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SNP linked to Gene (geneID:23259) 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): 12
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017013256.1plus strandXP_016868745.1forwardNT_167187.2GRCh38.p7View snp on GeneModel
XM_017013255.1plus strandXP_016868744.1forwardNT_167187.2GRCh38.p7View snp on GeneModel
XM_017013254.1plus strandXP_016868743.1forwardNT_167187.2GRCh38.p7View snp on GeneModel
XM_017013253.1plus strandXP_016868742.1forwardNT_167187.2GRCh38.p7View snp on GeneModel
XM_017013252.1plus strandXP_016868741.1forwardNT_167187.2GRCh38.p7View snp on GeneModel
XM_011544456.1plus strandXP_011542758.1forwardNT_167187.2GRCh38.p7View snp on GeneModel
XM_005273456.3plus strandXP_005273513.1forwardNT_167187.2GRCh38.p7View snp on GeneModel
XM_005273455.3plus strandXP_005273512.1forwardNT_167187.2GRCh38.p7View snp on GeneModel
XM_005273454.2plus strandXP_005273511.1forwardNT_167187.2GRCh38.p7View snp on GeneModel
NM_015214.2plus strandNP_056029.2forwardNT_167187.2GRCh38.p7View snp on GeneModel
NM_001164234.1plus strandNP_001157706.1forwardNT_167187.2GRCh38.p7View snp on GeneModel
NM_001164232.1plus strandNP_001157704.1forwardNT_167187.2GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
XR_001745506.1609, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
38232995378 rs1352701089 N.D. frame shift-Ile [I]11
contig referenceATGTCMet [M]11
38233004387 rs977425695 N.D. missenseTLeu [L]14
contig referenceGVal [V]14
38233006389 rs760594462 N.D. synonymousAVal [V]34
contig referenceGVal [V]34
38233009392 rs1463268146 N.D. synonymousAGln [Q]35
contig referenceGGln [Q]35
38233011394 rs771376379 0.000 missenseTLeu [L]26
contig referenceCSer [S]26
38233012395 rs774404330 0.000 synonymousGSer [S]36
contig referenceASer [S]36
38233013396 rs201334641 0.000byClusterWith1000GenomeData0.0002 missenseALys [K]17
contig referenceCGln [Q]17
38233015398 rs182341575 0.001byClusterbyFreqWith1000GenomeData0.0006 synonymousGGln [Q]37
contig referenceAGln [Q]37
38233021404 rs1189286008 N.D. synonymousAGlu [E]39
contig referenceGGlu [E]39
38233024407 rs1457593168 N.D. missenseCHis [H]310
contig referenceGGln [Q]310
38233033416 rs138068744 0.000byCluster missenseTHis [H]313
contig referenceGGln [Q]313
38233038421 rs775728459 0.000 missenseGGly [G]215
contig referenceAAsp [D]215
38233039422 rs761777370 0.000byFreq missenseGGlu [E]315
contig referenceTAsp [D]315
38233047430 rs143549962 0.000byCluster missenseTLeu [L]218
contig referenceCPro [P]218
38233048431 rs750194962 0.000byFreq synonymousAPro [P]318
contig referenceGPro [P]318
38233060443 rs1207327635 N.D. synonymousGSer [S]322
contig referenceASer [S]322
38233066449 rs762638689 0.000 synonymousCSer [S]324
contig referenceTSer [S]324
38233067450 rs1488792840 N.D. missenseGAla [A]125
contig referenceTSer [S]125
38233068451 rs766240465 0.000 missenseTPhe [F]225
contig referenceCSer [S]225
38233072455 rs1219184289 N.D. synonymousCPhe [F]326
contig referenceTPhe [F]326
38233075458 rs751170158 0.000 synonymousAGlu [E]327
contig referenceGGlu [E]327
38233078461 rs754719646 0.000byFreq synonymousGLeu [L]328
contig referenceALeu [L]328
38233084467 rs780610008 0.000byFreq synonymousTAsp [D]330
contig referenceCAsp [D]330
38233085468 rs1187391481 N.D. missenseGVal [V]131
contig referenceAMet [M]131
38233090473 rs1009555066 N.D. missenseAGlu [E]332
contig referenceTAsp [D]332
38233091474 rs1416849076 N.D. missenseTSer [S]133
contig referenceGAla [A]133
38233092475 rs1430223227 N.D. missenseTVal [V]233
contig referenceCAla [A]233
38233095478 rs1386891750 N.D. missenseAAsp [D]234
contig referenceGGly [G]234
38233096479 rs1171110943 N.D. synonymousAGly [G]334
contig referenceCGly [G]334
38233099482 rs1358332959 N.D. missenseGArg [R]335
contig referenceCSer [S]335
38233101484 rs1297799697 N.D. missenseGTrp [W]236
contig referenceTLeu [L]236
38233102485 rs1468069638 N.D. synonymousALeu [L]336
contig referenceGLeu [L]336
38233108491 rs145837688 0.000byCluster missenseCAsp [D]338
contig referenceAGlu [E]338
38233109492 rs1230166474 N.D. missenseGAla [A]139
contig referenceCPro [P]139
38233110493 rs756560473 0.000byFreq missenseAGln [Q]239
missenseTLeu [L]239
contig referenceCPro [P]239
38233111494 rs1453381938 N.D. synonymousGPro [P]339
contig referenceAPro [P]339
38233116499 rs112061720 0.500 missenseGCys [C]241
contig referenceCSer [S]241
38233118501 rs903117028 N.D. missenseTSer [S]142
contig referenceCPro [P]142
38233123506 rs932523071 N.D. synonymousCHis [H]343
contig referenceTHis [H]343
38233126509 rs778229764 0.000 nonsenseA344
contig referenceGTrp [W]344
38233133516 rs200883537 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGly [G]147
contig referenceTCys [C]147
38233145528 rs771194032 0.000 missenseCHis [H]151
missenseTTyr [Y]151
contig referenceGAsp [D]151
38233149532 rs1323212138 N.D. missenseGCys [C]252
contig referenceCSer [S]252
38233155538 rs779390449 0.000 missenseCAla [A]254
contig referenceAGlu [E]254
38233159542 rs746020888 0.000byFreq synonymousCThr [T]355
synonymousGThr [T]355
contig referenceAThr [T]355
38233164547 rs370564627 0.000byCluster missenseCThr [T]257
contig referenceTIle [I]257
38233172555 rs1207777254 N.D. missenseGAsp [D]160
contig referenceAAsn [N]160
38233175558 rs760860946 0.000 missenseGAla [A]161
contig referenceTSer [S]161
38233183566 rs768909651 0.000 missenseGGlu [E]363
contig referenceTAsp [D]363
38233195578 rs1365361536 N.D. synonymousALeu [L]367
contig referenceGLeu [L]367
38233209592 rs773256513 0.000byFreq missenseCThr [T]272
contig referenceGSer [S]272
38233212595 rs1424404522 N.D. missenseTPhe [F]273
contig referenceCSer [S]273
38233214597 rs1431897391 N.D. missenseAArg [R]174
contig referenceGGly [G]174
38234398602 rs758644979 0.000 synonymousGLys [K]375
contig referenceALys [K]375
38234399603 rs141644282 0.003byClusterbyFreqWith1000GenomeData0.0032 missenseASer [S]176
missenseTCys [C]176
contig referenceGGly [G]176
38234400604 rs150361106 0.003byClusterbyFreqWith1000GenomeData0.0032 missenseAAsp [D]276
missenseTVal [V]276
contig referenceGGly [G]276
38234415619 rs1490080051 N.D. missenseAAsp [D]281
contig referenceTVal [V]281
38234417621 rs939131374 N.D. missenseAIle [I]182
