NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=)
|
rs61729223
|
0.01181
|
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
NM_000094.4(COL7A1):c.5259C>T (p.Pro1753=)
|
rs151261530
|
0.00267
|
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His)
|
rs149011081
|
0.00166
|
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.8371C>T (p.Arg2791Trp)
|
rs142566193
|
0.00109
|
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu)
|
rs149267939
|
0.00098
|
NM_000094.4(COL7A1):c.8568C>T (p.Ser2856=)
|
rs148454724
|
0.00093
|
NM_000094.4(COL7A1):c.8530C>T (p.Arg2844Trp)
|
rs138002006
|
0.00089
|
NM_000094.4(COL7A1):c.7353T>C (p.Pro2451=)
|
rs139461888
|
0.00077
|
NM_000094.4(COL7A1):c.2010C>T (p.Gly670=)
|
rs74861804
|
0.00068
|
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.5343C>T (p.Ser1781=)
|
rs147919436
|
0.00057
|
NM_000094.4(COL7A1):c.8504G>A (p.Arg2835His)
|
rs139014122
|
0.00057
|
NM_000094.4(COL7A1):c.4818+11G>A
|
rs199647542
|
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.5572G>A (p.Glu1858Lys)
|
rs147633212
|
0.00050
|
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.4636G>C (p.Gly1546Arg)
|
rs73831831
|
0.00045
|
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.2544C>T (p.Val848=)
|
rs139545952
|
0.00041
|
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.5956G>A (p.Glu1986Lys)
|
rs144208360
|
0.00035
|
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.2993-13C>G
|
rs371738291
|
0.00032
|
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.853G>A (p.Val285Ile)
|
rs142568125
|
0.00030
|
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.7124T>A (p.Val2375Asp)
|
rs142059751
|
0.00026
|
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met)
|
rs376090628
|
0.00025
|
NM_000094.4(COL7A1):c.4636-3C>T
|
rs200981821
|
0.00024
|
NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys)
|
rs199819125
|
0.00024
|
NM_000094.4(COL7A1):c.8240C>T (p.Pro2747Leu)
|
rs139566877
|
0.00023
|
NM_000094.4(COL7A1):c.1241-4G>A
|
rs201605314
|
0.00021
|
NM_000094.4(COL7A1):c.4508C>T (p.Ala1503Val)
|
rs150332158
|
0.00021
|
NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His)
|
rs150903058
|
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.4987C>A (p.Pro1663Thr)
|
rs149342284
|
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.6502-10C>G
|
rs200193957
|
0.00018
|
NM_000094.4(COL7A1):c.7615-6A>T
|
rs777157837
|
0.00017
|
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
|
rs143352280
|
0.00016
|
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)
|
rs2229820
|
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.59G>C (p.Arg20Pro)
|
rs755340663
|
0.00015
|
NM_000094.4(COL7A1):c.630C>T (p.Leu210=)
|
rs117857033
|
0.00015
|
NM_000094.4(COL7A1):c.3840C>T (p.Thr1280=)
|
rs369839378
|
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.7510C>T (p.Arg2504Cys)
|
rs201897441
|
0.00014
|
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=)
|
rs144756110
|
0.00013
|
NM_000094.4(COL7A1):c.5798G>A (p.Arg1933Gln)
|
rs201722048
|
0.00013
|
NM_000094.4(COL7A1):c.8359-17T>A
|
rs200207978
|
0.00013
|
NM_000094.4(COL7A1):c.4780C>T (p.Arg1594Trp)
|
rs267599859
|
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.4859G>A (p.Arg1620Gln)
|
rs373682717
|
0.00011
|
NM_000094.4(COL7A1):c.4889G>A (p.Arg1630Gln)
|
rs201196696
|
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.543G>A (p.Glu181=)
|
rs372458548
|
0.00010
|
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=)
|
rs200972872
|
0.00010
|
NM_000094.4(COL7A1):c.6081C>T (p.Pro2027=)
|
rs375047225
|
0.00010
|
NM_000094.4(COL7A1):c.8095G>A (p.Glu2699Lys)
|
rs200938473
|
0.00010
|
NM_000094.4(COL7A1):c.215C>A (p.Ala72Asp)
|
rs138319290
|
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.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.6388G>A (p.Asp2130Asn)
|
rs375909549
|
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.7674C>T (p.Asp2558=)
|
rs201140493
|
0.00009
|
NM_000094.4(COL7A1):c.8037C>T (p.Ile2679=)
|
rs112974441
|
0.00009
|
NM_000094.4(COL7A1):c.1604C>A (p.Thr535Asn)
|
rs200868430
|
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.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.3112C>T (p.Pro1038Ser)
|
rs148291967
|
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.8007G>C (p.Gln2669His)
|
rs369881673
|
0.00007
|
NM_000094.4(COL7A1):c.1070G>A (p.Arg357His)
|
rs368155479
|
0.00006
|
NM_000094.4(COL7A1):c.128T>C (p.Leu43Pro)
|
rs149317921
|
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.2431C>T (p.Arg811Trp)
|
rs551951844
|
0.00006
|
NM_000094.4(COL7A1):c.2666C>T (p.Pro889Leu)
|
rs146783561
|
0.00006
|
NM_000094.4(COL7A1):c.3566T>C (p.Met1189Thr)
|
rs371470848
|
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.4720C>T (p.Arg1574Trp)
|
rs773815805
|
0.00006
|
NM_000094.4(COL7A1):c.5368G>A (p.Ala1790Thr)
|
rs780506505
|
0.00006
|
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=)
|
rs779298653
|
0.00006
|
NM_000094.4(COL7A1):c.6021C>A (p.Asp2007Glu)
|
rs199603961
|
0.00006
|
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala)
|
rs372838887
|
0.00006
|
NM_000094.4(COL7A1):c.7036C>T (p.Arg2346Cys)
|
rs145729761
|
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.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.314G>A (p.Arg105His)
|
rs370534336
|
0.00005
|
NM_000094.4(COL7A1):c.3158C>T (p.Ala1053Val)
|
rs574853557
|
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.5092G>A (p.Glu1698Lys)
|
rs2044652657
|
0.00005
|
NM_000094.4(COL7A1):c.5339G>A (p.Arg1780Gln)
|
rs765367177
|
0.00005
|
NM_000094.4(COL7A1):c.5384C>T (p.Pro1795Leu)
|
rs746987799
|
0.00005
|
NM_000094.4(COL7A1):c.5465C>T (p.Pro1822Leu)
|
rs781197075
|
0.00005
|
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His)
|
rs768326843
|
0.00005
|
NM_000094.4(COL7A1):c.7050C>T (p.Pro2350=)
|
rs773855741
|
0.00005
|
NM_000094.4(COL7A1):c.7120G>A (p.Gly2374Arg)
|
rs181430415
|
0.00005
|
NM_000094.4(COL7A1):c.7794G>A (p.Pro2598=)
|
rs377067446
|
0.00005
|
NM_000094.4(COL7A1):c.8428G>A (p.Ala2810Thr)
|
rs143995717
|
0.00005
|
NM_000094.4(COL7A1):c.8803C>T (p.Gln2935Ter)
|
rs767051948
|
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.1777C>T (p.Arg593Trp)
|
rs202239292
|
0.00004
|
NM_000094.4(COL7A1):c.2503G>A (p.Glu835Lys)
|
rs748398314
|
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.3412G>A (p.Val1138Met)
|
rs145048666
|
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.4024C>T (p.Pro1342Ser)
|
rs200290149
|
0.00004
|
NM_000094.4(COL7A1):c.427-14T>C
|
rs552110604
|
0.00004
|
NM_000094.4(COL7A1):c.4274T>C (p.Leu1425Pro)
|
rs745975162
|
0.00004
|
NM_000094.4(COL7A1):c.4391C>T (p.Pro1464Leu)
|
rs763147984
|
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.4561G>C (p.Glu1521Gln)
|
rs373745858
|
0.00004
|
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=)
|
rs573530168
|
0.00004
|
NM_000094.4(COL7A1):c.5097G>A (p.Pro1699=)
|
rs369034739
|
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.5929C>T (p.Arg1977Cys)
|
rs765130674
|
0.00004
|
NM_000094.4(COL7A1):c.6216+9C>T
|
rs200855943
|
0.00004
|
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
|
rs138626345
|
0.00004
|
NM_000094.4(COL7A1):c.663C>T (p.Gly221=)
|
rs367607652
|
0.00004
|
NM_000094.4(COL7A1):c.7048C>T (p.Pro2350Ser)
|
rs749870307
|
0.00004
|
NM_000094.4(COL7A1):c.7689C>T (p.Gly2563=)
|
rs779995041
|
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.8206G>A (p.Glu2736Lys)
|
rs779942952
|
0.00004
|
NM_000094.4(COL7A1):c.8290G>A (p.Glu2764Lys)
|
rs141883531
|
0.00004
|
NM_000094.4(COL7A1):c.8401C>T (p.His2801Tyr)
|
rs375653257
|
0.00004
|
NM_000094.4(COL7A1):c.8473G>A (p.Gly2825Ser)
|
rs139308059
|
0.00004
|
NM_000094.4(COL7A1):c.1186A>T (p.Ser396Cys)
|
rs202192755
|
0.00003
|
NM_000094.4(COL7A1):c.1202G>T (p.Arg401Leu)
|
rs757929353
|
0.00003
|
NM_000094.4(COL7A1):c.1370C>T (p.Pro457Leu)
|
rs200396882
|
0.00003
|
NM_000094.4(COL7A1):c.1624C>T (p.Arg542Cys)
|
rs780602305
|
0.00003
|
NM_000094.4(COL7A1):c.1936G>C (p.Asp646His)
|
rs765663530
|
0.00003
|
NM_000094.4(COL7A1):c.1970C>G (p.Pro657Arg)
|
rs369972686
|
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.2587C>T (p.Pro863Ser)
|
rs757643340
|
0.00003
|
NM_000094.4(COL7A1):c.2887C>T (p.Arg963Cys)
|
rs773083989
|
0.00003
|
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile)
|
rs562548943
|
0.00003
|
NM_000094.4(COL7A1):c.3841G>A (p.Gly1281Ser)
|
rs569641113
|
0.00003
|
NM_000094.4(COL7A1):c.3999T>C (p.Pro1333=)
|
rs756134134
|
0.00003
|
NM_000094.4(COL7A1):c.4329G>T (p.Lys1443Asn)
|
rs752495777
|
0.00003
|
NM_000094.4(COL7A1):c.4782+9A>T
|
rs369635501
|
0.00003
|
NM_000094.4(COL7A1):c.4996C>T (p.Arg1666Trp)
|
rs764442838
|
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.6261C>A (p.Pro2087=)
|
rs761393259
|
0.00003
|
NM_000094.4(COL7A1):c.6293A>C (p.Glu2098Ala)
|
rs886058635
|
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.6723G>A (p.Gln2241=)
|
rs775756645
|
0.00003
|
NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala)
|
rs772457877
|
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.7939G>A (p.Gly2647Ser)
|
rs749788045
|
0.00003
|
NM_000094.4(COL7A1):c.8054G>C (p.Arg2685Pro)
|
rs886058630
|
0.00003
|
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=)
|
rs763764765
|
0.00003
|
NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=)
|
rs748854889
|
0.00003
|
NM_000094.4(COL7A1):c.8783G>A (p.Arg2928His)
|
rs758740269
|
0.00003
|
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His)
|
rs147040026
|
0.00002
|
NM_000094.4(COL7A1):c.1785G>A (p.Pro595=)
|
rs749549682
|
0.00002
|
NM_000094.4(COL7A1):c.1860C>T (p.Pro620=)
|
rs369313576
|
0.00002
|
NM_000094.4(COL7A1):c.2169C>T (p.His723=)
|
rs147643230
|
0.00002
|
NM_000094.4(COL7A1):c.2249C>T (p.Thr750Met)
|
rs377763372
|
0.00002
|
NM_000094.4(COL7A1):c.2376A>G (p.Leu792=)
|
rs754120044
|
0.00002
|
NM_000094.4(COL7A1):c.2545G>A (p.Gly849Arg)
|
rs367797946
|
0.00002
|
NM_000094.4(COL7A1):c.2596G>T (p.Ala866Ser)
|
rs779814851
|
0.00002
|
NM_000094.4(COL7A1):c.2645C>T (p.Ser882Leu)
|
rs372767169
|
0.00002
|
NM_000094.4(COL7A1):c.2710G>T (p.Gly904Cys)
|
rs781144604
|
0.00002
|
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)
|
rs773201784
|
0.00002
|
NM_000094.4(COL7A1):c.3152G>A (p.Gly1051Asp)
|
rs373817004
|
0.00002
|
NM_000094.4(COL7A1):c.3182C>T (p.Ala1061Val)
|
rs553468091
|
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.3602G>A (p.Arg1201His)
|
rs189206728
|
0.00002
|
NM_000094.4(COL7A1):c.3753T>C (p.Cys1251=)
|
rs764349883
|
0.00002
|
NM_000094.4(COL7A1):c.4228C>T (p.Pro1410Ser)
|
rs778098950
|
0.00002
|
NM_000094.4(COL7A1):c.4518+7C>T
|
rs377114408
|
0.00002
|
NM_000094.4(COL7A1):c.4605G>C (p.Glu1535Asp)
|
rs1285793084
|
0.00002
|
NM_000094.4(COL7A1):c.4636-9T>C
|
rs760840151
|
0.00002
|
NM_000094.4(COL7A1):c.477T>C (p.Ala159=)
|
rs910778254
|
0.00002
|
NM_000094.4(COL7A1):c.4934C>T (p.Pro1645Leu)
|
rs764468586
|
0.00002
|
NM_000094.4(COL7A1):c.5087G>A (p.Arg1696His)
|
rs749128852
|
0.00002
|
NM_000094.4(COL7A1):c.5350G>C (p.Asp1784His)
|
rs200632851
|
0.00002
|
NM_000094.4(COL7A1):c.5427G>A (p.Gly1809=)
|
rs770678998
|
0.00002
|
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His)
|
rs756258247
|
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.5913G>T (p.Leu1971=)
|
rs754578634
|
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.6091G>A (p.Gly2031Ser)
|
rs121912838
|
0.00002
|
NM_000094.4(COL7A1):c.611T>C (p.Leu204Ser)
|
rs745939385
|
0.00002
|
NM_000094.4(COL7A1):c.6714+3G>A
|
rs1446545673
|
0.00002
|
NM_000094.4(COL7A1):c.7068+5G>A
|
rs779875751
|
0.00002
|
NM_000094.4(COL7A1):c.707G>A (p.Arg236Gln)
|
rs773361013
|
0.00002
|
NM_000094.4(COL7A1):c.7196C>T (p.Ala2399Val)
|
rs751885031
|
0.00002
|
NM_000094.4(COL7A1):c.7521+9G>A
|
rs769808777
|
0.00002
|
NM_000094.4(COL7A1):c.7882C>T (p.Arg2628Trp)
|
rs376588113
|
0.00002
|
NM_000094.4(COL7A1):c.8187T>G (p.Ser2729Arg)
|
rs528281412
|
0.00002
|
NM_000094.4(COL7A1):c.8227-9G>A
|
rs766585624
|
0.00002
|
NM_000094.4(COL7A1):c.8407+10G>A
|
rs754593655
|
0.00002
|
NM_000094.4(COL7A1):c.1213C>G (p.Pro405Ala)
|
rs757132559
|
0.00001
|
NM_000094.4(COL7A1):c.1346G>A (p.Arg449Gln)
|
rs764504901
|
0.00001
|
NM_000094.4(COL7A1):c.1403G>A (p.Arg468His)
|
rs768672251
|
0.00001
|
NM_000094.4(COL7A1):c.1529C>T (p.Pro510Leu)
|
rs200313202
|
0.00001
|
NM_000094.4(COL7A1):c.1561G>A (p.Gly521Arg)
|
rs1383489466
|
0.00001
|
NM_000094.4(COL7A1):c.158A>G (p.Asn53Ser)
|
rs772466271
|
0.00001
|
NM_000094.4(COL7A1):c.1631C>G (p.Thr544Ser)
|
rs763775614
|
0.00001
|
NM_000094.4(COL7A1):c.1717G>C (p.Val573Leu)
|
rs1286113919
|
0.00001
|
NM_000094.4(COL7A1):c.1720C>T (p.Arg574Trp)
|
rs200762860
|
0.00001
|
NM_000094.4(COL7A1):c.1735G>C (p.Val579Leu)
|
rs1311575300
|
0.00001
|
NM_000094.4(COL7A1):c.1774C>T (p.Arg592Cys)
|
rs147470888
|
0.00001
|
NM_000094.4(COL7A1):c.1841T>C (p.Val614Ala)
|
rs1361271599
|
0.00001
|
NM_000094.4(COL7A1):c.1997C>T (p.Ser666Leu)
|
rs748075413
|
0.00001
|
NM_000094.4(COL7A1):c.2016G>C (p.Glu672Asp)
|
rs754341326
|
0.00001
|
NM_000094.4(COL7A1):c.2035A>G (p.Ile679Val)
|
rs751176402
|
0.00001
|
NM_000094.4(COL7A1):c.2064A>G (p.Pro688=)
|
rs774502545
|
0.00001
|
NM_000094.4(COL7A1):c.2125G>T (p.Val709Phe)
|
rs758686564
|
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.2315-3C>T
|
rs1042769826
|
0.00001
|
NM_000094.4(COL7A1):c.2377C>T (p.Arg793Trp)
|
rs778104401
|
0.00001
|
NM_000094.4(COL7A1):c.2384C>T (p.Thr795Ile)
|
rs1338660252
|
0.00001
|
NM_000094.4(COL7A1):c.2446C>G (p.Pro816Ala)
|
rs200336324
|
0.00001
|
NM_000094.4(COL7A1):c.2557G>A (p.Gly853Ser)
|
rs773229775
|
0.00001
|
NM_000094.4(COL7A1):c.2588C>T (p.Pro863Leu)
|
rs968625343
|
0.00001
|
NM_000094.4(COL7A1):c.2633G>A (p.Arg878His)
|
rs775718981
|
0.00001
|
NM_000094.4(COL7A1):c.2709G>A (p.Glu903=)
|
rs2045429277
|
0.00001
|
NM_000094.4(COL7A1):c.2743G>A (p.Glu915Lys)
|
rs747337505
|
0.00001
|
NM_000094.4(COL7A1):c.2852G>A (p.Arg951His)
|
rs540205999
|
0.00001
|
NM_000094.4(COL7A1):c.2858-3C>T
|
rs928128124
|
0.00001
|
NM_000094.4(COL7A1):c.2866C>T (p.Arg956Cys)
|
rs200769466
|
0.00001
|
NM_000094.4(COL7A1):c.2888G>A (p.Arg963His)
|
rs776204399
|
0.00001
|
NM_000094.4(COL7A1):c.28C>T (p.Leu10Phe)
|
rs1346272373
|
0.00001
|
NM_000094.4(COL7A1):c.2968C>T (p.Arg990Trp)
|
rs763751979
|
0.00001
|
NM_000094.4(COL7A1):c.3016C>T (p.Leu1006Phe)
|
rs1305255095
|
0.00001
|
NM_000094.4(COL7A1):c.302G>T (p.Gly101Val)
|
rs973642161
|
0.00001
|
NM_000094.4(COL7A1):c.3118G>A (p.Ala1040Thr)
|
rs113041019
|
0.00001
|
NM_000094.4(COL7A1):c.3132G>C (p.Gln1044His)
|
rs1486508439
|
0.00001
|
NM_000094.4(COL7A1):c.313C>T (p.Arg105Cys)
|
rs778085630
|
0.00001
|
NM_000094.4(COL7A1):c.3140-3C>A
|
rs763870721
|
0.00001
|
NM_000094.4(COL7A1):c.3181G>A (p.Ala1061Thr)
|
rs778942747
|
0.00001
|
NM_000094.4(COL7A1):c.3287T>A (p.Leu1096Gln)
|
rs1474365354
|
0.00001
|
NM_000094.4(COL7A1):c.3301C>T (p.Arg1101Trp)
|
rs777235438
|
0.00001
|
NM_000094.4(COL7A1):c.3374C>T (p.Pro1125Leu)
|
rs1357938616
|
0.00001
|
NM_000094.4(COL7A1):c.3461G>A (p.Arg1154His)
|
rs201389550
|
0.00001
|
NM_000094.4(COL7A1):c.3496G>A (p.Asp1166Asn)
|
rs759356363
|
0.00001
|
NM_000094.4(COL7A1):c.3601C>T (p.Arg1201Cys)
|
rs755769656
|
0.00001
|
NM_000094.4(COL7A1):c.3604C>T (p.Arg1202Cys)
|
rs754979304
|
0.00001
|
NM_000094.4(COL7A1):c.3673G>C (p.Ala1225Pro)
|
rs199679997
|
0.00001
|
NM_000094.4(COL7A1):c.3724-4G>A
|
rs374283437
|
0.00001
|
NM_000094.4(COL7A1):c.3727C>T (p.Arg1243Trp)
|
rs1189017197
|
0.00001
|
NM_000094.4(COL7A1):c.3750T>C (p.Tyr1250=)
|
rs558659528
|
0.00001
|
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=)
|
rs778777140
|
0.00001
|
NM_000094.4(COL7A1):c.3831+3G>A
|
rs767241808
|
0.00001
|
NM_000094.4(COL7A1):c.3872G>A (p.Ser1291Asn)
|
rs748019757
|
0.00001
|
NM_000094.4(COL7A1):c.3875C>T (p.Ala1292Val)
|
rs776493858
|
0.00001
|
NM_000094.4(COL7A1):c.3888C>T (p.Gly1296=)
|
rs375511803
|
0.00001
|
NM_000094.4(COL7A1):c.4048-15T>A
|
rs367995901
|
0.00001
|
NM_000094.4(COL7A1):c.4119+11G>A
|
rs202225012
|
0.00001
|
NM_000094.4(COL7A1):c.4162C>T (p.Arg1388Cys)
|
rs565472139
|
0.00001
|
NM_000094.4(COL7A1):c.4209C>T (p.Gly1403=)
|
rs759186064
|
0.00001
|
NM_000094.4(COL7A1):c.4214G>A (p.Arg1405His)
|
rs2045011505
|
0.00001
|
NM_000094.4(COL7A1):c.4223G>A (p.Arg1408Gln)
|
rs576204059
|
0.00001
|
NM_000094.4(COL7A1):c.4264G>A (p.Glu1422Lys)
|
rs369814181
|
0.00001
|
NM_000094.4(COL7A1):c.4278G>A (p.Pro1426=)
|
rs749738987
|
0.00001
|
NM_000094.4(COL7A1):c.4282C>A (p.Leu1428Ile)
|
rs770956294
|
0.00001
|
NM_000094.4(COL7A1):c.4484G>T (p.Gly1495Val)
|
rs1381334911
|
0.00001
|
NM_000094.4(COL7A1):c.4540C>T (p.Arg1514Cys)
|
rs1170025132
|
0.00001
|
NM_000094.4(COL7A1):c.4615C>T (p.Pro1539Ser)
|
rs775437783
|
0.00001
|
NM_000094.4(COL7A1):c.4635+10G>A
|
rs749722600
|
0.00001
|
NM_000094.4(COL7A1):c.469G>A (p.Asp157Asn)
|
rs767282486
|
0.00001
|
NM_000094.4(COL7A1):c.4708G>A (p.Val1570Ile)
|
rs2044772508
|
0.00001
|
NM_000094.4(COL7A1):c.4782+3G>A
|
rs373084149
|
0.00001
|
NM_000094.4(COL7A1):c.4818+18T>A
|
rs368227259
|
0.00001
|
NM_000094.4(COL7A1):c.4858C>T (p.Arg1620Trp)
|
rs781705982
|
0.00001
|
NM_000094.4(COL7A1):c.4899+31G>A
|
rs370500985
|
0.00001
|
NM_000094.4(COL7A1):c.4997G>A (p.Arg1666Gln)
|
rs1028574312
|
0.00001
|
NM_000094.4(COL7A1):c.5005G>A (p.Val1669Met)
|
rs1486869403
|
0.00001
|
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu)
|
rs121912845
|
0.00001
|
NM_000094.4(COL7A1):c.5098-5C>T
|
rs886058637
|
0.00001
|
NM_000094.4(COL7A1):c.5173G>A (p.Gly1725Arg)
|
rs772195825
|
0.00001
|
NM_000094.4(COL7A1):c.5291G>C (p.Gly1764Ala)
|
rs1057520568
|
0.00001
|
NM_000094.4(COL7A1):c.5315G>A (p.Arg1772Gln)
|
rs1016459702
|
0.00001
|
NM_000094.4(COL7A1):c.5387A>G (p.Asn1796Ser)
|
rs973076467
|
0.00001
|
NM_000094.4(COL7A1):c.5559C>T (p.Asp1853=)
|
rs776433840
|
0.00001
|
NM_000094.4(COL7A1):c.556G>T (p.Val186Phe)
|
rs2045838430
|
0.00001
|
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=)
