NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp)
|
rs201962257
|
0.00061
|
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)
|
rs142851023
|
0.00061
|
NM_004369.4(COL6A3):c.5839-3C>T
|
rs112825341
|
0.00037
|
NM_004369.4(COL6A3):c.8966-3C>A
|
rs190667494
|
0.00026
|
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)
|
rs114284669
|
0.00021
|
NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met)
|
rs144976132
|
0.00019
|
NM_004369.4(COL6A3):c.6899G>A (p.Gly2300Glu)
|
rs145572916
|
0.00014
|
NM_004369.4(COL6A3):c.6966+4A>C
|
rs373940717
|
0.00014
|
NM_004369.4(COL6A3):c.6868C>T (p.Arg2290Cys)
|
rs116608946
|
0.00013
|
NM_004369.4(COL6A3):c.7670T>A (p.Ile2557Asn)
|
rs146872525
|
0.00013
|
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu)
|
rs150694150
|
0.00012
|
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr)
|
rs142719863
|
0.00010
|
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg)
|
rs370664069
|
0.00009
|
NM_004369.4(COL6A3):c.7375C>T (p.Arg2459Trp)
|
rs371066956
|
0.00009
|
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu)
|
rs144746928
|
0.00008
|
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys)
|
rs111395856
|
0.00008
|
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val)
|
rs145447965
|
0.00007
|
NM_004369.4(COL6A3):c.707C>T (p.Thr236Ile)
|
rs886044270
|
0.00007
|
NM_004369.4(COL6A3):c.3944C>T (p.Ala1315Val)
|
rs778458923
|
0.00006
|
NM_004369.4(COL6A3):c.6470C>T (p.Pro2157Leu)
|
rs372281922
|
0.00006
|
NM_004369.4(COL6A3):c.6930+4C>T
|
rs375657891
|
0.00006
|
NM_004369.4(COL6A3):c.7331G>A (p.Arg2444Gln)
|
rs895701604
|
0.00006
|
NM_004369.4(COL6A3):c.7558A>T (p.Thr2520Ser)
|
rs144152285
|
0.00006
|
NM_004369.4(COL6A3):c.3671C>T (p.Pro1224Leu)
|
rs754323567
|
0.00005
|
NM_004369.4(COL6A3):c.5068G>A (p.Glu1690Lys)
|
rs144451523
|
0.00005
|
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His)
|
rs575412915
|
0.00004
|
NM_004369.4(COL6A3):c.3070+6G>A
|
rs761124398
|
0.00004
|
NM_004369.4(COL6A3):c.3545C>T (p.Pro1182Leu)
|
rs768064422
|
0.00004
|
NM_004369.4(COL6A3):c.3679+5G>T
|
rs138878144
|
0.00004
|
NM_004369.4(COL6A3):c.3741G>C (p.Glu1247Asp)
|
rs577927810
|
0.00004
|
NM_004369.4(COL6A3):c.4411A>C (p.Ser1471Arg)
|
rs150321587
|
0.00004
|
NM_004369.4(COL6A3):c.5344G>A (p.Asp1782Asn)
|
rs762035107
|
0.00004
|
NM_004369.4(COL6A3):c.581A>G (p.Asn194Ser)
|
rs771489087
|
0.00004
|
NM_004369.4(COL6A3):c.6461G>A (p.Arg2154Gln)
|
rs145561490
|
0.00004
|
NM_004369.4(COL6A3):c.8567+2dup
|
rs776144262
|
0.00004
|
NM_004369.4(COL6A3):c.1574C>T (p.Thr525Met)
|
rs755178814
|
0.00003
|
NM_004369.4(COL6A3):c.1751A>G (p.Asn584Ser)
|
rs375285237
|
0.00003
|
NM_004369.4(COL6A3):c.2993C>T (p.Ser998Leu)
|
rs774161895
|
0.00003
|
NM_004369.4(COL6A3):c.3311C>T (p.Pro1104Leu)
|
rs371991808
|
0.00003
|
NM_004369.4(COL6A3):c.3472G>A (p.Gly1158Ser)
|
rs753056634
|
0.00003
|
NM_004369.4(COL6A3):c.3679+4C>T
|
rs774411894
|
0.00003
|
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe)
|
rs144314743
|
0.00003
|
NM_004369.4(COL6A3):c.4964T>C (p.Phe1655Ser)
|
rs747965230
|
0.00003
|
NM_004369.4(COL6A3):c.5095A>C (p.Lys1699Gln)
|
rs1311406995
|
0.00003
|
NM_004369.4(COL6A3):c.5213G>A (p.Arg1738His)
|
rs774808500
|
0.00003
|
NM_004369.4(COL6A3):c.5326G>T (p.Val1776Phe)
|
rs754788931
|
0.00003
|
NM_004369.4(COL6A3):c.6001A>G (p.Met2001Val)
|
rs201539582
|
0.00003
|
NM_004369.4(COL6A3):c.6224C>T (p.Pro2075Leu)
|
rs113331139
|
0.00003
|
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu)
|
rs398124131
|
0.00003
|
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr)
|
rs786205870
|
0.00003
|
NM_004369.4(COL6A3):c.7687G>C (p.Gly2563Arg)
|
rs780964113
|
0.00003
|
NM_004369.4(COL6A3):c.7768A>G (p.Ile2590Val)
|
rs372278071
|
0.00003
|
NM_004369.4(COL6A3):c.1069C>A (p.Pro357Thr)
|
rs1174559820
|
0.00002
|
NM_004369.4(COL6A3):c.1897+3A>G
|
rs369549597
|
0.00002
|
NM_004369.4(COL6A3):c.2804G>A (p.Arg935Gln)
|
rs762016120
|
0.00002
|
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met)
|
rs747082651
|
0.00002
|
NM_004369.4(COL6A3):c.4141A>T (p.Ile1381Phe)
|
rs750951694
|
0.00002
|
NM_004369.4(COL6A3):c.4170G>A (p.Ser1390=)
|
rs770489225
|
0.00002
|
NM_004369.4(COL6A3):c.4180T>C (p.Phe1394Leu)
|
rs746868834
|
0.00002
|
NM_004369.4(COL6A3):c.4339G>A (p.Val1447Ile)
|
rs749556880
|
0.00002
|
NM_004369.4(COL6A3):c.4979G>A (p.Arg1660His)
|
rs982703428
|
0.00002
|
NM_004369.4(COL6A3):c.4994T>C (p.Ile1665Thr)
|
rs1034783532
|
0.00002
|
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val)
|
rs140513454
|
0.00002
|
NM_004369.4(COL6A3):c.5528T>C (p.Phe1843Ser)
|
rs770876436
|
0.00002
|
NM_004369.4(COL6A3):c.592T>G (p.Phe198Val)
|
rs754618002
|
0.00002
|
NM_004369.4(COL6A3):c.6044A>G (p.Tyr2015Cys)
|
rs768330671
|
0.00002
|
NM_004369.4(COL6A3):c.6210C>T (p.Pro2070=)
|
rs774374140
|
0.00002
|
NM_004369.4(COL6A3):c.6352G>T (p.Asp2118Tyr)
|
rs374476448
|
0.00002
|
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser)
|
rs781675126
|
0.00002
|
NM_004369.4(COL6A3):c.6425G>A (p.Arg2142Gln)
|
rs766968738
|
0.00002
|
NM_004369.4(COL6A3):c.7103G>A (p.Gly2368Asp)
|
rs746420745
|
0.00002
|
NM_004369.4(COL6A3):c.7177C>T (p.Pro2393Ser)
|
rs778720252
|
0.00002
|
NM_004369.4(COL6A3):c.7235G>A (p.Gly2412Glu)
|
rs776496050
|
0.00002
|
NM_004369.4(COL6A3):c.8432G>A (p.Arg2811His)
|
rs769656291
|
0.00002
|
NM_004369.4(COL6A3):c.973G>A (p.Ala325Thr)
|
rs905662421
|
0.00002
|
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His)
|
rs140510298
|
0.00001
|
NM_004369.4(COL6A3):c.1045G>A (p.Val349Met)
|
rs1464663206
|
0.00001
|
NM_004369.4(COL6A3):c.1075A>G (p.Ser359Gly)
|
rs114235473
|
0.00001
|
NM_004369.4(COL6A3):c.1147G>A (p.Ala383Thr)
|
rs146429448
|
0.00001
|
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)
|
rs181264679
|
0.00001
|
NM_004369.4(COL6A3):c.1380C>G (p.Asn460Lys)
|
rs779588195
|
0.00001
|
NM_004369.4(COL6A3):c.1502C>T (p.Thr501Ile)
|
rs776324215
|
0.00001
|
NM_004369.4(COL6A3):c.1534G>A (p.Val512Met)
|
rs1386395959
|
0.00001
|
NM_004369.4(COL6A3):c.154G>A (p.Glu52Lys)
|
rs188510971
|
0.00001
|
NM_004369.4(COL6A3):c.1559G>C (p.Gly520Ala)
|
rs770496206
|
0.00001
|
NM_004369.4(COL6A3):c.1570T>C (p.Tyr524His)
|
rs993649247
|
0.00001
|
NM_004369.4(COL6A3):c.1576G>A (p.Gly526Ser)
|
rs780262157
|
0.00001
|
NM_004369.4(COL6A3):c.1583C>T (p.Ala528Val)
|
rs756181209
|
0.00001
|
NM_004369.4(COL6A3):c.1627T>C (p.Tyr543His)
|
rs539057609
|
0.00001
|
NM_004369.4(COL6A3):c.1639G>A (p.Glu547Lys)
|
rs1278327904
|
0.00001
|
NM_004369.4(COL6A3):c.163T>G (p.Phe55Val)
|
rs753189030
|
0.00001
|
NM_004369.4(COL6A3):c.1669A>G (p.Thr557Ala)
|
rs1362702190
|
0.00001
|
NM_004369.4(COL6A3):c.1759G>T (p.Ala587Ser)
|
rs2077990679
|
0.00001
|
NM_004369.4(COL6A3):c.1762G>A (p.Asp588Asn)
|
rs886043408
|
0.00001
|
NM_004369.4(COL6A3):c.1897+6G>A
|
rs1189511183
|
0.00001
|
NM_004369.4(COL6A3):c.2071T>C (p.Phe691Leu)
|
rs1347014329
|
0.00001
|
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile)
|
rs755052076
|
0.00001
|
NM_004369.4(COL6A3):c.2260C>A (p.Gln754Lys)
|
rs763798987
|
0.00001
|
NM_004369.4(COL6A3):c.2284G>A (p.Ala762Thr)
|
rs759150949
|
0.00001
|
NM_004369.4(COL6A3):c.2360A>G (p.Glu787Gly)
|
rs773202559
|
0.00001
|
NM_004369.4(COL6A3):c.2378C>T (p.Pro793Leu)
|
rs747957874
|
0.00001
|
NM_004369.4(COL6A3):c.2397G>A (p.Met799Ile)
|
rs768905903
|
0.00001
|
NM_004369.4(COL6A3):c.260C>G (p.Pro87Arg)
|
rs200887514
|
0.00001
|
NM_004369.4(COL6A3):c.2627C>T (p.Ala876Val)
