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dbSNP

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SNP linked to Gene (geneID:64393) 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): 4
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_011513073.1minus strandXP_011511375.1reverseNT_005612.17GRCh38.p7<- currently shown
XM_005247706.2minus strandXP_005247763.1reverseNT_005612.17GRCh38.p7View snp on GeneModel
NM_152240.2minus strandNP_689426.1reverseNT_005612.17GRCh38.p7View snp on GeneModel
NM_022470.3minus strandNP_071915.1reverseNT_005612.17GRCh38.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_005612.17XM_011513073.1XP_011511375.1reverseminus strand255, 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
1790250191199 rs763638864 0.000 CGln [Q]1290
contig referenceT1290
1790250201198 rs753592538 0.000 synonymousGVal [V]3289
contig referenceAVal [V]3289
1790250211197 rs1246359979 N.D. missenseAGlu [E]2289
contig referenceTVal [V]2289
1790250241194 rs1237799609 N.D. missenseGCys [C]2288
contig referenceATyr [Y]2288
1790250281190 rs756864009 0.000 missenseAArg [R]1287
contig referenceGGly [G]1287
1790250441174 rs778428739 0.000 synonymousCAsn [N]3281
contig referenceTAsn [N]3281
1790250481170 rs749920498 0.000 missenseALys [K]2280
contig referenceGArg [R]2280
1790250551163 rs532278040 0.000byClusterbyFreq missenseTTrp [W]1278
contig referenceCArg [R]1278
1790250601158 rs1450131782 N.D. missenseGGly [G]2276
contig referenceAGlu [E]2276
1790250611157 rs908081497 N.D. missenseCGln [Q]1276
contig referenceGGlu [E]1276
1790250661152 rs962180047 N.D. missenseGGly [G]2274
contig referenceTVal [V]2274
1790250671151 rs1170616848 N.D. missenseAMet [M]1274
missenseCLeu [L]1274
missenseTLeu [L]1274
contig referenceGVal [V]1274
1790250701148 rs780575246 0.000 missenseGGlu [E]1273
contig referenceALys [K]1273
1790250721146 rs143081076 0.000byClusterbyFreq missenseAAsn [N]2272
contig referenceGSer [S]2272
1790250831135 rs769069400 0.000 synonymousALys [K]3268
contig referenceGLys [K]3268
1790251011117 rs781269518 0.000byFreq synonymousAArg [R]3262
contig referenceGArg [R]3262
1790251021116 rs748339514 0.000 missenseAGln [Q]2262
contig referenceGArg [R]2262
1790251031115 rs373375357 0.000byCluster missenseTTrp [W]1262
contig referenceCArg [R]1262
1790251121106 rs1268043831 N.D. missenseTLeu [L]1259
contig referenceAMet [M]1259
1790251131105 rs1281113028 N.D. missenseCAsp [D]3258
contig referenceGGlu [E]3258
1790251181100 rs1364064523 N.D. nonsenseT1257
contig referenceGGlu [E]1257
1790251191099 rs191483272 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousAGly [G]3256
synonymousTGly [G]3256
contig referenceCGly [G]3256
1790251201098 rs1299117934 N.D. missenseCAla [A]2256
contig referenceGGly [G]2256
1790251221096 rs1345158148 N.D. synonymousCAla [A]3255
contig referenceTAla [A]3255
1790251231095 rs772104939 0.000 missenseGGly [G]2255
contig referenceCAla [A]2255
1790251241094 rs1279315052 N.D. missenseTSer [S]1255
contig referenceGAla [A]1255
1790251371081 rs1302317865 N.D. missenseAIle [I]3250
contig referenceGMet [M]3250
1790251391079 rs1443922983 N.D. missenseGVal [V]1250
contig referenceAMet [M]1250
1790251461072 rs989794647 N.D. synonymousTTyr [Y]3247
contig referenceCTyr [Y]3247