|
rs371009419
|
0.00001
|
NM_000094.4(COL7A1):c.5701G>A (p.Gly1901Ser)
|
rs762189891
|
0.00001
|
NM_000094.4(COL7A1):c.5933G>A (p.Arg1978Gln)
|
rs754315799
|
0.00001
|
NM_000094.4(COL7A1):c.5979+4A>T
|
rs749607047
|
0.00001
|
NM_000094.4(COL7A1):c.6041A>C (p.Gln2014Pro)
|
rs755954867
|
0.00001
|
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=)
|
rs763329165
|
0.00001
|
NM_000094.4(COL7A1):c.6113A>G (p.Lys2038Arg)
|
rs749235923
|
0.00001
|
NM_000094.4(COL7A1):c.6130C>T (p.Leu2044Phe)
|
rs756037004
|
0.00001
|
NM_000094.4(COL7A1):c.6170C>T (p.Pro2057Leu)
|
rs2044220324
|
0.00001
|
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu)
|
rs377112899
|
0.00001
|
NM_000094.4(COL7A1):c.631G>A (p.Val211Ile)
|
rs557797952
|
0.00001
|
NM_000094.4(COL7A1):c.6395G>A (p.Gly2132Asp)
|
rs755669902
|
0.00001
|
NM_000094.4(COL7A1):c.6447C>T (p.Asp2149=)
|
rs199843749
|
0.00001
|
NM_000094.4(COL7A1):c.6456G>A (p.Pro2152=)
|
rs746447568
|
0.00001
|
NM_000094.4(COL7A1):c.6457-11A>G
|
rs776269680
|
0.00001
|
NM_000094.4(COL7A1):c.6457-3C>T
|
rs1175388777
|
0.00001
|
NM_000094.4(COL7A1):c.6465A>G (p.Pro2155=)
|
rs1266041812
|
0.00001
|
NM_000094.4(COL7A1):c.6501+8G>T
|
rs201392891
|
0.00001
|
NM_000094.4(COL7A1):c.6526C>T (p.Pro2176Ser)
|
rs755178152
|
0.00001
|
NM_000094.4(COL7A1):c.6546T>G (p.His2182Gln)
|
rs1459217638
|
0.00001
|
NM_000094.4(COL7A1):c.6565G>C (p.Gly2189Arg)
|
rs1355721102
|
0.00001
|
NM_000094.4(COL7A1):c.6649C>T (p.Arg2217Trp)
|
rs546653276
|
0.00001
|
NM_000094.4(COL7A1):c.6717T>G (p.Gly2239=)
|
rs1425057780
|
0.00001
|
NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe)
|
rs575575729
|
0.00001
|
NM_000094.4(COL7A1):c.674C>T (p.Thr225Ile)
|
rs764789081
|
0.00001
|
NM_000094.4(COL7A1):c.680C>G (p.Pro227Arg)
|
rs1450480489
|
0.00001
|
NM_000094.4(COL7A1):c.6884C>T (p.Thr2295Met)
|
rs757102252
|
0.00001
|
NM_000094.4(COL7A1):c.6910G>A (p.Gly2304Arg)
|
rs1461460130
|
0.00001
|
NM_000094.4(COL7A1):c.6943C>G (p.Pro2315Ala)
|
rs1434362269
|
0.00001
|
NM_000094.4(COL7A1):c.6954T>C (p.Leu2318=)
|
rs1054273238
|
0.00001
|
NM_000094.4(COL7A1):c.6977C>A (p.Pro2326Gln)
|
rs763000800
|
0.00001
|
NM_000094.4(COL7A1):c.7060G>C (p.Gly2354Arg)
|
rs748466015
|
0.00001
|
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu)
|
rs1233025207
|
0.00001
|
NM_000094.4(COL7A1):c.7164+10T>C
|
rs781780574
|
0.00001
|
NM_000094.4(COL7A1):c.7192G>A (p.Gly2398Ser)
|
rs755361003
|
0.00001
|
NM_000094.4(COL7A1):c.7204G>A (p.Val2402Ile)
|
rs761576147
|
0.00001
|
NM_000094.4(COL7A1):c.7334C>T (p.Pro2445Leu)
|
rs750113696
|
0.00001
|
NM_000094.4(COL7A1):c.7391G>A (p.Gly2464Glu)
|
rs1176292922
|
0.00001
|
NM_000094.4(COL7A1):c.7421G>A (p.Arg2474His)
|
rs988796477
|
0.00001
|
NM_000094.4(COL7A1):c.7484C>T (p.Thr2495Met)
|
rs771717980
|
0.00001
|
NM_000094.4(COL7A1):c.752A>G (p.Gln251Arg)
|
rs1227103410
|
0.00001
|
NM_000094.4(COL7A1):c.7581G>A (p.Gly2527=)
|
rs530291076
|
0.00001
|
NM_000094.4(COL7A1):c.7595G>A (p.Arg2532Gln)
|
rs755230641
|
0.00001
|
NM_000094.4(COL7A1):c.7763A>C (p.Gln2588Pro)
|
rs1233028552
|
0.00001
|
NM_000094.4(COL7A1):c.7981A>T (p.Met2661Leu)
|
rs1356408238
|
0.00001
|
NM_000094.4(COL7A1):c.8107C>T (p.Arg2703Trp)
|
rs759039839
|
0.00001
|
NM_000094.4(COL7A1):c.8108G>A (p.Arg2703Gln)
|
rs886058629
|
0.00001
|
NM_000094.4(COL7A1):c.814C>A (p.Leu272Met)
|
rs761770920
|
0.00001
|
NM_000094.4(COL7A1):c.8167C>T (p.Pro2723Ser)
|
rs774540354
|
0.00001
|
NM_000094.4(COL7A1):c.8216A>C (p.Gln2739Pro)
|
rs771892535
|
0.00001
|
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln)
|
rs377182638
|
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.8441G>A (p.Arg2814Gln)
|
rs767236747
|
0.00001
|
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=)
|
rs751768659
|
0.00001
|
NM_000094.4(COL7A1):c.8470G>T (p.Ala2824Ser)
|
rs1210237099
|
0.00001
|
NM_000094.4(COL7A1):c.8611G>A (p.Asp2871Asn)
|
rs746146532
|
0.00001
|
NM_000094.4(COL7A1):c.8635C>T (p.Pro2879Ser)
|
rs771286848
|
0.00001
|
NM_000094.4(COL7A1):c.8654G>A (p.Cys2885Tyr)
|
rs749519562
|
0.00001
|
NM_000094.4(COL7A1):c.8676G>T (p.Trp2892Cys)
|
rs755464659
|
0.00001
|
NM_000094.4(COL7A1):c.8817A>G (p.Thr2939=)
|
rs766321543
|
0.00001
|
NM_000094.4(COL7A1):c.8824G>T (p.Ala2942Ser)
|
rs1441002372
|
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.963G>T (p.Gly321=)
|
rs745686522
|
0.00001
|
NM_000094.4(COL7A1):c.98G>A (p.Arg33His)
|
rs767387822
|
0.00001
|
NC_000003.11:g.(?_48613682)_(48613729_?)dup
|
|
|
NM_000094.4(COL7A1):c.*105C>T
|
rs377441767
|
|
NM_000094.4(COL7A1):c.*162C>A
|
rs545650545
|
|
NM_000094.4(COL7A1):c.*270G>T
|
rs2043503119
|
|
NM_000094.4(COL7A1):c.*40A>T
|
rs886058627
|
|
NM_000094.4(COL7A1):c.*87G>A
|
rs1575413305
|
|
NM_000094.4(COL7A1):c.1010A>G (p.Asn337Ser)
|
rs374780340
|
|
NM_000094.4(COL7A1):c.1033G>C (p.Val345Leu)
|
|
|
NM_000094.4(COL7A1):c.1043G>T (p.Arg348Leu)
|
rs200570283
|
|
NM_000094.4(COL7A1):c.1048G>A (p.Val350Met)
|
|
|
NM_000094.4(COL7A1):c.106G>A (p.Ala36Thr)
|
|
|
NM_000094.4(COL7A1):c.1081C>T (p.Arg361Trp)
|
rs776805869
|
|
NM_000094.4(COL7A1):c.1111C>G (p.Gln371Glu)
|
rs2107791926
|
|
NM_000094.4(COL7A1):c.1114G>A (p.Glu372Lys)
|
|
|
NM_000094.4(COL7A1):c.1132G>A (p.Gly378Ser)
|
rs765113230
|
|
NM_000094.4(COL7A1):c.1132G>T (p.Gly378Cys)
|
|
|
NM_000094.4(COL7A1):c.1136C>T (p.Ser379Leu)
|
|
|
NM_000094.4(COL7A1):c.1147C>T (p.Arg383Cys)
|
|
|
NM_000094.4(COL7A1):c.1153T>G (p.Leu385Val)
|
|
|
NM_000094.4(COL7A1):c.1169A>G (p.Asp390Gly)
|
|
|
NM_000094.4(COL7A1):c.1181C>T (p.Thr394Ile)
|
|
|
NM_000094.4(COL7A1):c.1187G>A (p.Ser396Asn)
|
|
|
NM_000094.4(COL7A1):c.1198G>C (p.Gly400Arg)
|
|
|
NM_000094.4(COL7A1):c.1199G>T (p.Gly400Val)
|
|
|
NM_000094.4(COL7A1):c.1207G>T (p.Val403Leu)
|
|
|
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=)
|
rs200882719
|
|
NM_000094.4(COL7A1):c.1216G>A (p.Ala406Thr)
|
|
|
NM_000094.4(COL7A1):c.1219A>C (p.Thr407Pro)
|
|
|
NM_000094.4(COL7A1):c.1228A>G (p.Met410Val)
|
|
|
NM_000094.4(COL7A1):c.122T>A (p.Phe41Tyr)
|
|
|
NM_000094.4(COL7A1):c.1241-12T>G
|
|
|
NM_000094.4(COL7A1):c.1241-3C>A
|
|
|
NM_000094.4(COL7A1):c.1242C>A (p.Asp414Glu)
|
|
|
NM_000094.4(COL7A1):c.1244C>T (p.Ala415Val)
|
rs2107790367
|
|
NM_000094.4(COL7A1):c.1265G>A (p.Arg422His)
|
|
|
NM_000094.4(COL7A1):c.1286C>T (p.Thr429Ile)
|
|
|
NM_000094.4(COL7A1):c.1328G>A (p.Gly443Asp)
|
|
|
NM_000094.4(COL7A1):c.1334G>A (p.Arg445Gln)
|
|
|
NM_000094.4(COL7A1):c.1357+8C>A
|
rs368098361
|
|
NM_000094.4(COL7A1):c.1378G>A (p.Val460Met)
|
|
|
NM_000094.4(COL7A1):c.1391C>T (p.Ser464Phe)
|
|
|
NM_000094.4(COL7A1):c.1427C>T (p.Pro476Leu)
|
|
|
NM_000094.4(COL7A1):c.1453T>C (p.Tyr485His)
|
|
|
NM_000094.4(COL7A1):c.1460T>G (p.Leu487Arg)
|
|
|
NM_000094.4(COL7A1):c.1469G>A (p.Gly490Asp)
|
|
|
NM_000094.4(COL7A1):c.146T>C (p.Ile49Thr)
|
|
|
NM_000094.4(COL7A1):c.14T>C (p.Leu5Pro)
|
|
|
NM_000094.4(COL7A1):c.1508-3C>T
|
|
|
NM_000094.4(COL7A1):c.1514A>G (p.Glu505Gly)
|
|
|
NM_000094.4(COL7A1):c.151C>G (p.Arg51Gly)
|
|
|
NM_000094.4(COL7A1):c.1525A>G (p.Ser509Gly)
|
rs2045702958
|
|
NM_000094.4(COL7A1):c.1528C>T (p.Pro510Ser)
|
|
|
NM_000094.4(COL7A1):c.1532T>C (p.Val511Ala)
|
rs2045702024
|
|
NM_000094.4(COL7A1):c.1537G>C (p.Asp513His)
|
rs2045701662
|
|
NM_000094.4(COL7A1):c.1561G>C (p.Gly521Arg)
|
|
|
NM_000094.4(COL7A1):c.1567C>T (p.Arg523Trp)
|
|
|
NM_000094.4(COL7A1):c.1592T>G (p.Val531Gly)
|
|
|
NM_000094.4(COL7A1):c.1608G>C (p.Gln536His)
|
rs2107786870
|
|
NM_000094.4(COL7A1):c.1612C>T (p.Arg538Cys)
|
|
|
NM_000094.4(COL7A1):c.1615A>T (p.Ile539Phe)
|
rs1303497009
|
|
NM_000094.4(COL7A1):c.163C>T (p.Arg55Cys)
|
|
|
NM_000094.4(COL7A1):c.1649C>A (p.Thr550Asn)
|
rs2045638560
|
|
NM_000094.4(COL7A1):c.1673C>G (p.Thr558Arg)
|
|
|
NM_000094.4(COL7A1):c.1681G>A (p.Asp561Asn)
|
rs1320589494
|
|
NM_000094.4(COL7A1):c.1693G>A (p.Val565Ile)
|
|
|
NM_000094.4(COL7A1):c.1738G>A (p.Gly580Ser)
|
|
|
NM_000094.4(COL7A1):c.1741C>T (p.Pro581Ser)
|
|
|
NM_000094.4(COL7A1):c.1745G>A (p.Arg582His)
|
|
|
NM_000094.4(COL7A1):c.1751G>A (p.Gly584Asp)
|
|
|
NM_000094.4(COL7A1):c.175A>G (p.Ser59Gly)
|
|
|
NM_000094.4(COL7A1):c.1775G>A (p.Arg592His)
|
|
|
NM_000094.4(COL7A1):c.1778G>A (p.Arg593Gln)
|
|
|
NM_000094.4(COL7A1):c.1781-18_1781-12dup
|
rs2045623928
|
|
NM_000094.4(COL7A1):c.1781-20C>G
|
|
|
NM_000094.4(COL7A1):c.1790C>T (p.Thr597Ile)
|
|
|
NM_000094.4(COL7A1):c.17T>C (p.Leu6Pro)
|
|
|
NM_000094.4(COL7A1):c.1814G>A (p.Arg605Gln)
|
|
|
NM_000094.4(COL7A1):c.1834A>G (p.Thr612Ala)
|
|
|
NM_000094.4(COL7A1):c.1835C>T (p.Thr612Met)
|
|
|
NM_000094.4(COL7A1):c.1844G>C (p.Arg615Thr)
|
|
|
NM_000094.4(COL7A1):c.1844G>T (p.Arg615Met)
|
rs2045617671
|
|
NM_000094.4(COL7A1):c.1874G>C (p.Ser625Thr)
|
|
|
NM_000094.4(COL7A1):c.1877G>T (p.Gly626Val)
|
|
|
NM_000094.4(COL7A1):c.1889G>C (p.Ser630Thr)
|
|
|
NM_000094.4(COL7A1):c.1891T>G (p.Trp631Gly)
|
rs1257001197
|
|
NM_000094.4(COL7A1):c.1898_1903del (p.Thr633_Gly634del)
|
|
|
NM_000094.4(COL7A1):c.1900G>C (p.Gly634Arg)
|
|
|
