NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met)
|
rs34741387
|
0.00817
|
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly)
|
rs112913396
|
0.00220
|
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.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=)
|
rs116066149
|
0.00096
|
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.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
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.786C>T (p.Leu262=)
|
rs111481402
|
0.00043
|
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.5839-3C>T
|
rs112825341
|
0.00037
|
NM_004369.4(COL6A3):c.3755G>A (p.Arg1252His)
|
rs201314411
|
0.00036
|
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.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.6151C>A (p.Pro2051Thr)
|
rs370397767
|
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.1572C>T (p.Tyr524=)
|
rs115973206
|
0.00026
|
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)
|
rs78427077
|
0.00026
|
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=)
|
rs115893145
|
0.00026
|
NM_004369.4(COL6A3):c.4900+9C>T
|
rs117345850
|
0.00026
|
NM_004369.4(COL6A3):c.6180C>T (p.Tyr2060=)
|
rs115130936
|
0.00026
|
NM_004369.4(COL6A3):c.8966-3C>A
|
rs190667494
|
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.3680-4G>A
|
rs376123972
|
0.00024
|
NM_004369.4(COL6A3):c.7114G>A (p.Asp2372Asn)
|
rs142002241
|
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.3954C>T (p.Tyr1318=)
|
rs375909800
|
0.00022
|
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=)
|
rs115551245
|
0.00022
|
NM_004369.4(COL6A3):c.1373T>A (p.Leu458Gln)
|
rs374134397
|
0.00021
|
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.1065C>T (p.Ala355=)
|
rs115155458
|
0.00019
|
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.9344C>T (p.Pro3115Leu)
|
rs138109666
|
0.00018
|
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile)
|
rs199646208
|
0.00017
|
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=)
|
rs377572272
|
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.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.5652C>T (p.Thr1884=)
|
rs200285455
|
0.00015
|
NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu)
|
rs140728855
|
0.00015
|
NM_004369.4(COL6A3):c.2195C>T (p.Thr732Met)
|
rs370719148
|
0.00014
|
NM_004369.4(COL6A3):c.6769G>A (p.Ala2257Thr)
|
rs372154635
|
0.00014
|
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.5501-4C>G
|
rs143237699
|
0.00013
|
NM_004369.4(COL6A3):c.6868C>T (p.Arg2290Cys)
|
rs116608946
|
0.00013
|
NM_004369.4(COL6A3):c.839G>T (p.Arg280Leu)
|
rs370246962
|
0.00013
|
NM_004369.4(COL6A3):c.1961A>G (p.Asn654Ser)
|
rs144501019
|
0.00012
|
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.4066G>A (p.Ala1356Thr)
|
rs143459232
|
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.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.9117G>A (p.Thr3039=)
|
rs376780810
|
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.2305G>A (p.Ala769Thr)
|
rs142719863
|
0.00010
|
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=)
|
rs116239777
|
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.6422C>A (p.Pro2141His)
|
rs369169235
|
0.00010
|
NM_004369.4(COL6A3):c.8846C>T (p.Pro2949Leu)
|
rs376021820
|
0.00010
|
NM_004369.4(COL6A3):c.1557C>T (p.Asp519=)
|
rs145586177
|
0.00009
|
NM_004369.4(COL6A3):c.2144C>T (p.Ser715Leu)
|
rs780115806
|
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.414C>T (p.Ala138=)
|
rs148996231
|
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.5020G>A (p.Asp1674Asn)
|
rs778940391
|
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.5743C>T (p.Arg1915Trp)
|
rs201938007
|
0.00009
|
NM_004369.4(COL6A3):c.6157-4T>G
|
rs536696110
|
0.00009
|
NM_004369.4(COL6A3):c.7173C>T (p.Tyr2391=)
|
rs114248590
|
0.00009
|
NM_004369.4(COL6A3):c.7375C>T (p.Arg2459Trp)
|
rs371066956
|
0.00009
|
NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=)
|
rs201479636
|
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.9059A>G (p.Tyr3020Cys)
|
rs371006546
|
0.00009
|
NM_004369.4(COL6A3):c.1063G>A (p.Ala355Thr)
|
rs375022162
|
0.00008
|
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.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.8236G>A (p.Glu2746Lys)
|
rs111395856
|
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.5341A>G (p.Ile1781Val)
|
rs145447965
|
0.00007
|
NM_004369.4(COL6A3):c.5544C>A (p.Asp1848Glu)
|
rs531282669
|
0.00007
|
NM_004369.4(COL6A3):c.6768C>T (p.Ala2256=)
|
rs550085228
|
0.00007
|
NM_004369.4(COL6A3):c.707C>T (p.Thr236Ile)
|
rs886044270
|
0.00007
|
NM_004369.4(COL6A3):c.7376G>A (p.Arg2459Gln)
|
rs777496872
|
0.00007
|
NM_004369.4(COL6A3):c.1208C>T (p.Pro403Leu)
|
rs547651808
|
0.00006
|
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.2567G>A (p.Arg856His)
|
rs147897225
|
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.3732C>T (p.Ala1244=)
|
rs193265138
|
0.00006
|
NM_004369.4(COL6A3):c.3944C>T (p.Ala1315Val)
|
rs778458923
|
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.4894C>T (p.Arg1632Trp)
|
rs113755498
|
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.550G>A (p.Ala184Thr)
|
rs767499336
|
0.00006
|
NM_004369.4(COL6A3):c.5635G>A (p.Gly1879Ser)
|
rs760603443
|
0.00006
|
NM_004369.4(COL6A3):c.6470C>T (p.Pro2157Leu)
|
rs372281922
|
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.7331G>A (p.Arg2444Gln)
|
rs895701604
|
0.00006
|
NM_004369.4(COL6A3):c.7342G>T (p.Val2448Phe)
|
rs768564642
|
0.00006
|
NM_004369.4(COL6A3):c.7558A>T (p.Thr2520Ser)
|
rs144152285
|
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.7832C>T (p.Ala2611Val)
|
rs114806654
