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SNP linked to Gene (geneID:443) 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): 3
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_001128085.1plus strandNP_001121557.1forwardNT_010718.17GRCh38.p7View snp on GeneModel
XM_017024661.1plus strandXP_016880150.1forwardNT_010718.17GRCh38.p7View snp on GeneModel
NM_000049.2plus strandNP_000040.1forwardNT_010718.17GRCh38.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_010718.16NM_001128085.1NP_001121557.1forwardplus strand302, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Clinically
Associated
Clinical
Significance
Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
347616193 rs1057516879 N.D.byCluster Likely pathogenicmissenseCThr [T]21
contig referenceTMet [M]21
3476169101 rs142041344 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCArg [R]14
contig referenceTCys [C]14
3476174106 rs749703107 0.000 missenseAGln [Q]35
contig referenceCHis [H]35
3476175107 rs1407260281 N.D. missenseGVal [V]16
contig referenceAIle [I]16
3476176108 rs1365035295 N.D. missenseCThr [T]26
missenseGSer [S]26
contig referenceTIle [I]26
3476178110 rs1440803660 N.D. missenseAThr [T]17
contig referenceGAla [A]17
3476179111 rs1173584413 N.D. missenseAAsp [D]27
contig referenceCAla [A]27
3476181113 rs771462341 0.000 missenseALys [K]18
contig referenceGGlu [E]18
3476184116 rs1483554951 N.D. missenseCGln [Q]19
contig referenceGGlu [E]19
3476189121 rs779344515 0.000 synonymousCHis [H]310
contig referenceTHis [H]310
3476191123 rs745917743 0.000 missenseCThr [T]211
contig referenceTIle [I]211
3476191123 rs767666474 0.000byCluster Likely pathogenicframe shift-Asn [N]211
contig referenceTIle [I]211
3476192124 rs772315191 0.000byFreq missenseGMet [M]311
contig referenceAIle [I]311
3476197129 rs775814453 0.000byFreq missenseCThr [T]213
contig referenceALys [K]213
3476199131 rs1359412629 N.D. missenseAIle [I]114
contig referenceGVal [V]114
3476200132 rs1336464884 N.D. missenseCAla [A]214
contig referenceTVal [V]214
3476205137 rs575183078 0.000byFreqWith1000GenomeData0.0002 missenseGVal [V]116
contig referenceAIle [I]116
3476206138 rs769653717 0.000byFreq missenseCThr [T]216
contig referenceTIle [I]216
3476220152 rs773063268 0.000 missenseTTyr [Y]121
contig referenceCHis [H]121
3476223155 rs1212749933 N.D. missenseAArg [R]122
contig referenceGGly [G]122
3476224156 rs1256380639 N.D. missenseAGlu [E]222
contig referenceGGly [G]222
3476230162 rs104894551 N.D.byCluster YesPathogenicmissenseGGly [G]224
contig referenceAGlu [E]224
3476236168 rs1480068143 N.D. missenseAAsn [N]226
contig referenceCThr [T]226
3476237169 rs145616193 0.000byClusterbyFreq YessynonymousTThr [T]326
contig referenceCThr [T]326
3476238170 rs766328537 0.000byClusterbyFreq PathogenicmissenseAArg [R]127
contig referenceGGly [G]127
3476239171 rs1457802163 N.D. missenseTVal [V]227
contig referenceGGly [G]227
3476241173 rs1306475822 N.D. missenseAIle [I]128
contig referenceGVal [V]128
3476249181 rs774204090 0.000 synonymousALeu [L]330
contig referenceGLeu [L]330
3476257189 rs138158568 0.000byClusterbyFreq YesmissenseGArg [R]233
contig referenceAHis [H]233
3476272204 rs1456006856 N.D. missenseAAsp [D]238
missenseCAla [A]238
contig referenceGGly [G]238
3476273205 rs767049011 0.000byFreq synonymousTGly [G]338
contig referenceCGly [G]338
3476274206 rs544167597 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseAThr [T]139