1790251521066 rs775620227 0.000 missenseCHis [H]3245
contig referenceGGln [Q]3245
1790251551063 rs374404877 0.000byCluster synonymousTGly [G]3244
contig referenceCGly [G]3244
1790251561062 rs760540117 0.000 missenseAAsp [D]2244
missenseTVal [V]2244
contig referenceGGly [G]2244
1790251741044 rs1465472323 N.D. missenseCThr [T]2238
contig referenceTMet [M]2238
1790251761042 rs1190782978 N.D. synonymousTAla [A]3237
contig referenceCAla [A]3237
1790251861032 rs201175783 0.000byClusterbyFreq missenseAHis [H]2234
contig referenceGArg [R]2234
1790251871031 rs774816930 N.D. missenseTCys [C]1234
contig referenceCArg [R]1234
1790252011017 rs1429890208 N.D. missenseAGln [Q]2229
contig referenceGArg [R]2229
1790252021016 rs759086085 0.000byFreq missenseTTrp [W]1229
contig referenceCArg [R]1229
1790252041014 rs761475270 0.000byFreq missenseATyr [Y]2228
contig referenceCSer [S]2228
1790252051013 rs1399294629 N.D. missenseCPro [P]1228
contig referenceTSer [S]1228
1790252071011 rs151132491 0.000byClusterbyFreq missenseAHis [H]2227
contig referenceGArg [R]2227
1790252081010 rs201453599 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTCys [C]1227
contig referenceCArg [R]1227
1790252131005 rs757950212 0.000 missenseGSer [S]2225
contig referenceAAsn [N]2225
1790252151003 rs780528017 0.000 synonymousTPhe [F]3224
contig referenceCPhe [F]3224
1790252181000 rs1368076785 N.D. synonymousTTyr [Y]3223
contig referenceCTyr [Y]3223
179025219999 rs1231975360 N.D. missenseGCys [C]2223
contig referenceATyr [Y]2223
179025225993 rs752128668 0.000 missenseAAsp [D]2221
contig referenceGGly [G]2221
179027430982 rs751380122 N.D. synonymousCAsn [N]3217
contig referenceTAsn [N]3217
179027435977 rs535653736 0.000byFreqWith1000GenomeData0.0002 missenseGGlu [E]1216
contig referenceCGln [Q]1216
179027436976 rs1329584057 N.D. synonymousGVal [V]3215
contig referenceAVal [V]3215
179027439973 rs549100426 0.000With1000GenomeData0.0002 synonymousGThr [T]3214
contig referenceAThr [T]3214
179027440972 rs764919464 0.000 missenseTIle [I]2214
contig referenceCThr [T]2214
179027443969 rs772906011 0.000 missenseGCys [C]2213
contig referenceATyr [Y]2213
179027452960 rs762446972 0.000byFreq missenseTIle [I]2210
contig referenceGArg [R]2210
179027461951 rs1395669909 N.D. missenseGArg [R]2207
contig referenceCPro [P]2207
179027462950 rs765810607 0.000 missenseTSer [S]1207
contig referenceCPro [P]1207
179027477935 rs1292065783 N.D. missenseALys [K]1202
contig referenceGGlu [E]1202
179027483929 rs375025464 0.000byClusterbyFreq missenseAArg [R]1200
missenseCArg [R]1200
contig referenceGGly [G]1200
179027486926 rs1182019402 N.D. nonsenseT1199
contig referenceGGlu [E]1199
179027487924 rs1253242426 N.D. (9bp) [NKQT]2198
179027497915 rs767944267 0.000byFreq missenseAGln [Q]2195
contig referenceGArg [R]2195
179027498914 rs371485386 0.000byClusterbyFreq missenseTTrp [W]1195
contig referenceCArg [R]1195
179027500912 rs756488317 0.000 missenseAGln [Q]2194
contig referenceGArg [R]2194
179027501911 rs150264119 0.000byClusterbyFreq missenseTTrp [W]1194
contig referenceCArg [R]1194
179027502910 rs749452113 0.000 synonymousGGln [Q]3193
contig referenceAGln [Q]3193
179027506905 rs1392182016 N.D. frame shiftAGlu [E]1192
contig reference-Gly [G]1192
179027507905 rs1182599548 N.D. missenseASer [S]1192
contig referenceGGly [G]1192
