NCBI
dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
SNP linked to Gene (geneID:122402) 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_017020955.1plus strandXP_016876444.1forwardNT_026437.13GRCh38.p7<- currently shown
XM_011536402.2plus strandXP_011534704.1forwardNT_026437.13GRCh38.p7View snp on GeneModel
XM_011536401.2plus strandXP_011534703.1forwardNT_026437.13GRCh38.p7View snp on GeneModel
XM_011536400.2plus strandXP_011534702.1forwardNT_026437.13GRCh38.p7View snp on GeneModel
XM_011536398.2plus strandXP_011534700.1forwardNT_026437.13GRCh38.p7View snp on GeneModel
XM_011536397.2plus strandXP_011534699.1forwardNT_026437.13GRCh38.p7View snp on GeneModel
XM_006720020.3plus strandXP_006720083.1forwardNT_026437.13GRCh38.p7View snp on GeneModel
XM_006720019.3plus strandXP_006720082.1forwardNT_026437.13GRCh38.p7View snp on GeneModel
XM_005267309.3plus strandXP_005267366.1forwardNT_026437.13GRCh38.p7View snp on GeneModel
NM_153046.2plus strandNP_694591.2forwardNT_026437.13GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_026437.13XM_017020955.1XP_016876444.1forwardplus strand1300, 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
10392851031 rs1450389750 N.D. missenseGVal [V]11
contig referenceAMet [M]11
10392851132 rs1198849629 N.D. missenseCThr [T]21
contig referenceTMet [M]21
10392851233 rs1247341303 N.D. missenseTIle [I]31
contig referenceGMet [M]31
10392851334 rs9324066 0.489byClusterbyFreqWith1000GenomeData0.4609 missenseAMet [M]12
missenseGVal [V]12
synonymousTLeu [L]12
contig referenceCLeu [L]12
10392851536 rs1186864569 N.D. synonymousALeu [L]32
contig referenceGLeu [L]32
10392851637 rs780118181 0.000 missenseTTrp [W]13
contig referenceCArg [R]13
10392851738 rs1384652213 N.D. missenseAGln [Q]23
contig referenceGArg [R]23
10392851940 rs938209145 N.D. nonsenseT14
contig referenceALys [K]14
10392852344 rs1451820718 N.D. -28
10392852445 rs1056614767 N.D. synonymousTLeu [L]35
contig referenceCLeu [L]35
10392852748 rs918188433 N.D. synonymousTThr [T]36
contig referenceCThr [T]36
10392852849 rs949684666 N.D. missenseGVal [V]17
contig referenceAIle [I]17
10392853354 rs1168281728 N.D. synonymousAGlu [E]38
contig referenceGGlu [E]38
10392853556 rs1398443667 N.D. missenseCPro [P]29
contig referenceAGln [Q]29
10392854263 rs184390484 0.000With1000GenomeData0.0006 synonymousTAsn [N]311
contig referenceCAsn [N]311
10392854364 rs1425929637 N.D. missenseCHis [H]112
contig referenceGAsp [D]112
10392854465 rs1322861270 N.D. missenseGGly [G]212
contig referenceAAsp [D]212
10392855172 rs1210627871 N.D. synonymousTPhe [F]314
contig referenceCPhe [F]314
10392855273 rs1036038741 N.D. missenseGAla [A]115
contig referenceAThr [T]115
10392855374 rs897518330 N.D. missenseTIle [I]215
contig referenceCThr [T]215
10392855576 rs868220412 N.D.byCluster missenseTPhe [F]116
contig referenceAIle [I]116
10392855778 rs187691561 0.000With1000GenomeData0.0006 synonymousTIle [I]316
contig referenceCIle [I]316
10392855879 rs1294873202 N.D. missenseTCys [C]117
contig referenceGGly [G]117
10392855980 rs1412813749 N.D. missenseAAsp [D]217
missenseTVal [V]217
contig referenceGGly [G]217
10392856081 rs539463501 0.000With1000GenomeData0.0002 synonymousTGly [G]317
contig referenceCGly [G]317
10392856182 rs1364016513 N.D. missenseCGln [Q]118
contig referenceALys [K]118
10392856788 rs1421387664 N.D. missenseAMet [M]120
contig referenceGVal [V]120
10392856990 rs1228770527 N.D. synonymousAVal [V]320
contig referenceGVal [V]320
10392857495 rs549865389 0.000With1000GenomeData0.0002 missenseGSer [S]222
contig referenceAAsn [N]222
10392857899 rs1223970860 N.D. synonymousAVal [V]323
contig referenceGVal [V]323
103928581102 rs1354743538 N.D. synonymousAGlu [E]324
contig referenceGGlu [E]324
103928584105 rs1209731621 N.D. synonymousALeu [L]325
contig referenceGLeu [L]325
103928587108 rs1291257386 N.D. synonymousTLeu [L]326
contig referenceGLeu [L]326
103928590111 rs748521741 0.000 synonymousTGly [G]327
contig referenceCGly [G]327
103928596117 rs1361416518 N.D. synonymousAPro [P]329
contig referenceGPro [P]329
103928597118 rs1312631040 N.D. missenseTSer [S]130
contig referenceCPro [P]130
103928603124 rs1245198744 N.D. missenseCLeu [L]132
contig referenceTPhe [F]132
103928605126 rs1206914663 N.D. missenseGLeu [L]332
contig referenceCPhe [F]332
103928607128 rs569772232 0.000With1000GenomeData0.0002 missenseTLeu [L]233
contig referenceCPro [P]233
103928608129 rs1368228031 N.D. synonymousTPro [P]333
contig referenceGPro [P]333
103928619140 rs1049310223 N.D. missenseTVal [V]237
contig referenceCAla [A]237
103928627148 rs1426149346 N.D. missenseALys [K]140
contig referenceGGlu [E]140
103928628149 rs1458783412 N.D. missenseCAla [A]240
contig referenceAGlu [E]240
103928630151 rs1374555437 N.D. missenseAMet [M]141
contig referenceGVal [V]141
103928634155 rs1364149362 N.D. missenseGArg [R]242
contig referenceAGln [Q]242
103928638159 rs1163307088 N.D. synonymousTArg [R]343
contig referenceCArg [R]343
103928639160 rs1305360965 N.D. nonsenseT144
contig referenceCGln [Q]144
103928641162 rs1382725920 N.D. synonymousAGln [Q]344
contig referenceGGln [Q]344
103928643164 rs1180211705 N.D. missenseTVal [V]245
contig referenceAAsp [D]245
103928645166 rs538416055 0.000With1000GenomeData0.0002 missenseAMet [M]146
contig referenceGVal [V]146
103928648169 rs1007417173 N.D. missenseTSer [S]147
contig referenceGAla [A]147
103928649170 rs1471707943 N.D. frame shift-Ala [A]249
contig referenceCGly [G]249
103928653174 rs867213957 N.D. synonymousTPro [P]348
contig referenceCPro [P]348
103928656177 rs1193205009 N.D. synonymousGGly [G]349
contig referenceCGly [G]349
103928657178 rs1407615527 N.D. missenseCPro [P]150
contig referenceGAla [A]150
103928658179 rs1018834004 N.D. missenseTVal [V]250
contig referenceCAla [A]250
103928659180 rs1221491787 N.D. frame shift(14bp)Val [V]356
contig reference-Ala [A]356
103928659180 rs1291258557 N.D. synonymousGAla [A]350
contig referenceTAla [A]350
103928660181 rs965959884 N.D. missenseASer [S]151
missenseCArg [R]151
contig referenceGGly [G]151
103928661182 rs1162535637 N.D. missenseAAsp [D]251
contig referenceGGly [G]251
103928664185 rs1373499564 N.D. missenseTLeu [L]252