contig referenceGAla [A]139
3476298230 rs755779424 0.000 missenseCGln [Q]147
contig referenceGGlu [E]147
3476307239 rs1404225009 N.D. missenseTSer [S]150
contig referenceCPro [P]150
3476309241 rs763718422 0.000 synonymousGPro [P]350
contig referenceAPro [P]350
3476310242 rs754214996 0.000 missenseCLeu [L]151
contig referenceTPhe [F]151
3476313245 rs1391304889 N.D. missenseCLeu [L]152
missenseGVal [V]152
contig referenceAIle [I]152
3476316248 rs17850703 N.D. YesmissenseGAla [A]153
contig referenceAThr [T]153
3476319251 rs757607501 0.000byFreq missenseCHis [H]154
contig referenceAAsn [N]154
3476321253 rs779440632 0.000byFreq missenseALys [K]354
contig referenceCAsn [N]354
3476322254 rs560983907 0.000With1000GenomeData0.0002 missenseAThr [T]155
contig referenceCPro [P]155
3476325257 rs758502972 0.000 synonymousCArg [R]156
contig referenceAArg [R]156
3476330262 rs1301668898 N.D. synonymousGAla [A]357
contig referenceAAla [A]357
3476331263 rs780293263 0.000 missenseAMet [M]158
contig referenceGVal [V]158
3476339271 rs747159862 0.000 missenseCAsn [N]360
contig referenceGLys [K]360
3476354286 rs1252665222 N.D. synonymousCIle [I]365
contig referenceTIle [I]365
3476359291 rs768920473 0.000 missenseATyr [Y]267
contig referenceGCys [C]267
3476361293 rs1212502643 N.D. missenseTTyr [Y]168
contig referenceGAsp [D]168
3476365297 rs776777887 0.000 missenseGArg [R]269
contig referenceTLeu [L]269
3476368300 rs1470172490 N.D. missenseGSer [S]270
contig referenceAAsn [N]270
3476370302 rs1192320601 N.D. missenseTCys [C]171
contig referenceCArg [R]171
3476371303 rs104894553 0.000byClusterbyFreq YesPathogenicmissenseAHis [H]271
contig referenceGArg [R]271
3476377309 rs1473408988 N.D. missenseCSer [S]273
contig referenceTPhe [F]273
3476382314 rs770672838 0.000byFreq missenseAIle [I]175
missenseTPhe [F]175
contig referenceCLeu [L]175
3476386318 rs1309186352 N.D. missenseGGly [G]276
contig referenceAGlu [E]276
3476389321 rs574328488 0.000byFreqWith1000GenomeData0.0006 missenseGSer [S]277
contig referenceAAsn [N]277
3476390322 rs759496696 0.000 synonymousCAsn [N]377
contig referenceTAsn [N]377
3476394326 rs1451412419 N.D. missenseASer [S]179
contig referenceGGly [G]179
3476395327 rs1461175227 N.D. missenseTVal [V]279
contig referenceGGly [G]279
3481603328 rs756198538 0.000 frame shiftAAsn [N]382
contig reference-Met [M]382
3481607332 rs748350846 0.000byFreq missenseGGlu [E]181
contig referenceALys [K]181
3481610335 rs786204620 N.D. Likely pathogenicframe shift-Val [V]182
contig referenceATMet [M]182
3481610335 rs1057516583 N.D. Likely pathogenicframe shiftAAsn [N]182
contig reference-Met [M]182
3481611336 rs80099330 0.003byClusterbyFreqWith1000GenomeData0.0044 YesLikely benignmissenseCThr [T]282
contig referenceTMet [M]282
3481611336 rs1057516962 N.D. Likely pathogenicframe shift-Ser [S]282
contig referenceTMet [M]282
3481612337 rs1397679837 N.D. (9bp) [SED]385
3481615340 rs778697611 0.000 synonymousGSer [S]383
contig referenceASer [S]383
3481615340 rs1405992993 N.D. -384
3481621346 rs745742726 0.000byFreq missenseGGlu [E]385
contig referenceTAsp [D]385
3481626351 rs771980559 0.000byFreq missenseTLeu [L]287
contig referenceCPro [P]287
3481628353 rs775451292 0.000byFreq missenseAAsn [N]188
missenseCHis [H]188
contig referenceTTyr [Y]188
3481629354 rs760198587 0.000 missenseGCys [C]288
contig referenceATyr [Y]288
3481634359 rs768079252 0.000 missenseAMet [M]190
