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dbSNP

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SNP linked to Gene (geneID:2997) 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): 2
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_002103.4minus strandNP_002094.2reverseNT_011109.17GRCh38.p7<- currently shown
NM_001161587.1minus strandNP_001155059.1reverseNT_011109.17GRCh38.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_011109.17NM_002103.4NP_002094.2reverseminus strand794, 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
489692882455 rs1310157370 N.D. TTyr [Y]3738
contig referenceA3738
489692932450 rs1042146137 N.D. missenseTTyr [Y]1737
contig referenceAAsn [N]1737
489692952448 rs367919986 0.000byCluster missenseAHis [H]2736
contig referenceGArg [R]2736
489692962447 rs1369955206 N.D. missenseTCys [C]1736
contig referenceCArg [R]1736
489692992444 rs546920953 0.000byCluster missenseCGln [Q]1735
contig referenceGGlu [E]1735
489693022441 rs1338075033 N.D. nonsenseT1734
missenseALys [K]1734
contig referenceGGlu [E]1734
489693032440 rs1205603945 N.D. synonymousTGly [G]3733
contig referenceCGly [G]3733
489693072436 rs756641690 0.000byFreq missenseCPro [P]2732
contig referenceTLeu [L]2732
489693082435 rs1461026760 N.D. synonymousTLeu [L]1732
contig referenceCLeu [L]1732
489693102433 rs566743807 0.000With1000GenomeData0.0002 missenseTPhe [F]2731
contig referenceCSer [S]2731
489693112432 rs533966879 0.000With1000GenomeData0.0002 missenseAThr [T]1731
contig referenceTSer [S]1731
489693132430 rs1430040172 N.D. missenseCThr [T]2730
contig referenceGSer [S]2730
489693162427 rs1377812789 N.D. missenseGSer [S]2729
contig referenceCThr [T]2729
489693202423 rs935271060 N.D. missenseGAla [A]1728
contig referenceCPro [P]1728
489693212422 rs757649466 0.000 missenseGArg [R]3727
contig referenceCSer [S]3727
489693232420 rs1395080464 N.D. missenseGGly [G]1727
contig referenceASer [S]1727
489693282415 rs1464060300 N.D. missenseTLeu [L]2725
contig referenceCPro [P]2725
489693292414 rs1177953692 N.D. missenseTSer [S]1725
contig referenceCPro [P]1725
489693302413 rs1397818863 N.D. synonymousAGlu [E]3724
contig referenceGGlu [E]3724
489693322411 rs1053724936 N.D. missenseALys [K]1724
contig referenceGGlu [E]1724
489693332410 rs1406106140 N.D. missenseAArg [R]3723
synonymousTSer [S]3723
contig referenceCSer [S]3723
489693342409 rs1468841188 N.D. missenseAAsn [N]2723
contig referenceGSer [S]2723
489693352408 rs1414855597 N.D. missenseCArg [R]1723
contig referenceASer [S]1723
489693362407 rs982546947 N.D. synonymousAPro [P]3722
contig referenceGPro [P]3722
489693372406 rs558928850 0.000With1000GenomeData0.0004 missenseTLeu [L]2722
contig referenceCPro [P]2722
489693372406 rs757063983 0.000byFreq frame shift-Arg [R]2722
contig referenceCPro [P]2722
489693372405 rs1477406948 N.D. frame shift-Glu [E]1722
contig referenceCCPro [P]1722
489693392404 rs1363671615 N.D. synonymousTThr [T]3721
contig referenceCThr [T]3721
489693402403 rs1383109282 N.D. missenseTIle [I]2721
contig referenceCThr [T]2721
489693432400 rs1181030360 N.D. missenseCThr [T]2720
contig referenceGSer [S]2720
489693452398 rs1460833860 N.D. synonymousTLeu [L]3719
contig referenceCLeu [L]3719
489693562387 rs1456789682 N.D. missenseCPro [P]1716
contig referenceTSer [S]1716
489693632380 rs745510608 0.000 synonymousAThr [T]3713
synonymousCThr [T]3713
contig referenceGThr [T]3713
489693642379 rs771678316 0.000 missenseTMet [M]2713
contig referenceCThr [T]2713
489693662377 rs1225949065 N.D. synonymousTAsp [D]3712
contig referenceCAsp [D]3712
489693692374 rs779608375 0.000byFreq synonymousAVal [V]3711
contig referenceGVal [V]3711
489693702373 rs893694315 N.D. missenseAGlu [E]2711
contig referenceTVal [V]2711
489693712372 rs746502919 0.000 missenseTLeu [L]1711
contig referenceGVal [V]1711
489693762367 rs768653661 0.000 missenseCThr [T]2709
contig referenceAAsn [N]2709
489693782365 rs1262661557 N.D. synonymousGArg [R]3708
synonymousTArg [R]3708
contig referenceCArg [R]3708
489693792364 rs112195498 0.500 missenseAHis [H]2708
contig referenceGArg [R]2708
489693802363 rs776737199 0.000byFreq missenseGGly [G]1708
missenseTCys [C]1708
contig referenceCArg [R]1708
489693822361 rs1205499394 N.D. missenseCThr [T]2707
contig referenceALys [K]2707
489693862357 rs1042160 N.D. missenseCArg [R]1706
contig referenceASer [S]1706
489693872356 rs1218926139 N.D. synonymousTGly [G]3705
contig referenceCGly [G]3705
489693892354 rs1260849399 N.D. missenseASer [S]1705
contig referenceGGly [G]1705
489693902353 rs371968970 0.000byCluster synonymousTSer [S]3704
contig referenceCSer [S]3704
489693922351 rs1201413420 N.D. missenseGGly [G]1704
contig referenceASer [S]1704
489693932350 rs773193049 0.000 synonymousTThr [T]3703
contig referenceCThr [T]3703
489693942349 rs1479797470 N.D. missenseTIle [I]2703
contig referenceCThr [T]2703
489693972346 rs1375243403 N.D. missenseTPhe [F]2702
contig referenceCSer [S]2702
489693982345 rs1173408972 N.D. missenseCPro [P]1702
contig referenceTSer [S]1702
489694022341 rs1346568302 N.D. synonymousTThr [T]3700
contig referenceCThr [T]3700
489694032340 rs376847475 0.000byCluster missenseAAsn [N]2700
missenseTIle [I]2700
contig referenceCThr [T]2700
489694052338 rs1288637169 N.D. synonymousTCys [C]3699
contig referenceCCys [C]3699
489694062337 rs928549424 N.D. missenseATyr [Y]2699
contig referenceGCys [C]2699
489694102333 rs147627546 0.000byCluster missenseCPro [P]1698
contig referenceTSer [S]1698
489694112332 rs752755917 0.000 synonymousAAla [A]3697
contig referenceGAla [A]3697
489694132330 rs1284440482 N.D. missenseCPro [P]1697
contig referenceGAla [A]1697
489694152328 rs1345458151 N.D. missenseAGln [Q]2696
contig referenceGArg [R]2696
489694162327 rs1217526975 N.D. nonsenseT1696
contig referenceCArg [R]1696
489694182325 rs1309329456 N.D. missenseAHis [H]2695
contig referenceGArg [R]2695
489694192324 rs1317731883 N.D. missenseTCys [C]1695
contig referenceCArg [R]1695
489694202323 rs577126912 0.000With1000GenomeData0.0002 synonymousTPro [P]3694
contig referenceGPro [P]3694
