NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)
|
rs145068043
|
0.00020
|
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=)
|
rs200972872
|
0.00010
|
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)
|
rs767539005
|
0.00006
|
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)
|
rs139318843
|
0.00005
|
NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys)
|
rs779942952
|
0.00004
|
NM_000094.4(COL7A1):c.5499C>T (p.Gly1833=)
|
rs758886532
|
0.00003
|
NM_000094.4(COL7A1):c.497dup (p.Val168fs)
|
rs766902987
|
0.00002
|
NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys)
|
rs778035441
|
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.1573C>T (p.Arg525Ter)
|
rs368007918
|
0.00001
|
NM_000094.4(COL7A1):c.3140-1G>A
|
rs886041187
|
0.00001
|
NM_000094.4(COL7A1):c.4899+31G>A
|
rs370500985
|
0.00001
|
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter)
|
rs760063197
|
0.00001
|
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu)
|
rs121912845
|
0.00001
|
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter)
|
rs746053763
|
0.00001
|
NM_000094.4(COL7A1):c.553C>T (p.Arg185Ter)
|
rs886041186
|
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.6686C>T (p.Pro2229Leu)
|
rs1397883643
|
0.00001
|
NM_000094.4(COL7A1):c.6767C>T (p.Pro2256Leu)
|
rs1160109522
|
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.7097G>A (p.Gly2366Asp)
|
rs2043899331
|
0.00001
|
NM_000094.4(COL7A1):c.7380+2T>C
|
rs1249145909
|
0.00001
|
NM_000094.4(COL7A1):c.7651G>C (p.Gly2551Arg)
|
rs1465411279
|
0.00001
|
NM_000094.4(COL7A1):c.7930-1G>C
|
rs757816953
|
0.00001
|
NM_000094.4(COL7A1):c.8107C>T (p.Arg2703Trp)
|
rs759039839
|
0.00001
|
NM_000094.4(COL7A1):c.977-33A>C
|
rs759455445
|
0.00001
|
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr)
|
rs80338755
|
0.00001
|
NM_000213.5(ITGB4):c.3040C>T (p.Arg1014Trp)
|
rs1164329850
|
0.00001
|
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter)
|
rs759518184
|
0.00001
|
NM_000424.4(KRT5):c.1406C>G (p.Thr469Ser)
|
rs1264710617
|
0.00001
|
NM_000424.4(KRT5):c.508G>A (p.Glu170Lys)
|
rs59115483
|
0.00001
|
NM_000494.4(COL17A1):c.2596G>A (p.Gly866Arg)
|
rs768705886
|
0.00001
|
NM_000494.4(COL17A1):c.3676C>T (p.Arg1226Ter)
|
rs121912769
|
0.00001
|
NM_201384.3(PLEC):c.3850C>T (p.Leu1284Phe)
|
rs782169513
|
0.00001
|
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp)
|
rs80338756
|
0.00001
|
NC_000003.12:g.48595347G>A
|
rs2046013117
|
|
NM_000094.4(COL7A1):c.126dup (p.Leu43fs)
|
rs2045934591
|
|
NM_000094.4(COL7A1):c.1423C>T (p.Gln475Ter)
|
rs1482450152
|
|
NM_000094.4(COL7A1):c.1507G>A (p.Gly503Arg)
|
rs2045711151
|
|
NM_000094.4(COL7A1):c.1758del (p.Ser587fs)
|
