NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu)
|
rs2228561
|
0.09897
|
NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu)
|
rs35761247
|
0.03954
|
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)
|
rs142566193
|
0.00109
|
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=)
|
rs200972872
|
0.00010
|
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg)
|
rs121912856
|
0.00009
|
NM_000094.4(COL7A1):c.7674C>T (p.Asp2558=)
|
rs201140493
|
0.00009
|
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)
|
rs767539005
|
0.00006
|
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln)
|
rs570707807
|
0.00004
|
NM_000094.4(COL7A1):c.3841G>A (p.Gly1281Ser)
|
rs569641113
|
0.00003
|
NM_000094.4(COL7A1):c.5499C>T (p.Gly1833=)
|
rs758886532
|
0.00003
|
NM_000094.4(COL7A1):c.682+1G>A
|
rs775288140
|
0.00003
|
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)
|
rs144023803
|
0.00002
|
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val)
|
rs546776797
|
0.00002
|
NM_000094.4(COL7A1):c.497dup (p.Val168fs)
|
rs766902987
|
0.00002
|
NM_000094.4(COL7A1):c.5560G>A (p.Gly1854Arg)
|
rs146234310
|
0.00002
|
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser)
|
rs121912838
|
0.00002
|
NM_000094.4(COL7A1):c.7068+5G>A
|
rs779875751
|
0.00002
|
NM_000094.4(COL7A1):c.7738C>T (p.Arg2580Cys)
|
rs762084565
|
0.00002
|
NM_000094.4(COL7A1):c.8038G>A (p.Gly2680Ser)
|
rs370744140
|
0.00002
|
NM_000094.4(COL7A1):c.8323G>A (p.Gly2775Ser)
|
rs1333259313
|
0.00002
|
NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter)
|
rs368007918
|
0.00001
|
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter)
|
rs759634066
|
0.00001
|
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)
|
rs780261665
|
0.00001
|
NM_000094.4(COL7A1):c.2035A>G (p.Ile679Val)
|
rs751176402
|
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.4448G>A (p.Gly1483Asp)
|
rs756217590
|
0.00001
|
NM_000094.4(COL7A1):c.4783-1G>A
|
rs371908708
|
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.5047C>T (p.Arg1683Ter)
|
rs760063197
|
0.00001
|
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter)
|
rs746053763
|
0.00001
|
NM_000094.4(COL7A1):c.520G>A (p.Gly174Arg)
|
rs1245411910
|
0.00001
|
NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp)
|
rs1032335328
|
0.00001
|
NM_000094.4(COL7A1):c.553C>T (p.Arg185Ter)
|
rs886041186
|
0.00001
|
NM_000094.4(COL7A1):c.5869C>T (p.Arg1957Trp)
|
rs747081862
|
0.00001
|
NM_000094.4(COL7A1):c.6170C>T (p.Pro2057Leu)
|
rs2044220324
|
0.00001
|
NM_000094.4(COL7A1):c.6187C>T (p.Arg2063Trp)
|
rs121912849
|
0.00001
|
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)
|
rs121912855
|
0.00001
|
NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe)
|
rs575575729
|
0.00001
|
NM_000094.4(COL7A1):c.6781C>T (p.Arg2261Ter)
|
rs772381373
|
0.00001
|
NM_000094.4(COL7A1):c.7051G>A (p.Gly2351Arg)
|
rs1800013
|
0.00001
|