489694272316 rs369846298 0.000byCluster missenseGGly [G]2692
contig referenceAGlu [E]2692
489694282315 rs1008639380 N.D. missenseALys [K]1692
contig referenceGGlu [E]1692
489694302313 rs1015032865 N.D. missenseAGln [Q]2691
contig referenceCPro [P]2691
489694312312 rs5453 0.005byCluster missenseGAla [A]1691
contig referenceCPro [P]1691
489694322311 rs1307896845 N.D. synonymousCAla [A]3690
contig referenceAAla [A]3690
489694362307 rs897471867 N.D. missenseAHis [H]2689
contig referenceGArg [R]2689
489694372306 rs994882983 N.D. missenseTCys [C]1689
contig referenceCArg [R]1689
489694422301 rs1224477083 N.D. missenseGSer [S]2687
contig referenceAAsn [N]2687
489694452298 rs1049444314 N.D. missenseAHis [H]2686
contig referenceGArg [R]2686
489694462297 rs1269492817 N.D. missenseTCys [C]1686
contig referenceCArg [R]1686
489694472296 rs1027914640 N.D. synonymousCArg [R]3685
contig referenceGArg [R]3685
489694482295 rs1490178936 N.D. missenseAGln [Q]2685
missenseCPro [P]2685
contig referenceGArg [R]2685
489694492294 rs1188943082 N.D. missenseTTrp [W]1685
synonymousAArg [R]1685
contig referenceCArg [R]1685
489694552288 rs141845425 0.000byClusterWith1000GenomeData0.0002 missenseGGlu [E]1683
contig referenceALys [K]1683
489694582285 rs1419163800 N.D. missenseAThr [T]1682
missenseTSer [S]1682
contig referenceGAla [A]1682
489694592284 rs142265031 0.003byClusterbyFreqWith1000GenomeData0.0002 synonymousAAla [A]3681
synonymousTAla [A]3681
contig referenceCAla [A]3681
489694622281 rs1378129506 N.D. missenseCAsp [D]3680
synonymousAGlu [E]3680
contig referenceGGlu [E]3680
489694632280 rs1426890839 N.D. missenseGGly [G]2680
contig referenceAGlu [E]2680
489694642279 rs754310863 0.000byFreq missenseALys [K]1680
contig referenceGGlu [E]1680
489694662275 rs1365472809 N.D. -3678
489694672276 rs574739791 0.000With1000GenomeData0.0002 missenseALys [K]1679
contig referenceGGlu [E]1679
489694682275 rs1306196339 N.D. missenseAGlu [E]3678
contig referenceCAsp [D]3678
489694742269 rs779233570 0.000 synonymousCAsp [D]3676
contig referenceTAsp [D]3676
489694762267 rs200945760 0.000byClusterWith1000GenomeData0.0002 missenseCHis [H]1676
contig referenceGAsp [D]1676
489694772266 rs757998556 0.000 synonymousTTyr [Y]3675
contig referenceCTyr [Y]3675
489694782265 rs1223324235 N.D. missenseGCys [C]2675
contig referenceATyr [Y]2675
489694792264 rs560658646 0.000With1000GenomeData0.0002 missenseCHis [H]1675
contig referenceTTyr [Y]1675
489694812262 rs779582211 0.000 missenseAHis [H]2674
missenseTLeu [L]2674
contig referenceGArg [R]2674
489694822261 rs902762860 N.D. missenseASer [S]1674
missenseTCys [C]1674
contig referenceCArg [R]1674
489694832260 rs1247864202 N.D. synonymousAGlu [E]3673
contig referenceGGlu [E]3673
489694842258 rs1000222027 N.D. CCGAla [A]1672
489694852258 rs1024472621 N.D. missenseALys [K]1673
contig referenceGGlu [E]1673
489694862257 rs1213596695 N.D. synonymousAGly [G]3672
synonymousTGly [G]3672
contig referenceCGly [G]3672
489694872256 rs1321032943 N.D. missenseAAsp [D]2672
contig referenceGGly [G]2672
489694882255 rs145448665 0.000byClusterWith1000GenomeData0.0004 missenseASer [S]1672
contig referenceGGly [G]1672
489694892254 rs5452 0.005byClusterbyFreqWith1000GenomeData0.0060 synonymousTAsp [D]3671
contig referenceCAsp [D]3671
489694902253 rs780892427 0.000byFreq missenseTVal [V]2671
contig referenceAAsp [D]2671
489694912252 rs1023710536 N.D. missenseAAsn [N]1671
contig referenceGAsp [D]1671
489694922251 rs970823032 N.D. missenseCAsp [D]3670
contig referenceAGlu [E]3670
489694932250 rs1416976109 N.D. missenseGGly [G]2670
contig referenceAGlu [E]2670
489694942249 rs1177489919 N.D. missenseALys [K]1670
contig referenceGGlu [E]1670
489694952248 rs1189683358 N.D. synonymousAGlu [E]3669
contig referenceGGlu [E]3669
489694972246 rs1235953671 N.D. missenseCGln [Q]1669
contig referenceGGlu [E]1669
489694982245 rs1446123698 N.D. synonymousALeu [L]3668
contig referenceGLeu [L]3668
489695002243 rs982130831 N.D. synonymousTLeu [L]1668
contig referenceCLeu [L]1668
489695012242 rs1164592345 N.D. synonymousAPro [P]3667
contig referenceGPro [P]3667
489695022241 rs748079298 0.000 missenseAGln [Q]2667
contig referenceCPro [P]2667
489695062237 rs1403961087 N.D. missenseCArg [R]1666
contig referenceGGly [G]1666
489695072236 rs201072036 0.000byClusterWith1000GenomeData0.0002 synonymousTAsn [N]3665
contig referenceCAsn [N]3665
489695082235 rs1474628234 N.D. missenseGSer [S]2665
contig referenceAAsn [N]2665
489695102233 rs746281906 N.D. synonymousAArg [R]3664
contig referenceGArg [R]3664
489695142229 rs1323387907 N.D. missenseTLeu [L]2663
contig referenceCPro [P]2663
489695172224 rs1441542274 N.D. -3661
489695192224 rs907899262 N.D. synonymousAGlu [E]3661
contig referenceGGlu [E]3661
489695212222 rs1385264036 N.D. missenseALys [K]1661
contig referenceGGlu [E]1661
489695222221 rs1453722411 N.D. synonymousAGlu [E]3660
contig referenceGGlu [E]3660
489695242219 rs1314644112 N.D. missenseALys [K]1660
contig referenceGGlu [E]1660
489695272216 rs1378085239 N.D. missenseAAsn [N]1659
missenseTTyr [Y]1659
contig referenceGAsp [D]1659
489695302213 rs1226426854 N.D. missenseALys [K]1658
contig referenceGGlu [E]1658
489695362207 rs1199839572 N.D. nonsenseT1656
contig referenceCGln [Q]1656
489695392204 rs1356215503 N.D. missenseTTyr [Y]1655
contig referenceCHis [H]1655
489695402203 rs1274965475 N.D. synonymousAPro [P]3654
synonymousTPro [P]3654
contig referenceGPro [P]3654
489695442199 rs1308055171 N.D. missenseAAsn [N]2653
missenseTIle [I]2653
contig referenceGSer [S]2653
489695482195 rs111534393 0.500 missenseCPro [P]1652
contig referenceTSer [S]1652
489695492194 rs1197422672 N.D. missenseGGln [Q]3651
contig referenceCHis [H]3651
489695532190 rs1279700149 N.D. missenseAGln [Q]2650
contig referenceGArg [R]2650
489695542189 rs924664321 N.D. missenseGGly [G]1650
contig referenceCArg [R]1650
489695552188 rs1255679698 N.D. synonymousCSer [S]3649
contig referenceASer [S]3649
489695582185 rs1383594333 N.D. synonymousALeu [L]3648
contig referenceGLeu [L]3648
489695612182 rs773057098 0.000 synonymousASer [S]3647
contig referenceGSer [S]3647
