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.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.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.-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.5590G>A (p.Ala1864Thr)
|
rs17080261
|
0.00636
|
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
NM_000094.4(COL7A1):c.5154+5T>C
|
rs2854400
|
0.00317
|
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.5819C>T (p.Pro1940Leu)
|
rs149267939
|
0.00098
|
NM_000094.4(COL7A1):c.8530C>T (p.Arg2844Trp)
|
rs138002006
|
0.00089
|
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)
|
rs142059751
|
0.00026
|
NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His)
|
rs150903058
|
0.00021
|
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)
|
rs145068043
|
0.00020
|
NM_000094.4(COL7A1):c.2146A>G (p.Arg716Gly)
|
rs143040168
|
0.00018
|
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)
|
rs2229820
|
0.00016
|
NM_000094.4(COL7A1):c.8359-17T>A
|
rs200207978
|
0.00013
|
NM_000094.4(COL7A1):c.4780C>T (p.Arg1594Trp)
|
rs267599859
|
0.00012
|
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.7037G>A (p.Arg2346His)
|
rs201432371
|
0.00008
|
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.5339G>A (p.Arg1780Gln)
|
rs765367177
|
0.00005
|
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His)
|
rs768326843
|
0.00005
|
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.1202G>T (p.Arg401Leu)
|
rs757929353
|
0.00003
|
NM_000094.4(COL7A1):c.3714C>T (p.Phe1238=)
|
rs1380863838
|
0.00003
|
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.7344+1G>T
|
rs754469339
|
0.00003
|
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter)
|
rs143457874
|
0.00003
|
NM_000094.4(COL7A1):c.8783G>A (p.Arg2928His)
|
rs758740269
|
0.00003
|
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)
|
rs144023803
|
0.00002
|
NM_000094.4(COL7A1):c.2710G>T (p.Gly904Cys)
|
rs781144604
|
0.00002
|
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter)
|
rs761927109
|
0.00002
|
NM_000094.4(COL7A1):c.4228C>T (p.Pro1410Ser)
|
rs778098950
|
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.7012C>T (p.Arg2338Ter)
|
rs745874032
|
0.00002
|
NM_000094.4(COL7A1):c.7462C>T (p.Gln2488Ter)
|
rs1553851245
|
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.2050+16C>T
|
rs749425003
|
0.00001
|
NM_000094.4(COL7A1):c.2587+40G>A
|
rs1158768165
|
0.00001
|
NM_000094.4(COL7A1):c.3140-1G>A
|
rs886041187
|
0.00001
|
NM_000094.4(COL7A1):c.3971del (p.Leu1324fs)
|
rs886044621
|
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.4484G>T (p.Gly1495Val)
|
rs1381334911
|
0.00001
|
NM_000094.4(COL7A1):c.4818+18T>A
|
rs368227259
|
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.5108G>A (p.Gly1703Glu)
|
rs770304825
|
0.00001
|
NM_000094.4(COL7A1):c.5173G>A (p.Gly1725Arg)
|
rs772195825
|
0.00001
|
NM_000094.4(COL7A1):c.5291G>C (p.Gly1764Ala)
|
rs1057520568
|
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.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.6738G>T (p.Leu2246Phe)
|
rs575575729
|