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter)
|
rs121912854
|
0.00001
|
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu)
|
rs1233025207
|
0.00001
|
NM_000094.4(COL7A1):c.7380+2T>C
|
rs1249145909
|
0.00001
|
NM_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter)
|
rs121912852
|
0.00001
|
NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg)
|
rs760891216
|
0.00001
|
NM_000094.4(COL7A1):c.7828C>T (p.Arg2610Ter)
|
rs1064793916
|
0.00001
|
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg)
|
rs121912851
|
0.00001
|
NM_000094.4(COL7A1):c.8109+1G>A
|
rs1050797523
|
0.00001
|
NM_000094.4(COL7A1):c.8245G>A (p.Gly2749Arg)
|
rs121912853
|
0.00001
|
NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys)
|
rs121912828
|
0.00001
|
LRG_286t1:c.[520G>A];[2711-4_2711-1delCCAG]
|
|
|
NC_000003.12:g.48589471del
|
rs1336602322
|
|
NM_000094.3(COL7A1):c.4199del
|
rs2045013494
|
|
NM_000094.3(COL7A1):c.4603del
|
rs2044824444
|
|
NM_000094.3(COL7A1):c.7760del
|
rs2107638590
|
|
NM_000094.4(COL7A1):c.1319del (p.Glu440fs)
|
rs1559435706
|
|
NM_000094.4(COL7A1):c.1507+4A>T
|
rs2107788093
|
|
NM_000094.4(COL7A1):c.1A>G (p.Met1Val)
|
rs1064797078
|
|
NM_000094.4(COL7A1):c.2171-2A>G
|
rs1158674229
|
|
NM_000094.4(COL7A1):c.2318_2321dup (p.Glu774delinsAspTer)
|
rs1064797079
|
|
NM_000094.4(COL7A1):c.2441-6G>A
|
|
|
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs)
|
rs746056280
|
|
NM_000094.4(COL7A1):c.2548G>T (p.Asp850Tyr)
|
|
|
NM_000094.4(COL7A1):c.2708del (p.Glu903fs)
|
rs2107763474
|
|
NM_000094.4(COL7A1):c.2711-1G>C
|
rs2107760970
|
|
NM_000094.4(COL7A1):c.2858_2859del (p.Glu953fs)
|
rs2107757949
|
|
NM_000094.4(COL7A1):c.2989C>T (p.Gln997Ter)
|
rs1559423385
|
|
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.3265C>T (p.Gln1089Ter)
|
rs1553612617
|
|
NM_000094.4(COL7A1):c.3276+1G>A
|
rs2045311247
|
|
NM_000094.4(COL7A1):c.329_332dup (p.Ser111_Tyr112insTer)
|
rs1256976418
|
|
NM_000094.4(COL7A1):c.3376_3386del (p.Tyr1126fs)
|
rs765699235
|
|
NM_000094.4(COL7A1):c.343_344del (p.Gly115fs)
|
rs1480404745
|
|
NM_000094.4(COL7A1):c.3504del (p.Pro1168_Leu1169insTer)
|
rs730880286
|
|
NM_000094.4(COL7A1):c.3545_3550del (p.Ala1182_Ser1183del)
|
rs2107748198
|
|
NM_000094.4(COL7A1):c.3678_3681del (p.Ser1227fs)
|
|
|
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs)
|
rs757688782
|
|
NM_000094.4(COL7A1):c.3861del (p.Pro1289fs)
|
rs1575470363
|
|
NM_000094.4(COL7A1):c.3974del (p.Lys1325fs)
|
|
|
NM_000094.4(COL7A1):c.4011+1G>A
|
rs1553862581
|
|
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)
|
rs1156352791
|
|
NM_000094.4(COL7A1):c.4039G>T (p.Gly1347Trp)
|
rs121912833
|
|
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter)
|
rs1203706188
|
|
NM_000094.4(COL7A1):c.4119+1G>T
|
rs1575467199
|
|
NM_000094.4(COL7A1):c.4198G>A (p.Gly1400Ser)
|
rs2107731142
|
|
NM_000094.4(COL7A1):c.4237_4241delinsACAGA (p.Pro1413_Gly1414delinsThrAsp)
