NM_004369.4(COL6A3):c.3071-16G>A
|
rs73998896
|
0.01822
|
NM_004369.4(COL6A3):c.3420G>A (p.Thr1140=)
|
rs35489467
|
0.01378
|
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val)
|
rs11903206
|
0.01334
|
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)
|
rs80272723
|
0.01000
|
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser)
|
rs35273032
|
0.00703
|
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp)
|
rs73998894
|
0.00603
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln)
|
rs111231885
|
0.00438
|
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=)
|
rs114750216
|
0.00432
|
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His)
|
rs35227432
|
0.00389
|
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln)
|
rs112638391
|
0.00306
|
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=)
|
rs115387170
|
0.00267
|
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val)
|
rs116729313
|
0.00265
|
NM_004369.4(COL6A3):c.8458G>A (p.Val2820Ile)
|
rs115171119
|
0.00260
|
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln)
|
rs36062562
|
0.00234
|
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu)
|
rs111803773
|
0.00225
|
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly)
|
rs112913396
|
0.00220
|
NM_004369.4(COL6A3):c.4217C>T (p.Thr1406Met)
|
rs114061998
|
0.00214
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
NM_004369.4(COL6A3):c.489G>A (p.Ala163=)
|
rs148970984
|
0.00125
|
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp)
|
rs116690555
|
0.00124
|
NM_004369.4(COL6A3):c.4090G>A (p.Val1364Met)
|
rs35524572
|
0.00122
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=)
|
rs116066149
|
0.00096
|
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu)
|
rs202092407
|
0.00096
|
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu)
|
rs115548605
|
0.00095
|
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met)
|
rs150907698
|
0.00082
|
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr)
|
rs112181324
|
0.00077
|
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met)
|
rs111402193
|
0.00076
|
NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=)
|
rs115401779
|
0.00076
|
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg)
|
rs113153193
|
0.00075
|
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr)
|
rs141609058
|
0.00074
|
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn)
|
rs138285547
|
0.00072
|
NM_004369.4(COL6A3):c.1214T>C (p.Phe405Ser)
|
rs114549120
|
0.00071
|
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)
|
rs148038440
|
0.00066
|
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.7685T>C (p.Val2562Ala)
|
rs143631346
|
0.00058
|
NM_004369.4(COL6A3):c.5619C>T (p.His1873=)
|
rs146355600
|
0.00051
|
NM_004369.4(COL6A3):c.3680-5C>T
|
rs370146203
|
0.00046
|
NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=)
|
rs114338020
|
0.00046
|
NM_004369.4(COL6A3):c.5500+19A>G
|
rs187794916
|
0.00045
|
NM_004369.4(COL6A3):c.7779C>T (p.Ile2593=)
|
rs144249704
|
0.00044
|
NM_004369.4(COL6A3):c.786C>T (p.Leu262=)
|
rs111481402
|
0.00043
|
NM_004369.4(COL6A3):c.2205C>T (p.Gly735=)
|
rs148713779
|
0.00041
|
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met)
|
rs201131900
|
0.00041
|
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met)
|
rs116505603
|
0.00041
|
NM_004369.4(COL6A3):c.4888C>T (p.Pro1630Ser)
|
rs145560772
|
0.00041
|
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=)
|
rs78365682
|
0.00039
|
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=)
|
rs189772397
|
0.00038
|
NM_004369.4(COL6A3):c.5609G>A (p.Ser1870Asn)
|
rs114804083
|
0.00037
|
NM_004369.4(COL6A3):c.3755G>A (p.Arg1252His)
|
rs201314411
|
0.00036
|
NM_004369.4(COL6A3):c.8007C>T (p.His2669=)
|
rs528369978
|
0.00035
|
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met)
|
rs116238578
|
0.00034
|
NM_004369.4(COL6A3):c.9339G>A (p.Lys3113=)
|
rs113422196
|
0.00033
|
NM_004369.4(COL6A3):c.4399A>G (p.Asn1467Asp)
|
rs138049094
|
0.00031
|
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)
|
rs114322958
|
0.00031
|
NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=)
|
rs147537071
|
0.00031
|
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val)
|
rs149924028
|
0.00031
|
NM_004369.4(COL6A3):c.8243C>T (p.Pro2748Leu)
|
rs115595706
|
0.00031
|
NM_004369.4(COL6A3):c.8724C>T (p.Ala2908=)
|
rs114684687
|
0.00031
|
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=)
|
rs140441798
|
0.00030
|
NM_004369.4(COL6A3):c.4671C>T (p.Ser1557=)
|
rs116760648
|
0.00029
|
NM_004369.4(COL6A3):c.5833G>C (p.Val1945Leu)
|
rs113332380
|
0.00029
|
NM_004369.4(COL6A3):c.6237C>T (p.Asn2079=)
|
rs34390834
|
0.00029
|
NM_004369.4(COL6A3):c.9061G>C (p.Asp3021His)
|
rs144054353
|
0.00029
|
NM_004369.4(COL6A3):c.1150G>A (p.Ala384Thr)
|
rs374267444
|
0.00028
|
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=)
|
rs114144694
|
0.00028
|
NM_004369.4(COL6A3):c.3445C>T (p.Arg1149Trp)
|
rs113360085
|
0.00027
|
NM_004369.4(COL6A3):c.7029+10C>T
|
rs376525317
|
0.00027
|
NM_004369.4(COL6A3):c.7113C>T (p.Gly2371=)
|
rs375729592
|
0.00027
|
NM_004369.4(COL6A3):c.14G>A (p.Arg5Gln)
|
rs765276422
|
0.00026
|
NM_004369.4(COL6A3):c.1572C>T (p.Tyr524=)
|
rs115973206
|
0.00026
|
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)
|
rs78427077
|
0.00026
|
NM_004369.4(COL6A3):c.3531C>G (p.Thr1177=)
|
rs143705718
|
0.00026
|
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=)
|
rs115893145
|
0.00026
|
NM_004369.4(COL6A3):c.5337G>A (p.Arg1779=)
|
rs756243022
|
0.00026
|
NM_004369.4(COL6A3):c.6180C>T (p.Tyr2060=)
|
rs115130936
|
0.00026
|
NM_004369.4(COL6A3):c.7092+20T>C
|
rs115681406
|
0.00026
|
NM_004369.4(COL6A3):c.1146G>A (p.Gln382=)
|
rs368800027
|
0.00025
|
NM_004369.4(COL6A3):c.1538G>A (p.Arg513Gln)
|
rs139498556
|
0.00024
|
NM_004369.4(COL6A3):c.7513G>A (p.Gly2505Arg)
|
rs545819982
|
0.00024
|
NM_004369.4(COL6A3):c.8978G>A (p.Arg2993His)
|
rs201888442
|
0.00024
|
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=)
|
rs115551245
|
0.00022
|
NM_004369.4(COL6A3):c.2231C>T (p.Pro744Leu)
|
rs199504304
|
0.00021
|
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)
|
rs114284669
|
0.00021
|
NM_004369.4(COL6A3):c.759C>T (p.Thr253=)
|
rs376087730
|
0.00021
|
NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met)
|
rs144976132
|
0.00019
|
NM_004369.4(COL6A3):c.4146G>A (p.Ser1382=)
|
rs114791158
|
0.00019
|
NM_004369.4(COL6A3):c.8307C>T (p.Phe2769=)
|
rs149890179
|
0.00019
|
NM_004369.4(COL6A3):c.9344C>T (p.Pro3115Leu)
|
rs138109666
|
0.00018
|
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile)
|
rs199646208
|
0.00017
|
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)
|
rs144051775
|
0.00017
|
NM_004369.4(COL6A3):c.7051A>C (p.Ile2351Leu)
|
rs557448772
|
0.00017
|
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=)
|
rs377572272
|
0.00017
|
NM_004369.4(COL6A3):c.8464+11C>T
|
rs770508359
|
0.00017
|
NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=)
|
rs200111289
|
0.00017
|
NM_004369.4(COL6A3):c.8819C>T (p.Thr2940Met)
|
rs200626456
|
0.00017
|
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr)
|
rs115819851
|
0.00017
|
NM_004369.4(COL6A3):c.1867C>T (p.Pro623Ser)
|
rs372022185
|
0.00016
|
NM_004369.4(COL6A3):c.1975C>T (p.Arg659Cys)
|
rs146291186
|
0.00016
|
NM_004369.4(COL6A3):c.3190C>T (p.Arg1064Trp)
|
rs369810455
|
0.00016
|
NM_004369.4(COL6A3):c.3331G>A (p.Ala1111Thr)
|
rs151021451
|
0.00016
|
NM_004369.4(COL6A3):c.4630C>T (p.Leu1544=)
|
rs1460616364
|
0.00016
|
NM_004369.4(COL6A3):c.8804C>T (p.Ala2935Val)
|
rs36020669
|
0.00016
|
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=)
|
rs200285455
|
0.00015
|
NM_004369.4(COL6A3):c.2195C>T (p.Thr732Met)
|
rs370719148
|
0.00014
|
NM_004369.4(COL6A3):c.3651G>T (p.Gln1217His)
|
rs115065877
|
0.00014
|
NM_004369.4(COL6A3):c.6769G>A (p.Ala2257Thr)
|
rs372154635
|
0.00014
|
NM_004369.4(COL6A3):c.9045C>T (p.Pro3015=)
|
rs144834964
|
0.00014
|
NM_004369.4(COL6A3):c.5501-4C>G
|
rs143237699
|
0.00013
|
NM_004369.4(COL6A3):c.7175-11A>G
|
rs373913396
|
0.00013
|
NM_004369.4(COL6A3):c.2525T>C (p.Phe842Ser)
|
rs369930821
|
0.00012
|
NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=)
|
rs200098134
|
0.00012
|
NM_004369.4(COL6A3):c.4436A>T (p.Gln1479Leu)
|
rs369449472
|
0.00012
|
NM_004369.4(COL6A3):c.5179C>T (p.Arg1727Trp)
|
rs143074017
|
0.00012
|
NM_004369.4(COL6A3):c.5589C>T (p.Asp1863=)
|
rs144592806
|
0.00012
|
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu)
|
rs150694150
|
0.00012
|
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met)
|
rs115297652
|
0.00011
|
NM_004369.4(COL6A3):c.4383G>A (p.Arg1461=)
|
rs144612879
|
0.00011
|
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=)
|
rs116541926
|
0.00011
|
NM_004369.4(COL6A3):c.7174G>A (p.Gly2392Arg)
|
rs773673162
|
0.00011
|
NM_004369.4(COL6A3):c.7953G>A (p.Met2651Ile)
|
rs369537287
|
0.00011
|
NM_004369.4(COL6A3):c.843G>T (p.Val281=)
|
rs376201065
|
0.00011
|
NM_004369.4(COL6A3):c.8628G>A (p.Pro2876=)
|
rs143006225
|
0.00011
|
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=)
|
rs183247300
|
0.00011
|
NM_004369.4(COL6A3):c.1120G>A (p.Val374Met)
|
rs780353083
|
0.00010
|
NM_004369.4(COL6A3):c.1562C>T (p.Ser521Leu)
|
rs115881121
|
0.00010
|
NM_004369.4(COL6A3):c.186A>G (p.Leu62=)
|
rs773733833
|
0.00010
|
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr)
|
rs142719863
|
0.00010
|
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=)
|
rs116239777
|
0.00010
|
NM_004369.4(COL6A3):c.3992G>A (p.Arg1331His)
|
rs751772951
|
0.00010
|
NM_004369.4(COL6A3):c.4828A>G (p.Met1610Val)
|
rs778808432
|
0.00010
|
NM_004369.4(COL6A3):c.5394C>T (p.Arg1798=)
|
rs202086524
|
0.00010
|
NM_004369.4(COL6A3):c.543T>C (p.Asp181=)
|
rs898779231
|
0.00010
|
NM_004369.4(COL6A3):c.6263C>T (p.Pro2088Leu)
|
rs113896755
|
0.00010
|
NM_004369.4(COL6A3):c.8846C>T (p.Pro2949Leu)
|
rs376021820