|
rs771091001
|
0.00001
|
NM_004369.4(COL6A3):c.2633C>G (p.Ala878Gly)
|
rs1326943912
|
0.00001
|
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys)
|
rs201327438
|
0.00001
|
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys)
|
rs760380736
|
0.00001
|
NM_004369.4(COL6A3):c.2722A>T (p.Ile908Phe)
|
rs1370199768
|
0.00001
|
NM_004369.4(COL6A3):c.2732G>A (p.Gly911Asp)
|
rs149310819
|
0.00001
|
NM_004369.4(COL6A3):c.2821C>T (p.Leu941Phe)
|
rs1441141878
|
0.00001
|
NM_004369.4(COL6A3):c.2822T>C (p.Leu941Pro)
|
rs1339733240
|
0.00001
|
NM_004369.4(COL6A3):c.2895G>T (p.Gln965His)
|
rs775993027
|
0.00001
|
NM_004369.4(COL6A3):c.2908C>T (p.Pro970Ser)
|
rs1226873582
|
0.00001
|
NM_004369.4(COL6A3):c.3053A>G (p.Asn1018Ser)
|
rs375167315
|
0.00001
|
NM_004369.4(COL6A3):c.3067C>T (p.Pro1023Ser)
|
rs556864605
|
0.00001
|
NM_004369.4(COL6A3):c.3115G>A (p.Gly1039Ser)
|
rs1465296993
|
0.00001
|
NM_004369.4(COL6A3):c.3127G>A (p.Gly1043Ser)
|
rs748313591
|
0.00001
|
NM_004369.4(COL6A3):c.3197G>A (p.Arg1066His)
|
rs768971873
|
0.00001
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
NM_004369.4(COL6A3):c.322A>G (p.Asn108Asp)
|
rs2078395425
|
0.00001
|
NM_004369.4(COL6A3):c.3238T>A (p.Phe1080Ile)
|
rs761490778
|
0.00001
|
NM_004369.4(COL6A3):c.3257T>A (p.Met1086Lys)
|
rs1425555208
|
0.00001
|
NM_004369.4(COL6A3):c.3272T>A (p.Val1091Asp)
|
rs745854120
|
0.00001
|
NM_004369.4(COL6A3):c.3319A>G (p.Asn1107Asp)
|
rs1574710031
|
0.00001
|
NM_004369.4(COL6A3):c.3392G>A (p.Gly1131Asp)
|
rs769494656
|
0.00001
|
NM_004369.4(COL6A3):c.3409A>T (p.Ile1137Phe)
|
rs2077785777
|
0.00001
|
NM_004369.4(COL6A3):c.3424G>A (p.Asp1142Asn)
|
rs777599612
|
0.00001
|
NM_004369.4(COL6A3):c.3569C>A (p.Thr1190Asn)
|
rs369994205
|
0.00001
|
NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile)
|
rs949598599
|
0.00001
|
NM_004369.4(COL6A3):c.3619C>A (p.Gln1207Lys)
|
rs886042393
|
0.00001
|
NM_004369.4(COL6A3):c.3685G>A (p.Gly1229Ser)
|
rs1321693848
|
0.00001
|
NM_004369.4(COL6A3):c.3715G>A (p.Asp1239Asn)
|
rs563617159
|
0.00001
|
NM_004369.4(COL6A3):c.3809G>A (p.Arg1270Gln)
|
rs1057518127
|
0.00001
|
NM_004369.4(COL6A3):c.3837C>A (p.Asp1279Glu)
|
rs372089952
|
0.00001
|
NM_004369.4(COL6A3):c.3859A>T (p.Asn1287Tyr)
|
rs35799634
|
0.00001
|
NM_004369.4(COL6A3):c.4070T>C (p.Val1357Ala)
|
rs1480888719
|
0.00001
|
NM_004369.4(COL6A3):c.416G>T (p.Gly139Val)
|
rs780669785
|
0.00001
|
NM_004369.4(COL6A3):c.4199T>A (p.Leu1400Gln)
|
rs1210132500
|
0.00001
|
NM_004369.4(COL6A3):c.4306G>C (p.Asp1436His)
|
rs1168273415
|
0.00001
|
NM_004369.4(COL6A3):c.4604G>A (p.Arg1535His)
|
rs115765346
|
0.00001
|
NM_004369.4(COL6A3):c.4795T>C (p.Phe1599Leu)
|
rs911848582
|
0.00001
|
NM_004369.4(COL6A3):c.4819G>A (p.Glu1607Lys)
|
rs1386145634
|
0.00001
|
NM_004369.4(COL6A3):c.4823G>A (p.Arg1608Lys)
|
rs931661932
|
0.00001
|
NM_004369.4(COL6A3):c.5003C>T (p.Thr1668Ile)
|
rs1341078916
|
0.00001
|
NM_004369.4(COL6A3):c.503C>T (p.Ala168Val)
|
rs757496683
|
0.00001
|
NM_004369.4(COL6A3):c.5045A>G (p.Gln1682Arg)
|
rs1026210962
|
0.00001
|
NM_004369.4(COL6A3):c.5113G>A (p.Ala1705Thr)
|
rs886042488
|
0.00001
|
NM_004369.4(COL6A3):c.5138G>A (p.Gly1713Glu)
|
rs779425587
|
0.00001
|
NM_004369.4(COL6A3):c.5143A>G (p.Arg1715Gly)
|
rs1365983591
|
0.00001
|
NM_004369.4(COL6A3):c.514G>A (p.Val172Met)
|
rs1270503233
|
0.00001
|
NM_004369.4(COL6A3):c.5182G>A (p.Val1728Ile)
|
rs772640905
|
0.00001
|
NM_004369.4(COL6A3):c.5222A>T (p.Gln1741Leu)
|
rs769177221
|
0.00001
|
NM_004369.4(COL6A3):c.5253G>A (p.Thr1751=)
|
rs886043174
|
0.00001
|
NM_004369.4(COL6A3):c.5264C>T (p.Ser1755Leu)
|
rs764975992
|
0.00001
|
NM_004369.4(COL6A3):c.5330G>T (p.Gly1777Val)
|
rs1477823319
|
0.00001
|
NM_004369.4(COL6A3):c.5339A>G (p.Asn1780Ser)
|
rs750040219
|
0.00001
|
NM_004369.4(COL6A3):c.5392C>T (p.Arg1798Cys)
|
rs886044508
|
0.00001
|
NM_004369.4(COL6A3):c.5432A>G (p.Gln1811Arg)
|
rs751626953
|
0.00001
|
NM_004369.4(COL6A3):c.5461C>T (p.His1821Tyr)
|
rs2077562058
|
0.00001
|
NM_004369.4(COL6A3):c.5534G>T (p.Gly1845Val)
|
rs747200439
|
0.00001
|
NM_004369.4(COL6A3):c.5542G>A (p.Asp1848Asn)
|
rs78904746
|
0.00001
|
NM_004369.4(COL6A3):c.5642G>A (p.Arg1881His)
|
rs748330667
|
0.00001
|
NM_004369.4(COL6A3):c.5666T>A (p.Val1889Glu)
|
rs1423516861
|
0.00001
|
NM_004369.4(COL6A3):c.5684C>T (p.Ser1895Leu)
|
rs760532694
|
0.00001
|
NM_004369.4(COL6A3):c.5748C>A (p.Asn1916Lys)
|
rs1159000538
|
0.00001
|
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu)
|
rs563800854
|
0.00001
|
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met)
|
rs763172498
|
0.00001
|
NM_004369.4(COL6A3):c.5824C>G (p.Pro1942Ala)
|
rs1293700251
|
0.00001
|
NM_004369.4(COL6A3):c.5993G>A (p.Arg1998Gln)
|
rs767725940
|
0.00001
|
NM_004369.4(COL6A3):c.6005A>T (p.Tyr2002Phe)
|
rs763429012
|
0.00001
|
NM_004369.4(COL6A3):c.6054G>A (p.Ala2018=)
|
rs367696163
|
0.00001
|
NM_004369.4(COL6A3):c.6127C>T (p.Arg2043Cys)
|
rs1001689383
|
0.00001
|
NM_004369.4(COL6A3):c.6156+5G>A
|
rs112374074
|
0.00001
|
NM_004369.4(COL6A3):c.6201G>C (p.Glu2067Asp)
|
rs765647487
|
0.00001
|
NM_004369.4(COL6A3):c.6211-9del
|
rs1280994015
|
0.00001
|
NM_004369.4(COL6A3):c.6242C>G (p.Thr2081Ser)
|
rs1364892747
|
0.00001
|
NM_004369.4(COL6A3):c.6469C>G (p.Pro2157Ala)
|
rs746104217
|
0.00001
|
NM_004369.4(COL6A3):c.6471G>A (p.Pro2157=)
|
rs1349524156
|
0.00001
|
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser)
|
rs766458058
|
0.00001
|
NM_004369.4(COL6A3):c.6545C>T (p.Pro2182Leu)
|
rs761812649
|
0.00001
|
NM_004369.4(COL6A3):c.6592-3C>T
|
rs760143724
|
0.00001
|
NM_004369.4(COL6A3):c.6592G>A (p.Gly2198Ser)
|
rs1257553370
|
0.00001
|
NM_004369.4(COL6A3):c.6677C>T (p.Thr2226Ile)
|
rs376621780
|
0.00001
|
NM_004369.4(COL6A3):c.6691-3C>T
|
rs757686067
|
0.00001
|
NM_004369.4(COL6A3):c.675G>C (p.Arg225Ser)
|
rs1330724943
|
0.00001
|
NM_004369.4(COL6A3):c.6799G>A (p.Gly2267Ser)
|
rs749855513
|
0.00001
|
NM_004369.4(COL6A3):c.6833C>T (p.Pro2278Leu)
|
rs773775745
|
0.00001
|
NM_004369.4(COL6A3):c.6838C>A (p.Pro2280Thr)
|
rs779359869
|
0.00001
|
NM_004369.4(COL6A3):c.6860G>A (p.Arg2287Gln)
|
rs777794580
|
0.00001
|
NM_004369.4(COL6A3):c.6878C>T (p.Thr2293Met)
|
rs759657526
|
0.00001
|
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala)
|
rs886043576
|
0.00001
|
NM_004369.4(COL6A3):c.6920G>C (p.Arg2307Thr)
|
rs778845754
|
0.00001
|
NM_004369.4(COL6A3):c.6934G>A (p.Glu2312Lys)
|
rs1282952198
|
0.00001
|
NM_004369.4(COL6A3):c.6973C>T (p.Pro2325Ser)
|
rs886044392
|
0.00001
|
NM_004369.4(COL6A3):c.6979G>A (p.Glu2327Lys)
|
rs1435064229
|
0.00001
|
NM_004369.4(COL6A3):c.7029+3A>G
|
rs886044464
|
0.00001
|
NM_004369.4(COL6A3):c.7031G>A (p.Gly2344Glu)
|
rs367725413
|
0.00001
|
NM_004369.4(COL6A3):c.704T>C (p.Ile235Thr)
|
rs886043065
|
0.00001
|
NM_004369.4(COL6A3):c.709+4A>G
|
rs1458579992
|
0.00001
|
NM_004369.4(COL6A3):c.709+8C>T
|
rs779535244
|
0.00001
|
NM_004369.4(COL6A3):c.7123G>A (p.Asp2375Asn)
|
rs778371231
|
0.00001
|
NM_004369.4(COL6A3):c.7224C>G (p.Asp2408Glu)
|
rs377084627
|
0.00001
|
NM_004369.4(COL6A3):c.7265G>A (p.Arg2422Gln)
|
rs748029252
|
0.00001
|
NM_004369.4(COL6A3):c.7282A>G (p.Ile2428Val)
|
rs1462967965
|
0.00001
|
NM_004369.4(COL6A3):c.7290T>G (p.Asn2430Lys)
|
rs900113844
|
0.00001
|
NM_004369.4(COL6A3):c.7311C>G (p.Ser2437Arg)
|
rs781087176
|
0.00001
|
NM_004369.4(COL6A3):c.7364C>A (p.Thr2455Asn)
|
rs1269973980
|
0.00001
|
NM_004369.4(COL6A3):c.7367C>T (p.Thr2456Met)
|
rs747074064
|
0.00001
|