contig referenceGVal [V]182
38234420624 rs1206858004 N.D. frame shift-Leu [L]183
contig referenceCPro [P]183
38234421625 rs768856268 0.000 missenseTLeu [L]283
contig referenceCPro [P]283
38234424628 rs1406076551 N.D. missenseTIle [I]284
contig referenceCThr [T]284
38234425629 rs1402452014 N.D. synonymousCThr [T]384
synonymousGThr [T]384
contig referenceTThr [T]384
38234426630 rs776911531 0.000 missenseTTyr [Y]185
contig referenceGAsp [D]185
38234427631 rs1365095845 N.D. missenseCAla [A]285
contig referenceAAsp [D]285
38234434638 rs1479349225 N.D. synonymousTGly [G]387
contig referenceCGly [G]387
38234439643 rs749124716 0.000 missenseCSer [S]289
contig referenceATyr [Y]289
38234439643 rs1423261641 N.D. -290
38234440644 rs1206039082 N.D. synonymousCTyr [Y]389
contig referenceTTyr [Y]389
38234441645 rs1346496290 N.D. missenseAAsn [N]190
contig referenceGAsp [D]190
38234448652 rs1313340125 N.D. missenseGArg [R]292
contig referenceAHis [H]292
38234450654 rs544728429 0.000byClusterbyFreq synonymousCLeu [L]193
contig referenceTLeu [L]193
38234452656 rs1003263082 N.D. missenseCPhe [F]393
missenseTPhe [F]393
contig referenceGLeu [L]393
38234453657 rs202216406 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAArg [R]194
missenseCArg [R]194
missenseTTrp [W]194
contig referenceGGly [G]194
38234458662 rs1393395071 N.D. missenseCAsp [D]395
contig referenceGGlu [E]395
38234459663 rs1033769147 N.D. synonymousCArg [R]196
contig referenceAArg [R]196
38234465669 rs372220151 0.000byCluster missenseTTrp [W]198
contig referenceCArg [R]198
38234466670 rs759350464 0.000 missenseAGln [Q]298
contig referenceGArg [R]298
38234467671 rs1356706175 N.D. synonymousAArg [R]398
synonymousTArg [R]398
contig referenceGArg [R]398
38234469673 rs767339299 0.000 missenseCSer [S]299
contig referenceATyr [Y]299
38234470674 rs775119570 0.000byFreq nonsenseA399
contig referenceTTyr [Y]399
38234472676 rs1436954095 N.D. missenseGGly [G]2100
contig referenceCAla [A]2100
38234473677 rs760375946 0.000 synonymousCAla [A]3100
contig referenceTAla [A]3100
38234475679 rs764160790 0.000 frame shift-Asp [D]2101
contig referenceTVal [V]2101
38234475679 rs1471270774 N.D. missenseCAla [A]2101
contig referenceTVal [V]2101
38234476680 rs894808298 N.D. synonymousGVal [V]3101
contig referenceAVal [V]3101
38234477681 rs144436068 0.000byClusterbyFreq missenseCHis [H]1102
contig referenceTTyr [Y]1102
38234478682 rs1384650676 N.D. missenseGCys [C]2102
contig referenceATyr [Y]2102
38234479683 rs753395288 0.000byFreq synonymousTTyr [Y]3102
contig referenceCTyr [Y]3102
38234482686 rs757666988 0.000 nonsenseA3103
contig referenceGTrp [W]3103
38234485689 rs765795609 0.000byFreq missenseGGlu [E]3104
contig referenceTAsp [D]3104
38234494698 rs750941346 0.000byFreq synonymousGAla [A]3107
synonymousTAla [A]3107
contig referenceAAla [A]3107
38234496700 rs572255417 0.000byFreqWith1000GenomeData0.0004 missenseTLeu [L]2108
contig referenceCSer [S]2108
38234497701 rs780636754 0.000byFreq synonymousASer [S]3108
contig referenceGSer [S]3108
38234502706 rs755352037 0.000 missenseCAla [A]2110
contig referenceTVal [V]2110
38234507711 rs755267771 0.000byFreq nonsenseT1112
contig referenceCArg [R]1112
38234508712 rs781089161 0.000byClusterbyFreq missenseAGln [Q]2112
missenseTLeu [L]2112
contig referenceGArg [R]2112
38234511715 rs748280169 0.000 missenseCSer [S]2113
contig referenceGCys [C]2113
38234512716 rs1338662727 N.D. ACGThr [T]3114
38234514718 rs542604783 0.000byFreqWith1000GenomeData0.0002 missenseTMet [M]2114
contig referenceCThr [T]2114
38234515719 rs774309381 0.000 synonymousAThr [T]3114
synonymousTThr [T]3114
contig referenceGThr [T]3114
38234517721 rs745871510 0.000 nonsenseA2115
contig referenceGTrp [W]2115
38234527731 rs1199460201 N.D. missenseCAsn [N]3118
contig referenceGLys [K]3118
38234530734 rs771841303 0.000 synonymousAGly [G]3119
contig referenceGGly [G]3119
38234531735 rs1289420182 N.D. missenseCHis [H]1120
contig referenceGAsp [D]1120
38234532736 rs775275421 0.000 missenseGGly [G]2120
contig referenceAAsp [D]2120
38234533737 rs148587720 0.000byClusterbyFreq missenseGGlu [E]3120
contig referenceCAsp [D]3120
38234534738 rs1454498058 N.D. missenseGGlu [E]1121
contig referenceALys [K]1121
38234541745 rs144993452 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGSer [S]2123
contig referenceAAsn [N]2123
38234543747 rs191787470 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGlu [E]1124
contig referenceALys [K]1124
38234543747 rs1475369039 N.D. frame shift-Ser [S]1124
contig referenceALys [K]1124
38234548752 rs201640343 0.003byClusterbyFreqWith1000GenomeData0.0024 synonymousCTyr [Y]3125
contig referenceTTyr [Y]3125
38234550754 rs764694270 0.000 missenseGGly [G]2126
contig referenceTVal [V]2126
38234551755 rs1335617133 N.D. synonymousGVal [V]3126
contig referenceTVal [V]3126
38234552756 rs750939885 0.000 missenseGAla [A]1127
contig referenceCPro [P]1127
38234554758 rs1334551717 N.D. synonymousTPro [P]3127
contig referenceCPro [P]3127
38234559763 rs748398783 0.000byFreq missenseTLeu [L]2129
contig referenceCSer [S]2129
38234561765 rs1325391969 N.D. nonsenseT1130
contig referenceGGlu [E]1130
38234566770 rs201121892 0.000byClusterbyFreq missenseGArg [R]3131
contig referenceCSer [S]3131
38234567771 rs755200059 0.000byCluster missenseCLeu [L]1132
contig referenceTPhe [F]1132
38234572776 rs1393749851 N.D. synonymousTSer [S]3133
contig referenceCSer [S]3133
38234573777 rs772199158 0.000 nonsenseT1134
contig referenceCGln [Q]1134
38234574778 rs777774654 0.000 missenseCPro [P]2134
missenseTLeu [L]2134
contig referenceAGln [Q]2134
38237540791 rs113975957 0.500byCluster synonymousGGlu [E]3138
contig referenceAGlu [E]3138
38237544795 rs1438386252 N.D. frame shiftA1140
contig reference-Tyr [Y]1140
38237546797 rs939799061 N.D. synonymousTTyr [Y]3140
contig referenceCTyr [Y]3140
38237547798 rs1349988338 N.D. missenseGVal [V]1141
missenseTLeu [L]1141
contig referenceAMet [M]1141
38237548799 rs752157943 0.000 missenseALys [K]2141
contig referenceTMet [M]2141
38237551802 rs1286508981 N.D. missenseGArg [R]2142
contig referenceTLeu [L]2142
38237556807 rs1488893949 N.D. missenseAIle [I]1144
contig referenceGVal [V]1144
38237559810 rs1199384755 N.D. missenseGAla [A]1145