179027509897 rs1407768893 N.D. frame shift-Trp [W]2189
contig reference(7bp)Ser [S]2189
179027518894 rs978354058 N.D. missenseATyr [Y]2188
contig referenceCSer [S]2188
179027520892 rs1351076859 N.D. missenseTAsp [D]3187
contig referenceAGlu [E]3187
179027646888 rs753204801 0.000byFreq nonsenseA2186
missenseTLeu [L]2186
contig referenceCSer [S]2186
179027652861 rs747040600 0.000 frame shift-His [H]2177
contig reference(22bp)Leu [L]2177
179027652882 rs764491538 0.000 missenseTLeu [L]2184
contig referenceCSer [S]2184
179027653881 rs754273355 0.000 missenseCPro [P]1184
contig referenceTSer [S]1184
179027657877 rs757510423 0.000byFreq synonymousCSer [S]3182
contig referenceTSer [S]3182
179027658876 rs1205303608 N.D. missenseAAsn [N]2182
contig referenceGSer [S]2182
179027661873 rs779318287 0.000 missenseGArg [R]2181
contig referenceAGln [Q]2181
179027663871 rs1352543676 N.D. synonymousCAla [A]3180
contig referenceTAla [A]3180
179027664870 rs750493002 0.000 missenseGGly [G]2180
missenseTVal [V]2180
contig referenceCAla [A]2180
179027669865 rs758464530 0.000byFreq synonymousAAla [A]3178
contig referenceGAla [A]3178
179027670864 rs781183956 0.000byFreq missenseAGlu [E]2178
missenseGGly [G]2178
missenseTVal [V]2178
contig referenceCAla [A]2178
179027674860 rs370087981 0.000byCluster YesmissenseAMet [M]1177
synonymousTLeu [L]1177
contig referenceCLeu [L]1177
179027677857 rs139328684 0.000byClusterbyFreq YesmissenseTTrp [W]1176
synonymousAArg [R]1176
contig referenceCArg [R]1176
179027684850 rs1390188968 N.D. missenseTAsn [N]3173
contig referenceGLys [K]3173
179027685849 rs1318756874 N.D. missenseGArg [R]2173
contig referenceALys [K]2173
179027689845 rs1450809013 N.D. missenseCPro [P]1172
contig referenceGAla [A]1172
179027690844 rs770543766 0.000 synonymousCHis [H]3171
contig referenceTHis [H]3171
179027706828 rs1183511972 N.D. missenseGCys [C]2166
missenseTPhe [F]2166
contig referenceATyr [Y]2166
179027707827 rs375649992 N.D. YesmissenseCHis [H]1166
contig referenceTTyr [Y]1166
179027713821 rs976502739 N.D. missenseAThr [T]1164
contig referenceGAla [A]1164
179027716818 rs1363972459 N.D. nonsenseT1163
contig referenceCGln [Q]1163
179027718816 rs774043028 0.000 missenseGGly [G]2162
contig referenceCAla [A]2162
179027719815 rs1466335076 N.D. missenseTSer [S]1162
contig referenceGAla [A]1162
179027720814 rs1304320139 N.D. synonymousAVal [V]3161
contig referenceGVal [V]3161
179027723811 rs141895852 0.000byClusterbyFreq YessynonymousCAla [A]3160
contig referenceTAla [A]3160
179027727807 rs1456588860 N.D. missenseAGln [Q]2159
contig referenceCPro [P]2159
179027728806 rs1175596443 N.D. missenseGAla [A]1159
contig referenceCPro [P]1159
179027730804 rs771551706 0.000 missenseGCys [C]2158
contig referenceCSer [S]2158
179027734800 rs201950989 0.000byClusterbyFreq YesmissenseCArg [R]1157
missenseGGly [G]1157
contig referenceASer [S]1157
179027739795 rs1367421294 N.D. missenseATyr [Y]2155
missenseTPhe [F]2155
contig referenceCSer [S]2155
179027740794 rs1438882676 N.D. missenseGAla [A]1155
contig referenceTSer [S]1155
179027741793 rs764726218 0.000byFreq synonymousTAla [A]3154
contig referenceCAla [A]3154
179027742792 rs1476686321 N.D. missenseAAsp [D]2154
contig referenceCAla [A]2154
179027743791 rs867094952 N.D. missenseAThr [T]1154
