NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
NM_000094.4(COL7A1):c.54G>C (p.Ala18=)
|
rs35899847
|
0.00343
|
NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=)
|
rs151111203
|
0.00322
|
NM_000094.4(COL7A1):c.8472C>T (p.Ala2824=)
|
rs116591500
|
0.00322
|
NM_000094.4(COL7A1):c.5154+5T>C
|
rs2854400
|
0.00317
|
NM_000094.4(COL7A1):c.4612C>T (p.Arg1538Cys)
|
rs149711883
|
0.00288
|
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys)
|
rs2228563
|
0.00287
|
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser)
|
rs35623035
|
0.00285
|
NM_000094.4(COL7A1):c.5259C>T (p.Pro1753=)
|
rs151261530
|
0.00267
|
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=)
|
rs146901730
|
0.00220
|
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=)
|
rs141290741
|
0.00212
|
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His)
|
rs149011081
|
0.00166
|
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu)
|
rs79378857
|
0.00150
|
NM_000094.4(COL7A1):c.1613G>A (p.Arg538His)
|
rs138791004
|
0.00138
|
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=)
|
rs139521707
|
0.00121
|
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu)
|
rs140114392
|
0.00113
|
NM_000094.4(COL7A1):c.8530C>T (p.Arg2844Trp)
|
rs138002006
|
0.00089
|
NM_000094.4(COL7A1):c.8791C>T (p.Pro2931Ser)
|
rs145381088
|
0.00086
|
NM_000094.4(COL7A1):c.4222C>T (p.Arg1408Trp)
|
rs143126677
|
0.00084
|
NM_000094.4(COL7A1):c.2010C>T (p.Gly670=)
|
rs74861804
|
0.00068
|
NM_000094.4(COL7A1):c.4312G>A (p.Val1438Ile)
|
rs148625586
|
0.00066
|
NM_000094.4(COL7A1):c.13C>G (p.Leu5Val)
|
rs201242396
|
0.00063
|
NM_000094.4(COL7A1):c.5217T>A (p.Pro1739=)
|
rs147611409
|
0.00061
|
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu)
|
rs143221297
|
0.00061
|
NM_000094.4(COL7A1):c.933C>T (p.Tyr311=)
|
rs121912830
|
0.00056
|
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=)
|
rs150776274
|
0.00055
|
NM_000094.4(COL7A1):c.6279+4A>T
|
rs370622769
|
0.00054
|
NM_000094.4(COL7A1):c.810G>A (p.Thr270=)
|
rs138770708
|
0.00052
|
NM_000094.4(COL7A1):c.5769G>A (p.Glu1923=)
|
rs143843471
|
0.00046
|
NM_000094.4(COL7A1):c.3140-4A>T
|
rs201656230
|
0.00045
|
NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val)
|
rs144825552
|
0.00044
|
NM_000094.4(COL7A1):c.592G>A (p.Val198Ile)
|
rs147177277
|
0.00044
|
NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg)
|
rs139622306
|
0.00043
|
NM_000094.4(COL7A1):c.4046C>T (p.Pro1349Leu)
|
rs184756277
|
0.00043
|
NM_000094.4(COL7A1):c.4899+17G>A
|
rs368123421
|
0.00043
|
NM_000094.4(COL7A1):c.2544C>T (p.Val848=)
|
rs139545952
|
0.00041
|
NM_000094.4(COL7A1):c.2449A>G (p.Met817Val)
|
rs147017402
|
0.00040
|
NM_000094.4(COL7A1):c.1411T>C (p.Leu471=)
|
rs139564795
|
0.00039
|
NM_000094.4(COL7A1):c.2106C>T (p.Val702=)
|
rs75551775
|
0.00039
|
NM_000094.4(COL7A1):c.4120-9C>A
|
rs199914077
|
0.00038
|
NM_000094.4(COL7A1):c.5930G>T (p.Arg1977Leu)
|
rs182669506
|
0.00038
|
NM_000094.4(COL7A1):c.4992A>C (p.Gly1664=)
|
rs139988431
|
0.00036
|
NM_000094.4(COL7A1):c.5956G>A (p.Glu1986Lys)
|
rs144208360
|
0.00035
|
NM_000094.4(COL7A1):c.2600C>T (p.Pro867Leu)
|
rs191043504
|
0.00034
|
NM_000094.4(COL7A1):c.4564-16C>A
|
rs202014756
|
0.00034
|
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys)
|
rs144557024
|
0.00034
|
NM_000094.4(COL7A1):c.8541T>C (p.Pro2847=)
|
rs79473918
|
0.00034
|
NM_000094.4(COL7A1):c.1358-10T>C
|
rs200022744
|
0.00032
|
NM_000094.4(COL7A1):c.2993-13C>G
|
rs371738291
|
0.00032
|
NM_000094.4(COL7A1):c.2679G>A (p.Ala893=)
|
rs374261595
|
0.00031
|
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His)
|
rs146934952
|
0.00031
|
NM_000094.4(COL7A1):c.6400C>T (p.Pro2134Ser)
|
rs148638156
|
0.00031
|
NM_000094.4(COL7A1):c.6936+8T>C
|
rs374882140
|
0.00030
|
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile)
|
rs142568125
|
0.00030
|
NM_000094.4(COL7A1):c.7825A>G (p.Ile2609Val)
|
rs201839881
|
0.00029
|
NM_000094.4(COL7A1):c.8047-4C>T
|
rs185429200
|
0.00029
|
NM_000094.4(COL7A1):c.7212G>A (p.Gly2404=)
|
rs147925598
|
0.00028
|
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys)
|
rs139434755
|
0.00026
|
NM_000094.4(COL7A1):c.2997G>A (p.Val999=)
|
rs369633742
|
0.00026
|
NM_000094.4(COL7A1):c.3991C>T (p.Pro1331Ser)
|
rs139935808
|
0.00026
|
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)
|
rs142059751
|
0.00026
|
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met)
|
rs376090628
|
0.00025
|
NM_000094.4(COL7A1):c.3277-7A>G
|
rs376192100
|
0.00025
|
NM_000094.4(COL7A1):c.1857A>G (p.Gly619=)
|
rs145812249
|
0.00024
|
NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys)
|
rs199819125
|
0.00024
|
NM_000094.4(COL7A1):c.2371G>A (p.Val791Ile)
|
rs113483524
|
0.00023
|
NM_000094.4(COL7A1):c.393C>T (p.Phe131=)
|
rs142476373
|
0.00022
|
NM_000094.4(COL7A1):c.6714+18G>C
|
rs367618947
|
0.00022
|
NM_000094.4(COL7A1):c.1241-4G>A
|
rs201605314
|
0.00021
|
NM_000094.4(COL7A1):c.923T>C (p.Ile308Thr)
|
rs145738101
|
0.00021
|
NM_000094.4(COL7A1):c.1043G>A (p.Arg348Gln)
|
rs200570283
|
0.00020
|
NM_000094.4(COL7A1):c.3107G>A (p.Arg1036Gln)
|
rs150873722
|
0.00020
|
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)
|
rs145068043
|
0.00020
|
NM_000094.4(COL7A1):c.5271+14T>G
|
rs753359881
|
0.00020
|
NM_000094.4(COL7A1):c.5737-15C>A
|
rs371977017
|
0.00019
|
NM_000094.4(COL7A1):c.7422T>C (p.Arg2474=)
|
rs146250538
|
0.00019
|
NM_000094.4(COL7A1):c.7758+10G>A
|
rs371927547
|
0.00019
|
NM_000094.4(COL7A1):c.1495G>A (p.Val499Met)
|
rs201877942
|
0.00018
|
NM_000094.4(COL7A1):c.2146A>G (p.Arg716Gly)
|
rs143040168
|
0.00018
|
NM_000094.4(COL7A1):c.2622C>T (p.His874=)
|
rs368634417
|
0.00018
|
NM_000094.4(COL7A1):c.3038A>T (p.Gln1013Leu)
|
rs534667037
|
0.00017
|
NM_000094.4(COL7A1):c.7615-6A>T
|
rs777157837
|
0.00017
|
NM_000094.4(COL7A1):c.4401+7G>A
|
rs777149309
|
0.00016
|
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
|
rs143352280
|
0.00016
|
NM_000094.4(COL7A1):c.7416C>T (p.Gly2472=)
|
rs142651194
|
0.00016
|
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu)
|
rs200138839
|
0.00016
|
NM_000094.4(COL7A1):c.2662G>C (p.Glu888Gln)
|
rs200523730
|
0.00015
|
NM_000094.4(COL7A1):c.3724-6C>T
|
rs370390884
|
0.00015
|
NM_000094.4(COL7A1):c.3816C>T (p.Gly1272=)
|
rs138190232
|
0.00015
|
NM_000094.4(COL7A1):c.5385G>A (p.Pro1795=)
|
rs780121797
|
0.00015
|
NM_000094.4(COL7A1):c.59G>C (p.Arg20Pro)
|
rs755340663
|
0.00015
|
NM_000094.4(COL7A1):c.6312T>G (p.Ser2104=)
|
rs142907473
|
0.00015
|
NM_000094.4(COL7A1):c.7929+17G>A
|
rs377368133
|
0.00015
|
NM_000094.4(COL7A1):c.1813C>T (p.Arg605Trp)
|
rs371731645
|
0.00014
|
NM_000094.4(COL7A1):c.3840C>T (p.Thr1280=)
|
rs369839378
|
0.00014
|
NM_000094.4(COL7A1):c.4342-17G>A
|
rs367620031
|
0.00014
|
NM_000094.4(COL7A1):c.4723-15T>C
|
rs557458383
|
0.00014
|
NM_000094.4(COL7A1):c.5052+15A>G
|
rs377568216
|
0.00014
|
NM_000094.4(COL7A1):c.7217C>T (p.Pro2406Leu)
|
rs144788938
|
0.00014
|
NM_000094.4(COL7A1):c.7614+15G>A
|
rs201152116
|
0.00014
|
NM_000094.4(COL7A1):c.2208G>A (p.Thr736=)
|
rs759349429
|
0.00013
|
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=)
|
rs144756110
|
0.00013
|
NM_000094.4(COL7A1):c.8359-17T>A
|
rs200207978
|
0.00013
|
NM_000094.4(COL7A1):c.2796G>C (p.Val932=)
|
rs371141853
|
0.00012
|
NM_000094.4(COL7A1):c.5271+8A>G
|
rs369192298
|
0.00012
|
NM_000094.4(COL7A1):c.1910C>T (p.Pro637Leu)
|
rs199967174
|
0.00011
|
NM_000094.4(COL7A1):c.3232C>T (p.Arg1078Cys)
|
rs149154108
|
0.00011
|
NM_000094.4(COL7A1):c.3760-10C>G
|
rs200169440
|
0.00011
|
NM_000094.4(COL7A1):c.4069G>A (p.Gly1357Arg)
|
rs200741847
|
0.00011
|
NM_000094.4(COL7A1):c.4482+17G>T
|
rs190749884
|
0.00011
|
NM_000094.4(COL7A1):c.4859G>A (p.Arg1620Gln)
|
rs373682717
|
0.00011
|
NM_000094.4(COL7A1):c.4889G>A (p.Arg1630Gln)
|
rs201196696
|
0.00011
|
NM_000094.4(COL7A1):c.945C>T (p.Ile315=)
|
rs761431565
|
0.00011
|
NM_000094.4(COL7A1):c.2392G>A (p.Gly798Arg)
|
rs202237834
|
0.00010
|
NM_000094.4(COL7A1):c.2969G>A (p.Arg990Gln)
|
rs568498471
|
0.00010
|
NM_000094.4(COL7A1):c.4118C>T (p.Ser1373Leu)
|
rs140403507
|
0.00010
|
NM_000094.4(COL7A1):c.4485C>T (p.Gly1495=)
|
rs367958901
|
0.00010
|
NM_000094.4(COL7A1):c.4923C>T (p.Asp1641=)
|
rs202165842
|
0.00010
|
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp)
|
rs147285396
|
0.00010
|
NM_000094.4(COL7A1):c.520+9C>T
|
rs368959634
|
0.00010
|
NM_000094.4(COL7A1):c.5307+17G>A
|
rs374106939
|
0.00010
|
NM_000094.4(COL7A1):c.543G>A (p.Glu181=)
|
rs372458548
|
0.00010
|
NM_000094.4(COL7A1):c.8095G>A (p.Glu2699Lys)
|
rs200938473
|
0.00010
|
NM_000094.4(COL7A1):c.2072C>T (p.Thr691Met)
|
rs771007419
|
0.00009
|
NM_000094.4(COL7A1):c.2742C>T (p.Pro914=)
|
rs140193653
|
0.00009
|
NM_000094.4(COL7A1):c.3343G>C (p.Gly1115Arg)
|
rs200235451
|
0.00009
|
NM_000094.4(COL7A1):c.3403+11C>T
|
rs201645359
|
0.00009
|
NM_000094.4(COL7A1):c.3432C>T (p.Tyr1144=)
|
rs199679633
|
0.00009
|
NM_000094.4(COL7A1):c.4135C>T (p.Arg1379Cys)
|
rs200802373
|
0.00009
|
NM_000094.4(COL7A1):c.5548C>T (p.Pro1850Ser)
|
rs761604061
|
0.00009
|
NM_000094.4(COL7A1):c.5605-15C>T
|
rs200309694
|
0.00009
|
NM_000094.4(COL7A1):c.5701-9G>A
|
rs765799373
|
0.00009
|
NM_000094.4(COL7A1):c.6394-9T>C
|
rs374698863
|
0.00009
|
NM_000094.4(COL7A1):c.6572C>T (p.Pro2191Leu)
|
rs140543032
|
0.00009
|
NM_000094.4(COL7A1):c.8037C>T (p.Ile2679=)
|
rs112974441
|
0.00009
|
NM_000094.4(COL7A1):c.1242C>T (p.Asp414=)
|
rs373138319
|
0.00008
|
NM_000094.4(COL7A1):c.1604C>A (p.Thr535Asn)
|
rs200868430
|
0.00008
|
NM_000094.4(COL7A1):c.3550+14T>A
|
rs756995907
|
0.00008
|
NM_000094.4(COL7A1):c.3937G>A (p.Ala1313Thr)
|
rs778191454
|
0.00008
|
NM_000094.4(COL7A1):c.4047+10G>T
|
rs201581816
|
0.00008
|
NM_000094.4(COL7A1):c.4198-16G>A
|
rs370515794
|
0.00008
|
NM_000094.4(COL7A1):c.4438-18C>G
|
rs754648569
|
0.00008
|
NM_000094.4(COL7A1):c.4783-6C>T
|
rs761361407
|
0.00008
|
NM_000094.4(COL7A1):c.4944G>A (p.Pro1648=)
|
rs111360822
|
0.00008
|
NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg)
|
rs143037856
|
0.00008
|
NM_000094.4(COL7A1):c.5726C>T (p.Thr1909Met)
|
rs201719223
|
0.00008
|
NM_000094.4(COL7A1):c.653C>T (p.Thr218Ile)
|
rs202113569
|
0.00008
|
NM_000094.4(COL7A1):c.7037G>A (p.Arg2346His)
|
rs201432371
|
0.00008
|
NM_000094.4(COL7A1):c.7380+8G>A
|
rs560853464
|
0.00008
|
NM_000094.4(COL7A1):c.8238T>C (p.Gly2746=)
|
rs761159131
|
0.00008
|
NM_000094.4(COL7A1):c.8779C>T (p.Arg2927Cys)
|
rs150635097
|
0.00008
|
NM_000094.4(COL7A1):c.1268C>T (p.Pro423Leu)
|
rs147947287
|
0.00007
|
NM_000094.4(COL7A1):c.1507+10C>T
|
rs537188035
|
0.00007
|
NM_000094.4(COL7A1):c.1636+12G>A
|
rs368664530
|
0.00007
|
NM_000094.4(COL7A1):c.2340G>A (p.Ser780=)
|
rs747814933
|
0.00007
|
NM_000094.4(COL7A1):c.4000C>T (p.Arg1334Cys)
|
rs141720633
|
0.00007
|
NM_000094.4(COL7A1):c.6435G>A (p.Pro2145=)
|
rs143458723
|
0.00007
|
NM_000094.4(COL7A1):c.8527+8C>G
|
rs542807792
|
0.00007
|
NM_000094.4(COL7A1):c.960C>T (p.Ser320=)
|
rs141801873
|
0.00007
|
NM_000094.4(COL7A1):c.1070G>A (p.Arg357His)
|
rs368155479
|
0.00006
|
NM_000094.4(COL7A1):c.1325G>A (p.Arg442His)
|
rs146415546
|
0.00006
|
NM_000094.4(COL7A1):c.1721G>A (p.Arg574Gln)
|
rs201557549
|
0.00006
|
NM_000094.4(COL7A1):c.177C>G (p.Ser59Arg)
|
rs200674956
|
0.00006
|
NM_000094.4(COL7A1):c.2431C>T (p.Arg811Trp)
|
rs551951844
|
0.00006
|
NM_000094.4(COL7A1):c.30C>T (p.Leu10=)
|
rs376832250
|
0.00006
|
NM_000094.4(COL7A1):c.3612G>A (p.Ala1204=)
|
rs762604188
|
0.00006
|
NM_000094.4(COL7A1):c.3831+20G>C
|
rs376299120
|
0.00006
|
NM_000094.4(COL7A1):c.4210G>A (p.Asp1404Asn)
|
rs146659822
|
0.00006
|
NM_000094.4(COL7A1):c.4287C>T (p.Pro1429=)
|
rs749814590
|
0.00006
|
NM_000094.4(COL7A1):c.447C>T (p.Asp149=)
|
rs372585819
|
0.00006
|
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=)
|
rs142686837
|
0.00006
|
NM_000094.4(COL7A1):c.4666A>G (p.Lys1556Glu)
|
rs777472432
|
0.00006
|
NM_000094.4(COL7A1):c.4719A>G (p.Glu1573=)
|
rs558405095
|
0.00006
|
NM_000094.4(COL7A1):c.4819-16C>G
|
rs546132302
|
0.00006
|
NM_000094.4(COL7A1):c.5368G>A (p.Ala1790Thr)
|
rs780506505
|
0.00006
|
NM_000094.4(COL7A1):c.5608C>T (p.Arg1870Cys)
|
rs145782204
|
0.00006
|
NM_000094.4(COL7A1):c.5736+8C>T
|
rs748842408
|
0.00006
|
NM_000094.4(COL7A1):c.5826G>C (p.Val1942=)
|
rs751902809
|
0.00006
|
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=)
|
rs779298653
|
0.00006
|
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala)
|
rs372838887
|
0.00006
|
NM_000094.4(COL7A1):c.682+18C>T
|
rs774430763
|
0.00006
|
NM_000094.4(COL7A1):c.761C>T (p.Ala254Val)
|
rs201916805
|
0.00006
|
NM_000094.4(COL7A1):c.8064C>T (p.Asp2688=)
|
rs546054756
|
0.00006
|
NM_000094.4(COL7A1):c.8157C>T (p.Gly2719=)
|
rs766562767
|
0.00006
|
NM_000094.4(COL7A1):c.8322C>T (p.Ala2774=)
|
rs142948995
|
0.00006
|
NM_000094.4(COL7A1):c.8819-3C>T
|
rs148536949
|
0.00006
|
NM_000094.4(COL7A1):c.893G>A (p.Arg298Gln)
|
rs200892831
|
0.00006
|
NM_000094.4(COL7A1):c.1062T>C (p.Thr354=)
|
rs201697063
|
0.00005
|
NM_000094.4(COL7A1):c.1345C>T (p.Arg449Trp)
|
rs371991224
|
0.00005
|
NM_000094.4(COL7A1):c.1402C>T (p.Arg468Cys)
|
rs371154736
|
0.00005
|
NM_000094.4(COL7A1):c.1428G>A (p.Pro476=)
|
rs138330564
|
0.00005
|
NM_000094.4(COL7A1):c.3277-8C>T
|
rs759123550
|
0.00005
|
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=)
|
rs146903823
|
0.00005
|
NM_000094.4(COL7A1):c.4012-9C>T
|
rs763087515
|
0.00005
|
NM_000094.4(COL7A1):c.5384C>T (p.Pro1795Leu)
|
rs746987799
|
0.00005
|
NM_000094.4(COL7A1):c.5533-10C>G
|
rs201264274
|
0.00005
|
NM_000094.4(COL7A1):c.7050C>T (p.Pro2350=)
|
rs773855741
|
0.00005
|
NM_000094.4(COL7A1):c.7095A>G (p.Lys2365=)
|
rs748904295
|
0.00005
|
NM_000094.4(COL7A1):c.7956C>T (p.Pro2652=)
|
rs368225541
|
0.00005
|
NM_000094.4(COL7A1):c.8202C>T (p.Gly2734=)
|
rs200292228
|
0.00005
|
NM_000094.4(COL7A1):c.8226+13A>G
|
rs777970970
|
0.00005
|
NM_000094.4(COL7A1):c.8427C>T (p.Ile2809=)
|
rs779725201
|
0.00005
|
NM_000094.4(COL7A1):c.8428G>A (p.Ala2810Thr)
|
rs143995717
|
0.00005
|
NM_000094.4(COL7A1):c.8502C>G (p.Leu2834=)
|
rs201339290
|
0.00005
|
NM_000094.4(COL7A1):c.1167G>A (p.Thr389=)
|
rs377732069
|
0.00004
|
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys)
|
rs142108058
|
0.00004
|
NM_000094.4(COL7A1):c.1468G>A (p.Gly490Ser)
|
rs143372872
|
0.00004
|
NM_000094.4(COL7A1):c.1473C>T (p.His491=)
|
rs201847088
|
0.00004
|
NM_000094.4(COL7A1):c.1625G>A (p.Arg542His)
|
rs143991798
|
0.00004
|
NM_000094.4(COL7A1):c.1907-9T>C
|
rs377478394
|
0.00004
|
NM_000094.4(COL7A1):c.2503G>A (p.Glu835Lys)
|
rs748398314
|
0.00004
|
NM_000094.4(COL7A1):c.2589G>A (p.Pro863=)
|
rs200172845
|
0.00004
|
NM_000094.4(COL7A1):c.3063C>T (p.Gly1021=)
|
rs139371408
|
0.00004
|
NM_000094.4(COL7A1):c.3203G>A (p.Arg1068His)
|
rs753761607
|
0.00004
|
NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=)
|
rs548139799
|
0.00004
|
NM_000094.4(COL7A1):c.3555T>G (p.Leu1185=)
|
rs769937344
|
0.00004
|
NM_000094.4(COL7A1):c.3585G>A (p.Ala1195=)
|
rs374921696
|
0.00004
|
NM_000094.4(COL7A1):c.3894+18C>T
|
rs200998167
|
0.00004
|
NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His)
|
rs558424479
|
0.00004
|
NM_000094.4(COL7A1):c.3932G>C (p.Gly1311Ala)
|
rs746075630
|
0.00004
|
NM_000094.4(COL7A1):c.4012-8G>A
|
rs773379113
|
0.00004
|
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser)
|
rs200290149
|
0.00004
|
NM_000094.4(COL7A1):c.4191C>T (p.Ala1397=)
|
rs112479160
|
0.00004
|
NM_000094.4(COL7A1):c.4225-9C>G
|
rs373161985
|
0.00004
|
NM_000094.4(COL7A1):c.4274T>C (p.Leu1425Pro)
|
rs745975162
|
0.00004
|
NM_000094.4(COL7A1):c.4279-4C>T
|
rs759793762
|
0.00004
|
NM_000094.4(COL7A1):c.4311C>T (p.Pro1437=)
|
rs745456830
|
0.00004
|
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln)
|
rs570707807
|
0.00004
|
NM_000094.4(COL7A1):c.4509G>A (p.Ala1503=)
|
rs748294033
|
0.00004
|
NM_000094.4(COL7A1):c.4564-7C>T
|
rs367590054
|
0.00004
|
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=)
|
rs573530168
|
0.00004
|
NM_000094.4(COL7A1):c.4782+19G>T
|
rs375198612
|
0.00004
|
NM_000094.4(COL7A1):c.4935+9C>G
|
rs1051598364
|
0.00004
|
NM_000094.4(COL7A1):c.4979G>C (p.Arg1660Pro)
|
rs373152375
|
0.00004
|
NM_000094.4(COL7A1):c.5132C>T (p.Thr1711Ile)
|
rs771521596
|
0.00004
|
NM_000094.4(COL7A1):c.5736+9G>A
|
rs777097228
|
0.00004
|
NM_000094.4(COL7A1):c.5772+10C>T
|
rs368195728
|
0.00004
|
NM_000094.4(COL7A1):c.5857-11C>T
|
rs201825506
|
0.00004
|
NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys)
|
rs765130674
|
0.00004
|
NM_000094.4(COL7A1):c.6216+9C>T
|
rs200855943
|
0.00004
|
NM_000094.4(COL7A1):c.6432A>G (p.Gly2144=)
|
rs765527332
|
0.00004
|
NM_000094.4(COL7A1):c.663C>T (p.Gly221=)
|
rs367607652
|
0.00004
|
NM_000094.4(COL7A1):c.6744A>G (p.Gly2248=)
|
rs777395967
|
0.00004
|
NM_000094.4(COL7A1):c.675C>T (p.Thr225=)
|
rs756726621
|
0.00004
|
NM_000094.4(COL7A1):c.6768G>A (p.Pro2256=)
|
rs776048822
|
0.00004
|
NM_000094.4(COL7A1):c.6995G>A (p.Arg2332Gln)
|
rs199907664
|
0.00004
|
NM_000094.4(COL7A1):c.7127C>T (p.Pro2376Leu)
|
rs150193295
|
0.00004
|
NM_000094.4(COL7A1):c.7293G>A (p.Gly2431=)
|
rs1390775348
|
0.00004
|
NM_000094.4(COL7A1):c.7381-13T>C
|
rs199974050
|
0.00004
|
NM_000094.4(COL7A1):c.7485+10G>A
|
rs773906373
|
0.00004
|
NM_000094.4(COL7A1):c.7521+8C>T
|
rs773052563
|
0.00004
|
NM_000094.4(COL7A1):c.7656T>G (p.Pro2552=)
|
rs573229455
|
0.00004
|
NM_000094.4(COL7A1):c.7722C>T (p.Ala2574=)
|
rs141873874
|
0.00004
|
NM_000094.4(COL7A1):c.7746C>A (p.Leu2582=)
|
rs567022011
|
0.00004
|
NM_000094.4(COL7A1):c.8000C>T (p.Pro2667Leu)
|
rs377015274
|
0.00004
|
NM_000094.4(COL7A1):c.8177C>T (p.Pro2726Leu)
|
rs372495014
|
0.00004
|
NM_000094.4(COL7A1):c.8247A>G (p.Gly2749=)
|
rs752848483
|
0.00004
|
NM_000094.4(COL7A1):c.8290G>A (p.Glu2764Lys)
|
rs141883531
|
0.00004
|
NM_000094.4(COL7A1):c.8418C>A (p.Gly2806=)
|
rs150945887
|
0.00004
|
NM_000094.4(COL7A1):c.903C>T (p.Thr301=)
|
rs369040036
|
0.00004
|
NM_000094.4(COL7A1):c.96G>A (p.Thr32=)
|
rs373757759
|
0.00004
|
NM_000094.4(COL7A1):c.1023C>T (p.His341=)
|
rs763849346
|
0.00003
|
NM_000094.4(COL7A1):c.1094-6A>G
|
rs757717493
|
0.00003
|
NM_000094.4(COL7A1):c.1186A>T (p.Ser396Cys)
|
rs202192755
|
0.00003
|
NM_000094.4(COL7A1):c.1200C>T (p.Gly400=)
|
rs770049663
|
0.00003
|
NM_000094.4(COL7A1):c.1241-10C>T
|
rs751800539
|
0.00003
|
NM_000094.4(COL7A1):c.1357+8C>T
|
rs368098361
|
0.00003
|
NM_000094.4(COL7A1):c.1370C>T (p.Pro457Leu)
|
rs200396882
|
0.00003
|