|
0.00006
|
NM_004369.4(COL6A3):c.8140G>T (p.Ala2714Ser)
|
rs748491825
|
0.00006
|
NM_004369.4(COL6A3):c.8627C>T (p.Pro2876Leu)
|
rs367635298
|
0.00006
|
NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met)
|
rs116655315
|
0.00006
|
NM_004369.4(COL6A3):c.2666G>A (p.Arg889His)
|
rs111295967
|
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.3671C>T (p.Pro1224Leu)
|
rs754323567
|
0.00005
|
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp)
|
rs150430813
|
0.00005
|
NM_004369.4(COL6A3):c.3932A>G (p.Asn1311Ser)
|
rs200592625
|
0.00005
|
NM_004369.4(COL6A3):c.3934G>A (p.Val1312Met)
|
rs144878757
|
0.00005
|
NM_004369.4(COL6A3):c.4504G>A (p.Ala1502Thr)
|
rs201722265
|
0.00005
|
NM_004369.4(COL6A3):c.5128G>A (p.Val1710Ile)
|
rs773631759
|
0.00005
|
NM_004369.4(COL6A3):c.5180G>A (p.Arg1727Gln)
|
rs760717002
|
0.00005
|
NM_004369.4(COL6A3):c.5680C>T (p.Pro1894Ser)
|
rs112540218
|
0.00005
|
NM_004369.4(COL6A3):c.5734G>A (p.Glu1912Lys)
|
rs113251155
|
0.00005
|
NM_004369.4(COL6A3):c.6640G>A (p.Gly2214Ser)
|
rs777454204
|
0.00005
|
NM_004369.4(COL6A3):c.6902T>C (p.Val2301Ala)
|
rs111927395
|
0.00005
|
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=)
|
rs758582935
|
0.00005
|
NM_004369.4(COL6A3):c.8632A>G (p.Thr2878Ala)
|
rs761653490
|
0.00005
|
NM_004369.4(COL6A3):c.9217A>G (p.Ser3073Gly)
|
rs199680718
|
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.2029C>T (p.Arg677Cys)
|
rs137923508
|
0.00004
|
NM_004369.4(COL6A3):c.2066C>T (p.Thr689Met)
|
rs762162177
|
0.00004
|
NM_004369.4(COL6A3):c.2162C>G (p.Ser721Ter)
|
rs377632042
|
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.2745C>T (p.Asn915=)
|
rs749992393
|
0.00004
|
NM_004369.4(COL6A3):c.285G>A (p.Thr95=)
|
rs373435541
|
0.00004
|
NM_004369.4(COL6A3):c.29T>C (p.Val10Ala)
|
rs766458324
|
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.3741G>C (p.Glu1247Asp)
|
rs577927810
|
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.4411A>C (p.Ser1471Arg)
|
rs150321587
|
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.4691G>A (p.Arg1564His)
|
rs368151192
|
0.00004
|
NM_004369.4(COL6A3):c.4742C>G (p.Thr1581Arg)
|
rs1156524068
|
0.00004
|
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=)
|
rs200948078
|
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.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.5607C>T (p.Ile1869=)
|
rs751159969
|
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.5953G>A (p.Val1985Met)
|
rs200478135
|
0.00004
|
NM_004369.4(COL6A3):c.6452T>C (p.Val2151Ala)
|
rs540633944
|
0.00004
|
NM_004369.4(COL6A3):c.6461G>A (p.Arg2154Gln)
|
rs145561490
|
0.00004
|
NM_004369.4(COL6A3):c.6852C>T (p.Ile2284=)
|
rs374952003
|
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.7748C>T (p.Thr2583Met)
|
rs140021275
|
0.00004
|
NM_004369.4(COL6A3):c.7879G>A (p.Ala2627Thr)
|
rs776220123
|
0.00004
|
NM_004369.4(COL6A3):c.8231C>T (p.Thr2744Met)
|
rs373680762
|
0.00004
|
NM_004369.4(COL6A3):c.8270G>C (p.Arg2757Thr)
|
rs746608405
|
0.00004
|
NM_004369.4(COL6A3):c.8415C>T (p.Asn2805=)
|
rs375442243
|
0.00004
|
NM_004369.4(COL6A3):c.8567+2dup
|
rs776144262
|
0.00004
|
NM_004369.4(COL6A3):c.8639C>T (p.Thr2880Met)
|
rs770436761
|
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.1217G>A (p.Arg406His)
|
rs753651742
|
0.00003
|
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.175C>T (p.Arg59Ter)
|
rs398124119
|
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.2161T>C (p.Ser721Pro)
|
rs146794191
|
0.00003
|
NM_004369.4(COL6A3):c.2219G>A (p.Arg740His)
|
rs529827991
|
0.00003
|
NM_004369.4(COL6A3):c.2269G>A (p.Asp757Asn)
|
rs544229002
|
0.00003
|
NM_004369.4(COL6A3):c.2354A>C (p.Glu785Ala)
|
rs1312895317
|
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.2561T>C (p.Val854Ala)
|
rs747449879
|
0.00003
|
NM_004369.4(COL6A3):c.2730G>A (p.Thr910=)
|
rs367991818
|
0.00003
|
NM_004369.4(COL6A3):c.2993C>T (p.Ser998Leu)
|
rs774161895
|
0.00003
|
NM_004369.4(COL6A3):c.2998C>T (p.Pro1000Ser)
|
rs762584015
|
0.00003
|
NM_004369.4(COL6A3):c.3311C>T (p.Pro1104Leu)
|
rs371991808
|
0.00003
|
NM_004369.4(COL6A3):c.3371C>T (p.Ala1124Val)
|
rs374447921
|
0.00003
|
NM_004369.4(COL6A3):c.3472G>A (p.Gly1158Ser)
|
rs753056634
|
0.00003
|
NM_004369.4(COL6A3):c.3629G>A (p.Arg1210His)
|
rs373324548
|
0.00003
|
NM_004369.4(COL6A3):c.3653C>T (p.Pro1218Leu)
|
rs75071027
|
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.4197C>A (p.Ser1399Arg)
|
rs755091615
|
0.00003
|
NM_004369.4(COL6A3):c.4227G>A (p.Thr1409=)
|
rs142938239
|
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.4697C>T (p.Ser1566Leu)
|
rs752785838
|
0.00003
|
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=)
|
rs140516220
|
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.5315A>G (p.Lys1772Arg)
|
rs140929211
|
0.00003
|
NM_004369.4(COL6A3):c.5575G>A (p.Glu1859Lys)
|
rs886043180
|
0.00003
|
NM_004369.4(COL6A3):c.5822C>T (p.Ser1941Leu)
|
rs778288464
|
0.00003
|
NM_004369.4(COL6A3):c.5893G>C (p.Ala1965Pro)
|
rs1364239110
|
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.6224C>T (p.Pro2075Leu)
|
rs113331139
|
0.00003
|
NM_004369.4(COL6A3):c.6451G>C (p.Val2151Leu)
|
rs768565928
|
0.00003
|
NM_004369.4(COL6A3):c.6639C>A (p.Gly2213=)
|
rs765837100
|
0.00003
|
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu)
|
rs398124131
|
0.00003
|
NM_004369.4(COL6A3):c.686C>T (p.Thr229Met)
|
rs141586922
|
0.00003
|
NM_004369.4(COL6A3):c.7192G>A (p.Val2398Ile)
|
rs375640580
|
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.7687G>C (p.Gly2563Arg)
|
rs780964113
|
0.00003
|
NM_004369.4(COL6A3):c.774C>T (p.Phe258=)
|
rs766589204
|
0.00003
|
NM_004369.4(COL6A3):c.7768A>G (p.Ile2590Val)