contig referenceCPro [P]252
103928666187 rs1395144639 N.D. frame shift-Arg [R]153
contig referenceGAla [A]153
103928667188 rs1334718097 N.D. (18bp) [LAQAPA]264
103928669190 rs1462498306 N.D. missenseCPro [P]154
contig referenceGAla [A]154
103928671192 rs1317954329 N.D. synonymousGAla [A]354
contig referenceCAla [A]354
103928674195 rs1387346332 N.D. (18bp) [LAQAPA]364
103928678199 rs1406435016 N.D. missenseTSer [S]157
contig referenceCPro [P]157
103928679200 rs1343290299 N.D. missenseAGln [Q]257
contig referenceCPro [P]257
103928680201 rs1009933383 N.D. synonymousAPro [P]357
contig referenceGPro [P]357
103928686207 rs1020950156 N.D. synonymousALeu [L]359
contig referenceGLeu [L]359
103928687208 rs968474305 N.D. missenseAThr [T]160
contig referenceGAla [A]160
103928700221 rs1157409670 N.D. missenseTVal [V]264
contig referenceCAla [A]264
103928703224 rs979526397 N.D. missenseAGln [Q]265
contig referenceGArg [R]265
103928707228 rs926720866 N.D. synonymousAPro [P]366
contig referenceGPro [P]366
103928709230 rs959509697 N.D. missenseTVal [V]267
contig referenceCAla [A]267
103928711232 rs112776471 N.D.byCluster missenseAThr [T]168
contig referenceGAla [A]168
103928714235 rs772872440 0.001byFreq missenseCPro [P]169
contig referenceGAla [A]169
103928715236 rs992290495 N.D. missenseTVal [V]269
contig referenceCAla [A]269
103928718239 rs1293679725 N.D. missenseCSer [S]270
contig referenceTPhe [F]270
103928719240 rs1319923363 N.D. missenseALeu [L]370
contig referenceCPhe [F]370
103928720241 rs1488533044 N.D. missenseCGln [Q]171
contig referenceGGlu [E]171
103928721242 rs1263567821 N.D. missenseCAla [A]271
contig referenceAGlu [E]271
103928724245 rs1203368519 N.D. missenseALys [K]272
contig referenceGArg [R]272
103955665247 rs1433696205 N.D. missenseCPro [P]173
contig referenceTSer [S]173
103955672254 rs1302157431 N.D. missenseCThr [T]275
contig referenceGSer [S]275
103955694276 rs1006283785 N.D. synonymousAGlu [E]382
contig referenceGGlu [E]382
103955705287 rs902638724 N.D. missenseGArg [R]286
contig referenceALys [K]286
103955708290 rs1371278584 N.D. frame shift-Ser [S]288
contig referenceACAGArg [R]288
103955709291 rs1318654612 N.D. nonsenseG387
synonymousTTyr [Y]387
contig referenceCTyr [Y]387
103955715297 rs1236120183 N.D. missenseTHis [H]389
contig referenceGGln [Q]389
103955718300 rs751305065 0.000 synonymousGLeu [L]390
synonymousTLeu [L]390
contig referenceCLeu [L]390
103955719301 rs757099722 0.000 missenseALys [K]191
contig referenceGGlu [E]191
103955728310 rs1448349687 N.D. missenseALys [K]194
contig referenceGGlu [E]194
103955731313 rs1196847845 N.D. missenseAIle [I]195
contig referenceCLeu [L]195
103955736318 rs766564389 0.000 synonymousCAsp [D]396
contig referenceTAsp [D]396
103955736318 rs1434572990 N.D. frame shift-Ser [S]398
contig referenceTGCys [C]398
103955739321 rs754098262 0.000byClusterbyFreq synonymousTVal [V]397
contig referenceGVal [V]397
103955740322 rs755011079 0.000byClusterbyFreq missenseGGly [G]198
contig referenceTCys [C]198
103955742324 rs1225375424 N.D. nonsenseA398
contig referenceTCys [C]398
103955743325 rs77852716 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTCys [C]199
contig referenceCArg [R]199
103955744326 rs753182841 0.000byFreq missenseAHis [H]299
missenseTLeu [L]299
contig referenceGArg [R]299
103955745327 rs1182628110 N.D. synonymousTArg [R]399
contig referenceCArg [R]399
103955748330 rs960263082 N.D. missenseAArg [R]3100
synonymousCSer [S]3100
contig referenceTSer [S]3100
103955750332 rs758827616 0.000 missenseCAla [A]2101
contig referenceTVal [V]2101
103955754336 rs1474976506 N.D. synonymousGGln [Q]3102
contig referenceAGln [Q]3102
103955756338 rs1168374601 N.D. missenseTLeu [L]2103
contig referenceCPro [P]2103
103955759341 rs989052353 N.D. missenseTIle [I]2104
contig referenceCThr [T]2104
103955760342 rs1421578775 N.D. synonymousAThr [T]3104
contig referenceCThr [T]3104
103955763345 rs1459874379 N.D. synonymousCSer [S]3105
contig referenceTSer [S]3105
103955767349 rs1324622505 N.D. missenseTSer [S]1107
contig referenceCPro [P]1107
103955769351 rs913370600 N.D. synonymousGPro [P]3107
contig referenceAPro [P]3107
103963082356 rs769286526 0.000 missenseTLeu [L]2109
contig referenceCPro [P]2109
103963085359 rs1243695080 N.D. missenseTMet [M]2110
contig referenceGArg [R]2110
103963086360 rs907632719 N.D. synonymousAArg [R]3110
contig referenceGArg [R]3110
103963088362 rs77260485 0.002byClusterbyFreqWith1000GenomeData0.0036 missenseTLeu [L]2111
contig referenceCPro [P]2111
103963089363 rs1417901761 N.D. synonymousGPro [P]3111
contig referenceAPro [P]3111
103963092366 rs762587570 0.000byFreq synonymousGSer [S]3112
contig referenceTSer [S]3112
103963105379 rs1037957116 N.D. missenseGGly [G]1117
contig referenceASer [S]1117
103963106380 rs768463139 0.000 missenseAAsn [N]2117
contig referenceGSer [S]2117
103963109383 rs1383793877 N.D. missenseAAsn [N]2118
contig referenceGSer [S]2118
103963111385 rs1343520541 N.D. missenseTLeu [L]1119
contig referenceGVal [V]1119
103963114388 rs866263452 N.D.byCluster missenseGAla [A]1120
contig referenceAThr [T]1120
103963115389 rs1382499856 N.D. missenseGArg [R]2120
missenseTMet [M]2120
contig referenceCThr [T]2120
103963116390 rs6576013 0.028byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0449 synonymousAThr [T]3120
contig referenceGThr [T]3120
103963117391 rs996484244 N.D. missenseGGly [G]1121
contig referenceTCys [C]1121
103963119393 rs1050328421 N.D. synonymousTCys [C]3121
contig referenceCCys [C]3121
103963126400 rs1414668246 N.D. missenseTTrp [W]1124
contig referenceGGly [G]1124
103963136410 rs1159140267 N.D. missenseGCys [C]2127
contig referenceATyr [Y]2127
103963137411 rs1294471041 N.D. nonsenseA3127
synonymousCTyr [Y]3127
contig referenceTTyr [Y]3127
103963138412 rs747910513 N.D. missenseGGlu [E]1128
contig referenceALys [K]1128
103963140414 rs769630396 N.D. synonymousGLys [K]3128
contig referenceALys [K]3128
103963143417 rs1226661190 N.D. nonsenseG3129
contig referenceTTyr [Y]3129
103963148422 rs1177560286 N.D. missenseCAla [A]2131
contig referenceAAsp [D]2131
103963150424 rs761563443 0.000 missenseAMet [M]1132