|
0.00010
|
NM_004369.4(COL6A3):c.*426G>A
|
rs574954721
|
0.00009
|
NM_004369.4(COL6A3):c.1557C>T (p.Asp519=)
|
rs145586177
|
0.00009
|
NM_004369.4(COL6A3):c.2444C>A (p.Pro815His)
|
rs199601240
|
0.00009
|
NM_004369.4(COL6A3):c.253G>A (p.Gly85Arg)
|
rs755587601
|
0.00009
|
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg)
|
rs370664069
|
0.00009
|
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=)
|
rs138426138
|
0.00009
|
NM_004369.4(COL6A3):c.3754C>T (p.Arg1252Cys)
|
rs563530370
|
0.00009
|
NM_004369.4(COL6A3):c.4663G>A (p.Asp1555Asn)
|
rs763162762
|
0.00009
|
NM_004369.4(COL6A3):c.466G>T (p.Asp156Tyr)
|
rs199632952
|
0.00009
|
NM_004369.4(COL6A3):c.5501-17G>A
|
rs200723656
|
0.00009
|
NM_004369.4(COL6A3):c.552G>A (p.Ala184=)
|
rs542204130
|
0.00009
|
NM_004369.4(COL6A3):c.5657G>A (p.Arg1886His)
|
rs368379003
|
0.00009
|
NM_004369.4(COL6A3):c.5678C>T (p.Thr1893Met)
|
rs143389941
|
0.00009
|
NM_004369.4(COL6A3):c.5679G>A (p.Thr1893=)
|
rs149151423
|
0.00009
|
NM_004369.4(COL6A3):c.5743C>T (p.Arg1915Trp)
|
rs201938007
|
0.00009
|
NM_004369.4(COL6A3):c.6053C>T (p.Ala2018Val)
|
rs200239695
|
0.00009
|
NM_004369.4(COL6A3):c.6157-4T>G
|
rs536696110
|
0.00009
|
NM_004369.4(COL6A3):c.6211-13T>C
|
rs751001881
|
0.00009
|
NM_004369.4(COL6A3):c.7173C>T (p.Tyr2391=)
|
rs114248590
|
0.00009
|
NM_004369.4(COL6A3):c.7254C>T (p.Phe2418=)
|
rs768794876
|
0.00009
|
NM_004369.4(COL6A3):c.8022C>T (p.Ser2674=)
|
rs149403952
|
0.00009
|
NM_004369.4(COL6A3):c.8457C>T (p.Phe2819=)
|
rs138683303
|
0.00009
|
NM_004369.4(COL6A3):c.862G>A (p.Asp288Asn)
|
rs115729513
|
0.00009
|
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu)
|
rs144746928
|
0.00008
|
NM_004369.4(COL6A3):c.2320T>C (p.Phe774Leu)
|
rs572969883
|
0.00008
|
NM_004369.4(COL6A3):c.2600A>T (p.Asn867Ile)
|
rs751459281
|
0.00008
|
NM_004369.4(COL6A3):c.4116C>T (p.Asn1372=)
|
rs369620378
|
0.00008
|
NM_004369.4(COL6A3):c.4595C>T (p.Ala1532Val)
|
rs372247515
|
0.00008
|
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr)
|
rs200433282
|
0.00008
|
NM_004369.4(COL6A3):c.6045T>C (p.Tyr2015=)
|
rs148877230
|
0.00008
|
NM_004369.4(COL6A3):c.6225G>A (p.Pro2075=)
|
rs368711215
|
0.00008
|
NM_004369.4(COL6A3):c.6627+18C>A
|
rs778048349
|
0.00008
|
NM_004369.4(COL6A3):c.7266A>C (p.Arg2422=)
|
rs778691629
|
0.00008
|
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys)
|
rs111395856
|
0.00008
|
NM_004369.4(COL6A3):c.8289A>C (p.Lys2763Asn)
|
rs747588645
|
0.00008
|
NM_004369.4(COL6A3):c.8436C>T (p.Phe2812=)
|
rs571287679
|
0.00008
|
NM_004369.4(COL6A3):c.1088G>A (p.Arg363His)
|
rs776329513
|
0.00007
|
NM_004369.4(COL6A3):c.1977C>T (p.Arg659=)
|
rs141280228
|
0.00007
|
NM_004369.4(COL6A3):c.1996G>A (p.Val666Ile)
|
rs111584250
|
0.00007
|
NM_004369.4(COL6A3):c.2864G>A (p.Arg955His)
|
rs112172548
|
0.00007
|
NM_004369.4(COL6A3):c.3598G>T (p.Val1200Phe)
|
rs779028054
|
0.00007
|
NM_004369.4(COL6A3):c.4064C>T (p.Pro1355Leu)
|
rs140863092
|
0.00007
|
NM_004369.4(COL6A3):c.4271G>A (p.Arg1424His)
|
rs149838946
|
0.00007
|
NM_004369.4(COL6A3):c.4494G>A (p.Pro1498=)
|
rs374885393
|
0.00007
|
NM_004369.4(COL6A3):c.5136A>G (p.Lys1712=)
|
rs748590690
|
0.00007
|
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val)
|
rs145447965
|
0.00007
|
NM_004369.4(COL6A3):c.6768C>T (p.Ala2256=)
|
rs550085228
|
0.00007
|
NM_004369.4(COL6A3):c.7376G>A (p.Arg2459Gln)
|
rs777496872
|
0.00007
|
NM_004369.4(COL6A3):c.8725G>A (p.Ala2909Thr)
|
rs201917052
|
0.00007
|
NM_004369.4(COL6A3):c.1826G>A (p.Arg609Gln)
|
rs149330325
|
0.00006
|
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)
|
rs753966526
|
0.00006
|
NM_004369.4(COL6A3):c.2523C>T (p.Leu841=)
|
rs142876356
|
0.00006
|
NM_004369.4(COL6A3):c.2567G>A (p.Arg856His)
|
rs147897225
|
0.00006
|
NM_004369.4(COL6A3):c.2643C>T (p.Ser881=)
|
rs550122375
|
0.00006
|
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=)
|
rs114492689
|
0.00006
|
NM_004369.4(COL6A3):c.3286C>T (p.Arg1096Cys)
|
rs114852262
|
0.00006
|
NM_004369.4(COL6A3):c.3330C>T (p.Ala1110=)
|
rs111328076
|
0.00006
|
NM_004369.4(COL6A3):c.3508G>A (p.Ala1170Thr)
|
rs754847515
|
0.00006
|
NM_004369.4(COL6A3):c.3679+17T>G
|
rs553819631
|
0.00006
|
NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=)
|
rs193265138
|
0.00006
|
NM_004369.4(COL6A3):c.4048G>A (p.Asp1350Asn)
|
rs752977410
|
0.00006
|
NM_004369.4(COL6A3):c.461C>T (p.Ser154Leu)
|
rs147701785
|
0.00006
|
NM_004369.4(COL6A3):c.4662C>T (p.Asp1554=)
|
rs764225803
|
0.00006
|
NM_004369.4(COL6A3):c.4677C>T (p.Phe1559=)
|
rs147215386
|
0.00006
|
NM_004369.4(COL6A3):c.4900+10G>A
|
rs189411873
|
0.00006
|
NM_004369.4(COL6A3):c.5470C>T (p.Leu1824Phe)
|
rs114131542
|
0.00006
|
NM_004369.4(COL6A3):c.5635G>A (p.Gly1879Ser)
|
rs760603443
|
0.00006
|
NM_004369.4(COL6A3):c.5744G>A (p.Arg1915Gln)
|
rs374825188
|
0.00006
|
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg)
|
rs763348222
|
0.00006
|
NM_004369.4(COL6A3):c.6930+4C>T
|
rs375657891
|
0.00006
|
NM_004369.4(COL6A3):c.7342G>T (p.Val2448Phe)
|
rs768564642
|
0.00006
|
NM_004369.4(COL6A3):c.7590G>A (p.Val2530=)
|
rs115591088
|
0.00006
|
NM_004369.4(COL6A3):c.7755T>C (p.His2585=)
|
rs145581705
|
0.00006
|
NM_004369.4(COL6A3):c.8140G>T (p.Ala2714Ser)
|
rs748491825
|
0.00006
|
NM_004369.4(COL6A3):c.8826G>A (p.Ala2942=)
|
rs751580746
|
0.00006
|
NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met)
|
rs116655315
|
0.00006
|
NM_004369.4(COL6A3):c.1312+7A>G
|
rs949869773
|
0.00005
|
NM_004369.4(COL6A3):c.2666G>A (p.Arg889His)
|
rs111295967
|
0.00005
|
NM_004369.4(COL6A3):c.2695A>G (p.Ile899Val)
|
rs372114508
|
0.00005
|
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val)
|
rs202185764
|
0.00005
|
NM_004369.4(COL6A3):c.2994G>A (p.Ser998=)
|
rs768233315
|
0.00005
|
NM_004369.4(COL6A3):c.3555C>T (p.Ala1185=)
|
rs373719229
|
0.00005
|
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp)
|
rs150430813
|
0.00005
|
NM_004369.4(COL6A3):c.4504G>A (p.Ala1502Thr)
|
rs201722265
|
0.00005
|
NM_004369.4(COL6A3):c.5680C>T (p.Pro1894Ser)
|
rs112540218
|
0.00005
|
NM_004369.4(COL6A3):c.5696A>G (p.Glu1899Gly)
|
rs768711436
|
0.00005
|
NM_004369.4(COL6A3):c.5734G>A (p.Glu1912Lys)
|
rs113251155
|
0.00005
|
NM_004369.4(COL6A3):c.6355-4G>T
|
rs755204422
|
0.00005
|
NM_004369.4(COL6A3):c.6408+16C>T
|
rs531635518
|
0.00005
|
NM_004369.4(COL6A3):c.6477C>T (p.Asn2159=)
|
rs149697986
|
0.00005
|
NM_004369.4(COL6A3):c.6902T>C (p.Val2301Ala)
|
rs111927395
|
0.00005
|
NM_004369.4(COL6A3):c.7659C>T (p.Asn2553=)
|
rs369335838
|
0.00005
|
NM_004369.4(COL6A3):c.7668+16G>A
|
rs746169209
|
0.00005
|
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=)
|
rs758582935
|
0.00005
|
NM_004369.4(COL6A3):c.8373C>T (p.Asn2791=)
|
rs770214487
|
0.00005
|
NM_004369.4(COL6A3):c.8632A>G (p.Thr2878Ala)
|
rs761653490
|
0.00005
|
NM_004369.4(COL6A3):c.8996A>G (p.Glu2999Gly)
|
rs537189097
|
0.00005
|
NM_004369.4(COL6A3):c.9217A>G (p.Ser3073Gly)
|
rs199680718
|
0.00005
|
NM_004369.4(COL6A3):c.966C>T (p.Ile322=)
|
rs369160080
|
0.00005
|
NM_004369.4(COL6A3):c.1263C>T (p.Gly421=)
|
rs775821966
|
0.00004
|
NM_004369.4(COL6A3):c.1385A>G (p.Asn462Ser)
|
rs200250810
|
0.00004
|
NM_004369.4(COL6A3):c.1830C>T (p.Ala610=)
|
rs756709812
|
0.00004
|
NM_004369.4(COL6A3):c.1831G>A (p.Ala611Thr)
|
rs372255458
|
0.00004
|
NM_004369.4(COL6A3):c.2029C>T (p.Arg677Cys)
|
rs137923508
|
0.00004
|
NM_004369.4(COL6A3):c.2066C>T (p.Thr689Met)
|
rs762162177
|
0.00004
|
NM_004369.4(COL6A3):c.2147G>A (p.Gly716Asp)
|
rs144514259
|
0.00004
|
NM_004369.4(COL6A3):c.2206G>A (p.Gly736Ser)
|
rs150008830
|
0.00004
|
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His)
|
rs575412915
|
0.00004
|
NM_004369.4(COL6A3):c.2529C>T (p.Asp843=)
|
rs556079869
|
0.00004
|
NM_004369.4(COL6A3):c.254G>A (p.Gly85Glu)
|
rs369814614
|
0.00004
|
NM_004369.4(COL6A3):c.2634T>C (p.Ala878=)
|
rs760857131
|
0.00004
|
NM_004369.4(COL6A3):c.2745C>T (p.Asn915=)
|
rs749992393
|
0.00004
|
NM_004369.4(COL6A3):c.2748G>C (p.Leu916=)
|
rs1347948544
|
0.00004
|
NM_004369.4(COL6A3):c.285G>A (p.Thr95=)
|
rs373435541
|
0.00004
|
NM_004369.4(COL6A3):c.2931C>T (p.Asn977=)
|
rs774059985
|
0.00004
|
NM_004369.4(COL6A3):c.3008G>A (p.Gly1003Glu)
|
rs775536678
|
0.00004
|
NM_004369.4(COL6A3):c.3196C>T (p.Arg1066Cys)
|
rs774406266
|
0.00004
|
NM_004369.4(COL6A3):c.3279C>T (p.Asn1093=)
|
rs777242754
|
0.00004
|
NM_004369.4(COL6A3):c.3287G>A (p.Arg1096His)
|
rs200860322
|
0.00004
|
NM_004369.4(COL6A3):c.3411C>T (p.Ile1137=)
|
rs368285658
|
0.00004
|
NM_004369.4(COL6A3):c.3463G>A (p.Val1155Met)
|
rs774764179
|
0.00004
|
NM_004369.4(COL6A3):c.354T>G (p.Thr118=)
|
rs751592191
|
0.00004
|
NM_004369.4(COL6A3):c.3733G>A (p.Gly1245Arg)
|
rs150548221
|
0.00004
|
NM_004369.4(COL6A3):c.3750C>T (p.Tyr1250=)
|
rs763648429
|
0.00004
|
NM_004369.4(COL6A3):c.3936G>C (p.Val1312=)
|
rs776983763
|
0.00004
|
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)
|
rs766488017
|
0.00004
|
NM_004369.4(COL6A3):c.4155C>T (p.Pro1385=)
|
rs761804539
|
0.00004
|
NM_004369.4(COL6A3):c.4226C>T (p.Thr1409Met)
|
rs368928992
|
0.00004
|
NM_004369.4(COL6A3):c.4285+13C>T
|
rs368338594
|
0.00004
|
NM_004369.4(COL6A3):c.4431C>T (p.Val1477=)
|
rs151289203
|
0.00004
|
NM_004369.4(COL6A3):c.4432G>A (p.Val1478Met)
|
rs374493032
|
0.00004
|
NM_004369.4(COL6A3):c.4603C>T (p.Arg1535Cys)
|
rs752225290
|
0.00004
|
NM_004369.4(COL6A3):c.4614C>T (p.Asp1538=)
|
rs199759398
|
0.00004
|
NM_004369.4(COL6A3):c.4691G>A (p.Arg1564His)
|
rs368151192
|
0.00004
|
NM_004369.4(COL6A3):c.4836G>A (p.Ser1612=)
|
rs766930229
|
0.00004
|
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=)
|
rs200948078
|
0.00004
|
NM_004369.4(COL6A3):c.5230C>T (p.Pro1744Ser)
|
rs192930227
|
0.00004
|
NM_004369.4(COL6A3):c.5265G>A (p.Ser1755=)
|
rs140699766
|
0.00004
|
NM_004369.4(COL6A3):c.5277A>G (p.Ala1759=)
|
rs567112070
|
0.00004
|
NM_004369.4(COL6A3):c.5379C>T (p.Ser1793=)
|
rs760201640
|
0.00004
|
