Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
76..76 |
T/G |
rs141156601 |
+ |
CDS |
Synonymous[Gly12Gly] |
173..173 |
A/G |
rs150893869 |
+ |
CDS |
Nonsynonymous[Lys45Glu] |
205..205 |
A/T |
rs138114093 |
+ |
CDS |
Nonsynonymous[Lys55Asn] |
241..241 |
C/T |
rs149531106 |
+ |
CDS |
Synonymous[Ser67Ser] |
311..311 |
A/C |
rs200633931 |
+ |
CDS |
Nonsynonymous[Lys91Gln] |
316..316 |
G/A |
rs147201653 |
+ |
CDS |
Synonymous[Glu92Glu] |
317..317 |
G/T |
rs200821951 |
+ |
CDS |
Nonsynonymous[Val93Leu] |
328..328 |
G/A |
rs140523371 |
+ |
CDS |
Synonymous[Leu96Leu] |
351..351 |
A/G |
rs142790276 |
+ |
CDS |
Nonsynonymous[Asn104Ser] |
397..397 |
C/T |
rs183788679 |
+ |
CDS |
Synonymous[Tyr119Tyr] |
425..425 |
C/A |
rs78125145 |
+ |
CDS |
Nonsynonymous[Gln129Lys] |
448..448 |
A/G |
rs7914506 |
+ |
CDS |
Synonymous[Leu136Leu] |
478..478 |
A/T |
rs148732555 |
+ |
CDS |
Synonymous[Gly146Gly] |
494..494 |
G/A |
rs199919341 |
+ |
CDS |
Nonsynonymous[Val152Met] |
509..509 |
G/C |
rs61756019 |
+ |
CDS |
Nonsynonymous[Gly157Arg] |
724..724 |
C/G |
rs151246713 |
+ |
CDS |
Nonsynonymous[Asn228Lys] |
787..787 |
C/T |
rs139423894 |
+ |
CDS |
Synonymous[Asn249Asn] |
831..831 |
C/T |
rs61731093 |
+ |
CDS |
Nonsynonymous[Thr264Met] |
883..883 |
A/G |
rs200291968 |
+ |
CDS |
Synonymous[Gly281Gly] |
887..887 |
G/C |
rs191666554 |
+ |
CDS |
Nonsynonymous[Val283Leu] |
931..931 |
G/A |
rs201307851 |
+ |
CDS |
Synonymous[Thr297Thr] |
954..954 |
C/T |
rs146625130 |
+ |
CDS |
Nonsynonymous[Thr305Met] |
955..955 |
G/A |
rs201957446 |
+ |
CDS |
Synonymous[Thr305Thr] |
959..959 |
G/A |
rs141352682 |
+ |
CDS |
Nonsynonymous[Val307Met] |
971..971 |
A/G |
rs190994349 |
+ |
CDS |
Nonsynonymous[Met311Val] |
980..980 |
G/A |
rs201397125 |
+ |
CDS |
Nonsynonymous[Asp314Asn] |
987..987 |
A/G |
rs111421816 |
+ |
CDS |
Nonsynonymous[Lys316Arg] |
999..999 |
C/T |
rs145088287 |
+ |
CDS |
Nonsynonymous[Thr320Ile] |
1006..1006 |
C/G |
rs145535929 |
+ |
CDS |
Nonsynonymous[Phe322Leu] |
1040..1040 |
G/A |
rs148850392 |
+ |
CDS |
Nonsynonymous[Val334Ile] |
1064..1064 |
C/A |
rs200342633 |
+ |
CDS |
Nonsynonymous[His342Asn] |
1065..1065 |
A/G |
rs199928401 |
+ |
CDS |
Nonsynonymous[His342Arg] |
1112..1112 |
C/G |
rs143460544 |
+ |
CDS |
Nonsynonymous[Arg358Gly] |
1128..1128 |
A/C |
rs201726517 |
