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SNP linked to Gene (geneID:79152) 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
XM_011523319.2minus strandXP_011521621.1reverseNT_010498.16GRCh38.p7<- currently shown
XM_011523317.2minus strandXP_011521619.1reverseNT_010498.16GRCh38.p7View snp on GeneModel
NM_024306.4minus strandNP_077282.3reverseNT_010498.16GRCh38.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_010498.16XM_011523319.2XP_011521621.1reverseminus strand430, 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
747141901195 rs758814013 0.000 GTrp [W]3373
TCys [C]3373
contig referenceA3373
747141941191 rs1280586445 N.D. missenseGArg [R]2372
contig referenceAGln [Q]2372
747141961189 rs140017632 0.002byClusterbyFreqWith1000GenomeData0.0034 synonymousAThr [T]3371
synonymousCThr [T]3371
contig referenceGThr [T]3371
747141971188 rs141854925 0.001byClusterbyFreq missenseTMet [M]2371
contig referenceCThr [T]2371
747142041181 rs1447325337 N.D. missenseGVal [V]1369
contig referenceCLeu [L]1369
747142051180 rs910812066 N.D. missenseGGln [Q]3368
synonymousTHis [H]3368
contig referenceCHis [H]3368
747142071178 rs1344870098 N.D. missenseTTyr [Y]1368
contig referenceCHis [H]1368
747142101175 rs1239987258 N.D. missenseAThr [T]1367
missenseTSer [S]1367
contig referenceCPro [P]1367
747142111174 rs765267806 0.000 missenseTAsn [N]3366
contig referenceALys [K]3366
747142141171 rs1163628805 N.D. synonymousAGlu [E]3365
contig referenceGGlu [E]3365
747142161169 rs150795488 0.000byCluster missenseCGln [Q]1365
contig referenceGGlu [E]1365
747142181167 rs1423316562 N.D. missenseGArg [R]2364
missenseTLeu [L]2364
contig referenceCPro [P]2364
747142191166 rs1163459308 N.D. missenseTSer [S]1364
contig referenceCPro [P]1364
747142211164 rs1386143354 N.D. missenseTIle [I]2363
contig referenceCThr [T]2363
747142221163 rs200545714 0.005byClusterbyFreqWith1000GenomeData0.0004 missenseCPro [P]1363
contig referenceAThr [T]1363
747142231162 rs923262192 N.D. synonymousTLeu [L]3362
contig referenceCLeu [L]3362
747142261159 rs541753758 0.000With1000GenomeData0.0002 synonymousGThr [T]3361
synonymousTThr [T]3361
contig referenceCThr [T]3361
747142311154 rs781542407 0.000 missenseTTyr [Y]1360
contig referenceCHis [H]1360
747142331152 rs1042623584 N.D. missenseCSer [S]2359
contig referenceTPhe [F]2359
747142351150 rs1317229584 N.D. synonymousCCys [C]3358
contig referenceTCys [C]3358
747142371148 rs1380616833 N.D. missenseASer [S]1358
contig referenceTCys [C]1358
747142381147 rs558457701 0.000byFreqWith1000GenomeData0.0002 synonymousTTyr [Y]3357
contig referenceCTyr [Y]3357
747142391146 rs756322979 0.000 missenseGCys [C]2357
contig referenceATyr [Y]2357
747142401145 rs1358996501 N.D. missenseAAsn [N]1357
contig referenceTTyr [Y]1357
747142431142 rs1208591637 N.D. missenseCHis [H]1356
contig referenceGAsp [D]1356
747142471138 rs906360296 N.D. synonymousALeu [L]3354
contig referenceGLeu [L]3354
747142491136 rs372391824 0.000byCluster synonymousCLeu [L]1354
contig referenceTLeu [L]1354
747142501135 rs1206666736 N.D. synonymousGLys [K]3353
contig referenceALys [K]3353
747142541131 rs375479162 0.000byCluster missenseAAsn [N]2352
missenseTIle [I]2352
contig referenceCThr [T]2352
747142591126 rs1042493622 N.D. synonymousTIle [I]3350
contig referenceCIle [I]3350
747142611124 rs1464145057 N.D. missenseGVal [V]1350
contig referenceAIle [I]1350
747142641121 rs1183768911 N.D. missenseTCys [C]1349
contig referenceGGly [G]1349
747163531109 rs755111282 0.000 missenseCGln [Q]1345
contig referenceALys [K]1345
747163541108 rs779374650 0.000 missenseCHis [H]3344
contig referenceGGln [Q]3344
747163561106 rs748697810 0.000 missenseGGlu [E]1344
contig referenceCGln [Q]1344
747163581104 rs995971156 N.D. missenseGArg [R]2343
contig referenceAHis [H]2343
747163591103 rs948211737 N.D. missenseTTyr [Y]1343
contig referenceCHis [H]1343
747163601102 rs1228638795 N.D. synonymousGAla [A]3342
contig referenceAAla [A]3342
747163651097 rs758924579 0.000 missenseCLeu [L]1341
contig referenceTPhe [F]1341
747163751087 rs746779418 N.D. synonymousTVal [V]3337
contig referenceCVal [V]3337
747163771085 rs778049749 0.000 missenseAIle [I]1337
contig referenceGVal [V]1337
747163781084 rs747337014 0.000byFreq synonymousTHis [H]3336
contig referenceCHis [H]3336
747163801082 rs770609938 0.000 missenseAAsn [N]1336
missenseGAsp [D]1336
contig referenceCHis [H]1336
747163891073 rs1202000392 N.D. missenseCGln [Q]1333
contig referenceALys [K]1333
747163931069 rs755566191 0.000 missenseAArg [R]3331