contig referenceGAla [A]1154
179027753781 rs759184949 N.D. synonymousALys [K]3150
contig referenceGLys [K]3150
179027757777 rs1242999290 N.D. frame shift-Leu [L]2149
contig referenceGCys [C]2149
179027760774 rs1192925740 N.D. missenseTPhe [F]2148
contig referenceATyr [Y]2148
179027765769 rs1313350267 N.D. missenseGLys [K]3146
contig referenceTAsn [N]3146
179027766768 rs754220209 0.000 missenseGSer [S]2146
contig referenceAAsn [N]2146
179027767767 rs200558116 0.000byClusterbyFreq YesmissenseGAsp [D]1146
missenseTTyr [Y]1146
contig referenceAAsn [N]1146
179027771763 rs556942756 N.D. synonymousAThr [T]3144
contig referenceGThr [T]3144
179027772762 rs1328916430 N.D. missenseTMet [M]2144
contig referenceCThr [T]2144
179027773761 rs1325350910 N.D. missenseGAla [A]1144
contig referenceAThr [T]1144
179027774760 rs376039062 0.000byCluster YessynonymousAAla [A]3143
contig referenceCAla [A]3143
179027775759 rs1207647982 N.D. missenseTVal [V]2143
contig referenceCAla [A]2143
179027779755 rs370358408 0.000byClusterbyFreq YessynonymousTLeu [L]1142
contig referenceCLeu [L]1142
179027780754 rs750676731 0.000byFreq missenseGMet [M]3141
contig referenceCIle [I]3141
179027781753 rs758653482 0.000 missenseGSer [S]2141
contig referenceTIle [I]2141
179027783751 rs779940587 0.000byFreq synonymousAVal [V]3140
contig referenceGVal [V]3140
179027786748 rs1341405688 N.D. synonymousCArg [R]3139
contig referenceAArg [R]3139
179027787747 rs1433660434 N.D. missenseAGln [Q]2139
contig referenceGArg [R]2139
179027788746 rs147086451 0.000byClusterWith1000GenomeData0.0002 YesnonsenseT1139
missenseGGly [G]1139
synonymousAArg [R]1139
contig referenceCArg [R]1139
179027795739 rs756004871 0.000 synonymousGPro [P]3136
contig referenceAPro [P]3136
179027806728 rs777731909 0.000 missenseCPro [P]1133
contig referenceTSer [S]1133
179027808726 rs1399244561 N.D. missenseAAsp [D]2132
contig referenceGGly [G]2132
179027809725 rs1308017027 N.D. missenseASer [S]1132
contig referenceGGly [G]1132
179027810724 rs59797789 N.D. YesmissenseAIle [I]3131
contig referenceGMet [M]3131
179027812722 rs749063775 0.000 missenseGVal [V]1131
contig referenceAMet [M]1131
179030883718 rs138510384 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAPro [P]3129
synonymousCPro [P]3129
synonymousTPro [P]3129
contig referenceGPro [P]3129
179030884717 rs372935625 0.000byClusterbyFreq YesmissenseTLeu [L]2129
contig referenceCPro [P]2129
179030885716 rs1377436362 N.D. missenseTSer [S]1129
contig referenceCPro [P]1129
179030891710 rs763038459 0.000byFreq missenseAIle [I]1127
contig referenceGVal [V]1127
179030897704 rs766655569 0.000 missenseTPhe [F]1125
contig referenceGVal [V]1125
179030900701 rs751562461 0.000 missenseAIle [I]1124
contig referenceGVal [V]1124
179030901700 rs113403165 0.000byClusterWith1000GenomeData0.0002 YessynonymousGPro [P]3123
contig referenceAPro [P]3123
179030903698 rs186257473 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGAla [A]1123
missenseTSer [S]1123
contig referenceCPro [P]1123
179030905696 rs1482658574 N.D. missenseTIle [I]2122
contig referenceCThr [T]2122
179030908693 rs757193758 0.000byFreq missenseGGly [G]2121
contig referenceCAla [A]2121
179030909692 rs1467252813 N.D. missenseAThr [T]1121
contig referenceGAla [A]1121