contig referenceGVal [V]190
3481642367 rs776297759 0.000byFreq missenseCSer [S]392
synonymousAArg [R]392
contig referenceGArg [R]392
3481645370 rs144639820 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousCAla [A]393
contig referenceTAla [A]393
3481648373 rs750812337 0.000byFreq missenseTHis [H]394
contig referenceAGln [Q]394
3481650375 rs1422127446 N.D. missenseGGly [G]295
contig referenceAGlu [E]295
3481654379 rs1305744939 N.D. synonymousCIle [I]396
contig referenceAIle [I]396
3481655380 rs1413236590 N.D. missenseGAsp [D]197
contig referenceAAsn [N]197
3481656381 rs763469507 0.000 missenseGSer [S]297
contig referenceAAsn [N]297
3481657382 rs1018556148 N.D. synonymousCAsn [N]397
contig referenceTAsn [N]397
3481658383 rs1236611105 N.D. missenseTTyr [Y]198
contig referenceCHis [H]198
3481660385 rs766971539 0.000byCluster synonymousCHis [H]398
contig referenceTHis [H]398
3481664389 rs902590807 N.D. missenseAIle [I]1100
contig referenceTPhe [F]1100
3481667392 rs752153847 0.000 missenseTCys [C]1101
contig referenceGGly [G]1101
3481669394 rs999563868 N.D. synonymousAGly [G]3101
contig referenceTGly [G]3101
3481671396 rs1371223004 N.D. missenseAGln [Q]2102
contig referenceCPro [P]2102
3481672397 rs1209227358 N.D. frame shift-Arg [R]3103
contig referenceAALys [K]3103
3481675400 rs922754514 N.D. synonymousGLys [K]3103
contig referenceALys [K]3103
3481677402 rs1321065570 N.D. missenseGGly [G]2104
contig referenceAAsp [D]2104
3481681406 rs866030859 N.D. synonymousCSer [S]3105
contig referenceTSer [S]3105
3481687412 rs575699339 0.000With1000GenomeData0.0002 synonymousCAsp [D]3107
contig referenceTAsp [D]3107
3481687412 rs1289890879 N.D. frame shift-Leu [L]3108
contig referenceTTSer [S]3108
3481690415 rs1032323308 N.D. synonymousTSer [S]3108
contig referenceCSer [S]3108
3481692417 rs1229569874 N.D. missenseGCys [C]2109
contig referenceATyr [Y]2109
3481694419 rs781156670 0.000byFreq missenseCHis [H]1110
contig referenceGAsp [D]1110
3481696421 rs752909030 0.000 synonymousTAsp [D]3110
contig referenceCAsp [D]3110
3481697422 rs181347986 0.000byClusterbyFreqWith1000GenomeData YesmissenseCLeu [L]1111
missenseGVal [V]1111
contig referenceAIle [I]1111
3481698423 rs1332529012 N.D. missenseCThr [T]2111
contig referenceTIle [I]2111
3481706431 rs1446467099 N.D. missenseTTyr [Y]1114
contig referenceGAsp [D]1114
3481717442 rs545221824 N.D. synonymousTAsn [N]3117
contig referenceCAsn [N]3117
3481722447 rs778039536 0.000 missenseTIle [I]2119
contig referenceCThr [T]2119
3481726451 rs745636571 0.000 synonymousCSer [S]3120
contig referenceTSer [S]3120
3481727452 rs148451498 0.000byCluster YesmissenseGAsp [D]1121
contig referenceAAsn [N]1121
3481729454 rs1433835279 N.D. synonymousTAsn [N]3121
contig referenceCAsn [N]3121
3481731456 rs779924411 0.000 missenseCThr [T]2122
contig referenceTMet [M]2122
3481732457 rs746938625 0.000 missenseAIle [I]3122
contig referenceGMet [M]3122
3481734459 rs1057521115 N.D.byCluster Likely pathogenicmissenseAGlu [E]2123
contig referenceGGly [G]2123
3481735460 rs768152290 0.000 synonymousAGly [G]3123
contig referenceGGly [G]3123
3481738463 rs1278404446 N.D. synonymousTCys [C]3124
contig referenceCCys [C]3124
3481741466 rs776006406 0.000 synonymousCThr [T]3125
contig referenceTThr [T]3125
3481742467 rs761453285 0.000byFreq missenseGVal [V]1126
contig referenceCLeu [L]1126
3481745470 rs769555860 0.000 missenseTPhe [F]1127
contig referenceAIle [I]1127
