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SNP linked to Gene (geneID:5224) 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): 1
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_000290.3minus strandNP_000281.2reverseNT_007819.18GRCh38.p7<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_007819.18NM_000290.3NP_000281.2reverseminus strand323, 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
44062767817 rs1345595583 N.D. synonymousALys [K]3253
contig referenceGLys [K]3253
44062771813 rs752958758 0.000byFreq missenseAAsp [D]2252
contig referenceCAla [A]2252
44062772812 rs1217430345 N.D. missenseCPro [P]1252
contig referenceGAla [A]1252
44062775809 rs758601502 0.000 missenseCGln [Q]1251
contig referenceALys [K]1251
44062778806 rs764220820 0.000 missenseASer [S]1250
contig referenceGGly [G]1250
44062782802 rs1212190997 N.D. synonymousTAla [A]3248
contig referenceCAla [A]3248
44062783800 rs144439892 N.D.With1000GenomeData Yesframe shiftGGly [G]1248
contig reference-Ala [A]1248
44062783801 rs545672711 0.000With1000GenomeData0.0002 missenseTVal [V]2248
contig referenceCAla [A]2248
44062786798 rs757261186 0.000 missenseTVal [V]2247
contig referenceCAla [A]2247
44062787797 rs781204477 0.000byFreq missenseAThr [T]1247
contig referenceGAla [A]1247
44062799785 rs745751353 0.000 missenseTLeu [L]1243
contig referenceAMet [M]1243
44062800784 rs142209394 0.001byClusterbyFreqWith1000GenomeData0.0006 YessynonymousTAla [A]3242
contig referenceCAla [A]3242
44062801783 rs1327880881 N.D. missenseTVal [V]2242
contig referenceCAla [A]2242
44062806778 rs779691052 0.000byFreq synonymousCArg [R]3240
contig referenceGArg [R]3240
44062807777 rs369482159 0.000byClusterbyFreq YesmissenseAGln [Q]2240
contig referenceGArg [R]2240
44062808776 rs375024229 0.000byClusterbyFreq YesmissenseGGly [G]1240
missenseTTrp [W]1240
contig referenceCArg [R]1240
44062810774 rs1336747860 N.D. missenseCAla [A]2239
contig referenceTVal [V]2239
44062811773 rs1341500893 N.D. missenseCLeu [L]1239
contig referenceGVal [V]1239
44062812772 rs747672660 0.000byFreq synonymousAThr [T]3238
synonymousCThr [T]3238
contig referenceGThr [T]3238
44062813771 rs146676508 0.000byClusterbyFreq YesmissenseTMet [M]2238
contig referenceCThr [T]2238
44062819765 rs140230479 0.002byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCAla [A]2236
contig referenceAGlu [E]2236
44062820764 rs144070530 0.000byCluster YesmissenseALys [K]1236
contig referenceGGlu [E]1236
44062828756 rs201126185 0.000byClusterWith1000GenomeData0.0002 YesmissenseGArg [R]2233
contig referenceTLeu [L]2233
44062829755 rs1241200596 N.D. missenseAMet [M]1233
contig referenceCLeu [L]1233
44062833751 rs763228705 0.000 missenseTHis [H]3231
contig referenceGGln [Q]3231
44062835749 rs940696430 N.D. nonsenseT1231
contig referenceCGln [Q]1231
44062838745 rs757345987 0.000byFreq frame shiftCHis [H]3230
contig reference-Met [M]3230
44062841743 rs912543676 N.D. missenseTSer [S]1229
contig referenceCPro [P]1229
44062847737 rs1129670 N.D.byCluster YesmissenseCPro [P]1227
contig referenceAThr [T]1227
44062849735 rs146440683 0.000 YesmissenseTLeu [L]2226
contig referenceCPro [P]2226
44062850734 rs1478707985 N.D. missenseTSer [S]1226
contig referenceCPro [P]1226
44062852732 rs1036351552 N.D. missenseCThr [T]2225
contig referenceALys [K]2225
44062853731 rs764304891 0.000byFreq missenseCGln [Q]1225
contig referenceALys [K]1225
44062862722 rs766323932 N.D. nonsenseT1222
contig referenceALys [K]1222
44062872712 rs751725322 0.000 synonymousCTyr [Y]3218
contig referenceTTyr [Y]3218
