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.6501G>A (p.Pro2167=)
|
rs767539005
|
0.00006
|
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=)
|
rs201728948
|
0.00006
|
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)
|
rs139318843
|
0.00005
|
NM_000094.4(COL7A1):c.8803C>T (p.Gln2935Ter)
|
rs767051948
|
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.6501+1G>C
|
rs759644973
|
0.00003
|
NM_000094.4(COL7A1):c.682+1G>A
|
rs775288140
|
0.00003
|
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter)
|
rs143457874
|
0.00003
|
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)
|
rs144023803
|
0.00002
|
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter)
|
rs761927109
|
0.00002
|
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.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.1304G>A (p.Trp435Ter)
|
rs375539799
|
0.00001
|
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.3140-1G>A
|
rs886041187
|
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.4899+31G>A
|
rs370500985
|
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.5096C>T (p.Pro1699Leu)
|
rs121912845
|
0.00001
|
NM_000094.4(COL7A1):c.5108G>A (p.Gly1703Glu)
|
rs770304825
|
0.00001
|
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter)
|
rs746053763
|
0.00001
|
NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp)
|
rs1032335328
|
0.00001
|
NM_000094.4(COL7A1):c.5344G>A (p.Gly1782Arg)
|
rs374718902
|
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.565C>T (p.Gln189Ter)
|
rs1486141784
|
0.00001
|
NM_000094.4(COL7A1):c.5869C>T (p.Arg1957Trp)
|
rs747081862
|
0.00001
|
NM_000094.4(COL7A1):c.6187C>T (p.Arg2063Trp)
|
rs121912849
|
0.00001
|
NM_000094.4(COL7A1):c.6190G>A (p.Gly2064Arg)
|
rs866061439
|
0.00001
|
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)
|
rs121912855
|
0.00001
|
NM_000094.4(COL7A1):c.6262G>A (p.Gly2088Arg)
|
rs573432153
|
0.00001
|
NM_000094.4(COL7A1):c.6395G>A (p.Gly2132Asp)
|
rs755669902
|
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.6994C>T (p.Arg2332Ter)
|
rs765027608
|
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.7078G>A (p.Gly2360Arg)
|
rs916512411
|
0.00001
|
NM_000094.4(COL7A1):c.7097G>A (p.Gly2366Asp)
|
rs2043899331
|
0.00001
|
NM_000094.4(COL7A1):c.7234C>T (p.Arg2412Ter)
|
rs1342522878
|
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.7651G>C (p.Gly2551Arg)
|
rs1465411279
|
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.7930-1G>C
|
rs757816953
|
0.00001
|
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg)
|
rs121912851
|
0.00001
|
NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter)
|
rs2043645754
|
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.8245G>A (p.Gly2749Arg)
|
rs121912853
|
0.00001
|
NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys)
|
rs121912828
|
0.00001
|
NM_000094.4(COL7A1):c.977-33A>C
|
rs759455445
|
0.00001
|
LRG_286t1:c.[520G>A];[2711-4_2711-1delCCAG]
|
|
|
NC_000003.12:g.48589471del
|
rs1336602322
|
|
NC_000003.12:g.48595347G>A
|
rs2046013117
|
|
NM_000094.3(COL7A1):c.4603del
|
rs2044824444
|
|
NM_000094.3(COL7A1):c.7760del
|
rs2107638590
|
|
NM_000094.4(COL7A1):c.126dup (p.Leu43fs)
|