3481746471 rs1347873661 N.D. missenseGSer [S]2127
contig referenceTIle [I]2127
3481751476 rs773049803 0.000 missenseALys [K]1129
contig referenceGGlu [E]1129
3481753478 rs763378875 0.000 synonymousAGlu [E]3129
contig referenceGGlu [E]3129
3481756481 rs1440066321 N.D. synonymousCAsp [D]3130
contig referenceTAsp [D]3130
3481758483 rs1443148651 N.D. missenseTPhe [F]2131
contig referenceCSer [S]2131
3481762487 rs766883736 0.000byFreq missenseTSer [S]3132
synonymousAArg [R]3132
contig referenceGArg [R]3132
3481766491 rs373639689 0.000byClusterbyFreq YesmissenseGAsp [D]1134
contig referenceAAsn [N]1134
3481769494 rs759976840 0.000 missenseAIle [I]1135
contig referenceTPhe [F]1135
3481779504 rs767569199 0.000 missenseGArg [R]2138
contig referenceAGln [Q]2138
3481785510 rs1023865498 N.D. missenseCSer [S]2140
contig referenceTPhe [F]2140
3481792517 rs1380839164 N.D. nonsenseA3142
synonymousTTyr [Y]3142
contig referenceCTyr [Y]3142
3481793518 rs199565861 0.001byClusterbyFreqWith1000GenomeData0.0002 YesPathogenicmissenseGVal [V]1143
missenseTPhe [F]1143
contig referenceAIle [I]1143
3481794519 rs777936704 0.000 missenseCThr [T]2143
contig referenceTIle [I]2143
3481798523 rs754087904 0.000byFreq synonymousALys [K]3144
contig referenceGLys [K]3144
3483499524 rs1234180296 N.D. missenseCPro [P]1145
contig referenceAThr [T]1145
3483504529 rs1481780158 N.D. synonymousCSer [S]3146
contig referenceTSer [S]3146
3483509534 rs1167178001 N.D. missenseAAsp [D]2148
missenseTVal [V]2148
contig referenceCAla [A]2148
3483511536 rs376131814 0.000byCluster YesmissenseGAla [A]1149
contig referenceCPro [P]1149
3483513538 rs760702576 0.000byFreq synonymousGPro [P]3149
synonymousTPro [P]3149
contig referenceAPro [P]3149
3483516541 rs753998173 0.000 synonymousTLeu [L]3150
contig referenceALeu [L]3150
3483520545 rs104894548 N.D.byCluster YesPathogenicmissenseCArg [R]1152
contig referenceTCys [C]1152
3483524549 rs1393132479 N.D. missenseGCys [C]2153
contig referenceATyr [Y]2153
3483525550 rs141755746 0.000byClusterbyFreqWith1000GenomeData0.0002 YesnonsenseA3153
synonymousTTyr [Y]3153
contig referenceCTyr [Y]3153
3483526551 rs2228435 0.000byClusterbyFreq YesmissenseAIle [I]1154
contig referenceGVal [V]1154
3483532557 rs751298835 0.000 missenseGVal [V]1156
synonymousTLeu [L]1156
contig referenceCLeu [L]1156
3483533558 rs754850338 0.000 missenseCPro [P]2156
contig referenceTLeu [L]2156
3483536561 rs140357187 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseCThr [T]2157
contig referenceTIle [I]2157
3483544569 rs1342547785 N.D. missenseAThr [T]1160
missenseTSer [S]1160
contig referenceCPro [P]1160
3483549574 rs748149345 0.000byFreq synonymousTSer [S]3161
contig referenceCSer [S]3161
3483553578 rs755639531 0.000 missenseCGln [Q]1163
contig referenceALys [K]1163
3483555580 rs1262479969 N.D. synonymousGLys [K]3163
contig referenceALys [K]3163
3483560585 rs777440893 0.000byFreq missenseTVal [V]2165
contig referenceCAla [A]2165
3483561586 rs1223590231 N.D. synonymousAAla [A]3165
contig referenceGAla [A]3165
3483563588 rs748886721 0.000 missenseGSer [S]2166
contig referenceCThr [T]2166
3483564589 rs1291929523 N.D. synonymousTThr [T]3166
contig referenceCThr [T]3166
3483568593 rs937670540 N.D. missenseTCys [C]1168
contig referenceCArg [R]1168
3483569594 rs770706390 0.000byFreq missenseAHis [H]2168
contig referenceGArg [R]2168
3483572597 rs1260769216 N.D. missenseGCys [C]2169