NM_004369.4(COL6A3):c.5387C>T (p.Ala1796Val)
|
rs772890888
|
0.00004
|
NM_004369.4(COL6A3):c.5388G>A (p.Ala1796=)
|
rs116565519
|
0.00004
|
NM_004369.4(COL6A3):c.5393G>A (p.Arg1798His)
|
rs371441617
|
0.00004
|
NM_004369.4(COL6A3):c.5403C>T (p.Asn1801=)
|
rs114357878
|
0.00004
|
NM_004369.4(COL6A3):c.5419G>A (p.Glu1807Lys)
|
rs781624176
|
0.00004
|
NM_004369.4(COL6A3):c.5500+15G>A
|
rs372876170
|
0.00004
|
NM_004369.4(COL6A3):c.5607C>T (p.Ile1869=)
|
rs751159969
|
0.00004
|
NM_004369.4(COL6A3):c.5681C>T (p.Pro1894Leu)
|
rs376002858
|
0.00004
|
NM_004369.4(COL6A3):c.5690C>T (p.Pro1897Leu)
|
rs370806359
|
0.00004
|
NM_004369.4(COL6A3):c.5869G>A (p.Gly1957Arg)
|
rs554219567
|
0.00004
|
NM_004369.4(COL6A3):c.6075C>T (p.Ala2025=)
|
rs375668409
|
0.00004
|
NM_004369.4(COL6A3):c.6218G>A (p.Arg2073His)
|
rs185047948
|
0.00004
|
NM_004369.4(COL6A3):c.625A>G (p.Ile209Val)
|
rs751370730
|
0.00004
|
NM_004369.4(COL6A3):c.6354+18A>C
|
rs774579188
|
0.00004
|
NM_004369.4(COL6A3):c.6452T>C (p.Val2151Ala)
|
rs540633944
|
0.00004
|
NM_004369.4(COL6A3):c.6471+20C>T
|
rs370407313
|
0.00004
|
NM_004369.4(COL6A3):c.6852C>T (p.Ile2284=)
|
rs374952003
|
0.00004
|
NM_004369.4(COL6A3):c.6879+15C>T
|
rs368631950
|
0.00004
|
NM_004369.4(COL6A3):c.6912A>G (p.Glu2304=)
|
rs746697715
|
0.00004
|
NM_004369.4(COL6A3):c.6931-6T>C
|
rs376338674
|
0.00004
|
NM_004369.4(COL6A3):c.6967-15C>T
|
rs112451272
|
0.00004
|
NM_004369.4(COL6A3):c.7441A>G (p.Thr2481Ala)
|
rs201467603
|
0.00004
|
NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=)
|
rs570963533
|
0.00004
|
NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val)
|
rs769072338
|
0.00004
|
NM_004369.4(COL6A3):c.7646G>A (p.Arg2549Gln)
|
rs115863049
|
0.00004
|
NM_004369.4(COL6A3):c.7746C>T (p.Leu2582=)
|
rs751294512
|
0.00004
|
NM_004369.4(COL6A3):c.7748C>T (p.Thr2583Met)
|
rs140021275
|
0.00004
|
NM_004369.4(COL6A3):c.7879G>A (p.Ala2627Thr)
|
rs776220123
|
0.00004
|
NM_004369.4(COL6A3):c.7963C>G (p.Pro2655Ala)
|
rs767471920
|
0.00004
|
NM_004369.4(COL6A3):c.8137A>G (p.Arg2713Gly)
|
rs772602377
|
0.00004
|
NM_004369.4(COL6A3):c.8244G>A (p.Pro2748=)
|
rs113754336
|
0.00004
|
NM_004369.4(COL6A3):c.8270G>C (p.Arg2757Thr)
|
rs746608405
|
0.00004
|
NM_004369.4(COL6A3):c.8317G>A (p.Gly2773Ser)
|
rs756294311
|
0.00004
|
NM_004369.4(COL6A3):c.8389T>C (p.Leu2797=)
|
rs754977455
|
0.00004
|
NM_004369.4(COL6A3):c.8415C>T (p.Asn2805=)
|
rs375442243
|
0.00004
|
NM_004369.4(COL6A3):c.9130G>A (p.Val3044Ile)
|
rs374628435
|
0.00004
|
NM_004369.4(COL6A3):c.9198C>T (p.Val3066=)
|
rs765101399
|
0.00004
|
NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=)
|
rs748814297
|
0.00004
|
NM_004369.4(COL6A3):c.1087C>T (p.Arg363Cys)
|
rs759280111
|
0.00003
|
NM_004369.4(COL6A3):c.1506T>C (p.His502=)
|
rs770990749
|
0.00003
|
NM_004369.4(COL6A3):c.1566C>A (p.Ala522=)
|
rs771948237
|
0.00003
|
NM_004369.4(COL6A3):c.1614G>A (p.Thr538=)
|
rs535142787
|
0.00003
|
NM_004369.4(COL6A3):c.1636G>A (p.Ala546Thr)
|
rs150377792
|
0.00003
|
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=)
|
rs114278376
|
0.00003
|
NM_004369.4(COL6A3):c.1898-5T>C
|
rs373563217
|
0.00003
|
NM_004369.4(COL6A3):c.2068G>A (p.Glu690Lys)
|
rs368161217
|
0.00003
|
NM_004369.4(COL6A3):c.2153A>G (p.Asn718Ser)
|
rs748641277
|
0.00003
|
NM_004369.4(COL6A3):c.2219G>A (p.Arg740His)
|
rs529827991
|
0.00003
|
NM_004369.4(COL6A3):c.2497+9C>A
|
rs774198344
|
0.00003
|
NM_004369.4(COL6A3):c.249C>T (p.Phe83=)
|
rs758434537
|
0.00003
|
NM_004369.4(COL6A3):c.252C>T (p.Asn84=)
|
rs765786832
|
0.00003
|
NM_004369.4(COL6A3):c.2730G>A (p.Thr910=)
|
rs367991818
|
0.00003
|
NM_004369.4(COL6A3):c.2998C>T (p.Pro1000Ser)
|
rs762584015
|
0.00003
|
NM_004369.4(COL6A3):c.3371C>T (p.Ala1124Val)
|
rs374447921
|
0.00003
|
NM_004369.4(COL6A3):c.3653C>T (p.Pro1218Leu)
|
rs75071027
|
0.00003
|
NM_004369.4(COL6A3):c.3654G>A (p.Pro1218=)
|
rs778039312
|
0.00003
|
NM_004369.4(COL6A3):c.3680-18C>G
|
rs528379574
|
0.00003
|
NM_004369.4(COL6A3):c.3861C>T (p.Asn1287=)
|
rs113247852
|
0.00003
|
NM_004369.4(COL6A3):c.3862G>A (p.Ala1288Thr)
|
rs761799119
|
0.00003
|
NM_004369.4(COL6A3):c.3894G>A (p.Ala1298=)
|
rs777277026
|
0.00003
|
NM_004369.4(COL6A3):c.3933C>T (p.Asn1311=)
|
rs763164666
|
0.00003
|
NM_004369.4(COL6A3):c.4007T>C (p.Val1336Ala)
|
rs760059705
|
0.00003
|
NM_004369.4(COL6A3):c.4197C>A (p.Ser1399Arg)
|
rs755091615
|
0.00003
|
NM_004369.4(COL6A3):c.4227G>A (p.Thr1409=)
|
rs142938239
|
0.00003
|
NM_004369.4(COL6A3):c.4254G>A (p.Lys1418=)
|
rs528204718
|
0.00003
|
NM_004369.4(COL6A3):c.4285+14G>A
|
rs373893821
|
0.00003
|
NM_004369.4(COL6A3):c.4293G>A (p.Glu1431=)
|
rs751433682
|
0.00003
|
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe)
|
rs144314743
|
0.00003
|
NM_004369.4(COL6A3):c.438C>T (p.Ile146=)
|
rs781449958
|
0.00003
|
NM_004369.4(COL6A3):c.439G>A (p.Val147Ile)
|
rs536452909
|
0.00003
|
NM_004369.4(COL6A3):c.4402A>G (p.Ile1468Val)
|
rs759366102
|
0.00003
|
NM_004369.4(COL6A3):c.4813A>G (p.Ile1605Val)
|
rs111389165
|
0.00003
|
NM_004369.4(COL6A3):c.4866T>A (p.Pro1622=)
|
rs773082911
|
0.00003
|
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=)
|
rs140516220
|
0.00003
|
NM_004369.4(COL6A3):c.5112C>T (p.Asp1704=)
|
rs759756382
|
0.00003
|
NM_004369.4(COL6A3):c.5349G>A (p.Ser1783=)
|
rs752102793
|
0.00003
|
NM_004369.4(COL6A3):c.5575G>A (p.Glu1859Lys)
|
rs886043180
|
0.00003
|
NM_004369.4(COL6A3):c.5769C>T (p.Tyr1923=)
|
rs751915461
|
0.00003
|
NM_004369.4(COL6A3):c.5877G>C (p.Leu1959=)
|
rs752905591
|
0.00003
|
NM_004369.4(COL6A3):c.5969G>A (p.Arg1990Gln)
|
rs780489910
|
0.00003
|
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=)
|
rs762950440
|
0.00003
|
NM_004369.4(COL6A3):c.6157-17C>T
|
rs199764618
|
0.00003
|
NM_004369.4(COL6A3):c.624C>T (p.Asp208=)
|
rs757316338
|
0.00003
|
NM_004369.4(COL6A3):c.6282+7C>T
|
rs779630783
|
0.00003
|
NM_004369.4(COL6A3):c.6451G>C (p.Val2151Leu)
|
rs768565928
|
0.00003
|
NM_004369.4(COL6A3):c.6555T>C (p.Asp2185=)
|
rs199869924
|
0.00003
|
NM_004369.4(COL6A3):c.6639C>A (p.Gly2213=)
|
rs765837100
|
0.00003
|
NM_004369.4(COL6A3):c.6675G>A (p.Gly2225=)
|
rs538533719
|
0.00003
|
NM_004369.4(COL6A3):c.686C>T (p.Thr229Met)
|
rs141586922
|
0.00003
|
NM_004369.4(COL6A3):c.6888C>T (p.Asp2296=)
|
rs762210213
|
0.00003
|
NM_004369.4(COL6A3):c.7356C>T (p.Asn2452=)
|
rs569662223
|
0.00003
|
NM_004369.4(COL6A3):c.7402G>A (p.Val2468Ile)
|
rs527516269
|
0.00003
|
NM_004369.4(COL6A3):c.7608G>A (p.Ala2536=)
|
rs749750613
|
0.00003
|
NM_004369.4(COL6A3):c.764G>A (p.Ser255Asn)
|
rs755138368
|
0.00003
|
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr)
|
rs786205870
|
0.00003
|
NM_004369.4(COL6A3):c.774C>T (p.Phe258=)
|
rs766589204
|
0.00003
|
NM_004369.4(COL6A3):c.7870T>G (p.Leu2624Val)
|
rs777305410
|
0.00003
|
NM_004369.4(COL6A3):c.7877G>A (p.Ser2626Asn)
|
rs765014790
|
0.00003
|
NM_004369.4(COL6A3):c.8008G>A (p.Ala2670Thr)
|
rs398124135
|
0.00003
|
NM_004369.4(COL6A3):c.8168T>C (p.Ile2723Thr)
|
rs373108028
|
0.00003
|
NM_004369.4(COL6A3):c.8201G>A (p.Arg2734Gln)
|
rs115116398
|
0.00003
|
NM_004369.4(COL6A3):c.8464+20G>C
|
rs398124136
|
0.00003
|
NM_004369.4(COL6A3):c.8621C>T (p.Thr2874Met)
|
rs779335085
|
0.00003
|
NM_004369.4(COL6A3):c.8637G>C (p.Thr2879=)
|
rs1417532835
|
0.00003
|
NM_004369.4(COL6A3):c.8660C>T (p.Thr2887Ile)
|
rs765812583
|
0.00003
|
NM_004369.4(COL6A3):c.8794C>T (p.Pro2932Ser)
|
rs992204564
|
0.00003
|
NM_004369.4(COL6A3):c.8865C>T (p.Pro2955=)
|
rs199936838
|
0.00003
|
NM_004369.4(COL6A3):c.8970G>A (p.Lys2990=)
|
rs113721676
|
0.00003
|
NM_004369.4(COL6A3):c.91+16G>A
|
rs747662761
|
0.00003
|
NM_004369.4(COL6A3):c.936C>T (p.Leu312=)
|
rs377629176
|
0.00003
|
NM_004369.4(COL6A3):c.1092C>T (p.Tyr364=)
|
rs548519047
|
0.00002
|
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys)
|
rs112817175
|
0.00002
|
NM_004369.4(COL6A3):c.1293G>A (p.Pro431=)
|
rs376912950
|
0.00002
|
NM_004369.4(COL6A3):c.1394G>A (p.Arg465Gln)
|
rs781231935
|
0.00002
|
NM_004369.4(COL6A3):c.1530C>T (p.Thr510=)
|
rs373281009
|
0.00002
|
NM_004369.4(COL6A3):c.1575G>A (p.Thr525=)
|
rs749452623
|
0.00002
|
NM_004369.4(COL6A3):c.1594G>A (p.Val532Ile)
|
rs757748748
|
0.00002
|
NM_004369.4(COL6A3):c.1605C>T (p.Asn535=)
|
rs763426415
|
0.00002
|
NM_004369.4(COL6A3):c.1857C>T (p.Gly619=)
|
rs776665419
|
0.00002
|
NM_004369.4(COL6A3):c.1897+11G>A
|
rs780688368
|
0.00002
|
NM_004369.4(COL6A3):c.1920C>A (p.Ile640=)
|
rs988504831
|
0.00002
|
NM_004369.4(COL6A3):c.2059C>T (p.Pro687Ser)
|
rs750291186
|
0.00002
|
NM_004369.4(COL6A3):c.2189A>G (p.His730Arg)
|
rs760976593
|
0.00002
|
NM_004369.4(COL6A3):c.2343G>A (p.Ala781=)
|
rs561804945
|
0.00002
|
NM_004369.4(COL6A3):c.2350G>A (p.Ala784Thr)
|
rs765006452
|
0.00002
|
NM_004369.4(COL6A3):c.237T>C (p.Ala79=)
|
rs747312241
|
0.00002
|
NM_004369.4(COL6A3):c.267C>T (p.Thr89=)
|
rs757243408
|
0.00002
|
NM_004369.4(COL6A3):c.2756C>T (p.Ala919Val)
|
rs115327470
|
0.00002
|
NM_004369.4(COL6A3):c.2757G>A (p.Ala919=)
|
rs115874872
|
0.00002
|
NM_004369.4(COL6A3):c.2907G>A (p.Val969=)
|
rs772894785
|
0.00002
|
NM_004369.4(COL6A3):c.2958C>T (p.Ile986=)
|
rs145203676
|
0.00002
|
NM_004369.4(COL6A3):c.2965T>C (p.Ser989Pro)
|
rs758482171
|
0.00002
|
NM_004369.4(COL6A3):c.3001A>G (p.Lys1001Glu)
|
rs977976932
|
0.00002
|
NM_004369.4(COL6A3):c.3187G>A (p.Asp1063Asn)
|
rs760543147
|
0.00002
|
NM_004369.4(COL6A3):c.3219C>T (p.Ser1073=)
|
rs747436841
|
0.00002
|
NM_004369.4(COL6A3):c.3228C>G (p.Thr1076=)
|
rs886042997
|
0.00002
|
NM_004369.4(COL6A3):c.3588C>T (p.Thr1196=)
|
rs1434102843
|
0.00002
|
NM_004369.4(COL6A3):c.3627C>A (p.Thr1209=)
|
rs1230310524
|
0.00002
|
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=)
|
rs542411896
|
0.00002
|
NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met)
|
rs541703064
|
0.00002
|
NM_004369.4(COL6A3):c.3831C>T (p.Ser1277=)
|
rs114110705
|
0.00002
|
NM_004369.4(COL6A3):c.3891C>T (p.Asn1297=)
|
rs200722316
|
0.00002
|
NM_004369.4(COL6A3):c.3923G>A (p.Arg1308Gln)