contig referenceTLeu [L]1132
103963155429 rs1351661270 N.D. synonymousCPro [P]3133
contig referenceTPro [P]3133
103963156430 rs1207173189 N.D. missenseGVal [V]1134
contig referenceAIle [I]1134
103963157431 rs1286055633 N.D. missenseCThr [T]2134
contig referenceTIle [I]2134
103963160434 rs1484586056 N.D. missenseAAsn [N]2135
contig referenceGSer [S]2135
103963162436 rs1187077649 N.D. nonsenseT1136
contig referenceCArg [R]1136
103963163437 rs767330991 0.000byFreq missenseAGln [Q]2136
contig referenceGArg [R]2136
103963167441 rs183636624 0.000With1000GenomeData0.0002 YesnonsenseG3137
synonymousTTyr [Y]3137
contig referenceCTyr [Y]3137
103963170444 rs909732360 N.D. synonymousALys [K]3138
contig referenceGLys [K]3138
103963171445 rs1179037983 N.D. missenseALys [K]1139
contig referenceGGlu [E]1139
103963172446 rs1362769479 N.D. missenseGGly [G]2139
contig referenceAGlu [E]2139
103965333451 rs1345400593 N.D. missenseTPhe [F]1141
contig referenceGVal [V]1141
103965340458 rs1209898681 N.D. missenseGCys [C]2143
contig referenceCSer [S]2143
103965344462 rs1280861571 N.D. missenseCPhe [F]3144
contig referenceGLeu [L]3144
103965346464 rs1350024901 N.D. missenseGArg [R]2145
contig referenceTIle [I]2145
103965348466 rs1323254659 N.D. missenseCGln [Q]1146
contig referenceGGlu [E]1146
103965349467 rs1486603007 N.D. missenseGGly [G]2146
contig referenceAGlu [E]2146
103965360478 rs752708200 0.000 missenseAMet [M]1150
contig referenceGVal [V]1150
103965365483 rs1249173976 N.D. synonymousAVal [V]3151
contig referenceGVal [V]3151
103965366484 rs1419180102 N.D. missenseGVal [V]1152
contig referenceAIle [I]1152
103965373491 rs758557110 0.000 missenseGArg [R]2154
contig referenceAHis [H]2154
103965374492 rs1392891015 N.D. synonymousCHis [H]3154
contig referenceTHis [H]3154
103965379497 rs1454055118 N.D. missenseAAsp [D]2156
contig referenceCAla [A]2156
103965380498 rs112829248 0.500 YessynonymousTAla [A]3156
contig referenceCAla [A]3156
103965382500 rs1008401582 N.D. missenseTMet [M]2157
contig referenceCThr [T]2157
103965383501 rs920010348 N.D. synonymousTThr [T]3157
contig referenceGThr [T]3157
103965384502 rs1015792660 N.D. nonsenseT1158
contig referenceGGly [G]1158
103965389507 rs540341966 0.001byFreqWith1000GenomeData0.0004 synonymousTSer [S]3159
contig referenceCSer [S]3159
103965390508 rs1292971815 N.D. missenseASer [S]1160
contig referenceGGly [G]1160
103965400518 rs1298139851 N.D. missenseAAsn [N]2163
contig referenceCThr [T]2163
103965402520 rs1397242531 N.D. nonsenseT1164
contig referenceCGln [Q]1164
103965403521 rs778115387 0.000 missenseGArg [R]2164
contig referenceAGln [Q]2164
103965404522 rs961645941 N.D. missenseCHis [H]3164
contig referenceGGln [Q]3164
103965409527 rs1324057354 N.D. missenseTLeu [L]2166
contig referenceCPro [P]2166
103965410528 rs1370519298 N.D. synonymousAPro [P]3166
contig referenceGPro [P]3166
103965411529 rs1235371525 N.D. missenseALys [K]1167
contig referenceCGln [Q]1167
103965412530 rs931465992 N.D. missenseGArg [R]2167
contig referenceAGln [Q]2167
103965414532 rs974194922 N.D. missenseCHis [H]1168
contig referenceTTyr [Y]1168
103965415533 rs1313778861 N.D. missenseTPhe [F]2168
contig referenceATyr [Y]2168
103965416534 rs1225097362 N.D. synonymousCTyr [Y]3168
contig referenceTTyr [Y]3168
103965425543 rs1250709314 N.D. frame shift-Thr [T]3172
contig referenceCHis [H]3172
103965426544 rs1027183631 N.D. missenseTTyr [Y]1172
contig referenceCHis [H]1172
103965428546 rs959354020 N.D. missenseGGln [Q]3172
contig referenceCHis [H]3172
103965429547 rs990586768 N.D. missenseCHis [H]1173
contig referenceTTyr [Y]1173
103965430548 rs767083697 N.D. missenseGCys [C]2173
contig referenceATyr [Y]2173
103965431549 rs985607626 N.D. synonymousTTyr [Y]3173
contig referenceCTyr [Y]3173
103965432550 rs752147440 0.000byFreq missenseAIle [I]1174
contig referenceGVal [V]1174
103965433551 rs1329132838 N.D. missenseGGly [G]2174
contig referenceTVal [V]2174
103965435553 rs949024093 N.D. nonsenseT1175
contig referenceCGln [Q]1175
103965438556 rs1467738407 N.D. missenseTCys [C]1176
contig referenceCArg [R]1176
103965441559 rs944277489 N.D. missenseAThr [T]1177
missenseGAla [A]1177
contig referenceTSer [S]1177
103965443561 rs201249896 0.001byClusterbyFreq YessynonymousTSer [S]3177
contig referenceCSer [S]3177
103965444562 rs1427131347 N.D. missenseAThr [T]1178
contig referenceGAla [A]1178
103965445563 rs1456261939 N.D. missenseTVal [V]2178
contig referenceCAla [A]2178
103965448566 rs1182405549 N.D. missenseGCys [C]2179
contig referenceATyr [Y]2179
103965450568 rs901502320 N.D. frame shift-Ala [A]1180
contig referenceTCys [C]1180
103965451569 rs1170296053 N.D. missenseTPhe [F]2180
contig referenceGCys [C]2180
103965453571 rs1374149604 N.D. missenseGGly [G]1181
contig referenceASer [S]1181
103965457575 rs752210666 0.000 missenseCThr [T]2182
contig referenceTIle [I]2182
103965462580 rs1323954589 N.D. missenseAIle [I]1184
contig referenceGVal [V]1184
103965471589 rs1393892937 N.D. missenseTSer [S]1187
contig referenceCPro [P]1187
103965472590 rs923834370 N.D. missenseTLeu [L]2187
contig referenceCPro [P]2187
103965474592 rs552190625 N.D.byCluster missenseTTrp [W]1188
contig referenceCArg [R]1188
103965475593 rs1328206343 N.D. missenseAGln [Q]2188
contig referenceGArg [R]2188
103965478596 rs1369402871 N.D. missenseGArg [R]2189
missenseTMet [M]2189
contig referenceALys [K]2189
103965481599 rs1380325477 N.D. missenseCThr [T]2190
contig referenceTIle [I]2190
103965490608 rs745444095 0.000 missenseAAsn [N]2193
contig referenceGSer [S]2193
103965494612 rs1294683598 N.D. synonymousTSer [S]3194
contig referenceCSer [S]3194
103965495613 rs755711777 0.000 missenseGVal [V]1195
contig referenceAIle [I]1195
103965497615 rs568864077 N.D.byCluster synonymousTIle [I]3195
contig referenceCIle [I]3195
103965498616 rs779812910 0.000 missenseAThr [T]1196
contig referenceGAla [A]1196
103965500618 rs1042098980 N.D. synonymousTAla [A]3196
contig referenceCAla [A]3196
103965511629 rs936600145 N.D. missenseTIle [I]2200
contig referenceGSer [S]2200
103965514632 rs748723054 0.000 missenseGArg [R]2201
missenseTIle [I]2201
contig referenceALys [K]2201
103965515633 rs1205450410 N.D. frame shiftT3202
