Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
308..308 |
G/A |
rs202042555 |
+ |
CDS |
Nonsynonymous[Arg9Gln] |
322..322 |
C/T |
rs143340083 |
+ |
CDS |
Nonsynonymous[Leu14Phe] |
361..361 |
C/T |
rs61344341 |
+ |
CDS |
Nonsynonymous[Pro27Ser] |
370..370 |
C/T |
rs148746042 |
+ |
CDS |
Nonsynonymous[Pro30Ser] |
383..383 |
C/A |
rs141395815 |
+ |
CDS |
Nonsynonymous[Pro34His] |
391..391 |
A/G |
rs139959335 |
+ |
CDS |
Nonsynonymous[Met37Val] |
415..415 |
G/T |
rs146722075 |
+ |
CDS |
Nonsynonymous[Ala45Ser] |
418..418 |
G/- |
rs35601433 |
+ |
CDS |
|
427..427 |
C/T |
rs149932567 |
+ |
CDS |
Nonsynonymous[Arg49Cys] |
430^431 |
-/G |
rs35950410 |
+ |
CDS |
|
507..507 |
A/G |
rs142437672 |
+ |
CDS |
Synonymous[Gln75Gln] |
515..515 |
C/G |
rs201231738 |
+ |
CDS |
Nonsynonymous[Thr78Ser] |
590..590 |
G/A |
rs145739027 |
+ |
CDS |
Nonsynonymous[Arg103Gln] |
610..610 |
A/G |
rs12612365 |
+ |
CDS |
Nonsynonymous[Ile110Val] |
611..611 |
T/C |
rs199581978 |
+ |
CDS |
Nonsynonymous[Ile110Thr] |
616..616 |
G/T |
rs147124716 |
+ |
CDS |
Nonsynonymous[Ala112Ser] |
643..643 |
G/C |
rs200279719 |
+ |
CDS |
Nonsynonymous[Val121Leu] |
672..672 |
A/G |
rs201188979 |
+ |
CDS |
Synonymous[Lys130Lys] |
673..673 |
G/T |
rs201124084 |
+ |
CDS |
Nonsynonymous[Val131Leu] |
690..690 |
A/G |
rs186891171 |
+ |
CDS |
Synonymous[Thr136Thr] |
744..744 |
A/G |
rs192501942 |
+ |
CDS |
Synonymous[Leu154Leu] |
757..757 |
C/T |
rs150249098 |
+ |
CDS |
Nonsynonymous[Arg159Cys] |
832..832 |
C/T |
rs138776273 |
+ |
CDS |
Nonsynonymous[Arg184Cys] |
933..933 |
T/C |
rs146296595 |
+ |
CDS |
Synonymous[Tyr217Tyr] |
996..996 |
C/T |
rs113179624 |
+ |
CDS |
Synonymous[Val238Val] |
1004..1004 |
A/C |
rs117125782 |
+ |
CDS |
Nonsynonymous[Glu241Ala] |
1051..1051 |
G/A |
rs185707555 |
+ |
CDS |
Nonsynonymous[Val257Met] |
1066..1066 |
A/G |
rs141845828 |
+ |
CDS |
Nonsynonymous[Met262Val] |
1083..1083 |
C/T |
rs199820298 |
+ |
CDS |
Synonymous[Asp267Asp] |
1107..1107 |
C/T |
rs148484922 |
+ |
CDS |
Synonymous[Pro275Pro] |
1120..1120 |
A/G |
rs150990011 |
+ |
CDS |
Nonsynonymous[Asn280Asp] |
1147..1147 |
A/T |
rs147769180 |
+ |
CDS |
Nonsynonymous[Ser289Cys] |
1161..1161 |
G/A |
rs141176451 |
+ |
CDS |
Nonsynonymous[Met293Ile] |
1171..1171 |
C/T |
rs202077297 |
+ |
CDS |
Nonsynonymous[His297Tyr] |
1194..1194 |
C/T |
rs145388354 |
+ |
CDS |
Synonymous[Val304Val] |
1205..1205 |
T/C |
rs201839539 |
+ |