NM_000094.4(COL7A1):c.172C>T (p.Arg58Cys)
|
rs780696923
|
0.00003
|
NM_000094.4(COL7A1):c.1838G>A (p.Arg613Gln)
|
rs774927826
|
0.00003
|
NM_000094.4(COL7A1):c.1861G>A (p.Val621Ile)
|
rs143391124
|
0.00003
|
NM_000094.4(COL7A1):c.1865C>A (p.Pro622His)
|
rs137942494
|
0.00003
|
NM_000094.4(COL7A1):c.1936G>C (p.Asp646His)
|
rs765663530
|
0.00003
|
NM_000094.4(COL7A1):c.2045G>A (p.Arg682Gln)
|
rs772900092
|
0.00003
|
NM_000094.4(COL7A1):c.2100A>C (p.Ser700=)
|
rs756201098
|
0.00003
|
NM_000094.4(COL7A1):c.2121C>T (p.Thr707=)
|
rs763486900
|
0.00003
|
NM_000094.4(COL7A1):c.2907C>T (p.Ile969=)
|
rs185999235
|
0.00003
|
NM_000094.4(COL7A1):c.2934A>C (p.Pro978=)
|
rs748311145
|
0.00003
|
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile)
|
rs562548943
|
0.00003
|
NM_000094.4(COL7A1):c.3149G>A (p.Arg1050His)
|
rs759485933
|
0.00003
|
NM_000094.4(COL7A1):c.3213T>C (p.Ala1071=)
|
rs774363321
|
0.00003
|
NM_000094.4(COL7A1):c.3414G>A (p.Val1138=)
|
rs181590433
|
0.00003
|
NM_000094.4(COL7A1):c.3584C>T (p.Ala1195Val)
|
rs552219889
|
0.00003
|
NM_000094.4(COL7A1):c.3714C>T (p.Phe1238=)
|
rs1380863838
|
0.00003
|
NM_000094.4(COL7A1):c.3747G>A (p.Val1249=)
|
rs576939993
|
0.00003
|
NM_000094.4(COL7A1):c.3807G>A (p.Gly1269=)
|
rs777547951
|
0.00003
|
NM_000094.4(COL7A1):c.3999T>C (p.Pro1333=)
|
rs756134134
|
0.00003
|
NM_000094.4(COL7A1):c.4120-11T>C
|
rs370085598
|
0.00003
|
NM_000094.4(COL7A1):c.4120-18C>T
|
rs771508110
|
0.00003
|
NM_000094.4(COL7A1):c.4398G>A (p.Glu1466=)
|
rs762257078
|
0.00003
|
NM_000094.4(COL7A1):c.4483-20G>T
|
rs774978554
|
0.00003
|
NM_000094.4(COL7A1):c.4519-13T>A
|
rs768807182
|
0.00003
|
NM_000094.4(COL7A1):c.4635+20C>T
|
rs374833715
|
0.00003
|
NM_000094.4(COL7A1):c.4782+9A>T
|
rs369635501
|
0.00003
|
NM_000094.4(COL7A1):c.4899+16C>T
|
rs199612012
|
0.00003
|
NM_000094.4(COL7A1):c.540T>A (p.Pro180=)
|
rs1473537751
|
0.00003
|
NM_000094.4(COL7A1):c.5577A>G (p.Lys1859=)
|
rs778146776
|
0.00003
|
NM_000094.4(COL7A1):c.5598G>A (p.Gly1866=)
|
rs765176554
|
0.00003
|
NM_000094.4(COL7A1):c.5605-14T>C
|
rs749961187
|
0.00003
|
NM_000094.4(COL7A1):c.5772+11C>T
|
rs375161918
|
0.00003
|
NM_000094.4(COL7A1):c.5772+7C>T
|
rs758184707
|
0.00003
|
NM_000094.4(COL7A1):c.5850C>A (p.Gly1950=)
|
rs767379643
|
0.00003
|
NM_000094.4(COL7A1):c.6188G>A (p.Arg2063Gln)
|
rs2229825
|
0.00003
|
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=)
|
rs761393259
|
0.00003
|
NM_000094.4(COL7A1):c.6261C>T (p.Pro2087=)
|
rs761393259
|
0.00003
|
NM_000094.4(COL7A1):c.6273C>T (p.Gly2091=)
|
rs374325775
|
0.00003
|
NM_000094.4(COL7A1):c.638G>A (p.Arg213Gln)
|
rs62261469
|
0.00003
|
NM_000094.4(COL7A1):c.6497A>G (p.Lys2166Arg)
|
rs756368901
|
0.00003
|
NM_000094.4(COL7A1):c.6516A>G (p.Pro2172=)
|
rs1401423123
|
0.00003
|
NM_000094.4(COL7A1):c.6538-10G>A
|
rs747313983
|
0.00003
|
NM_000094.4(COL7A1):c.6538-5A>G
|
rs182043849
|
0.00003
|
NM_000094.4(COL7A1):c.6715-5G>A
|
rs565238443
|
0.00003
|
NM_000094.4(COL7A1):c.6723G>A (p.Gln2241=)
|
rs775756645
|
0.00003
|
NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala)
|
rs772457877
|
0.00003
|
NM_000094.4(COL7A1):c.6751-9C>T
|
rs753927066
|
0.00003
|
NM_000094.4(COL7A1):c.6978+8G>A
|
rs187312469
|
0.00003
|
NM_000094.4(COL7A1):c.7128G>A (p.Pro2376=)
|
rs776459582
|
0.00003
|
NM_000094.4(COL7A1):c.7344+14C>T
|
rs547674036
|
0.00003
|
NM_000094.4(COL7A1):c.7345-18C>T
|
rs200797171
|
0.00003
|
NM_000094.4(COL7A1):c.7474C>A (p.Arg2492=)
|
rs765529435
|
0.00003
|
NM_000094.4(COL7A1):c.7558-10G>A
|
rs774375374
|
0.00003
|
NM_000094.4(COL7A1):c.8226+8G>C
|
rs570837917
|
0.00003
|
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=)
|
rs763764765
|
0.00003
|
NM_000094.4(COL7A1):c.8408-15C>G
|
rs774368057
|
0.00003
|
NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=)
|
rs748854889
|
0.00003
|
NM_000094.4(COL7A1):c.86-4C>G
|
rs780404818
|
0.00003
|
NM_000094.4(COL7A1):c.8709C>T (p.Ala2903=)
|
rs140781372
|
0.00003
|
NM_000094.4(COL7A1):c.8783G>A (p.Arg2928His)
|
rs758740269
|
0.00003
|
NM_000094.4(COL7A1):c.1094-9C>T
|
rs779538291
|
0.00002
|
NM_000094.4(COL7A1):c.1212G>C (p.Gly404=)
|
rs778830448
|
0.00002
|
NM_000094.4(COL7A1):c.1358-12G>A
|
rs757349308
|
0.00002
|
NM_000094.4(COL7A1):c.1494C>T (p.Thr498=)
|
rs776229982
|
0.00002
|
NM_000094.4(COL7A1):c.1560C>T (p.Pro520=)
|
rs759275431
|
0.00002
|
NM_000094.4(COL7A1):c.1785G>A (p.Pro595=)
|
rs749549682
|
0.00002
|
NM_000094.4(COL7A1):c.1824G>A (p.Val608=)
|
rs763932586
|
0.00002
|
NM_000094.4(COL7A1):c.1860C>T (p.Pro620=)
|
rs369313576
|
0.00002
|
NM_000094.4(COL7A1):c.1995G>T (p.Val665=)
|
rs769808015
|
0.00002
|
NM_000094.4(COL7A1):c.2170+10G>C
|
rs371117425
|
0.00002
|
NM_000094.4(COL7A1):c.2249C>T (p.Thr750Met)
|
rs377763372
|
0.00002
|
NM_000094.4(COL7A1):c.2315-8G>T
|
rs760773288
|
0.00002
|
NM_000094.4(COL7A1):c.2376A>G (p.Leu792=)
|
rs754120044
|
0.00002
|
NM_000094.4(COL7A1):c.2502C>T (p.Leu834=)
|
rs1435865470
|
0.00002
|
NM_000094.4(COL7A1):c.2545G>A (p.Gly849Arg)
|
rs367797946
|
0.00002
|
NM_000094.4(COL7A1):c.2577T>C (p.Val859=)
|
rs747165097
|
0.00002
|
NM_000094.4(COL7A1):c.267-6C>T
|
rs1361765533
|
0.00002
|
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)
|
rs773201784
|
0.00002
|
NM_000094.4(COL7A1):c.2793C>A (p.Arg931=)
|
rs142681592
|
0.00002
|
NM_000094.4(COL7A1):c.3135G>A (p.Thr1045=)
|
rs775612520
|
0.00002
|
NM_000094.4(COL7A1):c.3182C>T (p.Ala1061Val)
|
rs553468091
|
0.00002
|
NM_000094.4(COL7A1):c.3240G>A (p.Val1080=)
|
rs771660179
|
0.00002
|
NM_000094.4(COL7A1):c.3264A>G (p.Pro1088=)
|
rs777639695
|
0.00002
|
NM_000094.4(COL7A1):c.3321A>G (p.Pro1107=)
|
rs754738046
|
0.00002
|
NM_000094.4(COL7A1):c.3403+12A>G
|
rs1422622927
|
0.00002
|
NM_000094.4(COL7A1):c.3441A>G (p.Ala1147=)
|
rs757434867
|
0.00002
|
NM_000094.4(COL7A1):c.3469G>A (p.Val1157Ile)
|
rs750102430
|
0.00002
|
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val)
|
rs546776797
|
0.00002
|
NM_000094.4(COL7A1):c.3732A>G (p.Pro1244=)
|
rs148061950
|
0.00002
|
NM_000094.4(COL7A1):c.3753T>C (p.Cys1251=)
|
rs764349883
|
0.00002
|
NM_000094.4(COL7A1):c.3786+18C>T
|
rs371113036
|
0.00002
|
NM_000094.4(COL7A1):c.3786+19G>A
|
rs751568299
|
0.00002
|
NM_000094.4(COL7A1):c.3849C>T (p.Pro1283=)
|
rs754296949
|
0.00002
|
NM_000094.4(COL7A1):c.4056C>T (p.Pro1352=)
|
rs369136008
|
0.00002
|
NM_000094.4(COL7A1):c.4120-7C>T
|
rs908605682
|
0.00002
|
NM_000094.4(COL7A1):c.4150G>A (p.Asp1384Asn)
|
rs767030806
|
0.00002
|
NM_000094.4(COL7A1):c.4518+7C>T
|
rs377114408
|
0.00002
|
NM_000094.4(COL7A1):c.4600-9T>C
|
rs894344282
|
0.00002
|
NM_000094.4(COL7A1):c.4635+9C>T
|
rs372309313
|
0.00002
|
NM_000094.4(COL7A1):c.4636-9T>C
|
rs760840151
|
0.00002
|
NM_000094.4(COL7A1):c.4665A>G (p.Glu1555=)
|
rs1443190334
|
0.00002
|
NM_000094.4(COL7A1):c.477T>C (p.Ala159=)
|
rs910778254
|
0.00002
|
NM_000094.4(COL7A1):c.4782+20G>C
|
rs758603777
|
0.00002
|
NM_000094.4(COL7A1):c.4936-4C>A
|
rs370507375
|
0.00002
|
NM_000094.4(COL7A1):c.4981-9T>C
|
rs746536715
|
0.00002
|
NM_000094.4(COL7A1):c.5115G>A (p.Pro1705=)
|
rs773068815
|
0.00002
|
NM_000094.4(COL7A1):c.5124+11C>T
|
rs531073499
|
0.00002
|
NM_000094.4(COL7A1):c.5181G>A (p.Glu1727=)
|
rs1359479622
|
0.00002
|
NM_000094.4(COL7A1):c.521-10G>A
|
rs1412834173
|
0.00002
|
NM_000094.4(COL7A1):c.5280A>G (p.Pro1760=)
|
rs766709076
|
0.00002
|
NM_000094.4(COL7A1):c.5388+14G>A
|
rs1490246226
|
0.00002
|
NM_000094.4(COL7A1):c.540T>C (p.Pro180=)
|
rs1473537751
|
0.00002
|
NM_000094.4(COL7A1):c.5427G>A (p.Gly1809=)
|
rs770678998
|
0.00002
|
NM_000094.4(COL7A1):c.5532+8T>C
|
rs1321882939
|
0.00002
|
NM_000094.4(COL7A1):c.5701-10C>T
|
rs1471404340
|
0.00002
|
NM_000094.4(COL7A1):c.5771A>T (p.Gln1924Leu)
|
rs746824716
|
0.00002
|
NM_000094.4(COL7A1):c.5927G>A (p.Arg1976Gln)
|
rs982433923
|
0.00002
|
NM_000094.4(COL7A1):c.5951C>T (p.Ser1984Leu)
|
rs200551525
|
0.00002
|
NM_000094.4(COL7A1):c.6045G>A (p.Gly2015=)
|
rs934784670
|
0.00002
|
NM_000094.4(COL7A1):c.6171A>C (p.Pro2057=)
|
rs763064296
|
0.00002
|
NM_000094.4(COL7A1):c.6217-5T>C
|
rs756435479
|
0.00002
|
NM_000094.4(COL7A1):c.6246A>G (p.Gly2082=)
|
rs764887617
|
0.00002
|
NM_000094.4(COL7A1):c.6419G>A (p.Arg2140Gln)
|
rs758217227
|
0.00002
|
NM_000094.4(COL7A1):c.6831+16G>A
|
rs768191117
|
0.00002
|
NM_000094.4(COL7A1):c.6858C>T (p.Val2286=)
|
rs745766922
|
0.00002
|
NM_000094.4(COL7A1):c.6901-16C>T
|
rs566261713
|
0.00002
|
NM_000094.4(COL7A1):c.7196C>T (p.Ala2399Val)
|
rs751885031
|
0.00002
|
NM_000094.4(COL7A1):c.7458C>T (p.Pro2486=)
|
rs766547317
|
0.00002
|
NM_000094.4(COL7A1):c.7521+9G>A
|
rs769808777
|
0.00002
|
NM_000094.4(COL7A1):c.7558-8C>T
|
rs1052633696
|
0.00002
|
NM_000094.4(COL7A1):c.7686+20G>A
|
rs374295297
|
0.00002
|
NM_000094.4(COL7A1):c.7920G>A (p.Lys2640=)
|
rs780249495
|
0.00002
|
NM_000094.4(COL7A1):c.7929+11G>T
|
rs369481509
|
0.00002
|
NM_000094.4(COL7A1):c.7929+23G>C
|
rs751144324
|
0.00002
|
NM_000094.4(COL7A1):c.8016C>A (p.Ala2672=)
|
rs748676695
|
0.00002
|
NM_000094.4(COL7A1):c.8205C>T (p.Pro2735=)
|
rs535006469
|
0.00002
|
NM_000094.4(COL7A1):c.8227-9G>A
|
rs766585624
|
0.00002
|
NM_000094.4(COL7A1):c.8241C>T (p.Pro2747=)
|
rs778839465
|
0.00002
|
NM_000094.4(COL7A1):c.8407+10G>A
|
rs754593655
|
0.00002
|
NM_000094.4(COL7A1):c.8514T>C (p.His2838=)
|
rs781022857
|
0.00002
|
NM_000094.4(COL7A1):c.852C>T (p.Asn284=)
|
rs765324289
|
0.00002
|
NM_000094.4(COL7A1):c.86-8C>T
|
rs1012398135
|
0.00002
|
NM_000094.4(COL7A1):c.8661C>T (p.Ala2887=)
|
rs373940098
|
0.00002
|
NM_000094.4(COL7A1):c.8819-6C>T
|
rs201658800
|
0.00002
|
NM_000094.4(COL7A1):c.972G>T (p.Arg324=)
|
rs147924718
|
0.00002
|
NM_000094.4(COL7A1):c.1035G>A (p.Val345=)
|
rs139789951
|
0.00001
|
NM_000094.4(COL7A1):c.1069C>T (p.Arg357Cys)
|
rs146041612
|
0.00001
|
NM_000094.4(COL7A1):c.1093+9G>C
|
rs1242637293
|
0.00001
|
NM_000094.4(COL7A1):c.1094-4G>A
|
rs1406158368
|
0.00001
|
NM_000094.4(COL7A1):c.1144C>T (p.Leu382=)
|
rs1266119766
|
0.00001
|
NM_000094.4(COL7A1):c.1155G>A (p.Leu385=)
|
rs1262257251
|
0.00001
|
NM_000094.4(COL7A1):c.1179G>C (p.Val393=)
|
rs1401785974
|
0.00001
|
NM_000094.4(COL7A1):c.1182C>T (p.Thr394=)
|
rs1171155934
|
0.00001
|
NM_000094.4(COL7A1):c.124T>C (p.Leu42=)
|
rs762008458
|
0.00001
|
NM_000094.4(COL7A1):c.1260C>T (p.Thr420=)
|
rs1212593883
|
0.00001
|
NM_000094.4(COL7A1):c.1261C>T (p.Leu421=)
|
rs770443613
|
0.00001
|
NM_000094.4(COL7A1):c.1296C>T (p.Leu432=)
|
rs369829451
|
0.00001
|
NM_000094.4(COL7A1):c.12G>A (p.Arg4=)
|
rs1270204950
|
0.00001
|
NM_000094.4(COL7A1):c.1357+9G>A
|
rs781260864
|
0.00001
|
NM_000094.4(COL7A1):c.1360T>C (p.Leu454=)
|
rs753011870
|
0.00001
|
NM_000094.4(COL7A1):c.1368A>C (p.Pro456=)
|
rs767902653
|
0.00001
|
NM_000094.4(COL7A1):c.1371G>A (p.Pro457=)
|
rs1381760157
|
0.00001
|
NM_000094.4(COL7A1):c.1403G>A (p.Arg468His)
|
rs768672251
|
0.00001
|
NM_000094.4(COL7A1):c.1410G>A (p.Gln470=)
|
rs746820187
|
0.00001
|
NM_000094.4(COL7A1):c.1422G>A (p.Leu474=)
|
rs1474174215
|
0.00001
|
NM_000094.4(COL7A1):c.1508-19A>G
|
rs1181613276
|
0.00001
|
NM_000094.4(COL7A1):c.1508-5A>T
|
rs751909991
|
0.00001
|
NM_000094.4(COL7A1):c.1508-9C>T
|
rs755301783
|
0.00001
|
NM_000094.4(COL7A1):c.1551C>T (p.Thr517=)
|
rs199556963
|
0.00001
|
NM_000094.4(COL7A1):c.1636+11C>T
|
rs570706305
|
0.00001
|
NM_000094.4(COL7A1):c.1680C>T (p.Phe560=)
|
rs780823886
|
0.00001
|
NM_000094.4(COL7A1):c.1692C>T (p.Asp564=)
|
rs1271847669
|
0.00001
|
NM_000094.4(COL7A1):c.1720C>T (p.Arg574Trp)
|
rs200762860
|
0.00001
|
NM_000094.4(COL7A1):c.1774C>T (p.Arg592Cys)
|
rs147470888
|
0.00001
|
NM_000094.4(COL7A1):c.1781-19T>C
|
rs984392717
|
0.00001
|
NM_000094.4(COL7A1):c.1798G>C (p.Ala600Pro)
|
rs200629259
|
0.00001
|
NM_000094.4(COL7A1):c.189G>A (p.Gly63=)
|
rs751585207
|
0.00001
|
NM_000094.4(COL7A1):c.1907-12C>T
|
rs781589201
|
0.00001
|
NM_000094.4(COL7A1):c.1929G>A (p.Leu643=)
|
rs964417236
|
0.00001
|
NM_000094.4(COL7A1):c.1998G>A (p.Ser666=)
|
rs781170835
|
0.00001
|
NM_000094.4(COL7A1):c.2016G>C (p.Glu672Asp)
|
rs754341326
|
0.00001
|
NM_000094.4(COL7A1):c.2019G>A (p.Glu673=)
|
rs764505018
|
0.00001
|
NM_000094.4(COL7A1):c.2035A>G (p.Ile679Val)
|
rs751176402
|
0.00001
|
NM_000094.4(COL7A1):c.2037C>T (p.Ile679=)
|
rs1346527971
|
0.00001
|
NM_000094.4(COL7A1):c.2050+16C>T
|
rs749425003
|
0.00001
|
NM_000094.4(COL7A1):c.2073G>A (p.Thr691=)
|
rs749328156
|
0.00001
|
NM_000094.4(COL7A1):c.2124G>A (p.Arg708=)
|
rs760735053
|
0.00001
|
NM_000094.4(COL7A1):c.2133C>T (p.Gly711=)
|
rs934402491
|
0.00001
|
NM_000094.4(COL7A1):c.219T>C (p.Ser73=)
|
rs762065822
|
0.00001
|
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)
|
rs549271654
|
0.00001
|
NM_000094.4(COL7A1):c.2205C>T (p.Ala735=)
|
rs752688217
|
0.00001
|
NM_000094.4(COL7A1):c.2229G>A (p.Leu743=)
|
rs1233017546
|
0.00001
|
NM_000094.4(COL7A1):c.2301G>T (p.Val767=)
|
rs1169178898
|
0.00001
|
NM_000094.4(COL7A1):c.2314+10C>T
|
rs1182482791
|
0.00001
|
NM_000094.4(COL7A1):c.2315-10C>T
|
rs764284896
|
0.00001
|
NM_000094.4(COL7A1):c.2370C>T (p.Asp790=)
|
rs368234577
|
0.00001
|
NM_000094.4(COL7A1):c.2378G>A (p.Arg793Gln)
|
rs756289056
|
0.00001
|
NM_000094.4(COL7A1):c.2440+16G>A
|
rs745849456
|
0.00001
|
NM_000094.4(COL7A1):c.2441-4C>T
|
rs375549035
|
0.00001
|
NM_000094.4(COL7A1):c.2478A>C (p.Thr826=)
|
rs1379249770
|
0.00001
|
NM_000094.4(COL7A1):c.2557G>A (p.Gly853Ser)
|
rs773229775
|
0.00001
|
NM_000094.4(COL7A1):c.255C>T (p.Ser85=)
|
rs1250100354
|
0.00001
|
NM_000094.4(COL7A1):c.2565T>G (p.Pro855=)
|
rs2045468748
|
0.00001
|
NM_000094.4(COL7A1):c.2601G>A (p.Pro867=)
|
rs372604034
|
0.00001
|
NM_000094.4(COL7A1):c.2646G>A (p.Ser882=)
|
rs770229628
|
0.00001
|
NM_000094.4(COL7A1):c.2667G>A (p.Pro889=)
|
rs1319601204
|
0.00001
|
NM_000094.4(COL7A1):c.267-10C>T
|
rs1482531950
|
0.00001
|
NM_000094.4(COL7A1):c.267-9C>T
|
rs373564083
|
0.00001
|
NM_000094.4(COL7A1):c.2710+8G>C
|
rs1164250441
|
0.00001
|
NM_000094.4(COL7A1):c.2781G>A (p.Ala927=)
|
rs747561081
|
0.00001
|
NM_000094.4(COL7A1):c.2808C>T (p.Val936=)
|
rs1559424416
|
0.00001
|
NM_000094.4(COL7A1):c.2809C>T (p.Leu937=)
|
rs1490151134
|
0.00001
|
NM_000094.4(COL7A1):c.2820T>C (p.Ala940=)
|
rs1315662186
|
0.00001
|
NM_000094.4(COL7A1):c.2850G>A (p.Ala950=)
|
rs746958544
|
0.00001
|
NM_000094.4(COL7A1):c.2852G>A (p.Arg951His)
|
rs540205999
|
0.00001
|
NM_000094.4(COL7A1):c.2910C>T (p.Asp970=)
|
rs1242839120
|
0.00001
|
NM_000094.4(COL7A1):c.2964C>T (p.Ser988=)
|
rs1428185013
|
0.00001
|
NM_000094.4(COL7A1):c.2968C>T (p.Arg990Trp)
|
rs763751979
|
0.00001
|
NM_000094.4(COL7A1):c.3009G>A (p.Pro1003=)
|
rs1247318588
|
0.00001
|
NM_000094.4(COL7A1):c.3090T>G (p.Pro1030=)
|
rs550700704
|
0.00001
|
NM_000094.4(COL7A1):c.3111T>A (p.Gly1037=)
|
rs540313590
|
0.00001
|
NM_000094.4(COL7A1):c.3136C>A (p.Pro1046Thr)
|
rs374283870
|
0.00001
|
NM_000094.4(COL7A1):c.3139+7T>C
|
rs746399692
|
0.00001
|
NM_000094.4(COL7A1):c.3140-10C>T
|
rs757192859
|
0.00001
|
NM_000094.4(COL7A1):c.315C>T (p.Arg105=)
|
rs1344559190
|
0.00001
|
NM_000094.4(COL7A1):c.3174A>G (p.Leu1058=)
|
rs2045321670
|
0.00001
|
NM_000094.4(COL7A1):c.3216G>A (p.Thr1072=)
|
rs763386437
|
0.00001
|
NM_000094.4(COL7A1):c.3237G>A (p.Leu1079=)
|
rs777110195
|
0.00001
|
NM_000094.4(COL7A1):c.3369C>T (p.Asp1123=)
|
rs772768581
|
0.00001
|
NM_000094.4(COL7A1):c.3403+10G>A
|
rs1172719883
|
0.00001
|
NM_000094.4(COL7A1):c.3468C>T (p.His1156=)
|
rs755299317
|
0.00001
|
NM_000094.4(COL7A1):c.3642C>T (p.Phe1214=)
|
rs772510427
|
0.00001
|
NM_000094.4(COL7A1):c.3645C>T (p.Ala1215=)
|
rs746268085
|
0.00001
|
NM_000094.4(COL7A1):c.3673G>C (p.Ala1225Pro)
|
rs199679997
|
0.00001
|
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0.00001
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NM_000094.4(COL7A1):c.7581G>A (p.Gly2527=)
|
rs530291076
|
0.00001
|
NM_000094.4(COL7A1):c.7590C>T (p.Gly2530=)
|
rs538364300
|
0.00001
|
NM_000094.4(COL7A1):c.7605G>A (p.Lys2535=)
|
rs375555530
|
0.00001
|
NM_000094.4(COL7A1):c.7614+9G>A
|
rs377591174
|
0.00001
|
NM_000094.4(COL7A1):c.7695G>A (p.Lys2565=)
|
rs758221970
|
0.00001
|
NM_000094.4(COL7A1):c.7773A>T (p.Ala2591=)
|
rs1172827810
|
0.00001
|
NM_000094.4(COL7A1):c.777G>A (p.Val259=)
|
rs1246610754
|
0.00001
|
NM_000094.4(COL7A1):c.7929+8G>A
|
rs750956651
|
0.00001
|
NM_000094.4(COL7A1):c.7930-5T>C
|
rs2043672539
|
0.00001
|
NM_000094.4(COL7A1):c.7944C>T (p.Pro2648=)
|
rs778113192
|
0.00001
|
NM_000094.4(COL7A1):c.7980G>A (p.Glu2660=)
|
rs1462554987
|
0.00001
|
NM_000094.4(COL7A1):c.8001G>A (p.Pro2667=)
|
rs760633957
|
0.00001
|
NM_000094.4(COL7A1):c.805C>T (p.Leu269=)
|
rs763213748
|
0.00001
|
NM_000094.4(COL7A1):c.8076C>A (p.Gly2692=)
|
rs1310671864
|
0.00001
|
NM_000094.4(COL7A1):c.8079C>T (p.Pro2693=)
|
rs1422692870
|
0.00001
|
NM_000094.4(COL7A1):c.8085T>G (p.Gly2695=)
|
rs748087213
|
0.00001
|
NM_000094.4(COL7A1):c.8088C>T (p.Asp2696=)
|
rs368916742
|
0.00001
|
NM_000094.4(COL7A1):c.8106G>A (p.Glu2702=)
|
rs758623851
|
0.00001
|
NM_000094.4(COL7A1):c.8110-12A>G
|
rs779889882
|
0.00001
|
NM_000094.4(COL7A1):c.8167C>T (p.Pro2723Ser)
|
rs774540354
|
0.00001
|
NM_000094.4(COL7A1):c.8280A>G (p.Gly2760=)
|
rs374365287
|
0.00001
|
NM_000094.4(COL7A1):c.8353C>T (p.Leu2785=)
|
rs780130738
|
0.00001
|
NM_000094.4(COL7A1):c.8358+17A>G
|
rs427245
|
0.00001
|
NM_000094.4(COL7A1):c.8407+18C>T
|
rs757958743
|
0.00001
|
NM_000094.4(COL7A1):c.8408-13C>T
|
rs1332429352
|
0.00001
|
NM_000094.4(COL7A1):c.8408-16T>G
|
rs759647902
|
0.00001
|
NM_000094.4(COL7A1):c.8408-7C>G
|
rs771444964
|
0.00001
|
NM_000094.4(COL7A1):c.8440+8G>A
|
rs200575328
|
0.00001
|
NM_000094.4(COL7A1):c.8441-13C>T
|
rs755960601
|
0.00001
|
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=)
|
rs751768659
|
0.00001
|
NM_000094.4(COL7A1):c.8484C>T (p.Leu2828=)
|
rs143054969
|
0.00001
|
NM_000094.4(COL7A1):c.85+8C>T
|
rs1407783780
|
0.00001
|
NM_000094.4(COL7A1):c.8589C>T (p.Tyr2863=)
|
rs1400673583
|
0.00001
|
NM_000094.4(COL7A1):c.86-18C>T
|
rs777328862
|
0.00001
|
NM_000094.4(COL7A1):c.86-7G>A
|
rs1359934179
|
0.00001
|
NM_000094.4(COL7A1):c.86-9C>T
|
rs747336903
|
0.00001
|
NM_000094.4(COL7A1):c.8611G>A (p.Asp2871Asn)
|
rs746146532
|
0.00001
|
NM_000094.4(COL7A1):c.8668C>T (p.Leu2890=)
|
rs938541239
|
0.00001
|
NM_000094.4(COL7A1):c.8684G>A (p.Arg2895Gln)
|
rs147911102
|
0.00001
|
NM_000094.4(COL7A1):c.8818+10G>T
|
rs1270565315
|
0.00001
|
NM_000094.4(COL7A1):c.927C>T (p.Ala309=)
|
rs753252649
|
0.00001
|
NM_000094.4(COL7A1):c.951G>A (p.Glu317=)
|
rs1482481603
