ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 556
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857 0.00150
NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His) rs150903058 0.00021
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
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.7120G>A (p.Gly2374Arg) rs181430415 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.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.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.7012C>T (p.Arg2338Ter) rs745874032 0.00002
NM_000094.4(COL7A1):c.7068+5G>A rs779875751 0.00002
NM_000094.4(COL7A1):c.7462C>T (p.Gln2488Ter) rs1553851245 0.00002
NM_000094.4(COL7A1):c.7738C>T (p.Arg2580Cys) rs762084565 0.00002
NM_000094.4(COL7A1):c.7882C>T (p.Arg2628Trp) rs376588113 0.00002
NM_000094.4(COL7A1):c.8038G>A (p.Gly2680Ser) rs370744140 0.00002
NM_000094.4(COL7A1):c.8065G>A (p.Gly2689Arg) rs748940147 0.00002
NM_000094.4(COL7A1):c.8323G>A (p.Gly2775Ser) rs1333259313 0.00002
NM_000094.4(COL7A1):c.1080G>A (p.Trp360Ter) rs375604839 0.00001
NM_000094.4(COL7A1):c.1304G>A (p.Trp435Ter) rs375539799 0.00001
NM_000094.4(COL7A1):c.1564C>T (p.Gln522Ter) rs770684431 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.2587+40G>A rs1158768165 0.00001
NM_000094.4(COL7A1):c.3140-1G>A rs886041187 0.00001
NM_000094.4(COL7A1):c.377del (p.Val126fs) rs1221546428 0.00001
NM_000094.4(COL7A1):c.3850G>A (p.Gly1284Ser) rs764353299 0.00001
NM_000094.4(COL7A1):c.3971del (p.Leu1324fs) rs886044621 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.4484G>T (p.Gly1495Val) rs1381334911 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.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.5188C>T (p.Arg1730Ter) rs746053763 0.00001
NM_000094.4(COL7A1):c.520G>A (p.Gly174Arg) rs1245411910 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.565C>T (p.Gln189Ter) rs1486141784 0.00001
NM_000094.4(COL7A1):c.5764_5767del (p.Gly1922fs) rs747769277 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.6528del (p.Gly2177fs) rs1477977704 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.6994C>T (p.Arg2332Ter) rs765027608 0.00001
NM_000094.4(COL7A1):c.7051G>A (p.Gly2351Arg) rs1800013 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.7219G>A (p.Gly2407Ser) rs774332349 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.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.8109+1G>A rs1050797523 0.00001
NM_000094.4(COL7A1):c.8138G>A (p.Gly2713Asp) rs369591910 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.8654G>A (p.Cys2885Tyr) rs749519562 0.00001
NC_000003.11:g.(?_48601829)_(48632780_?)del
NC_000003.11:g.(?_48602206)_(48617500_?)del
NC_000003.11:g.(?_48605912)_(48607213_?)del
NC_000003.11:g.(?_48605912)_(48607368_?)del
NC_000003.11:g.(?_48609446)_(48618853_?)del
NC_000003.11:g.(?_48615911)_(48620525_?)del
