_005246322.1forwardNT_005403.18GRCh38.p7View snp on GeneModel
XM_005246263.2plus strandXP_005246320.1forwardNT_005403.18GRCh38.p7View snp on GeneModel
NM_052905.3plus strandNP_443137.2forwardNT_005403.18GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
XR_241279.3908, 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
152335392156 rs1434679408 N.D. -
152335474238 rs1240941349 N.D. -
152335604368 rs1190546985 N.D. missenseTLeu [L]11
contig referenceAMet [M]11
152335609373 rs1279677735 N.D. synonymousTGly [G]32
contig referenceCGly [G]32
152335612376 rs776497886 0.000byFreq synonymousTAsn [N]33
contig referenceCAsn [N]33
152335615379 rs1242841801 N.D. synonymousCAla [A]34
contig referenceAAla [A]34
152335618382 rs761306675 0.000 synonymousTGly [G]35
contig referenceGGly [G]35
152335622386 rs1264301268 N.D. missenseCLeu [L]17
contig referenceAMet [M]17
152335623387 rs769517661 0.000 missenseGArg [R]27
contig referenceTMet [M]27
152335630394 rs1350419962 N.D. synonymousTSer [S]39
contig referenceGSer [S]39
152335635399 rs1212087317 N.D. missenseCPro [P]211
contig referenceAGln [Q]211
152335636400 rs1255677138 N.D. missenseTHis [H]311
contig referenceGGln [Q]311
152335638402 rs1440961505 N.D. missenseGSer [S]212
contig referenceCThr [T]212
152335639403 rs772662268 0.000 synonymousTThr [T]312
contig referenceCThr [T]312
152335646410 rs1233596056 N.D. missenseGGly [G]115
contig referenceAArg [R]115
152335648412 rs1438996276 N.D. missenseCSer [S]315
contig referenceGArg [R]315
152335649413 rs762500117 0.000 missenseTSer [S]116
contig referenceGAla [A]116
152335650414 rs766844297 0.000 missenseAGlu [E]216
missenseTVal [V]216
contig referenceCAla [A]216
152335656420 rs201363558 0.002byClusterbyFreqWith1000GenomeData0.0050 missenseGSer [S]218
contig referenceAAsn [N]218
152335657421 rs908528089 N.D. synonymousTAsn [N]318
contig referenceCAsn [N]318
152335664428 rs1430919693 N.D. missenseGVal [V]121
contig referenceTLeu [L]121
152335666430 rs1415328135 N.D. missenseCPhe [F]321
contig referenceGLeu [L]321
152335674438 rs759936663 0.000byFreq missenseGArg [R]224
missenseTLeu [L]224
contig referenceCPro [P]224
152335675439 rs1399580598 N.D. synonymousTPro [P]324
contig referenceGPro [P]324
152335676440 rs1392811717 N.D. missenseGVal [V]125
contig referenceAMet [M]125
152335679443 rs767720706 0.000 missenseTSer [S]126
contig referenceCPro [P]126
152335682446 rs745401551 0.000byClusterbyFreq missenseALys [K]127
contig referenceGGlu [E]127
152335684448 rs1165473093 N.D. synonymousAGlu [E]327
contig referenceGGlu [E]327
152335686450 rs756237304 0.000 missenseTLeu [L]228
contig referenceCPro [P]228
152335688452 rs1041277065 N.D. missenseASer [S]129
contig referenceGGly [G]129
152335691455 rs778188018 0.000 missenseCGln [Q]130
contig referenceGGlu [E]130
152335698462 rs753935136 0.000 missenseCAla [A]232
contig referenceAGlu [E]232
152335704468 rs757477723 0.000 missenseTLeu [L]234
contig referenceGArg [R]234
152335711475 rs1032912691 N.D. synonymousAAla [A]336
contig referenceCAla [A]336
152335714478 rs1384173468 N.D. synonymousTIle [I]337
contig referenceCIle [I]337
152335716480 rs922773164 N.D. missenseCAla [A]238
contig referenceTVal [V]238
152335718482 rs566073374 0.000With1000GenomeData0.0002 missenseGVal [V]139
synonymousTLeu [L]139
contig referenceCLeu [L]139
152335720484 rs1273985126 N.D. synonymousCLeu [L]339
contig referenceGLeu [L]339
152521943485 rs1441937102 N.D. missenseCHis [H]140
contig referenceAAsn [N]140
152521945487 rs4664114 0.432byClusterbyFreqwith2hitWith1000GenomeData0.3093 synonymousCAsn [N]340
contig referenceTAsn [N]340
152521946488 rs770578373 0.000byFreq missenseAThr [T]141
missenseTSer [S]141
contig referenceGAla [A]141
152521948490 rs138926754 0.029byClusterbyFreqWith1000GenomeData0.0048 synonymousCAla [A]341
contig referenceTAla [A]341
152521950492 rs772424243 0.000 missenseCThr [T]242
contig referenceTMet [M]242
152521953495 rs776128288 0.000 missenseGSer [S]243
contig referenceAAsn [N]243
152521956498 rs1205473572 N.D. missenseCPro [P]244
contig referenceTLeu [L]244
152521960502 rs760932380 0.000 synonymousAPro [P]345
contig referenceTPro [P]345
152521961503 rs764493438 0.000 missenseTSer [S]146
contig referenceCPro [P]146
152521963505 rs777140418 0.000byFreq synonymousCPro [P]346
synonymousGPro [P]346
contig referenceTPro [P]346
152521969511 rs762086112 0.000 synonymousGLys [K]348
contig referenceALys [K]348
152521973515 rs1422684385 N.D. missenseGGly [G]150
contig referenceAArg [R]150
152521974516 rs1162112877 N.D. missenseALys [K]250
contig referenceGArg [R]250
152521981523 rs1367209215 N.D. synonymousALeu [L]352
contig referenceGLeu [L]352
152521982524 rs375469230 0.000byClusterbyFreq missenseTTrp [W]153
contig referenceCArg [R]153
152521983525 rs750447695 0.000 missenseAGln [Q]253
contig referenceGArg [R]253
152521985527 rs758548648 0.000 nonsenseT154
contig referenceCGln [Q]154
152521991533 rs1398555244 N.D. missenseAAsn [N]156
contig referenceGAsp [D]156
152521995537 rs369900467 0.000byClusterbyFreq missenseGSer [S]257
contig referenceAAsn [N]257
152521996538 rs1380196887 N.D. synonymousCAsn [N]357
contig referenceTAsn [N]357
152522005547 rs752741344 0.000 synonymousGLys [K]360
contig referenceALys [K]360
152522010552 rs756061850 0.000 missenseGGly [G]262
contig referenceAGlu [E]262
152522012554 rs1318654114 N.D. missenseGVal [V]163
contig referenceCLeu [L]163
152522022564 rs1240861802 N.D. missenseGGly [G]266
contig referenceAAsp [D]266
152542739569 rs377217657 0.000byCluster missenseCGln [Q]168
contig referenceGGlu [E]168
152542742572 rs1308398002 N.D. nonsenseT169
contig referenceCArg [R]169
152542743573 rs777087549 0.000 missenseAGln [Q]269
contig referenceGArg [R]269
152542750580 rs757464181 0.000byCluster synonymousAGln [Q]371
contig referenceGGln [Q]371
152542751581 rs370412255 0.000byCluster missenseAMet [M]172
contig referenceGVal [V]172
152542761591 rs1376882481 N.D. missenseGArg [R]275
contig referenceCPro [P]275
152542765595 rs1311243544 N.D. synonymousGPro [P]376
synonymousTPro [P]376
contig referenceCPro [P]376
152542770600 rs1031915521 N.D. missenseTIle [I]278