|
0.00001
|
NM_000094.4(COL7A1):c.961G>A (p.Gly321Arg)
|
rs772063851
|
0.00001
|
NM_000094.4(COL7A1):c.966A>G (p.Thr322=)
|
rs778628467
|
0.00001
|
NM_000094.4(COL7A1):c.976+13G>A
|
rs1006307765
|
0.00001
|
NM_000094.4(COL7A1):c.977-7C>T
|
rs372501657
|
0.00001
|
NM_000094.4(COL7A1):c.993G>A (p.Pro331=)
|
rs200086083
|
0.00001
|
NM_000094.4(COL7A1):c.1008G>A (p.Gln336=)
|
rs2107793332
|
|
NM_000094.4(COL7A1):c.1014C>T (p.Thr338=)
|
|
|
NM_000094.4(COL7A1):c.1029C>A (p.Leu343=)
|
|
|
NM_000094.4(COL7A1):c.102T>G (p.Leu34=)
|
|
|
NM_000094.4(COL7A1):c.1032G>C (p.Leu344=)
|
rs946311662
|
|
NM_000094.4(COL7A1):c.1038C>T (p.Ala346=)
|
|
|
NM_000094.4(COL7A1):c.1042C>A (p.Arg348=)
|
|
|
NM_000094.4(COL7A1):c.1042C>T (p.Arg348Trp)
|
|
|
NM_000094.4(COL7A1):c.1044G>A (p.Arg348=)
|
|
|
NM_000094.4(COL7A1):c.1047T>C (p.Ser349=)
|
rs2107793088
|
|
NM_000094.4(COL7A1):c.1053A>T (p.Pro351=)
|
|
|
NM_000094.4(COL7A1):c.1059C>T (p.Ala353=)
|
|
|
NM_000094.4(COL7A1):c.105C>T (p.Tyr35=)
|
rs751325519
|
|
NM_000094.4(COL7A1):c.1081C>A (p.Arg361=)
|
|
|
NM_000094.4(COL7A1):c.1089C>T (p.Leu363=)
|
|
|
NM_000094.4(COL7A1):c.108C>T (p.Ala36=)
|
rs1267001380
|
|
NM_000094.4(COL7A1):c.1093+11G>A
|
|
|
NM_000094.4(COL7A1):c.1093+11G>C
|
|
|
NM_000094.4(COL7A1):c.1093+11G>T
|
|
|
NM_000094.4(COL7A1):c.1093+11del
|
|
|
NM_000094.4(COL7A1):c.1093+7G>A
|
|
|
NM_000094.4(COL7A1):c.1093+7G>C
|
rs2107792754
|
|
NM_000094.4(COL7A1):c.1093+9G>A
|
|
|
NM_000094.4(COL7A1):c.1094-10C>G
|
|
|
NM_000094.4(COL7A1):c.1094-13G>A
|
|
|
NM_000094.4(COL7A1):c.1094-15G>A
|
rs2107792256
|
|
NM_000094.4(COL7A1):c.1094-16G>C
|
|
|
NM_000094.4(COL7A1):c.1094-19C>T
|
|
|
NM_000094.4(COL7A1):c.1094-4G>C
|
|
|
NM_000094.4(COL7A1):c.1094-5T>C
|
|
|
NM_000094.4(COL7A1):c.1094-6A>T
|
rs757717493
|
|
NM_000094.4(COL7A1):c.1107G>A (p.Gln369=)
|
rs1197273468
|
|
NM_000094.4(COL7A1):c.1115A>G (p.Glu372Gly)
|
|
|
NM_000094.4(COL7A1):c.1119G>T (p.Leu373=)
|
rs2107791869
|
|
NM_000094.4(COL7A1):c.111T>G (p.Ala37=)
|
rs2107807481
|
|
NM_000094.4(COL7A1):c.1128G>A (p.Gly376=)
|
|
|
NM_000094.4(COL7A1):c.1128G>T (p.Gly376=)
|
|
|
NM_000094.4(COL7A1):c.1140G>A (p.Val380=)
|
rs2107791760
|
|
NM_000094.4(COL7A1):c.1147C>T (p.Arg383Cys)
|
|
|
NM_000094.4(COL7A1):c.1148G>A (p.Arg383His)
|
|
|
NM_000094.4(COL7A1):c.1158G>A (p.Glu386=)
|
rs972788383
|
|
NM_000094.4(COL7A1):c.1176G>A (p.Glu392=)
|
rs1362408873
|
|
NM_000094.4(COL7A1):c.1183G>A (p.Val395Met)
|
|
|
NM_000094.4(COL7A1):c.1191C>A (p.Thr397=)
|
|
|
NM_000094.4(COL7A1):c.1191C>T (p.Thr397=)
|
rs143270071
|
|
NM_000094.4(COL7A1):c.1201C>T (p.Arg401Cys)
|
|
|
NM_000094.4(COL7A1):c.1206T>C (p.Ser402=)
|
|
|
NM_000094.4(COL7A1):c.120G>A (p.Val40=)
|
|
|
NM_000094.4(COL7A1):c.1215C>G (p.Pro405=)
|
rs200882719
|
|
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=)
|
rs200882719
|
|
NM_000094.4(COL7A1):c.1224C>A (p.Ser408=)
|
|
|
NM_000094.4(COL7A1):c.1224C>T (p.Ser408=)
|
|
|
NM_000094.4(COL7A1):c.1225C>T (p.Leu409=)
|
rs2107791116
|
|
NM_000094.4(COL7A1):c.123C>T (p.Phe41=)
|
|
|
NM_000094.4(COL7A1):c.1240+14G>A
|
|
|
NM_000094.4(COL7A1):c.1240+16A>G
|
|
|
NM_000094.4(COL7A1):c.1240+16A>T
|
|
|
NM_000094.4(COL7A1):c.1240+18T>G
|
|
|
NM_000094.4(COL7A1):c.1240+9G>T
|
|
|
NM_000094.4(COL7A1):c.1241-14T>C
|
|
|
NM_000094.4(COL7A1):c.1241-17C>T
|
|
|
NM_000094.4(COL7A1):c.1241-7T>C
|
rs2107790458
|
|
NM_000094.4(COL7A1):c.1241-7T>G
|
|
|
NM_000094.4(COL7A1):c.1251T>G (p.Val417=)
|
rs2107790345
|
|
NM_000094.4(COL7A1):c.1260C>A (p.Thr420=)
|
|
|
NM_000094.4(COL7A1):c.1266C>A (p.Arg422=)
|
|
|
NM_000094.4(COL7A1):c.1269G>A (p.Pro423=)
|
|
|
NM_000094.4(COL7A1):c.1275C>T (p.Ile425=)
|
rs2107790150
|
|
NM_000094.4(COL7A1):c.1293C>T (p.Ile431=)
|
rs2107790028
|
|
NM_000094.4(COL7A1):c.1296C>G (p.Leu432=)
|
|
|
NM_000094.4(COL7A1):c.129G>A (p.Leu43=)
|
|
|
NM_000094.4(COL7A1):c.1302C>T (p.Ser434=)
|
|
|
NM_000094.4(COL7A1):c.1308C>T (p.Asn436=)
|
rs2107789972
|
|
NM_000094.4(COL7A1):c.1314G>A (p.Val438=)
|
|
|
NM_000094.4(COL7A1):c.1317T>C (p.Pro439=)
|
|
|
NM_000094.4(COL7A1):c.132T>C (p.Asp44=)
|
|
|
NM_000094.4(COL7A1):c.1332C>T (p.Tyr444=)
|
rs1575490179
|
|
NM_000094.4(COL7A1):c.1334G>A (p.Arg445Gln)
|
|
|
NM_000094.4(COL7A1):c.1347G>A (p.Arg449=)
|
rs2107789770
|
|
NM_000094.4(COL7A1):c.1349G>A (p.Arg450His)
|
|
|
NM_000094.4(COL7A1):c.1357+11G>C
|
|
|
NM_000094.4(COL7A1):c.1357+15A>G
|
|
|
NM_000094.4(COL7A1):c.1357+16G>A
|
|
|
NM_000094.4(COL7A1):c.1357+16G>T
|
|
|
NM_000094.4(COL7A1):c.1357+18G>A
|
|
|
NM_000094.4(COL7A1):c.1357+19_1358-37del
|
|
|
NM_000094.4(COL7A1):c.1357+8C>A
|
rs368098361
|
|
NM_000094.4(COL7A1):c.1357+9G>C
|
|
|
NM_000094.4(COL7A1):c.1358-11T>C
|
|
|
NM_000094.4(COL7A1):c.1358-11T>G
|
|
|
NM_000094.4(COL7A1):c.1358-16C>T
|
|
|
NM_000094.4(COL7A1):c.1358-17A>T
|
|
|
NM_000094.4(COL7A1):c.1358-20C>T
|
|
|
NM_000094.4(COL7A1):c.1358-9A>C
|
|
|
NM_000094.4(COL7A1):c.1362G>A (p.Leu454=)
|
rs2107789087
|
|
NM_000094.4(COL7A1):c.1380G>A (p.Val460=)
|
|
|
NM_000094.4(COL7A1):c.1384C>T (p.Leu462=)
|
|
|
NM_000094.4(COL7A1):c.1389C>T (p.Pro463=)
|
rs2107788930
|
|
NM_000094.4(COL7A1):c.138C>A (p.Ser46=)
|
|
|
NM_000094.4(COL7A1):c.1401C>T (p.Thr467=)
|
rs2107788868
|
|
NM_000094.4(COL7A1):c.1431C>T (p.Gly477=)
|
rs2107788635
|
|
NM_000094.4(COL7A1):c.1434T>A (p.Thr478=)
|
rs2045716888
|
|
NM_000094.4(COL7A1):c.1437G>A (p.Glu479=)
|
rs2107788610
|
|
NM_000094.4(COL7A1):c.1441C>T (p.Arg481Cys)
|
|
|
NM_000094.4(COL7A1):c.1443C>T (p.Arg481=)
|
rs753173025
|
|
NM_000094.4(COL7A1):c.1446C>A (p.Leu482=)
|
|
|
NM_000094.4(COL7A1):c.1449A>C (p.Thr483=)
|
|
|
NM_000094.4(COL7A1):c.1449A>G (p.Thr483=)
|
rs767837679
|
|
NM_000094.4(COL7A1):c.144C>A (p.Ser48=)
|
|
|
NM_000094.4(COL7A1):c.144C>G (p.Ser48=)
|
rs1161695509
|
|
NM_000094.4(COL7A1):c.1452C>G (p.Leu484=)
|
|
|
NM_000094.4(COL7A1):c.1461G>A (p.Leu487=)
|
|
|
NM_000094.4(COL7A1):c.1464G>C (p.Leu488=)
|
|
|
NM_000094.4(COL7A1):c.1474G>A (p.Glu492Lys)
|
|
|
NM_000094.4(COL7A1):c.1485C>G (p.Thr495=)
|
rs1575489466
|
|
NM_000094.4(COL7A1):c.1485C>T (p.Thr495=)
|
rs1575489466
|
|
NM_000094.4(COL7A1):c.1488T>C (p.Pro496=)
|
rs2107788236
|
|
NM_000094.4(COL7A1):c.1503C>T (p.Pro501=)
|
rs2045711473
|
|
NM_000094.4(COL7A1):c.1507+12G>A
|
|
|
NM_000094.4(COL7A1):c.1507+12G>C
|
|
|
NM_000094.4(COL7A1):c.1507+16G>C
|
|
|
NM_000094.4(COL7A1):c.1507+17C>A
|
|
|
NM_000094.4(COL7A1):c.1507+17C>G
|
|
|
NM_000094.4(COL7A1):c.1507+19G>T
|
|
|
NM_000094.4(COL7A1):c.1507+8C>T
|
rs2045710765
|
|
NM_000094.4(COL7A1):c.1507+9T>C
|
|
|
NM_000094.4(COL7A1):c.1508-18T>A
|
|
|
NM_000094.4(COL7A1):c.1508-7C>G
|
|
|
NM_000094.4(COL7A1):c.1508-7C>T
|
|
|
NM_000094.4(COL7A1):c.1508-9C>A
|
rs755301783
|
|
NM_000094.4(COL7A1):c.1508-9C>G
|
rs755301783
|
|
NM_000094.4(COL7A1):c.150C>A (p.Gly50=)
|
|
|
NM_000094.4(COL7A1):c.1518G>A (p.Leu506=)
|
rs764816904
|
|
NM_000094.4(COL7A1):c.1540C>T (p.Leu514=)
|
|
|
NM_000094.4(COL7A1):c.1548C>A (p.Ala516=)
|
|
|
NM_000094.4(COL7A1):c.1548C>T (p.Ala516=)
|
|
|
NM_000094.4(COL7A1):c.1551C>A (p.Thr517=)
|
rs199556963
|
|
NM_000094.4(COL7A1):c.1560C>A (p.Pro520=)
|
|
|
NM_000094.4(COL7A1):c.1562G>A (p.Gly521Glu)
|
|
|
NM_000094.4(COL7A1):c.1568G>A (p.Arg523Gln)
|
|
|
NM_000094.4(COL7A1):c.1569G>A (p.Arg523=)
|
rs2045699122
|
|
NM_000094.4(COL7A1):c.1574G>A (p.Arg525Gln)
|
|
|
NM_000094.4(COL7A1):c.1575A>G (p.Arg525=)
|
rs2045698385
|
|
NM_000094.4(COL7A1):c.1587C>T (p.Ser529=)
|
|
|
NM_000094.4(COL7A1):c.1590A>G (p.Pro530=)
|
|
|
NM_000094.4(COL7A1):c.1593C>A (p.Val531=)
|
rs2107787045
|
|
NM_000094.4(COL7A1):c.1599T>G (p.Gly533=)
|
rs2107786989
|
|
NM_000094.4(COL7A1):c.1605C>G (p.Thr535=)
|
|
|
NM_000094.4(COL7A1):c.1612C>T (p.Arg538Cys)
|
|
|
NM_000094.4(COL7A1):c.1614C>T (p.Arg538=)
|
|
|
NM_000094.4(COL7A1):c.1636+12G>C
|
|
|
NM_000094.4(COL7A1):c.1636+17C>T
|
|
|
NM_000094.4(COL7A1):c.1636+7T>C
|
rs2107786649
|
|
NM_000094.4(COL7A1):c.1637-10T>C
|
|
|
NM_000094.4(COL7A1):c.1637-17C>T
|
|
|
NM_000094.4(COL7A1):c.1637-18C>T
|
rs2107782932
|
|
NM_000094.4(COL7A1):c.1637-5C>T
|
rs2107782885
|
|
NM_000094.4(COL7A1):c.1637-6T>C
|
|
|
NM_000094.4(COL7A1):c.1637-7C>T
|
|
|
NM_000094.4(COL7A1):c.1637-9C>G
|
|
|
NM_000094.4(COL7A1):c.1638G>A (p.Gly546=)
|
|
|
NM_000094.4(COL7A1):c.1638G>T (p.Gly546=)
|
rs2107782806
|
|
NM_000094.4(COL7A1):c.1645C>T (p.Arg549Trp)
|
|
|
NM_000094.4(COL7A1):c.1650C>G (p.Thr550=)
|
rs1211819315
|
|
NM_000094.4(COL7A1):c.1650C>T (p.Thr550=)
|
|
|
NM_000094.4(COL7A1):c.1659T>C (p.Leu553=)
|
|
|
NM_000094.4(COL7A1):c.165C>G (p.Arg55=)
|
|
|
NM_000094.4(COL7A1):c.165C>T (p.Arg55=)
|
|
|
NM_000094.4(COL7A1):c.1673C>A (p.Thr558Lys)
|
|
|
NM_000094.4(COL7A1):c.168G>A (p.Glu56=)
|
|
|
NM_000094.4(COL7A1):c.16C>T (p.Leu6=)
|
|
|
NM_000094.4(COL7A1):c.1716T>C (p.Thr572=)
|
rs754432479
|
|
NM_000094.4(COL7A1):c.171C>T (p.Val57=)
|
rs747663542
|
|
NM_000094.4(COL7A1):c.1720C>G (p.Arg574Gly)
|
|
|
NM_000094.4(COL7A1):c.1725G>A (p.Val575=)
|
rs1329588820
|
|
NM_000094.4(COL7A1):c.1731T>C (p.Ala577=)
|
|
|
NM_000094.4(COL7A1):c.1744C>T (p.Arg582Cys)
|
|
|
NM_000094.4(COL7A1):c.1749G>A (p.Glu583=)
|
|
|
NM_000094.4(COL7A1):c.1754G>A (p.Ser585Asn)
|
|
|
NM_000094.4(COL7A1):c.1754G>C (p.Ser585Thr)
|
|
|
NM_000094.4(COL7A1):c.1776C>T (p.Arg592=)
|
|
|
NM_000094.4(COL7A1):c.1780+14G>A
|
|
|
NM_000094.4(COL7A1):c.1780+9T>C
|
|
|
NM_000094.4(COL7A1):c.1780+9T>G
|
rs2107781744
|
|
NM_000094.4(COL7A1):c.1781-11_1781-10del
|
|
|
NM_000094.4(COL7A1):c.1781-13C>T
|
|
|
NM_000094.4(COL7A1):c.1781-21_1781-15del
|
|
|
NM_000094.4(COL7A1):c.1781-28ACTTCTG[3]
|
|
|
NM_000094.4(COL7A1):c.1781-5C>T
|
|
|
NM_000094.4(COL7A1):c.1781-8A>C
|
|
|
NM_000094.4(COL7A1):c.1785G>C (p.Pro595=)
|
rs749549682
|
|
NM_000094.4(COL7A1):c.1791T>C (p.Thr597=)
|
rs2107781093
|
|
NM_000094.4(COL7A1):c.1806A>T (p.Pro602=)
|
rs2107780967
|
|
NM_000094.4(COL7A1):c.1809G>A (p.Gly603=)
|
|
|
NM_000094.4(COL7A1):c.1813C>A (p.Arg605=)
|
|
|
NM_000094.4(COL7A1):c.1815G>A (p.Arg605=)
|
|
|
NM_000094.4(COL7A1):c.1818T>G (p.Val606=)
|
rs2107780833
|
|
NM_000094.4(COL7A1):c.1821G>A (p.Val607=)
|
|
|
NM_000094.4(COL7A1):c.1821G>C (p.Val607=)
|
rs753531772
|
|
NM_000094.4(COL7A1):c.1836G>A (p.Thr612=)
|
rs151186709
|
|
NM_000094.4(COL7A1):c.183C>T (p.Leu61=)
|
|
|
NM_000094.4(COL7A1):c.1845G>A (p.Arg615=)
|
|
|
NM_000094.4(COL7A1):c.1848G>A (p.Val616=)
|
rs2107780569
|
|
NM_000094.4(COL7A1):c.1872C>T (p.Ala624=)
|
|
|
NM_000094.4(COL7A1):c.1874G>C (p.Ser625Thr)
|
|
|
NM_000094.4(COL7A1):c.1875T>C (p.Ser625=)
|
|
|
NM_000094.4(COL7A1):c.1882C>T (p.Arg628Trp)
|
|
|
NM_000094.4(COL7A1):c.1883G>A (p.Arg628Gln)
|
|
|
NM_000094.4(COL7A1):c.18G>T (p.Leu6=)
|
rs1445600478
|
|
NM_000094.4(COL7A1):c.1906+19G>A
|
|
|
NM_000094.4(COL7A1):c.1906+8T>C
|
rs1575486120
|
|
NM_000094.4(COL7A1):c.1906+9G>A
|
rs2107780085
|
|
NM_000094.4(COL7A1):c.1907-13C>T
|
|
|
NM_000094.4(COL7A1):c.1907-17T>A
|
|
|
NM_000094.4(COL7A1):c.1907-18A>G
|
|
|
NM_000094.4(COL7A1):c.1907-20G>A
|
|
|
NM_000094.4(COL7A1):c.190C>T (p.Leu64=)
|
|
|
NM_000094.4(COL7A1):c.1914G>A (p.Glu638=)
|
rs2107779171
|
|
NM_000094.4(COL7A1):c.1917C>T (p.Ser639=)
|
rs2045603748
|
|
NM_000094.4(COL7A1):c.1926A>G (p.Thr642=)
|
rs1575485634
|
|
NM_000094.4(COL7A1):c.1932C>A (p.Pro644=)
|
rs750903788
|
|
NM_000094.4(COL7A1):c.1932C>T (p.Pro644=)
|
rs750903788
|
|
NM_000094.4(COL7A1):c.1938C>T (p.Asp646=)
|
|
|
NM_000094.4(COL7A1):c.1959A>G (p.Thr653=)
|
rs1383696679
|
|
NM_000094.4(COL7A1):c.196C>T (p.Leu66=)
|
rs2107806845
|
|
NM_000094.4(COL7A1):c.1980C>T (p.Thr660=)
|
rs1299894450
|
|
NM_000094.4(COL7A1):c.1992T>A (p.Ala664=)
|
|
|
NM_000094.4(COL7A1):c.2006G>A (p.Arg669Gln)
|
|
|
NM_000094.4(COL7A1):c.2012G>A (p.Arg671Lys)
|
|
|
NM_000094.4(COL7A1):c.2022C>G (p.Gly674=)
|
|
|
NM_000094.4(COL7A1):c.2040G>A (p.Val680=)
|
rs762394182
|
|
NM_000094.4(COL7A1):c.2044C>A (p.Arg682=)
|
|
|
NM_000094.4(COL7A1):c.2046A>C (p.Arg682=)
|
|
|
NM_000094.4(COL7A1):c.2050+11G>C
|
|
|
NM_000094.4(COL7A1):c.2050+12C>T
|
|
|
NM_000094.4(COL7A1):c.2050+17G>A
|
|
|
NM_000094.4(COL7A1):c.2050+17G>T
|
|
|
NM_000094.4(COL7A1):c.2050+19C>A
|
|
|
NM_000094.4(COL7A1):c.2050+19C>G
|
rs775603589
|
|
NM_000094.4(COL7A1):c.2050+20C>A
|
|
|
NM_000094.4(COL7A1):c.2050+8C>A
|
rs200654405
|
|
NM_000094.4(COL7A1):c.2050+8C>T
|
rs200654405
|
|
NM_000094.4(COL7A1):c.2051-16T>C
|
|
|
NM_000094.4(COL7A1):c.2051-18A>C
|
|
|
NM_000094.4(COL7A1):c.2051-19C>G
|
|
|
NM_000094.4(COL7A1):c.2051-5A>G
|
rs775400801
|
|
NM_000094.4(COL7A1):c.2070G>A (p.Arg690=)
|
|
|
NM_000094.4(COL7A1):c.2073G>T (p.Thr691=)
|
rs749328156
|
|
NM_000094.4(COL7A1):c.2079T>C (p.His693=)
|
|
|
NM_000094.4(COL7A1):c.2100A>T (p.Ser700=)
|
|
|
NM_000094.4(COL7A1):c.2109C>A (p.Thr703=)
|
|
|
NM_000094.4(COL7A1):c.210A>G (p.Gly70=)
|
rs2107806720
|
|
NM_000094.4(COL7A1):c.2125G>A (p.Val709Ile)
|
|
|
NM_000094.4(COL7A1):c.2133C>A (p.Gly711=)
|
rs934402491
|
|
NM_000094.4(COL7A1):c.2134G>A (p.Ala712Thr)
|
|
|
NM_000094.4(COL7A1):c.2160C>T (p.His720=)
|
rs2107774233
|
|
NM_000094.4(COL7A1):c.2170+19G>A
|
|
|
NM_000094.4(COL7A1):c.2170+19G>C
|
|
|
NM_000094.4(COL7A1):c.2170+20del
|
|
|
NM_000094.4(COL7A1):c.2170+7A>C
|
|
|
NM_000094.4(COL7A1):c.2171-12C>A
|
|
|
NM_000094.4(COL7A1):c.2171-14A>T
|
|
|
NM_000094.4(COL7A1):c.2171-15C>T
|
|
|
NM_000094.4(COL7A1):c.2171-20G>A
|
|
|
NM_000094.4(COL7A1):c.2171-8G>C
|
|
|
NM_000094.4(COL7A1):c.2171-8G>T
|
|
|
NM_000094.4(COL7A1):c.2175A>C (p.Pro725=)
|
rs2045538364
|
|
NM_000094.4(COL7A1):c.2175A>G (p.Pro725=)
|
|
|
NM_000094.4(COL7A1):c.2178G>A (p.Glu726=)
|
|
|
NM_000094.4(COL7A1):c.2184C>A (p.Ser728=)
|
rs2045538036
|
|
NM_000094.4(COL7A1):c.2188T>C (p.Leu730=)
|
rs1575482956
|
|
NM_000094.4(COL7A1):c.2190G>A (p.Leu730=)
|
|
|
NM_000094.4(COL7A1):c.2196T>C (p.Ser732=)
|
|
|
NM_000094.4(COL7A1):c.2208G>C (p.Thr736=)
|
|
|
NM_000094.4(COL7A1):c.2208G>T (p.Thr736=)
|
|
|
NM_000094.4(COL7A1):c.2214T>C (p.Ala738=)
|
|
|
NM_000094.4(COL7A1):c.2217G>A (p.Glu739=)
|
|
|
NM_000094.4(COL7A1):c.2220G>A (p.Leu740=)
|
|
|
NM_000094.4(COL7A1):c.2223T>C (p.Asp741=)
|
rs2107772745
|
|
NM_000094.4(COL7A1):c.2234C>A (p.Pro745Gln)
|
|
|
NM_000094.4(COL7A1):c.2238T>C (p.Asp746=)
|
|
|
NM_000094.4(COL7A1):c.2241T>C (p.Thr747=)
|
|
|
NM_000094.4(COL7A1):c.2250G>A (p.Thr750=)
|
rs769232572
|
|
NM_000094.4(COL7A1):c.2250G>T (p.Thr750=)
|
rs769232572
|
|
NM_000094.4(COL7A1):c.2251G>A (p.Val751Met)
|
|
|
NM_000094.4(COL7A1):c.2256T>C (p.His752=)
|
|
|
NM_000094.4(COL7A1):c.2280G>C (p.Val760=)
|
|
|
NM_000094.4(COL7A1):c.2286G>A (p.Gly762=)
|
|
|
NM_000094.4(COL7A1):c.2289C>T (p.Pro763=)
|
|
|
NM_000094.4(COL7A1):c.2291C>T (p.Pro764Leu)
|
|
|
NM_000094.4(COL7A1):c.2294C>A (p.Ala765Asp)
|
|
|
NM_000094.4(COL7A1):c.2295C>T (p.Ala765=)
|
rs2107772082
|
|
NM_000094.4(COL7A1):c.2307G>A (p.Val769=)
|
rs2107771956
|
|
NM_000094.4(COL7A1):c.2314+10C>A
|
rs1182482791
|
|
NM_000094.4(COL7A1):c.2314+11C>T
|
|
|
NM_000094.4(COL7A1):c.2314+12C>G
|
|
|
NM_000094.4(COL7A1):c.2314+12_2314+24del
|
|
|
NM_000094.4(COL7A1):c.2314+16C>A
|
|
|
NM_000094.4(COL7A1):c.2314+16C>G
|
|
|
NM_000094.4(COL7A1):c.2314+17C>G
|
|
|
NM_000094.4(COL7A1):c.2315-11T>C
|
|
|
NM_000094.4(COL7A1):c.2315-15T>C
|
|
|
NM_000094.4(COL7A1):c.2315-17C>G
|
|
|
NM_000094.4(COL7A1):c.2319T>C (p.Pro773=)
|
|
|
NM_000094.4(COL7A1):c.2322G>A (p.Glu774=)
|
|
|
NM_000094.4(COL7A1):c.2325T>C (p.Pro775=)
|
rs2107769373
|
|
NM_000094.4(COL7A1):c.2333G>A (p.Arg778His)
|
|
|
NM_000094.4(COL7A1):c.2333G>C (p.Arg778Pro)
|
|
|
NM_000094.4(COL7A1):c.2339C>T (p.Ser780Leu)
|
|
|
NM_000094.4(COL7A1):c.2346G>A (p.Leu782=)
|
rs2045495669
|
|
NM_000094.4(COL7A1):c.2349G>A (p.Gln783=)
|
|
|
NM_000094.4(COL7A1):c.2355C>A (p.Leu785=)
|
|
|
NM_000094.4(COL7A1):c.2355C>T (p.Leu785=)
|
|
|
NM_000094.4(COL7A1):c.2357A>G (p.Asn786Ser)
|
|
|
NM_000094.4(COL7A1):c.2361T>C (p.Ala787=)
|
|
|
NM_000094.4(COL7A1):c.2364C>A (p.Ser788=)
|
|
|
NM_000094.4(COL7A1):c.2367C>G (p.Ser789Arg)
|
|
|
NM_000094.4(COL7A1):c.2373T>A (p.Val791=)
|
rs2107768895
|
|
NM_000094.4(COL7A1):c.2382C>T (p.Ile794=)
|
rs1388911281
|
|
NM_000094.4(COL7A1):c.2385C>A (p.Thr795=)
|
|
|
NM_000094.4(COL7A1):c.2385C>T (p.Thr795=)
|
rs150103090
|
|
NM_000094.4(COL7A1):c.2391A>C (p.Val797=)
|
rs752877416
|
|
NM_000094.4(COL7A1):c.2394G>A (p.Gly798=)
|
rs1170929677
|
|
NM_000094.4(COL7A1):c.2397C>T (p.Val799=)
|
|
|
NM_000094.4(COL7A1):c.2406C>T (p.Ala802=)
|
|
|
NM_000094.4(COL7A1):c.2424C>T (p.Ala808=)
|
|
|
NM_000094.4(COL7A1):c.2437G>A (p.Glu813Lys)
|
|
|
NM_000094.4(COL7A1):c.2440+11C>T
|
|
|
NM_000094.4(COL7A1):c.2440+15C>G
|
|
|
NM_000094.4(COL7A1):c.2440+15C>T
|
|
|
NM_000094.4(COL7A1):c.2440+20C>T
|
|
|
NM_000094.4(COL7A1):c.2440+9C>T
|
|
|
NM_000094.4(COL7A1):c.2441-10A>C
|
rs986863122
|
|
NM_000094.4(COL7A1):c.2441-10A>T
|
|
|
NM_000094.4(COL7A1):c.2441-11C>T
|
|
|
NM_000094.4(COL7A1):c.2441-20C>T
|
|
|
NM_000094.4(COL7A1):c.2441-4C>G
|
|
|
NM_000094.4(COL7A1):c.2441-8C>T
|
|
|
NM_000094.4(COL7A1):c.2441-9C>T
|
|
|
NM_000094.4(COL7A1):c.2442C>A (p.Gly814=)
|
rs546082340
|
|
NM_000094.4(COL7A1):c.2448C>T (p.Pro816=)
|
|
|
NM_000094.4(COL7A1):c.2457C>T (p.His819=)
|
|
|
NM_000094.4(COL7A1):c.2466C>G (p.Leu822=)
|
rs2045477778
|
|
NM_000094.4(COL7A1):c.2469A>C (p.Pro823=)
|
rs886038238
|
|
NM_000094.4(COL7A1):c.246G>T (p.Val82=)
|
rs2107806454
|
|
NM_000094.4(COL7A1):c.2477C>T (p.Thr826Ile)
|
|
|
NM_000094.4(COL7A1):c.2484T>C (p.Ser828=)
|
|
|
NM_000094.4(COL7A1):c.2487A>C (p.Ala829=)
|
rs2107767215
|
|
NM_000094.4(COL7A1):c.2493C>A (p.Ile831=)
|
|
|
NM_000094.4(COL7A1):c.2496G>A (p.Arg832=)
|
|
|
NM_000094.4(COL7A1):c.249G>A (p.Gln83=)
|
|
|
NM_000094.4(COL7A1):c.24C>T (p.Ala8=)
|
|
|
NM_000094.4(COL7A1):c.2505A>C (p.Glu835Asp)
|
|
|
NM_000094.4(COL7A1):c.2520C>T (p.Tyr840=)
|
|
|
NM_000094.4(COL7A1):c.2523A>C (p.Ser841=)
|
|
|
NM_000094.4(COL7A1):c.2529A>G (p.Arg843=)
|
|
|
NM_000094.4(COL7A1):c.2541T>G (p.Leu847=)
|
|
|
NM_000094.4(COL7A1):c.2543T>G (p.Val848Gly)
|
|
|
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn)
|
rs538387822
|
|
NM_000094.4(COL7A1):c.2551C>T (p.Arg851Cys)
|
|
|
NM_000094.4(COL7A1):c.2553C>A (p.Arg851=)
|
rs577279100
|
|
NM_000094.4(COL7A1):c.2553C>G (p.Arg851=)
|
|
|
NM_000094.4(COL7A1):c.2553C>T (p.Arg851=)
|
|
|
NM_000094.4(COL7A1):c.2554G>A (p.Glu852Lys)
|
|
|
NM_000094.4(COL7A1):c.2573T>C (p.Ile858Thr)
|
|
|
NM_000094.4(COL7A1):c.2587+10G>A
|
rs754280379
|
|
NM_000094.4(COL7A1):c.2587+13T>C
|
|
|
NM_000094.4(COL7A1):c.2587+15C>T
|
|
|