NM_000094.4(COL7A1):c.1901G>T (p.Gly634Val)
|
|
|
NM_000094.4(COL7A1):c.1902C>T (p.Gly634=)
|
|
|
NM_000094.4(COL7A1):c.1905T>C (p.Ser635=)
|
rs2107780154
|
|
NM_000094.4(COL7A1):c.1906+18G>A
|
|
|
NM_000094.4(COL7A1):c.1906+3del
|
|
|
NM_000094.4(COL7A1):c.1930C>T (p.Pro644Ser)
|
rs1384386683
|
|
NM_000094.4(COL7A1):c.1934C>T (p.Pro645Leu)
|
|
|
NM_000094.4(COL7A1):c.1937A>T (p.Asp646Val)
|
|
|
NM_000094.4(COL7A1):c.1943C>T (p.Thr648Ile)
|
rs2107778887
|
|
NM_000094.4(COL7A1):c.1946C>T (p.Ala649Val)
|
|
|
NM_000094.4(COL7A1):c.1954A>T (p.Ile652Phe)
|
rs754253382
|
|
NM_000094.4(COL7A1):c.1962G>T (p.Gly654=)
|
|
|
NM_000094.4(COL7A1):c.1964T>G (p.Leu655Arg)
|
|
|
NM_000094.4(COL7A1):c.1969C>T (p.Pro657Ser)
|
rs886058641
|
|
NM_000094.4(COL7A1):c.197T>C (p.Leu66Pro)
|
|
|
NM_000094.4(COL7A1):c.2005C>G (p.Arg669Gly)
|
|
|
NM_000094.4(COL7A1):c.2006G>C (p.Arg669Pro)
|
|
|
NM_000094.4(COL7A1):c.2048C>A (p.Thr683Lys)
|
|
|
NM_000094.4(COL7A1):c.2048C>G (p.Thr683Arg)
|
|
|
NM_000094.4(COL7A1):c.2048C>T (p.Thr683Met)
|
|
|
NM_000094.4(COL7A1):c.2050+3C>T
|
|
|
NM_000094.4(COL7A1):c.2087A>G (p.Gln696Arg)
|
rs2107774731
|
|
NM_000094.4(COL7A1):c.208G>A (p.Gly70Arg)
|
|
|
NM_000094.4(COL7A1):c.2110A>G (p.Ile704Val)
|
|
|
NM_000094.4(COL7A1):c.2111T>A (p.Ile704Asn)
|
|
|
NM_000094.4(COL7A1):c.2111T>C (p.Ile704Thr)
|
|
|
NM_000094.4(COL7A1):c.2116T>G (p.Trp706Gly)
|
|
|
NM_000094.4(COL7A1):c.2147G>T (p.Arg716Met)
|
|
|
NM_000094.4(COL7A1):c.214G>C (p.Ala72Pro)
|
|
|
NM_000094.4(COL7A1):c.2157G>C (p.Trp719Cys)
|
rs2045549952
|
|
NM_000094.4(COL7A1):c.2162C>T (p.Ser721Leu)
|
|
|
NM_000094.4(COL7A1):c.2170+3G>A
|
|
|
NM_000094.4(COL7A1):c.2171-3C>T
|
|
|
NM_000094.4(COL7A1):c.2178G>T (p.Glu726Asp)
|
rs777401461
|
|
NM_000094.4(COL7A1):c.2190G>C (p.Leu730Phe)
|
|
|
NM_000094.4(COL7A1):c.2195C>T (p.Ser732Phe)
|
|
|
NM_000094.4(COL7A1):c.220G>A (p.Ala74Thr)
|
|
|
NM_000094.4(COL7A1):c.221C>T (p.Ala74Val)
|
|
|
NM_000094.4(COL7A1):c.2239A>G (p.Thr747Ala)
|
|
|
NM_000094.4(COL7A1):c.2252T>A (p.Val751Glu)
|
rs2107772444
|
|
NM_000094.4(COL7A1):c.226G>C (p.Gly76Arg)
|
|
|
NM_000094.4(COL7A1):c.2275G>A (p.Gly759Ser)
|
|
|
NM_000094.4(COL7A1):c.2278G>T (p.Val760Leu)
|
|
|
NM_000094.4(COL7A1):c.227G>A (p.Gly76Asp)
|
|
|
NM_000094.4(COL7A1):c.2282A>T (p.Asp761Val)
|
|
|
NM_000094.4(COL7A1):c.2290C>T (p.Pro764Ser)
|
|
|
NM_000094.4(COL7A1):c.2293G>T (p.Ala765Ser)
|
|
|
NM_000094.4(COL7A1):c.2300T>C (p.Val767Ala)
|
|
|
NM_000094.4(COL7A1):c.2302G>A (p.Val768Ile)
|
|
|
NM_000094.4(COL7A1):c.2315C>G (p.Ala772Gly)
|
|
|
NM_000094.4(COL7A1):c.2317C>A (p.Pro773Thr)
|
|
|
NM_000094.4(COL7A1):c.2326G>A (p.Val776Met)
|
|
|
NM_000094.4(COL7A1):c.2332C>T (p.Arg778Cys)
|
|
|
NM_000094.4(COL7A1):c.2333G>A (p.Arg778His)
|
|
|
NM_000094.4(COL7A1):c.2333G>C (p.Arg778Pro)
|
|
|
NM_000094.4(COL7A1):c.2359G>C (p.Ala787Pro)
|
rs2107769039
|
|
NM_000094.4(COL7A1):c.2360C>T (p.Ala787Val)
|
rs2107769020
|
|
NM_000094.4(COL7A1):c.2368G>A (p.Asp790Asn)
|
|
|
NM_000094.4(COL7A1):c.2380A>T (p.Ile794Phe)
|
rs2045492250
|
|
NM_000094.4(COL7A1):c.2382C>T (p.Ile794=)
|
rs1388911281
|
|
NM_000094.4(COL7A1):c.2432G>A (p.Arg811Gln)
|
|
|
NM_000094.4(COL7A1):c.2437G>A (p.Glu813Lys)
|
|
|
NM_000094.4(COL7A1):c.2440+3A>C
|
|
|
NM_000094.4(COL7A1):c.2440+3A>G
|
|
|
NM_000094.4(COL7A1):c.2441-6G>A
|
|
|
NM_000094.4(COL7A1):c.2442C>T (p.Gly814=)
|
rs546082340
|
|
NM_000094.4(COL7A1):c.2443G>A (p.Gly815Ser)
|
|
|
NM_000094.4(COL7A1):c.2445C>G (p.Gly815=)
|
rs2045479336
|
|
NM_000094.4(COL7A1):c.2451G>A (p.Met817Ile)
|
|
|
NM_000094.4(COL7A1):c.2453G>C (p.Arg818Thr)
|
|
|
NM_000094.4(COL7A1):c.2461A>G (p.Ile821Val)
|
|
|
NM_000094.4(COL7A1):c.2489A>C (p.Glu830Ala)
|
|
|
NM_000094.4(COL7A1):c.2497G>A (p.Gly833Ser)
|
|
|
NM_000094.4(COL7A1):c.2497G>C (p.Gly833Arg)
|
|
|
NM_000094.4(COL7A1):c.2510G>A (p.Gly837Glu)
|
|
|
NM_000094.4(COL7A1):c.2528G>A (p.Arg843Gln)
|
|
|
NM_000094.4(COL7A1):c.2531T>A (p.Val844Glu)
|
|
|
NM_000094.4(COL7A1):c.2542G>T (p.Val848Phe)
|
|
|
NM_000094.4(COL7A1):c.2543T>G (p.Val848Gly)
|
|
|
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn)
|
rs538387822
|
|
NM_000094.4(COL7A1):c.2548G>T (p.Asp850Tyr)
|
|
|
NM_000094.4(COL7A1):c.2549A>G (p.Asp850Gly)
|
|
|
NM_000094.4(COL7A1):c.2552G>T (p.Arg851Leu)
|
|
|
NM_000094.4(COL7A1):c.2555A>T (p.Glu852Val)
|
|
|
NM_000094.4(COL7A1):c.2558G>A (p.Gly853Asp)
|
|
|
NM_000094.4(COL7A1):c.2569T>G (p.Ser857Ala)
|
|
|
NM_000094.4(COL7A1):c.256G>A (p.Asp86Asn)
|
|
|
NM_000094.4(COL7A1):c.2570C>G (p.Ser857Cys)
|
rs1404367222
|
|
NM_000094.4(COL7A1):c.2572A>G (p.Ile858Val)
|
|
|
NM_000094.4(COL7A1):c.2574TGT[1] (p.Val860del)
|
|
|
NM_000094.4(COL7A1):c.2585C>T (p.Thr862Met)
|
|
|
NM_000094.4(COL7A1):c.2586G>C (p.Thr862=)
|
|
|
NM_000094.4(COL7A1):c.25G>A (p.Ala9Thr)
|
|
|
NM_000094.4(COL7A1):c.2611G>C (p.Gly871Arg)
|
|
|
NM_000094.4(COL7A1):c.2621A>T (p.His874Leu)
|
|
|
NM_000094.4(COL7A1):c.2622C>A (p.His874Gln)
|
|
|
NM_000094.4(COL7A1):c.2623G>C (p.Val875Leu)
|
|
|
NM_000094.4(COL7A1):c.2625_2626delinsCT (p.Val876Leu)
|
rs2045441032
|
|
NM_000094.4(COL7A1):c.2627T>G (p.Val876Gly)
|
|
|
NM_000094.4(COL7A1):c.2640G>T (p.Glu880Asp)
|
|
|
NM_000094.4(COL7A1):c.2644T>C (p.Ser882Pro)
|
rs2045438463
|
|
NM_000094.4(COL7A1):c.267-4A>G
|
|
|
NM_000094.4(COL7A1):c.2670G>A (p.Val890=)
|
|
|
NM_000094.4(COL7A1):c.2678C>T (p.Ala893Val)
|
rs2854389
|
|
NM_000094.4(COL7A1):c.2681A>T (p.Gln894Leu)
|
|
|
NM_000094.4(COL7A1):c.2693T>C (p.Leu898Pro)
|
|
|
NM_000094.4(COL7A1):c.2697C>G (p.His899Gln)
|
|
|
NM_000094.4(COL7A1):c.2698T>G (p.Trp900Gly)
|
rs2107763593
|
|
NM_000094.4(COL7A1):c.26C>T (p.Ala9Val)
|
|
|
NM_000094.4(COL7A1):c.2710+3G>A
|
|
|
NM_000094.4(COL7A1):c.2714G>T (p.Gly905Val)
|
|
|
NM_000094.4(COL7A1):c.2729G>C (p.Arg910Pro)
|
rs373718618
|
|
NM_000094.4(COL7A1):c.2729G>T (p.Arg910Leu)
|
rs373718618
|
|
NM_000094.4(COL7A1):c.2731G>A (p.Val911Ile)
|
rs1176948687
|
|
NM_000094.4(COL7A1):c.2750G>A (p.Ser917Asn)
|
rs1205999989
|
|
NM_000094.4(COL7A1):c.2767G>A (p.Gly923Arg)
|
|
|
NM_000094.4(COL7A1):c.2769G>A (p.Gly923=)
|
rs748086542
|
|
NM_000094.4(COL7A1):c.276C>A (p.Phe92Leu)
|
rs746563255
|
|
NM_000094.4(COL7A1):c.2776C>T (p.Pro926Ser)
|
|
|
NM_000094.4(COL7A1):c.2780C>T (p.Ala927Val)
|
|
|
NM_000094.4(COL7A1):c.2791C>A (p.Arg931Ser)
|
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.279C>T (p.Gly93=)
|
rs745864625
|
|
NM_000094.4(COL7A1):c.2813G>A (p.Gly938Glu)
|
rs2045384688
|
|
NM_000094.4(COL7A1):c.2816_2817inv (p.Pro939Leu)
|
|
|
NM_000094.4(COL7A1):c.282_283delinsCT (p.Asp95Tyr)
|
rs2107802249
|
|
NM_000094.4(COL7A1):c.283G>C (p.Asp95His)
|
|
|
NM_000094.4(COL7A1):c.2855C>A (p.Thr952Asn)
|
|
|
NM_000094.4(COL7A1):c.2903C>T (p.Ser968Leu)
|
|
|
NM_000094.4(COL7A1):c.2908G>A (p.Asp970Asn)
|
|
|
NM_000094.4(COL7A1):c.2914G>A (p.Val972Met)
|
|
|
NM_000094.4(COL7A1):c.2983C>T (p.Pro995Ser)
|
|
|
NM_000094.4(COL7A1):c.298G>A (p.Gly100Arg)
|
|
|
NM_000094.4(COL7A1):c.3001G>A (p.Gly1001Arg)
|
|
|
NM_000094.4(COL7A1):c.3025A>G (p.Ile1009Val)
|
|
|
NM_000094.4(COL7A1):c.3035C>T (p.Ser1012Phe)
|
|
|
NM_000094.4(COL7A1):c.3039G>C (p.Gln1013His)
|
rs570498790
|
|
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His)
|
rs570498790
|
|
NM_000094.4(COL7A1):c.3040C>T (p.Arg1014Trp)
|
|
|
NM_000094.4(COL7A1):c.3053T>A (p.Leu1018Gln)
|
|
|
NM_000094.4(COL7A1):c.3062G>C (p.Gly1021Ala)
|
rs533045231
|
|
NM_000094.4(COL7A1):c.3078C>G (p.Phe1026Leu)
|
|
|
NM_000094.4(COL7A1):c.3091G>A (p.Val1031Ile)
|
rs1206576149
|
|
NM_000094.4(COL7A1):c.3103G>A (p.Val1035Met)
|
|
|
NM_000094.4(COL7A1):c.3115G>C (p.Glu1039Gln)
|
rs776932495
|
|
NM_000094.4(COL7A1):c.3138A>G (p.Pro1046=)
|
|
|
NM_000094.4(COL7A1):c.3157G>A (p.Ala1053Thr)
|
|
|
NM_000094.4(COL7A1):c.316G>T (p.Ala106Ser)
|
|
|
NM_000094.4(COL7A1):c.3176C>T (p.Pro1059Leu)
|
|
|
NM_000094.4(COL7A1):c.317C>T (p.Ala106Val)
|
rs767643638
|
|
NM_000094.4(COL7A1):c.3199C>T (p.His1067Tyr)
|
|
|
NM_000094.4(COL7A1):c.3203G>T (p.Arg1068Leu)
|
|
|
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.3214A>G (p.Thr1072Ala)
|
rs2107753501
|
|
NM_000094.4(COL7A1):c.3221G>A (p.Arg1074Lys)
|
|
|
NM_000094.4(COL7A1):c.3224T>C (p.Val1075Ala)
|
rs2045316478
|
|
NM_000094.4(COL7A1):c.322C>T (p.Arg108Cys)
|
|
|
NM_000094.4(COL7A1):c.3233G>A (p.Arg1078His)
|
rs748471791
|
|
NM_000094.4(COL7A1):c.3233G>C (p.Arg1078Pro)
|
|
|
NM_000094.4(COL7A1):c.3276+6G>C
|
|
|
NM_000094.4(COL7A1):c.3277-3C>T
|
|
|
NM_000094.4(COL7A1):c.3289T>A (p.Ser1097Thr)
|
|
|
NM_000094.4(COL7A1):c.3317T>G (p.Phe1106Cys)
|
|
|
NM_000094.4(COL7A1):c.3353T>C (p.Leu1118Ser)
|
|
|
NM_000094.4(COL7A1):c.3364C>T (p.Arg1122Cys)
|
|
|
NM_000094.4(COL7A1):c.3407C>T (p.Thr1136Ile)
|
|
|
NM_000094.4(COL7A1):c.341G>T (p.Gly114Val)
|
|
|
NM_000094.4(COL7A1):c.3424C>T (p.His1142Tyr)
|
|
|
NM_000094.4(COL7A1):c.3433A>G (p.Met1145Val)
|
|
|
NM_000094.4(COL7A1):c.3442C>A (p.Pro1148Thr)
|
|
|
NM_000094.4(COL7A1):c.3457C>A (p.Arg1153Ser)
|
|
|
NM_000094.4(COL7A1):c.3458G>A (p.Arg1153His)
|
|
|
NM_000094.4(COL7A1):c.345C>T (p.Gly115=)