+ |
CDS |
Nonsynonymous[Asn363Thr] |
1224..1224 |
G/A |
rs147977386 |
+ |
CDS |
Nonsynonymous[Arg395Gln] |
1230..1230 |
G/A |
rs7074814 |
+ |
CDS |
Nonsynonymous[Ser397Asn] |
1275..1275 |
A/G |
rs143384865 |
+ |
CDS |
Nonsynonymous[Lys412Arg] |
1281..1281 |
G/A |
rs201230473 |
+ |
CDS |
Nonsynonymous[Gly414Glu] |
1347..1347 |
G/A |
rs146207561 |
+ |
CDS |
Nonsynonymous[Arg436Gln] |
1350..1350 |
C/T |
rs138880245 |
+ |
CDS |
Nonsynonymous[Thr437Met] |
1354..1354 |
T/C |
rs142809675 |
+ |
CDS |
Synonymous[Ser438Ser] |
1355..1355 |
A/G |
rs145031913 |
+ |
CDS |
Nonsynonymous[Ile439Val] |
1368..1368 |
A/G |
rs147402275 |
+ |
CDS |
Nonsynonymous[Gln443Arg] |
1388..1388 |
A/G |
rs200574458 |
+ |
CDS |
Nonsynonymous[Ile450Val] |
1435..1435 |
A/G |
rs139826001 |
+ |
CDS |
Synonymous[Ser465Ser] |
1482..1482 |
C/G |
rs180760747 |
+ |
CDS |
Nonsynonymous[Pro481Arg] |
1517..1517 |
C/A |
rs201433998 |
+ |
CDS |
Nonsynonymous[Pro493Thr] |
1519..1519 |
G/A |
rs2271750 |
+ |
CDS |
Synonymous[Pro493Pro] |
1554..1554 |
G/T |
rs199836327 |
+ |
CDS |
Nonsynonymous[Cys505Phe] |
1600..1600 |
C/G |
rs144695386 |
+ |
CDS |
Synonymous[Thr520Thr] |
1652..1652 |
G/A |
rs148511637 |
+ |
CDS |
Nonsynonymous[Asp538Asn] |
1660..1660 |
G/A |
rs192021632 |
+ |
CDS |
Synonymous[Lys540Lys] |
1661..1661 |
C/T |
rs151091903 |
+ |
CDS |
Nonsynonymous[Pro541Ser] |
1720..1720 |
G/A |
rs146156628 |
+ |
CDS |
Synonymous[Lys560Lys] |
1755..1755 |
A/G |
rs113864359 |
+ |
CDS |
Nonsynonymous[His572Arg] |
1800..1800 |
A/G |
rs140178180 |
+ |
CDS |
Nonsynonymous[Tyr587Cys] |
1826..1826 |
G/A/T |
rs138854677 |
+ |
CDS |
|
1875..1875 |
T/A |
rs151294867 |
+ |
CDS |
Nonsynonymous[Leu612Gln] |
1879..1879 |
G/A |
rs140230868 |
+ |
CDS |
Synonymous[Ser613Ser] |
1890..1890 |
A/G |
rs201364983 |
+ |
CDS |
Nonsynonymous[Glu617Gly] |
1907..1907 |
G/T |
rs11598673 |
+ |
CDS |
Nonsynonymous[Ala623Ser] |
1920..1920 |
A/G |
rs201390813 |
+ |
CDS |
Nonsynonymous[Gln627Arg] |
1933..1933 |
A/G |
rs144933488 |
+ |
CDS |
Synonymous[Lys631Lys] |
1950..1950 |
A/G |
rs191892747 |
+ |
CDS |
Nonsynonymous[Gln637Arg] |
1976..1976 |
A/G |
rs141961630 |
+ |
CDS |
Nonsynonymous[Lys646Glu] |
2006..2006 |
C/T |
rs145722717 |
+ |
CDS |
Synonymous[Leu656Leu] |
2049..2049 |
C/T |
rs138971174 |
+ |
CDS |
Nonsynonymous[Ser670Leu] |
