NM_000094.4(COL7A1):c.2817A>G (p.Pro939=)
|
rs1264194
|
0.74947
|
NM_000094.4(COL7A1):c.3139+12G>A
|
rs2255532
|
0.46226
|
NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu)
|
rs2228561
|
0.09897
|
NM_000094.4(COL7A1):c.8620+17_8620+18insTGC
|
rs35631233
|
0.05556
|
NM_000094.4(COL7A1):c.8305-20G>C
|
rs17256786
|
0.05213
|
NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu)
|
rs35761247
|
0.03954
|
NM_000094.4(COL7A1):c.8359-19T>C
|
rs78922394
|
0.02970
|
NM_000094.4(COL7A1):c.2314+15G>A
|
rs144483183
|
0.02210
|
NM_000094.4(COL7A1):c.6715-18C>T
|
rs13325221
|
0.01922
|
NM_000094.4(COL7A1):c.3975+11C>T
|
rs7637885
|
0.01719
|
NM_000094.4(COL7A1):c.89C>T (p.Thr30Ile)
|
rs74453879
|
0.01453
|
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=)
|
rs61729223
|
0.01181
|
NM_000094.4(COL7A1):c.4483-11T>C
|
rs74390291
|
0.00781
|
NM_000094.4(COL7A1):c.6217-6C>T
|
rs191559835
|
0.00648
|
NM_000094.4(COL7A1):c.5590G>A (p.Ala1864Thr)
|
rs17080261
|
0.00636
|
NM_000094.4(COL7A1):c.7286C>T (p.Pro2429Leu)
|
rs2229822
|
0.00472
|
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
NM_000094.4(COL7A1):c.1383A>G (p.Val461=)
|
rs112805032
|
0.00414
|
NM_000094.4(COL7A1):c.4613G>A (p.Arg1538His)
|
rs2229824
|
0.00408
|
NM_000094.4(COL7A1):c.1628G>A (p.Ser543Asn)
|
rs76410546
|
0.00401
|
NM_000094.4(COL7A1):c.3759+16C>T
|
rs185689852
|
0.00394
|
NM_000094.4(COL7A1):c.5778C>T (p.Leu1926=)
|
rs113151410
|
0.00384
|
NM_000094.4(COL7A1):c.683-8A>G
|
rs113167762
|
0.00363
|
NM_000094.4(COL7A1):c.5307+7G>C
|
rs116455408
|
0.00347
|
NM_000094.4(COL7A1):c.54G>C (p.Ala18=)
|
rs35899847
|
0.00343
|
NM_000094.4(COL7A1):c.6937-9C>G
|
rs143589222
|
0.00323
|
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.5125-6C>T
|
rs372345936
|
0.00284
|
NM_000094.4(COL7A1):c.2441-18G>A
|
rs115504500
|
0.00274
|
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.3889G>A (p.Glu1297Lys)
|
rs149881350
|
0.00138
|
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=)
|
rs139521707
|
0.00121
|
NM_000094.4(COL7A1):c.6090C>T (p.Ser2030=)
|
rs200360245
|
0.00121
|
NM_000094.4(COL7A1):c.5737-17G>T
|
rs150337561
|
0.00117
|
NM_000094.4(COL7A1):c.7930-19C>G
|
rs191603815
|
0.00116
|
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu)
|
rs140114392
|
0.00113
|
NM_000094.4(COL7A1):c.4068C>T (p.Ile1356=)
|
rs146913953
|
0.00111
|
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)
|
rs142566193
|
0.00109
|
NM_000094.4(COL7A1):c.5388+20C>T
|
rs200931039
|
0.00101
|
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu)
|
rs149267939
|
0.00098
|
NM_000094.4(COL7A1):c.1191C>G (p.Thr397=)
|
rs143270071
|
0.00096
|
NM_000094.4(COL7A1):c.2242G>A (p.Glu748Lys)
|
rs148411473
|
0.00095
|
NM_000094.4(COL7A1):c.8568C>T (p.Ser2856=)
|
rs148454724
|
0.00093
|
NM_000094.4(COL7A1):c.6279+6C>T
|
rs199924999
|
0.00089
|
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.7313C>G (p.Pro2438Arg)
|
rs185142403
|
0.00080
|
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.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.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.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.5572G>A (p.Glu1858Lys)
|
rs147633212
|
0.00050
|
NM_000094.4(COL7A1):c.4722+11C>T
|
rs145729790
|
0.00049
|
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.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.1836G>T (p.Thr612=)
|
rs151186709
|
0.00035
|
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.5235+19C>T
|
rs2070771
|
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.4636-3C>T
|
rs200981821
|
0.00024
|
NM_000094.4(COL7A1):c.5125-10C>T
|
rs768482060
|
0.00024
|
NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys)
|
rs199819125
|
0.00024
|
NM_000094.4(COL7A1):c.7687-6C>T
|
rs200429526
|
0.00024
|
NM_000094.4(COL7A1):c.2371G>A (p.Val791Ile)
|
rs113483524
|
0.00023
|
NM_000094.4(COL7A1):c.6357G>A (p.Pro2119=)
|
rs142298581
|
0.00023
|
NM_000094.4(COL7A1):c.8240C>T (p.Pro2747Leu)
|
rs139566877
|
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.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.5271+14T>G
|
rs753359881
|
0.00020
|
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr)
|
rs149342284
|
0.00019
|
NM_000094.4(COL7A1):c.5568+15C>G
|
rs575815442
|
0.00019
|
NM_000094.4(COL7A1):c.5737-15C>A
|
rs371977017
|
0.00019
|
NM_000094.4(COL7A1):c.7008G>A (p.Gly2336=)
|
rs117723065
|
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.3786+15G>A
|
rs373252766
|
0.00018
|
NM_000094.4(COL7A1):c.6502-10C>G
|
rs200193957
|
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.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.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.630C>T (p.Leu210=)
|
rs117857033
|
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.7510C>T (p.Arg2504Cys)
|
rs201897441
|
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.5798G>A (p.Arg1933Gln)
|
rs201722048
|
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.4780C>T (p.Arg1594Trp)
|
rs267599859
|
0.00012
|
NM_000094.4(COL7A1):c.5271+8A>G
|
rs369192298
|
0.00012
|
NM_000094.4(COL7A1):c.5986A>G (p.Ile1996Val)
|
rs771271966
|
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.8094C>T (p.Gly2698=)
|
rs199936185
|
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.5820G>A (p.Pro1940=)
|
rs200972872
|
0.00010
|
NM_000094.4(COL7A1):c.6081C>T (p.Pro2027=)
|
rs375047225
|
0.00010
|
NM_000094.4(COL7A1):c.6500C>T (p.Pro2167Leu)
|
rs200473808
|
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.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.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.425A>G (p.Lys142Arg)
|
rs121912856
|
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.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.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.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.7614+20G>T
|
rs544920947
|
0.00007
|
NM_000094.4(COL7A1):c.8007G>C (p.Gln2669His)
|
rs369881673
|
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.128T>C (p.Leu43Pro)
|
rs149317921
|
0.00006
|
NM_000094.4(COL7A1):c.1325G>A (p.Arg442His)
|
rs146415546
|
0.00006
|
NM_000094.4(COL7A1):c.1527C>T (p.Ser509=)
|
rs78149541
|
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.2666C>T (p.Pro889Leu)
|
rs146783561
|
0.00006
|
NM_000094.4(COL7A1):c.30C>T (p.Leu10=)
|
rs376832250
|
0.00006
|
NM_000094.4(COL7A1):c.3566T>C (p.Met1189Thr)
|
rs371470848
|
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.4517G>A (p.Arg1506Gln)
|
rs372793584
|
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.4720C>T (p.Arg1574Trp)
|
rs773815805
|
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.6021C>A (p.Asp2007Glu)
|
rs199603961
|
0.00006
|
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala)
|
rs372838887
|
0.00006
|
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)
|
rs767539005
|
0.00006
|
NM_000094.4(COL7A1):c.682+18C>T
|
rs774430763
|
0.00006
|
NM_000094.4(COL7A1):c.7036C>T (p.Arg2346Cys)
|
rs145729761
|
0.00006
|
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=)
|
rs201728948
|
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.314G>A (p.Arg105His)
|
rs370534336
|
0.00005
|
NM_000094.4(COL7A1):c.3158C>T (p.Ala1053Val)
|
rs574853557
|
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.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.5533-10C>G
|
rs201264274
|
0.00005
|
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His)
|
rs768326843
|
0.00005
|
NM_000094.4(COL7A1):c.6206G>A (p.Arg2069His)
|
rs773938350
|
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.7120G>A (p.Gly2374Arg)
|
rs181430415
|
0.00005
|
NM_000094.4(COL7A1):c.7794G>A (p.Pro2598=)
|
rs377067446
|
0.00005
|
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)
|
rs139318843
|
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.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.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.2766C>T (p.Asp922=)
|
rs201424023
|
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.3412G>A (p.Val1138Met)
|
rs145048666
|
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.427-14T>C
|
rs552110604
|
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.4561G>C (p.Glu1521Gln)
|
rs373745858
|
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.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.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.6473G>A (p.Arg2158His)
|
rs138626345
|
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.7048C>T (p.Pro2350Ser)
|
rs749870307
|
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.8206G>A (p.Glu2736Lys)
|
rs779942952
|
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.8401C>T (p.His2801Tyr)
|
rs375653257
|
0.00004
|
NM_000094.4(COL7A1):c.8418C>A (p.Gly2806=)
|
rs150945887
|
0.00004
|
NM_000094.4(COL7A1):c.8473G>A (p.Gly2825Ser)
|
rs139308059
|
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.1624C>T (p.Arg542Cys)
|
rs780602305
|
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.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.2121C>T (p.Thr707=)
|
rs763486900
|
0.00003
|
NM_000094.4(COL7A1):c.2887C>T (p.Arg963Cys)
|
rs773083989
|
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.3841G>A (p.Gly1281Ser)
|
rs569641113
|
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.4329G>T (p.Lys1443Asn)
|
rs752495777
|
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.4996C>T (p.Arg1666Trp)
|
rs764442838
|
0.00003
|
NM_000094.4(COL7A1):c.540T>A (p.Pro180=)
|
rs1473537751
|
0.00003
|
NM_000094.4(COL7A1):c.5499C>T (p.Gly1833=)
|
rs758886532
|
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.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.6501+1G>C
|
rs759644973
|
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.682+1G>A
|
rs775288140
|
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.7344+1G>T
|
rs754469339
|
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.7939G>A (p.Gly2647Ser)
|
rs749788045
|
0.00003
|
NM_000094.4(COL7A1):c.8054G>C (p.Arg2685Pro)
|
rs886058630
|
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.8440C>T (p.Arg2814Ter)
|
rs143457874
|
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.1442G>A (p.Arg481His)
|
rs147040026
|
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.1732C>T (p.Arg578Ter)
|
rs144023803
|
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.2169C>T (p.His723=)
|
rs147643230
|
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.2596G>T (p.Ala866Ser)
|
rs779814851
|
0.00002
|
NM_000094.4(COL7A1):c.2645C>T (p.Ser882Leu)
|
rs372767169
|
0.00002
|
NM_000094.4(COL7A1):c.267-6C>T
|
rs1361765533
|
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.2793C>A (p.Arg931=)
|
rs142681592
|
0.00002
|
NM_000094.4(COL7A1):c.3135G>A (p.Thr1045=)
|
rs775612520
|
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.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.3602G>A (p.Arg1201His)
|
rs189206728
|
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.4018C>T (p.Arg1340Ter)
|
rs761927109
|
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.4519-2del
|
rs778443262
|
0.00002
|
NM_000094.4(COL7A1):c.4600-9T>C
|
rs894344282
|
0.00002
|
NM_000094.4(COL7A1):c.4605G>C (p.Glu1535Asp)
|
rs1285793084
|
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.4934C>T (p.Pro1645Leu)
|
rs764468586
|
0.00002
|
NM_000094.4(COL7A1):c.4936-4C>A
|
rs370507375
|
0.00002
|
NM_000094.4(COL7A1):c.497dup (p.Val168fs)
|
rs766902987
|
0.00002
|
NM_000094.4(COL7A1):c.4981-9T>C
|
rs746536715
|
0.00002
|
NM_000094.4(COL7A1):c.5087G>A (p.Arg1696His)
|
rs749128852
|
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.5350G>C (p.Asp1784His)
|
rs200632851
|
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.5440C>T (p.Arg1814Cys)
|
rs778035441
|
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.5560G>A (p.Gly1854Arg)
|
rs146234310
|
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.6171A>C (p.Pro2057=)
|
rs763064296
|
0.00002
|
NM_000094.4(COL7A1):c.6216+19C>T
|
rs528874430
|
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.6714+3G>A
|
rs1446545673
|
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.7012C>T (p.Arg2338Ter)
|
rs745874032
|
0.00002
|
NM_000094.4(COL7A1):c.7068+5G>A
|
rs779875751
|
0.00002
|
NM_000094.4(COL7A1):c.7104+1G>A
|
rs772756089
|
0.00002
|
NM_000094.4(COL7A1):c.7196C>T (p.Ala2399Val)
|
rs751885031
|
0.00002
|
NM_000094.4(COL7A1):c.7437_7440+4del
|
rs750153731
|
0.00002
|
NM_000094.4(COL7A1):c.7458C>T (p.Pro2486=)
|
rs766547317
|
0.00002
|
NM_000094.4(COL7A1):c.7462C>T (p.Gln2488Ter)
|
rs1553851245
|
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.7738C>T (p.Arg2580Cys)
|
rs762084565
|
0.00002
|
NM_000094.4(COL7A1):c.7882C>T (p.Arg2628Trp)
|
rs376588113
|
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.8038G>A (p.Gly2680Ser)
|
rs370744140
|
0.00002
|
NM_000094.4(COL7A1):c.8065G>A (p.Gly2689Arg)
|
rs748940147
|
0.00002
|
NM_000094.4(COL7A1):c.8187T>G (p.Ser2729Arg)
|
rs528281412
|
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.8323G>A (p.Gly2775Ser)
|
rs1333259313
|
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.1080G>A (p.Trp360Ter)
|
rs375604839
|
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.1213C>G (p.Pro405Ala)
|
rs757132559
|
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.1304G>A (p.Trp435Ter)
|
rs375539799
|
0.00001
|
NM_000094.4(COL7A1):c.1346G>A (p.Arg449Gln)
|
rs764504901
|
0.00001
|
NM_000094.4(COL7A1):c.1357+9G>A
|
rs781260864
|
0.00001
|
NM_000094.4(COL7A1):c.1358-2A>G
|
rs1432916221
|
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.1529C>T (p.Pro510Leu)
|
rs200313202
|
0.00001
|
NM_000094.4(COL7A1):c.1551C>T (p.Thr517=)
|
rs199556963
|
0.00001
|
NM_000094.4(COL7A1):c.1564C>T (p.Gln522Ter)
|
rs770684431
|
0.00001
|
NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter)
|
rs368007918
|
0.00001
|
NM_000094.4(COL7A1):c.1631C>G (p.Thr544Ser)
|
rs763775614
|
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.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.1781-19T>C
|
rs984392717
|
0.00001
|
NM_000094.4(COL7A1):c.1798G>C (p.Ala600Pro)
|
rs200629259
|
0.00001
|
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter)
|
rs759634066
|
0.00001
|
NM_000094.4(COL7A1):c.1841T>C (p.Val614Ala)
|
rs1361271599
|
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.1997C>T (p.Ser666Leu)
|
rs748075413
|
0.00001
|
NM_000094.4(COL7A1):c.1998G>A (p.Ser666=)
|
rs781170835
|
0.00001
|
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)
|
rs780261665
|
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.2125G>T (p.Val709Phe)
|
rs758686564
|
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.2377C>T (p.Arg793Trp)
|
rs778104401
|
0.00001
|
NM_000094.4(COL7A1):c.2378G>A (p.Arg793Gln)
|
rs756289056
|
0.00001
|
NM_000094.4(COL7A1):c.2384C>T (p.Thr795Ile)
|
rs1338660252
|
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.2446C>G (p.Pro816Ala)
|
rs200336324
|
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.2587+40G>A
|
rs1158768165
|
0.00001
|
NM_000094.4(COL7A1):c.2588C>T (p.Pro863Leu)
|
rs968625343
|
0.00001
|
NM_000094.4(COL7A1):c.2601G>A (p.Pro867=)
|
rs372604034
|
0.00001
|
NM_000094.4(COL7A1):c.2633G>A (p.Arg878His)
|
rs775718981
|
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.2709G>A (p.Glu903=)
|
rs2045429277
|
0.00001
|
NM_000094.4(COL7A1):c.2710+8G>C
|
rs1164250441
|
0.00001
|
NM_000094.4(COL7A1):c.2743G>A (p.Glu915Lys)
|
rs747337505
|
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.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.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.3016C>T (p.Leu1006Phe)
|
rs1305255095
|
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.3118G>A (p.Ala1040Thr)
|
rs113041019
|
0.00001
|
NM_000094.4(COL7A1):c.3132G>C (p.Gln1044His)
|
rs1486508439
|
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.313C>T (p.Arg105Cys)
|
rs778085630
|
0.00001
|
NM_000094.4(COL7A1):c.3140-10C>T
|
rs757192859
|
0.00001
|
NM_000094.4(COL7A1):c.3140-1G>A
|
rs886041187
|
0.00001
|
NM_000094.4(COL7A1):c.3140-3C>A
|
rs763870721
|
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.3181G>A (p.Ala1061Thr)
|
rs778942747
|
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.3287T>A (p.Leu1096Gln)
|
rs1474365354
|
0.00001
|
NM_000094.4(COL7A1):c.3301C>T (p.Arg1101Trp)
|
rs777235438
|
0.00001
|
NM_000094.4(COL7A1):c.3369C>T (p.Asp1123=)
|
rs772768581
|
0.00001
|
NM_000094.4(COL7A1):c.3374C>T (p.Pro1125Leu)
|
rs1357938616
|
0.00001
|
NM_000094.4(COL7A1):c.3403+10G>A
|
rs1172719883
|
0.00001
|
NM_000094.4(COL7A1):c.3461G>A (p.Arg1154His)
|
rs201389550
|
0.00001
|
NM_000094.4(COL7A1):c.3468C>T (p.His1156=)
|
rs755299317
|
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.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
|
NM_000094.4(COL7A1):c.3723+19G>A
|
rs758321413
|
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.3744A>G (p.Pro1248=)
|
rs1393537216
|
0.00001
|
NM_000094.4(COL7A1):c.3750T>C (p.Tyr1250=)
|
rs558659528
|
0.00001
|
NM_000094.4(COL7A1):c.3760-5C>T
|
rs1286484364
|
0.00001
|
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=)
|
rs778777140
|
0.00001
|
NM_000094.4(COL7A1):c.377del (p.Val126fs)
|
rs1221546428
|
0.00001
|
NM_000094.4(COL7A1):c.3831+1G>T
|
rs776841521
|
0.00001
|
NM_000094.4(COL7A1):c.3832-7C>A
|
rs780841835
|
0.00001
|
NM_000094.4(COL7A1):c.3850G>A (p.Gly1284Ser)
|
rs764353299
|
0.00001
|
NM_000094.4(COL7A1):c.3867T>C (p.Pro1289=)
|
rs958271674
|
0.00001
|
NM_000094.4(COL7A1):c.3872G>A (p.Ser1291Asn)
|
rs748019757
|
0.00001
|
NM_000094.4(COL7A1):c.3893G>A (p.Arg1298Lys)
|
rs530442803
|
0.00001
|
NM_000094.4(COL7A1):c.3895-8C>A
|
rs1414691434
|
0.00001
|
NM_000094.4(COL7A1):c.3936C>T (p.Arg1312=)
|
rs537152222
|
0.00001
|
NM_000094.4(COL7A1):c.3951G>A (p.Gly1317=)
|
rs758056154
|