489695632180 rs962076440 N.D. missenseAThr [T]1647
contig referenceTSer [S]1647
489695642179 rs1236569890 N.D. synonymousGPro [P]3646
contig referenceCPro [P]3646
489695672176 rs1471987787 N.D. synonymousASer [S]3645
contig referenceGSer [S]3645
489695712172 rs1188711399 N.D. missenseAGln [Q]2644
missenseTLeu [L]2644
contig referenceCPro [P]2644
489695752168 rs1420812352 N.D. missenseTSer [S]1643
contig referenceCPro [P]1643
489695792164 rs1168612970 N.D. synonymousASer [S]3641
contig referenceGSer [S]3641
489695802163 rs137913986 0.000byCluster missenseTLeu [L]2641
contig referenceCSer [S]2641
489695832160 rs1470345016 N.D. missenseTVal [V]2640
contig referenceCAla [A]2640
489695842159 rs1336273298 N.D. missenseAThr [T]1640
contig referenceGAla [A]1640
489695872156 rs1357664377 N.D. missenseTSer [S]1639
contig referenceCPro [P]1639
489695882155 rs931119952 N.D. synonymousAArg [R]3638
contig referenceGArg [R]3638
489695892154 rs1356166458 N.D. missenseCPro [P]2638
contig referenceGArg [R]2638
489695902153 rs768327651 N.D. missenseTTrp [W]1638
contig referenceCArg [R]1638
489695982145 rs200113836 0.000byClusterWith1000GenomeData0.0002 missenseAHis [H]2635
missenseTLeu [L]2635
contig referenceGArg [R]2635
489695992144 rs373111758 0.000byCluster missenseASer [S]1635
missenseTCys [C]1635
contig referenceCArg [R]1635
489696042139 rs764135201 0.000 missenseAGlu [E]2633
contig referenceGGly [G]2633
489696052138 rs1276234046 N.D. missenseAArg [R]1633
contig referenceGGly [G]1633
489696082135 rs1325022727 N.D. nonsenseT1632
contig referenceCGln [Q]1632
489696102133 rs1203781149 N.D. missenseTVal [V]2631
contig referenceCAla [A]2631
489697752131 rs142457302 0.000byClusterbyFreq synonymousAAla [A]3630
contig referenceGAla [A]3630
489697772129 rs1367362043 N.D. missenseAThr [T]1630
contig referenceGAla [A]1630
489697792127 rs752196803 0.000 missenseCAla [A]2629
missenseGGly [G]2629
contig referenceAAsp [D]2629
489697822124 rs371546215 0.000byCluster missenseTVal [V]2628
contig referenceCAla [A]2628
489697862120 rs962330001 N.D. missenseALys [K]1627
missenseCGln [Q]1627
contig referenceGGlu [E]1627
489697872119 rs755709141 0.000byFreq missenseALys [K]3626
missenseGLys [K]3626
synonymousTAsn [N]3626
contig referenceCAsn [N]3626
489697872117 rs781319296 0.000 -1626
489697922114 rs1024503792 N.D. missenseAThr [T]1625
contig referenceCPro [P]1625
489697932113 rs1421512196 N.D. synonymousAGlu [E]3624
contig referenceGGlu [E]3624
489697952111 rs757274657 0.000byFreq missenseALys [K]1624
contig referenceGGlu [E]1624
489698022104 rs778567254 0.000 synonymousTPhe [F]3621
contig referenceCPhe [F]3621
489698052101 rs1294493377 N.D. missenseGGln [Q]3620
contig referenceCHis [H]3620
489698082098 rs745664866 0.000 synonymousAGlu [E]3619
contig referenceGGlu [E]3619
489698102096 rs5450 0.005byCluster YesmissenseCGln [Q]1619
contig referenceGGlu [E]1619
489698112095 rs1209706515 N.D. synonymousGPro [P]3618
contig referenceAPro [P]3618
489698122094 rs971609889 N.D. missenseTLeu [L]2618
contig referenceCPro [P]2618
489698132093 rs1265918894 N.D. missenseTSer [S]1618
contig referenceCPro [P]1618
489698172089 rs145789213 0.004byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTAla [A]3616
contig referenceCAla [A]3616
489698182088 rs776857328 0.000 missenseTVal [V]2616
contig referenceCAla [A]2616
489698212085 rs765500899 0.000byCluster missenseGArg [R]2615
contig referenceALys [K]2615
489698262080 rs1438135162 N.D. synonymousCLeu [L]3613
contig referenceGLeu [L]3613
489698292077 rs769733892 0.000byFreq synonymousAAla [A]3612
contig referenceGAla [A]3612
489698302076 rs773394859 0.000byFreq missenseAGlu [E]2612
contig referenceCAla [A]2612
489698312075 rs763358013 0.000 missenseCPro [P]1612
contig referenceGAla [A]1612
489698332073 rs1031761555 N.D. missenseGArg [R]2611
contig referenceTMet [M]2611
489698342072 rs138443659 0.000byCluster YesmissenseGVal [V]1611
contig referenceAMet [M]1611
489698352071 rs774790255 0.000 synonymousTHis [H]3610
contig referenceCHis [H]3610
489698382068 rs1411135010 N.D. synonymousAArg [R]3609
synonymousTArg [R]3609
contig referenceCArg [R]3609
489698392067 rs1331490118 N.D. missenseCPro [P]2609
contig referenceGArg [R]2609
489698402066 rs957644060 N.D. missenseASer [S]1609
missenseGGly [G]1609
missenseTCys [C]1609
contig referenceCArg [R]1609
489698412065 rs759994490 0.000byFreq synonymousCAla [A]3608
contig referenceGAla [A]3608
489698422064 rs767229493 0.000 missenseAGlu [E]2608
missenseGGly [G]2608
missenseTVal [V]2608
contig referenceCAla [A]2608
489698472059 rs1201986307 N.D. missenseTIle [I]3606
contig referenceGMet [M]3606
489698482058 rs752429696 0.000 missenseCThr [T]2606
contig referenceTMet [M]2606
489698512055 rs760423376 0.000 missenseGCys [C]2605
missenseTPhe [F]2605
contig referenceATyr [Y]2605
489698532053 rs763498836 0.000byFreq synonymousTTyr [Y]3604
contig referenceCTyr [Y]3604
489705472049 rs143040823 0.000byCluster YesmissenseCPro [P]2603
contig referenceGArg [R]2603
489705482048 rs1438432760 N.D. missenseTTrp [W]1603
contig referenceCArg [R]1603
489705492047 rs1329497264 N.D. synonymousGGly [G]3602
contig referenceCGly [G]3602
489705492046 rs1349127361 N.D. frame shiftGPro [P]2603
contig reference-Arg [R]2603
489705522044 rs758577682 0.000 synonymousGLeu [L]3601
contig referenceALeu [L]3601
489705682028 rs1329096624 N.D. frame shift-Arg [R]2596
contig referenceTLeu [L]2596
489705762020 rs372542706 0.000byCluster YessynonymousTSer [S]3593
contig referenceCSer [S]3593
489705772019 rs1284638458 N.D. missenseTPhe [F]2593
contig referenceCSer [S]2593
489705812015 rs1378334606 N.D. missenseTPhe [F]1592
contig referenceCLeu [L]1592
489705832013 rs747526091 0.000 missenseAHis [H]2591
contig referenceGArg [R]2591
489705842012 rs1280023779 N.D. missenseGGly [G]1591
contig referenceCArg [R]1591
489705932003 rs377063513 0.000byClusterbyFreq YesmissenseGGly [G]1588
contig referenceCArg [R]1588
489705981998 rs1454343943 N.D. missenseAGln [Q]2586
contig referenceGArg [R]2586
489706001996 rs781618580 0.000 missenseTHis [H]3585