2050..2050 |
G/A |
rs141435496 |
+ |
CDS |
Synonymous[Ser670Ser] |
2057..2057 |
G/A |
rs143564622 |
+ |
CDS |
Nonsynonymous[Val673Ile] |
2075..2075 |
T/G |
rs148029299 |
+ |
CDS |
Nonsynonymous[Leu679Val] |
2102..2102 |
A/G |
rs200695050 |
+ |
CDS |
Nonsynonymous[Ile688Val] |
2135..2135 |
G/A |
rs61751510 |
+ |
CDS |
Nonsynonymous[Glu699Lys] |
2149..2149 |
T/C |
rs150856565 |
+ |
CDS |
Synonymous[Leu703Leu] |
2238..2238 |
T/C |
rs138280588 |
+ |
CDS |
Nonsynonymous[Ile733Thr] |
2270..2270 |
G/A |
rs149539197 |
+ |
CDS |
Nonsynonymous[Val744Met] |
2284..2284 |
C/T |
rs201271419 |
+ |
CDS |
Synonymous[Phe748Phe] |
2300..2300 |
G/A |
rs142808362 |
+ |
CDS |
Nonsynonymous[Gly754Arg] |
2360..2360 |
G/C |
rs146059944 |
+ |
CDS |
Nonsynonymous[Val774Leu] |
2378..2378 |
G/T |
rs11591914 |
+ |
CDS |
Nonsynonymous[Ala780Ser] |
2379..2379 |
C/T |
rs145404572 |
+ |
CDS |
Nonsynonymous[Ala780Val] |
2384..2384 |
A/G |
rs200777243 |
+ |
CDS |
Nonsynonymous[Lys782Glu] |
2439..2439 |
C/T |
rs140197445 |
+ |
CDS |
Nonsynonymous[Ser800Leu] |
2500..2500 |
G/C |
rs143885184 |
+ |
CDS |
Nonsynonymous[Glu820Asp] |
2504..2504 |
C/T |
rs11191685 |
+ |
CDS |
Synonymous[Leu822Leu] |
2512..2512 |
C/T |
rs144821281 |
+ |
CDS |
Synonymous[Gly824Gly] |
2513..2513 |
G/A |
rs148565951 |
+ |
CDS |
Nonsynonymous[Val825Met] |
2554..2554 |
G/T |
rs200374616 |
+ |
CDS |
Nonsynonymous[Gln838His] |
2556..2556 |
C/T |
rs142899352 |
+ |
CDS |
Nonsynonymous[Thr839Met] |
2563..2563 |
C/T |
rs148098152 |
+ |
CDS |
Synonymous[Ala841Ala] |
2574..2574 |
C/T |
rs142052555 |
+ |
CDS |
Nonsynonymous[Pro845Leu] |
2588..2588 |
G/A |
rs144250771 |
+ |
CDS |
Nonsynonymous[Asp850Asn] |
2589..2589 |
A/G |
rs147765576 |
+ |
CDS |
Nonsynonymous[Asp850Gly] |
2599..2599 |
G/A |
rs113663830 |
+ |
CDS |
Synonymous[Val853Val] |
2650..2650 |
C/T |
rs141472462 |
+ |
CDS |
Synonymous[Pro870Pro] |
2654..2654 |
C/G |
rs150379700 |
+ |
CDS |
Nonsynonymous[Leu872Val] |
2670..2670 |
G/A |
rs199529671 |
+ |
CDS |
Nonsynonymous[Ser877Asn] |
2673..2673 |
G/C |
rs138071252 |
+ |
CDS |
Nonsynonymous[Arg878Thr] |
2683..2683 |
C/T |
rs149086019 |
+ |
CDS |
Synonymous[Arg881Arg] |
2736..2736 |
T/C |
rs61751511 |
+ |
CDS |
Nonsynonymous[Val899Ala] |
2761..2761 |
C/T |
rs183860702 |
+ |
CDS |
Synonymous[His907His] |