44062877707 rs899132684 N.D. missenseAMet [M]1217
contig referenceGVal [V]1217
44062879705 rs761976600 0.000byFreq missenseCThr [T]2216
contig referenceTIle [I]2216
44062884700 rs1239826659 N.D. synonymousTIle [I]3214
contig referenceCIle [I]3214
44062885699 rs767463141 0.000 missenseCThr [T]2214
contig referenceTIle [I]2214
44062889695 rs750422335 0.000 missenseAArg [R]1213
contig referenceGGly [G]1213
44062890694 rs755991460 0.000byFreq synonymousAThr [T]3212
contig referenceGThr [T]3212
44062891693 rs779964633 0.000byFreq missenseTMet [M]2212
contig referenceCThr [T]2212
44062892692 rs753686991 0.000 missenseCPro [P]1212
missenseTSer [S]1212
contig referenceAThr [T]1212
44062907677 rs1426478791 N.D. missenseALys [K]1207
contig referenceGGlu [E]1207
44062909675 rs1465615656 N.D. missenseCThr [T]2206
contig referenceTMet [M]2206
44062913671 rs754757980 0.000 missenseTPhe [F]1205
contig referenceAIle [I]1205
44062914670 rs778727645 0.000byFreq synonymousAAla [A]3204
contig referenceGAla [A]3204
44062915669 rs747760221 0.000byFreq missenseGGly [G]2204
missenseTVal [V]2204
contig referenceCAla [A]2204
44062922662 rs1255502985 N.D. missenseTTyr [Y]1202
contig referenceGAsp [D]1202
44062924660 rs913144260 N.D. nonsenseA2201
contig referenceCSer [S]2201
44062927657 rs1323154683 N.D. missenseCThr [T]2200
contig referenceTMet [M]2200
44062929655 rs200712029 0.000byClusterWith1000GenomeData0.0002 YessynonymousTGly [G]3199
contig referenceGGly [G]3199
44062930654 rs1329346115 N.D. missenseAGlu [E]2199
contig referenceGGly [G]2199
44064832653 rs201908821 0.000byClusterbyFreq YesmissenseTTrp [W]1199
contig referenceGGly [G]1199
44064839646 rs1001161504 N.D. missenseAGln [Q]3196
synonymousTHis [H]3196
contig referenceCHis [H]3196
44064840645 rs1032361554 N.D. missenseCPro [P]2196
contig referenceAHis [H]2196
44064843642 rs754849558 0.000byFreq missenseGArg [R]2195
contig referenceALys [K]2195
44064844641 rs558829258 0.000With1000GenomeData0.0002 missenseCGln [Q]1195
missenseGGlu [E]1195
contig referenceALys [K]1195
44064849636 rs529416707 N.D.byCluster missenseCThr [T]2193
contig referenceTIle [I]2193
44064852633 rs778627941 0.000 frame shift-Ala [A]2192
contig referenceGGly [G]2192
44064854631 rs752446909 0.000 synonymousTArg [R]3191
contig referenceGArg [R]3191
44064855630 rs1300195215 N.D. missenseAGln [Q]2191
contig referenceGArg [R]2191
44064856629 rs368258088 0.000byClusterbyFreq YesmissenseTTrp [W]1191
contig referenceCArg [R]1191
44064858627 rs981426181 N.D. missenseCPro [P]2190
contig referenceTLeu [L]2190
44064860625 rs1395436265 N.D. missenseGArg [R]3189
contig referenceCSer [S]3189
44064866619 rs1184473139 N.D. synonymousCGly [G]3187
contig referenceGGly [G]3187
44064868617 rs777413303 0.000byFreq missenseAArg [R]1187
missenseCArg [R]1187
contig referenceGGly [G]1187
44064869616 rs371937909 0.000byClusterbyFreq YessynonymousTHis [H]3186
contig referenceCHis [H]3186
44064871614 rs756734437 0.000 missenseTTyr [Y]1186
contig referenceCHis [H]1186
44064874611 rs1308084353 N.D. missenseAThr [T]1185
contig referenceGAla [A]1185
44064876609 rs570859446 0.000With1000GenomeData0.0002 missenseTVal [V]2184
contig referenceCAla [A]2184
44064877608 rs1218144218 N.D. missenseAThr [T]1184
contig referenceGAla [A]1184
44064882603 rs749757183 0.000byClusterbyFreq missenseCPro [P]2182
contig referenceTLeu [L]2182
44064882602 rs1197908775 N.D. frame shift(10bp)Gln [Q]1182
contig reference-Leu [L]1182
44064883602 rs141047511 0.000byClusterbyFreq YesmissenseTPhe [F]1182
contig referenceCLeu [L]1182
44064884601 rs774684004 0.000 synonymousAVal [V]3181