NM_000094.4(COL7A1):c.2587+16G>A
|
|
|
NM_000094.4(COL7A1):c.2587+16G>T
|
|
|
NM_000094.4(COL7A1):c.2587+19G>A
|
|
|
NM_000094.4(COL7A1):c.2588-11T>C
|
|
|
NM_000094.4(COL7A1):c.2588-17_2588-6dup
|
|
|
NM_000094.4(COL7A1):c.2588-19T>C
|
|
|
NM_000094.4(COL7A1):c.2588-6C>T
|
rs2107764521
|
|
NM_000094.4(COL7A1):c.2588-7T>C
|
|
|
NM_000094.4(COL7A1):c.2604A>T (p.Pro868=)
|
rs2107764373
|
|
NM_000094.4(COL7A1):c.2607C>T (p.Ala869=)
|
rs1003441750
|
|
NM_000094.4(COL7A1):c.2615C>T (p.Thr872Met)
|
|
|
NM_000094.4(COL7A1):c.2616G>A (p.Thr872=)
|
|
|
NM_000094.4(COL7A1):c.2625G>A (p.Val875=)
|
|
|
NM_000094.4(COL7A1):c.2632C>T (p.Arg878Cys)
|
|
|
NM_000094.4(COL7A1):c.2634C>G (p.Arg878=)
|
|
|
NM_000094.4(COL7A1):c.2634C>T (p.Arg878=)
|
rs201412774
|
|
NM_000094.4(COL7A1):c.2635G>A (p.Gly879Arg)
|
|
|
NM_000094.4(COL7A1):c.2649G>A (p.Leu883=)
|
|
|
NM_000094.4(COL7A1):c.2655G>A (p.Leu885=)
|
|
|
NM_000094.4(COL7A1):c.2656C>T (p.Arg886Cys)
|
|
|
NM_000094.4(COL7A1):c.2657G>A (p.Arg886His)
|
|
|
NM_000094.4(COL7A1):c.266+15T>C
|
|
|
NM_000094.4(COL7A1):c.266+19G>T
|
rs2045920326
|
|
NM_000094.4(COL7A1):c.266+7A>G
|
|
|
NM_000094.4(COL7A1):c.267-11C>A
|
|
|
NM_000094.4(COL7A1):c.267-15C>A
|
|
|
NM_000094.4(COL7A1):c.267-16C>T
|
|
|
NM_000094.4(COL7A1):c.267-17C>A
|
|
|
NM_000094.4(COL7A1):c.267-17C>T
|
|
|
NM_000094.4(COL7A1):c.267-19C>G
|
|
|
NM_000094.4(COL7A1):c.267-7C>T
|
rs2045873231
|
|
NM_000094.4(COL7A1):c.267-8T>A
|
|
|
NM_000094.4(COL7A1):c.2671C>T (p.Pro891Ser)
|
|
|
NM_000094.4(COL7A1):c.2676A>G (p.Arg892=)
|
rs2107763748
|
|
NM_000094.4(COL7A1):c.2679G>C (p.Ala893=)
|
|
|
NM_000094.4(COL7A1):c.26C>T (p.Ala9Val)
|
|
|
NM_000094.4(COL7A1):c.270A>C (p.Thr90=)
|
rs776397296
|
|
NM_000094.4(COL7A1):c.270A>G (p.Thr90=)
|
rs776397296
|
|
NM_000094.4(COL7A1):c.2710+17G>A
|
|
|
NM_000094.4(COL7A1):c.2710+8G>A
|
rs1164250441
|
|
NM_000094.4(COL7A1):c.2711-11G>A
|
|
|
NM_000094.4(COL7A1):c.2711-12C>T
|
|
|
NM_000094.4(COL7A1):c.2711-18C>A
|
|
|
NM_000094.4(COL7A1):c.2711-20C>A
|
rs2045397714
|
|
NM_000094.4(COL7A1):c.2711-20C>T
|
|
|
NM_000094.4(COL7A1):c.2711-4C>G
|
rs1575477823
|
|
NM_000094.4(COL7A1):c.2711-4C>T
|
rs1575477823
|
|
NM_000094.4(COL7A1):c.2711-5C>T
|
rs2107761004
|
|
NM_000094.4(COL7A1):c.2711-6C>T
|
rs2107761018
|
|
NM_000094.4(COL7A1):c.2711-9C>T
|
|
|
NM_000094.4(COL7A1):c.2721A>G (p.Glu907=)
|
rs201566458
|
|
NM_000094.4(COL7A1):c.2724G>A (p.Gln908=)
|
|
|
NM_000094.4(COL7A1):c.2728C>T (p.Arg910Trp)
|
|
|
NM_000094.4(COL7A1):c.2729G>A (p.Arg910Gln)
|
|
|
NM_000094.4(COL7A1):c.2730G>T (p.Arg910=)
|
rs2045393125
|
|
NM_000094.4(COL7A1):c.2742C>G (p.Pro914=)
|
|
|
NM_000094.4(COL7A1):c.2748C>G (p.Leu916=)
|
rs2107760554
|
|
NM_000094.4(COL7A1):c.2748C>T (p.Leu916=)
|
|
|
NM_000094.4(COL7A1):c.2762T>A (p.Leu921Gln)
|
|
|
NM_000094.4(COL7A1):c.2769G>A (p.Gly923=)
|
rs748086542
|
|
NM_000094.4(COL7A1):c.2769G>T (p.Gly923=)
|
|
|
NM_000094.4(COL7A1):c.276C>T (p.Phe92=)
|
rs746563255
|
|
NM_000094.4(COL7A1):c.2775G>A (p.Glu925=)
|
|
|
NM_000094.4(COL7A1):c.277G>A (p.Gly93Ser)
|
|
|
NM_000094.4(COL7A1):c.2780C>T (p.Ala927Val)
|
|
|
NM_000094.4(COL7A1):c.278G>A (p.Gly93Asp)
|
|
|
NM_000094.4(COL7A1):c.2791C>G (p.Arg931Gly)
|
rs143979792
|
|
NM_000094.4(COL7A1):c.2791C>T (p.Arg931Cys)
|
rs143979792
|
|
NM_000094.4(COL7A1):c.2793C>T (p.Arg931=)
|
rs142681592
|
|
NM_000094.4(COL7A1):c.2794G>A (p.Val932Met)
|
|
|
NM_000094.4(COL7A1):c.2799G>A (p.Arg933=)
|
rs1263705181
|
|
NM_000094.4(COL7A1):c.279C>A (p.Gly93=)
|
|
|
NM_000094.4(COL7A1):c.279C>G (p.Gly93=)
|
rs745864625
|
|
NM_000094.4(COL7A1):c.279C>T (p.Gly93=)
|
rs745864625
|
|
NM_000094.4(COL7A1):c.27G>A (p.Ala9=)
|
rs371676492
|
|
NM_000094.4(COL7A1):c.27G>T (p.Ala9=)
|
rs371676492
|
|
NM_000094.4(COL7A1):c.2802G>A (p.Leu934=)
|
|
|
NM_000094.4(COL7A1):c.2805T>C (p.Ser935=)
|
rs2107759950
|
|
NM_000094.4(COL7A1):c.280C>T (p.Leu94=)
|
rs2107802279
|
|
NM_000094.4(COL7A1):c.2817A>T (p.Pro939=)
|
rs1264194
|
|
NM_000094.4(COL7A1):c.2829G>T (p.Gly943=)
|
|
|
NM_000094.4(COL7A1):c.282G>A (p.Leu94=)
|
rs778958806
|
|
NM_000094.4(COL7A1):c.2835T>A (p.Ser945=)
|
rs2107759667
|
|
NM_000094.4(COL7A1):c.2841G>A (p.Glu947=)
|
rs1327984563
|
|
NM_000094.4(COL7A1):c.2844G>C (p.Val948=)
|
|
|
NM_000094.4(COL7A1):c.2850G>C (p.Ala950=)
|
rs746958544
|
|
NM_000094.4(COL7A1):c.2853C>T (p.Arg951=)
|
|
|
NM_000094.4(COL7A1):c.2857+10C>T
|
|
|
NM_000094.4(COL7A1):c.2857+12T>G
|
|
|
NM_000094.4(COL7A1):c.2857+12_2857+13del
|
|
|
NM_000094.4(COL7A1):c.2857+13C>T
|
rs1559424226
|
|
NM_000094.4(COL7A1):c.2857+14A>G
|
|
|
NM_000094.4(COL7A1):c.2857+16C>T
|
|
|
NM_000094.4(COL7A1):c.2857+7C>G
|
|
|
NM_000094.4(COL7A1):c.2857+9G>A
|
|
|
NM_000094.4(COL7A1):c.2858-13A>G
|
|
|
NM_000094.4(COL7A1):c.2858-8_2858-7del
|
|
|
NM_000094.4(COL7A1):c.2858-9C>T
|
|
|
NM_000094.4(COL7A1):c.2859G>A (p.Glu953=)
|
rs757592677
|
|
NM_000094.4(COL7A1):c.2865T>A (p.Pro955=)
|
|
|
NM_000094.4(COL7A1):c.2867G>A (p.Arg956His)
|
|
|
NM_000094.4(COL7A1):c.2868T>C (p.Arg956=)
|
|
|
NM_000094.4(COL7A1):c.2892G>C (p.Val964=)
|
rs2107757741
|
|
NM_000094.4(COL7A1):c.2901C>G (p.Thr967=)
|
|
|
NM_000094.4(COL7A1):c.2901C>T (p.Thr967=)
|
|
|
NM_000094.4(COL7A1):c.2903C>T (p.Ser968Leu)
|
|
|
NM_000094.4(COL7A1):c.2904G>A (p.Ser968=)
|
rs772093867
|
|
NM_000094.4(COL7A1):c.2904G>T (p.Ser968=)
|
|
|
NM_000094.4(COL7A1):c.2913G>A (p.Ser971=)
|
|
|
NM_000094.4(COL7A1):c.2913G>C (p.Ser971=)
|
rs370519980
|
|
NM_000094.4(COL7A1):c.2914G>A (p.Val972Met)
|
|
|
NM_000094.4(COL7A1):c.2916G>T (p.Val972=)
|
|
|
NM_000094.4(COL7A1):c.2919T>C (p.Thr973=)
|
rs2107757458
|
|
NM_000094.4(COL7A1):c.291T>C (p.Leu97=)
|
rs2107802175
|
|
NM_000094.4(COL7A1):c.2925C>G (p.Ala975=)
|
rs376121181
|
|
NM_000094.4(COL7A1):c.2931T>A (p.Thr977=)
|
|
|
NM_000094.4(COL7A1):c.2934A>G (p.Pro978=)
|
rs748311145
|
|
NM_000094.4(COL7A1):c.2943G>A (p.Arg981=)
|
rs2107757253
|
|
NM_000094.4(COL7A1):c.2958C>G (p.Ile986Met)
|
|
|
NM_000094.4(COL7A1):c.2958C>T (p.Ile986=)
|
rs369285281
|
|
NM_000094.4(COL7A1):c.2959C>T (p.Leu987=)
|
|
|
NM_000094.4(COL7A1):c.2964C>G (p.Ser988=)
|
rs1428185013
|
|
NM_000094.4(COL7A1):c.2968C>A (p.Arg990=)
|
rs763751979
|
|
NM_000094.4(COL7A1):c.2977A>C (p.Arg993=)
|
|
|
NM_000094.4(COL7A1):c.2988C>A (p.Gly996=)
|
|
|
NM_000094.4(COL7A1):c.2992+15A>G
|
|
|
NM_000094.4(COL7A1):c.2992+17G>T
|
|
|
NM_000094.4(COL7A1):c.2992+20T>G
|
|
|
NM_000094.4(COL7A1):c.2992+8G>C
|
rs1390292183
|
|
NM_000094.4(COL7A1):c.2992+9dup
|
rs754908793
|
|
NM_000094.4(COL7A1):c.2993-12T>C
|
|
|
NM_000094.4(COL7A1):c.2993-16G>C
|
|
|
NM_000094.4(COL7A1):c.2993-19C>G
|
|
|
NM_000094.4(COL7A1):c.2993-19C>T
|
|
|
NM_000094.4(COL7A1):c.2993-4G>A
|
rs755862446
|
|
NM_000094.4(COL7A1):c.2993-8T>G
|
rs2107756381
|
|
NM_000094.4(COL7A1):c.2993-9C>G
|
|
|
NM_000094.4(COL7A1):c.3001G>C (p.Gly1001Arg)
|
|
|
NM_000094.4(COL7A1):c.3006C>A (p.Ser1002=)
|
rs1356632767
|
|
NM_000094.4(COL7A1):c.3008C>T (p.Pro1003Leu)
|
|
|
NM_000094.4(COL7A1):c.300G>A (p.Gly100=)
|
rs1575495659
|
|
NM_000094.4(COL7A1):c.3018T>G (p.Leu1006=)
|
rs766469119
|
|
NM_000094.4(COL7A1):c.3024G>A (p.Gly1008=)
|
rs2107756044
|
|
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His)
|
rs570498790
|
|
NM_000094.4(COL7A1):c.303T>G (p.Gly101=)
|
|
|
NM_000094.4(COL7A1):c.3040C>A (p.Arg1014=)
|
|
|
NM_000094.4(COL7A1):c.3042G>A (p.Arg1014=)
|
|
|
NM_000094.4(COL7A1):c.3051G>A (p.Gly1017=)
|
rs75167499
|
|
NM_000094.4(COL7A1):c.3054A>G (p.Leu1018=)
|
rs2107755763
|
|
NM_000094.4(COL7A1):c.3068C>T (p.Ser1023Phe)
|
|
|
NM_000094.4(COL7A1):c.3072C>T (p.Tyr1024=)
|
rs2107755560
|
|
NM_000094.4(COL7A1):c.3075C>T (p.Ile1025=)
|
rs1575475714
|
|
NM_000094.4(COL7A1):c.3078C>T (p.Phe1026=)
|
rs1239030771
|
|
NM_000094.4(COL7A1):c.3081C>T (p.Ser1027=)
|
|
|
NM_000094.4(COL7A1):c.3082C>G (p.Leu1028Val)
|
|
|
NM_000094.4(COL7A1):c.3087G>A (p.Thr1029=)
|
rs780661798
|
|
NM_000094.4(COL7A1):c.3087G>T (p.Thr1029=)
|
|
|
NM_000094.4(COL7A1):c.3105G>T (p.Val1035=)
|
|
|
NM_000094.4(COL7A1):c.3106C>T (p.Arg1036Trp)
|
|
|
NM_000094.4(COL7A1):c.3108G>C (p.Arg1036=)
|
|
|
NM_000094.4(COL7A1):c.3132G>A (p.Gln1044=)
|
|
|
NM_000094.4(COL7A1):c.3134C>T (p.Thr1045Met)
|
|
|
NM_000094.4(COL7A1):c.3139+10G>A
|
|
|
NM_000094.4(COL7A1):c.3139+11C>T
|
|
|
NM_000094.4(COL7A1):c.3139+12G>C
|
|
|
NM_000094.4(COL7A1):c.3139+19G>T
|
|
|
NM_000094.4(COL7A1):c.3139+20A>C
|
|
|
NM_000094.4(COL7A1):c.3139+8G>A
|
|
|
NM_000094.4(COL7A1):c.3140-10del
|
rs1228248856
|
|
NM_000094.4(COL7A1):c.3140-11C>T
|
|
|
NM_000094.4(COL7A1):c.3140-12C>T
|
|
|
NM_000094.4(COL7A1):c.3140-13C>A
|
|
|
NM_000094.4(COL7A1):c.3140-13C>T
|
|
|
NM_000094.4(COL7A1):c.3140-14T>C
|
|
|
NM_000094.4(COL7A1):c.3140-16G>C
|
|
|
NM_000094.4(COL7A1):c.3140-18T>C
|
|
|
NM_000094.4(COL7A1):c.3140-4A>G
|
rs201656230
|
|
NM_000094.4(COL7A1):c.3141G>A (p.Val1047=)
|
|
|
NM_000094.4(COL7A1):c.3145C>A (p.Pro1049Thr)
|
|
|
NM_000094.4(COL7A1):c.3147C>T (p.Pro1049=)
|
|
|
NM_000094.4(COL7A1):c.3148C>T (p.Arg1050Cys)
|
|
|
NM_000094.4(COL7A1):c.3150T>A (p.Arg1050=)
|
|
|
NM_000094.4(COL7A1):c.3156G>T (p.Leu1052=)
|
rs2045323348
|
|
NM_000094.4(COL7A1):c.3159G>A (p.Ala1053=)
|
|
|
NM_000094.4(COL7A1):c.3168G>A (p.Val1056=)
|
rs2045322142
|
|
NM_000094.4(COL7A1):c.317C>T (p.Ala106Val)
|
rs767643638
|
|
NM_000094.4(COL7A1):c.3195T>C (p.Asn1065=)
|
rs2107753762
|
|
NM_000094.4(COL7A1):c.3202C>T (p.Arg1068Cys)
|
|
|
NM_000094.4(COL7A1):c.3206C>T (p.Ala1069Val)
|
|
|
NM_000094.4(COL7A1):c.3207G>A (p.Ala1069=)
|
|
|
NM_000094.4(COL7A1):c.3211G>A (p.Ala1071Thr)
|
rs143245957
|
|
NM_000094.4(COL7A1):c.3211G>T (p.Ala1071Ser)
|
rs143245957
|
|
NM_000094.4(COL7A1):c.3213T>A (p.Ala1071=)
|
rs774363321
|
|
NM_000094.4(COL7A1):c.3215C>T (p.Thr1072Met)
|
|
|
NM_000094.4(COL7A1):c.3228G>A (p.Leu1076=)
|
rs2107753337
|
|
NM_000094.4(COL7A1):c.3233G>A (p.Arg1078His)
|
rs748471791
|
|
NM_000094.4(COL7A1):c.3235C>T (p.Leu1079=)
|
|
|
NM_000094.4(COL7A1):c.3243G>A (p.Leu1081=)
|
|
|
NM_000094.4(COL7A1):c.3247C>T (p.Leu1083Phe)
|
|
|
NM_000094.4(COL7A1):c.3252G>A (p.Gly1084=)
|
rs550516762
|
|
NM_000094.4(COL7A1):c.3255T>C (p.Pro1085=)
|
|
|
NM_000094.4(COL7A1):c.3263C>T (p.Pro1088Leu)
|
rs529120446
|
|
NM_000094.4(COL7A1):c.3264A>T (p.Pro1088=)
|
rs777639695
|
|
NM_000094.4(COL7A1):c.3270A>G (p.Ala1090=)
|
|
|
NM_000094.4(COL7A1):c.3276+15C>A
|
|
|
NM_000094.4(COL7A1):c.3276+20A>C
|
|
|
NM_000094.4(COL7A1):c.3276+8C>T
|
|
|
NM_000094.4(COL7A1):c.3276+9C>G
|
|
|
NM_000094.4(COL7A1):c.3277-17G>A
|
|
|
NM_000094.4(COL7A1):c.3277-17_3277-16del
|
|
|
NM_000094.4(COL7A1):c.3277-19G>A
|
|
|
NM_000094.4(COL7A1):c.3277-19G>C
|
|
|
NM_000094.4(COL7A1):c.3277-20T>A
|
|
|
NM_000094.4(COL7A1):c.3277-20T>C
|
|
|
NM_000094.4(COL7A1):c.3277-5C>T
|
rs1427334212
|
|
NM_000094.4(COL7A1):c.3277-6C>A
|
|
|
NM_000094.4(COL7A1):c.3282C>T (p.Gly1094=)
|
rs2045288957
|
|
NM_000094.4(COL7A1):c.3294C>T (p.Tyr1098=)
|
rs1241474192
|
|
NM_000094.4(COL7A1):c.3306C>T (p.Pro1102=)
|
|
|
NM_000094.4(COL7A1):c.3315G>A (p.Leu1105=)
|
rs1436836031
|
|
NM_000094.4(COL7A1):c.3315G>C (p.Leu1105=)
|
|
|
NM_000094.4(COL7A1):c.3336T>C (p.His1112=)
|
|
|
NM_000094.4(COL7A1):c.3339C>T (p.Asp1113=)
|
|
|
NM_000094.4(COL7A1):c.3353T>G (p.Leu1118Trp)
|
|
|
NM_000094.4(COL7A1):c.3354G>C (p.Leu1118Phe)
|
|
|
NM_000094.4(COL7A1):c.3363C>T (p.Ile1121=)
|
rs1559420676
|
|
NM_000094.4(COL7A1):c.3364C>T (p.Arg1122Cys)
|
|
|
NM_000094.4(COL7A1):c.3365G>A (p.Arg1122His)
|
|
|
NM_000094.4(COL7A1):c.3378C>T (p.Tyr1126=)
|
rs2107750137
|
|
NM_000094.4(COL7A1):c.3393G>A (p.Gly1131=)
|
|
|
NM_000094.4(COL7A1):c.33C>T (p.Cys11=)
|
rs1406717458
|
|
NM_000094.4(COL7A1):c.3403+16G>A
|
|
|
NM_000094.4(COL7A1):c.3403+17G>T
|
|
|
NM_000094.4(COL7A1):c.3403+19A>G
|
|
|
NM_000094.4(COL7A1):c.3404-10T>G
|
|
|
NM_000094.4(COL7A1):c.3404-12C>T
|
|
|
NM_000094.4(COL7A1):c.3404-14G>A
|
|
|
NM_000094.4(COL7A1):c.3404-17C>T
|
|
|
NM_000094.4(COL7A1):c.3404-19G>A
|
|
|
NM_000094.4(COL7A1):c.3404-7C>T
|
rs1041176603
|
|
NM_000094.4(COL7A1):c.3407C>T (p.Thr1136Ile)
|
|
|
NM_000094.4(COL7A1):c.3410C>T (p.Ala1137Val)
|
|
|
NM_000094.4(COL7A1):c.342G>A (p.Gly114=)
|
|
|
NM_000094.4(COL7A1):c.3436T>C (p.Leu1146=)
|
rs2107749142
|
|
NM_000094.4(COL7A1):c.3453T>A (p.Pro1151=)
|
|
|
NM_000094.4(COL7A1):c.3456G>A (p.Gly1152=)
|
rs749426366
|
|
NM_000094.4(COL7A1):c.3465G>A (p.Gln1155=)
|
|
|
NM_000094.4(COL7A1):c.3477G>A (p.Gly1159=)
|
rs757858567
|
|
NM_000094.4(COL7A1):c.3481A>G (p.Met1161Val)
|
|
|
NM_000094.4(COL7A1):c.3489G>C (p.Leu1163=)
|
|
|
NM_000094.4(COL7A1):c.3498T>C (p.Asp1166=)
|
rs2107748571
|
|
NM_000094.4(COL7A1):c.3504C>A (p.Pro1168=)
|
rs771346243
|
|
NM_000094.4(COL7A1):c.3513T>C (p.Gly1171=)
|
rs1575472810
|
|
NM_000094.4(COL7A1):c.3522C>T (p.Phe1174=)
|
|
|
NM_000094.4(COL7A1):c.3532C>T (p.Arg1178Cys)
|
|
|
NM_000094.4(COL7A1):c.3533G>A (p.Arg1178His)
|
|
|
NM_000094.4(COL7A1):c.3546T>C (p.Ala1182=)
|
|
|
NM_000094.4(COL7A1):c.354C>T (p.Arg118=)
|
rs2045864886
|
|
NM_000094.4(COL7A1):c.3550+14T>C
|
|
|
NM_000094.4(COL7A1):c.3550+15G>A
|
|
|
NM_000094.4(COL7A1):c.3550+16A>T
|
|
|
NM_000094.4(COL7A1):c.3550+20G>T
|
|
|
NM_000094.4(COL7A1):c.3551-11C>T
|
|
|
NM_000094.4(COL7A1):c.3551-16C>T
|
|
|
NM_000094.4(COL7A1):c.3551-20G>A
|
|
|
NM_000094.4(COL7A1):c.3551-5C>T
|
rs879213218
|
|
NM_000094.4(COL7A1):c.3552G>C (p.Gly1184=)
|
rs2107747591
|
|
NM_000094.4(COL7A1):c.3555T>C (p.Leu1185=)
|
|
|
NM_000094.4(COL7A1):c.3558T>C (p.Asn1186=)
|
rs748272722
|
|
NM_000094.4(COL7A1):c.3561G>A (p.Val1187=)
|
rs2107747480
|
|
NM_000094.4(COL7A1):c.3561G>T (p.Val1187=)
|
|
|
NM_000094.4(COL7A1):c.3568T>C (p.Leu1190=)
|
|
|
NM_000094.4(COL7A1):c.3583G>A (p.Ala1195Thr)
|
|
|
NM_000094.4(COL7A1):c.3597G>A (p.Gln1199=)
|
rs2107747220
|
|
NM_000094.4(COL7A1):c.3598C>T (p.Leu1200=)
|
rs2107747203
|
|
NM_000094.4(COL7A1):c.3600G>A (p.Leu1200=)
|
|
|
NM_000094.4(COL7A1):c.3606C>T (p.Arg1202=)
|
rs1355369129
|
|
NM_000094.4(COL7A1):c.360G>A (p.Gly120=)
|
rs557593683
|
|
NM_000094.4(COL7A1):c.3615G>A (p.Pro1205=)
|
|
|
NM_000094.4(COL7A1):c.3615G>C (p.Pro1205=)
|
|
|
NM_000094.4(COL7A1):c.3615G>T (p.Pro1205=)
|
|
|
NM_000094.4(COL7A1):c.3635C>A (p.Thr1212Asn)
|
|
|
NM_000094.4(COL7A1):c.3639C>T (p.Phe1213=)
|
rs2107746800
|
|
NM_000094.4(COL7A1):c.3643G>A (p.Ala1215Thr)
|
|
|
NM_000094.4(COL7A1):c.3646G>A (p.Val1216Met)
|
|
|
NM_000094.4(COL7A1):c.3648G>A (p.Val1216=)
|
|
|
NM_000094.4(COL7A1):c.3657G>A (p.Gly1219=)
|
rs2107746630
|
|
NM_000094.4(COL7A1):c.3663C>T (p.Ser1221=)
|
rs949443709
|
|
NM_000094.4(COL7A1):c.3664C>T (p.Leu1222=)
|
|
|
NM_000094.4(COL7A1):c.366A>G (p.Ala122=)
|
rs2107801463
|
|
NM_000094.4(COL7A1):c.367A>C (p.Ile123Leu)
|
|
|
NM_000094.4(COL7A1):c.3684T>G (p.Gly1228=)
|
rs2107746484
|
|
NM_000094.4(COL7A1):c.3687G>A (p.Leu1229=)
|
rs2107746461
|
|
NM_000094.4(COL7A1):c.3687G>T (p.Leu1229=)
|
|
|
NM_000094.4(COL7A1):c.3697C>T (p.Leu1233=)
|
|
|
NM_000094.4(COL7A1):c.3699G>A (p.Leu1233=)
|
|
|
NM_000094.4(COL7A1):c.3711C>G (p.Ser1237=)
|
|
|
NM_000094.4(COL7A1):c.3711C>T (p.Ser1237=)
|
|
|
NM_000094.4(COL7A1):c.3717T>C (p.Thr1239=)
|
rs2107746262
|
|
NM_000094.4(COL7A1):c.3720T>C (p.Thr1240=)
|
rs2107746215
|
|
NM_000094.4(COL7A1):c.3723+11G>A
|
|
|
NM_000094.4(COL7A1):c.3723+12G>T
|
|
|
NM_000094.4(COL7A1):c.3723+18G>A
|
|
|
NM_000094.4(COL7A1):c.3724-10A>G
|
rs2107745554
|
|
NM_000094.4(COL7A1):c.3724-14C>T
|
|
|
NM_000094.4(COL7A1):c.3724-15A>G
|
|
|
NM_000094.4(COL7A1):c.3724-5C>T
|
|
|
NM_000094.4(COL7A1):c.3726C>T (p.Pro1242=)
|
|
|
NM_000094.4(COL7A1):c.3728G>A (p.Arg1243Gln)
|
|
|
NM_000094.4(COL7A1):c.3729G>A (p.Arg1243=)
|
|
|
NM_000094.4(COL7A1):c.372C>T (p.Leu124=)
|
|
|
NM_000094.4(COL7A1):c.3735G>A (p.Glu1245=)
|
rs2107745358
|
|
NM_000094.4(COL7A1):c.3744A>C (p.Pro1248=)
|
rs1393537216
|
|
NM_000094.4(COL7A1):c.3759+13C>T
|
|
|
NM_000094.4(COL7A1):c.3759+14A>G
|
|
|
NM_000094.4(COL7A1):c.3759+17G>A
|
|
|
NM_000094.4(COL7A1):c.3759+7G>A
|
rs1560248590
|
|
NM_000094.4(COL7A1):c.3759+8T>G
|
|
|
NM_000094.4(COL7A1):c.3759+9C>A
|
rs2045218850
|
|
NM_000094.4(COL7A1):c.375T>C (p.His125=)
|
rs2107801421
|
|
NM_000094.4(COL7A1):c.3760-14A>G
|
|
|
NM_000094.4(COL7A1):c.3760-17G>A
|
|
|
NM_000094.4(COL7A1):c.3760-18T>C
|
|
|
NM_000094.4(COL7A1):c.3760-19C>G
|
|
|
NM_000094.4(COL7A1):c.3760-4C>T
|
rs2107744398
|
|
NM_000094.4(COL7A1):c.3760-5C>A
|
|
|
NM_000094.4(COL7A1):c.3760-6C>A
|
|
|
NM_000094.4(COL7A1):c.3760-6C>T
|
rs2107744428
|
|
NM_000094.4(COL7A1):c.3783G>A (p.Glu1261=)
|
rs2045209673
|
|
NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr)
|
|
|
NM_000094.4(COL7A1):c.3786+10C>T
|
rs1046501665
|
|
NM_000094.4(COL7A1):c.3786+12T>C
|
|
|
NM_000094.4(COL7A1):c.3786+14C>T
|
|
|
NM_000094.4(COL7A1):c.3786+7G>A
|
|
|
NM_000094.4(COL7A1):c.3786+8C>T
|
|
|
NM_000094.4(COL7A1):c.3787-14A>G
|
|
|
NM_000094.4(COL7A1):c.3787-15G>T
|
|
|
NM_000094.4(COL7A1):c.3787-18A>T
|
|
|
NM_000094.4(COL7A1):c.3787-5C>T
|
|
|
NM_000094.4(COL7A1):c.3787-9C>T
|
|
|
NM_000094.4(COL7A1):c.3789C>T (p.Gly1263=)
|
rs2107743320
|
|
NM_000094.4(COL7A1):c.3792G>A (p.Leu1264=)
|
|
|
NM_000094.4(COL7A1):c.3792G>T (p.Leu1264=)
|
rs2045199171
|
|
NM_000094.4(COL7A1):c.37G>A (p.Gly13Arg)
|
|
|
NM_000094.4(COL7A1):c.3810T>G (p.Pro1270=)
|
rs2107743170
|
|
NM_000094.4(COL7A1):c.3818A>C (p.Asp1273Ala)
|
|
|
NM_000094.4(COL7A1):c.3831+12C>G
|
|
|
NM_000094.4(COL7A1):c.3831+13C>T
|
|
|
NM_000094.4(COL7A1):c.3831+14A>G
|
|
|
NM_000094.4(COL7A1):c.3831+15C>A
|
|
|
NM_000094.4(COL7A1):c.3831+15C>G
|
|
|
NM_000094.4(COL7A1):c.3831+16A>G
|
|
|
NM_000094.4(COL7A1):c.3831+7G>A
|
rs2107742799
|
|
NM_000094.4(COL7A1):c.3831+9C>A
|
|
|
NM_000094.4(COL7A1):c.3832-12A>G
|
|
|
NM_000094.4(COL7A1):c.3832-15G>C
|
|
|
NM_000094.4(COL7A1):c.3832-15_3832-10del
|
rs2107742507
|
|
NM_000094.4(COL7A1):c.3832-6T>C
|
rs972408040
|
|
NM_000094.4(COL7A1):c.3834C>A (p.Gly1278=)
|
rs775369583
|
|
NM_000094.4(COL7A1):c.3849C>G (p.Pro1283=)
|
rs754296949
|
|
NM_000094.4(COL7A1):c.384C>T (p.Asp128=)
|
rs1029389971
|
|
NM_000094.4(COL7A1):c.3852C>A (p.Gly1284=)
|
|
|
NM_000094.4(COL7A1):c.3858G>T (p.Gln1286His)
|
|
|
NM_000094.4(COL7A1):c.3861G>C (p.Gly1287=)
|
rs762497670
|
|
NM_000094.4(COL7A1):c.3861G>T (p.Gly1287=)
|
rs762497670
|
|
NM_000094.4(COL7A1):c.3862C>A (p.Pro1288Thr)
|
|
|
NM_000094.4(COL7A1):c.3862C>T (p.Pro1288Ser)
|
|
|
NM_000094.4(COL7A1):c.3870A>G (p.Gly1290=)
|
rs966201657
|
|
NM_000094.4(COL7A1):c.3876C>T (p.Ala1292=)
|
|
|
NM_000094.4(COL7A1):c.3888C>G (p.Gly1296=)