contig referenceCThr [T]278
152542771601 rs773552127 0.000 synonymousGThr [T]378
contig referenceAThr [T]378
152542780610 rs1014276734 N.D. synonymousGGln [Q]381
contig referenceAGln [Q]381
152542786616 rs979548717 N.D. synonymousTLeu [L]383
contig referenceCLeu [L]383
152542788618 rs1241274109 N.D. missenseGArg [R]284
contig referenceALys [K]284
152542789619 rs375236749 0.000byClusterbyFreqWith1000GenomeData0.0008 synonymousGLys [K]384
contig referenceALys [K]384
152542791621 rs766426412 0.000 missenseCAla [A]285
contig referenceGGly [G]285
152542796626 rs751599724 0.000byFreq synonymousTLeu [L]187
contig referenceCLeu [L]187
152542802632 rs1334404203 N.D. missenseTSer [S]189
contig referenceCPro [P]189
152542804634 rs1438430026 N.D. synonymousGPro [P]389
contig referenceAPro [P]389
152542805635 rs760569770 0.000 missenseCPro [P]190
contig referenceGAla [A]190
152542808638 rs764063313 0.000 missenseAIle [I]191
contig referenceGVal [V]191
152542812642 rs753595191 0.000 missenseAAsn [N]292
contig referenceCThr [T]292
152542813643 rs757107975 0.000 synonymousAThr [T]392
synonymousGThr [T]392
contig referenceCThr [T]392
152542814644 rs778413967 0.000 missenseGGly [G]193
contig referenceAArg [R]193
152542818648 rs970176205 N.D. missenseGArg [R]294
contig referenceALys [K]294
152549023652 rs950102156 N.D. missenseTAsn [N]395
contig referenceALys [K]395
152549030659 rs779622921 0.000byFreq missenseTTrp [W]198
contig referenceCArg [R]198
152549031660 rs751084506 0.000byFreq missenseAGln [Q]298
contig referenceGArg [R]298
152549032661 rs376652298 0.000byClusterbyFreq synonymousAArg [R]398
synonymousCArg [R]398
contig referenceGArg [R]398
152549033662 rs748610896 0.000byFreq missenseTCys [C]199
contig referenceCArg [R]199
152549034663 rs371265158 0.000byClusterbyFreq missenseAHis [H]299
contig referenceGArg [R]299
152549036665 rs778163177 0.000 missenseAIle [I]1100
contig referenceGVal [V]1100
152549043672 rs749642062 0.000 missenseGGly [G]2102
contig referenceAGlu [E]2102
152549043672 rs1396403206 N.D. frame shiftGIle [I]2103
contig reference-Ser [S]2103
152549047676 rs771149687 0.000 synonymousCSer [S]3103
contig referenceTSer [S]3103
152549049678 rs1406760544 N.D. missenseTIle [I]2104
contig referenceCThr [T]2104
152549056685 rs1265885452 N.D. synonymousAVal [V]3106
contig referenceGVal [V]3106
152549059688 rs774618995 0.000 synonymousGLeu [L]3107
contig referenceALeu [L]3107
152549066695 rs189416564 0.004byClusterbyFreqWith1000GenomeData0.0014 missenseGVal [V]1110
synonymousTLeu [L]1110
contig referenceCLeu [L]1110
152549080709 rs1155779 0.453byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData0.3476 synonymousALeu [L]3114
contig referenceGLeu [L]3114
152549090719 rs1394731484 N.D. missenseAAsn [N]1118
contig referenceCHis [H]1118
152558755742 rs1338135747 N.D. missenseALeu [L]3125
contig referenceTPhe [F]3125
152558767754 rs1254278973 N.D. missenseCAsp [D]3129
contig referenceAGlu [E]3129
152558768755 rs371611231 0.000byCluster missenseGAsp [D]1130
contig referenceAAsn [N]1130
152558772759 rs747106215 0.000byFreq missenseCThr [T]2131
contig referenceALys [K]2131
152558777764 rs1231127386 N.D. missenseTPhe [F]1133
contig referenceCLeu [L]1133
152558780767 rs563256351 0.000byClusterWith1000GenomeData0.0002 missenseCHis [H]1134
contig referenceGAsp [D]1134
152558788775 rs773091365 0.000 synonymousGLeu [L]3136
contig referenceALeu [L]3136
152558789776 rs376519880 0.000byCluster missenseAMet [M]1137
missenseTLeu [L]1137
contig referenceGVal [V]1137
152558794781 rs1347380563 N.D. synonymousGGlu [E]3138
contig referenceAGlu [E]3138
152558800787 rs762797613 0.000 synonymousTLeu [L]3140
contig referenceCLeu [L]3140
152558803790 rs766221413 0.000 synonymousCSer [S]3141
contig referenceASer [S]3141
152558807794 rs774295322 0.000 missenseTSer [S]1143
contig referenceGAla [A]1143
152558815802 rs1369032595 N.D. synonymousTTyr [Y]3145
contig referenceCTyr [Y]3145
152558816803 rs759227440 0.000 missenseAThr [T]1146
contig referenceGAla [A]1146
152558817804 rs369392464 0.000byClusterbyFreq missenseTVal [V]2146
contig referenceCAla [A]2146
152558818805 rs1042636769 N.D. synonymousAAla [A]3146
contig referenceGAla [A]3146
152558819806 rs201635793 0.000byClusterbyFreq missenseTLeu [L]1147
contig referenceGVal [V]1147
152558823810 rs148249353 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTIle [I]2148
contig referenceCThr [T]2148
152560892820 rs373631539 N.D.byCluster synonymousCPhe [F]3151
contig referenceTPhe [F]3151
152560894822 rs760384643 0.000byFreq missenseGGly [G]2152
contig referenceAGlu [E]2152
152560898826 rs763443633 0.000 synonymousCSer [S]3153
contig referenceTSer [S]3153
152560899827 rs753417848 0.000 missenseAMet [M]1154
contig referenceGVal [V]1154
152560905833 rs1296912884 N.D. missenseTCys [C]1156
contig referenceASer [S]1156
152560909837 rs369477672 0.000byCluster missenseTIle [I]2157
contig referenceCThr [T]2157
152560910838 rs765781840 0.000byFreq synonymousCThr [T]3157
contig referenceTThr [T]3157
152560911839 rs1323353552 N.D. missenseTLeu [L]1158
contig referenceGVal [V]1158
152560912840 rs1343864018 N.D. missenseCAla [A]2158
contig referenceTVal [V]2158
152560914842 rs750755379 0.000byFreq nonsenseT1159
missenseALys [K]1159
contig referenceGGlu [E]1159
152560915843 rs1304218102 N.D. missenseTVal [V]2159
contig referenceAGlu [E]2159
152560918846 rs866373641 N.D.byCluster missenseTIle [I]2160
contig referenceGSer [S]2160
152560920848 rs1328421741 N.D. missenseAThr [T]1161
contig referenceTSer [S]1161
152560921849 rs552822882 0.000byClusterbyFreq missenseTLeu [L]2161
contig referenceCSer [S]2161
152560922850 rs1216911994 N.D. synonymousASer [S]3161
contig referenceGSer [S]3161
152560925853 rs1267093321 N.D. GTCGCC [VA]3162
152560925853 rs1376685985 N.D. synonymousAVal [V]3162
contig referenceGVal [V]3162
152560927855 rs1357029133 N.D. missenseTVal [V]2163
contig referenceAAsp [D]2163
152560928856 rs1409481904 N.D. frame shift(11bp)Ala [A]3164
contig reference-Lys [K]3164
152560930858 rs780241974 0.000byFreq missenseGArg [R]2164
contig referenceALys [K]2164
152560930858 rs1211697449 N.D. frame shiftGCCGTPro [P]2165