contig referenceGVal [V]3181
44064887598 rs1254453328 N.D. synonymousGArg [R]3180
contig referenceAArg [R]3180
44064888597 rs375305359 0.000byCluster YesmissenseAGln [Q]2180
contig referenceGArg [R]2180
44064889596 rs540266988 N.D.byCluster nonsenseT1180
synonymousAArg [R]1180
contig referenceCArg [R]1180
44064890595 rs1310902449 N.D. synonymousALys [K]3179
contig referenceGLys [K]3179
44064894591 rs747947171 0.000byFreq frame shift-Ala [A]2178
contig referenceGGly [G]2178
44064895590 rs772187619 0.000byFreq missenseASer [S]1178
contig referenceGGly [G]1178
44064896589 rs555158017 0.000byCluster synonymousGAla [A]3177
synonymousTAla [A]3177
contig referenceCAla [A]3177
44064898587 rs887686454 N.D. missenseAThr [T]1177
contig referenceGAla [A]1177
44064901584 rs760688157 0.000byFreq missenseCGln [Q]1176
missenseGGlu [E]1176
contig referenceALys [K]1176
44064902583 rs369973782 0.000byCluster YessynonymousTIle [I]3175
contig referenceCIle [I]3175
44064904565 rs1348964275 N.D. frame shift-Asp [D]3169
contig reference(17bp)Glu [E]3169
44064905580 rs534311928 0.000With1000GenomeData0.0002 missenseCHis [H]3174
synonymousAGln [Q]3174
contig referenceGGln [Q]3174
44064907577 rs758337311 0.000 frame shift(29bp)Cys [C]3174
contig reference-Gln [Q]3174
44064909576 rs765184400 0.000 missenseTLeu [L]2173
contig referenceCPro [P]2173
44064912573 rs370003298 0.000byClusterbyFreq YesmissenseCAla [A]2172
missenseGGly [G]2172
contig referenceTVal [V]2172
44064914570 rs777757414 0.000 GATMet [M]2170
44064916569 rs372452057 0.000byClusterWith1000GenomeData0.0002 YesmissenseCLeu [L]1171
missenseGVal [V]1171
contig referenceAIle [I]1171
44064917566 rs746517644 0.000 -1170
44064922563 rs758149782 0.000 missenseALys [K]1169
contig referenceGGlu [E]1169
44064923562 rs1309303593 N.D. synonymousTAsn [N]3168
contig referenceCAsn [N]3168
44064924561 rs908881822 N.D. missenseGSer [S]2168
contig referenceAAsn [N]2168
44064926559 rs150235677 0.000byClusterbyFreq YesmissenseTCys [C]3167
contig referenceGTrp [W]3167
44064932553 rs990564712 N.D. synonymousAPro [P]3165
contig referenceCPro [P]3165
44064934551 rs1484566307 N.D. missenseAThr [T]1165
contig referenceCPro [P]1165
44064938547 rs1201379677 N.D. synonymousGAla [A]3163
synonymousTAla [A]3163
contig referenceCAla [A]3163
44064939546 rs997229726 N.D. missenseTVal [V]2163
contig referenceCAla [A]2163
44064942543 rs138954968 0.000byClusterbyFreq YesmissenseAGln [Q]2162
missenseCPro [P]2162
contig referenceGArg [R]2162
44064943542 rs199977298 0.000byClusterWith1000GenomeData0.0002 YesmissenseTTrp [W]1162
contig referenceCArg [R]1162
44064945540 rs1490964992 N.D. missenseTVal [V]2161
contig referenceCAla [A]2161
44064946539 rs770500088 0.000 frame shift-Pro [P]1161
contig referenceGAla [A]1161
44064947538 rs780650903 0.000byFreq synonymousCIle [I]3160
contig referenceTIle [I]3160
44064948537 rs749850365 0.000 missenseCThr [T]2160
contig referenceTIle [I]2160
44064949536 rs1352617775 N.D. missenseGVal [V]1160
contig referenceAIle [I]1160
44064950535 rs1174129738 N.D. synonymousTThr [T]3159
contig referenceCThr [T]3159
44064952533 rs755472072 0.000 missenseGAla [A]1159
contig referenceAThr [T]1159
44064962523 rs149013778 0.000byCluster YesmissenseAArg [R]3155
contig referenceCSer [S]3155
44064967518 rs763664797 0.000byFreq missenseALys [K]1154
contig referenceGGlu [E]1154
44064968517 rs143809043 0.002byClusterbyFreqWith1000GenomeData0.0006 YessynonymousTCys [C]3153
contig referenceCCys [C]3153
44064972513 rs199869174 0.000byClusterbyFreq YesmissenseAAsn [N]2152
missenseTIle [I]2152
