NM_000094.4(COL7A1):c.6206G>A (p.Arg2069His)
|
rs773938350
|
0.00005
|
NM_000094.4(COL7A1):c.5097G>A (p.Pro1699=)
|
rs369034739
|
0.00004
|
NM_000094.4(COL7A1):c.7344+1G>T
|
rs754469339
|
0.00003
|
NM_000094.4(COL7A1):c.4519-2del
|
rs778443262
|
0.00002
|
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His)
|
rs756258247
|
0.00002
|
NM_000094.4(COL7A1):c.7104+1G>A
|
rs772756089
|
0.00002
|
NM_000094.4(COL7A1):c.7437_7440+4del
|
rs750153731
|
0.00002
|
NM_000094.4(COL7A1):c.1358-2A>G
|
rs1432916221
|
0.00001
|
NM_000094.4(COL7A1):c.2587+40G>A
|
rs1158768165
|
0.00001
|
NM_000094.4(COL7A1):c.3831+1G>T
|
rs776841521
|
0.00001
|
NM_000094.4(COL7A1):c.4900-2A>C
|
rs1431252268
|
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.683-1G>A
|
rs2045812473
|
0.00001
|
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu)
|
rs1233025207
|
0.00001
|
NM_000094.4(COL7A1):c.7485+5G>A
|
rs988031901
|
0.00001
|
NM_000094.4(COL7A1):c.7615-2A>T
|
rs986004460
|
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.8440+1G>A
|
rs1001774733
|
0.00001
|
NM_000094.4(COL7A1):c.1093+1G>A
|
rs1307626649
|
|
NM_000094.4(COL7A1):c.1094-7_1101del
|
|
|
NM_000094.4(COL7A1):c.1240+1G>T
|
rs2107790996
|
|
NM_000094.4(COL7A1):c.1240+2T>A
|
|
|
NM_000094.4(COL7A1):c.1357+2T>A
|
|
|
NM_000094.4(COL7A1):c.1780+1G>T
|
|
|
NM_000094.4(COL7A1):c.1781-2A>G
|
rs2045623626
|
|
NM_000094.4(COL7A1):c.1906+1G>T
|
|
|
NM_000094.4(COL7A1):c.1907-2A>G
|
|
|
NM_000094.4(COL7A1):c.2171-2A>G
|
rs1158674229
|
|
NM_000094.4(COL7A1):c.2171-2A>T
|
|
|
NM_000094.4(COL7A1):c.2315-11_2316del
|
|
|
NM_000094.4(COL7A1):c.2582_2587+1del
|
|
|
NM_000094.4(COL7A1):c.2587+2T>C
|
|
|
NM_000094.4(COL7A1):c.2993-1G>C
|
|
|
NM_000094.4(COL7A1):c.2993-2A>G
|
rs1553612928
|
|
NM_000094.4(COL7A1):c.3139+1G>C
|
|
|
NM_000094.4(COL7A1):c.3723+1G>A
|
|
|
NM_000094.4(COL7A1):c.3760-1G>A
|
rs2107744367
|
|
NM_000094.4(COL7A1):c.3786+1G>A
|
|
|
NM_000094.4(COL7A1):c.3787-2A>G
|
|
|
NM_000094.4(COL7A1):c.3831+2T>C
|
rs2107742867
|
|
NM_000094.4(COL7A1):c.3894+1G>A
|
rs2107741719
|
|
NM_000094.4(COL7A1):c.3895-34_3905del
|
|
|
NM_000094.4(COL7A1):c.3975+1G>T
|
|
|
NM_000094.4(COL7A1):c.3975+2T>A
|
rs753368984
|
|
NM_000094.4(COL7A1):c.4012-2A>C
|
rs2107736723
|
|
NM_000094.4(COL7A1):c.4047+2T>C
|
rs1365148358
|
|
NM_000094.4(COL7A1):c.4048-2A>G
|
|
|
NM_000094.4(COL7A1):c.4120-1G>A
|
rs1299648939
|
|
NM_000094.4(COL7A1):c.4120-1G>C
|
rs1299648939
|
|
NM_000094.4(COL7A1):c.4147G>A (p.Gly1383Arg)
|
rs2045046700
|
|
NM_000094.4(COL7A1):c.4197+1G>T
|
rs1401166141
|
|
NM_000094.4(COL7A1):c.4224+1G>A
|
rs769954836
|
|
NM_000094.4(COL7A1):c.4278+1G>A
|
|
|
NM_000094.4(COL7A1):c.4278+2T>C
|
|
|
NM_000094.4(COL7A1):c.4279-1G>A
|
|
|
NM_000094.4(COL7A1):c.4341+2T>C