0.00001
|
NM_000094.4(COL7A1):c.3954C>T (p.Thr1318=)
|
rs764831575
|
0.00001
|
NM_000094.4(COL7A1):c.3971del (p.Leu1324fs)
|
rs886044621
|
0.00001
|
NM_000094.4(COL7A1):c.3976-10C>T
|
rs745553627
|
0.00001
|
NM_000094.4(COL7A1):c.3976-14G>T
|
rs755293317
|
0.00001
|
NM_000094.4(COL7A1):c.3978C>T (p.Gly1326=)
|
rs756905816
|
0.00001
|
NM_000094.4(COL7A1):c.4011G>A (p.Pro1337=)
|
rs201597369
|
0.00001
|
NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter)
|
rs761234904
|
0.00001
|
NM_000094.4(COL7A1):c.4028G>A (p.Arg1343Gln)
|
rs775734476
|
0.00001
|
NM_000094.4(COL7A1):c.4048-15T>A
|
rs367995901
|
0.00001
|
NM_000094.4(COL7A1):c.4092T>G (p.Pro1364=)
|
rs576167826
|
0.00001
|
NM_000094.4(COL7A1):c.4119+11G>A
|
rs202225012
|
0.00001
|
NM_000094.4(COL7A1):c.4119+9A>G
|
rs766782830
|
0.00001
|
NM_000094.4(COL7A1):c.4162C>T (p.Arg1388Cys)
|
rs565472139
|
0.00001
|
NM_000094.4(COL7A1):c.4170C>T (p.Pro1390=)
|
rs752256370
|
0.00001
|
NM_000094.4(COL7A1):c.4198-19G>A
|
rs377154432
|
0.00001
|
NM_000094.4(COL7A1):c.4198-8T>C
|
rs1486305520
|
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.4230C>T (p.Pro1410=)
|
rs1391811712
|
0.00001
|
NM_000094.4(COL7A1):c.423C>T (p.Pro141=)
|
rs546812570
|
0.00001
|
NM_000094.4(COL7A1):c.4260T>G (p.Pro1420=)
|
rs746034707
|
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.4293C>T (p.Ser1431=)
|
rs1313079443
|
0.00001
|
NM_000094.4(COL7A1):c.4305A>G (p.Gln1435=)
|
rs781606260
|
0.00001
|
NM_000094.4(COL7A1):c.4341+7A>G
|
rs1349743494
|
0.00001
|
NM_000094.4(COL7A1):c.4431C>T (p.Gly1477=)
|
rs2044929597
|
0.00001
|
NM_000094.4(COL7A1):c.4437+7A>G
|
rs779237238
|
0.00001
|
NM_000094.4(COL7A1):c.4437+9C>T
|
rs1256080865
|
0.00001
|
NM_000094.4(COL7A1):c.4449C>T (p.Gly1483=)
|
rs752791209
|
0.00001
|
NM_000094.4(COL7A1):c.4455A>C (p.Pro1485=)
|
rs781780768
|
0.00001
|
NM_000094.4(COL7A1):c.4482+7G>T
|
rs1469985915
|
0.00001
|
NM_000094.4(COL7A1):c.4484G>T (p.Gly1495Val)
|
rs1381334911
|
0.00001
|
NM_000094.4(COL7A1):c.4521G>C (p.Gly1507=)
|
rs747087195
|
0.00001
|
NM_000094.4(COL7A1):c.4563+14T>G
|
rs1355849498
|
0.00001
|
NM_000094.4(COL7A1):c.4602G>A (p.Gly1534=)
|
rs1212169229
|
0.00001
|
NM_000094.4(COL7A1):c.4635+10G>A
|
rs749722600
|
0.00001
|
NM_000094.4(COL7A1):c.465G>C (p.Leu155=)
|
rs754214131
|
0.00001
|
NM_000094.4(COL7A1):c.4668+10G>A
|
rs1282239017
|
0.00001
|
NM_000094.4(COL7A1):c.4669-6C>T
|
rs1261169840
|
0.00001
|
NM_000094.4(COL7A1):c.4683C>T (p.Pro1561=)
|
rs141566570
|
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.474A>C (p.Thr158=)
|
rs1227413097
|
0.00001
|
NM_000094.4(COL7A1):c.4755T>C (p.Pro1585=)
|
rs898497866
|
0.00001
|
NM_000094.4(COL7A1):c.4770C>T (p.Asp1590=)
|
rs2044760978
|
0.00001
|
NM_000094.4(COL7A1):c.4782+3G>A
|
rs373084149
|
0.00001
|
NM_000094.4(COL7A1):c.4783-1G>A
|
rs371908708
|
0.00001
|
NM_000094.4(COL7A1):c.4818+10C>T
|
rs779072673
|
0.00001
|
NM_000094.4(COL7A1):c.4818+18T>A
|
rs368227259
|
0.00001
|
NM_000094.4(COL7A1):c.4819-19C>T
|
rs371699045
|
0.00001
|
NM_000094.4(COL7A1):c.4824C>T (p.Asp1608=)
|
rs749439721
|
0.00001
|
NM_000094.4(COL7A1):c.4858C>T (p.Arg1620Trp)
|
rs781705982
|
0.00001
|
NM_000094.4(COL7A1):c.4878T>C (p.Pro1626=)
|
rs2044739404
|
0.00001
|
NM_000094.4(COL7A1):c.4884C>T (p.Gly1628=)
|
rs533178161
|
0.00001
|
NM_000094.4(COL7A1):c.4888C>T (p.Arg1630Ter)
|
rs121912847
|
0.00001
|
NM_000094.4(COL7A1):c.4894C>T (p.Arg1632Ter)
|
rs751535193
|
0.00001
|
NM_000094.4(COL7A1):c.4899+18G>C
|
rs749458165
|
0.00001
|
NM_000094.4(COL7A1):c.4900-2A>C
|
rs1431252268
|
0.00001
|
NM_000094.4(COL7A1):c.4941C>T (p.Asp1647=)
|
rs750227645
|
0.00001
|
NM_000094.4(COL7A1):c.4981-4T>C
|
rs779655358
|
0.00001
|
NM_000094.4(COL7A1):c.5001G>A (p.Gly1667=)
|
rs990035460
|
0.00001
|
NM_000094.4(COL7A1):c.5005G>A (p.Val1669Met)
|
rs1486869403
|
0.00001
|
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter)
|
rs760063197
|
0.00001
|
NM_000094.4(COL7A1):c.5048_5051dup (p.Asn1684fs)
|
rs1276678432
|
0.00001
|
NM_000094.4(COL7A1):c.5052+1G>A
|
rs766769445
|
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.5108G>A (p.Gly1703Glu)
|
rs770304825
|
0.00001
|
NM_000094.4(COL7A1):c.510A>G (p.Leu170=)
|
rs1227414518
|
0.00001
|
NM_000094.4(COL7A1):c.5124+10G>A
|
rs768891621
|
0.00001
|
NM_000094.4(COL7A1):c.5172C>T (p.Arg1724=)
|
rs775290112
|
0.00001
|
NM_000094.4(COL7A1):c.5173G>A (p.Gly1725Arg)
|
rs772195825
|
0.00001
|
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter)
|
rs746053763
|
0.00001
|
NM_000094.4(COL7A1):c.520+10G>A
|
rs529108629
|
0.00001
|
NM_000094.4(COL7A1):c.520+8C>T
|
rs1267500977
|
0.00001
|
NM_000094.4(COL7A1):c.520G>A (p.Gly174Arg)
|
rs1245411910
|
0.00001
|
NM_000094.4(COL7A1):c.5236-8A>C
|
rs1436334230
|
0.00001
|
NM_000094.4(COL7A1):c.5271+7G>A
|
rs369912272
|
0.00001
|
NM_000094.4(COL7A1):c.5291G>C (p.Gly1764Ala)
|
rs1057520568
|
0.00001
|
NM_000094.4(COL7A1):c.5308-20T>C
|
rs1370729684
|
0.00001
|
NM_000094.4(COL7A1):c.5308-7T>A
|
rs1422173512
|
0.00001
|
NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp)
|
rs1032335328
|
0.00001
|
NM_000094.4(COL7A1):c.5315G>A (p.Arg1772Gln)
|
rs1016459702
|
0.00001
|
NM_000094.4(COL7A1):c.5344G>A (p.Gly1782Arg)
|
rs374718902
|
0.00001
|
NM_000094.4(COL7A1):c.5367C>T (p.Ala1789=)
|
rs769323836
|
0.00001
|
NM_000094.4(COL7A1):c.5382G>A (p.Gly1794=)
|
rs1560227255
|
0.00001
|
NM_000094.4(COL7A1):c.5387A>G (p.Asn1796Ser)
|
rs973076467
|
0.00001
|
NM_000094.4(COL7A1):c.5433A>G (p.Pro1811=)
|
rs909310229
|
0.00001
|
NM_000094.4(COL7A1):c.5439C>T (p.Leu1813=)
|
rs749096679
|
0.00001
|
NM_000094.4(COL7A1):c.5488-8T>C
|
rs371480540
|
0.00001
|
NM_000094.4(COL7A1):c.5532+5G>A
|
rs1210912397
|
0.00001
|
NM_000094.4(COL7A1):c.553C>T (p.Arg185Ter)
|
rs886041186
|
0.00001
|
NM_000094.4(COL7A1):c.5559C>T (p.Asp1853=)
|
rs776433840
|
0.00001
|
NM_000094.4(COL7A1):c.5562G>C (p.Gly1854=)
|
rs1484448603
|
0.00001
|
NM_000094.4(COL7A1):c.5568+10C>T
|
rs1168190146
|
0.00001
|
NM_000094.4(COL7A1):c.5568+8C>T
|
rs543567632
|
0.00001
|
NM_000094.4(COL7A1):c.556G>T (p.Val186Phe)
|
rs2045838430
|
0.00001
|
NM_000094.4(COL7A1):c.5616C>A (p.Gly1872=)
|
rs1388017056
|
0.00001
|
NM_000094.4(COL7A1):c.565C>T (p.Gln189Ter)
|
rs1486141784
|
0.00001
|
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=)
|
rs371009419
|
0.00001
|
NM_000094.4(COL7A1):c.5691T>G (p.Pro1897=)
|
rs911812754
|
0.00001
|
NM_000094.4(COL7A1):c.5701G>A (p.Gly1901Ser)
|
rs762189891
|
0.00001
|
NM_000094.4(COL7A1):c.5715C>A (p.Val1905=)
|
rs984384543
|
0.00001
|
NM_000094.4(COL7A1):c.5727G>A (p.Thr1909=)
|
rs534242549
|
0.00001
|
NM_000094.4(COL7A1):c.573C>G (p.Thr191=)
|
rs776540069
|
0.00001
|
NM_000094.4(COL7A1):c.5764_5767del (p.Gly1922fs)
|
rs747769277
|
0.00001
|
NM_000094.4(COL7A1):c.5796G>T (p.Leu1932=)
|
rs745674493
|
0.00001
|
NM_000094.4(COL7A1):c.5797C>A (p.Arg1933=)
|
rs757415879
|
0.00001
|
NM_000094.4(COL7A1):c.5821-5C>T
|
rs1336718522
|
0.00001
|
NM_000094.4(COL7A1):c.5869C>T (p.Arg1957Trp)
|
rs747081862
|
0.00001
|
NM_000094.4(COL7A1):c.5911C>T (p.Leu1971=)
|
rs1427913494
|
0.00001
|
NM_000094.4(COL7A1):c.591C>T (p.Phe197=)
|
rs775708194
|
0.00001
|
NM_000094.4(COL7A1):c.5922C>T (p.Pro1974=)
|
rs766316585
|
0.00001
|
NM_000094.4(COL7A1):c.5933G>A (p.Arg1978Gln)
|
rs754315799
|
0.00001
|
NM_000094.4(COL7A1):c.5979+17C>T
|
rs754566583
|
0.00001
|
NM_000094.4(COL7A1):c.5979+4A>T
|
rs749607047
|
0.00001
|
NM_000094.4(COL7A1):c.597T>C (p.Asn199=)
|
rs759813336
|
0.00001
|
NM_000094.4(COL7A1):c.5980-7C>T
|
rs1575440125
|
0.00001
|
NM_000094.4(COL7A1):c.5985C>T (p.Pro1995=)
|
rs1270992688
|
0.00001
|
NM_000094.4(COL7A1):c.6041A>C (p.Gln2014Pro)
|
rs755954867
|
0.00001
|
NM_000094.4(COL7A1):c.6054T>G (p.Gly2018=)
|
rs537763577
|
0.00001
|
NM_000094.4(COL7A1):c.6057G>C (p.Leu2019=)
|
rs759689346
|
0.00001
|
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=)
|
rs763329165
|
0.00001
|
NM_000094.4(COL7A1):c.6102G>A (p.Gly2034=)
|
rs1168914104
|
0.00001
|
NM_000094.4(COL7A1):c.6120T>C (p.Gly2040=)
|
rs1262501306
|
0.00001
|
NM_000094.4(COL7A1):c.6126C>T (p.Pro2042=)
|
rs777837431
|
0.00001
|
NM_000094.4(COL7A1):c.6187C>T (p.Arg2063Trp)
|
rs121912849
|
0.00001
|
NM_000094.4(COL7A1):c.618A>G (p.Thr206=)
|
rs771119509
|
0.00001
|
NM_000094.4(COL7A1):c.6190G>A (p.Gly2064Arg)
|
rs866061439
|
0.00001
|
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu)
|
rs377112899
|
0.00001
|
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)
|
rs121912855
|
0.00001
|
NM_000094.4(COL7A1):c.6207T>C (p.Arg2069=)
|
rs1180409299
|
0.00001
|
NM_000094.4(COL7A1):c.6262G>A (p.Gly2088Arg)
|
rs573432153
|
0.00001
|
NM_000094.4(COL7A1):c.6280-15A>C
|
rs775270402
|
0.00001
|
NM_000094.4(COL7A1):c.6280-20C>G
|
rs1406073635
|
0.00001
|
NM_000094.4(COL7A1):c.6280-8G>A
|
rs1343979395
|
0.00001
|
NM_000094.4(COL7A1):c.631G>A (p.Val211Ile)
|
rs557797952
|
0.00001
|
NM_000094.4(COL7A1):c.6348+7G>A
|
rs778731762
|
0.00001
|
NM_000094.4(COL7A1):c.636C>T (p.Ser212=)
|
rs915394336
|
0.00001
|
NM_000094.4(COL7A1):c.6390C>T (p.Asp2130=)
|
rs1439929360
|
0.00001
|
NM_000094.4(COL7A1):c.6395G>A (p.Gly2132Asp)
|
rs755669902
|
0.00001
|
NM_000094.4(COL7A1):c.6418C>T (p.Arg2140Trp)
|
rs766298049
|
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.6457-18T>C
|
rs1460007505
|
0.00001
|
NM_000094.4(COL7A1):c.6457-6C>T
|
rs768239091
|
0.00001
|
NM_000094.4(COL7A1):c.6462A>G (p.Leu2154=)
|
rs541910186
|
0.00001
|
NM_000094.4(COL7A1):c.6465A>G (p.Pro2155=)
|
rs1266041812
|
0.00001
|
NM_000094.4(COL7A1):c.6501+10G>A
|
rs1438945338
|
0.00001
|
NM_000094.4(COL7A1):c.6501+8G>T
|
rs201392891
|
0.00001
|
NM_000094.4(COL7A1):c.6502-4G>A
|
rs749283784
|
0.00001
|
NM_000094.4(COL7A1):c.651G>A (p.Thr217=)
|
rs1464152121
|
0.00001
|
NM_000094.4(COL7A1):c.6522C>A (p.Gly2174=)
|
rs781281946
|
0.00001
|
NM_000094.4(COL7A1):c.6526C>T (p.Pro2176Ser)
|
rs755178152
|
0.00001
|
NM_000094.4(COL7A1):c.6528del (p.Gly2177fs)
|
rs1477977704
|
0.00001
|
NM_000094.4(COL7A1):c.6537+7A>T
|
rs1229703054
|
0.00001
|
NM_000094.4(COL7A1):c.6546T>C (p.His2182=)
|
rs1459217638
|
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.6574-4C>G
|
rs765119803
|
0.00001
|
NM_000094.4(COL7A1):c.6619-9T>C
|
rs774418743
|
0.00001
|
NM_000094.4(COL7A1):c.6642T>A (p.Pro2214=)
|
rs992112872
|
0.00001
|
NM_000094.4(COL7A1):c.6649C>T (p.Arg2217Trp)
|
rs546653276
|
0.00001
|
NM_000094.4(COL7A1):c.6651+13G>A
|
rs778362922
|
0.00001
|
NM_000094.4(COL7A1):c.6699C>T (p.Gly2233=)
|
rs1264885153
|
0.00001
|
NM_000094.4(COL7A1):c.6714+11C>T
|
rs2044052522
|
0.00001
|
NM_000094.4(COL7A1):c.6714+19C>T
|
rs748715122
|
0.00001
|
NM_000094.4(COL7A1):c.6715-6C>T
|
rs200826657
|
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.6781C>T (p.Arg2261Ter)
|
rs772381373
|
0.00001
|
NM_000094.4(COL7A1):c.6788G>A (p.Gly2263Asp)
|
rs1405839597
|
0.00001
|
NM_000094.4(COL7A1):c.6808G>C (p.Asp2270His)
|
rs747689845
|
0.00001
|
NM_000094.4(COL7A1):c.680C>G (p.Pro227Arg)
|
rs1450480489
|
0.00001
|
NM_000094.4(COL7A1):c.682+19G>A
|
rs1012819337
|
0.00001
|
NM_000094.4(COL7A1):c.683-10G>T
|
rs375977644
|
0.00001
|
NM_000094.4(COL7A1):c.683-1G>A
|
rs2045812473
|
0.00001
|
NM_000094.4(COL7A1):c.683-9C>T
|
rs1187631387
|
0.00001
|
NM_000094.4(COL7A1):c.6832-16C>T
|
rs768117981
|
0.00001
|
NM_000094.4(COL7A1):c.6832-4A>G
|
rs1369581021
|
0.00001
|
NM_000094.4(COL7A1):c.6832-6C>T
|
rs558087041
|
0.00001
|
NM_000094.4(COL7A1):c.6834G>T (p.Gly2278=)
|
rs936962423
|
0.00001
|
NM_000094.4(COL7A1):c.6861A>T (p.Gly2287=)
|
rs1315644130
|
0.00001
|
NM_000094.4(COL7A1):c.6879C>T (p.Gly2293=)
|
rs989603519
|
0.00001
|
NM_000094.4(COL7A1):c.6884C>T (p.Thr2295Met)
|
rs757102252
|
0.00001
|
NM_000094.4(COL7A1):c.6901-11A>G
|
rs1028123187
|
0.00001
|
NM_000094.4(COL7A1):c.6901-4A>G
|
rs1180155465
|
0.00001
|
NM_000094.4(COL7A1):c.6909C>T (p.Val2303=)
|
rs1186603415
|
0.00001
|
NM_000094.4(COL7A1):c.6910G>A (p.Gly2304Arg)
|
rs1461460130
|
0.00001
|
NM_000094.4(COL7A1):c.6936+9G>C
|
rs2043997550
|
0.00001
|
NM_000094.4(COL7A1):c.6937-17C>T
|
rs373105841
|
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.6972T>C (p.Gly2324=)
|
rs767218959
|
0.00001
|
NM_000094.4(COL7A1):c.6977C>A (p.Pro2326Gln)
|
rs763000800
|
0.00001
|
NM_000094.4(COL7A1):c.6984C>T (p.Ala2328=)
|
rs766048945
|
0.00001
|
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter)
|
rs765027608
|
0.00001
|
NM_000094.4(COL7A1):c.7024-9T>C
|
rs767581948
|
0.00001
|
NM_000094.4(COL7A1):c.7051G>A (p.Gly2351Arg)
|
rs1800013
|
0.00001
|
NM_000094.4(COL7A1):c.7060G>C (p.Gly2354Arg)
|
rs748466015
|
0.00001
|
NM_000094.4(COL7A1):c.7068+8C>T
|
rs371740479
|
0.00001
|
NM_000094.4(COL7A1):c.7068+9G>A
|
rs778344378
|
0.00001
|
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter)
|
rs121912854
|
0.00001
|
NM_000094.4(COL7A1):c.7078G>A (p.Gly2360Arg)
|
rs916512411
|
0.00001
|
NM_000094.4(COL7A1):c.7101C>T (p.Phe2367=)
|
rs1177894057
|
0.00001
|
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu)
|
rs1233025207
|
0.00001
|
NM_000094.4(COL7A1):c.7119C>T (p.Val2373=)
|
rs775960525
|
0.00001
|
NM_000094.4(COL7A1):c.7122G>A (p.Gly2374=)
|
rs762650045
|
0.00001
|
NM_000094.4(COL7A1):c.7125C>T (p.Val2375=)
|
rs769300577
|
0.00001
|
NM_000094.4(COL7A1):c.712C>T (p.Leu238=)
|
rs770219119
|
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.720G>A (p.Leu240=)
|
rs181486713
|
0.00001
|
NM_000094.4(COL7A1):c.7231C>T (p.Pro2411Ser)
|
rs749588145
|
0.00001
|
NM_000094.4(COL7A1):c.7234C>T (p.Arg2412Ter)
|
rs1342522878
|
0.00001
|
NM_000094.4(COL7A1):c.7254A>G (p.Pro2418=)
|
rs75693856
|
0.00001
|
NM_000094.4(COL7A1):c.7275T>A (p.Gly2425=)
|
rs1427370456
|
0.00001
|
NM_000094.4(COL7A1):c.7332A>G (p.Pro2444=)
|
rs1425753232
|
0.00001
|
NM_000094.4(COL7A1):c.7338G>T (p.Gly2446=)
|
rs752380571
|
0.00001
|
NM_000094.4(COL7A1):c.7380+2T>C
|
rs1249145909
|
0.00001
|
NM_000094.4(COL7A1):c.7381-5T>C
|
rs1489698970
|
0.00001
|
NM_000094.4(COL7A1):c.7391G>A (p.Gly2464Glu)
|
rs1176292922
|
0.00001
|
NM_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter)
|
rs121912852
|
0.00001
|
NM_000094.4(COL7A1):c.7421G>A (p.Arg2474His)
|
rs988796477
|
0.00001
|
NM_000094.4(COL7A1):c.7425G>A (p.Gly2475=)
|
rs267599856
|
0.00001
|
NM_000094.4(COL7A1):c.7452C>A (p.Gly2484=)
|
rs758433395
|
0.00001
|
NM_000094.4(COL7A1):c.7484C>T (p.Thr2495Met)
|
rs771717980
|
0.00001
|
NM_000094.4(COL7A1):c.7485+5G>A
|
rs988031901
|
0.00001
|
NM_000094.4(COL7A1):c.7485+7C>G
|
rs1351722964
|
0.00001
|
NM_000094.4(COL7A1):c.7485+9C>T
|
rs745495385
|
0.00001
|
NM_000094.4(COL7A1):c.7486-9C>T
|
rs764349416
|
0.00001
|
NM_000094.4(COL7A1):c.752A>G (p.Gln251Arg)
|
rs1227103410
|
0.00001
|
NM_000094.4(COL7A1):c.7566A>G (p.Ser2522=)
|
rs753671743
|
0.00001
|
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.7615-2A>T
|
rs986004460
|
0.00001
|
NM_000094.4(COL7A1):c.7695G>A (p.Lys2565=)
|
rs758221970
|
0.00001
|
NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg)
|
rs760891216
|
0.00001
|
NM_000094.4(COL7A1):c.7763A>C (p.Gln2588Pro)
|
rs1233028552
|
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.7828C>T (p.Arg2610Ter)
|
rs1064793916
|
0.00001
|
NM_000094.4(COL7A1):c.7865G>A (p.Arg2622Gln)
|
rs368529673
|
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.7957G>A (p.Gly2653Arg)
|
rs121912851
|
0.00001
|
NM_000094.4(COL7A1):c.7980G>A (p.Glu2660=)
|
rs1462554987
|
0.00001
|
NM_000094.4(COL7A1):c.7981A>T (p.Met2661Leu)
|
rs1356408238
|
0.00001
|
NM_000094.4(COL7A1):c.8001G>A (p.Pro2667=)
|
rs760633957
|
0.00001
|
NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter)
|
rs2043645754
|
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.8107C>T (p.Arg2703Trp)
|
rs759039839
|
0.00001
|
NM_000094.4(COL7A1):c.8109+1G>A
|
rs1050797523
|
0.00001
|
NM_000094.4(COL7A1):c.8110-12A>G
|
rs779889882
|
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.8221_8226+1del
|
rs753705135
|
0.00001
|
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln)
|
rs377182638
|
0.00001
|
NM_000094.4(COL7A1):c.8245G>A (p.Gly2749Arg)
|
rs121912853
|
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.8393T>A (p.Met2798Lys)
|
rs121912828
|
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.8408-6C>A
|
rs749730480
|
0.00001
|
NM_000094.4(COL7A1):c.8408-7C>G
|
rs771444964
|
0.00001
|
NM_000094.4(COL7A1):c.8440+1G>A
|
rs1001774733
|
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.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.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.8635C>T (p.Pro2879Ser)
|
rs771286848
|
0.00001
|
NM_000094.4(COL7A1):c.8654G>A (p.Cys2885Tyr)
|
rs749519562
|
0.00001
|
NM_000094.4(COL7A1):c.8668C>T (p.Leu2890=)
|
rs938541239
|
0.00001
|
NM_000094.4(COL7A1):c.8676G>T (p.Trp2892Cys)
|
rs755464659
|
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.8824G>T (p.Ala2942Ser)
|
rs1441002372
|
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.963G>T (p.Gly321=)
|
rs745686522
|
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.98G>A (p.Arg33His)
|
rs767387822
|
0.00001
|
NM_000094.4(COL7A1):c.993G>A (p.Pro331=)
|
rs200086083
|
0.00001
|
NC_000003.11:g.(?_48601829)_(48632780_?)del
|
|
|
NC_000003.11:g.(?_48602206)_(48617500_?)del
|
|
|
NC_000003.11:g.(?_48613682)_(48613729_?)dup
|
|
|
NC_000003.12:g.48566738del
|
|
|
NC_000003.12:g.48568171dup
|
|
|
NC_000003.12:g.48579405del
|
rs2107698224
|
|
NC_000003.12:g.48582359dup
|
|
|
NC_000003.12:g.48585619_48585620del
|
rs2107742434
|
|
NM_000094.4(COL7A1):c.1008G>A (p.Gln336=)
|
rs2107793332
|
|
NM_000094.4(COL7A1):c.1010A>G (p.Asn337Ser)
|
rs374780340
|
|
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.1033G>C (p.Val345Leu)
|
|
|
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.1045_1046del (p.Ser349fs)
|
rs2107793116
|
|
NM_000094.4(COL7A1):c.1047T>C (p.Ser349=)
|
rs2107793088
|
|
NM_000094.4(COL7A1):c.1048G>A (p.Val350Met)
|
|
|
NM_000094.4(COL7A1):c.1053A>T (p.Pro351=)
|
|
|