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.7060G>C (p.Gly2354Arg)
|
rs748466015
|
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.7204G>A (p.Val2402Ile)
|
rs761576147
|
0.00001
|
NM_000094.4(COL7A1):c.7219G>A (p.Gly2407Ser)
|
rs774332349
|
0.00001
|
NM_000094.4(COL7A1):c.7234C>T (p.Arg2412Ter)
|
rs1342522878
|
0.00001
|
NM_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter)
|
rs121912852
|
0.00001
|
NM_000094.4(COL7A1):c.7485+5G>A
|
rs988031901
|
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.7865G>A (p.Arg2622Gln)
|
rs368529673
|
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.8138G>A (p.Gly2713Asp)
|
rs369591910
|
0.00001
|
NC_000003.12:g.48595347G>A
|
rs2046013117
|
|
NM_000094.4(COL7A1):c.1452_1453del (p.Tyr485fs)
|
rs752558942
|
|
NM_000094.4(COL7A1):c.151C>G (p.Arg51Gly)
|
|
|
NM_000094.4(COL7A1):c.1637-1G>A
|
rs886058642
|
|
NM_000094.4(COL7A1):c.1781-1G>C
|
rs1553614878
|
|
NM_000094.4(COL7A1):c.1A>G (p.Met1Val)
|
rs1064797078
|
|
NM_000094.4(COL7A1):c.2223_2226dup (p.Leu743fs)
|
rs1057517720
|
|
NM_000094.4(COL7A1):c.2252T>A (p.Val751Glu)
|
rs2107772444
|
|
NM_000094.4(COL7A1):c.2291del (p.Pro764fs)
|
rs775496394
|
|
NM_000094.4(COL7A1):c.2305_2314delinsTT (p.Val769fs)
|
rs2045526309
|
|
NM_000094.4(COL7A1):c.2360C>T (p.Ala787Val)
|
rs2107769020
|
|
NM_000094.4(COL7A1):c.2440+3A>G
|
|
|
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs)
|
rs746056280
|
|
NM_000094.4(COL7A1):c.2587+1G>A
|
rs1294265690
|
|
NM_000094.4(COL7A1):c.2607_2608del (p.Leu870fs)
|
rs1085307849
|
|
NM_000094.4(COL7A1):c.2644T>C (p.Ser882Pro)
|
rs2045438463
|
|
NM_000094.4(COL7A1):c.2699G>A (p.Trp900Ter)
|
rs1349541188
|
|
NM_000094.4(COL7A1):c.2710+2T>C
|
rs1553613528
|
|
NM_000094.4(COL7A1):c.2710+35T>G
|
rs28581474
|
|
NM_000094.4(COL7A1):c.2715_2722dup (p.Gln908fs)
|
rs1553613303
|
|
NM_000094.4(COL7A1):c.2729G>C (p.Arg910Pro)
|
rs373718618
|
|
NM_000094.4(COL7A1):c.276C>A (p.Phe92Leu)
|
rs746563255
|
|
NM_000094.4(COL7A1):c.2791C>T (p.Arg931Cys)
|
rs143979792
|
|
NM_000094.4(COL7A1):c.2803_2804del (p.Ser935fs)
|
rs2045385688
|
|
NM_000094.4(COL7A1):c.2993-5_3007dup
|
rs2107756223
|
|
NM_000094.4(COL7A1):c.3103G>A (p.Val1035Met)
|
|
|
NM_000094.4(COL7A1):c.3140-10del
|
rs1228248856
|
|
NM_000094.4(COL7A1):c.3446A>G (p.Asp1149Gly)
|
rs1057520274
|
|
NM_000094.4(COL7A1):c.3551-3T>G
|
rs773263825
|
|
NM_000094.4(COL7A1):c.3631C>T (p.Gln1211Ter)
|
rs747522386
|
|
NM_000094.4(COL7A1):c.3751_3752insACCA (p.Cys1251fs)
|
rs1064795917
|
|
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs)
|
rs757688782
|
|
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs)
|
rs747912732
|
|
NM_000094.4(COL7A1):c.4011+1G>A
|
rs1553862581
|
|
NM_000094.4(COL7A1):c.4039G>C (p.Gly1347Arg)
|
rs121912833
|
|
NM_000094.4(COL7A1):c.4057G>A (p.Gly1353Arg)
|
|
|
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter)
|
rs1203706188
|
|
NM_000094.4(COL7A1):c.4120-1G>C
|
rs1299648939
|
|
NM_000094.4(COL7A1):c.4120-20T>C
|
rs1057521500
|
|
NM_000094.4(COL7A1):c.4466del (p.Gly1489fs)
|
rs886041885
|
|
NM_000094.4(COL7A1):c.4550_4554del (p.Ala1517fs)
|
rs756897026
|