|
rs2044967603
|
|
NM_000094.4(COL7A1):c.4401+2T>A
|
|
|
NM_000094.4(COL7A1):c.4402-5_4402-2del
|
|
|
NM_000094.4(COL7A1):c.4437+1G>C
|
rs2107725932
|
|
NM_000094.4(COL7A1):c.4437+2T>G
|
rs2107725917
|
|
NM_000094.4(COL7A1):c.4438-2A>G
|
|
|
NM_000094.4(COL7A1):c.4483-1G>A
|
rs2044891130
|
|
NM_000094.4(COL7A1):c.4519-2A>C
|
|
|
NM_000094.4(COL7A1):c.4564-2A>C
|
|
|
NM_000094.4(COL7A1):c.4574G>A (p.Gly1525Glu)
|
|
|
NM_000094.4(COL7A1):c.4599+2T>C
|
|
|
NM_000094.4(COL7A1):c.4600-1G>A
|
rs2107717836
|
|
NM_000094.4(COL7A1):c.462_520+17del
|
|
|
NM_000094.4(COL7A1):c.4636-1G>A
|
|
|
NM_000094.4(COL7A1):c.4636-2A>G
|
|
|
NM_000094.4(COL7A1):c.4668+1G>C
|
|
|
NM_000094.4(COL7A1):c.4705G>A (p.Gly1569Arg)
|
|
|
NM_000094.4(COL7A1):c.4723-2A>C
|
|
|
NM_000094.4(COL7A1):c.4818+1G>C
|
|
|
NM_000094.4(COL7A1):c.4818+3_4818+6dup
|
|
|
NM_000094.4(COL7A1):c.4864G>A (p.Gly1622Ser)
|
|
|
NM_000094.4(COL7A1):c.4900-1G>C
|
|
|
NM_000094.4(COL7A1):c.4900-2A>G
|
rs1431252268
|
|
NM_000094.4(COL7A1):c.4936-1G>A
|
rs2044708601
|
|
NM_000094.4(COL7A1):c.4981G>A (p.Gly1661Arg)
|
|
|
NM_000094.4(COL7A1):c.4981G>C (p.Gly1661Arg)
|
|
|
NM_000094.4(COL7A1):c.5125-2A>T
|
rs2044605646
|
|
NM_000094.4(COL7A1):c.520+1G>C
|
rs2107799999
|
|
NM_000094.4(COL7A1):c.520+1G>T
|
rs2107799999
|
|
NM_000094.4(COL7A1):c.521-2A>G
|
rs112176369
|
|
NM_000094.4(COL7A1):c.521-6_521-1del
|
|
|
NM_000094.4(COL7A1):c.5235+1G>C
|
|
|
NM_000094.4(COL7A1):c.5271+1G>A
|
|
|
NM_000094.4(COL7A1):c.5307+1G>A
|
rs2107697936
|
|
NM_000094.4(COL7A1):c.5309G>T (p.Gly1770Val)
|
|
|
NM_000094.4(COL7A1):c.5440C>G (p.Arg1814Gly)
|
|
|
NM_000094.4(COL7A1):c.5529_5532+7del
|
rs2107690909
|
|
NM_000094.4(COL7A1):c.5532+1G>A
|
rs767182886
|
|
NM_000094.4(COL7A1):c.5604+2T>C
|
rs2107683470
|
|
NM_000094.4(COL7A1):c.5737-1G>A
|
rs1575442885
|
|
NM_000094.4(COL7A1):c.5737-2A>G
|
|
|
NM_000094.4(COL7A1):c.5820+1G>C
|
rs2107679315
|
|
NM_000094.4(COL7A1):c.5820+2T>C
|
rs1575442251
|
|
NM_000094.4(COL7A1):c.5821-2A>G
|
rs111775311
|
|
NM_000094.4(COL7A1):c.5869C>G (p.Arg1957Gly)
|
|
|
NM_000094.4(COL7A1):c.5979+1G>A
|
|
|
NM_000094.4(COL7A1):c.6023G>C (p.Arg2008Pro)
|
|
|
NM_000094.4(COL7A1):c.6034G>C (p.Gly2012Arg)
|
|
|
NM_000094.4(COL7A1):c.6044G>T (p.Gly2015Val)
|
rs121912843
|
|
NM_000094.4(COL7A1):c.6092G>T (p.Gly2031Val)
|
|
|
NM_000094.4(COL7A1):c.6146G>T (p.Gly2049Val)
|
|
|
NM_000094.4(COL7A1):c.6173G>A (p.Gly2058Glu)
|
|
|
NM_000094.4(COL7A1):c.6181-1G>T
|
|
|
NM_000094.4(COL7A1):c.6181-4del
|
rs2044209233
|
|
NM_000094.4(COL7A1):c.6217-2A>G
|
|
|
NM_000094.4(COL7A1):c.6217-2del
|
rs2044200662
|
|
NM_000094.4(COL7A1):c.6226G>A (p.Gly2076Ser)
|
|
|
NM_000094.4(COL7A1):c.6341G>C (p.Gly2114Ala)
|
|
|
NM_000094.4(COL7A1):c.6341G>T (p.Gly2114Val)
|