CDS |
Nonsynonymous[Ile308Thr] |
1213..1213 |
G/A |
rs143329395 |
+ |
CDS |
Nonsynonymous[Val311Ile] |
1225..1225 |
A/G |
rs139900748 |
+ |
CDS |
Nonsynonymous[Ile315Val] |
1246..1246 |
A/C |
rs2160780 |
+ |
CDS |
Nonsynonymous[Thr322Pro] |
1287..1287 |
A/G |
rs199581220 |
+ |
CDS |
Synonymous[Gln335Gln] |
1295..1295 |
C/T |
rs201306909 |
+ |
CDS |
Nonsynonymous[Ser338Leu] |
1298..1298 |
C/T |
rs200383884 |
+ |
CDS |
Nonsynonymous[Ser339Leu] |
1328..1328 |
A/G |
rs113479982 |
+ |
CDS |
Nonsynonymous[Glu349Gly] |
1340..1340 |
A/G |
rs138325312 |
+ |
CDS |
Nonsynonymous[His353Arg] |
1359..1359 |
A/G |
rs150619658 |
+ |
CDS |
Synonymous[Ser359Ser] |
1363..1363 |
A/G |
rs199650109 |
+ |
CDS |
Nonsynonymous[Asn361Asp] |
1365..1365 |
C/T |
rs143507454 |
+ |
CDS |
Synonymous[Asn361Asn] |
1370..1370 |
A/C |
rs151209971 |
+ |
CDS |
Nonsynonymous[His363Pro] |
1374..1374 |
T/C |
rs112707279 |
+ |
CDS |
Synonymous[Val364Val] |
1411..1411 |
G/A |
rs147367833 |
+ |
CDS |
Nonsynonymous[Ala377Thr] |
1417..1417 |
A/G |
rs144997139 |
+ |
CDS |
Nonsynonymous[Ile379Val] |
1465..1465 |
A/G |
rs190073602 |
+ |
CDS |
Nonsynonymous[Lys395Glu] |
1483..1483 |
G/T |
rs192912662 |
+ |
CDS |
Nonsynonymous[Ala401Ser] |
1493..1493 |
T/G |
rs141088778 |
+ |
CDS |
Nonsynonymous[Met404Arg] |
1533..1533 |
T/C |
rs202045042 |
+ |
CDS |
Synonymous[Tyr417Tyr] |
1536..1536 |
A/G |
rs145810685 |
+ |
CDS |
Synonymous[Ala418Ala] |
1742..1742 |
G/A |
rs201723803 |
+ |
CDS |
Nonsynonymous[Arg487His] |
1759..1759 |
C/T |
rs201804622 |
+ |
CDS |
Nonsynonymous[Pro493Ser] |
1765..1765 |
C/T |
rs138286919 |
+ |
CDS |
Nonsynonymous[Arg495Cys] |
1788..1788 |
T/A |
rs143227391 |
+ |
CDS |
Nonsynonymous[Ser502Arg] |
1814..1814 |
C/G |
rs199889606 |
+ |
CDS |
Nonsynonymous[Pro511Arg] |
1815..1815 |
A/G |
rs141783047 |
+ |
CDS |
Synonymous[Pro511Pro] |
1820..1820 |
A/G |
rs150601215 |
+ |
CDS |
Nonsynonymous[His513Arg] |
1859..1859 |
G/A |
rs201804304 |
+ |
CDS |
Nonsynonymous[Cys526Tyr] |
1862..1862 |
A/G |
rs142786476 |
+ |
CDS |
Nonsynonymous[His527Arg] |
1869..1869 |
C/A |
rs201676031 |
+ |
CDS |
Nonsynonymous[Phe529Leu] |
1880..1880 |
A/C |
rs139534930 |
+ |
CDS |
Nonsynonymous[Tyr533Ser] |
1900..1900 |
C/T |
rs143867377 |
+ |
CDS |
Nonsynonymous[Arg540Cys] |
1913..1913 |
G/A |
rs142061376 |
+ |
CDS |
Nonsynonymous[Arg544Gln] |
1915..1915 |
A/G |
rs112206531 |
+ |
CDS |
Nonsynonymous[Ile545Val] |
1946..1946 |