|
rs774461787
|
0.00002
|
NM_004369.4(COL6A3):c.4404C>T (p.Ile1468=)
|
rs371075249
|
0.00002
|
NM_004369.4(COL6A3):c.453T>G (p.Asp151Glu)
|
rs759004319
|
0.00002
|
NM_004369.4(COL6A3):c.462G>A (p.Ser154=)
|
rs773051161
|
0.00002
|
NM_004369.4(COL6A3):c.467A>C (p.Asp156Ala)
|
rs150972216
|
0.00002
|
NM_004369.4(COL6A3):c.4765G>A (p.Asp1589Asn)
|
rs904372024
|
0.00002
|
NM_004369.4(COL6A3):c.5118C>T (p.Ile1706=)
|
rs766291321
|
0.00002
|
NM_004369.4(COL6A3):c.5395G>A (p.Val1799Met)
|
rs768420468
|
0.00002
|
NM_004369.4(COL6A3):c.5418C>T (p.Ser1806=)
|
rs398124123
|
0.00002
|
NM_004369.4(COL6A3):c.5528T>C (p.Phe1843Ser)
|
rs770876436
|
0.00002
|
NM_004369.4(COL6A3):c.5634C>T (p.Ser1878=)
|
rs770825082
|
0.00002
|
NM_004369.4(COL6A3):c.5868C>T (p.Asp1956=)
|
rs777508994
|
0.00002
|
NM_004369.4(COL6A3):c.5909G>A (p.Arg1970His)
|
rs368635334
|
0.00002
|
NM_004369.4(COL6A3):c.6036C>T (p.Asp2012=)
|
rs771602562
|
0.00002
|
NM_004369.4(COL6A3):c.6039G>A (p.Leu2013=)
|
rs748005373
|
0.00002
|
NM_004369.4(COL6A3):c.6068A>G (p.Asn2023Ser)
|
rs115320113
|
0.00002
|
NM_004369.4(COL6A3):c.6117G>C (p.Gln2039His)
|
rs750063736
|
0.00002
|
NM_004369.4(COL6A3):c.6128G>A (p.Arg2043His)
|
rs142090771
|
0.00002
|
NM_004369.4(COL6A3):c.6342G>A (p.Leu2114=)
|
rs886043269
|
0.00002
|
NM_004369.4(COL6A3):c.6352G>T (p.Asp2118Tyr)
|
rs374476448
|
0.00002
|
NM_004369.4(COL6A3):c.6394A>T (p.Asn2132Tyr)
|
rs750889657
|
0.00002
|
NM_004369.4(COL6A3):c.6528C>T (p.Leu2176=)
|
rs560225578
|
0.00002
|
NM_004369.4(COL6A3):c.6730G>A (p.Glu2244Lys)
|
rs753307921
|
0.00002
|
NM_004369.4(COL6A3):c.6759C>T (p.Ser2253=)
|
rs375134458
|
0.00002
|
NM_004369.4(COL6A3):c.6957A>G (p.Pro2319=)
|
rs777752945
|
0.00002
|
NM_004369.4(COL6A3):c.6966+19G>T
|
rs369486630
|
0.00002
|
NM_004369.4(COL6A3):c.6998C>A (p.Thr2333Lys)
|
rs557578629
|
0.00002
|
NM_004369.4(COL6A3):c.7037C>T (p.Ser2346Leu)
|
rs377168716
|
0.00002
|
NM_004369.4(COL6A3):c.7122C>T (p.Ile2374=)
|
rs747377101
|
0.00002
|
NM_004369.4(COL6A3):c.7323G>A (p.Arg2441=)
|
rs1255913973
|
0.00002
|
NM_004369.4(COL6A3):c.7446C>G (p.Ser2482=)
|
rs1439207088
|
0.00002
|
NM_004369.4(COL6A3):c.7476G>A (p.Ser2492=)
|
rs150815991
|
0.00002
|
NM_004369.4(COL6A3):c.7491C>T (p.Asn2497=)
|
rs751097250
|
0.00002
|
NM_004369.4(COL6A3):c.760G>A (p.Gly254Arg)
|
rs571172347
|
0.00002
|
NM_004369.4(COL6A3):c.7777A>T (p.Ile2593Phe)
|
rs755107410
|
0.00002
|
NM_004369.4(COL6A3):c.8358C>T (p.Phe2786=)
|
rs113423040
|
0.00002
|
NM_004369.4(COL6A3):c.8393T>C (p.Val2798Ala)
|
rs749169391
|
0.00002
|
NM_004369.4(COL6A3):c.8464+12G>A
|
rs199707923
|
0.00002
|
NM_004369.4(COL6A3):c.8511T>C (p.Asp2837=)
|
rs936115881
|
0.00002
|
NM_004369.4(COL6A3):c.8583C>T (p.Asn2861=)
|
rs375994186
|
0.00002
|
NM_004369.4(COL6A3):c.8646G>A (p.Pro2882=)
|
rs751922269
|
0.00002
|
NM_004369.4(COL6A3):c.8825C>T (p.Ala2942Val)
|
rs757146083
|
0.00002
|
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val)
|
rs563813743
|
0.00002
|
NM_004369.4(COL6A3):c.893C>T (p.Thr298Ile)
|
rs776043658
|
0.00002
|
NM_004369.4(COL6A3):c.8966-20C>T
|
rs557787842
|
0.00002
|
NM_004369.4(COL6A3):c.92-12C>G
|
rs759990390
|
0.00002
|
NM_004369.4(COL6A3):c.9329-8T>C
|
rs770436782
|
0.00002
|
NM_004369.4(COL6A3):c.972C>T (p.Leu324=)
|
rs761334907
|
0.00002
|
NM_004369.4(COL6A3):c.1007G>A (p.Arg336Gln)
|
rs745667305
|
0.00001
|
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His)
|
rs140510298
|
0.00001
|
NM_004369.4(COL6A3):c.1023C>T (p.Arg341=)
|
rs779564611
|
0.00001
|
NM_004369.4(COL6A3):c.1061G>A (p.Ser354Asn)
|
rs1416475329
|
0.00001
|
NM_004369.4(COL6A3):c.1066G>A (p.Gly356Arg)
|
rs200795795
|
0.00001
|
NM_004369.4(COL6A3):c.107C>T (p.Ala36Val)
|
rs572020866
|
0.00001
|
NM_004369.4(COL6A3):c.1080C>T (p.Asp360=)
|
rs762463347
|
0.00001
|
NM_004369.4(COL6A3):c.1093G>A (p.Gly365Arg)
|
rs778069171
|
0.00001
|
NM_004369.4(COL6A3):c.1149C>T (p.Ala383=)
|
rs139016980
|
0.00001
|
NM_004369.4(COL6A3):c.1152C>A (p.Ala384=)
|
rs1207676038
|
0.00001
|
NM_004369.4(COL6A3):c.117T>C (p.Asp39=)
|
rs1574757082
|
0.00001
|
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)
|
rs181264679
|
0.00001
|
NM_004369.4(COL6A3):c.1356C>T (p.Gly452=)
|
rs761005162
|
0.00001
|
NM_004369.4(COL6A3):c.1370G>T (p.Gly457Val)
|
rs377757978
|
0.00001
|
NM_004369.4(COL6A3):c.13C>T (p.Arg5Trp)
|
rs752738273
|
0.00001
|
NM_004369.4(COL6A3):c.1415T>C (p.Ile472Thr)
|
rs757316442
|
0.00001
|
NM_004369.4(COL6A3):c.1432G>A (p.Gly478Arg)
|
rs777693832
|
0.00001
|
NM_004369.4(COL6A3):c.1563G>A (p.Ser521=)
|
rs773149146
|
0.00001
|
NM_004369.4(COL6A3):c.1620A>G (p.Ser540=)
|
rs200205650
|
0.00001
|
NM_004369.4(COL6A3):c.1624G>A (p.Gly542Ser)
|
rs756045079
|
0.00001
|
NM_004369.4(COL6A3):c.1727G>A (p.Ser576Asn)
|
rs1291470412
|
0.00001
|
NM_004369.4(COL6A3):c.1770T>C (p.Ala590=)
|
rs774234847
|
0.00001
|
NM_004369.4(COL6A3):c.1812C>T (p.Ile604=)
|
rs138036318
|
0.00001
|
NM_004369.4(COL6A3):c.1833C>T (p.Ala611=)
|
rs368242683
|
0.00001
|
NM_004369.4(COL6A3):c.1906A>G (p.Asn636Asp)
|
rs111379417
|
0.00001
|
NM_004369.4(COL6A3):c.1939T>A (p.Ser647Thr)
|
rs777409908
|
0.00001
|
NM_004369.4(COL6A3):c.1958C>A (p.Thr653Asn)
|
rs753557181
|
0.00001
|
NM_004369.4(COL6A3):c.1971T>C (p.Tyr657=)
|
rs970623100
|
0.00001
|
NM_004369.4(COL6A3):c.2027T>G (p.Ile676Ser)
|
rs771749492
|
0.00001
|
NM_004369.4(COL6A3):c.2133C>T (p.Leu711=)
|
rs1166349776
|
0.00001
|
NM_004369.4(COL6A3):c.2148C>T (p.Gly716=)
|
rs1204913393
|
0.00001
|
NM_004369.4(COL6A3):c.2232G>A (p.Pro744=)
|
rs368826874
|
0.00001
|
NM_004369.4(COL6A3):c.2261A>G (p.Gln754Arg)
|
rs762752112
|
0.00001
|
NM_004369.4(COL6A3):c.2307G>A (p.Ala769=)
|
rs780578768
|
0.00001
|
NM_004369.4(COL6A3):c.2324G>A (p.Cys775Tyr)
|
rs756337970
|
0.00001
|
NM_004369.4(COL6A3):c.2342C>T (p.Ala781Val)
|
rs116753562
|
0.00001
|
NM_004369.4(COL6A3):c.2352A>G (p.Ala784=)
|
rs759099641
|
0.00001
|
NM_004369.4(COL6A3):c.2376C>T (p.Asn792=)
|
rs1038000360
|
0.00001
|
NM_004369.4(COL6A3):c.2400T>A (p.Asp800Glu)
|
rs374774989
|
0.00001
|
NM_004369.4(COL6A3):c.2487C>T (p.Leu829=)
|
rs752530417
|
0.00001
|
NM_004369.4(COL6A3):c.2505G>A (p.Lys835=)
|
rs892390706
|
0.00001
|
NM_004369.4(COL6A3):c.2512A>T (p.Ile838Phe)
|
rs1455744375
|
0.00001
|
NM_004369.4(COL6A3):c.2589C>T (p.Ile863=)
|
rs376409920
|
0.00001
|
NM_004369.4(COL6A3):c.2601T>C (p.Asn867=)
|
rs764115723
|
0.00001
|
NM_004369.4(COL6A3):c.2628G>A (p.Ala876=)
|
rs919417658
|
0.00001
|
NM_004369.4(COL6A3):c.262C>T (p.His88Tyr)
|
rs773999183
|
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.2796T>C (p.Ala932=)
|
rs1158876557
|
0.00001
|
NM_004369.4(COL6A3):c.2808C>T (p.Ile936=)
|
rs116256579
|
0.00001
|
NM_004369.4(COL6A3):c.2830C>T (p.Leu944=)
|
rs886470638
|
0.00001
|
NM_004369.4(COL6A3):c.2845G>A (p.Ala949Thr)
|
rs374960915
|
0.00001
|
NM_004369.4(COL6A3):c.2847A>G (p.Ala949=)
|
rs746610835
|
0.00001
|
NM_004369.4(COL6A3):c.284C>T (p.Thr95Met)
|
rs769697782
|
0.00001
|
NM_004369.4(COL6A3):c.290G>A (p.Arg97His)
|
rs201249839
|
0.00001
|
NM_004369.4(COL6A3):c.2932G>A (p.Ala978Thr)
|
rs768292803
|
0.00001
|
NM_004369.4(COL6A3):c.2959G>A (p.Val987Met)
|
rs140437593
|
0.00001
|
NM_004369.4(COL6A3):c.2973G>A (p.Ala991=)
|
rs541545591
|
0.00001
|
NM_004369.4(COL6A3):c.3012T>C (p.Asp1004=)
|
rs745661734
|
0.00001
|
NM_004369.4(COL6A3):c.3070+4T>C
|
rs201456189
|
0.00001
|
NM_004369.4(COL6A3):c.3071-21_3071-18dup
|
rs1321741683
|
0.00001
|
NM_004369.4(COL6A3):c.3071-7C>G
|
rs370229367
|
0.00001
|
NM_004369.4(COL6A3):c.3117C>T (p.Gly1039=)
|
rs922629653
|
0.00001
|
NM_004369.4(COL6A3):c.3126C>T (p.Ser1042=)
|
rs372619164
|
0.00001
|
NM_004369.4(COL6A3):c.3198C>T (p.Arg1066=)
|
rs200621867
|
0.00001
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
NM_004369.4(COL6A3):c.3234C>T (p.Pro1078=)
|
rs777909478
|
0.00001
|
NM_004369.4(COL6A3):c.3280G>A (p.Ala1094Thr)
|
rs369460632
|
0.00001
|
NM_004369.4(COL6A3):c.3414C>T (p.Val1138=)
|
rs1022815311
|
0.00001
|
NM_004369.4(COL6A3):c.345C>A (p.Thr115=)
|
rs371958092
|
0.00001
|
NM_004369.4(COL6A3):c.3462C>T (p.Val1154=)
|
rs762152367
|
0.00001
|
NM_004369.4(COL6A3):c.3470G>T (p.Arg1157Met)
|
rs727502838
|
0.00001
|
NM_004369.4(COL6A3):c.3501C>T (p.Ile1167=)
|
rs199998363
|
0.00001
|
NM_004369.4(COL6A3):c.3549C>G (p.Asp1183Glu)
|
rs762240306
|
0.00001
|
NM_004369.4(COL6A3):c.3630C>T (p.Arg1210=)
|
rs757349824
|
0.00001
|
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro)
|
rs772944531
|
0.00001
|
NM_004369.4(COL6A3):c.3714C>T (p.Ile1238=)
|
rs150911180
|
0.00001
|
NM_004369.4(COL6A3):c.3738T>C (p.Pro1246=)
|
rs927612906
|
0.00001
|
NM_004369.4(COL6A3):c.3808C>T (p.Arg1270Trp)
|
rs781735632
|
0.00001
|
NM_004369.4(COL6A3):c.3810G>C (p.Arg1270=)
|
rs886042792
|
0.00001
|
NM_004369.4(COL6A3):c.3841A>G (p.Lys1281Glu)
|
rs886043888
|
0.00001
|
NM_004369.4(COL6A3):c.3989G>C (p.Ser1330Thr)
|
rs779967310
|
0.00001
|
NM_004369.4(COL6A3):c.4021G>A (p.Val1341Ile)
|
rs1220087503
|
0.00001
|
NM_004369.4(COL6A3):c.4031C>T (p.Ser1344Leu)
|
rs777759049
|
0.00001
|
NM_004369.4(COL6A3):c.4059C>T (p.Asp1353=)
|
rs765355858
|
0.00001
|
NM_004369.4(COL6A3):c.4065G>A (p.Pro1355=)
|
rs766856187
|
0.00001
|
NM_004369.4(COL6A3):c.4068G>A (p.Ala1356=)
|
rs772443916
|
0.00001
|
NM_004369.4(COL6A3):c.4072G>A (p.Glu1358Lys)
|
rs762544728
|
0.00001
|
NM_004369.4(COL6A3):c.4085T>A (p.Phe1362Tyr)
|
rs745420792
|
0.00001
|
NM_004369.4(COL6A3):c.409C>T (p.Arg137Trp)
|
rs143819673
|
0.00001
|
NM_004369.4(COL6A3):c.4104G>A (p.Thr1368=)
|
rs777649526
|
0.00001
|
NM_004369.4(COL6A3):c.410G>A (p.Arg137Gln)
|
rs779126378
|
0.00001
|
NM_004369.4(COL6A3):c.413C>T (p.Ala138Val)
|
rs1167973119
|
0.00001
|
NM_004369.4(COL6A3):c.4145C>T (p.Ser1382Leu)
|
rs767829363
|
0.00001
|
NM_004369.4(COL6A3):c.420C>T (p.Asp140=)
|
rs909857244
|
0.00001
|
NM_004369.4(COL6A3):c.421G>A (p.Gly141Arg)
|
rs398124120
|
0.00001
|
NM_004369.4(COL6A3):c.4221C>G (p.Pro1407=)
|
rs565366400
|