179030916685 rs191834535 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAGlu [E]3118
contig referenceGGlu [E]3118
179030918683 rs745704704 0.000 missenseALys [K]1118
contig referenceGGlu [E]1118
179030919682 rs149985781 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTVal [V]3117
contig referenceCVal [V]3117
179030923678 rs779801051 0.000byFreq missenseCAla [A]2116
contig referenceTVal [V]2116
179030924677 rs1349604338 N.D. missenseAMet [M]1116
contig referenceGVal [V]1116
179030926675 rs111971012 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseGSer [S]2115
contig referenceAAsn [N]2115
179030928673 rs1225570368 N.D. synonymousTSer [S]3114
contig referenceCSer [S]3114
179030940661 rs372922003 0.000byClusterbyFreq YessynonymousCPro [P]3110
contig referenceTPro [P]3110
179030940659 rs765924226 0.000 -1110
179030944657 rs776283210 0.000 missenseTLeu [L]2109
contig referenceCPro [P]2109
179030945656 rs1310398374 N.D. missenseTSer [S]1109
contig referenceCPro [P]1109
179030950651 rs1006934769 N.D. missenseATyr [Y]2107
contig referenceGCys [C]2107
179030952649 rs748609109 0.000byFreq synonymousTSer [S]3106
contig referenceCSer [S]3106
179030953647 rs1301867647 N.D. frame shiftALys [K]1106
contig reference-Ser [S]1106
179030955646 rs536305731 0.000With1000GenomeData0.0002 synonymousCAsn [N]3105
contig referenceTAsn [N]3105
179030957644 rs756657526 N.D. missenseGAsp [D]1105
contig referenceAAsn [N]1105
179030959642 rs891268063 N.D. missenseAGlu [E]2104
contig referenceCAla [A]2104
179030965636 rs374552851 0.000byClusterbyFreq YesmissenseGCys [C]2102
contig referenceATyr [Y]2102
179030975626 rs763416591 0.000 nonsenseT199
contig referenceCArg [R]199
179030976625 rs1340851346 N.D. synonymousALeu [L]398
contig referenceCLeu [L]398
179030978623 rs368631631 0.000byCluster YesmissenseTPhe [F]198
contig referenceCLeu [L]198
179030987614 rs1228980299 N.D. missenseTCys [C]195
contig referenceGGly [G]195
179030990611 rs1356483004 N.D. missenseGAsp [D]194
contig referenceCHis [H]194
179030998603 rs1233007684 N.D. missenseTVal [V]291
contig referenceGGly [G]291
179067485599 rs770170004 0.000 missenseGGlu [E]190
contig referenceCGln [Q]190
179067486598 rs1271829205 N.D. nonsenseG389
contig referenceTTyr [Y]389
179067487597 rs1342850142 N.D. missenseGCys [C]289
contig referenceATyr [Y]289
179067490594 rs773818316 0.000 missenseGArg [R]288
contig referenceAHis [H]288
179067494590 rs1377947234 N.D. missenseCPro [P]187
contig referenceGAla [A]187
179067495589 rs377585101 0.000byClusterbyFreq YesmissenseCHis [H]386
missenseTHis [H]386
synonymousAGln [Q]386
contig referenceGGln [Q]386
179067496588 rs369249551 0.000byCluster YesmissenseGArg [R]286
contig referenceAGln [Q]286
179067500584 rs1180704201 N.D. missenseAThr [T]185
contig referenceGAla [A]185
179067505579 rs1207040907 N.D. missenseGArg [R]283
contig referenceAGln [Q]283
179067507577 rs759699282 0.000byFreq synonymousCAla [A]382
contig referenceAAla [A]382
179067512572 rs1195479733 N.D. missenseGAla [A]181
contig referenceTSer [S]181
179067516568 rs1245077526 N.D. synonymousALeu [L]379
contig referenceGLeu [L]379
179067520564 rs767754282 0.000 missenseTIle [I]278
contig referenceCThr [T]278
179067521563 rs749527644 N.D. missenseCPro [P]178
contig referenceAThr [T]178
179067522562 rs201815010 0.000byClusterbyFreq YessynonymousTVal [V]377