|
|
|
NM_000094.4(COL7A1):c.4250del (p.Gly1417fs)
|
|
|
NM_000094.4(COL7A1):c.4342-2A>G
|
rs2107727475
|
|
NM_000094.4(COL7A1):c.4583G>A (p.Gly1528Asp)
|
rs2107718980
|
|
NM_000094.4(COL7A1):c.4616del (p.Pro1539fs)
|
rs2107717630
|
|
NM_000094.4(COL7A1):c.4635+5G>A
|
rs1170510858
|
|
NM_000094.4(COL7A1):c.4783G>C (p.Gly1595Arg)
|
rs121912840
|
|
NM_000094.4(COL7A1):c.4827_4834del (p.Gly1610fs)
|
rs2107711734
|
|
NM_000094.4(COL7A1):c.4871del (p.Pro1624fs)
|
rs1064797082
|
|
NM_000094.4(COL7A1):c.4980+1G>C
|
rs730880285
|
|
NM_000094.4(COL7A1):c.4999G>T (p.Gly1667Trp)
|
rs2107707008
|
|
NM_000094.4(COL7A1):c.5000G>A (p.Gly1667Glu)
|
rs864321654
|
|
NM_000094.4(COL7A1):c.5017G>A (p.Gly1673Arg)
|
rs2107706875
|
|
NM_000094.4(COL7A1):c.5124+2T>C
|
rs2107702819
|
|
NM_000094.4(COL7A1):c.5254_5257delinsTGAATCA (p.Gly1752_Pro1753delinsTer)
|
rs2107698884
|
|
NM_000094.4(COL7A1):c.5324del (p.Pro1775fs)
|
|
|
NM_000094.4(COL7A1):c.5443G>A (p.Gly1815Arg)
|
rs121912841
|
|
NM_000094.4(COL7A1):c.5532+1G>A
|
rs767182886
|
|
NM_000094.4(COL7A1):c.5532+1G>T
|
rs767182886
|
|
NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg)
|
rs1057517724
|
|
NM_000094.4(COL7A1):c.5668G>A (p.Gly1890Ser)
|
rs2107682264
|
|
NM_000094.4(COL7A1):c.5669G>T (p.Gly1890Val)
|
rs2107682252
|
|
NM_000094.4(COL7A1):c.5679del (p.Pro1894fs)
|
rs2107682223
|
|
NM_000094.4(COL7A1):c.5783G>A (p.Gly1928Glu)
|
rs1560219171
|
|
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter)
|
rs757415879
|
|
NM_000094.4(COL7A1):c.5819del (p.Pro1940fs)
|
rs1575442301
|
|
NM_000094.4(COL7A1):c.5830C>T (p.Arg1944Trp)
|
|
|
NM_000094.4(COL7A1):c.5870G>A (p.Arg1957Gln)
|
|
|
NM_000094.4(COL7A1):c.5924_5927del (p.Glu1975fs)
|
rs1064797080
|
|
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys)
|
rs1055680335
|
|
NM_000094.4(COL7A1):c.6023G>T (p.Arg2008Leu)
|
|
|
NM_000094.4(COL7A1):c.6044G>A (p.Gly2015Glu)
|
rs121912843
|
|
NM_000094.4(COL7A1):c.6073G>A (p.Gly2025Ser)
|
rs2107674627
|
|
NM_000094.4(COL7A1):c.6081dup (p.Gly2028fs)
|
rs780623622
|
|
NM_000094.4(COL7A1):c.6103del (p.Glu2035fs)
|
rs2107674323
|
|
NM_000094.4(COL7A1):c.6145G>A (p.Gly2049Arg)
|
rs1189071165
|
|
NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)
|
rs1410793870
|
|
NM_000094.4(COL7A1):c.6269del (p.Pro2090fs)
|
rs2044195570
|
|
NM_000094.4(COL7A1):c.6280-2_6281del
|
rs2107670544
|
|
NM_000094.4(COL7A1):c.6501G>T (p.Pro2167=)
|
rs767539005
|
|
NM_000094.4(COL7A1):c.6508C>T (p.Gln2170Ter)
|
rs1461012195
|
|
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)
|
rs768128088
|
|
NM_000094.4(COL7A1):c.6573+5G>A
|
rs2107663986
|
|
NM_000094.4(COL7A1):c.657del (p.Gly220fs)
|
rs1575494051
|
|
NM_000094.4(COL7A1):c.6647G>A (p.Gly2216Glu)
|
rs781720055
|
|
NM_000094.4(COL7A1):c.6652-2A>G
|
|
|
NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser)
|
rs2107661505
|
|
NM_000094.4(COL7A1):c.6707G>A (p.Gly2236Asp)
|
rs2107661433