contig reference-Ser [S]2165
152560932860 rs1208987668 N.D. frame shift-Lys [K]1165
contig referenceTCSer [S]1165
152560934862 rs1265086882 N.D. -3166
152560937865 rs1160154339 N.D. -Asn [N]3166
152560940868 rs1489155667 N.D. frame shift-3168
contig referenceCTGGATrp [W]3168
152560945873 rs751675473 0.000 missenseAAsn [N]2169
contig referenceGSer [S]2169
152560948876 rs1429892024 N.D. frame shift-Ile [I]2170
contig referenceGGArg [R]2170
152560950878 rs1193489184 N.D. (15bp) [LKKKT]1171
152560951879 rs1262056675 N.D. missenseGCys [C]2171
contig referenceCSer [S]2171
152560952880 rs1181282200 N.D. synonymousTSer [S]3171
contig referenceCSer [S]3171
152560955883 rs755235344 0.000byFreq synonymousTIle [I]3172
contig referenceCIle [I]3172
152560956884 rs781095062 0.000 missenseALys [K]1173
contig referenceGGlu [E]1173
152560962890 rs748284502 0.000 missenseGVal [V]1175
contig referenceCLeu [L]1175
152560967895 rs770974168 0.000 synonymousTHis [H]3176
contig referenceCHis [H]3176
152560973901 rs1163023259 N.D. synonymousAGly [G]3178
contig referenceGGly [G]3178
152560975903 rs779038308 0.000 missenseAAsn [N]2179
contig referenceGSer [S]2179
152560987915 rs1474435422 N.D. missenseTLeu [L]2183
contig referenceCSer [S]2183
152560988916 rs201715711 0.006byClusterbyFreq synonymousGSer [S]3183
contig referenceASer [S]3183
152560989917 rs200166972 0.000byClusterbyFreq missenseAThr [T]1184
missenseTSer [S]1184
contig referenceCPro [P]1184
152560999927 rs775357491 0.000byFreq missenseGSer [S]2187
contig referenceAAsn [N]2187
152561001929 rs1380584570 N.D. missenseCArg [R]1188
contig referenceASer [S]1188
152561003931 rs1314991139 N.D. synonymousCSer [S]3188
contig referenceTSer [S]3188
152561007935 rs1322253380 N.D. missenseGAla [A]1190
contig referenceTSer [S]1190
152561008936 rs925414912 N.D. missenseGCys [C]2190
contig referenceCSer [S]2190
152561010938 rs377550607 0.000byClusterbyFreq missenseASer [S]1191
missenseTCys [C]1191
contig referenceCArg [R]1191
152561011939 rs768389026 0.000byFreq missenseAHis [H]2191
missenseTLeu [L]2191
contig referenceGArg [R]2191
152561022950 rs956856369 N.D. missenseTTyr [Y]1195
contig referenceCHis [H]1195
152561023951 rs1387295980 N.D. missenseGArg [R]2195
contig referenceAHis [H]2195
152561024952 rs761362909 0.000 missenseGGln [Q]3195
contig referenceTHis [H]3195
152561026954 rs1217092722 N.D. missenseGCys [C]2196
contig referenceCSer [S]2196
152561028956 rs765720612 0.000 missenseTSer [S]1197
contig referenceGAla [A]1197
152561031959 rs1487126133 N.D. synonymousTLeu [L]1198
contig referenceCLeu [L]1198
152575136964 rs1255617187 N.D. synonymousGArg [R]3199
contig referenceAArg [R]3199
152575138966 rs1178455295 N.D. missenseGCys [C]2200
missenseTPhe [F]2200
contig referenceATyr [Y]2200
152575139967 rs1049658007 N.D. synonymousCTyr [Y]3200
contig referenceTTyr [Y]3200
152575143971 rs1465587127 N.D. missenseGAla [A]1202
contig referenceAThr [T]1202
152575144972 rs1258385889 N.D. missenseGArg [R]2202
contig referenceCThr [T]2202
152575146974 rs926434810 N.D. synonymousCLeu [L]1203
contig referenceTLeu [L]1203
152575149977 rs769226788 0.000 missenseAThr [T]1204
missenseTSer [S]1204
contig referenceCPro [P]1204
152575154982 rs1216803121 N.D. missenseGArg [R]3205
contig referenceCSer [S]3205
152575155983 rs758578386 0.000 -1207
152575159987 rs1447493733 N.D. missenseTIle [I]2207
contig referenceGArg [R]2207
152575169997 rs201093394 0.000byClusterbyFreq missenseCAsn [N]3210
contig referenceALys [K]3210
1525751771005 rs1370828379 N.D. missenseALys [K]2213
contig referenceGArg [R]2213
1525751811009 rs980636541 N.D. missenseTPhe [F]3214
contig referenceALeu [L]3214
1525751861014 rs1220774341 N.D. missenseAAsn [N]2216
contig referenceGSer [S]2216
1525751961024 rs763399880 0.000 missenseAGlu [E]3219
missenseGGlu [E]3219
contig referenceTAsp [D]3219
1525752031031 rs1311304025 N.D. missenseTTyr [Y]1222
contig referenceCHis [H]1222
1525752121040 rs1229614022 N.D. missenseGVal [V]1225
contig referenceAIle [I]1225
1525752151043 rs1221121827 N.D. missenseGVal [V]1226
contig referenceAMet [M]1226
1525752161044 rs1259507938 N.D. missenseCThr [T]2226
contig referenceTMet [M]2226
1525752241052 rs201743391 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTCys [C]1229
contig referenceCArg [R]1229
1525752251053 rs1331678296 N.D. missenseAHis [H]2229
contig referenceGArg [R]2229
1525752291057 rs774546089 0.000 synonymousTAla [A]3230
contig referenceCAla [A]3230
1525752411069 rs759990144 0.000 synonymousCTyr [Y]3234
contig referenceTTyr [Y]3234
1525752441072 rs1479834349 N.D. missenseCHis [H]3235
contig referenceGGln [Q]3235
1525788921077 rs367582555 0.000byClusterbyFreq missenseTVal [V]2237
contig referenceGGly [G]2237
1525789011086 rs1340794958 N.D. missenseCThr [T]2240
contig referenceTMet [M]2240
1525789021087 rs759810666 0.000 missenseAIle [I]3240
contig referenceGMet [M]3240
1525789031088 rs756975553 N.D. missenseTPhe [F]1241
contig referenceGVal [V]1241
1525789071092 rs1479856191 N.D. missenseCThr [T]2242
contig referenceTMet [M]2242
1525789121097 rs767869865 0.000 missenseTTyr [Y]1244
contig referenceCHis [H]1244
1525789161101 rs1230466063 N.D. missenseTLeu [L]2245
contig referenceCPro [P]2245
1525789181103 rs1291221011 N.D. missenseTTyr [Y]1246
contig referenceCHis [H]1246
1525789201105 rs16831399 0.226byClusterbyFreqWith1000GenomeData0.1428 synonymousTHis [H]3246
contig referenceCHis [H]3246
1525789211106 rs760942899 0.000 missenseAThr [T]1247
missenseTSer [S]1247
contig referenceGAla [A]1247
1525789241109 rs1288401943 N.D. missenseAIle [I]1248
contig referenceGVal [V]1248
1525789281113 rs369228340 0.000byCluster missenseGSer [S]2249
contig referenceAAsn [N]2249
1525789291114 rs753947728 0.000 synonymousCAsn [N]3249
contig referenceTAsn [N]3249
1525789321117 rs757417476 0.000 missenseTAsp [D]3250
contig referenceGGlu [E]3250
1525789341119 rs1377796393 N.D. missenseCThr [T]2251
contig referenceTIle [I]2251
1525789411126 rs1258700190 N.D. synonymousGLeu [L]3253
contig referenceALeu [L]3253
1525789441129 rs1473826415 N.D. synonymousTSer [S]3254
contig referenceCSer [S]3254
1525789541139 rs1219323730 N.D. missenseCGln [Q]1258