rs2045631974
|
|
NM_000094.4(COL7A1):c.2044C>T (p.Arg682Ter)
|
rs1262422383
|
|
NM_000094.4(COL7A1):c.2142A>G (p.Gly714=)
|
rs2045550860
|
|
NM_000094.4(COL7A1):c.2305_2314delinsTT (p.Val769fs)
|
rs2045526309
|
|
NM_000094.4(COL7A1):c.2588C>G (p.Pro863Arg)
|
rs968625343
|
|
NM_000094.4(COL7A1):c.267-3C>G
|
rs1559441291
|
|
NM_000094.4(COL7A1):c.2722_2723del (p.Gln908fs)
|
rs2045393864
|
|
NM_000094.4(COL7A1):c.2737G>A (p.Gly913Arg)
|
rs765353150
|
|
NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs)
|
rs2045388619
|
|
NM_000094.4(COL7A1):c.2984dup (p.Gly996fs)
|
rs2045352552
|
|
NM_000094.4(COL7A1):c.2992+2T>G
|
rs1575476280
|
|
NM_000094.4(COL7A1):c.3130C>T (p.Gln1044Ter)
|
rs1205027821
|
|
NM_000094.4(COL7A1):c.3148del (p.Arg1050fs)
|
rs2045324382
|
|
NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs)
|
rs1235811820
|
|
NM_000094.4(COL7A1):c.3277-1G>C
|
rs2045289296
|
|
NM_000094.4(COL7A1):c.3294C>G (p.Tyr1098Ter)
|
rs1241474192
|
|
NM_000094.4(COL7A1):c.336C>G (p.Tyr112Ter)
|
rs2045866462
|
|
NM_000094.4(COL7A1):c.3759+1G>T
|
rs2045220016
|
|
NM_000094.4(COL7A1):c.3759+2T>G
|
rs2045219860
|
|
NM_000094.4(COL7A1):c.3995G>A (p.Gly1332Asp)
|
rs2045124635
|
|
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)
|
rs1156352791
|
|
NM_000094.4(COL7A1):c.4128del (p.Gly1377fs)
|
rs1575466699
|
|
NM_000094.4(COL7A1):c.4147G>A (p.Gly1383Arg)
|
rs2045046700
|
|
NM_000094.4(COL7A1):c.4197+1G>T
|
rs1401166141
|
|
NM_000094.4(COL7A1):c.4343G>A (p.Gly1448Asp)
|
rs1202682853
|
|
NM_000094.4(COL7A1):c.4401+1G>A
|
rs2044949727
|
|
NM_000094.4(COL7A1):c.4434dup (p.Lys1479fs)
|
rs2044929403
|
|
NM_000094.4(COL7A1):c.448G>C (p.Gly150Arg)
|
rs757715378
|
|
NM_000094.4(COL7A1):c.4550_4554del (p.Ala1517fs)
|
rs756897026
|
|
NM_000094.4(COL7A1):c.5017_5018del (p.Gly1673fs)
|
rs2044681542
|
|
NM_000094.4(COL7A1):c.5130_5131insCTCAC (p.Thr1711fs)
|
rs2044604844
|
|
NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs)
|
rs770456964
|
|
NM_000094.4(COL7A1):c.5287C>T (p.Arg1763Ter)
|
rs1360704374
|
|
NM_000094.4(COL7A1):c.5327G>A (p.Gly1776Glu)
|
rs2044551330
|
|
NM_000094.4(COL7A1):c.5381G>A (p.Gly1794Glu)
|
rs2044547049
|
|
NM_000094.4(COL7A1):c.5390G>A (p.Gly1797Asp)
|
rs2044523630
|
|
NM_000094.4(COL7A1):c.5407G>A (p.Gly1803Arg)
|
rs2044522375
|
|
NM_000094.4(COL7A1):c.5449C>T (p.Gln1817Ter)
|
rs2044485662
|
|
NM_000094.4(COL7A1):c.5532+1G>T
|
rs767182886
|
|
NM_000094.4(COL7A1):c.5532+6T>C
|
rs1186291778
|
|
NM_000094.4(COL7A1):c.5561_5565del (p.Gly1854fs)
|
rs2044357264
|
|
NM_000094.4(COL7A1):c.5569-11_5569-3del
|
rs2044350714
|
|
NM_000094.4(COL7A1):c.5576_5577del (p.Lys1859fs)
|
rs2044349915
|
|
NM_000094.4(COL7A1):c.5755G>A (p.Gly1919Arg)