|
rs2107801642
|
|
NM_000094.4(COL7A1):c.3460C>T (p.Arg1154Cys)
|
|
|
NM_000094.4(COL7A1):c.3464A>G (p.Gln1155Arg)
|
rs2107748893
|
|
NM_000094.4(COL7A1):c.3470T>C (p.Val1157Ala)
|
|
|
NM_000094.4(COL7A1):c.3473C>T (p.Pro1158Leu)
|
|
|
NM_000094.4(COL7A1):c.3479T>C (p.Val1160Ala)
|
rs2045262257
|
|
NM_000094.4(COL7A1):c.3479_3496del (p.Val1160_Val1165del)
|
|
|
NM_000094.4(COL7A1):c.3487C>G (p.Leu1163Val)
|
|
|
NM_000094.4(COL7A1):c.348C>A (p.Asn116Lys)
|
|
|
NM_000094.4(COL7A1):c.3503C>G (p.Pro1168Arg)
|
|
|
NM_000094.4(COL7A1):c.3529A>G (p.Ile1177Val)
|
|
|
NM_000094.4(COL7A1):c.3539C>G (p.Ala1180Gly)
|
|
|
NM_000094.4(COL7A1):c.353G>A (p.Arg118His)
|
rs966257558
|
|
NM_000094.4(COL7A1):c.353G>C (p.Arg118Pro)
|
|
|
NM_000094.4(COL7A1):c.3545_3550del (p.Ala1182_Ser1183del)
|
rs2107748198
|
|
NM_000094.4(COL7A1):c.3547_3549dup (p.Ser1183_Gly1184insSer)
|
|
|
NM_000094.4(COL7A1):c.3549T>C (p.Ser1183=)
|
|
|
NM_000094.4(COL7A1):c.3550+11G>A
|
rs2045256350
|
|
NM_000094.4(COL7A1):c.3550+4A>C
|
|
|
NM_000094.4(COL7A1):c.3551-5C>T
|
rs879213218
|
|
NM_000094.4(COL7A1):c.3586G>A (p.Asp1196Asn)
|
rs1417574149
|
|
NM_000094.4(COL7A1):c.3587A>G (p.Asp1196Gly)
|
|
|
NM_000094.4(COL7A1):c.3610G>A (p.Ala1204Thr)
|
rs2107747092
|
|
NM_000094.4(COL7A1):c.3613C>T (p.Pro1205Ser)
|
|
|
NM_000094.4(COL7A1):c.3628G>C (p.Val1210Leu)
|
|
|
NM_000094.4(COL7A1):c.3633G>C (p.Gln1211His)
|
|
|
NM_000094.4(COL7A1):c.3637T>A (p.Phe1213Ile)
|
|
|
NM_000094.4(COL7A1):c.364G>A (p.Ala122Thr)
|
rs1209617628
|
|
NM_000094.4(COL7A1):c.364G>T (p.Ala122Ser)
|
|
|
NM_000094.4(COL7A1):c.3653A>T (p.Asp1218Val)
|
|
|
NM_000094.4(COL7A1):c.365C>T (p.Ala122Val)
|
|
|
NM_000094.4(COL7A1):c.3674C>T (p.Ala1225Val)
|
|
|
NM_000094.4(COL7A1):c.367A>C (p.Ile123Leu)
|
|
|
NM_000094.4(COL7A1):c.3715A>C (p.Thr1239Pro)
|
|
|
NM_000094.4(COL7A1):c.3715A>G (p.Thr1239Ala)
|
|
|
NM_000094.4(COL7A1):c.3731C>T (p.Pro1244Leu)
|
rs2045223332
|
|
NM_000094.4(COL7A1):c.3746T>C (p.Val1249Ala)
|
|
|
NM_000094.4(COL7A1):c.3754C>A (p.Pro1252Thr)
|
|
|
NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr)
|
|
|
NM_000094.4(COL7A1):c.3786+3G>A
|
rs2107744113
|
|
NM_000094.4(COL7A1):c.3786+6T>C
|
|
|
NM_000094.4(COL7A1):c.3803T>C (p.Val1268Ala)
|
|
|
NM_000094.4(COL7A1):c.3803T>G (p.Val1268Gly)
|
|
|
NM_000094.4(COL7A1):c.3818A>C (p.Asp1273Ala)
|
|
|
NM_000094.4(COL7A1):c.3824G>A (p.Gly1275Asp)
|
|
|
NM_000094.4(COL7A1):c.3826C>T (p.Leu1276Phe)
|
rs2045195228
|
|
NM_000094.4(COL7A1):c.3831G>A (p.Pro1277=)
|
|
|
NM_000094.4(COL7A1):c.3837G>T (p.Arg1279Ser)
|
|
|
NM_000094.4(COL7A1):c.3844G>A (p.Ala1282Thr)
|
|
|
NM_000094.4(COL7A1):c.3853C>A (p.Pro1285Thr)
|
rs1168566312
|
|
NM_000094.4(COL7A1):c.3861_3862delinsTA (p.Pro1288Thr)
|
rs2107742052
|
|
NM_000094.4(COL7A1):c.3862C>A (p.Pro1288Thr)
|
|
|
NM_000094.4(COL7A1):c.3889G>C (p.Glu1297Gln)
|
|
|
NM_000094.4(COL7A1):c.3894+6T>C
|
|
|
NM_000094.4(COL7A1):c.38G>C (p.Gly13Ala)
|
|
|
NM_000094.4(COL7A1):c.3916C>T (p.Arg1306Cys)
|
rs775397461
|
|
NM_000094.4(COL7A1):c.3920C>T (p.Pro1307Leu)
|
rs1455856448
|
|
NM_000094.4(COL7A1):c.3929C>T (p.Pro1310Leu)
|
rs2045143069
|
|
NM_000094.4(COL7A1):c.3934C>T (p.Arg1312Cys)
|
|
|
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=)
|
rs141825319
|
|
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs)
|
rs747912732
|
|
NM_000094.4(COL7A1):c.3946C>T (p.Pro1316Ser)
|
|
|
NM_000094.4(COL7A1):c.3968G>C (p.Gly1323Ala)
|
|
|
NM_000094.4(COL7A1):c.3975+6C>T
|
|
|
NM_000094.4(COL7A1):c.3980C>T (p.Ser1327Phe)
|
|
|
NM_000094.4(COL7A1):c.398C>A (p.Pro133His)
|
|
|
NM_000094.4(COL7A1):c.4001G>A (p.Arg1334His)
|
rs759297874
|
|
NM_000094.4(COL7A1):c.4009C>G (p.Pro1337Ala)
|
|
|
NM_000094.4(COL7A1):c.4015G>C (p.Glu1339Gln)
|
|
|
NM_000094.4(COL7A1):c.4021G>A (p.Gly1341Arg)
|
|
|
NM_000094.4(COL7A1):c.4031G>A (p.Gly1344Asp)
|
|
|
NM_000094.4(COL7A1):c.403C>A (p.Leu135Met)
|
rs145560571
|
|
NM_000094.4(COL7A1):c.4047G>A (p.Pro1349=)
|
|
|
NM_000094.4(COL7A1):c.4057G>A (p.Gly1353Arg)
|
|
|
NM_000094.4(COL7A1):c.4057G>C (p.Gly1353Arg)
|
|
|
NM_000094.4(COL7A1):c.4058G>T (p.Gly1353Val)
|
|
|
NM_000094.4(COL7A1):c.4072G>A (p.Gly1358Ser)
|
rs750288565
|
|
NM_000094.4(COL7A1):c.4088T>C (p.Leu1363Pro)
|
|
|
NM_000094.4(COL7A1):c.4091C>T (p.Pro1364Leu)
|
rs2107734875
|
|
NM_000094.4(COL7A1):c.4093G>T (p.Gly1365Trp)
|
|
|
NM_000094.4(COL7A1):c.4100A>C (p.Lys1367Thr)
|
rs2045073283
|
|
NM_000094.4(COL7A1):c.410G>A (p.Arg137Gln)
|
|
|
NM_000094.4(COL7A1):c.4112G>C (p.Gly1371Ala)
|
|
|
NM_000094.4(COL7A1):c.4119G>A (p.Ser1373=)
|
|
|
NM_000094.4(COL7A1):c.4153C>A (p.Pro1385Thr)
|
|
|
NM_000094.4(COL7A1):c.4166G>T (p.Gly1389Val)
|
|
|
NM_000094.4(COL7A1):c.4177C>T (p.Leu1393Phe)
|
|
|
NM_000094.4(COL7A1):c.4183G>A (p.Gly1395Arg)
|
rs2107732981
|
|
NM_000094.4(COL7A1):c.4186A>G (p.Thr1396Ala)
|
|
|
NM_000094.4(COL7A1):c.4193T>C (p.Met1398Thr)
|
|
|
NM_000094.4(COL7A1):c.4205A>G (p.Lys1402Arg)
|
|
|
NM_000094.4(COL7A1):c.4217G>T (p.Gly1406Val)
|
rs2045010838
|
|
NM_000094.4(COL7A1):c.4224+3_4224+6del
|
|
|
NM_000094.4(COL7A1):c.4224G>A (p.Arg1408=)
|
|
|
NM_000094.4(COL7A1):c.4237C>A (p.Pro1413Thr)
|
|
|
NM_000094.4(COL7A1):c.4237_4241delinsACAGA (p.Pro1413_Gly1414delinsThrAsp)
|
|
|
NM_000094.4(COL7A1):c.4238C>T (p.Pro1413Leu)
|
rs754627931
|
|
NM_000094.4(COL7A1):c.4252A>G (p.Ile1418Val)
|
|
|
NM_000094.4(COL7A1):c.4258C>T (p.Pro1420Ser)
|
|
|
NM_000094.4(COL7A1):c.426+9_426+18del
|
|
|
NM_000094.4(COL7A1):c.4271G>A (p.Gly1424Glu)
|
|
|
NM_000094.4(COL7A1):c.4279-15C>G
|
|
|
NM_000094.4(COL7A1):c.4291A>C (p.Ser1431Arg)
|
|
|
NM_000094.4(COL7A1):c.4293C>G (p.Ser1431Arg)
|
|
|
NM_000094.4(COL7A1):c.4297G>C (p.Gly1433Arg)
|
rs2044972455
|
|
NM_000094.4(COL7A1):c.4312G>T (p.Val1438Phe)
|
rs148625586
|
|
NM_000094.4(COL7A1):c.4328A>T (p.Lys1443Met)
|
rs2107728341
|
|
NM_000094.4(COL7A1):c.4330A>G (p.Lys1444Glu)
|
|
|
NM_000094.4(COL7A1):c.4341+6A>G
|
|
|
NM_000094.4(COL7A1):c.4342-13G>A
|
|
|
NM_000094.4(COL7A1):c.4351G>A (p.Glu1451Lys)
|
|
|
NM_000094.4(COL7A1):c.4353G>T (p.Glu1451Asp)
|
rs2107727375
|
|
NM_000094.4(COL7A1):c.4364C>T (p.Pro1455Leu)
|
|
|
NM_000094.4(COL7A1):c.4388C>T (p.Ser1463Phe)
|
rs886058640
|
|
NM_000094.4(COL7A1):c.4392G>A (p.Pro1464=)
|
|
|
NM_000094.4(COL7A1):c.4402-16A>G
|
|
|
NM_000094.4(COL7A1):c.4408C>G (p.Arg1470Gly)
|
rs769297158
|
|
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.4426A>G (p.Ile1476Val)
|
|
|
NM_000094.4(COL7A1):c.4427T>C (p.Ile1476Thr)
|
rs2044930168
|
|
NM_000094.4(COL7A1):c.4437+5G>A
|
rs886058639
|
|
NM_000094.4(COL7A1):c.4448G>C (p.Gly1483Ala)
|
|
|
NM_000094.4(COL7A1):c.4450T>C (p.Phe1484Leu)
|
|
|
NM_000094.4(COL7A1):c.4451T>C (p.Phe1484Ser)
|
|
|
NM_000094.4(COL7A1):c.4480A>G (p.Lys1494Glu)
|
rs2107723957
|
|
NM_000094.4(COL7A1):c.4482+5G>A
|
|
|
NM_000094.4(COL7A1):c.4490G>T (p.Arg1497Leu)
|
|
|
NM_000094.4(COL7A1):c.4495C>A (p.Pro1499Thr)
|
|
|
NM_000094.4(COL7A1):c.4502G>C (p.Gly1501Ala)
|
|
|
NM_000094.4(COL7A1):c.4516C>T (p.Arg1506Trp)
|
|
|
NM_000094.4(COL7A1):c.4518+6C>T
|
|
|
NM_000094.4(COL7A1):c.4519-3C>T
|
rs2044853178
|
|
NM_000094.4(COL7A1):c.4546G>A (p.Gly1516Arg)
|
rs758941226
|
|
NM_000094.4(COL7A1):c.4552A>G (p.Lys1518Glu)
|
rs2107720058
|
|
NM_000094.4(COL7A1):c.4576C>T (p.Pro1526Ser)
|
|
|
NM_000094.4(COL7A1):c.4583G>A (p.Gly1528Asp)
|
rs2107718980
|
|
NM_000094.4(COL7A1):c.4586G>A (p.Arg1529His)
|
|
|
NM_000094.4(COL7A1):c.4609G>A (p.Gly1537Ser)
|
|
|
NM_000094.4(COL7A1):c.4635+5G>A
|
rs1170510858
|
|
NM_000094.4(COL7A1):c.4637G>A (p.Gly1546Glu)
|
|
|
NM_000094.4(COL7A1):c.4642G>A (p.Ala1548Thr)
|
|
|
NM_000094.4(COL7A1):c.4661G>A (p.Gly1554Glu)
|
rs2107715075
|
|
NM_000094.4(COL7A1):c.466G>A (p.Val156Met)
|
|
|
NM_000094.4(COL7A1):c.4675G>T (p.Val1559Leu)
|
|
|
NM_000094.4(COL7A1):c.4678G>A (p.Gly1560Arg)
|
rs2044774392
|
|
NM_000094.4(COL7A1):c.4684G>C (p.Ala1562Pro)
|
|
|
NM_000094.4(COL7A1):c.4694G>A (p.Arg1565Lys)
|
|
|
NM_000094.4(COL7A1):c.4711C>G (p.Gln1571Glu)
|
|
|
NM_000094.4(COL7A1):c.4718A>G (p.Glu1573Gly)
|
|
|
NM_000094.4(COL7A1):c.4721G>A (p.Arg1574Gln)
|
|
|
NM_000094.4(COL7A1):c.4722+4A>T
|
|
|
NM_000094.4(COL7A1):c.4723-7T>G
|
|
|
NM_000094.4(COL7A1):c.4732G>A (p.Gly1578Ser)
|
|
|
NM_000094.4(COL7A1):c.4733G>A (p.Gly1578Asp)
|
|
|
NM_000094.4(COL7A1):c.4737G>T (p.Leu1579Phe)
|
|
|
NM_000094.4(COL7A1):c.4744C>T (p.Pro1582Ser)
|
|
|
NM_000094.4(COL7A1):c.4753C>T (p.Pro1585Ser)
|
|
|
NM_000094.4(COL7A1):c.4756G>A (p.Gly1586Ser)
|
|
|
NM_000094.4(COL7A1):c.4760C>T (p.Pro1587Leu)
|
|
|
NM_000094.4(COL7A1):c.4775G>A (p.Gly1592Glu)
|
rs2107713178
|
|
NM_000094.4(COL7A1):c.4781G>A (p.Arg1594Gln)
|
|
|
NM_000094.4(COL7A1):c.4782+10T>G
|
|
|
NM_000094.4(COL7A1):c.4786C>T (p.Pro1596Ser)
|
|
|
NM_000094.4(COL7A1):c.4810G>C (p.Gly1604Arg)
|
rs1560234201
|
|
NM_000094.4(COL7A1):c.4814C>A (p.Pro1605His)
|
rs746038868
|
|
NM_000094.4(COL7A1):c.4818+5G>T
|
|
|
NM_000094.4(COL7A1):c.4819-3C>T
|
|
|
NM_000094.4(COL7A1):c.4853C>T (p.Pro1618Leu)
|
|
|
NM_000094.4(COL7A1):c.485G>C (p.Arg162Thr)