contig referenceGGln [Q]3585
489706011995 rs748471233 0.000byFreq missenseGArg [R]2585
contig referenceAGln [Q]2585
489706061990 rs146698792 0.005byClusterbyFreqWith1000GenomeData0.0054 YessynonymousAIle [I]3583
synonymousTIle [I]3583
contig referenceCIle [I]3583
489706081988 rs748757141 0.000byFreq missenseGVal [V]1583
contig referenceAIle [I]1583
489706111985 rs770398662 0.000 missenseGGly [G]1582
contig referenceCArg [R]1582
489706151981 rs773784707 0.000byFreq synonymousAArg [R]3580
contig referenceGArg [R]3580
489706181978 rs1233761219 N.D. synonymousAArg [R]3579
contig referenceGArg [R]3579
489706191977 rs759512073 0.000 missenseCPro [P]2579
contig referenceGArg [R]2579
489706201976 rs1222664637 N.D. missenseGGly [G]1579
contig referenceCArg [R]1579
489706321963 rs749307856 0.000 frame shift-Leu [L]3574
contig referenceCTPhe [F]3574
489706371959 rs1207102551 N.D. missenseAAsn [N]2573
contig referenceGSer [S]2573
489706381958 rs771907219 0.000 missenseGGly [G]1573
contig referenceASer [S]1573
489706381957 rs1265658491 N.D. frame shift-3572
contig referenceCATyr [Y]3572
489706391957 rs1002459436 N.D. synonymousTTyr [Y]3572
contig referenceCTyr [Y]3572
489706391956 rs1477521930 N.D. frame shiftA2572
contig reference-Tyr [Y]2572
489706461949 rs1000551471 N.D.byCluster (12bp) [STAH]1569
489706471949 rs775296584 0.000 missenseCLeu [L]1570
contig referenceTPhe [F]1570
489706511945 rs760568725 0.000byFreq synonymousTThr [T]3568
contig referenceCThr [T]3568
489706511944 rs769155028 0.000 frame shiftACPro [P]2569
contig reference-Ser [S]2569
489706521944 rs765512016 0.000byFreq missenseAAsn [N]2568
missenseTIle [I]2568
contig referenceCThr [T]2568
489706561940 rs1431717856 N.D. missenseTPhe [F]1567
contig referenceCLeu [L]1567
489706611935 rs867792741 N.D. missenseTLeu [L]2565
contig referenceCSer [S]2565
489706731923 rs375027132 0.000byCluster YesmissenseGGly [G]2561
contig referenceAAsp [D]2561
489706771919 rs763313450 0.000 synonymousTLeu [L]1560
contig referenceCLeu [L]1560
489706781918 rs766465529 0.000 missenseGArg [R]3559
synonymousTSer [S]3559
contig referenceCSer [S]3559
489706791917 rs745662040 0.000 missenseAAsn [N]2559
contig referenceGSer [S]2559
489706821914 rs968964775 N.D. missenseTLeu [L]2558
contig referenceGArg [R]2558
489706831913 rs370992600 0.000byClusterbyFreq YesmissenseASer [S]1558
missenseTCys [C]1558
contig referenceCArg [R]1558
489706831911 rs774833368 0.000 -Cys [C]2557
489706861910 rs781568202 0.000byFreq missenseGVal [V]1557
contig referenceTPhe [F]1557
489706871909 rs1217452851 N.D. synonymousAArg [R]3556
contig referenceGArg [R]3556
489706881908 rs1275819458 N.D. missenseAGln [Q]2556
contig referenceGArg [R]2556
489706911905 rs753013962 0.000byFreq missenseCPro [P]2555
missenseTLeu [L]2555
contig referenceGArg [R]2555
489706921904 rs1219379538 N.D. missenseTTrp [W]1555
contig referenceCArg [R]1555
489707051891 rs1277512552 N.D. synonymousTIle [I]3550
contig referenceCIle [I]3550
489707061890 rs756503222 0.000 missenseCThr [T]2550
contig referenceTIle [I]2550
489709281886 rs764351612 0.000byFreq missenseASer [S]1549
missenseCArg [R]1549
contig referenceGGly [G]1549
489709291885 rs751603575 0.000 synonymousTTyr [Y]3548
contig referenceCTyr [Y]3548
489709341880 rs759561434 0.000byFreq missenseAThr [T]1547
contig referenceGAla [A]1547
489709391875 rs1314889558 N.D. missenseTLeu [L]2545
contig referenceCPro [P]2545
489709411873 rs1452203953 N.D. missenseGGlu [E]3544
contig referenceCAsp [D]3544
489709451869 rs1198310084 N.D. missenseTVal [V]2543
contig referenceCAla [A]2543
489709461868 rs1245171759 N.D. missenseTSer [S]1543
contig referenceGAla [A]1543
489709491865 rs768029465 0.000 missenseGVal [V]1542
contig referenceAIle [I]1542
489709521862 rs753171319 0.000 missenseGAsp [D]1541
contig referenceCHis [H]1541
489709571857 rs756664869 0.000 missenseCAla [A]2539
contig referenceAGlu [E]2539
489709581856 rs561646250 0.002byClusterbyFreqWith1000GenomeData0.0004 nonsenseT1539
missenseALys [K]1539
missenseCGln [Q]1539
contig referenceGGlu [E]1539
489709711843 rs778452686 0.000 synonymousTPhe [F]3534
contig referenceCPhe [F]3534
489709741840 rs745341722 0.000 synonymousTGly [G]3533
contig referenceCGly [G]3533
489709761838 rs1392851652 N.D. missenseTCys [C]1533
contig referenceGGly [G]1533
489709771837 rs757812011 0.000byFreq synonymousASer [S]3532
contig referenceCSer [S]3532
489709841830 rs374401394 0.000byClusterbyFreq YesmissenseGSer [S]2530
contig referenceAAsn [N]2530
489709861828 rs1181780987 N.D. synonymousTThr [T]3529
contig referenceCThr [T]3529
489709931821 rs746926842 0.000 missenseCThr [T]2527
contig referenceTIle [I]2527
489709971816 rs776183207 0.000 frame shiftCGln [Q]3526
contig reference-Ser [S]3526
489710011813 rs529330816 0.000With1000GenomeData0.0002 synonymousTIle [I]3524
contig referenceCIle [I]3524
489710111803 rs776504549 0.000 missenseCAla [A]2521
contig referenceTVal [V]2521
489710131801 rs993244714 N.D. synonymousTThr [T]3520
contig referenceGThr [T]3520
489710141800 rs747911098 0.000byFreq missenseTMet [M]2520
contig referenceCThr [T]2520
489710181796 rs771139571 0.000 missenseGGly [G]1519
contig referenceTCys [C]1519
489710221792 rs368021148 0.000byClusterbyFreq YessynonymousGAla [A]3517
contig referenceTAla [A]3517
489742131790 rs1233369798 N.D. missenseTSer [S]1517
contig referenceGAla [A]1517
489742141789 rs1460204907 N.D. synonymousAPro [P]3516
synonymousCPro [P]3516
contig referenceGPro [P]3516
489742151788 rs907999376 N.D. missenseTLeu [L]2516
contig referenceCPro [P]2516
489742171786 rs5448 0.008byClusterbyFreqWith1000GenomeData0.0076 YessynonymousGThr [T]3515
contig referenceAThr [T]3515
489742181785 rs1395831465 N.D. missenseALys [K]2515
contig referenceCThr [T]2515
489742281775 rs760764129 0.000 missenseCArg [R]1512
contig referenceTTrp [W]1512
489742291774 rs764544117 0.000byFreq synonymousCPro [P]3511
contig referenceTPro [P]3511
489742341769 rs1400682175 N.D. missenseALys [K]1510
contig referenceGGlu [E]1510
489742361767 rs763130874 0.000byFreq missenseGCys [C]2509
contig referenceATyr [Y]2509