NC_000003.11:g.(?_48627960)_(48631079_?)del
NC_000003.12:g.48566738del
NC_000003.12:g.48568171dup
NC_000003.12:g.48569447del
NC_000003.12:g.48579405del rs2107698224
NC_000003.12:g.48582359dup
NC_000003.12:g.48584557del
NC_000003.12:g.48587553CT[1]
NC_000003.12:g.48595347G>A rs2046013117
NM_000094.4(COL7A1):c.1045_1046del (p.Ser349fs) rs2107793116
NM_000094.4(COL7A1):c.105C>A (p.Tyr35Ter) rs751325519
NM_000094.4(COL7A1):c.1079G>A (p.Trp360Ter) rs2045767651
NM_000094.4(COL7A1):c.1112_1118dup (p.Pro375fs)
NM_000094.4(COL7A1):c.115_121dup (p.Phe41fs)
NM_000094.4(COL7A1):c.1172_1173del (p.Asp390_Tyr391insTer)
NM_000094.4(COL7A1):c.1241-5G>A
NM_000094.4(COL7A1):c.1363G>T (p.Glu455Ter)
NM_000094.4(COL7A1):c.139del (p.Ser47fs)
NM_000094.4(COL7A1):c.1423C>T (p.Gln475Ter) rs1482450152
NM_000094.4(COL7A1):c.143C>T (p.Ser48Phe)
NM_000094.4(COL7A1):c.1452_1453del (p.Tyr485fs) rs752558942
NM_000094.4(COL7A1):c.1474_1505del (p.Glu492fs) rs2107788141
NM_000094.4(COL7A1):c.1507+1G>A
NM_000094.4(COL7A1):c.1513dup (p.Glu505fs)
NM_000094.4(COL7A1):c.1589del (p.Pro530fs) rs2045697078
NM_000094.4(COL7A1):c.1606C>T (p.Gln536Ter)
NM_000094.4(COL7A1):c.1620del (p.Ile540fs)
NM_000094.4(COL7A1):c.1637-1G>A rs886058642
NM_000094.4(COL7A1):c.1672_1675del (p.Thr558fs)
NM_000094.4(COL7A1):c.1735dup (p.Val579fs)
NM_000094.4(COL7A1):c.1744del (p.Arg582fs)
NM_000094.4(COL7A1):c.1781-1G>C rs1553614878
NM_000094.4(COL7A1):c.184G>T (p.Glu62Ter)
NM_000094.4(COL7A1):c.189del (p.Leu64fs) rs1381975764
NM_000094.4(COL7A1):c.1921C>T (p.Gln641Ter)
NM_000094.4(COL7A1):c.1953_1954dup (p.Ile652fs) rs2045600633
NM_000094.4(COL7A1):c.1984C>T (p.Gln662Ter)
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.2091del (p.Ser698fs)
NM_000094.4(COL7A1):c.2117G>A (p.Trp706Ter)
NM_000094.4(COL7A1):c.2126T>C (p.Val709Ala)
NM_000094.4(COL7A1):c.2162C>G (p.Ser721Ter)
NM_000094.4(COL7A1):c.2200G>T (p.Glu734Ter)
NM_000094.4(COL7A1):c.2212_2215dup (p.Glu739delinsGlyTer)
NM_000094.4(COL7A1):c.2223_2226dup (p.Leu743fs) rs1057517720
NM_000094.4(COL7A1):c.2291del (p.Pro764fs) rs775496394
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.2347C>T (p.Gln783Ter)
NM_000094.4(COL7A1):c.2388G>A (p.Trp796Ter)
NM_000094.4(COL7A1):c.2415C>G (p.Tyr805Ter)
NM_000094.4(COL7A1):c.2440+1G>A
NM_000094.4(COL7A1):c.2463dup (p.Leu822fs) rs2045478123
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.4(COL7A1):c.2474del (p.Asn825fs)
NM_000094.4(COL7A1):c.247C>T (p.Gln83Ter)
NM_000094.4(COL7A1):c.2483_2484del (p.Ser828fs)
NM_000094.4(COL7A1):c.2527C>T (p.Arg843Ter) rs1278021176
NM_000094.4(COL7A1):c.2532_2536dup (p.Ala846fs)
NM_000094.4(COL7A1):c.2587+1G>A rs1294265690
NM_000094.4(COL7A1):c.2587+1G>C rs1294265690
NM_000094.4(COL7A1):c.2607_2608del (p.Leu870fs) rs1085307849
NM_000094.4(COL7A1):c.2636_2646del (p.Gly879fs) rs2107763964
NM_000094.4(COL7A1):c.2638dup (p.Glu880fs)