|
rs375511803
|
|
NM_000094.4(COL7A1):c.3891G>A (p.Glu1297=)
|
|
|
NM_000094.4(COL7A1):c.3894+10G>A
|
|
|
NM_000094.4(COL7A1):c.3894+14C>T
|
|
|
NM_000094.4(COL7A1):c.3894+15del
|
rs2107741566
|
|
NM_000094.4(COL7A1):c.3894+16A>G
|
|
|
NM_000094.4(COL7A1):c.3894+19G>A
|
|
|
NM_000094.4(COL7A1):c.3894+19G>C
|
|
|
NM_000094.4(COL7A1):c.3894+7G>A
|
rs1191102186
|
|
NM_000094.4(COL7A1):c.3894+7G>C
|
|
|
NM_000094.4(COL7A1):c.3894+8_3894+9del
|
|
|
NM_000094.4(COL7A1):c.3895-15T>C
|
|
|
NM_000094.4(COL7A1):c.3895-5C>T
|
|
|
NM_000094.4(COL7A1):c.3909A>C (p.Ala1303=)
|
|
|
NM_000094.4(COL7A1):c.3924C>G (p.Gly1308=)
|
|
|
NM_000094.4(COL7A1):c.3933C>T (p.Gly1311=)
|
rs2107738944
|
|
NM_000094.4(COL7A1):c.3935G>A (p.Arg1312His)
|
|
|
NM_000094.4(COL7A1):c.3939C>G (p.Ala1313=)
|
rs141825319
|
|
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=)
|
rs141825319
|
|
NM_000094.4(COL7A1):c.3942G>C (p.Gly1314=)
|
|
|
NM_000094.4(COL7A1):c.3951G>C (p.Gly1317=)
|
|
|
NM_000094.4(COL7A1):c.3963C>G (p.Ala1321=)
|
|
|
NM_000094.4(COL7A1):c.3963C>T (p.Ala1321=)
|
|
|
NM_000094.4(COL7A1):c.3972A>G (p.Leu1324=)
|
|
|
NM_000094.4(COL7A1):c.3975+10C>T
|
|
|
NM_000094.4(COL7A1):c.3975+12T>A
|
|
|
NM_000094.4(COL7A1):c.3975+13T>C
|
|
|
NM_000094.4(COL7A1):c.3975+14G>T
|
|
|
NM_000094.4(COL7A1):c.3975+20C>T
|
|
|
NM_000094.4(COL7A1):c.3975+9G>A
|
|
|
NM_000094.4(COL7A1):c.3976-13C>T
|
|
|
NM_000094.4(COL7A1):c.3976-6T>C
|
rs2107738008
|
|
NM_000094.4(COL7A1):c.3976-7T>C
|
|
|
NM_000094.4(COL7A1):c.3978C>G (p.Gly1326=)
|
rs756905816
|
|
NM_000094.4(COL7A1):c.3984A>C (p.Pro1328=)
|
rs2107737918
|
|
NM_000094.4(COL7A1):c.398C>A (p.Pro133His)
|
|
|
NM_000094.4(COL7A1):c.399C>T (p.Pro133=)
|
|
|
NM_000094.4(COL7A1):c.4001G>A (p.Arg1334His)
|
rs759297874
|
|
NM_000094.4(COL7A1):c.4001G>T (p.Arg1334Leu)
|
|
|
NM_000094.4(COL7A1):c.4002T>G (p.Arg1334=)
|
|
|
NM_000094.4(COL7A1):c.4011+12T>A
|
|
|
NM_000094.4(COL7A1):c.4011+14C>T
|
|
|
NM_000094.4(COL7A1):c.4011+15C>T
|
|
|
NM_000094.4(COL7A1):c.4011+20T>A
|
|
|
NM_000094.4(COL7A1):c.4011+8G>A
|
rs1377285295
|
|
NM_000094.4(COL7A1):c.4011+9C>G
|
rs1283623502
|
|
NM_000094.4(COL7A1):c.4011+9C>T
|
rs1283623502
|
|
NM_000094.4(COL7A1):c.4012-11T>C
|
|
|
NM_000094.4(COL7A1):c.4012-16T>C
|
|
|
NM_000094.4(COL7A1):c.4012-5C>T
|
|
|
NM_000094.4(COL7A1):c.4017G>A (p.Glu1339=)
|
|
|
NM_000094.4(COL7A1):c.4032C>G (p.Gly1344=)
|
rs2107736563
|
|
NM_000094.4(COL7A1):c.4035A>G (p.Pro1345=)
|
|
|
NM_000094.4(COL7A1):c.4036A>G (p.Lys1346Glu)
|
|
|
NM_000094.4(COL7A1):c.4038G>A (p.Lys1346=)
|
|
|
NM_000094.4(COL7A1):c.403C>T (p.Leu135=)
|
|
|
NM_000094.4(COL7A1):c.4041G>A (p.Gly1347=)
|
|
|
NM_000094.4(COL7A1):c.4044G>A (p.Glu1348=)
|
|
|
NM_000094.4(COL7A1):c.4047+11G>C
|
|
|
NM_000094.4(COL7A1):c.4047+13G>A
|
|
|
NM_000094.4(COL7A1):c.4047+14G>T
|
|
|
NM_000094.4(COL7A1):c.4047+16A>C
|
|
|
NM_000094.4(COL7A1):c.4047+18G>A
|
|
|
NM_000094.4(COL7A1):c.4047+7G>A
|
rs2045099383
|
|
NM_000094.4(COL7A1):c.4047+8A>C
|
rs2107736260
|
|
NM_000094.4(COL7A1):c.4047+9A>C
|
|
|
NM_000094.4(COL7A1):c.4048-10G>A
|
|
|
NM_000094.4(COL7A1):c.4048-14C>T
|
|
|
NM_000094.4(COL7A1):c.4048-16C>T
|
|
|
NM_000094.4(COL7A1):c.4048-4A>T
|
|
|
NM_000094.4(COL7A1):c.4048-8C>G
|
|
|
NM_000094.4(COL7A1):c.4050G>C (p.Gly1350=)
|
|
|
NM_000094.4(COL7A1):c.4050G>T (p.Gly1350=)
|
|
|
NM_000094.4(COL7A1):c.4059A>G (p.Gly1353=)
|
|
|
NM_000094.4(COL7A1):c.4065C>T (p.Val1355=)
|
|
|
NM_000094.4(COL7A1):c.407C>T (p.Ala136Val)
|
|
|
NM_000094.4(COL7A1):c.4086G>A (p.Gly1362=)
|
|
|
NM_000094.4(COL7A1):c.4086G>T (p.Gly1362=)
|
|
|
NM_000094.4(COL7A1):c.408C>A (p.Ala136=)
|
|
|
NM_000094.4(COL7A1):c.408C>G (p.Ala136=)
|
|
|
NM_000094.4(COL7A1):c.4095G>A (p.Gly1365=)
|
rs1326680697
|
|
NM_000094.4(COL7A1):c.4096C>T (p.Arg1366Trp)
|
|
|
NM_000094.4(COL7A1):c.4097G>A (p.Arg1366Gln)
|
|
|
NM_000094.4(COL7A1):c.409C>A (p.Arg137=)
|
|
|
NM_000094.4(COL7A1):c.4110T>G (p.Pro1370=)
|
|
|
NM_000094.4(COL7A1):c.4116A>G (p.Pro1372=)
|
rs2107734685
|
|
NM_000094.4(COL7A1):c.4119+19G>A
|
|
|
NM_000094.4(COL7A1):c.4119+7G>A
|
rs372331035
|
|
NM_000094.4(COL7A1):c.4119+9A>C
|
rs766782830
|
|
NM_000094.4(COL7A1):c.4120-10C>T
|
|
|
NM_000094.4(COL7A1):c.4120-13T>A
|
|
|
NM_000094.4(COL7A1):c.4120-17T>C
|
|
|
NM_000094.4(COL7A1):c.4120-19A>G
|
|
|
NM_000094.4(COL7A1):c.4120-4T>A
|
|
|
NM_000094.4(COL7A1):c.4120-5A>C
|
rs563960487
|
|
NM_000094.4(COL7A1):c.4120-5A>G
|
rs563960487
|
|
NM_000094.4(COL7A1):c.4120-6C>A
|
rs1279482080
|
|
NM_000094.4(COL7A1):c.4120-6C>T
|
rs1279482080
|
|
NM_000094.4(COL7A1):c.4120-9C>T
|
|
|
NM_000094.4(COL7A1):c.4122C>A (p.Gly1374=)
|
|
|
NM_000094.4(COL7A1):c.4122C>G (p.Gly1374=)
|
rs2045052923
|
|
NM_000094.4(COL7A1):c.4125C>A (p.Pro1375=)
|
rs2045052188
|
|
NM_000094.4(COL7A1):c.4125C>G (p.Pro1375=)
|
rs2045052188
|
|
NM_000094.4(COL7A1):c.4137T>C (p.Arg1379=)
|
|
|
NM_000094.4(COL7A1):c.4140A>C (p.Gly1380=)
|
|
|
NM_000094.4(COL7A1):c.4144C>T (p.Leu1382=)
|
|
|
NM_000094.4(COL7A1):c.414T>C (p.Pro138=)
|
rs2107801140
|
|
NM_000094.4(COL7A1):c.4152C>T (p.Asp1384=)
|
|
|
NM_000094.4(COL7A1):c.4163G>A (p.Arg1388His)
|
|
|
NM_000094.4(COL7A1):c.4164T>C (p.Arg1388=)
|
rs2107733172
|
|
NM_000094.4(COL7A1):c.4167C>T (p.Gly1389=)
|
rs951832325
|
|
NM_000094.4(COL7A1):c.4172C>T (p.Pro1391Leu)
|
|
|
NM_000094.4(COL7A1):c.4173A>G (p.Pro1391=)
|
rs2107733026
|
|
NM_000094.4(COL7A1):c.4176G>C (p.Gly1392=)
|
rs1353507988
|
|
NM_000094.4(COL7A1):c.417T>G (p.Gly139=)
|
|
|
NM_000094.4(COL7A1):c.4185A>G (p.Gly1395=)
|
|
|
NM_000094.4(COL7A1):c.4193T>G (p.Met1398Arg)
|
|
|
NM_000094.4(COL7A1):c.4197+11C>T
|
|
|
NM_000094.4(COL7A1):c.4197+15A>T
|
rs373470935
|
|
NM_000094.4(COL7A1):c.4197+18G>A
|
|
|
NM_000094.4(COL7A1):c.4197+9C>T
|
|
|
NM_000094.4(COL7A1):c.4198-13A>G
|
|
|
NM_000094.4(COL7A1):c.4198-13A>T
|
|
|
NM_000094.4(COL7A1):c.4198-17C>T
|
|
|
NM_000094.4(COL7A1):c.4203C>T (p.Asp1401=)
|
|
|
NM_000094.4(COL7A1):c.420C>A (p.Val140=)
|
|
|
NM_000094.4(COL7A1):c.420C>G (p.Val140=)
|
rs750925861
|
|
NM_000094.4(COL7A1):c.4222C>A (p.Arg1408=)
|
rs143126677
|
|
NM_000094.4(COL7A1):c.4224+10G>A
|
|
|
NM_000094.4(COL7A1):c.4224+13C>T
|
|
|
NM_000094.4(COL7A1):c.4224+15G>A
|
|
|
NM_000094.4(COL7A1):c.4224+16G>A
|
|
|
NM_000094.4(COL7A1):c.4224+16G>C
|
|
|
NM_000094.4(COL7A1):c.4224+17T>G
|
|
|
NM_000094.4(COL7A1):c.4224+19G>A
|
|
|
NM_000094.4(COL7A1):c.4224+7G>A
|
rs2107730891
|
|
NM_000094.4(COL7A1):c.4224+9G>A
|
rs1356035288
|
|
NM_000094.4(COL7A1):c.4225-11T>G
|
|
|
NM_000094.4(COL7A1):c.4225-12G>A
|
|
|
NM_000094.4(COL7A1):c.4225-14_4225-12del
|
|
|
NM_000094.4(COL7A1):c.4225-20G>A
|
|
|
NM_000094.4(COL7A1):c.4225-7C>T
|
rs2107730242
|
|
NM_000094.4(COL7A1):c.4225-8T>C
|
rs2107730269
|
|
NM_000094.4(COL7A1):c.4227T>C (p.Gly1409=)
|
|
|
NM_000094.4(COL7A1):c.4230C>A (p.Pro1410=)
|
rs1391811712
|
|
NM_000094.4(COL7A1):c.4238C>G (p.Pro1413Arg)
|
|
|
NM_000094.4(COL7A1):c.426+10A>G
|
rs2107800976
|
|
NM_000094.4(COL7A1):c.426+14C>G
|
|
|
NM_000094.4(COL7A1):c.426+15T>C
|
rs2107800926
|
|
NM_000094.4(COL7A1):c.426+19A>G
|
|
|
NM_000094.4(COL7A1):c.426+20T>C
|
|
|
NM_000094.4(COL7A1):c.426+7C>G
|
rs2107801028
|
|
NM_000094.4(COL7A1):c.426+8C>T
|
rs2107800999
|
|
NM_000094.4(COL7A1):c.4263G>A (p.Gly1421=)
|
|
|
NM_000094.4(COL7A1):c.4266G>A (p.Glu1422=)
|
|
|
NM_000094.4(COL7A1):c.4269T>C (p.Pro1423=)
|
rs2107729806
|
|
NM_000094.4(COL7A1):c.427-15C>A
|
rs201327901
|
|
NM_000094.4(COL7A1):c.427-15C>T
|
|
|
NM_000094.4(COL7A1):c.4275G>A (p.Leu1425=)
|
rs774486289
|
|
NM_000094.4(COL7A1):c.4278+16G>T
|
|
|
NM_000094.4(COL7A1):c.4278+8G>C
|
rs2107729612
|
|
NM_000094.4(COL7A1):c.4278+8del
|
rs764408920
|
|
NM_000094.4(COL7A1):c.4279-12A>C
|
|
|
NM_000094.4(COL7A1):c.4279-15C>T
|
|
|
NM_000094.4(COL7A1):c.4279-17T>C
|
|
|
NM_000094.4(COL7A1):c.4279-18T>C
|
|
|
NM_000094.4(COL7A1):c.4279-4del
|
rs1467949571
|
|
NM_000094.4(COL7A1):c.4279-5C>T
|
|
|
NM_000094.4(COL7A1):c.4279-7T>C
|
rs2044975790
|
|
NM_000094.4(COL7A1):c.4290A>G (p.Gly1430=)
|
|
|
NM_000094.4(COL7A1):c.4296T>G (p.Pro1432=)
|
rs2107728658
|
|
NM_000094.4(COL7A1):c.4299A>T (p.Gly1433=)
|
|
|
NM_000094.4(COL7A1):c.429C>T (p.Val143=)
|
|
|
NM_000094.4(COL7A1):c.4332A>G (p.Lys1444=)
|
|
|
NM_000094.4(COL7A1):c.4341+16del
|
|
|
NM_000094.4(COL7A1):c.4341+17G>C
|
|
|
NM_000094.4(COL7A1):c.4341+9G>T
|
rs2107728201
|
|
NM_000094.4(COL7A1):c.4341_4341+9dup
|
|
|
NM_000094.4(COL7A1):c.4342-17G>C
|
|
|
NM_000094.4(COL7A1):c.4342-18C>G
|
|
|
NM_000094.4(COL7A1):c.4342-18C>T
|
|
|
NM_000094.4(COL7A1):c.4342-20C>T
|
|
|
NM_000094.4(COL7A1):c.4342-5T>C
|
|
|
NM_000094.4(COL7A1):c.4342-7C>T
|
rs1575464279
|
|
NM_000094.4(COL7A1):c.4344T>A (p.Gly1448=)
|
rs756137791
|
|
NM_000094.4(COL7A1):c.4355A>T (p.Asp1452Val)
|
|
|
NM_000094.4(COL7A1):c.4371C>T (p.Leu1457=)
|
rs1395386523
|
|
NM_000094.4(COL7A1):c.4374A>G (p.Pro1458=)
|
|
|
NM_000094.4(COL7A1):c.4374A>T (p.Pro1458=)
|
|
|
NM_000094.4(COL7A1):c.4386G>T (p.Gly1462=)
|
|
|
NM_000094.4(COL7A1):c.4389T>C (p.Ser1463=)
|
rs1419233749
|
|
NM_000094.4(COL7A1):c.4392G>C (p.Pro1464=)
|
|
|
NM_000094.4(COL7A1):c.4401+10G>A
|
|
|
NM_000094.4(COL7A1):c.4401+13G>A
|
|
|
NM_000094.4(COL7A1):c.4401+13G>T
|
|
|
NM_000094.4(COL7A1):c.4401+16A>C
|
|
|
NM_000094.4(COL7A1):c.4401+18G>A
|
|
|
NM_000094.4(COL7A1):c.4402-17A>C
|
|
|
NM_000094.4(COL7A1):c.4402-20C>T
|
|
|
NM_000094.4(COL7A1):c.4408C>T (p.Arg1470Trp)
|
rs769297158
|
|
NM_000094.4(COL7A1):c.4414C>A (p.Pro1472Thr)
|
rs775987562
|
|
NM_000094.4(COL7A1):c.4434C>T (p.Pro1478=)
|
rs2107725976
|
|
NM_000094.4(COL7A1):c.4437+12T>C
|
|
|
NM_000094.4(COL7A1):c.4437+14G>A
|
rs756652262
|
|
NM_000094.4(COL7A1):c.4437+14G>T
|
|
|
NM_000094.4(COL7A1):c.4437+16G>A
|
|
|
NM_000094.4(COL7A1):c.4437+9C>A
|
|
|
NM_000094.4(COL7A1):c.4438-10C>G
|
|
|
NM_000094.4(COL7A1):c.4438-10C>T
|
rs2107724310
|
|
NM_000094.4(COL7A1):c.4438-12C>G
|
rs1379540901
|
|
NM_000094.4(COL7A1):c.4438-14C>T
|
|
|
NM_000094.4(COL7A1):c.4438-18C>T
|
|
|
NM_000094.4(COL7A1):c.4438-8C>G
|
|
|
NM_000094.4(COL7A1):c.4438-8C>T
|
rs2044905366
|
|
NM_000094.4(COL7A1):c.4444C>T (p.Arg1482Trp)
|
|
|
NM_000094.4(COL7A1):c.4446G>A (p.Arg1482=)
|
rs556116285
|
|
NM_000094.4(COL7A1):c.4458G>A (p.Gly1486=)
|
rs1370750972
|
|
NM_000094.4(COL7A1):c.4461C>G (p.Pro1487=)
|
|
|
NM_000094.4(COL7A1):c.4479G>A (p.Glu1493=)
|
|
|
NM_000094.4(COL7A1):c.4482+10A>G
|
|
|
NM_000094.4(COL7A1):c.4482+11C>T
|
|
|
NM_000094.4(COL7A1):c.4482+14G>C
|
|
|
NM_000094.4(COL7A1):c.4482+16G>C
|
|
|
NM_000094.4(COL7A1):c.4482+17G>A
|
|
|
NM_000094.4(COL7A1):c.4482+19G>T
|
|
|
NM_000094.4(COL7A1):c.4482+7G>A
|
rs1469985915
|
|
NM_000094.4(COL7A1):c.4482+9A>G
|
|
|
NM_000094.4(COL7A1):c.4483-11T>A
|
|
|
NM_000094.4(COL7A1):c.4483-16T>A
|
|
|
NM_000094.4(COL7A1):c.4483-17C>G
|
rs1352094463
|
|
NM_000094.4(COL7A1):c.4483-17C>T
|
|
|
NM_000094.4(COL7A1):c.4483-18dup
|
rs771985723
|
|
NM_000094.4(COL7A1):c.4483-8T>C
|
rs2107723219
|
|
NM_000094.4(COL7A1):c.4486G>A (p.Glu1496Lys)
|
|
|
NM_000094.4(COL7A1):c.4489C>T (p.Arg1497Cys)
|
|
|
NM_000094.4(COL7A1):c.4491T>G (p.Arg1497=)
|
|
|
NM_000094.4(COL7A1):c.4497C>A (p.Pro1499=)
|
rs777908742
|
|
NM_000094.4(COL7A1):c.4497C>T (p.Pro1499=)
|
rs777908742
|
|
NM_000094.4(COL7A1):c.4503C>T (p.Gly1501=)
|
|
|
NM_000094.4(COL7A1):c.4506A>T (p.Pro1502=)
|
rs2107722976
|
|
NM_000094.4(COL7A1):c.4516C>A (p.Arg1506=)
|
rs781358537
|
|
NM_000094.4(COL7A1):c.4518+11T>G
|
|
|
NM_000094.4(COL7A1):c.4518+14C>A
|
|
|
NM_000094.4(COL7A1):c.4518+16G>C
|
|
|
NM_000094.4(COL7A1):c.4518+18A>G
|
|
|
NM_000094.4(COL7A1):c.4518+19A>G
|
|
|
NM_000094.4(COL7A1):c.4518+20T>C
|
|
|
NM_000094.4(COL7A1):c.4518+7_4518+8del
|
rs904593332
|
|
NM_000094.4(COL7A1):c.4518+8C>T
|
rs1219303545
|
|
NM_000094.4(COL7A1):c.4519-15C>T
|
|
|
NM_000094.4(COL7A1):c.4519-16C>T
|
|
|
NM_000094.4(COL7A1):c.4519-20C>T
|
|
|
NM_000094.4(COL7A1):c.4519-4C>A
|
|
|
NM_000094.4(COL7A1):c.4519-7C>T
|
|
|
NM_000094.4(COL7A1):c.4519-8T>C
|
|
|
NM_000094.4(COL7A1):c.4519-9C>T
|
rs1575461480
|
|
NM_000094.4(COL7A1):c.4521G>A (p.Gly1507=)
|
rs747087195
|
|
NM_000094.4(COL7A1):c.4530G>A (p.Gly1510=)
|
rs2107720235
|
|
NM_000094.4(COL7A1):c.453G>A (p.Lys151=)
|
|
|
NM_000094.4(COL7A1):c.4541G>A (p.Arg1514His)
|
|
|
NM_000094.4(COL7A1):c.4542T>G (p.Arg1514=)
|
rs2107720113
|
|
NM_000094.4(COL7A1):c.4563+17G>A
|
|
|
NM_000094.4(COL7A1):c.4564-10C>G
|
rs2044839155
|
|
NM_000094.4(COL7A1):c.4564-12C>A
|
|
|
NM_000094.4(COL7A1):c.4564-14T>G
|
|
|
NM_000094.4(COL7A1):c.4564-15T>C
|
|
|
NM_000094.4(COL7A1):c.4564-17A>T
|
|
|
NM_000094.4(COL7A1):c.4564-18C>A
|
|
|
NM_000094.4(COL7A1):c.4564-18C>T
|
|
|
NM_000094.4(COL7A1):c.4564-9T>C
|
rs2044838891
|
|
NM_000094.4(COL7A1):c.4568C>T (p.Pro1523Leu)
|
|
|
NM_000094.4(COL7A1):c.4569A>G (p.Pro1523=)
|
|
|
NM_000094.4(COL7A1):c.4586G>T (p.Arg1529Leu)
|
|
|
NM_000094.4(COL7A1):c.4599+10C>T
|
rs2107718768
|
|
NM_000094.4(COL7A1):c.4599+11G>A
|
|
|
NM_000094.4(COL7A1):c.4599+11G>C
|
|
|
NM_000094.4(COL7A1):c.4599+15G>A
|
|
|
NM_000094.4(COL7A1):c.4599+17G>A
|
|
|
NM_000094.4(COL7A1):c.4599+19G>A
|
|
|
NM_000094.4(COL7A1):c.4599+19G>C
|
|
|
NM_000094.4(COL7A1):c.4599+20T>C
|
|
|
NM_000094.4(COL7A1):c.4599+7C>T
|
|
|
NM_000094.4(COL7A1):c.45G>A (p.Leu15=)
|
|
|
NM_000094.4(COL7A1):c.4600-10C>G
|
rs1011387386
|
|
NM_000094.4(COL7A1):c.4600-10C>T
|
rs1011387386
|
|
NM_000094.4(COL7A1):c.4600-12C>G
|
|
|
NM_000094.4(COL7A1):c.4600-12C>T
|
|
|
NM_000094.4(COL7A1):c.4600-7T>C
|
rs1575460597
|
|
NM_000094.4(COL7A1):c.4600-8C>T
|
rs2107717888
|
|
NM_000094.4(COL7A1):c.4600-9T>A
|
|
|
NM_000094.4(COL7A1):c.4605G>A (p.Glu1535=)
|
|
|
NM_000094.4(COL7A1):c.4608T>A (p.Pro1536=)
|
|
|
NM_000094.4(COL7A1):c.4629A>C (p.Ala1543=)
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|
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NM_000094.4(COL7A1):c.462C>T (p.Asp154=)
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NM_000094.4(COL7A1):c.4632G>A (p.Val1544=)
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NM_000094.4(COL7A1):c.4635+16A>C
|
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NM_000094.4(COL7A1):c.4635+16A>G
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NM_000094.4(COL7A1):c.4635+9C>A
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NM_000094.4(COL7A1):c.4636-13T>G
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NM_000094.4(COL7A1):c.4636-14C>T
|
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NM_000094.4(COL7A1):c.4636-18T>C
|
rs2107715285
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NM_000094.4(COL7A1):c.4636-19C>G
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NM_000094.4(COL7A1):c.4636-19C>T
|
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NM_000094.4(COL7A1):c.4636-8G>C
|
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NM_000094.4(COL7A1):c.463C>T (p.Leu155=)
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NM_000094.4(COL7A1):c.4668+11T>C
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NM_000094.4(COL7A1):c.4668+13T>C
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NM_000094.4(COL7A1):c.4668+14G>A
|
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NM_000094.4(COL7A1):c.4668+17G>A
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NM_000094.4(COL7A1):c.4669-14T>C
|
rs2107714371
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NM_000094.4(COL7A1):c.4669-7C>A
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NM_000094.4(COL7A1):c.4669-7C>T
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NM_000094.4(COL7A1):c.4669-8A>G
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NM_000094.4(COL7A1):c.4669-9C>T
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NM_000094.4(COL7A1):c.4683C>A (p.Pro1561=)
|
rs141566570
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NM_000094.4(COL7A1):c.468G>A (p.Val156=)
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rs973589872
|
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NM_000094.4(COL7A1):c.4695A>G (p.Arg1565=)
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NM_000094.4(COL7A1):c.4713A>G (p.Gln1571=)
|
rs766402307
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NM_000094.4(COL7A1):c.4720C>A (p.Arg1574=)
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rs773815805
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NM_000094.4(COL7A1):c.4722+12G>A
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NM_000094.4(COL7A1):c.4722+14A>T
|
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NM_000094.4(COL7A1):c.4722+15G>A
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NM_000094.4(COL7A1):c.4722+20T>C
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NM_000094.4(COL7A1):c.4722+20T>G
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NM_000094.4(COL7A1):c.4722+9A>G
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NM_000094.4(COL7A1):c.4723-14C>T
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NM_000094.4(COL7A1):c.4723-17T>C
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NM_000094.4(COL7A1):c.4723-18T>C
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NM_000094.4(COL7A1):c.4723-5C>T
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NM_000094.4(COL7A1):c.4723-6C>T
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NM_000094.4(COL7A1):c.4731C>A (p.Pro1577=)
|
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NM_000094.4(COL7A1):c.4731C>T (p.Pro1577=)
|
rs562521065
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NM_000094.4(COL7A1):c.4737G>A (p.Leu1579=)
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NM_000094.4(COL7A1):c.4752C>T (p.Asp1584=)
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NM_000094.4(COL7A1):c.4761C>G (p.Pro1587=)
|
rs2107713294
|
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NM_000094.4(COL7A1):c.4779C>A (p.Asp1593Glu)
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NM_000094.4(COL7A1):c.4782+15G>A
|
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NM_000094.4(COL7A1):c.4782+9A>G
|
rs369635501
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NM_000094.4(COL7A1):c.4783-12T>G
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NM_000094.4(COL7A1):c.4783-16C>G
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NM_000094.4(COL7A1):c.4783-16C>T
|
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NM_000094.4(COL7A1):c.4783-17C>A
|
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NM_000094.4(COL7A1):c.4783-17C>G