|
rs372278071
|
0.00003
|
NM_004369.4(COL6A3):c.8008G>A (p.Ala2670Thr)
|
rs398124135
|
0.00003
|
NM_004369.4(COL6A3):c.804C>G (p.Leu268=)
|
rs372517103
|
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.8359G>A (p.Ala2787Thr)
|
rs763395740
|
0.00003
|
NM_004369.4(COL6A3):c.8377G>A (p.Val2793Ile)
|
rs569907876
|
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.8744C>T (p.Ala2915Val)
|
rs751532649
|
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.9329-33C>T
|
rs398124137
|
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.1571A>G (p.Tyr524Cys)
|
rs147546808
|
0.00002
|
NM_004369.4(COL6A3):c.1605C>T (p.Asn535=)
|
rs763426415
|
0.00002
|
NM_004369.4(COL6A3):c.1897+3A>G
|
rs369549597
|
0.00002
|
NM_004369.4(COL6A3):c.1920C>A (p.Ile640=)
|
rs988504831
|
0.00002
|
NM_004369.4(COL6A3):c.2189A>G (p.His730Arg)
|
rs760976593
|
0.00002
|
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=)
|
rs768242367
|
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.2756C>T (p.Ala919Val)
|
rs115327470
|
0.00002
|
NM_004369.4(COL6A3):c.2757G>A (p.Ala919=)
|
rs115874872
|
0.00002
|
NM_004369.4(COL6A3):c.2965T>C (p.Ser989Pro)
|
rs758482171
|
0.00002
|
NM_004369.4(COL6A3):c.3187G>A (p.Asp1063Asn)
|
rs760543147
|
0.00002
|
NM_004369.4(COL6A3):c.3228C>G (p.Thr1076=)
|
rs886042997
|
0.00002
|
NM_004369.4(COL6A3):c.3274G>A (p.Val1092Ile)
|
rs576798969
|
0.00002
|
NM_004369.4(COL6A3):c.3588C>T (p.Thr1196=)
|
rs1434102843
|
0.00002
|
NM_004369.4(COL6A3):c.3624C>T (p.Leu1208=)
|
rs376997896
|
0.00002
|
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=)
|
rs542411896
|
0.00002
|
NM_004369.4(COL6A3):c.3831C>T (p.Ser1277=)
|
rs114110705
|
0.00002
|
NM_004369.4(COL6A3):c.3923G>A (p.Arg1308Gln)
|
rs774461787
|
0.00002
|
NM_004369.4(COL6A3):c.4141A>T (p.Ile1381Phe)
|
rs750951694
|
0.00002
|
NM_004369.4(COL6A3):c.4404C>T (p.Ile1468=)
|
rs371075249
|
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.4979G>A (p.Arg1660His)
|
rs982703428
|
0.00002
|
NM_004369.4(COL6A3):c.5118C>T (p.Ile1706=)
|
rs766291321
|
0.00002
|
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val)
|
rs140513454
|
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.5632A>C (p.Ser1878Arg)
|
rs759503358
|
0.00002
|
NM_004369.4(COL6A3):c.5634C>T (p.Ser1878=)
|
rs770825082
|
0.00002
|
NM_004369.4(COL6A3):c.592T>G (p.Phe198Val)
|
rs754618002
|
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.6342G>A (p.Leu2114=)
|
rs886043269
|
0.00002
|
NM_004369.4(COL6A3):c.6394A>T (p.Asn2132Tyr)
|
rs750889657
|
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.6957A>G (p.Pro2319=)
|
rs777752945
|
0.00002
|
NM_004369.4(COL6A3):c.6998C>A (p.Thr2333Lys)
|
rs557578629
|
0.00002
|
NM_004369.4(COL6A3):c.7259G>A (p.Arg2420Gln)
|
rs772077690
|
0.00002
|
NM_004369.4(COL6A3):c.7446C>G (p.Ser2482=)
|
rs1439207088
|
0.00002
|
NM_004369.4(COL6A3):c.7777A>T (p.Ile2593Phe)
|
rs755107410
|
0.00002
|
NM_004369.4(COL6A3):c.8393T>C (p.Val2798Ala)
|
rs749169391
|
0.00002
|
NM_004369.4(COL6A3):c.8432G>A (p.Arg2811His)
|
rs769656291
|
0.00002
|
NM_004369.4(COL6A3):c.8825C>T (p.Ala2942Val)
|
rs757146083
|
0.00002
|
NM_004369.4(COL6A3):c.8854G>A (p.Val2952Ile)
|
rs536607503
|
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.1006C>T (p.Arg336Trp)
|
rs200720222
|
0.00001
|
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.1057A>G (p.Ile353Val)
|
rs2078187494
|
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.1147G>A (p.Ala383Thr)
|
rs146429448
|
0.00001
|
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)
|
rs181264679
|
0.00001
|
NM_004369.4(COL6A3):c.1322T>C (p.Val441Ala)
|
rs886042403
|
0.00001
|
NM_004369.4(COL6A3):c.1327A>G (p.Lys443Glu)
|
rs886043683
|
0.00001
|
NM_004369.4(COL6A3):c.1370G>T (p.Gly457Val)
|
rs377757978
|
0.00001
|
NM_004369.4(COL6A3):c.1432G>A (p.Gly478Arg)
|
rs777693832
|
0.00001
|
NM_004369.4(COL6A3):c.1502C>T (p.Thr501Ile)
|
rs776324215
|
0.00001
|
NM_004369.4(COL6A3):c.1514A>T (p.Lys505Ile)
|
rs747914812
|
0.00001
|
NM_004369.4(COL6A3):c.1529C>T (p.Thr510Ile)
|
rs555333405
|
0.00001
|
NM_004369.4(COL6A3):c.1558G>A (p.Gly520Ser)
|
rs776270797
|
0.00001
|
NM_004369.4(COL6A3):c.1559G>C (p.Gly520Ala)
|
rs770496206
|
0.00001
|
NM_004369.4(COL6A3):c.1620A>G (p.Ser540=)
|
rs200205650
|
0.00001
|
NM_004369.4(COL6A3):c.1639G>A (p.Glu547Lys)
|
rs1278327904
|
0.00001
|
NM_004369.4(COL6A3):c.1762G>A (p.Asp588Asn)
|
rs886043408
|
0.00001
|
NM_004369.4(COL6A3):c.1829C>T (p.Ala610Val)
|
rs1273141104
|
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.2232G>A (p.Pro744=)
|
rs368826874
|
0.00001
|
NM_004369.4(COL6A3):c.2261A>G (p.Gln754Arg)
|
rs762752112
|
0.00001
|
NM_004369.4(COL6A3):c.2342C>T (p.Ala781Val)
|
rs116753562
|
0.00001
|
NM_004369.4(COL6A3):c.2382C>A (p.Ser794Arg)
|
rs1309440736
|
0.00001
|
NM_004369.4(COL6A3):c.2411C>T (p.Ser804Phe)
|
rs2077916897
|
0.00001
|
NM_004369.4(COL6A3):c.2487C>T (p.Leu829=)
|
rs752530417
|
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.2732G>T (p.Gly911Val)
|
rs149310819
|
0.00001
|
NM_004369.4(COL6A3):c.2808C>T (p.Ile936=)
|
rs116256579
|
0.00001
|
NM_004369.4(COL6A3):c.2845G>A (p.Ala949Thr)
|
rs374960915
|
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.3067C>T (p.Pro1023Ser)
|
rs556864605
|
0.00001
|
NM_004369.4(COL6A3):c.3115G>A (p.Gly1039Ser)
|
rs1465296993
|
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.3238T>A (p.Phe1080Ile)
|
rs761490778
|
0.00001
|
NM_004369.4(COL6A3):c.3271G>A (p.Val1091Ile)
|
rs373915980
|
0.00001
|
NM_004369.4(COL6A3):c.3272T>A (p.Val1091Asp)
|
rs745854120
|
0.00001
|
NM_004369.4(COL6A3):c.3280G>A (p.Ala1094Thr)
|
rs369460632
|
0.00001
|
NM_004369.4(COL6A3):c.3319A>G (p.Asn1107Asp)