contig referenceCSer [S]3331
747163941068 rs745359828 0.000 missenseAAsn [N]2331
contig referenceGSer [S]2331
747163951067 rs1359245337 N.D. missenseCArg [R]1331
contig referenceASer [S]1331
747163961066 rs768684986 N.D. nonsenseG3330
contig referenceCTyr [Y]3330
747164091053 rs139459274 0.000byCluster missenseTVal [V]2326
contig referenceGGly [G]2326
747164111051 rs769469264 0.000byFreq synonymousALys [K]3325
contig referenceGLys [K]3325
747164121050 rs775170242 0.000byFreq missenseCThr [T]2325
contig referenceALys [K]2325
747164151047 rs931541033 N.D. missenseGArg [R]2324
contig referenceAHis [H]2324
747164161046 rs530329233 0.000With1000GenomeData0.0002 missenseTTyr [Y]1324
contig referenceCHis [H]1324
747164171045 rs144071567 0.000byClusterbyFreqWith1000GenomeData0.0006 synonymousAPro [P]3323
contig referenceGPro [P]3323
747164181044 rs774131656 0.000 missenseAGln [Q]2323
missenseTLeu [L]2323
contig referenceCPro [P]2323
747164191043 rs761580869 0.000 missenseTSer [S]1323
contig referenceCPro [P]1323
747164201042 rs766614299 0.000byFreq synonymousASer [S]3322
synonymousCSer [S]3322
contig referenceGSer [S]3322
747164211041 rs373010581 0.000byClusterbyFreq missenseTLeu [L]2322
contig referenceCSer [S]2322
747164261036 rs1212121164 N.D. synonymousCPhe [F]3320
contig referenceTPhe [F]3320
747164291033 rs1293252892 N.D. missenseGGln [Q]3319
synonymousTHis [H]3319
contig referenceCHis [H]3319
747164341028 rs1295765907 N.D. missenseGVal [V]1318
contig referenceCLeu [L]1318
747164351027 rs557612137 N.D. synonymousTTyr [Y]3317
contig referenceCTyr [Y]3317
747164371025 rs1308764899 N.D. missenseCHis [H]1317
contig referenceTTyr [Y]1317
747164431019 rs200503137 0.000byClusterWith1000GenomeData0.0002 missenseTTyr [Y]1315
contig referenceCHis [H]1315
747164441018 rs755023635 0.000 synonymousTThr [T]3314
contig referenceCThr [T]3314
747164521010 rs1274600570 N.D. missenseAAsn [N]1312
missenseCHis [H]1312
contig referenceGAsp [D]1312
747164581004 rs752782914 0.000 missenseTPhe [F]1310
contig referenceCLeu [L]1310
747164591003 rs758832450 0.000 synonymousAVal [V]3309
synonymousGVal [V]3309
contig referenceCVal [V]3309
747164611001 rs150427439 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAIle [I]1309
contig referenceGVal [V]1309
747164621000 rs780860426 0.000byFreq synonymousTTyr [Y]3308
contig referenceCTyr [Y]3308
74716465997 rs149698079 0.001byClusterbyFreqWith1000GenomeData0.0008 synonymousTGly [G]3307
contig referenceCGly [G]3307
74716471991 rs780864815 0.000 synonymousTLeu [L]3305
contig referenceCLeu [L]3305
74716473989 rs1187971810 N.D. missenseTPhe [F]1305
contig referenceCLeu [L]1305
74716474987 rs1389533007 N.D. frame shiftGPro [P]2305
contig reference-Leu [L]2305
74716475987 rs980968003 N.D. missenseCAla [A]2304
missenseTVal [V]2304
contig referenceGGly [G]2304
74716477985 rs745476992 0.000 synonymousTGly [G]3303
contig referenceGGly [G]3303
74716480982 rs200053706 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAAla [A]3302
synonymousCAla [A]3302
contig referenceGAla [A]3302
74716481981 rs202048141 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTVal [V]2302
contig referenceCAla [A]2302
74716483979 rs748813351 0.000 synonymousCPhe [F]3301
contig referenceTPhe [F]3301
74716488974 rs199908318 0.002byCluster missenseTLeu [L]1300
contig referenceGVal [V]1300
74716490972 rs1204200853 N.D. missenseTIle [I]2299
contig referenceCThr [T]2299
74716493969 rs573835278 0.000With1000GenomeData0.0002 missenseTVal [V]2298
contig referenceGGly [G]2298
74716495967 rs1380073460 N.D. synonymousAGly [G]3297
contig referenceGGly [G]3297
74716500962 rs373270982 0.000byCluster missenseAIle [I]1296
contig referenceGVal [V]1296
74716502960 rs761649745 0.000 missenseTVal [V]2295
contig referenceCAla [A]2295
74716503959 rs1180256587 N.D. missenseCPro [P]1295
contig referenceGAla [A]1295
74716506956 rs1248808668 N.D. missenseALys [K]1294
contig referenceGGlu [E]1294
74716510952 rs1321554097 N.D. synonymousALeu [L]3292
contig referenceGLeu [L]3292
74716512950 rs772704885 0.000 missenseGVal [V]1292
contig referenceCLeu [L]1292
74716516946 rs759692923 0.000byFreq synonymousTLeu [L]3290
contig referenceCLeu [L]3290
74716519943 rs142533482 0.000byClusterbyFreq missenseCHis [H]3289
missenseTHis [H]3289
contig referenceGGln [Q]3289
74716521941 rs763075924 0.000 nonsenseT1289
missenseALys [K]1289
contig referenceCGln [Q]1289
74716523939 rs764638921 0.000 missenseCThr [T]2288
missenseGArg [R]2288
contig referenceTMet [M]2288