contig referenceAThr [T]1145
38237560811 rs1267173739 N.D. missenseGSer [S]2145
contig referenceCThr [T]2145
38237570821 rs150672401 0.000byCluster synonymousGGlu [E]3148
contig referenceAGlu [E]3148
38237574825 rs767833692 0.000 missenseGGlu [E]1150
contig referenceALys [K]1150
38237576827 rs1352253803 N.D. synonymousGLys [K]3150
contig referenceALys [K]3150
38237579830 rs1036771106 N.D. synonymousALys [K]3151
contig referenceGLys [K]3151
38237581832 rs143782453 0.000byClusterbyFreq missenseGArg [R]2152
contig referenceALys [K]2152
38237592843 rs554950617 0.000With1000GenomeData0.0002 missenseTSer [S]1156
contig referenceCPro [P]1156
38237593844 rs1013939450 N.D. missenseGArg [R]2156
contig referenceCPro [P]2156
38237594845 rs1360673871 N.D. synonymousTPro [P]3156
contig referenceCPro [P]3156
38237597848 rs777858708 0.000 missenseALys [K]3157
contig referenceCAsn [N]3157
38237599850 rs753948540 0.000 missenseALys [K]2158
contig referenceGArg [R]2158
38237601852 rs1347121518 N.D. missenseALys [K]1159
contig referenceGGlu [E]1159
38237611862 rs1405356714 N.D. frame shift-Tyr [Y]2163
contig referenceTLeu [L]2163
38237620871 rs1302177305 N.D. missenseGSer [S]2165
contig referenceAAsn [N]2165
38237625876 rs1335392886 N.D. missenseGGlu [E]1167
contig referenceALys [K]1167
38238095885 rs754889897 0.000 missenseAMet [M]1170
missenseCLeu [L]1170
contig referenceGVal [V]1170
38238097887 rs780976966 0.000byFreq synonymousAVal [V]3170
contig referenceGVal [V]3170
38238099889 rs188349300 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGArg [R]2171
missenseTLeu [L]2171
contig referenceAHis [H]2171
38238104894 rs1424300803 N.D. nonsenseT1173
contig referenceCGln [Q]1173
38238110900 rs368985789 0.000byCluster missenseCLeu [L]1175
contig referenceGVal [V]1175
38238114904 rs1371085515 N.D. missenseGGly [G]2176
contig referenceCAla [A]2176
38238117907 rs1463352630 N.D. missenseAGlu [E]2177
contig referenceGGly [G]2177
38238118908 rs200965214 N.D.With1000GenomeData synonymousAGly [G]3177
contig referenceGGly [G]3177
38238121911 rs749011563 0.000 synonymousCSer [S]3178
contig referenceTSer [S]3178
38238122912 rs1401308165 N.D. missenseAAsn [N]1179
contig referenceGAsp [D]1179
38238123913 rs866244032 N.D.byCluster missenseGGly [G]2179
contig referenceAAsp [D]2179
38238124914 rs146825198 0.000byClusterbyFreq synonymousCAsp [D]3179
contig referenceTAsp [D]3179
38238136926 rs1442049090 N.D. synonymousGSer [S]3183
contig referenceASer [S]3183
38238137927 rs774010752 0.000 missenseCPro [P]1184
contig referenceAThr [T]1184
38238139929 rs374416133 0.000byClusterbyFreq synonymousGThr [T]3184
contig referenceAThr [T]3184
38238142932 rs996213581 N.D. synonymousTPro [P]3185
contig referenceCPro [P]3185
38238143933 rs772485062 0.000byFreq missenseGAla [A]1186
contig referenceAThr [T]1186
38238145935 rs149994413 0.001byClusterbyFreq synonymousAThr [T]3186
contig referenceGThr [T]3186
38238150940 rs764482666 0.000 missenseTLeu [L]2188
contig referenceAGln [Q]2188
38238152942 rs1230093956 N.D. missenseTCys [C]1189
contig referenceGGly [G]1189
38238153943 rs776830636 0.000byFreq missenseTVal [V]2189
contig referenceGGly [G]2189
38238155945 rs377293194 0.000byClusterbyFreq nonsenseT1190
contig referenceCArg [R]1190
38238156946 rs1201437383 N.D. missenseAGln [Q]2190
missenseTLeu [L]2190
contig referenceGArg [R]2190
38238159949 rs577518196 N.D. missenseGArg [R]2191
contig referenceCPro [P]2191
38238160950 rs1194225104 N.D. frame shift-Glu [E]3192
contig referenceAArg [R]3192
38238162952 rs765246042 0.000byFreq missenseCThr [T]2192
missenseTIle [I]2192
contig referenceGArg [R]2192
38238164954 rs754907740 0.000 missenseCPro [P]1193
missenseGAla [A]1193
contig referenceAThr [T]1193
38238165955 rs767381458 0.000 missenseTIle [I]2193
contig referenceCThr [T]2193
38238172962 rs752716800 0.000 synonymousALys [K]3195
contig referenceGLys [K]3195
38238174964 rs1192618374 N.D. missenseCThr [T]2196
contig referenceGArg [R]2196
38238175965 rs1437984201 N.D. synonymousGArg [R]3196
contig referenceAArg [R]3196
38238176966 rs921994843 N.D. missenseAArg [R]1197
contig referenceGGly [G]1197
38238178968 rs1193523017 N.D. synonymousGGly [G]3197
contig referenceAGly [G]3197
38238181971 rs1016870817 N.D. synonymousCVal [V]3198
contig referenceTVal [V]3198
38238187977 rs1299356367 N.D. missenseGLys [K]3200
contig referenceCAsn [N]3200
38238190980 rs1430010376 N.D. synonymousTIle [I]3201
contig referenceCIle [I]3201
38238192982 rs1338217198 N.D. missenseTPhe [F]2202
contig referenceCSer [S]2202
38238195985 rs755852058 0.000byFreq missenseCAla [A]2203
contig referenceTVal [V]2203
38238200990 rs777766103 0.000byFreq missenseGVal [V]1205
missenseTPhe [F]1205
contig referenceAIle [I]1205
38238202992 rs756972190 0.000byFreq missenseGMet [M]3205
contig referenceTIle [I]3205
38238204994 rs778527212 0.000 missenseGArg [R]2206
contig referenceAHis [H]2206
38238205995 rs145155378 0.000byCluster synonymousCHis [H]3206
contig referenceTHis [H]3206
38238206996 rs745392027 0.000 missenseGGly [G]1207
contig referenceTCys [C]1207
382402801005 rs376771682 0.000byClusterbyFreq missenseAThr [T]1210
contig referenceCPro [P]1210
382402881013 rs763289130 0.000 missenseCHis [H]3212
contig referenceAGln [Q]3212
382402901015 rs970900391 N.D. missenseGArg [R]2213
contig referenceTIle [I]2213
382403011026 rs1441645090 N.D. missenseAIle [I]1217
contig referenceGVal [V]1217
382403021027 rs1159718360 N.D. missenseCAla [A]2217
contig referenceTVal [V]2217
382403121037 rs770856612 0.000byFreq synonymousGVal [V]3220
contig referenceCVal [V]3220
382403191044 rs180936280 0.000byClusterWith1000GenomeData0.0006 missenseGVal [V]1223
contig referenceAIle [I]1223
382403231048 rs1423370334 N.D. missenseAGlu [E]2224
contig referenceGGly [G]2224
382403281053 rs760648546 0.000 missenseAThr [T]1226
contig referenceGAla [A]1226
382403341059 rs1480966330 N.D. missenseAAsn [N]1228
contig referenceGAsp [D]1228
382403351060 rs1350880273 N.D. missenseGGly [G]2228
contig referenceAAsp [D]2228
382403401065 rs764149817 0.000byFreq missenseGGly [G]1230
missenseTCys [C]1230
contig referenceCArg [R]1230
382403411066 rs544918661 0.000byFreqWith1000GenomeData0.0002 missenseAHis [H]2230
contig referenceGArg [R]2230