NM_000094.4(COL7A1):c.1059C>T (p.Ala353=)
|
|
|
NM_000094.4(COL7A1):c.105C>A (p.Tyr35Ter)
|
rs751325519
|
|
NM_000094.4(COL7A1):c.105C>T (p.Tyr35=)
|
rs751325519
|
|
NM_000094.4(COL7A1):c.1079G>A (p.Trp360Ter)
|
rs2045767651
|
|
NM_000094.4(COL7A1):c.1081C>A (p.Arg361=)
|
|
|
NM_000094.4(COL7A1):c.1081C>T (p.Arg361Trp)
|
rs776805869
|
|
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+1G>A
|
rs1307626649
|
|
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.1094-7_1101del
|
|
|
NM_000094.4(COL7A1):c.1107G>A (p.Gln369=)
|
rs1197273468
|
|
NM_000094.4(COL7A1):c.1111C>G (p.Gln371Glu)
|
rs2107791926
|
|
NM_000094.4(COL7A1):c.1112_1118dup (p.Pro375fs)
|
|
|
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.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.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.1153T>G (p.Leu385Val)
|
|
|
NM_000094.4(COL7A1):c.1158G>A (p.Glu386=)
|
rs972788383
|
|
NM_000094.4(COL7A1):c.115_121dup (p.Phe41fs)
|
|
|
NM_000094.4(COL7A1):c.1166C>T (p.Thr389Met)
|
|
|
NM_000094.4(COL7A1):c.1172_1173del (p.Asp390_Tyr391insTer)
|
|
|
NM_000094.4(COL7A1):c.1176G>A (p.Glu392=)
|
rs1362408873
|
|
NM_000094.4(COL7A1):c.1181C>T (p.Thr394Ile)
|
|
|
NM_000094.4(COL7A1):c.1183G>A (p.Val395Met)
|
|
|
NM_000094.4(COL7A1):c.1187G>A (p.Ser396Asn)
|
|
|
NM_000094.4(COL7A1):c.1191C>A (p.Thr397=)
|
|
|
NM_000094.4(COL7A1):c.1191C>T (p.Thr397=)
|
rs143270071
|
|
NM_000094.4(COL7A1):c.1198G>C (p.Gly400Arg)
|
|
|
NM_000094.4(COL7A1):c.1199G>T (p.Gly400Val)
|
|
|
NM_000094.4(COL7A1):c.1201C>T (p.Arg401Cys)
|
|
|
NM_000094.4(COL7A1):c.1206T>C (p.Ser402=)
|
|
|
NM_000094.4(COL7A1):c.1207G>T (p.Val403Leu)
|
|
|
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.1216G>A (p.Ala406Thr)
|
|
|
NM_000094.4(COL7A1):c.1219A>C (p.Thr407Pro)
|
|
|
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.1228A>G (p.Met410Val)
|
|
|
NM_000094.4(COL7A1):c.122T>A (p.Phe41Tyr)
|
|
|
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+1G>T
|
rs2107790996
|
|
NM_000094.4(COL7A1):c.1240+2T>A
|
|
|
NM_000094.4(COL7A1):c.1240+9G>T
|
|
|
NM_000094.4(COL7A1):c.1241-12T>G
|
|
|
NM_000094.4(COL7A1):c.1241-14T>C
|
|
|
NM_000094.4(COL7A1):c.1241-17C>T
|
|
|
NM_000094.4(COL7A1):c.1241-3C>A
|
|
|
NM_000094.4(COL7A1):c.1241-5G>A
|
|
|
NM_000094.4(COL7A1):c.1241-7T>C
|
rs2107790458
|
|
NM_000094.4(COL7A1):c.1241-7T>G
|
|
|
NM_000094.4(COL7A1):c.1244C>T (p.Ala415Val)
|
rs2107790367
|
|
NM_000094.4(COL7A1):c.1251T>G (p.Val417=)
|
rs2107790345
|
|
NM_000094.4(COL7A1):c.1260C>A (p.Thr420=)
|
|
|
NM_000094.4(COL7A1):c.1265G>A (p.Arg422His)
|
|
|
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.1286C>T (p.Thr429Ile)
|
|
|
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.1328G>A (p.Gly443Asp)
|
|
|
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+2T>A
|
|
|
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.1363G>T (p.Glu455Ter)
|
|
|
NM_000094.4(COL7A1):c.1378G>A (p.Val460Met)
|
|
|
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.1391C>T (p.Ser464Phe)
|
|
|
NM_000094.4(COL7A1):c.139del (p.Ser47fs)
|
|
|
NM_000094.4(COL7A1):c.1401C>T (p.Thr467=)
|
rs2107788868
|
|
NM_000094.4(COL7A1):c.1423C>T (p.Gln475Ter)
|
rs1482450152
|
|
NM_000094.4(COL7A1):c.1427C>T (p.Pro476Leu)
|
|
|
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.143C>T (p.Ser48Phe)
|
|
|
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.1453T>C (p.Tyr485His)
|
|
|
NM_000094.4(COL7A1):c.1460T>G (p.Leu487Arg)
|
|
|
NM_000094.4(COL7A1):c.1461G>A (p.Leu487=)
|
|
|
NM_000094.4(COL7A1):c.1464G>C (p.Leu488=)
|
|
|
NM_000094.4(COL7A1):c.1469G>A (p.Gly490Asp)
|
|
|
NM_000094.4(COL7A1):c.146T>C (p.Ile49Thr)
|
|
|
NM_000094.4(COL7A1):c.1474G>A (p.Glu492Lys)
|
|
|
NM_000094.4(COL7A1):c.1474_1505del (p.Glu492fs)
|
rs2107788141
|
|
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.14T>C (p.Leu5Pro)
|
|
|
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+1G>A
|
|
|
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.1508-3C>T
|
|
|
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.1513dup (p.Glu505fs)
|
|
|
NM_000094.4(COL7A1):c.1514A>G (p.Glu505Gly)
|
|
|
NM_000094.4(COL7A1):c.1518G>A (p.Leu506=)
|
rs764816904
|
|
NM_000094.4(COL7A1):c.151C>G (p.Arg51Gly)
|
|
|
NM_000094.4(COL7A1):c.1528C>T (p.Pro510Ser)
|
|
|
NM_000094.4(COL7A1):c.1537G>C (p.Asp513His)
|
rs2045701662
|
|
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.1561G>C (p.Gly521Arg)
|
|
|
NM_000094.4(COL7A1):c.1562G>A (p.Gly521Glu)
|
|
|
NM_000094.4(COL7A1):c.1567C>T (p.Arg523Trp)
|
|
|
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.1589del (p.Pro530fs)
|
rs2045697078
|
|
NM_000094.4(COL7A1):c.1590A>G (p.Pro530=)
|
|
|
NM_000094.4(COL7A1):c.1592T>G (p.Val531Gly)
|
|
|
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.1606C>T (p.Gln536Ter)
|
|
|
NM_000094.4(COL7A1):c.1608G>C (p.Gln536His)
|
rs2107786870
|
|
NM_000094.4(COL7A1):c.1612C>T (p.Arg538Cys)
|
|
|
NM_000094.4(COL7A1):c.1614C>T (p.Arg538=)
|
|
|
NM_000094.4(COL7A1):c.1615A>T (p.Ile539Phe)
|
rs1303497009
|
|
NM_000094.4(COL7A1):c.1620del (p.Ile540fs)
|
|
|
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.1637-1G>A
|
rs886058642
|
|
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.163C>T (p.Arg55Cys)
|
|
|
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.1672_1675del (p.Thr558fs)
|
|
|
NM_000094.4(COL7A1):c.1673C>A (p.Thr558Lys)
|
|
|
NM_000094.4(COL7A1):c.1673C>G (p.Thr558Arg)
|
|
|
NM_000094.4(COL7A1):c.1681G>A (p.Asp561Asn)
|
rs1320589494
|
|
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.1735dup (p.Val579fs)
|
|
|
NM_000094.4(COL7A1):c.1738G>A (p.Gly580Ser)
|
|
|
NM_000094.4(COL7A1):c.1741C>T (p.Pro581Ser)
|
|
|
NM_000094.4(COL7A1):c.1744C>T (p.Arg582Cys)
|
|
|
NM_000094.4(COL7A1):c.1744del (p.Arg582fs)
|
|
|
NM_000094.4(COL7A1):c.1745G>A (p.Arg582His)
|
|
|
NM_000094.4(COL7A1):c.1749G>A (p.Glu583=)
|
|
|
NM_000094.4(COL7A1):c.1751G>A (p.Gly584Asp)
|
|
|
NM_000094.4(COL7A1):c.1754G>A (p.Ser585Asn)
|
|
|
NM_000094.4(COL7A1):c.1754G>C (p.Ser585Thr)
|
|
|
NM_000094.4(COL7A1):c.175A>G (p.Ser59Gly)
|
|
|
NM_000094.4(COL7A1):c.1775G>A (p.Arg592His)
|
|
|
NM_000094.4(COL7A1):c.1776C>T (p.Arg592=)
|
|
|
NM_000094.4(COL7A1):c.1778G>A (p.Arg593Gln)
|
|
|
NM_000094.4(COL7A1):c.1780+14G>A
|
|
|
NM_000094.4(COL7A1):c.1780+1G>T
|
|
|
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.1781-18_1781-12dup
|
rs2045623928
|
|
NM_000094.4(COL7A1):c.1781-20C>G
|
|
|
NM_000094.4(COL7A1):c.1781-21_1781-15del
|
|
|
NM_000094.4(COL7A1):c.1781-28ACTTCTG[3]
|
|
|
NM_000094.4(COL7A1):c.1781-2A>G
|
rs2045623626
|
|
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.1790C>T (p.Thr597Ile)
|
|
|
NM_000094.4(COL7A1):c.1791T>C (p.Thr597=)
|
rs2107781093
|
|
NM_000094.4(COL7A1):c.17T>C (p.Leu6Pro)
|
|
|
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.1814G>A (p.Arg605Gln)
|
|
|
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.1834A>G (p.Thr612Ala)
|
|
|
NM_000094.4(COL7A1):c.1835C>T (p.Thr612Met)
|
|
|
NM_000094.4(COL7A1):c.1836G>A (p.Thr612=)
|
rs151186709
|
|
NM_000094.4(COL7A1):c.183C>T (p.Leu61=)
|
|
|
NM_000094.4(COL7A1):c.1844G>C (p.Arg615Thr)
|
|
|
NM_000094.4(COL7A1):c.1845G>A (p.Arg615=)
|
|
|
NM_000094.4(COL7A1):c.1848G>A (p.Val616=)
|
rs2107780569
|
|
NM_000094.4(COL7A1):c.184G>T (p.Glu62Ter)
|
|
|
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.1877G>T (p.Gly626Val)
|
|
|
NM_000094.4(COL7A1):c.1882C>T (p.Arg628Trp)
|
|
|
NM_000094.4(COL7A1):c.1883G>A (p.Arg628Gln)
|
|
|
NM_000094.4(COL7A1):c.1889G>C (p.Ser630Thr)
|
|
|
NM_000094.4(COL7A1):c.1891T>G (p.Trp631Gly)
|
rs1257001197
|
|
NM_000094.4(COL7A1):c.1895G>A (p.Ser632Asn)
|
|
|
NM_000094.4(COL7A1):c.1898_1903del (p.Thr633_Gly634del)
|
|
|
NM_000094.4(COL7A1):c.189del (p.Leu64fs)
|
rs1381975764
|
|
NM_000094.4(COL7A1):c.18G>T (p.Leu6=)
|
rs1445600478
|
|
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+19G>A
|
|
|
NM_000094.4(COL7A1):c.1906+1G>T
|
|
|
NM_000094.4(COL7A1):c.1906+3del
|
|
|
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.1907-2A>G
|
|
|
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.1921C>T (p.Gln641Ter)
|
|
|
NM_000094.4(COL7A1):c.1926A>G (p.Thr642=)
|
rs1575485634
|
|
NM_000094.4(COL7A1):c.1930C>T (p.Pro644Ser)
|
rs1384386683
|
|
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.1934C>T (p.Pro645Leu)
|
|
|
NM_000094.4(COL7A1):c.1937A>T (p.Asp646Val)
|
|
|
NM_000094.4(COL7A1):c.1938C>T (p.Asp646=)
|
|
|
NM_000094.4(COL7A1):c.1943C>T (p.Thr648Ile)
|
rs2107778887
|
|
NM_000094.4(COL7A1):c.1946C>T (p.Ala649Val)
|
|
|
NM_000094.4(COL7A1):c.1953_1954dup (p.Ile652fs)
|
rs2045600633
|
|
NM_000094.4(COL7A1):c.1954A>T (p.Ile652Phe)
|
rs754253382
|
|
NM_000094.4(COL7A1):c.1959A>G (p.Thr653=)
|
rs1383696679
|
|
NM_000094.4(COL7A1):c.1962G>T (p.Gly654=)
|
|
|
NM_000094.4(COL7A1):c.196C>T (p.Leu66=)
|
rs2107806845
|
|
NM_000094.4(COL7A1):c.197T>C (p.Leu66Pro)
|
|
|
NM_000094.4(COL7A1):c.1980C>T (p.Thr660=)
|
rs1299894450
|
|
NM_000094.4(COL7A1):c.1984C>T (p.Gln662Ter)
|
|
|
NM_000094.4(COL7A1):c.1992T>A (p.Ala664=)
|
|
|
NM_000094.4(COL7A1):c.2005C>G (p.Arg669Gly)
|
|
|
NM_000094.4(COL7A1):c.2006G>A (p.Arg669Gln)
|
|
|
NM_000094.4(COL7A1):c.2006G>C (p.Arg669Pro)
|
|
|
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.2044C>T (p.Arg682Ter)
|
rs1262422383
|
|
NM_000094.4(COL7A1):c.2046A>C (p.Arg682=)
|
|
|
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+11G>C
|
|
|
NM_000094.4(COL7A1):c.2050+12C>T
|
|
|
NM_000094.4(COL7A1):c.2050+16del
|
|
|
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+3C>T
|
|
|
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.2087A>G (p.Gln696Arg)
|
rs2107774731
|
|
NM_000094.4(COL7A1):c.2091del (p.Ser698fs)
|
|
|
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.2110A>G (p.Ile704Val)
|
|
|
NM_000094.4(COL7A1):c.2111T>C (p.Ile704Thr)
|
|
|
NM_000094.4(COL7A1):c.2116T>G (p.Trp706Gly)
|
|
|
NM_000094.4(COL7A1):c.2117G>A (p.Trp706Ter)
|
|
|
NM_000094.4(COL7A1):c.2125G>A (p.Val709Ile)
|
|
|
NM_000094.4(COL7A1):c.2126T>C (p.Val709Ala)
|
|
|
NM_000094.4(COL7A1):c.2133C>A (p.Gly711=)
|
rs934402491
|
|
NM_000094.4(COL7A1):c.2134G>A (p.Ala712Thr)
|
|
|
NM_000094.4(COL7A1):c.2147G>T (p.Arg716Met)
|
|
|
NM_000094.4(COL7A1):c.214G>C (p.Ala72Pro)
|
|
|
NM_000094.4(COL7A1):c.2160C>T (p.His720=)
|
rs2107774233
|
|
NM_000094.4(COL7A1):c.2162C>G (p.Ser721Ter)
|
|
|
NM_000094.4(COL7A1):c.2162C>T (p.Ser721Leu)
|
|
|
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+3G>A
|
|
|
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.2171-2A>G
|
rs1158674229
|
|
NM_000094.4(COL7A1):c.2171-2A>T
|
|
|
NM_000094.4(COL7A1):c.2171-3C>T
|
|
|
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.2195C>T (p.Ser732Phe)
|
|
|
NM_000094.4(COL7A1):c.2196T>C (p.Ser732=)
|
|
|
NM_000094.4(COL7A1):c.2200G>T (p.Glu734Ter)
|
|
|
NM_000094.4(COL7A1):c.2208G>C (p.Thr736=)
|
|
|
NM_000094.4(COL7A1):c.2208G>T (p.Thr736=)
|
|
|
NM_000094.4(COL7A1):c.220G>A (p.Ala74Thr)
|
|
|
NM_000094.4(COL7A1):c.2214T>C (p.Ala738=)
|
|
|
NM_000094.4(COL7A1):c.2217G>A (p.Glu739=)
|
|
|
NM_000094.4(COL7A1):c.221C>T (p.Ala74Val)
|
|
|
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.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.2280G>C (p.Val760=)
|
|
|
NM_000094.4(COL7A1):c.2282A>T (p.Asp761Val)
|
|
|
NM_000094.4(COL7A1):c.2286G>A (p.Gly762=)
|
|
|
NM_000094.4(COL7A1):c.2289C>T (p.Pro763=)
|
|
|
NM_000094.4(COL7A1):c.2290C>T (p.Pro764Ser)
|
|
|
NM_000094.4(COL7A1):c.2291C>T (p.Pro764Leu)
|
|
|
NM_000094.4(COL7A1):c.2293G>T (p.Ala765Ser)
|
|
|
NM_000094.4(COL7A1):c.2294C>A (p.Ala765Asp)
|
|
|
NM_000094.4(COL7A1):c.2295C>T (p.Ala765=)
|
rs2107772082
|
|
NM_000094.4(COL7A1):c.2300T>C (p.Val767Ala)
|
|
|
NM_000094.4(COL7A1):c.2302G>A (p.Val768Ile)
|
|
|
NM_000094.4(COL7A1):c.2305_2314delinsTT (p.Val769fs)
|
rs2045526309
|
|
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.2315-11_2316del
|
|
|
NM_000094.4(COL7A1):c.2315-15T>C
|
|
|
NM_000094.4(COL7A1):c.2315-17C>G
|
|
|
NM_000094.4(COL7A1):c.2315C>G (p.Ala772Gly)
|
|
|
NM_000094.4(COL7A1):c.2318_2321dup (p.Glu774delinsAspTer)
|
rs1064797079
|
|
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.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.2339C>T (p.Ser780Leu)
|
|
|
NM_000094.4(COL7A1):c.2346G>A (p.Leu782=)
|
rs2045495669
|
|
NM_000094.4(COL7A1):c.2347C>T (p.Gln783Ter)
|
|
|
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.2359G>C (p.Ala787Pro)
|
rs2107769039
|
|
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.2368G>A (p.Asp790Asn)
|
|
|
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.2388G>A (p.Trp796Ter)
|
|
|
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.2415C>G (p.Tyr805Ter)
|
|
|
NM_000094.4(COL7A1):c.2424C>T (p.Ala808=)
|
|
|
NM_000094.4(COL7A1):c.2432G>A (p.Arg811Gln)
|
|
|
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+1G>A
|
|
|
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.2443G>A (p.Gly815Ser)
|
|
|
NM_000094.4(COL7A1):c.2448C>T (p.Pro816=)
|
|
|
NM_000094.4(COL7A1):c.2451G>A (p.Met817Ile)
|
|
|
NM_000094.4(COL7A1):c.2453G>C (p.Arg818Thr)
|
|
|
NM_000094.4(COL7A1):c.2457C>T (p.His819=)
|
|
|
NM_000094.4(COL7A1):c.2461A>G (p.Ile821Val)
|
|
|
NM_000094.4(COL7A1):c.2463dup (p.Leu822fs)
|
rs2045478123
|
|
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.2471dup (p.Asn825fs)
|
rs746056280
|
|
NM_000094.4(COL7A1):c.2474del (p.Asn825fs)
|
|
|
NM_000094.4(COL7A1):c.2477C>T (p.Thr826Ile)
|
|
|
NM_000094.4(COL7A1):c.247C>T (p.Gln83Ter)
|
|
|
NM_000094.4(COL7A1):c.2484T>C (p.Ser828=)
|
|
|
NM_000094.4(COL7A1):c.2487A>C (p.Ala829=)
|
rs2107767215
|
|
NM_000094.4(COL7A1):c.2489A>C (p.Glu830Ala)
|
|
|
NM_000094.4(COL7A1):c.2493C>A (p.Ile831=)
|
|
|
NM_000094.4(COL7A1):c.2496G>A (p.Arg832=)
|
|
|
NM_000094.4(COL7A1):c.2497G>A (p.Gly833Ser)
|
|
|
NM_000094.4(COL7A1):c.2497G>C (p.Gly833Arg)
|
|
|
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.2510G>A (p.Gly837Glu)
|
|
|
NM_000094.4(COL7A1):c.2520C>T (p.Tyr840=)
|
|
|
NM_000094.4(COL7A1):c.2523A>C (p.Ser841=)
|
|
|
NM_000094.4(COL7A1):c.2527C>T (p.Arg843Ter)
|
rs1278021176
|
|
NM_000094.4(COL7A1):c.2528G>A (p.Arg843Gln)
|
|
|
NM_000094.4(COL7A1):c.2529A>G (p.Arg843=)
|
|
|
NM_000094.4(COL7A1):c.2531T>A (p.Val844Glu)
|
|
|
NM_000094.4(COL7A1):c.2532_2536dup (p.Ala846fs)
|
|
|
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.2549A>G (p.Asp850Gly)
|
|
|
NM_000094.4(COL7A1):c.2551C>T (p.Arg851Cys)
|
|
|
NM_000094.4(COL7A1):c.2552G>T (p.Arg851Leu)
|
|
|
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.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.2573T>C (p.Ile858Thr)
|
|
|
NM_000094.4(COL7A1):c.2574TGT[1] (p.Val860del)
|
|
|
NM_000094.4(COL7A1):c.2582_2587+1del
|
|
|
NM_000094.4(COL7A1):c.2585C>T (p.Thr862Met)
|
|
|
NM_000094.4(COL7A1):c.2586G>C (p.Thr862=)
|
|
|
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.2587+1G>A
|
rs1294265690
|
|
NM_000094.4(COL7A1):c.2587+1G>C
|
rs1294265690
|
|
NM_000094.4(COL7A1):c.2587+2T>C
|
|
|
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.25G>A (p.Ala9Thr)
|
|
|
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.2607_2608del (p.Leu870fs)
|
rs1085307849
|
|
NM_000094.4(COL7A1):c.2611G>C (p.Gly871Arg)
|
|
|
NM_000094.4(COL7A1):c.2615C>T (p.Thr872Met)
|
|
|
NM_000094.4(COL7A1):c.2616G>A (p.Thr872=)
|
|
|
NM_000094.4(COL7A1):c.2621A>T (p.His874Leu)
|
|
|
NM_000094.4(COL7A1):c.2623G>C (p.Val875Leu)
|
|
|
NM_000094.4(COL7A1):c.2625G>A (p.Val875=)
|
|
|
NM_000094.4(COL7A1):c.2625_2626delinsCT (p.Val876Leu)
|
rs2045441032
|
|
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.2635G>C (p.Gly879Arg)
|
|
|
NM_000094.4(COL7A1):c.2636_2646del (p.Gly879fs)
|
rs2107763964
|
|
NM_000094.4(COL7A1):c.2638dup (p.Glu880fs)
|
|
|
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+2T>C
|
rs561997536
|
|
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.267-1G>A
|
|
|
NM_000094.4(COL7A1):c.267-4A>G
|
|
|
NM_000094.4(COL7A1):c.267-7C>T
|
rs2045873231
|
|
NM_000094.4(COL7A1):c.267-8T>A
|
|
|
NM_000094.4(COL7A1):c.2670G>A (p.Val890=)
|
|
|
NM_000094.4(COL7A1):c.2671C>T (p.Pro891Ser)
|
|
|
NM_000094.4(COL7A1):c.2676A>G (p.Arg892=)
|
rs2107763748
|
|
NM_000094.4(COL7A1):c.2678C>T (p.Ala893Val)
|
rs2854389
|
|
NM_000094.4(COL7A1):c.2679G>C (p.Ala893=)
|
|
|
NM_000094.4(COL7A1):c.2681A>T (p.Gln894Leu)
|
|
|
NM_000094.4(COL7A1):c.2693T>C (p.Leu898Pro)
|
|
|
NM_000094.4(COL7A1):c.2698T>G (p.Trp900Gly)
|
rs2107763593
|
|
NM_000094.4(COL7A1):c.2699G>A (p.Trp900Ter)
|
rs1349541188
|
|
NM_000094.4(COL7A1):c.26C>T (p.Ala9Val)
|
|
|
NM_000094.4(COL7A1):c.2708del (p.Glu903fs)
|
rs2107763474
|
|
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+2T>C
|
rs1553613528
|
|
NM_000094.4(COL7A1):c.2710+3G>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.2714G>T (p.Gly905Val)
|
|
|
NM_000094.4(COL7A1):c.2721A>G (p.Glu907=)
|
rs201566458
|
|
NM_000094.4(COL7A1):c.2722C>T (p.Gln908Ter)
|
rs2045393987
|
|
NM_000094.4(COL7A1):c.2724G>A (p.Gln908=)
|
|
|
NM_000094.4(COL7A1):c.2728C>T (p.Arg910Trp)
|
|
|
NM_000094.4(COL7A1):c.2728del (p.Arg910fs)
|
|
|
NM_000094.4(COL7A1):c.2729G>A (p.Arg910Gln)
|
|
|
NM_000094.4(COL7A1):c.2730G>T (p.Arg910=)
|
rs2045393125
|
|
NM_000094.4(COL7A1):c.2731G>A (p.Val911Ile)
|
rs1176948687
|
|
NM_000094.4(COL7A1):c.2742C>G (p.Pro914=)
|
|
|
NM_000094.4(COL7A1):c.2743G>T (p.Glu915Ter)
|
rs747337505
|
|
NM_000094.4(COL7A1):c.2745del (p.Glu915fs)
|
|
|
NM_000094.4(COL7A1):c.2748C>G (p.Leu916=)
|
rs2107760554
|
|
NM_000094.4(COL7A1):c.2748C>T (p.Leu916=)
|
|
|
NM_000094.4(COL7A1):c.2750G>A (p.Ser917Asn)
|
rs1205999989
|
|
NM_000094.4(COL7A1):c.2762T>A (p.Leu921Gln)
|
|
|
NM_000094.4(COL7A1):c.2767G>A (p.Gly923Arg)
|
|
|
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.2776C>T (p.Pro926Ser)
|
|
|
NM_000094.4(COL7A1):c.2778_2779del (p.Ala927fs)
|
|
|
NM_000094.4(COL7A1):c.277G>A (p.Gly93Ser)
|
|
|
NM_000094.4(COL7A1):c.2780C>T (p.Ala927Val)
|
|
|
NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs)
|
rs2045388619
|
|
NM_000094.4(COL7A1):c.2785C>T (p.Gln929Ter)
|
rs2107760251
|
|
NM_000094.4(COL7A1):c.278G>A (p.Gly93Asp)
|
|
|
NM_000094.4(COL7A1):c.2791C>A (p.Arg931Ser)
|
rs143979792
|
|
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.2803_2804del (p.Ser935fs)
|
rs2045385688
|
|
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.2813G>A (p.Gly938Glu)
|
rs2045384688
|
|
NM_000094.4(COL7A1):c.2816_2817inv (p.Pro939Leu)
|
|
|
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.282_283delinsCT (p.Asp95Tyr)
|
rs2107802249
|
|
NM_000094.4(COL7A1):c.2835T>A (p.Ser945=)
|
rs2107759667
|
|
NM_000094.4(COL7A1):c.283G>C (p.Asp95His)
|
|
|
NM_000094.4(COL7A1):c.2841G>A (p.Glu947=)
|
rs1327984563
|
|
NM_000094.4(COL7A1):c.2844G>C (p.Val948=)
|
|
|
NM_000094.4(COL7A1):c.2849C>T (p.Ala950Val)
|
|
|
NM_000094.4(COL7A1):c.2850G>C (p.Ala950=)
|
rs746958544
|
|
NM_000094.4(COL7A1):c.2851C>T (p.Arg951Cys)
|
|
|
NM_000094.4(COL7A1):c.2853C>T (p.Arg951=)
|
|
|
NM_000094.4(COL7A1):c.2855C>A (p.Thr952Asn)
|
|
|
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.2908G>A (p.Asp970Asn)
|
|
|
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.2927G>A (p.Trp976Ter)
|
rs756173722
|
|
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.2966G>A (p.Trp989Ter)
|
rs2107757088
|
|
NM_000094.4(COL7A1):c.2968C>A (p.Arg990=)
|
rs763751979
|
|
NM_000094.4(COL7A1):c.2977A>C (p.Arg993=)
|
|
|
NM_000094.4(COL7A1):c.2983C>T (p.Pro995Ser)
|
|
|
NM_000094.4(COL7A1):c.2988C>A (p.Gly996=)
|
|
|
NM_000094.4(COL7A1):c.298G>A (p.Gly100Arg)
|
|
|
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+2T>G
|
rs1575476280
|
|
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.2993-1G>C
|
|
|
NM_000094.4(COL7A1):c.2993-2A>G
|
rs1553612928
|
|
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.2T>G (p.Met1Arg)
|
|
|
NM_000094.4(COL7A1):c.3001G>A (p.Gly1001Arg)
|
|
|
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.3010C>T (p.Gln1004Ter)
|
|
|
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.3025A>G (p.Ile1009Val)
|
|
|
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.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.3053T>A (p.Leu1018Gln)
|
|
|
NM_000094.4(COL7A1):c.3054A>G (p.Leu1018=)
|
rs2107755763
|
|
NM_000094.4(COL7A1):c.3062G>C (p.Gly1021Ala)
|
rs533045231
|
|
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>G (p.Phe1026Leu)
|
|
|
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.3088_3092delinsTCAGGA (p.Pro1030fs)
|
|
|
NM_000094.4(COL7A1):c.3091G>A (p.Val1031Ile)
|
rs1206576149
|
|
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.3115G>C (p.Glu1039Gln)
|
rs776932495
|
|
NM_000094.4(COL7A1):c.3130C>T (p.Gln1044Ter)
|
rs1205027821
|
|
NM_000094.4(COL7A1):c.3132G>A (p.Gln1044=)
|
|
|
NM_000094.4(COL7A1):c.3134C>T (p.Thr1045Met)
|
|
|
NM_000094.4(COL7A1):c.3138A>G (p.Pro1046=)
|
|
|
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+1G>C
|
|
|
NM_000094.4(COL7A1):c.3139+20A>C
|
|
|
NM_000094.4(COL7A1):c.3139+8G>A
|
|
|
NM_000094.4(COL7A1):c.313dup (p.Arg105fs)
|
rs2045868741
|
|
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.3144C>A (p.Cys1048Ter)
|
|
|
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.3148del (p.Arg1050fs)
|
rs2045324382
|
|
NM_000094.4(COL7A1):c.3150T>A (p.Arg1050=)
|
|
|
NM_000094.4(COL7A1):c.3156G>T (p.Leu1052=)
|
rs2045323348
|
|
NM_000094.4(COL7A1):c.3157G>A (p.Ala1053Thr)
|
|
|
NM_000094.4(COL7A1):c.3159G>A (p.Ala1053=)
|
|
|
NM_000094.4(COL7A1):c.3168G>A (p.Val1056=)
|
rs2045322142
|
|
NM_000094.4(COL7A1):c.316G>T (p.Ala106Ser)
|
|
|
NM_000094.4(COL7A1):c.3170_3173del (p.Phe1057fs)
|
rs1435934984
|
|
NM_000094.4(COL7A1):c.3176C>T (p.Pro1059Leu)
|
|
|
NM_000094.4(COL7A1):c.317C>T (p.Ala106Val)
|
rs767643638
|
|
NM_000094.4(COL7A1):c.3187C>T (p.Gln1063Ter)
|
|
|
NM_000094.4(COL7A1):c.3194A>G (p.Asn1065Ser)
|
|
|
NM_000094.4(COL7A1):c.3195T>C (p.Asn1065=)
|
rs2107753762
|
|
NM_000094.4(COL7A1):c.3199C>T (p.His1067Tyr)
|
|
|
NM_000094.4(COL7A1):c.3202C>T (p.Arg1068Cys)
|
|
|
NM_000094.4(COL7A1):c.3203G>T (p.Arg1068Leu)
|
|
|
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.3212del (p.Ala1071fs)
|
|
|
NM_000094.4(COL7A1):c.3213T>A (p.Ala1071=)
|
rs774363321
|
|
NM_000094.4(COL7A1):c.3214A>G (p.Thr1072Ala)
|
rs2107753501
|
|
NM_000094.4(COL7A1):c.3215C>T (p.Thr1072Met)
|
|
|
NM_000094.4(COL7A1):c.3221G>A (p.Arg1074Lys)
|
|
|
NM_000094.4(COL7A1):c.3224T>C (p.Val1075Ala)
|
rs2045316478
|
|
NM_000094.4(COL7A1):c.3228G>A (p.Leu1076=)
|
rs2107753337
|
|
NM_000094.4(COL7A1):c.322C>T (p.Arg108Cys)
|
|
|
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.325_326insCG (p.Glu109fs)
|
rs1235811820
|
|
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+6G>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.3277-3C>T
|
|
|
NM_000094.4(COL7A1):c.3277-5C>T
|
rs1427334212
|
|
NM_000094.4(COL7A1):c.3277-6C>A
|
|
|
NM_000094.4(COL7A1):c.3281dup (p.Leu1095fs)
|
|
|
NM_000094.4(COL7A1):c.3282C>T (p.Gly1094=)
|
rs2045288957
|
|
NM_000094.4(COL7A1):c.3289T>A (p.Ser1097Thr)
|
|
|
NM_000094.4(COL7A1):c.3294C>T (p.Tyr1098=)
|
rs1241474192
|
|
NM_000094.4(COL7A1):c.329_332dup (p.Ser111_Tyr112insTer)
|
rs1256976418
|
|
NM_000094.4(COL7A1):c.32del (p.Cys11fs)
|
rs2107812280
|
|
NM_000094.4(COL7A1):c.3306C>T (p.Pro1102=)
|
|
|
NM_000094.4(COL7A1):c.3310delinsAA (p.Pro1104fs)
|
rs2045286625
|
|
NM_000094.4(COL7A1):c.3315G>A (p.Leu1105=)
|
rs1436836031
|
|
NM_000094.4(COL7A1):c.3315G>C (p.Leu1105=)
|
|
|
NM_000094.4(COL7A1):c.3317T>G (p.Phe1106Cys)
|
|
|
NM_000094.4(COL7A1):c.3336T>C (p.His1112=)
|
|
|
NM_000094.4(COL7A1):c.3339C>T (p.Asp1113=)
|
|
|
NM_000094.4(COL7A1):c.3353T>C (p.Leu1118Ser)
|
|
|
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>A (p.Tyr1126Ter)
|
rs2107750137
|
|
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.341G>T (p.Gly114Val)
|
|
|
NM_000094.4(COL7A1):c.3424C>T (p.His1142Tyr)
|
|
|
NM_000094.4(COL7A1):c.342G>A (p.Gly114=)
|
|
|
NM_000094.4(COL7A1):c.3432C>A (p.Tyr1144Ter)
|
|
|
NM_000094.4(COL7A1):c.3433A>G (p.Met1145Val)
|
|
|
NM_000094.4(COL7A1):c.3436T>C (p.Leu1146=)
|
rs2107749142
|
|
NM_000094.4(COL7A1):c.3437T>A (p.Leu1146Ter)
|
rs2107749132
|
|
NM_000094.4(COL7A1):c.3442C>A (p.Pro1148Thr)
|
|
|
NM_000094.4(COL7A1):c.344dup (p.Asn116fs)
|
|
|
NM_000094.4(COL7A1):c.3453T>A (p.Pro1151=)
|
|
|
NM_000094.4(COL7A1):c.3456G>A (p.Gly1152=)
|
rs749426366
|
|
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.3465G>A (p.Gln1155=)
|
|
|
NM_000094.4(COL7A1):c.3470T>C (p.Val1157Ala)
|
|
|
NM_000094.4(COL7A1):c.3473C>T (p.Pro1158Leu)
|
|
|
NM_000094.4(COL7A1):c.3473del (p.Pro1158fs)
|
rs764605074
|
|
NM_000094.4(COL7A1):c.3477G>A (p.Gly1159=)
|
rs757858567
|
|
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.3481A>G (p.Met1161Val)
|
|
|
NM_000094.4(COL7A1):c.3487C>G (p.Leu1163Val)
|
|
|
NM_000094.4(COL7A1):c.3489G>C (p.Leu1163=)
|
|
|
NM_000094.4(COL7A1):c.348C>A (p.Asn116Lys)
|
|
|
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.3515_3524dup (p.Ser1175fs)
|
rs1575472776
|
|
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.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.3546T>C (p.Ala1182=)
|
|
|
NM_000094.4(COL7A1):c.3547_3549dup (p.Ser1183_Gly1184insSer)
|
|
|
NM_000094.4(COL7A1):c.3549T>C (p.Ser1183=)
|
|
|
NM_000094.4(COL7A1):c.354C>T (p.Arg118=)
|
rs2045864886
|
|
NM_000094.4(COL7A1):c.3550+11G>A
|
rs2045256350
|
|
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+1del
|
rs2107748182
|
|
NM_000094.4(COL7A1):c.3550+20G>T
|
|
|
NM_000094.4(COL7A1):c.3550+4A>C
|
|
|
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.3551-3T>G
|
rs773263825
|
|
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.3563_3581dup (p.Ala1195fs)
|
|
|
NM_000094.4(COL7A1):c.3568T>C (p.Leu1190=)
|
|
|
NM_000094.4(COL7A1):c.356_357del (p.Thr119fs)
|
rs1261268687
|
|
NM_000094.4(COL7A1):c.3583G>A (p.Ala1195Thr)
|
|
|
NM_000094.4(COL7A1):c.3586G>A (p.Asp1196Asn)
|
rs1417574149
|
|
NM_000094.4(COL7A1):c.3587A>G (p.Asp1196Gly)
|
|
|
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.3610G>A (p.Ala1204Thr)
|
rs2107747092
|
|
NM_000094.4(COL7A1):c.3611dup (p.Pro1205fs)
|
|
|
NM_000094.4(COL7A1):c.3613C>T (p.Pro1205Ser)
|
|
|
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.361del (p.Ala121fs)
|
|
|
NM_000094.4(COL7A1):c.3625_3635del (p.Ser1209fs)
|
|
|
NM_000094.4(COL7A1):c.3628G>C (p.Val1210Leu)
|
|
|
NM_000094.4(COL7A1):c.3635C>A (p.Thr1212Asn)
|
|
|
NM_000094.4(COL7A1):c.3636del (p.Phe1213fs)
|
rs2107746826
|
|
NM_000094.4(COL7A1):c.3637T>A (p.Phe1213Ile)
|
|
|
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.364G>A (p.Ala122Thr)
|
rs1209617628
|
|
NM_000094.4(COL7A1):c.364G>T (p.Ala122Ser)
|
|
|
NM_000094.4(COL7A1):c.3657G>A (p.Gly1219=)
|
rs2107746630
|
|
NM_000094.4(COL7A1):c.365C>T (p.Ala122Val)
|
|
|
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.3674C>T (p.Ala1225Val)
|
|
|
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.3702T>A (p.Cys1234Ter)
|
rs2045235863
|
|
NM_000094.4(COL7A1):c.3703C>T (p.Gln1235Ter)
|
|
|
NM_000094.4(COL7A1):c.3711C>G (p.Ser1237=)
|
|
|
NM_000094.4(COL7A1):c.3711C>T (p.Ser1237=)
|
|
|
NM_000094.4(COL7A1):c.3715A>G (p.Thr1239Ala)
|
|
|
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.3723+1G>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.3727del (p.Arg1243fs)
|
|
|
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.3754C>A (p.Pro1252Thr)
|
|
|
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.3760-1G>A
|
rs2107744367
|
|
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+1G>A
|
|
|
NM_000094.4(COL7A1):c.3786+3G>A
|
rs2107744113
|
|
NM_000094.4(COL7A1):c.3786+6T>C
|
|
|
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.3787-2A>G
|
|
|
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.3803T>C (p.Val1268Ala)
|
|
|
NM_000094.4(COL7A1):c.3803T>G (p.Val1268Gly)
|
|
|
NM_000094.4(COL7A1):c.3810T>G (p.Pro1270=)
|
rs2107743170
|
|
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.3830del (p.Pro1277fs)
|
rs774436727
|
|
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+2T>C
|
rs2107742867
|
|
NM_000094.4(COL7A1):c.3831+7G>A
|
rs2107742799
|
|
NM_000094.4(COL7A1):c.3831+9C>A
|
|
|
NM_000094.4(COL7A1):c.3831G>A (p.Pro1277=)
|
|
|
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.3837G>T (p.Arg1279Ser)
|
|
|
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs)
|
rs757688782
|
|
NM_000094.4(COL7A1):c.3844G>A (p.Ala1282Thr)
|
|
|
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.3853C>A (p.Pro1285Thr)
|
rs1168566312
|
|
NM_000094.4(COL7A1):c.3856C>T (p.Gln1286Ter)
|
|
|
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.3861_3862delinsTA (p.Pro1288Thr)
|
rs2107742052
|
|
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.3889G>C (p.Glu1297Gln)
|
|
|
NM_000094.4(COL7A1):c.3889G>T (p.Glu1297Ter)
|
|
|
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+1G>A
|
rs2107741719
|
|
NM_000094.4(COL7A1):c.3894+6T>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.3895-34_3905del
|
|
|
NM_000094.4(COL7A1):c.3895-5C>T
|
|
|
NM_000094.4(COL7A1):c.38G>C (p.Gly13Ala)
|
|
|
NM_000094.4(COL7A1):c.3909A>C (p.Ala1303=)
|
|
|
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.3924C>G (p.Gly1308=)
|
|
|
NM_000094.4(COL7A1):c.3933C>T (p.Gly1311=)
|
rs2107738944
|
|
NM_000094.4(COL7A1):c.3934C>T (p.Arg1312Cys)
|
|
|
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.3940G>A (p.Gly1314Arg)
|
|
|
NM_000094.4(COL7A1):c.3940_3963del (p.Gly1314_Ala1321del)
|
|
|
NM_000094.4(COL7A1):c.3942G>C (p.Gly1314=)
|
|
|
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs)
|
rs747912732
|
|
NM_000094.4(COL7A1):c.3948dup (p.Gly1317fs)
|
|
|
NM_000094.4(COL7A1):c.3951G>C (p.Gly1317=)
|
|
|
NM_000094.4(COL7A1):c.3956del (p.Pro1319fs)
|
|
|
NM_000094.4(COL7A1):c.3963C>G (p.Ala1321=)
|
|
|
NM_000094.4(COL7A1):c.3963C>T (p.Ala1321=)
|
|
|
NM_000094.4(COL7A1):c.3968G>C (p.Gly1323Ala)
|
|
|
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+1G>T
|
|
|
NM_000094.4(COL7A1):c.3975+20C>T
|
|
|
NM_000094.4(COL7A1):c.3975+2T>A
|
rs753368984
|
|
NM_000094.4(COL7A1):c.3975+6C>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.3980C>T (p.Ser1327Phe)
|
|
|
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.3G>T (p.Met1Ile)
|
|
|
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.4009C>G (p.Pro1337Ala)
|
|
|
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.4012-2A>C
|
rs2107736723
|
|
NM_000094.4(COL7A1):c.4012-5C>T
|
|
|
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)
|
rs1156352791
|
|
NM_000094.4(COL7A1):c.4017G>A (p.Glu1339=)
|
|
|
NM_000094.4(COL7A1):c.402dup (p.Leu135fs)
|
rs2107801259
|
|
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.4039G>C (p.Gly1347Arg)
|
rs121912833
|
|
NM_000094.4(COL7A1):c.4039G>T (p.Gly1347Trp)
|
rs121912833
|
|
NM_000094.4(COL7A1):c.403C>A (p.Leu135Met)
|
rs145560571
|
|
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+2T>C
|
rs1365148358
|
|
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.4047G>A (p.Pro1349=)
|
|
|
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.4048-2A>G
|
|
|
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.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.4059A>G (p.Gly1353=)
|
|
|
NM_000094.4(COL7A1):c.4065C>T (p.Val1355=)
|
|
|
NM_000094.4(COL7A1):c.4072G>A (p.Gly1358Ser)
|
rs750288565
|
|
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.4088T>C (p.Leu1363Pro)
|
|
|
NM_000094.4(COL7A1):c.408C>A (p.Ala136=)
|
|
|
NM_000094.4(COL7A1):c.408C>G (p.Ala136=)
|
|
|
NM_000094.4(COL7A1):c.4091C>T (p.Pro1364Leu)
|
rs2107734875
|
|
NM_000094.4(COL7A1):c.4095G>A (p.Gly1365=)
|
rs1326680697
|
|
NM_000094.4(COL7A1):c.4095del (p.Arg1366fs)
|
|
|
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.409C>T (p.Arg137Ter)
|
rs1203706188
|
|
NM_000094.4(COL7A1):c.410G>A (p.Arg137Gln)
|
|
|
NM_000094.4(COL7A1):c.4110T>G (p.Pro1370=)
|
|
|
NM_000094.4(COL7A1):c.4112G>C (p.Gly1371Ala)
|
|
|
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.4119G>A (p.Ser1373=)
|
|
|
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.4120-1G>A
|
rs1299648939
|
|
NM_000094.4(COL7A1):c.4120-1G>C
|
rs1299648939
|
|
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.4128del (p.Gly1377fs)
|
rs1575466699
|
|
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.4147G>A (p.Gly1383Arg)
|
rs2045046700
|
|
NM_000094.4(COL7A1):c.414T>C (p.Pro138=)
|
rs2107801140
|
|
NM_000094.4(COL7A1):c.4152C>T (p.Asp1384=)
|
|
|
NM_000094.4(COL7A1):c.4153C>A (p.Pro1385Thr)
|
|
|
NM_000094.4(COL7A1):c.4163G>A (p.Arg1388His)
|
|
|
NM_000094.4(COL7A1):c.4164T>C (p.Arg1388=)
|
rs2107733172
|
|
NM_000094.4(COL7A1):c.4166G>T (p.Gly1389Val)
|
|
|
NM_000094.4(COL7A1):c.4167C>T (p.Gly1389=)
|
rs951832325
|
|
NM_000094.4(COL7A1):c.4172C>T (p.Pro1391Leu)
|
|
|
NM_000094.4(COL7A1):c.4172del (p.Pro1391fs)
|
rs2107733058
|
|
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.4177C>T (p.Leu1393Phe)
|
|
|
NM_000094.4(COL7A1):c.417T>G (p.Gly139=)
|
|
|
NM_000094.4(COL7A1):c.4183G>A (p.Gly1395Arg)
|
rs2107732981
|
|
NM_000094.4(COL7A1):c.4184del (p.Gly1395fs)
|
rs2107732969
|
|
NM_000094.4(COL7A1):c.4185A>G (p.Gly1395=)
|
|
|
NM_000094.4(COL7A1):c.4186A>G (p.Thr1396Ala)
|
|
|
NM_000094.4(COL7A1):c.4193T>C (p.Met1398Thr)
|
|
|
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+1G>T
|
rs1401166141
|
|
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.4198-5del
|
|
|
NM_000094.4(COL7A1):c.4203C>T (p.Asp1401=)
|
|
|
NM_000094.4(COL7A1):c.4205A>G (p.Lys1402Arg)
|
|
|
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+1G>A
|
rs769954836
|
|
NM_000094.4(COL7A1):c.4224+3_4224+6del
|
|
|
NM_000094.4(COL7A1):c.4224+7G>A
|
rs2107730891
|
|
NM_000094.4(COL7A1):c.4224+9G>A
|
rs1356035288
|
|
NM_000094.4(COL7A1):c.4224G>A (p.Arg1408=)
|
|
|
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.4233del (p.Gly1412fs)
|
rs1560241522
|
|
NM_000094.4(COL7A1):c.4238C>G (p.Pro1413Arg)
|
|
|
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+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.426+9_426+18del
|
|
|
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.4271G>A (p.Gly1424Glu)
|
|
|
NM_000094.4(COL7A1):c.4275G>A (p.Leu1425=)
|
rs774486289
|
|
NM_000094.4(COL7A1):c.4278+16G>T
|
|
|
NM_000094.4(COL7A1):c.4278+1G>A
|
|
|
NM_000094.4(COL7A1):c.4278+2T>C
|
|
|
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>G
|
|
|
NM_000094.4(COL7A1):c.4279-15C>T
|
|
|
NM_000094.4(COL7A1):c.4279-17T>C
|
|
|
NM_000094.4(COL7A1):c.4279-17del
|
rs1560240926
|
|
NM_000094.4(COL7A1):c.4279-18T>C
|
|
|
NM_000094.4(COL7A1):c.4279-1G>A
|
|
|
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.4291A>C (p.Ser1431Arg)
|
|
|
NM_000094.4(COL7A1):c.4293C>G (p.Ser1431Arg)
|
|
|
NM_000094.4(COL7A1):c.4296T>G (p.Pro1432=)
|
rs2107728658
|
|
NM_000094.4(COL7A1):c.4297G>C (p.Gly1433Arg)
|
rs2044972455
|
|
NM_000094.4(COL7A1):c.4299A>T (p.Gly1433=)
|
|
|
NM_000094.4(COL7A1):c.429C>T (p.Val143=)
|
|
|
NM_000094.4(COL7A1):c.4303C>T (p.Gln1435Ter)
|
|
|
NM_000094.4(COL7A1):c.4312G>T (p.Val1438Phe)
|
rs148625586
|
|
NM_000094.4(COL7A1):c.4322del (p.Pro1441fs)
|
rs753185460
|
|
NM_000094.4(COL7A1):c.4328A>T (p.Lys1443Met)
|
rs2107728341
|
|
NM_000094.4(COL7A1):c.4330A>G (p.Lys1444Glu)
|
|
|
NM_000094.4(COL7A1):c.4332A>G (p.Lys1444=)
|
|
|
NM_000094.4(COL7A1):c.4336del (p.Glu1446fs)
|
|
|
NM_000094.4(COL7A1):c.4341+16del
|
|
|
NM_000094.4(COL7A1):c.4341+17G>C
|
|
|
NM_000094.4(COL7A1):c.4341+2T>C
|
rs2044967603
|
|
NM_000094.4(COL7A1):c.4341+6A>G
|
|
|
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>A
|
rs188592093
|
|
NM_000094.4(COL7A1):c.4342-18C>G
|
|
|
NM_000094.4(COL7A1):c.4342-18C>T
|
|
|
NM_000094.4(COL7A1):c.4342-1G>T
|
rs2044955528
|
|
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.4351del (p.Glu1451fs)
|
|
|
NM_000094.4(COL7A1):c.4353G>T (p.Glu1451Asp)
|