|
rs1574710031
|
0.00001
|
NM_004369.4(COL6A3):c.3462C>T (p.Val1154=)
|
rs762152367
|
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.3569C>A (p.Thr1190Asn)
|
rs369994205
|
0.00001
|
NM_004369.4(COL6A3):c.3575G>A (p.Arg1192His)
|
rs776312405
|
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.3630C>T (p.Arg1210=)
|
rs757349824
|
0.00001
|
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro)
|
rs772944531
|
0.00001
|
NM_004369.4(COL6A3):c.3715G>A (p.Asp1239Asn)
|
rs563617159
|
0.00001
|
NM_004369.4(COL6A3):c.3808C>T (p.Arg1270Trp)
|
rs781735632
|
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.3841A>G (p.Lys1281Glu)
|
rs886043888
|
0.00001
|
NM_004369.4(COL6A3):c.3859A>T (p.Asn1287Tyr)
|
rs35799634
|
0.00001
|
NM_004369.4(COL6A3):c.4065G>A (p.Pro1355=)
|
rs766856187
|
0.00001
|
NM_004369.4(COL6A3):c.4072G>A (p.Glu1358Lys)
|
rs762544728
|
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.4145C>T (p.Ser1382Leu)
|
rs767829363
|
0.00001
|
NM_004369.4(COL6A3):c.415G>A (p.Gly139Ser)
|
rs749386499
|
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.421G>A (p.Gly141Arg)
|
rs398124120
|
0.00001
|
NM_004369.4(COL6A3):c.4240G>C (p.Glu1414Gln)
|
rs539986030
|
0.00001
|
NM_004369.4(COL6A3):c.4257C>G (p.Leu1419=)
|
rs145889244
|
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.4524C>G (p.Leu1508=)
|
rs755902927
|
0.00001
|
NM_004369.4(COL6A3):c.4604G>A (p.Arg1535His)
|
rs115765346
|
0.00001
|
NM_004369.4(COL6A3):c.4726C>T (p.Arg1576Trp)
|
rs773979979
|
0.00001
|
NM_004369.4(COL6A3):c.4795T>C (p.Phe1599Leu)
|
rs911848582
|
0.00001
|
NM_004369.4(COL6A3):c.4835C>T (p.Ser1612Leu)
|
rs201532239
|
0.00001
|
NM_004369.4(COL6A3):c.4880C>A (p.Thr1627Asn)
|
rs149261556
|
0.00001
|
NM_004369.4(COL6A3):c.503C>T (p.Ala168Val)
|
rs757496683
|
0.00001
|
NM_004369.4(COL6A3):c.5085C>G (p.Asp1695Glu)
|
rs886044181
|
0.00001
|
NM_004369.4(COL6A3):c.5092A>G (p.Thr1698Ala)
|
rs762789220
|
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.514G>A (p.Val172Met)
|
rs1270503233
|
0.00001
|
NM_004369.4(COL6A3):c.5234A>G (p.Gln1745Arg)
|
rs756781502
|
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.5339A>G (p.Asn1780Ser)
|
rs750040219
|
0.00001
|
NM_004369.4(COL6A3):c.5392C>T (p.Arg1798Cys)
|
rs886044508
|
0.00001
|
NM_004369.4(COL6A3):c.5534G>T (p.Gly1845Val)
|
rs747200439
|
0.00001
|
NM_004369.4(COL6A3):c.5555T>C (p.Phe1852Ser)
|
rs148488423
|
0.00001
|
NM_004369.4(COL6A3):c.5649C>A (p.Pro1883=)
|
rs886044430
|
0.00001
|
NM_004369.4(COL6A3):c.5684C>T (p.Ser1895Leu)
|
rs760532694
|
0.00001
|
NM_004369.4(COL6A3):c.5750T>C (p.Met1917Thr)
|
rs398124124
|
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.5826G>A (p.Pro1942=)
|
rs113283088
|
0.00001
|
NM_004369.4(COL6A3):c.5910C>T (p.Arg1970=)
|
rs727503884
|
0.00001
|
NM_004369.4(COL6A3):c.5993G>A (p.Arg1998Gln)
|
rs767725940
|
0.00001
|
NM_004369.4(COL6A3):c.6040G>T (p.Asp2014Tyr)
|
rs376548186
|
0.00001
|
NM_004369.4(COL6A3):c.6156+5G>A
|
rs112374074
|
0.00001
|
NM_004369.4(COL6A3):c.6159T>C (p.Gly2053=)
|
rs1172901266
|
0.00001
|
NM_004369.4(COL6A3):c.6255G>A (p.Gln2085=)
|
rs777097924
|
0.00001
|
NM_004369.4(COL6A3):c.6372T>C (p.Pro2124=)
|
rs894679602
|
0.00001
|
NM_004369.4(COL6A3):c.6519C>T (p.Thr2173=)
|
rs776493521
|
0.00001
|
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser)
|
rs766458058
|
0.00001
|
NM_004369.4(COL6A3):c.6628-47G>C
|
rs398124130
|
0.00001
|
NM_004369.4(COL6A3):c.6677C>T (p.Thr2226Ile)
|
rs376621780
|
0.00001
|
NM_004369.4(COL6A3):c.6754-9C>G
|
rs886038542
|
0.00001
|
NM_004369.4(COL6A3):c.6833C>T (p.Pro2278Leu)
|
rs773775745
|
0.00001
|
NM_004369.4(COL6A3):c.6878C>T (p.Thr2293Met)
|
rs759657526
|
0.00001
|
NM_004369.4(COL6A3):c.6879+49G>A
|
rs398124132
|
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.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+8C>T
|
rs779535244
|
0.00001
|
NM_004369.4(COL6A3):c.7123G>A (p.Asp2375Asn)
|
rs778371231
|
0.00001
|
NM_004369.4(COL6A3):c.7158A>G (p.Lys2386=)
|
rs376714139
|
0.00001
|
NM_004369.4(COL6A3):c.7224C>G (p.Asp2408Glu)
|
rs377084627
|
0.00001
|
NM_004369.4(COL6A3):c.7255G>A (p.Gly2419Ser)
|
rs749446863
|
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.7322G>A (p.Arg2441Gln)
|
rs753090057
|
0.00001
|
NM_004369.4(COL6A3):c.7368G>A (p.Thr2456=)
|
rs778474394
|
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.7575G>A (p.Gln2525=)
|
rs752232293
|
0.00001
|
NM_004369.4(COL6A3):c.7744C>T (p.Leu2582Phe)
|
rs780850057
|
0.00001
|
NM_004369.4(COL6A3):c.787G>T (p.Asp263Tyr)
|
rs774576681
|
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.8032G>A (p.Ala2678Thr)
|
rs886044342
|
0.00001
|
NM_004369.4(COL6A3):c.8073C>A (p.Asp2691Glu)
|
rs886042689
|
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.8256G>A (p.Leu2752=)
|
rs769124771
|
0.00001
|
NM_004369.4(COL6A3):c.8375A>G (p.Asp2792Gly)
|
rs886044347
|
0.00001
|
NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=)
|
rs772967228
|
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.8428A>C (p.Met2810Leu)
|
rs886043574
|
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.8465G>A (p.Ser2822Asn)
|
rs1334499975
|
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.8584G>A (p.Val2862Ile)
|
rs371745862
|
0.00001
|
NM_004369.4(COL6A3):c.8615C>T (p.Thr2872Met)
|
rs759009226
|
0.00001
|
NM_004369.4(COL6A3):c.861C>G (p.Ser287Arg)
|
rs756380512
|
0.00001
|
NM_004369.4(COL6A3):c.8743G>A (p.Ala2915Thr)
|
rs377528704
|
0.00001
|
NM_004369.4(COL6A3):c.8798C>T (p.Pro2933Leu)
|
rs373550111
|
0.00001
|
NM_004369.4(COL6A3):c.8807T>C (p.Val2936Ala)
|
rs1218467207
|
0.00001
|
NM_004369.4(COL6A3):c.8924C>T (p.Ala2975Val)
|
rs557120711
|
0.00001
|
