ClinVar Miner

List of variants in gene COL7A1 studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4733
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.2817A>G (p.Pro939=) rs1264194 0.74947
NM_000094.4(COL7A1):c.8620+23G>A rs41290684 0.48002
NM_000094.4(COL7A1):c.3139+12G>A rs2255532 0.46226
NM_000094.4(COL7A1):c.8408-125_8408-122dup rs3832252 0.15278
NM_000094.4(COL7A1):c.5821-61C>T rs9881877 0.15135
NM_000094.4(COL7A1):c.7164+28A>G rs9878950 0.14872
NM_000094.4(COL7A1):c.4899+27T>C rs1003649 0.14593
NM_000094.4(COL7A1):c.7759-98C>A rs2532848 0.12389
NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu) rs2228561 0.09897
NM_000094.4(COL7A1):c.7522-49T>C rs6781283 0.08659
NM_000094.4(COL7A1):c.6618+21A>G rs9814951 0.06795
NM_000094.4(COL7A1):c.6279+26C>T rs76140443 0.05953
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.8304+34C>T rs41290686 0.05173
NM_000094.4(COL7A1):c.1358-25C>T rs72925275 0.04358
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.2587+28C>T rs76683871 0.02616
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.3895-155C>T rs113845991 0.01787
NM_000094.4(COL7A1):c.3975+11C>T rs7637885 0.01719
NM_000094.4(COL7A1):c.-57T>G rs115744844 0.01649
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.1202G>T (p.Arg401Leu) rs757929353 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.4228C>T (p.Pro1410Ser) rs778098950 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.4448G>A (p.Gly1483Asp) rs756217590 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.4899+31G>A rs370500985 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.6751G>A (p.Gly2251Arg) rs765034336 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.7204G>A (p.Val2402Ile) rs761576147 0.00001
NM_000094.4(COL7A1):c.720G>A (p.Leu240=) rs181486713 0.00001
NM_000094.4(COL7A1):c.7219G>A (p.Gly2407Ser) rs774332349 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.8138G>A (p.Gly2713Asp) rs369591910 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
NC_000003.12:g.48595347G>A rs2046013117
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.1114G>A (p.Glu372Lys)
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.1242C>A (p.Asp414Glu)
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.1452_1453del (p.Tyr485fs) rs752558942
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.1781-1G>C rs1553614878
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.1A>G (p.Met1Val) rs1064797078
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.2223_2226dup (p.Leu743fs) rs1057517720
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.2252T>A (p.Val751Glu) rs2107772444
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.2291del (p.Pro764fs) rs775496394
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.2360C>T (p.Ala787Val) rs2107769020
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+3A>G
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.2644T>C (p.Ser882Pro) rs2045438463
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+35T>G rs28581474
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.2715_2722dup (p.Gln908fs) rs1553613303
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.2729G>C (p.Arg910Pro) rs373718618
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>A (p.Phe92Leu) rs746563255
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.2993-5_3007dup rs2107756223
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.3103G>A (p.Val1035Met)
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.3140-10del rs1228248856
NM_000094.4(COL7A1):c.3140-11C>T
NM_000094.4(COL7A1):c.3140-12C>T
NM_000094.4(COL7A1):c.3140-13C>A
NM_000094.4(COL7A1):c.3140-13C>T
NM_000094.4(COL7A1):c.3140-14T>C
NM_000094.4(COL7A1):c.3140-16G>C
NM_000094.4(COL7A1):c.3140-18T>C
NM_000094.4(COL7A1):c.3140-4A>G rs201656230
NM_000094.4(COL7A1):c.3141G>A (p.Val1047=)
NM_000094.4(COL7A1):c.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.3188_3189dup (p.Asp1064fs)
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.3503C>G (p.Pro1168Arg)
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.3631C>T (p.Gln1211Ter) rs747522386
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.3746T>C (p.Val1249Ala)
NM_000094.4(COL7A1):c.3751_3752insACCA (p.Cys1251fs) rs1064795917
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+1G>A rs1553862581
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.4323del (p.Gly1442fs) rs2107728359
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.4466del (p.Gly1489fs) rs886041885
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.457C>T (p.Gln153Ter)
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.4600G>A (p.Gly1534Arg) rs1553860378
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>A rs1317431984
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.4670G>A (p.Gly1557Glu) rs1057520566
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.4720del (p.Arg1574fs) rs2107714011
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.4864G>C (p.Gly1622Arg) rs786205561
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.4928G>A (p.Gly1643Asp) rs1057520567
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.5027G>A (p.Gly1676Glu) rs886041188
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.5035G>A (p.Gly1679Arg) rs1131691601
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.5098G>C (p.Gly1700Arg) rs773932446
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+2T>C rs2107702819
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.5261del (p.Pro1754fs) rs1057517723
NM_000094.4(COL7A1):c.5261dup (p.Gly1755fs) rs1057517723
NM_000094.4(COL7A1):c.5264G>A (p.Gly1755Asp) rs2107698800
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.5273G>T (p.Gly1758Val) rs1553857986
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.5299G>A (p.Gly1767Arg)