0.00001
|
NM_004369.4(COL6A3):c.4240G>C (p.Glu1414Gln)
|
rs539986030
|
0.00001
|
NM_004369.4(COL6A3):c.4263C>T (p.Ala1421=)
|
rs748103971
|
0.00001
|
NM_004369.4(COL6A3):c.4270C>T (p.Arg1424Cys)
|
rs768522226
|
0.00001
|
NM_004369.4(COL6A3):c.4285+7T>C
|
rs781660921
|
0.00001
|
NM_004369.4(COL6A3):c.4286-4G>A
|
rs779028717
|
0.00001
|
NM_004369.4(COL6A3):c.4318C>G (p.Leu1440Val)
|
rs1335664006
|
0.00001
|
NM_004369.4(COL6A3):c.4323C>T (p.Ile1441=)
|
rs747160916
|
0.00001
|
NM_004369.4(COL6A3):c.4425T>C (p.Val1475=)
|
rs779603740
|
0.00001
|
NM_004369.4(COL6A3):c.4448A>T (p.Asp1483Val)
|
rs114736729
|
0.00001
|
NM_004369.4(COL6A3):c.4491C>T (p.Ala1497=)
|
rs558665283
|
0.00001
|
NM_004369.4(COL6A3):c.4497G>A (p.Val1499=)
|
rs749820906
|
0.00001
|
NM_004369.4(COL6A3):c.4513C>T (p.Arg1505Cys)
|
rs778816180
|
0.00001
|
NM_004369.4(COL6A3):c.4514G>A (p.Arg1505His)
|
rs754840728
|
0.00001
|
NM_004369.4(COL6A3):c.4524C>G (p.Leu1508=)
|
rs755902927
|
0.00001
|
NM_004369.4(COL6A3):c.4561G>A (p.Glu1521Lys)
|
rs113538665
|
0.00001
|
NM_004369.4(COL6A3):c.4599G>A (p.Gly1533=)
|
rs778335651
|
0.00001
|
NM_004369.4(COL6A3):c.4617G>A (p.Gly1539=)
|
rs1420997887
|
0.00001
|
NM_004369.4(COL6A3):c.465G>A (p.Lys155=)
|
rs771817420
|
0.00001
|
NM_004369.4(COL6A3):c.4690C>T (p.Arg1564Cys)
|
rs200825417
|
0.00001
|
NM_004369.4(COL6A3):c.4726C>T (p.Arg1576Trp)
|
rs773979979
|
0.00001
|
NM_004369.4(COL6A3):c.4734C>T (p.Ile1578=)
|
rs774809714
|
0.00001
|
NM_004369.4(COL6A3):c.4774C>A (p.Leu1592Met)
|
rs1211026126
|
0.00001
|
NM_004369.4(COL6A3):c.482C>T (p.Pro161Leu)
|
rs1190967394
|
0.00001
|
NM_004369.4(COL6A3):c.4835C>T (p.Ser1612Leu)
|
rs201532239
|
0.00001
|
NM_004369.4(COL6A3):c.4842A>G (p.Gly1614=)
|
rs199531763
|
0.00001
|
NM_004369.4(COL6A3):c.486A>G (p.Ser162=)
|
rs1477252497
|
0.00001
|
NM_004369.4(COL6A3):c.4880C>A (p.Thr1627Asn)
|
rs149261556
|
0.00001
|
NM_004369.4(COL6A3):c.4932G>A (p.Leu1644=)
|
rs750374768
|
0.00001
|
NM_004369.4(COL6A3):c.4935T>C (p.Asp1645=)
|
rs767560639
|
0.00001
|
NM_004369.4(COL6A3):c.5127G>A (p.Val1709=)
|
rs747509514
|
0.00001
|
NM_004369.4(COL6A3):c.5162T>C (p.Val1721Ala)
|
rs752418797
|
0.00001
|
NM_004369.4(COL6A3):c.5163G>A (p.Val1721=)
|
rs759703082
|
0.00001
|
NM_004369.4(COL6A3):c.522A>G (p.Ala174=)
|
rs1477904627
|
0.00001
|
NM_004369.4(COL6A3):c.5234A>G (p.Gln1745Arg)
|
rs756781502
|
0.00001
|
NM_004369.4(COL6A3):c.5244T>A (p.Phe1748Leu)
|
rs777266074
|
0.00001
|
NM_004369.4(COL6A3):c.5348C>T (p.Ser1783Leu)
|
rs1271500443
|
0.00001
|
NM_004369.4(COL6A3):c.5450A>G (p.His1817Arg)
|
rs1375661246
|
0.00001
|
NM_004369.4(COL6A3):c.5457G>A (p.Ala1819=)
|
rs377249790
|
0.00001
|
NM_004369.4(COL6A3):c.5501-9C>A
|
rs1426149492
|
0.00001
|
NM_004369.4(COL6A3):c.5555T>C (p.Phe1852Ser)
|
rs148488423
|
0.00001
|
NM_004369.4(COL6A3):c.5574C>T (p.Phe1858=)
|
rs114259747
|
0.00001
|
NM_004369.4(COL6A3):c.5641C>T (p.Arg1881Cys)
|
rs772269570
|
0.00001
|
NM_004369.4(COL6A3):c.5646G>A (p.Ser1882=)
|
rs886055807
|
0.00001
|
NM_004369.4(COL6A3):c.5646G>T (p.Ser1882=)
|
rs886055807
|
0.00001
|
NM_004369.4(COL6A3):c.5649C>A (p.Pro1883=)
|
rs886044430
|
0.00001
|
NM_004369.4(COL6A3):c.5718C>T (p.Tyr1906=)
|
rs200999503
|
0.00001
|
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu)
|
rs563800854
|
0.00001
|
NM_004369.4(COL6A3):c.5770G>A (p.Val1924Ile)
|
rs778162038
|
0.00001
|
NM_004369.4(COL6A3):c.5775C>T (p.Leu1925=)
|
rs764231408
|
0.00001
|
NM_004369.4(COL6A3):c.5778G>A (p.Thr1926=)
|
rs555406717
|
0.00001
|
NM_004369.4(COL6A3):c.5811C>T (p.Phe1937=)
|
rs771317034
|
0.00001
|
NM_004369.4(COL6A3):c.5826G>A (p.Pro1942=)
|
rs113283088
|
0.00001
|
NM_004369.4(COL6A3):c.5832C>T (p.Ser1944=)
|
rs2077534219
|
0.00001
|
NM_004369.4(COL6A3):c.5838+7G>C
|
rs369931091
|
0.00001
|
NM_004369.4(COL6A3):c.5910C>T (p.Arg1970=)
|
rs727503884
|
0.00001
|
NM_004369.4(COL6A3):c.6040G>T (p.Asp2014Tyr)
|
rs376548186
|
0.00001
|
NM_004369.4(COL6A3):c.6064-4G>A
|
rs762819140
|
0.00001
|
NM_004369.4(COL6A3):c.6129C>T (p.Arg2043=)
|
rs576524993
|
0.00001
|
NM_004369.4(COL6A3):c.6156+16C>T
|
rs779455691
|
0.00001
|
NM_004369.4(COL6A3):c.6159T>C (p.Gly2053=)
|
rs1172901266
|
0.00001
|
NM_004369.4(COL6A3):c.6174C>T (p.Asp2058=)
|
rs777351827
|
0.00001
|
NM_004369.4(COL6A3):c.6255G>A (p.Gln2085=)
|
rs777097924
|
0.00001
|
NM_004369.4(COL6A3):c.6264G>A (p.Pro2088=)
|
rs1156803322
|
0.00001
|
NM_004369.4(COL6A3):c.6282+9T>C
|
rs1038994935
|
0.00001
|
NM_004369.4(COL6A3):c.630A>G (p.Val210=)
|
rs914512334
|
0.00001
|
NM_004369.4(COL6A3):c.6354+16C>T
|
rs1314468175
|
0.00001
|
NM_004369.4(COL6A3):c.6372T>C (p.Pro2124=)
|
rs894679602
|
0.00001
|
NM_004369.4(COL6A3):c.6471+8T>C
|
rs747540355
|
0.00001
|
NM_004369.4(COL6A3):c.6472-13A>G
|
rs1156922421
|
0.00001
|
NM_004369.4(COL6A3):c.64A>G (p.Thr22Ala)
|
rs774784273
|
0.00001
|
NM_004369.4(COL6A3):c.6519C>T (p.Thr2173=)
|
rs776493521
|
0.00001
|
NM_004369.4(COL6A3):c.6592-3C>T
|
rs760143724
|
0.00001
|
NM_004369.4(COL6A3):c.6691-8T>G
|
rs1308697483
|
0.00001
|
NM_004369.4(COL6A3):c.6754-9C>G
|
rs886038542
|
0.00001
|
NM_004369.4(COL6A3):c.6766G>A (p.Ala2256Thr)
|
rs745877985
|
0.00001
|
NM_004369.4(COL6A3):c.6861G>A (p.Arg2287=)
|
rs551512561
|
0.00001
|
NM_004369.4(COL6A3):c.6879+16G>A
|
rs915585400
|
0.00001
|
NM_004369.4(COL6A3):c.6897C>T (p.Asp2299=)
|
rs764508785
|
0.00001
|
NM_004369.4(COL6A3):c.6966+10C>G
|
rs995436631
|
0.00001
|
NM_004369.4(COL6A3):c.6978T>C (p.Gly2326=)
|
rs755565292
|
0.00001
|
NM_004369.4(COL6A3):c.7038G>A (p.Ser2346=)
|
rs773164702
|
0.00001
|
NM_004369.4(COL6A3):c.709+8C>T
|
rs779535244
|
0.00001
|
NM_004369.4(COL6A3):c.7158A>G (p.Lys2386=)
|
rs376714139
|
0.00001
|
NM_004369.4(COL6A3):c.7188C>T (p.Cys2396=)
|
rs1383762763
|
0.00001
|
NM_004369.4(COL6A3):c.721G>A (p.Ala241Thr)
|
rs1559271365
|
0.00001
|
NM_004369.4(COL6A3):c.7255G>A (p.Gly2419Ser)
|
rs749446863
|
0.00001
|
NM_004369.4(COL6A3):c.7275C>T (p.Val2425=)
|
rs749075993
|
0.00001
|
NM_004369.4(COL6A3):c.7308G>A (p.Glu2436=)
|
rs750552221
|
0.00001
|
NM_004369.4(COL6A3):c.7322G>A (p.Arg2441Gln)
|
rs753090057
|
0.00001
|
NM_004369.4(COL6A3):c.7368G>A (p.Thr2456=)
|
rs778474394
|
0.00001
|
NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His)
|
rs541928674
|
0.00001
|
NM_004369.4(COL6A3):c.7575G>A (p.Gln2525=)
|
rs752232293
|
0.00001
|
NM_004369.4(COL6A3):c.7612A>G (p.Ile2538Val)
|
rs770214397
|
0.00001
|
NM_004369.4(COL6A3):c.7668+18G>A
|
rs1234167823
|
0.00001
|
NM_004369.4(COL6A3):c.7713G>A (p.Gly2571=)
|
rs756140209
|
0.00001
|
NM_004369.4(COL6A3):c.7766-14A>C
|
rs745793481
|
0.00001
|
NM_004369.4(COL6A3):c.7833G>A (p.Ala2611=)
|
rs535306425
|
0.00001
|
NM_004369.4(COL6A3):c.7878C>T (p.Ser2626=)
|
rs145136426
|
0.00001
|
NM_004369.4(COL6A3):c.807T>C (p.Leu269=)
|
rs776357610
|
0.00001
|
NM_004369.4(COL6A3):c.810G>T (p.Glu270Asp)
|
rs964222724
|
0.00001
|
NM_004369.4(COL6A3):c.8147G>T (p.Gly2716Val)
|
rs1311630536
|
0.00001
|
NM_004369.4(COL6A3):c.8158G>A (p.Glu2720Lys)
|
rs368129741
|
0.00001
|
NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=)
|
rs769124771
|
0.00001
|
NM_004369.4(COL6A3):c.8337C>T (p.Asn2779=)
|
rs1338421880
|
0.00001
|
NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=)
|
rs772967228
|
0.00001
|
NM_004369.4(COL6A3):c.837C>T (p.Ile279=)
|
rs772888162
|
0.00001
|
NM_004369.4(COL6A3):c.8385C>T (p.Phe2795=)
|
rs201460305
|
0.00001
|
NM_004369.4(COL6A3):c.8406C>T (p.Thr2802=)
|
rs572018781
|
0.00001
|
NM_004369.4(COL6A3):c.8416G>A (p.Glu2806Lys)
|
rs775200499
|
0.00001
|
NM_004369.4(COL6A3):c.8465-20T>C
|
rs746788651
|
0.00001
|
NM_004369.4(COL6A3):c.8478T>C (p.Phe2826=)
|
rs748250269
|
0.00001
|
NM_004369.4(COL6A3):c.8568-9T>C
|
rs1369507012
|
0.00001
|
NM_004369.4(COL6A3):c.8615C>T (p.Thr2872Met)
|
rs759009226
|
0.00001
|
NM_004369.4(COL6A3):c.8622G>A (p.Thr2874=)
|
rs766330730
|
0.00001
|
NM_004369.4(COL6A3):c.8634T>C (p.Thr2878=)
|
rs768887961
|
0.00001
|
NM_004369.4(COL6A3):c.8743G>A (p.Ala2915Thr)
|
rs377528704
|
0.00001
|
NM_004369.4(COL6A3):c.8895C>A (p.Thr2965=)
|
rs114008087
|
0.00001
|
NM_004369.4(COL6A3):c.8903A>C (p.Glu2968Ala)
|
rs758363294
|
0.00001
|
NM_004369.4(COL6A3):c.8907C>T (p.Val2969=)
|
rs201605617
|
0.00001
|
NM_004369.4(COL6A3):c.8924C>T (p.Ala2975Val)
|
rs557120711
|
0.00001
|
NM_004369.4(COL6A3):c.8977C>T (p.Arg2993Cys)
|
rs148318789
|
0.00001
|
NM_004369.4(COL6A3):c.9005A>G (p.Glu3002Gly)
|
rs747642083
|
0.00001
|
NM_004369.4(COL6A3):c.9070G>A (p.Val3024Ile)
|
rs769756403
|
0.00001
|
NM_004369.4(COL6A3):c.907G>T (p.Ala303Ser)
|
rs1162064854
|
0.00001
|
NM_004369.4(COL6A3):c.9122C>T (p.Thr3041Met)
|
rs754218170
|
0.00001
|
NM_004369.4(COL6A3):c.9209A>G (p.Tyr3070Cys)
|
rs368568929
|
0.00001
|
NM_004369.4(COL6A3):c.920G>A (p.Gly307Asp)
|
rs149412478
|
0.00001
|
NM_004369.4(COL6A3):c.922G>A (p.Ala308Thr)
|
rs779867515
|
0.00001
|
NM_004369.4(COL6A3):c.9316C>T (p.Leu3106Phe)
|
rs112455407
|
0.00001
|
NM_004369.4(COL6A3):c.9328+8G>T
|
rs770383420
|
0.00001
|
NM_004369.4(COL6A3):c.9329-4A>T
|
rs199800564
|
0.00001
|
NM_004369.4(COL6A3):c.976C>G (p.Leu326Val)
|
rs773786663
|
0.00001
|
NM_004369.4(COL6A3):c.984C>T (p.Phe328=)
|
rs768609958
|
0.00001
|
NM_004369.4(COL6A3):c.1022G>T (p.Arg341Leu)
|
rs140510298
|
|
NM_004369.4(COL6A3):c.1077T>C (p.Ser359=)
|
rs886044010
|
|
NM_004369.4(COL6A3):c.108G>A (p.Ala36=)
|
rs374055173
|
|
NM_004369.4(COL6A3):c.108G>T (p.Ala36=)
|
rs374055173
|
|
NM_004369.4(COL6A3):c.1095G>C (p.Gly365=)
|
rs535498742
|
|
NM_004369.4(COL6A3):c.1103C>T (p.Ala368Val)
|
|
|
NM_004369.4(COL6A3):c.1104A>C (p.Ala368=)
|
|
|
NM_004369.4(COL6A3):c.1107G>A (p.Leu369=)
|
rs2106378535
|
|
NM_004369.4(COL6A3):c.1119C>T (p.Ser373=)
|
|
|
NM_004369.4(COL6A3):c.1185T>C (p.Asp395=)
|
|
|
NM_004369.4(COL6A3):c.118A>G (p.Ile40Val)
|
|
|
NM_004369.4(COL6A3):c.1197G>A (p.Val399=)
|
|
|
NM_004369.4(COL6A3):c.11A>G (p.His4Arg)
|
|
|
NM_004369.4(COL6A3):c.11A>T (p.His4Leu)
|
rs777465480
|
|