74716524938 rs573296085 0.000byFreqWith1000GenomeData0.0006 missenseCLeu [L]1288
missenseGVal [V]1288
contig referenceAMet [M]1288
74716525937 rs1185363977 N.D. synonymousTCys [C]3287
contig referenceCCys [C]3287
74716526936 rs1411520354 N.D. missenseATyr [Y]2287
contig referenceGCys [C]2287
74716528934 rs757812676 0.000 synonymousALeu [L]3286
contig referenceGLeu [L]3286
74716530932 rs781362098 0.000 synonymousCLeu [L]1286
contig referenceTLeu [L]1286
74716531931 rs1355043152 N.D. nonsenseG3285
contig referenceCTyr [Y]3285
74716532930 rs1472892105 N.D. missenseTPhe [F]2285
contig referenceATyr [Y]2285
74716540922 rs370973830 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAGly [G]3282
synonymousGGly [G]3282
synonymousTGly [G]3282
contig referenceCGly [G]3282
74716542920 rs199815871 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseASer [S]1282
missenseCArg [R]1282
missenseTCys [C]1282
contig referenceGGly [G]1282
74716543919 rs544646155 0.000byFreqWith1000GenomeData0.0002 synonymousAIle [I]3281
synonymousTIle [I]3281
contig referenceCIle [I]3281
74716546916 rs1454104100 N.D. synonymousAVal [V]3280
contig referenceGVal [V]3280
74716548914 rs1313638702 N.D. missenseAMet [M]1280
missenseTLeu [L]1280
contig referenceGVal [V]1280
74716552910 rs890278057 N.D. synonymousTSer [S]3278
contig referenceCSer [S]3278
74716553909 rs1224736630 N.D. missenseTPhe [F]2278
contig referenceCSer [S]2278
74716555907 rs541507213 0.000byClusterbyFreq synonymousTAla [A]3277
contig referenceCAla [A]3277
74716556906 rs1052369680 N.D. missenseTVal [V]2277
contig referenceCAla [A]2277
74716562900 rs374386471 N.D. missenseCAla [A]2275
contig referenceTVal [V]2275
74716565897 rs1208354117 N.D. frame shift-Leu [L]2274
contig referenceCPro [P]2274
74716565897 rs1263931890 N.D. missenseTLeu [L]2274
contig referenceCPro [P]2274
74716566896 rs373152103 0.000byClusterbyFreq missenseAThr [T]1274
missenseGAla [A]1274
contig referenceCPro [P]1274
74716568894 rs867086433 N.D.byCluster missenseTLeu [L]2273
contig referenceCPro [P]2273
74716569893 rs1235710043 N.D. missenseAThr [T]1273
contig referenceCPro [P]1273
74716570892 rs1482897208 N.D. missenseALeu [L]3272
contig referenceCPhe [F]3272
74716572890 rs775735494 0.000 missenseAIle [I]1272
contig referenceTPhe [F]1272
74716573889 rs572400760 N.D.byCluster synonymousGVal [V]3271
contig referenceCVal [V]3271
74716574888 rs1471454218 N.D. missenseGGly [G]2271
contig referenceTVal [V]2271
74716575887 rs1158038653 N.D. missenseAIle [I]1271
contig referenceGVal [V]1271
74716580882 rs1429546236 N.D. missenseAHis [H]2269
contig referenceGArg [R]2269
74716581881 rs943671314 N.D. missenseTCys [C]1269
contig referenceCArg [R]1269
74716583879 rs142644174 0.000byCluster missenseTPhe [F]2268
contig referenceCSer [S]2268
74716584878 rs1010615037 N.D. missenseCPro [P]1268
contig referenceTSer [S]1268
74716586876 rs1443602320 N.D. missenseTVal [V]2267
contig referenceGGly [G]2267
74716587875 rs762987810 0.000byFreq missenseASer [S]1267
contig referenceGGly [G]1267
74716588874 rs771402018 0.000 synonymousTAsp [D]3266
contig referenceCAsp [D]3266
74716589873 rs1248024726 N.D. missenseTVal [V]2266
contig referenceAAsp [D]2266
74716590872 rs1230776326 N.D. missenseCHis [H]1266
contig referenceGAsp [D]1266
74716592870 rs149133141 0.000With1000GenomeData0.0002 missenseGCys [C]2265
contig referenceTPhe [F]2265
74716595867 rs762169178 0.000 missenseTLeu [L]2264
contig referenceCPro [P]2264
74716598864 rs1221857085 N.D. missenseAGlu [E]2263
contig referenceCAla [A]2263
74718989861 rs555874983 0.000With1000GenomeData0.0002 missenseCThr [T]2262
contig referenceALys [K]2262
74718990860 rs780906296 0.000 missenseGGlu [E]1262
contig referenceALys [K]1262
74718992858 rs761645282 0.000 missenseGArg [R]2261
contig referenceAHis [H]2261
74718994856 rs1278973451 N.D. synonymousTHis [H]3260
contig referenceCHis [H]3260
74719000850 rs1229866048 N.D. synonymousTGly [G]3258
contig referenceCGly [G]3258
74719001849 rs768757432 0.000 missenseAAsp [D]2258
contig referenceGGly [G]2258
74719002848 rs774693133 0.000byFreq missenseASer [S]1258
contig referenceGGly [G]1258
74719003847 rs371293493 0.001byClusterbyFreqWith1000GenomeData0.0010 synonymousTHis [H]3257
contig referenceCHis [H]3257
74719006844 rs772321218 0.000 missenseAIle [I]3256
contig referenceGMet [M]3256
74719009841 rs1441214493 N.D. synonymousAVal [V]3255
contig referenceCVal [V]3255
74719011839 rs773459488 0.000byFreq missenseAIle [I]1255
contig referenceGVal [V]1255
74719020830 rs761217557 0.000byFreq missenseGVal [V]1252