G/C |
rs139768586 |
+ |
CDS |
Nonsynonymous[Cys555Ser] |
1957..1957 |
G/A |
rs141290351 |
+ |
CDS |
Nonsynonymous[Val559Ile] |
1972..1972 |
A/G |
rs150230256 |
+ |
CDS |
Nonsynonymous[Met564Val] |
1980..1980 |
G/A |
rs148916996 |
+ |
CDS |
Synonymous[Arg566Arg] |
1981..1981 |
A/C |
rs201282801 |
+ |
CDS |
Synonymous[Arg567Arg] |
2011..2011 |
G/A |
rs200204477 |
+ |
CDS |
Nonsynonymous[Ala577Thr] |
2024..2024 |
T/C |
rs138899346 |
+ |
CDS |
Nonsynonymous[Val581Ala] |
2036..2036 |
C/T |
rs183097207 |
+ |
CDS |
Nonsynonymous[Ser585Phe] |
2116..2116 |
A/T |
rs200872776 |
+ |
CDS |
Nonsynonymous[Thr612Ser] |
2118..2118 |
T/C |
rs138149461 |
+ |
CDS |
Synonymous[Thr612Thr] |
2129..2129 |
C/G |
rs200070040 |
+ |
CDS |
Nonsynonymous[Thr616Arg] |
2146..2146 |
C/T |
rs150523011 |
+ |
CDS |
Nonsynonymous[Pro622Ser] |
2155..2155 |
G/A |
rs202139397 |
+ |
CDS |
Nonsynonymous[Ala625Thr] |
2164..2164 |
A/G |
rs34205800 |
- |
CDS |
Nonsynonymous[Ser628Gly] |
2195..2195 |
G/A |
rs139747916 |
+ |
CDS |
Nonsynonymous[Arg638His] |
2238..2238 |
T/C |
rs146604582 |
+ |
CDS |
Synonymous[Cys652Cys] |
2273..2273 |
G/A |
rs151263818 |
+ |
CDS |
Nonsynonymous[Arg664Gln] |
2278..2278 |
C/T |
rs200894037 |
+ |
CDS |
Nonsynonymous[Leu666Phe] |
2292..2292 |
G/A |
rs140509385 |
+ |
CDS |
Synonymous[Gln670Gln] |
2309..2309 |
C/G |
rs147676010 |
+ |
CDS |
Nonsynonymous[Ser676Trp] |
2328..2328 |
A/G |
rs138204529 |
+ |
CDS |
Synonymous[Glu682Glu] |
2347..2347 |
A/G |
rs77437472 |
+ |
CDS |
Nonsynonymous[Thr689Ala] |
2368..2368 |
T/G |
rs41285973 |
+ |
CDS |
Nonsynonymous[Leu696Val] |
2391..2391 |
G/T |
rs201869646 |
+ |
CDS |
Synonymous[Val703Val] |
2464..2464 |
A/G |
rs148213573 |
+ |
CDS |
Nonsynonymous[Ile728Val] |
2495..2495 |
C/T |
rs146178620 |
+ |
CDS |
Nonsynonymous[Thr738Met] |
2564..2564 |
A/G |
rs143058176 |
+ |
CDS |
Nonsynonymous[Lys761Arg] |
2614..2614 |
G/A |
rs139995993 |
+ |
CDS |
Nonsynonymous[Ala778Thr] |
2620..2620 |
G/C |
rs144800862 |
+ |
CDS |
Nonsynonymous[Ala780Pro] |
2626..2626 |
A/G |
rs145489685 |
+ |
CDS |
Nonsynonymous[Lys782Glu] |
2671..2671 |
C/A |
rs142316365 |
+ |
CDS |
Nonsynonymous[Gln797Lys] |
2704..2704 |
T/C |
rs151000390 |
+ |
CDS |
Nonsynonymous[Ser808Pro] |
2720..2720 |
C/A |
rs150135565 |
+ |
CDS |
Nonsynonymous[Ala813Glu] |
2744..2744 |
C/A |
rs141861784 |
+ |
CDS |
Nonsynonymous[Thr821Lys] |
2745..2745 |
G/C |
rs137938593 |
+ |
CDS |
Synonymous[Thr821Thr] |