contig reference-Glu [E]3202
103965519637 rs1053999387 N.D. missenseTCys [C]1203
contig referenceCArg [R]1203
103965520638 rs900354273 N.D. missenseAHis [H]2203
contig referenceGArg [R]2203
103965521639 rs1248112414 N.D. synonymousGArg [R]3203
contig referenceTArg [R]3203
103965522640 rs932690640 N.D. missenseTSer [S]1204
contig referenceGAla [A]1204
103965523641 rs1485061390 N.D. missenseTVal [V]2204
contig referenceCAla [A]2204
103965526644 rs768252154 0.001byFreq missenseCSer [S]2205
contig referenceGTrp [W]2205
103965539657 rs1262942170 N.D. synonymousCGly [G]3209
contig referenceTGly [G]3209
103965541659 rs1430786100 N.D. missenseCAla [A]2210
contig referenceTVal [V]2210
103965548666 rs1163448700 N.D. synonymousTGly [G]3212
contig referenceCGly [G]3212
103965549667 rs1433991595 N.D. ACCHis [H]1213
103965551669 rs774231117 0.000 synonymousTTyr [Y]3213
contig referenceCTyr [Y]3213
103966717681 rs1243498087 N.D. synonymousGLeu [L]3217
contig referenceALeu [L]3217
103966725689 rs570548684 N.D. missenseCThr [T]2220
contig referenceTIle [I]2220
103966731695 rs1189499381 N.D. missenseTIle [I]2222
contig referenceCThr [T]2222
103966735699 rs773998262 0.000 GACAsp [D]3224
103966735699 rs1027913393 N.D. synonymousAGlu [E]3223
contig referenceGGlu [E]3223
103966736700 rs752051282 0.000 missenseTTyr [Y]1224
contig referenceGAsp [D]1224
103966737701 rs1307285178 N.D. missenseGGly [G]2224
contig referenceAAsp [D]2224
103966742706 rs1356227593 N.D. missenseGGly [G]1226
contig referenceAArg [R]1226
103966752716 rs1209182132 N.D. missenseGCys [C]2229
contig referenceATyr [Y]2229
103966754718 rs1280149493 N.D. missenseGVal [V]1230
contig referenceAMet [M]1230
103966760724 rs142035530 0.006byClusterbyFreqWith1000GenomeData YesmissenseGAla [A]1232
contig referenceAThr [T]1232
103966762726 rs1182631269 N.D. synonymousCThr [T]3232
contig referenceTThr [T]3232
103966771735 rs1212911594 N.D. synonymousALeu [L]3235
contig referenceGLeu [L]3235
103966777741 rs1115148 0.000byCluster YessynonymousAGln [Q]3237
contig referenceGGln [Q]3237
103966781745 rs1023293575 N.D. missenseGVal [V]1239
contig referenceAIle [I]1239
103966782746 rs765353898 0.000byClusterbyFreq frame shift-Pro [P]2241
contig referenceTAGTSer [S]2241
103966782746 rs1372682552 N.D. missenseGArg [R]2239
contig referenceTIle [I]2239
103966785749 rs1469712571 N.D. CCCPro [P]2240
103966794758 rs916549146 N.D. missenseGArg [R]2243
contig referenceALys [K]2243
103966801765 rs1382410617 N.D. missenseTPhe [F]3245
contig referenceGLeu [L]3245
103966803767 rs982267637 N.D. missenseALys [K]2246
missenseCThr [T]2246
contig referenceTMet [M]2246
103966806770 rs1171512069 N.D. missenseGGly [G]2247
contig referenceAGlu [E]2247
103966807771 rs948043977 N.D. synonymousGGlu [E]3247
contig referenceAGlu [E]3247
103966815779 rs1266748375 N.D. missenseGArg [R]2250
contig referenceAHis [H]2250
103966817781 rs545886073 0.001byFreqWith1000GenomeData0.0004 missenseGVal [V]1251
contig referenceAIle [I]1251
103966818782 rs1435223330 N.D. missenseCThr [T]2251
contig referenceTIle [I]2251
103966819783 rs865996889 N.D. synonymousTIle [I]3251
contig referenceCIle [I]3251
103966823787 rs768082138 0.000 -1253
103970541796 rs373902320 0.000byClusterbyFreq YesmissenseAIle [I]1256
contig referenceGVal [V]1256
103970546801 rs533342199 0.004byFreqWith1000GenomeData0.0008 synonymousTHis [H]3257
contig referenceCHis [H]3257
103970547802 rs376816009 0.000byCluster YesmissenseALys [K]1258
contig referenceGGlu [E]1258
103970550805 rs776156806 0.000 nonsenseT1259
synonymousAArg [R]1259
contig referenceCArg [R]1259
103970551806 rs774726165 N.D. frame shift-Arg [R]2260
contig referenceGAACAThr [T]2260
103970551806 rs867801627 N.D.byCluster missenseTLeu [L]2259
contig referenceGArg [R]2259
103970558813 rs746748168 0.000 synonymousGGlu [E]3261
contig referenceAGlu [E]3261
103970564819 rs944742285 N.D. missenseAIle [I]3263
contig referenceGMet [M]3263
103970570825 rs1439058280 N.D. synonymousTPhe [F]3265
contig referenceCPhe [F]3265
103970576831 rs1268861364 N.D. synonymousGLeu [L]3267
contig referenceALeu [L]3267
103970579834 rs770787877 0.000 missenseTPhe [F]3268
contig referenceGLeu [L]3268
103970584839 rs1215723575 N.D. missenseGGly [G]2270
contig referenceTVal [V]2270
103970586841 rs576790084 0.000byClusterbyFreq missenseTCys [C]1271
contig referenceCArg [R]1271
103970587842 rs747643848 N.D. missenseAHis [H]2271
contig referenceGArg [R]2271
103970588843 rs1479593910 N.D. synonymousTArg [R]3271
contig referenceCArg [R]3271
103970594849 rs11851097 0.461byClusterbyFreqwithHapMapFreqWith1000GenomeData0.3514 YessynonymousTLeu [L]3273
contig referenceCLeu [L]3273
103970595850 rs1196971698 N.D. missenseGVal [V]1274
contig referenceTLeu [L]1274
103970597852 rs1260789323 N.D. -3275
103970602857 rs1253877392 N.D. missenseALys [K]2276
contig referenceCThr [T]2276
103970604859 rs1264225560 N.D. missenseTTyr [Y]1277
contig referenceAAsn [N]1277
103970608863 rs946844740 N.D. nonsenseG2278
contig referenceCSer [S]2278
103970610865 rs764207166 0.000byFreq missenseTCys [C]1279
contig referenceCArg [R]1279
103970611866 rs1043899460 N.D. missenseAHis [H]2279
missenseCPro [P]2279
contig referenceGArg [R]2279
103970618873 rs905391862 N.D. synonymousAVal [V]3281
contig referenceGVal [V]3281
103970621876 rs1475029533 N.D. synonymousALys [K]3282
contig referenceGLys [K]3282
103975393881 rs777644145 0.000 missenseCAla [A]2284
contig referenceTVal [V]2284
103975394882 rs376815563 0.000byClusterbyFreq YessynonymousTVal [V]3284
contig referenceCVal [V]3284
103975397885 rs1186595213 N.D. synonymousCLeu [L]3285
contig referenceGLeu [L]3285
103975398886 rs770570537 0.000 missenseTLeu [L]1286
contig referenceAMet [M]1286
103975401889 rs778564549 N.D. missenseAThr [T]1287
contig referenceTSer [S]1287
103975402890 rs776493794 0.000byCluster missenseTLeu [L]2287
contig referenceCSer [S]2287
103975403891 rs895475142 N.D. synonymousASer [S]3287
contig referenceGSer [S]3287
103975414902 rs761057100 0.000 frame shiftCCGAArg [R]2292
contig reference-Cys [C]2292
103975416904 rs764330948 0.000byFreq frame shift-1292
contig referenceTGCys [C]1292