NM_000094.4(COL7A1):c.266+2T>C rs561997536
NM_000094.4(COL7A1):c.267-1G>A
NM_000094.4(COL7A1):c.2699G>A (p.Trp900Ter) rs1349541188
NM_000094.4(COL7A1):c.2708del (p.Glu903fs) rs2107763474
NM_000094.4(COL7A1):c.2710+2T>C rs1553613528
NM_000094.4(COL7A1):c.2715_2722dup (p.Gln908fs) rs1553613303
NM_000094.4(COL7A1):c.2722C>T (p.Gln908Ter) rs2045393987
NM_000094.4(COL7A1):c.2728del (p.Arg910fs)
NM_000094.4(COL7A1):c.2743G>T (p.Glu915Ter) rs747337505
NM_000094.4(COL7A1):c.2745del (p.Glu915fs)
NM_000094.4(COL7A1):c.2778_2779del (p.Ala927fs)
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.2803_2804del (p.Ser935fs) rs2045385688
NM_000094.4(COL7A1):c.2927G>A (p.Trp976Ter) rs756173722
NM_000094.4(COL7A1):c.2966G>A (p.Trp989Ter) rs2107757088
NM_000094.4(COL7A1):c.2992+2T>G rs1575476280
NM_000094.4(COL7A1):c.2993-5_3007dup rs2107756223
NM_000094.4(COL7A1):c.2T>G (p.Met1Arg)
NM_000094.4(COL7A1):c.3010C>T (p.Gln1004Ter)
NM_000094.4(COL7A1):c.3088_3092delinsTCAGGA (p.Pro1030fs)
NM_000094.4(COL7A1):c.3130C>T (p.Gln1044Ter) rs1205027821
NM_000094.4(COL7A1):c.313dup (p.Arg105fs) rs2045868741
NM_000094.4(COL7A1):c.3144C>A (p.Cys1048Ter)
NM_000094.4(COL7A1):c.3148del (p.Arg1050fs) rs2045324382
NM_000094.4(COL7A1):c.3170_3173del (p.Phe1057fs) rs1435934984
NM_000094.4(COL7A1):c.3187C>T (p.Gln1063Ter)
NM_000094.4(COL7A1):c.3212del (p.Ala1071fs)
NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs) rs1235811820
NM_000094.4(COL7A1):c.3281dup (p.Leu1095fs)
NM_000094.4(COL7A1):c.329_332dup (p.Ser111_Tyr112insTer) rs1256976418
NM_000094.4(COL7A1):c.32del (p.Cys11fs) rs2107812280
NM_000094.4(COL7A1):c.3310delinsAA (p.Pro1104fs) rs2045286625
NM_000094.4(COL7A1):c.3378C>A (p.Tyr1126Ter) rs2107750137
NM_000094.4(COL7A1):c.3432C>A (p.Tyr1144Ter)
NM_000094.4(COL7A1):c.3437T>A (p.Leu1146Ter) rs2107749132
NM_000094.4(COL7A1):c.344dup (p.Asn116fs)
NM_000094.4(COL7A1):c.3473del (p.Pro1158fs) rs764605074
NM_000094.4(COL7A1):c.3515_3524dup (p.Ser1175fs) rs1575472776
NM_000094.4(COL7A1):c.3550+1del rs2107748182
NM_000094.4(COL7A1):c.3551-3T>G rs773263825
NM_000094.4(COL7A1):c.3563_3581dup (p.Ala1195fs)
NM_000094.4(COL7A1):c.356_357del (p.Thr119fs) rs1261268687
NM_000094.4(COL7A1):c.3611dup (p.Pro1205fs)
NM_000094.4(COL7A1):c.361del (p.Ala121fs)
NM_000094.4(COL7A1):c.3625_3635del (p.Ser1209fs)
NM_000094.4(COL7A1):c.3631C>T (p.Gln1211Ter) rs747522386
NM_000094.4(COL7A1):c.3636del (p.Phe1213fs) rs2107746826
NM_000094.4(COL7A1):c.3702T>A (p.Cys1234Ter) rs2045235863
NM_000094.4(COL7A1):c.3703C>T (p.Gln1235Ter)
NM_000094.4(COL7A1):c.3721C>T (p.Gln1241Ter)
NM_000094.4(COL7A1):c.3727del (p.Arg1243fs)
NM_000094.4(COL7A1):c.3751_3752insACCA (p.Cys1251fs) rs1064795917
NM_000094.4(COL7A1):c.3830del (p.Pro1277fs) rs774436727
NM_000094.4(COL7A1):c.3832_3833del rs2107742434