synonymousTLeu [L]1252
contig referenceCLeu [L]1252
74719022828 rs1295244386 N.D. missenseCThr [T]2251
contig referenceTMet [M]2251
74719023827 rs1471329960 N.D. missenseGVal [V]1251
missenseTLeu [L]1251
contig referenceAMet [M]1251
74719024826 rs146684287 0.000byCluster missenseGMet [M]3250
contig referenceCIle [I]3250
74719027823 rs1157291296 N.D. synonymousTLeu [L]3249
contig referenceCLeu [L]3249
74719029821 rs1054114951 N.D. missenseTPhe [F]1249
contig referenceCLeu [L]1249
74719033817 rs776851677 0.000byFreq synonymousCTyr [Y]3247
contig referenceTTyr [Y]3247
74719034816 rs760000001 0.000 missenseGCys [C]2247
contig referenceATyr [Y]2247
74719041809 rs201126702 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAAsn [N]1245
contig referenceGAsp [D]1245
74719042808 rs142632840 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTSer [S]3244
contig referenceCSer [S]3244
74719044806 rs1377939035 N.D. missenseGGly [G]1244
contig referenceASer [S]1244
74719049801 rs758016356 0.000 missenseTLeu [L]2242
contig referenceCPro [P]2242
74719050800 rs763544424 0.000 missenseAThr [T]1242
contig referenceCPro [P]1242
74719055795 rs1336187254 N.D. missenseCThr [T]2240
contig referenceTMet [M]2240
74719056794 rs367933620 0.000byCluster missenseGVal [V]1240
contig referenceAMet [M]1240
74719060790 rs1286114110 N.D. missenseGLeu [L]3238
contig referenceCPhe [F]3238
74719065785 rs757119964 0.000 missenseGVal [V]1237
contig referenceCLeu [L]1237
74719066784 rs781172621 0.000byFreq missenseGLeu [L]3236
synonymousTPhe [F]3236
contig referenceCPhe [F]3236
74719070780 rs572112273 0.000With1000GenomeData0.0002 missenseAHis [H]2235
contig referenceGArg [R]2235
74719072778 rs778973971 0.000 missenseGGln [Q]3234
contig referenceCHis [H]3234
74719075775 rs906411491 N.D. synonymousTIle [I]3233
contig referenceCIle [I]3233
74719086764 rs1251854904 N.D. missenseALys [K]1230
contig referenceGGlu [E]1230
74719087763 rs748364155 0.000byFreq synonymousTIle [I]3229
contig referenceCIle [I]3229
74719088762 rs1180435683 N.D. missenseCThr [T]2229
contig referenceTIle [I]2229
74719092758 rs1218209354 N.D. missenseTPhe [F]1228
contig referenceCLeu [L]1228
74719094756 rs772449065 0.000 missenseCThr [T]2227
contig referenceGSer [S]2227
74719097753 rs1285595223 N.D. nonsenseA2226
contig referenceGTrp [W]2226
74719099751 rs371803211 0.000byClusterbyFreq synonymousGLeu [L]3225
synonymousTLeu [L]3225
contig referenceCLeu [L]3225
74719101749 rs771564922 0.000byFreq missenseTPhe [F]1225
contig referenceCLeu [L]1225
74719102748 rs376180814 0.000byClusterbyFreq missenseALeu [L]3224
contig referenceCPhe [F]3224
74719105745 rs369504312 0.000byClusterbyFreq synonymousCThr [T]3223
contig referenceAThr [T]3223
74719116734 rs1171991918 N.D. missenseGVal [V]1220
contig referenceAMet [M]1220
74719120730 rs770149919 0.000byFreq synonymousGLeu [L]3218
contig referenceCLeu [L]3218
74719125725 rs775750642 0.000byFreq missenseAArg [R]1217
missenseCArg [R]1217
contig referenceGGly [G]1217
74719126724 rs762526718 0.000byFreq synonymousGPro [P]3216
synonymousTPro [P]3216
contig referenceCPro [P]3216
74719130720 rs1349608524 N.D. missenseATyr [Y]2215
contig referenceTPhe [F]2215
74719132718 rs1405183655 N.D. missenseAIle [I]3214
missenseCIle [I]3214
contig referenceGMet [M]3214
74719133717 rs1302881668 N.D. missenseCThr [T]2214
contig referenceTMet [M]2214
74719134716 rs1360442083 N.D. missenseGVal [V]1214
contig referenceAMet [M]1214
74719139711 rs759577964 N.D. missenseGArg [R]2212
contig referenceALys [K]2212
74719140710 rs751056475 0.000 missenseGGlu [E]1212
contig referenceALys [K]1212
74719141709 rs761379296 0.000byFreq synonymousTPro [P]3211
contig referenceCPro [P]3211
74719142708 rs1344911374 N.D. missenseTLeu [L]2211
contig referenceCPro [P]2211
74719143707 rs993592575 N.D. missenseTSer [S]1211
contig referenceCPro [P]1211
74719144706 rs767410582 0.000 synonymousAVal [V]3210
contig referenceGVal [V]3210
74719146704 rs541338991 0.000byFreqWith1000GenomeData0.0002 missenseTLeu [L]1210
contig referenceGVal [V]1210
74719150700 rs756025962 0.000byFreq synonymousAVal [V]3208
contig referenceGVal [V]3208
74719152698 rs1026526407 N.D. missenseAMet [M]1208
contig referenceGVal [V]1208
74719153697 rs779856022 0.000 synonymousAThr [T]3207
synonymousCThr [T]3207
synonymousTThr [T]3207
contig referenceGThr [T]3207
74719154696 rs372445274 0.000byClusterbyFreq missenseTMet [M]2207
contig referenceCThr [T]2207
74726225689 rs1320517670 N.D. missenseALys [K]1205
contig referenceGGlu [E]1205