103975417905 rs1052690879 N.D. missenseATyr [Y]2292
contig referenceGCys [C]2292
103975419907 rs146221034 0.000byClusterbyFreqWith1000GenomeData YesmissenseGGlu [E]1293
contig referenceALys [K]1293
103975424912 rs113578132 0.500byCluster YessynonymousAGlu [E]3294
contig referenceGGlu [E]3294
103975431919 rs1041598978 N.D. missenseCHis [H]1297
contig referenceGAsp [D]1297
103975432920 rs368302018 0.000byClusterbyFreq YesmissenseGGly [G]2297
contig referenceAAsp [D]2297
103975436924 rs555873387 0.000With1000GenomeData0.0002 synonymousTTyr [Y]3298
contig referenceCTyr [Y]3298
103975441929 rs761955277 0.000 missenseTVal [V]2300
contig referenceCAla [A]2300
103975443931 rs767738290 0.000byFreq missenseCLeu [L]1301
contig referenceGVal [V]1301
103975446934 rs754135271 0.000 frame shift-Leu [L]1302
contig referenceCPro [P]1302
103975447935 rs570280367 N.D. missenseGArg [R]2302
contig referenceCPro [P]2302
103975449937 rs147103471 0.003byClusterbyFreqWith1000GenomeData0.0012 YesmissenseCLeu [L]1303
contig referenceGVal [V]1303
103975457945 rs1349602596 N.D. synonymousTAsn [N]3305
contig referenceCAsn [N]3305
103975458946 rs761259148 0.000 missenseGGlu [E]1306
contig referenceALys [K]1306
103975458946 rs1374434964 N.D. frame shift-Arg [R]1306
contig referenceALys [K]1306
103975467955 rs766862372 0.000 missenseTSer [S]1309
contig referenceCPro [P]1309
103975472960 rs1484639218 N.D. synonymousGAla [A]3310
contig referenceAAla [A]3310
103975473961 rs764483040 0.000byFreq missenseCHis [H]1311
contig referenceTTyr [Y]1311
103975474962 rs1256197422 N.D. missenseGCys [C]2311
contig referenceATyr [Y]2311
103975478966 rs759942277 0.000byFreq missenseGMet [M]3312
contig referenceTIle [I]3312
103975486974 rs764836410 0.000 missenseCAla [A]2315
contig referenceTVal [V]2315
103975489977 rs900546624 N.D. missenseTVal [V]2316
contig referenceAGlu [E]2316
103975491979 rs752375781 0.000 missenseASer [S]1317
contig referenceGGly [G]1317
103975497985 rs757851866 0.000byFreq missenseTSer [S]1319
contig referenceCPro [P]1319
103975501989 rs777345747 0.000 missenseGArg [R]2320
contig referenceAHis [H]2320
103975502990 rs751382472 0.000 synonymousCHis [H]3320
contig referenceTHis [H]3320
103975509997 rs202227961 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseALys [K]1323
contig referenceGGlu [E]1323
1039755121000 rs781052398 0.000byFreq missenseALys [K]1324
contig referenceGGlu [E]1324
1039755131001 rs1186203107 N.D. missenseGGly [G]2324
contig referenceAGlu [E]2324
1039755161004 rs745657639 0.000 missenseGCys [C]2325
contig referenceATyr [Y]2325
1039755181006 rs1001273244 N.D. missenseCHis [H]1326
contig referenceTTyr [Y]1326
1039755221010 rs1259928476 N.D. missenseCPro [P]2327
contig referenceTLeu [L]2327
1039755261014 rs1328351238 N.D. missenseALys [K]3328
contig referenceTAsn [N]3328
1039755311019 rs1377912975 N.D. missenseCSer [S]2330
contig referenceTLeu [L]2330
1039755331021 rs148146338 0.000byClusterbyFreq YesmissenseALys [K]1331
contig referenceGGlu [E]1331
1039755351023 rs1311146071 N.D. synonymousAGlu [E]3331
contig referenceGGlu [E]3331
1039755371025 rs1345509469 N.D. missenseGArg [R]2332
contig referenceAHis [H]2332
1039755381026 rs1232383836 N.D. synonymousTHis [H]3332
contig referenceCHis [H]3332
1039755391027 rs779238866 0.000byFreq missenseGVal [V]1333
contig referenceAIle [I]1333
1039755421030 rs748404724 0.000 missenseAAsn [N]1334
contig referenceCHis [H]1334
1039755431031 rs772221455 0.000byFreq missenseGArg [R]2334
contig referenceAHis [H]2334
1039755441032 rs773346112 0.000 synonymousCHis [H]3334
contig referenceTHis [H]3334
1039862191044 rs746384218 0.000 synonymousTLeu [L]3338
contig referenceCLeu [L]3338
1039862201045 rs1222239831 N.D. missenseCPro [P]1339
contig referenceTSer [S]1339
1039862211046 rs1363253717 N.D. missenseTPhe [F]2339
contig referenceCSer [S]2339
1039862241049 rs770073563 0.000byClusterbyFreq missenseAHis [H]2340
contig referenceCPro [P]2340
1039862271052 rs150241317 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGArg [R]2341
contig referenceAHis [H]2341
1039862291054 rs1438713523 N.D. missenseGVal [V]1342
contig referenceCLeu [L]1342
1039862331058 rs763370990 0.000 missenseGArg [R]2343
contig referenceTLeu [L]2343
1039862371062 rs750435486 0.000 frame shift-Asn [N]3345
contig referenceGGlu [E]3345
1039862401065 rs901779013 N.D. missenseCAsp [D]3345
contig referenceAGlu [E]3345
1039862421067 rs763784398 0.000byFreq missenseAGln [Q]2346
missenseTLeu [L]2346
contig referenceCPro [P]2346
1039862431068 rs761349101 0.000byClusterbyFreq synonymousAPro [P]3346
synonymousCPro [P]3346
contig referenceGPro [P]3346
1039862441069 rs766960484 0.000byFreq missenseAMet [M]1347
missenseTLeu [L]1347
contig referenceGVal [V]1347
1039862531078 rs1485111561 N.D. missenseGGlu [E]1350
contig referenceALys [K]1350
1039862551080 rs1216456241 N.D. synonymousALys [K]3350
contig referenceGLys [K]3350
1039862571082 rs756125942 0.000 missenseGGly [G]2351
contig referenceAAsp [D]2351
1039862581083 rs766492220 0.000 synonymousCAsp [D]3351
contig referenceTAsp [D]3351
1039862591084 rs753664500 0.000 missenseGVal [V]1352
contig referenceAIle [I]1352
1039862631088 rs373013784 0.000byClusterbyFreq YesmissenseGCys [C]2353
missenseTPhe [F]2353
contig referenceATyr [Y]2353
1039862691094 rs754769480 0.000 missenseAAsp [D]2355
contig referenceTVal [V]2355
1039862731098 rs1167211700 N.D. synonymousCAla [A]3356
contig referenceTAla [A]3356
1039862741099 rs1351352956 N.D. missenseCLeu [L]1357
contig referenceGVal [V]1357
1039862781103 rs778015721 0.000 missenseGCys [C]2358
contig referenceCSer [S]2358
1039862791104 rs747216441 0.000 synonymousASer [S]3358
contig referenceTSer [S]3358
1039862821107 rs1361074374 N.D. synonymousTLeu [L]3359
contig referenceCLeu [L]3359
1039862831108 rs1401822577 N.D. missenseCLeu [L]1360
contig referenceAIle [I]1360
1039862851110 rs1290871552 N.D. missenseGMet [M]3360
contig referenceTIle [I]3360
1039862881113 rs1172582548 N.D. missenseCHis [H]3361
contig referenceGGln [Q]3361
1039862911116 rs757301272 0.000 missenseAIle [I]3362
contig referenceGMet [M]3362
1039862961121 rs781249979 0.000byFreq missenseGGly [G]2364