contig referenceALys [K]1258
1525789551140 rs1182311419 N.D. missenseGArg [R]2258
missenseTMet [M]2258
contig referenceALys [K]2258
1525789561141 rs952649959 N.D. missenseTAsn [N]3258
contig referenceGLys [K]3258
1525789631148 rs1384556735 N.D. missenseGGly [G]1261
contig referenceAArg [R]1261
1525809641158 rs1180261451 N.D. missenseTVal [V]2264
contig referenceCAla [A]2264
1525809781172 rs1380614294 N.D. missenseGVal [V]1269
synonymousTLeu [L]1269
contig referenceCLeu [L]1269
1525809801174 rs1469438161 N.D. synonymousCLeu [L]3269
contig referenceGLeu [L]3269
1525809861180 rs1156404916 N.D. synonymousGAla [A]3271
contig referenceAAla [A]3271
1525809891183 rs772490822 0.000 synonymousTAla [A]3272
contig referenceCAla [A]3272
1525809901184 rs186698342 0.000byClusterWith1000GenomeData0.0002 missenseAIle [I]1273
contig referenceGVal [V]1273
1525809971191 rs770847210 0.000 frame shift-Ser [S]2276
contig referenceTVal [V]2276
1525810071201 rs375859629 0.000byClusterbyFreq synonymousTGly [G]3278
contig referenceCGly [G]3278
1525810081202 rs1014773393 N.D. missenseAArg [R]1279
contig referenceGGly [G]1279
1525810131207 rs1179624045 N.D. missenseAGln [Q]3280
contig referenceTHis [H]3280
1525810191213 rs1020297855 N.D. synonymousTIle [I]3282
contig referenceCIle [I]3282
1525810241218 rs1333969129 N.D. missenseCSer [S]2284
contig referenceTLeu [L]2284
1525810281222 rs1329167589 N.D. synonymousGSer [S]3285
contig referenceASer [S]3285
1525810321226 rs1486442746 N.D. missenseCLeu [L]1287
contig referenceTPhe [F]1287
1525810411235 rs369124820 0.000byCluster missenseCLeu [L]1290
contig referenceTPhe [F]1290
1525810431237 rs1044784874 N.D. synonymousCPhe [F]3290
contig referenceTPhe [F]3290
1525810441238 rs1238821812 N.D. missenseGGlu [E]1291
contig referenceALys [K]1291
1525810451239 rs777060893 0.000 missenseGArg [R]2291
contig referenceALys [K]2291
1526073391244 rs371539614 0.000byCluster missenseAIle [I]1293
contig referenceGVal [V]1293
1526073441249 rs1446094656 N.D. synonymousCCys [C]3294
contig referenceTCys [C]3294
1526073521257 rs1256340753 N.D. missenseGArg [R]2297
contig referenceALys [K]2297
1526073531258 rs1296299490 N.D. missenseCAsn [N]3297
contig referenceALys [K]3297
1526073551260 rs1484802177 N.D. missenseTLeu [L]2298
contig referenceAGln [Q]2298
1526073571262 rs201721916 0.001byClusterbyFreq missenseTCys [C]1299
contig referenceCArg [R]1299
1526073581263 rs377497365 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAHis [H]2299
contig referenceGArg [R]2299
1526073721277 rs773309813 0.000byFreq missenseTLeu [L]1304
contig referenceAMet [M]1304
1526073731278 rs762989414 0.000 missenseGArg [R]2304
contig referenceTMet [M]2304
1526073761281 rs767425166 0.000 missenseGGly [G]2305
contig referenceAGlu [E]2305
1526073841289 rs567281941 0.000With1000GenomeData0.0002 missenseGGly [G]1308
contig referenceAArg [R]1308
1526073861291 rs1291165729 N.D. synonymousAArg [R]3308
contig referenceGArg [R]3308
1526073871292 rs1243801905 N.D. missenseGAsp [D]1309
contig referenceAAsn [N]1309
1526073951300 rs760606592 0.000 missenseAGlu [E]3311
synonymousTAsp [D]3311
contig referenceCAsp [D]3311
1526073971302 rs763832068 0.000 missenseGSer [S]2312
contig referenceAAsn [N]2312
1526074001305 rs753611923 0.000 missenseGSer [S]2313
contig referenceAAsn [N]2313
1526074011306 rs370334407 0.000byClusterbyFreq synonymousTAsn [N]3313
contig referenceCAsn [N]3313
1526074021307 rs1381852157 N.D. frame shift-Arg [R]1314
contig referenceATIle [I]1314
1526074111316 rs778481687 0.000 missenseGVal [V]1317
contig referenceAMet [M]1317
1526114971321 rs748500020 0.000 synonymousAVal [V]3318
contig referenceGVal [V]3318
1526115091333 rs770033772 0.000byFreq synonymousAGln [Q]3322
contig referenceGGln [Q]3322
1526115241348 rs1163386507 N.D. synonymousGVal [V]3327
contig referenceAVal [V]3327
1526115271351 rs1363940642 N.D. synonymousGVal [V]3328
contig referenceCVal [V]3328
1526115361360 rs1421818458 N.D. synonymousGVal [V]3331
contig referenceAVal [V]3331
1526115391363 rs1455646183 N.D. missenseCAsp [D]3332
contig referenceAGlu [E]3332
1526115421366 rs773361656 0.000byFreq synonymousCAsp [D]3333
contig referenceTAsp [D]3333
1526115441368 rs1384266837 N.D. missenseCThr [T]2334
contig referenceTMet [M]2334
1526115461370 rs1380635925 N.D. missenseGAsp [D]1335
contig referenceAAsn [N]1335
1526115471371 rs1314717429 N.D. missenseTIle [I]2335
contig referenceAAsn [N]2335
1526115481372 rs1383503221 N.D. synonymousCAsn [N]3335
contig referenceTAsn [N]3335
1526115491373 rs1244936514 N.D. missenseGVal [V]1336
contig referenceTPhe [F]1336
1526115551379 rs368091511 0.000byCluster missenseCLeu [L]1338
contig referenceGVal [V]1338
1526115561380 rs770926046 0.000byFreq missenseCAla [A]2338
contig referenceTVal [V]2338
1526115581382 rs1215980810 N.D. missenseTTyr [Y]1339
contig referenceCHis [H]1339
1526115601384 rs935642997 N.D. synonymousTHis [H]3339
contig referenceCHis [H]3339
1526115611385 rs1484577621 N.D. synonymousTLeu [L]1340
contig referenceCLeu [L]1340
1526115671391 rs897050528 N.D. missenseCHis [H]1342
contig referenceTTyr [Y]1342
1526115681392 rs370339645 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseGCys [C]2342
contig referenceATyr [Y]2342
1526115691393 rs912975037 N.D. synonymousCTyr [Y]3342
contig referenceTTyr [Y]3342
1526115731397 rs760569802 0.000byFreq missenseCLeu [L]1344
contig referenceTPhe [F]1344
1526115741398 rs746128413 N.D. missenseGCys [C]2344
contig referenceTPhe [F]2344
1526115771401 rs374304834 0.000byCluster missenseTIle [I]2345
contig referenceCThr [T]2345
1526115801404 rs952184054 N.D. missenseGArg [R]2346
contig referenceALys [K]2346
1526115811405 rs1383713781 N.D. synonymousGLys [K]3346
contig referenceALys [K]3346
1526115831407 rs776466747 0.000byFreq missenseCSer [S]2347
contig referenceTLeu [L]2347
1526115931417 rs35776654 0.264byClusterbyFreqWith1000GenomeData0.0519 synonymousTAsp [D]3350
synonymousTAsp [D]3350
contig referenceCAsp [D]3350
contig referenceCAsp [D]3350
1526115941418 rs372432097 0.000byClusterbyFreq missenseALys [K]1351
contig referenceGGlu [E]1351