|
NM_000094.4(COL7A1):c.4568del (p.Pro1523fs)
|
rs778165989
|
|
NM_000094.4(COL7A1):c.4600G>A (p.Gly1534Arg)
|
rs1553860378
|
|
NM_000094.4(COL7A1):c.4668+1G>A
|
rs1317431984
|
|
NM_000094.4(COL7A1):c.4670G>A (p.Gly1557Glu)
|
rs1057520566
|
|
NM_000094.4(COL7A1):c.4744C>T (p.Pro1582Ser)
|
|
|
NM_000094.4(COL7A1):c.4767del (p.Asp1590fs)
|
rs1057517721
|
|
NM_000094.4(COL7A1):c.4919del (p.Gly1640fs)
|
rs1057517722
|
|
NM_000094.4(COL7A1):c.4928G>A (p.Gly1643Asp)
|
rs1057520567
|
|
NM_000094.4(COL7A1):c.5015del (p.Lys1672fs)
|
rs1064793499
|
|
NM_000094.4(COL7A1):c.5027G>A (p.Gly1676Glu)
|
rs886041188
|
|
NM_000094.4(COL7A1):c.5035G>A (p.Gly1679Arg)
|
rs1131691601
|
|
NM_000094.4(COL7A1):c.5098G>C (p.Gly1700Arg)
|
rs773932446
|
|
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.5273G>T (p.Gly1758Val)
|
rs1553857986
|
|
NM_000094.4(COL7A1):c.5299G>A (p.Gly1767Arg)
|
|
|
NM_000094.4(COL7A1):c.5300G>A (p.Gly1767Glu)
|
rs886039720
|
|
NM_000094.4(COL7A1):c.5309G>A (p.Gly1770Asp)
|
|
|
NM_000094.4(COL7A1):c.5318G>T (p.Gly1773Val)
|
rs2107697174
|
|
NM_000094.4(COL7A1):c.5388+5G>A
|
rs1057523751
|
|
NM_000094.4(COL7A1):c.5424+61C>T
|
rs73078310
|
|
NM_000094.4(COL7A1):c.5425-1G>C
|
rs112850769
|
|
NM_000094.4(COL7A1):c.5462G>A (p.Gly1821Asp)
|
rs2107692123
|
|
NM_000094.4(COL7A1):c.5476C>T (p.Pro1826Ser)
|
rs2107692007
|
|
NM_000094.4(COL7A1):c.5532+1G>A
|
rs767182886
|
|
NM_000094.4(COL7A1):c.5532+4A>G
|
rs2107690960
|
|
NM_000094.4(COL7A1):c.5585C>G (p.Ser1862Ter)
|
rs1013627013
|
|
NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg)
|
rs1057517724
|
|
NM_000094.4(COL7A1):c.5609G>A (p.Arg1870His)
|
|
|
NM_000094.4(COL7A1):c.5659_5666dup (p.Pro1892fs)
|
rs1553855974
|
|
NM_000094.4(COL7A1):c.5701-1G>T
|
rs1553855868
|
|
NM_000094.4(COL7A1):c.5720_5721delinsAT (p.Gly1907Asp)
|
rs1057517725
|
|
NM_000094.4(COL7A1):c.5772+1G>A
|
rs2107680218
|
|
NM_000094.4(COL7A1):c.58C>T (p.Arg20Ter)
|
rs886039562
|
|
NM_000094.4(COL7A1):c.5932C>T (p.Arg1978Ter)
|
rs1368134215
|
|
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.6022C>T (p.Arg2008Cys)
|
rs1055680335
|
|
NM_000094.4(COL7A1):c.6023G>A (p.Arg2008His)
|
rs1002845719
|
|
NM_000094.4(COL7A1):c.6035G>A (p.Gly2012Asp)
|
rs2107674937
|
|
NM_000094.4(COL7A1):c.6041del (p.Gln2014fs)
|
rs1575439903
|
|
NM_000094.4(COL7A1):c.6067_6075delinsAATGGGGT (p.Glu2023fs)
|
|
|
NM_000094.4(COL7A1):c.6074del (p.Gly2025fs)
|
rs886041417
|
|
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.6101G>C (p.Gly2034Ala)
|
rs1057520530
|
|
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.6127G>A (p.Gly2043Arg)
|
rs121912836
|
|
NM_000094.4(COL7A1):c.6127G>T (p.Gly2043Trp)
|
rs121912836
|
|
NM_000094.4(COL7A1):c.6164G>A (p.Gly2055Glu)
|
rs1553854678
|
|
NM_000094.4(COL7A1):c.6172G>A (p.Gly2058Arg)
|
rs2107673815
|
|
NM_000094.4(COL7A1):c.6176A>G (p.Glu2059Gly)
|
rs1057517726
|
|
NM_000094.4(COL7A1):c.6180+23A>T
|
rs1553854648
|
|
NM_000094.4(COL7A1):c.6181-4del
|
rs2044209233
|
|
NM_000094.4(COL7A1):c.6189_6206del (p.Lys2066_Glu2071del)
|
rs2107672756
|
|
NM_000094.4(COL7A1):c.6199G>A (p.Gly2067Arg)