NM_004369.4(COL6A3):c.7391A>G (p.Lys2464Arg)
|
rs1445471566
|
0.00001
|
NM_004369.4(COL6A3):c.7477T>C (p.Phe2493Leu)
|
rs756868798
|
0.00001
|
NM_004369.4(COL6A3):c.7514G>T (p.Gly2505Val)
|
rs794727591
|
0.00001
|
NM_004369.4(COL6A3):c.7676A>G (p.Asn2559Ser)
|
rs1009561726
|
0.00001
|
NM_004369.4(COL6A3):c.7691A>T (p.His2564Leu)
|
rs886055804
|
0.00001
|
NM_004369.4(COL6A3):c.779T>C (p.Val260Ala)
|
rs767993846
|
0.00001
|
NM_004369.4(COL6A3):c.7855G>A (p.Asp2619Asn)
|
rs756654349
|
0.00001
|
NM_004369.4(COL6A3):c.7976A>G (p.Gln2659Arg)
|
rs886044041
|
0.00001
|
NM_004369.4(COL6A3):c.802C>T (p.Leu268Phe)
|
rs572430889
|
0.00001
|
NM_004369.4(COL6A3):c.8122C>G (p.Gln2708Glu)
|
rs778195223
|
0.00001
|
NM_004369.4(COL6A3):c.8155A>G (p.Ile2719Val)
|
rs762902561
|
0.00001
|
NM_004369.4(COL6A3):c.8209A>C (p.Lys2737Gln)
|
rs111764507
|
0.00001
|
NM_004369.4(COL6A3):c.8212A>T (p.Ile2738Phe)
|
rs141344389
|
0.00001
|
NM_004369.4(COL6A3):c.8263G>A (p.Ala2755Thr)
|
rs775790310
|
0.00001
|
NM_004369.4(COL6A3):c.8290T>G (p.Cys2764Gly)
|
rs779036168
|
0.00001
|
NM_004369.4(COL6A3):c.8310G>A (p.Val2770=)
|
rs766217603
|
0.00001
|
NM_004369.4(COL6A3):c.8375A>G (p.Asp2792Gly)
|
rs886044347
|
0.00001
|
NM_004369.4(COL6A3):c.8422C>T (p.Pro2808Ser)
|
rs1335582737
|
0.00001
|
NM_004369.4(COL6A3):c.8431C>T (p.Arg2811Cys)
|
rs371361651
|
0.00001
|
NM_004369.4(COL6A3):c.8437G>A (p.Gly2813Arg)
|
rs146131332
|
0.00001
|
NM_004369.4(COL6A3):c.8498G>A (p.Arg2833Lys)
|
rs755510736
|
0.00001
|
NM_004369.4(COL6A3):c.8522G>A (p.Gly2841Glu)
|
rs1296360526
|
0.00001
|
NM_004369.4(COL6A3):c.8807T>C (p.Val2936Ala)
|
rs1218467207
|
0.00001
|
NM_004369.4(COL6A3):c.8861C>T (p.Pro2954Leu)
|
rs766551222
|
0.00001
|
NM_004369.4(COL6A3):c.8966-6T>C
|
rs756239147
|
0.00001
|
NM_004369.4(COL6A3):c.9082C>T (p.His3028Tyr)
|
rs745651769
|
0.00001
|
NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg)
|
rs1370564126
|
0.00001
|
NM_004369.4(COL6A3):c.9229+4A>C
|
rs749872311
|
0.00001
|
NM_004369.4(COL6A3):c.9248C>A (p.Pro3083His)
|
rs760496428
|
0.00001
|
NM_004369.4(COL6A3):c.9250C>T (p.Pro3084Ser)
|
rs1468004640
|
0.00001
|
NM_004369.4(COL6A3):c.9290T>C (p.Leu3097Pro)
|
rs886042363
|
0.00001
|
NM_004369.4(COL6A3):c.98A>G (p.Lys33Arg)
|
rs781141962
|
0.00001
|
NC_000002.11:g.(?_238233407)_(238305470_?)dup
|
|
|
NC_000002.11:g.(?_238242073)_(238243552_?)del
|
|
|
NC_000002.11:g.(?_238272973)_(238281000_?)del
|
|
|
NC_000002.11:g.(?_238289548)_(238296837_?)del
|
|
|
NC_000002.12:g.(?_237333450)_(237334889_?)del
|
|
|
NM_004369.3(COL6A3):c.[6064-5G>A];[6859delC]
|
|
|
NM_004369.4(COL6A3):c.1004C>G (p.Thr335Ser)
|
|
|
NM_004369.4(COL6A3):c.1019G>A (p.Ser340Asn)
|
rs2106378691
|
|
NM_004369.4(COL6A3):c.1029G>C (p.Glu343Asp)
|
|
|
NM_004369.4(COL6A3):c.1035G>T (p.Gly345=)
|
rs886044426
|
|
NM_004369.4(COL6A3):c.1039C>G (p.Pro347Ala)
|
|
|
NM_004369.4(COL6A3):c.1067G>A (p.Gly356Glu)
|
rs2106378611
|
|
NM_004369.4(COL6A3):c.1080C>A (p.Asp360Glu)
|
|
|
NM_004369.4(COL6A3):c.1081G>A (p.Glu361Lys)
|
|
|
NM_004369.4(COL6A3):c.1102_1103delinsAT (p.Ala368Ile)
|
rs2106378544
|
|
NM_004369.4(COL6A3):c.1131C>G (p.Phe377Leu)
|
rs189772397
|
|
NM_004369.4(COL6A3):c.1139G>C (p.Gly380Ala)
|
|
|
NM_004369.4(COL6A3):c.116A>G (p.Asp39Gly)
|
rs2106388893
|
|
NM_004369.4(COL6A3):c.1171C>T (p.His391Tyr)
|
|
|
NM_004369.4(COL6A3):c.1174A>G (p.Ile392Val)
|
|
|
NM_004369.4(COL6A3):c.1186G>A (p.Asp396Asn)
|
rs372071064
|
|
NM_004369.4(COL6A3):c.1187A>G (p.Asp396Gly)
|
rs1051157564
|
|
NM_004369.4(COL6A3):c.118ATA[1] (p.Ile41del)
|
rs886042334
|
|
NM_004369.4(COL6A3):c.1194G>C (p.Leu398Phe)
|
rs2078180823
|
|
NM_004369.4(COL6A3):c.1204G>C (p.Val402Leu)
|
rs746277006
|
|
NM_004369.4(COL6A3):c.120A>G (p.Ile40Met)
|
|
|
NM_004369.4(COL6A3):c.1225G>A (p.Gly409Arg)
|
|
|
NM_004369.4(COL6A3):c.1228G>T (p.Asp410Tyr)
|
|
|
NM_004369.4(COL6A3):c.124T>G (p.Phe42Val)
|
rs1559280207
|
|
NM_004369.4(COL6A3):c.1286T>C (p.Leu429Ser)
|
rs2078177097
|
|
NM_004369.4(COL6A3):c.1287G>T (p.Leu429Phe)
|
rs2078177026
|
|
NM_004369.4(COL6A3):c.1288A>G (p.Lys430Glu)
|
|
|
NM_004369.4(COL6A3):c.1298C>T (p.Thr433Ile)
|
rs2106378142
|
|
NM_004369.4(COL6A3):c.1303G>T (p.Val435Phe)
|
rs2078176426
|
|
NM_004369.4(COL6A3):c.1316T>C (p.Ile439Thr)
|
rs2106370456
|
|
NM_004369.4(COL6A3):c.1355G>A (p.Gly452Asp)
|
rs777078456
|
|
NM_004369.4(COL6A3):c.136T>G (p.Ser46Ala)
|
|
|
NM_004369.4(COL6A3):c.1388C>T (p.Ala463Val)
|
rs2106370357
|
|
NM_004369.4(COL6A3):c.1390A>G (p.Ile464Val)
|
|
|
NM_004369.4(COL6A3):c.1435C>A (p.Gln479Lys)
|
|
|
NM_004369.4(COL6A3):c.1439A>G (p.Asp480Gly)
|
rs2078001580
|
|
NM_004369.4(COL6A3):c.144G>C (p.Trp48Cys)
|
|
|
NM_004369.4(COL6A3):c.1472A>T (p.Asp491Val)
|
rs2106370266
|
|
NM_004369.4(COL6A3):c.1476_1477inv (p.Val493Met)
|
|
|
NM_004369.4(COL6A3):c.1483C>A (p.Pro495Thr)
|
|
|
NM_004369.4(COL6A3):c.1492T>C (p.Tyr498His)
|
rs2077999753
|
|
NM_004369.4(COL6A3):c.1507C>A (p.Pro503Thr)
|
|
|
NM_004369.4(COL6A3):c.1526T>C (p.Ile509Thr)
|
rs2077998366
|
|
NM_004369.4(COL6A3):c.1531G>T (p.Ala511Ser)
|
rs775165275
|
|
NM_004369.4(COL6A3):c.1540A>G (p.Lys514Glu)
|
|
|
NM_004369.4(COL6A3):c.1568T>C (p.Leu523Pro)
|
|
|
NM_004369.4(COL6A3):c.1580C>G (p.Ser527Cys)
|
|
|
NM_004369.4(COL6A3):c.1582G>A (p.Ala528Thr)
|
|
|
NM_004369.4(COL6A3):c.1583C>G (p.Ala528Gly)
|
|
|
NM_004369.4(COL6A3):c.1604A>T (p.Asn535Ile)
|
|
|
NM_004369.4(COL6A3):c.161A>G (p.His54Arg)
|
|
|
NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp)
|
|
|
NM_004369.4(COL6A3):c.1688A>T (p.Asp563Val)
|
|
|
NM_004369.4(COL6A3):c.169C>G (p.Leu57Val)
|
rs765665120
|
|
NM_004369.4(COL6A3):c.1705G>T (p.Ala569Ser)
|
|
|
NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr)
|
rs1574725167
|
|
NM_004369.4(COL6A3):c.1740T>G (p.Phe580Leu)
|
rs1553562483
|
|
NM_004369.4(COL6A3):c.1755G>T (p.Lys585Asn)
|
|
|
NM_004369.4(COL6A3):c.176G>A (p.Arg59Gln)
|
|
|
NM_004369.4(COL6A3):c.1777G>A (p.Glu593Lys)
|
|
|
NM_004369.4(COL6A3):c.1780G>A (p.Glu594Lys)
|
|
|
NM_004369.4(COL6A3):c.1795_1796delinsAT (p.Ser599Ile)
|
rs886043319
|
|
NM_004369.4(COL6A3):c.1804G>T (p.Val602Leu)
|
rs2106369723
|
|
NM_004369.4(COL6A3):c.1816G>C (p.Ala606Pro)
|
|
|
NM_004369.4(COL6A3):c.188A>G (p.Tyr63Cys)
|
rs886043105
|
|
NM_004369.4(COL6A3):c.1900C>T (p.His634Tyr)
|
rs769257731
|
|
NM_004369.4(COL6A3):c.1901A>G (p.His634Arg)
|
|
|
NM_004369.4(COL6A3):c.1908C>G (p.Asn636Lys)
|
|
|
NM_004369.4(COL6A3):c.1915G>A (p.Asp639Asn)
|
rs1181696188
|
|
NM_004369.4(COL6A3):c.191A>C (p.Asp64Ala)
|
rs768274647
|
|
NM_004369.4(COL6A3):c.1922T>C (p.Ile641Thr)
|
|
|
NM_004369.4(COL6A3):c.1947C>A (p.Asn649Lys)
|
|
|
NM_004369.4(COL6A3):c.1948G>T (p.Val650Phe)
|
|
|
NM_004369.4(COL6A3):c.1984G>A (p.Val662Ile)
|
|
|
NM_004369.4(COL6A3):c.1989G>C (p.Met663Ile)
|
|
|
NM_004369.4(COL6A3):c.2000A>G (p.Asn667Ser)
|
rs746265516
|
|
NM_004369.4(COL6A3):c.2002A>G (p.Ser668Gly)
|
|
|
NM_004369.4(COL6A3):c.2018A>G (p.Asn673Ser)
|
|
|
NM_004369.4(COL6A3):c.2029C>A (p.Arg677Ser)
|
|
|
NM_004369.4(COL6A3):c.202T>G (p.Ser68Ala)
|
|
|
NM_004369.4(COL6A3):c.2030G>T (p.Arg677Leu)
|
rs35227432
|
|
NM_004369.4(COL6A3):c.2036G>A (p.Gly679Asp)
|
rs1325552568
|
|
NM_004369.4(COL6A3):c.2042T>G (p.Val681Gly)
|
rs753741086
|
|
NM_004369.4(COL6A3):c.2060C>T (p.Pro687Leu)
|
rs2106367262
|
|
NM_004369.4(COL6A3):c.2066C>A (p.Thr689Lys)
|
|
|
NM_004369.4(COL6A3):c.2069A>G (p.Glu690Gly)
|
rs2106367237
|
|
NM_004369.4(COL6A3):c.2084C>T (p.Thr695Ile)
|
|
|
NM_004369.4(COL6A3):c.2099C>T (p.Ser700Leu)