2796..2796 |
C/T |
rs201153613 |
+ |
CDS |
Nonsynonymous[Ala919Val] |
2819..2819 |
G/A |
rs202170736 |
+ |
CDS |
Nonsynonymous[Glu927Lys] |
2880..2880 |
C/T |
rs138371160 |
+ |
CDS |
Nonsynonymous[Thr947Met] |
2889..2889 |
T/C |
rs201352703 |
+ |
CDS |
Nonsynonymous[Leu950Pro] |
2897..2897 |
T/C |
rs199624392 |
+ |
CDS |
Nonsynonymous[Phe953Leu] |
2899..2899 |
C/T |
rs200516240 |
+ |
CDS |
Synonymous[Phe953Phe] |
2917..2917 |
C/A |
rs142836942 |
+ |
CDS |
Synonymous[Leu959Leu] |
2920..2920 |
C/T |
rs142048126 |
+ |
CDS |
Synonymous[Asn960Asn] |
2921..2921 |
G/A |
rs117992169 |
+ |
CDS |
Nonsynonymous[Asp961Asn] |
2930..2930 |
C/T |
rs111766494 |
+ |
CDS |
Nonsynonymous[Arg964Cys] |
2931..2931 |
G/A |
rs138821930 |
+ |
CDS |
Nonsynonymous[Arg964His] |
3030..3030 |
C/T |
rs146163208 |
+ |
CDS |
Nonsynonymous[Pro997Leu] |
3054..3054 |
C/T |
rs141400211 |
+ |
CDS |
Nonsynonymous[Pro1005Leu] |
3074..3074 |
A/T |
rs150905850 |
+ |
CDS |
Nonsynonymous[Thr1012Ser] |
3186..3186 |
C/T |
rs185014546 |
+ |
CDS |
Nonsynonymous[Thr1049Ile] |
3306..3306 |
C/T |
rs113363382 |
+ |
CDS |
Nonsynonymous[Thr1089Ile] |
3323..3323 |
G/A |
rs149624796 |
+ |
CDS |
Nonsynonymous[Gly1095Arg] |
3344..3344 |
A/G |
rs140189469 |
+ |
CDS |
Nonsynonymous[Lys1102Glu] |
3356..3356 |
A/G |
rs140429035 |
+ |
CDS |
Nonsynonymous[Ile1106Val] |
3373..3373 |
C/T |
rs144287622 |
+ |
CDS |
Synonymous[Phe1111Phe] |
3397..3397 |
T/A |
rs147787925 |
+ |
CDS |
Nonsynonymous[Ser1119Arg] |
3412..3412 |
G/A |
rs139477366 |
+ |
CDS |
Synonymous[Glu1124Glu] |
3436..3436 |
T/C |
rs142484346 |
+ |
CDS |
Synonymous[Leu1132Leu] |
3440..3440 |
A/G |
rs151021314 |
+ |
CDS |
Nonsynonymous[Thr1134Ala] |
3484..3484 |
C/T |
rs79997414 |
+ |
CDS |
Synonymous[Ala1148Ala] |
3490..3490 |
G/T |
rs140882275 |
+ |
CDS |
Nonsynonymous[Gln1150His] |
3564..3564 |
G/A |
rs61760969 |
+ |
CDS |
Nonsynonymous[Arg1175Gln] |
3578..3578 |
T/C |
rs146721855 |
+ |
CDS |
Synonymous[Leu1180Leu] |
3620..3620 |
G/C |
rs140323624 |
+ |
CDS |
Nonsynonymous[Asp1194His] |
3658..3658 |
C/T |
rs200479386 |
+ |
CDS |
Synonymous[Thr1206Thr] |
3686..3686 |
T/C |
rs2986014 |
+ |
CDS |
Nonsynonymous[Phe1216Leu] |
3760..3760 |
G/A |
rs187041040 |
+ |
CDS |
Synonymous[Val1240Val] |
3768..3768 |
A/G |
rs138842439 |
+ |
CDS |
Nonsynonymous[Asn1243Ser] |