|
|
|
NM_000094.4(COL7A1):c.6215A>G (p.Gln2072Arg)
|
|
|
NM_000094.4(COL7A1):c.6216+2T>G
|
|
|
NM_000094.4(COL7A1):c.6216+37G>A
|
rs2107672377
|
|
NM_000094.4(COL7A1):c.6217G>T (p.Gly2073Cys)
|
rs2107672112
|
|
NM_000094.4(COL7A1):c.6235G>A (p.Gly2079Arg)
|
rs2107671960
|
|
NM_000094.4(COL7A1):c.6351delinsAT (p.Gly2117_Glu2118insTer)
|
rs1575437481
|
|
NM_000094.4(COL7A1):c.6394G>C (p.Gly2132Arg)
|
rs1131691559
|
|
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)
|
rs768128088
|
|
NM_000094.4(COL7A1):c.6602G>A (p.Gly2201Glu)
|
rs2107663241
|
|
NM_000094.4(COL7A1):c.6647G>A (p.Gly2216Glu)
|
rs781720055
|
|
NM_000094.4(COL7A1):c.6656dup (p.Thr2220fs)
|
rs757406252
|
|
NM_000094.4(COL7A1):c.6662G>A (p.Gly2221Glu)
|
|
|
NM_000094.4(COL7A1):c.6696dup (p.Gly2233fs)
|
rs749256529
|
|
NM_000094.4(COL7A1):c.6724G>A (p.Gly2242Arg)
|
rs121912837
|
|
NM_000094.4(COL7A1):c.6725G>A (p.Gly2242Glu)
|
|
|
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.6770G>C (p.Gly2257Ala)
|
rs1057517969
|
|
NM_000094.4(COL7A1):c.6778G>C (p.Gly2260Arg)
|
rs2107659720
|
|
NM_000094.4(COL7A1):c.6832-3T>C
|
rs1553853065
|
|
NM_000094.4(COL7A1):c.6842G>C (p.Gly2281Ala)
|
rs1064793915
|
|
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.6861A>G (p.Gly2287=)
|
rs1315644130
|
|
NM_000094.4(COL7A1):c.6864_6879del (p.Lys2289fs)
|
rs1553853022
|
|
NM_000094.4(COL7A1):c.6900+1G>A
|
rs1064793908
|
|
NM_000094.4(COL7A1):c.6900+2_6900+5del
|
|
|
NM_000094.4(COL7A1):c.7021_7023del (p.Lys2341del)
|
|
|
NM_000094.4(COL7A1):c.7097G>T (p.Gly2366Val)
|
|
|
NM_000094.4(COL7A1):c.7106G>A (p.Gly2369Asp)
|
rs2107650135
|
|
NM_000094.4(COL7A1):c.7154del (p.Pro2385fs)
|
rs909040709
|
|
NM_000094.4(COL7A1):c.7168G>T (p.Asp2390Tyr)
|
|
|
NM_000094.4(COL7A1):c.7247G>T (p.Gly2416Val)
|
rs769933448
|
|
NM_000094.4(COL7A1):c.7349del (p.Pro2450fs)
|
rs1575425011
|
|
NM_000094.4(COL7A1):c.7442G>A (p.Gly2481Asp)
|
rs886039328
|
|
NM_000094.4(COL7A1):c.751C>T (p.Gln251Ter)
|
rs1211890738
|
|
NM_000094.4(COL7A1):c.7688G>A (p.Gly2563Asp)
|
rs1064793904
|
|
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs)
|
rs759990189
|
|
NM_000094.4(COL7A1):c.7984-7del
|
rs66737445
|
|
NM_000094.4(COL7A1):c.7987G>T (p.Glu2663Ter)
|
|
|
NM_000094.4(COL7A1):c.8012G>A (p.Gly2671Glu)
|
rs886039329
|
|
NM_000094.4(COL7A1):c.8102G>T (p.Gly2701Val)
|
rs1057520693
|
|
NM_000094.4(COL7A1):c.8110G>A (p.Gly2704Arg)
|
|
|
NM_000094.4(COL7A1):c.8111G>A (p.Gly2704Glu)
|
rs2107632852
|
|
NM_000094.4(COL7A1):c.8165G>A (p.Gly2722Asp)
|
rs759949767
|
|
NM_000094.4(COL7A1):c.8233C>T (p.Arg2745Ter)
|
rs768202310
|
|
NM_000094.4(COL7A1):c.8266C>T (p.Pro2756Ser)
|
rs755546809
|
|
NM_000094.4(COL7A1):c.8272del (p.Val2758fs)
|
rs1553849789
|
|
NM_000094.4(COL7A1):c.8329C>T (p.Arg2777Ter)
|
rs886039330
|
|
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.846G>A (p.Glu282=)
|
rs770216458
|
|
NM_000094.4(COL7A1):c.8528-45G>A
|
|
|
NM_000094.4(COL7A1):c.8620+18_8620+19insCGC
|
rs138595277
|
|
NM_000094.4(COL7A1):c.887del (p.Gly296fs)
|
rs1131691385
|
|
NM_000094.4(COL7A1):c.90del (p.Cys31fs)
|
rs747209331
|
|