489742381765 rs1329929211 N.D. synonymousTTyr [Y]3508
contig referenceCTyr [Y]3508
489742441759 rs920576632 N.D. synonymousTPro [P]3506
contig referenceCPro [P]3506
489742461757 rs1305847758 N.D. missenseTSer [S]1506
contig referenceCPro [P]1506
489742501753 rs201028159 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTVal [V]3504
contig referenceCVal [V]3504
489742521751 rs1055064831 N.D. missenseAIle [I]1504
contig referenceGVal [V]1504
489742531750 rs765501254 0.000 synonymousGGly [G]3503
contig referenceAGly [G]3503
489742571746 rs750864391 0.000 missenseGArg [R]2502
contig referenceTLeu [L]2502
489742581745 rs1199715865 N.D. missenseTPhe [F]1502
contig referenceCLeu [L]1502
489742601743 rs1255282186 N.D. missenseGArg [R]2501
contig referenceAHis [H]2501
489742661737 rs1437072901 N.D. missenseTVal [V]2499
contig referenceGGly [G]2499
489742691734 rs757918424 0.000 missenseAHis [H]2498
contig referenceGArg [R]2498
489742701733 rs766146709 0.000byClusterbyFreq missenseTCys [C]1498
contig referenceCArg [R]1498
489742771726 rs1261764650 N.D. synonymousAGlu [E]3495
contig referenceGGlu [E]3495
489742871716 rs949286022 N.D. missenseTVal [V]2492
contig referenceAAsp [D]2492
489742971706 rs1426249714 N.D. missenseTPhe [F]1489
contig referenceCLeu [L]1489
489742981705 rs751068104 0.000 synonymousALeu [L]3488
contig referenceGLeu [L]3488
489742991703 rs1197385442 N.D. frame shiftCPro [P]1488
contig reference-Leu [L]1488
489743021701 rs1479401196 N.D. missenseAHis [H]2487
contig referenceCPro [P]2487
489743081693 rs764928908 0.000 -3485
489743141689 rs1465828184 N.D. missenseTPhe [F]2483
contig referenceCSer [S]2483
489743161687 rs754571546 0.000 synonymousTLeu [L]3482
contig referenceCLeu [L]3482
489743191684 rs780892563 0.000 synonymousTPhe [F]3481
contig referenceCPhe [F]3481
489743251678 rs752556651 0.000byFreq synonymousAPro [P]3479
contig referenceGPro [P]3479
489743261677 rs144681053 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTLeu [L]2479
contig referenceCPro [P]2479
489743281675 rs777428638 0.000 synonymousTHis [H]3478
contig referenceCHis [H]3478
489743321671 rs1248159799 N.D. frame shift-Ser [S]2477
contig referenceTPhe [F]2477
489743391664 rs749115282 0.000 missenseCLeu [L]1475
contig referenceGVal [V]1475
489746201663 rs753535885 0.000 synonymousALys [K]3474
contig referenceGLys [K]3474
489746251658 rs937367257 N.D. missenseTLeu [L]1473
contig referenceGVal [V]1473
489746261657 rs138480890 0.000byClusterbyFreqWith1000GenomeData0.0006 YessynonymousAArg [R]3472
contig referenceGArg [R]3472
489746271656 rs1170196167 N.D. missenseALys [K]2472
contig referenceGArg [R]2472
489746291654 rs1445743839 N.D. missenseGGlu [E]3471
contig referenceCAsp [D]3471
489746301653 rs1306162963 N.D. missenseGGly [G]2471
contig referenceAAsp [D]2471
489746321651 rs778728429 0.000byFreq synonymousGAla [A]3470
synonymousTAla [A]3470
contig referenceCAla [A]3470
489746341649 rs768930176 0.000 missenseAThr [T]1470
missenseCPro [P]1470
contig referenceGAla [A]1470
489746351648 rs556352989 0.000byFreqWith1000GenomeData0.0002 missenseAArg [R]3469
contig referenceTSer [S]3469
489746411642 rs574896397 0.000byFreqWith1000GenomeData0.0002 synonymousCAsn [N]3467
contig referenceTAsn [N]3467
489746421641 rs1211390269 N.D. missenseGSer [S]2467
contig referenceAAsn [N]2467
489746451638 rs1305726002 N.D. missenseCSer [S]2466
contig referenceTPhe [F]2466
489746521631 rs200862074 0.000byClusterbyFreq YesmissenseASer [S]1464
contig referenceGGly [G]1464
489746531630 rs767926559 0.000 synonymousTIle [I]3463
contig referenceCIle [I]3463
489746551628 rs763599409 0.000 missenseGVal [V]1463
contig referenceAIle [I]1463
489746561627 rs771403714 0.000 synonymousGArg [R]3462
contig referenceAArg [R]3462
489746571626 rs774914573 0.000byFreq missenseAGln [Q]2462
contig referenceGArg [R]2462
489746611622 rs1367900815 N.D. missenseTCys [C]1461
contig referenceCArg [R]1461
489746641619 rs748511018 N.D.byCluster missenseGVal [V]1460
contig referenceAIle [I]1460
489746661617 rs1333590725 N.D. missenseAAsn [N]2459
missenseTIle [I]2459
contig referenceCThr [T]2459
489746801603 rs1414818913 N.D. synonymousTAsp [D]3454
contig referenceCAsp [D]3454
489746811602 rs1332971609 N.D. missenseTVal [V]2454
contig referenceAAsp [D]2454
489746921591 rs1401351275 N.D. missenseAGlu [E]3450
contig referenceTAsp [D]3450
489746951588 rs767205165 0.000 synonymousALeu [L]3449
contig referenceGLeu [L]3449
489746991584 rs752091124 0.000 missenseCThr [T]2448
contig referenceTMet [M]2448
489747041579 rs139974904 0.001byClusterbyFreq YessynonymousTHis [H]3446
contig referenceCHis [H]3446
489747061577 rs763550291 0.000 missenseTTyr [Y]1446
contig referenceCHis [H]1446
489747071576 rs753790981 0.000 synonymousTThr [T]3445
contig referenceCThr [T]3445
489747101573 rs377125421 0.000byClusterbyFreq YessynonymousTCys [C]3444
contig referenceCCys [C]3444
489747161566 rs757981082 0.000byFreq frame shiftCCys [C]2443
frame shiftCTLeu [L]2443
contig reference-Val [V]2443
489747161567 rs1404367129 N.D. frame shift-Cys [C]3443
contig referenceTVal [V]3443
489747161566 rs1491275132 N.D. frame shift-Arg [R]2442
contig referenceCTPro [P]2442
489747171566 rs751494565 0.000byFreq frame shift-Leu [L]2442
contig referenceCPro [P]2442
489747181565 rs142951866 0.001byClusterbyFreqWith1000GenomeData0.0010 YesmissenseAThr [T]1442
missenseGAla [A]1442
missenseTSer [S]1442
contig referenceCPro [P]1442
489747191564 rs781496101 0.000 synonymousTPro [P]3441
contig referenceCPro [P]3441
489747201563 rs1457990344 N.D. missenseTLeu [L]2441
contig referenceCPro [P]2441
489747211562 rs748140171 0.000 missenseTSer [S]1441
contig referenceCPro [P]1441
489747241559 rs756191455 0.000byFreq missenseCLeu [L]1440
contig referenceTPhe [F]1440
489747261557 rs935135147 N.D. missenseATyr [Y]2439
contig referenceCSer [S]2439
489747271556 rs1053474250 N.D. missenseAThr [T]1439
contig referenceTSer [S]1439
489747321551 rs777768883 0.000 missenseAGln [Q]2437
contig referenceGArg [R]2437
489747331550 rs369143238 0.000byClusterbyFreq YesmissenseTTrp [W]1437