NM_004369.4(COL6A3):c.1209G>A (p.Pro403=)
|
|
|
NM_004369.4(COL6A3):c.1212A>G (p.Glu404=)
|
|
|
NM_004369.4(COL6A3):c.1227G>A (p.Gly409=)
|
|
|
NM_004369.4(COL6A3):c.1243T>C (p.Leu415=)
|
|
|
NM_004369.4(COL6A3):c.1250C>T (p.Pro417Leu)
|
|
|
NM_004369.4(COL6A3):c.1251G>A (p.Pro417=)
|
rs1162933726
|
|
NM_004369.4(COL6A3):c.1279A>G (p.Ile427Val)
|
|
|
NM_004369.4(COL6A3):c.1293G>T (p.Pro431=)
|
|
|
NM_004369.4(COL6A3):c.1312+12C>A
|
rs915562937
|
|
NM_004369.4(COL6A3):c.1312+12C>G
|
|
|
NM_004369.4(COL6A3):c.1312+19C>G
|
|
|
NM_004369.4(COL6A3):c.1323C>T (p.Val441=)
|
|
|
NM_004369.4(COL6A3):c.1335C>T (p.Asp445=)
|
|
|
NM_004369.4(COL6A3):c.1344C>T (p.Phe448=)
|
rs2106370423
|
|
NM_004369.4(COL6A3):c.1347G>A (p.Leu449=)
|
|
|
NM_004369.4(COL6A3):c.1350G>A (p.Val450=)
|
rs886043010
|
|
NM_004369.4(COL6A3):c.1372C>T (p.Leu458=)
|
|
|
NM_004369.4(COL6A3):c.141T>C (p.Ser47=)
|
rs2078403487
|
|
NM_004369.4(COL6A3):c.1452G>T (p.Val484=)
|
rs1574726196
|
|
NM_004369.4(COL6A3):c.1455A>T (p.Ala485=)
|
|
|
NM_004369.4(COL6A3):c.1494T>C (p.Tyr498=)
|
|
|
NM_004369.4(COL6A3):c.1512A>G (p.Thr504=)
|
rs199969722
|
|
NM_004369.4(COL6A3):c.1512A>T (p.Thr504=)
|
rs199969722
|
|
NM_004369.4(COL6A3):c.1521A>G (p.Glu507=)
|
rs1259919285
|
|
NM_004369.4(COL6A3):c.1531G>A (p.Ala511Thr)
|
|
|
NM_004369.4(COL6A3):c.1533T>C (p.Ala511=)
|
rs2106370154
|
|
NM_004369.4(COL6A3):c.1537C>T (p.Arg513Trp)
|
rs369379463
|
|
NM_004369.4(COL6A3):c.1551C>G (p.Pro517=)
|
rs764955459
|
|
NM_004369.4(COL6A3):c.1560C>T (p.Gly520=)
|
rs2106370096
|
|
NM_004369.4(COL6A3):c.1587A>T (p.Leu529=)
|
rs574912582
|
|
NM_004369.4(COL6A3):c.159A>G (p.Glu53=)
|
rs1259558140
|
|
NM_004369.4(COL6A3):c.1616G>C (p.Ser539Thr)
|
|
|
NM_004369.4(COL6A3):c.1624G>C (p.Gly542Arg)
|
|
|
NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp)
|
|
|
NM_004369.4(COL6A3):c.1654C>T (p.Leu552Phe)
|
|
|
NM_004369.4(COL6A3):c.1656T>G (p.Leu552=)
|
rs141939225
|
|
NM_004369.4(COL6A3):c.1665G>T (p.Leu555=)
|
|
|
NM_004369.4(COL6A3):c.1689T>C (p.Asp563=)
|
rs1256532267
|
|
NM_004369.4(COL6A3):c.1785C>G (p.Ile595Met)
|
rs114278376
|
|
NM_004369.4(COL6A3):c.1791C>A (p.Phe597Leu)
|
rs76576170
|
|
NM_004369.4(COL6A3):c.1825C>A (p.Arg609=)
|
|
|
NM_004369.4(COL6A3):c.182T>C (p.Phe61Ser)
|
rs375649083
|
|
NM_004369.4(COL6A3):c.1830C>A (p.Ala610=)
|
rs756709812
|
|
NM_004369.4(COL6A3):c.1833C>A (p.Ala611=)
|
|
|
NM_004369.4(COL6A3):c.1839G>A (p.Leu613=)
|
|
|
NM_004369.4(COL6A3):c.184C>T (p.Leu62=)
|
|
|
NM_004369.4(COL6A3):c.1886G>A (p.Gly629Glu)
|
|
|
NM_004369.4(COL6A3):c.1897+16C>G
|
|
|
NM_004369.4(COL6A3):c.1898-10T>C
|
rs573663410
|
|
NM_004369.4(COL6A3):c.1948G>A (p.Val650Ile)
|
rs149187225
|
|
NM_004369.4(COL6A3):c.1962T>C (p.Asn654=)
|
rs1574721263
|
|
NM_004369.4(COL6A3):c.2047T>C (p.Phe683Leu)
|
|
|
NM_004369.4(COL6A3):c.2061T>A (p.Pro687=)
|
rs767818130
|
|
NM_004369.4(COL6A3):c.2067G>A (p.Thr689=)
|
rs1372723004
|
|
NM_004369.4(COL6A3):c.211G>A (p.Val71Met)
|
|
|
NM_004369.4(COL6A3):c.2144C>G (p.Ser715Trp)
|
|
|
NM_004369.4(COL6A3):c.2145G>A (p.Ser715=)
|
rs375924639
|
|
NM_004369.4(COL6A3):c.2145G>C (p.Ser715=)
|
rs375924639
|
|
NM_004369.4(COL6A3):c.2145G>T (p.Ser715=)
|
rs375924639
|
|
NM_004369.4(COL6A3):c.2180A>C (p.Tyr727Ser)
|
rs113393241
|
|
NM_004369.4(COL6A3):c.2184C>T (p.Ala728=)
|
|
|
NM_004369.4(COL6A3):c.2193C>T (p.Phe731=)
|
|
|
NM_004369.4(COL6A3):c.2217C>A (p.Ile739=)
|
|
|
NM_004369.4(COL6A3):c.2226C>T (p.His742=)
|
rs376627571
|
|
NM_004369.4(COL6A3):c.2227G>A (p.Val743Met)
|
|
|
NM_004369.4(COL6A3):c.2241G>A (p.Leu747=)
|
rs766815447
|
|
NM_004369.4(COL6A3):c.2262G>A (p.Gln754=)
|
|
|
NM_004369.4(COL6A3):c.2276A>G (p.Tyr759Cys)
|
|
|
NM_004369.4(COL6A3):c.2289C>T (p.Ala763=)
|
|
|
NM_004369.4(COL6A3):c.2293G>A (p.Ala765Thr)
|
|
|
NM_004369.4(COL6A3):c.22C>G (p.Pro8Ala)
|
|
|
NM_004369.4(COL6A3):c.2304C>T (p.Arg768=)
|
|
|
NM_004369.4(COL6A3):c.2316G>A (p.Leu772=)
|
rs2077920362
|
|
NM_004369.4(COL6A3):c.231T>C (p.His77=)
|
|
|
NM_004369.4(COL6A3):c.2395A>G (p.Met799Val)
|
rs1559257612
|
|
NM_004369.4(COL6A3):c.2412C>T (p.Ser804=)
|
|
|
NM_004369.4(COL6A3):c.2457T>C (p.Tyr819=)
|
rs2106366549
|
|
NM_004369.4(COL6A3):c.2493G>A (p.Gln831=)
|
rs988131438
|
|
NM_004369.4(COL6A3):c.2497+17G>T
|
|
|
NM_004369.4(COL6A3):c.2497+7C>A
|
rs2077913887
|
|
NM_004369.4(COL6A3):c.2497+8T>C
|
rs2106366476
|
|
NM_004369.4(COL6A3):c.2497+9C>T
|
rs774198344
|
|
NM_004369.4(COL6A3):c.2498-15del
|
|
|
NM_004369.4(COL6A3):c.2517G>A (p.Leu839=)
|
rs187237497
|
|
NM_004369.4(COL6A3):c.2517G>C (p.Leu839=)
|
|
|
NM_004369.4(COL6A3):c.2595G>A (p.Glu865=)
|
|
|
NM_004369.4(COL6A3):c.2604G>A (p.Val868=)
|
|
|
NM_004369.4(COL6A3):c.2612A>G (p.Glu871Gly)
|
|
|
NM_004369.4(COL6A3):c.2613G>A (p.Glu871=)
|
rs1559255553
|
|
NM_004369.4(COL6A3):c.2688G>A (p.Lys896=)
|
rs2106364617
|
|
NM_004369.4(COL6A3):c.2724C>G (p.Ile908Met)
|
|
|
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met)
|
rs189356869
|
|
NM_004369.4(COL6A3):c.2739C>A (p.Ala913=)
|
|
|
NM_004369.4(COL6A3):c.2739C>T (p.Ala913=)
|
|
|
NM_004369.4(COL6A3):c.2751C>T (p.Gly917=)
|
|
|
NM_004369.4(COL6A3):c.2766T>C (p.Tyr922=)
|
|
|
NM_004369.4(COL6A3):c.2790G>A (p.Lys930=)
|
|
|
NM_004369.4(COL6A3):c.2794G>C (p.Ala932Pro)
|
|
|
NM_004369.4(COL6A3):c.2808C>A (p.Ile936=)
|
rs116256579
|
|
NM_004369.4(COL6A3):c.2809G>A (p.Glu937Lys)
|
rs774872934
|
|
NM_004369.4(COL6A3):c.2826G>A (p.Gln942=)
|
|
|
NM_004369.4(COL6A3):c.2835G>A (p.Val945=)
|
|
|
NM_004369.4(COL6A3):c.2844C>T (p.Val948=)
|
|
|
NM_004369.4(COL6A3):c.2862C>T (p.Asp954=)
|
|
|
NM_004369.4(COL6A3):c.2937C>A (p.Asp979Glu)
|
rs763515820
|
|
NM_004369.4(COL6A3):c.295A>G (p.Lys99Glu)
|
|
|
NM_004369.4(COL6A3):c.2980C>T (p.Leu994=)
|
|
|
NM_004369.4(COL6A3):c.3021A>T (p.Pro1007=)
|
|
|
NM_004369.4(COL6A3):c.3042A>G (p.Lys1014=)
|
rs915245460
|
|
NM_004369.4(COL6A3):c.3045A>G (p.Ser1015=)
|
rs886042836
|
|
NM_004369.4(COL6A3):c.3071-11C>T
|
|
|
NM_004369.4(COL6A3):c.3071-13G>C
|
|
|
NM_004369.4(COL6A3):c.3071-6T>C
|
|
|
NM_004369.4(COL6A3):c.3071-7C>T
|
rs370229367
|
|
NM_004369.4(COL6A3):c.3105T>C (p.Asp1035=)
|
rs2077798088
|
|
NM_004369.4(COL6A3):c.3108C>T (p.Gly1036=)
|
|
|
NM_004369.4(COL6A3):c.3135T>G (p.Pro1045=)
|
rs2106361675
|
|
NM_004369.4(COL6A3):c.3138G>T (p.Leu1046=)
|
rs780402445
|
|
NM_004369.4(COL6A3):c.3162G>A (p.Val1054=)
|
|
|
NM_004369.4(COL6A3):c.3165G>A (p.Val1055=)
|
|
|
NM_004369.4(COL6A3):c.3171C>A (p.Ser1057Arg)
|
|
|
NM_004369.4(COL6A3):c.3189C>T (p.Asp1063=)
|
|
|
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met)
|
rs148175795
|
|
NM_004369.4(COL6A3):c.3223C>A (p.Arg1075=)
|
rs201962257
|
|
NM_004369.4(COL6A3):c.3231G>A (p.Arg1077=)
|
|
|
NM_004369.4(COL6A3):c.3235G>A (p.Glu1079Lys)
|
rs762778512
|
|
NM_004369.4(COL6A3):c.3252A>G (p.Ser1084=)
|
|
|
NM_004369.4(COL6A3):c.3261C>T (p.Asn1087=)
|
|
|
NM_004369.4(COL6A3):c.3273C>A (p.Val1091=)
|
rs200562443
|
|
NM_004369.4(COL6A3):c.3312G>A (p.Pro1104=)
|
|
|
NM_004369.4(COL6A3):c.3320A>T (p.Asn1107Ile)
|
|
|
NM_004369.4(COL6A3):c.3354C>T (p.Asn1118=)
|
|
|
NM_004369.4(COL6A3):c.3371C>A (p.Ala1124Glu)
|
|
|
NM_004369.4(COL6A3):c.3372G>A (p.Ala1124=)
|
rs772443564
|
|
NM_004369.4(COL6A3):c.3382A>G (p.Ile1128Val)
|
rs372844024
|
|
NM_004369.4(COL6A3):c.3387A>T (p.Thr1129=)
|
|
|
NM_004369.4(COL6A3):c.33C>T (p.Ala11=)
|
rs761011715
|
|
NM_004369.4(COL6A3):c.3441T>C (p.Asp1147=)
|
|
|
NM_004369.4(COL6A3):c.3483G>T (p.Val1161=)
|
|
|
NM_004369.4(COL6A3):c.3495T>A (p.Ile1165=)
|
|
|
NM_004369.4(COL6A3):c.3498C>A (p.Gly1166=)
|
rs1553560457
|
|
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe)
|
rs886042996
|
|
NM_004369.4(COL6A3):c.3542T>G (p.Ile1181Ser)
|
rs920105033
|
|
NM_004369.4(COL6A3):c.3543C>T (p.Ile1181=)
|
|
|
NM_004369.4(COL6A3):c.3582G>A (p.Leu1194=)
|
|
|
NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile)
|
rs748053172
|
|
NM_004369.4(COL6A3):c.3600C>T (p.Val1200=)
|
rs768543487
|
|
NM_004369.4(COL6A3):c.3605C>A (p.Ser1202Tyr)
|
rs2106360836
|
|
NM_004369.4(COL6A3):c.3651G>A (p.Gln1217=)
|
rs115065877
|
|
NM_004369.4(COL6A3):c.3666T>C (p.Pro1222=)
|
|
|
NM_004369.4(COL6A3):c.3672G>A (p.Pro1224=)
|
rs547052866
|
|
NM_004369.4(COL6A3):c.3679+10G>A
|
|
|
NM_004369.4(COL6A3):c.3679+13C>T
|
|
|
NM_004369.4(COL6A3):c.3679+14T>G
|
|
|
NM_004369.4(COL6A3):c.3679+17_3679+18del
|
rs759774701
|
|
NM_004369.4(COL6A3):c.3679+9G>A
|
|
|
NM_004369.4(COL6A3):c.3680-18C>T
|
|
|
NM_004369.4(COL6A3):c.3720G>A (p.Gly1240=)
|
|
|
NM_004369.4(COL6A3):c.3741G>A (p.Glu1247=)
|
rs577927810
|
|
NM_004369.4(COL6A3):c.3747G>C (p.Gln1249His)
|
|
|
NM_004369.4(COL6A3):c.3751G>T (p.Val1251Phe)
|
rs199646208
|
|
NM_004369.4(COL6A3):c.3795C>A (p.Gly1265=)
|
rs886055808
|
|
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met)
|
rs535661345
|
|
NM_004369.4(COL6A3):c.384C>T (p.Ser128=)
|
|
|
NM_004369.4(COL6A3):c.3852C>A (p.Phe1284Leu)
|
rs148561729
|
|
NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=)
|
rs148561729
|
|
NM_004369.4(COL6A3):c.3885G>A (p.Val1295=)
|
rs2077708134
|
|
NM_004369.4(COL6A3):c.3909G>A (p.Arg1303=)
|
|
|
NM_004369.4(COL6A3):c.3945C>T (p.Ala1315=)
|
rs2106357314
|
|
NM_004369.4(COL6A3):c.3981C>A (p.Pro1327=)
|
rs2106357258
|
|
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=)
|
rs114498197
|
|
NM_004369.4(COL6A3):c.4011G>T (p.Pro1337=)
|
rs114498197
|
|
NM_004369.4(COL6A3):c.4041G>A (p.Lys1347=)
|
|
|
NM_004369.4(COL6A3):c.4056G>A (p.Val1352=)
|
|
|
NM_004369.4(COL6A3):c.4060G>A (p.Asp1354Asn)
|
|
|
NM_004369.4(COL6A3):c.4089C>T (p.Gly1363=)
|
|
|
NM_004369.4(COL6A3):c.4095C>G (p.Ala1365=)
|
rs2106357035
|
|
NM_004369.4(COL6A3):c.4110C>T (p.Ala1370=)
|
rs1553559241
|
|
NM_004369.4(COL6A3):c.4113G>A (p.Arg1371=)
|
|
|
NM_004369.4(COL6A3):c.4122C>T (p.Asp1374=)
|
rs2106356973
|
|
NM_004369.4(COL6A3):c.4149G>A (p.Leu1383=)
|
|
|
NM_004369.4(COL6A3):c.4152C>T (p.Ser1384=)
|
rs2077697254
|
|
NM_004369.4(COL6A3):c.4164G>A (p.Val1388=)
|
|
|