382403461071 rs1249841130 N.D. nonsenseT1232
contig referenceCArg [R]1232
382403471072 rs761670911 0.000 missenseAGln [Q]2232
contig referenceGArg [R]2232
382403511076 rs560050475 0.000byFreqWith1000GenomeData0.0002 synonymousTSer [S]3233
contig referenceCSer [S]3233
382403541079 rs1314214704 N.D. synonymousCIle [I]3234
contig referenceTIle [I]3234
382403551080 rs926706630 N.D. missenseAIle [I]1235
contig referenceGVal [V]1235
382403561081 rs959410078 N.D. missenseCAla [A]2235
contig referenceTVal [V]2235
382403591084 rs750032971 0.000byFreq missenseCPro [P]2236
missenseGArg [R]2236
contig referenceAGln [Q]2236
382422501090 rs1248167235 N.D. missenseGGly [G]2238
contig referenceTVal [V]2238
382422561096 rs1011985479 N.D. missenseGGly [G]2240
contig referenceAAsp [D]2240
382422611101 rs1380005347 N.D. missenseTCys [C]1242
contig referenceCArg [R]1242
382422621102 rs767497993 0.000 missenseAHis [H]2242
contig referenceGArg [R]2242
382422651105 rs375672432 0.000byCluster missenseAAsn [N]2243
contig referenceGSer [S]2243
382422731113 rs774244682 0.000byFreq synonymousCLeu [L]1246
contig referenceTLeu [L]1246
382422771117 rs1338436899 N.D. missenseCThr [T]2247
contig referenceAAsn [N]2247
382422861126 rs778301805 N.D. missenseGArg [R]2250
contig referenceAGln [Q]2250
382422891129 rs759666782 0.000 missenseTIle [I]2251
contig referenceCThr [T]2251
382422911131 rs1360536069 N.D. frame shiftAGln [Q]1252
contig reference-His [H]1252
382422931133 rs772317385 0.000 synonymousCHis [H]3252
contig referenceTHis [H]3252
382423041144 rs370261200 0.000byCluster missenseTVal [V]2256
contig referenceCAla [A]2256
382423261166 rs1000538356 N.D. synonymousAGly [G]3263
synonymousTGly [G]3263
contig referenceGGly [G]3263
382423321172 rs776706696 0.000 synonymousGVal [V]3265
contig referenceAVal [V]3265
382423421182 rs761900132 0.000 missenseGAla [A]1269
contig referenceCPro [P]1269
382423441184 rs764884513 0.000byFreq synonymousGPro [P]3269
synonymousTPro [P]3269
contig referenceAPro [P]3269
382423491189 rs773065540 0.000 missenseGSer [S]2271
contig referenceAAsn [N]2271
382423561196 rs1475252992 N.D. synonymousTHis [H]3273
contig referenceCHis [H]3273
382423721212 rs1168983624 N.D. missenseCPro [P]1279
contig referenceAThr [T]1279
382423731213 rs775733478 N.D. missenseTIle [I]2279
contig referenceCThr [T]2279
382423771217 rs762476082 0.000 synonymousCGly [G]3280
synonymousGGly [G]3280
contig referenceTGly [G]3280
382423791219 rs766080613 0.000 missenseCAla [A]2281
contig referenceTVal [V]2281
382423811221 rs1383957547 N.D. missenseAAsn [N]1282
contig referenceGAsp [D]1282
382457491233 rs764638887 0.000 nonsenseT1286
contig referenceCGln [Q]1286
382457501234 rs754342214 0.000 missenseGArg [R]2286
contig referenceAGln [Q]2286
382457531237 rs376933418 0.000byClusterbyFreq missenseAGln [Q]2287
contig referenceGArg [R]2287
382457551239 rs1220182181 N.D. missenseGVal [V]1288
contig referenceAIle [I]1288
382457571241 rs148904419 0.001byClusterbyFreqWith1000GenomeData0.0004 synonymousCIle [I]3288
contig referenceAIle [I]3288
382457641248 rs1034019011 N.D. missenseTSer [S]1291
contig referenceCPro [P]1291
382457661250 rs147298498 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTPro [P]3291
contig referenceCPro [P]3291
382457691253 rs780244159 0.000byFreq synonymousTSer [S]3292
contig referenceCSer [S]3292
382457721256 rs1166134624 N.D. synonymousAIle [I]3293
contig referenceTIle [I]3293
382457761260 rs747136432 0.000 missenseASer [S]1295
missenseTCys [C]1295
contig referenceCArg [R]1295
382457771261 rs561561545 N.D. missenseAHis [H]2295
contig referenceGArg [R]2295
382457841268 rs369986054 0.000byCluster missenseTSer [S]3297
synonymousAArg [R]3297
contig referenceGArg [R]3297
382457851269 rs1488781089 N.D. missenseTTyr [Y]1298
contig referenceCHis [H]1298
382457901274 rs528942567 N.D.byCluster synonymousTPhe [F]3299
contig referenceCPhe [F]3299
382457921276 rs200249745 0.000byClusterbyFreq missenseTIle [I]2300
contig referenceCThr [T]2300
382457951279 rs749254491 0.000 missenseGSer [S]2301
contig referenceAAsn [N]2301
382458001284 rs770697841 0.000 missenseGAla [A]1303
contig referenceAThr [T]1303
382458031287 rs774132901 0.000 missenseCLeu [L]1304
missenseGVal [V]1304
contig referenceAIle [I]1304
382458051289 rs139393309 0.002byClusterbyFreqWith1000GenomeData0.0026 synonymousAIle [I]3304
contig referenceTIle [I]3304
382458181302 rs946237781 N.D. missenseCLeu [L]1309
contig referenceTPhe [F]1309
382458211305 rs1463912825 N.D. missenseAAsn [N]1310
contig referenceTTyr [Y]1310
382458221306 rs771731389 0.000byFreq missenseGCys [C]2310
contig referenceATyr [Y]2310
382458231307 rs200317856 0.000byClusterbyFreq synonymousTTyr [Y]3310
contig referenceCTyr [Y]3310
382458241308 rs1380849793 N.D. missenseCHis [H]1311
missenseGAsp [D]1311
contig referenceAAsn [N]1311
382458251309 rs1424015798 N.D. missenseGSer [S]2311
contig referenceAAsn [N]2311
382458271311 rs1291561513 N.D. missenseTCys [C]1312
contig referenceASer [S]1312
382458281312 rs760200295 0.000 missenseCThr [T]2312
contig referenceGSer [S]2312
382458301314 rs763578024 0.000 missenseGAla [A]1313
missenseTSer [S]1313
contig referenceCPro [P]1313
382458341318 rs1191777233 N.D. missenseTIle [I]2314
contig referenceCThr [T]2314
382458391323 rs754356348 0.000 missenseCArg [R]1316
missenseGGly [G]1316
contig referenceTCys [C]1316
382458441328 rs1467992635 N.D. missenseCHis [H]3317
synonymousAGln [Q]3317
contig referenceGGln [Q]3317
382458481332 rs369721945 0.000byCluster missenseGVal [V]1319
contig referenceAIle [I]1319
382458521336 rs1238057600 N.D. missenseCAla [A]2320
contig referenceTVal [V]2320
382458551339 rs376057923 0.000byClusterbyFreq missenseGGly [G]2321
contig referenceAAsp [D]2321
382458571341 rs750851222 0.000 missenseGAla [A]1322
contig referenceAThr [T]1322
382458631347 rs758647121 0.000 missenseAThr [T]1324
contig referenceGAla [A]1324
382458731357 rs1313544170 N.D. missenseCThr [T]2327
contig referenceTMet [M]2327
382458781362 rs201258800 0.000byClusterbyFreq nonsenseT1329
missenseGGly [G]1329
contig referenceCArg [R]1329
382458791363 rs552644015 0.000byFreqWith1000GenomeData0.0002 missenseAGln [Q]2329
contig referenceGArg [R]2329
382458821366 rs1210012272 N.D. missenseCThr [T]2330