74726230684 rs749620420 0.000byFreq missenseGArg [R]2203
missenseTIle [I]2203
contig referenceCThr [T]2203
74726236678 rs1230476289 N.D. missenseTLeu [L]2201
contig referenceCSer [S]2201
74726238676 rs774718977 0.000byFreq synonymousAThr [T]3200
contig referenceGThr [T]3200
74726239675 rs139261750 0.000byCluster missenseTMet [M]2200
contig referenceCThr [T]2200
74726246652 rs1467023839 N.D. frame shift-Leu [L]3193
contig reference(17bp)Gln [Q]3193
74726247667 rs1240046399 N.D. synonymousTArg [R]3197
contig referenceAArg [R]3197
74726248666 rs771625273 0.000byFreq missenseAGln [Q]2197
contig referenceGArg [R]2197
74726249665 rs1463651673 N.D. nonsenseT1197
contig referenceCArg [R]1197
74726250664 rs1208153746 N.D. synonymousAVal [V]3196
contig referenceCVal [V]3196
74726252662 rs565757665 0.000byFreqWith1000GenomeData0.0002 missenseAIle [I]1196
missenseTPhe [F]1196
contig referenceGVal [V]1196
74726253661 rs940374724 N.D. synonymousTAsn [N]3195
contig referenceCAsn [N]3195
74726254660 rs1483551228 N.D. missenseGSer [S]2195
contig referenceAAsn [N]2195
74726265649 rs766313852 0.000 synonymousCPhe [F]3191
contig referenceTPhe [F]3191
74726268646 rs138892784 0.002byClusterbyFreqWith1000GenomeData0.0006 synonymousAThr [T]3190
contig referenceCThr [T]3190
74726269645 rs1423010539 N.D. missenseAAsn [N]2190
contig referenceCThr [T]2190
74726272642 rs370682047 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2189
contig referenceGArg [R]2189
74726273641 rs765086319 0.000 nonsenseT1189
contig referenceCArg [R]1189
74726281633 rs991788158 N.D. missenseATyr [Y]2186
contig referenceCSer [S]2186
74726284630 rs752546362 0.000 nonsenseA2185
missenseCSer [S]2185
contig referenceGTrp [W]2185
74726287627 rs757444137 0.000 missenseTIle [I]2184
contig referenceGSer [S]2184
74726289625 rs767690383 0.000 synonymousTLeu [L]3183
contig referenceCLeu [L]3183
74726293621 rs1438025005 N.D. missenseGCys [C]2182
contig referenceATyr [Y]2182
74726295619 rs750511573 0.000 synonymousALeu [L]3181
contig referenceGLeu [L]3181
74726298616 rs150423523 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousTVal [V]3180
contig referenceGVal [V]3180
74726300614 rs1392329896 N.D. missenseAMet [M]1180
contig referenceGVal [V]1180
74726301613 rs75711361 0.005byClusterbyFreqWith1000GenomeData0.0062 synonymousALeu [L]3179
contig referenceGLeu [L]3179
74726306608 rs749744896 0.000 missenseTSer [S]1178
contig referenceCPro [P]1178
74726307607 rs775888031 0.000byFreq synonymousAVal [V]3177
contig referenceGVal [V]3177
74726309605 rs201500782 0.000byClusterbyFreq missenseAMet [M]1177
contig referenceGVal [V]1177
74726313601 rs1313960611 N.D. synonymousAIle [I]3175
contig referenceCIle [I]3175
74726320594 rs931131215 N.D. missenseTLeu [L]2173
contig referenceCPro [P]2173
74726327587 rs1235656439 N.D. missenseGGly [G]1171
contig referenceASer [S]1171
74726328586 rs1482825977 N.D. nonsenseG3170
contig referenceCTyr [Y]3170
74727246580 rs758742229 0.000 synonymousGVal [V]3168
contig referenceCVal [V]3168
74727247579 rs778226239 0.000byFreq missenseCAla [A]2168
contig referenceTVal [V]2168
74727248578 rs1450639920 N.D. missenseCLeu [L]1168
contig referenceGVal [V]1168
74727253573 rs746605230 0.000 missenseCThr [T]2166
contig referenceALys [K]2166
74727260566 rs770624203 0.000byFreq missenseGVal [V]1164
missenseTPhe [F]1164
contig referenceCLeu [L]1164
74727263563 rs745430083 0.000 missenseASer [S]1163
contig referenceGGly [G]1163
74727264562 rs371859188 0.000byClusterbyFreq missenseCAsp [D]3162
contig referenceGGlu [E]3162
74727270556 rs775608310 0.000byFreq synonymousTLeu [L]3160
contig referenceCLeu [L]3160
74727271555 rs138240770 0.000 missenseAHis [H]2160
contig referenceTLeu [L]2160
74727272554 rs1434512253 N.D. missenseAIle [I]1160
contig referenceCLeu [L]1160
74727273553 rs1274343793 N.D. missenseGGlu [E]3159
contig referenceCAsp [D]3159
74727274552 rs149561762 0.000byCluster missenseGGly [G]2159
contig referenceAAsp [D]2159
74727279547 rs146060468 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGGln [Q]3157
contig referenceCHis [H]3157
74727287539 rs774231502 0.000 missenseTPhe [F]1155
contig referenceCLeu [L]1155
74727288538 rs1339851684 N.D. synonymousTArg [R]3154
contig referenceCArg [R]3154
74727289537 rs1204169977 N.D. missenseAHis [H]2154
missenseTLeu [L]2154
contig referenceGArg [R]2154
74727294532 rs766599125 0.000byFreq synonymousTPro [P]3152
contig referenceCPro [P]3152
74727299527 rs753898846 0.000byFreq missenseGGly [G]1151
contig referenceAArg [R]1151