contig referenceCThr [T]2152
44064973512 rs763114348 N.D. missenseCPro [P]1152
contig referenceAThr [T]1152
44064974511 rs776455674 0.000 frame shift-Pro [P]3152
contig referenceCThr [T]3152
44064980505 rs773335005 0.000 missenseTAsp [D]3149
contig referenceAGlu [E]3149
44064981504 rs747220234 0.000 missenseGGly [G]2149
contig referenceAGlu [E]2149
44064982503 rs1302854071 N.D. missenseALys [K]1149
contig referenceGGlu [E]1149
44064985500 rs117048953 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAArg [R]1148
contig referenceGGly [G]1148
44064986499 rs373213851 0.000byClusterbyFreq YessynonymousTPro [P]3147
contig referenceCPro [P]3147
44064989496 rs1189370090 N.D. synonymousALys [K]3146
contig referenceGLys [K]3146
44064994491 rs371397012 0.000byClusterbyFreq YessynonymousTLeu [L]1145
contig referenceCLeu [L]1145
44064996489 rs1316472404 N.D. missenseAAsp [D]2144
contig referenceGGly [G]2144
44064997488 rs765274227 0.000byFreq missenseASer [S]1144
contig referenceGGly [G]1144
44065000485 rs775439724 0.000byFreq missenseAThr [T]1143
missenseCPro [P]1143
contig referenceGAla [A]1143
44065001484 rs376134077 0.000byClusterbyFreqWith1000GenomeData0.0002 YesnonsenseA3142
nonsenseG3142
synonymousTTyr [Y]3142
contig referenceCTyr [Y]3142
44065002483 rs1189526765 N.D. missenseCSer [S]2142
contig referenceATyr [Y]2142
44065004481 rs756887283 0.000 synonymousTArg [R]3141
contig referenceGArg [R]3141
44065005480 rs144310510 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAGln [Q]2141
contig referenceGArg [R]2141
44065006479 rs1192880670 N.D. missenseGGly [G]1141
missenseTTrp [W]1141
contig referenceCArg [R]1141
44065007478 rs1421129649 N.D. synonymousCArg [R]3140
contig referenceTArg [R]3140
44065008477 rs757821886 0.000byFreq missenseAHis [H]2140
contig referenceGArg [R]2140
44065009476 rs1171211664 N.D. missenseTCys [C]1140
contig referenceCArg [R]1140
44065117471 rs767169540 0.000 missenseCThr [T]2138
contig referenceALys [K]2138
44065121467 rs1402439808 N.D. missenseGGly [G]1137
contig referenceASer [S]1137
44065124464 rs985176683 N.D. missenseGVal [V]1136
missenseTPhe [F]1136
contig referenceAIle [I]1136
44065129459 rs1271092569 N.D. frame shift-Thr [T]2134
contig referenceAAsn [N]2134
44065130458 rs1430355287 N.D. missenseGAsp [D]1134
contig referenceAAsn [N]1134
44065131457 rs1226763336 N.D. synonymousTTyr [Y]3133
contig referenceCTyr [Y]3133
44065131455 rs1378925934 N.D. -1133
44065132456 rs750024442 0.000 missenseGCys [C]2133
contig referenceATyr [Y]2133
44065137451 rs760205991 0.000 synonymousTPro [P]3131
contig referenceCPro [P]3131
44065138450 rs765879047 0.000 missenseTLeu [L]2131
contig referenceCPro [P]2131
44065139449 rs1284038042 N.D. missenseTSer [S]1131
contig referenceCPro [P]1131
44065142446 rs1239874290 N.D. missenseTTyr [Y]1130
contig referenceCHis [H]1130
44065146442 rs1489215177 N.D. synonymousAGlu [E]3128
contig referenceGGlu [E]3128
44065148440 rs368147620 0.000byCluster YesmissenseALys [K]1128
contig referenceGGlu [E]1128
44065149439 rs530105632 0.000byFreqWith1000GenomeData0.0002 synonymousTAsp [D]3127
contig referenceCAsp [D]3127
44065153435 rs758933131 0.000 missenseALys [K]2126
contig referenceTMet [M]2126
44065155433 rs145985559 0.008byClusterbyFreqWith1000GenomeData0.0022 YessynonymousAPro [P]3125
contig referenceGPro [P]3125
44065155432 rs1447284651 N.D. frame shiftCAsp [D]2126
contig reference-Met [M]2126
44065156432 rs1385458139 N.D. missenseTLeu [L]2125
contig referenceCPro [P]2125
44065157431 rs751980210 0.000 missenseAThr [T]1125
contig referenceCPro [P]1125