|
|
|
NM_004369.4(COL6A3):c.2108T>G (p.Leu703Arg)
|
|
|
NM_004369.4(COL6A3):c.2128C>A (p.Gln710Lys)
|
rs2106367135
|
|
NM_004369.4(COL6A3):c.2131C>G (p.Leu711Val)
|
rs2106367128
|
|
NM_004369.4(COL6A3):c.2183C>T (p.Ala728Val)
|
|
|
NM_004369.4(COL6A3):c.2185A>G (p.Asn729Asp)
|
|
|
NM_004369.4(COL6A3):c.218A>G (p.Glu73Gly)
|
rs138570455
|
|
NM_004369.4(COL6A3):c.2195C>A (p.Thr732Lys)
|
rs370719148
|
|
NM_004369.4(COL6A3):c.2214G>T (p.Arg738Ser)
|
rs1410013839
|
|
NM_004369.4(COL6A3):c.2287G>A (p.Ala763Thr)
|
|
|
NM_004369.4(COL6A3):c.2292C>A (p.Asn764Lys)
|
|
|
NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly)
|
rs200722892
|
|
NM_004369.4(COL6A3):c.2303G>C (p.Arg768Pro)
|
|
|
NM_004369.4(COL6A3):c.2353G>C (p.Glu785Gln)
|
rs776048975
|
|
NM_004369.4(COL6A3):c.2356C>T (p.Leu786Phe)
|
|
|
NM_004369.4(COL6A3):c.2365A>T (p.Ile789Phe)
|
|
|
NM_004369.4(COL6A3):c.2374A>G (p.Asn792Asp)
|
rs1574719707
|
|
NM_004369.4(COL6A3):c.238C>G (p.Leu80Val)
|
rs777869450
|
|
NM_004369.4(COL6A3):c.2393T>C (p.Leu798Pro)
|
rs939675343
|
|
NM_004369.4(COL6A3):c.2407A>G (p.Ser803Gly)
|
|
|
NM_004369.4(COL6A3):c.2416C>T (p.Pro806Ser)
|
rs1574719546
|
|
NM_004369.4(COL6A3):c.2422T>G (p.Leu808Val)
|
|
|
NM_004369.4(COL6A3):c.2452A>G (p.Thr818Ala)
|
rs2106366553
|
|
NM_004369.4(COL6A3):c.245A>G (p.Gln82Arg)
|
|
|
NM_004369.4(COL6A3):c.2468G>T (p.Gly823Val)
|
|
|
NM_004369.4(COL6A3):c.2495C>T (p.Pro832Leu)
|
|
|
NM_004369.4(COL6A3):c.2497+20G>A
|
|
|
NM_004369.4(COL6A3):c.2497+3A>T
|
|
|
NM_004369.4(COL6A3):c.2497+4_2497+9del
|
|
|
NM_004369.4(COL6A3):c.2501G>A (p.Ser834Asn)
|
|
|
NM_004369.4(COL6A3):c.2502C>G (p.Ser834Arg)
|
rs767437328
|
|
NM_004369.4(COL6A3):c.2533T>A (p.Ser845Thr)
|
|
|
NM_004369.4(COL6A3):c.2546T>A (p.Val849Glu)
|
rs1574716769
|
|
NM_004369.4(COL6A3):c.2570A>G (p.Asp857Gly)
|
rs2077873907
|
|
NM_004369.4(COL6A3):c.2575C>G (p.Leu859Val)
|
rs570233756
|
|
NM_004369.4(COL6A3):c.2575C>T (p.Leu859Phe)
|
|
|
NM_004369.4(COL6A3):c.2579A>G (p.Tyr860Cys)
|
rs2106364778
|
|
NM_004369.4(COL6A3):c.2596C>T (p.Leu866Phe)
|
|
|
NM_004369.4(COL6A3):c.2605A>C (p.Lys869Gln)
|
|
|
NM_004369.4(COL6A3):c.2608C>T (p.Pro870Ser)
|
|
|
NM_004369.4(COL6A3):c.2621G>A (p.Arg874Gln)
|
|
|
NM_004369.4(COL6A3):c.2644G>A (p.Asp882Asn)
|
|
|
NM_004369.4(COL6A3):c.2644G>T (p.Asp882Tyr)
|
|
|
NM_004369.4(COL6A3):c.2663C>G (p.Ser888Cys)
|
rs780855121
|
|
NM_004369.4(COL6A3):c.2671G>C (p.Asp891His)
|
|
|
NM_004369.4(COL6A3):c.2685T>G (p.Ser895Arg)
|
|
|
NM_004369.4(COL6A3):c.2698C>G (p.Leu900Val)
|
rs2077868769
|
|
NM_004369.4(COL6A3):c.2707G>A (p.Val903Met)
|
rs890279367
|
|
NM_004369.4(COL6A3):c.2717T>A (p.Met906Lys)
|
rs2077868316
|
|
NM_004369.4(COL6A3):c.2729C>A (p.Thr910Lys)
|
rs189356869
|
|
NM_004369.4(COL6A3):c.2750G>A (p.Gly917Asp)
|
rs2106364518
|
|
NM_004369.4(COL6A3):c.275T>C (p.Leu92Pro)
|
|
|
NM_004369.4(COL6A3):c.2774G>T (p.Arg925Met)
|
|
|
NM_004369.4(COL6A3):c.2777A>G (p.Tyr926Cys)
|
|
|
NM_004369.4(COL6A3):c.2863C>T (p.Arg955Cys)
|
rs886043736
|
|
NM_004369.4(COL6A3):c.2897G>T (p.Ser966Ile)
|
|
|
NM_004369.4(COL6A3):c.2899G>A (p.Gly967Arg)
|
|
|
NM_004369.4(COL6A3):c.2908C>G (p.Pro970Ala)
|
rs1226873582
|
|
NM_004369.4(COL6A3):c.2926A>C (p.Lys976Gln)
|
|
|
NM_004369.4(COL6A3):c.292A>G (p.Thr98Ala)
|
|
|
NM_004369.4(COL6A3):c.2932G>T (p.Ala978Ser)
|
rs768292803
|
|
NM_004369.4(COL6A3):c.2945A>C (p.Glu982Ala)
|
rs2077857997
|
|
NM_004369.4(COL6A3):c.2951A>G (p.Glu984Gly)
|
|
|
NM_004369.4(COL6A3):c.2958C>G (p.Ile986Met)
|
rs145203676
|
|
NM_004369.4(COL6A3):c.2978T>C (p.Ile993Thr)
|
rs2077856364
|
|
NM_004369.4(COL6A3):c.3002A>G (p.Lys1001Arg)
|
|
|
NM_004369.4(COL6A3):c.3010G>A (p.Asp1004Asn)
|
rs2106364042
|
|
NM_004369.4(COL6A3):c.3011A>T (p.Asp1004Val)
|
rs1194314017
|
|
NM_004369.4(COL6A3):c.3026T>G (p.Ile1009Arg)
|
|
|
NM_004369.4(COL6A3):c.3040A>C (p.Lys1014Gln)
|
rs114284669
|
|
NM_004369.4(COL6A3):c.3044C>T (p.Ser1015Leu)
|
rs2077853056
|
|
NM_004369.4(COL6A3):c.3051C>G (p.His1017Gln)
|
|
|
NM_004369.4(COL6A3):c.3061C>T (p.Pro1021Ser)
|
rs2077852366
|
|
NM_004369.4(COL6A3):c.3074C>T (p.Ser1025Leu)
|
|
|
NM_004369.4(COL6A3):c.3091G>C (p.Val1031Leu)
|
|
|
NM_004369.4(COL6A3):c.3106G>A (p.Gly1036Ser)
|
|
|
NM_004369.4(COL6A3):c.3109T>C (p.Ser1037Pro)
|
|
|
NM_004369.4(COL6A3):c.3110C>G (p.Ser1037Cys)
|
rs2106361725
|
|
NM_004369.4(COL6A3):c.3112G>A (p.Glu1038Lys)
|
|
|
NM_004369.4(COL6A3):c.3147G>T (p.Glu1049Asp)
|
|
|
NM_004369.4(COL6A3):c.3164T>A (p.Val1055Glu)
|
rs532449385
|
|
NM_004369.4(COL6A3):c.3169A>T (p.Ser1057Cys)
|
rs1553560705
|
|
NM_004369.4(COL6A3):c.3188A>C (p.Asp1063Ala)
|
rs1238550268
|
|
NM_004369.4(COL6A3):c.3274G>C (p.Val1092Leu)
|
|
|
NM_004369.4(COL6A3):c.3275T>C (p.Val1092Ala)
|
|
|
NM_004369.4(COL6A3):c.3280G>T (p.Ala1094Ser)
|
rs369460632
|
|
NM_004369.4(COL6A3):c.3286C>G (p.Arg1096Gly)
|
|
|
NM_004369.4(COL6A3):c.3298C>G (p.Leu1100Val)
|
|
|
NM_004369.4(COL6A3):c.32C>T (p.Ala11Val)
|
|
|
NM_004369.4(COL6A3):c.3304G>A (p.Gly1102Arg)
|
rs2106361380
|
|
NM_004369.4(COL6A3):c.3314C>T (p.Thr1105Ile)
|
|
|
NM_004369.4(COL6A3):c.3325G>A (p.Gly1109Arg)
|
rs752924311
|
|
NM_004369.4(COL6A3):c.3328G>A (p.Ala1110Thr)
|
|
|
NM_004369.4(COL6A3):c.3336G>A (p.Leu1112=)
|
rs1553560545
|
|
NM_004369.4(COL6A3):c.3347T>C (p.Leu1116Pro)
|
|
|
NM_004369.4(COL6A3):c.3357C>G (p.Ile1119Met)
|
rs1574709919
|
|
NM_004369.4(COL6A3):c.3365G>A (p.Ser1122Asn)
|
|
|
NM_004369.4(COL6A3):c.3373G>A (p.Gly1125Arg)
|
rs2106361269
|
|
NM_004369.4(COL6A3):c.3391G>A (p.Gly1131Ser)
|
rs2077786156
|
|
NM_004369.4(COL6A3):c.3403C>G (p.Leu1135Val)
|
rs2077785980
|
|
NM_004369.4(COL6A3):c.3411C>G (p.Ile1137Met)
|
|
|
NM_004369.4(COL6A3):c.3412G>A (p.Val1138Ile)
|
rs199964760
|
|
NM_004369.4(COL6A3):c.3429G>C (p.Arg1143Ser)
|
|
|
NM_004369.4(COL6A3):c.343A>G (p.Thr115Ala)
|
rs2106388440
|
|
NM_004369.4(COL6A3):c.3454T>A (p.Ser1152Thr)
|
rs2106361118
|
|
NM_004369.4(COL6A3):c.3475G>A (p.Gly1159Arg)
|
|
|
NM_004369.4(COL6A3):c.3475G>C (p.Gly1159Arg)
|
rs146313030
|
|
NM_004369.4(COL6A3):c.3479C>T (p.Ala1160Val)
|
|
|
NM_004369.4(COL6A3):c.347A>G (p.Asn116Ser)
|
|
|
NM_004369.4(COL6A3):c.348T>A (p.Asn116Lys)
|
rs2106388428
|
|
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe)
|
rs886042996
|
|
NM_004369.4(COL6A3):c.3501C>G (p.Ile1167Met)
|
|
|
NM_004369.4(COL6A3):c.3525G>A (p.Met1175Ile)
|
|
|
NM_004369.4(COL6A3):c.3530C>T (p.Thr1177Ile)
|
rs2077780771
|
|
NM_004369.4(COL6A3):c.3565C>T (p.Pro1189Ser)
|
|
|
NM_004369.4(COL6A3):c.3566C>A (p.Pro1189His)
|
|
|
NM_004369.4(COL6A3):c.3584G>A (p.Gly1195Glu)
|
|
|
NM_004369.4(COL6A3):c.3611G>C (p.Arg1204Thr)
|
|
|
NM_004369.4(COL6A3):c.362G>T (p.Gly121Val)
|
|
|
NM_004369.4(COL6A3):c.3631G>A (p.Glu1211Lys)
|
rs2077777129
|
|
NM_004369.4(COL6A3):c.3664C>T (p.Pro1222Ser)
|
rs1553560314
|
|
NM_004369.4(COL6A3):c.3679+5G>A
|
|
|
NM_004369.4(COL6A3):c.3680-14C>G
|
|
|
NM_004369.4(COL6A3):c.3696G>T (p.Arg1232Ser)
|
|
|
NM_004369.4(COL6A3):c.3709C>G (p.Leu1237Val)
|
|
|
NM_004369.4(COL6A3):c.3710T>G (p.Leu1237Arg)
|
|
|
NM_004369.4(COL6A3):c.3716A>G (p.Asp1239Gly)
|
rs1190794379
|
|
NM_004369.4(COL6A3):c.3725A>C (p.Gln1242Pro)
|
rs1553559646
|
|
NM_004369.4(COL6A3):c.373A>T (p.Ile125Leu)
|
rs368077444
|
|
NM_004369.4(COL6A3):c.3741G>T (p.Glu1247Asp)
|
|
|
NM_004369.4(COL6A3):c.3758C>A (p.Thr1253Asn)
|
|
|
NM_004369.4(COL6A3):c.3760C>T (p.Leu1254Phe)
|
rs886044373
|
|
NM_004369.4(COL6A3):c.3764T>C (p.Ile1255Thr)
|
|
|
NM_004369.4(COL6A3):c.3768G>C (p.Glu1256Asp)
|
|