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.4(COL7A1):c.3856C>T (p.Gln1286Ter)
NM_000094.4(COL7A1):c.3889G>T (p.Glu1297Ter)
NM_000094.4(COL7A1):c.3932del (p.Gly1311fs)
NM_000094.4(COL7A1):c.3940G>A (p.Gly1314Arg)
NM_000094.4(COL7A1):c.3940_3963del (p.Gly1314_Ala1321del)
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.4(COL7A1):c.3948dup (p.Gly1317fs)
NM_000094.4(COL7A1):c.3956del (p.Pro1319fs)
NM_000094.4(COL7A1):c.3G>T (p.Met1Ile)
NM_000094.4(COL7A1):c.4011+1G>A rs1553862581
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg) rs1156352791
NM_000094.4(COL7A1):c.402dup (p.Leu135fs) rs2107801259
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.4095del (p.Arg1366fs)
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter) rs1203706188
NM_000094.4(COL7A1):c.4119+1G>A
NM_000094.4(COL7A1):c.4120-1G>C rs1299648939
NM_000094.4(COL7A1):c.4127dup (p.Gly1377fs)
NM_000094.4(COL7A1):c.4128del (p.Gly1377fs) rs1575466699
NM_000094.4(COL7A1):c.4172del (p.Pro1391fs) rs2107733058
NM_000094.4(COL7A1):c.4184del (p.Gly1395fs) rs2107732969
NM_000094.4(COL7A1):c.4233del (p.Gly1412fs) rs1560241522
NM_000094.4(COL7A1):c.4303C>T (p.Gln1435Ter)
NM_000094.4(COL7A1):c.4322del (p.Pro1441fs) rs753185460
NM_000094.4(COL7A1):c.4336del (p.Glu1446fs)
NM_000094.4(COL7A1):c.4342-1G>T rs2044955528
NM_000094.4(COL7A1):c.4351del (p.Glu1451fs)
NM_000094.4(COL7A1):c.4404_4422del (p.Pro1469fs) rs2107726116
NM_000094.4(COL7A1):c.4406dup (p.Arg1470fs)
NM_000094.4(COL7A1):c.4466del (p.Gly1489fs) rs886041885
NM_000094.4(COL7A1):c.4478del (p.Glu1493fs) rs2044901183
NM_000094.4(COL7A1):c.4482+1G>A
NM_000094.4(COL7A1):c.448G>A (p.Gly150Arg) rs757715378
NM_000094.4(COL7A1):c.4506_4516del (p.Ala1503fs)
NM_000094.4(COL7A1):c.4518+1G>A rs2107722847
NM_000094.4(COL7A1):c.4531_4564-42del rs2044843806
NM_000094.4(COL7A1):c.4550_4554del (p.Ala1517fs) rs756897026
NM_000094.4(COL7A1):c.4568del (p.Pro1523fs) rs778165989
NM_000094.4(COL7A1):c.4588C>T (p.Gln1530Ter) rs2107718927
NM_000094.4(COL7A1):c.4590del (p.Gly1531fs)
NM_000094.4(COL7A1):c.4603G>T (p.Glu1535Ter) rs1487476449
NM_000094.4(COL7A1):c.4621del (p.Asp1541fs) rs1272238711
NM_000094.4(COL7A1):c.4665_4667delinsCGG (p.Glu1555_Lys1556delinsAspGly)
NM_000094.4(COL7A1):c.4667del (p.Lys1556fs)
NM_000094.4(COL7A1):c.4668+1G>A rs1317431984
NM_000094.4(COL7A1):c.4670G>A (p.Gly1557Glu) rs1057520566
NM_000094.4(COL7A1):c.4696G>A (p.Gly1566Arg) rs2107714139
NM_000094.4(COL7A1):c.4738_4740delinsA (p.Val1580fs)
NM_000094.4(COL7A1):c.4766dup (p.Asp1590fs) rs1369428850
NM_000094.4(COL7A1):c.4767del (p.Asp1590fs) rs1057517721
NM_000094.4(COL7A1):c.476del (p.Ala159fs)
NM_000094.4(COL7A1):c.4783-2A>T rs2107712587
NM_000094.4(COL7A1):c.4810G>C (p.Gly1604Arg) rs1560234201
NM_000094.4(COL7A1):c.4817dup (p.Gly1607fs) rs2044751948
NM_000094.4(COL7A1):c.4827_4828del (p.Gly1610fs)
NM_000094.4(COL7A1):c.4919del (p.Gly1640fs) rs1057517722