contig referenceCVal [V]377
179067524560 rs911897604 N.D. missenseAIle [I]177
contig referenceGVal [V]177
179067526558 rs144290178 0.000byClusterbyFreq YesmissenseGSer [S]276
contig referenceAAsn [N]276
179067531553 rs148289661 0.000byCluster YessynonymousGLeu [L]374
contig referenceCLeu [L]374
179067535549 rs765068726 0.000 missenseCThr [T]273
missenseGArg [R]273
contig referenceALys [K]273
179067544540 rs1177667232 N.D. missenseAGln [Q]270
contig referenceTLeu [L]270
179067547537 rs750440867 0.000 missenseTLeu [L]269
contig referenceCPro [P]269
179067549535 rs762803882 0.000byFreq synonymousALys [K]368
contig referenceGLys [K]368
179067550534 rs766137802 0.000byFreq missenseGArg [R]268
contig referenceALys [K]268
179067551533 rs751421786 0.000 missenseGGlu [E]168
contig referenceALys [K]168
179067555529 rs944699485 N.D. synonymousGLeu [L]366
contig referenceALeu [L]366
179067556528 rs754639242 0.000 missenseCPro [P]266
contig referenceTLeu [L]266
179067557527 rs1347152488 N.D. synonymousTLeu [L]166
contig referenceCLeu [L]166
179067558526 rs1226383222 N.D. synonymousAGlu [E]365
contig referenceGGlu [E]365
179067559525 rs781031556 0.000 missenseCAla [A]265
contig referenceAGlu [E]265
179067566518 rs1052572677 N.D. synonymousTLeu [L]163
contig referenceCLeu [L]163
179067568516 rs1221607233 N.D. missenseTVal [V]262
contig referenceCAla [A]262
179067572512 rs752233479 0.000 missenseCArg [R]161
contig referenceTCys [C]161
179067578506 rs755712165 0.000 missenseALys [K]159
contig referenceCGln [Q]159
179067581503 rs1287731945 N.D. missenseALys [K]158
contig referenceGGlu [E]158
179067583501 rs561576526 0.001byClusterbyFreqWith1000GenomeData0.0026 missenseCAla [A]257
contig referenceGGly [G]257
179067588496 rs749738472 0.000byFreq missenseCAsn [N]355
contig referenceGLys [K]355
179067591493 rs374634142 0.000byClusterbyFreq synonymousASer [S]354
synonymousCSer [S]354
contig referenceGSer [S]354
179067592492 rs893943065 N.D. missenseGTrp [W]254
missenseTLeu [L]254
contig referenceCSer [S]254
179067593491 rs1181977959 N.D. missenseCPro [P]154
contig referenceTSer [S]154
179067594490 rs1222332399 N.D. synonymousGLeu [L]353
contig referenceALeu [L]353
179067598486 rs746269403 0.000 missenseTVal [V]252
contig referenceAGlu [E]252
179067599485 rs772256260 0.000byFreq missenseALys [K]152
missenseCGln [Q]152
contig referenceGGlu [E]152
179067601483 rs774914659 0.000byFreq missenseGGly [G]251
contig referenceAGlu [E]251
179067602482 rs905003848 N.D. missenseALys [K]151
contig referenceGGlu [E]151
179067607477 rs1011284479 N.D. missenseAGlu [E]249
contig referenceGGly [G]249
179067608476 rs1460705234 N.D. missenseAArg [R]149
contig referenceGGly [G]149
179067609475 rs768714218 0.000 synonymousGAla [A]348
contig referenceAAla [A]348
179067610474 rs1404312302 N.D. missenseGGly [G]248
contig referenceCAla [A]248
179067616468 rs776585510 0.000byFreq missenseTLeu [L]246
contig referenceCPro [P]246
179067626458 rs1021770766 N.D. missenseAThr [T]143
missenseTSer [S]143
contig referenceGAla [A]143
179067631453 rs762898317 0.000 missenseTLeu [L]241
contig referenceAGln [Q]241
179067637447 rs967084746 N.D. missenseCSer [S]239
contig referenceTPhe [F]239
179067638446 rs766452347 0.000 missenseCLeu [L]139
contig referenceTPhe [F]139