rs2045934591
|
|
NM_000094.4(COL7A1):c.1319del (p.Glu440fs)
|
rs1559435706
|
|
NM_000094.4(COL7A1):c.1423C>T (p.Gln475Ter)
|
rs1482450152
|
|
NM_000094.4(COL7A1):c.1452_1453del (p.Tyr485fs)
|
rs752558942
|
|
NM_000094.4(COL7A1):c.1507G>A (p.Gly503Arg)
|
rs2045711151
|
|
NM_000094.4(COL7A1):c.1606C>T (p.Gln536Ter)
|
|
|
NM_000094.4(COL7A1):c.1637-1G>A
|
rs886058642
|
|
NM_000094.4(COL7A1):c.1758del (p.Ser587fs)
|
rs2045631974
|
|
NM_000094.4(COL7A1):c.1A>G (p.Met1Val)
|
rs1064797078
|
|
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.2318_2321dup (p.Glu774delinsAspTer)
|
rs1064797079
|
|
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs)
|
rs746056280
|
|
NM_000094.4(COL7A1):c.2588C>G (p.Pro863Arg)
|
rs968625343
|
|
NM_000094.4(COL7A1):c.267-3C>G
|
rs1559441291
|
|
NM_000094.4(COL7A1):c.2699G>A (p.Trp900Ter)
|
rs1349541188
|
|
NM_000094.4(COL7A1):c.2708del (p.Glu903fs)
|
rs2107763474
|
|
NM_000094.4(COL7A1):c.2722C>T (p.Gln908Ter)
|
rs2045393987
|
|
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.2785C>T (p.Gln929Ter)
|
rs2107760251
|
|
NM_000094.4(COL7A1):c.2858_2859del (p.Glu953fs)
|
rs2107757949
|
|
NM_000094.4(COL7A1):c.2984dup (p.Gly996fs)
|
rs2045352552
|
|
NM_000094.4(COL7A1):c.2989C>T (p.Gln997Ter)
|
rs1559423385
|
|
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.329_332dup (p.Ser111_Tyr112insTer)
|
rs1256976418
|
|
NM_000094.4(COL7A1):c.336C>G (p.Tyr112Ter)
|
rs2045866462
|
|
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.3631C>T (p.Gln1211Ter)
|
rs747522386
|
|
NM_000094.4(COL7A1):c.3759+1G>T
|
rs2045220016
|
|
NM_000094.4(COL7A1):c.3759+2T>G
|
rs2045219860
|
|
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs)
|
rs757688782
|
|
NM_000094.4(COL7A1):c.3861del (p.Pro1289fs)
|
rs1575470363
|
|
NM_000094.4(COL7A1):c.3894+1G>A
|
rs2107741719
|
|
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs)
|
rs747912732
|
|
NM_000094.4(COL7A1):c.3995G>A (p.Gly1332Asp)
|
rs2045124635
|
|
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>C (p.Gly1347Arg)
|
rs121912833
|
|
NM_000094.4(COL7A1):c.4039G>T (p.Gly1347Trp)
|
rs121912833
|
|
NM_000094.4(COL7A1):c.4048-1G>T
|
rs2045079112
|
|
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter)
|
rs1203706188
|
|
NM_000094.4(COL7A1):c.4119+1G>T
|
rs1575467199
|
|
NM_000094.4(COL7A1):c.4120-1G>C
|
rs1299648939
|
|
NM_000094.4(COL7A1):c.4128del (p.Gly1377fs)
|
rs1575466699
|
|
NM_000094.4(COL7A1):c.4147G>A (p.Gly1383Arg)
|
rs2045046700
|
|
NM_000094.4(COL7A1):c.4172dup (p.Gly1392fs)
|
|
|
NM_000094.4(COL7A1):c.4197+1G>T
|
rs1401166141
|
|
NM_000094.4(COL7A1):c.4198G>A (p.Gly1400Ser)
|
rs2107731142
|
|
NM_000094.4(COL7A1):c.4233del (p.Gly1412fs)
|
rs1560241522
|
|
NM_000094.4(COL7A1):c.4250del (p.Gly1417fs)
|
|
|
NM_000094.4(COL7A1):c.4322del (p.Pro1441fs)
|
rs753185460
|
|
NM_000094.4(COL7A1):c.4342-2A>G
|
rs2107727475
|
|
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.4556G>A (p.Gly1519Asp)
|
rs121912835
|
|
NM_000094.4(COL7A1):c.4565G>A (p.Gly1522Glu)
|
rs387906605
|
|
NM_000094.4(COL7A1):c.4568del (p.Pro1523fs)
|
rs778165989
|
|
NM_000094.4(COL7A1):c.4616del (p.Pro1539fs)
|
rs2107717630
|
|
NM_000094.4(COL7A1):c.4635+1G>A