rs2107727375
|
|
NM_000094.4(COL7A1):c.4355A>T (p.Asp1452Val)
|
|
|
NM_000094.4(COL7A1):c.4364C>T (p.Pro1455Leu)
|
|
|
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>A (p.Pro1464=)
|
|
|
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.4401+2T>A
|
|
|
NM_000094.4(COL7A1):c.4402-16A>G
|
|
|
NM_000094.4(COL7A1):c.4402-17A>C
|
|
|
NM_000094.4(COL7A1):c.4402-20C>T
|
|
|
NM_000094.4(COL7A1):c.4402-5_4402-2del
|
|
|
NM_000094.4(COL7A1):c.4404_4422del (p.Pro1469fs)
|
rs2107726116
|
|
NM_000094.4(COL7A1):c.4406dup (p.Arg1470fs)
|
|
|
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.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+1G>C
|
rs2107725932
|
|
NM_000094.4(COL7A1):c.4437+2T>G
|
rs2107725917
|
|
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.4438-2A>G
|
|
|
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.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.4458G>A (p.Gly1486=)
|
rs1370750972
|
|
NM_000094.4(COL7A1):c.4461C>G (p.Pro1487=)
|
|
|
NM_000094.4(COL7A1):c.4478del (p.Glu1493fs)
|
rs2044901183
|
|
NM_000094.4(COL7A1):c.4479G>A (p.Glu1493=)
|
|
|
NM_000094.4(COL7A1):c.4480A>G (p.Lys1494Glu)
|
rs2107723957
|
|
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+5G>A
|
|
|
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.4483-1G>A
|
rs2044891130
|
|
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.448G>A (p.Gly150Arg)
|
rs757715378
|
|
NM_000094.4(COL7A1):c.4491T>G (p.Arg1497=)
|
|
|
NM_000094.4(COL7A1):c.4495C>A (p.Pro1499Thr)
|
|
|
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.4506_4516del (p.Ala1503fs)
|
|
|
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+1G>A
|
rs2107722847
|
|
NM_000094.4(COL7A1):c.4518+20T>C
|
|
|
NM_000094.4(COL7A1):c.4518+6C>T
|
|
|
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.4519-2A>C
|
|
|
NM_000094.4(COL7A1):c.4519-3C>T
|
rs2044853178
|
|
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.4531_4564-42del
|
rs2044843806
|
|
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.4546G>A (p.Gly1516Arg)
|
rs758941226
|
|
NM_000094.4(COL7A1):c.4550_4554del (p.Ala1517fs)
|
rs756897026
|
|
NM_000094.4(COL7A1):c.4552A>G (p.Lys1518Glu)
|
rs2107720058
|
|
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.4564-2A>C
|
|
|
NM_000094.4(COL7A1):c.4564-9T>C
|
rs2044838891
|
|
NM_000094.4(COL7A1):c.4568C>T (p.Pro1523Leu)
|
|
|
NM_000094.4(COL7A1):c.4568del (p.Pro1523fs)
|
rs778165989
|
|
NM_000094.4(COL7A1):c.4569A>G (p.Pro1523=)
|
|
|
NM_000094.4(COL7A1):c.4574G>A (p.Gly1525Glu)
|
|
|
NM_000094.4(COL7A1):c.4576C>T (p.Pro1526Ser)
|
|
|
NM_000094.4(COL7A1):c.4586G>A (p.Arg1529His)
|
|
|
NM_000094.4(COL7A1):c.4586G>T (p.Arg1529Leu)
|
|
|
NM_000094.4(COL7A1):c.4588C>T (p.Gln1530Ter)
|
rs2107718927
|
|
NM_000094.4(COL7A1):c.4590del (p.Gly1531fs)
|
|
|
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+2T>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.4600-1G>A
|
rs2107717836
|
|
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.4603G>T (p.Glu1535Ter)
|
rs1487476449
|
|
NM_000094.4(COL7A1):c.4605G>A (p.Glu1535=)
|
|
|
NM_000094.4(COL7A1):c.4608T>A (p.Pro1536=)
|
|
|
NM_000094.4(COL7A1):c.4609G>A (p.Gly1537Ser)
|
|
|
NM_000094.4(COL7A1):c.4621del (p.Asp1541fs)
|
rs1272238711
|
|
NM_000094.4(COL7A1):c.4629A>C (p.Ala1543=)
|
rs2107717516
|
|
NM_000094.4(COL7A1):c.462C>T (p.Asp154=)
|
|
|
NM_000094.4(COL7A1):c.462_520+17del
|
|
|
NM_000094.4(COL7A1):c.4632G>A (p.Val1544=)
|
|
|
NM_000094.4(COL7A1):c.4635+16A>C
|
|
|
NM_000094.4(COL7A1):c.4635+16A>G
|
|
|
NM_000094.4(COL7A1):c.4635+9C>A
|
|
|
NM_000094.4(COL7A1):c.4636-13T>G
|
|
|
NM_000094.4(COL7A1):c.4636-14C>T
|
|
|
NM_000094.4(COL7A1):c.4636-18T>C
|
rs2107715285
|
|
NM_000094.4(COL7A1):c.4636-19C>G
|
|
|
NM_000094.4(COL7A1):c.4636-19C>T
|
|
|
NM_000094.4(COL7A1):c.4636-1G>A
|
|
|
NM_000094.4(COL7A1):c.4636-2A>G
|
|
|
NM_000094.4(COL7A1):c.4636-8G>C
|
|
|
NM_000094.4(COL7A1):c.4637G>A (p.Gly1546Glu)
|
|
|
NM_000094.4(COL7A1):c.463C>T (p.Leu155=)
|
|
|
NM_000094.4(COL7A1):c.4642G>A (p.Ala1548Thr)
|
|
|
NM_000094.4(COL7A1):c.4661G>A (p.Gly1554Glu)
|
rs2107715075
|
|
NM_000094.4(COL7A1):c.4665_4667delinsCGG (p.Glu1555_Lys1556delinsAspGly)
|
|
|
NM_000094.4(COL7A1):c.4667del (p.Lys1556fs)
|
|
|
NM_000094.4(COL7A1):c.4668+11T>C
|
|
|
NM_000094.4(COL7A1):c.4668+13T>C
|
|
|
NM_000094.4(COL7A1):c.4668+14G>A
|
|
|
NM_000094.4(COL7A1):c.4668+17G>A
|
|
|
NM_000094.4(COL7A1):c.4668+1G>C
|
|
|
NM_000094.4(COL7A1):c.4669-14T>C
|
rs2107714371
|
|
NM_000094.4(COL7A1):c.4669-7C>A
|
|
|
NM_000094.4(COL7A1):c.4669-7C>T
|
|
|
NM_000094.4(COL7A1):c.4669-8A>G
|
|
|
NM_000094.4(COL7A1):c.4669-9C>T
|
|
|
NM_000094.4(COL7A1):c.466G>A (p.Val156Met)
|
|
|
NM_000094.4(COL7A1):c.4675G>T (p.Val1559Leu)
|
|
|
NM_000094.4(COL7A1):c.4683C>A (p.Pro1561=)
|
rs141566570
|
|
NM_000094.4(COL7A1):c.4684G>C (p.Ala1562Pro)
|
|
|
NM_000094.4(COL7A1):c.468G>A (p.Val156=)
|
rs973589872
|
|
NM_000094.4(COL7A1):c.4694G>A (p.Arg1565Lys)
|
|
|
NM_000094.4(COL7A1):c.4695A>G (p.Arg1565=)
|
|
|
NM_000094.4(COL7A1):c.4696G>A (p.Gly1566Arg)
|
rs2107714139
|
|
NM_000094.4(COL7A1):c.4705G>A (p.Gly1569Arg)
|
|
|
NM_000094.4(COL7A1):c.4711C>G (p.Gln1571Glu)
|
|
|
NM_000094.4(COL7A1):c.4713A>G (p.Gln1571=)
|
rs766402307
|
|
NM_000094.4(COL7A1):c.4718A>G (p.Glu1573Gly)
|
|
|
NM_000094.4(COL7A1):c.4720C>A (p.Arg1574=)
|
rs773815805
|
|
NM_000094.4(COL7A1):c.4721G>A (p.Arg1574Gln)
|
|
|
NM_000094.4(COL7A1):c.4722+12G>A
|
|
|
NM_000094.4(COL7A1):c.4722+14A>T
|
|
|
NM_000094.4(COL7A1):c.4722+15G>A
|
|
|
NM_000094.4(COL7A1):c.4722+20T>C
|
|
|
NM_000094.4(COL7A1):c.4722+20T>G
|
|
|
NM_000094.4(COL7A1):c.4722+4A>T
|
|
|
NM_000094.4(COL7A1):c.4722+9A>G
|
|
|
NM_000094.4(COL7A1):c.4723-14C>T
|
|
|
NM_000094.4(COL7A1):c.4723-17T>C
|
|
|
NM_000094.4(COL7A1):c.4723-18T>C
|
|
|
NM_000094.4(COL7A1):c.4723-2A>C
|
|
|
NM_000094.4(COL7A1):c.4723-5C>T
|
rs2107713540
|
|
NM_000094.4(COL7A1):c.4723-6C>T
|
|
|
NM_000094.4(COL7A1):c.4723-7T>G
|
|
|
NM_000094.4(COL7A1):c.4731C>A (p.Pro1577=)
|
|
|
NM_000094.4(COL7A1):c.4731C>T (p.Pro1577=)
|
rs562521065
|
|
NM_000094.4(COL7A1):c.4732G>A (p.Gly1578Ser)
|
|
|
NM_000094.4(COL7A1):c.4733G>A (p.Gly1578Asp)
|
|
|
NM_000094.4(COL7A1):c.4737G>A (p.Leu1579=)
|
|
|
NM_000094.4(COL7A1):c.4737G>T (p.Leu1579Phe)
|
|
|
NM_000094.4(COL7A1):c.4738_4740delinsA (p.Val1580fs)
|
|
|
NM_000094.4(COL7A1):c.4744C>T (p.Pro1582Ser)
|
|
|
NM_000094.4(COL7A1):c.4752C>T (p.Asp1584=)
|
|
|
NM_000094.4(COL7A1):c.4756G>A (p.Gly1586Ser)
|
|
|
NM_000094.4(COL7A1):c.4760C>T (p.Pro1587Leu)
|
|
|
NM_000094.4(COL7A1):c.4761C>G (p.Pro1587=)
|
rs2107713294
|
|
NM_000094.4(COL7A1):c.4766dup (p.Asp1590fs)
|
rs1369428850
|
|
NM_000094.4(COL7A1):c.4767del (p.Asp1590fs)
|
rs1057517721
|
|
NM_000094.4(COL7A1):c.476del (p.Ala159fs)
|
|
|
NM_000094.4(COL7A1):c.4775G>A (p.Gly1592Glu)
|
rs2107713178
|
|
NM_000094.4(COL7A1):c.4779C>A (p.Asp1593Glu)
|
|
|
NM_000094.4(COL7A1):c.4781G>A (p.Arg1594Gln)
|
|
|
NM_000094.4(COL7A1):c.4782+10T>G
|
|
|
NM_000094.4(COL7A1):c.4782+15G>A
|
|
|
NM_000094.4(COL7A1):c.4782+9A>G
|
rs369635501
|
|
NM_000094.4(COL7A1):c.4783-12T>G
|
|
|
NM_000094.4(COL7A1):c.4783-16C>G
|
|
|
NM_000094.4(COL7A1):c.4783-16C>T
|
|
|
NM_000094.4(COL7A1):c.4783-17C>A
|
|
|
NM_000094.4(COL7A1):c.4783-17C>G
|
|
|
NM_000094.4(COL7A1):c.4783-18C>G
|
rs2044755155
|
|
NM_000094.4(COL7A1):c.4783-20C>G
|
|
|
NM_000094.4(COL7A1):c.4783-2A>T
|
rs2107712587
|
|
NM_000094.4(COL7A1):c.4783-9C>T
|
rs2107712643
|
|
NM_000094.4(COL7A1):c.4803C>A (p.Gly1601=)
|
rs768574749
|
|
NM_000094.4(COL7A1):c.4804A>C (p.Arg1602=)
|
|
|
NM_000094.4(COL7A1):c.480C>G (p.Ala160=)
|
|
|
NM_000094.4(COL7A1):c.4810G>C (p.Gly1604Arg)
|
rs1560234201
|
|
NM_000094.4(COL7A1):c.4815C>A (p.Pro1605=)
|
|
|
NM_000094.4(COL7A1):c.4817dup (p.Gly1607fs)
|
rs2044751948
|
|
NM_000094.4(COL7A1):c.4818+1G>C
|
|
|
NM_000094.4(COL7A1):c.4818+3_4818+6dup
|
|
|
NM_000094.4(COL7A1):c.4818+5G>T
|
|
|
NM_000094.4(COL7A1):c.4818+9C>A
|
rs2044751655
|
|
NM_000094.4(COL7A1):c.4819-12C>T
|
|
|
NM_000094.4(COL7A1):c.4819-13G>T
|
|
|
NM_000094.4(COL7A1):c.4819-16C>T
|
|
|
NM_000094.4(COL7A1):c.4819-18C>T
|
|
|
NM_000094.4(COL7A1):c.4819-3C>T
|
|
|
NM_000094.4(COL7A1):c.4819-4A>G
|
|
|
NM_000094.4(COL7A1):c.4827_4828del (p.Gly1610fs)
|
|
|
NM_000094.4(COL7A1):c.4830G>A (p.Gly1610=)
|
rs2107711746
|
|
NM_000094.4(COL7A1):c.4851C>T (p.Asp1617=)
|
|
|
NM_000094.4(COL7A1):c.4853C>T (p.Pro1618Leu)
|
|
|
NM_000094.4(COL7A1):c.4854T>C (p.Pro1618=)
|
|
|
NM_000094.4(COL7A1):c.4857G>A (p.Gly1619=)
|
rs1308893062
|
|
NM_000094.4(COL7A1):c.485G>C (p.Arg162Thr)
|
|
|
NM_000094.4(COL7A1):c.4864G>A (p.Gly1622Ser)
|
|
|
NM_000094.4(COL7A1):c.4866C>G (p.Gly1622=)
|
|
|
NM_000094.4(COL7A1):c.4866C>T (p.Gly1622=)
|
rs371660856
|
|
NM_000094.4(COL7A1):c.4869C>T (p.Pro1623=)
|
rs1575457693
|
|
NM_000094.4(COL7A1):c.486G>A (p.Arg162=)
|
|
|
NM_000094.4(COL7A1):c.486G>C (p.Arg162Ser)
|
|
|
NM_000094.4(COL7A1):c.4872A>G (p.Pro1624=)
|
rs2107711446
|
|
NM_000094.4(COL7A1):c.4883G>C (p.Gly1628Ala)
|
|
|
NM_000094.4(COL7A1):c.4891G>A (p.Gly1631Arg)
|
|
|
NM_000094.4(COL7A1):c.4895G>A (p.Arg1632Gln)
|
|
|
NM_000094.4(COL7A1):c.4899T>C (p.Asp1633=)
|
|
|
NM_000094.4(COL7A1):c.489G>A (p.Leu163=)
|
rs2045850181
|
|
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.4900-1G>C
|
|
|
NM_000094.4(COL7A1):c.4900-2A>G
|
rs1431252268
|
|
NM_000094.4(COL7A1):c.4900-5C>T
|
rs201010613
|
|
NM_000094.4(COL7A1):c.4900-9G>T
|
rs2107710568
|
|
NM_000094.4(COL7A1):c.4901G>A (p.Gly1634Asp)
|
rs1327829674
|
|
NM_000094.4(COL7A1):c.4917A>C (p.Lys1639Asn)
|
|
|
NM_000094.4(COL7A1):c.4917A>G (p.Lys1639=)
|
rs1451206371
|
|
NM_000094.4(COL7A1):c.4919del (p.Gly1640fs)
|
rs1057517722
|
|
NM_000094.4(COL7A1):c.4920T>C (p.Gly1640=)
|
rs2107710413
|
|
NM_000094.4(COL7A1):c.4929T>A (p.Gly1643=)
|
rs2107710311
|
|
NM_000094.4(COL7A1):c.4935+10C>A
|
|
|
NM_000094.4(COL7A1):c.4935+12T>C
|
|
|
NM_000094.4(COL7A1):c.4935+14C>G
|
|
|
NM_000094.4(COL7A1):c.4935+18del
|
|
|
NM_000094.4(COL7A1):c.4935+20T>G
|
|
|
NM_000094.4(COL7A1):c.4935+9C>T
|
rs1051598364
|
|
NM_000094.4(COL7A1):c.4936-10C>G
|
|
|
NM_000094.4(COL7A1):c.4936-12C>G
|
|
|
NM_000094.4(COL7A1):c.4936-16_4936-15del
|
rs1560232701
|
|
NM_000094.4(COL7A1):c.4936-1G>A
|
rs2044708601
|
|
NM_000094.4(COL7A1):c.4936-4C>T
|
|
|
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.4944G>T (p.Pro1648=)
|
|
|
NM_000094.4(COL7A1):c.494G>A (p.Gly165Glu)
|
|
|
NM_000094.4(COL7A1):c.4950G>A (p.Leu1650=)
|
rs768732450
|
|
NM_000094.4(COL7A1):c.4956A>C (p.Gly1652=)
|
|
|
NM_000094.4(COL7A1):c.495G>T (p.Gly165=)
|
|
|
NM_000094.4(COL7A1):c.495del (p.Gln166fs)
|
|
|
NM_000094.4(COL7A1):c.4962A>G (p.Ala1654=)
|
|
|
NM_000094.4(COL7A1):c.4965C>A (p.Gly1655=)
|
rs1560232515
|
|
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=)
|
rs1560232515
|
|
NM_000094.4(COL7A1):c.4967A>C (p.Glu1656Ala)
|
|
|
NM_000094.4(COL7A1):c.4968G>A (p.Glu1656=)
|
rs779192809
|
|
NM_000094.4(COL7A1):c.4969C>T (p.Arg1657Cys)
|
|
|
NM_000094.4(COL7A1):c.496C>T (p.Gln166Ter)
|
|
|
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+13A>G
|
|
|
NM_000094.4(COL7A1):c.4980+16G>C
|
rs750246078
|
|
NM_000094.4(COL7A1):c.4980+1G>C
|
rs730880285
|
|
NM_000094.4(COL7A1):c.4980+1G>T
|
rs730880285
|
|
NM_000094.4(COL7A1):c.4980+20A>T
|
|
|
NM_000094.4(COL7A1):c.4980+4A>C
|
|
|
NM_000094.4(COL7A1):c.4980+9T>G
|
|
|
NM_000094.4(COL7A1):c.4981-10C>T
|
rs2107707271
|
|
NM_000094.4(COL7A1):c.4981-12T>C
|
|
|
NM_000094.4(COL7A1):c.4981-19G>A
|
|
|
NM_000094.4(COL7A1):c.4981-6T>C
|
rs2107707230
|
|
NM_000094.4(COL7A1):c.4981G>A (p.Gly1661Arg)
|
|
|
NM_000094.4(COL7A1):c.4981G>C (p.Gly1661Arg)
|
|
|
NM_000094.4(COL7A1):c.4986A>C (p.Ala1662=)
|
|
|
NM_000094.4(COL7A1):c.4991G>C (p.Gly1664Ala)
|
|
|
NM_000094.4(COL7A1):c.4998G>A (p.Arg1666=)
|
|
|
NM_000094.4(COL7A1):c.49G>C (p.Glu17Gln)
|
|
|
NM_000094.4(COL7A1):c.5007G>A (p.Val1669=)
|
|
|
NM_000094.4(COL7A1):c.5013A>G (p.Glu1671=)
|
|
|
NM_000094.4(COL7A1):c.5015del (p.Lys1672fs)
|
rs1064793499
|
|
NM_000094.4(COL7A1):c.501G>A (p.Gly167=)
|
rs2107800176
|
|
NM_000094.4(COL7A1):c.5022_5030dup (p.Asp1677_Pro1678insGlnGlyAsp)
|
|
|
NM_000094.4(COL7A1):c.502G>A (p.Val168Ile)
|
rs562413402
|
|
NM_000094.4(COL7A1):c.502G>T (p.Val168Phe)
|
|
|
NM_000094.4(COL7A1):c.502del (p.Val168fs)
|
|
|
NM_000094.4(COL7A1):c.5037A>T (p.Gly1679=)
|
|
|
NM_000094.4(COL7A1):c.5042A>G (p.Asp1681Gly)
|
|
|
NM_000094.4(COL7A1):c.5043T>C (p.Asp1681=)
|
|
|
NM_000094.4(COL7A1):c.5045G>A (p.Gly1682Glu)
|
|
|
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+6T>A
|
|
|
NM_000094.4(COL7A1):c.5052+8C>T
|
rs763445374
|
|
NM_000094.4(COL7A1):c.5053-10C>A
|
|
|
NM_000094.4(COL7A1):c.5053-12G>T
|
|
|
NM_000094.4(COL7A1):c.5053-14C>T
|
|
|
NM_000094.4(COL7A1):c.5053-15C>T
|
rs2107705075
|
|
NM_000094.4(COL7A1):c.5053-4G>A
|
|
|
NM_000094.4(COL7A1):c.5053-9T>C
|
|
|
NM_000094.4(COL7A1):c.5057G>C (p.Ser1686Thr)
|
|
|
NM_000094.4(COL7A1):c.5058C>G (p.Ser1686Arg)
|
|
|
NM_000094.4(COL7A1):c.5058C>T (p.Ser1686=)
|
rs144700737
|
|
NM_000094.4(COL7A1):c.505A>G (p.Lys169Glu)
|
|
|
NM_000094.4(COL7A1):c.5061T>C (p.Pro1687=)
|
|
|
NM_000094.4(COL7A1):c.5067A>G (p.Ser1689=)
|
rs2107704878
|
|
NM_000094.4(COL7A1):c.5091G>A (p.Gly1697=)
|
|
|
NM_000094.4(COL7A1):c.5097+10del
|
|
|
NM_000094.4(COL7A1):c.5097+13G>T
|
rs2107704480
|
|
NM_000094.4(COL7A1):c.5097+14G>A
|
|
|
NM_000094.4(COL7A1):c.5097+9G>T
|
rs2107704574
|
|
NM_000094.4(COL7A1):c.5098-10C>A
|
|
|
NM_000094.4(COL7A1):c.5098-15C>A
|
|
|
NM_000094.4(COL7A1):c.5098-16T>C
|
|
|
NM_000094.4(COL7A1):c.5098-20A>C
|
|
|
NM_000094.4(COL7A1):c.5098-20A>G
|
|
|
NM_000094.4(COL7A1):c.5098-3C>T
|
|
|
NM_000094.4(COL7A1):c.5098-5C>G
|
|
|
NM_000094.4(COL7A1):c.5101C>T (p.Pro1701Ser)
|
|
|
NM_000094.4(COL7A1):c.5103C>T (p.Pro1701=)
|
rs1036738746
|
|
NM_000094.4(COL7A1):c.5104C>T (p.Pro1702Ser)
|
|
|
NM_000094.4(COL7A1):c.5107G>T (p.Gly1703Ter)
|
rs1202107642
|
|
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.5120G>A (p.Arg1707Gln)
|
|
|
NM_000094.4(COL7A1):c.5121G>C (p.Arg1707=)
|
rs2107702844
|
|
NM_000094.4(COL7A1):c.5121G>T (p.Arg1707=)
|
|
|
NM_000094.4(COL7A1):c.5124+12G>A
|
|
|
NM_000094.4(COL7A1):c.5124+12G>C
|
rs780294370
|
|
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
|
|
NM_000094.4(COL7A1):c.5125-10C>G
|
|
|
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.5125-2A>T
|
rs2044605646
|
|
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.5125-6C>A
|
|
|
NM_000094.4(COL7A1):c.5125-7C>T
|
|
|
NM_000094.4(COL7A1):c.5125-7_5125-6insAGTGAGAAGTCATT
|
rs2107701339
|
|
NM_000094.4(COL7A1):c.5125-9C>T
|
|
|
NM_000094.4(COL7A1):c.5126T>G (p.Val1709Gly)
|
rs2107701216
|
|
NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs)
|
rs770456964
|
|
NM_000094.4(COL7A1):c.5137C>A (p.Pro1713Thr)
|
|
|
NM_000094.4(COL7A1):c.5149G>A (p.Glu1717Lys)
|
|
|
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
|
|
|
NM_000094.4(COL7A1):c.5155-17_5155-16delinsTT
|
|
|
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.5164_5187del (p.Gly1722_Pro1729del)
|
|
|
NM_000094.4(COL7A1):c.516T>C (p.Ala172=)
|
rs2107800052
|
|
NM_000094.4(COL7A1):c.5170C>T (p.Arg1724Cys)
|
|
|
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.5189G>A (p.Arg1730Gln)
|
|
|
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.5199G>T (p.Lys1733Asn)
|
|
|
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.520+1G>C
|
rs2107799999
|
|
NM_000094.4(COL7A1):c.520+1G>T
|
rs2107799999
|
|
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.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.521-2A>G
|
rs112176369
|
|
NM_000094.4(COL7A1):c.521-5T>A
|
|
|
NM_000094.4(COL7A1):c.521-6_521-1del
|
|
|
NM_000094.4(COL7A1):c.521-8C>T
|
rs2107799401
|
|
NM_000094.4(COL7A1):c.5211C>T (p.Gly1737=)
|
rs2107699777
|
|
NM_000094.4(COL7A1):c.5212C>A (p.Leu1738Ile)
|
|
|
NM_000094.4(COL7A1):c.5214_5217del (p.Pro1739fs)
|
|
|
NM_000094.4(COL7A1):c.5221G>A (p.Ala1741Thr)
|
|
|
NM_000094.4(COL7A1):c.5222C>T (p.Ala1741Val)
|
|
|
NM_000094.4(COL7A1):c.5223C>T (p.Ala1741=)
|
|
|
NM_000094.4(COL7A1):c.522G>T (p.Gly174=)
|
|
|
NM_000094.4(COL7A1):c.522_528del (p.Ile175fs)
|
|
|
NM_000094.4(COL7A1):c.5230del (p.Glu1744fs)
|
rs2107699672
|
|
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+1G>C
|
|
|
NM_000094.4(COL7A1):c.5235+20G>A
|
|
|
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.5257C>A (p.Pro1753Thr)
|
|
|
NM_000094.4(COL7A1):c.5258C>A (p.Pro1753His)
|
|
|
NM_000094.4(COL7A1):c.5261dup (p.Gly1755fs)
|
rs1057517723
|
|
NM_000094.4(COL7A1):c.5269C>T (p.Gln1757Ter)
|
|
|
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+1G>A
|
|
|
NM_000094.4(COL7A1):c.5271+6T>C
|
rs2044571216
|
|
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.5272-6C>A
|
|
|
NM_000094.4(COL7A1):c.5277C>T (p.Asp1759=)
|
|
|
NM_000094.4(COL7A1):c.5280A>C (p.Pro1760=)
|
|
|
NM_000094.4(COL7A1):c.5281G>A (p.Gly1761Ser)
|
|
|
NM_000094.4(COL7A1):c.5282G>A (p.Gly1761Asp)
|
|
|
NM_000094.4(COL7A1):c.5287C>T (p.Arg1763Ter)
|
rs1360704374
|
|
NM_000094.4(COL7A1):c.5288G>A (p.Arg1763Gln)
|
|
|
NM_000094.4(COL7A1):c.5292C>T (p.Gly1764=)
|
|
|
NM_000094.4(COL7A1):c.5300G>A (p.Gly1767Glu)
|
rs886039720
|
|
NM_000094.4(COL7A1):c.5301A>G (p.Gly1767=)
|
rs2107698006
|
|
NM_000094.4(COL7A1):c.5304_5307+1del
|
rs781583687
|
|
NM_000094.4(COL7A1):c.5307+14G>A
|
|
|
NM_000094.4(COL7A1):c.5307+16G>T
|
|
|
NM_000094.4(COL7A1):c.5307+17del
|
|
|
NM_000094.4(COL7A1):c.5307+1G>A
|
rs2107697936
|
|
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.5308G>A (p.Gly1770Ser)
|
|
|
NM_000094.4(COL7A1):c.5309G>T (p.Gly1770Val)
|
|
|
NM_000094.4(COL7A1):c.5323C>T (p.Pro1775Ser)
|
|
|
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.5344G>T (p.Gly1782Ter)
|
rs374718902
|
|
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.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.537C>T (p.Asp179=)
|
rs2045840017
|