NM_000094.4(COL7A1):c.4928G>A (p.Gly1643Asp) rs1057520567
NM_000094.4(COL7A1):c.4943del (p.Pro1648fs)
NM_000094.4(COL7A1):c.495del (p.Gln166fs)
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=) rs1560232515
NM_000094.4(COL7A1):c.496C>T (p.Gln166Ter)
NM_000094.4(COL7A1):c.4980+1G>C rs730880285
NM_000094.4(COL7A1):c.4980+1G>T rs730880285
NM_000094.4(COL7A1):c.4991G>C (p.Gly1664Ala)
NM_000094.4(COL7A1):c.5015del (p.Lys1672fs) rs1064793499
NM_000094.4(COL7A1):c.5027G>A (p.Gly1676Glu) rs886041188
NM_000094.4(COL7A1):c.502del (p.Val168fs)
NM_000094.4(COL7A1):c.5035G>A (p.Gly1679Arg) rs1131691601
NM_000094.4(COL7A1):c.5076_5086del (p.Lys1693fs)
NM_000094.4(COL7A1):c.5097+1G>C
NM_000094.4(COL7A1):c.5098G>C (p.Gly1700Arg) rs773932446
NM_000094.4(COL7A1):c.5107G>T (p.Gly1703Ter) rs1202107642
NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs) rs770456964
NM_000094.4(COL7A1):c.5214_5217del (p.Pro1739fs)
NM_000094.4(COL7A1):c.522_528del (p.Ile175fs)
NM_000094.4(COL7A1):c.5230del (p.Glu1744fs) rs2107699672
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.5269C>T (p.Gln1757Ter)
NM_000094.4(COL7A1):c.5273G>T (p.Gly1758Val) rs1553857986
NM_000094.4(COL7A1):c.5281G>A (p.Gly1761Ser)
NM_000094.4(COL7A1):c.5282G>A (p.Gly1761Asp)
NM_000094.4(COL7A1):c.5287C>T (p.Arg1763Ter) rs1360704374
NM_000094.4(COL7A1):c.5291G>A (p.Gly1764Asp)
NM_000094.4(COL7A1):c.5299G>A (p.Gly1767Arg)
NM_000094.4(COL7A1):c.5300G>A (p.Gly1767Glu) rs886039720
NM_000094.4(COL7A1):c.5304_5307+1del rs781583687
NM_000094.4(COL7A1):c.5308G>A (p.Gly1770Ser)
NM_000094.4(COL7A1):c.5309G>A (p.Gly1770Asp)
NM_000094.4(COL7A1):c.5309G>T (p.Gly1770Val)
NM_000094.4(COL7A1):c.5318G>T (p.Gly1773Val) rs2107697174
NM_000094.4(COL7A1):c.5344G>T (p.Gly1782Ter) rs374718902
NM_000094.4(COL7A1):c.5388+1G>A
NM_000094.4(COL7A1):c.5388+5G>A rs1057523751
NM_000094.4(COL7A1):c.5425-1G>C rs112850769
NM_000094.4(COL7A1):c.5462G>A (p.Gly1821Asp) rs2107692123
NM_000094.4(COL7A1):c.5531dup (p.Asn1844fs) rs2107691045
NM_000094.4(COL7A1):c.5532+1G>A rs767182886
NM_000094.4(COL7A1):c.5576_5577del (p.Lys1859fs) rs2044349915
NM_000094.4(COL7A1):c.5585C>A (p.Ser1862Ter)
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.5656C>T (p.Gln1886Ter) rs2044329211
NM_000094.4(COL7A1):c.5656del (p.Gln1886fs)
NM_000094.4(COL7A1):c.5659_5666dup (p.Pro1892fs) rs1553855974
NM_000094.4(COL7A1):c.5661_5664dup (p.Pro1889fs)
NM_000094.4(COL7A1):c.5701-1G>T rs1553855868
NM_000094.4(COL7A1):c.5720_5721delinsAT (p.Gly1907Asp) rs1057517725
NM_000094.4(COL7A1):c.5755G>T (p.Gly1919Ter) rs2044302053
NM_000094.4(COL7A1):c.5767del (p.Glu1923fs) rs1575442816
NM_000094.4(COL7A1):c.5772+1G>A rs2107680218
NM_000094.4(COL7A1):c.5774G>T (p.Gly1925Val)
NM_000094.4(COL7A1):c.5783del (p.Gly1928fs)
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