44065158429 rs745470928 0.000 GCCPro [P]2125
44065159429 rs1156271476 N.D. missenseTLeu [L]2124
contig referenceCPro [P]2124
44065161427 rs202087044 0.000byClusterbyFreqWith1000GenomeData YessynonymousAPro [P]3123
synonymousCPro [P]3123
contig referenceGPro [P]3123
44065162426 rs372435680 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGArg [R]2123
missenseTLeu [L]2123
contig referenceCPro [P]2123
44065164424 rs143830182 0.011byClusterbyFreqWith1000GenomeData0.0026 YessynonymousAPro [P]3122
contig referenceGPro [P]3122
44065165423 rs147273213 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTLeu [L]2122
contig referenceCPro [P]2122
44065167421 rs768642477 0.000 synonymousTIle [I]3121
contig referenceCIle [I]3121
44065170418 rs1305024106 N.D. synonymousTAsp [D]3120
contig referenceCAsp [D]3120
44065171417 rs936491728 N.D. missenseGGly [G]2120
contig referenceAAsp [D]2120
44065172416 rs774216406 0.000byFreq missenseAAsn [N]1120
contig referenceGAsp [D]1120
44065173415 rs761614448 0.000byFreq synonymousTPhe [F]3119
contig referenceCPhe [F]3119
44065174414 rs1307126910 N.D. missenseCSer [S]2119
contig referenceTPhe [F]2119
44065180408 rs201067955 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAHis [H]2117
contig referenceGArg [R]2117
44065181407 rs1224215042 N.D. missenseTCys [C]1117
contig referenceCArg [R]1117
44065185403 rs772891055 0.000 nonsenseA3115
contig referenceGTrp [W]3115
44065188400 rs760297833 0.000 synonymousTIle [I]3114
contig referenceCIle [I]3114
44065189399 rs61756062 0.056byClusterbyFreqWith1000GenomeData0.0547 YesmissenseGSer [S]2114
contig referenceTIle [I]2114
44065196392 rs753385432 0.000byFreq missenseAMet [M]1112
missenseTLeu [L]1112
contig referenceGVal [V]1112
44065197391 rs758904645 0.000 missenseCHis [H]3111
contig referenceGGln [Q]3111
44065199389 rs764676548 0.000 nonsenseT1111
contig referenceCGln [Q]1111
44065200388 rs749441367 0.000byFreq synonymousAGlu [E]3110
contig referenceGGlu [E]3110
44065202386 rs1462327779 N.D. missenseALys [K]1110
contig referenceGGlu [E]1110
44065205383 rs866112110 N.D. missenseALys [K]1109
contig referenceGGlu [E]1109
44065206382 rs112828964 0.017byClusterbyFreqWith1000GenomeData0.0317 YessynonymousAGly [G]3108
contig referenceGGly [G]3108
44065208380 rs374395743 0.000byClusterbyFreq YesmissenseAArg [R]1108
contig referenceGGly [G]1108
44065209379 rs1425067807 N.D. synonymousTHis [H]3107
contig referenceCHis [H]3107
44065210378 rs750726418 0.000 missenseGArg [R]2107
contig referenceAHis [H]2107
44065212376 rs1215292984 N.D. missenseCAsn [N]3106
contig referenceGLys [K]3106
44065215371 rs769549607 0.000byFreq -1105
44065217371 rs368364851 0.000byClusterbyFreq YesmissenseAThr [T]1105
contig referenceGAla [A]1105
44065218370 rs780071162 0.000 synonymousTAla [A]3104
contig referenceCAla [A]3104
44065220368 rs150570281 0.001byClusterbyFreqWith1000GenomeData0.0010 YesmissenseAThr [T]1104
contig referenceGAla [A]1104
44065221367 rs372080857 0.000byClusterbyFreq YessynonymousAThr [T]3103
contig referenceGThr [T]3103
44065222366 rs1443019260 N.D. missenseTMet [M]2103
contig referenceCThr [T]2103
44065223365 rs1331169514 N.D. missenseGAla [A]1103
contig referenceAThr [T]1103
44065224364 rs1315042365 N.D. missenseTAsp [D]3102
contig referenceAGlu [E]3102
44065230358 rs1034635179 N.D. synonymousALys [K]3100
contig referenceGLys [K]3100
44065232356 rs778853009 0.000 missenseGGlu [E]1100
contig referenceALys [K]1100
44065235353 rs1220901183 N.D. missenseGAsp [D]199
contig referenceAAsn [N]199
44065236352 rs958960136 N.D. synonymousALeu [L]398
contig referenceCLeu [L]398