1526115981422 rs34119671 0.010byClusterbyFreqWith1000GenomeData0.0100 missenseGCys [C]2352
missenseGCys [C]2352
missenseTPhe [F]2352
missenseTPhe [F]2352
contig referenceATyr [Y]2352
contig referenceATyr [Y]2352
1526116001424 rs1304704885 N.D. synonymousCLeu [L]1353
contig referenceTLeu [L]1353
1526116051429 rs758138299 0.000byCluster synonymousTAsp [D]3354
contig referenceCAsp [D]3354
1526148631442 rs1197409882 N.D. missenseGAla [A]1359
contig referenceAThr [T]1359
1526148651444 rs1425679331 N.D. synonymousCThr [T]3359
contig referenceTThr [T]3359
1526148661445 rs1470268047 N.D. missenseALys [K]1360
contig referenceGGlu [E]1360
1526148741453 rs759861442 N.D. synonymousTAsp [D]3362
contig referenceCAsp [D]3362
1526148761455 rs768062039 0.000 missenseGArg [R]2363
contig referenceALys [K]2363
1526148811460 rs1294277411 N.D. missenseGGlu [E]1365
contig referenceCGln [Q]1365
1526148831462 rs765497648 N.D. missenseCHis [H]3365
contig referenceAGln [Q]3365
1526148851464 rs1169677580 N.D. -2368
1526149051484 rs1015685993 N.D. missenseAAsn [N]1373
contig referenceGAsp [D]1373
1526149221501 rs753076080 0.000 synonymousGVal [V]3378
contig referenceAVal [V]3378
1526149271506 rs181223457 0.000byClusterbyFreqWith1000GenomeData0.0012 missenseTVal [V]2380
contig referenceCAla [A]2380
1526149311510 rs1303334436 N.D. synonymousGLeu [L]3381
contig referenceALeu [L]3381
1526149401519 rs777947389 0.000 synonymousCAsp [D]3384
contig referenceTAsp [D]3384
1526149471526 rs754245208 0.000 missenseGAla [A]1387
contig referenceAThr [T]1387
1526149561535 rs1279618786 N.D. missenseAThr [T]1390
contig referenceGAla [A]1390
1526149571536 rs757452855 0.000 missenseGGly [G]2390
missenseTVal [V]2390
contig referenceCAla [A]2390
1526149621541 rs1363419652 N.D. synonymousCLeu [L]1392
contig referenceTLeu [L]1392
1526149701549 rs201073201 0.000byCluster synonymousAArg [R]3394
contig referenceGArg [R]3394
1526149731552 rs745947071 0.000 synonymousAVal [V]3395
contig referenceGVal [V]3395
1526149741553 rs369249948 0.000byCluster missenseCGln [Q]1396
contig referenceGGlu [E]1396
1526149861565 rs780198308 0.000 nonsenseT1400
contig referenceGGlu [E]1400
1526149901569 rs1292735996 N.D. missenseGSer [S]2401
contig referenceAAsn [N]2401
1526149971576 rs747987070 0.000 synonymousCSer [S]3403
contig referenceTSer [S]3403
1526170941583 rs779255967 0.000 missenseCPro [P]1406
missenseGAla [A]1406
contig referenceTSer [S]1406
1526170951584 rs1159885879 N.D. missenseTPhe [F]2406
contig referenceCSer [S]2406
1526171011590 rs1296043428 N.D. missenseCThr [T]2408
contig referenceALys [K]2408
1526171051594 rs926512175 N.D. synonymousTLeu [L]3409
contig referenceGLeu [L]3409
1526171141603 rs1408322004 N.D. synonymousGThr [T]3412
contig referenceAThr [T]3412
1526171151604 rs750588432 0.000 missenseALys [K]1413
contig referenceGGlu [E]1413
1526171181607 rs758669790 0.000 missenseGAsp [D]1414
contig referenceAAsn [N]1414
1526171191608 rs1457329853 N.D. missenseGSer [S]2414
contig referenceAAsn [N]2414
1526171361625 rs1368037965 N.D. missenseTPhe [F]1420
contig referenceAIle [I]1420
1526171371626 rs764161143 0.000byFreq missenseCThr [T]2420
contig referenceTIle [I]2420
1526171381627 rs371415310 0.000byClusterbyFreq missenseGMet [M]3420
synonymousCIle [I]3420
contig referenceTIle [I]3420
1526171471636 rs1337969914 N.D. synonymousALeu [L]3423
contig referenceGLeu [L]3423
1526171521641 rs1382446555 N.D. missenseGArg [R]2425
contig referenceALys [K]2425
1526171601649 rs1450943364 N.D. missenseCLeu [L]1428
contig referenceAMet [M]1428
1526171611650 rs1281468614 N.D. missenseCThr [T]2428
contig referenceTMet [M]2428
1526171801669 rs777913298 0.000 synonymousALeu [L]3434
contig referenceGLeu [L]3434
1526171861675 rs749090031 0.000byClusterbyFreq synonymousTVal [V]3436
contig referenceCVal [V]3436
1526171871676 rs372559626 0.000byClusterbyFreq missenseAIle [I]1437
contig referenceGVal [V]1437
1526171901679 rs1487474510 N.D. missenseTTrp [W]1438
contig referenceCArg [R]1438
1526171911680 rs774299302 0.000 missenseAGln [Q]2438
contig referenceGArg [R]2438
1526171921681 rs759058159 0.000byCluster synonymousAArg [R]3438
synonymousTArg [R]3438
contig referenceGArg [R]3438
1526188471683 rs1191153767 N.D. missenseCAla [A]2439
contig referenceAGlu [E]2439
1526188531689 rs1448866465 N.D. missenseGCys [C]2441
contig referenceATyr [Y]2441
1526188541690 rs781425638 0.000 synonymousTTyr [Y]3441
contig referenceCTyr [Y]3441
1526188631699 rs1273374396 N.D. synonymousGAla [A]3444
contig referenceAAla [A]3444
1526188641700 rs1437019416 N.D. missenseGAsp [D]1445
contig referenceAAsn [N]1445
1526188651701 rs920560921 N.D. missenseCThr [T]2445
contig referenceAAsn [N]2445
1526188681704 rs1179178340 N.D. missenseGSer [S]2446
contig referenceCThr [T]2446
1526188731709 rs749177456 0.000 missenseAIle [I]1448
contig referenceGVal [V]1448
1526188751711 rs757280206 0.000 synonymousCVal [V]3448
contig referenceTVal [V]3448
1526188781714 rs778807421 0.000 missenseAGln [Q]3449
contig referenceCHis [H]3449
1526188811717 rs745727617 0.000 synonymousGThr [T]3450
contig referenceAThr [T]3450
1526188861722 rs771613134 0.000 missenseALys [K]2452
contig referenceGArg [R]2452
1526188911727 rs930663782 N.D. missenseGVal [V]1454
contig referenceAMet [M]1454
1526188981734 rs1170165908 N.D. missenseGArg [R]2456
contig referenceALys [K]2456
1526189051741 rs1397579726 N.D. synonymousGLys [K]3458
contig referenceALys [K]3458
1526189061742 rs867067184 N.D. missenseALys [K]1459
contig referenceGGlu [E]1459
1526189101746 rs775284172 0.000 missenseCAla [A]2460
contig referenceAGlu [E]2460
1526189261762 rs1306379536 N.D. synonymousAGln [Q]3465
contig referenceGGln [Q]3465
1526189281764 rs1315234689 N.D. missenseTPhe [F]2466
contig referenceCSer [S]2466
1526189311767 rs1332946107 N.D. missenseTIle [I]2467
contig referenceCThr [T]2467
1526189321768 rs1367728138 N.D. synonymousTThr [T]3467
contig referenceCThr [T]3467
1526189351771 rs1405621297 N.D. synonymousALeu [L]3468
contig referenceGLeu [L]3468
1526189371773 rs1234214378 N.D. missenseGGly [G]2469
contig referenceAGlu [E]2469
1526189401776 rs746650153 0.000 missenseGArg [R]2470
contig referenceALys [K]2470