|
NM_000094.4(COL7A1):c.5381G>A (p.Gly1794Glu)
|
rs2044547049
|
|
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+1G>A
|
|
|
NM_000094.4(COL7A1):c.5388+9T>C
|
rs758328777
|
|
NM_000094.4(COL7A1):c.539C>A (p.Pro180His)
|
rs2107799274
|
|
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.542A>G (p.Glu181Gly)
|
|
|
NM_000094.4(COL7A1):c.5437C>A (p.Leu1813Ile)
|
rs2107692288
|
|
NM_000094.4(COL7A1):c.5440C>G (p.Arg1814Gly)
|
|
|
NM_000094.4(COL7A1):c.544G>A (p.Glu182Lys)
|
|
|
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.5511A>C (p.Lys1837Asn)
|
|
|
NM_000094.4(COL7A1):c.5514T>C (p.Pro1838=)
|
rs1478176853
|
|
NM_000094.4(COL7A1):c.5515G>C (p.Gly1839Arg)
|
rs2107691155
|
|
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.5524G>A (p.Gly1842Arg)
|
|
|
NM_000094.4(COL7A1):c.5529A>G (p.Lys1843=)
|
rs2107691076
|
|
NM_000094.4(COL7A1):c.5529_5532+7del
|
rs2107690909
|
|
NM_000094.4(COL7A1):c.5531dup (p.Asn1844fs)
|
rs2107691045
|
|
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+1G>A
|
rs767182886
|
|
NM_000094.4(COL7A1):c.5532+3G>A
|
|
|
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.5549C>T (p.Pro1850Leu)
|
|
|
NM_000094.4(COL7A1):c.554G>A (p.Arg185Gln)
|
|
|
NM_000094.4(COL7A1):c.5551G>C (p.Gly1851Arg)
|
|
|
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.5576_5577del (p.Lys1859fs)
|
rs2044349915
|
|
NM_000094.4(COL7A1):c.5578G>A (p.Gly1860Arg)
|
|
|
NM_000094.4(COL7A1):c.5581G>A (p.Asp1861Asn)
|
|
|
NM_000094.4(COL7A1):c.5585C>A (p.Ser1862Ter)
|
|
|
NM_000094.4(COL7A1):c.5589C>G (p.Gly1863=)
|
|
|
NM_000094.4(COL7A1):c.5589C>T (p.Gly1863=)
|
|
|
NM_000094.4(COL7A1):c.5591C>A (p.Ala1864Asp)
|
|
|
NM_000094.4(COL7A1):c.5591C>T (p.Ala1864Val)
|
|
|
NM_000094.4(COL7A1):c.5593T>C (p.Ser1865Pro)
|
|
|
NM_000094.4(COL7A1):c.5597G>C (p.Gly1866Ala)
|
|
|
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+2T>C
|
rs2107683470
|
|
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.5612A>T (p.Asp1871Val)
|
|
|
NM_000094.4(COL7A1):c.5618C>G (p.Pro1873Arg)
|
rs1363574188
|
|
NM_000094.4(COL7A1):c.561C>G (p.Ala187=)
|
|
|
NM_000094.4(COL7A1):c.5626G>A (p.Glu1876Lys)
|
|
|
NM_000094.4(COL7A1):c.5634A>C (p.Gly1878=)
|
rs2107682526
|
|
NM_000094.4(COL7A1):c.5652A>G (p.Gly1884=)
|
|
|
NM_000094.4(COL7A1):c.5654C>T (p.Pro1885Leu)
|
|
|
NM_000094.4(COL7A1):c.5655C>G (p.Pro1885=)
|
rs2107682399
|
|
NM_000094.4(COL7A1):c.5655C>T (p.Pro1885=)
|
|
|
NM_000094.4(COL7A1):c.5656C>T (p.Gln1886Ter)
|
rs2044329211
|
|
NM_000094.4(COL7A1):c.5656del (p.Gln1886fs)
|
|
|
NM_000094.4(COL7A1):c.5659_5666dup (p.Pro1892fs)
|
rs1553855974
|
|
NM_000094.4(COL7A1):c.5661_5664dup (p.Pro1889fs)
|
|
|
NM_000094.4(COL7A1):c.5664T>G (p.Pro1888=)
|
|
|
NM_000094.4(COL7A1):c.5666C>T (p.Pro1889Leu)
|
|
|
NM_000094.4(COL7A1):c.5667A>G (p.Pro1889=)
|
|
|
NM_000094.4(COL7A1):c.5672_5698del (p.Leu1891_Gly1899del)
|
|
|
NM_000094.4(COL7A1):c.5673C>T (p.Leu1891=)
|
|
|
NM_000094.4(COL7A1):c.5675C>T (p.Pro1892Leu)
|
|
|
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.5701-1G>T
|
rs1553855868
|
|
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.5716C>G (p.Pro1906Ala)
|
rs1227012449
|
|
NM_000094.4(COL7A1):c.5720_5721delinsAT (p.Gly1907Asp)
|
rs1057517725
|
|
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.5737-1G>A
|
rs1575442885
|
|
NM_000094.4(COL7A1):c.5737-20C>G
|
|
|
NM_000094.4(COL7A1):c.5737-2A>G
|
|
|
NM_000094.4(COL7A1):c.5737-3C>A
|
rs1345409176
|
|
NM_000094.4(COL7A1):c.5737-4T>G
|
|
|
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.5748G>A (p.Gly1916=)
|
rs769232047
|
|
NM_000094.4(COL7A1):c.5755G>T (p.Gly1919Ter)
|
rs2044302053
|
|
NM_000094.4(COL7A1):c.5759C>T (p.Ser1920Phe)
|
|
|
NM_000094.4(COL7A1):c.5767G>A (p.Glu1923Lys)
|
|
|
NM_000094.4(COL7A1):c.5767del (p.Glu1923fs)
|
rs1575442816
|
|
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.5783del (p.Gly1928fs)
|
|
|
NM_000094.4(COL7A1):c.5793C>A (p.Gly1931=)
|
rs2107679548
|
|
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter)
|
rs757415879
|
|
NM_000094.4(COL7A1):c.5799A>C (p.Arg1933=)
|
|
|
NM_000094.4(COL7A1):c.5800G>A (p.Gly1934Arg)
|
|
|
NM_000094.4(COL7A1):c.5802A>C (p.Gly1934=)
|
rs777787168
|
|
NM_000094.4(COL7A1):c.580TTC[3] (p.Phe197del)
|
|
|
NM_000094.4(COL7A1):c.580TTC[5] (p.Phe197dup)
|
rs543646523
|
|
NM_000094.4(COL7A1):c.5810del (p.Gly1937fs)
|
|
|
NM_000094.4(COL7A1):c.5814T>C (p.Ser1938=)
|
rs2107679385
|
|
NM_000094.4(COL7A1):c.5819del (p.Pro1940fs)
|
rs1575442301
|
|
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+1G>C
|
rs2107679315
|
|
NM_000094.4(COL7A1):c.5820+2T>C
|
rs1575442251
|
|
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.5820+7del
|
rs2107679268
|
|
NM_000094.4(COL7A1):c.5821-19A>T
|
|
|
NM_000094.4(COL7A1):c.5821-20C>T
|
|
|
NM_000094.4(COL7A1):c.5821-2A>G
|
rs111775311
|
|
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+6T>A
|
|
|
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.5860T>C (p.Ser1954Pro)
|
|
|
NM_000094.4(COL7A1):c.5863G>A (p.Ala1955Thr)
|
rs2107676519
|
|
NM_000094.4(COL7A1):c.5869C>G (p.Arg1957Gly)
|
|
|
NM_000094.4(COL7A1):c.5870G>A (p.Arg1957Gln)
|
|
|
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.5906G>A (p.Ser1969Asn)
|
rs2107676353
|
|
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.5923G>A (p.Glu1975Lys)
|
|
|
NM_000094.4(COL7A1):c.5924_5927del (p.Glu1975fs)
|
rs1064797080
|
|
NM_000094.4(COL7A1):c.5926C>G (p.Arg1976Gly)
|
|
|
NM_000094.4(COL7A1):c.5926C>T (p.Arg1976Trp)
|
rs143307229
|
|
NM_000094.4(COL7A1):c.5928G>A (p.Arg1976=)
|
|
|
NM_000094.4(COL7A1):c.5930G>A (p.Arg1977His)
|
|
|
NM_000094.4(COL7A1):c.5932C>T (p.Arg1978Ter)
|
rs1368134215
|
|
NM_000094.4(COL7A1):c.5933G>C (p.Arg1978Pro)
|
rs754315799
|
|
NM_000094.4(COL7A1):c.5937C>G (p.Gly1979=)
|
|
|
NM_000094.4(COL7A1):c.5938C>T (p.Pro1980Ser)
|
|
|
NM_000094.4(COL7A1):c.593T>C (p.Val198Ala)
|
|
|
NM_000094.4(COL7A1):c.5946G>A (p.Gly1982=)
|
rs1264042847
|
|
NM_000094.4(COL7A1):c.5947G>C (p.Asp1983His)
|
|
|
NM_000094.4(COL7A1):c.5947del (p.Asp1983fs)
|
|
|
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.5969del (p.Pro1990fs)
|
|
|
NM_000094.4(COL7A1):c.596A>G (p.Asn199Ser)
|
|
|
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+1G>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.5984C>A (p.Pro1995His)
|
|
|
NM_000094.4(COL7A1):c.5989G>A (p.Gly1997Ser)
|
|
|
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.59G>A (p.Arg20Gln)
|
|
|
NM_000094.4(COL7A1):c.6006C>T (p.Arg2002=)
|
|
|
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg)
|
rs121912832
|
|
NM_000094.4(COL7A1):c.6012G>T (p.Leu2004=)
|
rs2107675155
|
|
NM_000094.4(COL7A1):c.6014_6021delinsGGG (p.Lys2005fs)
|
rs2044235455
|
|
NM_000094.4(COL7A1):c.6016G>T (p.Gly2006Cys)
|
|
|
NM_000094.4(COL7A1):c.6017G>C (p.Gly2006Ala)
|
|
|
NM_000094.4(COL7A1):c.6018C>A (p.Gly2006=)
|
rs367583660
|
|
NM_000094.4(COL7A1):c.6018C>T (p.Gly2006=)
|
|
|
NM_000094.4(COL7A1):c.6019G>A (p.Asp2007Asn)
|
|
|
NM_000094.4(COL7A1):c.6022C>G (p.Arg2008Gly)
|
rs1055680335
|
|
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys)
|
rs1055680335
|
|
NM_000094.4(COL7A1):c.6023G>A (p.Arg2008His)
|
rs1002845719
|
|
NM_000094.4(COL7A1):c.6023G>C (p.Arg2008Pro)
|
|
|
NM_000094.4(COL7A1):c.6025G>A (p.Gly2009Arg)
|
rs2107675021
|
|
NM_000094.4(COL7A1):c.6026G>C (p.Gly2009Ala)
|
|
|
NM_000094.4(COL7A1):c.6028G>A (p.Asp2010Asn)
|
rs753702106
|
|
NM_000094.4(COL7A1):c.6033T>A (p.Pro2011=)
|
rs2107674977
|
|
NM_000094.4(COL7A1):c.6034G>C (p.Gly2012Arg)
|
|
|
NM_000094.4(COL7A1):c.6044G>T (p.Gly2015Val)
|
rs121912843
|
|
NM_000094.4(COL7A1):c.6050C>G (p.Pro2017Arg)
|
rs1402124316
|
|
NM_000094.4(COL7A1):c.6057G>A (p.Leu2019=)
|
|
|
NM_000094.4(COL7A1):c.6059C>A (p.Ala2020Asp)
|
|
|
NM_000094.4(COL7A1):c.6061dup (p.Leu2021fs)
|
rs2107674698
|
|
NM_000094.4(COL7A1):c.6066G>T (p.Gly2022=)
|
rs2044230625
|
|
NM_000094.4(COL7A1):c.6074G>C (p.Gly2025Ala)
|
|
|
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.6079C>T (p.Pro2027Ser)
|
|
|
NM_000094.4(COL7A1):c.6081C>G (p.Pro2027=)
|
rs375047225
|
|
NM_000094.4(COL7A1):c.6081del (p.Pro2029fs)
|
rs780623622
|
|
NM_000094.4(COL7A1):c.6081dup (p.Gly2028fs)
|
rs780623622
|
|
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg)
|
rs762162799
|
|
NM_000094.4(COL7A1):c.6084G>C (p.Gly2028=)
|
rs1305560204
|
|
NM_000094.4(COL7A1):c.608T>G (p.Ile203Ser)
|
|
|
NM_000094.4(COL7A1):c.6092G>T (p.Gly2031Val)
|
|
|
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.6100G>A (p.Gly2034Arg)
|
rs121912844
|
|
NM_000094.4(COL7A1):c.6101G>C (p.Gly2034Ala)
|
rs1057520530
|
|
NM_000094.4(COL7A1):c.6105G>A (p.Glu2035=)
|
|
|
NM_000094.4(COL7A1):c.6109G>A (p.Gly2037Arg)
|
rs1057520599
|
|
NM_000094.4(COL7A1):c.6111_6119dup (p.Gly2040_Ile2041insLysProGly)
|
|
|
NM_000094.4(COL7A1):c.6114G>A (p.Lys2038=)
|
|
|
NM_000094.4(COL7A1):c.6121A>G (p.Ile2041Val)
|
rs2107674241
|
|
NM_000094.4(COL7A1):c.6126C>G (p.Pro2042=)
|
|
|
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg)
|
rs121912836
|
|
NM_000094.4(COL7A1):c.6127G>C (p.Gly2043Arg)
|
rs121912836
|
|
NM_000094.4(COL7A1):c.6135A>C (p.Pro2045=)
|
rs2107674145
|
|
NM_000094.4(COL7A1):c.6138C>A (p.Gly2046=)
|
|
|
NM_000094.4(COL7A1):c.6140G>A (p.Arg2047Lys)
|
rs2107674107
|
|
NM_000094.4(COL7A1):c.6142G>T (p.Ala2048Ser)
|
|
|
NM_000094.4(COL7A1):c.6144T>C (p.Ala2048=)
|
|
|
NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)
|
rs1410793870
|
|
NM_000094.4(COL7A1):c.6146G>T (p.Gly2049Val)
|
|
|
NM_000094.4(COL7A1):c.614G>A (p.Arg205Lys)
|
|
|
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.6168G>T (p.Arg2056Ser)
|
|
|
NM_000094.4(COL7A1):c.6171A>G (p.Pro2057=)
|
rs763064296
|
|
NM_000094.4(COL7A1):c.6173G>A (p.Gly2058Glu)
|
|
|
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.6181-1G>T
|
|
|
NM_000094.4(COL7A1):c.6181-4del
|
rs2044209233
|
|
NM_000094.4(COL7A1):c.6181-9G>A
|
rs2107672973
|
|
NM_000094.4(COL7A1):c.6182G>A (p.Gly2061Glu)
|
|
|
NM_000094.4(COL7A1):c.6182G>T (p.Gly2061Val)
|
rs2044208810
|
|
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.6190G>T (p.Gly2064Ter)
|
|
|
NM_000094.4(COL7A1):c.6191G>A (p.Gly2064Glu)
|
rs2107672816
|
|
NM_000094.4(COL7A1):c.6192A>G (p.Gly2064=)
|
rs2107672806
|
|
NM_000094.4(COL7A1):c.6193_6196del (p.Glu2065fs)
|
rs2107672777
|
|
NM_000094.4(COL7A1):c.61G>A (p.Val21Met)
|
|
|
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+1G>A
|
rs2107672698
|
|
NM_000094.4(COL7A1):c.6216+20G>A
|
|
|
NM_000094.4(COL7A1):c.6216+5G>T
|
rs2044206978
|
|
NM_000094.4(COL7A1):c.6216+7dup
|
|
|
NM_000094.4(COL7A1):c.6216G>A (p.Gln2072=)
|
|
|
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.6217-2A>G
|
|
|
NM_000094.4(COL7A1):c.6217-2del
|
rs2044200662
|
|
NM_000094.4(COL7A1):c.6217-3C>T
|
|
|
NM_000094.4(COL7A1):c.6217-8T>C
|
rs2107672216
|
|
NM_000094.4(COL7A1):c.6218G>A (p.Gly2073Asp)
|
|
|
NM_000094.4(COL7A1):c.6226G>A (p.Gly2076Ser)
|
|
|
NM_000094.4(COL7A1):c.622C>T (p.Leu208=)
|
|
|
NM_000094.4(COL7A1):c.6232C>T (p.Pro2078Ser)
|
|
|
NM_000094.4(COL7A1):c.6234T>C (p.Pro2078=)
|
rs762651622
|
|
NM_000094.4(COL7A1):c.6245G>T (p.Gly2082Val)
|
rs2107671899
|
|
NM_000094.4(COL7A1):c.6245del (p.Gly2082fs)
|
rs2044198408
|
|
NM_000094.4(COL7A1):c.6248C>T (p.Thr2083Ile)
|
|
|
NM_000094.4(COL7A1):c.6264A>G (p.Gly2088=)
|
|
|
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.6266C>T (p.Pro2089Leu)
|
|
|
NM_000094.4(COL7A1):c.6267C>A (p.Pro2089=)
|
rs2044195716
|
|
NM_000094.4(COL7A1):c.6269del (p.Pro2090fs)
|
rs2044195570
|
|
NM_000094.4(COL7A1):c.626C>T (p.Pro209Leu)
|
|
|
NM_000094.4(COL7A1):c.6270T>C (p.Pro2090=)
|
|
|
NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=)
|
rs2044195363
|
|
NM_000094.4(COL7A1):c.6270del (p.Gly2091fs)
|
|
|
NM_000094.4(COL7A1):c.6274C>T (p.Pro2092Ser)
|
|
|
NM_000094.4(COL7A1):c.6275C>T (p.Pro2092Leu)
|
|
|
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+1G>T
|
|
|
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.6286G>A (p.Val2096Met)
|
rs749388962
|
|
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.6311C>T (p.Ser2104Phe)
|
rs2107670348
|
|
NM_000094.4(COL7A1):c.6311_6312del (p.Ser2104fs)
|
|
|
NM_000094.4(COL7A1):c.6319C>T (p.Gln2107Ter)
|
rs2107670284
|
|
NM_000094.4(COL7A1):c.6323G>A (p.Gly2108Glu)
|
|
|
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.6329dup (p.Gly2111fs)
|
|
|
NM_000094.4(COL7A1):c.6331G>A (p.Gly2111Arg)
|
|
|
NM_000094.4(COL7A1):c.6341G>C (p.Gly2114Ala)
|
|
|
NM_000094.4(COL7A1):c.6341G>T (p.Gly2114Val)
|
rs2044175577
|
|
NM_000094.4(COL7A1):c.6341_6343delinsTT (p.Gly2114fs)
|
|
|
NM_000094.4(COL7A1):c.6343del (p.Ala2115fs)
|
rs2107670113
|
|
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.6349-2del
|
rs2107669831
|
|
NM_000094.4(COL7A1):c.6354G>A (p.Glu2118=)
|
|
|
NM_000094.4(COL7A1):c.6356C>T (p.Pro2119Leu)
|
|
|
NM_000094.4(COL7A1):c.6360C>A (p.Gly2120=)
|
rs2107669756
|
|
NM_000094.4(COL7A1):c.6361A>G (p.Ser2121Gly)
|
|
|
NM_000094.4(COL7A1):c.6365A>G (p.Asn2122Ser)
|
|
|
NM_000094.4(COL7A1):c.6375A>G (p.Gln2125=)
|
rs2107669673
|
|
NM_000094.4(COL7A1):c.6391A>G (p.Arg2131Gly)
|
|
|
NM_000094.4(COL7A1):c.6393+10C>G
|
|
|
NM_000094.4(COL7A1):c.6393+1G>C
|
rs2107669589
|
|
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.6394-1G>C
|
rs2107668943
|
|
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.639del (p.Arg214fs)
|
rs2045831941
|
|
NM_000094.4(COL7A1):c.6408C>G (p.Ile2136Met)
|
|
|
NM_000094.4(COL7A1):c.6408C>T (p.Ile2136=)
|
|
|
NM_000094.4(COL7A1):c.6413G>A (p.Gly2138Glu)
|
|
|
NM_000094.4(COL7A1):c.6424G>A (p.Glu2142Lys)
|
|
|
NM_000094.4(COL7A1):c.6441T>G (p.Gly2147=)
|
rs2044155068
|
|
NM_000094.4(COL7A1):c.6448G>A (p.Gly2150Ser)
|
|
|
NM_000094.4(COL7A1):c.6449G>A (p.Gly2150Asp)
|
rs2107668597
|
|
NM_000094.4(COL7A1):c.6449del (p.Gly2150fs)
|
|
|
NM_000094.4(COL7A1):c.6453C>A (p.Asn2151Lys)
|
rs747844780
|
|
NM_000094.4(COL7A1):c.6453C>T (p.Asn2151=)
|
|
|
NM_000094.4(COL7A1):c.6454C>A (p.Pro2152Thr)
|
|
|
NM_000094.4(COL7A1):c.6454C>T (p.Pro2152Ser)
|
rs780806207
|
|
NM_000094.4(COL7A1):c.6455C>T (p.Pro2152Leu)
|
|
|
NM_000094.4(COL7A1):c.6456+16A>C
|
|
|
NM_000094.4(COL7A1):c.6456+16A>G
|
|
|
NM_000094.4(COL7A1):c.6456+1G>C
|
rs2107668482
|
|
NM_000094.4(COL7A1):c.6456+20C>A
|
|
|
NM_000094.4(COL7A1):c.6456+20C>T
|
|
|
NM_000094.4(COL7A1):c.6456+2T>C
|
|
|
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.6458G>A (p.Gly2153Asp)
|
|
|
NM_000094.4(COL7A1):c.6461T>G (p.Leu2154Arg)
|
|
|
NM_000094.4(COL7A1):c.6463C>T (p.Pro2155Ser)
|
|
|
NM_000094.4(COL7A1):c.6464C>T (p.Pro2155Leu)
|
rs2044139188
|
|
NM_000094.4(COL7A1):c.6468A>G (p.Gly2156=)
|
|
|
NM_000094.4(COL7A1):c.6469G>C (p.Glu2157Gln)
|
|
|
NM_000094.4(COL7A1):c.6472C>T (p.Arg2158Cys)
|
rs745851807
|
|
NM_000094.4(COL7A1):c.6476G>T (p.Gly2159Val)
|
|
|
NM_000094.4(COL7A1):c.6489T>C (p.Pro2163=)
|
|
|
NM_000094.4(COL7A1):c.649A>G (p.Thr217Ala)
|
|
|
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.6502-2A>G
|
rs773265287
|
|
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.6508C>T (p.Gln2170Ter)
|
rs1461012195
|
|
NM_000094.4(COL7A1):c.6509A>C (p.Gln2170Pro)
|
|
|
NM_000094.4(COL7A1):c.650C>T (p.Thr217Met)
|
|
|
NM_000094.4(COL7A1):c.6515C>T (p.Pro2172Leu)
|
|
|
NM_000094.4(COL7A1):c.6517A>T (p.Arg2173Ter)
|
rs1437740725
|
|
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.6527C>G (p.Pro2176Arg)
|
|
|
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)
|
rs768128088
|
|
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+1G>A
|
|
|
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.6538-2A>C
|
rs2044089924
|
|
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.6573G>A (p.Pro2191=)
|
|
|
NM_000094.4(COL7A1):c.6574-12C>T
|
|
|
NM_000094.4(COL7A1):c.6574-4C>T
|
|
|
NM_000094.4(COL7A1):c.6574-7del
|
rs2107663421
|
|
NM_000094.4(COL7A1):c.6576T>A (p.Gly2192=)
|
|
|
NM_000094.4(COL7A1):c.6582T>G (p.Ala2194=)
|
rs1340647253
|
|
NM_000094.4(COL7A1):c.6587C>G (p.Pro2196Arg)
|
rs2107663318
|
|
NM_000094.4(COL7A1):c.6588T>C (p.Pro2196=)
|
rs1285181112
|
|
NM_000094.4(COL7A1):c.6590C>T (p.Ala2197Val)
|
|
|
NM_000094.4(COL7A1):c.6595C>T (p.Pro2199Ser)
|
|
|
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.6607del (p.Ser2203fs)
|
|
|
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.6619-2A>T
|
|
|
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.6637G>A (p.Gly2213Arg)
|
|
|
NM_000094.4(COL7A1):c.6639A>G (p.Gly2213=)
|
|
|
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.6647G>A (p.Gly2216Glu)
|
rs781720055
|
|
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+1G>A
|
|
|
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.6656dup (p.Thr2220fs)
|
rs757406252
|
|
NM_000094.4(COL7A1):c.6660T>G (p.Thr2220=)
|
|
|
NM_000094.4(COL7A1):c.6662G>A (p.Gly2221Glu)
|
|
|
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.6691C>A (p.Pro2231Thr)
|
rs369838476
|
|
NM_000094.4(COL7A1):c.6693C>G (p.Pro2231=)
|
|
|
NM_000094.4(COL7A1):c.6696C>T (p.Pro2232=)
|
rs61729223
|
|
NM_000094.4(COL7A1):c.6696dup (p.Gly2233fs)
|
rs749256529
|
|
NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser)
|
rs2107661505
|
|
NM_000094.4(COL7A1):c.669T>G (p.Pro223=)
|
|
|
NM_000094.4(COL7A1):c.6700C>T (p.Pro2234Ser)
|
|
|
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.6713T>C (p.Val2238Ala)
|
|
|
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.671T>C (p.Val224Ala)
|
|
|
NM_000094.4(COL7A1):c.6720A>C (p.Pro2240=)
|
|
|
NM_000094.4(COL7A1):c.6721C>T (p.Gln2241Ter)
|
|
|
NM_000094.4(COL7A1):c.6727T>G (p.Ser2243Ala)
|
|
|
NM_000094.4(COL7A1):c.6727del (p.Ser2243fs)
|
|
|
NM_000094.4(COL7A1):c.6745C>T (p.Gln2249Ter)
|
rs769294243
|
|
NM_000094.4(COL7A1):c.6750+10G>A
|
|
|
NM_000094.4(COL7A1):c.6750+1G>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.6751-1G>C
|
|
|
NM_000094.4(COL7A1):c.6751-1G>T
|
|
|
NM_000094.4(COL7A1):c.6751-2_6751-1del
|
rs760460054
|
|