NM_004369.4(COL6A3):c.9005A>G (p.Glu3002Gly)
|
rs747642083
|
0.00001
|
NM_004369.4(COL6A3):c.9043C>T (p.Pro3015Ser)
|
rs529079748
|
0.00001
|
NM_004369.4(COL6A3):c.9082C>T (p.His3028Tyr)
|
rs745651769
|
0.00001
|
NM_004369.4(COL6A3):c.9180C>G (p.Cys3060Trp)
|
rs376939353
|
0.00001
|
NM_004369.4(COL6A3):c.9209A>G (p.Tyr3070Cys)
|
rs368568929
|
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.9284T>C (p.Ile3095Thr)
|
rs1064796356
|
0.00001
|
NM_004369.4(COL6A3):c.9290T>C (p.Leu3097Pro)
|
rs886042363
|
0.00001
|
NM_004369.4(COL6A3):c.1022G>T (p.Arg341Leu)
|
rs140510298
|
|
NM_004369.4(COL6A3):c.1035G>A (p.Gly345=)
|
rs886044426
|
|
NM_004369.4(COL6A3):c.1045G>T (p.Val349Leu)
|
rs1464663206
|
|
NM_004369.4(COL6A3):c.1077T>C (p.Ser359=)
|
rs886044010
|
|
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.1148C>G (p.Ala383Gly)
|
|
|
NM_004369.4(COL6A3):c.118ATA[1] (p.Ile41del)
|
rs886042334
|
|
NM_004369.4(COL6A3):c.11A>T (p.His4Leu)
|
rs777465480
|
|
NM_004369.4(COL6A3):c.1230C>A (p.Asp410Glu)
|
|
|
NM_004369.4(COL6A3):c.124T>G (p.Phe42Val)
|
rs1559280207
|
|
NM_004369.4(COL6A3):c.1275G>T (p.Arg425Ser)
|
rs370549716
|
|
NM_004369.4(COL6A3):c.128T>C (p.Leu43Pro)
|
|
|
NM_004369.4(COL6A3):c.1334A>T (p.Asp445Val)
|
|
|
NM_004369.4(COL6A3):c.1350G>A (p.Val450=)
|
rs886043010
|
|
NM_004369.4(COL6A3):c.1439_1450del (p.Asp480_Gln483del)
|
|
|
NM_004369.4(COL6A3):c.1444A>C (p.Ile482Leu)
|
|
|
NM_004369.4(COL6A3):c.1504C>T (p.His502Tyr)
|
rs2106370213
|
|
NM_004369.4(COL6A3):c.1510A>G (p.Thr504Ala)
|
|
|
NM_004369.4(COL6A3):c.1513A>G (p.Lys505Glu)
|
rs886044230
|
|
NM_004369.4(COL6A3):c.1514A>G (p.Lys505Arg)
|
rs747914812
|
|
NM_004369.4(COL6A3):c.1537C>T (p.Arg513Trp)
|
rs369379463
|
|
NM_004369.4(COL6A3):c.1555G>C (p.Asp519His)
|
|
|
NM_004369.4(COL6A3):c.1598G>C (p.Arg533Pro)
|
rs764614021
|
|
NM_004369.4(COL6A3):c.1687G>T (p.Asp563Tyr)
|
|
|
NM_004369.4(COL6A3):c.1694T>C (p.Ile565Thr)
|
|
|
NM_004369.4(COL6A3):c.170T>C (p.Leu57Pro)
|
|
|
NM_004369.4(COL6A3):c.1729A>G (p.Ile577Val)
|
|
|
NM_004369.4(COL6A3):c.1740T>G (p.Phe580Leu)
|
rs1553562483
|
|
NM_004369.4(COL6A3):c.1777G>A (p.Glu593Lys)
|
|
|
NM_004369.4(COL6A3):c.1791C>A (p.Phe597Leu)
|
rs76576170
|
|
NM_004369.4(COL6A3):c.1795T>C (p.Ser599Pro)
|
|
|
NM_004369.4(COL6A3):c.1795_1796delinsAT (p.Ser599Ile)
|
rs886043319
|
|
NM_004369.4(COL6A3):c.1834C>G (p.Pro612Ala)
|
|
|
NM_004369.4(COL6A3):c.1839G>T (p.Leu613Phe)
|
|
|
NM_004369.4(COL6A3):c.1846A>G (p.Met616Val)
|
rs886043993
|
|
NM_004369.4(COL6A3):c.1872C>A (p.Leu624=)
|
rs886044014
|
|
NM_004369.4(COL6A3):c.188A>G (p.Tyr63Cys)
|
rs886043105
|
|
NM_004369.4(COL6A3):c.1948G>A (p.Val650Ile)
|
rs149187225
|
|
NM_004369.4(COL6A3):c.1948G>T (p.Val650Phe)
|
|
|
NM_004369.4(COL6A3):c.194T>C (p.Val65Ala)
|
|
|
NM_004369.4(COL6A3):c.1979A>C (p.Asp660Ala)
|
rs1064797036
|
|
NM_004369.4(COL6A3):c.2011A>G (p.Ile671Val)
|
|
|
NM_004369.4(COL6A3):c.2030G>T (p.Arg677Leu)
|
rs35227432
|
|
NM_004369.4(COL6A3):c.2035G>T (p.Gly679Cys)
|
rs201031137
|
|
NM_004369.4(COL6A3):c.2042T>G (p.Val681Gly)
|
rs753741086
|
|
NM_004369.4(COL6A3):c.2083A>G (p.Thr695Ala)
|
rs1559258597
|
|
NM_004369.4(COL6A3):c.2086T>C (p.Tyr696His)
|
rs370342622
|
|
NM_004369.4(COL6A3):c.2094C>T (p.Thr698=)
|
rs1559258559
|
|
NM_004369.4(COL6A3):c.2095A>G (p.Lys699Glu)
|
|
|
NM_004369.4(COL6A3):c.2105T>C (p.Ile702Thr)
|
rs141068214
|
|
NM_004369.4(COL6A3):c.2120G>A (p.Arg707Lys)
|
|
|
NM_004369.4(COL6A3):c.212T>C (p.Val71Ala)
|
|
|
NM_004369.4(COL6A3):c.2145G>A (p.Ser715=)
|
rs375924639
|
|
NM_004369.4(COL6A3):c.2145G>T (p.Ser715=)
|
rs375924639
|
|
NM_004369.4(COL6A3):c.2146G>A (p.Gly716Ser)
|
rs1559258438
|
|
NM_004369.4(COL6A3):c.2180A>C (p.Tyr727Ser)
|
rs113393241
|
|
NM_004369.4(COL6A3):c.2183C>T (p.Ala728Val)
|
|
|
NM_004369.4(COL6A3):c.2210G>T (p.Ser737Ile)
|
rs1553561974
|
|
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys)
|
rs147182340
|
|
NM_004369.4(COL6A3):c.2303G>C (p.Arg768Pro)
|
|
|
NM_004369.4(COL6A3):c.2322T>A (p.Phe774Leu)
|
|
|
NM_004369.4(COL6A3):c.2324G>T (p.Cys775Phe)
|
rs756337970
|
|
NM_004369.4(COL6A3):c.2339A>G (p.Gln780Arg)
|
rs2106366752
|
|
NM_004369.4(COL6A3):c.2367T>A (p.Ile789=)
|
rs886043400
|
|
NM_004369.4(COL6A3):c.2462G>A (p.Ser821Asn)
|
|
|
NM_004369.4(COL6A3):c.2476G>A (p.Glu826Lys)
|
|
|
NM_004369.4(COL6A3):c.2488G>A (p.Ala830Thr)
|
rs77181645
|
|
NM_004369.4(COL6A3):c.2497+9C>T
|
rs774198344
|
|
NM_004369.4(COL6A3):c.2507G>T (p.Arg836Leu)
|
rs763810209
|
|
NM_004369.4(COL6A3):c.251A>G (p.Asn84Ser)
|
|
|
NM_004369.4(COL6A3):c.2544T>C (p.Leu848=)
|
rs1559255804
|
|
NM_004369.4(COL6A3):c.2566C>T (p.Arg856Cys)
|
|
|
NM_004369.4(COL6A3):c.2612A>C (p.Glu871Ala)
|
|
|
NM_004369.4(COL6A3):c.2613G>A (p.Glu871=)
|
rs1559255553
|
|
NM_004369.4(COL6A3):c.2644G>A (p.Asp882Asn)
|
|
|
NM_004369.4(COL6A3):c.264T>A (p.His88Gln)
|
|
|
NM_004369.4(COL6A3):c.2663C>G (p.Ser888Cys)
|
rs780855121
|
|
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met)
|
rs189356869
|
|
NM_004369.4(COL6A3):c.273C>T (p.Phe91=)
|
rs886042867
|
|
NM_004369.4(COL6A3):c.2774G>T (p.Arg925Met)
|
|
|
NM_004369.4(COL6A3):c.2848G>A (p.Gly950Arg)
|
|
|
NM_004369.4(COL6A3):c.2863C>T (p.Arg955Cys)
|
rs886043736
|
|
NM_004369.4(COL6A3):c.2879C>G (p.Ala960Gly)
|
rs543253703
|
|
NM_004369.4(COL6A3):c.2899G>A (p.Gly967Arg)
|
|
|
NM_004369.4(COL6A3):c.2909C>G (p.Pro970Arg)
|
rs886044591
|
|
NM_004369.4(COL6A3):c.2932G>T (p.Ala978Ser)
|
rs768292803
|
|
NM_004369.4(COL6A3):c.2937C>A (p.Asp979Glu)
|
rs763515820
|
|
NM_004369.4(COL6A3):c.2952G>C (p.Glu984Asp)
|
rs1553561212
|
|
NM_004369.4(COL6A3):c.2972C>A (p.Ala991Glu)
|
rs202185764
|
|
NM_004369.4(COL6A3):c.2977A>G (p.Ile993Val)
|
rs886042763
|