3782..3782 |
G/A |
rs191877975 |
+ |
CDS |
Nonsynonymous[Val1248Ile] |
3844..3844 |
C/T |
rs201079225 |
+ |
CDS |
Synonymous[Ser1268Ser] |
3849..3849 |
C/T |
rs200115454 |
+ |
CDS |
Nonsynonymous[Thr1270Met] |
3892..3892 |
C/T |
rs201159426 |
+ |
CDS |
Synonymous[Tyr1284Tyr] |
3914..3914 |
G/A |
rs73330626 |
+ |
CDS |
Nonsynonymous[Val1292Ile] |
3927..3927 |
C/T |
rs200352557 |
+ |
CDS |
Nonsynonymous[Ser1296Leu] |
3928..3928 |
G/A |
rs199717141 |
+ |
CDS |
Synonymous[Ser1296Ser] |
3934..3934 |
A/G |
rs112018284 |
+ |
CDS |
Synonymous[Arg1298Arg] |
3957..3957 |
C/T |
rs200173780 |
+ |
CDS |
Nonsynonymous[Thr1306Met] |
4030..4030 |
T/C |
rs41287498 |
+ |
CDS |
Synonymous[Tyr1330Tyr] |
4033..4033 |
A/T |
rs199766677 |
+ |
CDS |
Synonymous[Val1331Val] |
4115..4115 |
C/A |
rs148179205 |
+ |
CDS |
Nonsynonymous[His1359Asn] |
4187..4187 |
C/T |
rs113940597 |
+ |
CDS |
Nonsynonymous[Arg1383Cys] |
4232..4232 |
G/A |
rs141994658 |
+ |
CDS |
Nonsynonymous[Gly1398Arg] |
4253..4253 |
G/A |
rs191321233 |
+ |
CDS |
Nonsynonymous[Val1405Met] |
4397..4397 |
C/T |
rs2274289 |
- |
CDS |
Nonsynonymous[Pro1453Ser] |
4434..4434 |
C/T |
rs147308132 |
+ |
CDS |
Nonsynonymous[Ala1465Val] |
4435..4435 |
G/A |
rs188421204 |
+ |
CDS |
Synonymous[Ala1465Ala] |
4443..4443 |
G/A |
rs140934905 |
+ |
CDS |
Nonsynonymous[Arg1468Gln] |
4450..4450 |
G/A |
rs61751512 |
+ |
CDS |
Synonymous[Gly1470Gly] |
4543..4543 |
C/T |
rs200549783 |
+ |
CDS |
Synonymous[Asp1501Asp] |
4581..4581 |
C/T |
rs145340744 |
+ |
CDS |
Nonsynonymous[Thr1514Met] |
4610..4610 |
A/C |
rs61751513 |
+ |
CDS |
Nonsynonymous[Lys1524Gln] |
4731..4731 |
A/C |
rs201763388 |
+ |
CDS |
Nonsynonymous[Lys1564Thr] |
4770..4770 |
G/C |
rs147379012 |
+ |
CDS |
Nonsynonymous[Arg1577Thr] |
4774..4774 |
G/T |
rs145570020 |
+ |
CDS |
Nonsynonymous[Glu1578Asp] |
4791..4791 |
C/T |
rs149891417 |
+ |
CDS |
Nonsynonymous[Ala1584Val] |
4799..4799 |
G/A |
rs144882489 |
+ |
CDS |
Nonsynonymous[Glu1587Lys] |
4812..4812 |
T/C |
rs201205855 |
+ |
CDS |
Nonsynonymous[Ile1591Thr] |
4846..4846 |
A/G |
rs113278258 |
+ |
CDS |
Synonymous[Pro1602Pro] |
4854..4854 |
C/T |
rs142228884 |
+ |
CDS |
Nonsynonymous[Ala1605Val] |
4869..4869 |
G/T |
rs146747336 |
+ |
CDS |
Nonsynonymous[Arg1610Leu] |
4901..4901 |
C/G |
rs140343384 |
+ |
CDS |