|
|
|
NM_000094.4(COL7A1):c.486G>C (p.Arg162Ser)
|
|
|
NM_000094.4(COL7A1):c.4870C>G (p.Pro1624Ala)
|
|
|
NM_000094.4(COL7A1):c.4883G>C (p.Gly1628Ala)
|
|
|
NM_000094.4(COL7A1):c.4891G>A (p.Gly1631Arg)
|
|
|
NM_000094.4(COL7A1):c.4899T>C (p.Asp1633=)
|
|
|
NM_000094.4(COL7A1):c.4901G>A (p.Gly1634Asp)
|
rs1327829674
|
|
NM_000094.4(COL7A1):c.4917A>C (p.Lys1639Asn)
|
|
|
NM_000094.4(COL7A1):c.4927G>A (p.Gly1643Ser)
|
rs886058638
|
|
NM_000094.4(COL7A1):c.4936G>C (p.Gly1646Arg)
|
|
|
NM_000094.4(COL7A1):c.4939G>A (p.Asp1647Asn)
|
rs2107709091
|
|
NM_000094.4(COL7A1):c.4941C>G (p.Asp1647Glu)
|
|
|
NM_000094.4(COL7A1):c.4943C>T (p.Pro1648Leu)
|
|
|
NM_000094.4(COL7A1):c.494G>A (p.Gly165Glu)
|
|
|
NM_000094.4(COL7A1):c.4967A>C (p.Glu1656Ala)
|
|
|
NM_000094.4(COL7A1):c.4969C>T (p.Arg1657Cys)
|
|
|
NM_000094.4(COL7A1):c.4970G>A (p.Arg1657His)
|
|
|
NM_000094.4(COL7A1):c.4979G>A (p.Arg1660Gln)
|
|
|
NM_000094.4(COL7A1):c.497A>T (p.Gln166Leu)
|
rs2107800203
|
|
NM_000094.4(COL7A1):c.4980+4A>C
|
|
|
NM_000094.4(COL7A1):c.4999G>T (p.Gly1667Trp)
|
rs2107707008
|
|
NM_000094.4(COL7A1):c.49G>C (p.Glu17Gln)
|
|
|
NM_000094.4(COL7A1):c.5000G>A (p.Gly1667Glu)
|
rs864321654
|
|
NM_000094.4(COL7A1):c.5022_5030dup (p.Asp1677_Pro1678insGlnGlyAsp)
|
|
|
NM_000094.4(COL7A1):c.5026G>A (p.Gly1676Arg)
|
rs2107706791
|
|
NM_000094.4(COL7A1):c.502G>A (p.Val168Ile)
|
rs562413402
|
|
NM_000094.4(COL7A1):c.502G>T (p.Val168Phe)
|
|
|
NM_000094.4(COL7A1):c.5037A>T (p.Gly1679=)
|
|
|
NM_000094.4(COL7A1):c.5041G>T (p.Asp1681Tyr)
|
rs2044679313
|
|
NM_000094.4(COL7A1):c.5042A>G (p.Asp1681Gly)
|
|
|
NM_000094.4(COL7A1):c.5045G>A (p.Gly1682Glu)
|
|
|
NM_000094.4(COL7A1):c.5052+6T>A
|
|
|
NM_000094.4(COL7A1):c.5057G>C (p.Ser1686Thr)
|
|
|
NM_000094.4(COL7A1):c.5058C>T (p.Ser1686=)
|
rs144700737
|
|
NM_000094.4(COL7A1):c.505A>G (p.Lys169Glu)
|
|
|
NM_000094.4(COL7A1):c.5077A>G (p.Lys1693Glu)
|
rs2107704760
|
|
NM_000094.4(COL7A1):c.5098-3C>T
|
|
|
NM_000094.4(COL7A1):c.5101C>T (p.Pro1701Ser)
|
|
|
NM_000094.4(COL7A1):c.5104C>T (p.Pro1702Ser)
|
|
|
NM_000094.4(COL7A1):c.5110C>A (p.Pro1704Thr)
|
|
|
NM_000094.4(COL7A1):c.5114C>T (p.Pro1705Leu)
|
|
|
NM_000094.4(COL7A1):c.5116G>A (p.Gly1706Arg)
|
|
|
NM_000094.4(COL7A1):c.5119C>T (p.Arg1707Trp)
|
|
|
NM_000094.4(COL7A1):c.5125-6C>A
|
|
|
NM_000094.4(COL7A1):c.5125-7_5125-6insAGTGAGAAGTCATT
|
rs2107701339
|
|
NM_000094.4(COL7A1):c.5126T>G (p.Val1709Gly)
|
rs2107701216
|
|
NM_000094.4(COL7A1):c.5137C>A (p.Pro1713Thr)
|
|
|
NM_000094.4(COL7A1):c.5149G>A (p.Glu1717Lys)
|
|
|
NM_000094.4(COL7A1):c.5154+8G>A
|
|
|
NM_000094.4(COL7A1):c.5155-17_5155-16delinsTT
|
|
|
NM_000094.4(COL7A1):c.515C>T (p.Ala172Val)
|
|
|
NM_000094.4(COL7A1):c.5164_5187del (p.Gly1722_Pro1729del)
|
|
|
NM_000094.4(COL7A1):c.5168A>G (p.Asp1723Gly)
|
|
|
NM_000094.4(COL7A1):c.5170C>T (p.Arg1724Cys)
|
|
|
NM_000094.4(COL7A1):c.5189G>A (p.Arg1730Gln)
|
|
|
NM_000094.4(COL7A1):c.5199G>T (p.Lys1733Asn)
|
|
|
NM_000094.4(COL7A1):c.520+4A>G
|
rs997937705
|
|
NM_000094.4(COL7A1):c.520+4A>T
|
|
|
NM_000094.4(COL7A1):c.5202T>C (p.Gly1734=)
|
rs2044586502
|
|
NM_000094.4(COL7A1):c.5206C>A (p.Pro1736Thr)
|
|
|
NM_000094.4(COL7A1):c.5212C>A (p.Leu1738Ile)
|
|
|
NM_000094.4(COL7A1):c.5221G>A (p.Ala1741Thr)
|
|
|
NM_000094.4(COL7A1):c.5222C>T (p.Ala1741Val)
|
|
|
NM_000094.4(COL7A1):c.5225C>G (p.Pro1742Arg)
|
|
|
NM_000094.4(COL7A1):c.5257C>A (p.Pro1753Thr)
|
|
|
NM_000094.4(COL7A1):c.5258C>A (p.Pro1753His)
|
|
|
NM_000094.4(COL7A1):c.5271+6T>C
|
rs2044571216
|
|
NM_000094.4(COL7A1):c.5272-6C>A
|
|
|
NM_000094.4(COL7A1):c.5273G>A (p.Gly1758Glu)
|
rs1553857986
|
|
NM_000094.4(COL7A1):c.5323C>T (p.Pro1775Ser)
|
|
|
NM_000094.4(COL7A1):c.5324C>T (p.Pro1775Leu)
|
|
|
NM_000094.4(COL7A1):c.5333A>T (p.Asp1778Val)
|
|
|
NM_000094.4(COL7A1):c.5352T>C (p.Asp1784=)
|
rs2044549084
|
|
NM_000094.4(COL7A1):c.5366C>A (p.Ala1789Asp)
|
|
|
NM_000094.4(COL7A1):c.5374C>T (p.Pro1792Ser)
|
|
|
NM_000094.4(COL7A1):c.5377T>C (p.Ser1793Pro)
|
|
|
NM_000094.4(COL7A1):c.5381G>A (p.Gly1794Glu)
|
rs2044547049
|
|
NM_000094.4(COL7A1):c.539C>A (p.Pro180His)
|
rs2107799274
|
|
NM_000094.4(COL7A1):c.5425-6_5425-5del
|
rs762085901
|
|
NM_000094.4(COL7A1):c.542A>G (p.Glu181Gly)
|
|
|
NM_000094.4(COL7A1):c.5437C>A (p.Leu1813Ile)
|
rs2107692288
|
|
NM_000094.4(COL7A1):c.544G>A (p.Glu182Lys)
|
|
|
NM_000094.4(COL7A1):c.5471G>T (p.Gly1824Val)
|
|
|
NM_000094.4(COL7A1):c.5476C>T (p.Pro1826Ser)
|
rs2107692007
|
|
NM_000094.4(COL7A1):c.5511A>C (p.Lys1837Asn)
|
|
|
NM_000094.4(COL7A1):c.5515G>C (p.Gly1839Arg)
|
rs2107691155
|
|
NM_000094.4(COL7A1):c.5524G>A (p.Gly1842Arg)
|
|
|
NM_000094.4(COL7A1):c.5532+3G>A
|
|
|
NM_000094.4(COL7A1):c.5532+4A>G
|
rs2107690960
|
|
NM_000094.4(COL7A1):c.5532+67A>G
|
rs1553856947
|
|
NM_000094.4(COL7A1):c.5549C>T (p.Pro1850Leu)
|
|
|
NM_000094.4(COL7A1):c.5551G>C (p.Gly1851Arg)
|
|
|
NM_000094.4(COL7A1):c.5578G>A (p.Gly1860Arg)
|
|
|
NM_000094.4(COL7A1):c.5591C>A (p.Ala1864Asp)
|
|
|
NM_000094.4(COL7A1):c.5591C>T (p.Ala1864Val)
|
|
|
NM_000094.4(COL7A1):c.5597G>C (p.Gly1866Ala)
|
|
|
NM_000094.4(COL7A1):c.5609G>A (p.Arg1870His)
|
|
|
NM_000094.4(COL7A1):c.5612A>T (p.Asp1871Val)
|
|
|
NM_000094.4(COL7A1):c.5618C>G (p.Pro1873Arg)
|
rs1363574188
|
|
NM_000094.4(COL7A1):c.5626G>A (p.Glu1876Lys)
|
|
|
NM_000094.4(COL7A1):c.5626G>C (p.Glu1876Gln)
|
rs930473908
|
|
NM_000094.4(COL7A1):c.5630G>A (p.Arg1877His)
|
|
|
NM_000094.4(COL7A1):c.5654C>T (p.Pro1885Leu)
|
|
|
NM_000094.4(COL7A1):c.5666C>T (p.Pro1889Leu)
|
|
|
NM_000094.4(COL7A1):c.5668G>A (p.Gly1890Ser)
|
rs2107682264
|
|
NM_000094.4(COL7A1):c.5669G>T (p.Gly1890Val)
|
rs2107682252
|
|
NM_000094.4(COL7A1):c.5672_5698del (p.Leu1891_Gly1899del)
|
|
|
NM_000094.4(COL7A1):c.5675C>T (p.Pro1892Leu)
|
|
|
NM_000094.4(COL7A1):c.5716C>G (p.Pro1906Ala)
|
rs1227012449
|
|
NM_000094.4(COL7A1):c.5737-3C>A
|
rs1345409176
|
|
NM_000094.4(COL7A1):c.5740G>A (p.Asp1914Asn)
|
|
|
NM_000094.4(COL7A1):c.5743C>G (p.Arg1915Gly)
|
|
|
NM_000094.4(COL7A1):c.5743C>T (p.Arg1915Cys)
|
|
|
NM_000094.4(COL7A1):c.5744G>A (p.Arg1915His)
|
|
|
NM_000094.4(COL7A1):c.5759C>T (p.Ser1920Phe)
|
|
|
NM_000094.4(COL7A1):c.5772G>A (p.Gln1924=)
|
rs2107680234
|
|
NM_000094.4(COL7A1):c.5800G>A (p.Gly1934Arg)
|
|
|
NM_000094.4(COL7A1):c.580TTC[3] (p.Phe197del)
|
|
|
NM_000094.4(COL7A1):c.580TTC[5] (p.Phe197dup)
|
rs543646523
|
|
NM_000094.4(COL7A1):c.5820+5G>A
|
|
|
NM_000094.4(COL7A1):c.5820+6C>A
|
|
|
NM_000094.4(COL7A1):c.5820+6C>T
|
rs1481011823
|
|
NM_000094.4(COL7A1):c.5821-19A>T
|
|
|
NM_000094.4(COL7A1):c.5830C>T (p.Arg1944Trp)
|
|
|
NM_000094.4(COL7A1):c.5856+6T>A
|
|
|
NM_000094.4(COL7A1):c.5860T>C (p.Ser1954Pro)
|
|
|
NM_000094.4(COL7A1):c.5863G>A (p.Ala1955Thr)
|
rs2107676519
|
|
NM_000094.4(COL7A1):c.5870G>A (p.Arg1957Gln)
|
|
|
NM_000094.4(COL7A1):c.5878G>C (p.Val1960Leu)
|
|
|
NM_000094.4(COL7A1):c.5906G>A (p.Ser1969Asn)
|
rs2107676353
|
|
NM_000094.4(COL7A1):c.5923G>A (p.Glu1975Lys)
|
|
|
NM_000094.4(COL7A1):c.5924_5927del (p.Glu1975fs)
|
rs1064797080
|
|
NM_000094.4(COL7A1):c.5926C>T (p.Arg1976Trp)
|
rs143307229
|
|
NM_000094.4(COL7A1):c.5930G>A (p.Arg1977His)
|
|
|
NM_000094.4(COL7A1):c.5933G>C (p.Arg1978Pro)
|
rs754315799
|
|
NM_000094.4(COL7A1):c.5938C>T (p.Pro1980Ser)
|
|
|
NM_000094.4(COL7A1):c.593T>C (p.Val198Ala)
|
|
|
NM_000094.4(COL7A1):c.5947G>C (p.Asp1983His)
|
|
|
NM_000094.4(COL7A1):c.596A>G (p.Asn199Ser)
|
|
|
NM_000094.4(COL7A1):c.5984C>A (p.Pro1995His)
|
|
|
NM_000094.4(COL7A1):c.5989G>A (p.Gly1997Ser)
|
|
|
NM_000094.4(COL7A1):c.59G>A (p.Arg20Gln)
|
|
|
NM_000094.4(COL7A1):c.6016G>T (p.Gly2006Cys)
|
|
|
NM_000094.4(COL7A1):c.6019G>A (p.Asp2007Asn)
|
|
|
NM_000094.4(COL7A1):c.6028G>A (p.Asp2010Asn)
|
rs753702106
|
|
NM_000094.4(COL7A1):c.6030C>A (p.Asp2010Glu)
|
|
|
NM_000094.4(COL7A1):c.6036C>G (p.Gly2012=)
|
rs886058636
|
|
NM_000094.4(COL7A1):c.6050C>G (p.Pro2017Arg)
|
rs1402124316
|
|
NM_000094.4(COL7A1):c.6059C>A (p.Ala2020Asp)
|
|
|
NM_000094.4(COL7A1):c.6066G>T (p.Gly2022=)
|
rs2044230625
|
|
NM_000094.4(COL7A1):c.6074G>C (p.Gly2025Ala)
|
|
|
NM_000094.4(COL7A1):c.6079C>T (p.Pro2027Ser)
|
|
|
NM_000094.4(COL7A1):c.608T>G (p.Ile203Ser)
|
|
|
NM_000094.4(COL7A1):c.6094C>T (p.Leu2032Phe)
|
rs778250514
|
|
NM_000094.4(COL7A1):c.6101G>C (p.Gly2034Ala)
|
rs1057520530
|
|
NM_000094.4(COL7A1):c.6111_6119dup (p.Gly2040_Ile2041insLysProGly)
|
|
|
NM_000094.4(COL7A1):c.6121A>G (p.Ile2041Val)
|
rs2107674241
|
|
NM_000094.4(COL7A1):c.6140G>A (p.Arg2047Lys)
|
rs2107674107
|
|
NM_000094.4(COL7A1):c.6145G>A (p.Gly2049Arg)
|
rs1189071165
|
|
NM_000094.4(COL7A1):c.614G>A (p.Arg205Lys)
|
|
|
NM_000094.4(COL7A1):c.6168G>T (p.Arg2056Ser)
|
|
|
NM_000094.4(COL7A1):c.6177G>C (p.Glu2059Asp)
|
rs2044219862
|
|
NM_000094.4(COL7A1):c.6180+23A>T
|
rs1553854648
|
|
NM_000094.4(COL7A1):c.61G>A (p.Val21Met)
|
|
|
NM_000094.4(COL7A1):c.6216G>A (p.Gln2072=)
|
|
|
NM_000094.4(COL7A1):c.6217-3C>T
|
|
|
NM_000094.4(COL7A1):c.6218G>A (p.Gly2073Asp)
|
|
|
NM_000094.4(COL7A1):c.6232C>T (p.Pro2078Ser)
|
|
|