NM_004369.4(COL6A3):c.4188G>A (p.Glu1396=)
|
rs2077695533
|
|
NM_004369.4(COL6A3):c.4218G>A (p.Thr1406=)
|
|
|
NM_004369.4(COL6A3):c.4239A>G (p.Ser1413=)
|
rs759052298
|
|
NM_004369.4(COL6A3):c.4255C>T (p.Leu1419Phe)
|
|
|
NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser)
|
|
|
NM_004369.4(COL6A3):c.4285+12G>T
|
rs1295105927
|
|
NM_004369.4(COL6A3):c.4285+16C>T
|
|
|
NM_004369.4(COL6A3):c.4290T>C (p.Val1430=)
|
rs2077626622
|
|
NM_004369.4(COL6A3):c.4311T>G (p.Ile1437Met)
|
rs2646260
|
|
NM_004369.4(COL6A3):c.4314C>T (p.Val1438=)
|
|
|
NM_004369.4(COL6A3):c.4332T>C (p.Ser1444=)
|
|
|
NM_004369.4(COL6A3):c.4389T>G (p.Val1463=)
|
rs2106353277
|
|
NM_004369.4(COL6A3):c.4391G>A (p.Arg1464Gln)
|
|
|
NM_004369.4(COL6A3):c.4407C>A (p.Gly1469=)
|
|
|
NM_004369.4(COL6A3):c.4424T>C (p.Val1475Ala)
|
rs1216842831
|
|
NM_004369.4(COL6A3):c.4470G>A (p.Leu1490=)
|
|
|
NM_004369.4(COL6A3):c.4476C>G (p.Thr1492=)
|
|
|
NM_004369.4(COL6A3):c.4488G>A (p.Gln1496=)
|
rs369543806
|
|
NM_004369.4(COL6A3):c.4510C>A (p.Arg1504=)
|
rs144223596
|
|
NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp)
|
rs144223596
|
|
NM_004369.4(COL6A3):c.4521G>A (p.Arg1507=)
|
|
|
NM_004369.4(COL6A3):c.4534T>A (p.Ser1512Thr)
|
rs1553557796
|
|
NM_004369.4(COL6A3):c.4539A>G (p.Pro1513=)
|
rs1574695218
|
|
NM_004369.4(COL6A3):c.4548T>C (p.Thr1516=)
|
rs2106352992
|
|
NM_004369.4(COL6A3):c.4581C>T (p.Leu1527=)
|
rs1223820832
|
|
NM_004369.4(COL6A3):c.45C>G (p.Leu15=)
|
|
|
NM_004369.4(COL6A3):c.4615G>A (p.Gly1539Arg)
|
|
|
NM_004369.4(COL6A3):c.462G>T (p.Ser154=)
|
|
|
NM_004369.4(COL6A3):c.4635C>T (p.Val1545=)
|
|
|
NM_004369.4(COL6A3):c.4644G>A (p.Leu1548=)
|
rs1017491163
|
|
NM_004369.4(COL6A3):c.4647T>A (p.Gly1549=)
|
|
|
NM_004369.4(COL6A3):c.4668G>A (p.Val1556=)
|
|
|
NM_004369.4(COL6A3):c.4698G>A (p.Ser1566=)
|
|
|
NM_004369.4(COL6A3):c.4749G>A (p.Leu1583=)
|
|
|
NM_004369.4(COL6A3):c.4767C>T (p.Asp1589=)
|
|
|
NM_004369.4(COL6A3):c.4776G>T (p.Leu1592=)
|
rs2077611451
|
|
NM_004369.4(COL6A3):c.483C>T (p.Pro161=)
|
rs2106388145
|
|
NM_004369.4(COL6A3):c.4863A>T (p.Ala1621=)
|
|
|
NM_004369.4(COL6A3):c.4900+9C>A
|
rs117345850
|
|
NM_004369.4(COL6A3):c.4901-9C>G
|
|
|
NM_004369.4(COL6A3):c.4929G>C (p.Leu1643=)
|
|
|
NM_004369.4(COL6A3):c.4944C>A (p.Ile1648=)
|
|
|
NM_004369.4(COL6A3):c.4974G>T (p.Val1658=)
|
|
|
NM_004369.4(COL6A3):c.498G>A (p.Lys166=)
|
rs2106388118
|
|
NM_004369.4(COL6A3):c.5004A>C (p.Thr1668=)
|
|
|
NM_004369.4(COL6A3):c.5019C>A (p.Gly1673=)
|
|
|
NM_004369.4(COL6A3):c.5067C>T (p.Asp1689=)
|
rs370475865
|
|
NM_004369.4(COL6A3):c.5084A>T (p.Asp1695Val)
|
rs147231661
|
|
NM_004369.4(COL6A3):c.5148C>T (p.His1716=)
|
rs114845780
|
|
NM_004369.4(COL6A3):c.5163G>T (p.Val1721=)
|
|
|
NM_004369.4(COL6A3):c.516G>A (p.Val172=)
|
rs2106388091
|
|
NM_004369.4(COL6A3):c.5172G>A (p.Glu1724=)
|
|
|
NM_004369.4(COL6A3):c.5214C>T (p.Arg1738=)
|
|
|
NM_004369.4(COL6A3):c.5224C>A (p.Arg1742=)
|
rs578249894
|
|
NM_004369.4(COL6A3):c.5224C>T (p.Arg1742Trp)
|
rs578249894
|
|
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly)
|
rs150200531
|
|
NM_004369.4(COL6A3):c.534G>C (p.Glu178Asp)
|
rs1375292407
|
|
NM_004369.4(COL6A3):c.5373C>T (p.Ser1791=)
|
|
|
NM_004369.4(COL6A3):c.5412G>A (p.Glu1804=)
|
|
|
NM_004369.4(COL6A3):c.5415G>A (p.Leu1805=)
|
|
|
NM_004369.4(COL6A3):c.5433A>G (p.Gln1811=)
|
rs2106350355
|
|
NM_004369.4(COL6A3):c.5456C>T (p.Ala1819Val)
|
rs764242694
|
|
NM_004369.4(COL6A3):c.5500+14T>A
|
|
|
NM_004369.4(COL6A3):c.5500+17G>T
|
|
|
NM_004369.4(COL6A3):c.5500+20T>C
|
rs2077560317
|
|
NM_004369.4(COL6A3):c.5500+8C>G
|
rs2077560922
|
|
NM_004369.4(COL6A3):c.5501-16C>A
|
|
|
NM_004369.4(COL6A3):c.5501-17G>T
|
rs200723656
|
|
NM_004369.4(COL6A3):c.5501-7T>G
|
|
|
NM_004369.4(COL6A3):c.5550T>C (p.Asn1850=)
|
|
|
NM_004369.4(COL6A3):c.5568G>A (p.Lys1856=)
|
rs2106349387
|
|
NM_004369.4(COL6A3):c.5605A>G (p.Ile1869Val)
|
|
|
NM_004369.4(COL6A3):c.5645C>T (p.Ser1882Leu)
|
rs368943871
|
|
NM_004369.4(COL6A3):c.5649C>T (p.Pro1883=)
|
rs886044430
|
|
NM_004369.4(COL6A3):c.5653G>A (p.Val1885Met)
|
|
|
NM_004369.4(COL6A3):c.565G>A (p.Ala189Thr)
|
|
|
NM_004369.4(COL6A3):c.5688C>A (p.Gly1896=)
|
|
|
NM_004369.4(COL6A3):c.5691G>A (p.Pro1897=)
|
|
|
NM_004369.4(COL6A3):c.56G>A (p.Gly19Asp)
|
|
|
NM_004369.4(COL6A3):c.5733C>T (p.Leu1911=)
|
|
|
NM_004369.4(COL6A3):c.5753G>A (p.Arg1918His)
|
rs139230842
|
|
NM_004369.4(COL6A3):c.575C>G (p.Pro192Arg)
|
|
|
NM_004369.4(COL6A3):c.576G>A (p.Pro192=)
|
rs141560881
|
|
NM_004369.4(COL6A3):c.576G>T (p.Pro192=)
|
rs141560881
|
|
NM_004369.4(COL6A3):c.5788C>T (p.Leu1930=)
|
|
|
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met)
|
rs113332380
|
|
NM_004369.4(COL6A3):c.5839-9T>C
|
rs745307761
|
|
NM_004369.4(COL6A3):c.5844C>T (p.Val1948=)
|
rs2106347308
|
|
NM_004369.4(COL6A3):c.5892A>T (p.Arg1964Ser)
|
|
|
NM_004369.4(COL6A3):c.5895A>T (p.Ala1965=)
|
|
|
NM_004369.4(COL6A3):c.5918-11T>C
|
|
|
NM_004369.4(COL6A3):c.5918-17T>C
|
rs2106346191
|
|
NM_004369.4(COL6A3):c.5918-7T>G
|
rs1004578583
|
|
NM_004369.4(COL6A3):c.5924G>A (p.Arg1975His)
|
|
|
NM_004369.4(COL6A3):c.595A>C (p.Asn199His)
|
|
|
NM_004369.4(COL6A3):c.5964G>A (p.Leu1988=)
|
|
|
NM_004369.4(COL6A3):c.5982G>T (p.Leu1994=)
|
|
|
NM_004369.4(COL6A3):c.5997G>A (p.Gly1999=)
|
rs372028656
|
|
NM_004369.4(COL6A3):c.6063+13T>A
|
|
|
NM_004369.4(COL6A3):c.6063+14A>T
|
rs1242577749
|
|
NM_004369.4(COL6A3):c.6063+14_6063+15insG
|
rs2106345949
|
|
NM_004369.4(COL6A3):c.6064-11C>T
|
|
|
NM_004369.4(COL6A3):c.6064-16C>A
|
|
|
NM_004369.4(COL6A3):c.6064-6C>G
|
rs202091342
|
|
NM_004369.4(COL6A3):c.6064-7T>G
|
|
|
NM_004369.4(COL6A3):c.6064-8T>G
|
rs2106344303
|
|
NM_004369.4(COL6A3):c.6066C>T (p.Asp2022=)
|
rs886044237
|
|
NM_004369.4(COL6A3):c.610A>T (p.Thr204Ser)
|
|
|
NM_004369.4(COL6A3):c.6147C>T (p.Ile2049=)
|
|
|
NM_004369.4(COL6A3):c.6157-16G>C
|
|
|
NM_004369.4(COL6A3):c.6168A>G (p.Gly2056=)
|
rs1574978545
|
|
NM_004369.4(COL6A3):c.619C>T (p.His207Tyr)
|
rs749985039
|
|
NM_004369.4(COL6A3):c.6210+13T>C
|
|
|
NM_004369.4(COL6A3):c.6210+15T>C
|
rs2106343420
|
|
NM_004369.4(COL6A3):c.6211-17T>G
|
|
|
NM_004369.4(COL6A3):c.6213T>C (p.Gly2071=)
|
|
|
NM_004369.4(COL6A3):c.626T>C (p.Ile209Thr)
|
|
|
NM_004369.4(COL6A3):c.6282+20G>A
|
|
|
NM_004369.4(COL6A3):c.6282+8G>A
|
|
|
NM_004369.4(COL6A3):c.6354+12T>A
|
|
|
NM_004369.4(COL6A3):c.6355-10T>C
|
|
|
NM_004369.4(COL6A3):c.6408+17G>A
|
|
|
NM_004369.4(COL6A3):c.6409-13G>A
|
|
|
NM_004369.4(COL6A3):c.6409-19A>G
|
|
|
NM_004369.4(COL6A3):c.6409-8T>C
|
rs2106340546
|
|
NM_004369.4(COL6A3):c.6441A>G (p.Glu2147=)
|
|
|
NM_004369.4(COL6A3):c.6450T>C (p.Asp2150=)
|
|
|
NM_004369.4(COL6A3):c.6466G>C (p.Asp2156His)
|
rs1483242059
|
|
NM_004369.4(COL6A3):c.6471+17T>C
|
|
|
NM_004369.4(COL6A3):c.6472-15C>T
|
|
|
NM_004369.4(COL6A3):c.6472-7C>G
|
|
|
NM_004369.4(COL6A3):c.6531C>T (p.Gly2177=)
|
|
|
NM_004369.4(COL6A3):c.6537+15A>G
|
|
|
NM_004369.4(COL6A3):c.6538-12T>C
|
|
|
NM_004369.4(COL6A3):c.6538-13T>C
|
rs754557027
|
|
NM_004369.4(COL6A3):c.6538-20G>C
|
|
|
NM_004369.4(COL6A3):c.6538-5A>C
|
rs1574971750
|
|
NM_004369.4(COL6A3):c.6585G>A (p.Gly2195=)
|
rs1172324866
|
|
NM_004369.4(COL6A3):c.6588G>A (p.Lys2196=)
|
|
|
NM_004369.4(COL6A3):c.6591+15G>T
|
|
|
NM_004369.4(COL6A3):c.6591+7G>A
|
|
|
NM_004369.4(COL6A3):c.6592-11T>C
|
|
|
NM_004369.4(COL6A3):c.6592-19_6592-10del
|
rs2077285974
|
|
NM_004369.4(COL6A3):c.6592-8T>C
|
rs994267675
|
|
NM_004369.4(COL6A3):c.6597C>T (p.Gly2199=)
|
|
|
NM_004369.4(COL6A3):c.6605G>A (p.Arg2202Gln)
|
|
|
NM_004369.4(COL6A3):c.660C>T (p.Ser220=)
|
|
|
NM_004369.4(COL6A3):c.6613C>A (p.Pro2205Thr)
|
rs748768672
|
|
NM_004369.4(COL6A3):c.661G>A (p.Val221Met)
|
rs765527121
|
|
NM_004369.4(COL6A3):c.661G>T (p.Val221Leu)
|
|
|
NM_004369.4(COL6A3):c.6622G>A (p.Ala2208Thr)
|
rs398124129
|
|
NM_004369.4(COL6A3):c.6622G>T (p.Ala2208Ser)
|
rs398124129
|
|
NM_004369.4(COL6A3):c.6627+15G>A
|
|
|
NM_004369.4(COL6A3):c.6627+19C>A
|
|
|
NM_004369.4(COL6A3):c.6627+9C>T
|
|
|
NM_004369.4(COL6A3):c.6639C>T (p.Gly2213=)
|
rs765837100
|
|
NM_004369.4(COL6A3):c.6654G>T (p.Pro2218=)
|
rs147537071
|
|
NM_004369.4(COL6A3):c.6666A>G (p.Gly2222=)
|
|
|
NM_004369.4(COL6A3):c.6675G>T (p.Gly2225=)
|
rs538533719
|
|
NM_004369.4(COL6A3):c.6690+11C>T
|
|
|
NM_004369.4(COL6A3):c.6690+12C>T
|
|
|
NM_004369.4(COL6A3):c.6690+13G>A
|
|
|
NM_004369.4(COL6A3):c.6691-10C>T
|
|
|
NM_004369.4(COL6A3):c.6691-16T>G
|
rs1211086568
|
|
NM_004369.4(COL6A3):c.669A>C (p.Pro223=)
|
|
|
NM_004369.4(COL6A3):c.669A>G (p.Pro223=)
|
rs1246288754
|
|
NM_004369.4(COL6A3):c.6717A>G (p.Pro2239=)
|
|
|
NM_004369.4(COL6A3):c.6753+15A>G
|
|
|
NM_004369.4(COL6A3):c.6754-12C>T
|
rs2077199421
|
|
NM_004369.4(COL6A3):c.6754-15C>T
|
|
|
NM_004369.4(COL6A3):c.6754-18C>G
|
|
|
NM_004369.4(COL6A3):c.6754-18C>T
|
|
|
NM_004369.4(COL6A3):c.6754-20T>C
|
|
|
NM_004369.4(COL6A3):c.6798C>G (p.Thr2266=)
|
rs116541926
|
|
NM_004369.4(COL6A3):c.6807G>C (p.Leu2269=)
|
|
|
NM_004369.4(COL6A3):c.6810A>C (p.Gly2270=)
|
|
|
NM_004369.4(COL6A3):c.6816+8T>G
|
|
|
NM_004369.4(COL6A3):c.6817-5T>C
|
rs794727464
|
|
NM_004369.4(COL6A3):c.6817-6G>A
|
rs886042773
|
|
NM_004369.4(COL6A3):c.6817-9C>G
|
|
|
NM_004369.4(COL6A3):c.684C>T (p.Asp228=)
|
rs771393722
|
|
NM_004369.4(COL6A3):c.6855G>A (p.Gly2285=)
|
rs3790993
|
|
NM_004369.4(COL6A3):c.6869G>A (p.Arg2290His)
|
rs398124131
|
|
NM_004369.4(COL6A3):c.6879+13C>T
|
rs754120322
|
|
NM_004369.4(COL6A3):c.6879+14G>T
|
|
|
NM_004369.4(COL6A3):c.6879+16G>T
|
|
|
NM_004369.4(COL6A3):c.6879+18T>C
|
|
|
NM_004369.4(COL6A3):c.687G>A (p.Thr229=)
|
|
|
NM_004369.4(COL6A3):c.6880-20C>A
|
|
|
NM_004369.4(COL6A3):c.6880-6T>C
|
rs1023123323
|
|
NM_004369.4(COL6A3):c.6880-7C>A
|
|
|
NM_004369.4(COL6A3):c.6880-8A>G
|
rs377004585
|
|
NM_004369.4(COL6A3):c.6885T>C (p.Asp2295=)
|
|
|
NM_004369.4(COL6A3):c.6903T>C (p.Val2301=)
|
|
|
NM_004369.4(COL6A3):c.6915A>G (p.Gly2305=)
|
|
|