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>A (p.Gly1770Asp)
NM_000094.4(COL7A1):c.5309G>T (p.Gly1770Val)
NM_000094.4(COL7A1):c.5318G>T (p.Gly1773Val) rs2107697174
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+5G>A rs1057523751
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.5424+61C>T rs73078310
NM_000094.4(COL7A1):c.5425-15A>G
NM_000094.4(COL7A1):c.5425-1G>C rs112850769
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.5462G>A (p.Gly1821Asp) rs2107692123
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.5476C>T (p.Pro1826Ser) rs2107692007
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+4A>G rs2107690960
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.5585C>G (p.Ser1862Ter) rs1013627013
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.5605G>C (p.Gly1869Arg) rs1057517724
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+1G>A rs2107680218
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.58C>T (p.Arg20Ter) rs886039562
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.6008G>A (p.Gly2003Glu) rs2107675162
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.6035G>A (p.Gly2012Asp) rs2107674937
NM_000094.4(COL7A1):c.6041del (p.Gln2014fs) rs1575439903
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.6067_6075delinsAATGGGGT (p.Glu2023fs)
NM_000094.4(COL7A1):c.6074G>C (p.Gly2025Ala)
NM_000094.4(COL7A1):c.6074del (p.Gly2025fs) rs886041417
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.6110G>A (p.Gly2037Glu) rs121912846
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.6127G>T (p.Gly2043Trp) rs121912836
NM_000094.4(COL7A1):c.6128G>A (p.Gly2043Glu) rs2107674192
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.6164G>A (p.Gly2055Glu) rs1553854678
NM_000094.4(COL7A1):c.6168G>T (p.Arg2056Ser)
NM_000094.4(COL7A1):c.6171A>G (p.Pro2057=) rs763064296
NM_000094.4(COL7A1):c.6172G>A (p.Gly2058Arg) rs2107673815
NM_000094.4(COL7A1):c.6173G>A (p.Gly2058Glu)
NM_000094.4(COL7A1):c.6176A>G (p.Glu2059Gly) rs1057517726
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+23A>T rs1553854648
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.6189_6206del (p.Lys2066_Glu2071del) rs2107672756
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.6199G>A (p.Gly2067Arg)
NM_000094.4(COL7A1):c.61G>A (p.Val21Met)
NM_000094.4(COL7A1):c.6215A>G (p.Gln2072Arg)
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+2T>G
NM_000094.4(COL7A1):c.6216+37G>A rs2107672377
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.6217G>T (p.Gly2073Cys) rs2107672112
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.6235G>A (p.Gly2079Arg) rs2107671960
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.6351delinsAT (p.Gly2117_Glu2118insTer) rs1575437481
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.6394G>C (p.Gly2132Arg) rs1131691559
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.6530G>A (p.Gly2177Asp)
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.6602G>A (p.Gly2201Glu) rs2107663241
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.6718delinsGA (p.Pro2240fs)
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.6724G>A (p.Gly2242Arg) rs121912837
NM_000094.4(COL7A1):c.6725G>A (p.Gly2242Glu)
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.6769G>A (p.Gly2257Arg) rs886041189
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.6778G>C (p.Gly2260Arg) rs2107659720
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.6842G>C (p.Gly2281Ala) rs1064793915
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.6855_6881del (p.Val2286_Pro2294del) rs1553853012
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) rs121912839
NM_000094.4(COL7A1):c.685G>C (p.Asp229His)
NM_000094.4(COL7A1):c.6861A>G (p.Gly2287=) rs1315644130
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+1G>A rs1064793908
NM_000094.4(COL7A1):c.6900+2_6900+5del
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.7021_7023del (p.Lys2341del)
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.7097G>T (p.Gly2366Val)
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.7106G>A (p.Gly2369Asp) rs2107650135
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.7168G>T (p.Asp2390Tyr)
NM_000094.4(COL7A1):c.7169A>G (p.Asp2390Gly) rs2107649138
NM_000094.4(COL7A1):c.717G>A (p.Val239=) rs777003245
NM_000094.4(COL7A1):c.7181C>G (p.Pro2394Arg)
NM_000094.4(COL7A1):c.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.7228G>A (p.Gly2410Ser)
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.7247G>T (p.Gly2416Val) rs769933448
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.7442G>A (p.Gly2481Asp) rs886039328
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.7558-1G>A rs2107642565
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.7688G>A (p.Gly2563Asp) rs1064793904
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.7987G>T (p.Glu2663Ter)
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.8012G>A (p.Gly2671Glu) rs886039329
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.8102G>T (p.Gly2701Val) rs1057520693
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.8110G>A (p.Gly2704Arg)
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>A (p.Gly2722Asp) rs759949767
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.8266C>T (p.Pro2756Ser) rs755546809
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.8302C>T (p.Gln2768Ter) rs2107631757
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.8408-125_8408-123del rs2107628989
NM_000094.4(COL7A1):c.8408-125_8408-124insCTGT rs2107629019
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.8528-45G>A
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.8770G>A (p.Ala2924Thr)
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=)

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