rs2044175577
|
|
NM_000094.4(COL7A1):c.6349-2del
|
rs2107669831
|
|
NM_000094.4(COL7A1):c.6393+1G>C
|
rs2107669589
|
|
NM_000094.4(COL7A1):c.6394-1G>C
|
rs2107668943
|
|
NM_000094.4(COL7A1):c.6456+1G>C
|
rs2107668482
|
|
NM_000094.4(COL7A1):c.6456+2T>C
|
|
|
NM_000094.4(COL7A1):c.6476G>T (p.Gly2159Val)
|
|
|
NM_000094.4(COL7A1):c.6502-2A>G
|
rs773265287
|
|
NM_000094.4(COL7A1):c.6537+1G>A
|
|
|
NM_000094.4(COL7A1):c.6538-2A>C
|
rs2044089924
|
|
NM_000094.4(COL7A1):c.6750+1G>A
|
|
|
NM_000094.4(COL7A1):c.6788G>T (p.Gly2263Val)
|
rs1405839597
|
|
NM_000094.4(COL7A1):c.6815G>C (p.Gly2272Ala)
|
|
|
NM_000094.4(COL7A1):c.6832-1G>T
|
rs2107658703
|
|
NM_000094.4(COL7A1):c.6900+4A>G
|
rs1057518706
|
|
NM_000094.4(COL7A1):c.6901-5_6903del
|
rs2107657268
|
|
NM_000094.4(COL7A1):c.6936+1G>C
|
|
|
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.7070G>A (p.Gly2357Asp)
|
|
|
NM_000094.4(COL7A1):c.7266_7272+6del
|
|
|
NM_000094.4(COL7A1):c.7309G>A (p.Gly2437Arg)
|
|
|
NM_000094.4(COL7A1):c.7344+1G>C
|
rs754469339
|
|
NM_000094.4(COL7A1):c.7344+2T>C
|
|
|
NM_000094.4(COL7A1):c.7345-1G>A
|
rs1229102944
|
|
NM_000094.4(COL7A1):c.7440+1G>A
|
|
|
NM_000094.4(COL7A1):c.7521+1G>A
|
rs1560200657
|
|
NM_000094.4(COL7A1):c.7550G>A (p.Gly2517Asp)
|
|
|
NM_000094.4(COL7A1):c.7557+1G>T
|
rs786204774
|
|
NM_000094.4(COL7A1):c.7598G>A (p.Gly2533Asp)
|
|
|
NM_000094.4(COL7A1):c.7615-1G>A
|
|
|
NM_000094.4(COL7A1):c.7723G>T (p.Gly2575Trp)
|
|
|
NM_000094.4(COL7A1):c.7758+2C>A
|
rs2107639630
|
|
NM_000094.4(COL7A1):c.7759-2A>G
|
rs2043717214
|
|
NM_000094.4(COL7A1):c.7789_7794+2del
|
rs2107638414
|
|
NM_000094.4(COL7A1):c.7865G>C (p.Arg2622Pro)
|
rs368529673
|
|
NM_000094.4(COL7A1):c.7875+1G>C
|
rs2107637140
|
|
NM_000094.4(COL7A1):c.7875+1G>T
|
|
|
NM_000094.4(COL7A1):c.7929+1G>A
|
rs2107636494
|
|
NM_000094.4(COL7A1):c.7966G>C (p.Gly2656Arg)
|
|
|
NM_000094.4(COL7A1):c.7967G>T (p.Gly2656Val)
|
rs557951372
|
|
NM_000094.4(COL7A1):c.7983+1G>C
|
rs2107635603
|
|
NM_000094.4(COL7A1):c.7984-1G>T
|
|
|
NM_000094.4(COL7A1):c.8111G>A (p.Gly2704Glu)
|
rs2107632852
|
|
NM_000094.4(COL7A1):c.8226+1G>T
|
|
|
NM_000094.4(COL7A1):c.8227-1G>C
|
rs2043625281
|
|
NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu)
|
rs2107631988
|
|
NM_000094.4(COL7A1):c.82A>G (p.Arg28Gly)
|
|
|
NM_000094.4(COL7A1):c.8305-2A>C
|
rs2107631431
|
|
NM_000094.4(COL7A1):c.8324G>A (p.Gly2775Asp)
|
|
|
NM_000094.4(COL7A1):c.8333G>A (p.Gly2778Asp)
|
|
|
NM_000094.4(COL7A1):c.8408-7_8419del
|
rs2043573440
|
|
NM_000094.4(COL7A1):c.8441-1G>A
|
|
|
NM_000094.4(COL7A1):c.847-1_847delinsCA
|
rs2107795483
|
|
NM_000094.4(COL7A1):c.86-1G>A
|
rs2107807874
|
|
NM_000094.4(COL7A1):c.8626T>C (p.Cys2876Arg)
|
|
|
NM_000094.4(COL7A1):c.977-2A>T
|
rs2107793510
|
|