|
NM_004369.4(COL6A3):c.2984C>T (p.Ala995Val)
|
rs886042163
|
|
NM_004369.4(COL6A3):c.3040A>C (p.Lys1014Gln)
|
rs114284669
|
|
NM_004369.4(COL6A3):c.3045A>G (p.Ser1015=)
|
rs886042836
|
|
NM_004369.4(COL6A3):c.3059C>G (p.Ala1020Gly)
|
rs779382813
|
|
NM_004369.4(COL6A3):c.3092T>C (p.Val1031Ala)
|
|
|
NM_004369.4(COL6A3):c.3101T>C (p.Leu1034Pro)
|
rs2106361745
|
|
NM_004369.4(COL6A3):c.3105T>C (p.Asp1035=)
|
rs2077798088
|
|
NM_004369.4(COL6A3):c.3112G>A (p.Glu1038Lys)
|
|
|
NM_004369.4(COL6A3):c.3127_3129delinsAGT (p.Gly1043Ser)
|
|
|
NM_004369.4(COL6A3):c.3138G>T (p.Leu1046=)
|
rs780402445
|
|
NM_004369.4(COL6A3):c.3141G>C (p.Leu1047Phe)
|
rs746229521
|
|
NM_004369.4(COL6A3):c.3142A>G (p.Lys1048Glu)
|
|
|
NM_004369.4(COL6A3):c.3169A>T (p.Ser1057Cys)
|
rs1553560705
|
|
NM_004369.4(COL6A3):c.3171C>A (p.Ser1057Arg)
|
|
|
NM_004369.4(COL6A3):c.3178G>A (p.Val1060Met)
|
rs1277217858
|
|
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.3250T>C (p.Ser1084Pro)
|
|
|
NM_004369.4(COL6A3):c.3256A>G (p.Met1086Val)
|
rs1559250887
|
|
NM_004369.4(COL6A3):c.3307G>C (p.Gly1103Arg)
|
|
|
NM_004369.4(COL6A3):c.3318C>T (p.Pro1106=)
|
rs1200436620
|
|
NM_004369.4(COL6A3):c.3371C>A (p.Ala1124Glu)
|
|
|
NM_004369.4(COL6A3):c.3382A>G (p.Ile1128Val)
|
rs372844024
|
|
NM_004369.4(COL6A3):c.3412G>A (p.Val1138Ile)
|
rs199964760
|
|
NM_004369.4(COL6A3):c.3429G>T (p.Arg1143Ser)
|
|
|
NM_004369.4(COL6A3):c.3430T>C (p.Ser1144Pro)
|
|
|
NM_004369.4(COL6A3):c.3475G>C (p.Gly1159Arg)
|
rs146313030
|
|
NM_004369.4(COL6A3):c.3478G>T (p.Ala1160Ser)
|
|
|
NM_004369.4(COL6A3):c.3494T>A (p.Ile1165Asn)
|
|
|
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe)
|
rs886042996
|
|
NM_004369.4(COL6A3):c.34G>T (p.Val12Phe)
|
rs137910388
|
|
NM_004369.4(COL6A3):c.3579G>T (p.Gln1193His)
|
|
|
NM_004369.4(COL6A3):c.3584G>A (p.Gly1195Glu)
|
|
|
NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile)
|
rs748053172
|
|
NM_004369.4(COL6A3):c.3595C>G (p.Gln1199Glu)
|
rs886042510
|
|
NM_004369.4(COL6A3):c.3626C>T (p.Thr1209Ile)
|
rs780311080
|
|
NM_004369.4(COL6A3):c.362G>T (p.Gly121Val)
|
|
|
NM_004369.4(COL6A3):c.3650_3651delinsTT (p.Gln1217Leu)
|
|
|
NM_004369.4(COL6A3):c.3664C>T (p.Pro1222Ser)
|
rs1553560314
|
|
NM_004369.4(COL6A3):c.3737C>T (p.Pro1246Leu)
|
|
|
NM_004369.4(COL6A3):c.374T>C (p.Ile125Thr)
|
rs886044375
|
|
NM_004369.4(COL6A3):c.3760C>T (p.Leu1254Phe)
|
rs886044373
|
|
NM_004369.4(COL6A3):c.378G>A (p.Met126Ile)
|
|
|
NM_004369.4(COL6A3):c.3790G>C (p.Val1264Leu)
|
|
|
NM_004369.4(COL6A3):c.3806C>T (p.Thr1269Ile)
|
rs1064796775
|
|
NM_004369.4(COL6A3):c.3810G>T (p.Arg1270=)
|
rs886042792
|
|
NM_004369.4(COL6A3):c.3824A>G (p.Gln1275Arg)
|
|
|
NM_004369.4(COL6A3):c.3832G>A (p.Asp1278Asn)
|
rs752309834
|
|
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met)
|
rs535661345
|
|
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.3909G>T (p.Arg1303Ser)
|
rs1559245709
|
|
NM_004369.4(COL6A3):c.3982C>T (p.Leu1328=)
|
rs727503885
|
|
NM_004369.4(COL6A3):c.3983T>C (p.Leu1328Pro)
|
rs1202069531
|
|
NM_004369.4(COL6A3):c.3991C>T (p.Arg1331Cys)
|
rs750341446
|
|
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=)
|
rs114498197
|
|
NM_004369.4(COL6A3):c.4019T>C (p.Leu1340Pro)
|
|
|
NM_004369.4(COL6A3):c.4085T>C (p.Phe1362Ser)
|
rs745420792
|
|
NM_004369.4(COL6A3):c.4091T>C (p.Val1364Ala)
|
|
|
NM_004369.4(COL6A3):c.4146G>T (p.Ser1382=)
|
rs114791158
|
|
NM_004369.4(COL6A3):c.4162G>A (p.Val1388Met)
|
|
|
NM_004369.4(COL6A3):c.4173G>A (p.Val1391=)
|
rs1553559164
|
|
NM_004369.4(COL6A3):c.4175G>A (p.Ser1392Asn)
|
|
|
NM_004369.4(COL6A3):c.4178C>G (p.Thr1393Ser)
|
rs1559244559
|
|
NM_004369.4(COL6A3):c.4222A>G (p.Ile1408Val)
|
|
|
NM_004369.4(COL6A3):c.4234A>T (p.Thr1412Ser)
|
rs764522621
|
|
NM_004369.4(COL6A3):c.4239A>G (p.Ser1413=)
|
rs759052298
|
|
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.426C>T (p.Val142=)
|
rs750780415
|
|
NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser)
|
|
|
NM_004369.4(COL6A3):c.4324G>A (p.Asp1442Asn)
|
rs772700553
|
|
NM_004369.4(COL6A3):c.4346C>A (p.Pro1449Gln)
|
|
|
NM_004369.4(COL6A3):c.4378A>G (p.Ser1460Gly)
|
rs1286385833
|
|
NM_004369.4(COL6A3):c.4412G>A (p.Ser1471Asn)
|
|
|
NM_004369.4(COL6A3):c.4413T>C (p.Ser1471=)
|
rs772068886
|
|
NM_004369.4(COL6A3):c.4415A>T (p.Lys1472Ile)
|
|
|
NM_004369.4(COL6A3):c.4423G>T (p.Val1475Phe)
|
rs886042375
|
|
NM_004369.4(COL6A3):c.4424T>C (p.Val1475Ala)
|
rs1216842831
|
|
NM_004369.4(COL6A3):c.4457C>A (p.Pro1486Gln)
|
|
|
NM_004369.4(COL6A3):c.4466A>G (p.Tyr1489Cys)
|
|
|
NM_004369.4(COL6A3):c.4504G>T (p.Ala1502Ser)
|
rs201722265
|
|
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.4529G>T (p.Gly1510Val)
|
|
|
NM_004369.4(COL6A3):c.4555G>A (p.Ala1519Thr)
|
rs2077618678
|
|
NM_004369.4(COL6A3):c.4577A>T (p.Asn1526Ile)
|
|
|
NM_004369.4(COL6A3):c.4598G>A (p.Gly1533Glu)
|
|
|
NM_004369.4(COL6A3):c.4608A>G (p.Ile1536Met)
|
rs755925219
|
|
NM_004369.4(COL6A3):c.4615G>A (p.Gly1539Arg)
|
|
|
NM_004369.4(COL6A3):c.4678G>A (p.Ala1560Thr)
|
rs371631320
|
|
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.4729A>G (p.Asn1577Asp)
|
rs1559239453
|
|
NM_004369.4(COL6A3):c.4735G>A (p.Asp1579Asn)
|
|
|
NM_004369.4(COL6A3):c.4786G>T (p.Val1596Leu)
|
rs886042267
|
|
NM_004369.4(COL6A3):c.479T>C (p.Leu160Pro)
|
rs2106388155
|
|
NM_004369.4(COL6A3):c.4817A>G (p.Glu1606Gly)
|
rs1064796167
|
|
NM_004369.4(COL6A3):c.4844C>A (p.Pro1615His)
|
rs886044653
|
|
NM_004369.4(COL6A3):c.4849G>T (p.Ala1617Ser)
|
rs200433282
|
|
NM_004369.4(COL6A3):c.4873G>A (p.Val1625Met)
|
rs398124121
|
|
NM_004369.4(COL6A3):c.4880C>T (p.Thr1627Ile)
|
rs149261556
|
|
NM_004369.4(COL6A3):c.4942A>G (p.Ile1648Val)
|