|
rs2044302053
|
|
NM_000094.4(COL7A1):c.5771A>G (p.Gln1924Arg)
|
rs746824716
|
|
NM_000094.4(COL7A1):c.5892_5905del (p.Asp1964fs)
|
rs2044251759
|
|
NM_000094.4(COL7A1):c.58_70del (p.Arg20fs)
|
rs2045987838
|
|
NM_000094.4(COL7A1):c.5932C>T (p.Arg1978Ter)
|
rs1368134215
|
|
NM_000094.4(COL7A1):c.5944_5945delinsTA (p.Gly1982Ter)
|
rs2044247868
|
|
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys)
|
rs1055680335
|
|
NM_000094.4(COL7A1):c.6034G>A (p.Gly2012Ser)
|
rs2044234082
|
|
NM_000094.4(COL7A1):c.6041_6042del (p.Gln2014fs)
|
rs2044233322
|
|
NM_000094.4(COL7A1):c.6044G>T (p.Gly2015Val)
|
rs121912843
|
|
NM_000094.4(COL7A1):c.6081dup (p.Gly2028fs)
|
rs780623622
|
|
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg)
|
rs762162799
|
|
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg)
|
rs121912844
|
|
NM_000094.4(COL7A1):c.6119G>A (p.Gly2040Asp)
|
rs2044225406
|
|
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg)
|
rs121912836
|
|
NM_000094.4(COL7A1):c.6132_6133insAGGCTC (p.Leu2044_Pro2045insArgLeu)
|
rs2044224449
|
|
NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)
|
rs1410793870
|
|
NM_000094.4(COL7A1):c.6178_6179del (p.Arg2060fs)
|
rs2044219708
|
|
NM_000094.4(COL7A1):c.6181-2A>G
|
rs2044208947
|
|
NM_000094.4(COL7A1):c.6182G>T (p.Gly2061Val)
|
rs2044208810
|
|
NM_000094.4(COL7A1):c.6266_6269del (p.Pro2089fs)
|
rs2044195570
|
|
NM_000094.4(COL7A1):c.6501G>T (p.Pro2167=)
|
rs767539005
|
|
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)
|
rs768128088
|
|
NM_000094.4(COL7A1):c.6573+1G>C
|
rs1575434262
|
|
NM_000094.4(COL7A1):c.6574-1G>C
|
rs2044079243
|
|
NM_000094.4(COL7A1):c.6618+1G>A
|
rs2044077001
|
|
NM_000094.4(COL7A1):c.6662G>C (p.Gly2221Ala)
|
rs200382597
|
|
NM_000094.4(COL7A1):c.6670G>T (p.Gly2224Ter)
|
rs373768300
|
|
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg)
|
rs121912839
|
|
NM_000094.4(COL7A1):c.6861A>G (p.Gly2287=)
|
rs1315644130
|
|
NM_000094.4(COL7A1):c.6900+2T>G
|
rs2044013947
|
|
NM_000094.4(COL7A1):c.7104+5G>A
|
rs2043898537
|
|
NM_000094.4(COL7A1):c.7249C>T (p.Gln2417Ter)
|
rs983476178
|
|
NM_000094.4(COL7A1):c.7270C>T (p.Arg2424Trp)
|
rs1189942401
|
|
NM_000094.4(COL7A1):c.7272+5G>A
|
rs2043871373
|
|
NM_000094.4(COL7A1):c.7283G>T (p.Gly2428Val)
|
rs1247022294
|
|
NM_000094.4(COL7A1):c.7300G>A (p.Gly2434Arg)
|
rs2043856489
|
|
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter)
|
rs765529435
|
|
NM_000094.4(COL7A1):c.7559G>T (p.Gly2520Val)
|
rs2043785663
|
|
NM_000094.4(COL7A1):c.7686G>C (p.Lys2562Asn)
|
rs2043771421
|
|
NM_000094.4(COL7A1):c.7756dup (p.Gln2586fs)
|
rs2043739526
|
|
NM_000094.4(COL7A1):c.7760G>A (p.Gly2587Asp)
|
rs2043716834
|
|