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NM_000094.4(COL7A1):c.4783-18C>G
|
rs2044755155
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NM_000094.4(COL7A1):c.4783-20C>G
|
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NM_000094.4(COL7A1):c.4783-9C>T
|
rs2107712643
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NM_000094.4(COL7A1):c.4803C>A (p.Gly1601=)
|
rs768574749
|
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NM_000094.4(COL7A1):c.4804A>C (p.Arg1602=)
|
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NM_000094.4(COL7A1):c.480C>G (p.Ala160=)
|
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NM_000094.4(COL7A1):c.4815C>A (p.Pro1605=)
|
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NM_000094.4(COL7A1):c.4818+9C>A
|
rs2044751655
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NM_000094.4(COL7A1):c.4819-12C>T
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NM_000094.4(COL7A1):c.4819-13G>T
|
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NM_000094.4(COL7A1):c.4819-16C>T
|
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NM_000094.4(COL7A1):c.4819-18C>T
|
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NM_000094.4(COL7A1):c.4819-4A>G
|
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NM_000094.4(COL7A1):c.4830G>A (p.Gly1610=)
|
rs2107711746
|
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NM_000094.4(COL7A1):c.4851C>T (p.Asp1617=)
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NM_000094.4(COL7A1):c.4854T>C (p.Pro1618=)
|
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NM_000094.4(COL7A1):c.4857G>A (p.Gly1619=)
|
rs1308893062
|
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NM_000094.4(COL7A1):c.4866C>G (p.Gly1622=)
|
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NM_000094.4(COL7A1):c.4866C>T (p.Gly1622=)
|
rs371660856
|
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NM_000094.4(COL7A1):c.4869C>T (p.Pro1623=)
|
rs1575457693
|
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NM_000094.4(COL7A1):c.486G>A (p.Arg162=)
|
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NM_000094.4(COL7A1):c.4872A>G (p.Pro1624=)
|
rs2107711446
|
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NM_000094.4(COL7A1):c.4895G>A (p.Arg1632Gln)
|
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NM_000094.4(COL7A1):c.489G>A (p.Leu163=)
|
rs2045850181
|
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NM_000094.4(COL7A1):c.4900-10T>C
|
|
|
NM_000094.4(COL7A1):c.4900-11A>G
|
|
|
NM_000094.4(COL7A1):c.4900-12_4900-11insT
|
|
|
NM_000094.4(COL7A1):c.4900-5C>T
|
rs201010613
|
|
NM_000094.4(COL7A1):c.4900-9G>T
|
rs2107710568
|
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NM_000094.4(COL7A1):c.4917A>G (p.Lys1639=)
|
rs1451206371
|
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NM_000094.4(COL7A1):c.4920T>C (p.Gly1640=)
|
rs2107710413
|
|
NM_000094.4(COL7A1):c.4929T>A (p.Gly1643=)
|
rs2107710311
|
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NM_000094.4(COL7A1):c.4935+10C>A
|
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NM_000094.4(COL7A1):c.4935+12T>C
|
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|
NM_000094.4(COL7A1):c.4935+14C>G
|
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NM_000094.4(COL7A1):c.4935+18del
|
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NM_000094.4(COL7A1):c.4935+20T>G
|
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NM_000094.4(COL7A1):c.4935+9C>T
|
rs1051598364
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NM_000094.4(COL7A1):c.4936-10C>G
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NM_000094.4(COL7A1):c.4936-12C>G
|
|
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NM_000094.4(COL7A1):c.4936-16_4936-15del
|
rs1560232701
|
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NM_000094.4(COL7A1):c.4936-4C>T
|
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NM_000094.4(COL7A1):c.4944G>T (p.Pro1648=)
|
|
|
NM_000094.4(COL7A1):c.4950G>A (p.Leu1650=)
|
rs768732450
|
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NM_000094.4(COL7A1):c.4956A>C (p.Gly1652=)
|
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NM_000094.4(COL7A1):c.495G>T (p.Gly165=)
|
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NM_000094.4(COL7A1):c.4962A>G (p.Ala1654=)
|
|
|
NM_000094.4(COL7A1):c.4965C>A (p.Gly1655=)
|
rs1560232515
|
|
NM_000094.4(COL7A1):c.4968G>A (p.Glu1656=)
|
rs779192809
|
|
NM_000094.4(COL7A1):c.4980+13A>G
|
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NM_000094.4(COL7A1):c.4980+16G>C
|
rs750246078
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NM_000094.4(COL7A1):c.4980+20A>T
|
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NM_000094.4(COL7A1):c.4980+9T>G
|
|
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NM_000094.4(COL7A1):c.4981-10C>T
|
rs2107707271
|
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NM_000094.4(COL7A1):c.4981-12T>C
|
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NM_000094.4(COL7A1):c.4981-19G>A
|
|
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NM_000094.4(COL7A1):c.4981-6T>C
|
rs2107707230
|
|
NM_000094.4(COL7A1):c.4986A>C (p.Ala1662=)
|
|
|
NM_000094.4(COL7A1):c.4998G>A (p.Arg1666=)
|
|
|
NM_000094.4(COL7A1):c.5007G>A (p.Val1669=)
|
|
|
NM_000094.4(COL7A1):c.5013A>G (p.Glu1671=)
|
|
|
NM_000094.4(COL7A1):c.501G>A (p.Gly167=)
|
rs2107800176
|
|
NM_000094.4(COL7A1):c.5043T>C (p.Asp1681=)
|
|
|
NM_000094.4(COL7A1):c.5048G>A (p.Arg1683Gln)
|
|
|
NM_000094.4(COL7A1):c.5049A>C (p.Arg1683=)
|
|
|
NM_000094.4(COL7A1):c.5052+15_5052+16del
|
|
|
NM_000094.4(COL7A1):c.5052+19C>T
|
|
|
NM_000094.4(COL7A1):c.5052+8C>T
|
rs763445374
|
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NM_000094.4(COL7A1):c.5053-10C>A
|
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NM_000094.4(COL7A1):c.5053-12G>T
|
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NM_000094.4(COL7A1):c.5053-14C>T
|
|
|
NM_000094.4(COL7A1):c.5053-15C>T
|
rs2107705075
|
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NM_000094.4(COL7A1):c.5053-4G>A
|
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|
NM_000094.4(COL7A1):c.5053-9T>C
|
|
|
NM_000094.4(COL7A1):c.5058C>G (p.Ser1686Arg)
|
|
|
NM_000094.4(COL7A1):c.5058C>T (p.Ser1686=)
|
rs144700737
|
|
NM_000094.4(COL7A1):c.5061T>C (p.Pro1687=)
|
|
|
NM_000094.4(COL7A1):c.5067A>G (p.Ser1689=)
|
rs2107704878
|
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NM_000094.4(COL7A1):c.5091G>A (p.Gly1697=)
|
|
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NM_000094.4(COL7A1):c.5097+10del
|
|
|
NM_000094.4(COL7A1):c.5097+13G>T
|
rs2107704480
|
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NM_000094.4(COL7A1):c.5097+14G>A
|
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NM_000094.4(COL7A1):c.5097+9G>T
|
rs2107704574
|
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NM_000094.4(COL7A1):c.5098-10C>A
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NM_000094.4(COL7A1):c.5098-15C>A
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NM_000094.4(COL7A1):c.5098-16T>C
|
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NM_000094.4(COL7A1):c.5098-20A>C
|
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NM_000094.4(COL7A1):c.5098-20A>G
|
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|
NM_000094.4(COL7A1):c.5098-5C>G
|
|
|
NM_000094.4(COL7A1):c.5103C>T (p.Pro1701=)
|
rs1036738746
|
|
NM_000094.4(COL7A1):c.5120G>A (p.Arg1707Gln)
|
|
|
NM_000094.4(COL7A1):c.5121G>C (p.Arg1707=)
|
rs2107702844
|
|
NM_000094.4(COL7A1):c.5121G>T (p.Arg1707=)
|
|
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NM_000094.4(COL7A1):c.5124+12G>A
|
|
|
NM_000094.4(COL7A1):c.5124+12G>C
|
rs780294370
|
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NM_000094.4(COL7A1):c.5124+16G>A
|
|
|
NM_000094.4(COL7A1):c.5124+17G>A
|
|
|
NM_000094.4(COL7A1):c.5124+7G>A
|
rs1252390554
|
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NM_000094.4(COL7A1):c.5125-10C>G
|
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|
NM_000094.4(COL7A1):c.5125-14C>A
|
|
|
NM_000094.4(COL7A1):c.5125-16G>T
|
|
|
NM_000094.4(COL7A1):c.5125-18T>A
|
|
|
NM_000094.4(COL7A1):c.5125-18del
|
|
|
NM_000094.4(COL7A1):c.5125-4A>C
|
rs2044605832
|
|
NM_000094.4(COL7A1):c.5125-4A>G
|
rs2044605832
|
|
NM_000094.4(COL7A1):c.5125-5C>A
|
rs371686183
|
|
NM_000094.4(COL7A1):c.5125-5C>G
|
rs371686183
|
|
NM_000094.4(COL7A1):c.5125-5C>T
|
rs371686183
|
|
NM_000094.4(COL7A1):c.5125-7C>T
|
|
|
NM_000094.4(COL7A1):c.5125-9C>T
|
|
|
NM_000094.4(COL7A1):c.5154+13G>A
|
|
|
NM_000094.4(COL7A1):c.5154+14T>G
|
|
|
NM_000094.4(COL7A1):c.5154+17G>T
|
|
|
NM_000094.4(COL7A1):c.5154+19G>A
|
|
|
NM_000094.4(COL7A1):c.5154+19G>C
|
|
|
NM_000094.4(COL7A1):c.5154+7G>A
|
rs1435815535
|
|
NM_000094.4(COL7A1):c.5155-12T>C
|
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NM_000094.4(COL7A1):c.5155-20C>T
|
|
|
NM_000094.4(COL7A1):c.5155-6C>T
|
|
|
NM_000094.4(COL7A1):c.5155-9C>T
|
|
|
NM_000094.4(COL7A1):c.515C>T (p.Ala172Val)
|
|
|
NM_000094.4(COL7A1):c.5160G>A (p.Glu1720=)
|
rs1307056880
|
|
NM_000094.4(COL7A1):c.5163T>C (p.Pro1721=)
|
|
|
NM_000094.4(COL7A1):c.516T>C (p.Ala172=)
|
rs2107800052
|
|
NM_000094.4(COL7A1):c.5171G>A (p.Arg1724His)
|
|
|
NM_000094.4(COL7A1):c.5175A>G (p.Gly1725=)
|
rs2107700014
|
|
NM_000094.4(COL7A1):c.5178A>G (p.Gln1726=)
|
rs2107699978
|
|
NM_000094.4(COL7A1):c.5187T>C (p.Pro1729=)
|
rs2044588049
|
|
NM_000094.4(COL7A1):c.5190A>G (p.Arg1730=)
|
|
|
NM_000094.4(COL7A1):c.5193G>T (p.Gly1731=)
|
|
|
NM_000094.4(COL7A1):c.5196C>T (p.Pro1732=)
|
rs1575452130
|
|
NM_000094.4(COL7A1):c.520+10G>C
|
rs529108629
|
|
NM_000094.4(COL7A1):c.520+14A>G
|
|
|
NM_000094.4(COL7A1):c.520+15G>A
|
|
|
NM_000094.4(COL7A1):c.520+18G>A
|
|
|
NM_000094.4(COL7A1):c.5202T>C (p.Gly1734=)
|
rs2044586502
|
|
NM_000094.4(COL7A1):c.521-10G>C
|
rs1412834173
|
|
NM_000094.4(COL7A1):c.521-11C>T
|
|
|
NM_000094.4(COL7A1):c.521-18G>A
|
|
|
NM_000094.4(COL7A1):c.521-5T>A
|
|
|
NM_000094.4(COL7A1):c.521-8C>T
|
rs2107799401
|
|
NM_000094.4(COL7A1):c.5211C>T (p.Gly1737=)
|
rs2107699777
|
|
NM_000094.4(COL7A1):c.5223C>T (p.Ala1741=)
|
|
|
NM_000094.4(COL7A1):c.522G>T (p.Gly174=)
|
|
|
NM_000094.4(COL7A1):c.5232A>G (p.Glu1744=)
|
|
|
NM_000094.4(COL7A1):c.5235+13G>C
|
|
|
NM_000094.4(COL7A1):c.5235+13G>T
|
|
|
NM_000094.4(COL7A1):c.5235+18T>C
|
|
|
NM_000094.4(COL7A1):c.5235+19C>G
|
|
|
NM_000094.4(COL7A1):c.5235+20G>A
|
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|
NM_000094.4(COL7A1):c.5235+7G>A
|
|
|
NM_000094.4(COL7A1):c.5236-11C>G
|
|
|
NM_000094.4(COL7A1):c.5236-11C>T
|
|
|
NM_000094.4(COL7A1):c.5236-11_5236-10insT
|
|
|
NM_000094.4(COL7A1):c.5236-12C>T
|
|
|
NM_000094.4(COL7A1):c.5236-13C>T
|
|
|
NM_000094.4(COL7A1):c.5236-15C>A
|
|
|
NM_000094.4(COL7A1):c.5236-16C>T
|
|
|
NM_000094.4(COL7A1):c.5236-19C>G
|
|
|
NM_000094.4(COL7A1):c.5236-9T>A
|
|
|
NM_000094.4(COL7A1):c.5236-9del
|
|
|
NM_000094.4(COL7A1):c.5238C>A (p.Gly1746=)
|
|
|
NM_000094.4(COL7A1):c.5241T>A (p.Ile1747=)
|
|
|
NM_000094.4(COL7A1):c.5256A>G (p.Gly1752=)
|
rs1321089163
|
|
NM_000094.4(COL7A1):c.5256A>T (p.Gly1752=)
|
rs1321089163
|
|
NM_000094.4(COL7A1):c.5271+10G>T
|
|
|
NM_000094.4(COL7A1):c.5271+17G>A
|
|
|
NM_000094.4(COL7A1):c.5271+17del
|
|
|
NM_000094.4(COL7A1):c.5271+9T>G
|
rs937090602
|
|
NM_000094.4(COL7A1):c.5272-10T>A
|
|
|
NM_000094.4(COL7A1):c.5272-13_5272-12del
|
|
|
NM_000094.4(COL7A1):c.5272-16A>G
|
|
|
NM_000094.4(COL7A1):c.5272-5T>C
|
rs2107698284
|
|
NM_000094.4(COL7A1):c.5277C>T (p.Asp1759=)
|
|
|
NM_000094.4(COL7A1):c.5280A>C (p.Pro1760=)
|
|
|
NM_000094.4(COL7A1):c.5288G>A (p.Arg1763Gln)
|
|
|
NM_000094.4(COL7A1):c.5292C>T (p.Gly1764=)
|
|
|
NM_000094.4(COL7A1):c.5301A>G (p.Gly1767=)
|
rs2107698006
|
|
NM_000094.4(COL7A1):c.5307+14G>A
|
|
|
NM_000094.4(COL7A1):c.5307+16G>T
|
|
|
NM_000094.4(COL7A1):c.5307+7G>A
|
rs116455408
|
|
NM_000094.4(COL7A1):c.5307+8G>A
|
|
|
NM_000094.4(COL7A1):c.5307+9G>A
|
|
|
NM_000094.4(COL7A1):c.5308-11A>G
|
|
|
NM_000094.4(COL7A1):c.5308-16A>C
|
|
|
NM_000094.4(COL7A1):c.5308-4A>G
|
|
|
NM_000094.4(COL7A1):c.5308-5C>T
|
|
|
NM_000094.4(COL7A1):c.5328G>C (p.Gly1776=)
|
|
|
NM_000094.4(COL7A1):c.5334T>C (p.Asp1778=)
|
rs2107697051
|
|
NM_000094.4(COL7A1):c.5342G>A (p.Ser1781Asn)
|
|
|
NM_000094.4(COL7A1):c.5349G>A (p.Leu1783=)
|
rs1390538480
|
|
NM_000094.4(COL7A1):c.534T>G (p.Ala178=)
|
rs2107799337
|
|
NM_000094.4(COL7A1):c.5355G>A (p.Gly1785=)
|
|
|
NM_000094.4(COL7A1):c.537C>T (p.Asp179=)
|
rs2045840017
|
|
NM_000094.4(COL7A1):c.5388+10G>A
|
|
|
NM_000094.4(COL7A1):c.5388+10G>C
|
rs2107696485
|
|
NM_000094.4(COL7A1):c.5388+11G>A
|
|
|
NM_000094.4(COL7A1):c.5388+13A>G
|
|
|
NM_000094.4(COL7A1):c.5388+18T>C
|
|
|
NM_000094.4(COL7A1):c.5388+19G>A
|
|
|
NM_000094.4(COL7A1):c.5388+19G>T
|
|
|
NM_000094.4(COL7A1):c.5388+9T>C
|
rs758328777
|
|
NM_000094.4(COL7A1):c.53C>A (p.Ala18Glu)
|
|
|
NM_000094.4(COL7A1):c.5424+19T>C
|
|
|
NM_000094.4(COL7A1):c.5425-15A>G
|
|
|
NM_000094.4(COL7A1):c.5425-6_5425-5del
|
rs762085901
|
|
NM_000094.4(COL7A1):c.5454C>G (p.Gly1818=)
|
|
|
NM_000094.4(COL7A1):c.5460T>A (p.Pro1820=)
|
rs2044485235
|
|
NM_000094.4(COL7A1):c.546G>A (p.Glu182=)
|
rs2107799198
|
|
NM_000094.4(COL7A1):c.5475C>T (p.Pro1825=)
|
rs2107692019
|
|
NM_000094.4(COL7A1):c.5486C>T (p.Pro1829Leu)
|
|
|
NM_000094.4(COL7A1):c.5487+15dup
|
|
|
NM_000094.4(COL7A1):c.5487+16C>G
|
|
|
NM_000094.4(COL7A1):c.5487+19G>A
|
|
|
NM_000094.4(COL7A1):c.5488-10G>C
|
|
|
NM_000094.4(COL7A1):c.5488-10G>T
|
rs2107691349
|
|
NM_000094.4(COL7A1):c.5488-11T>C
|
|
|
NM_000094.4(COL7A1):c.5488-12C>G
|
|
|
NM_000094.4(COL7A1):c.5488-15G>T
|
|
|
NM_000094.4(COL7A1):c.5488-4A>C
|
rs2107691292
|
|
NM_000094.4(COL7A1):c.5488-7C>G
|
|
|
NM_000094.4(COL7A1):c.5492A>G (p.Lys1831Arg)
|
|
|
NM_000094.4(COL7A1):c.5496A>G (p.Pro1832=)
|
rs375449190
|
|
NM_000094.4(COL7A1):c.5499C>A (p.Gly1833=)
|
|
|
NM_000094.4(COL7A1):c.54G>A (p.Ala18=)
|
|
|
NM_000094.4(COL7A1):c.5514T>C (p.Pro1838=)
|
rs1478176853
|
|
NM_000094.4(COL7A1):c.5517C>A (p.Gly1839=)
|
rs2107691144
|
|
NM_000094.4(COL7A1):c.5517C>T (p.Gly1839=)
|
|
|
NM_000094.4(COL7A1):c.5520G>A (p.Leu1840=)
|
|
|
NM_000094.4(COL7A1):c.5520G>C (p.Leu1840=)
|
rs1001076813
|
|
NM_000094.4(COL7A1):c.5523T>A (p.Asn1841Lys)
|
|
|
NM_000094.4(COL7A1):c.5529A>G (p.Lys1843=)
|
rs2107691076
|
|
NM_000094.4(COL7A1):c.5532+11C>G
|
|
|
NM_000094.4(COL7A1):c.5532+11C>T
|
|
|
NM_000094.4(COL7A1):c.5532+12C>T
|
|
|
NM_000094.4(COL7A1):c.5532+19G>C
|
|
|
NM_000094.4(COL7A1):c.5532+7G>A
|
rs2107690882
|
|
NM_000094.4(COL7A1):c.5532+7_5532+10del
|
rs759445274
|
|
NM_000094.4(COL7A1):c.5533-5C>T
|
|
|
NM_000094.4(COL7A1):c.5544G>A (p.Gly1848=)
|
|
|
NM_000094.4(COL7A1):c.554G>A (p.Arg185Gln)
|
|
|
NM_000094.4(COL7A1):c.5568+13A>C
|
|
|
NM_000094.4(COL7A1):c.5568+20G>C
|
|
|
NM_000094.4(COL7A1):c.5568+9C>T
|
|
|
NM_000094.4(COL7A1):c.5569-14C>T
|
|
|
NM_000094.4(COL7A1):c.5569-17A>T
|
|
|
NM_000094.4(COL7A1):c.5569-5C>T
|
rs542311796
|
|
NM_000094.4(COL7A1):c.5569-9C>G
|
|
|
NM_000094.4(COL7A1):c.5581G>A (p.Asp1861Asn)
|
|
|
NM_000094.4(COL7A1):c.5589C>G (p.Gly1863=)
|
|
|
NM_000094.4(COL7A1):c.5589C>T (p.Gly1863=)
|
|
|
NM_000094.4(COL7A1):c.5593T>C (p.Ser1865Pro)
|
|
|
NM_000094.4(COL7A1):c.5598G>C (p.Gly1866=)
|
rs765176554
|
|
NM_000094.4(COL7A1):c.5604+11G>C
|
|
|
NM_000094.4(COL7A1):c.5604+17T>G
|
rs2107683401
|
|
NM_000094.4(COL7A1):c.5604+20G>A
|
|
|
NM_000094.4(COL7A1):c.5604+7A>G
|
rs1488211470
|
|
NM_000094.4(COL7A1):c.5605-16G>T
|
|
|
NM_000094.4(COL7A1):c.5609G>A (p.Arg1870His)
|
|
|
NM_000094.4(COL7A1):c.5611G>A (p.Asp1871Asn)
|
|
|
NM_000094.4(COL7A1):c.561C>G (p.Ala187=)
|
|
|
NM_000094.4(COL7A1):c.5634A>C (p.Gly1878=)
|
rs2107682526
|
|
NM_000094.4(COL7A1):c.5652A>G (p.Gly1884=)
|
|
|
NM_000094.4(COL7A1):c.5655C>G (p.Pro1885=)
|
rs2107682399
|
|
NM_000094.4(COL7A1):c.5655C>T (p.Pro1885=)
|
|
|
NM_000094.4(COL7A1):c.5664T>G (p.Pro1888=)
|
|
|
NM_000094.4(COL7A1):c.5667A>G (p.Pro1889=)
|
|
|
NM_000094.4(COL7A1):c.5673C>T (p.Leu1891=)
|
|
|
NM_000094.4(COL7A1):c.5679G>A (p.Gly1893=)
|
|
|
NM_000094.4(COL7A1):c.5688C>A (p.Gly1896=)
|
|
|
NM_000094.4(COL7A1):c.5688C>T (p.Gly1896=)
|
|
|
NM_000094.4(COL7A1):c.5689C>T (p.Pro1897Ser)
|
|
|
NM_000094.4(COL7A1):c.5690C>T (p.Pro1897Leu)
|
|
|
NM_000094.4(COL7A1):c.5700+10C>T
|
rs2107682017
|
|
NM_000094.4(COL7A1):c.5700+11T>C
|
|
|
NM_000094.4(COL7A1):c.5700+12G>A
|
|
|
NM_000094.4(COL7A1):c.5700+13G>A
|
|
|
NM_000094.4(COL7A1):c.5700+16C>T
|
|
|
NM_000094.4(COL7A1):c.5700+17A>C
|
|
|
NM_000094.4(COL7A1):c.5700+19T>C
|
|
|
NM_000094.4(COL7A1):c.5700+9C>T
|
rs1174558545
|
|
NM_000094.4(COL7A1):c.5701-10C>G
|
|
|
NM_000094.4(COL7A1):c.5701-12G>A
|
|
|
NM_000094.4(COL7A1):c.5701-17G>A
|
|
|
NM_000094.4(COL7A1):c.5701-18T>C
|
|
|
NM_000094.4(COL7A1):c.5701-7A>G
|
|
|
NM_000094.4(COL7A1):c.5701-8T>C
|
|
|
NM_000094.4(COL7A1):c.5701-9G>T
|
|
|
NM_000094.4(COL7A1):c.5709T>A (p.Pro1903=)
|
|
|
NM_000094.4(COL7A1):c.5715C>G (p.Val1905=)
|
|
|
NM_000094.4(COL7A1):c.5715C>T (p.Val1905=)
|
rs984384543
|
|
NM_000094.4(COL7A1):c.5727G>T (p.Thr1909=)
|
|
|
NM_000094.4(COL7A1):c.5736+13G>A
|
|
|
NM_000094.4(COL7A1):c.5736+15del
|
|
|
NM_000094.4(COL7A1):c.5736+17G>A
|
|
|
NM_000094.4(COL7A1):c.5736+17_5736+18delinsAA
|
rs2107681050
|
|
NM_000094.4(COL7A1):c.5736+19T>A
|
|
|
NM_000094.4(COL7A1):c.5736+19T>G
|
|
|
NM_000094.4(COL7A1):c.5737-11C>T
|
|
|
NM_000094.4(COL7A1):c.5737-14A>C
|
|
|
NM_000094.4(COL7A1):c.5737-17G>A
|
|
|
NM_000094.4(COL7A1):c.5737-18G>C
|
|
|
NM_000094.4(COL7A1):c.5737-20C>G
|
|
|
NM_000094.4(COL7A1):c.5737-4T>G
|
|
|
NM_000094.4(COL7A1):c.5748G>A (p.Gly1916=)
|
rs769232047
|
|
NM_000094.4(COL7A1):c.5767G>A (p.Glu1923Lys)
|
|
|
NM_000094.4(COL7A1):c.5772+12A>G
|
|
|
NM_000094.4(COL7A1):c.5772+14C>T
|
|
|
NM_000094.4(COL7A1):c.5772+8C>T
|
|
|
NM_000094.4(COL7A1):c.5772+9C>G
|
rs927732931
|
|
NM_000094.4(COL7A1):c.5773-12T>A
|
|
|
NM_000094.4(COL7A1):c.5773-16G>A
|
|
|
NM_000094.4(COL7A1):c.5773-6C>T
|
|
|
NM_000094.4(COL7A1):c.5773-7T>C
|
rs2107679700
|
|
NM_000094.4(COL7A1):c.5773-8C>T
|
rs2107679713
|
|
NM_000094.4(COL7A1):c.5793C>A (p.Gly1931=)
|
rs2107679548
|
|
NM_000094.4(COL7A1):c.5799A>C (p.Arg1933=)
|
|
|
NM_000094.4(COL7A1):c.5802A>C (p.Gly1934=)
|
rs777787168
|
|
NM_000094.4(COL7A1):c.5814T>C (p.Ser1938=)