|
NM_004369.4(COL6A3):c.3778G>T (p.Asp1260Tyr)
|
|
|
NM_004369.4(COL6A3):c.3779A>G (p.Asp1260Gly)
|
rs773456951
|
|
NM_004369.4(COL6A3):c.3787G>A (p.Asp1263Asn)
|
|
|
NM_004369.4(COL6A3):c.3823C>G (p.Gln1275Glu)
|
rs2077710026
|
|
NM_004369.4(COL6A3):c.3832G>A (p.Asp1278Asn)
|
rs752309834
|
|
NM_004369.4(COL6A3):c.3850T>A (p.Phe1284Ile)
|
rs2077709263
|
|
NM_004369.4(COL6A3):c.386A>G (p.His129Arg)
|
|
|
NM_004369.4(COL6A3):c.3872G>A (p.Ser1291Asn)
|
|
|
NM_004369.4(COL6A3):c.3873C>G (p.Ser1291Arg)
|
|
|
NM_004369.4(COL6A3):c.3873C>T (p.Ser1291=)
|
|
|
NM_004369.4(COL6A3):c.3892G>A (p.Ala1298Thr)
|
|
|
NM_004369.4(COL6A3):c.3895G>A (p.Val1299Met)
|
rs899539198
|
|
NM_004369.4(COL6A3):c.3911C>T (p.Pro1304Leu)
|
|
|
NM_004369.4(COL6A3):c.3913A>G (p.Lys1305Glu)
|
|
|
NM_004369.4(COL6A3):c.3955G>A (p.Val1319Met)
|
|
|
NM_004369.4(COL6A3):c.3989G>T (p.Ser1330Ile)
|
rs779967310
|
|
NM_004369.4(COL6A3):c.3991C>A (p.Arg1331Ser)
|
rs750341446
|
|
NM_004369.4(COL6A3):c.3991C>T (p.Arg1331Cys)
|
rs750341446
|
|
NM_004369.4(COL6A3):c.4004G>C (p.Gly1335Ala)
|
|
|
NM_004369.4(COL6A3):c.400G>A (p.Ala134Thr)
|
|
|
NM_004369.4(COL6A3):c.4010C>T (p.Pro1337Leu)
|
|
|
NM_004369.4(COL6A3):c.403G>A (p.Gly135Arg)
|
|
|
NM_004369.4(COL6A3):c.4041G>T (p.Lys1347Asn)
|
rs781033908
|
|
NM_004369.4(COL6A3):c.4042T>C (p.Ser1348Pro)
|
|
|
NM_004369.4(COL6A3):c.4049A>G (p.Asp1350Gly)
|
|
|
NM_004369.4(COL6A3):c.4060G>C (p.Asp1354His)
|
|
|
NM_004369.4(COL6A3):c.4067C>T (p.Ala1356Val)
|
|
|
NM_004369.4(COL6A3):c.4075C>A (p.Leu1359Ile)
|
rs2077700902
|
|
NM_004369.4(COL6A3):c.4083G>T (p.Gln1361His)
|
rs2106357056
|
|
NM_004369.4(COL6A3):c.4093G>A (p.Ala1365Thr)
|
rs1460462771
|
|
NM_004369.4(COL6A3):c.4094C>T (p.Ala1365Val)
|
|
|
NM_004369.4(COL6A3):c.4108G>A (p.Ala1370Thr)
|
rs372234605
|
|
NM_004369.4(COL6A3):c.4108G>T (p.Ala1370Ser)
|
rs372234605
|
|
NM_004369.4(COL6A3):c.4113G>C (p.Arg1371Ser)
|
|
|
NM_004369.4(COL6A3):c.4150A>G (p.Ser1384Gly)
|
|
|
NM_004369.4(COL6A3):c.4163T>C (p.Val1388Ala)
|
|
|
NM_004369.4(COL6A3):c.416G>A (p.Gly139Asp)
|
rs780669785
|
|
NM_004369.4(COL6A3):c.4234A>T (p.Thr1412Ser)
|
rs764522621
|
|
NM_004369.4(COL6A3):c.4252A>G (p.Lys1418Glu)
|
rs1367588379
|
|
NM_004369.4(COL6A3):c.4252_4254del (p.Lys1418del)
|
rs886043395
|
|
NM_004369.4(COL6A3):c.4253A>G (p.Lys1418Arg)
|
|
|
NM_004369.4(COL6A3):c.4259T>C (p.Leu1420Ser)
|
|
|
NM_004369.4(COL6A3):c.4265G>A (p.Ser1422Asn)
|
|
|
NM_004369.4(COL6A3):c.4285+3G>A
|
|
|
NM_004369.4(COL6A3):c.4286-7T>G
|
|
|
NM_004369.4(COL6A3):c.4296T>A (p.Ser1432Arg)
|
rs2077626425
|
|
NM_004369.4(COL6A3):c.4308C>G (p.Asp1436Glu)
|
rs775286217
|
|
NM_004369.4(COL6A3):c.4309A>C (p.Ile1437Leu)
|
rs144314743
|
|
NM_004369.4(COL6A3):c.4310T>C (p.Ile1437Thr)
|
rs2106353352
|
|
NM_004369.4(COL6A3):c.4311_4312inv (p.Val1438Ile)
|
|
|
NM_004369.4(COL6A3):c.4312G>T (p.Val1438Phe)
|
|
|
NM_004369.4(COL6A3):c.4313T>C (p.Val1438Ala)
|
|
|
NM_004369.4(COL6A3):c.4324G>A (p.Asp1442Asn)
|
rs772700553
|
|
NM_004369.4(COL6A3):c.4363A>G (p.Ile1455Val)
|
rs2077624929
|
|
NM_004369.4(COL6A3):c.4367G>A (p.Arg1456Gln)
|
rs2077624807
|
|
NM_004369.4(COL6A3):c.4382G>A (p.Arg1461Lys)
|
rs2077624444
|
|
NM_004369.4(COL6A3):c.4390C>G (p.Arg1464Gly)
|
|
|
NM_004369.4(COL6A3):c.439G>C (p.Val147Leu)
|
|
|
NM_004369.4(COL6A3):c.4405G>A (p.Gly1469Ser)
|
rs771199614
|
|
NM_004369.4(COL6A3):c.4409C>A (p.Pro1470His)
|
rs2077623565
|
|
NM_004369.4(COL6A3):c.4415A>T (p.Lys1472Ile)
|
|
|
NM_004369.4(COL6A3):c.4417_4418delinsAA (p.Val1473Lys)
|
rs2106353213
|
|
NM_004369.4(COL6A3):c.443T>C (p.Val148Ala)
|
|
|
NM_004369.4(COL6A3):c.4443C>G (p.Ser1481Arg)
|
rs2106353172
|
|
NM_004369.4(COL6A3):c.4445A>G (p.Asn1482Ser)
|
rs2077622262
|
|
NM_004369.4(COL6A3):c.4445A>T (p.Asn1482Ile)
|
rs2077622262
|
|
NM_004369.4(COL6A3):c.4447G>A (p.Asp1483Asn)
|
|
|
NM_004369.4(COL6A3):c.4457C>A (p.Pro1486Gln)
|
|
|
NM_004369.4(COL6A3):c.4496T>G (p.Val1499Gly)
|
|
|
NM_004369.4(COL6A3):c.4503C>A (p.Asp1501Glu)
|
rs115551245
|
|
NM_004369.4(COL6A3):c.4505C>A (p.Ala1502Asp)
|
rs2106353091
|
|
NM_004369.4(COL6A3):c.4505C>T (p.Ala1502Val)
|
|
|
NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu)
|
rs754840728
|
|
NM_004369.4(COL6A3):c.4520G>A (p.Arg1507Lys)
|
rs766158387
|
|
NM_004369.4(COL6A3):c.4520G>T (p.Arg1507Met)
|
rs766158387
|
|
NM_004369.4(COL6A3):c.4528G>A (p.Gly1510Arg)
|
rs1293450770
|
|
NM_004369.4(COL6A3):c.4529G>C (p.Gly1510Ala)
|
|
|
NM_004369.4(COL6A3):c.4535C>T (p.Ser1512Phe)
|
rs1370846981
|
|
NM_004369.4(COL6A3):c.4549G>A (p.Gly1517Ser)
|
|
|
NM_004369.4(COL6A3):c.4555G>A (p.Ala1519Thr)
|
rs2077618678
|
|
NM_004369.4(COL6A3):c.4556C>A (p.Ala1519Asp)
|
|
|
NM_004369.4(COL6A3):c.4565T>C (p.Phe1522Ser)
|
|
|
NM_004369.4(COL6A3):c.4568T>C (p.Val1523Ala)
|
|
|
NM_004369.4(COL6A3):c.4577A>G (p.Asn1526Ser)
|
|
|
NM_004369.4(COL6A3):c.4603C>A (p.Arg1535Ser)
|
|
|
NM_004369.4(COL6A3):c.460T>A (p.Ser154Thr)
|
rs1559279425
|
|
NM_004369.4(COL6A3):c.4613A>C (p.Asp1538Ala)
|
|
|
NM_004369.4(COL6A3):c.461C>G (p.Ser154Trp)
|
|
|
NM_004369.4(COL6A3):c.4667T>A (p.Val1556Glu)
|
rs375207869
|
|
NM_004369.4(COL6A3):c.4684G>T (p.Val1562Leu)
|
rs1553557605
|
|
NM_004369.4(COL6A3):c.4688T>C (p.Ile1563Thr)
|
|
|
NM_004369.4(COL6A3):c.4689C>G (p.Ile1563Met)
|
rs201178064
|
|
NM_004369.4(COL6A3):c.4690C>G (p.Arg1564Gly)
|
rs200825417
|
|
NM_004369.4(COL6A3):c.4709G>A (p.Ser1570Asn)
|
rs1473351823
|
|
NM_004369.4(COL6A3):c.4720G>A (p.Gly1574Arg)
|
rs1340303980
|
|
NM_004369.4(COL6A3):c.4729A>G (p.Asn1577Asp)
|
rs1559239453
|
|
NM_004369.4(COL6A3):c.4735G>A (p.Asp1579Asn)
|
|
|
NM_004369.4(COL6A3):c.4739G>T (p.Arg1580Ile)
|
|
|
NM_004369.4(COL6A3):c.4759A>G (p.Thr1587Ala)
|
rs745755603
|
|
NM_004369.4(COL6A3):c.4765G>C (p.Asp1589His)
|
rs904372024
|
|
NM_004369.4(COL6A3):c.4786G>T (p.Val1596Leu)
|
rs886042267
|
|
NM_004369.4(COL6A3):c.4787T>C (p.Val1596Ala)
|
rs1559239279
|
|
NM_004369.4(COL6A3):c.4817A>T (p.Glu1606Val)
|
rs1064796167
|
|
NM_004369.4(COL6A3):c.4825A>G (p.Ile1609Val)
|
|
|
NM_004369.4(COL6A3):c.4826T>A (p.Ile1609Asn)
|
|
|
NM_004369.4(COL6A3):c.4832A>G (p.Asn1611Ser)
|
rs2106352582
|
|
NM_004369.4(COL6A3):c.4837T>C (p.Phe1613Leu)
|
|
|
NM_004369.4(COL6A3):c.4849G>T (p.Ala1617Ser)
|
rs200433282
|
|
NM_004369.4(COL6A3):c.4862C>T (p.Ala1621Val)
|
rs1168631702
|
|
NM_004369.4(COL6A3):c.4873G>A (p.Val1625Met)
|
rs398124121
|
|
NM_004369.4(COL6A3):c.4873G>T (p.Val1625Leu)
|
rs398124121
|
|
NM_004369.4(COL6A3):c.4900+3A>G
|
rs894493736
|
|
NM_004369.4(COL6A3):c.4917C>G (p.Asp1639Glu)
|
rs1553556773
|
|
NM_004369.4(COL6A3):c.4921G>A (p.Val1641Met)
|
|
|
NM_004369.4(COL6A3):c.4922T>A (p.Val1641Glu)
|
rs1559237565
|
|
NM_004369.4(COL6A3):c.4924T>C (p.Phe1642Leu)
|
|
|
NM_004369.4(COL6A3):c.4942A>G (p.Ile1648Val)
|
rs941055048
|
|
NM_004369.4(COL6A3):c.4950C>G (p.Phe1650Leu)
|
rs1574991145
|
|
NM_004369.4(COL6A3):c.4957G>T (p.Asp1653Tyr)
|
rs1574991130
|
|
NM_004369.4(COL6A3):c.4958A>T (p.Asp1653Val)
|
|
|
NM_004369.4(COL6A3):c.4969G>A (p.Glu1657Lys)
|
rs1194443961
|
|
NM_004369.4(COL6A3):c.496A>G (p.Lys166Glu)
|
|
|
NM_004369.4(COL6A3):c.4976_4978del (p.Leu1659del)
|
|
|
NM_004369.4(COL6A3):c.4978C>T (p.Arg1660Cys)
|
rs1553556695
|
|
NM_004369.4(COL6A3):c.497A>G (p.Lys166Arg)
|
|
|
NM_004369.4(COL6A3):c.4984G>T (p.Val1662Leu)
|
rs886043879
|
|
NM_004369.4(COL6A3):c.5002A>G (p.Thr1668Ala)
|
|
|
NM_004369.4(COL6A3):c.500C>T (p.Ser167Phe)
|
rs1028347478
|
|
NM_004369.4(COL6A3):c.5067C>A (p.Asp1689Glu)
|
rs370475865