NM_000094.4(COL7A1):c.7864del (p.Arg2622fs)
|
rs2043688497
|
|
NM_000094.4(COL7A1):c.7885G>C (p.Gly2629Arg)
|
rs2043678898
|
|
NM_000094.4(COL7A1):c.7929+2T>C
|
rs113597796
|
|
NM_000094.4(COL7A1):c.8103_8104dup (p.Glu2702fs)
|
rs2043642775
|
|
NM_000094.4(COL7A1):c.8165G>T (p.Gly2722Val)
|
rs759949767
|
|
NM_000094.4(COL7A1):c.8209G>C (p.Gly2737Arg)
|
rs2043632416
|
|
NM_000094.4(COL7A1):c.8304+1G>A
|
rs759579761
|
|
NM_000094.4(COL7A1):c.84A>G (p.Arg28=)
|
rs1559444716
|
|
NM_000094.4(COL7A1):c.8537_8565del (p.Pro2846fs)
|
rs2043546624
|
|
NM_000094.4(COL7A1):c.8572T>C (p.Tyr2858His)
|
rs2043545754
|
|
NM_000094.4(COL7A1):c.86-8C>A
|
rs1012398135
|
|
NM_000094.4(COL7A1):c.8717del (p.Pro2906fs)
|
rs2043532784
|
|
NM_000094.4(COL7A1):c.887del (p.Gly296fs)
|
rs1131691385
|
|
NM_000094.4(COL7A1):c.976+50_977-39del
|
rs2045775921
|
|
NM_000210.4(ITGA6):c.1286C>A (p.Ser429Ter)
|
rs1686177024
|
|
NM_000213.5(ITGB4):c.1370G>A (p.Cys457Tyr)
|
rs2060870463
|
|
NM_000213.5(ITGB4):c.2012G>C (p.Cys671Ser)
|
rs2061001234
|
|
NM_000213.5(ITGB4):c.2465T>C (p.Leu822Ser)
|
rs902551587
|
|
NM_000213.5(ITGB4):c.2633+1G>A
|
rs1348061804
|
|
NM_000213.5(ITGB4):c.2783-2A>G
|
rs758551913
|
|
NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs)
|
rs2061333185
|
|
NM_000213.5(ITGB4):c.3674G>A (p.Arg1225His)
|
rs121912468
|
|
NM_000213.5(ITGB4):c.3707_3725del (p.Thr1236fs)
|
rs2061355653
|
|
NM_000213.5(ITGB4):c.472_566+184del
|
rs2060771091
|
|
NM_000213.5(ITGB4):c.701G>T (p.Gly234Val)
|
rs1038415538
|
|
NM_000213.5(ITGB4):c.847C>T (p.Arg283Cys)
|
rs1422797135
|
|
NM_000213.5(ITGB4):c.997T>G (p.Tyr333Asp)
|
rs761952496
|
|
NM_000228.3(LAMB3):c.1634del (p.Gly545fs)
|
rs1666434871
|
|
NM_000228.3(LAMB3):c.2047del (p.Glu683fs)
|
rs1666320034
|
|
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter)
|
rs1064793896
|
|
NM_000228.3(LAMB3):c.323T>C (p.Leu108Pro)
|
rs1464871076
|
|
NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr)
|
rs267607458
|
|
NM_000424.4(KRT5):c.1283C>T (p.Ala428Val)
|
rs59243757
|
|
NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro)
|
rs57599352
|
|
NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln)
|
rs1938615785
|
|
NM_000424.4(KRT5):c.1398G>C (p.Glu466Asp)
|
rs62642056
|
|
NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys)
|
rs59190510
|
|
NM_000424.4(KRT5):c.1649del (p.Gly550fs)
|
rs61126080
|
|
NM_000424.4(KRT5):c.495G>T (p.Arg165Ser)
|
rs267607456
|
|
NM_000424.4(KRT5):c.556-16C>G
|
rs376462752
|
|
NM_000424.4(KRT5):c.556G>A (p.Val186Met)
|
rs121912475
|
|
NM_000424.4(KRT5):c.556G>T (p.Val186Leu)
|
rs121912475
|
|
NM_000424.4(KRT5):c.557T>A (p.Val186Glu)
|
rs267607457
|
|
NM_000424.4(KRT5):c.571C>G (p.Gln191Glu)