synonymousAArg [R]1437
contig referenceCArg [R]1437
489779251548 rs1167128419 N.D. missenseGArg [R]2436
contig referenceAGln [Q]2436
489779271546 rs147610727 0.000byClusterbyFreq YessynonymousAThr [T]3435
contig referenceGThr [T]3435
489779281545 rs772459742 0.000byFreq missenseTMet [M]2435
contig referenceCThr [T]2435
489779291544 rs775775270 0.000 missenseGAla [A]1435
contig referenceAThr [T]1435
489779361537 rs1299969441 N.D. synonymousAIle [I]3432
contig referenceCIle [I]3432
489779371536 rs1340555731 N.D. missenseAAsn [N]2432
contig referenceTIle [I]2432
489779441529 rs1429444927 N.D. synonymousCArg [R]1430
contig referenceAArg [R]1430
489779451528 rs374232414 0.000byCluster YessynonymousALys [K]3429
contig referenceGLys [K]3429
489779531520 rs746669628 0.000byFreq missenseGVal [V]1427
contig referenceAMet [M]1427
489779561517 rs768193663 0.000 missenseGAla [A]1426
contig referenceAThr [T]1426
489779571516 rs1242851953 N.D. synonymousTPhe [F]3425
contig referenceCPhe [F]3425
489779601513 rs1279986067 N.D. synonymousTAsp [D]3424
contig referenceCAsp [D]3424
489779611512 rs1195642081 N.D. missenseGGly [G]2424
contig referenceAAsp [D]2424
489779631510 rs1346169044 N.D. synonymousGGlu [E]3423
contig referenceAGlu [E]3423
489779711502 rs763908374 N.D. missenseCHis [H]1421
contig referenceGAsp [D]1421
489779721501 rs776058209 0.000 synonymousALeu [L]3420
contig referenceGLeu [L]3420
489779741499 rs761332247 0.000 synonymousTLeu [L]1420
contig referenceCLeu [L]1420
489779761497 rs1208002277 N.D. missenseCThr [T]2419
contig referenceTMet [M]2419
489779771496 rs1213787864 N.D. missenseGVal [V]1419
contig referenceAMet [M]1419
489779811492 rs765117234 0.000 missenseGLys [K]3417
contig referenceCAsn [N]3417
489779821491 rs773104883 0.000 missenseGSer [S]2417
contig referenceAAsn [N]2417
489779831490 rs1193262301 N.D. missenseGAsp [D]1417
missenseTTyr [Y]1417
contig referenceAAsn [N]1417
489779861487 rs5447 0.037byClusterbyFreqWith1000GenomeData0.0331 YesmissenseGVal [V]1416
contig referenceAMet [M]1416
489779891484 rs573897595 0.000byFreqWith1000GenomeData0.0002 missenseAAsn [N]1415
contig referenceGAsp [D]1415
489779901483 rs751382433 0.000byFreq synonymousGPro [P]3414
synonymousTPro [P]3414
contig referenceCPro [P]3414
489779941479 rs764425942 0.000 missenseGArg [R]2413
contig referenceTLeu [L]2413
489779961477 rs753922665 0.000byFreq missenseGArg [R]3412
synonymousTSer [S]3412
contig referenceCSer [S]3412
489780021471 rs975175873 N.D. synonymousCVal [V]3410
contig referenceTVal [V]3410
489780991469 rs1437048615 N.D. missenseAIle [I]1410
contig referenceGVal [V]1410
489781021466 rs1179508533 N.D. synonymousTLeu [L]1409
contig referenceCLeu [L]1409
489781231445 rs758882471 0.000 missenseGGly [G]1402
contig referenceAArg [R]1402
489781251443 rs1056476850 N.D. missenseAGlu [E]2401
contig referenceGGly [G]2401
489781261442 rs780447178 0.000byFreq missenseAArg [R]1401
contig referenceGGly [G]1401
489781271441 rs146814405 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseALeu [L]3400
synonymousTPhe [F]3400
contig referenceCPhe [F]3400
489781311437 rs781588172 0.000byFreq missenseCThr [T]2399
missenseGArg [R]2399
contig referenceALys [K]2399
489781331435 rs375010111 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousGGlu [E]3398
contig referenceAGlu [E]3398
489781351433 rs1396183130 N.D. missenseALys [K]1398
contig referenceGGlu [E]1398
489781421426 rs777198699 0.000 synonymousAThr [T]3395
synonymousTThr [T]3395
contig referenceGThr [T]3395
489781431425 rs748765779 0.000 missenseTMet [M]2395
contig referenceCThr [T]2395
489781461422 rs770855530 0.000 missenseCThr [T]2394
contig referenceAAsn [N]2394
489781471421 rs944581269 N.D. missenseGAsp [D]1394
contig referenceAAsn [N]1394
489781501418 rs1234293707 N.D. missenseAThr [T]1393
contig referenceGAla [A]1393
489781511417 rs151212573 0.000byClusterbyFreq YessynonymousAThr [T]3392
synonymousTThr [T]3392
contig referenceGThr [T]3392
489781561412 rs1320095254 N.D. missenseAAsn [N]1391
contig referenceGAsp [D]1391
489815321407 rs1283305130 N.D. frame shiftCLeu [L]2390
contig reference-Trp [W]2390
489815351405 rs901649464 N.D. synonymousAGln [Q]3388
contig referenceGGln [Q]3388
489815381402 rs746822393 0.000byFreq synonymousGLys [K]3387
contig referenceALys [K]3387
489815421398 rs566356663 0.000byFreqWith1000GenomeData0.0002 missenseAHis [H]2386
contig referenceGArg [R]2386
489815431397 rs868354195 N.D.byCluster missenseTCys [C]1386
contig referenceCArg [R]1386
489815441396 rs1462804703 N.D. synonymousAVal [V]3385
contig referenceGVal [V]3385
489815461394 rs773273879 0.000 missenseCLeu [L]1385
contig referenceGVal [V]1385
489815551385 rs1172290122 N.D. missenseASer [S]1382
missenseTCys [C]1382
contig referenceGGly [G]1382
489815571383 rs1363049243 N.D. missenseCThr [T]2381
contig referenceALys [K]2381
489815681372 rs1454369197 N.D. synonymousAVal [V]3377
contig referenceGVal [V]3377
489815701370 rs1288422857 N.D. missenseAMet [M]1377
contig referenceGVal [V]1377
489815711369 rs763282805 0.000byFreq synonymousTAsn [N]3376
contig referenceCAsn [N]3376
489815741366 rs766357976 0.000 missenseALeu [L]3375
contig referenceCPhe [F]3375
489815771363 rs1300778334 N.D. synonymousCAsn [N]3374
contig referenceTAsn [N]3374
489815781362 rs200672892 0.000byClusterbyFreq YesmissenseCThr [T]2374
missenseGSer [S]2374
contig referenceAAsn [N]2374
489815841356 rs556972453 N.D. missenseTIle [I]2372
contig referenceCThr [T]2372
489815871353 rs369847599 0.000byClusterbyFreq YesmissenseAGln [Q]2371
contig referenceGArg [R]2371
489815881352 rs933420343 N.D. missenseTTrp [W]1371
contig referenceCArg [R]1371
489815891351 rs200386346 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAAla [A]3370
contig referenceGAla [A]3370
489815901350 rs887452430 N.D. missenseTVal [V]2370
contig referenceCAla [A]2370
489815941346 rs753015704 0.000 missenseGAla [A]1369
contig referenceCPro [P]1369
489815961344 rs1318734753 N.D. missenseCThr [T]2368
contig referenceTMet [M]2368
489815971343 rs1239694022 N.D. missenseCLeu [L]1368
missenseGVal [V]1368