contig referenceTIle [I]2330
382458861370 rs1434711869 N.D. synonymousTTyr [Y]3331
contig referenceCTyr [Y]3331
382458871371 rs781142042 0.000byFreq missenseGAla [A]1332
contig referenceAThr [T]1332
382458881372 rs749180013 0.000byFreq missenseTIle [I]2332
contig referenceCThr [T]2332
382458901374 rs1179970028 N.D. missenseAIle [I]1333
contig referenceCLeu [L]1333
382458921376 rs1238319952 N.D. synonymousGLeu [L]3333
contig referenceTLeu [L]3333
382458981382 rs770883068 0.000 synonymousGLeu [L]3335
contig referenceALeu [L]3335
382459021386 rs778628163 0.000byFreq synonymousCArg [R]1337
contig referenceAArg [R]1337
382459071391 rs745638591 0.000byFreq synonymousTAsn [N]3338
contig referenceCAsn [N]3338
382459081392 rs771892795 0.000 missenseAThr [T]1339
missenseTSer [S]1339
contig referenceCPro [P]1339
382459161400 rs372428685 0.000byClusterbyFreq synonymousTPhe [F]3341
contig referenceCPhe [F]3341
382459181402 rs540732079 N.D.byCluster missenseCThr [T]2342
contig referenceALys [K]2342
382459201404 rs1466766571 N.D. missenseCArg [R]1343
contig referenceGGly [G]1343
382459211405 rs760303461 0.000byFreq missenseCAla [A]2343
contig referenceGGly [G]2343
382459221406 rs768154369 0.000 synonymousAGly [G]3343
contig referenceGGly [G]3343
382459261410 rs776010216 0.000 missenseAIle [I]1345
contig referenceGVal [V]1345
382459321416 rs762342203 0.000byClusterbyFreq missenseGVal [V]1347
contig referenceAIle [I]1347
382459361420 rs1311235152 N.D. missenseTVal [V]2348
contig referenceCAla [A]2348
382459381422 rs765869767 0.000 missenseTCys [C]1349
contig referenceGGly [G]1349
382459421426 rs147619894 0.000byCluster missenseGArg [R]2350
contig referenceAHis [H]2350
382459461430 rs751019593 0.000 synonymousCSer [S]3351
contig referenceTSer [S]3351
382462371439 rs1465618534 N.D. synonymousASer [S]3354
contig referenceGSer [S]3354
382462421444 rs1320383562 N.D. missenseCThr [T]2356
contig referenceTIle [I]2356
382462461448 rs374745689 0.000byCluster missenseTPhe [F]3357
contig referenceGLeu [L]3357
382462591461 rs1384341755 N.D. missenseTSer [S]1362
contig referenceAThr [T]1362
382462601462 rs1464380438 N.D. frame shift-Glu [E]2363
contig referenceCAAATAsn [N]2363
382462641466 rs1163822364 N.D. synonymousCAsn [N]3363
contig referenceTAsn [N]3363
382462651467 rs201156715 0.000byClusterbyFreq missenseGGlu [E]1364
contig referenceCGln [Q]1364
382462711473 rs779725926 0.000 missenseTTyr [Y]1366
contig referenceGAsp [D]1366
382462751477 rs746606378 0.000 missenseTPhe [F]2367
contig referenceCSer [S]2367
382462781480 rs768226042 0.000 missenseGTrp [W]2368
contig referenceTLeu [L]2368
382462791481 rs1243425696 N.D. synonymousALeu [L]3368
contig referenceGLeu [L]3368
382462801482 rs1244455158 N.D. missenseAArg [R]1369
contig referenceGGly [G]1369
382462821484 rs776160773 0.000 synonymousAGly [G]3369
contig referenceGGly [G]3369
382462831485 rs199744652 0.002byCluster missenseTTyr [Y]1370
contig referenceGAsp [D]1370
382462911493 rs1445979083 N.D. synonymousTAsp [D]3372
contig referenceCAsp [D]3372
382462961498 rs953609426 N.D. missenseTVal [V]2374
contig referenceAGlu [E]2374
382477141504 rs148664622 0.006byClusterbyFreqWith1000GenomeData0.0012 missenseGGly [G]2376
contig referenceAAsp [D]2376
382477151505 rs1391378412 N.D. synonymousCAsp [D]3376
contig referenceTAsp [D]3376
382477161506 rs916017599 N.D. missenseGAla [A]1377
contig referenceTSer [S]1377
382477171507 rs145943165 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseTLeu [L]2377
contig referenceCSer [S]2377
382477181508 rs138763105 0.000byClusterbyFreq synonymousASer [S]3377
contig referenceGSer [S]3377
382477191509 rs199627917 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTLeu [L]1378
contig referenceCLeu [L]1378
382477261516 rs888759250 N.D. missenseCThr [T]2380
contig referenceTIle [I]2380
382477311521 rs1422246401 N.D. missenseGVal [V]1382
contig referenceAMet [M]1382
382477351525 rs375165894 0.000byCluster missenseTVal [V]2383
contig referenceAAsp [D]2383
382477381528 rs758336439 0.000 missenseGArg [R]2384
contig referenceAGln [Q]2384
382477391529 rs779860077 0.000 synonymousGGln [Q]3384
contig referenceAGln [Q]3384
382477441534 rs1187124864 N.D. missenseCAla [A]2386
contig referenceAAsp [D]2386
382477461536 rs746803670 0.000byFreq missenseGAla [A]1387
contig referenceAThr [T]1387
382477471537 rs1476354417 N.D. missenseGArg [R]2387
contig referenceCThr [T]2387
382477491539 rs754854169 0.000byFreq missenseTSer [S]1388
contig referenceCPro [P]1388
382477501540 rs1283814799 N.D. missenseTLeu [L]2388
contig referenceCPro [P]2388
382477541544 rs367904245 0.000byClusterbyFreq YessynonymousGThr [T]3389
contig referenceAThr [T]3389
382477551545 rs142190071 0.002byClusterbyFreqWith1000GenomeData0.0020 YesmissenseAIle [I]1390
synonymousTLeu [L]1390
contig referenceCLeu [L]1390
382477571547 rs1283849542 N.D. synonymousGLeu [L]3390
contig referenceALeu [L]3390
382477591549 rs772867386 0.000 missenseGGly [G]2391
contig referenceAGlu [E]2391
382477611551 rs1488267151 N.D. missenseALys [K]1392
contig referenceGGlu [E]1392
382477641554 rs749768040 0.000byFreq missenseTTyr [Y]1393
contig referenceGAsp [D]1393
382477661556 rs1225314456 N.D. synonymousCAsp [D]3393
contig referenceTAsp [D]3393
382477701560 rs1215878914 N.D. missenseCGln [Q]1395
contig referenceALys [K]1395
382477751565 rs771361508 0.000 synonymousGLys [K]3396
contig referenceALys [K]3396
382477771567 rs774968835 0.000 missenseGArg [R]2397
contig referenceTLeu [L]2397
382477951585 rs763953268 N.D. missenseGCys [C]2403
contig referenceTPhe [F]2403
382477971587 rs1434976446 N.D. missenseAAsn [N]1404
contig referenceGAsp [D]1404
382477981588 rs1037978632 N.D. missenseGGly [G]2404
contig referenceAAsp [D]2404
382478011591 rs759786106 0.000 missenseCThr [T]2405
contig referenceTIle [I]2405
382478061596 rs767990576 0.000 missenseCGln [Q]1407
contig referenceGGlu [E]1407
382478111601 rs775675833 0.000 synonymousALys [K]3408
contig referenceGLys [K]3408
382478181608 rs751272138 0.000 missenseAIle [I]1411
contig referenceGVal [V]1411
382478271617 rs188991019 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseALys [K]1414
contig referenceGGlu [E]1414
382497091627 rs376393703 0.000byCluster YesmissenseAAsp [D]2417