|
rs774890570
|
|
NM_000094.4(COL7A1):c.476del (p.Ala159fs)
|
|
|
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.4965C>T (p.Gly1655=)
|
rs1560232515
|
|
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.5254_5257delinsTGAATCA (p.Gly1752_Pro1753delinsTer)
|
rs2107698884
|
|
NM_000094.4(COL7A1):c.5261dup (p.Gly1755fs)
|
rs1057517723
|
|
NM_000094.4(COL7A1):c.5287C>T (p.Arg1763Ter)
|
rs1360704374
|
|
NM_000094.4(COL7A1):c.5318G>A (p.Gly1773Asp)
|
rs2107697174
|
|
NM_000094.4(COL7A1):c.5324del (p.Pro1775fs)
|
|
|
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.5443G>A (p.Gly1815Arg)
|
rs121912841
|
|
NM_000094.4(COL7A1):c.5449C>T (p.Gln1817Ter)
|
rs2044485662
|
|
NM_000094.4(COL7A1):c.548del (p.Leu183fs)
|
|
|
NM_000094.4(COL7A1):c.5532+1G>A
|
rs767182886
|
|
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.5679del (p.Pro1894fs)
|
rs2107682223
|
|
NM_000094.4(COL7A1):c.5720_5721delinsAT (p.Gly1907Asp)
|
rs1057517725
|
|
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.5772+1del
|
rs1295547257
|
|
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter)
|
rs757415879
|
|
NM_000094.4(COL7A1):c.5819del (p.Pro1940fs)
|
rs1575442301
|
|
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.5924_5927del (p.Glu1975fs)
|
rs1064797080
|
|
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.5959C>T (p.Gln1987Ter)
|
|
|
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.6016G>A (p.Gly2006Ser)
|
rs2107675136
|
|
NM_000094.4(COL7A1):c.6017G>A (p.Gly2006Asp)
|
rs121912842
|
|
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.6025G>A (p.Gly2009Arg)
|
rs2107675021
|
|
NM_000094.4(COL7A1):c.6034G>A (p.Gly2012Ser)
|
rs2044234082
|
|
NM_000094.4(COL7A1):c.6035G>A (p.Gly2012Asp)
|
rs2107674937
|
|
NM_000094.4(COL7A1):c.6041_6042del (p.Gln2014fs)
|
rs2044233322
|
|
NM_000094.4(COL7A1):c.6044G>A (p.Gly2015Glu)
|
rs121912843
|
|
NM_000094.4(COL7A1):c.6044G>T (p.Gly2015Val)
|
rs121912843
|
|
NM_000094.4(COL7A1):c.6073G>A (p.Gly2025Ser)
|
rs2107674627
|
|
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.6100G>A (p.Gly2034Arg)
|
rs121912844
|
|
NM_000094.4(COL7A1):c.6103del (p.Glu2035fs)
|
rs2107674323
|
|
NM_000094.4(COL7A1):c.6110G>A (p.Gly2037Glu)
|
rs121912846
|
|
NM_000094.4(COL7A1):c.6110G>T (p.Gly2037Val)
|
|
|
NM_000094.4(COL7A1):c.6118G>A (p.Gly2040Ser)
|
rs121912829
|
|
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.6136G>A (p.Gly2046Ser)
|
rs2107674135
|
|
NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)
|
rs1410793870
|
|
NM_000094.4(COL7A1):c.6164G>A (p.Gly2055Glu)
|
rs1553854678
|
|
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.6191G>A (p.Gly2064Glu)
|
rs2107672816
|
|
NM_000094.4(COL7A1):c.6209G>A (p.Gly2070Glu)
|
rs2107672732
|
|
NM_000094.4(COL7A1):c.6227G>A (p.Gly2076Asp)
|
rs121912850
|
|
NM_000094.4(COL7A1):c.6235G>A (p.Gly2079Arg)
|
rs2107671960
|
|
NM_000094.4(COL7A1):c.6266_6269del (p.Pro2089fs)
|
rs2044195570
|
|
NM_000094.4(COL7A1):c.6269del (p.Pro2090fs)
|
rs2044195570
|
|
NM_000094.4(COL7A1):c.6280-2_6281del
|
rs2107670544
|
|
NM_000094.4(COL7A1):c.6394-1G>A
|
|
|
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+1G>C
|
rs1575434262
|
|