rs941055048
|
|
NM_004369.4(COL6A3):c.4978C>T (p.Arg1660Cys)
|
rs1553556695
|
|
NM_004369.4(COL6A3):c.4984G>T (p.Val1662Leu)
|
rs886043879
|
|
NM_004369.4(COL6A3):c.5000A>G (p.Asp1667Gly)
|
|
|
NM_004369.4(COL6A3):c.5041G>C (p.Val1681Leu)
|
|
|
NM_004369.4(COL6A3):c.5067C>A (p.Asp1689Glu)
|
rs370475865
|
|
NM_004369.4(COL6A3):c.5126T>A (p.Val1709Glu)
|
rs1553556583
|
|
NM_004369.4(COL6A3):c.5137G>A (p.Gly1713Arg)
|
|
|
NM_004369.4(COL6A3):c.5148C>T (p.His1716=)
|
rs114845780
|
|
NM_004369.4(COL6A3):c.5170G>A (p.Glu1724Lys)
|
rs398124122
|
|
NM_004369.4(COL6A3):c.5176C>A (p.Leu1726Met)
|
rs2106350728
|
|
NM_004369.4(COL6A3):c.5203G>T (p.Ala1735Ser)
|
rs886044189
|
|
NM_004369.4(COL6A3):c.5225G>A (p.Arg1742Gln)
|
rs886042855
|
|
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly)
|
rs150200531
|
|
NM_004369.4(COL6A3):c.5296C>G (p.Leu1766Val)
|
rs886043939
|
|
NM_004369.4(COL6A3):c.5307G>T (p.Arg1769Ser)
|
rs755698278
|
|
NM_004369.4(COL6A3):c.5359G>A (p.Gly1787Arg)
|
rs2106350453
|
|
NM_004369.4(COL6A3):c.5378G>A (p.Ser1793Asn)
|
rs886042944
|
|
NM_004369.4(COL6A3):c.5426G>A (p.Ser1809Asn)
|
rs1553556280
|
|
NM_004369.4(COL6A3):c.5452G>A (p.Asp1818Asn)
|
|
|
NM_004369.4(COL6A3):c.5479G>A (p.Gly1827Ser)
|
rs1440752292
|
|
NM_004369.4(COL6A3):c.5522T>C (p.Leu1841Pro)
|
rs886043336
|
|
NM_004369.4(COL6A3):c.5522T>G (p.Leu1841Arg)
|
rs886043336
|
|
NM_004369.4(COL6A3):c.5525G>A (p.Gly1842Glu)
|
rs886042678
|
|
NM_004369.4(COL6A3):c.5542G>T (p.Asp1848Tyr)
|
rs78904746
|
|
NM_004369.4(COL6A3):c.5550T>G (p.Asn1850Lys)
|
rs1482232293
|
|
NM_004369.4(COL6A3):c.5569G>A (p.Gly1857Ser)
|
|
|
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.5622G>A (p.Arg1874=)
|
rs886044022
|
|
NM_004369.4(COL6A3):c.5632_5633delinsCC (p.Ser1878Pro)
|
rs1559234936
|
|
NM_004369.4(COL6A3):c.5645C>T (p.Ser1882Leu)
|
rs368943871
|
|
NM_004369.4(COL6A3):c.5678C>G (p.Thr1893Arg)
|
rs143389941
|
|
NM_004369.4(COL6A3):c.5753G>A (p.Arg1918His)
|
rs139230842
|
|
NM_004369.4(COL6A3):c.576G>T (p.Pro192=)
|
rs141560881
|
|
NM_004369.4(COL6A3):c.5794G>A (p.Val1932Ile)
|
rs113817270
|
|
NM_004369.4(COL6A3):c.5809T>G (p.Phe1937Val)
|
|
|
NM_004369.4(COL6A3):c.5829C>G (p.Asp1943Glu)
|
|
|
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met)
|
rs113332380
|
|
NM_004369.4(COL6A3):c.5838+5G>A
|
rs1553555753
|
|
NM_004369.4(COL6A3):c.5879C>T (p.Ala1960Val)
|
|
|
NM_004369.4(COL6A3):c.5892A>T (p.Arg1964Ser)
|
|
|
NM_004369.4(COL6A3):c.5893G>A (p.Ala1965Thr)
|
rs1364239110
|
|
NM_004369.4(COL6A3):c.58T>A (p.Phe20Ile)
|
|
|
NM_004369.4(COL6A3):c.5908C>T (p.Arg1970Cys)
|
rs886042371
|
|
NM_004369.4(COL6A3):c.5924G>A (p.Arg1975His)
|
|
|
NM_004369.4(COL6A3):c.5938G>C (p.Val1980Leu)
|
|
|
NM_004369.4(COL6A3):c.5951G>A (p.Arg1984Gln)
|
rs1362987398
|
|
NM_004369.4(COL6A3):c.6053C>A (p.Ala2018Glu)
|
|
|
NM_004369.4(COL6A3):c.6063+8T>G
|
rs1171003491
|
|
NM_004369.4(COL6A3):c.6066C>T (p.Asp2022=)
|
rs886044237
|
|
NM_004369.4(COL6A3):c.6070A>G (p.Ile2024Val)
|
|
|
NM_004369.4(COL6A3):c.6071T>C (p.Ile2024Thr)
|
|
|
NM_004369.4(COL6A3):c.6076G>A (p.Glu2026Lys)
|
|
|
NM_004369.4(COL6A3):c.6092G>A (p.Gly2031Glu)
|
|
|
NM_004369.4(COL6A3):c.6130G>A (p.Gly2044Arg)
|
rs1559229322
|
|
NM_004369.4(COL6A3):c.6156G>C (p.Lys2052Asn)
|
rs398124125
|
|
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)
|
rs760446904
|
|
NM_004369.4(COL6A3):c.6210+5G>T
|
rs886044593
|
|
NM_004369.4(COL6A3):c.6211-4A>G
|
rs398124127
|
|
NM_004369.4(COL6A3):c.6245A>C (p.Gln2082Pro)
|
|
|
NM_004369.4(COL6A3):c.6282G>A (p.Lys2094=)
|
rs1574976498
|
|
NM_004369.4(COL6A3):c.6354+5G>A
|
|
|
NM_004369.4(COL6A3):c.6427G>A (p.Gly2143Arg)
|
|
|
NM_004369.4(COL6A3):c.6529G>A (p.Gly2177Ser)
|
|
|
NM_004369.4(COL6A3):c.6533C>G (p.Pro2178Arg)
|
rs762287373
|
|
NM_004369.4(COL6A3):c.6538-4C>T
|
rs886044433
|
|
NM_004369.4(COL6A3):c.6571C>T (p.Pro2191Ser)
|
rs370056446
|
|
NM_004369.4(COL6A3):c.6581C>A (p.Thr2194Asn)
|
|
|
NM_004369.4(COL6A3):c.6614C>T (p.Pro2205Leu)
|
|
|
NM_004369.4(COL6A3):c.6617C>G (p.Pro2206Arg)
|
rs1451371831
|
|
NM_004369.4(COL6A3):c.6622G>T (p.Ala2208Ser)
|
rs398124129
|
|
NM_004369.4(COL6A3):c.6627+3G>A
|
|
|
NM_004369.4(COL6A3):c.6639C>T (p.Gly2213=)
|
rs765837100
|
|
NM_004369.4(COL6A3):c.6646G>A (p.Gly2216Ser)
|
|
|
NM_004369.4(COL6A3):c.6692G>T (p.Gly2231Val)
|
|
|
NM_004369.4(COL6A3):c.6703C>T (p.Pro2235Ser)
|
|
|
NM_004369.4(COL6A3):c.6739A>G (p.Ile2247Val)
|
rs1473692842
|
|
NM_004369.4(COL6A3):c.6760G>A (p.Gly2254Arg)
|
|
|
NM_004369.4(COL6A3):c.6794G>C (p.Arg2265Thr)
|
|
|
NM_004369.4(COL6A3):c.6796A>G (p.Thr2266Ala)
|
rs1553550496
|
|
NM_004369.4(COL6A3):c.6798C>G (p.Thr2266=)
|
rs116541926
|
|
NM_004369.4(COL6A3):c.6801T>C (p.Gly2267=)
|
rs2077197822
|
|
NM_004369.4(COL6A3):c.6817-5T>C
|
rs794727464
|
|
NM_004369.4(COL6A3):c.6817-6G>A
|
rs886042773
|
|
NM_004369.4(COL6A3):c.6869G>A (p.Arg2290His)
|
rs398124131
|
|
NM_004369.4(COL6A3):c.6871G>T (p.Gly2291Trp)
|
rs727502836
|
|
NM_004369.4(COL6A3):c.6879G>A (p.Thr2293=)
|
rs886044656
|
|
NM_004369.4(COL6A3):c.6897C>A (p.Asp2299Glu)
|
|
|
NM_004369.4(COL6A3):c.6916C>T (p.Arg2306Cys)
|
|
|
NM_004369.4(COL6A3):c.6946C>T (p.Pro2316Ser)
|
rs1243164167
|
|
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.7030-4C>G
|
rs886042395
|
|
NM_004369.4(COL6A3):c.7045C>T (p.Pro2349Ser)
|
rs886044470
|
|
NM_004369.4(COL6A3):c.7069G>A (p.Asp2357Asn)
|
|
|
NM_004369.4(COL6A3):c.70C>T (p.His24Tyr)
|
|
|
NM_004369.4(COL6A3):c.7174+4A>C
|
rs398124133
|
|
NM_004369.4(COL6A3):c.7175-6C>A
|
rs199723531
|
|
NM_004369.4(COL6A3):c.7175-6C>G
|
rs199723531
|
|
NM_004369.4(COL6A3):c.7192G>C (p.Val2398Leu)
|
|
|
NM_004369.4(COL6A3):c.7226C>T (p.Thr2409Ile)
|
|
|