NM_000094.4(COL7A1):c.5810del (p.Gly1937fs)
NM_000094.4(COL7A1):c.5819del (p.Pro1940fs) rs1575442301
NM_000094.4(COL7A1):c.5870G>A (p.Arg1957Gln)
NM_000094.4(COL7A1):c.58C>T (p.Arg20Ter) rs886039562
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.5947del (p.Asp1983fs)
NM_000094.4(COL7A1):c.5969del (p.Pro1990fs)
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg) rs121912832
NM_000094.4(COL7A1):c.6007G>C (p.Gly2003Arg)
NM_000094.4(COL7A1):c.6008G>A (p.Gly2003Glu) rs2107675162
NM_000094.4(COL7A1):c.6014_6021delinsGGG (p.Lys2005fs) rs2044235455
NM_000094.4(COL7A1):c.6017G>C (p.Gly2006Ala)
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.6023G>A (p.Arg2008His) rs1002845719
NM_000094.4(COL7A1):c.6025G>A (p.Gly2009Arg) rs2107675021
NM_000094.4(COL7A1):c.6026G>A (p.Gly2009Glu) rs1342925232
NM_000094.4(COL7A1):c.6026G>C (p.Gly2009Ala)
NM_000094.4(COL7A1):c.6035G>A (p.Gly2012Asp) rs2107674937
NM_000094.4(COL7A1):c.6041del (p.Gln2014fs) rs1575439903
NM_000094.4(COL7A1):c.6061dup (p.Leu2021fs) rs2107674698
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.6119G>A (p.Gly2040Asp) rs2044225406
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) rs121912836
NM_000094.4(COL7A1):c.6127G>C (p.Gly2043Arg) rs121912836
NM_000094.4(COL7A1):c.6127G>T (p.Gly2043Trp) rs121912836
NM_000094.4(COL7A1):c.6128G>A (p.Gly2043Glu) rs2107674192
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.6172G>A (p.Gly2058Arg) rs2107673815
NM_000094.4(COL7A1):c.6176A>G (p.Glu2059Gly) rs1057517726
NM_000094.4(COL7A1):c.6182G>A (p.Gly2061Glu)
NM_000094.4(COL7A1):c.6182G>T (p.Gly2061Val) rs2044208810
NM_000094.4(COL7A1):c.6189_6206del (p.Lys2066_Glu2071del) rs2107672756
NM_000094.4(COL7A1):c.6190G>T (p.Gly2064Ter)
NM_000094.4(COL7A1):c.6191G>A (p.Gly2064Glu) rs2107672816
NM_000094.4(COL7A1):c.6193_6196del (p.Glu2065fs) rs2107672777
NM_000094.4(COL7A1):c.6199G>A (p.Gly2067Arg)
NM_000094.4(COL7A1):c.6209G>C (p.Gly2070Ala)
NM_000094.4(COL7A1):c.6215A>G (p.Gln2072Arg)
NM_000094.4(COL7A1):c.6216+1G>A rs2107672698
NM_000094.4(COL7A1):c.6216+2T>G
NM_000094.4(COL7A1):c.6216+5G>T rs2044206978
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.6236G>A (p.Gly2079Glu)
NM_000094.4(COL7A1):c.6245del (p.Gly2082fs) rs2044198408
NM_000094.4(COL7A1):c.6269del (p.Pro2090fs) rs2044195570
NM_000094.4(COL7A1):c.6270del (p.Gly2091fs)
NM_000094.4(COL7A1):c.6279+1G>T
NM_000094.4(COL7A1):c.6311_6312del (p.Ser2104fs)
NM_000094.4(COL7A1):c.6319C>T (p.Gln2107Ter) rs2107670284
NM_000094.4(COL7A1):c.6329dup (p.Gly2111fs)
NM_000094.4(COL7A1):c.6334_6348+29delinsACATG
NM_000094.4(COL7A1):c.6341_6343delinsTT (p.Gly2114fs)
NM_000094.4(COL7A1):c.6343del (p.Ala2115fs) rs2107670113
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.639del (p.Arg214fs) rs2045831941
NM_000094.4(COL7A1):c.6449del (p.Gly2150fs)
NM_000094.4(COL7A1):c.6508C>T (p.Gln2170Ter) rs1461012195