contig referenceCSer [S]2169
3483575600 rs144321760 0.001byClusterbyFreq YesUncertain significancemissenseCThr [T]2170
contig referenceTIle [I]2170
3483579604 rs1193959233 N.D. synonymousTAla [A]3171
contig referenceCAla [A]3171
3483581606 rs1416785705 N.D. missenseGArg [R]2172
contig referenceALys [K]2172
3483585610 rs1459390009 N.D. synonymousCTyr [Y]3173
contig referenceTTyr [Y]3173
3483589614 rs1164567502 N.D. missenseTLeu [L]1175
contig referenceGVal [V]1175
3489239622 rs1398007051 N.D. missenseGMet [M]3177
contig referenceAIle [I]3177
3489244627 rs745553536 0.000byFreq missenseCAla [A]2179
contig referenceTVal [V]2179
3489245628 rs1438500410 N.D. synonymousCVal [V]3179
contig referenceTVal [V]3179
3489247630 rs1014551540 N.D. missenseTVal [V]2180
contig referenceGGly [G]2180
3489248631 rs1203013371 N.D. synonymousGGly [G]3180
contig referenceTGly [G]3180
3489249632 rs786204572 N.D. Likely pathogenicmissenseAThr [T]1181
contig referenceCPro [P]1181
3489250633 rs1335267315 N.D. missenseGArg [R]2181
contig referenceCPro [P]2181
3489252635 rs1485077012 N.D. nonsenseT1182
contig referenceCGln [Q]1182
3489261644 rs772264936 0.000 missenseAArg [R]1185
contig referenceGGly [G]1185
3489262645 rs780468376 0.000 missenseAGlu [E]2185
contig referenceGGly [G]2185
3489264647 rs1355854398 N.D. missenseAIle [I]1186
contig referenceGVal [V]1186
3489265648 rs747438350 0.000 missenseAAsp [D]2186
missenseCAla [A]2186
contig referenceTVal [V]2186
3489271654 rs1272903968 N.D. missenseALys [K]2188
contig referenceGArg [R]2188
3489273656 rs1301321116 N.D. missenseTSer [S]1189
contig referenceGAla [A]1189
3489277660 rs769136884 0.000 missenseGGly [G]2190
contig referenceAAsp [D]2190
3489278661 rs1233581922 N.D. synonymousCAsp [D]3190
contig referenceTAsp [D]3190
3489280663 rs1214856689 N.D. missenseAAsn [N]2191
contig referenceTIle [I]2191
3489288671 rs1482032907 N.D. nonsenseT1194
contig referenceCGln [Q]1194
3489290673 rs1303623546 N.D. synonymousGGln [Q]3194
contig referenceAGln [Q]3194
3489299682 rs777170306 0.000 missenseTAsn [N]3197
contig referenceALys [K]3197
3489302685 rs1380767447 N.D. missenseAIle [I]3198
contig referenceGMet [M]3198
3489310693 rs761849556 0.000 missenseTLeu [L]2201
contig referenceAHis [H]2201
3489311694 rs769947909 0.000 missenseAGln [Q]3201
synonymousCHis [H]3201
contig referenceTHis [H]3201
3489312695 rs147763700 0.000byCluster YesmissenseTSer [S]1202
contig referenceGAla [A]1202
3489315698 rs763251910 0.000 missenseTPhe [F]1203
contig referenceCLeu [L]1203
3489317700 rs1373623731 N.D. synonymousCLeu [L]3203
contig referenceTLeu [L]3203
3489320703 rs767152579 0.000 synonymousCAsp [D]3204
contig referenceTAsp [D]3204
3489325708 rs752538129 0.000 missenseCThr [T]2206
contig referenceTIle [I]2206
3489329712 rs369805590 0.000byClusterbyFreq YessynonymousCHis [H]3207
contig referenceTHis [H]3207
3489337720 rs1467728458 N.D. missenseGSer [S]2210
contig referenceAAsn [N]2210
3489338721 rs1173352103 N.D. synonymousCAsn [N]3210
contig referenceTAsn [N]3210
3489340723 rs1171994170 N.D. missenseCAla [A]2211
contig referenceAGlu [E]2211
3489341724 rs764104886 0.000 synonymousGGlu [E]3211
contig referenceAGlu [E]3211
3494352728 rs528179434 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseGGlu [E]1213
contig referenceALys [K]1213
3494355731 rs1057516416 N.D. Likely pathogenicnonsenseT1214
contig referenceGGlu [E]1214
3494364740 rs925180640 N.D. missenseTSer [S]1217