|
rs1938667202
|
|
NM_000424.4(KRT5):c.579C>G (p.Asn193Lys)
|
rs60586163
|
|
NM_000424.4(KRT5):c.587T>C (p.Leu196Pro)
|
rs1938666838
|
|
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu)
|
rs57499817
|
|
NM_000424.4(KRT5):c.771delG
|
rs1938645889
|
|
NM_000424.4(KRT5):c.961A>C (p.Thr321Pro)
|
rs1938635857
|
|
NM_000424.4(KRT5):c.983A>T (p.Asp328Val)
|
rs57142010
|
|
NM_000494.4(COL17A1):c.1571_1572dup (p.Gln525fs)
|
rs2086520075
|
|
NM_000494.4(COL17A1):c.2228-3_2235delinsTTG
|
rs1554848576
|
|
NM_000494.4(COL17A1):c.2576dup (p.Gly860fs)
|
rs2086359795
|
|
NM_000494.4(COL17A1):c.3766+1G>A
|
rs2086256572
|
|
NM_000494.4(COL17A1):c.3827dup (p.Gly1277fs)
|
rs751058779
|
|
NM_000494.4(COL17A1):c.3828_3829insC (p.Gly1277fs)
|
rs2086249404
|
|
NM_000494.4(COL17A1):c.4156+1G>A
|
rs373469159
|
|
NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter)
|
rs773920224
|
|
NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg)
|
rs1907401835
|
|
NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln)
|
rs1907400034
|
|
NM_000526.5(KRT14):c.1231_1233del (p.Glu411del)
|
rs267607389
|
|
NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys)
|
rs59442925
|
|
NM_000526.5(KRT14):c.1274+5G>C
|
rs1907395416
|
|
NM_000526.5(KRT14):c.346A>T (p.Lys116Ter)
|
rs60338701
|
|
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)
|
rs60399023
|
|
NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp)
|
rs60470268
|
|
NM_000526.5(KRT14):c.397G>T (p.Val133Leu)
|
rs61027685
|
|
NM_000526.5(KRT14):c.749del (p.Lys250fs)
|
rs267607406
|
|
NM_005562.3(LAMC2):c.2015-2A>G
|
rs1659834817
|
|
NM_005562.3(LAMC2):c.2074C>T (p.Gln692Ter)
|
rs1659836821
|
|
NM_005562.3(LAMC2):c.2489dup (p.Leu830fs)
|
rs774734592
|
|
NM_005562.3(LAMC2):c.3343_3344del (p.Val1115fs)
|
rs1660171997
|
|
NM_005562.3(LAMC2):c.379G>T (p.Gly127Trp)
|
rs779546941
|
|
NM_005562.3(LAMC2):c.404+3_404+6del
|
rs1659229440
|
|
NM_006846.4(SPINK5):c.882+1_882+3del
|
rs750225476
|
|
NM_017671.5(FERMT1):c.1198T>C (p.Ser400Pro)
|
rs869312718
|
|
NM_017671.5(FERMT1):c.1264+1G>A
|
rs1982268239
|
|
NM_017671.5(FERMT1):c.1264+363_1372-602del
|
|
|
NM_017671.5(FERMT1):c.1371+4A>G
|
rs1064793979
|
|
NM_017671.5(FERMT1):c.1378C>T (p.Gln460Ter)
|
rs1982142302
|
|
NM_017671.5(FERMT1):c.1867_1869del (p.Ile623del)
|
rs869312721
|
|
NM_017671.5(FERMT1):c.341C>G (p.Ser114Ter)
|
rs1983080839
|
|
NM_198129.4(LAMA3):c.6319-1G>T
|
rs2081155250
|
|
NM_198129.4(LAMA3):c.6348_6352delinsCTGGCAAGA (p.Glu2117fs)
|
rs2081156116
|
|
NM_198129.4(LAMA3):c.9856G>T (p.Ala3286Ser)
|
rs2082978607
|
|
NM_201384.3(PLEC):c.5663del (p.Lys1888fs)
|
rs1824069966
|
|
NM_201384.3(PLEC):c.9294del (p.Glu3099fs)
|
rs1822243280
|
|