2746..2746 |
G/T |
rs199700727 |
+ |
CDS |
Nonsynonymous[Val822Leu] |
2773..2773 |
A/G |
rs192756054 |
+ |
CDS |
Nonsynonymous[Ile831Val] |
2798..2798 |
A/G |
rs148370960 |
+ |
CDS |
Nonsynonymous[Lys839Arg] |
2800..2800 |
A/G |
rs141594305 |
+ |
CDS |
Nonsynonymous[Lys840Glu] |
2822..2822 |
C/G |
rs139382504 |
+ |
CDS |
Nonsynonymous[Thr847Ser] |
2854..2854 |
C/G |
rs147260381 |
+ |
CDS |
Nonsynonymous[Pro858Ala] |
2859..2859 |
G/C |
rs145725176 |
+ |
CDS |
Synonymous[Val859Val] |
2880..2880 |
A/C |
rs149108193 |
+ |
CDS |
Nonsynonymous[Glu866Asp] |
2961..2961 |
G/A |
rs35743342 |
- |
CDS |
Synonymous[Glu893Glu] |
2971..2971 |
C/T |
rs137918800 |
+ |
CDS |
Nonsynonymous[Leu897Phe] |
2994..2994 |
G/A |
rs200740029 |
+ |
CDS |
Nonsynonymous[Met904Ile] |
3128..3128 |
A/G |
rs140933858 |
+ |
CDS |
Nonsynonymous[Asn949Ser] |
3143..3143 |
A/G |
rs138411029 |
+ |
CDS |
Nonsynonymous[Glu954Gly] |
3159..3159 |
T/G |
rs201755857 |
+ |
CDS |
Nonsynonymous[Phe959Leu] |
3189..3189 |
A/G |
rs192488900 |
+ |
CDS |
Synonymous[Gly969Gly] |
3221..3221 |
A/G |
rs3732235 |
- |
CDS |
Nonsynonymous[Asn980Ser] |
3300..3300 |
C/T |
rs3732233 |
- |
CDS |
Synonymous[Ile1006Ile] |
3308..3308 |
G/A |
rs201827229 |
+ |
CDS |
Nonsynonymous[Arg1009Gln] |
3310..3310 |
T/C |
rs202110046 |
+ |
CDS |
Nonsynonymous[Phe1010Leu] |
3333..3333 |
G/A |
rs144453296 |
+ |
CDS |
Synonymous[Pro1017Pro] |
3352..3352 |
G/A |
rs200414897 |
+ |
CDS |
Nonsynonymous[Val1024Ile] |
3386..3386 |
A/G |
rs79404456 |
+ |
CDS |
Nonsynonymous[Asp1035Gly] |
3414..3414 |
T/C |
rs6714975 |
+ |
CDS |
Synonymous[Asn1044Asn] |
3494..3494 |
G/A |
rs188031223 |
+ |
CDS |
Nonsynonymous[Gly1071Asp] |
3504..3504 |
G/A |
rs201261019 |
+ |
CDS |
Nonsynonymous[Met1074Ile] |
3574..3574 |
A/G |
rs200649836 |
+ |
CDS |
Nonsynonymous[Lys1098Glu] |
3603..3603 |
A/G |
rs139279667 |
+ |
CDS |
Synonymous[Pro1107Pro] |
3604..3604 |
A/G |
rs61739715 |
+ |
CDS |
Nonsynonymous[Ile1108Val] |
3678..3678 |
T/C |
rs200897754 |
+ |
CDS |
Synonymous[Thr1132Thr] |
3685..3685 |
A/G |
rs185703288 |
+ |
CDS |
Nonsynonymous[Ile1135Val] |
3694..3694 |
G/C |
rs4130106 |
+ |
CDS |
Nonsynonymous[Glu1138Gln] |
3745..3745 |
A/G |
rs144082774 |
+ |
CDS |
Nonsynonymous[Thr1155Ala] |
3793..3793 |
G/A |
rs150465488 |
+ |
CDS |
Nonsynonymous[Gly1171Arg] |
3800..3800 |
A/C |
rs143103673 |
+ |
CDS |
Nonsynonymous[Glu1173Ala] |
3869..3869 |
A/G |
rs116659706 |