contig referenceCAla [A]2417
382497131631 rs1445658991 N.D. synonymousGLeu [L]3418
contig referenceALeu [L]3418
382497221640 rs1248804570 N.D. missenseAGlu [E]3421
contig referenceCAsp [D]3421
382497231641 rs746455223 0.000byFreq nonsenseT1422
contig referenceCArg [R]1422
382497241642 rs1456985763 N.D. missenseAGln [Q]2422
contig referenceGArg [R]2422
382497281646 rs772259188 0.000 missenseGGlu [E]3423
contig referenceTAsp [D]3423
382497371655 rs775845911 0.000 synonymousGGlu [E]3426
contig referenceAGlu [E]3426
382497391657 rs760837688 0.000byFreq missenseCThr [T]2427
contig referenceTIle [I]2427
382497401658 rs1229664452 N.D. missenseGMet [M]3427
contig referenceAIle [I]3427
382497531671 rs768897430 0.000 missenseAArg [R]1432
contig referenceGGly [G]1432
382497581676 rs1019701843 N.D. synonymousGPro [P]3433
contig referenceAPro [P]3433
382497621680 rs1229829230 N.D. missenseGGlu [E]1435
contig referenceALys [K]1435
382497631681 rs776877787 0.000 missenseGArg [R]2435
contig referenceALys [K]2435
382497641682 rs372509717 0.000byClusterbyFreq YesmissenseCAsn [N]3435
synonymousALys [K]3435
contig referenceGLys [K]3435
382497651683 rs751444042 0.000byFreq missenseCGln [Q]1436
contig referenceALys [K]1436
382497681686 rs367891748 0.000byCluster YesmissenseGVal [V]1437
contig referenceAIle [I]1437
382497711689 rs1256190886 N.D. missenseAIle [I]1438
synonymousCLeu [L]1438
contig referenceTLeu [L]1438
382497731691 rs767358212 0.000byFreq missenseCPhe [F]3438
synonymousGLeu [L]3438
contig referenceALeu [L]3438
382497761694 rs1183091304 N.D. missenseGLys [K]3439
contig referenceCAsn [N]3439
382497771695 rs1237413895 N.D. missenseCHis [H]1440
contig referenceTTyr [Y]1440
382497781696 rs752574924 0.000byFreq missenseGCys [C]2440
contig referenceATyr [Y]2440
382497821700 rs1183950102 N.D. synonymousTPhe [F]3441
contig referenceCPhe [F]3441
382497831701 rs1415163373 N.D. missenseGGly [G]1442
contig referenceASer [S]1442
382497851703 rs756016537 0.000 synonymousTSer [S]3442
contig referenceCSer [S]3442
382497861704 rs777549177 0.000 missenseGAla [A]1443
contig referenceAThr [T]1443
382497871705 rs753604679 0.000 missenseTIle [I]2443
contig referenceCThr [T]2443
382497921710 rs756719052 0.000 missenseGGlu [E]1445
contig referenceALys [K]1445
382497931711 rs1185600857 N.D. missenseGArg [R]2445
contig referenceALys [K]2445
382497941712 rs930575737 N.D. missenseTAsn [N]3445
contig referenceALys [K]3445
382497951713 rs1333356650 N.D. missenseCHis [H]1446
contig referenceAAsn [N]1446
382497961714 rs778490401 0.000 missenseGSer [S]2446
contig referenceAAsn [N]2446
382497971715 rs746303011 0.000 missenseALys [K]3446
contig referenceCAsn [N]3446
382497991717 rs772655754 0.000 missenseTLeu [L]2447
contig referenceCSer [S]2447
382498011719 rs150297742 0.000byClusterbyFreq YesmissenseCLeu [L]1448
missenseGVal [V]1448
contig referenceAMet [M]1448
382498021720 rs1218195564 N.D. missenseCThr [T]2448
contig referenceTMet [M]2448
382519121722 rs199730711 0.000byClusterbyFreq missenseTCys [C]1449
contig referenceGGly [G]1449
382519131723 rs574330866 0.000byFreqWith1000GenomeData0.0002 missenseAAsp [D]2449
missenseTVal [V]2449
contig referenceGGly [G]2449
382519151725 rs541849444 0.001byFreqWith1000GenomeData0.0004 missenseGVal [V]1450
contig referenceAIle [I]1450
382519211731 rs1441907100 N.D. synonymousCArg [R]1452
contig referenceAArg [R]1452
382519241734 rs1198200545 N.D. missenseGAla [A]1453
contig referenceCPro [P]1453
382519241734 rs1236605272 N.D. -1454
382519261736 rs748667004 0.000byFreq frame shift-Pro [P]3454
contig referenceAGAla [A]3454
382519281738 rs1005295323 N.D. missenseAAsp [D]2454
contig referenceCAla [A]2454
382519291739 rs771195297 0.000 synonymousGAla [A]3454
synonymousTAla [A]3454
contig referenceCAla [A]3454
382519291739 rs772518954 0.000byFreq frame shift-Ser [S]3455
contig referenceCCCGPro [P]3455
382519311741 rs200605990 0.000byClusterWith1000GenomeData0.0002 missenseTLeu [L]2455
contig referenceCPro [P]2455
382519321742 rs199597606 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAPro [P]3455
synonymousCPro [P]3455
synonymousTPro [P]3455
contig referenceGPro [P]3455
382519341744 rs1174123143 N.D. missenseCPro [P]2456
contig referenceAGln [Q]2456
382519351745 rs763925212 0.000 missenseCHis [H]3456
contig referenceGGln [Q]3456
382519361746 rs776508080 0.000 missenseAThr [T]1457
contig referenceCPro [P]1457
382519371747 rs1299776240 N.D. missenseGArg [R]2457
contig referenceCPro [P]2457
382519411751 rs1379926187 N.D. synonymousCAla [A]3458
contig referenceTAla [A]3458
382519441754 rs761333149 0.000 synonymousGSer [S]3459
contig referenceASer [S]3459
382519451755 rs1185102578 N.D. missenseCArg [R]1460
contig referenceGGly [G]1460
382519461756 rs764911554 0.000 missenseAGlu [E]2460
contig referenceGGly [G]2460
382519471757 rs750091763 0.000 synonymousAGly [G]3460
contig referenceGGly [G]3460
382519491759 rs201386329 0.000byClusterbyFreq missenseTVal [V]2461
contig referenceCAla [A]2461
382519501760 rs1400178435 N.D. synonymousGAla [A]3461
contig referenceAAla [A]3461
382519511761 rs868225570 N.D. frame shiftCThr [T]1462
contig reference-Asn [N]1462
382519521762 rs867389476 N.D.byCluster frame shiftCHis [H]2463
contig reference-Ile [I]2463
382519531763 rs137874590 0.000byClusterbyFreq synonymousTAsn [N]3462
contig referenceCAsn [N]3462
382519541764 rs148088581 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseGVal [V]1463
contig referenceAIle [I]1463
382519571767 rs1353606371 N.D. missenseGAla [A]1464
contig referenceCPro [P]1464
382519661776 rs1238654484 N.D. missenseCPro [P]1467
contig referenceTSer [S]1467
382519691779 rs369110748 0.000byClusterbyFreq missenseALys [K]1468
contig referenceGGlu [E]1468
382519761786 rs372844778 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTPhe [F]2470
contig referenceGCys [C]2470
382519771787 rs1208805797 N.D. synonymousTCys [C]3470
contig referenceCCys [C]3470
382519811791 rs1359147675 N.D. missenseTCys [C]1472
contig referenceASer [S]1472
382519821792 rs770759164 N.D. missenseTIle [I]2472
contig referenceGSer [S]2472
382519901800 rs748519273 0.000 missenseCPro [P]1475
contig referenceAThr [T]1475
382519941804 rs756488480 0.000 missenseALys [K]2476