Nonsynonymous[Leu1621Val] |
4938..4938 |
C/T |
rs145409439 |
+ |
CDS |
Nonsynonymous[Thr1633Met] |
4945..4945 |
C/T |
rs146829043 |
+ |
CDS |
Synonymous[Ile1635Ile] |
4955^4956 |
-/A |
rs34994865 |
+ |
CDS |
|
4960..4960 |
C/T |
rs140340054 |
+ |
CDS |
Synonymous[Ala1640Ala] |
4961..4961 |
G/A |
rs140495953 |
+ |
CDS |
Nonsynonymous[Val1641Met] |
5013..5013 |
T/G |
rs199690041 |
+ |
CDS |
Nonsynonymous[Leu1658Arg] |
5048..5048 |
A/G |
rs201355177 |
+ |
CDS |
Nonsynonymous[Met1670Val] |
5049..5049 |
T/C |
rs150410099 |
+ |
CDS |
Nonsynonymous[Met1670Thr] |
5080..5080 |
C/T |
rs148181718 |
+ |
CDS |
Synonymous[Val1680Val] |
5134..5134 |
T/C |
rs142015255 |
+ |
CDS |
Synonymous[Ala1698Ala] |
5250..5250 |
G/A |
rs143185669 |
+ |
CDS |
Nonsynonymous[Arg1737Gln] |
5262..5262 |
C/T |
rs149128563 |
+ |
CDS |
Nonsynonymous[Ala1741Val] |
5277..5277 |
G/A |
rs201517950 |
+ |
CDS |
Nonsynonymous[Arg1746His] |
5278..5278 |
C/T |
rs41302735 |
+ |
CDS |
Synonymous[Arg1746Arg] |
5280..5280 |
T/C |
rs139295407 |
+ |
CDS |
Nonsynonymous[Val1747Ala] |
5340..5340 |
T/C |
rs143219696 |
+ |
CDS |
Nonsynonymous[Phe1767Ser] |
5386..5386 |
C/T |
rs147509976 |
+ |
CDS |
Synonymous[Ala1782Ala] |
5400..5400 |
C/T |
rs145418723 |
+ |
CDS |
Nonsynonymous[Thr1787Met] |
5412..5412 |
A/G |
rs141675532 |
+ |
CDS |
Nonsynonymous[Tyr1791Cys] |
5420..5420 |
C/A |
rs150527836 |
+ |
CDS |
Nonsynonymous[Arg1794Ser] |
5431..5431 |
C/T |
rs139474252 |
+ |
CDS |
Synonymous[Val1797Val] |
5450..5450 |
A/G |
rs143116564 |
+ |
CDS |
Nonsynonymous[Met1804Val] |
5463..5463 |
A/G |
rs146276124 |
+ |
CDS |
Nonsynonymous[His1808Arg] |
5487..5487 |
A/G |
rs139402445 |
+ |
CDS |
Nonsynonymous[Asp1816Gly] |
5507..5507 |
C/- |
rs71660648 |
+ |
CDS |
|
5526..5526 |
A/G |
rs144121362 |
+ |
CDS |
Nonsynonymous[Lys1829Arg] |
5545..5545 |
C/T |
rs144989005 |
+ |
CDS |
Synonymous[Phe1835Phe] |
5549..5549 |
C/T |
rs148963904 |
+ |
CDS |
Nonsynonymous[Arg1837Cys] |
5564..5564 |
G/A |
rs142879219 |
+ |
CDS |
Nonsynonymous[Glu1842Lys] |
5610..5610 |
A/G |
rs151054853 |
+ |
CDS |
Nonsynonymous[Lys1857Arg] |
5619..5619 |
A/C |
rs140936282 |
+ |
CDS |
Nonsynonymous[Glu1860Ala] |
5628..5628 |
A/C |
rs146283066 |
+ |
CDS |
Nonsynonymous[Glu1863Ala] |
5652..5652 |
A/C |
rs7831 |
+ |
CDS |
Nonsynonymous[Asp1871Ala] |