1526189441780 rs768097912 0.000byFreq missenseTAsn [N]3471
contig referenceGLys [K]3471
1526189471783 rs1229431653 N.D. synonymousCIle [I]3472
contig referenceTIle [I]3472
1526189481784 rs1048274985 N.D. missenseGAsp [D]1473
contig referenceCHis [H]1473
1526189501786 rs1270728013 N.D. synonymousCHis [H]3473
contig referenceTHis [H]3473
1526189531789 rs1338453975 N.D. synonymousAGlu [E]3474
contig referenceGGlu [E]3474
1526189571793 rs776141977 0.000 missenseCGln [Q]1476
contig referenceGGlu [E]1476
1526189631799 rs1293454447 N.D. missenseGGlu [E]1478
contig referenceCGln [Q]1478
1526189701806 rs762270770 0.000 missenseTIle [I]2480
contig referenceCThr [T]2480
1526189741810 rs765775708 0.000byFreq synonymousAIle [I]3481
contig referenceTIle [I]3481
1526189771813 rs773425285 0.000 missenseCAsn [N]3482
contig referenceALys [K]3482
1526189821818 rs763431065 0.000 missenseGArg [R]2484
contig referenceAGln [Q]2484
1526189851821 rs1195906988 N.D. missenseGArg [R]2485
contig referenceALys [K]2485
1526189941830 rs1374195603 N.D. missenseGGly [G]2488
contig referenceAAsp [D]2488
1526189961832 rs533846319 0.000With1000GenomeData0.0002 missenseTTrp [W]1489
contig referenceGGly [G]1489
1526190041840 rs751736410 0.000byFreq synonymousTIle [I]3491
contig referenceCIle [I]3491
1526190051841 rs1367663865 N.D. missenseAThr [T]1492
contig referenceGAla [A]1492
1526190071843 rs1425471828 N.D. synonymousAAla [A]3492
contig referenceCAla [A]3492
1526190171853 rs992775600 N.D. missenseAIle [I]1496
contig referenceGVal [V]1496
1526190201856 rs1302783731 N.D. missenseAMet [M]1497
contig referenceGVal [V]1497
1526190271863 rs755261498 0.001byFreq missenseTPhe [F]2499
contig referenceCSer [S]2499
1526190291865 rs79280934 0.000byClusterbyFreq missenseCArg [R]1500
missenseTCys [C]1500
contig referenceGGly [G]1500
1526190321868 rs752852920 0.000 missenseTSer [S]1501
contig referenceAThr [T]1501
1526190331869 rs1025133270 N.D. missenseTIle [I]2501
contig referenceCThr [T]2501
1526190341870 rs377159417 0.000byCluster synonymousGThr [T]3501
contig referenceAThr [T]3501
1526190391875 rs779054834 0.000byClusterbyFreq missenseTPhe [F]2503
contig referenceCSer [S]2503
1526190411877 rs1316975690 N.D. missenseCLeu [L]1504
contig referenceAMet [M]1504
1526190421878 rs11897929 0.039byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0771 missenseCThr [T]2504
missenseCThr [T]2504
missenseCThr [T]2504
contig referenceTMet [M]2504
contig referenceTMet [M]2504
contig referenceTMet [M]2504
1526190451881 rs372473891 0.000byClusterbyFreq missenseAGlu [E]2505
contig referenceGGly [G]2505
1526190561892 rs779729989 0.000 missenseAIle [I]1509
contig referenceGVal [V]1509
1526190571893 rs746624646 0.000 missenseCAla [A]2509
contig referenceTVal [V]2509
1526190631899 rs768328922 0.000 missenseTVal [V]2511
contig referenceGGly [G]2511
1526190661902 rs1263034823 N.D. missenseTIle [I]2512
contig referenceAAsn [N]2512
1526190681904 rs776090769 0.000 missenseGAla [A]1513
contig referenceTSer [S]1513
1526190721908 rs374464644 N.D. missenseCAla [A]2514
contig referenceTVal [V]2514
1526190731909 rs1187241976 N.D. synonymousCVal [V]3514
contig referenceGVal [V]3514
1526190751911 rs1387396196 N.D. missenseCAla [A]2515
contig referenceGGly [G]2515
1526190771913 rs747707769 0.000 missenseTSer [S]1516
contig referenceCPro [P]1516
1526190811917 rs770271568 0.000 missenseTIle [I]2517
contig referenceCThr [T]2517
1526190821918 rs900364548 N.D. synonymousCThr [T]3517
contig referenceAThr [T]3517
1526190831919 rs1417104835 N.D. missenseGVal [V]1518
contig referenceAMet [M]1518
1526190851921 rs1455384811 N.D. missenseAIle [I]3518
contig referenceGMet [M]3518
1526190861922 rs773834336 0.000 missenseAArg [R]1519
contig referenceGGly [G]1519
1526190881924 rs763374188 0.000byFreq synonymousAGly [G]3519
synonymousCGly [G]3519
contig referenceGGly [G]3519
1526190891925 rs996018390 N.D. missenseTSer [S]1520
contig referenceGAla [A]1520
1526190911927 rs375095309 0.001byClusterbyFreq synonymousGAla [A]3520
synonymousTAla [A]3520
contig referenceCAla [A]3520
1526190921928 rs1338633058 N.D. missenseAThr [T]1521
contig referenceGAla [A]1521
1526190931929 rs1467314786 N.D. missenseAAsp [D]2521
contig referenceCAla [A]2521
1526190981934 rs759788402 0.000byFreq missenseAThr [T]1523
contig referenceTSer [S]1523
1526191021938 rs111739357 N.D.byCluster missenseAGlu [E]2524
contig referenceGGly [G]2524
1526191101946 rs985133235 N.D. missenseAThr [T]1527
contig referenceCPro [P]1527
1526191101946 rs1451682349 N.D. frame shift-Leu [L]1528
contig referenceCPro [P]1528
1526191111947 rs1222800548 N.D. missenseGArg [R]2527
contig referenceCPro [P]2527
1526191131949 rs1310093663 N.D. missenseGAla [A]1528
contig referenceCPro [P]1528
1526191141950 rs368735292 0.000byCluster missenseAHis [H]2528
contig referenceCPro [P]2528
1526191161952 rs1271283054 N.D. missenseTSer [S]1529
contig referenceCPro [P]1529
1526191171953 rs752814088 0.000 missenseTLeu [L]2529
contig referenceCPro [P]2529
1526191231959 rs760906377 0.000 missenseTLeu [L]2531
contig referenceCPro [P]2531
1526191291965 rs200304315 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseCPro [P]2533
contig referenceTLeu [L]2533
1526191391975 rs750320363 0.000 synonymousCSer [S]3536
contig referenceASer [S]3536
1526191491985 rs191661281 0.011byClusterbyFreqWith1000GenomeData0.0022 missenseTSer [S]1540
contig referenceCPro [P]1540
1526191521988 rs1462030153 N.D. missenseALys [K]1541
contig referenceGGlu [E]1541
1526191561992 rs779859936 0.000 missenseTIle [I]2542
contig referenceCThr [T]2542
1526195091995 rs910878698 N.D. missenseAGlu [E]2543
contig referenceTVal [V]2543
1526195142000 rs1209838801 N.D. missenseGAsp [D]1545
contig referenceAAsn [N]1545
1526195172003 rs1354626126 N.D. missenseTCys [C]1546
contig referenceGGly [G]1546
1526195202006 rs959524675 N.D. missenseGAla [A]1547
contig referenceCPro [P]1547
1526195212007 rs1254573120 N.D. missenseTLeu [L]2547
contig referenceCPro [P]2547
1526195232009 rs991019057 N.D. missenseAIle [I]1548
contig referenceGVal [V]1548
1526195272013 rs1481828703 N.D. missenseTIle [I]2549
contig referenceCThr [T]2549