NM_004369.4(COL6A3):c.6916C>T (p.Arg2306Cys)
|
|
|
NM_004369.4(COL6A3):c.6930+6dup
|
|
|
NM_004369.4(COL6A3):c.6931-19A>G
|
|
|
NM_004369.4(COL6A3):c.6931-19A>T
|
rs771629624
|
|
NM_004369.4(COL6A3):c.6962C>A (p.Pro2321Gln)
|
rs1207239805
|
|
NM_004369.4(COL6A3):c.6966+11C>T
|
|
|
NM_004369.4(COL6A3):c.6966+18G>A
|
|
|
NM_004369.4(COL6A3):c.6966+9T>A
|
|
|
NM_004369.4(COL6A3):c.6967-10T>C
|
rs777986767
|
|
NM_004369.4(COL6A3):c.6967-18T>A
|
|
|
NM_004369.4(COL6A3):c.7017C>A (p.Ile2339=)
|
|
|
NM_004369.4(COL6A3):c.7029+11G>A
|
|
|
NM_004369.4(COL6A3):c.7029+13_7029+44del
|
|
|
NM_004369.4(COL6A3):c.7029+19T>C
|
|
|
NM_004369.4(COL6A3):c.7030-20G>A
|
|
|
NM_004369.4(COL6A3):c.7030-4C>G
|
rs886042395
|
|
NM_004369.4(COL6A3):c.7047A>C (p.Pro2349=)
|
rs1574951790
|
|
NM_004369.4(COL6A3):c.705C>A (p.Ile235=)
|
|
|
NM_004369.4(COL6A3):c.705C>T (p.Ile235=)
|
rs993297723
|
|
NM_004369.4(COL6A3):c.709+11C>G
|
|
|
NM_004369.4(COL6A3):c.709+12G>A
|
|
|
NM_004369.4(COL6A3):c.709+13C>T
|
|
|
NM_004369.4(COL6A3):c.709+16C>T
|
|
|
NM_004369.4(COL6A3):c.709+18A>C
|
|
|
NM_004369.4(COL6A3):c.709+18A>G
|
|
|
NM_004369.4(COL6A3):c.709+9A>C
|
|
|
NM_004369.4(COL6A3):c.7092+16G>C
|
|
|
NM_004369.4(COL6A3):c.7093-15T>C
|
|
|
NM_004369.4(COL6A3):c.7093-17G>A
|
|
|
NM_004369.4(COL6A3):c.7093-18C>T
|
|
|
NM_004369.4(COL6A3):c.7093-9G>T
|
rs2106325624
|
|
NM_004369.4(COL6A3):c.710-6_710-5dup
|
|
|
NM_004369.4(COL6A3):c.7101G>A (p.Lys2367=)
|
rs775666497
|
|
NM_004369.4(COL6A3):c.7107C>T (p.Asn2369=)
|
rs1410340783
|
|
NM_004369.4(COL6A3):c.7125+11T>C
|
|
|
NM_004369.4(COL6A3):c.7125+12G>A
|
|
|
NM_004369.4(COL6A3):c.7125+15T>C
|
|
|
NM_004369.4(COL6A3):c.7125+19G>C
|
|
|
NM_004369.4(COL6A3):c.7126-12T>C
|
|
|
NM_004369.4(COL6A3):c.7162+11G>A
|
rs540897134
|
|
NM_004369.4(COL6A3):c.7175-6C>G
|
rs199723531
|
|
NM_004369.4(COL6A3):c.7175-6C>T
|
|
|
NM_004369.4(COL6A3):c.7185G>A (p.Glu2395=)
|
|
|
NM_004369.4(COL6A3):c.7191C>T (p.Pro2397=)
|
|
|
NM_004369.4(COL6A3):c.7212C>T (p.Ala2404=)
|
rs1162382032
|
|
NM_004369.4(COL6A3):c.7256G>C (p.Gly2419Ala)
|
rs1339553173
|
|
NM_004369.4(COL6A3):c.7314C>G (p.Asn2438Lys)
|
|
|
NM_004369.4(COL6A3):c.7326G>A (p.Gly2442=)
|
rs2106325082
|
|
NM_004369.4(COL6A3):c.7328C>T (p.Ala2443Val)
|
rs555176397
|
|
NM_004369.4(COL6A3):c.7356C>G (p.Asn2452Lys)
|
rs569662223
|
|
NM_004369.4(COL6A3):c.7363A>G (p.Thr2455Ala)
|
rs757349865
|
|
NM_004369.4(COL6A3):c.7407C>T (p.Leu2469=)
|
rs2106324946
|
|
NM_004369.4(COL6A3):c.7440G>A (p.Leu2480=)
|
|
|
NM_004369.4(COL6A3):c.7446C>T (p.Ser2482=)
|
|
|
NM_004369.4(COL6A3):c.7515A>T (p.Gly2505=)
|
|
|
NM_004369.4(COL6A3):c.7560A>G (p.Thr2520=)
|
|
|
NM_004369.4(COL6A3):c.7581A>G (p.Arg2527=)
|
rs765129895
|
|
NM_004369.4(COL6A3):c.7584G>A (p.Glu2528=)
|
|
|
NM_004369.4(COL6A3):c.7608G>T (p.Ala2536=)
|
rs749750613
|
|
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=)
|
rs151079701
|
|
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp)
|
rs151079701
|
|
NM_004369.4(COL6A3):c.7650G>A (p.Gln2550=)
|
|
|
NM_004369.4(COL6A3):c.7669-15T>C
|
|
|
NM_004369.4(COL6A3):c.7669-16C>T
|
|
|
NM_004369.4(COL6A3):c.7673A>G (p.Asn2558Ser)
|
|
|
NM_004369.4(COL6A3):c.7689G>A (p.Gly2563=)
|
rs1033018695
|
|
NM_004369.4(COL6A3):c.771T>C (p.Asn257=)
|
|
|
NM_004369.4(COL6A3):c.7765+15T>C
|
rs777263519
|
|
NM_004369.4(COL6A3):c.7766-13T>C
|
rs2076980060
|
|
NM_004369.4(COL6A3):c.7766-14A>G
|
|
|
NM_004369.4(COL6A3):c.7766-20G>A
|
|
|
NM_004369.4(COL6A3):c.7770C>T (p.Ile2590=)
|
rs1574940988
|
|
NM_004369.4(COL6A3):c.7780G>A (p.Asp2594Asn)
|
|
|
NM_004369.4(COL6A3):c.7819A>G (p.Arg2607Gly)
|
rs984056484
|
|
NM_004369.4(COL6A3):c.7825A>C (p.Arg2609=)
|
|
|
NM_004369.4(COL6A3):c.7833G>T (p.Ala2611=)
|
rs535306425
|
|
NM_004369.4(COL6A3):c.7843G>A (p.Asp2615Asn)
|
rs145884404
|
|
NM_004369.4(COL6A3):c.7843G>T (p.Asp2615Tyr)
|
|
|
NM_004369.4(COL6A3):c.7848G>A (p.Val2616=)
|
|
|
NM_004369.4(COL6A3):c.7851C>T (p.Asp2617=)
|
rs1235022762
|
|
NM_004369.4(COL6A3):c.7854C>T (p.Ile2618=)
|
|
|
NM_004369.4(COL6A3):c.7896G>C (p.Leu2632=)
|
rs1378457056
|
|
NM_004369.4(COL6A3):c.7911G>A (p.Glu2637=)
|
|
|
NM_004369.4(COL6A3):c.7917G>A (p.Lys2639=)
|
|
|
NM_004369.4(COL6A3):c.7926A>T (p.Ile2642=)
|
rs2076975766
|
|
NM_004369.4(COL6A3):c.7929G>T (p.Ala2643=)
|
|
|
NM_004369.4(COL6A3):c.792C>T (p.Phe264=)
|
rs2106379168
|
|
NM_004369.4(COL6A3):c.7960G>A (p.Asp2654Asn)
|
|
|
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=)
|
rs375222168
|
|
NM_004369.4(COL6A3):c.7995A>T (p.Ala2665=)
|
rs80193928
|
|
NM_004369.4(COL6A3):c.8031T>C (p.Asn2677=)
|
|
|
NM_004369.4(COL6A3):c.8045C>T (p.Pro2682Leu)
|
rs761740861
|
|
NM_004369.4(COL6A3):c.8050A>C (p.Lys2684Gln)
|
rs886055803
|
|
NM_004369.4(COL6A3):c.8055G>T (p.Val2685=)
|
|
|
NM_004369.4(COL6A3):c.8082C>A (p.Ser2694=)
|
|
|
NM_004369.4(COL6A3):c.8088G>A (p.Glu2696=)
|
|
|
NM_004369.4(COL6A3):c.8091G>A (p.Lys2697=)
|
rs775318733
|
|
NM_004369.4(COL6A3):c.8112G>A (p.Arg2704=)
|
|
|
NM_004369.4(COL6A3):c.8148C>A (p.Gly2716=)
|
|
|
NM_004369.4(COL6A3):c.8163C>T (p.Tyr2721=)
|
|
|
NM_004369.4(COL6A3):c.816C>T (p.Leu272=)
|
|
|
NM_004369.4(COL6A3):c.819A>G (p.Pro273=)
|
rs2106379131
|
|
NM_004369.4(COL6A3):c.81G>A (p.Gln27=)
|
|
|
NM_004369.4(COL6A3):c.8208G>T (p.Leu2736=)
|
rs2106319581
|
|
NM_004369.4(COL6A3):c.821T>C (p.Ile274Thr)
|
|
|
NM_004369.4(COL6A3):c.8221C>T (p.Leu2741=)
|
|
|
NM_004369.4(COL6A3):c.8235C>A (p.Gly2745=)
|
|
|
NM_004369.4(COL6A3):c.8235C>T (p.Gly2745=)
|
rs534728020
|
|
NM_004369.4(COL6A3):c.8310G>C (p.Val2770=)
|
rs766217603
|
|
NM_004369.4(COL6A3):c.8319C>T (p.Gly2773=)
|
rs1453228535
|
|
NM_004369.4(COL6A3):c.8349A>G (p.Val2783=)
|
|
|
NM_004369.4(COL6A3):c.8359G>T (p.Ala2787Ser)
|
rs763395740
|
|
NM_004369.4(COL6A3):c.837C>A (p.Ile279=)
|
|
|
NM_004369.4(COL6A3):c.8394G>C (p.Val2798=)
|
rs780134165
|
|
NM_004369.4(COL6A3):c.839G>A (p.Arg280Gln)
|
rs370246962
|
|
NM_004369.4(COL6A3):c.8404A>T (p.Thr2802Ser)
|
|
|
NM_004369.4(COL6A3):c.8407G>A (p.Glu2803Lys)
|
|
|
NM_004369.4(COL6A3):c.8421G>A (p.Glu2807=)
|
rs753264980
|
|
NM_004369.4(COL6A3):c.8460C>T (p.Val2820=)
|
|
|
NM_004369.4(COL6A3):c.8464+7C>T
|
|
|
NM_004369.4(COL6A3):c.8465-18T>C
|
rs1318549888
|
|
NM_004369.4(COL6A3):c.8465-7T>A
|
rs1574936670
|
|
NM_004369.4(COL6A3):c.8465-7del
|
rs111494366
|
|
NM_004369.4(COL6A3):c.8465-9T>C
|
|
|
NM_004369.4(COL6A3):c.8490A>G (p.Pro2830=)
|
|
|
NM_004369.4(COL6A3):c.8567+20G>A
|
|
|
NM_004369.4(COL6A3):c.8568-10G>T
|
|
|
NM_004369.4(COL6A3):c.8568-12T>A
|
|
|
NM_004369.4(COL6A3):c.8571T>C (p.Asn2857=)
|
|
|
NM_004369.4(COL6A3):c.8576C>T (p.Pro2859Leu)
|
|
|
NM_004369.4(COL6A3):c.8592A>G (p.Ser2864=)
|
|
|
NM_004369.4(COL6A3):c.8598T>C (p.Pro2866=)
|
|
|
NM_004369.4(COL6A3):c.861C>T (p.Ser287=)
|
rs756380512
|
|
NM_004369.4(COL6A3):c.8626C>G (p.Pro2876Ala)
|
|
|
NM_004369.4(COL6A3):c.8634T>A (p.Thr2878=)
|
rs768887961
|
|
NM_004369.4(COL6A3):c.8640G>A (p.Thr2880=)
|
|
|
NM_004369.4(COL6A3):c.8640G>C (p.Thr2880=)
|
rs746309230
|
|
NM_004369.4(COL6A3):c.8667T>C (p.Pro2889=)
|
|
|
NM_004369.4(COL6A3):c.8670A>G (p.Val2890=)
|
rs551264358
|
|
NM_004369.4(COL6A3):c.8676C>T (p.Thr2892=)
|
|
|
NM_004369.4(COL6A3):c.8709A>G (p.Pro2903=)
|
rs770062985
|
|
NM_004369.4(COL6A3):c.8736G>A (p.Pro2912=)
|
|
|
NM_004369.4(COL6A3):c.8738C>A (p.Ala2913Asp)
|
|
|
NM_004369.4(COL6A3):c.8754G>A (p.Val2918=)
|
rs1332418093
|
|
NM_004369.4(COL6A3):c.877A>G (p.Met293Val)
|
|
|
NM_004369.4(COL6A3):c.8780_8781delinsCT (p.Met2927Thr)
|
rs2106314441
|
|
NM_004369.4(COL6A3):c.8780_8781inv (p.Met2927Thr)
|
|
|
NM_004369.4(COL6A3):c.8784C>T (p.Ala2928=)
|
|
|
NM_004369.4(COL6A3):c.8799A>G (p.Pro2933=)
|
rs139811166
|
|
NM_004369.4(COL6A3):c.8847A>G (p.Pro2949=)
|
|
|
NM_004369.4(COL6A3):c.8862C>T (p.Pro2954=)
|
rs2106314283
|
|
NM_004369.4(COL6A3):c.8865_8867del (p.Ala2960del)
|
rs757584445
|
|
NM_004369.4(COL6A3):c.8866G>A (p.Ala2956Thr)
|
rs773820329
|
|
NM_004369.4(COL6A3):c.8892G>A (p.Ala2964=)
|
rs147324162
|
|
NM_004369.4(COL6A3):c.8892G>C (p.Ala2964=)
|
rs147324162
|
|
NM_004369.4(COL6A3):c.8895C>T (p.Thr2965=)
|
rs114008087
|
|
NM_004369.4(COL6A3):c.8920G>A (p.Ala2974Thr)
|
rs727502837
|
|
NM_004369.4(COL6A3):c.8955T>C (p.Thr2985=)
|
|
|
NM_004369.4(COL6A3):c.8966-11C>A
|
|
|
NM_004369.4(COL6A3):c.8966-13A>G
|
|
|
NM_004369.4(COL6A3):c.8966-19G>A
|
|
|
NM_004369.4(COL6A3):c.896A>G (p.Tyr299Cys)
|
|
|
NM_004369.4(COL6A3):c.8977C>G (p.Arg2993Gly)
|
|
|
NM_004369.4(COL6A3):c.8985C>G (p.Val2995=)
|
rs2106312595
|
|
NM_004369.4(COL6A3):c.8997G>A (p.Glu2999=)
|
rs2106312577
|
|
NM_004369.4(COL6A3):c.9045C>G (p.Pro3015=)
|
|
|
NM_004369.4(COL6A3):c.9046G>C (p.Gly3016Arg)
|
|
|
NM_004369.4(COL6A3):c.9051T>A (p.Pro3017=)
|
rs1574928802
|
|
NM_004369.4(COL6A3):c.9093C>T (p.Ser3031=)
|
|
|
NM_004369.4(COL6A3):c.9096G>T (p.Leu3032=)
|
rs147327623
|
|
NM_004369.4(COL6A3):c.909C>T (p.Ala303=)
|
|
|
NM_004369.4(COL6A3):c.91+15C>A
|
rs117521066
|
|
NM_004369.4(COL6A3):c.9127C>T (p.Arg3043Cys)
|
|
|
NM_004369.4(COL6A3):c.9138A>G (p.Gly3046=)
|
|
|
NM_004369.4(COL6A3):c.913G>A (p.Val305Ile)
|
rs564041158
|
|
NM_004369.4(COL6A3):c.9188G>A (p.Arg3063Lys)
|
|
|
NM_004369.4(COL6A3):c.9192T>G (p.Ser3064=)
|
rs1253951128
|
|
NM_004369.4(COL6A3):c.92-19C>A
|
|
|
NM_004369.4(COL6A3):c.92-19C>G
|
|
|
NM_004369.4(COL6A3):c.9210C>T (p.Tyr3070=)
|
rs1363089686
|
|
NM_004369.4(COL6A3):c.9214G>A (p.Gly3072Arg)
|
|
|
NM_004369.4(COL6A3):c.9230-19A>G
|
|
|
NM_004369.4(COL6A3):c.9230-20del
|
|
|
NM_004369.4(COL6A3):c.9230-4A>G
|
rs1559190144
|
|
NM_004369.4(COL6A3):c.9249T>A (p.Pro3083=)
|
rs77368269
|
|
NM_004369.4(COL6A3):c.9303A>G (p.Thr3101=)
|
rs957608376
|
|
NM_004369.4(COL6A3):c.9310T>C (p.Leu3104=)
|
|
|
NM_004369.4(COL6A3):c.9328+8G>A
|
|
|
NM_004369.4(COL6A3):c.9329-18C>A
|
|
|
NM_004369.4(COL6A3):c.9329-4A>G
|
|
|
NM_004369.4(COL6A3):c.9329-7A>T
|
|
|
NM_004369.4(COL6A3):c.937G>A (p.Gly313Arg)
|
|
|
NM_004369.4(COL6A3):c.966C>A (p.Ile322=)
|
rs369160080
|
|