contig referenceCPro [P]1217
3494365741 rs1057516498 N.D. Likely pathogenicframe shift-Leu [L]2217
contig referenceCCPro [P]2217
3494369745 rs104894549 0.000byClusterbyFreq YesPathogenicnonsenseA3218
synonymousTCys [C]3218
contig referenceCCys [C]3218
3494370746 rs368622924 0.000byClusterbyFreq YesmissenseAThr [T]1219
contig referenceGAla [A]1219
3494374750 rs139053885 0.000byClusterbyFreq YesmissenseCThr [T]2220
contig referenceTIle [I]2220
3494375751 rs1197247047 N.D. synonymousAIle [I]3220
contig referenceTIle [I]3220
3494386762 rs751242787 0.000byFreq missenseCThr [T]2224
contig referenceALys [K]2224
3494391767 rs755287107 0.000 missenseGVal [V]1226
contig referenceAIle [I]1226
3494392768 rs201887670 0.000byClusterbyFreq YesmissenseALys [K]2226
missenseCThr [T]2226
contig referenceTIle [I]2226
3494395771 rs748538713 0.000 missenseGGly [G]2227
contig referenceAGlu [E]2227
3494398774 rs756641891 0.000 missenseCThr [T]2228
contig referenceALys [K]2228
3494406782 rs778203652 0.000byFreq missenseCHis [H]1231
contig referenceTTyr [Y]1231
3494407783 rs104894550 0.000byCluster YesPathogenicmissenseGCys [C]2231
contig referenceATyr [Y]2231
3494408784 rs12948217 0.390byClusterbyFreqwith2hitWith1000GenomeData0.2037 YesLikely benignnonsenseA3231
nonsenseA3231
synonymousTTyr [Y]3231
synonymousTTyr [Y]3231
contig referenceCTyr [Y]3231
contig referenceCTyr [Y]3231
3494412788 rs367957948 0.000byClusterbyFreq YesmissenseTTrp [W]1233
synonymousAArg [R]1233
contig referenceCArg [R]1233
3494412788 rs1057516315 N.D. Likely pathogenicframe shift-Gly [G]1233
contig referenceCArg [R]1233
3494413789 rs776560292 0.000byFreq missenseAGln [Q]2233
missenseTLeu [L]2233
contig referenceGArg [R]2233
3494414790 rs1347989264 N.D. synonymousCArg [R]3233
contig referenceGArg [R]3233
3494415791 rs1459384444 N.D. missenseAAsn [N]1234
contig referenceGAsp [D]1234
3494418794 rs149842031 0.003byClusterbyFreqWith1000GenomeData0.0046 YesmissenseALys [K]1235
contig referenceGGlu [E]1235
3494422798 rs1359684721 N.D. missenseGSer [S]2236
contig referenceAAsn [N]2236
3494423799 rs149189911 0.000byCluster YessynonymousCAsn [N]3236
contig referenceTAsn [N]3236
3494431807 rs145085349 0.000byClusterbyFreq YesmissenseCThr [T]2239
contig referenceTIle [I]2239
3494439815 rs1340813273 N.D. missenseGVal [V]1242
contig referenceAIle [I]1242
3494443819 rs1227234842 N.D. missenseGSer [S]2243
contig referenceTIle [I]2243
3494446822 rs1057516995 N.D. Likely pathogenicmissenseGArg [R]2244
contig referenceAHis [H]2244
3494448824 rs765897003 0.000 missenseAThr [T]1245
contig referenceCPro [P]1245
3494454830 rs1388861947 N.D. synonymousTLeu [L]1247
contig referenceCLeu [L]1247
3498891836 rs772408129 0.000 missenseAAsn [N]1249
contig referenceGAsp [D]1249
3498892837 rs104894552 0.000byClusterbyFreq YesothermissenseTVal [V]2249
contig referenceAAsp [D]2249
3498899844 rs373410075 0.000byCluster YessynonymousTAsp [D]3251
contig referenceCAsp [D]3251
3498904849 rs1442016687 N.D. missenseGArg [R]2253
contig referenceALys [K]2253
3498907852 rs1191248346 N.D. missenseTLeu [L]2254
contig referenceCPro [P]2254
3498908853 rs1487879866 N.D. synonymousGPro [P]3254
contig referenceAPro [P]3254
3498910855 rs1284682270 N.D. missenseCPro [P]2255
contig referenceTLeu [L]2255
3498915860 rs747943040 0.000 missenseTSer [S]1257
contig referenceCPro [P]1257
3498916861 rs377217076 0.000byClusterbyFreq YesLikely pathogenicmissenseGArg [R]2257