74727302524 rs1245653901 N.D. missenseGAla [A]1150
contig referenceAThr [T]1150
74727303523 rs1464915275 N.D. synonymousTVal [V]3149
contig referenceGVal [V]3149
74727306520 rs138087787 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAPro [P]3148
synonymousTPro [P]3148
contig referenceGPro [P]3148
74727307519 rs372350326 0.000byCluster missenseTLeu [L]2148
contig referenceCPro [P]2148
74727310515 rs1449308435 N.D. frame shiftCPro [P]1147
contig reference-Gln [Q]1147
74727313513 rs201162733 0.028byClusterbyFreqWith1000GenomeData0.0002 missenseCPro [P]2146
missenseGArg [R]2146
contig referenceAHis [H]2146
74727315511 rs777935324 0.000byFreq synonymousCVal [V]3145
contig referenceTVal [V]3145
74727317509 rs751969460 0.000byFreq missenseAIle [I]1145
contig referenceGVal [V]1145
74727320506 rs781059993 0.000byFreq missenseGGly [G]1144
contig referenceTTrp [W]1144
74727324502 rs142676543 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousCAsp [D]3142
contig referenceTAsp [D]3142
74727325501 rs953982315 N.D. missenseGGly [G]2142
contig referenceAAsp [D]2142
74727326500 rs769477853 0.000byCluster missenseAAsn [N]1142
contig referenceGAsp [D]1142
74727327499 rs201250822 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousTTyr [Y]3141
contig referenceCTyr [Y]3141
74727330496 rs926765011 N.D. synonymousALys [K]3140
contig referenceGLys [K]3140
74727336490 rs901539596 N.D. synonymousGGly [G]3138
contig referenceAGly [G]3138
74727339487 rs749140634 0.000byFreq missenseTPhe [F]3137
synonymousALeu [L]3137
contig referenceGLeu [L]3137
74727340486 rs773958471 0.000 missenseGTrp [W]2137
contig referenceTLeu [L]2137
74727343483 rs761723049 0.000byFreq missenseCPro [P]2136
contig referenceAHis [H]2136
74727344482 rs771134202 0.000 missenseAAsn [N]1136
contig referenceCHis [H]1136
74727345481 rs776875732 0.000byFreq synonymousAGly [G]3135
synonymousGGly [G]3135
synonymousTGly [G]3135
contig referenceCGly [G]3135
74727346480 rs765264675 0.000byFreq missenseAAsp [D]2135
contig referenceGGly [G]2135
74727349477 rs199659429 0.016byClusterbyFreq missenseGGly [G]2134
contig referenceTVal [V]2134
74727349477 rs777658535 0.000 frame shift-Gly [G]2134
contig referenceTVal [V]2134
74727351475 rs763314788 0.000 synonymousAGln [Q]3133
contig referenceGGln [Q]3133
74727355471 rs986558962 N.D. nonsenseA2132
contig referenceGTrp [W]2132
74727357469 rs1226276802 N.D. synonymousALeu [L]3131
contig referenceGLeu [L]3131
74727363463 rs561163080 N.D.byCluster synonymousGPro [P]3129
contig referenceTPro [P]3129
74727366460 rs925293378 N.D. synonymousALys [K]3128
contig referenceGLys [K]3128
74727370456 rs867338122 N.D.byCluster missenseAGln [Q]2127
contig referenceGArg [R]2127
74727371455 rs1210045384 N.D. nonsenseT1127
contig referenceCArg [R]1127
74727372454 rs1245607511 N.D. missenseCCys [C]3126
contig referenceGTrp [W]3126
74727373453 rs1464846983 N.D. missenseTLeu [L]2126
contig referenceGTrp [W]2126
74727375451 rs764721748 0.000 missenseAGlu [E]3125
contig referenceCAsp [D]3125
74727376450 rs936626466 N.D. missenseGGly [G]2125
contig referenceAAsp [D]2125
74727383443 rs751867997 0.000 synonymousTLeu [L]1123
contig referenceCLeu [L]1123
74727384442 rs757737719 0.000 missenseGGlu [E]3122
contig referenceCAsp [D]3122
74727386440 rs1162930526 N.D. missenseAAsn [N]1122
contig referenceGAsp [D]1122
74740025437 rs1258347857 N.D. missenseGGlu [E]1121
contig referenceALys [K]1121
74740032430 rs778689972 0.000 synonymousCAsp [D]3118
contig referenceTAsp [D]3118
74740033429 rs929664399 N.D. missenseGGly [G]2118
contig referenceAAsp [D]2118
74740036426 rs145990810 0.000byCluster missenseAGlu [E]2117
missenseCAla [A]2117
contig referenceTVal [V]2117
74740038424 rs758340506 0.000 synonymousCVal [V]3116
synonymousTVal [V]3116
contig referenceGVal [V]3116
74740039423 rs777488679 0.000byFreq missenseAGlu [E]2116
contig referenceTVal [V]2116
74740040422 rs746868199 0.000 missenseAMet [M]1116
contig referenceGVal [V]1116
74740043419 rs1250041931 N.D. missenseCGln [Q]1115
contig referenceALys [K]1115
74740048414 rs147632811 0.003byClusterbyFreqWith1000GenomeData0.0004 missenseAGln [Q]2113
contig referenceGArg [R]2113
74740049413 rs141276237 0.001byClusterbyFreq missenseTTrp [W]1113
contig referenceCArg [R]1113
74740051411 rs749305581 0.000byFreq missenseTLeu [L]2112
contig referenceCPro [P]2112
74740055407 rs1477020267 N.D. missenseALys [K]1111
contig referenceGGlu [E]1111
74740058404 rs1402070038 N.D. missenseGVal [V]1110
contig referenceAMet [M]1110
74740066396 rs1313672576 N.D. missenseGGly [G]2107