44065238350 rs1129639 N.D. YesmissenseTPhe [F]198
contig referenceCLeu [L]198
44065242346 rs139561812 0.000byClusterbyFreq YessynonymousGThr [T]396
contig referenceAThr [T]396
44065247341 rs1384082005 N.D. missenseTPhe [F]195
contig referenceCLeu [L]195
44065248340 rs1259582457 N.D. synonymousTGly [G]394
contig referenceCGly [G]394
44065249339 rs1438105988 N.D. missenseAAsp [D]294
missenseTVal [V]294
contig referenceGGly [G]294
44065251337 rs772976068 0.000 synonymousAGly [G]393
contig referenceGGly [G]393
44065252336 rs13310406 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGlu [E]293
contig referenceGGly [G]293
44065253335 rs770622502 0.000byFreq missenseAArg [R]193
missenseCArg [R]193
contig referenceGGly [G]193
44065254334 rs201201589 0.000byClusterWith1000GenomeData0.0002 YessynonymousTTyr [Y]392
contig referenceCTyr [Y]392
44065256332 rs1479523853 N.D. missenseCHis [H]192
contig referenceTTyr [Y]192
44065258330 rs1303071891 N.D. missenseGArg [R]291
contig referenceAHis [H]291
44065259329 rs149756727 0.000byClusterbyFreq YesmissenseTTyr [Y]191
contig referenceCHis [H]191
44065261327 rs764804190 0.000byFreq missenseAGln [Q]290
missenseCPro [P]290
contig referenceGArg [R]290
44065266322 rs146272559 0.000byClusterbyFreq YessynonymousCAsn [N]388
contig referenceTAsn [N]388
44065267321 rs750820287 0.000 missenseGSer [S]288
contig referenceAAsn [N]288
44065271317 rs1129638 0.000 YesmissenseGVal [V]187
missenseTPhe [F]187
contig referenceCLeu [L]187
44065272316 rs1360482490 N.D. synonymousGArg [R]386
contig referenceCArg [R]386
44065273315 rs766643060 0.001byClusterbyFreq missenseAHis [H]286
contig referenceGArg [R]286
44065274314 rs371509257 0.000byClusterbyFreq YesmissenseTCys [C]186
contig referenceCArg [R]186
44065276312 rs1339835313 N.D. nonsenseA285
contig referenceGTrp [W]285
44065278310 rs755125202 0.000byFreq synonymousCThr [T]384
contig referenceTThr [T]384
44065279309 rs1279915046 N.D. missenseAAsn [N]284
missenseGSer [S]284
contig referenceCThr [T]284
44065281307 rs1339624147 N.D. synonymousTArg [R]383
contig referenceCArg [R]383
44065282306 rs139100874 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAHis [H]283
contig referenceGArg [R]283
44065283305 rs748139888 0.000 missenseTCys [C]183
contig referenceCArg [R]183
44065286302 rs528467394 0.000byClusterbyFreq missenseAMet [M]182
missenseTLeu [L]182
contig referenceGVal [V]182
44065289299 rs1225286412 N.D. missenseAMet [M]181
contig referenceGVal [V]181
44065293295 rs1270230936 N.D. synonymousALeu [L]379
synonymousCLeu [L]379
contig referenceGLeu [L]379
44065298290 rs1191913196 N.D. missenseCArg [R]178
contig referenceTTrp [W]178
44065301287 rs1375171028 N.D. missenseGVal [V]177
contig referenceAMet [M]177
44065304284 rs770583058 0.000 nonsenseT176
contig referenceCGln [Q]176
44065308280 rs778951143 0.000byFreq synonymousAThr [T]374
contig referenceGThr [T]374
44065309279 rs146457753 0.000byClusterbyFreqWith1000GenomeData0.0008 YesmissenseTMet [M]274
contig referenceCThr [T]274
44065312276 rs769481603 0.000 missenseTVal [V]273
contig referenceGGly [G]273
44065313275 rs148629845 0.000byCluster YesmissenseASer [S]173
missenseTCys [C]173
contig referenceGGly [G]173
44065314274 rs111656877 0.009byClusterbyFreqWith1000GenomeData0.0104 YessynonymousTAsp [D]372
contig referenceCAsp [D]372
44065316272 rs1434894812 N.D. missenseTTyr [Y]172
contig referenceGAsp [D]172
44065319269 rs768149477 0.000 synonymousTLeu [L]171
contig referenceCLeu [L]171
44065319269 rs1398115742 N.D. frame shift-Trp [W]171
contig referenceCLeu [L]171