contig referenceCPro [P]2257
3498917862 rs1483599644 N.D. synonymousAPro [P]3257
contig referenceTPro [P]3257
3498919864 rs773153121 0.000 missenseCAla [A]2258
contig referenceGGly [G]2258
3498921866 rs1237477660 N.D. missenseTTyr [Y]1259
contig referenceGAsp [D]1259
3498927872 rs1254935744 N.D. frame shift-Val [V]1261
contig referenceATMet [M]1261
3498929874 rs1223541787 N.D. missenseCIle [I]3261
contig referenceGMet [M]3261
3498934879 rs755061005 N.D. missenseCSer [S]2263
contig referenceTLeu [L]2263
3498939884 rs1347021383 N.D. missenseGVal [V]1265
contig referenceCLeu [L]1265
3498942887 rs761390319 0.000 frame shift-Glu [E]1266
contig referenceGATGGAsp [D]1266
3498942887 rs762812945 0.000 missenseCHis [H]1266
contig referenceGAsp [D]1266
3498943888 rs1380720170 N.D. missenseGGly [G]2266
contig referenceAAsp [D]2266
3498946891 rs1018213095 N.D. missenseAGlu [E]2267
contig referenceGGly [G]2267
3498950895 rs765810524 0.000 synonymousALys [K]3268
contig referenceGLys [K]3268
3498951896 rs1173491692 N.D. missenseGAla [A]1269
missenseTSer [S]1269
contig referenceAThr [T]1269
3498952897 rs773849106 0.000byFreq missenseTMet [M]2269
contig referenceCThr [T]2269
3498953898 rs759106494 0.000byFreq Uncertain significancesynonymousAThr [T]3269
contig referenceGThr [T]3269
3498955900 rs200126822 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCThr [T]2270
contig referenceTIle [I]2270
3498963908 rs1246552707 N.D. missenseASer [S]1273
contig referenceGGly [G]1273
3498965910 rs752336086 0.000byFreq synonymousTGly [G]3273
contig referenceCGly [G]3273
3498966911 rs761064915 0.000byCluster Likely pathogenicmissenseAArg [R]1274
contig referenceGGly [G]1274
3498971916 rs1387223329 N.D. missenseAGlu [E]3275
contig referenceCAsp [D]3275
3498973918 rs1057517085 N.D. Likely pathogenicframe shift-Tyr [Y]2276
contig referenceGTCys [C]2276
3498973918 rs1431542483 N.D. missenseATyr [Y]2276
contig referenceGCys [C]2276
3498976921 rs1168876156 N.D. missenseGSer [S]2277
contig referenceCThr [T]2277
3498977922 rs78677072 0.008byClusterbyFreqWith1000GenomeData0.0090 YesBenign synonymousAThr [T]3277
synonymousGThr [T]3277
synonymousTThr [T]3277
contig referenceCThr [T]3277
3498978923 rs140581464 0.001byClusterbyFreqWith1000GenomeData0.0010 YesmissenseAMet [M]1278
contig referenceGVal [V]1278
3498979924 rs1217871494 N.D. missenseCAla [A]2278
contig referenceTVal [V]2278
3498980925 rs1280988827 N.D. synonymousAVal [V]3278
contig referenceGVal [V]3278
3498981926 rs145717248 0.000byCluster YesmissenseCHis [H]1279
contig referenceTTyr [Y]1279
3498983928 rs1401167358 N.D. nonsenseG3279
contig referenceCTyr [Y]3279
3498984929 rs750505963 0.000byFreq missenseTSer [S]1280
contig referenceCPro [P]1280
3498986931 rs148081446 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTPro [P]3280
contig referenceCPro [P]3280
3498987932 rs141858640 0.000byClusterbyFreq YesmissenseAMet [M]1281
contig referenceGVal [V]1281
3498989934 rs747218271 0.000byFreq synonymousCVal [V]3281
contig referenceGVal [V]3281
3498994939 rs1238769337 N.D. missenseCAla [A]2283
contig referenceTVal [V]2283
3498998943 rs370915844 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousCAsn [N]3284
contig referenceTAsn [N]3284
3499000945 rs28940279 0.001byClusterbyFreq YesPathogenicmissenseCAla [A]2285
contig referenceAGlu [E]2285
3499001946 rs749148738 0.000byFreq synonymousAGlu [E]3285