contig referenceAAsp [D]2107
74740069393 rs1172884890 N.D. missenseGArg [R]2106
contig referenceCThr [T]2106
74740086376 rs1370993098 N.D. synonymousCLeu [L]3100
contig referenceTLeu [L]3100
74740094368 rs768732810 0.000byCluster missenseAIle [I]198
contig referenceGVal [V]198
74740096366 rs1315869673 N.D. missenseTLeu [L]297
contig referenceCPro [P]297
74740100362 rs762343484 0.000 missenseALys [K]196
contig referenceGGlu [E]196
74740101361 rs772718168 0.000 synonymousTAsn [N]395
contig referenceCAsn [N]395
74740102360 rs1302771958 N.D. missenseGSer [S]295
contig referenceAAsn [N]295
74740103359 rs773696633 0.000byFreq missenseGAsp [D]195
contig referenceAAsn [N]195
74740106356 rs761184809 0.000 missenseALys [K]194
contig referenceGGlu [E]194
74740112350 rs1298958155 N.D. missenseCPro [P]192
contig referenceTSer [S]192
74740115347 rs1400803879 N.D. missenseASer [S]191
contig referenceGGly [G]191
74774489343 rs1296540790 N.D. missenseTHis [H]389
contig referenceGGln [Q]389
74774492340 rs541909354 0.000With1000GenomeData0.0002 synonymousAGlu [E]388
contig referenceGGlu [E]388
74774495337 rs1353877579 N.D. synonymousAGly [G]387
contig referenceGGly [G]387
74774497335 rs561760287 0.000With1000GenomeData0.0002 missenseTTrp [W]187
contig referenceGGly [G]187
74774498334 rs1303662341 N.D. synonymousTArg [R]386
contig referenceCArg [R]386
74774500332 rs1433561499 N.D. missenseTCys [C]186
contig referenceCArg [R]186
74774501331 rs1288777169 N.D. synonymousTLeu [L]385
contig referenceCLeu [L]385
74774504328 rs1380405813 N.D. synonymousAGlu [E]384
contig referenceGGlu [E]384
74774505327 rs1398152610 N.D. missenseGGly [G]284
contig referenceAGlu [E]284
74774506326 rs1310923819 N.D. missenseALys [K]184
contig referenceGGlu [E]184
74774509323 rs1355077270 N.D. missenseAArg [R]183
contig referenceGGly [G]183
74774510322 rs751449227 0.000 synonymousAVal [V]382
contig referenceGVal [V]382
74774512320 rs942823747 N.D. missenseAMet [M]182
missenseCLeu [L]182
missenseTLeu [L]182
contig referenceGVal [V]182
74774513319 rs1419316319 N.D. synonymousTTyr [Y]381
contig referenceCTyr [Y]381
74774519313 rs1409619243 N.D. synonymousAGln [Q]379
contig referenceGGln [Q]379
74774524308 rs527421775 0.001byFreqWith1000GenomeData0.0002 missenseALys [K]178
contig referenceGGlu [E]178
74774528304 rs1260040689 N.D. missenseTCys [C]376
contig referenceGTrp [W]376
74774529303 rs1225330805 N.D. missenseTLeu [L]276
contig referenceGTrp [W]276
74774533299 rs1483492053 N.D. missenseASer [S]175
missenseGGly [G]175
contig referenceCArg [R]175
74774544288 rs1183364471 N.D. missenseAAsp [D]271
contig referenceCAla [A]271
74774545287 rs1255059436 N.D. missenseAThr [T]171
contig referenceGAla [A]171
74774547285 rs1474677269 N.D. missenseTLeu [L]270
contig referenceCSer [S]270
74774549283 rs997310209 N.D. missenseGGln [Q]369
contig referenceCHis [H]369
74774554278 rs750198250 0.000byFreq missenseGGly [G]168
contig referenceAArg [R]168
74774554276 rs1413600445 N.D. -267
74774556276 rs1278265062 N.D. missenseTLeu [L]267
contig referenceAHis [H]267
74774558274 rs570454174 0.000byFreqWith1000GenomeData0.0006 synonymousAPro [P]366
synonymousCPro [P]366
contig referenceGPro [P]366
74774559273 rs1360240159 N.D. missenseGArg [R]266
contig referenceCPro [P]266
74774560272 rs1467977455 N.D. missenseTSer [S]166
contig referenceCPro [P]166
74774561271 rs779343147 0.000 synonymousAPro [P]365
contig referenceGPro [P]365
74774565267 rs1018243235 N.D. missenseAGlu [E]264
contig referenceGGly [G]264
74774566266 rs1410690526 N.D. missenseAArg [R]164
missenseTTrp [W]164
contig referenceGGly [G]164
74774572260 rs748204186 0.000 synonymousTLeu [L]162
contig referenceCLeu [L]162
74774573259 rs1348750450 N.D. synonymousTAsp [D]361
contig referenceCAsp [D]361
74774575257 rs1223285087 N.D. missenseAAsn [N]161
contig referenceGAsp [D]161
74774576256 rs1306270479 N.D. synonymousAAla [A]360
synonymousGAla [A]360
contig referenceCAla [A]360
74774578254 rs533048648 0.000byFreqWith1000GenomeData0.0002 missenseAThr [T]160
contig referenceGAla [A]160
74774579253 rs1436602238 N.D. synonymousTSer [S]359
contig referenceCSer [S]359
74774583249 rs990027087 N.D. missenseCThr [T]258
contig referenceTIle [I]258
74774593239 rs1212063848 N.D. missenseASer [S]155
contig referenceGGly [G]155
74774594238 rs778018677 0.000byFreq synonymousAAla [A]354
contig referenceGAla [A]354
74774595237 rs1485211772 N.D. missenseGGly [G]254
missenseTVal [V]254
contig referenceCAla [A]254
74774605227 rs1205480989 N.D. missenseTTrp [W]151