44065322266 rs773539715 0.000 missenseTPhe [F]170
contig referenceAIle [I]170
44065326262 rs1243544360 N.D. nonsenseA368
contig referenceGTrp [W]368
44065327260 rs776037102 0.000 TCTPhe [F]167
44065328260 rs761128553 0.000 missenseCArg [R]168
contig referenceTTrp [W]168
44065329259 rs1246058614 N.D. synonymousTLeu [L]367
contig referenceCLeu [L]367
44065331257 rs766621999 0.000 missenseTPhe [F]167
contig referenceCLeu [L]167
44065334254 rs754137590 0.000 missenseGAla [A]166
contig referenceAThr [T]166
44065336252 rs200420235 0.000byClusterbyFreq YesmissenseAHis [H]265
contig referenceGArg [R]265
44065337251 rs765366480 0.000 missenseTCys [C]165
contig referenceCArg [R]165
44065338250 rs574780045 0.000With1000GenomeData0.0002 missenseGMet [M]364
contig referenceCIle [I]364
44065344244 rs1187365532 N.D. synonymousAArg [R]362
contig referenceGArg [R]362
44065345243 rs546821857 N.D.byCluster missenseAGln [Q]262
contig referenceGArg [R]262
44065346242 rs922606034 N.D. missenseTTrp [W]162
contig referenceCArg [R]162
44065347241 rs202091578 0.002byCluster YessynonymousALys [K]361
contig referenceGLys [K]361
44065348240 rs1379798319 N.D. missenseGArg [R]261
contig referenceALys [K]261
44065359229 rs1417733575 N.D. synonymousAThr [T]357
contig referenceGThr [T]357
44065360228 rs758416574 0.000 missenseTMet [M]257
contig referenceCThr [T]257
44065366222 rs777711300 0.000 missenseATyr [Y]255
contig referenceGCys [C]255
44065368220 rs923727940 N.D. synonymousAIle [I]354
contig referenceCIle [I]354
44065375213 rs929959611 N.D. missenseCSer [S]252
contig referenceTPhe [F]252
44065377211 rs751413141 0.000 synonymousAGlu [E]351
contig referenceGGlu [E]351
44065381207 rs757119245 0.000byFreq missenseCThr [T]250
contig referenceTMet [M]250
44065382206 rs151308911 0.000byClusterbyFreq YesmissenseCLeu [L]150
missenseTLeu [L]150
contig referenceAMet [M]150
44065387201 rs1308236739 N.D. missenseTVal [V]248
contig referenceCAla [A]248
44065390198 rs745594644 0.000 missenseTVal [V]247
contig referenceAAsp [D]247
44065392196 rs1223282826 N.D. synonymousALys [K]346
contig referenceGLys [K]346
44065394194 rs769568105 0.000byFreq missenseGGlu [E]146
contig referenceALys [K]146
44065402186 rs779792241 0.000byFreq missenseGArg [R]243
contig referenceALys [K]243
44065405183 rs1263012852 N.D. missenseTVal [V]242
contig referenceCAla [A]242
44065410178 rs1285727621 N.D. synonymousCArg [R]340
contig referenceGArg [R]340
44065411177 rs140545494 0.000byClusterbyFreq YesmissenseAGln [Q]240
missenseTLeu [L]240
contig referenceGArg [R]240
44065412176 rs369421780 0.000byClusterbyFreq YesmissenseTTrp [W]140
contig referenceCArg [R]140
44065415173 rs147126221 0.000byClusterbyFreq YesmissenseCGln [Q]139
contig referenceALys [K]139
44065423165 rs1055906559 N.D. missenseGGly [G]236
contig referenceAGlu [E]236
44065424164 rs1044665276 N.D. missenseALys [K]136
contig referenceGGlu [E]136
44065425163 rs147733064 0.000byCluster YessynonymousTThr [T]335
contig referenceCThr [T]335
44065426162 rs771384588 0.000 missenseTIle [I]235
contig referenceCThr [T]235
44065431157 rs1159613548 N.D. synonymousALys [K]333
contig referenceGLys [K]333
44065438150 rs373605759 0.000byClusterbyFreq YesmissenseAAsn [N]231
contig referenceGSer [S]231
44065439149 rs1437914746 N.D. missenseTCys [C]131
contig referenceASer [S]131
44065440148 rs759827542 0.000 synonymousALeu [L]330
synonymousCLeu [L]330
synonymousTLeu [L]330
contig referenceGLeu [L]330
44065442146 rs765460724 0.000 missenseGVal [V]130
contig referenceCLeu [L]130
44065447141 rs752868721 0.000 missenseGGly [G]228
contig referenceCAla [A]228