missenseTIle [I]2476
contig referenceGArg [R]2476
382519961806 rs776202683 N.D. missenseGAsp [D]1477
contig referenceAAsn [N]1477
382520051815 rs1193710221 N.D. missenseCHis [H]1480
contig referenceTTyr [Y]1480
382520061816 rs759168128 0.000 missenseGCys [C]2480
contig referenceATyr [Y]2480
382520151825 rs1258523026 N.D. missenseCAla [A]2483
contig referenceTVal [V]2483
382520231833 rs149644407 0.000byCluster missenseAArg [R]1486
contig referenceGGly [G]1486
382520251835 rs1160407819 N.D. synonymousTGly [G]3486
contig referenceGGly [G]3486
382520271837 rs1364118825 N.D. missenseGArg [R]2487
contig referenceAGln [Q]2487
382521321839 rs1228439778 N.D. missenseAMet [M]1488
contig referenceGVal [V]1488
382521461853 rs755434256 0.000byFreq synonymousTTyr [Y]3492
contig referenceCTyr [Y]3492
382521471854 rs547550120 0.000With1000GenomeData0.0002 missenseTSer [S]1493
contig referenceCPro [P]1493
382521481855 rs753206667 0.000byFreq missenseGArg [R]2493
contig referenceCPro [P]2493
382521501857 rs756500201 0.000byClusterbyFreq missenseTTrp [W]1494
contig referenceCArg [R]1494
382521511858 rs146163106 0.000byClusterbyFreq missenseAGln [Q]2494
contig referenceGArg [R]2494
382521551862 rs754058520 0.000 synonymousTLeu [L]3495
contig referenceCLeu [L]3495
382521601867 rs757576681 0.000 missenseGCys [C]2497
contig referenceATyr [Y]2497
382521611868 rs779097636 0.000 synonymousCTyr [Y]3497
contig referenceTTyr [Y]3497
382521671874 rs913268897 N.D. synonymousGPro [P]3499
contig referenceAPro [P]3499
382521711878 rs745911961 0.000 missenseCLeu [L]1501
contig referenceAIle [I]1501
382521721879 rs1397833145 N.D. missenseCThr [T]2501
contig referenceTIle [I]2501
382521741881 rs1423325300 N.D. missenseCLeu [L]1502
contig referenceTPhe [F]1502
382521841891 rs1396002402 N.D. missenseGCys [C]2505
contig referenceTPhe [F]2505
382521881895 rs772327460 0.000 synonymousTGly [G]3506
contig referenceAGly [G]3506
382521901897 rs1203518272 N.D. missenseGCys [C]2507
contig referenceCSer [S]2507
382521951902 rs781175855 0.000 missenseGVal [V]1509
contig referenceAIle [I]1509
382521961903 rs748099521 0.000byFreq missenseCThr [T]2509
contig referenceTIle [I]2509
382522011908 rs1195923225 N.D. missenseGVal [V]1511
contig referenceAMet [M]1511
382522041911 rs769564368 0.000 missenseCLeu [L]1512
contig referenceTPhe [F]1512
382522071914 rs1315461004 N.D. missenseGVal [V]1513
contig referenceCLeu [L]1513
382522081915 rs1199968632 N.D. missenseGArg [R]2513
contig referenceTLeu [L]2513
382522111918 rs772893537 0.000 missenseGSer [S]2514
contig referenceCThr [T]2514
382522131920 rs1482866862 N.D. missenseAIle [I]1515
contig referenceGVal [V]1515
382522141921 rs762540634 0.000 missenseGGly [G]2515
contig referenceTVal [V]2515
382522171924 rs1475417610 N.D. missenseAGln [Q]2516
missenseCPro [P]2516
contig referenceGArg [R]2516
382522231930 rs773597830 0.000 frame shiftALys [K]2520
contig reference-Arg [R]2520
382522241931 rs774043053 0.000byFreq synonymousGLeu [L]3518
contig referenceALeu [L]3518
382522261933 rs759036948 0.000 missenseCThr [T]2519
contig referenceALys [K]2519
382522281935 rs767005420 0.000 missenseGGly [G]1520
contig referenceAArg [R]1520
382522291936 rs753184836 0.000 missenseCThr [T]2520
contig referenceGArg [R]2520
382522341941 rs761102128 0.000 missenseAAsn [N]1522
contig referenceGAsp [D]1522
382522371944 rs764473228 0.000 missenseAThr [T]1523
contig referenceCPro [P]1523
382522411948 rs1377582165 N.D. missenseGSer [S]2524
contig referenceAAsn [N]2524
382522441951 rs370811347 0.000byClusterbyFreq missenseGCys [C]2525
contig referenceATyr [Y]2525
382522451952 rs139004425 0.000byClusterbyFreq synonymousTTyr [Y]3525
contig referenceCTyr [Y]3525
382522461953 rs1318016430 N.D. missenseGGly [G]1526
contig referenceAArg [R]1526
382522481955 rs1337953203 N.D. missenseTSer [S]3526
contig referenceAArg [R]3526
382522501957 rs777959872 N.D. missenseGCys [C]2527
contig referenceTPhe [F]2527
382522521959 rs559842540 0.000With1000GenomeData0.0002 missenseTSer [S]1528
contig referenceCPro [P]1528
382522551962 rs750732459 0.000 missenseGAla [A]1529
contig referenceAThr [T]1529
382522561963 rs758497992 0.000byFreq missenseALys [K]2529
missenseTMet [M]2529
contig referenceCThr [T]2529
382522571964 rs141814412 0.001byClusterbyFreqWith1000GenomeData0.0010 synonymousAThr [T]3529
synonymousCThr [T]3529
synonymousTThr [T]3529
contig referenceGThr [T]3529
382522651972 rs1257706640 N.D. TTTPhe [F]2534
382522741981 rs777500657 0.000byCluster missenseGSer [S]2535
contig referenceAAsn [N]2535
382522761983 rs749047442 0.000 missenseCLeu [L]1536
contig referenceAIle [I]1536
382522821989 rs974691259 N.D. missenseTTyr [Y]1538
contig referenceCHis [H]1538
382522841991 rs770774468 0.000 synonymousTHis [H]3538
contig referenceCHis [H]3538
382522861993 rs773992438 0.000 missenseTLeu [L]2539
contig referenceCPro [P]2539
382522871994 rs1188529560 N.D. synonymousGPro [P]3539
contig referenceTPro [P]3539
382527251998 rs775248902 0.000 missenseAAsn [N]1541
contig referenceGAsp [D]1541
382527302003 rs1402823456 N.D. synonymousCPro [P]3542
contig referenceTPro [P]3542
382527312004 rs746480457 0.000byFreq missenseAMet [M]1543
contig referenceGVal [V]1543
382527352008 rs1321537746 N.D. missenseTVal [V]2544
contig referenceCAla [A]2544
382527382011 rs962090850 N.D. missenseGCys [C]2545
contig referenceATyr [Y]2545
382527392012 rs981251881 N.D. synonymousCTyr [Y]3545
contig referenceTTyr [Y]3545
382527482021 rs1456106124 N.D. synonymousGGlu [E]3548
contig referenceAGlu [E]3548
382527522025 rs187350175 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCLeu [L]1550
missenseGVal [V]1550
contig referenceAMet [M]1550
382527652038 rs762412967 0.000 missenseAGlu [E]2554
contig referenceGGly [G]2554
382527662039 rs929696583 N.D. synonymousGGly [G]3554
contig referenceAGly [G]3554
382527682041 rs1306998187 N.D. missenseCAla [A]2555
contig referenceTVal [V]2555
382527812054 rs199753572 0.000byClusterbyFreq synonymousGPro [P]3559
contig referenceAPro [P]3559
382527822055 rs773731319 0.000byFreq missenseGVal [V]1560
missenseTLeu [L]1560
contig referenceAMet [M]1560
382527912064 rs563266803 0.000byCluster missenseTSer [S]1563
contig referenceCPro [P]1563