NM_004369.4(COL6A3):c.7256G>C (p.Gly2419Ala)
|
rs1339553173
|
|
NM_004369.4(COL6A3):c.7264C>G (p.Arg2422Gly)
|
rs878854379
|
|
NM_004369.4(COL6A3):c.7300A>G (p.Ile2434Val)
|
|
|
NM_004369.4(COL6A3):c.7310G>A (p.Ser2437Asn)
|
|
|
NM_004369.4(COL6A3):c.7357G>A (p.Glu2453Lys)
|
rs886044364
|
|
NM_004369.4(COL6A3):c.7394G>T (p.Arg2465Met)
|
|
|
NM_004369.4(COL6A3):c.7398G>A (p.Lys2466=)
|
rs758223638
|
|
NM_004369.4(COL6A3):c.7425C>A (p.Asn2475Lys)
|
rs998223951
|
|
NM_004369.4(COL6A3):c.7430A>G (p.Gln2477Arg)
|
|
|
NM_004369.4(COL6A3):c.7435G>A (p.Ala2479Thr)
|
|
|
NM_004369.4(COL6A3):c.7451A>C (p.Gln2484Pro)
|
rs1574948119
|
|
NM_004369.4(COL6A3):c.7461G>A (p.Leu2487=)
|
rs886044388
|
|
NM_004369.4(COL6A3):c.7469C>T (p.Ala2490Val)
|
|
|
NM_004369.4(COL6A3):c.7480G>T (p.Val2494Leu)
|
rs886044163
|
|
NM_004369.4(COL6A3):c.74C>A (p.Ala25Asp)
|
rs398124134
|
|
NM_004369.4(COL6A3):c.7546A>G (p.Ser2516Gly)
|
rs749651818
|
|
NM_004369.4(COL6A3):c.7586C>T (p.Ala2529Val)
|
|
|
NM_004369.4(COL6A3):c.7587T>C (p.Ala2529=)
|
rs1559206457
|
|
NM_004369.4(COL6A3):c.758C>A (p.Thr253Asn)
|
rs201283466
|
|
NM_004369.4(COL6A3):c.7609G>C (p.Gly2537Arg)
|
|
|
NM_004369.4(COL6A3):c.7611G>A (p.Gly2537=)
|
rs145868338
|
|
NM_004369.4(COL6A3):c.7616C>T (p.Thr2539Ile)
|
rs2077055134
|
|
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=)
|
rs151079701
|
|
NM_004369.4(COL6A3):c.7655T>A (p.Ile2552Asn)
|
|
|
NM_004369.4(COL6A3):c.7682C>T (p.Ala2561Val)
|
|
|
NM_004369.4(COL6A3):c.7695G>T (p.Ala2565=)
|
rs200456255
|
|
NM_004369.4(COL6A3):c.7706C>G (p.Pro2569Arg)
|
rs794727598
|
|
NM_004369.4(COL6A3):c.7728C>T (p.Asp2576=)
|
rs886043891
|
|
NM_004369.4(COL6A3):c.7754A>G (p.His2585Arg)
|
rs886043033
|
|
NM_004369.4(COL6A3):c.7767C>A (p.Asp2589Glu)
|
rs1553546746
|
|
NM_004369.4(COL6A3):c.77A>C (p.Gln26Pro)
|
|
|
NM_004369.4(COL6A3):c.7843G>A (p.Asp2615Asn)
|
rs145884404
|
|
NM_004369.4(COL6A3):c.7851C>G (p.Asp2617Glu)
|
|
|
NM_004369.4(COL6A3):c.787G>C (p.Asp263His)
|
|
|
NM_004369.4(COL6A3):c.7898T>G (p.Phe2633Cys)
|
|
|
NM_004369.4(COL6A3):c.7908T>C (p.Asn2636=)
|
rs886044691
|
|
NM_004369.4(COL6A3):c.7924A>G (p.Ile2642Val)
|
|
|
NM_004369.4(COL6A3):c.7927G>T (p.Ala2643Ser)
|
|
|
NM_004369.4(COL6A3):c.7936G>C (p.Val2646Leu)
|
rs1419214464
|
|
NM_004369.4(COL6A3):c.7937T>C (p.Val2646Ala)
|
rs1559201211
|
|
NM_004369.4(COL6A3):c.7949A>G (p.Asp2650Gly)
|
rs1553546590
|
|
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=)
|
rs375222168
|
|
NM_004369.4(COL6A3):c.7993G>T (p.Ala2665Ser)
|
rs1559201034
|
|
NM_004369.4(COL6A3):c.8003A>G (p.Gln2668Arg)
|
rs2106319884
|
|
NM_004369.4(COL6A3):c.8014_8016dup (p.Ser2672_Glu2673insSer)
|
|
|
NM_004369.4(COL6A3):c.8063C>T (p.Ser2688Phe)
|
|
|
NM_004369.4(COL6A3):c.808G>C (p.Glu270Gln)
|
|
|
NM_004369.4(COL6A3):c.8161T>G (p.Tyr2721Asp)
|
rs886044361
|
|
NM_004369.4(COL6A3):c.8196C>G (p.Asn2732Lys)
|
|
|
NM_004369.4(COL6A3):c.8218G>C (p.Val2740Leu)
|
rs754870088
|
|
NM_004369.4(COL6A3):c.8278C>G (p.Leu2760Val)
|
|
|
NM_004369.4(COL6A3):c.8291G>A (p.Cys2764Tyr)
|
|
|
NM_004369.4(COL6A3):c.8308G>A (p.Val2770Met)
|
rs886044644
|
|
NM_004369.4(COL6A3):c.8327G>A (p.Arg2776Lys)
|
|
|
NM_004369.4(COL6A3):c.8337C>A (p.Asn2779Lys)
|
rs1338421880
|
|
NM_004369.4(COL6A3):c.8344G>A (p.Glu2782Lys)
|
rs794727603
|
|
NM_004369.4(COL6A3):c.8397C>T (p.Asp2799=)
|
rs1553546085
|
|
NM_004369.4(COL6A3):c.8411T>C (p.Leu2804Pro)
|
rs1553546077
|
|
NM_004369.4(COL6A3):c.8491G>T (p.Asp2831Tyr)
|
|
|
NM_004369.4(COL6A3):c.8506T>C (p.Cys2836Arg)
|
rs1553545646
|
|
NM_004369.4(COL6A3):c.8513G>C (p.Trp2838Ser)
|
rs1272949216
|
|
NM_004369.4(COL6A3):c.8515T>A (p.Phe2839Ile)
|
|
|
NM_004369.4(COL6A3):c.8519A>C (p.Gln2840Pro)
|
|
|
NM_004369.4(COL6A3):c.8549A>G (p.Lys2850Arg)
|
|
|
NM_004369.4(COL6A3):c.8575C>A (p.Pro2859Thr)
|
rs886042577
|
|
NM_004369.4(COL6A3):c.8579A>G (p.Asn2860Ser)
|
|
|
NM_004369.4(COL6A3):c.861C>T (p.Ser287=)
|
rs756380512
|
|
NM_004369.4(COL6A3):c.8626C>G (p.Pro2876Ala)
|
|
|
NM_004369.4(COL6A3):c.8634_8651del (p.2875KPVTTT[1])
|
rs780678900
|
|
NM_004369.4(COL6A3):c.8665C>A (p.Pro2889Thr)
|
|
|
NM_004369.4(COL6A3):c.8680A>G (p.Thr2894Ala)
|
|
|
NM_004369.4(COL6A3):c.8698A>C (p.Ile2900Leu)
|
rs1553544853
|
|
NM_004369.4(COL6A3):c.8698A>G (p.Ile2900Val)
|
rs1553544853
|
|
NM_004369.4(COL6A3):c.870C>G (p.Pro290=)
|
rs1574740624
|
|
NM_004369.4(COL6A3):c.8723C>G (p.Ala2908Gly)
|
|
|
NM_004369.4(COL6A3):c.8782G>A (p.Ala2928Thr)
|
|
|
NM_004369.4(COL6A3):c.878T>C (p.Met293Thr)
|
rs1361910233
|
|
NM_004369.4(COL6A3):c.8834T>A (p.Val2945Glu)
|
rs2106314327
|
|
NM_004369.4(COL6A3):c.8866G>A (p.Ala2956Thr)
|
rs773820329
|
|
NM_004369.4(COL6A3):c.8868TGC[5] (p.Ala2960dup)
|
rs35879189
|
|
NM_004369.4(COL6A3):c.8875G>T (p.Ala2959Ser)
|
rs774645319
|
|
NM_004369.4(COL6A3):c.892A>G (p.Thr298Ala)
|
|
|
NM_004369.4(COL6A3):c.8930C>T (p.Pro2977Leu)
|
rs1162901275
|
|
NM_004369.4(COL6A3):c.8939C>T (p.Thr2980Ile)
|
|
|
NM_004369.4(COL6A3):c.8945C>T (p.Pro2982Leu)
|
rs1700531524
|
|
NM_004369.4(COL6A3):c.8972T>A (p.Met2991Lys)
|
|
|
NM_004369.4(COL6A3):c.8974T>A (p.Ser2992Thr)
|
rs886042804
|
|
NM_004369.4(COL6A3):c.898_900del (p.Ser300del)
|
rs554176183
|
|
NM_004369.4(COL6A3):c.9080C>T (p.Ala3027Val)
|
rs1299012840
|
|
NM_004369.4(COL6A3):c.9096G>C (p.Leu3032=)
|
rs147327623
|
|
NM_004369.4(COL6A3):c.913G>A (p.Val305Ile)
|
rs564041158
|
|
NM_004369.4(COL6A3):c.9152G>C (p.Gly3051Ala)
|
|
|
NM_004369.4(COL6A3):c.9192T>G (p.Ser3064=)
|
rs1253951128
|
|
NM_004369.4(COL6A3):c.9201A>C (p.Arg3067Ser)
|
|
|
NM_004369.4(COL6A3):c.9230-4A>G
|
rs1559190144
|
|
NM_004369.4(COL6A3):c.9330T>A (p.Asp3110Glu)
|
rs1057524148
|
|
NM_004369.4(COL6A3):c.9332T>C (p.Ile3111Thr)
|
|
|