contig referenceAMet [M]1368
489816011337 rs780183437 0.000 -1366
489816031337 rs140397352 0.000byCluster YesmissenseCLeu [L]1366
contig referenceTPhe [F]1366
489816071333 rs1234742185 N.D. synonymousTAla [A]3364
contig referenceCAla [A]3364
489816121328 rs1309992388 N.D. missenseTPhe [F]1363
contig referenceGVal [V]1363
489816131327 rs756505473 0.000 synonymousCVal [V]3362
contig referenceGVal [V]3362
489816151325 rs1009418130 N.D. missenseAMet [M]1362
contig referenceGVal [V]1362
489816161324 rs149865396 0.000byClusterbyFreq YessynonymousGThr [T]3361
contig referenceAThr [T]3361
489816201320 rs759812102 0.000byFreq missenseTLeu [L]2360
contig referenceAGln [Q]2360
489816211319 rs1003071543 N.D. missenseALys [K]1360
contig referenceCGln [Q]1360
489816221318 rs756998086 0.000 synonymousAGlu [E]3359
contig referenceGGlu [E]3359
489816231317 rs5465 N.D.byCluster YesmissenseGGly [G]2359
contig referenceAGlu [E]2359
489816241316 rs778215783 0.000byFreq missenseALys [K]1359
missenseCGln [Q]1359
contig referenceGGlu [E]1359
489816251315 rs745380821 0.000byFreq synonymousTSer [S]3358
contig referenceCSer [S]3358
489816271313 rs758361473 0.000byFreq missenseGGly [G]1358
contig referenceASer [S]1358
489816281312 rs1464595991 N.D. synonymousTGly [G]3357
contig referenceCGly [G]3357
489816291311 rs956208305 N.D. missenseAAsp [D]2357
contig referenceGGly [G]2357
489816301310 rs146437672 0.000byClusterbyFreq YesmissenseASer [S]1357
missenseCArg [R]1357
contig referenceGGly [G]1357
489816311309 rs746981890 0.000byFreq synonymousTAsn [N]3356
contig referenceCAsn [N]3356
489822601298 rs761016746 0.000 missenseGVal [V]1353
missenseTPhe [F]1353
contig referenceCLeu [L]1353
489822611297 rs1474278255 N.D. synonymousCLeu [L]3352
contig referenceGLeu [L]3352
489822651293 rs769215150 0.000byFreq missenseGCys [C]2351
contig referenceATyr [Y]2351
489822681290 rs776808234 0.000byFreq missenseGSer [S]2350
contig referenceAAsn [N]2350
489822711287 rs1323347425 N.D. missenseCPro [P]2349
contig referenceTLeu [L]2349
489822741284 rs767829857 0.000byFreq missenseAGln [Q]2348
contig referenceGArg [R]2348
489822751283 rs765560231 0.000byFreq synonymousAArg [R]1348
contig referenceCArg [R]1348
489822771281 rs750076582 0.000 missenseTVal [V]2347
contig referenceCAla [A]2347
489822781280 rs1318177502 N.D. missenseAThr [T]1347
contig referenceGAla [A]1347
489822871271 rs1291602513 N.D. missenseALys [K]1344
contig referenceGGlu [E]1344
489822891269 rs1279481275 N.D. missenseCPro [P]2343
contig referenceTLeu [L]2343
489822901268 rs762749952 0.000 missenseGVal [V]1343
contig referenceCLeu [L]1343
489822911267 rs5464 0.394byClusterbyFreqWith1000GenomeData0.2546 YessynonymousTPhe [F]3342
contig referenceCPhe [F]3342
489822941264 rs1374274905 N.D. synonymousTVal [V]3341
contig referenceCVal [V]3341
489822951263 rs1412438702 N.D. missenseCAla [A]2341
contig referenceTVal [V]2341
489822961262 rs751121252 0.000 missenseAIle [I]1341
contig referenceGVal [V]1341
489822971261 rs13306415 0.001byClusterbyFreq YesmissenseAGlu [E]3340
synonymousTAsp [D]3340
contig referenceCAsp [D]3340
489822991259 rs773246468 N.D. missenseAAsn [N]1340
contig referenceGAsp [D]1340
489823051253 rs1214342035 N.D. missenseCArg [R]1338
contig referenceGGly [G]1338
489823101248 rs760811109 N.D. missenseGSer [S]2336
contig referenceAAsn [N]2336
489823141244 rs1348570336 N.D. missenseCPro [P]1335
contig referenceTSer [S]1335
489823151243 rs752397642 0.000 synonymousTPhe [F]3334
contig referenceCPhe [F]3334
489823181240 rs755911087 0.000 missenseTAsp [D]3333
synonymousAGlu [E]3333
contig referenceGGlu [E]3333
489823251233 rs1280294667 N.D. missenseTLeu [L]2331
contig referenceGArg [R]2331
489823261232 rs777596759 0.000 missenseTCys [C]1331
contig referenceCArg [R]1331
489823271231 rs746080768 0.000byFreq synonymousTGly [G]3330
contig referenceCGly [G]3330
489823291229 rs772283044 0.000byFreq missenseASer [S]1330
contig referenceGGly [G]1330
489823301228 rs180906371 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTAla [A]3329
contig referenceCAla [A]3329
489823321226 rs747130196 0.000byFreq missenseAThr [T]1329
contig referenceGAla [A]1329
489823331225 rs769000809 0.000byFreq synonymousTIle [I]3328
contig referenceCIle [I]3328
489823361222 rs777163673 0.000 synonymousCPhe [F]3327
contig referenceTPhe [F]3327
489823471211 rs1428048247 N.D. missenseGVal [V]1324
contig referenceTLeu [L]1324
489823541204 rs1260946510 N.D. synonymousTAsp [D]3321
contig referenceCAsp [D]3321
489823591199 rs748651421 0.000 synonymousCLeu [L]1320
contig referenceTLeu [L]1320
489823601198 rs1489427696 N.D. synonymousTAsn [N]3319
contig referenceCAsn [N]3319
489823661192 rs770267328 0.000 synonymousTAsp [D]3317
contig referenceCAsp [D]3317
489823731185 rs1432327187 N.D. missenseGArg [R]2315
contig referenceAHis [H]2315
489823751183 rs369803997 0.000byClusterbyFreq YessynonymousAGly [G]3314
contig referenceGGly [G]3314
489827231179 rs200544361 0.000byClusterbyFreq YesmissenseGCys [C]2313
contig referenceATyr [Y]2313
489827351167 rs1183870445 N.D. missenseAGln [Q]2309
contig referenceGArg [R]2309
489827361166 rs751793292 0.000byCluster missenseTTrp [W]1309
contig referenceCArg [R]1309
489827371165 rs755220206 0.000 synonymousAVal [V]3308
contig referenceGVal [V]3308
489827391163 rs1179458628 N.D. missenseAMet [M]1308
contig referenceGVal [V]1308
489827411161 rs1419405969 N.D. missenseGCys [C]2307
contig referenceTPhe [F]2307
489827451157 rs781265649 0.000 missenseALys [K]1306
contig referenceGGlu [E]1306
489827461156 rs1461576674 N.D. synonymousAGln [Q]3305
contig referenceGGln [Q]3305
489827491153 rs748191529 0.000 synonymousTIle [I]3304
contig referenceCIle [I]3304
489827511151 rs960105929 N.D. missenseGVal [V]1304
contig referenceAIle [I]1304
489827531149 rs756642679 0.000byFreq missenseAGln [Q]2303
contig referenceGArg [R]2303
489827541148 rs1269675538 N.D. nonsenseT1303
contig referenceCArg [R]1303
489827551147 rs1412046514 N.D. synonymousCAla [A]3302
contig referenceTAla [A]3302
489827561146 rs1020447544 N.D. missenseTVal [V]2302
contig referenceCAla [A]2302