missenseTVal [V]2364
contig referenceAAsp [D]2364
1039863031128 rs10143389 0.458byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.3221 YesmissenseCPhe [F]3366
synonymousALeu [L]3366
contig referenceGLeu [L]3366
1039863041129 rs1315438030 N.D. missenseTTyr [Y]1367
contig referenceGAsp [D]1367
1039863081133 rs540412831 0.005byClusterbyFreqWith1000GenomeData0.0050 missenseCThr [T]2368
contig referenceTMet [M]2368
1039863171142 rs1287257822 N.D. missenseAAsn [N]2371
contig referenceGSer [S]2371
1039863191144 rs563833853 0.000With1000GenomeData0.0002 missenseAArg [R]1372
contig referenceGGly [G]1372
1039911631149 rs1212321007 N.D. missenseALys [K]3373
missenseGLys [K]3373
contig referenceCAsn [N]3373
1039911651151 rs1358925679 N.D. missenseGArg [R]2374
contig referenceALys [K]2374
1039911661152 rs370783691 0.000byClusterbyFreq YessynonymousALys [K]3374
contig referenceGLys [K]3374
1039911671153 rs749784790 0.000 missenseTSer [S]1375
contig referenceGAla [A]1375
1039911741160 rs1179531698 N.D. missenseTLeu [L]2377
contig referenceCSer [S]2377
1039911771163 rs1275444344 N.D. missenseAGlu [E]2378
contig referenceGGly [G]2378
1039911781164 rs1238512858 N.D. synonymousAGly [G]3378
contig referenceGGly [G]3378
1039911801166 rs769008555 0.000 missenseAAsp [D]2379
contig referenceCAla [A]2379
1039911811167 rs779152292 0.000 synonymousTAla [A]3379
contig referenceCAla [A]3379
1039911851171 rs748613387 0.000 missenseGVal [V]1381
contig referenceTPhe [F]1381
1039911911177 rs1309244313 N.D. missenseAMet [M]1383
contig referenceTLeu [L]1383
1039911971183 rs377183290 0.000byClusterbyFreq YesnonsenseT1385
missenseGGly [G]1385
contig referenceCArg [R]1385
1039911981184 rs1177572273 N.D. missenseAGln [Q]2385
contig referenceGArg [R]2385
1039912051191 rs1381477679 N.D. synonymousCSer [S]3387
contig referenceTSer [S]3387
1039912181204 rs773037929 0.000 synonymousCLeu [L]1392
contig referenceTLeu [L]1392
1039912211207 rs868361617 N.D.byCluster missenseTSer [S]1393
contig referenceCPro [P]1393
1039912221208 rs760223183 0.000 missenseTLeu [L]2393
contig referenceCPro [P]2393
1039912231209 rs770585787 0.000 synonymousGPro [P]3393
contig referenceAPro [P]3393
1039943321211 rs1209507780 N.D. frame shift(7bp)Phe [F]2395
contig reference-Leu [L]2395
1039943451224 rs991903604 N.D. synonymousTIle [I]3398
contig referenceAIle [I]3398
1039943511230 rs1288828461 N.D. nonsenseG3400
contig referenceTTyr [Y]3400
1039943521231 rs769592233 0.000byFreq missenseCLeu [L]1401
contig referenceAMet [M]1401
1039943541233 rs1223598163 N.D. missenseAIle [I]3401
contig referenceGMet [M]3401
1039943591238 rs1359412982 N.D. missenseGGly [G]2403
contig referenceAGlu [E]2403
1039943631242 rs775541599 0.000byFreq synonymousALeu [L]3404
synonymousCLeu [L]3404
contig referenceTLeu [L]3404
1039943681247 rs1477492723 N.D. missenseGArg [R]2406
contig referenceCThr [T]2406
1039943701249 rs1193738904 N.D. missenseGGly [G]1407
contig referenceASer [S]1407
1039943711250 rs532840789 N.D.byCluster missenseTIle [I]2407
contig referenceGSer [S]2407
1039943721251 rs567369483 0.000With1000GenomeData0.0002 synonymousTSer [S]3407
contig referenceCSer [S]3407
1039943751254 rs763901531 0.000 synonymousALeu [L]3408
contig referenceGLeu [L]3408
1039943841263 rs750588774 0.000 missenseCAsn [N]3411
synonymousGLys [K]3411
contig referenceALys [K]3411
1039945191266 rs1297136872 N.D. synonymousAArg [R]3412
contig referenceGArg [R]3412
1039945261273 rs756953745 0.000byFreq missenseAIle [I]1415
missenseTPhe [F]1415
contig referenceGVal [V]1415
1039945281275 rs1490052512 N.D. synonymousGVal [V]3415
contig referenceCVal [V]3415
1039945301277 rs930829623 N.D. missenseGCys [C]2416
contig referenceATyr [Y]2416
1039945331280 rs541342363 0.000With1000GenomeData0.0002 missenseTLeu [L]2417
contig referenceCPro [P]2417
1039945341281 rs1207422304 N.D. synonymousTPro [P]3417
contig referenceAPro [P]3417
1039945371284 rs1420794766 N.D. synonymousTLeu [L]3418
contig referenceCLeu [L]3418
1039945431290 rs769382355 0.000byFreq synonymousCSer [S]3420
contig referenceASer [S]3420
1039945441291 rs1260548780 N.D. missenseGGly [G]1421
contig referenceASer [S]1421
1039945501297 rs1400082637 N.D. missenseTSer [S]1423
contig referenceGAla [A]1423
1039945511298 rs1395528606 N.D. missenseAAsp [D]2423
contig referenceCAla [A]2423
1039945661313 rs1335008348 N.D. missenseGSer [S]2428
contig referenceAAsn [N]2428
1039945721319 rs1342472463 N.D. missenseGGly [G]2430
contig referenceTVal [V]2430
1039945741321 rs775245117 0.000 missenseGVal [V]1431
contig referenceTPhe [F]1431
1039945781325 rs1234211184 N.D. nonsenseG2432
contig referenceTLeu [L]2432
1039945811328 rs1306759623 N.D. missenseAAsn [N]2433
contig referenceGSer [S]2433
1039945901337 rs1325869846 N.D. missenseTLeu [L]2436
contig referenceCPro [P]2436
1039945931340 rs1352745082 N.D. missenseTVal [V]2437
contig referenceGGly [G]2437
1039945941341 rs749240440 0.000 synonymousAGly [G]3437
contig referenceGGly [G]3437
1039945971344 rs1288086127 N.D. synonymousTTyr [Y]3438
contig referenceCTyr [Y]3438
1039945981345 rs768374091 0.000 missenseGGly [G]1439
synonymousCArg [R]1439
contig referenceAArg [R]1439
1039946001347 rs1199378573 N.D. missenseTSer [S]3439
contig referenceAArg [R]3439
1039957511352 rs747908241 0.000 missenseCThr [T]2441
contig referenceTIle [I]2441
1039957521353 rs1306012726 N.D. synonymousCIle [I]3441
contig referenceTIle [I]3441
1039957551356 rs948517444 N.D. synonymousCIle [I]3442
contig referenceTIle [I]3442
1039957561357 rs550565959 0.000byFreqWith1000GenomeData0.0004 synonymousTLeu [L]1443
contig referenceCLeu [L]1443
1039957581359 rs776659312 0.000 synonymousALeu [L]3443
contig referenceGLeu [L]3443
1039957591360 rs907121084 N.D. missenseCPro [P]1444
contig referenceTSer [S]1444
1039957611362 rs567247215 0.001byFreqWith1000GenomeData0.0010 synonymousASer [S]3444
contig referenceCSer [S]3444
1039957631364 rs1251976833 N.D. missenseTIle [I]2445
contig referenceCThr [T]2445
1039957641365 rs765443707 0.000 synonymousTThr [T]3445
contig referenceCThr [T]3445
1039957661367 rs768943302 N.D.byCluster missenseGSer [S]2446
contig referenceAAsn [N]2446