1526195312017 rs1177961781 N.D. synonymousGPro [P]3550
contig referenceAPro [P]3550
1526195352021 rs1413834858 N.D. missenseCLeu [L]1552
contig referenceAMet [M]1552
1526195372023 rs751846151 0.000byFreq CCAPro [P]3573
1526195372023 rs771369634 N.D. missenseAIle [I]3552
contig referenceGMet [M]3552
1526195372023 rs1250109987 N.D. -3572
1526195382024 rs755180809 0.000byFreq -1573
1526195382024 rs1471640521 N.D. missenseAThr [T]1553
contig referenceCPro [P]1553
1526195402026 rs1342660080 N.D. synonymousGPro [P]3553
contig referenceAPro [P]3553
1526195402026 rs1343671742 N.D. CCGPro [P]3573
CTGLeu [L]3553
1526195412027 rs748162517 0.001byFreq CGTSer [S]1554
1526195412027 rs781266426 0.000 -1573
1526195422028 rs757174999 0.022byFreq GCTLeu [L]2554
1526195422028 rs1476476743 N.D. missenseTLeu [L]2554
contig referenceCPro [P]2554
1526195432029 rs778864158 0.008 CCAPro [P]3573
1526195432029 rs1257434695 N.D. synonymousAPro [P]3554
contig referenceGPro [P]3554
1526195442030 rs745757749 0.009 CGTSer [S]1555
1526195452031 rs775409840 0.008 GCTLeu [L]2555
1526195452031 rs1484634610 N.D. missenseTLeu [L]2555
contig referenceCPro [P]2555
1526195462032 rs746669363 0.001byFreq CCAPro [P]3573
1526195472033 rs1209038457 N.D. AGG [QA]1556
1526195482034 rs768355910 0.013byFreq GCTLeu [L]2556
1526195492035 rs761337109 0.029byFreq CCAPro [P]3573
1526195502036 rs1356020082 N.D. frame shiftCCCCAArg [R]1559
contig reference-Pro [P]1559
1526195522038 rs5835439 0.004byClusterbyFreqWith1000GenomeData0.0020 frame shift(7bp)Ser [S]3562
ACCThr [T]3557
CCAPro [P]3573
CCACCC [PP]3573
CCCPro [P]3573
CTALeu [L]3557
TCASer [S]3557
contig reference-Pro [P]3562
1526195522038 rs746787941 N.D. synonymousAPro [P]3557
synonymousCPro [P]3557
contig referenceGPro [P]3557
1526195532039 rs766789329 0.004byClusterbyFreq CAAThr [T]1558
1526195532039 rs773809985 0.009 -1571
1526195532039 rs1436109926 N.D. -1566
1526195542040 rs3080632 0.001byFreq frame shiftASer [S]2560
contig reference-Pro [P]2560
1526195552041 rs774744090 0.006byClusterbyFreq synonymousAPro [P]3558
synonymousTPro [P]3558
contig referenceCPro [P]3558
1526195562042 rs1368360901 N.D. missenseAThr [T]1559
contig referenceCPro [P]1559
1526195572043 rs1463300264 N.D. missenseTLeu [L]2559
contig referenceCPro [P]2559
1526195582044 rs372085475 0.016byClusterbyFreq synonymousCPro [P]3559
contig referenceTPro [P]3559
1526195582044 rs755201158 0.000byFreq frame shift-Leu [L]3560
contig reference(13bp)Pro [P]3560
1526195592045 rs1406242941 N.D. missenseTSer [S]1560
contig referenceCPro [P]1560
1526195602046 rs772422526 0.000byFreq missenseAHis [H]2560
contig referenceCPro [P]2560
1526195612047 rs775790252 0.009byFreq synonymousCPro [P]3560
contig referenceTPro [P]3560
1526195612047 rs1283434321 N.D. frame shift-His [H]3561
contig referenceTPro [P]3561
1526195642050 rs1170408943 N.D. synonymousCPro [P]3561
contig referenceAPro [P]3561
1526195652051 rs767688756 N.D. -1573
1526195672053 rs760996387 0.000 synonymousAPro [P]3562
synonymousCPro [P]3562
contig referenceTPro [P]3562
1526195682054 rs1344335876 N.D. missenseTSer [S]1563
contig referenceCPro [P]1563
1526195702056 rs1219091363 N.D. frame shift-Leu [L]3564
contig referenceTPro [P]3564
1526195732059 rs1443956988 N.D. synonymousCPro [P]3564
contig referenceTPro [P]3564
1526195742060 rs1299863408 N.D. missenseGAla [A]1565
missenseTSer [S]1565
contig referenceCPro [P]1565
1526195762062 rs1309584563 N.D. synonymousAPro [P]3565
contig referenceCPro [P]3565
1526195782064 rs764189209 0.000byFreq missenseAGln [Q]2566
contig referenceCPro [P]2566
1526195792065 rs1188085103 N.D. synonymousCPro [P]3566
contig referenceAPro [P]3566
1526195802066 rs752746827 0.000 -1571
1526195812067 rs578243842 0.001byFreqWith1000GenomeData0.0002 missenseTLeu [L]2567
contig referenceCPro [P]2567
1526195822068 rs376946129 0.001byClusterbyFreq synonymousAPro [P]3567
synonymousCPro [P]3567
synonymousTPro [P]3567
contig referenceGPro [P]3567
1526195852071 rs965380338 N.D. synonymousTPro [P]3568
contig referenceCPro [P]3568
1526195872073 rs12616778 N.D.byClusterwithHapMapFreq missenseTLeu [L]2569
contig referenceCPro [P]2569
1526195882074 rs1269611001 N.D. synonymousCPro [P]3569
contig referenceTPro [P]3569
1526195892075 rs1477757507 N.D. missenseTSer [S]1570
contig referenceCPro [P]1570
1526195902076 rs754832522 0.000byCluster missenseTLeu [L]2570
contig referenceCPro [P]2570
1526195912077 rs780967678 N.D. synonymousAPro [P]3570
contig referenceGPro [P]3570
1526195922078 rs756269494 0.000byFreq -1573
1526195942080 rs544064602 0.004byFreqWith1000GenomeData0.0022 synonymousCPro [P]3571
synonymousGPro [P]3571
contig referenceTPro [P]3571
1526195952081 rs1428860794 N.D. missenseGAla [A]1572
missenseTSer [S]1572
contig referenceCPro [P]1572
1526195962082 rs1388712327 N.D. missenseTLeu [L]2572
contig referenceCPro [P]2572
1526195972083 rs1169565563 N.D. synonymousCPro [P]3572
contig referenceTPro [P]3572
1526195982084 rs752288230 0.000byFreq missenseTSer [S]1573
contig referenceCPro [P]1573
1526196002086 rs1303386565 N.D. synonymousCPro [P]3573
contig referenceTPro [P]3573
1526196002086 rs1426103568 N.D. -3574
1526196022088 rs1364367129 N.D. missenseCPro [P]2574
contig referenceTLeu [L]2574
1526196062092 rs1292272475 N.D. synonymousCPro [P]3575
synonymousTPro [P]3575
contig referenceAPro [P]3575
1526196062092 rs1433709264 N.D. -3576
1526196072093 rs1364751636 N.D. missenseCArg [R]1576
contig referenceGGly [G]1576
1526196082094 rs1215505814 N.D. missenseCAla [A]2576
contig referenceGGly [G]2576
1526196112097 rs755743574 0.000 missenseTLeu [L]2577
contig referenceCPro [P]2577
1526196132099 rs777294293 0.000 missenseAThr [T]1578
contig referenceGAla [A]1578
1526196202106 rs563837040 0.000byFreqWith1000GenomeData0.0002 missenseCAla [A]2580
contig referenceAGlu [E]2580
1526196232109 rs1460929551 N.D. missenseTIle [I]2581
contig referenceCThr [T]2581
1526196312117 rs565900021 N.D. missenseAThr [T]1584
contig referenceGAla [A]1584
1526196342120 rs867675253 N.D.byCluster missenseTSer [S]1585
contig referenceCPro [P]1585
1526196392125 rs771444096 0.000 synonymousTPro [P]3586
contig referenceCPro [P]3586