NM_000094.4(COL7A1):c.6573+5G>A
|
rs2107663986
|
|
NM_000094.4(COL7A1):c.6574-1G>C
|
rs2044079243
|
|
NM_000094.4(COL7A1):c.657del (p.Gly220fs)
|
rs1575494051
|
|
NM_000094.4(COL7A1):c.6618+1G>A
|
rs2044077001
|
|
NM_000094.4(COL7A1):c.6646G>T (p.Gly2216Ter)
|
|
|
NM_000094.4(COL7A1):c.6647G>A (p.Gly2216Glu)
|
rs781720055
|
|
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.6697G>A (p.Gly2233Ser)
|
rs2107661505
|
|
NM_000094.4(COL7A1):c.6715G>A (p.Gly2239Ser)
|
|
|
NM_000094.4(COL7A1):c.6733G>A (p.Gly2245Ser)
|
rs2107660536
|
|
NM_000094.4(COL7A1):c.6745C>T (p.Gln2249Ter)
|
rs769294243
|
|
NM_000094.4(COL7A1):c.6751-1G>T
|
|
|
NM_000094.4(COL7A1):c.6751-2_6751-1del
|
rs760460054
|
|
NM_000094.4(COL7A1):c.6752G>A (p.Gly2251Glu)
|
rs121912834
|
|
NM_000094.4(COL7A1):c.6759_6760del (p.Gly2254fs)
|
|
|
NM_000094.4(COL7A1):c.676C>T (p.Arg226Ter)
|
rs753819164
|
|
NM_000094.4(COL7A1):c.6841G>C (p.Gly2281Arg)
|
|
|
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.6900+4A>G
|
rs1057518706
|
|
NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=)
|
rs1362309822
|
|
NM_000094.4(COL7A1):c.7104+5G>A
|
rs2043898537
|
|
NM_000094.4(COL7A1):c.7244dup (p.Met2415fs)
|
rs1336686272
|
|
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+1G>A
|
rs2107648492
|
|
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.7505G>A (p.Gly2502Glu)
|
|
|
NM_000094.4(COL7A1):c.751C>T (p.Gln251Ter)
|
rs1211890738
|
|
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.7708del (p.Asp2570fs)
|
rs2107639823
|
|
NM_000094.4(COL7A1):c.7756dup (p.Gln2586fs)
|
rs2043739526
|
|
NM_000094.4(COL7A1):c.7760G>A (p.Gly2587Asp)
|
rs2043716834
|
|
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs)
|
rs759990189
|
|
NM_000094.4(COL7A1):c.7795-2A>G
|
rs2107637442
|
|
NM_000094.4(COL7A1):c.7864del (p.Arg2622fs)
|
rs2043688497
|
|
NM_000094.4(COL7A1):c.7867G>T (p.Gly2623Cys)
|
rs121912831
|
|
NM_000094.4(COL7A1):c.7877G>A (p.Gly2626Asp)
|
rs2107636603
|
|
NM_000094.4(COL7A1):c.7885G>C (p.Gly2629Arg)
|
rs2043678898
|
|
NM_000094.4(COL7A1):c.7929+2T>C
|
rs113597796
|
|
NM_000094.4(COL7A1):c.793C>T (p.Gln265Ter)
|
|
|
NM_000094.4(COL7A1):c.8020G>C (p.Gly2674Arg)
|
rs2107635006
|
|
NM_000094.4(COL7A1):c.8045A>G (p.Lys2682Arg)
|
|
|
NM_000094.4(COL7A1):c.8093del (p.Gly2698fs)
|
|
|
NM_000094.4(COL7A1):c.8103_8104dup (p.Glu2702fs)
|
rs2043642775
|
|
NM_000094.4(COL7A1):c.8117del (p.Pro2706fs)
|
rs34040119
|
|
NM_000094.4(COL7A1):c.8156G>A (p.Gly2719Asp)
|
rs1164917118
|
|
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.8219G>C (p.Gly2740Ala)
|
rs745691610
|
|
NM_000094.4(COL7A1):c.8244del (p.Gly2749fs)
|
rs2107632018
|
|
NM_000094.4(COL7A1):c.8278G>A (p.Gly2760Arg)
|
rs1064797081
|
|
NM_000094.4(COL7A1):c.8304+1G>A
|
rs759579761
|
|
NM_000094.4(COL7A1):c.8329C>T (p.Arg2777Ter)
|
rs886039330
|
|
NM_000094.4(COL7A1):c.8335G>T (p.Glu2779Ter)
|
|
|
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.8537_8565del (p.Pro2846fs)
|
rs2043546624
|
|
NM_000094.4(COL7A1):c.8569G>T (p.Glu2857Ter)
|
rs372166543
|
|
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.933C>A (p.Tyr311Ter)
|
rs121912830
|
|
NM_000094.4(COL7A1):c.976+50_977-39del
|
rs2045775921
|
|