1039957711372 rs1318137849 N.D. missenseTSer [S]1448
contig referenceGAla [A]1448
1039957731374 rs777418394 0.000 frame shift-Phe [F]3450
contig referenceAGSer [S]3450
1039957751376 rs775695923 0.000 missenseCAla [A]2449
contig referenceAGlu [E]2449
1039957851386 rs1446828986 N.D. synonymousTVal [V]3452
contig referenceCVal [V]3452
1039957871388 rs368949831 0.000byCluster YesmissenseTIle [I]2453
contig referenceCThr [T]2453
1039957921393 rs764661057 0.000 missenseTSer [S]1455
contig referenceCPro [P]1455
1039957951396 rs752139573 0.000 missenseCHis [H]1456
contig referenceGAsp [D]1456
1039958011402 rs757650263 0.000 missenseGGlu [E]1458
contig referenceALys [K]1458
1039986271412 rs1386905393 N.D. missenseCThr [T]2461
contig referenceTIle [I]2461
1039986281413 rs1417744649 N.D. missenseGMet [M]3461
contig referenceAIle [I]3461
1039986361421 rs760994181 0.000 missenseATyr [Y]2464
contig referenceGCys [C]2464
1039986521437 rs765986919 0.000 missenseCPhe [F]3469
contig referenceGLeu [L]3469
1039986551440 rs1231534343 N.D. synonymousGVal [V]3470
synonymousTVal [V]3470
contig referenceCVal [V]3470
1039986571442 rs1292656382 N.D. missenseATyr [Y]2471
contig referenceGCys [C]2471
1039986651450 rs1016706340 N.D. missenseAAsn [N]1474
contig referenceGAsp [D]1474
1039986711456 rs142455392 0.000byCluster YesmissenseGAsp [D]1476
contig referenceAAsn [N]1476
1039986731458 rs754425363 0.000byFreq synonymousCAsn [N]3476
contig referenceTAsn [N]3476
1039986731458 rs778582537 0.000 frame shift-Ile [I]3477
contig referenceTTyr [Y]3477
1039986771462 rs745320696 0.000 frame shift-Glu [E]1478
contig referenceCAGln [Q]1478
1039986781463 rs1375311123 N.D. missenseGArg [R]2478
contig referenceAGln [Q]2478
1039986791464 rs778397147 0.000 missenseCHis [H]3478
contig referenceGGln [Q]3478
1039986821467 rs145952013 0.000byCluster YessynonymousCSer [S]3479
contig referenceTSer [S]3479
1039986861471 rs1440969065 N.D. synonymousAArg [R]1481
contig referenceCArg [R]1481
1039986871472 rs531774714 0.000byFreqWith1000GenomeData0.0002 missenseAGln [Q]2481
contig referenceGArg [R]2481
1039986901475 rs1287378347 N.D. missenseCSer [S]2482
contig referenceTLeu [L]2482
1039986931478 rs1319326484 N.D. missenseAAsn [N]2483
missenseTIle [I]2483
contig referenceGSer [S]2483
1039987001485 rs10133836 0.035byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0583 YessynonymousCAla [A]3485
contig referenceTAla [A]3485
1039987021487 rs1417766051 N.D. missenseGCys [C]2486
contig referenceCSer [S]2486
1039987051490 rs1255538586 N.D. missenseGArg [R]2487
contig referenceALys [K]2487
1039987071492 rs372115265 0.000byCluster YesmissenseGAla [A]1488
contig referenceAThr [T]1488
1039987171502 rs770660542 0.000byFreq missenseGSer [S]2491
contig referenceAAsn [N]2491
1039987241509 rs780371204 0.000 synonymousGArg [R]3493
contig referenceAArg [R]3493
1039987251510 rs749537818 0.000 missenseCGln [Q]1494
contig referenceALys [K]1494
1039987261511 rs201459983 0.000byClusterWith1000GenomeData0.0002 YesmissenseGArg [R]2494
contig referenceALys [K]2494
1039987271512 rs1177848393 N.D. synonymousGLys [K]3494
contig referenceALys [K]3494
1039987281513 rs774571489 0.000 missenseCArg [R]1495
contig referenceGGly [G]1495
1040042381514 rs755241359 0.000 missenseCAla [A]2495
contig referenceGGly [G]2495
1040042391515 rs779328575 0.000 synonymousTGly [G]3495
contig referenceCGly [G]3495
1040042401516 rs748229083 0.000 missenseTCys [C]1496
contig referenceCArg [R]1496
1040042411517 rs772077271 0.000 missenseAHis [H]2496
contig referenceGArg [R]2496
1040042421518 rs1214262266 N.D. synonymousGArg [R]3496
contig referenceTArg [R]3496
1040042451521 rs996068752 N.D. synonymousCAla [A]3497
contig referenceTAla [A]3497
1040042481524 rs1028920764 N.D. synonymousGGly [G]3498
contig referenceAGly [G]3498
1040042491525 rs890413209 N.D. nonsenseT1499
contig referenceCArg [R]1499
1040042501526 rs773721878 0.000 missenseAGln [Q]2499
contig referenceGArg [R]2499
1040042541530 rs1369000154 N.D. synonymousAVal [V]3500
contig referenceGVal [V]3500
1040042581534 rs747474077 0.000 missenseGGly [G]1502
contig referenceAArg [R]1502
1040042591535 rs141852245 0.000byClusterbyFreq YesmissenseCThr [T]2502
contig referenceGArg [R]2502
1040042601536 rs776966060 0.000byFreq missenseTSer [S]3502
contig referenceAArg [R]3502
1040042611537 rs1031497311 N.D. missenseCArg [R]1503
contig referenceGGly [G]1503
1040042631539 rs904701035 N.D. synonymousAGly [G]3503
contig referenceGGly [G]3503
1040042651541 rs144585440 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCSer [S]2504
missenseGCys [C]2504
contig referenceATyr [Y]2504
1040042691545 rs764834432 0.000 synonymousCCys [C]3505
contig referenceTCys [C]3505
1040042721548 rs775032696 0.000byFreq nonsenseG3506
synonymousTTyr [Y]3506
contig referenceCTyr [Y]3506
1040042731549 rs762474667 0.000 missenseTTrp [W]1507
contig referenceCArg [R]1507
1040042751551 rs763523350 0.000 synonymousTArg [R]3507
contig referenceGArg [R]3507
1040042761552 rs751449756 0.000 synonymousTLeu [L]1508
contig referenceCLeu [L]1508
1040042771553 rs1006707311 N.D.byCluster frame shiftGGGly [G]2509
contig reference-Val [V]2509
1040042801556 rs76729958 0.005byClusterbyFreq YesmissenseAGlu [E]2509
missenseCAla [A]2509
missenseGGly [G]2509
contig referenceTVal [V]2509
1040042801556 rs1420894029 N.D. -Gly [G]2509
1040042811557 rs1168162192 N.D. synonymousGVal [V]3509
contig referenceAVal [V]3509
1040042831559 rs1205901275 N.D. missenseGArg [R]2510
contig referenceAHis [H]2510
1040042881564 rs1422024249 N.D. missenseAAsn [N]1512
contig referenceGAsp [D]1512
1040042911567 rs187586531 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseGVal [V]1513
contig referenceTPhe [F]1513
1040042991575 rs750221711 0.000byFreq missenseAGlu [E]3515
synonymousTAsp [D]3515
contig referenceCAsp [D]3515
1040043011577 rs779157623 0.000 missenseGSer [S]2516
contig referenceAAsn [N]2516
1040043051581 rs748342545 0.000 synonymousASer [S]3517
contig referenceCSer [S]3517
1040043061582 rs754939858 0.000byClusterbyFreq missenseGVal [V]1518
contig referenceAIle [I]1518
1040043101586 rs1339964233 N.D. missenseTLeu [L]2519
contig referenceCPro [P]2519