179067640444 rs751140834 0.000 frame shift-Leu [L]238
contig referenceCPro [P]238
179067641443 rs1416970807 N.D. missenseGAla [A]138
contig referenceCPro [P]138
179067646438 rs751370853 0.000 missenseTLeu [L]236
contig referenceAGln [Q]236
179067648436 rs1282703071 N.D. synonymousCPro [P]335
contig referenceAPro [P]335
179067651433 rs977521622 N.D. synonymousGPro [P]334
contig referenceAPro [P]334
179067659425 rs1191284676 N.D. nonsenseT132
contig referenceCGln [Q]132
179067664420 rs759454195 0.000byFreq missenseTIle [I]230
contig referenceCThr [T]230
179067667417 rs1210552541 N.D. missenseAGlu [E]229
contig referenceGGly [G]229
179067671413 rs767266152 0.000 missenseGAla [A]128
contig referenceAThr [T]128
179067673411 rs376703257 0.000byClusterbyFreq missenseATyr [Y]227
contig referenceCSer [S]227
179067675409 rs1002124556 N.D. synonymousAArg [R]326
contig referenceGArg [R]326
179067676408 rs368973556 0.000byCluster missenseCThr [T]226
contig referenceGArg [R]226
179067681403 rs1205118123 N.D. synonymousTAla [A]324
contig referenceCAla [A]324
179067690394 rs777282271 0.000byFreq missenseAIle [I]321
missenseCIle [I]321
contig referenceGMet [M]321
179067695389 rs757749087 0.000byFreq missenseTSer [S]120
contig referenceCPro [P]120
179067699385 rs779443540 0.000byFreq synonymousASer [S]318
contig referenceGSer [S]318
179067700384 rs746217391 0.000 missenseTLeu [L]218
contig referenceCSer [S]218
179067704380 rs1472162988 N.D. missenseAThr [T]117
missenseTSer [S]117
contig referenceCPro [P]117
179067708376 rs374031199 0.000byCluster synonymousTPro [P]315
contig referenceCPro [P]315
179067709375 rs1386591481 N.D. missenseAHis [H]215
missenseTLeu [L]215
contig referenceCPro [P]215
179067713371 rs752935353 0.000byCluster nonsenseT114
contig referenceCGln [Q]114
179067715359 rs1307353432 N.D. frame shift-Ala [A]110
contig reference(11bp)Pro [P]110
179067715369 rs1370926880 N.D. missenseGArg [R]213
contig referenceALys [K]213
179067716368 rs1311422890 N.D. missenseGGlu [E]113
contig referenceALys [K]113
179067718366 rs35265139 0.000 missenseAHis [H]212
missenseTLeu [L]212
contig referenceCPro [P]212
179067719365 rs1343003863 N.D. missenseTSer [S]112
contig referenceCPro [P]112
179067720364 rs768781934 0.000 synonymousCPro [P]311
contig referenceAPro [P]311
179067727357 rs1215633125 N.D. missenseCPro [P]29
contig referenceTLeu [L]29
179067728356 rs1340148649 N.D. frame shift-Phe [F]19
contig referenceCLeu [L]19
179067730354 rs776731756 0.000 missenseAGlu [E]28
contig referenceTVal [V]28
179067731352 rs754444468 0.000 frame shiftCArg [R]38
contig reference-Val [V]38
179067731353 rs761840300 0.000byClusterbyFreq missenseAMet [M]18
missenseTLeu [L]18
contig referenceGVal [V]18
179067732352 rs200945907 0.002byClusterbyFreqWith1000GenomeData0.0018 synonymousAAla [A]37
synonymousTAla [A]37
contig referenceCAla [A]37
179067734350 rs767358054 0.000byFreq missenseAThr [T]17
missenseTSer [S]17
contig referenceGAla [A]17
179067735349 rs760329133 0.000byFreq missenseAGln [Q]36
synonymousTHis [H]36
contig referenceCHis [H]36
179067740344 rs763690277 0.000 nonsenseT15
contig referenceCGln [Q]15
179067744340 rs1481804124 N.D. synonymousGLeu [L]33
contig referenceCLeu [L]33
179067752332 rs753364577 0.000byFreq missenseGVal [V]11
contig referenceAMet [M]11