contig referenceCArg [R]151
74774608224 rs1346624061 N.D. synonymousTLeu [L]150
contig referenceCLeu [L]150
74774614218 rs1253521818 N.D. missenseALys [K]148
contig referenceCGln [Q]148
74774615217 rs1418044578 N.D. synonymousAGlu [E]347
contig referenceGGlu [E]347
74774624208 rs999830038 N.D. synonymousAPro [P]344
contig referenceGPro [P]344
74774625207 rs915291720 N.D. missenseAGln [Q]244
missenseGArg [R]244
contig referenceCPro [P]244
74774626206 rs1268722908 N.D. missenseTSer [S]144
contig referenceCPro [P]144
74774628204 rs1187490570 N.D. missenseCPro [P]243
contig referenceAHis [H]243
74774630202 rs1176139669 N.D. synonymousTHis [H]342
contig referenceCHis [H]342
74774634198 rs747507656 0.000 missenseAGln [Q]241
missenseTLeu [L]241
contig referenceGArg [R]241
74774635197 rs1435457299 N.D. missenseGGly [G]141
synonymousAArg [R]141
contig referenceCArg [R]141
74774638194 rs771357835 0.000 missenseCLeu [L]140
contig referenceGVal [V]140
74774642190 rs777043040 0.000 synonymousTSer [S]338
contig referenceCSer [S]338
74774642189 rs966836377 N.D. frame shiftTTSer [S]239
contig reference-Phe [F]239
74774644188 rs1310159362 N.D. missenseGGly [G]138
contig referenceASer [S]138
74774645187 rs1352963067 N.D. synonymousTSer [S]337
contig referenceCSer [S]337
74774649183 rs1441667867 N.D. missenseGArg [R]236
contig referenceTLeu [L]236
74774650182 rs1294196562 N.D. missenseAIle [I]136
contig referenceCLeu [L]136
74774651181 rs1215324001 N.D. synonymousTAsp [D]335
contig referenceCAsp [D]335
74774654178 rs957683798 N.D. nonsenseG334
contig referenceCTyr [Y]334
74774660172 rs1012042641 N.D. synonymousTArg [R]332
contig referenceCArg [R]332
74774661171 rs1369764651 N.D. missenseTLeu [L]232
contig referenceGArg [R]232
74774662170 rs978032580 N.D. missenseASer [S]132
missenseGGly [G]132
missenseTCys [C]132
contig referenceCArg [R]132
74774666166 rs1301123071 N.D. synonymousAGly [G]330
contig referenceGGly [G]330
74774668164 rs1300443742 N.D. missenseAArg [R]130
contig referenceGGly [G]130
74774669163 rs746288688 0.000 synonymousGArg [R]329
synonymousTArg [R]329
contig referenceCArg [R]329
74774671161 rs550064357 0.001byFreqWith1000GenomeData0.0004 missenseGGly [G]129
contig referenceCArg [R]129
74774674158 rs775172785 0.000 missenseASer [S]128
missenseTCys [C]128
contig referenceCArg [R]128
74774675157 rs1055297914 N.D. synonymousGVal [V]327
contig referenceCVal [V]327
74774676156 rs1406286523 N.D. missenseAAsp [D]227
contig referenceTVal [V]227
74774685147 rs762615677 0.000 missenseGGly [G]224
missenseTVal [V]224
contig referenceCAla [A]224
74774689143 rs1327873526 N.D. missenseCArg [R]123
contig referenceGGly [G]123
74774690142 rs941508343 N.D. synonymousGAla [A]322
contig referenceCAla [A]322
74774692140 rs970436944 N.D. missenseAThr [T]122
contig referenceGAla [A]122
74774693139 rs1430731101 N.D. synonymousTAla [A]321
contig referenceGAla [A]321
74774700132 rs1246805290 N.D. missenseTLeu [L]219
contig referenceGArg [R]219
74774701131 rs763556766 0.000byFreq missenseTCys [C]119
contig referenceCArg [R]119
74774710122 rs1192351415 N.D. missenseAIle [I]116
contig referenceGVal [V]116
74774711121 rs1038553022 N.D. synonymousAGlu [E]315
contig referenceGGlu [E]315
74774717115 rs896869302 N.D. synonymousGPro [P]313
synonymousTPro [P]313
contig referenceCPro [P]313
74774718114 rs1395004209 N.D. missenseTLeu [L]213
contig referenceCPro [P]213
74774721111 rs1245153953 N.D. missenseTLeu [L]212
contig referenceCSer [S]212
74774722110 rs993939257 N.D. missenseAThr [T]112
contig referenceTSer [S]112
74774722108 rs1201877227 N.D. -211
74774723109 rs982322157 N.D. missenseALeu [L]311
contig referenceCPhe [F]311
74774727105 rs12930196 N.D. missenseTPhe [F]210
contig referenceCSer [S]210
74774730102 rs12930201 N.D. missenseTVal [V]29
contig referenceCAla [A]29
74774731101 rs890791998 N.D. missenseCPro [P]19
contig referenceGAla [A]19
7477473597 rs918733475 N.D. synonymousAPro [P]37
contig referenceCPro [P]37
7477473993 rs1018191043 N.D. missenseTLeu [L]26
contig referenceCPro [P]26
7477474092 rs773739894 0.000 missenseTSer [S]16
contig referenceCPro [P]16
7477474191 rs1409639099 N.D. synonymousAPro [P]35
contig referenceGPro [P]35
7477474290 rs951692119 N.D. missenseTLeu [L]25
contig referenceCPro [P]25
7477474686 rs1272032670 N.D. missenseTSer [S]14
contig referenceGAla [A]14
7477475082 rs113471134 N.D. synonymousTAla [A]32
contig referenceCAla [A]32
7477475181 rs1337944520 N.D. missenseAAsp [D]22
missenseTVal [V]22
contig referenceCAla [A]22