|
|
NM_000094.4(COL7A1):c.6733G>A (p.Gly2245Ser)
|
rs2107660536
|
|
NM_000094.4(COL7A1):c.6759_6760del (p.Gly2254fs)
|
|
|
NM_000094.4(COL7A1):c.676C>T (p.Arg226Ter)
|
rs753819164
|
|
NM_000094.4(COL7A1):c.682+5G>A
|
rs767647070
|
|
NM_000094.4(COL7A1):c.6832G>C (p.Gly2278Arg)
|
rs1186008166
|
|
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg)
|
rs121912839
|
|
NM_000094.4(COL7A1):c.6926A>C (p.Lys2309Thr)
|
rs2107657132
|
|
NM_000094.4(COL7A1):c.6927G>C (p.Lys2309Asn)
|
|
|
NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=)
|
rs1362309822
|
|
NM_000094.4(COL7A1):c.7069G>C (p.Gly2357Arg)
|
|
|
NM_000094.4(COL7A1):c.7104+3A>T
|
rs749077987
|
|
NM_000094.4(COL7A1):c.7157G>A (p.Gly2386Asp)
|
|
|
NM_000094.4(COL7A1):c.7244dup (p.Met2415fs)
|
rs1336686272
|
|
NM_000094.4(COL7A1):c.7249C>T (p.Gln2417Ter)
|
rs983476178
|
|
NM_000094.4(COL7A1):c.7256G>A (p.Gly2419Asp)
|
|
|
NM_000094.4(COL7A1):c.7272+1G>A
|
rs2107648492
|
|
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter)
|
rs765529435
|
|
NM_000094.4(COL7A1):c.7521+2T>C
|
rs2107643652
|
|
NM_000094.4(COL7A1):c.7621C>T (p.Arg2541Ter)
|
rs2107641787
|
|
NM_000094.4(COL7A1):c.7624G>A (p.Gly2542Arg)
|
|
|
NM_000094.4(COL7A1):c.7708del (p.Asp2570fs)
|
rs2107639823
|
|
NM_000094.4(COL7A1):c.7768G>C (p.Gly2590Arg)
|
rs2043715843
|
|
NM_000094.4(COL7A1):c.7795-2A>G
|
rs2107637442
|
|
NM_000094.4(COL7A1):c.7929+11_7929+26del
|
rs773394779
|
|
NM_000094.4(COL7A1):c.793C>T (p.Gln265Ter)
|
|
|
NM_000094.4(COL7A1):c.8046+3A>T
|
rs2107634885
|
|
NM_000094.4(COL7A1):c.8047-2A>C
|
rs2107633400
|
|
NM_000094.4(COL7A1):c.8075G>A (p.Gly2692Asp)
|
|
|
NM_000094.4(COL7A1):c.80A>T (p.Glu27Val)
|
rs2107811799
|
|
NM_000094.4(COL7A1):c.8109+5G>C
|
|
|
NM_000094.4(COL7A1):c.8117del (p.Pro2706fs)
|
rs34040119
|
|
NM_000094.4(COL7A1):c.8200G>C (p.Gly2734Arg)
|
rs2107632563
|
|
NM_000094.4(COL7A1):c.8219G>C (p.Gly2740Ala)
|
rs745691610
|
|
NM_000094.4(COL7A1):c.8226+1G>C
|
|
|
NM_000094.4(COL7A1):c.8244del (p.Gly2749fs)
|
rs2107632018
|
|
NM_000094.4(COL7A1):c.8245G>T (p.Gly2749Ter)
|
|
|
NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu)
|
rs2107631988
|
|
NM_000094.4(COL7A1):c.8278G>A (p.Gly2760Arg)
|
rs1064797081
|
|
NM_000094.4(COL7A1):c.8304+1G>A
|
rs759579761
|
|
NM_000094.4(COL7A1):c.8357_8358+4del
|
rs2107631188
|
|
NM_000094.4(COL7A1):c.8416_8417del (p.Gly2806fs)
|
rs2107628480
|
|
NM_000094.4(COL7A1):c.846G>A (p.Glu282=)
|
rs770216458
|
|
NM_000094.4(COL7A1):c.84A>G (p.Arg28=)
|
rs1559444716
|
|
NM_000094.4(COL7A1):c.8524_8527+10del
|
rs566181351
|
|
NM_000094.4(COL7A1):c.8541del (p.Glu2848fs)
|
rs2043547588
|
|
NM_000094.4(COL7A1):c.8569G>T (p.Glu2857Ter)
|
rs372166543
|
|
NM_000094.4(COL7A1):c.8729G>T (p.Gly2910Val)
|
rs1242922135
|
|
NM_000094.4(COL7A1):c.933C>A (p.Tyr311Ter)
|
rs121912830
|
|
NM_000094.4(COL7A1):c.976+4A>T
|
rs2107794243
|
|
NM_000094.4(COL7A1):c.977-1G>C
|
rs2107793500
|
|