|
rs2107679385
|
|
NM_000094.4(COL7A1):c.5820+10G>A
|
|
|
NM_000094.4(COL7A1):c.5820+12T>G
|
|
|
NM_000094.4(COL7A1):c.5820+13T>A
|
|
|
NM_000094.4(COL7A1):c.5820+13T>G
|
|
|
NM_000094.4(COL7A1):c.5820+14G>C
|
|
|
NM_000094.4(COL7A1):c.5820+18T>A
|
|
|
NM_000094.4(COL7A1):c.5820+19G>A
|
|
|
NM_000094.4(COL7A1):c.5820+7del
|
rs2107679268
|
|
NM_000094.4(COL7A1):c.5821-20C>T
|
|
|
NM_000094.4(COL7A1):c.5821-4C>T
|
|
|
NM_000094.4(COL7A1):c.5821-6C>T
|
|
|
NM_000094.4(COL7A1):c.5821-9T>C
|
|
|
NM_000094.4(COL7A1):c.5826G>A (p.Val1942=)
|
|
|
NM_000094.4(COL7A1):c.5828A>C (p.Asp1943Ala)
|
|
|
NM_000094.4(COL7A1):c.5830C>T (p.Arg1944Trp)
|
|
|
NM_000094.4(COL7A1):c.5831G>A (p.Arg1944Gln)
|
|
|
NM_000094.4(COL7A1):c.5836C>T (p.Leu1946=)
|
rs763839037
|
|
NM_000094.4(COL7A1):c.5838G>C (p.Leu1946=)
|
rs2107677514
|
|
NM_000094.4(COL7A1):c.5850C>T (p.Gly1950=)
|
|
|
NM_000094.4(COL7A1):c.5856+11T>C
|
|
|
NM_000094.4(COL7A1):c.5856+14G>A
|
|
|
NM_000094.4(COL7A1):c.5856+16G>A
|
|
|
NM_000094.4(COL7A1):c.5856+16G>C
|
|
|
NM_000094.4(COL7A1):c.5856+20G>A
|
|
|
NM_000094.4(COL7A1):c.5856+20G>C
|
|
|
NM_000094.4(COL7A1):c.5856+7T>G
|
|
|
NM_000094.4(COL7A1):c.5857-18C>T
|
|
|
NM_000094.4(COL7A1):c.5857-5C>T
|
|
|
NM_000094.4(COL7A1):c.5859A>G (p.Ala1953=)
|
rs2107676528
|
|
NM_000094.4(COL7A1):c.585C>T (p.Phe195=)
|
rs2045836568
|
|
NM_000094.4(COL7A1):c.5877C>A (p.Ile1959=)
|
rs779298653
|
|
NM_000094.4(COL7A1):c.5878G>A (p.Val1960Met)
|
|
|
NM_000094.4(COL7A1):c.5886C>G (p.Thr1962=)
|
|
|
NM_000094.4(COL7A1):c.588C>T (p.Phe196=)
|
|
|
NM_000094.4(COL7A1):c.5901T>C (p.Ser1967=)
|
|
|
NM_000094.4(COL7A1):c.5904T>G (p.Gly1968=)
|
|
|
NM_000094.4(COL7A1):c.5907C>T (p.Ser1969=)
|
rs752440706
|
|
NM_000094.4(COL7A1):c.5913G>A (p.Leu1971=)
|
rs754578634
|
|
NM_000094.4(COL7A1):c.5919G>A (p.Val1973=)
|
|
|
NM_000094.4(COL7A1):c.5926C>T (p.Arg1976Trp)
|
rs143307229
|
|
NM_000094.4(COL7A1):c.5928G>A (p.Arg1976=)
|
|
|
NM_000094.4(COL7A1):c.5937C>G (p.Gly1979=)
|
|
|
NM_000094.4(COL7A1):c.5946G>A (p.Gly1982=)
|
rs1264042847
|
|
NM_000094.4(COL7A1):c.5949C>T (p.Asp1983=)
|
|
|
NM_000094.4(COL7A1):c.5955C>A (p.Gly1985=)
|
rs772739066
|
|
NM_000094.4(COL7A1):c.5955C>T (p.Gly1985=)
|
|
|
NM_000094.4(COL7A1):c.5970A>C (p.Pro1990=)
|
rs2044245764
|
|
NM_000094.4(COL7A1):c.5970A>G (p.Pro1990=)
|
rs2044245764
|
|
NM_000094.4(COL7A1):c.5973C>A (p.Gly1991=)
|
rs2107675874
|
|
NM_000094.4(COL7A1):c.5979+11G>A
|
|
|
NM_000094.4(COL7A1):c.5979+14G>C
|
|
|
NM_000094.4(COL7A1):c.5979+15C>G
|
|
|
NM_000094.4(COL7A1):c.5979+19G>A
|
|
|
NM_000094.4(COL7A1):c.5979+20T>C
|
|
|
NM_000094.4(COL7A1):c.5979+8G>A
|
rs780897658
|
|
NM_000094.4(COL7A1):c.5980-15C>T
|
rs1337412204
|
|
NM_000094.4(COL7A1):c.5980-22_5980-19dup
|
|
|
NM_000094.4(COL7A1):c.5980-4G>A
|
rs759673044
|
|
NM_000094.4(COL7A1):c.5980-4G>T
|
|
|
NM_000094.4(COL7A1):c.5980-5T>G
|
|
|
NM_000094.4(COL7A1):c.5980-6C>T
|
|
|
NM_000094.4(COL7A1):c.5980-9C>A
|
rs2107675447
|
|
NM_000094.4(COL7A1):c.5980-9C>T
|
|
|
NM_000094.4(COL7A1):c.5991C>G (p.Gly1997=)
|
|
|
NM_000094.4(COL7A1):c.5994T>C (p.Phe1998=)
|
rs2044237254
|
|
NM_000094.4(COL7A1):c.5997T>C (p.Pro1999=)
|
rs2044237096
|
|
NM_000094.4(COL7A1):c.6006C>T (p.Arg2002=)
|
|
|
NM_000094.4(COL7A1):c.6012G>T (p.Leu2004=)
|
rs2107675155
|
|
NM_000094.4(COL7A1):c.6018C>A (p.Gly2006=)
|
rs367583660
|
|
NM_000094.4(COL7A1):c.6018C>T (p.Gly2006=)
|
|
|
NM_000094.4(COL7A1):c.6033T>A (p.Pro2011=)
|
rs2107674977
|
|
NM_000094.4(COL7A1):c.6057G>A (p.Leu2019=)
|
|
|
NM_000094.4(COL7A1):c.6075C>G (p.Gly2025=)
|
rs763329165
|
|
NM_000094.4(COL7A1):c.6078C>A (p.Pro2026=)
|
rs1047164776
|
|
NM_000094.4(COL7A1):c.6078C>T (p.Pro2026=)
|
|
|
NM_000094.4(COL7A1):c.6081C>G (p.Pro2027=)
|
rs375047225
|
|
NM_000094.4(COL7A1):c.6084G>C (p.Gly2028=)
|
rs1305560204
|
|
NM_000094.4(COL7A1):c.6099C>G (p.Ala2033=)
|
rs201150671
|
|
NM_000094.4(COL7A1):c.6099C>T (p.Ala2033=)
|
rs201150671
|
|
NM_000094.4(COL7A1):c.6105G>A (p.Glu2035=)
|
|
|
NM_000094.4(COL7A1):c.6114G>A (p.Lys2038=)
|
|
|
NM_000094.4(COL7A1):c.6126C>G (p.Pro2042=)
|
|
|
NM_000094.4(COL7A1):c.6135A>C (p.Pro2045=)
|
rs2107674145
|
|
NM_000094.4(COL7A1):c.6138C>A (p.Gly2046=)
|
|
|
NM_000094.4(COL7A1):c.6142G>T (p.Ala2048Ser)
|
|
|
NM_000094.4(COL7A1):c.6144T>C (p.Ala2048=)
|
|
|
NM_000094.4(COL7A1):c.6159G>A (p.Glu2053=)
|
rs2107673924
|
|
NM_000094.4(COL7A1):c.615G>A (p.Arg205=)
|
rs774431651
|
|
NM_000094.4(COL7A1):c.6171A>G (p.Pro2057=)
|
rs763064296
|
|
NM_000094.4(COL7A1):c.6180+12G>A
|
|
|
NM_000094.4(COL7A1):c.6180+13G>A
|
|
|
NM_000094.4(COL7A1):c.6180+15T>C
|
|
|
NM_000094.4(COL7A1):c.6180+17G>A
|
|
|
NM_000094.4(COL7A1):c.6180+18C>T
|
|
|
NM_000094.4(COL7A1):c.6180+8T>C
|
|
|
NM_000094.4(COL7A1):c.6181-10T>C
|
rs2044209564
|
|
NM_000094.4(COL7A1):c.6181-16G>A
|
|
|
NM_000094.4(COL7A1):c.6181-17C>G
|
|
|
NM_000094.4(COL7A1):c.6181-17C>T
|
rs200484047
|
|
NM_000094.4(COL7A1):c.6181-18C>G
|
|
|
NM_000094.4(COL7A1):c.6181-18C>T
|
|
|
NM_000094.4(COL7A1):c.6181-4del
|
rs2044209233
|
|
NM_000094.4(COL7A1):c.6181-9G>A
|
rs2107672973
|
|
NM_000094.4(COL7A1):c.6186A>G (p.Glu2062=)
|
rs2107672897
|
|
NM_000094.4(COL7A1):c.618A>T (p.Thr206=)
|
rs771119509
|
|
NM_000094.4(COL7A1):c.6192A>G (p.Gly2064=)
|
rs2107672806
|
|
NM_000094.4(COL7A1):c.6216+10G>A
|
rs769882067
|
|
NM_000094.4(COL7A1):c.6216+10G>T
|
rs769882067
|
|
NM_000094.4(COL7A1):c.6216+13G>A
|
|
|
NM_000094.4(COL7A1):c.6216+17T>C
|
|
|
NM_000094.4(COL7A1):c.6216+20G>A
|
|
|
NM_000094.4(COL7A1):c.6216+7dup
|
|
|
NM_000094.4(COL7A1):c.6217-11G>A
|
|
|
NM_000094.4(COL7A1):c.6217-14C>T
|
|
|
NM_000094.4(COL7A1):c.6217-19A>C
|
|
|
NM_000094.4(COL7A1):c.6217-8T>C
|
rs2107672216
|
|
NM_000094.4(COL7A1):c.622C>T (p.Leu208=)
|
|
|
NM_000094.4(COL7A1):c.6234T>C (p.Pro2078=)
|
rs762651622
|
|
NM_000094.4(COL7A1):c.6264A>G (p.Gly2088=)
|
|
|
NM_000094.4(COL7A1):c.6265C>A (p.Pro2089Thr)
|
rs139920321
|
|
NM_000094.4(COL7A1):c.6266C>T (p.Pro2089Leu)
|
|
|
NM_000094.4(COL7A1):c.6267C>A (p.Pro2089=)
|
rs2044195716
|
|
NM_000094.4(COL7A1):c.6270T>C (p.Pro2090=)
|
|
|
NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=)
|
rs2044195363
|
|
NM_000094.4(COL7A1):c.6279+10C>T
|
rs2044193722
|
|
NM_000094.4(COL7A1):c.6279+11C>T
|
|
|
NM_000094.4(COL7A1):c.6279+12A>G
|
|
|
NM_000094.4(COL7A1):c.6279+8C>T
|
rs749295783
|
|
NM_000094.4(COL7A1):c.627C>A (p.Pro209=)
|
rs2045833453
|
|
NM_000094.4(COL7A1):c.6280-12T>C
|
|
|
NM_000094.4(COL7A1):c.6280-13C>G
|
|
|
NM_000094.4(COL7A1):c.6280-20_6280-19del
|
|
|
NM_000094.4(COL7A1):c.6282G>A (p.Val2094=)
|
|
|
NM_000094.4(COL7A1):c.6288G>A (p.Val2096=)
|
|
|
NM_000094.4(COL7A1):c.6288G>T (p.Val2096=)
|
|
|
NM_000094.4(COL7A1):c.6306A>G (p.Gly2102=)
|
|
|
NM_000094.4(COL7A1):c.6309C>T (p.Leu2103=)
|
rs2107670363
|
|
NM_000094.4(COL7A1):c.6324A>G (p.Gly2108=)
|
|
|
NM_000094.4(COL7A1):c.6325C>T (p.Pro2109Ser)
|
|
|
NM_000094.4(COL7A1):c.6327C>T (p.Pro2109=)
|
rs2107670223
|
|
NM_000094.4(COL7A1):c.6348+10T>C
|
|
|
NM_000094.4(COL7A1):c.6348+10_6348+11insTAA
|
|
|
NM_000094.4(COL7A1):c.6348+16C>T
|
|
|
NM_000094.4(COL7A1):c.6348+17A>C
|
|
|
NM_000094.4(COL7A1):c.6348+7G>T
|
rs778731762
|
|
NM_000094.4(COL7A1):c.6349-16C>T
|
|
|
NM_000094.4(COL7A1):c.6354G>A (p.Glu2118=)
|
|
|
NM_000094.4(COL7A1):c.6360C>A (p.Gly2120=)
|
rs2107669756
|
|
NM_000094.4(COL7A1):c.6361A>G (p.Ser2121Gly)
|
|
|
NM_000094.4(COL7A1):c.6375A>G (p.Gln2125=)
|
rs2107669673
|
|
NM_000094.4(COL7A1):c.6393+10C>G
|
|
|
NM_000094.4(COL7A1):c.6394-10C>A
|
|
|
NM_000094.4(COL7A1):c.6394-10C>T
|
|
|
NM_000094.4(COL7A1):c.6394-12C>T
|
|
|
NM_000094.4(COL7A1):c.6394-14C>T
|
|
|
NM_000094.4(COL7A1):c.6394-16G>A
|
|
|
NM_000094.4(COL7A1):c.6394-17C>T
|
|
|
NM_000094.4(COL7A1):c.6394-20G>T
|
|
|
NM_000094.4(COL7A1):c.6394-5T>G
|
|
|
NM_000094.4(COL7A1):c.6394-6C>G
|
|
|
NM_000094.4(COL7A1):c.6394-6C>T
|
|
|
NM_000094.4(COL7A1):c.6394-8G>A
|
rs2107668980
|
|
NM_000094.4(COL7A1):c.6397G>A (p.Val2133Met)
|
|
|
NM_000094.4(COL7A1):c.639G>A (p.Arg213=)
|
rs1433516825
|
|
NM_000094.4(COL7A1):c.639G>T (p.Arg213=)
|
|
|
NM_000094.4(COL7A1):c.6408C>T (p.Ile2136=)
|
|
|
NM_000094.4(COL7A1):c.6441T>G (p.Gly2147=)
|
rs2044155068
|
|
NM_000094.4(COL7A1):c.6448G>A (p.Gly2150Ser)
|
|
|
NM_000094.4(COL7A1):c.6453C>T (p.Asn2151=)
|
|
|
NM_000094.4(COL7A1):c.6454C>A (p.Pro2152Thr)
|
|
|
NM_000094.4(COL7A1):c.6456+16A>C
|
|
|
NM_000094.4(COL7A1):c.6456+16A>G
|
|
|
NM_000094.4(COL7A1):c.6456+20C>A
|
|
|
NM_000094.4(COL7A1):c.6456+20C>T
|
|
|
NM_000094.4(COL7A1):c.6456+8C>T
|
|
|
NM_000094.4(COL7A1):c.6456+9T>G
|
|
|
NM_000094.4(COL7A1):c.6457-12T>C
|
|
|
NM_000094.4(COL7A1):c.6457-13C>T
|
|
|
NM_000094.4(COL7A1):c.6457-16A>C
|
|
|
NM_000094.4(COL7A1):c.6457-17A>C
|
|
|
NM_000094.4(COL7A1):c.6457-8C>A
|
|
|
NM_000094.4(COL7A1):c.6457-8C>G
|
|
|
NM_000094.4(COL7A1):c.6457-8C>T
|
rs2107667651
|
|
NM_000094.4(COL7A1):c.6461T>G (p.Leu2154Arg)
|
|
|
NM_000094.4(COL7A1):c.6468A>G (p.Gly2156=)
|
|
|
NM_000094.4(COL7A1):c.6489T>C (p.Pro2163=)
|
|
|
NM_000094.4(COL7A1):c.6501+12C>T
|
|
|
NM_000094.4(COL7A1):c.6501+13T>C
|
|
|
NM_000094.4(COL7A1):c.6501+17G>A
|
rs2107667180
|
|
NM_000094.4(COL7A1):c.6501+7G>A
|
rs2044133950
|
|
NM_000094.4(COL7A1):c.6502-12C>A
|
|
|
NM_000094.4(COL7A1):c.6502-12C>T
|
|
|
NM_000094.4(COL7A1):c.6502-12CT[4]
|
rs1424574368
|
|
NM_000094.4(COL7A1):c.6502-18A>G
|
|
|
NM_000094.4(COL7A1):c.6502-18_6502-17del
|
|
|
NM_000094.4(COL7A1):c.6502-20T>C
|
|
|
NM_000094.4(COL7A1):c.6502-6A>C
|
rs1575434977
|
|
NM_000094.4(COL7A1):c.6502-8C>A
|
|
|
NM_000094.4(COL7A1):c.6502-9T>C
|
|
|
NM_000094.4(COL7A1):c.6507G>A (p.Leu2169=)
|
|
|
NM_000094.4(COL7A1):c.6507G>C (p.Leu2169=)
|
rs1342434704
|
|
NM_000094.4(COL7A1):c.6507G>T (p.Leu2169=)
|
rs1342434704
|
|
NM_000094.4(COL7A1):c.650C>T (p.Thr217Met)
|
|
|
NM_000094.4(COL7A1):c.6522C>T (p.Gly2174=)
|
rs781281946
|
|
NM_000094.4(COL7A1):c.6525C>A (p.Pro2175=)
|
|
|
NM_000094.4(COL7A1):c.6525C>G (p.Pro2175=)
|
|
|
NM_000094.4(COL7A1):c.6525C>T (p.Pro2175=)
|
|
|
NM_000094.4(COL7A1):c.6534A>G (p.Pro2178=)
|
|
|
NM_000094.4(COL7A1):c.6537+10C>T
|
rs1425145848
|
|
NM_000094.4(COL7A1):c.6537+12_6537+21del
|
|
|
NM_000094.4(COL7A1):c.6537+16C>A
|
|
|
NM_000094.4(COL7A1):c.6537+17C>A
|
|
|
NM_000094.4(COL7A1):c.6537+17C>G
|
|
|
NM_000094.4(COL7A1):c.6537+9C>T
|
rs2107664790
|
|
NM_000094.4(COL7A1):c.6538-10G>C
|
rs747313983
|
|
NM_000094.4(COL7A1):c.6538-10G>T
|
rs747313983
|
|
NM_000094.4(COL7A1):c.6538-11C>T
|
|
|
NM_000094.4(COL7A1):c.6538-13_6538-12del
|
|
|
NM_000094.4(COL7A1):c.6538-14T>C
|
|
|
NM_000094.4(COL7A1):c.6538-17_6538-16del
|
|
|
NM_000094.4(COL7A1):c.6538-19C>G
|
|
|
NM_000094.4(COL7A1):c.6538-19C>T
|
|
|
NM_000094.4(COL7A1):c.6538-20A>C
|
|
|
NM_000094.4(COL7A1):c.6538-5A>C
|
rs182043849
|
|
NM_000094.4(COL7A1):c.6538-8C>T
|
|
|
NM_000094.4(COL7A1):c.6543T>C (p.Gly2181=)
|
|
|
NM_000094.4(COL7A1):c.654T>C (p.Thr218=)
|
rs1210025426
|
|
NM_000094.4(COL7A1):c.6573+10C>G
|
rs1575434240
|
|
NM_000094.4(COL7A1):c.6573+11A>G
|
|
|
NM_000094.4(COL7A1):c.6573+18A>C
|
|
|
NM_000094.4(COL7A1):c.6573+19C>G
|
|
|
NM_000094.4(COL7A1):c.6573+19C>T
|
|
|
NM_000094.4(COL7A1):c.6573+7G>A
|
|
|
NM_000094.4(COL7A1):c.6574-12C>T
|
|
|
NM_000094.4(COL7A1):c.6574-4C>T
|
|
|
NM_000094.4(COL7A1):c.6576T>A (p.Gly2192=)
|
|
|
NM_000094.4(COL7A1):c.6582T>G (p.Ala2194=)
|
rs1340647253
|
|
NM_000094.4(COL7A1):c.6588T>C (p.Pro2196=)
|
rs1285181112
|
|
NM_000094.4(COL7A1):c.65G>A (p.Arg22Gln)
|
|
|
NM_000094.4(COL7A1):c.6600A>G (p.Gln2200=)
|
|
|
NM_000094.4(COL7A1):c.6606T>C (p.Pro2202=)
|
rs2044077450
|
|
NM_000094.4(COL7A1):c.6612C>A (p.Gly2204=)
|
|
|
NM_000094.4(COL7A1):c.6615G>A (p.Leu2205=)
|
rs2107663179
|
|
NM_000094.4(COL7A1):c.6618+10G>A
|
|
|
NM_000094.4(COL7A1):c.6618+15G>T
|
|
|
NM_000094.4(COL7A1):c.6618+7C>G
|
|
|
NM_000094.4(COL7A1):c.6619-10T>G
|
|
|
NM_000094.4(COL7A1):c.6619-11G>A
|
|
|
NM_000094.4(COL7A1):c.6619-16T>C
|
|
|
NM_000094.4(COL7A1):c.6619-17C>A
|
|
|
NM_000094.4(COL7A1):c.6619-18T>C
|
|
|
NM_000094.4(COL7A1):c.6621G>A (p.Gly2207=)
|
|
|
NM_000094.4(COL7A1):c.6624G>A (p.Glu2208=)
|
rs2044064990
|
|
NM_000094.4(COL7A1):c.6625C>T (p.Pro2209Ser)
|
|
|
NM_000094.4(COL7A1):c.6630A>G (p.Gly2210=)
|
rs1199293130
|
|
NM_000094.4(COL7A1):c.6639A>G (p.Gly2213=)
|
|
|
NM_000094.4(COL7A1):c.6648A>G (p.Gly2216=)
|
|
|
NM_000094.4(COL7A1):c.6649C>A (p.Arg2217=)
|
|
|
NM_000094.4(COL7A1):c.6650G>A (p.Arg2217Gln)
|
|
|
NM_000094.4(COL7A1):c.6651+11T>C
|
|
|
NM_000094.4(COL7A1):c.6651+11T>G
|
rs1216411404
|
|
NM_000094.4(COL7A1):c.6651+16C>T
|
rs2107662020
|
|
NM_000094.4(COL7A1):c.6651+7G>A
|
|
|
NM_000094.4(COL7A1):c.6652-16C>T
|
|
|
NM_000094.4(COL7A1):c.6652-4C>T
|
rs1413233003
|
|
NM_000094.4(COL7A1):c.6652-6C>T
|
|
|
NM_000094.4(COL7A1):c.6660T>G (p.Thr2220=)
|
|
|
NM_000094.4(COL7A1):c.6663A>G (p.Gly2221=)
|
|
|
NM_000094.4(COL7A1):c.6672A>C (p.Gly2224=)
|
|
|
NM_000094.4(COL7A1):c.6684T>C (p.Leu2228=)
|
rs2107661612
|
|
NM_000094.4(COL7A1):c.6693C>G (p.Pro2231=)
|
|
|
NM_000094.4(COL7A1):c.6696C>T (p.Pro2232=)
|
rs61729223
|
|
NM_000094.4(COL7A1):c.669T>G (p.Pro223=)
|
|
|
NM_000094.4(COL7A1):c.6702T>C (p.Pro2234=)
|
|
|
NM_000094.4(COL7A1):c.6705A>G (p.Ser2235=)
|
|
|
NM_000094.4(COL7A1):c.6708C>T (p.Gly2236=)
|
|
|
NM_000094.4(COL7A1):c.6714+15G>A
|
|
|
NM_000094.4(COL7A1):c.6714+16T>C
|
|
|
NM_000094.4(COL7A1):c.6714+18G>A
|
|
|
NM_000094.4(COL7A1):c.6714+19C>G
|
|
|
NM_000094.4(COL7A1):c.6714+7_6714+10del
|
|
|
NM_000094.4(COL7A1):c.6714+8A>T
|
|
|
NM_000094.4(COL7A1):c.6715-12G>A
|
|
|
NM_000094.4(COL7A1):c.6715-17G>A
|
rs990028371
|
|
NM_000094.4(COL7A1):c.6715-17G>C
|
|
|
NM_000094.4(COL7A1):c.6715-5G>C
|
rs565238443
|
|
NM_000094.4(COL7A1):c.6719C>T (p.Pro2240Leu)
|
|
|
NM_000094.4(COL7A1):c.6720A>C (p.Pro2240=)
|
|
|
NM_000094.4(COL7A1):c.6750+10G>A
|
|
|
NM_000094.4(COL7A1):c.6751-10T>C
|
rs2107660056
|
|
NM_000094.4(COL7A1):c.6751-14C>T
|
|
|
NM_000094.4(COL7A1):c.6751-15G>A
|
|
|
NM_000094.4(COL7A1):c.6751-17G>A
|
|
|
NM_000094.4(COL7A1):c.6751-19C>T
|
|
|
NM_000094.4(COL7A1):c.6751-8C>T
|
|
|
NM_000094.4(COL7A1):c.6753G>A (p.Gly2251=)
|
|
|
NM_000094.4(COL7A1):c.6756G>A (p.Glu2252=)
|
|
|
NM_000094.4(COL7A1):c.6759A>G (p.Thr2253=)
|
rs2107659901
|
|
NM_000094.4(COL7A1):c.677G>A (p.Arg226Gln)
|
|
|
NM_000094.4(COL7A1):c.6789T>C (p.Gly2263=)
|
|
|
NM_000094.4(COL7A1):c.6800A>G (p.Lys2267Arg)
|
rs574558938
|
|
NM_000094.4(COL7A1):c.6816G>A (p.Gly2272=)
|
rs2107659496
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NM_000094.4(COL7A1):c.7023+10G>A
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NM_000094.4(COL7A1):c.7047G>A (p.Glu2349=)
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NM_000094.4(COL7A1):c.7069-10G>T
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NM_000094.4(COL7A1):c.7105-15del
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|
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|
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|
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|
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NM_000094.4(COL7A1):c.7272+7_7272+13del
|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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NM_000094.4(COL7A1):c.7486-11del
|
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NM_000094.4(COL7A1):c.7486-12_7486-10del
|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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NM_000094.4(COL7A1):c.7522-5A>G
|
rs779113637
|
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|
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NM_000094.4(COL7A1):c.7527T>C (p.Asp2509=)
|
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NM_000094.4(COL7A1):c.7536T>C (p.Ser2512=)
|
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NM_000094.4(COL7A1):c.753G>A (p.Gln251=)
|
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NM_000094.4(COL7A1):c.7543C>T (p.Leu2515=)
|
rs1011059662
|
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NM_000094.4(COL7A1):c.7548G>A (p.Lys2516=)
|
rs1357504212
|
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NM_000094.4(COL7A1):c.7554C>T (p.Asp2518=)
|
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|
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NM_000094.4(COL7A1):c.7557+14T>G
|
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NM_000094.4(COL7A1):c.7557+16G>A
|
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NM_000094.4(COL7A1):c.7557+20G>A
|
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NM_000094.4(COL7A1):c.7558-16C>T
|
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NM_000094.4(COL7A1):c.7558-6C>A
|
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NM_000094.4(COL7A1):c.7558-7C>T
|
rs2043786430
|
|
NM_000094.4(COL7A1):c.7558-9C>T
|
rs2107642617
|
|
NM_000094.4(COL7A1):c.7563C>T (p.Asp2521=)
|
|
|
NM_000094.4(COL7A1):c.759A>G (p.Thr253=)
|
|
|
NM_000094.4(COL7A1):c.75C>T (p.His25=)
|
|
|
NM_000094.4(COL7A1):c.7602C>T (p.Ala2534=)
|
|
|
NM_000094.4(COL7A1):c.7608G>C (p.Gly2536=)
|
rs1228908378
|
|
NM_000094.4(COL7A1):c.7612A>G (p.Met2538Val)
|
|
|
NM_000094.4(COL7A1):c.7614+10C>A
|
rs767429430
|
|
NM_000094.4(COL7A1):c.7614+10C>G
|
|
|
NM_000094.4(COL7A1):c.7614+11C>G
|
|
|
NM_000094.4(COL7A1):c.7614+12C>G
|
|
|
NM_000094.4(COL7A1):c.7614+14C>T
|
|
|
NM_000094.4(COL7A1):c.7614+18T>C
|
|
|
NM_000094.4(COL7A1):c.7614+19G>A
|
|
|
NM_000094.4(COL7A1):c.7614+20G>A
|
|
|
NM_000094.4(COL7A1):c.7614+7G>T
|
|
|
NM_000094.4(COL7A1):c.7615-13C>T
|
|
|
NM_000094.4(COL7A1):c.7615-4C>A
|
rs2107641831
|
|
NM_000094.4(COL7A1):c.7615-6A>C
|
rs777157837
|
|
NM_000094.4(COL7A1):c.7615-7A>G
|
|
|
NM_000094.4(COL7A1):c.7617T>C (p.Gly2539=)
|
rs2107641808
|
|
NM_000094.4(COL7A1):c.7621C>A (p.Arg2541=)
|
|
|
NM_000094.4(COL7A1):c.762G>A (p.Ala254=)
|
rs2045806208
|
|
NM_000094.4(COL7A1):c.762G>T (p.Ala254=)
|
rs2045806208
|
|
NM_000094.4(COL7A1):c.7631G>A (p.Arg2544Gln)
|
|
|
NM_000094.4(COL7A1):c.7657C>A (p.Arg2553=)
|
rs752294739
|
|
NM_000094.4(COL7A1):c.7662A>G (p.Gly2554=)
|
rs953324706
|
|
NM_000094.4(COL7A1):c.7665C>T (p.Asp2555=)
|
|
|
NM_000094.4(COL7A1):c.7672G>A (p.Asp2558Asn)
|
|
|
NM_000094.4(COL7A1):c.7686+11G>A
|
|
|
NM_000094.4(COL7A1):c.7686+14G>A
|
|
|
NM_000094.4(COL7A1):c.7686+17G>A
|
|
|
NM_000094.4(COL7A1):c.7686+9A>G
|
rs368187472
|
|
NM_000094.4(COL7A1):c.7687-10A>G
|
|
|
NM_000094.4(COL7A1):c.7687-13G>A
|
|
|