1040043131589 rs1219413813 N.D. missenseGGly [G]2520
contig referenceAAsp [D]2520
1040043161592 rs148458755 0.000byClusterbyFreq YesmissenseGArg [R]2521
contig referenceAHis [H]2521
1040043241600 rs200657917 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTSer [S]1524
contig referenceCPro [P]1524
1040043301606 rs1226391075 N.D. missenseGVal [V]1526
contig referenceAMet [M]1526
1040043331609 rs771404304 0.000 synonymousCLeu [L]1527
contig referenceTLeu [L]1527
1040052741612 rs199531888 0.000byClusterbyFreq YesmissenseTCys [C]1528
contig referenceCArg [R]1528
1040052751613 rs757354863 0.000 missenseAHis [H]2528
contig referenceGArg [R]2528
1040052821620 rs1413195536 N.D. synonymousTPro [P]3530
contig referenceAPro [P]3530
1040052861624 rs1161577728 N.D. missenseAArg [R]1532
contig referenceGGly [G]1532
1040052871625 rs781625098 0.000 missenseAGlu [E]2532
contig referenceGGly [G]2532
1040052891627 rs1380215870 N.D. missenseGGly [G]1533
contig referenceASer [S]1533
1040052921630 rs1454812035 N.D. missenseGAla [A]1534
contig referenceAThr [T]1534
1040052931631 rs746385912 0.000byFreq missenseTMet [M]2534
contig referenceCThr [T]2534
1040052941632 rs746659034 0.000byFreq synonymousAThr [T]3534
contig referenceGThr [T]3534
1040052961634 rs370117405 0.000byCluster YesmissenseCThr [T]2535
contig referenceTIle [I]2535
1040052971635 rs749722047 0.000 synonymousTIle [I]3535
contig referenceCIle [I]3535
1040053051643 rs372987923 0.000byClusterbyFreq YesmissenseAGlu [E]2538
contig referenceTVal [V]2538
1040053091647 rs774093153 0.000byFreq synonymousGLys [K]3539
contig referenceALys [K]3539
1040053121650 rs761368542 0.000byFreq missenseTPhe [F]3540
contig referenceALeu [L]3540
1040053181656 rs1467835745 N.D. synonymousTAsp [D]3542
contig referenceCAsp [D]3542
1040053211659 rs1268553304 N.D. missenseAIle [I]3543
contig referenceGMet [M]3543
1040053231661 rs771732503 0.000byFreq missenseAAsp [D]2544
contig referenceGGly [G]2544
1040053291667 rs200668502 0.000byClusterbyFreq YesmissenseTLeu [L]2546
contig referenceCPro [P]2546
1040053301668 rs368447966 0.000byClusterbyFreq YessynonymousAPro [P]3546
contig referenceGPro [P]3546
1040053411679 rs1342274064 N.D. missenseGArg [R]2550
contig referenceTLeu [L]2550
1040053441682 rs1233265320 N.D. missenseTVal [V]2551
contig referenceCAla [A]2551
1040053451683 rs766395927 0.000 synonymousTAla [A]3551
contig referenceCAla [A]3551
1040053461684 rs753553775 0.000 missenseGAla [A]1552
contig referenceAThr [T]1552
1040053481686 rs759415940 0.000byFreq synonymousGThr [T]3552
contig referenceTThr [T]3552
1040053511689 rs764177727 0.000 synonymousTAla [A]3553
contig referenceCAla [A]3553
1040053521690 rs536481447 N.D.byCluster missenseGVal [V]1554
contig referenceCLeu [L]1554
1040053531691 rs777632563 0.000 frame shift-Pro [P]2555
contig referenceTSer [S]2555
1040053541692 rs757267209 0.000 synonymousCLeu [L]3554
contig referenceTLeu [L]3554
1040053561694 rs1238000260 N.D. missenseATyr [Y]2555
contig referenceCSer [S]2555
1040053571695 rs1420164990 N.D. synonymousTSer [S]3555
contig referenceCSer [S]3555
1040053591697 rs781251895 0.000 missenseGArg [R]2556
missenseTLeu [L]2556
contig referenceCPro [P]2556
1040053601698 rs750571930 0.000byFreq synonymousAPro [P]3556
synonymousCPro [P]3556
contig referenceGPro [P]3556
1040053641702 rs1477743757 N.D. missenseASer [S]1558
contig referenceGGly [G]1558
1040053671705 rs780664240 0.000 missenseGVal [V]1559
synonymousTLeu [L]1559
contig referenceCLeu [L]1559
1040053721710 rs1225953025 N.D. -3561
1040053761714 rs749588701 0.000 missenseGVal [V]1562
contig referenceAIle [I]1562
1040053771715 rs1384599571 N.D. missenseCThr [T]2562
contig referenceTIle [I]2562
1040053821720 rs199766081 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTCys [C]1564
contig referenceCArg [R]1564
1040053831721 rs202014262 0.000byClusterbyFreq YesmissenseAHis [H]2564
contig referenceGArg [R]2564
1040053841722 rs747817441 0.000 synonymousTArg [R]3564
contig referenceCArg [R]3564
1040053931731 rs898684295 N.D. synonymousALeu [L]3567
contig referenceTLeu [L]3567
1040053961734 rs771642930 0.000byFreq synonymousGLeu [L]3568
contig referenceALeu [L]3568
1040054031741 rs1196600611 N.D. missenseALys [K]1571
contig referenceGGlu [E]1571
1040054041742 rs769733089 N.D. missenseGGly [G]2571
contig referenceAGlu [E]2571
1040063891744 rs746462121 0.000byFreq missenseAIle [I]1572
contig referenceGVal [V]1572
1040063941749 rs770493376 0.000 synonymousGGly [G]3573
contig referenceAGly [G]3573
1040063951750 rs1359298097 N.D. missenseAThr [T]1574
contig referenceGAla [A]1574
1040064041759 rs776371442 0.000 missenseAMet [M]1577
contig referenceGVal [V]1577
1040064071762 rs745819440 0.000byFreq missenseGGly [G]1578
contig referenceASer [S]1578
1040064131768 rs1433745694 N.D. missenseALys [K]1580
contig referenceCGln [Q]1580
1040064141769 rs371340225 0.000byClusterbyFreq YesmissenseGArg [R]2580
contig referenceAGln [Q]2580
1040064151770 rs375533110 0.000byCluster YessynonymousAGln [Q]3580
contig referenceGGln [Q]3580
1040064161771 rs1174283420 N.D. missenseGGly [G]1581
contig referenceAArg [R]1581
1040064181773 rs762788965 0.000 synonymousGArg [R]3581
contig referenceAArg [R]3581
1040064191774 rs79402943 0.031byClusterbyFreqWith1000GenomeData0.0284 YesmissenseALys [K]1582
contig referenceGGlu [E]1582
1040064231778 rs1206548652 N.D. missenseGGly [G]2583
contig referenceAAsp [D]2583
1040064241779 rs773458671 0.000byFreq synonymousCAsp [D]3583
contig referenceTAsp [D]3583
1040064251780 rs1259672710 N.D. -1584
1040064311786 rs1366533855 N.D. missenseTSer [S]1586
contig referenceCPro [P]1586
1040064331788 rs760622586 0.000byFreq synonymousGPro [P]3586
synonymousTPro [P]3586
contig referenceCPro [P]3586
1040064371792 rs894934908 N.D. missenseAAsn [N]1588
contig referenceGAsp [D]1588
1040064411796 rs1164152237 N.D. missenseAAsp [D]2589
contig referenceGGly [G]2589
1040064461801 rs1366822688 N.D. synonymousCLeu [L]1591
contig referenceTLeu [L]1591
1040064541809 rs747929352 0.000byFreq synonymousTPhe [F]3593
contig referenceCPhe [F]3593
1040064581813 rs1287844105 N.D. missenseAArg [R]1595
contig referenceGGly [G]1595