contig referenceGGlu [E]3285
3499003948 rs1414684396 N.D. missenseAAsp [D]2286
contig referenceCAla [A]2286
3499004949 rs138062143 0.000byClusterbyFreq YessynonymousTAla [A]3286
contig referenceCAla [A]3286
3499005950 rs774323189 0.000byClusterbyFreq Likely pathogenicmissenseAThr [T]1287
contig referenceGAla [A]1287
3499007952 rs759018576 0.000 synonymousGAla [A]3287
contig referenceAAla [A]3287
3499013958 rs375736464 0.000byClusterbyFreq YesLikely pathogenicsynonymousTTyr [Y]3289
contig referenceCTyr [Y]3289
3499014959 rs1331100491 N.D. nonsenseT1290
missenseALys [K]1290
contig referenceGGlu [E]1290
3499016961 rs766720790 0.000 frame shift-Leu [L]3293
contig referenceAAAGGlu [E]3293
3499022967 rs1057517450 N.D. Likely pathogenicframe shift-Leu [L]3293
contig referenceAGAAGlu [E]3293
3499031976 rs1050452949 N.D. synonymousCPhe [F]3295
contig referenceTPhe [F]3295
3499041986 rs775163203 0.000 missenseGAla [A]1299
contig referenceAThr [T]1299
3499044989 rs567712382 0.000With1000GenomeData0.0002 missenseGGlu [E]1300
contig referenceALys [K]1300
3499045990 rs890496947 N.D. missenseGArg [R]2300
contig referenceALys [K]2300
3499047992 rs1256188187 N.D. missenseAIle [I]1301
contig referenceCLeu [L]1301
3499050995 rs1008846130 N.D. missenseGAla [A]1302
contig referenceAThr [T]1302
3499051996 rs763869261 0.000 Uncertain significancemissenseTMet [M]2302
contig referenceCThr [T]2302
3499052997 rs371394875 0.000byClusterbyFreq YesUncertain significancesynonymousAThr [T]3302
contig referenceGThr [T]3302
3499053998 rs1273624188 N.D. missenseTPhe [F]1303
contig referenceCLeu [L]1303
34990551000 rs762310899 0.000 synonymousTLeu [L]3303
contig referenceCLeu [L]3303
34990561001 rs765819351 0.000 missenseGAsp [D]1304
contig referenceAAsn [N]1304
34990581003 rs750991168 0.000byFreq synonymousCAsn [N]3304
contig referenceTAsn [N]3304
34990601005 rs28940574 0.000byClusterbyFreqWith1000GenomeData0.0004 YesPathogenicmissenseAGlu [E]2305
missenseTVal [V]2305
contig referenceCAla [A]2305
34990621007 rs780003521 0.000 missenseGGlu [E]1306
contig referenceALys [K]1306
34990661011 rs1421067148 N.D. missenseCThr [T]2307
contig referenceGSer [S]2307
34990681013 rs555537960 0.000byFreqWith1000GenomeData0.0002 missenseGVal [V]1308
contig referenceAIle [I]1308
34990681013 rs1057516309 N.D. Likely pathogenicframe shift-Phe [F]1308
contig referenceAIle [I]1308
34990701015 rs1057517260 N.D. Likely pathogenicframe shift-Ala [A]3309
contig referenceTArg [R]3309
34990711016 rs755140673 0.000byFreq missenseTCys [C]1309
contig referenceCArg [R]1309
34990721017 rs778121276 0.000byFreq missenseAHis [H]2309
contig referenceGArg [R]2309
34990731018 rs749049390 0.000byFreq Likely benignsynonymousTArg [R]3309
contig referenceCArg [R]3309
34990741019 rs376854191 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGGly [G]1310
contig referenceTCys [C]1310
34990751020 rs1350858778 N.D. missenseATyr [Y]2310
contig referenceGCys [C]2310
34990771022 rs959111875 N.D. missenseCArg [R]1311
contig referenceTCys [C]1311
34990781023 rs1464721895 N.D. missenseATyr [Y]2311
contig referenceGCys [C]2311
34990821027 rs778770959 0.000byFreq missenseTPhe [F]3312
contig referenceALeu [L]3312
34990831028 rs1235868764 N.D. missenseTTyr [Y]1313
contig referenceCHis [H]1313
34990861031 rs1197411084 N.D. frame shiftCSer [S]1314
contig reference-1314
34990871032 rs745832703 0.000 GTrp [W]2314
contig referenceA2314