NM_000094.4(COL7A1):c.6751-3C>T
|
|
|
NM_000094.4(COL7A1):c.6751-8C>T
|
|
|
NM_000094.4(COL7A1):c.6751G>C (p.Gly2251Arg)
|
rs765034336
|
|
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.6761G>A (p.Gly2254Glu)
|
rs2107659875
|
|
NM_000094.4(COL7A1):c.676C>T (p.Arg226Ter)
|
rs753819164
|
|
NM_000094.4(COL7A1):c.6770G>C (p.Gly2257Ala)
|
rs1057517969
|
|
NM_000094.4(COL7A1):c.6772G>A (p.Ala2258Thr)
|
|
|
NM_000094.4(COL7A1):c.677G>A (p.Arg226Gln)
|
|
|
NM_000094.4(COL7A1):c.6788G>T (p.Gly2263Val)
|
rs1405839597
|
|
NM_000094.4(COL7A1):c.6789T>C (p.Gly2263=)
|
|
|
NM_000094.4(COL7A1):c.6800A>G (p.Lys2267Arg)
|
rs574558938
|
|
NM_000094.4(COL7A1):c.6815G>C (p.Gly2272Ala)
|
|
|
NM_000094.4(COL7A1):c.6816G>A (p.Gly2272=)
|
rs2107659496
|
|
NM_000094.4(COL7A1):c.6819C>A (p.Ser2273Arg)
|
|
|
NM_000094.4(COL7A1):c.682+10T>C
|
rs759858956
|
|
NM_000094.4(COL7A1):c.682+12C>T
|
|
|
NM_000094.4(COL7A1):c.682+8C>T
|
rs1360883255
|
|
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.683-10G>A
|
rs375977644
|
|
NM_000094.4(COL7A1):c.683-11C>T
|
|
|
NM_000094.4(COL7A1):c.683-13C>T
|
|
|
NM_000094.4(COL7A1):c.683-15A>C
|
|
|
NM_000094.4(COL7A1):c.683-8A>C
|
rs113167762
|
|
NM_000094.4(COL7A1):c.6831+10C>T
|
|
|
NM_000094.4(COL7A1):c.6831+19G>A
|
|
|
NM_000094.4(COL7A1):c.6831+9T>C
|
rs1299569165
|
|
NM_000094.4(COL7A1):c.6832-11C>T
|
|
|
NM_000094.4(COL7A1):c.6832-12G>T
|
rs2044021325
|
|
NM_000094.4(COL7A1):c.6832-15G>A
|
|
|
NM_000094.4(COL7A1):c.6832-1G>T
|
rs2107658703
|
|
NM_000094.4(COL7A1):c.6832-3T>A
|
rs1553853065
|
|
NM_000094.4(COL7A1):c.6832-3T>C
|
rs1553853065
|
|
NM_000094.4(COL7A1):c.6832-6C>A
|
|
|
NM_000094.4(COL7A1):c.6833G>A (p.Gly2278Glu)
|
|
|
NM_000094.4(COL7A1):c.6835_6846del (p.Ser2279_Leu2282del)
|
|
|
NM_000094.4(COL7A1):c.6837A>T (p.Ser2279=)
|
|
|
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.6846G>C (p.Leu2282=)
|
rs1355509467
|
|
NM_000094.4(COL7A1):c.684G>A (p.Pro228=)
|
|
|
NM_000094.4(COL7A1):c.684G>T (p.Pro228=)
|
rs752563213
|
|
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg)
|
rs121912839
|
|
NM_000094.4(COL7A1):c.685G>C (p.Asp229His)
|
|
|
NM_000094.4(COL7A1):c.6864_6879del (p.Lys2289fs)
|
rs1553853022
|
|
NM_000094.4(COL7A1):c.6882C>T (p.Pro2294=)
|
rs2107658366
|
|
NM_000094.4(COL7A1):c.6888G>A (p.Gly2296=)
|
|
|
NM_000094.4(COL7A1):c.6891C>T (p.Ala2297=)
|
|
|
NM_000094.4(COL7A1):c.6894T>C (p.Pro2298=)
|
|
|
NM_000094.4(COL7A1):c.6899_6900+6del
|
|
|
NM_000094.4(COL7A1):c.6900+10G>A
|
|
|
NM_000094.4(COL7A1):c.6900+10G>C
|
|
|
NM_000094.4(COL7A1):c.6900+12C>G
|
rs1272693226
|
|
NM_000094.4(COL7A1):c.6900+13C>T
|
|
|
NM_000094.4(COL7A1):c.6900+16G>A
|
|
|
NM_000094.4(COL7A1):c.6900+18C>G
|
|
|
NM_000094.4(COL7A1):c.6900+18C>T
|
rs1304433976
|
|
NM_000094.4(COL7A1):c.6900+3G>A
|
|
|
NM_000094.4(COL7A1):c.6900+4A>G
|
rs1057518706
|
|
NM_000094.4(COL7A1):c.6901-13G>A
|
|
|
NM_000094.4(COL7A1):c.6901-14A>C
|
|
|
NM_000094.4(COL7A1):c.6901-14_6901-13insCCCACAG
|
|
|
NM_000094.4(COL7A1):c.6901-5_6903del
|
rs2107657268
|
|
NM_000094.4(COL7A1):c.6901-8C>T
|
rs1476352501
|
|
NM_000094.4(COL7A1):c.6912G>A (p.Gly2304=)
|
|
|
NM_000094.4(COL7A1):c.6918T>G (p.Pro2306=)
|
rs752128750
|
|
NM_000094.4(COL7A1):c.692C>T (p.Ser231Leu)
|
|
|
NM_000094.4(COL7A1):c.6930A>G (p.Gly2310=)
|
|
|
NM_000094.4(COL7A1):c.6932A>G (p.Glu2311Gly)
|
|
|
NM_000094.4(COL7A1):c.6936+15G>A
|
|
|
NM_000094.4(COL7A1):c.6936+18T>C
|
|
|
NM_000094.4(COL7A1):c.6936+1G>C
|
|
|
NM_000094.4(COL7A1):c.6936+20C>A
|
|
|
NM_000094.4(COL7A1):c.6936+9G>A
|
rs2043997550
|
|
NM_000094.4(COL7A1):c.6936G>T (p.Lys2312Asn)
|
rs933384009
|
|
NM_000094.4(COL7A1):c.6937-10C>A
|
rs369674282
|
|
NM_000094.4(COL7A1):c.6937-10C>G
|
|
|
NM_000094.4(COL7A1):c.6937-12C>T
|
|
|
NM_000094.4(COL7A1):c.6937-12_6937-11dup
|
rs2043989608
|
|
NM_000094.4(COL7A1):c.6937-12dup
|
rs2043989608
|
|
NM_000094.4(COL7A1):c.6937-9C>T
|
|
|
NM_000094.4(COL7A1):c.693G>A (p.Ser231=)
|
rs186652663
|
|
NM_000094.4(COL7A1):c.693G>C (p.Ser231=)
|
rs186652663
|
|
NM_000094.4(COL7A1):c.6945T>G (p.Pro2315=)
|
|
|
NM_000094.4(COL7A1):c.6949G>A (p.Gly2317Ser)
|
|
|
NM_000094.4(COL7A1):c.6951C>A (p.Gly2317=)
|
|
|
NM_000094.4(COL7A1):c.6951C>T (p.Gly2317=)
|
rs2107656316
|
|
NM_000094.4(COL7A1):c.6966G>T (p.Leu2322=)
|
rs2107656267
|
|
NM_000094.4(COL7A1):c.6972T>G (p.Gly2324=)
|
|
|
NM_000094.4(COL7A1):c.6975G>A (p.Glu2325=)
|
|
|
NM_000094.4(COL7A1):c.6976C>A (p.Pro2326Thr)
|
|
|
NM_000094.4(COL7A1):c.6977C>T (p.Pro2326Leu)
|
|
|
NM_000094.4(COL7A1):c.6978+17T>G
|
|
|
NM_000094.4(COL7A1):c.6978+6T>C
|
rs1223788979
|
|
NM_000094.4(COL7A1):c.6978+9G>A
|
|
|
NM_000094.4(COL7A1):c.6978G>A (p.Pro2326=)
|
|
|
NM_000094.4(COL7A1):c.6979-10_6979-9del
|
|
|
NM_000094.4(COL7A1):c.6979-15G>C
|
|
|
NM_000094.4(COL7A1):c.6979-15_6979-14delinsTT
|
rs2107655240
|
|
NM_000094.4(COL7A1):c.6979-19T>C
|
rs2107655286
|
|
NM_000094.4(COL7A1):c.6979-9dup
|
rs775971080
|
|
NM_000094.4(COL7A1):c.6988G>A (p.Gly2330Ser)
|
|
|
NM_000094.4(COL7A1):c.7001T>A (p.Leu2334Gln)
|
|
|
NM_000094.4(COL7A1):c.7002G>A (p.Leu2334=)
|
rs776372390
|
|
NM_000094.4(COL7A1):c.7002G>C (p.Leu2334=)
|
|
|
NM_000094.4(COL7A1):c.7007G>A (p.Gly2336Glu)
|
rs2107655052
|
|
NM_000094.4(COL7A1):c.7011G>A (p.Pro2337=)
|
rs781739537
|
|
NM_000094.4(COL7A1):c.7011G>T (p.Pro2337=)
|
rs781739537
|
|
NM_000094.4(COL7A1):c.7013G>A (p.Arg2338Gln)
|
rs201011691
|
|
NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=)
|
rs1362309822
|
|
NM_000094.4(COL7A1):c.7018G>A (p.Glu2340Lys)
|
|
|
NM_000094.4(COL7A1):c.7023+10G>A
|
rs1293030603
|
|
NM_000094.4(COL7A1):c.7023+12_7023+14del
|
|
|
NM_000094.4(COL7A1):c.7023+15C>T
|
|
|
NM_000094.4(COL7A1):c.7023+17C>A
|
|
|
NM_000094.4(COL7A1):c.7023+17C>T
|
|
|
NM_000094.4(COL7A1):c.7023+1G>A
|
rs2043966286
|
|
NM_000094.4(COL7A1):c.7023G>A (p.Lys2341=)
|
|
|
NM_000094.4(COL7A1):c.7024-11A>G
|
|
|
NM_000094.4(COL7A1):c.7024-14G>T
|
|
|
NM_000094.4(COL7A1):c.7024-18A>G
|
|
|
NM_000094.4(COL7A1):c.7024-8C>T
|
|
|
NM_000094.4(COL7A1):c.7029A>G (p.Glu2343=)
|
rs1185578654
|
|
NM_000094.4(COL7A1):c.7035C>T (p.Gly2345=)
|
|
|
NM_000094.4(COL7A1):c.7045G>A (p.Glu2349Lys)
|
|
|
NM_000094.4(COL7A1):c.7047G>A (p.Glu2349=)
|
rs2107654257
|
|
NM_000094.4(COL7A1):c.7056C>T (p.Asp2352=)
|
|
|
NM_000094.4(COL7A1):c.705A>G (p.Pro235=)
|
rs766659965
|
|
NM_000094.4(COL7A1):c.7061G>A (p.Gly2354Glu)
|
rs2107654190
|
|
NM_000094.4(COL7A1):c.7068+12G>T
|
|
|
NM_000094.4(COL7A1):c.7068+12dup
|
|
|
NM_000094.4(COL7A1):c.7068+13C>T
|
|
|
NM_000094.4(COL7A1):c.7068+16A>G
|
|
|
NM_000094.4(COL7A1):c.7068+2T>C
|
rs2107654130
|
|
NM_000094.4(COL7A1):c.7068+2T>G
|
rs2107654130
|
|
NM_000094.4(COL7A1):c.7068+2_7068+3del
|
rs2107654116
|
|
NM_000094.4(COL7A1):c.7069-10G>T
|
rs1168472401
|
|
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.7070G>A (p.Gly2357Asp)
|
|
|
NM_000094.4(COL7A1):c.7079G>C (p.Gly2360Ala)
|
|
|
NM_000094.4(COL7A1):c.7080G>A (p.Gly2360=)
|
rs768904830
|
|
NM_000094.4(COL7A1):c.7080G>T (p.Gly2360=)
|
|
|
NM_000094.4(COL7A1):c.7084C>T (p.Pro2362Ser)
|
|
|
NM_000094.4(COL7A1):c.7086A>G (p.Pro2362=)
|
|
|
NM_000094.4(COL7A1):c.7090C>A (p.Pro2364Thr)
|
rs113813395
|
|
NM_000094.4(COL7A1):c.7090C>T (p.Pro2364Ser)
|
|
|
NM_000094.4(COL7A1):c.7097G>C (p.Gly2366Ala)
|
|
|
NM_000094.4(COL7A1):c.7104+10C>T
|
|
|
NM_000094.4(COL7A1):c.7104+12C>T
|
|
|
NM_000094.4(COL7A1):c.7104+14G>A
|
|
|
NM_000094.4(COL7A1):c.7104+18G>A
|
|
|
NM_000094.4(COL7A1):c.7104+19G>A
|
|
|
NM_000094.4(COL7A1):c.7104+19G>C
|
|
|
NM_000094.4(COL7A1):c.7104+3A>T
|
rs749077987
|
|
NM_000094.4(COL7A1):c.7104+5G>A
|
rs2043898537
|
|
NM_000094.4(COL7A1):c.7104+7G>A
|
|
|
NM_000094.4(COL7A1):c.7104+8T>C
|
|
|
NM_000094.4(COL7A1):c.7105-14T>A
|
|
|
NM_000094.4(COL7A1):c.7105-14T>G
|
|
|
NM_000094.4(COL7A1):c.7105-15del
|
|
|
NM_000094.4(COL7A1):c.7105-20G>A
|
|
|
NM_000094.4(COL7A1):c.7105-7C>A
|
|
|
NM_000094.4(COL7A1):c.7105-8C>T
|
rs2107650163
|
|
NM_000094.4(COL7A1):c.7105G>A (p.Gly2369Ser)
|
rs2107650142
|
|
NM_000094.4(COL7A1):c.7107T>C (p.Gly2369=)
|
|
|
NM_000094.4(COL7A1):c.7110C>T (p.Asp2370=)
|
rs2107650116
|
|
NM_000094.4(COL7A1):c.7114G>T (p.Gly2372Ter)
|
|
|
NM_000094.4(COL7A1):c.7115G>T (p.Gly2372Val)
|
|
|
NM_000094.4(COL7A1):c.7116A>G (p.Gly2372=)
|
|
|
NM_000094.4(COL7A1):c.711C>G (p.Asp237Glu)
|
|
|
NM_000094.4(COL7A1):c.7127del (p.Pro2376fs)
|
|
|
NM_000094.4(COL7A1):c.7129G>A (p.Gly2377Ser)
|
|
|
NM_000094.4(COL7A1):c.7131C>T (p.Gly2377=)
|
|
|
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.7151C>T (p.Pro2384Leu)
|
|
|
NM_000094.4(COL7A1):c.7152T>C (p.Pro2384=)
|
rs2107649823
|
|
NM_000094.4(COL7A1):c.7153C>T (p.Pro2385Ser)
|
|
|
NM_000094.4(COL7A1):c.7154del (p.Pro2385fs)
|
rs909040709
|
|
NM_000094.4(COL7A1):c.7164+12C>A
|
|
|
NM_000094.4(COL7A1):c.7164+13C>G
|
|
|
NM_000094.4(COL7A1):c.7164+15del
|
|
|
NM_000094.4(COL7A1):c.7164+1G>A
|
|
|
NM_000094.4(COL7A1):c.7164+3A>G
|
|
|
NM_000094.4(COL7A1):c.7164G>A (p.Lys2388=)
|
|
|
NM_000094.4(COL7A1):c.7165-13G>C
|
|
|
NM_000094.4(COL7A1):c.7165-15C>T
|
|
|
NM_000094.4(COL7A1):c.7165-18T>A
|
|
|
NM_000094.4(COL7A1):c.7165-7A>G
|
|
|
NM_000094.4(COL7A1):c.7167A>G (p.Gly2389=)
|
|
|
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.7185C>G (p.Gly2395=)
|
|
|
NM_000094.4(COL7A1):c.7188G>T (p.Leu2396=)
|
|
|
NM_000094.4(COL7A1):c.7190C>T (p.Pro2397Leu)
|
|
|
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=)
|
rs34360255
|
|
NM_000094.4(COL7A1):c.7191C>T (p.Pro2397=)
|
rs34360255
|
|
NM_000094.4(COL7A1):c.7197T>C (p.Ala2399=)
|
|
|
NM_000094.4(COL7A1):c.71A>G (p.Gln24Arg)
|
|
|
NM_000094.4(COL7A1):c.7202G>C (p.Gly2401Ala)
|
rs1487726311
|
|
NM_000094.4(COL7A1):c.7205T>G (p.Val2402Gly)
|
|
|
NM_000094.4(COL7A1):c.7205TTG[1] (p.Val2403del)
|
|
|
NM_000094.4(COL7A1):c.720G>C (p.Leu240=)
|
rs181486713
|
|
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.7218G>A (p.Pro2406=)
|
|
|
NM_000094.4(COL7A1):c.7223A>G (p.Gln2408Arg)
|
|
|
NM_000094.4(COL7A1):c.7226C>T (p.Thr2409Ile)
|
|
|
NM_000094.4(COL7A1):c.7230C>T (p.Gly2410=)
|
rs2107648749
|
|
NM_000094.4(COL7A1):c.7235G>T (p.Arg2412Leu)
|
rs907836697
|
|
NM_000094.4(COL7A1):c.7236A>G (p.Arg2412=)
|
rs2107648697
|
|
NM_000094.4(COL7A1):c.7242G>A (p.Glu2414=)
|
|
|
NM_000094.4(COL7A1):c.7244dup (p.Met2415fs)
|
rs1336686272
|
|
NM_000094.4(COL7A1):c.7249C>T (p.Gln2417Ter)
|
rs983476178
|
|
NM_000094.4(COL7A1):c.724G>A (p.Glu242Lys)
|
rs549872555
|
|
NM_000094.4(COL7A1):c.7256G>T (p.Gly2419Val)
|
|
|
NM_000094.4(COL7A1):c.7266_7272+6del
|
|
|
NM_000094.4(COL7A1):c.7270C>T (p.Arg2424Trp)
|
rs1189942401
|
|
NM_000094.4(COL7A1):c.7271G>A (p.Arg2424Gln)
|
|
|
NM_000094.4(COL7A1):c.7272+12G>A
|
|
|
NM_000094.4(COL7A1):c.7272+15A>G
|
|
|
NM_000094.4(COL7A1):c.7272+5G>A
|
rs2043871373
|
|
NM_000094.4(COL7A1):c.7272+7_7272+13del
|
rs2107648450
|
|
NM_000094.4(COL7A1):c.7272+8G>A
|
rs1483353281
|
|
NM_000094.4(COL7A1):c.7272+8G>T
|
rs1483353281
|
|
NM_000094.4(COL7A1):c.7273-14del
|
|
|
NM_000094.4(COL7A1):c.7273-18G>T
|
|
|
NM_000094.4(COL7A1):c.7273-6T>C
|
rs1325969412
|
|
NM_000094.4(COL7A1):c.7273-7C>G
|
|
|
NM_000094.4(COL7A1):c.7273-8T>G
|
|
|
NM_000094.4(COL7A1):c.7278G>T (p.Leu2426=)
|
|
|
NM_000094.4(COL7A1):c.7280C>A (p.Ala2427Glu)
|
|
|
NM_000094.4(COL7A1):c.7289del (p.Pro2430fs)
|
rs1330515772
|
|
NM_000094.4(COL7A1):c.7289dup (p.Gly2431fs)
|
rs1330515772
|
|
NM_000094.4(COL7A1):c.7295G>A (p.Arg2432Lys)
|
|
|
NM_000094.4(COL7A1):c.72G>A (p.Gln24=)
|
|
|
NM_000094.4(COL7A1):c.7304dup (p.Gly2437fs)
|
|
|
NM_000094.4(COL7A1):c.7305C>T (p.Ile2435=)
|
|
|
NM_000094.4(COL7A1):c.7309G>A (p.Gly2437Arg)
|
|
|
NM_000094.4(COL7A1):c.7313C>A (p.Pro2438His)
|
|
|
NM_000094.4(COL7A1):c.7314C>T (p.Pro2438=)
|
rs1225671785
|
|
NM_000094.4(COL7A1):c.7320G>A (p.Gly2440=)
|
rs1437556505
|
|
NM_000094.4(COL7A1):c.7320G>T (p.Gly2440=)
|
|
|
NM_000094.4(COL7A1):c.7323A>G (p.Pro2441=)
|
|
|
NM_000094.4(COL7A1):c.732C>T (p.Ser244=)
|
rs374009584
|
|
NM_000094.4(COL7A1):c.7335G>C (p.Pro2445=)
|
|
|
NM_000094.4(COL7A1):c.7344+12T>A
|
|
|
NM_000094.4(COL7A1):c.7344+15C>T
|
|
|
NM_000094.4(COL7A1):c.7344+17T>A
|
|
|
NM_000094.4(COL7A1):c.7344+18A>G
|
|
|
NM_000094.4(COL7A1):c.7344+1G>C
|
rs754469339
|
|
NM_000094.4(COL7A1):c.7344+2T>C
|
|
|
NM_000094.4(COL7A1):c.7344+9A>G
|
|
|
NM_000094.4(COL7A1):c.7345-10T>C
|
|
|
NM_000094.4(COL7A1):c.7345-12T>C
|
|
|
NM_000094.4(COL7A1):c.7345-14_7345-11del
|
|
|
NM_000094.4(COL7A1):c.7345-16T>A
|
|
|
NM_000094.4(COL7A1):c.7345-17C>A
|
|
|
NM_000094.4(COL7A1):c.7345-17C>G
|
rs2043843255
|
|
NM_000094.4(COL7A1):c.7345-17C>T
|
|
|
NM_000094.4(COL7A1):c.7345-1G>A
|
rs1229102944
|
|
NM_000094.4(COL7A1):c.7345-20C>A
|
|
|
NM_000094.4(COL7A1):c.7345-4A>C
|
rs1215731374
|
|
NM_000094.4(COL7A1):c.7345-5T>C
|
rs2043841534
|
|
NM_000094.4(COL7A1):c.7349del (p.Pro2450fs)
|
rs1575425011
|
|
NM_000094.4(COL7A1):c.734G>T (p.Ser245Ile)
|
|
|
NM_000094.4(COL7A1):c.7350A>G (p.Pro2450=)
|
|
|
NM_000094.4(COL7A1):c.7359C>T (p.Ala2453=)
|
|
|
NM_000094.4(COL7A1):c.7362T>C (p.Ser2454=)
|
rs1431384871
|
|
NM_000094.4(COL7A1):c.7363G>A (p.Gly2455Arg)
|
|
|
NM_000094.4(COL7A1):c.7371A>G (p.Lys2457=)
|
|
|
NM_000094.4(COL7A1):c.7378A>C (p.Lys2460Gln)
|
|
|
NM_000094.4(COL7A1):c.7380+11C>T
|
|
|
NM_000094.4(COL7A1):c.7380+19G>A
|
|
|
NM_000094.4(COL7A1):c.7380+19G>C
|
|
|
NM_000094.4(COL7A1):c.7381-12G>A
|
|
|
NM_000094.4(COL7A1):c.7381-12G>C
|
|
|
NM_000094.4(COL7A1):c.7381-14C>G
|
|
|
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.7389T>G (p.Pro2463=)
|
|
|
NM_000094.4(COL7A1):c.7392A>T (p.Gly2464=)
|
|
|
NM_000094.4(COL7A1):c.7401G>A (p.Leu2467=)
|
rs2107645624
|
|
NM_000094.4(COL7A1):c.7403C>G (p.Pro2468Arg)
|
|
|
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.7417G>T (p.Glu2473Ter)
|
|
|
NM_000094.4(COL7A1):c.741C>G (p.Ser247=)
|
|
|
NM_000094.4(COL7A1):c.7428G>A (p.Glu2476=)
|
|
|
NM_000094.4(COL7A1):c.7432G>C (p.Gly2478Arg)
|
|
|
NM_000094.4(COL7A1):c.7435A>G (p.Ile2479Val)
|
|
|
NM_000094.4(COL7A1):c.7438C>A (p.Arg2480=)
|
|
|
NM_000094.4(COL7A1):c.7438C>T (p.Arg2480Trp)
|
|
|
NM_000094.4(COL7A1):c.7439G>A (p.Arg2480Gln)
|
|
|
NM_000094.4(COL7A1):c.7440+11C>G
|
|
|
NM_000094.4(COL7A1):c.7440+13T>C
|
rs1289140891
|
|
NM_000094.4(COL7A1):c.7440+1G>A
|
|
|
NM_000094.4(COL7A1):c.7440+20C>T
|
|
|
NM_000094.4(COL7A1):c.7440+5G>A
|
|
|
NM_000094.4(COL7A1):c.7440+7A>T
|
rs2107645388
|
|
NM_000094.4(COL7A1):c.7441-19A>G
|
|
|
NM_000094.4(COL7A1):c.7441-4C>T
|
rs1575424146
|
|
NM_000094.4(COL7A1):c.7441-7C>T
|
rs2107644958
|
|
NM_000094.4(COL7A1):c.7449T>C (p.Asp2483=)
|
rs2107644910
|
|
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.7455C>T (p.Arg2485=)
|
|
|
NM_000094.4(COL7A1):c.7457C>G (p.Pro2486Arg)
|
|
|
NM_000094.4(COL7A1):c.7461C>T (p.Gly2487=)
|
|
|
NM_000094.4(COL7A1):c.7464G>A (p.Gln2488=)
|
rs1575424040
|
|
NM_000094.4(COL7A1):c.7465G>T (p.Glu2489Ter)
|
|
|
NM_000094.4(COL7A1):c.7466A>C (p.Glu2489Ala)
|
rs2107644797
|
|
NM_000094.4(COL7A1):c.7467G>A (p.Glu2489=)
|
|
|
NM_000094.4(COL7A1):c.7473C>G (p.Pro2491=)
|
rs1484220256
|
|
NM_000094.4(COL7A1):c.7474C>G (p.Arg2492Gly)
|
|
|
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter)
|
rs765529435
|
|
NM_000094.4(COL7A1):c.7475G>A (p.Arg2492Gln)
|
|
|
NM_000094.4(COL7A1):c.7482C>T (p.Leu2494=)
|
rs2107644736
|
|
NM_000094.4(COL7A1):c.7485+12T>A
|
|
|
NM_000094.4(COL7A1):c.7485+14G>A
|
|
|
NM_000094.4(COL7A1):c.7486-11del
|
|
|
NM_000094.4(COL7A1):c.7486-12_7486-10del
|
rs2043804038
|
|
NM_000094.4(COL7A1):c.7486-16_7486-14del
|
|
|
NM_000094.4(COL7A1):c.7486-20G>A
|
rs769328539
|
|
NM_000094.4(COL7A1):c.7486-4A>T
|
rs2107643857
|
|
NM_000094.4(COL7A1):c.7488G>A (p.Gly2496=)
|
rs2107643806
|
|
NM_000094.4(COL7A1):c.7488G>C (p.Gly2496=)
|
|
|
NM_000094.4(COL7A1):c.7488G>T (p.Gly2496=)
|
rs2107643806
|
|
NM_000094.4(COL7A1):c.7491C>G (p.Pro2497=)
|
rs759248490
|
|
NM_000094.4(COL7A1):c.7493del (p.Pro2498fs)
|
rs1165239659
|
|
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.7512T>C (p.Arg2504=)
|
|
|
NM_000094.4(COL7A1):c.7515G>A (p.Gly2505=)
|
rs2107643692
|
|
NM_000094.4(COL7A1):c.751C>T (p.Gln251Ter)
|
rs1211890738
|
|
NM_000094.4(COL7A1):c.7520del (p.Lys2507fs)
|
|
|
NM_000094.4(COL7A1):c.7521+14dup
|
rs1381031436
|
|
NM_000094.4(COL7A1):c.7521+1G>A
|
rs1560200657
|
|
NM_000094.4(COL7A1):c.7521+20C>A
|
|
|
NM_000094.4(COL7A1):c.7521+20C>T
|
|
|
NM_000094.4(COL7A1):c.7521G>A (p.Lys2507=)
|
|
|
NM_000094.4(COL7A1):c.7522-11_7522-10del
|
|
|
NM_000094.4(COL7A1):c.7522-14C>T
|
|
|
NM_000094.4(COL7A1):c.7522-17A>G
|
|
|
NM_000094.4(COL7A1):c.7522-4A>G
|
|
|
NM_000094.4(COL7A1):c.7522-5A>G
|
rs779113637
|
|
NM_000094.4(COL7A1):c.7522-7C>A
|
|
|
NM_000094.4(COL7A1):c.7522-8C>T
|
|
|
NM_000094.4(COL7A1):c.7527T>C (p.Asp2509=)
|
|
|
NM_000094.4(COL7A1):c.7529T>C (p.Val2510Ala)
|
|
|
NM_000094.4(COL7A1):c.7530dup (p.Gly2511fs)
|
|
|
NM_000094.4(COL7A1):c.7535_7542del (p.Ser2512fs)
|
|
|
NM_000094.4(COL7A1):c.7536T>C (p.Ser2512=)
|
|
|
NM_000094.4(COL7A1):c.753G>A (p.Gln251=)
|
|
|
NM_000094.4(COL7A1):c.7543C>T (p.Leu2515=)
|
rs1011059662
|
|
NM_000094.4(COL7A1):c.7547_7551dup (p.Asp2518fs)
|
|
|
NM_000094.4(COL7A1):c.7547dup (p.Gly2517_Asp2518insTer)
|
rs2107642953
|
|
NM_000094.4(COL7A1):c.7548G>A (p.Lys2516=)
|
rs1357504212
|
|
NM_000094.4(COL7A1):c.7550G>A (p.Gly2517Asp)
|
|
|
NM_000094.4(COL7A1):c.7554C>T (p.Asp2518=)
|
rs2107642914
|
|
NM_000094.4(COL7A1):c.7557+14T>G
|
|
|
NM_000094.4(COL7A1):c.7557+16G>A
|
|
|
NM_000094.4(COL7A1):c.7557+1G>T
|
rs786204774
|
|
NM_000094.4(COL7A1):c.7557+20G>A
|
|
|
NM_000094.4(COL7A1):c.7558-16C>T
|
|
|
NM_000094.4(COL7A1):c.7558-5dup
|
|
|
NM_000094.4(COL7A1):c.7558-6C>A
|
|
|
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.7594C>T (p.Arg2532Trp)
|
|
|
NM_000094.4(COL7A1):c.7598G>A (p.Gly2533Asp)
|
|
|
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.7613T>C (p.Met2538Thr)
|
|
|
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+6T>C
|