NM_000094.4(COL7A1):c.6245G>T (p.Gly2082Val)
|
rs2107671899
|
|
NM_000094.4(COL7A1):c.6248C>T (p.Thr2083Ile)
|
|
|
NM_000094.4(COL7A1):c.6256C>T (p.Pro2086Ser)
|
|
|
NM_000094.4(COL7A1):c.6257C>T (p.Pro2086Leu)
|
|
|
NM_000094.4(COL7A1):c.6264_6272del (p.2084PGP[2])
|
|
|
NM_000094.4(COL7A1):c.6265C>A (p.Pro2089Thr)
|
rs139920321
|
|
NM_000094.4(COL7A1):c.6265C>T (p.Pro2089Ser)
|
rs139920321
|
|
NM_000094.4(COL7A1):c.6266C>G (p.Pro2089Arg)
|
|
|
NM_000094.4(COL7A1):c.626C>T (p.Pro209Leu)
|
|
|
NM_000094.4(COL7A1):c.6270T>A (p.Pro2090=)
|
rs2044195363
|
|
NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=)
|
rs2044195363
|
|
NM_000094.4(COL7A1):c.6274C>T (p.Pro2092Ser)
|
|
|
NM_000094.4(COL7A1):c.6275C>T (p.Pro2092Leu)
|
|
|
NM_000094.4(COL7A1):c.6286G>A (p.Val2096Met)
|
rs749388962
|
|
NM_000094.4(COL7A1):c.6311C>T (p.Ser2104Phe)
|
rs2107670348
|
|
NM_000094.4(COL7A1):c.6323G>A (p.Gly2108Glu)
|
|
|
NM_000094.4(COL7A1):c.6331G>A (p.Gly2111Arg)
|
|
|
NM_000094.4(COL7A1):c.6356C>T (p.Pro2119Leu)
|
|
|
NM_000094.4(COL7A1):c.6361A>G (p.Ser2121Gly)
|
|
|
NM_000094.4(COL7A1):c.6365A>G (p.Asn2122Ser)
|
|
|
NM_000094.4(COL7A1):c.6391A>G (p.Arg2131Gly)
|
|
|
NM_000094.4(COL7A1):c.6408C>G (p.Ile2136Met)
|
|
|
NM_000094.4(COL7A1):c.6413G>A (p.Gly2138Glu)
|
|
|
NM_000094.4(COL7A1):c.6424G>A (p.Glu2142Lys)
|
|
|
NM_000094.4(COL7A1):c.642A>T (p.Arg214Ser)
|
rs2045831596
|
|
NM_000094.4(COL7A1):c.6433C>T (p.Pro2145Ser)
|
|
|
NM_000094.4(COL7A1):c.6449G>A (p.Gly2150Asp)
|
rs2107668597
|
|
NM_000094.4(COL7A1):c.6453C>A (p.Asn2151Lys)
|
rs747844780
|
|
NM_000094.4(COL7A1):c.6454C>T (p.Pro2152Ser)
|
rs780806207
|
|
NM_000094.4(COL7A1):c.6455C>T (p.Pro2152Leu)
|
|
|
NM_000094.4(COL7A1):c.6457-13C>T
|
|
|
NM_000094.4(COL7A1):c.6458G>A (p.Gly2153Asp)
|
|
|
NM_000094.4(COL7A1):c.6463C>T (p.Pro2155Ser)
|
|
|
NM_000094.4(COL7A1):c.6464C>T (p.Pro2155Leu)
|
rs2044139188
|
|
NM_000094.4(COL7A1):c.6469G>C (p.Glu2157Gln)
|
|
|
NM_000094.4(COL7A1):c.6472C>T (p.Arg2158Cys)
|
rs745851807
|
|
NM_000094.4(COL7A1):c.649A>G (p.Thr217Ala)
|
|
|
NM_000094.4(COL7A1):c.6509A>C (p.Gln2170Pro)
|
|
|
NM_000094.4(COL7A1):c.6515C>T (p.Pro2172Leu)
|
|
|
NM_000094.4(COL7A1):c.6527C>G (p.Pro2176Arg)
|
|
|
NM_000094.4(COL7A1):c.6573G>A (p.Pro2191=)
|
|
|
NM_000094.4(COL7A1):c.6587C>G (p.Pro2196Arg)
|
rs2107663318
|
|
NM_000094.4(COL7A1):c.6590C>T (p.Ala2197Val)
|
|
|
NM_000094.4(COL7A1):c.6595C>T (p.Pro2199Ser)
|
|
|
NM_000094.4(COL7A1):c.6619-12G>T
|
rs886058634
|
|
NM_000094.4(COL7A1):c.6634A>G (p.Thr2212Ala)
|
|
|
NM_000094.4(COL7A1):c.6641C>G (p.Pro2214Arg)
|
|
|
NM_000094.4(COL7A1):c.6643C>G (p.Pro2215Ala)
|
rs1489201304
|
|
NM_000094.4(COL7A1):c.6643C>T (p.Pro2215Ser)
|
rs1489201304
|
|
NM_000094.4(COL7A1):c.6644C>A (p.Pro2215Gln)
|
|
|
NM_000094.4(COL7A1):c.6652-3del
|
rs1181199317
|
|
NM_000094.4(COL7A1):c.6662G>A (p.Gly2221Glu)
|
|
|
NM_000094.4(COL7A1):c.6691C>A (p.Pro2231Thr)
|
rs369838476
|
|
NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser)
|
rs2107661505
|
|
NM_000094.4(COL7A1):c.6700C>T (p.Pro2234Ser)
|
|
|
NM_000094.4(COL7A1):c.6707G>A (p.Gly2236Asp)
|
rs2107661433
|
|
NM_000094.4(COL7A1):c.6713T>C (p.Val2238Ala)
|
|
|
NM_000094.4(COL7A1):c.671T>C (p.Val224Ala)
|
|
|
NM_000094.4(COL7A1):c.6727T>G (p.Ser2243Ala)
|
|
|
NM_000094.4(COL7A1):c.6751-3C>T
|
|
|
NM_000094.4(COL7A1):c.6751G>C (p.Gly2251Arg)
|
rs765034336
|
|
NM_000094.4(COL7A1):c.6761G>A (p.Gly2254Glu)
|
rs2107659875
|
|
NM_000094.4(COL7A1):c.6772G>A (p.Ala2258Thr)
|
|
|
NM_000094.4(COL7A1):c.6818G>A (p.Ser2273Asn)
|
|
|
NM_000094.4(COL7A1):c.6819C>A (p.Ser2273Arg)
|
|
|
NM_000094.4(COL7A1):c.682+5G>A
|
rs767647070
|
|
NM_000094.4(COL7A1):c.6826G>A (p.Val2276Met)
|
rs2107659437
|
|
NM_000094.4(COL7A1):c.6828G>T (p.Val2276=)
|
|
|
NM_000094.4(COL7A1):c.682C>T (p.Pro228Ser)
|
|
|
NM_000094.4(COL7A1):c.6832-3T>A
|
rs1553853065
|
|
NM_000094.4(COL7A1):c.6832-3T>C
|
rs1553853065
|
|
NM_000094.4(COL7A1):c.6832G>C (p.Gly2278Arg)
|
rs1186008166
|
|
NM_000094.4(COL7A1):c.6833G>A (p.Gly2278Glu)
|
|
|
NM_000094.4(COL7A1):c.6835_6846del (p.Ser2279_Leu2282del)
|
|
|
NM_000094.4(COL7A1):c.6838C>T (p.Pro2280Ser)
|
|
|
NM_000094.4(COL7A1):c.683C>A (p.Pro228Gln)
|
|
|
NM_000094.4(COL7A1):c.683C>T (p.Pro228Leu)
|
|
|
NM_000094.4(COL7A1):c.684G>A (p.Pro228=)
|
|
|
NM_000094.4(COL7A1):c.685G>C (p.Asp229His)
|
|
|
NM_000094.4(COL7A1):c.6861A>G (p.Gly2287=)
|
rs1315644130
|
|
NM_000094.4(COL7A1):c.6900+3G>A
|
|
|
NM_000094.4(COL7A1):c.6901-14_6901-13insCCCACAG
|
|
|
NM_000094.4(COL7A1):c.6927G>C (p.Lys2309Asn)
|
|
|
NM_000094.4(COL7A1):c.692C>T (p.Ser231Leu)
|
|
|
NM_000094.4(COL7A1):c.6932A>G (p.Glu2311Gly)
|
|
|
NM_000094.4(COL7A1):c.6936G>T (p.Lys2312Asn)
|
rs933384009
|
|
NM_000094.4(COL7A1):c.6937-10C>A
|
rs369674282
|
|
NM_000094.4(COL7A1):c.6946G>A (p.Gly2316Arg)
|
rs1575430201
|
|
NM_000094.4(COL7A1):c.6972T>G (p.Gly2324=)
|
|
|
NM_000094.4(COL7A1):c.6976C>A (p.Pro2326Thr)
|
|
|
NM_000094.4(COL7A1):c.6977C>T (p.Pro2326Leu)
|
|
|
NM_000094.4(COL7A1):c.6978+6T>C
|
rs1223788979
|
|
NM_000094.4(COL7A1):c.6978G>A (p.Pro2326=)
|
|
|
NM_000094.4(COL7A1):c.6988G>A (p.Gly2330Ser)
|
|
|
NM_000094.4(COL7A1):c.7001T>A (p.Leu2334Gln)
|
|
|
NM_000094.4(COL7A1):c.7007G>A (p.Gly2336Glu)
|
rs2107655052
|
|
NM_000094.4(COL7A1):c.7013G>A (p.Arg2338Gln)
|
rs201011691
|
|
NM_000094.4(COL7A1):c.7018G>A (p.Glu2340Lys)
|
|
|
NM_000094.4(COL7A1):c.7029A>G (p.Glu2343=)
|
rs1185578654
|
|
NM_000094.4(COL7A1):c.7045G>A (p.Glu2349Lys)
|
|
|
NM_000094.4(COL7A1):c.7061G>A (p.Gly2354Glu)
|
rs2107654190
|
|
NM_000094.4(COL7A1):c.7069-13T>A
|
|
|
NM_000094.4(COL7A1):c.7069-3T>A
|
rs2043901711
|
|
NM_000094.4(COL7A1):c.7069-3T>G
|
rs2043901711
|
|
NM_000094.4(COL7A1):c.7090C>A (p.Pro2364Thr)
|
rs113813395
|
|
NM_000094.4(COL7A1):c.7090C>T (p.Pro2364Ser)
|
|
|
NM_000094.4(COL7A1):c.7105G>A (p.Gly2369Ser)
|
rs2107650142
|
|
NM_000094.4(COL7A1):c.711C>G (p.Asp237Glu)
|
|
|
NM_000094.4(COL7A1):c.7133C>T (p.Ser2378Phe)
|
|
|
NM_000094.4(COL7A1):c.7145C>G (p.Pro2382Arg)
|
|
|
NM_000094.4(COL7A1):c.7148G>A (p.Gly2383Asp)
|
|
|
NM_000094.4(COL7A1):c.7148G>C (p.Gly2383Ala)
|
|
|
NM_000094.4(COL7A1):c.7153C>T (p.Pro2385Ser)
|
|
|
NM_000094.4(COL7A1):c.7157G>A (p.Gly2386Asp)
|
|
|
NM_000094.4(COL7A1):c.7164+3A>G
|
|
|
NM_000094.4(COL7A1):c.7164G>A (p.Lys2388=)
|
|
|
NM_000094.4(COL7A1):c.7168G>T (p.Asp2390Tyr)
|
|
|
NM_000094.4(COL7A1):c.7169A>G (p.Asp2390Gly)
|
rs2107649138
|
|
NM_000094.4(COL7A1):c.717G>A (p.Val239=)
|
rs777003245
|
|
NM_000094.4(COL7A1):c.7181C>G (p.Pro2394Arg)
|
|
|
NM_000094.4(COL7A1):c.7190C>T (p.Pro2397Leu)
|
|
|
NM_000094.4(COL7A1):c.7191C>T (p.Pro2397=)
|
rs34360255
|
|
NM_000094.4(COL7A1):c.71A>G (p.Gln24Arg)
|
|
|
NM_000094.4(COL7A1):c.7202G>C (p.Gly2401Ala)
|
rs1487726311
|
|
NM_000094.4(COL7A1):c.7205TTG[1] (p.Val2403del)
|
|
|
NM_000094.4(COL7A1):c.7215C>A (p.Phe2405Leu)
|
rs779587550
|
|
NM_000094.4(COL7A1):c.7215C>G (p.Phe2405Leu)
|
rs779587550
|
|
NM_000094.4(COL7A1):c.7215C>T (p.Phe2405=)
|
rs779587550
|
|
NM_000094.4(COL7A1):c.7223A>G (p.Gln2408Arg)
|
|
|
NM_000094.4(COL7A1):c.7235G>T (p.Arg2412Leu)
|
rs907836697
|
|
NM_000094.4(COL7A1):c.724G>A (p.Glu242Lys)
|
rs549872555
|
|
NM_000094.4(COL7A1):c.7256G>A (p.Gly2419Asp)
|
|
|
NM_000094.4(COL7A1):c.7256G>T (p.Gly2419Val)
|
|
|
NM_000094.4(COL7A1):c.7268A>G (p.Glu2423Gly)
|
|
|
NM_000094.4(COL7A1):c.7271G>A (p.Arg2424Gln)
|
|
|
NM_000094.4(COL7A1):c.7272+5G>A
|
rs2043871373
|
|
NM_000094.4(COL7A1):c.7273G>T (p.Gly2425Cys)
|
rs886058633
|
|
NM_000094.4(COL7A1):c.7280C>A (p.Ala2427Glu)
|
|
|
NM_000094.4(COL7A1):c.7289C>G (p.Pro2430Arg)
|
|
|
NM_000094.4(COL7A1):c.7295G>A (p.Arg2432Lys)
|
|
|
NM_000094.4(COL7A1):c.7313C>A (p.Pro2438His)
|
|
|
NM_000094.4(COL7A1):c.7336G>A (p.Gly2446Arg)
|
|
|
NM_000094.4(COL7A1):c.734G>T (p.Ser245Ile)
|
|
|
NM_000094.4(COL7A1):c.7363G>A (p.Gly2455Arg)
|
|
|
NM_000094.4(COL7A1):c.7378A>C (p.Lys2460Gln)
|
|
|
NM_000094.4(COL7A1):c.7381-18T>A
|
|
|
NM_000094.4(COL7A1):c.7381-20G>A
|
|
|
NM_000094.4(COL7A1):c.7381-8G>T
|
|
|
NM_000094.4(COL7A1):c.7403C>G (p.Pro2468Arg)
|
|
|
NM_000094.4(COL7A1):c.7408C>A (p.Pro2470Thr)
|
rs886058632
|
|
NM_000094.4(COL7A1):c.740C>A (p.Ser247Tyr)
|
rs770500830
|
|
NM_000094.4(COL7A1):c.7412G>A (p.Arg2471Gln)
|
rs369221071
|
|
NM_000094.4(COL7A1):c.7420C>T (p.Arg2474Cys)
|
|
|
NM_000094.4(COL7A1):c.7438C>T (p.Arg2480Trp)
|
|
|
NM_000094.4(COL7A1):c.7439G>A (p.Arg2480Gln)
|
|
|
NM_000094.4(COL7A1):c.7440+5G>A
|
|
|
NM_000094.4(COL7A1):c.7449T>A (p.Asp2483Glu)
|
|
|
NM_000094.4(COL7A1):c.744G>C (p.Leu248Phe)
|
|
|
NM_000094.4(COL7A1):c.7453C>T (p.Arg2485Cys)
|
|
|
NM_000094.4(COL7A1):c.7454G>A (p.Arg2485His)
|
|
|
NM_000094.4(COL7A1):c.7457C>G (p.Pro2486Arg)
|
|
|
NM_000094.4(COL7A1):c.7466A>C (p.Glu2489Ala)
|
rs2107644797
|
|
NM_000094.4(COL7A1):c.7474C>G (p.Arg2492Gly)
|
|
|
NM_000094.4(COL7A1):c.7475G>A (p.Arg2492Gln)
|
|
|
NM_000094.4(COL7A1):c.7485+6del
|
rs1339353383
|
|
NM_000094.4(COL7A1):c.7507G>A (p.Glu2503Lys)
|
|
|
NM_000094.4(COL7A1):c.7507G>C (p.Glu2503Gln)