+ |
CDS |
Nonsynonymous[Glu1196Gly] |
3874..3874 |
T/C |
rs79157966 |
+ |
CDS |
Nonsynonymous[Cys1198Arg] |
3921..3921 |
G/A |
rs146738177 |
+ |
CDS |
Synonymous[Gly1213Gly] |
3949..3949 |
T/C |
rs199608914 |
+ |
CDS |
Synonymous[Leu1223Leu] |
4008..4008 |
A/G |
rs201581136 |
+ |
CDS |
Synonymous[Glu1242Glu] |
4012..4012 |
C/T |
rs199964157 |
+ |
CDS |
Nonsynonymous[Pro1244Ser] |
4037..4037 |
C/T |
rs200959738 |
+ |
CDS |
Nonsynonymous[Ser1252Phe] |
4057..4057 |
G/A |
rs143109432 |
+ |
CDS |
Nonsynonymous[Val1259Ile] |
4064..4064 |
C/G |
rs144120960 |
+ |
CDS |
Nonsynonymous[Ala1261Gly] |
4093..4093 |
G/A |
rs190508127 |
+ |
CDS |
Nonsynonymous[Val1271Ile] |
4098..4098 |
G/A |
rs148536654 |
+ |
CDS |
Synonymous[Ser1272Ser] |
4105..4105 |
T/C |
rs202025752 |
+ |
CDS |
Synonymous[Leu1275Leu] |
4127..4127 |
C/T |
rs199912411 |
+ |
CDS |
Nonsynonymous[Thr1282Met] |
4222..4222 |
G/A |
rs200049975 |
+ |
CDS |
Nonsynonymous[Glu1314Lys] |
4265..4265 |
C/T |
rs139394121 |
+ |
CDS |
Nonsynonymous[Thr1328Ile] |
4285..4285 |
G/A |
rs183156417 |
+ |
CDS |
Nonsynonymous[Glu1335Lys] |
4327..4327 |
A/G |
rs144170489 |
+ |
CDS |
Nonsynonymous[Met1349Val] |
4462..4462 |
A/G |
rs201371403 |
+ |
CDS |
Nonsynonymous[Ile1394Val] |
4463..4463 |
T/C |
rs202213703 |
+ |
CDS |
Nonsynonymous[Ile1394Thr] |
4503..4503 |
A/C |
rs3198781 |
+ |
CDS |
Synonymous[Thr1407Thr] |
4610..4610 |
C/T |
rs200685577 |
+ |
CDS |
Nonsynonymous[Thr1443Ile] |
4619..4619 |
G/T |
rs139893661 |
+ |
CDS |
Nonsynonymous[Arg1446Met] |
4667..4667 |
G/A |
rs10427371 |
+ |
CDS |
Nonsynonymous[Ser1462Asn] |
4681..4681 |
G/C |
rs147572028 |
+ |
CDS |
Nonsynonymous[Gly1467Arg] |
4710..4710 |
C/A |
rs146917773 |
+ |
CDS |
Synonymous[Gly1476Gly] |
4711..4711 |
A/C |
rs141500457 |
+ |
CDS |
Nonsynonymous[Lys1477Gln] |
4713..4713 |
G/A |
rs138196368 |
+ |
CDS |
Synonymous[Lys1477Lys] |
4786..4786 |
C/T |
rs146056742 |
+ |
CDS |
Nonsynonymous[Arg1502Trp] |
4811..4811 |
T/C |
rs141959204 |
+ |
CDS |
Nonsynonymous[Leu1510Ser] |
4864..4864 |
T/C |
rs186518279 |
+ |
CDS |
Nonsynonymous[Ser1528Pro] |
4963..4963 |
C/G |
rs139978695 |
+ |
CDS |
Nonsynonymous[Leu1561Val] |
4968..4968 |
G/A |
rs76058335 |
+ |
CDS |
Synonymous[Lys1562Lys] |
5001..5001 |
T/C |
rs147562349 |
+ |
CDS |
Synonymous[Pro1573Pro] |
5028..5028 |
A/G |
rs144211981 |
+ |
CDS |
Synonymous[Lys1582Lys] |
5035..5035 |
A/G |
rs201537411 |
+ |
CDS |