|
|
NM_004369.4(COL6A3):c.5078T>C (p.Leu1693Pro)
|
|
|
NM_004369.4(COL6A3):c.5083G>A (p.Asp1695Asn)
|
|
|
NM_004369.4(COL6A3):c.5086T>A (p.Phe1696Ile)
|
|
|
NM_004369.4(COL6A3):c.5146C>T (p.His1716Tyr)
|
|
|
NM_004369.4(COL6A3):c.5156C>T (p.Thr1719Ile)
|
|
|
NM_004369.4(COL6A3):c.5159A>G (p.Lys1720Arg)
|
rs2077571169
|
|
NM_004369.4(COL6A3):c.5165G>A (p.Gly1722Asp)
|
rs1553556546
|
|
NM_004369.4(COL6A3):c.5166C>T (p.Gly1722=)
|
|
|
NM_004369.4(COL6A3):c.5168T>G (p.Leu1723Arg)
|
|
|
NM_004369.4(COL6A3):c.5210G>A (p.Ser1737Asn)
|
|
|
NM_004369.4(COL6A3):c.5215C>A (p.Leu1739Met)
|
rs2077569879
|
|
NM_004369.4(COL6A3):c.5221C>A (p.Gln1741Lys)
|
|
|
NM_004369.4(COL6A3):c.5225G>A (p.Arg1742Gln)
|
rs886042855
|
|
NM_004369.4(COL6A3):c.5231C>T (p.Pro1744Leu)
|
|
|
NM_004369.4(COL6A3):c.5269G>C (p.Glu1757Gln)
|
|
|
NM_004369.4(COL6A3):c.5272G>A (p.Asp1758Asn)
|
rs536364005
|
|
NM_004369.4(COL6A3):c.5281G>A (p.Asp1761Asn)
|
|
|
NM_004369.4(COL6A3):c.5305A>T (p.Arg1769Trp)
|
rs2106350563
|
|
NM_004369.4(COL6A3):c.5306G>C (p.Arg1769Thr)
|
|
|
NM_004369.4(COL6A3):c.5307G>T (p.Arg1769Ser)
|
rs755698278
|
|
NM_004369.4(COL6A3):c.5308G>C (p.Gly1770Arg)
|
rs763289509
|
|
NM_004369.4(COL6A3):c.5318T>C (p.Val1773Ala)
|
rs771598463
|
|
NM_004369.4(COL6A3):c.5330G>A (p.Gly1777Glu)
|
|
|
NM_004369.4(COL6A3):c.5351A>G (p.Glu1784Gly)
|
rs2077565368
|
|
NM_004369.4(COL6A3):c.5356G>A (p.Val1786Ile)
|
rs2106350461
|
|
NM_004369.4(COL6A3):c.5372C>A (p.Ser1791Tyr)
|
|
|
NM_004369.4(COL6A3):c.5383A>G (p.Thr1795Ala)
|
|
|
NM_004369.4(COL6A3):c.538G>T (p.Ala180Ser)
|
|
|
NM_004369.4(COL6A3):c.53C>T (p.Ser18Leu)
|
|
|
NM_004369.4(COL6A3):c.5403C>A (p.Asn1801Lys)
|
rs114357878
|
|
NM_004369.4(COL6A3):c.5420A>T (p.Glu1807Val)
|
rs2077563075
|
|
NM_004369.4(COL6A3):c.5426G>A (p.Ser1809Asn)
|
rs1553556280
|
|
NM_004369.4(COL6A3):c.5428G>A (p.Glu1810Lys)
|
|
|
NM_004369.4(COL6A3):c.5428G>C (p.Glu1810Gln)
|
rs1463075616
|
|
NM_004369.4(COL6A3):c.5452G>A (p.Asp1818Asn)
|
|
|
NM_004369.4(COL6A3):c.5459T>C (p.Met1820Thr)
|
|
|
NM_004369.4(COL6A3):c.5479G>A (p.Gly1827Ser)
|
rs1440752292
|
|
NM_004369.4(COL6A3):c.5494G>T (p.Ala1832Ser)
|
|
|
NM_004369.4(COL6A3):c.5500+3A>C
|
rs1345603228
|
|
NM_004369.4(COL6A3):c.5501C>A (p.Ala1834Asp)
|
|
|
NM_004369.4(COL6A3):c.5504G>C (p.Cys1835Ser)
|
rs1559235332
|
|
NM_004369.4(COL6A3):c.5513A>G (p.Asp1838Gly)
|
|
|
NM_004369.4(COL6A3):c.5534G>C (p.Gly1845Ala)
|
rs747200439
|
|
NM_004369.4(COL6A3):c.5552T>C (p.Val1851Ala)
|
rs1559235183
|
|
NM_004369.4(COL6A3):c.5578T>C (p.Ser1860Pro)
|
|
|
NM_004369.4(COL6A3):c.5583G>T (p.Lys1861Asn)
|
rs906293407
|
|
NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr)
|
rs756521643
|
|
NM_004369.4(COL6A3):c.5590G>T (p.Ala1864Ser)
|
rs756521643
|
|
NM_004369.4(COL6A3):c.5593A>G (p.Ile1865Val)
|
|
|
NM_004369.4(COL6A3):c.5597T>C (p.Leu1866Ser)
|
rs1465215888
|
|
NM_004369.4(COL6A3):c.5632_5633delinsCC (p.Ser1878Pro)
|
rs1559234936
|
|
NM_004369.4(COL6A3):c.563T>C (p.Ile188Thr)
|
|
|
NM_004369.4(COL6A3):c.5650A>G (p.Thr1884Ala)
|
|
|
NM_004369.4(COL6A3):c.5659G>T (p.Val1887Leu)
|
|
|
NM_004369.4(COL6A3):c.5668G>A (p.Val1890Met)
|
|
|
NM_004369.4(COL6A3):c.5685G>A (p.Ser1895=)
|
rs1026411798
|
|
NM_004369.4(COL6A3):c.5689C>T (p.Pro1897Ser)
|
|
|
NM_004369.4(COL6A3):c.5705A>G (p.Asp1902Gly)
|
|
|
NM_004369.4(COL6A3):c.5713G>A (p.Glu1905Lys)
|
|
|
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe)
|
rs2106349155
|
|
NM_004369.4(COL6A3):c.5752C>A (p.Arg1918Ser)
|
rs750367811
|
|
NM_004369.4(COL6A3):c.5752C>G (p.Arg1918Gly)
|
|
|
NM_004369.4(COL6A3):c.5752C>T (p.Arg1918Cys)
|
|
|
NM_004369.4(COL6A3):c.5765C>G (p.Pro1922Arg)
|
rs1351246573
|
|
NM_004369.4(COL6A3):c.5768A>G (p.Tyr1923Cys)
|
rs1574987599
|
|
NM_004369.4(COL6A3):c.5777C>A (p.Thr1926Lys)
|
|
|
NM_004369.4(COL6A3):c.5794G>A (p.Val1932Ile)
|
rs113817270
|
|
NM_004369.4(COL6A3):c.5804A>G (p.Asn1935Ser)
|
rs1574987505
|
|
NM_004369.4(COL6A3):c.5806A>G (p.Lys1936Glu)
|
|
|
NM_004369.4(COL6A3):c.580A>G (p.Asn194Asp)
|
rs2078384466
|
|
NM_004369.4(COL6A3):c.5838+5G>A
|
rs1553555753
|
|
NM_004369.4(COL6A3):c.5838+9G>C
|
|
|
NM_004369.4(COL6A3):c.5839-9T>G
|
|
|
NM_004369.4(COL6A3):c.5842G>T (p.Val1948Phe)
|
rs1454153037
|
|
NM_004369.4(COL6A3):c.584T>C (p.Met195Thr)
|
rs2078384209
|
|
NM_004369.4(COL6A3):c.587A>G (p.His196Arg)
|
|
|
NM_004369.4(COL6A3):c.5881G>A (p.Asp1961Asn)
|
|
|
NM_004369.4(COL6A3):c.5893G>A (p.Ala1965Thr)
|
rs1364239110
|
|
NM_004369.4(COL6A3):c.5896T>G (p.Ser1966Ala)
|
rs200110562
|
|
NM_004369.4(COL6A3):c.5897C>A (p.Ser1966Tyr)
|
rs2077502544
|
|
NM_004369.4(COL6A3):c.5900A>C (p.Glu1967Ala)
|
rs773896666
|
|
NM_004369.4(COL6A3):c.5908C>T (p.Arg1970Cys)
|
rs886042371
|
|
NM_004369.4(COL6A3):c.5921T>C (p.Val1974Ala)
|
|
|
NM_004369.4(COL6A3):c.5923C>T (p.Arg1975Cys)
|
|
|
NM_004369.4(COL6A3):c.5938G>C (p.Val1980Leu)
|
|
|
NM_004369.4(COL6A3):c.5944C>T (p.Leu1982Phe)
|
|
|
NM_004369.4(COL6A3):c.5951G>A (p.Arg1984Gln)
|
rs1362987398
|
|
NM_004369.4(COL6A3):c.5957T>G (p.Val1986Gly)
|
rs558534346
|
|
NM_004369.4(COL6A3):c.5977C>T (p.His1993Tyr)
|
rs1559231403
|
|
NM_004369.4(COL6A3):c.5989G>A (p.Gly1997Arg)
|
rs1326219992
|
|
NM_004369.4(COL6A3):c.5996G>A (p.Gly1999Glu)
|
|
|
NM_004369.4(COL6A3):c.6022C>G (p.Leu2008Val)
|
rs1211265308
|
|
NM_004369.4(COL6A3):c.6023T>G (p.Leu2008Arg)
|
|
|
NM_004369.4(COL6A3):c.6063+5dup
|
rs2077478134
|
|
NM_004369.4(COL6A3):c.6071T>C (p.Ile2024Thr)
|
|
|
NM_004369.4(COL6A3):c.6076G>A (p.Glu2026Lys)
|
|
|
NM_004369.4(COL6A3):c.6077A>G (p.Glu2026Gly)
|
rs2106344266
|
|
NM_004369.4(COL6A3):c.6086G>A (p.Cys2029Tyr)
|
rs758893173
|
|
NM_004369.4(COL6A3):c.6094G>T (p.Val2032Phe)
|
rs1316305394
|
|
NM_004369.4(COL6A3):c.6119G>A (p.Arg2040Lys)
|
|
|
NM_004369.4(COL6A3):c.6119G>T (p.Arg2040Met)
|
|
|
NM_004369.4(COL6A3):c.611C>A (p.Thr204Asn)
|
rs1574755113
|
|
NM_004369.4(COL6A3):c.6120G>T (p.Arg2040Ser)
|
rs767129751
|
|
NM_004369.4(COL6A3):c.6136A>G (p.Ile2046Val)
|
|
|
NM_004369.4(COL6A3):c.6149G>A (p.Gly2050Glu)
|
|
|
NM_004369.4(COL6A3):c.6152C>T (p.Pro2051Leu)
|
|
|
NM_004369.4(COL6A3):c.6157G>C (p.Gly2053Arg)
|
|
|
NM_004369.4(COL6A3):c.6167G>A (p.Gly2056Glu)
|
rs1064795558
|
|
NM_004369.4(COL6A3):c.6185G>A (p.Gly2062Asp)
|
rs2106343480
|
|
NM_004369.4(COL6A3):c.6188A>G (p.Tyr2063Cys)
|
rs2106343479
|
|
NM_004369.4(COL6A3):c.619C>A (p.His207Asn)
|
rs749985039
|
|
NM_004369.4(COL6A3):c.619C>T (p.His207Tyr)
|
rs749985039
|
|
NM_004369.4(COL6A3):c.6202G>T (p.Gly2068Cys)
|
|
|
NM_004369.4(COL6A3):c.6203G>A (p.Gly2068Asp)
|
rs963783516
|
|
NM_004369.4(COL6A3):c.6210+4dup
|
|
|
NM_004369.4(COL6A3):c.6210+9_6210+19del
|
|
|
NM_004369.4(COL6A3):c.6211-11T>A
|
|
|
NM_004369.4(COL6A3):c.6211-4A>G
|
rs398124127
|
|
NM_004369.4(COL6A3):c.6211G>T (p.Gly2071Cys)
|
rs2106342311
|
|
NM_004369.4(COL6A3):c.6217C>T (p.Arg2073Cys)
|
rs1306849935
|
|
NM_004369.4(COL6A3):c.6232G>A (p.Val2078Met)
|
|
|
NM_004369.4(COL6A3):c.6232G>C (p.Val2078Leu)
|
rs2106342286
|
|
NM_004369.4(COL6A3):c.6235A>T (p.Asn2079Tyr)
|
rs2106342283
|
|
NM_004369.4(COL6A3):c.6236A>G (p.Asn2079Ser)
|
|
|
NM_004369.4(COL6A3):c.6239G>T (p.Gly2080Val)
|
rs794727188
|
|
NM_004369.4(COL6A3):c.6245_6247del (p.Gln2082_Gly2083delinsArg)
|
|
|
NM_004369.4(COL6A3):c.6248G>A (p.Gly2083Asp)
|
|
|
NM_004369.4(COL6A3):c.6260G>A (p.Cys2087Tyr)
|
|
|
NM_004369.4(COL6A3):c.6280A>C (p.Lys2094Gln)
|
rs2106342223
|
|
NM_004369.4(COL6A3):c.6354+5G>A
|
|
|
NM_004369.4(COL6A3):c.6356G>A (p.Gly2119Glu)
|