|
|
NM_000094.4(COL7A1):c.7614+7G>T
|
|
|
NM_000094.4(COL7A1):c.7614G>A (p.Met2538Ile)
|
|
|
NM_000094.4(COL7A1):c.7615-13C>T
|
|
|
NM_000094.4(COL7A1):c.7615-1G>A
|
|
|
NM_000094.4(COL7A1):c.7615-4C>A
|
rs2107641831
|
|
NM_000094.4(COL7A1):c.7615-5C>G
|
|
|
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.7619A>G (p.Glu2540Gly)
|
|
|
NM_000094.4(COL7A1):c.7620_7646del (p.Glu2540_Gly2548del)
|
|
|
NM_000094.4(COL7A1):c.7621C>A (p.Arg2541=)
|
|
|
NM_000094.4(COL7A1):c.7621C>T (p.Arg2541Ter)
|
rs2107641787
|
|
NM_000094.4(COL7A1):c.7622G>A (p.Arg2541Gln)
|
|
|
NM_000094.4(COL7A1):c.7627C>T (p.Pro2543Ser)
|
rs2043774045
|
|
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.7636T>A (p.Leu2546Met)
|
|
|
NM_000094.4(COL7A1):c.7637T>A (p.Leu2546Ter)
|
|
|
NM_000094.4(COL7A1):c.764C>T (p.Ala255Val)
|
|
|
NM_000094.4(COL7A1):c.7657C>A (p.Arg2553=)
|
rs752294739
|
|
NM_000094.4(COL7A1):c.7657C>T (p.Arg2553Trp)
|
|
|
NM_000094.4(COL7A1):c.7658G>A (p.Arg2553Gln)
|
|
|
NM_000094.4(COL7A1):c.7662A>G (p.Gly2554=)
|
rs953324706
|
|
NM_000094.4(COL7A1):c.7663G>A (p.Asp2555Asn)
|
|
|
NM_000094.4(COL7A1):c.7665C>T (p.Asp2555=)
|
|
|
NM_000094.4(COL7A1):c.7672G>A (p.Asp2558Asn)
|
|
|
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+11G>A
|
|
|
NM_000094.4(COL7A1):c.7686+13G>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.7690A>G (p.Ser2564Gly)
|
rs2107639863
|
|
NM_000094.4(COL7A1):c.7692C>T (p.Ser2564=)
|
|
|
NM_000094.4(COL7A1):c.7694A>G (p.Lys2565Arg)
|
|
|
NM_000094.4(COL7A1):c.76A>G (p.Arg26Gly)
|
rs923284415
|
|
NM_000094.4(COL7A1):c.7704T>C (p.Pro2568=)
|
rs2107639826
|
|
NM_000094.4(COL7A1):c.7708del (p.Asp2570fs)
|
rs2107639823
|
|
NM_000094.4(COL7A1):c.7711A>G (p.Lys2571Glu)
|
|
|
NM_000094.4(COL7A1):c.7711A>T (p.Lys2571Ter)
|
|
|
NM_000094.4(COL7A1):c.7722C>A (p.Ala2574=)
|
|
|
NM_000094.4(COL7A1):c.7723G>T (p.Gly2575Trp)
|
|
|
NM_000094.4(COL7A1):c.7725G>C (p.Gly2575=)
|
|
|
NM_000094.4(COL7A1):c.7728G>T (p.Leu2576Phe)
|
|
|
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.7756dup (p.Gln2586fs)
|
rs2043739526
|
|
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+2C>A
|
rs2107639630
|
|
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.7759-14_7771delinsCCC
|
rs2107638542
|
|
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.7759-2A>G
|
rs2043717214
|
|
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.7787del (p.Gly2596fs)
|
rs759990189
|
|
NM_000094.4(COL7A1):c.7789_7794+2del
|
rs2107638414
|
|
NM_000094.4(COL7A1):c.778A>G (p.Thr260Ala)
|
|
|
NM_000094.4(COL7A1):c.7791C>T (p.Asp2597=)
|
rs2107638458
|
|
NM_000094.4(COL7A1):c.7792C>T (p.Pro2598Ser)
|
rs2107638447
|
|
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>G
|
|
|
NM_000094.4(COL7A1):c.7795-9C>T
|
|
|
NM_000094.4(COL7A1):c.7797A>T (p.Gly2599=)
|
rs2107637424
|
|
NM_000094.4(COL7A1):c.7802del (p.Pro2601fs)
|
rs1482828043
|
|
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.7828del (p.Arg2610fs)
|
rs2107637340
|
|
NM_000094.4(COL7A1):c.7829G>A (p.Arg2610Gln)
|
rs372102117
|
|
NM_000094.4(COL7A1):c.7833A>G (p.Gly2611=)
|
|
|
NM_000094.4(COL7A1):c.7846G>A (p.Val2616Ile)
|
|
|
NM_000094.4(COL7A1):c.7847T>C (p.Val2616Ala)
|
|
|
NM_000094.4(COL7A1):c.7865G>C (p.Arg2622Pro)
|
rs368529673
|
|
NM_000094.4(COL7A1):c.7868G>A (p.Gly2623Asp)
|
|
|
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.7875+1G>C
|
rs2107637140
|
|
NM_000094.4(COL7A1):c.7875+1G>T
|
|
|
NM_000094.4(COL7A1):c.7875+4G>A
|
|
|
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.7883G>A (p.Arg2628Gln)
|
|
|
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.7901G>C (p.Cys2634Ser)
|
|
|
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.7918A>G (p.Lys2640Glu)
|
|
|
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+1G>A
|
rs2107636494
|
|
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.7929+5A>G
|
|
|
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.793C>T (p.Gln265Ter)
|
|
|
NM_000094.4(COL7A1):c.7941T>G (p.Gly2647=)
|
|
|
NM_000094.4(COL7A1):c.7945_7946del (p.Pro2649fs)
|
|
|
NM_000094.4(COL7A1):c.7951C>T (p.Arg2651Cys)
|
|
|
NM_000094.4(COL7A1):c.7952G>A (p.Arg2651His)
|
|
|
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.7964C>T (p.Ala2655Val)
|
|
|
NM_000094.4(COL7A1):c.7966G>C (p.Gly2656Arg)
|
|
|
NM_000094.4(COL7A1):c.7967G>T (p.Gly2656Val)
|
rs557951372
|
|
NM_000094.4(COL7A1):c.7972A>C (p.Lys2658Gln)
|
|
|
NM_000094.4(COL7A1):c.7974A>G (p.Lys2658=)
|
rs2043669746
|
|
NM_000094.4(COL7A1):c.7975G>A (p.Gly2659Arg)
|
rs2107635664
|
|
NM_000094.4(COL7A1):c.7978G>C (p.Glu2660Gln)
|
|
|
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+1G>C
|
rs2107635603
|
|
NM_000094.4(COL7A1):c.7983+8_7983+9del
|
rs769750167
|
|
NM_000094.4(COL7A1):c.7983+9G>A
|
|
|
NM_000094.4(COL7A1):c.7983G>A (p.Met2661Ile)
|
|
|
NM_000094.4(COL7A1):c.7984-13dup
|
rs66737445
|
|
NM_000094.4(COL7A1):c.7984-14C>T
|
|
|
NM_000094.4(COL7A1):c.7984-1G>T
|
|
|
NM_000094.4(COL7A1):c.7984-7T>C
|
rs1575418842
|
|
NM_000094.4(COL7A1):c.7984-7del
|
rs66737445
|
|
NM_000094.4(COL7A1):c.7984-8_7984-7del
|
|
|
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.7994G>C (p.Gly2665Ala)
|
|
|
NM_000094.4(COL7A1):c.7998G>C (p.Val2666=)
|
|
|
NM_000094.4(COL7A1):c.79G>T (p.Glu27Ter)
|
rs2107811815
|
|
NM_000094.4(COL7A1):c.8003G>C (p.Gly2668Ala)
|
rs539565729
|
|
NM_000094.4(COL7A1):c.8004C>A (p.Gly2668=)
|
rs2107635160
|
|
NM_000094.4(COL7A1):c.8005C>T (p.Gln2669Ter)
|
rs2107635149
|
|
NM_000094.4(COL7A1):c.8005_8009dup (p.Gly2671fs)
|
rs2107635110
|
|
NM_000094.4(COL7A1):c.8007G>A (p.Gln2669=)
|
rs369881673
|
|
NM_000094.4(COL7A1):c.8009C>T (p.Ser2670Leu)
|
|
|
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.8015C>G (p.Ala2672Gly)
|
|
|
NM_000094.4(COL7A1):c.8017C>G (p.Pro2673Ala)
|
|
|
NM_000094.4(COL7A1):c.8017C>T (p.Pro2673Ser)
|
|
|
NM_000094.4(COL7A1):c.8018C>T (p.Pro2673Leu)
|
|
|
NM_000094.4(COL7A1):c.8020G>C (p.Gly2674Arg)
|
rs2107635006
|
|
NM_000094.4(COL7A1):c.8031C>G (p.Gly2677=)
|
|
|
NM_000094.4(COL7A1):c.8041C>A (p.Pro2681Thr)
|
|
|
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.8046+8G>T
|
|
|
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.8054G>A (p.Arg2685Gln)
|
|
|
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.8068C>T (p.Gln2690Ter)
|
|
|
NM_000094.4(COL7A1):c.806T>C (p.Leu269Pro)
|
|
|
NM_000094.4(COL7A1):c.806dup (p.Thr270fs)
|
|
|
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.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.8109+3G>A
|
|
|
NM_000094.4(COL7A1):c.8109G>A (p.Arg2703=)
|
|
|
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.8111G>A (p.Gly2704Glu)
|
rs2107632852
|
|
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.8126G>C (p.Gly2709Ala)
|
|
|
NM_000094.4(COL7A1):c.8127G>C (p.Gly2709=)
|
rs2043636654
|
|
NM_000094.4(COL7A1):c.812G>A (p.Gly271Glu)
|
|
|
NM_000094.4(COL7A1):c.813G>T (p.Gly271=)
|
|
|
NM_000094.4(COL7A1):c.8140C>A (p.Pro2714Thr)
|
|
|
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.8156G>C (p.Gly2719Ala)
|
|
|
NM_000094.4(COL7A1):c.8158T>C (p.Ser2720Pro)
|
|
|
NM_000094.4(COL7A1):c.8159C>T (p.Ser2720Phe)
|
|
|
NM_000094.4(COL7A1):c.8165G>T (p.Gly2722Val)
|
rs759949767
|
|
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.8191G>A (p.Gly2731Ser)
|
|
|
NM_000094.4(COL7A1):c.8193T>C (p.Gly2731=)
|
rs2107632578
|
|
NM_000094.4(COL7A1):c.8197A>C (p.Arg2733=)
|
|
|
NM_000094.4(COL7A1):c.8219G>C (p.Gly2740Ala)
|
rs745691610
|
|
NM_000094.4(COL7A1):c.8226+14G>C
|
rs2107632448
|
|
NM_000094.4(COL7A1):c.8226+1G>T
|
|
|
NM_000094.4(COL7A1):c.8226+1del
|
rs2107632493
|
|
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.8227-1G>C
|
rs2043625281
|
|
NM_000094.4(COL7A1):c.8227-3C>T
|
rs761592627
|
|
NM_000094.4(COL7A1):c.8227-8T>C
|
rs2107632111
|
|
NM_000094.4(COL7A1):c.8233C>T (p.Arg2745Ter)
|
rs768202310
|
|
NM_000094.4(COL7A1):c.8239C>T (p.Pro2747Ser)
|
rs1218556461
|
|
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.8244dup (p.Gly2749fs)
|
rs2107632018
|
|
NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu)
|
rs2107631988
|
|
NM_000094.4(COL7A1):c.8253_8254dup (p.Val2752fs)
|
rs1363308991
|
|
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.8263G>A (p.Ala2755Thr)
|
|
|
NM_000094.4(COL7A1):c.8263del (p.Ala2755fs)
|
rs2107631937
|
|
NM_000094.4(COL7A1):c.826C>T (p.Leu276=)
|
|
|
NM_000094.4(COL7A1):c.8271G>C (p.Gly2757=)
|
|
|
NM_000094.4(COL7A1):c.8272del (p.Val2758fs)
|
rs1553849789
|
|
NM_000094.4(COL7A1):c.8272dup (p.Val2758fs)
|
rs1553849789
|
|
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.82A>G (p.Arg28Gly)
|
|
|
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.8305-2A>C
|
rs2107631431
|
|
NM_000094.4(COL7A1):c.8305-3T>C
|
|
|
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.8305G>C (p.Gly2769Arg)
|
rs1266365479
|
|
NM_000094.4(COL7A1):c.8309G>A (p.Arg2770Gln)
|
rs541445877
|
|
NM_000094.4(COL7A1):c.830C>T (p.Pro277Leu)
|
|
|
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.8324G>A (p.Gly2775Asp)
|
|
|
NM_000094.4(COL7A1):c.8329C>T (p.Arg2777Ter)
|
rs886039330
|
|
NM_000094.4(COL7A1):c.8330G>A (p.Arg2777Gln)
|
|
|
NM_000094.4(COL7A1):c.8331A>G (p.Arg2777=)
|
rs202104980
|
|
NM_000094.4(COL7A1):c.8333G>A (p.Gly2778Asp)
|
|
|
NM_000094.4(COL7A1):c.8333_8344del (p.Gly2778_Gly2781del)
|
|
|
NM_000094.4(COL7A1):c.8334C>T (p.Gly2778=)
|
|
|
NM_000094.4(COL7A1):c.8348C>G (p.Ala2783Gly)
|
|
|
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.8357C>T (p.Thr2786Met)
|
|
|
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+3G>A
|
|
|
NM_000094.4(COL7A1):c.8358+5G>T
|
|
|
NM_000094.4(COL7A1):c.8358+7G>A
|
|
|
NM_000094.4(COL7A1):c.8358G>A (p.Thr2786=)
|
|
|
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.8371del (p.Arg2791fs)
|
rs2107630477
|
|
NM_000094.4(COL7A1):c.8383C>T (p.Arg2795Cys)
|
|
|
NM_000094.4(COL7A1):c.8384G>A (p.Arg2795His)
|
|
|
NM_000094.4(COL7A1):c.838C>T (p.Arg280Trp)
|
|
|
NM_000094.4(COL7A1):c.8392A>G (p.Met2798Val)
|
|
|
NM_000094.4(COL7A1):c.8394G>A (p.Met2798Ile)
|
|
|
NM_000094.4(COL7A1):c.839G>A (p.Arg280Gln)
|
|
|
NM_000094.4(COL7A1):c.8403C>T (p.His2801=)
|
|
|
NM_000094.4(COL7A1):c.8405G>C (p.Cys2802Ser)
|
|
|
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.8408-7_8419del
|
rs2043573440
|
|
NM_000094.4(COL7A1):c.8415G>C (p.Gln2805His)
|
rs778068500
|
|
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.8441-1G>A
|
|
|
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.8443C>T (p.Pro2815Ser)
|
|
|
NM_000094.4(COL7A1):c.8446C>T (p.Leu2816Phe)
|
|
|
NM_000094.4(COL7A1):c.8450C>T (p.Pro2817Leu)
|
|
|
NM_000094.4(COL7A1):c.8451T>G (p.Pro2817=)
|
rs2107627845
|
|
NM_000094.4(COL7A1):c.8457T>G (p.Tyr2819Ter)
|
rs751768659
|
|
NM_000094.4(COL7A1):c.846+13G>A
|
|
|
NM_000094.4(COL7A1):c.846+2T>C
|
rs2045798629
|
|
NM_000094.4(COL7A1):c.846+8G>A
|
rs2107795792
|
|
NM_000094.4(COL7A1):c.8460T>G (p.Ala2820=)
|
|
|
NM_000094.4(COL7A1):c.846G>A (p.Glu282=)
|
rs770216458
|
|
NM_000094.4(COL7A1):c.847-16C>T
|
|
|
NM_000094.4(COL7A1):c.847-18A>G
|
|
|
NM_000094.4(COL7A1):c.847-1_847delinsCA
|
rs2107795483
|
|
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.8471C>T (p.Ala2824Val)
|
|
|
NM_000094.4(COL7A1):c.8473G>C (p.Gly2825Arg)
|
|
|
NM_000094.4(COL7A1):c.8475C>T (p.Gly2825=)
|
rs879469736
|
|
NM_000094.4(COL7A1):c.8482C>T (p.Leu2828Phe)
|
|
|
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.8498T>C (p.Val2833Ala)
|
|
|
NM_000094.4(COL7A1):c.8498T>G (p.Val2833Gly)
|
rs1360820174
|
|
NM_000094.4(COL7A1):c.8499G>A (p.Val2833=)
|
|
|
NM_000094.4(COL7A1):c.84A>G (p.Arg28=)
|
rs1559444716
|
|
NM_000094.4(COL7A1):c.84_85del (p.Arg28fs)
|
|
|
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.8503_8510del (p.Arg2835fs)
|
|
|
NM_000094.4(COL7A1):c.8505C>A (p.Arg2835=)
|
rs748854889
|
|
NM_000094.4(COL7A1):c.8505dup (p.Val2836fs)
|
|
|
NM_000094.4(COL7A1):c.8510C>T (p.Ser2837Phe)
|
|
|
NM_000094.4(COL7A1):c.8511_8512del (p.His2838fs)
|
rs2107627594
|
|
NM_000094.4(COL7A1):c.8524_8527+10del
|
rs566181351
|
|
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.8528-1G>C
|
|
|
NM_000094.4(COL7A1):c.8531G>A (p.Arg2844Gln)
|
|
|
NM_000094.4(COL7A1):c.8532G>C (p.Arg2844=)
|
rs2107626759
|
|
NM_000094.4(COL7A1):c.8536C>A (p.Pro2846Thr)
|
|
|
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.8540_8541del (p.Pro2847fs)
|
rs2107626681
|
|
NM_000094.4(COL7A1):c.8540dup (p.Pro2847_Glu2848insTer)
|
rs2107626695
|
|
NM_000094.4(COL7A1):c.8541del (p.Glu2848fs)
|
rs2043547588
|
|
NM_000094.4(COL7A1):c.8542G>A (p.Glu2848Lys)
|
rs2107626662
|
|
NM_000094.4(COL7A1):c.8544G>A (p.Glu2848=)
|
|
|
NM_000094.4(COL7A1):c.854T>C (p.Val285Ala)
|
|
|
NM_000094.4(COL7A1):c.8558_8568del (p.Tyr2852_Ser2853insTer)
|
rs2043546317
|
|
NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)
|
rs372166543
|
|
NM_000094.4(COL7A1):c.8569G>T (p.Glu2857Ter)
|
rs372166543
|
|
NM_000094.4(COL7A1):c.856C>A (p.Pro286Thr)
|
|
|
NM_000094.4(COL7A1):c.8574T>G (p.Tyr2858Ter)
|
|
|
NM_000094.4(COL7A1):c.8575T>G (p.Ser2859Ala)
|
|
|
NM_000094.4(COL7A1):c.8580G>A (p.Val2860=)
|
|
|
NM_000094.4(COL7A1):c.8581G>C (p.Glu2861Gln)
|
|
|
NM_000094.4(COL7A1):c.8583G>A (p.Glu2861=)
|
rs368947460
|
|
NM_000094.4(COL7A1):c.8584G>T (p.Glu2862Ter)
|
rs1262728824
|
|
NM_000094.4(COL7A1):c.8586G>A (p.Glu2862=)
|
rs1575414713
|
|
NM_000094.4(COL7A1):c.85G>C (p.Val29Leu)
|
rs2107811679
|
|
NM_000094.4(COL7A1):c.86-1G>A
|
rs2107807874
|
|
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.8609G>A (p.Trp2870Ter)
|
|
|
NM_000094.4(COL7A1):c.8610G>C (p.Trp2870Cys)
|
|
|
NM_000094.4(COL7A1):c.8612A>G (p.Asp2871Gly)
|
|
|
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+14del
|
|
|
NM_000094.4(COL7A1):c.8620+14dup
|
|
|
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+19insCGC
|
rs138595277
|
|
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.8626T>C (p.Cys2876Arg)
|
|
|
NM_000094.4(COL7A1):c.862G>A (p.Gly288Ser)
|
rs747720093
|
|
NM_000094.4(COL7A1):c.8634G>A (p.Leu2878=)
|
|
|
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.8664C>T (p.Tyr2888=)
|
rs2043535071
|
|
NM_000094.4(COL7A1):c.8664del (p.Ala2887_Tyr2888insTer)
|
|
|
NM_000094.4(COL7A1):c.8666C>T (p.Thr2889Ile)
|
|
|
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.8671C>T (p.Arg2891Cys)
|
|
|
NM_000094.4(COL7A1):c.8673C>T (p.Arg2891=)
|
|
|
NM_000094.4(COL7A1):c.8679C>G (p.Tyr2893Ter)
|
rs2043534139
|
|
NM_000094.4(COL7A1):c.8684G>C (p.Arg2895Pro)
|
rs147911102
|
|
NM_000094.4(COL7A1):c.8685G>A (p.Arg2895=)
|
|
|
NM_000094.4(COL7A1):c.8685G>T (p.Arg2895=)
|
rs2107625504
|
|
NM_000094.4(COL7A1):c.8694_8715del (p.Gly2899fs)
|
|
|
NM_000094.4(COL7A1):c.8698_8708del (p.Ser2900fs)
|
|
|
NM_000094.4(COL7A1):c.869C>A (p.Thr290Asn)
|
|
|
NM_000094.4(COL7A1):c.8704del (p.Glu2902fs)
|
|
|
NM_000094.4(COL7A1):c.8707G>A (p.Ala2903Thr)
|
|
|
NM_000094.4(COL7A1):c.8707del (p.Ala2903fs)
|
rs2107625491
|
|
NM_000094.4(COL7A1):c.8709C>G (p.Ala2903=)
|
rs140781372
|
|
NM_000094.4(COL7A1):c.8712T>A (p.Cys2904Ter)
|
|
|
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.873T>C (p.Ser291=)
|
rs2107795279
|
|
NM_000094.4(COL7A1):c.8745T>C (p.Asn2915=)
|
|
|
NM_000094.4(COL7A1):c.8747C>T (p.Ala2916Val)
|
|
|
NM_000094.4(COL7A1):c.8748C>T (p.Ala2916=)
|
|
|
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.8757T>C (p.Phe2919=)
|
|
|
NM_000094.4(COL7A1):c.8759G>A (p.Gly2920Glu)
|
|
|
NM_000094.4(COL7A1):c.8760G>A (p.Gly2920=)
|
rs2107625339
|
|
NM_000094.4(COL7A1):c.8760del (p.Thr2921fs)
|
|
|
NM_000094.4(COL7A1):c.8761A>G (p.Thr2921Ala)
|
|
|
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.8777A>T (p.Glu2926Val)
|
|
|
NM_000094.4(COL7A1):c.877C>T (p.Arg293Trp)
|
|
|
NM_000094.4(COL7A1):c.8782C>T (p.Arg2928Cys)
|
|
|
NM_000094.4(COL7A1):c.8786G>T (p.Cys2929Phe)
|
|
|
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.8797G>C (p.Val2933Leu)
|
|
|
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.8807G>T (p.Ser2936Ile)
|
|
|
NM_000094.4(COL7A1):c.8808C>G (p.Ser2936Arg)
|
|
|
NM_000094.4(COL7A1):c.8809C>G (p.Gln2937Glu)
|
|
|
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+2T>A
|
rs1171778175
|
|
NM_000094.4(COL7A1):c.8818+4T>G
|
|
|
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.887del (p.Gly296fs)
|
rs1131691385
|
|
NM_000094.4(COL7A1):c.888T>C (p.Gly296=)
|
rs1575492483
|
|
NM_000094.4(COL7A1):c.892C>T (p.Arg298Trp)
|
|
|
NM_000094.4(COL7A1):c.909C>T (p.Tyr303=)
|
rs1559438075
|
|
NM_000094.4(COL7A1):c.90del (p.Cys31fs)
|
rs747209331
|
|
NM_000094.4(COL7A1):c.913G>A (p.Val305Met)
|
|
|
NM_000094.4(COL7A1):c.921G>C (p.Val307=)
|
rs2107794849
|
|
NM_000094.4(COL7A1):c.926C>T (p.Ala309Val)
|
|
|
NM_000094.4(COL7A1):c.932A>G (p.Tyr311Cys)
|
|
|
NM_000094.4(COL7A1):c.933C>G (p.Tyr311Ter)
|
|
|
NM_000094.4(COL7A1):c.934G>A (p.Ala312Thr)
|
|
|
NM_000094.4(COL7A1):c.939C>T (p.Asn313=)
|
|
|
NM_000094.4(COL7A1):c.940A>C (p.Ser314Arg)
|
|
|
NM_000094.4(COL7A1):c.941G>T (p.Ser314Ile)
|
rs1025287667
|
|
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.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.963G>A (p.Gly321=)
|
|
|
NM_000094.4(COL7A1):c.971G>A (p.Arg324Gln)
|
|
|
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+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+1G>A
|
|
|
NM_000094.4(COL7A1):c.976+8A>T
|
|
|
NM_000094.4(COL7A1):c.976del (p.Thr326fs)
|
rs2107794257
|
|
NM_000094.4(COL7A1):c.977-13G>T
|
|
|
NM_000094.4(COL7A1):c.977-19T>G
|
|
|
NM_000094.4(COL7A1):c.977-2A>T
|
rs2107793510
|
|
NM_000094.4(COL7A1):c.977-3C>T
|
|
|
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.97del (p.Arg33fs)
|
rs2107807665
|
|
NM_000094.4(COL7A1):c.992C>T (p.Pro331Leu)
|
|
|
NM_000094.4(COL7A1):c.997C>T (p.Leu333=)
|
rs2107793388
|
|
NM_000094.4(COL7A1):c.998T>C (p.Leu333Pro)
|
rs2107793377
|
|
NM_000094.4(COL7A1):c.99C>A (p.Arg33=)
|
rs1179008961
|
|
NM_000094.4(COL7A1):c.99C>G (p.Arg33=)
|
|
|