Nonsynonymous[Lys1585Glu] |
5051..5051 |
G/A |
rs149013084 |
+ |
CDS |
Nonsynonymous[Arg1590His] |
5053..5053 |
G/A |
rs199963949 |
+ |
CDS |
Nonsynonymous[Gly1591Ser] |
5057..5057 |
T/C |
rs187966415 |
+ |
CDS |
Nonsynonymous[Val1592Ala] |
5131..5131 |
G/A |
rs148150743 |
+ |
CDS |
Nonsynonymous[Ala1617Thr] |
5170..5170 |
C/G |
rs193278190 |
+ |
CDS |
Nonsynonymous[Leu1630Val] |
5218..5218 |
G/A |
rs145029353 |
+ |
CDS |
Nonsynonymous[Asp1646Asn] |
5239..5239 |
G/A |
rs141918655 |
+ |
CDS |
Nonsynonymous[Asp1653Asn] |
5251..5251 |
C/G |
rs201296102 |
+ |
CDS |
Nonsynonymous[His1657Asp] |
5365..5365 |
A/G |
rs199561881 |
+ |
CDS |
Nonsynonymous[Asn1695Asp] |
5403..5403 |
T/C |
rs78435553 |
+ |
CDS |
Synonymous[Thr1707Thr] |
5411..5411 |
A/G |
rs185145365 |
+ |
CDS |
Nonsynonymous[Asn1710Ser] |
5458..5458 |
G/A |
rs1804020 |
+ |
CDS |
Nonsynonymous[Val1726Met] |
5463..5463 |
C/T |
rs147156449 |
+ |
CDS |
Synonymous[Pro1727Pro] |
5491..5491 |
G/C |
rs4479447 |
+ |
CDS |
Nonsynonymous[Asp1737His] |
5518..5518 |
T/C |
rs144172357 |
+ |
CDS |
Synonymous[Leu1746Leu] |
5570..5570 |
C/T |
rs140596491 |
+ |
CDS |
Nonsynonymous[Ala1763Val] |
5574..5574 |
T/C |
rs149779407 |
+ |
CDS |
Synonymous[Asp1764Asp] |
5595..5595 |
G/C |
rs192551503 |
+ |
CDS |
Nonsynonymous[Glu1771Asp] |
5636..5636 |
A/G |
rs145408653 |
+ |
CDS |
Nonsynonymous[Asp1785Gly] |
5672..5672 |
G/A |
rs201518874 |
+ |
CDS |
Nonsynonymous[Ser1797Asn] |
5703..5703 |
G/A |
rs201030892 |
+ |
CDS |
Synonymous[Gly1807Gly] |
5728..5728 |
A/G |
rs145117059 |
+ |
CDS |
Nonsynonymous[Thr1816Ala] |
5733..5733 |
A/G |
rs60163900 |
+ |
CDS |
Synonymous[Lys1817Lys] |
5757..5757 |
C/T |
rs144815539 |
+ |
CDS |
Synonymous[Ser1825Ser] |
5795..5795 |
A/G |
rs150364678 |
+ |
CDS |
Nonsynonymous[Asp1838Gly] |
5805..5805 |
C/G |
rs145701404 |
+ |
CDS |
Synonymous[Thr1841Thr] |
5828..5828 |
C/T |
rs139401563 |
+ |
CDS |
Nonsynonymous[Ala1849Val] |
5830..5830 |
A/G |
rs141838860 |
+ |
CDS |
Nonsynonymous[Lys1850Glu] |
5884..5884 |
G/C |
rs114489501 |
+ |
CDS |
Nonsynonymous[Val1868Leu] |
5999..5999 |
C/G |
rs142770538 |
+ |
CDS |
Nonsynonymous[Ser1906Cys] |
6017..6017 |
C/T |
rs11542286 |
- |
CDS |
Nonsynonymous[Ala1912Val] |
6026..6026 |
T/C |
rs201989581 |
+ |
CDS |
Nonsynonymous[Val1915Ala] |
6032..6032 |
A/C |
rs151107068 |
+ |
CDS |
Nonsynonymous[Glu1917Ala] |
6145..6145 |
A/G |
rs111888663 |
+ |
CDS |
Nonsynonymous[Ser1955Gly] |