rs1574974640
|
|
NM_004369.4(COL6A3):c.6371C>G (p.Pro2124Arg)
|
|
|
NM_004369.4(COL6A3):c.6391G>A (p.Gly2131Arg)
|
|
|
NM_004369.4(COL6A3):c.6416A>T (p.Lys2139Ile)
|
|
|
NM_004369.4(COL6A3):c.6424C>G (p.Arg2142Gly)
|
rs530866854
|
|
NM_004369.4(COL6A3):c.6427G>A (p.Gly2143Arg)
|
|
|
NM_004369.4(COL6A3):c.6434_6469dup (p.Asp2156_Pro2157insGlnGlyGluArgGlyAspValGlyIleArgGlyAsp)
|
rs2106340479
|
|
NM_004369.4(COL6A3):c.6436G>A (p.Gly2146Arg)
|
rs2106340509
|
|
NM_004369.4(COL6A3):c.6443G>A (p.Arg2148Lys)
|
rs1574973805
|
|
NM_004369.4(COL6A3):c.6448G>A (p.Asp2150Asn)
|
rs2077367323
|
|
NM_004369.4(COL6A3):c.6458T>C (p.Ile2153Thr)
|
|
|
NM_004369.4(COL6A3):c.6461G>C (p.Arg2154Pro)
|
rs145561490
|
|
NM_004369.4(COL6A3):c.647G>C (p.Cys216Ser)
|
|
|
NM_004369.4(COL6A3):c.6489C>G (p.Asp2163Glu)
|
rs758376967
|
|
NM_004369.4(COL6A3):c.649G>T (p.Val217Leu)
|
rs745761792
|
|
NM_004369.4(COL6A3):c.6514G>C (p.Glu2172Gln)
|
|
|
NM_004369.4(COL6A3):c.6529G>A (p.Gly2177Ser)
|
|
|
NM_004369.4(COL6A3):c.6533C>G (p.Pro2178Arg)
|
rs762287373
|
|
NM_004369.4(COL6A3):c.6533C>T (p.Pro2178Leu)
|
|
|
NM_004369.4(COL6A3):c.6535A>C (p.Met2179Leu)
|
|
|
NM_004369.4(COL6A3):c.6559G>C (p.Val2187Leu)
|
rs2106339211
|
|
NM_004369.4(COL6A3):c.658T>A (p.Ser220Thr)
|
|
|
NM_004369.4(COL6A3):c.6591+5G>A
|
rs1574971639
|
|
NM_004369.4(COL6A3):c.6595G>A (p.Gly2199Ser)
|
rs761353795
|
|
NM_004369.4(COL6A3):c.6596G>A (p.Gly2199Asp)
|
rs1319341064
|
|
NM_004369.4(COL6A3):c.6619G>A (p.Gly2207Arg)
|
|
|
NM_004369.4(COL6A3):c.6622G>A (p.Ala2208Thr)
|
rs398124129
|
|
NM_004369.4(COL6A3):c.6627+3G>A
|
|
|
NM_004369.4(COL6A3):c.6662A>T (p.Glu2221Val)
|
rs2106334478
|
|
NM_004369.4(COL6A3):c.6697GCTGGTCCT[3] (p.Pro2238_Pro2239insAlaGlyPro)
|
|
|
NM_004369.4(COL6A3):c.6715C>G (p.Pro2239Ala)
|
rs1574963550
|
|
NM_004369.4(COL6A3):c.6724A>G (p.Ile2242Val)
|
|
|
NM_004369.4(COL6A3):c.6730G>C (p.Glu2244Gln)
|
rs753307921
|
|
NM_004369.4(COL6A3):c.6739A>G (p.Ile2247Val)
|
rs1473692842
|
|
NM_004369.4(COL6A3):c.6752G>A (p.Arg2251Gln)
|
|
|
NM_004369.4(COL6A3):c.6760G>A (p.Gly2254Arg)
|
|
|
NM_004369.4(COL6A3):c.6775G>A (p.Ala2259Thr)
|
rs2077198497
|
|
NM_004369.4(COL6A3):c.6776C>G (p.Ala2259Gly)
|
|
|
NM_004369.4(COL6A3):c.6776C>T (p.Ala2259Val)
|
|
|
NM_004369.4(COL6A3):c.6788G>A (p.Arg2263Gln)
|
|
|
NM_004369.4(COL6A3):c.6790G>A (p.Gly2264Ser)
|
|
|
NM_004369.4(COL6A3):c.6802C>T (p.Pro2268Ser)
|
|
|
NM_004369.4(COL6A3):c.6816G>C (p.Lys2272Asn)
|
rs2077197570
|
|
NM_004369.4(COL6A3):c.6826G>A (p.Gly2276Arg)
|
rs761156771
|
|
NM_004369.4(COL6A3):c.682G>T (p.Asp228Tyr)
|
|
|
NM_004369.4(COL6A3):c.6832C>A (p.Pro2278Thr)
|
rs1574958818
|
|
NM_004369.4(COL6A3):c.6848G>T (p.Gly2283Val)
|
rs1186288111
|
|
NM_004369.4(COL6A3):c.6878C>A (p.Thr2293Lys)
|
rs759657526
|
|
NM_004369.4(COL6A3):c.6879G>A (p.Thr2293=)
|
rs886044656
|
|
NM_004369.4(COL6A3):c.6889G>A (p.Gly2297Arg)
|
rs1224613890
|
|
NM_004369.4(COL6A3):c.6901G>A (p.Val2301Ile)
|
|
|
NM_004369.4(COL6A3):c.6901G>T (p.Val2301Phe)
|
rs1559212695
|
|
NM_004369.4(COL6A3):c.6908G>C (p.Ser2303Thr)
|
rs2106329002
|
|
NM_004369.4(COL6A3):c.6914G>A (p.Gly2305Glu)
|
|
|
NM_004369.4(COL6A3):c.6916C>A (p.Arg2306Ser)
|
rs370862741
|
|
NM_004369.4(COL6A3):c.6917G>A (p.Arg2306His)
|
rs1177122610
|
|
NM_004369.4(COL6A3):c.692C>A (p.Thr231Asn)
|
|
|
NM_004369.4(COL6A3):c.6930A>T (p.Lys2310Asn)
|
|
|
NM_004369.4(COL6A3):c.6946C>T (p.Pro2316Ser)
|
rs1243164167
|
|
NM_004369.4(COL6A3):c.6956C>A (p.Pro2319Gln)
|
|
|
NM_004369.4(COL6A3):c.6956C>T (p.Pro2319Leu)
|
rs751617505
|
|
NM_004369.4(COL6A3):c.6972C>A (p.Asn2324Lys)
|
rs113961575
|
|
NM_004369.4(COL6A3):c.6973C>A (p.Pro2325Thr)
|
rs886044392
|
|
NM_004369.4(COL6A3):c.6973C>G (p.Pro2325Ala)
|
rs886044392
|
|
NM_004369.4(COL6A3):c.6982C>A (p.Pro2328Thr)
|
rs371637449
|
|
NM_004369.4(COL6A3):c.7006C>T (p.Pro2336Ser)
|
rs2077126598
|
|
NM_004369.4(COL6A3):c.7007C>A (p.Pro2336His)
|
|
|
NM_004369.4(COL6A3):c.7016T>C (p.Ile2339Thr)
|
|
|
NM_004369.4(COL6A3):c.7022G>A (p.Gly2341Asp)
|
|
|
NM_004369.4(COL6A3):c.7039G>A (p.Gly2347Arg)
|
rs2106326911
|
|
NM_004369.4(COL6A3):c.7040G>A (p.Gly2347Glu)
|
|
|
NM_004369.4(COL6A3):c.7055T>G (p.Val2352Gly)
|
rs1482724586
|
|
NM_004369.4(COL6A3):c.7069G>A (p.Asp2357Asn)
|
|
|
NM_004369.4(COL6A3):c.7081C>T (p.Pro2361Ser)
|
rs934983963
|
|
NM_004369.4(COL6A3):c.7087C>G (p.Pro2363Ala)
|
|
|
NM_004369.4(COL6A3):c.7092+5G>A
|
|
|
NM_004369.4(COL6A3):c.709G>A (p.Ala237Thr)
|
rs1553564820
|
|
NM_004369.4(COL6A3):c.7100A>G (p.Lys2367Arg)
|
|
|
NM_004369.4(COL6A3):c.7112G>A (p.Gly2371Asp)
|
|
|
NM_004369.4(COL6A3):c.7123G>C (p.Asp2375His)
|
|
|
NM_004369.4(COL6A3):c.7133C>G (p.Ala2378Gly)
|
|
|
NM_004369.4(COL6A3):c.7162+2dup
|
|
|
NM_004369.4(COL6A3):c.7162C>T (p.Pro2388Ser)
|
|
|
NM_004369.4(COL6A3):c.716A>G (p.Asp239Gly)
|
rs2078202028
|
|
NM_004369.4(COL6A3):c.7174+5G>A
|
rs777424537
|
|
NM_004369.4(COL6A3):c.7174+5G>T
|
|
|
NM_004369.4(COL6A3):c.7175-3C>T
|
|
|
NM_004369.4(COL6A3):c.7178C>T (p.Pro2393Leu)
|
|
|
NM_004369.4(COL6A3):c.717C>A (p.Asp239Glu)
|
rs2078201961
|
|
NM_004369.4(COL6A3):c.7208T>C (p.Leu2403Pro)
|
rs2077065222
|
|
NM_004369.4(COL6A3):c.7217C>T (p.Ala2406Val)
|
rs2077064946
|
|
NM_004369.4(COL6A3):c.7231G>A (p.Glu2411Lys)
|
|
|
NM_004369.4(COL6A3):c.724G>A (p.Asp242Asn)
|
|
|
NM_004369.4(COL6A3):c.7254C>A (p.Phe2418Leu)
|
rs768794876
|
|
NM_004369.4(COL6A3):c.7267G>C (p.Asp2423His)
|
|
|
NM_004369.4(COL6A3):c.7289A>G (p.Asn2430Ser)
|
|
|
NM_004369.4(COL6A3):c.7298C>T (p.Thr2433Ile)
|
|
|
NM_004369.4(COL6A3):c.7300A>T (p.Ile2434Phe)
|
|
|
NM_004369.4(COL6A3):c.7310G>A (p.Ser2437Asn)
|
|
|
NM_004369.4(COL6A3):c.7321C>T (p.Arg2441Trp)
|
|
|
NM_004369.4(COL6A3):c.7324G>T (p.Gly2442Trp)
|
|
|
NM_004369.4(COL6A3):c.7327G>C (p.Ala2443Pro)
|
|
|
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp)
|
rs771424958
|
|
NM_004369.4(COL6A3):c.7334T>C (p.Val2445Ala)
|
|
|
NM_004369.4(COL6A3):c.7339G>A (p.Val2447Met)
|
rs1400293403
|
|
NM_004369.4(COL6A3):c.733T>A (p.Phe245Ile)
|
rs2106379268
|
|
NM_004369.4(COL6A3):c.7345A>G (p.Thr2449Ala)
|
rs2077061420
|
|
NM_004369.4(COL6A3):c.7357G>A (p.Glu2453Lys)
|
rs886044364
|
|
NM_004369.4(COL6A3):c.7359G>C (p.Glu2453Asp)
|
rs114199044
|
|
NM_004369.4(COL6A3):c.7386C>G (p.Asp2462Glu)
|
rs2077060526
|
|
NM_004369.4(COL6A3):c.7405C>T (p.Leu2469Phe)
|
|
|
NM_004369.4(COL6A3):c.7451A>C (p.Gln2484Pro)
|
rs1574948119
|
|
NM_004369.4(COL6A3):c.7462G>A (p.Glu2488Lys)
|
rs2106324901
|
|
NM_004369.4(COL6A3):c.7463A>G (p.Glu2488Gly)
|
|
|
NM_004369.4(COL6A3):c.7466C>T (p.Thr2489Ile)
|
rs2106324896
|
|
NM_004369.4(COL6A3):c.746G>A (p.Gly249Glu)
|
|
|
NM_004369.4(COL6A3):c.7471A>G (p.Met2491Val)
|
|
|
NM_004369.4(COL6A3):c.74C>A (p.Ala25Asp)
|
rs398124134
|
|
NM_004369.4(COL6A3):c.7504G>A (p.Val2502Met)
|
rs1446344528
|
|
NM_004369.4(COL6A3):c.751A>G (p.Asn251Asp)
|
|
|
NM_004369.4(COL6A3):c.7524G>T (p.Met2508Ile)
|
|
|
NM_004369.4(COL6A3):c.752A>C (p.Asn251Thr)
|
|
|
NM_004369.4(COL6A3):c.7546A>G (p.Ser2516Gly)
|
rs749651818
|
|
NM_004369.4(COL6A3):c.7573C>G (p.Gln2525Glu)
|
rs2077056501
|
|
NM_004369.4(COL6A3):c.7589T>C (p.Val2530Ala)
|
|
|
NM_004369.4(COL6A3):c.758C>A (p.Thr253Asn)
|
rs201283466
|
|
NM_004369.4(COL6A3):c.7595A>G (p.Lys2532Arg)
|
|
|
NM_004369.4(COL6A3):c.7597C>A (p.Leu2533Ile)
|
|
|
NM_004369.4(COL6A3):c.759_764del (p.Gly254_Ser255del)
|
|
|
NM_004369.4(COL6A3):c.7603G>T (p.Asp2535Tyr)
|
rs2106324714
|
|
NM_004369.4(COL6A3):c.7668+5G>C
|
|
|
NM_004369.4(COL6A3):c.7668G>T (p.Gln2556His)