44065449139 rs1014467169 N.D. synonymousCAsp [D]327
contig referenceTAsp [D]327
44065451137 rs763053215 0.000byClusterbyFreq missenseAAsn [N]127
contig referenceGAsp [D]127
44065452136 rs764050202 0.000byFreq synonymousTPhe [F]326
contig referenceCPhe [F]326
44065454134 rs199510965 0.017byClusterbyFreq YesmissenseGVal [V]126
contig referenceTPhe [F]126
44065458130 rs757132071 0.000byFreq synonymousAGly [G]324
synonymousGGly [G]324
contig referenceCGly [G]324
44065464123 rs763369740 0.000 frame shiftTLeu [L]223
contig reference-Cys [C]223
44065467121 rs376649290 0.000byCluster YessynonymousCArg [R]321
contig referenceTArg [R]321
44065468120 rs1392611950 N.D. missenseAHis [H]221
contig referenceGArg [R]221
44065469119 rs755922249 0.000byFreq missenseTCys [C]121
contig referenceCArg [R]121
44065470117 rs1261500663 N.D. GAALys [K]219
44065471117 rs1336837510 N.D. missenseCThr [T]220
contig referenceAAsn [N]220
44065473115 rs1233199410 N.D. synonymousAGlu [E]319
contig referenceGGlu [E]319
44065479109 rs779880310 0.000 missenseALys [K]317
contig referenceCAsn [N]317
44065483105 rs748915387 0.000 nonsenseA216
contig referenceGTrp [W]216
44065485103 rs142350623 0.000byClusterbyFreq YessynonymousTThr [T]315
contig referenceAThr [T]315
44065486102 rs1326342444 N.D. missenseTIle [I]215
contig referenceCThr [T]215
44065487101 rs1221754731 N.D. missenseTSer [S]115
contig referenceAThr [T]115
44065488100 rs1412082658 N.D. missenseGArg [R]314
contig referenceCSer [S]314
4406549197 rs1257664501 N.D. missenseCAsp [D]313
contig referenceGGlu [E]313
4406549395 rs1026868358 N.D. missenseALys [K]113
contig referenceGGlu [E]113
4406549494 rs369660945 0.000byClusterbyFreq YessynonymousAGly [G]312
synonymousTGly [G]312
contig referenceCGly [G]312
4406549692 rs777139296 0.000byFreq missenseASer [S]112
contig referenceGGly [G]112
4406549791 rs759917797 0.000 synonymousTHis [H]311
contig referenceCHis [H]311
4406550088 rs1196680177 N.D. synonymousAArg [R]310
contig referenceGArg [R]310
4406550187 rs770104295 0.000byFreq missenseAGln [Q]210
missenseCPro [P]210
missenseTLeu [L]210
contig referenceGArg [R]210
4406550286 rs529371882 0.000byClusterbyFreq missenseTTrp [W]110
synonymousAArg [R]110
contig referenceCArg [R]110
4406550484 rs1169770796 N.D. missenseCAla [A]29
contig referenceTVal [V]29
4406550583 rs764295682 0.000 missenseCLeu [L]19
contig referenceGVal [V]19
4406551078 rs764567774 0.000byFreq frame shift-Gly [G]27
contig referenceTVal [V]27
4406551177 rs774293728 0.000 missenseAMet [M]17
missenseTLeu [L]17
contig referenceGVal [V]17
4406551276 rs143473990 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousGLeu [L]36
contig referenceCLeu [L]36
4406551375 rs1386647834 N.D. missenseCPro [P]26
contig referenceTLeu [L]26
4406551474 rs750344114 0.000byFreq missenseGVal [V]16
contig referenceCLeu [L]16
4406551573 rs1430361929 N.D. synonymousTArg [R]35
contig referenceCArg [R]35
4406551672 rs756010000 0.000 missenseAHis [H]25
contig referenceGArg [R]25
4406551771 rs374348751 0.000byClusterbyFreq YesmissenseGGly [G]15
missenseTCys [C]15
contig referenceCArg [R]15
4406551765 rs1183258366 N.D. frame shift-Ala [A]13
contig reference(7bp)Thr [T]13
4406551870 rs753602330 0.000 missenseAGln [Q]34
contig referenceCHis [H]34
4406552259 rs774862681 0.000byFreq frame shift-Ser [S]11
contig reference(8bp)Met [M]11
4406552662 rs1206914925 N.D. missenseAThr [T]12
contig referenceGAla [A]12
4406552761 rs1251900357 N.D. missenseAIle [I]31
contig referenceGMet [M]31
4406552860 rs745625274 N.D. missenseCThr [T]21
contig referenceTMet [M]21