NM_000094.4(COL7A1):c.7687-13G>C
|
|
|
NM_000094.4(COL7A1):c.7687-18T>G
|
|
|
NM_000094.4(COL7A1):c.7687-19C>T
|
|
|
NM_000094.4(COL7A1):c.7687-5C>T
|
|
|
NM_000094.4(COL7A1):c.7687-7C>T
|
rs2107639924
|
|
NM_000094.4(COL7A1):c.7689C>A (p.Gly2563=)
|
rs779995041
|
|
NM_000094.4(COL7A1):c.7692C>T (p.Ser2564=)
|
|
|
NM_000094.4(COL7A1):c.7704T>C (p.Pro2568=)
|
rs2107639826
|
|
NM_000094.4(COL7A1):c.7722C>A (p.Ala2574=)
|
|
|
NM_000094.4(COL7A1):c.7725G>C (p.Gly2575=)
|
|
|
NM_000094.4(COL7A1):c.7731A>C (p.Pro2577=)
|
|
|
NM_000094.4(COL7A1):c.7746C>T (p.Leu2582=)
|
rs567022011
|
|
NM_000094.4(COL7A1):c.7749G>A (p.Leu2583=)
|
|
|
NM_000094.4(COL7A1):c.7755C>G (p.Pro2585=)
|
rs1409709221
|
|
NM_000094.4(COL7A1):c.7758+10_7758+11delinsAT
|
rs2107639595
|
|
NM_000094.4(COL7A1):c.7758+12C>G
|
|
|
NM_000094.4(COL7A1):c.7758+14C>T
|
|
|
NM_000094.4(COL7A1):c.7758+19C>T
|
|
|
NM_000094.4(COL7A1):c.7758+20C>A
|
|
|
NM_000094.4(COL7A1):c.7758+8C>A
|
|
|
NM_000094.4(COL7A1):c.7758+9T>C
|
rs2107639610
|
|
NM_000094.4(COL7A1):c.7759-11_7759-10del
|
rs1473242396
|
|
NM_000094.4(COL7A1):c.7759-13G>A
|
|
|
NM_000094.4(COL7A1):c.7759-15C>G
|
|
|
NM_000094.4(COL7A1):c.7759-17A>G
|
rs1206306333
|
|
NM_000094.4(COL7A1):c.7759-18C>A
|
|
|
NM_000094.4(COL7A1):c.7759-18C>T
|
|
|
NM_000094.4(COL7A1):c.7759-5C>T
|
rs764332525
|
|
NM_000094.4(COL7A1):c.7759-6T>C
|
|
|
NM_000094.4(COL7A1):c.7759-7C>T
|
rs2107638641
|
|
NM_000094.4(COL7A1):c.7764A>G (p.Gln2588=)
|
rs2043716423
|
|
NM_000094.4(COL7A1):c.7767T>C (p.Pro2589=)
|
|
|
NM_000094.4(COL7A1):c.7773A>G (p.Ala2591=)
|
|
|
NM_000094.4(COL7A1):c.778A>G (p.Thr260Ala)
|
|
|
NM_000094.4(COL7A1):c.7791C>T (p.Asp2597=)
|
rs2107638458
|
|
NM_000094.4(COL7A1):c.7794+10C>A
|
rs2107638376
|
|
NM_000094.4(COL7A1):c.7794+14G>A
|
|
|
NM_000094.4(COL7A1):c.7794+15C>T
|
rs2107638344
|
|
NM_000094.4(COL7A1):c.7794+16_7794+120del
|
|
|
NM_000094.4(COL7A1):c.7794+16_7794+26del
|
|
|
NM_000094.4(COL7A1):c.7794+18C>T
|
|
|
NM_000094.4(COL7A1):c.7794+8G>A
|
rs2107638391
|
|
NM_000094.4(COL7A1):c.7794+9C>G
|
|
|
NM_000094.4(COL7A1):c.7795-11C>T
|
|
|
NM_000094.4(COL7A1):c.7795-5G>A
|
rs2107637454
|
|
NM_000094.4(COL7A1):c.7795-7C>A
|
|
|
NM_000094.4(COL7A1):c.7795-8C>T
|
|
|
NM_000094.4(COL7A1):c.7795-9C>T
|
|
|
NM_000094.4(COL7A1):c.7797A>T (p.Gly2599=)
|
rs2107637424
|
|
NM_000094.4(COL7A1):c.7812T>C (p.Asp2604=)
|
|
|
NM_000094.4(COL7A1):c.7818G>A (p.Val2606=)
|
|
|
NM_000094.4(COL7A1):c.7821T>A (p.Pro2607=)
|
|
|
NM_000094.4(COL7A1):c.7829G>A (p.Arg2610Gln)
|
rs372102117
|
|
NM_000094.4(COL7A1):c.7833A>G (p.Gly2611=)
|
|
|
NM_000094.4(COL7A1):c.7847T>C (p.Val2616Ala)
|
|
|
NM_000094.4(COL7A1):c.7875+12A>G
|
|
|
NM_000094.4(COL7A1):c.7875+13C>A
|
|
|
NM_000094.4(COL7A1):c.7875+16G>A
|
|
|
NM_000094.4(COL7A1):c.7875+18T>C
|
|
|
NM_000094.4(COL7A1):c.7876-11T>G
|
|
|
NM_000094.4(COL7A1):c.7876-13T>C
|
|
|
NM_000094.4(COL7A1):c.7876-19_7876-17del
|
|
|
NM_000094.4(COL7A1):c.7876-5C>T
|
rs769652554
|
|
NM_000094.4(COL7A1):c.7876-9C>T
|
rs772964665
|
|
NM_000094.4(COL7A1):c.7878T>C (p.Gly2626=)
|
rs1284745171
|
|
NM_000094.4(COL7A1):c.7884G>C (p.Arg2628=)
|
|
|
NM_000094.4(COL7A1):c.7890G>A (p.Val2630=)
|
|
|
NM_000094.4(COL7A1):c.7890G>T (p.Val2630=)
|
rs2043678699
|
|
NM_000094.4(COL7A1):c.7905C>G (p.Gly2635=)
|
rs2107636559
|
|
NM_000094.4(COL7A1):c.7911T>C (p.Asp2637=)
|
rs747223076
|
|
NM_000094.4(COL7A1):c.7911T>G (p.Asp2637Glu)
|
|
|
NM_000094.4(COL7A1):c.7914A>C (p.Gly2638=)
|
|
|
NM_000094.4(COL7A1):c.7917G>A (p.Glu2639=)
|
rs1453731644
|
|
NM_000094.4(COL7A1):c.7923A>G (p.Gly2641=)
|
|
|
NM_000094.4(COL7A1):c.7929+12A>C
|
|
|
NM_000094.4(COL7A1):c.7929+14G>A
|
|
|
NM_000094.4(COL7A1):c.7929+16G>C
|
|
|
NM_000094.4(COL7A1):c.7929+18G>C
|
|
|
NM_000094.4(COL7A1):c.7929+18G>T
|
|
|
NM_000094.4(COL7A1):c.7929+21G>A
|
|
|
NM_000094.4(COL7A1):c.7929+21G>T
|
|
|
NM_000094.4(COL7A1):c.7929+25G>A
|
|
|
NM_000094.4(COL7A1):c.7929+25G>T
|
|
|
NM_000094.4(COL7A1):c.7929+26G>A
|
rs373279464
|
|
NM_000094.4(COL7A1):c.7929+26G>C
|
|
|
NM_000094.4(COL7A1):c.7929+26G>T
|
|
|
NM_000094.4(COL7A1):c.792C>T (p.Val264=)
|
rs1230759810
|
|
NM_000094.4(COL7A1):c.7930-19C>A
|
|
|
NM_000094.4(COL7A1):c.7930-4G>A
|
|
|
NM_000094.4(COL7A1):c.7930-4G>T
|
|
|
NM_000094.4(COL7A1):c.7930-6C>G
|
|
|
NM_000094.4(COL7A1):c.7932A>G (p.Gly2644=)
|
|
|
NM_000094.4(COL7A1):c.7941T>G (p.Gly2647=)
|
|
|
NM_000094.4(COL7A1):c.7953C>A (p.Arg2651=)
|
rs758039219
|
|
NM_000094.4(COL7A1):c.7953C>G (p.Arg2651=)
|
rs758039219
|
|
NM_000094.4(COL7A1):c.7959G>A (p.Gly2653=)
|
rs2043670500
|
|
NM_000094.4(COL7A1):c.795G>A (p.Gln265=)
|
|
|
NM_000094.4(COL7A1):c.7962G>A (p.Leu2654=)
|
|
|
NM_000094.4(COL7A1):c.7962G>T (p.Leu2654=)
|
rs2107635727
|
|
NM_000094.4(COL7A1):c.7974A>G (p.Lys2658=)
|
rs2043669746
|
|
NM_000094.4(COL7A1):c.7979A>C (p.Glu2660Ala)
|
|
|
NM_000094.4(COL7A1):c.7983+10G>A
|
rs1575418998
|
|
NM_000094.4(COL7A1):c.7983+14C>T
|
|
|
NM_000094.4(COL7A1):c.7983+15G>A
|
|
|
NM_000094.4(COL7A1):c.7983+16C>G
|
|
|
NM_000094.4(COL7A1):c.7983+8_7983+9del
|
rs769750167
|
|
NM_000094.4(COL7A1):c.7983+9G>A
|
|
|
NM_000094.4(COL7A1):c.7984-13dup
|
rs66737445
|
|
NM_000094.4(COL7A1):c.7984-14C>T
|
|
|
NM_000094.4(COL7A1):c.7984-7T>C
|
rs1575418842
|
|
NM_000094.4(COL7A1):c.7984-9T>C
|
rs2107635306
|
|
NM_000094.4(COL7A1):c.798C>T (p.Tyr266=)
|
rs754825515
|
|
NM_000094.4(COL7A1):c.7992T>C (p.Pro2664=)
|
rs2043664998
|
|
NM_000094.4(COL7A1):c.7998G>C (p.Val2666=)
|
|
|
NM_000094.4(COL7A1):c.8004C>A (p.Gly2668=)
|
rs2107635160
|
|
NM_000094.4(COL7A1):c.8007G>A (p.Gln2669=)
|
rs369881673
|
|
NM_000094.4(COL7A1):c.8010G>A (p.Ser2670=)
|
rs557077483
|
|
NM_000094.4(COL7A1):c.8010G>T (p.Ser2670=)
|
rs557077483
|
|
NM_000094.4(COL7A1):c.8013G>A (p.Gly2671=)
|
rs762979664
|
|
NM_000094.4(COL7A1):c.8013G>C (p.Gly2671=)
|
|
|
NM_000094.4(COL7A1):c.8013G>T (p.Gly2671=)
|
|
|
NM_000094.4(COL7A1):c.8031C>G (p.Gly2677=)
|
|
|
NM_000094.4(COL7A1):c.8041C>T (p.Pro2681Ser)
|
|
|
NM_000094.4(COL7A1):c.8046+12G>A
|
|
|
NM_000094.4(COL7A1):c.8046+8G>A
|
|
|
NM_000094.4(COL7A1):c.8047-13C>A
|
|
|
NM_000094.4(COL7A1):c.8047-13C>T
|
rs762232738
|
|
NM_000094.4(COL7A1):c.8047-14T>G
|
|
|
NM_000094.4(COL7A1):c.8047-16C>T
|
|
|
NM_000094.4(COL7A1):c.8047-19A>G
|
|
|
NM_000094.4(COL7A1):c.8047-5C>A
|
rs777140960
|
|
NM_000094.4(COL7A1):c.8058C>T (p.Gly2686=)
|
rs747362988
|
|
NM_000094.4(COL7A1):c.8067G>A (p.Gly2689=)
|
rs1382571873
|
|
NM_000094.4(COL7A1):c.8094C>A (p.Gly2698=)
|
rs199936185
|
|
NM_000094.4(COL7A1):c.809C>T (p.Thr270Met)
|
|
|
NM_000094.4(COL7A1):c.8100A>G (p.Lys2700=)
|
|
|
NM_000094.4(COL7A1):c.8107C>A (p.Arg2703=)
|
|
|
NM_000094.4(COL7A1):c.8109+10A>G
|
|
|
NM_000094.4(COL7A1):c.8109+11G>T
|
|
|
NM_000094.4(COL7A1):c.8109+16G>C
|
|
|
NM_000094.4(COL7A1):c.8110-10A>G
|
rs2107632881
|
|
NM_000094.4(COL7A1):c.8110-14C>T
|
|
|
NM_000094.4(COL7A1):c.8110-6C>A
|
|
|
NM_000094.4(COL7A1):c.8110-9T>C
|
|
|
NM_000094.4(COL7A1):c.8115C>A (p.Thr2705=)
|
|
|
NM_000094.4(COL7A1):c.8118A>C (p.Pro2706=)
|
|
|
NM_000094.4(COL7A1):c.8118A>G (p.Pro2706=)
|
|
|
NM_000094.4(COL7A1):c.8121A>G (p.Gly2707=)
|
|
|
NM_000094.4(COL7A1):c.8123T>C (p.Ile2708Thr)
|
|
|
NM_000094.4(COL7A1):c.8124T>C (p.Ile2708=)
|
|
|
NM_000094.4(COL7A1):c.8127G>C (p.Gly2709=)
|
rs2043636654
|
|
NM_000094.4(COL7A1):c.813G>T (p.Gly271=)
|
|
|
NM_000094.4(COL7A1):c.8143A>G (p.Ser2715Gly)
|
|
|
NM_000094.4(COL7A1):c.8148A>C (p.Gly2716=)
|
|
|
NM_000094.4(COL7A1):c.8154T>C (p.Asp2718=)
|
rs2107632707
|
|
NM_000094.4(COL7A1):c.8166T>C (p.Gly2722=)
|
rs2107632663
|
|
NM_000094.4(COL7A1):c.8169C>T (p.Pro2723=)
|
rs2107632646
|
|
NM_000094.4(COL7A1):c.8178A>T (p.Pro2726=)
|
|
|
NM_000094.4(COL7A1):c.8193T>C (p.Gly2731=)
|
rs2107632578
|
|
NM_000094.4(COL7A1):c.8197A>C (p.Arg2733=)
|
|
|
NM_000094.4(COL7A1):c.8226+14G>C
|
rs2107632448
|
|
NM_000094.4(COL7A1):c.8226+7G>C
|
rs2107632473
|
|
NM_000094.4(COL7A1):c.8226+8G>A
|
rs570837917
|
|
NM_000094.4(COL7A1):c.8226+8G>T
|
|
|
NM_000094.4(COL7A1):c.8227-8T>C
|
rs2107632111
|
|
NM_000094.4(COL7A1):c.8244C>G (p.Pro2748=)
|
rs749575902
|
|
NM_000094.4(COL7A1):c.8244C>T (p.Pro2748=)
|
rs749575902
|
|
NM_000094.4(COL7A1):c.8256G>A (p.Val2752=)
|
|
|
NM_000094.4(COL7A1):c.8259G>A (p.Val2753=)
|
|
|
NM_000094.4(COL7A1):c.8262G>A (p.Gly2754=)
|
rs2107631945
|
|
NM_000094.4(COL7A1):c.826C>T (p.Leu276=)
|
|
|
NM_000094.4(COL7A1):c.8271G>C (p.Gly2757=)
|
|
|
NM_000094.4(COL7A1):c.8277T>C (p.Pro2759=)
|
rs2107631849
|
|
NM_000094.4(COL7A1):c.8283T>C (p.Ala2761=)
|
rs2107631837
|
|
NM_000094.4(COL7A1):c.8289C>G (p.Gly2763=)
|
rs763764765
|
|
NM_000094.4(COL7A1):c.828G>A (p.Leu276=)
|
|
|
NM_000094.4(COL7A1):c.8298G>A (p.Gly2766=)
|
|
|
NM_000094.4(COL7A1):c.8304+11A>G
|
|
|
NM_000094.4(COL7A1):c.8304+20C>G
|
|
|
NM_000094.4(COL7A1):c.8304+8G>A
|
|
|
NM_000094.4(COL7A1):c.8305-13C>T
|
rs1240561937
|
|
NM_000094.4(COL7A1):c.8305-17C>A
|
|
|
NM_000094.4(COL7A1):c.8305-17C>T
|
|
|
NM_000094.4(COL7A1):c.8305-4A>G
|
|
|
NM_000094.4(COL7A1):c.8305-5C>T
|
|
|
NM_000094.4(COL7A1):c.8305-9T>C
|
rs2107631469
|
|
NM_000094.4(COL7A1):c.8309G>A (p.Arg2770Gln)
|
rs541445877
|
|
NM_000094.4(COL7A1):c.8316G>T (p.Gly2772=)
|
|
|
NM_000094.4(COL7A1):c.831G>A (p.Pro277=)
|
rs749004650
|
|
NM_000094.4(COL7A1):c.831G>C (p.Pro277=)
|
rs749004650
|
|
NM_000094.4(COL7A1):c.8322C>A (p.Ala2774=)
|
rs142948995
|
|
NM_000094.4(COL7A1):c.8331A>G (p.Arg2777=)
|
rs202104980
|
|
NM_000094.4(COL7A1):c.8334C>T (p.Gly2778=)
|
|
|
NM_000094.4(COL7A1):c.8349T>C (p.Ala2783=)
|
rs1282361124
|
|
NM_000094.4(COL7A1):c.8352A>G (p.Ala2784=)
|
|
|
NM_000094.4(COL7A1):c.8355G>A (p.Leu2785=)
|
rs2107631218
|
|
NM_000094.4(COL7A1):c.8355G>C (p.Leu2785=)
|
rs2107631218
|
|
NM_000094.4(COL7A1):c.8355G>T (p.Leu2785=)
|
|
|
NM_000094.4(COL7A1):c.8358+13C>G
|
|
|
NM_000094.4(COL7A1):c.8358+13C>T
|
|
|
NM_000094.4(COL7A1):c.8358+13_8358+14insCCAT
|
|
|
NM_000094.4(COL7A1):c.8358+15G>A
|
|
|
NM_000094.4(COL7A1):c.8358+16G>C
|
|
|
NM_000094.4(COL7A1):c.8358+17_8358+36del
|
|
|
NM_000094.4(COL7A1):c.8358+20G>C
|
|
|
NM_000094.4(COL7A1):c.8358+7G>A
|
|
|
NM_000094.4(COL7A1):c.8359-16G>C
|
|
|
NM_000094.4(COL7A1):c.8359-5C>T
|
|
|
NM_000094.4(COL7A1):c.8361G>A (p.Glu2787=)
|
rs1575416744
|
|
NM_000094.4(COL7A1):c.8384G>A (p.Arg2795His)
|
|
|
NM_000094.4(COL7A1):c.838C>T (p.Arg280Trp)
|
|
|
NM_000094.4(COL7A1):c.839G>A (p.Arg280Gln)
|
|
|
NM_000094.4(COL7A1):c.8403C>T (p.His2801=)
|
|
|
NM_000094.4(COL7A1):c.8407+10G>T
|
rs754593655
|
|
NM_000094.4(COL7A1):c.8407+12C>T
|
rs2107630301
|
|
NM_000094.4(COL7A1):c.8407+14A>C
|
|
|
NM_000094.4(COL7A1):c.8407+18C>G
|
|
|
NM_000094.4(COL7A1):c.8407+19G>A
|
rs368960804
|
|
NM_000094.4(COL7A1):c.8407+19G>T
|
rs368960804
|
|
NM_000094.4(COL7A1):c.8407+7G>A
|
rs534348346
|
|
NM_000094.4(COL7A1):c.8408-11G>C
|
|
|
NM_000094.4(COL7A1):c.8408-19C>T
|
|
|
NM_000094.4(COL7A1):c.8408-32_8408-9dup
|
rs1449605841
|
|
NM_000094.4(COL7A1):c.8408-7C>T
|
|
|
NM_000094.4(COL7A1):c.8427C>A (p.Ile2809=)
|
rs779725201
|
|
NM_000094.4(COL7A1):c.8430A>G (p.Ala2810=)
|
|
|
NM_000094.4(COL7A1):c.8440+10T>C
|
rs2107628318
|
|
NM_000094.4(COL7A1):c.8440+15A>G
|
|
|
NM_000094.4(COL7A1):c.8440+16C>T
|
|
|
NM_000094.4(COL7A1):c.8440+19C>T
|
|
|
NM_000094.4(COL7A1):c.8440+20C>G
|
|
|
NM_000094.4(COL7A1):c.8440+20C>T
|
|
|
NM_000094.4(COL7A1):c.8440+7A>C
|
rs2107628337
|
|
NM_000094.4(COL7A1):c.8441-11C>G
|
rs2043564759
|
|
NM_000094.4(COL7A1):c.8441-20G>T
|
|
|
NM_000094.4(COL7A1):c.8441-4C>G
|
rs1358696525
|
|
NM_000094.4(COL7A1):c.8441-5T>C
|
|
|
NM_000094.4(COL7A1):c.8451T>G (p.Pro2817=)
|
rs2107627845
|
|
NM_000094.4(COL7A1):c.846+13G>A
|
|
|
NM_000094.4(COL7A1):c.846+8G>A
|
rs2107795792
|
|
NM_000094.4(COL7A1):c.8460T>G (p.Ala2820=)
|
|
|
NM_000094.4(COL7A1):c.847-16C>T
|
|
|
NM_000094.4(COL7A1):c.847-18A>G
|
|
|
NM_000094.4(COL7A1):c.847-4G>T
|
|
|
NM_000094.4(COL7A1):c.847-8C>T
|
rs750718273
|
|
NM_000094.4(COL7A1):c.847-9C>G
|
|
|
NM_000094.4(COL7A1):c.8475C>T (p.Gly2825=)
|
rs879469736
|
|
NM_000094.4(COL7A1):c.8484C>G (p.Leu2828=)
|
rs143054969
|
|
NM_000094.4(COL7A1):c.8485C>T (p.His2829Tyr)
|
rs2043561757
|
|
NM_000094.4(COL7A1):c.8496T>A (p.Pro2832=)
|
|
|
NM_000094.4(COL7A1):c.8496T>C (p.Pro2832=)
|
rs765795502
|
|
NM_000094.4(COL7A1):c.8499G>A (p.Val2833=)
|
|
|
NM_000094.4(COL7A1):c.85+10G>A
|
|
|
NM_000094.4(COL7A1):c.85+10G>C
|
|
|
NM_000094.4(COL7A1):c.85+10G>T
|
rs753359572
|
|
NM_000094.4(COL7A1):c.85+14G>A
|
|
|
NM_000094.4(COL7A1):c.85+7A>G
|
rs2107811621
|
|
NM_000094.4(COL7A1):c.85+8C>A
|
rs1407783780
|
|
NM_000094.4(COL7A1):c.85+9C>A
|
|
|
NM_000094.4(COL7A1):c.85+9C>T
|
rs756865365
|
|
NM_000094.4(COL7A1):c.8502C>A (p.Leu2834=)
|
rs201339290
|
|
NM_000094.4(COL7A1):c.8503C>T (p.Arg2835Cys)
|
|
|
NM_000094.4(COL7A1):c.8505C>A (p.Arg2835=)
|
rs748854889
|
|
NM_000094.4(COL7A1):c.8527+12T>G
|
|
|
NM_000094.4(COL7A1):c.8527+16C>A
|
|
|
NM_000094.4(COL7A1):c.8527+18C>A
|
|
|
NM_000094.4(COL7A1):c.8527+18C>T
|
|
|
NM_000094.4(COL7A1):c.8527+19G>A
|
|
|
NM_000094.4(COL7A1):c.8527+8C>T
|
|
|
NM_000094.4(COL7A1):c.8527+9A>C
|
rs780284810
|
|
NM_000094.4(COL7A1):c.8527+9A>G
|
rs780284810
|
|
NM_000094.4(COL7A1):c.8527+9_8527+10inv
|
|
|
NM_000094.4(COL7A1):c.8528-10C>T
|
|
|
NM_000094.4(COL7A1):c.8528-11C>T
|
|
|
NM_000094.4(COL7A1):c.8528-15C>G
|
|
|
NM_000094.4(COL7A1):c.8528-17C>A
|
|
|
NM_000094.4(COL7A1):c.8532G>C (p.Arg2844=)
|
rs2107626759
|
|
NM_000094.4(COL7A1):c.8536C>T (p.Pro2846Ser)
|
|
|
NM_000094.4(COL7A1):c.8538C>T (p.Pro2846=)
|
rs1217432503
|
|
NM_000094.4(COL7A1):c.8539C>G (p.Pro2847Ala)
|
rs140041143
|
|
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser)
|
rs140041143
|
|
NM_000094.4(COL7A1):c.8540C>G (p.Pro2847Arg)
|
rs747790197
|
|
NM_000094.4(COL7A1):c.8544G>A (p.Glu2848=)
|
|
|
NM_000094.4(COL7A1):c.854T>C (p.Val285Ala)
|
|
|
NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)
|
rs372166543
|
|
NM_000094.4(COL7A1):c.8580G>A (p.Val2860=)
|
|
|
NM_000094.4(COL7A1):c.8583G>A (p.Glu2861=)
|
rs368947460
|
|
NM_000094.4(COL7A1):c.8586G>A (p.Glu2862=)
|
rs1575414713
|
|
NM_000094.4(COL7A1):c.86-4C>T
|
|
|
NM_000094.4(COL7A1):c.86-5C>T
|
rs1314402349
|
|
NM_000094.4(COL7A1):c.86-8C>G
|
rs1012398135
|
|
NM_000094.4(COL7A1):c.86-9C>A
|
|
|
NM_000094.4(COL7A1):c.8601A>G (p.Glu2867=)
|
|
|
NM_000094.4(COL7A1):c.8604T>C (p.Ala2868=)
|
|
|
NM_000094.4(COL7A1):c.8620+10G>A
|
rs2107626390
|
|
NM_000094.4(COL7A1):c.8620+11G>C
|
|
|
NM_000094.4(COL7A1):c.8620+13G>A
|
|
|
NM_000094.4(COL7A1):c.8620+15C>T
|
|
|
NM_000094.4(COL7A1):c.8620+18_8620+19insCAC
|
|
|
NM_000094.4(COL7A1):c.8620+18_8620+19insCGT
|
|
|
NM_000094.4(COL7A1):c.8620+18_8620+19insCTC
|
rs138595277
|
|
NM_000094.4(COL7A1):c.8620+20A>G
|
|
|
NM_000094.4(COL7A1):c.8620+26G>A
|
|
|
NM_000094.4(COL7A1):c.8620+8T>C
|
rs2107626397
|
|
NM_000094.4(COL7A1):c.8621-10A>G
|
|
|
NM_000094.4(COL7A1):c.8621-11C>T
|
|
|
NM_000094.4(COL7A1):c.8621-12C>G
|
|
|
NM_000094.4(COL7A1):c.8621-13C>T
|
|
|
NM_000094.4(COL7A1):c.8621-20A>G
|
|
|
NM_000094.4(COL7A1):c.8621-3del
|
|
|
NM_000094.4(COL7A1):c.8621-5C>A
|
rs2107625767
|
|
NM_000094.4(COL7A1):c.8621-5C>T
|
rs2107625767
|
|
NM_000094.4(COL7A1):c.8621-9T>C
|
rs2107625791
|
|
NM_000094.4(COL7A1):c.8634G>A (p.Leu2878=)
|
|
|
NM_000094.4(COL7A1):c.8664C>T (p.Tyr2888=)
|
rs2043535071
|
|
NM_000094.4(COL7A1):c.8667C>G (p.Thr2889=)
|
rs2107625597
|
|
NM_000094.4(COL7A1):c.8667C>T (p.Thr2889=)
|
|
|
NM_000094.4(COL7A1):c.866A>G (p.Glu289Gly)
|
|
|
NM_000094.4(COL7A1):c.8670G>A (p.Leu2890=)
|
|
|
NM_000094.4(COL7A1):c.8673C>T (p.Arg2891=)
|
|
|
NM_000094.4(COL7A1):c.8685G>A (p.Arg2895=)
|
|
|
NM_000094.4(COL7A1):c.8685G>T (p.Arg2895=)
|
rs2107625504
|
|
NM_000094.4(COL7A1):c.8707G>A (p.Ala2903Thr)
|
|
|
NM_000094.4(COL7A1):c.8709C>G (p.Ala2903=)
|
rs140781372
|
|
NM_000094.4(COL7A1):c.873T>C (p.Ser291=)
|
rs2107795279
|
|
NM_000094.4(COL7A1):c.8745T>C (p.Asn2915=)
|
|
|
NM_000094.4(COL7A1):c.8748C>T (p.Ala2916=)
|
|
|
NM_000094.4(COL7A1):c.8757T>C (p.Phe2919=)
|
|
|
NM_000094.4(COL7A1):c.8760G>A (p.Gly2920=)
|
rs2107625339
|
|
NM_000094.4(COL7A1):c.8763C>G (p.Thr2921=)
|
rs2107625326
|
|
NM_000094.4(COL7A1):c.8769G>A (p.Glu2923=)
|
rs2107625297
|
|
NM_000094.4(COL7A1):c.876G>A (p.Val292=)
|
rs767909655
|
|
NM_000094.4(COL7A1):c.877C>T (p.Arg293Trp)
|
|
|
NM_000094.4(COL7A1):c.8790A>T (p.Pro2930=)
|
|
|
NM_000094.4(COL7A1):c.8793C>T (p.Pro2931=)
|
|
|
NM_000094.4(COL7A1):c.8794C>T (p.Arg2932Trp)
|
|
|
NM_000094.4(COL7A1):c.8796G>A (p.Arg2932=)
|
|
|
NM_000094.4(COL7A1):c.8796G>T (p.Arg2932=)
|
|
|
NM_000094.4(COL7A1):c.879G>A (p.Arg293=)
|
|
|
NM_000094.4(COL7A1):c.87G>A (p.Val29=)
|
rs1389015173
|
|
NM_000094.4(COL7A1):c.87G>T (p.Val29=)
|
rs1389015173
|
|
NM_000094.4(COL7A1):c.8802C>T (p.Val2934=)
|
|
|
NM_000094.4(COL7A1):c.8814G>A (p.Gly2938=)
|
rs2107625132
|
|
NM_000094.4(COL7A1):c.8818+14C>A
|
|
|
NM_000094.4(COL7A1):c.8818+17C>G
|
|
|
NM_000094.4(COL7A1):c.8818+20C>T
|
|
|
NM_000094.4(COL7A1):c.8818+9T>C
|
|
|
NM_000094.4(COL7A1):c.8819-18C>A
|
|
|
NM_000094.4(COL7A1):c.8819-8C>G
|
|
|
NM_000094.4(COL7A1):c.8819-9C>T
|
|
|
NM_000094.4(COL7A1):c.882G>A (p.Leu294=)
|
|
|
NM_000094.4(COL7A1):c.8834G>A (p.Ter2945=)
|
|
|
NM_000094.4(COL7A1):c.884G>A (p.Arg295Gln)
|
|
|
NM_000094.4(COL7A1):c.885G>A (p.Arg295=)
|
|
|
NM_000094.4(COL7A1):c.885G>T (p.Arg295=)
|
|
|
NM_000094.4(COL7A1):c.888T>C (p.Gly296=)
|
rs1575492483
|
|
NM_000094.4(COL7A1):c.909C>T (p.Tyr303=)
|
rs1559438075
|
|
NM_000094.4(COL7A1):c.921G>C (p.Val307=)
|
rs2107794849
|
|
NM_000094.4(COL7A1):c.934G>A (p.Ala312Thr)
|
|
|
NM_000094.4(COL7A1):c.939C>T (p.Asn313=)
|
|
|
NM_000094.4(COL7A1):c.942C>T (p.Ser314=)
|
rs2107794588
|
|
NM_000094.4(COL7A1):c.946G>A (p.Gly316Arg)
|
|
|
NM_000094.4(COL7A1):c.948G>A (p.Gly316=)
|
rs2107794513
|
|
NM_000094.4(COL7A1):c.963G>A (p.Gly321=)
|
|
|
NM_000094.4(COL7A1):c.971G>A (p.Arg324Gln)
|
|
|
NM_000094.4(COL7A1):c.976+11C>A
|
|
|
NM_000094.4(COL7A1):c.976+14C>T
|
|
|
NM_000094.4(COL7A1):c.976+15C>T
|
|
|
NM_000094.4(COL7A1):c.976+19C>A
|
|
|
NM_000094.4(COL7A1):c.976+8A>T
|
|
|
NM_000094.4(COL7A1):c.977-13G>T
|
|
|
NM_000094.4(COL7A1):c.977-19T>G
|
|
|
NM_000094.4(COL7A1):c.977-4C>G
|
rs2045773065
|
|
NM_000094.4(COL7A1):c.977-7C>A
|
|
|
NM_000094.4(COL7A1):c.977-8dup
|
rs1559437480
|
|
NM_000094.4(COL7A1):c.997C>T (p.Leu333=)
|
rs2107793388
|
|
NM_000094.4(COL7A1):c.99C>A (p.Arg33=)
|
rs1179008961
|
|
NM_000094.4(COL7A1):c.99C>G (p.Arg33=)
|
|
|