|
|
|
NM_000094.4(COL7A1):c.7511G>A (p.Arg2504His)
|
|
|
NM_000094.4(COL7A1):c.7511G>T (p.Arg2504Leu)
|
|
|
NM_000094.4(COL7A1):c.7521G>A (p.Lys2507=)
|
|
|
NM_000094.4(COL7A1):c.7522-11_7522-10del
|
|
|
NM_000094.4(COL7A1):c.7522-4A>G
|
|
|
NM_000094.4(COL7A1):c.7522-7C>A
|
|
|
NM_000094.4(COL7A1):c.7594C>T (p.Arg2532Trp)
|
|
|
NM_000094.4(COL7A1):c.7613T>C (p.Met2538Thr)
|
|
|
NM_000094.4(COL7A1):c.7614+6T>C
|
|
|
NM_000094.4(COL7A1):c.7614G>A (p.Met2538Ile)
|
|
|
NM_000094.4(COL7A1):c.7615-5C>G
|
|
|
NM_000094.4(COL7A1):c.7619A>G (p.Glu2540Gly)
|
|
|
NM_000094.4(COL7A1):c.7620_7646del (p.Glu2540_Gly2548del)
|
|
|
NM_000094.4(COL7A1):c.7622G>A (p.Arg2541Gln)
|
|
|
NM_000094.4(COL7A1):c.7627C>T (p.Pro2543Ser)
|
rs2043774045
|
|
NM_000094.4(COL7A1):c.7636T>A (p.Leu2546Met)
|
|
|
NM_000094.4(COL7A1):c.764C>T (p.Ala255Val)
|
|
|
NM_000094.4(COL7A1):c.7657C>T (p.Arg2553Trp)
|
|
|
NM_000094.4(COL7A1):c.7658G>A (p.Arg2553Gln)
|
|
|
NM_000094.4(COL7A1):c.7663G>A (p.Asp2555Asn)
|
|
|
NM_000094.4(COL7A1):c.7676C>T (p.Pro2559Leu)
|
rs2043771641
|
|
NM_000094.4(COL7A1):c.767G>A (p.Ser256Asn)
|
|
|
NM_000094.4(COL7A1):c.7683C>A (p.Asp2561Glu)
|
|
|
NM_000094.4(COL7A1):c.7686+13G>A
|
|
|
NM_000094.4(COL7A1):c.7686+9A>G
|
rs368187472
|
|
NM_000094.4(COL7A1):c.7690A>G (p.Ser2564Gly)
|
rs2107639863
|
|
NM_000094.4(COL7A1):c.7694A>G (p.Lys2565Arg)
|
|
|
NM_000094.4(COL7A1):c.76A>G (p.Arg26Gly)
|
rs923284415
|
|
NM_000094.4(COL7A1):c.7711A>G (p.Lys2571Glu)
|
|
|
NM_000094.4(COL7A1):c.7728G>T (p.Leu2576Phe)
|
|
|
NM_000094.4(COL7A1):c.7758+15A>T
|
|
|
NM_000094.4(COL7A1):c.7759G>A (p.Gly2587Ser)
|
rs977778252
|
|
NM_000094.4(COL7A1):c.7792C>T (p.Pro2598Ser)
|
rs2107638447
|
|
NM_000094.4(COL7A1):c.7795-9C>G
|
|
|
NM_000094.4(COL7A1):c.7846G>A (p.Val2616Ile)
|
|
|
NM_000094.4(COL7A1):c.7875+4G>A
|
|
|
NM_000094.4(COL7A1):c.7883G>A (p.Arg2628Gln)
|
|
|
NM_000094.4(COL7A1):c.7901G>C (p.Cys2634Ser)
|
|
|
NM_000094.4(COL7A1):c.7918A>G (p.Lys2640Glu)
|
|
|
NM_000094.4(COL7A1):c.7929+11_7929+26del
|
rs773394779
|
|
NM_000094.4(COL7A1):c.7929+3A>T
|
rs886058631
|
|
NM_000094.4(COL7A1):c.7929+5A>G
|
|
|
NM_000094.4(COL7A1):c.7951C>T (p.Arg2651Cys)
|
|
|
NM_000094.4(COL7A1):c.7952G>A (p.Arg2651His)
|
|
|
NM_000094.4(COL7A1):c.7964C>T (p.Ala2655Val)
|
|
|
NM_000094.4(COL7A1):c.7972A>C (p.Lys2658Gln)
|
|
|
NM_000094.4(COL7A1):c.7975G>A (p.Gly2659Arg)
|
rs2107635664
|
|
NM_000094.4(COL7A1):c.7976G>A (p.Gly2659Glu)
|
rs2107635651
|
|
NM_000094.4(COL7A1):c.7978G>C (p.Glu2660Gln)
|
|
|
NM_000094.4(COL7A1):c.7983G>A (p.Met2661Ile)
|
|
|
NM_000094.4(COL7A1):c.7991C>T (p.Pro2664Leu)
|
|
|
NM_000094.4(COL7A1):c.7994G>C (p.Gly2665Ala)
|
|
|
NM_000094.4(COL7A1):c.8003G>C (p.Gly2668Ala)
|
rs539565729
|
|
NM_000094.4(COL7A1):c.8009C>T (p.Ser2670Leu)
|
|
|
NM_000094.4(COL7A1):c.8015C>G (p.Ala2672Gly)
|
|
|
NM_000094.4(COL7A1):c.8017C>G (p.Pro2673Ala)
|
|
|
NM_000094.4(COL7A1):c.8018C>T (p.Pro2673Leu)
|
|
|
NM_000094.4(COL7A1):c.8046+3A>T
|
rs2107634885
|
|
NM_000094.4(COL7A1):c.8046+8G>T
|
|
|
NM_000094.4(COL7A1):c.8054G>A (p.Arg2685Gln)
|
|
|
NM_000094.4(COL7A1):c.806T>C (p.Leu269Pro)
|
|
|
NM_000094.4(COL7A1):c.8078C>T (p.Pro2693Leu)
|
|
|
NM_000094.4(COL7A1):c.8082G>C (p.Lys2694Asn)
|
|
|
NM_000094.4(COL7A1):c.8084G>T (p.Gly2695Val)
|
|
|
NM_000094.4(COL7A1):c.8094C>A (p.Gly2698=)
|
rs199936185
|
|
NM_000094.4(COL7A1):c.809C>T (p.Thr270Met)
|
|
|
NM_000094.4(COL7A1):c.80A>G (p.Glu27Gly)
|
rs2107811799
|
|
NM_000094.4(COL7A1):c.80A>T (p.Glu27Val)
|
rs2107811799
|
|
NM_000094.4(COL7A1):c.8109+3G>A
|
|
|
NM_000094.4(COL7A1):c.8109+5G>C
|
|
|
NM_000094.4(COL7A1):c.8109G>A (p.Arg2703=)
|
|
|
NM_000094.4(COL7A1):c.811G>C (p.Gly271Arg)
|
|
|
NM_000094.4(COL7A1):c.8126G>C (p.Gly2709Ala)
|
|
|
NM_000094.4(COL7A1):c.812G>A (p.Gly271Glu)
|
|
|
NM_000094.4(COL7A1):c.8140C>A (p.Pro2714Thr)
|
|
|
NM_000094.4(COL7A1):c.8158T>C (p.Ser2720Pro)
|
|
|
NM_000094.4(COL7A1):c.8159C>T (p.Ser2720Phe)
|
|
|
NM_000094.4(COL7A1):c.8227-3C>T
|
rs761592627
|
|
NM_000094.4(COL7A1):c.8236G>C (p.Gly2746Arg)
|
rs2107632058
|
|
NM_000094.4(COL7A1):c.8239C>T (p.Pro2747Ser)
|
rs1218556461
|
|
NM_000094.4(COL7A1):c.8244C>T (p.Pro2748=)
|
rs749575902
|
|
NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu)
|
rs2107631988
|
|
NM_000094.4(COL7A1):c.8263G>A (p.Ala2755Thr)
|
|
|
NM_000094.4(COL7A1):c.8266C>T (p.Pro2756Ser)
|
rs755546809
|
|
NM_000094.4(COL7A1):c.8305-3T>C
|
|
|
NM_000094.4(COL7A1):c.8305G>C (p.Gly2769Arg)
|
rs1266365479
|
|
NM_000094.4(COL7A1):c.831G>A (p.Pro277=)
|
rs749004650
|
|
NM_000094.4(COL7A1):c.8330G>A (p.Arg2777Gln)
|
|
|
NM_000094.4(COL7A1):c.8348C>G (p.Ala2783Gly)
|
|
|
NM_000094.4(COL7A1):c.8357C>T (p.Thr2786Met)
|
|
|
NM_000094.4(COL7A1):c.8358+3G>A
|
|
|
NM_000094.4(COL7A1):c.8358+5G>T
|
|
|
NM_000094.4(COL7A1):c.8358G>A (p.Thr2786=)
|
|
|
NM_000094.4(COL7A1):c.8359-16G>A
|
|
|
NM_000094.4(COL7A1):c.8383C>T (p.Arg2795Cys)
|
|
|
NM_000094.4(COL7A1):c.8392A>G (p.Met2798Val)
|
|
|
NM_000094.4(COL7A1):c.8394G>A (p.Met2798Ile)
|
|
|
NM_000094.4(COL7A1):c.8405G>C (p.Cys2802Ser)
|
|
|
NM_000094.4(COL7A1):c.8407+10G>T
|
rs754593655
|
|
NM_000094.4(COL7A1):c.8415G>C (p.Gln2805His)
|
rs778068500
|
|
NM_000094.4(COL7A1):c.8443C>T (p.Pro2815Ser)
|
|
|
NM_000094.4(COL7A1):c.8444C>T (p.Pro2815Leu)
|
rs2043563684
|
|
NM_000094.4(COL7A1):c.8446C>T (p.Leu2816Phe)
|
|
|
NM_000094.4(COL7A1):c.8450C>T (p.Pro2817Leu)
|
|
|
NM_000094.4(COL7A1):c.846+18A>G
|
|
|
NM_000094.4(COL7A1):c.846G>A (p.Glu282=)
|
rs770216458
|
|
NM_000094.4(COL7A1):c.8471C>T (p.Ala2824Val)
|
|
|
NM_000094.4(COL7A1):c.8473G>C (p.Gly2825Arg)
|
|
|
NM_000094.4(COL7A1):c.8482C>T (p.Leu2828Phe)
|
|
|
NM_000094.4(COL7A1):c.8485C>T (p.His2829Tyr)
|
rs2043561757
|
|
NM_000094.4(COL7A1):c.8498T>C (p.Val2833Ala)
|
|
|
NM_000094.4(COL7A1):c.8498T>G (p.Val2833Gly)
|
rs1360820174
|
|
NM_000094.4(COL7A1):c.84A>G (p.Arg28=)
|
rs1559444716
|
|
NM_000094.4(COL7A1):c.8510C>T (p.Ser2837Phe)
|
|
|
NM_000094.4(COL7A1):c.8531G>A (p.Arg2844Gln)
|
|
|
NM_000094.4(COL7A1):c.8536C>A (p.Pro2846Thr)
|
|
|
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.8542G>A (p.Glu2848Lys)
|
rs2107626662
|
|
NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)
|
rs372166543
|
|
NM_000094.4(COL7A1):c.856C>A (p.Pro286Thr)
|
|
|
NM_000094.4(COL7A1):c.8575T>G (p.Ser2859Ala)
|
|
|
NM_000094.4(COL7A1):c.8581G>C (p.Glu2861Gln)
|
|
|
NM_000094.4(COL7A1):c.85G>C (p.Val29Leu)
|
rs2107811679
|
|
NM_000094.4(COL7A1):c.8610G>C (p.Trp2870Cys)
|
|
|
NM_000094.4(COL7A1):c.8612A>G (p.Asp2871Gly)
|
|
|
NM_000094.4(COL7A1):c.862G>A (p.Gly288Ser)
|
rs747720093
|
|
NM_000094.4(COL7A1):c.8631C>A (p.Ser2877=)
|
rs886058628
|
|
NM_000094.4(COL7A1):c.8647G>A (p.Gly2883Ser)
|
|
|
NM_000094.4(COL7A1):c.8657C>T (p.Thr2886Ile)
|
rs2107625632
|
|
NM_000094.4(COL7A1):c.8662_8667del (p.Tyr2888_Thr2889del)
|
|
|
NM_000094.4(COL7A1):c.8666C>T (p.Thr2889Ile)
|
|
|
NM_000094.4(COL7A1):c.8671C>T (p.Arg2891Cys)
|
|
|
NM_000094.4(COL7A1):c.8684G>C (p.Arg2895Pro)
|
rs147911102
|
|
NM_000094.4(COL7A1):c.869C>A (p.Thr290Asn)
|
|
|
NM_000094.4(COL7A1):c.8716C>G (p.Pro2906Ala)
|
|
|
NM_000094.4(COL7A1):c.8726A>G (p.Tyr2909Cys)
|
rs139416916
|
|
NM_000094.4(COL7A1):c.8729G>T (p.Gly2910Val)
|
rs1242922135
|
|
NM_000094.4(COL7A1):c.8732G>A (p.Gly2911Asp)
|
|
|
NM_000094.4(COL7A1):c.873T>A (p.Ser291Arg)
|
rs2107795279
|
|
NM_000094.4(COL7A1):c.8747C>T (p.Ala2916Val)
|
|
|
NM_000094.4(COL7A1):c.8749A>G (p.Asn2917Asp)
|
|
|
NM_000094.4(COL7A1):c.8752C>T (p.Arg2918Cys)
|
|
|
NM_000094.4(COL7A1):c.8756T>C (p.Phe2919Ser)
|
|
|
NM_000094.4(COL7A1):c.8759G>A (p.Gly2920Glu)
|
|
|
NM_000094.4(COL7A1):c.8761A>G (p.Thr2921Ala)
|
|
|
NM_000094.4(COL7A1):c.8770G>A (p.Ala2924Thr)
|
|
|
NM_000094.4(COL7A1):c.8777A>T (p.Glu2926Val)
|
|
|
NM_000094.4(COL7A1):c.8782C>T (p.Arg2928Cys)
|
|
|
NM_000094.4(COL7A1):c.8797G>C (p.Val2933Leu)
|
|
|
NM_000094.4(COL7A1):c.8800G>T (p.Val2934Phe)
|
rs903839030
|
|
NM_000094.4(COL7A1):c.8807G>T (p.Ser2936Ile)
|
|
|
NM_000094.4(COL7A1):c.8809C>G (p.Gln2937Glu)
|
|
|
NM_000094.4(COL7A1):c.8818+2T>A
|
rs1171778175
|
|
NM_000094.4(COL7A1):c.8818+4T>G
|
|
|
NM_000094.4(COL7A1):c.888T>C (p.Gly296=)
|
rs1575492483
|
|
NM_000094.4(COL7A1):c.892C>T (p.Arg298Trp)
|
|
|
NM_000094.4(COL7A1):c.901A>G (p.Thr301Ala)
|
|
|
NM_000094.4(COL7A1):c.913G>A (p.Val305Met)
|
|
|
NM_000094.4(COL7A1):c.926C>T (p.Ala309Val)
|
|
|
NM_000094.4(COL7A1):c.932A>G (p.Tyr311Cys)
|
|
|
NM_000094.4(COL7A1):c.940A>C (p.Ser314Arg)
|
|
|
NM_000094.4(COL7A1):c.941G>T (p.Ser314Ile)
|
rs1025287667
|
|
NM_000094.4(COL7A1):c.946G>C (p.Gly316Arg)
|
rs776344680
|
|
NM_000094.4(COL7A1):c.955G>A (p.Val319Met)
|
|
|
NM_000094.4(COL7A1):c.95C>A (p.Thr32Lys)
|
|
|
NM_000094.4(COL7A1):c.95C>T (p.Thr32Met)
|
|
|
NM_000094.4(COL7A1):c.971G>C (p.Arg324Pro)
|
rs371939692
|
|
NM_000094.4(COL7A1):c.974C>T (p.Thr325Ile)
|
|
|
NM_000094.4(COL7A1):c.976+4A>T
|
rs2107794243
|
|
NM_000094.4(COL7A1):c.977-3C>T
|
|
|
NM_000094.4(COL7A1):c.998T>C (p.Leu333Pro)
|
rs2107793377
|
|