1526196412127 rs199752373 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseCSer [S]2587
contig referenceTLeu [L]2587
1526196432129 rs201653511 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTSer [S]1588
contig referenceGAla [A]1588
1526196532139 rs1453213346 N.D. missenseCPro [P]2591
contig referenceTLeu [L]2591
1526196562142 rs1243770536 N.D. missenseGArg [R]2592
contig referenceCPro [P]2592
1526196572143 rs772511843 0.000 synonymousAPro [P]3592
contig referenceCPro [P]3592
1526196672153 rs1195188143 N.D. missenseGAla [A]1596
contig referenceCPro [P]1596
1526196682154 rs1486187455 N.D. missenseTLeu [L]2596
contig referenceCPro [P]2596
1526196692155 rs1187869405 N.D. synonymousAPro [P]3596
contig referenceGPro [P]3596
1526196782164 rs966028432 N.D. synonymousTGly [G]3599
contig referenceAGly [G]3599
1526196792165 rs1446259560 N.D. missenseGAla [A]1600
contig referenceAThr [T]1600
1526196812167 rs1048202032 N.D. synonymousGThr [T]3600
contig referenceAThr [T]3600
1526196822168 rs372057304 0.000byCluster missenseAThr [T]1601
contig referenceTSer [S]1601
1526196832169 rs1403069134 N.D. missenseATyr [Y]2601
contig referenceCSer [S]2601
1526196842170 rs559499024 0.000byFreqWith1000GenomeData0.0002 synonymousCSer [S]3601
contig referenceTSer [S]3601
1526196852171 rs768800715 0.000 missenseGAla [A]1602
contig referenceTSer [S]1602
1526196872173 rs147879641 0.005byClusterbyFreqWith1000GenomeData0.0084 synonymousGSer [S]3602
contig referenceASer [S]3602
1526196882174 rs369920196 0.000byCluster missenseGAla [A]1603
missenseTSer [S]1603
contig referenceCPro [P]1603
1526196902176 rs766334410 0.000byFreq synonymousTPro [P]3603
contig referenceCPro [P]3603
1526196922178 rs373279722 0.000byClusterbyFreq missenseTIle [I]2604
contig referenceCThr [T]2604
1526196932179 rs931810334 N.D. synonymousGThr [T]3604
contig referenceAThr [T]3604
1526196942180 rs1315957994 N.D. missenseAMet [M]1605
missenseCLeu [L]1605
contig referenceGVal [V]1605
1526196962182 rs1355994835 N.D. synonymousAVal [V]3605
contig referenceGVal [V]3605
1526196992185 rs759482602 0.000 synonymousCVal [V]3606
contig referenceTVal [V]3606
1526197062192 rs1389986418 N.D. missenseCPro [P]1609
contig referenceTSer [S]1609
1526197092195 rs1286361698 N.D. missenseAArg [R]1610
contig referenceGGly [G]1610
1526197112197 rs1317600272 N.D. synonymousGGly [G]3610
contig referenceAGly [G]3610
1526197122198 rs1207989591 N.D. synonymousCLeu [L]1611
contig referenceTLeu [L]1611
1526254492216 rs781157472 N.D.byCluster -1618
1526254502217 rs1254247966 N.D. missenseGArg [R]2617
contig referenceALys [K]2617
1526254532220 rs775239988 0.000 missenseCThr [T]2618
contig referenceALys [K]2618
1526254572224 rs1198511060 N.D. synonymousTPro [P]3619
contig referenceAPro [P]3619
1526254582225 rs760442490 0.000 missenseGVal [V]1620
contig referenceAIle [I]1620
1526254602227 rs755451829 N.D. missenseGMet [M]3620
contig referenceCIle [I]3620
1526254652232 rs1252500775 N.D. missenseTMet [M]2622
contig referenceCThr [T]2622
1526254662233 rs763794973 0.000byFreq synonymousAThr [T]3622
contig referenceGThr [T]3622
1526254692236 rs1270333384 N.D. missenseCAsn [N]3623
contig referenceGLys [K]3623
1526254702237 rs753376516 0.000 missenseGVal [V]1624
contig referenceTPhe [F]1624
1526254742241 rs756961019 0.000 missenseALys [K]2625
missenseCThr [T]2625
contig referenceGArg [R]2625
1526254752242 rs991251479 N.D. synonymousGArg [R]3625
contig referenceAArg [R]3625
1526254802247 rs764804196 0.000 missenseAGln [Q]2627
contig referenceCPro [P]2627
1526254812248 rs749994587 0.000 synonymousGPro [P]3627
contig referenceAPro [P]3627
1526254902257 rs1170077960 N.D. synonymousTAsn [N]3630
contig referenceCAsn [N]3630
1526255022269 rs527547176 0.000byFreqWith1000GenomeData0.0002 synonymousALeu [L]3634
contig referenceGLeu [L]3634
1526255102277 rs780765757 0.000 missenseGSer [S]2637
contig referenceAAsn [N]2637
1526255112278 rs747397886 0.000byFreq synonymousCAsn [N]3637
contig referenceTAsn [N]3637
1526255192286 rs755228626 0.000byFreq missenseGSer [S]2640
contig referenceAAsn [N]2640
1526255272294 rs781629276 0.000 missenseCLeu [L]1643
contig referenceGVal [V]1643
1526255342301 rs1322775780 N.D. missenseGSer [S]2645
contig referenceAAsn [N]2645
1526255402307 rs1329336365 N.D. missenseCThr [T]2647
contig referenceTIle [I]2647
1526255452312 rs1229322023 N.D. missenseCHis [H]1649
contig referenceGAsp [D]1649
1526255512318 rs748268997 0.000 nonsenseT1651
synonymousAArg [R]1651
contig referenceCArg [R]1651
1526255522319 rs770034141 0.000 missenseAGln [Q]2651
missenseTLeu [L]2651
contig referenceGArg [R]2651
1526255562323 rs1393738543 N.D. synonymousCIle [I]3652
contig referenceTIle [I]3652
1526255572324 rs777795232 0.000 synonymousTLeu [L]1653
contig referenceCLeu [L]1653
1526255592326 rs1444430589 N.D. synonymousALeu [L]3653
contig referenceGLeu [L]3653
1526265352340 rs1366753653 N.D. missenseGGly [G]2658
contig referenceTVal [V]2658
1526265382343 rs1455433258 N.D. missenseTVal [V]2659
contig referenceAAsp [D]2659
1526265522357 rs770927983 0.000byFreq missenseGVal [V]1664
contig referenceAIle [I]1664
1526265572362 rs1165950538 N.D. missenseGLeu [L]3665
contig referenceCPhe [F]3665
1526265622367 rs1387869981 N.D. missenseTIle [I]2667
contig referenceCThr [T]2667
1526265752380 rs1455443071 N.D. synonymousCGly [G]3671
contig referenceAGly [G]3671
1526265782383 rs779074777 0.000 synonymousCPro [P]3672
contig referenceTPro [P]3672
1526265792384 rs746883452 0.000 missenseAThr [T]1673
contig referenceGAla [A]1673
1526265802385 rs989663922 N.D. missenseTVal [V]2673
contig referenceCAla [A]2673
1526265832388 rs768683504 0.000 missenseCThr [T]2674
contig referenceTIle [I]2674
1526265882393 rs776268349 0.000 missenseTPhe [F]1676
contig referenceCLeu [L]1676
1526265972402 rs1228511823 N.D. missenseCArg [R]1679
missenseGGly [G]1679
contig referenceASer [S]1679
1526266072412 rs1289517374 N.D. missenseTMet [M]2682
contig referenceALys [K]2682
1526266082413 rs1329136946 N.D. missenseTAsn [N]3682
contig referenceGLys [K]3682
1526266172422 rs761758982 0.000byFreq missenseTHis [H]3685
contig referenceGGln [Q]3685
1526266202425 rs1417597046 N.D.