489827571145 rs1330106941 N.D. missenseCPro [P]1302
contig referenceGAla [A]1302
489827641138 rs778455846 0.000 synonymousAGln [Q]3299
contig referenceGGln [Q]3299
489827691133 rs749853175 0.000byFreq missenseAThr [T]1298
contig referenceGAla [A]1298
489827701132 rs771403634 0.000 synonymousCHis [H]3297
contig referenceTHis [H]3297
489827881114 rs1356185309 N.D. missenseGGln [Q]3291
contig referenceTHis [H]3291
489827891113 rs967075263 N.D. missenseGArg [R]2291
contig referenceAHis [H]2291
489827921110 rs1232862949 N.D. missenseCThr [T]2290
contig referenceTMet [M]2290
489827931109 rs574077209 0.000With1000GenomeData0.0002 missenseGVal [V]1290
contig referenceAMet [M]1290
489827951107 rs745533019 0.000byFreq missenseGGly [G]2289
contig referenceCAla [A]2289
489828031097 rs760885403 0.000byFreq -1286
489828071095 rs1273610457 N.D. missenseGArg [R]2285
contig referenceALys [K]2285
489828081094 rs1437100484 N.D. nonsenseT1285
contig referenceALys [K]1285
489828131089 rs5461 N.D.byCluster YesmissenseGSer [S]2283
contig referenceAAsn [N]2283
489828171085 rs1331630715 N.D. synonymousTLeu [L]1282
contig referenceCLeu [L]1282
489828211081 rs1024284799 N.D. synonymousCAsn [N]3280
contig referenceTAsn [N]3280
489828221080 rs771631374 0.000byFreq missenseGSer [S]2280
contig referenceAAsn [N]2280
489828251077 rs775013608 0.000 missenseTLeu [L]2279
contig referenceCPro [P]2279
489828261076 rs577134781 N.D. missenseGAla [A]1279
contig referenceCPro [P]1279
489828291073 rs1327619621 N.D. missenseGAla [A]1278
contig referenceAThr [T]1278
489828351067 rs760205860 0.000 missenseGVal [V]1276
contig referenceAIle [I]1276
489854641061 rs986691237 N.D. missenseGAla [A]1274
contig referenceCPro [P]1274
489854681057 rs746709194 0.000byFreq synonymousAArg [R]3272
contig referenceGArg [R]3272
489854701055 rs768140826 0.000 synonymousCArg [R]1272
contig referenceAArg [R]1272
489854761049 rs776190194 0.000 missenseTPhe [F]1270
contig referenceCLeu [L]1270
489854801045 rs761669741 0.000byFreq synonymousTHis [H]3268
contig referenceCHis [H]3268
489854811044 rs769630976 0.000byFreq missenseTLeu [L]2268
contig referenceAHis [H]2268
489854871038 rs1253678206 N.D. missenseTVal [V]2266
contig referenceCAla [A]2266
489854881037 rs1486581283 N.D. missenseTSer [S]1266
contig referenceGAla [A]1266
489854911034 rs138606563 0.000byClusterbyFreq YesmissenseALys [K]1265
contig referenceGGlu [E]1265
489854951030 rs1309002901 N.D. synonymousTAla [A]3263
contig referenceCAla [A]3263
489854961029 rs762689982 0.000 missenseTVal [V]2263
contig referenceCAla [A]2263
489854971028 rs372637032 0.000byCluster YesmissenseAThr [T]1263
contig referenceGAla [A]1263
489854981027 rs752946661 0.000byFreq synonymousTThr [T]3262
contig referenceCThr [T]3262
489855001025 rs761039612 0.000byFreq missenseGAla [A]1262
contig referenceAThr [T]1262
489855031022 rs764270310 0.000byFreq missenseTPhe [F]1261
contig referenceAIle [I]1261
489855051020 rs1174610609 N.D. missenseGArg [R]2260
contig referenceAGln [Q]2260
489855131012 rs753974402 0.000 synonymousCThr [T]3257
contig referenceTThr [T]3257
489855241001 rs757728625 0.000 missenseAIle [I]1254
contig referenceGVal [V]1254
489855251000 rs149182914 0.000byClusterbyFreq YessynonymousTHis [H]3253
contig referenceCHis [H]3253
48985528997 rs750976567 0.000 synonymousCAla [A]3252
contig referenceTAla [A]3252
48985530995 rs376523274 N.D.byCluster YesmissenseAThr [T]1252
contig referenceGAla [A]1252
48985531994 rs758664367 0.000byFreq synonymousTCys [C]3251
contig referenceCCys [C]3251
48985534991 rs780454237 0.000 missenseGGln [Q]3250
synonymousTHis [H]3250
contig referenceCHis [H]3250
48985536989 rs746659918 0.000byFreq missenseGAsp [D]1250
missenseTTyr [Y]1250
contig referenceCHis [H]1250
48985537988 rs1386108189 N.D. synonymousTAla [A]3249
contig referenceCAla [A]3249
48985543982 rs3745692 0.000byClusterbyFreq YessynonymousAAla [A]3247
synonymousTAla [A]3247
contig referenceGAla [A]3247
48985544981 rs1318179540 N.D. missenseTVal [V]2247
contig referenceCAla [A]2247
48985554971 rs747681747 0.000 missenseGVal [V]1244
contig referenceAMet [M]1244
48985558967 rs1267080951 N.D. nonsenseA3242
contig referenceCTyr [Y]3242
48985562963 rs192597341 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2241
missenseTLeu [L]2241
contig referenceGArg [R]2241
48985563962 rs772991517 0.000 nonsenseT1241
contig referenceCArg [R]1241
48985564961 rs1295267134 N.D. synonymousTHis [H]3240
contig referenceCHis [H]3240
48985566959 rs749298698 0.000 missenseGAsp [D]1240
contig referenceCHis [H]1240
48985584940 rs1345327745 N.D. frame shift-Ala [A]3236
contig referenceAGArg [R]3236
48985591934 rs5460 0.009byClusterbyFreqWith1000GenomeData0.0160 YessynonymousALys [K]3231
synonymousALys [K]3231
synonymousALys [K]3231
contig referenceGLys [K]3231
contig referenceGLys [K]3231
contig referenceGLys [K]3231
48985592933 rs774356926 0.000 missenseGArg [R]2231
contig referenceALys [K]2231
48985593932 rs760918207 0.000 missenseGGlu [E]1231
contig referenceALys [K]1231
48985599926 rs764428083 0.000 missenseAMet [M]1229
contig referenceGVal [V]1229
48985600925 rs202167827 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTAsn [N]3228
contig referenceCAsn [N]3228
48985601924 rs761764430 0.000 missenseGSer [S]2228
contig referenceAAsn [N]2228
48985605920 rs1167759745 N.D. missenseAIle [I]1227
contig referenceTPhe [F]1227
48985850919 rs760384808 0.000byFreq synonymousTAsn [N]3226
contig referenceCAsn [N]3226
48985852917 rs1298100805 N.D. missenseGAsp [D]1226
contig referenceAAsn [N]1226
48985856913 rs1433073104 N.D. synonymousALeu [L]3224
contig referenceGLeu [L]3224
48985859910 rs752280761 0.000byFreq synonymousTAsn [N]3223
contig referenceCAsn [N]3223
48985859908 rs754034802 0.000 -1223
48985862907 rs201548356 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseALys [K]3222
missenseGLys [K]3222
synonymousTAsn [N]3222
contig referenceCAsn [N]3222
48985863906 rs1273172369 N.D. missenseGSer [S]2222
contig referenceAAsn [N]2222
48985864905 rs753284735 N.D. missenseGAsp [D]1222
contig referenceAAsn [N]