|
rs1553547891
|
|
NM_004369.4(COL6A3):c.7669-3C>T
|
rs763071900
|
|
NM_004369.4(COL6A3):c.7682C>T (p.Ala2561Val)
|
|
|
NM_004369.4(COL6A3):c.7687G>A (p.Gly2563Arg)
|
rs780964113
|
|
NM_004369.4(COL6A3):c.7699G>A (p.Val2567Ile)
|
rs1559203170
|
|
NM_004369.4(COL6A3):c.7703T>A (p.Leu2568Gln)
|
rs2077000191
|
|
NM_004369.4(COL6A3):c.7765+17A>G
|
rs761150742
|
|
NM_004369.4(COL6A3):c.7766A>G (p.Asp2589Gly)
|
|
|
NM_004369.4(COL6A3):c.7767C>A (p.Asp2589Glu)
|
rs1553546746
|
|
NM_004369.4(COL6A3):c.7768A>T (p.Ile2590Phe)
|
|
|
NM_004369.4(COL6A3):c.7795T>C (p.Phe2599Leu)
|
|
|
NM_004369.4(COL6A3):c.77A>G (p.Gln26Arg)
|
rs1381568881
|
|
NM_004369.4(COL6A3):c.7808G>A (p.Arg2603Lys)
|
|
|
NM_004369.4(COL6A3):c.7808G>C (p.Arg2603Thr)
|
|
|
NM_004369.4(COL6A3):c.7810C>T (p.Pro2604Ser)
|
|
|
NM_004369.4(COL6A3):c.7832C>A (p.Ala2611Glu)
|
rs114806654
|
|
NM_004369.4(COL6A3):c.7850A>G (p.Asp2617Gly)
|
|
|
NM_004369.4(COL6A3):c.7851C>G (p.Asp2617Glu)
|
|
|
NM_004369.4(COL6A3):c.7882G>A (p.Glu2628Lys)
|
|
|
NM_004369.4(COL6A3):c.7898T>G (p.Phe2633Cys)
|
|
|
NM_004369.4(COL6A3):c.7901A>G (p.Gln2634Arg)
|
|
|
NM_004369.4(COL6A3):c.7913T>C (p.Met2638Thr)
|
rs2106320038
|
|
NM_004369.4(COL6A3):c.7936G>C (p.Val2646Leu)
|
rs1419214464
|
|
NM_004369.4(COL6A3):c.7948G>A (p.Asp2650Asn)
|
rs890268146
|
|
NM_004369.4(COL6A3):c.7969G>C (p.Ala2657Pro)
|
rs1192265506
|
|
NM_004369.4(COL6A3):c.7979A>G (p.His2660Arg)
|
|
|
NM_004369.4(COL6A3):c.7993G>A (p.Ala2665Thr)
|
rs1559201034
|
|
NM_004369.4(COL6A3):c.7996G>A (p.Val2666Ile)
|
|
|
NM_004369.4(COL6A3):c.8014T>G (p.Ser2672Ala)
|
|
|
NM_004369.4(COL6A3):c.8023G>A (p.Val2675Met)
|
|
|
NM_004369.4(COL6A3):c.8045C>G (p.Pro2682Arg)
|
rs761740861
|
|
NM_004369.4(COL6A3):c.8063C>T (p.Ser2688Phe)
|
|
|
NM_004369.4(COL6A3):c.80A>G (p.Gln27Arg)
|
|
|
NM_004369.4(COL6A3):c.8114G>T (p.Gly2705Val)
|
rs957705259
|
|
NM_004369.4(COL6A3):c.8127G>T (p.Leu2709Phe)
|
rs1031349800
|
|
NM_004369.4(COL6A3):c.8150G>A (p.Ser2717Asn)
|
rs763974888
|
|
NM_004369.4(COL6A3):c.8150G>C (p.Ser2717Thr)
|
rs763974888
|
|
NM_004369.4(COL6A3):c.8156T>C (p.Ile2719Thr)
|
|
|
NM_004369.4(COL6A3):c.8196C>G (p.Asn2732Lys)
|
|
|
NM_004369.4(COL6A3):c.8200C>T (p.Arg2734Trp)
|
rs756868781
|
|
NM_004369.4(COL6A3):c.8224A>C (p.Met2742Leu)
|
|
|
NM_004369.4(COL6A3):c.8257G>A (p.Glu2753Lys)
|
rs144130137
|
|
NM_004369.4(COL6A3):c.8257G>C (p.Glu2753Gln)
|
|
|
NM_004369.4(COL6A3):c.8264C>T (p.Ala2755Val)
|
rs770586429
|
|
NM_004369.4(COL6A3):c.8267A>C (p.Gln2756Pro)
|
rs2076967534
|
|
NM_004369.4(COL6A3):c.8308G>A (p.Val2770Met)
|
rs886044644
|
|
NM_004369.4(COL6A3):c.8351A>T (p.Tyr2784Phe)
|
rs2106319405
|
|
NM_004369.4(COL6A3):c.8386A>G (p.Lys2796Glu)
|
rs2106319353
|
|
NM_004369.4(COL6A3):c.838C>G (p.Arg280Gly)
|
|
|
NM_004369.4(COL6A3):c.8440A>T (p.Arg2814Trp)
|
rs1553546042
|
|
NM_004369.4(COL6A3):c.8449C>T (p.Pro2817Ser)
|
|
|
NM_004369.4(COL6A3):c.8450C>T (p.Pro2817Leu)
|
|
|
NM_004369.4(COL6A3):c.8479T>A (p.Tyr2827Asn)
|
|
|
NM_004369.4(COL6A3):c.847G>C (p.Val283Leu)
|
|
|
NM_004369.4(COL6A3):c.8491G>T (p.Asp2831Tyr)
|
|
|
NM_004369.4(COL6A3):c.8500A>C (p.Lys2834Gln)
|
|
|
NM_004369.4(COL6A3):c.8566G>A (p.Val2856Ile)
|
|
|
NM_004369.4(COL6A3):c.8588C>T (p.Thr2863Ile)
|
|
|
NM_004369.4(COL6A3):c.862G>C (p.Asp288His)
|
|
|
NM_004369.4(COL6A3):c.8634_8651del (p.2875KPVTTT[1])
|
rs780678900
|
|
NM_004369.4(COL6A3):c.8637_8654dup (p.2875KPVTTT[3])
|
rs1167608831
|
|
NM_004369.4(COL6A3):c.8644C>T (p.Pro2882Ser)
|
rs1553544899
|
|
NM_004369.4(COL6A3):c.8670_8690dup (p.Thr2898_Ile2899insThrThrThrLysProValThr)
|
|
|
NM_004369.4(COL6A3):c.8698A>C (p.Ile2900Leu)
|
rs1553544853
|
|
NM_004369.4(COL6A3):c.8725G>T (p.Ala2909Ser)
|
|
|
NM_004369.4(COL6A3):c.8740C>T (p.Pro2914Ser)
|
|
|
NM_004369.4(COL6A3):c.8750C>A (p.Pro2917His)
|
rs1559194476
|
|
NM_004369.4(COL6A3):c.8758_8772dup (p.Ala2924_Thr2925insAlaLysProValAla)
|
|
|
NM_004369.4(COL6A3):c.8759C>A (p.Ala2920Asp)
|
rs1455583519
|
|
NM_004369.4(COL6A3):c.8764C>T (p.Pro2922Ser)
|
|
|
NM_004369.4(COL6A3):c.8773A>G (p.Thr2925Ala)
|
|
|
NM_004369.4(COL6A3):c.8779_8780delinsTC (p.Met2927Ser)
|
rs2106314453
|
|
NM_004369.4(COL6A3):c.8789T>C (p.Val2930Ala)
|
rs1700542767
|
|
NM_004369.4(COL6A3):c.878T>C (p.Met293Thr)
|
rs1361910233
|
|
NM_004369.4(COL6A3):c.8798C>A (p.Pro2933Gln)
|
|
|
NM_004369.4(COL6A3):c.87A>T (p.Gln29His)
|
rs775946239
|
|
NM_004369.4(COL6A3):c.8801T>G (p.Val2934Gly)
|
rs1440572476
|
|
NM_004369.4(COL6A3):c.8804C>A (p.Ala2935Glu)
|
rs36020669
|
|
NM_004369.4(COL6A3):c.8828A>G (p.Lys2943Arg)
|
rs1700539745
|
|
NM_004369.4(COL6A3):c.8860C>T (p.Pro2954Ser)
|
|
|
NM_004369.4(COL6A3):c.8861C>A (p.Pro2954His)
|
|
|
NM_004369.4(COL6A3):c.8863C>T (p.Pro2955Ser)
|
rs1700538106
|
|
NM_004369.4(COL6A3):c.8868TGC[5] (p.Ala2960dup)
|
rs35879189
|
|
NM_004369.4(COL6A3):c.8870C>T (p.Ala2957Val)
|
rs1287394484
|
|
NM_004369.4(COL6A3):c.8873C>A (p.Ala2958Asp)
|
|
|
NM_004369.4(COL6A3):c.8914C>T (p.Pro2972Ser)
|
rs1256198664
|
|
NM_004369.4(COL6A3):c.8928_8929insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2976_Pro2977insAlaAlaAlaThrLysProAlaLys)
|
|
|
NM_004369.4(COL6A3):c.8966-3C>T
|
|
|
NM_004369.4(COL6A3):c.8987A>G (p.Gln2996Arg)
|
|
|
NM_004369.4(COL6A3):c.898T>A (p.Ser300Thr)
|
rs1559270845
|
|
NM_004369.4(COL6A3):c.898T>G (p.Ser300Ala)
|
|
|
NM_004369.4(COL6A3):c.898_900del (p.Ser300del)
|
rs554176183
|
|
NM_004369.4(COL6A3):c.8993T>C (p.Phe2998Ser)
|
rs1187707448
|
|
NM_004369.4(COL6A3):c.9013G>A (p.Ala3005Thr)
|
|
|
NM_004369.4(COL6A3):c.9014C>T (p.Ala3005Val)
|
|
|
NM_004369.4(COL6A3):c.904A>G (p.Lys302Glu)
|
|
|
NM_004369.4(COL6A3):c.9061_9063del (p.Asp3021del)
|
rs756150789
|
|
NM_004369.4(COL6A3):c.9076T>C (p.Ser3026Pro)
|
rs1700446197
|
|
NM_004369.4(COL6A3):c.9080C>T (p.Ala3027Val)
|
rs1299012840
|
|
NM_004369.4(COL6A3):c.9083A>C (p.His3028Pro)
|
|
|
NM_004369.4(COL6A3):c.9083A>G (p.His3028Arg)
|
|
|
NM_004369.4(COL6A3):c.9087T>A (p.Asp3029Glu)
|
rs1553544136
|
|
NM_004369.4(COL6A3):c.91+4A>G
|
|
|
NM_004369.4(COL6A3):c.9133A>G (p.Ile3045Val)
|
|
|
NM_004369.4(COL6A3):c.9137G>T (p.Gly3046Val)
|
|
|
NM_004369.4(COL6A3):c.913G>T (p.Val305Phe)
|
|
|
NM_004369.4(COL6A3):c.9175G>T (p.Val3059Phe)
|
|
|
NM_004369.4(COL6A3):c.9182A>C (p.Tyr3061Ser)
|
|
|
NM_004369.4(COL6A3):c.9203C>T (p.Ala3068Val)
|
|
|
NM_004369.4(COL6A3):c.9218G>A (p.Ser3073Asn)
|
|
|
NM_004369.4(COL6A3):c.9229+4_9229+7del
|
|
|
NM_004369.4(COL6A3):c.9231G>T (p.Lys3077Asn)
|
|
|
NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser)
|
rs1700374826
|
|
NM_004369.4(COL6A3):c.9245C>T (p.Pro3082Leu)
|
rs182976977
|
|
NM_004369.4(COL6A3):c.9247C>T (p.Pro3083Ser)
|
|
|
NM_004369.4(COL6A3):c.9248C>T (p.Pro3083Leu)
|
|
|
NM_004369.4(COL6A3):c.9281C>T (p.Thr3094Ile)
|
rs1700373011
|
|
NM_004369.4(COL6A3):c.9308C>A (p.Pro3103Gln)
|
rs1288932366
|
|
NM_004369.4(COL6A3):c.9326C>T (p.Thr3109Ile)
|
|
|
NM_004369.4(COL6A3):c.9328+3G>A
|
|
|
NM_004369.4(COL6A3):c.9329-14T>A
|
|
|
NM_004369.4(COL6A3):c.9329A>C (p.Asp3110Ala)
|
|
|
NM_004369.4(COL6A3):c.932C>T (p.Ala311Val)
|
rs781284019
|
|
NM_004369.4(COL6A3):c.9334T>C (p.Cys3112Arg)
|
|
|
NM_004369.4(COL6A3):c.964A>G (p.Ile322Val)
|
|
|
NM_004369.4(COL6A3):c.965T>A (p.Ile322Asn)
|
rs2078191004
|
|
NM_004369.4(COL6A3):c.979G>T (p.Asp327Tyr)
|
rs2078190150
|
|
NM_004369.4(COL6A3):c.985G>A (p.Val329Met)
|
rs542283928
|
|
NM_004369.4(COL6A3):c.985G>C (p.Val329Leu)
|
|
|
NM_004369.4(COL6A3):c.993G>C (p.Glu331Asp)
|
|
|