382527922065 rs766474985 0.000byFreq missenseAGln [Q]2563
missenseTLeu [L]2563
contig referenceCPro [P]2563
382527992072 rs755011787 0.000 synonymousCHis [H]3565
contig referenceTHis [H]3565
382528032076 rs1045401332 N.D. missenseCArg [R]1567
contig referenceGGly [G]1567
382528062079 rs1275073307 N.D. missenseGGly [G]1568
contig referenceAArg [R]1568
382528122085 rs906890512 N.D. missenseTTrp [W]1570
contig referenceCArg [R]1570
382528132086 rs767592646 0.000 missenseAGln [Q]2570
contig referenceGArg [R]2570
382528172090 rs753720752 0.000 missenseAIle [I]3571
contig referenceGMet [M]3571
382529592100 rs1209586338 N.D. missenseGVal [V]1575
contig referenceCLeu [L]1575
382529632104 rs759820228 0.000 missenseALys [K]2576
missenseCThr [T]2576
contig referenceGArg [R]2576
382529672108 rs748280676 0.000 missenseCAsp [D]3577
contig referenceGGlu [E]3577
382529792120 rs1030394992 N.D. synonymousAArg [R]3581
contig referenceGArg [R]3581
382529802121 rs375064450 0.000byClusterbyFreq missenseTLeu [L]1582
contig referenceAMet [M]1582
382529842125 rs1426451575 N.D. missenseAAsn [N]2583
contig referenceGSer [S]2583
382529852126 rs760786433 0.000 synonymousCSer [S]3583
contig referenceTSer [S]3583
382529882129 rs765137700 0.000byFreq missenseAIle [I]3584
contig referenceGMet [M]3584
382529942135 rs1416401627 N.D. synonymousGLeu [L]3586
contig referenceTLeu [L]3586
382530062147 rs369671137 0.000byClusterbyFreq synonymousALeu [L]3590
contig referenceGLeu [L]3590
382530072148 rs758122725 0.000byCluster missenseAIle [I]1591
contig referenceCLeu [L]1591
382530092150 rs185319138 0.000With1000GenomeData0.0002 synonymousGLeu [L]3591
contig referenceALeu [L]3591
382530112152 rs973955442 N.D. missenseCAla [A]2592
contig referenceGGly [G]2592
382530142155 rs371592123 0.000byClusterbyFreq missenseTLeu [L]2593
contig referenceCSer [S]2593
382530152156 rs751112891 0.000byFreq synonymousASer [S]3593
contig referenceGSer [S]3593
382530192160 rs1215601645 N.D. missenseTTrp [W]1595
contig referenceCArg [R]1595
382530202161 rs754698552 0.000byFreq missenseAGln [Q]2595
missenseCPro [P]2595
contig referenceGArg [R]2595
382530222163 rs200798674 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTLeu [L]1596
contig referenceAMet [M]1596
382530242165 rs769473577 0.000 missenseAIle [I]3596
contig referenceGMet [M]3596
382530252166 rs929796596 N.D. missenseTSer [S]1597
contig referenceGAla [A]1597
382530262167 rs1258702075 N.D. missenseGGly [G]2597
contig referenceCAla [A]2597
382530322173 rs1487744193 N.D. missenseGArg [R]2599
contig referenceALys [K]2599
382530332174 rs1190602641 N.D. synonymousALys [K]3599
contig referenceGLys [K]3599
382530352176 rs1312739762 N.D. frame shiftTTyr [Y]2602
contig reference-Thr [T]2602
382530392180 rs1243302268 N.D. missenseALeu [L]3601
synonymousCPhe [F]3601
contig referenceTPhe [F]3601
382530452186 rs1475456433 N.D. missenseTSer [S]3603
contig referenceAArg [R]3603
382530512192 rs1217285131 N.D. synonymousGPro [P]3605
contig referenceAPro [P]3605
382530532194 rs765248496 0.000 frame shiftG2606
contig reference-Tyr [Y]2606
382530562197 rs1369916851 N.D. missenseAHis [H]2607
contig referenceCPro [P]2607
382530622203 rs1393193179 N.D. nonsenseA2609
contig referenceTLeu [L]2609
382530642205 rs1309535763 N.D. missenseALys [K]1610
contig referenceCGln [Q]1610
382530702211 rs142193606 0.000byClusterbyFreq missenseGAla [A]1612
contig referenceTSer [S]1612
382530802221 rs372521925 0.000byCluster missenseTLeu [L]2615
contig referenceCPro [P]2615
382530812222 rs771147149 0.000 synonymousGPro [P]3615
contig referenceAPro [P]3615
382530842225 rs774803395 0.000 missenseTAsp [D]3616
contig referenceAGlu [E]3616
382530902231 rs377019616 0.000byCluster synonymousCThr [T]3618
contig referenceTThr [T]3618
382530932234 rs772252400 0.000 synonymousGGlu [E]3619
contig referenceAGlu [E]3619
382530962237 rs1431556739 N.D. synonymousGAla [A]3620
contig referenceAAla [A]3620
382530972238 rs1274405438 N.D. missenseALys [K]1621
contig referenceGGlu [E]1621
382531012242 rs879701049 N.D. missenseTLeu [L]2622
contig referenceCPro [P]2622
382531022243 rs1360272932 N.D. synonymousCPro [P]3622
contig referenceTPro [P]3622
382531052246 rs775739636 0.000byFreq synonymousGGlu [E]3623
contig referenceAGlu [E]3623
382531092250 rs369779587 0.000byClusterbyFreq missenseCPro [P]1625
contig referenceAThr [T]1625
382531112252 rs764301922 0.000 synonymousCThr [T]3625
contig referenceTThr [T]3625
382531152256 rs937043841 N.D. missenseALys [K]1627
contig referenceGGlu [E]1627
382531162257 rs750261250 0.000 missenseGGly [G]2627
contig referenceAGlu [E]2627
382531192260 rs762961711 0.000 missenseGArg [R]2628
contig referenceALys [K]2628
382531242265 rs1285927295 N.D. missenseTCys [C]1630
contig referenceASer [S]1630
382535582271 rs1244593416 N.D. missenseAIle [I]1632
contig referenceGVal [V]1632
382535602273 rs1364213672 N.D. synonymousAVal [V]3632
contig referenceTVal [V]3632
382535642277 rs747235685 0.000 missenseCPro [P]1634
contig referenceAThr [T]1634
382535652278 rs768559288 0.000byFreq missenseTIle [I]2634
contig referenceCThr [T]2634
382535672280 rs371076038 0.000byCluster missenseALys [K]1635
contig referenceGGlu [E]1635
382535722285 rs1002694223 N.D. missenseCAsp [D]3636
contig referenceGGlu [E]3636
382535752288 rs1460992585 N.D. synonymousTThr [T]3637
contig referenceCThr [T]3637
382535792292 rs1035518782 N.D. missenseAMet [M]1639
contig referenceGVal [V]1639
382535802293 rs1164519337 N.D. missenseCAla [A]2639
contig referenceTVal [V]2639
382535852298 rs762759310 0.000byFreq missenseAIle [I]1641
contig referenceGVal [V]1641
382535862299 rs74861669 0.000byCluster missenseGGly [G]2641
contig referenceTVal [V]2641
382535872300 rs958442410 N.D. synonymousGVal [V]3641
contig referenceTVal [V]3641
382535882301 rs750288864 0.000 -1642
382535892302 rs755956939 0.000 -2644
382535952308 rs774475220 0.000 missenseTVal [V]2644
contig referenceAGlu [E]2644
382535992312 rs146362162 0.000byCluster synonymousTVal [V]3645
contig referenceCVal [V]3645
382536022315 rs767484541 0.000byFreq synonymousTLeu [L]3646
contig referenceGLeu [L]3646
382536062319 rs1055418674 N.D. missenseGVal [V]1648
contig referenceAIle [I]1648
382536092322 rs1434641285 N.D. missenseGAsp [D]1649