NM_000094.4(COL7A1):c.6517A>T (p.Arg2173Ter) rs1437740725
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.6602G>A (p.Gly2201Glu) rs2107663241
NM_000094.4(COL7A1):c.6607del (p.Ser2203fs)
NM_000094.4(COL7A1):c.6619-2A>T
NM_000094.4(COL7A1):c.6637G>A (p.Gly2213Arg)
NM_000094.4(COL7A1):c.6647G>A (p.Gly2216Glu) rs781720055
NM_000094.4(COL7A1):c.6651+1G>A
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.6697G>A (p.Gly2233Ser) rs2107661505
NM_000094.4(COL7A1):c.6716G>T (p.Gly2239Val)
NM_000094.4(COL7A1):c.6718delinsGA (p.Pro2240fs)
NM_000094.4(COL7A1):c.6721C>T (p.Gln2241Ter)
NM_000094.4(COL7A1):c.6724G>A (p.Gly2242Arg) rs121912837
NM_000094.4(COL7A1):c.6725G>A (p.Gly2242Glu)
NM_000094.4(COL7A1):c.6727del (p.Ser2243fs)
NM_000094.4(COL7A1):c.6745C>T (p.Gln2249Ter) rs769294243
NM_000094.4(COL7A1):c.6751-1G>C
NM_000094.4(COL7A1):c.6751-1G>T
NM_000094.4(COL7A1):c.6751-2_6751-1del rs760460054
NM_000094.4(COL7A1):c.6760G>A (p.Gly2254Arg) rs2107659888
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.676C>T (p.Arg226Ter) rs753819164
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.6842G>C (p.Gly2281Ala) rs1064793915
NM_000094.4(COL7A1):c.6846G>C (p.Leu2282=) rs1355509467
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) rs121912839
NM_000094.4(COL7A1):c.6864_6879del (p.Lys2289fs) rs1553853022
NM_000094.4(COL7A1):c.6893del (p.Pro2298fs)
NM_000094.4(COL7A1):c.6899_6900+6del
NM_000094.4(COL7A1):c.6900+1G>A rs1064793908
NM_000094.4(COL7A1):c.6900+1G>C
NM_000094.4(COL7A1):c.6900+2_6900+5del
NM_000094.4(COL7A1):c.6928_6929del (p.Gly2310fs)
NM_000094.4(COL7A1):c.6989G>A (p.Gly2330Asp)
NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=) rs1362309822
NM_000094.4(COL7A1):c.7023+1G>A rs2043966286
NM_000094.4(COL7A1):c.7023G>A (p.Lys2341=)
NM_000094.4(COL7A1):c.7079G>C (p.Gly2360Ala)
NM_000094.4(COL7A1):c.7097G>C (p.Gly2366Ala)
NM_000094.4(COL7A1):c.7097G>T (p.Gly2366Val)
NM_000094.4(COL7A1):c.7104+3A>T rs749077987
NM_000094.4(COL7A1):c.7104+5G>A rs2043898537
NM_000094.4(COL7A1):c.7106G>A (p.Gly2369Asp) rs2107650135
NM_000094.4(COL7A1):c.7114G>T (p.Gly2372Ter)
NM_000094.4(COL7A1):c.7115G>T (p.Gly2372Val)
NM_000094.4(COL7A1):c.7127del (p.Pro2376fs)
NM_000094.4(COL7A1):c.7129G>A (p.Gly2377Ser)
NM_000094.4(COL7A1):c.7154del (p.Pro2385fs) rs909040709
NM_000094.4(COL7A1):c.7164+1G>A
NM_000094.4(COL7A1):c.7244dup (p.Met2415fs) rs1336686272
NM_000094.4(COL7A1):c.7247G>T (p.Gly2416Val) rs769933448
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.7289del (p.Pro2430fs) rs1330515772
NM_000094.4(COL7A1):c.7289dup (p.Gly2431fs) rs1330515772
NM_000094.4(COL7A1):c.7304dup (p.Gly2437fs)
NM_000094.4(COL7A1):c.7349del (p.Pro2450fs) rs1575425011
NM_000094.4(COL7A1):c.7417G>T (p.Glu2473Ter)
NM_000094.4(COL7A1):c.7432G>C (p.Gly2478Arg)
NM_000094.4(COL7A1):c.7442G>A (p.Gly2481Asp) rs886039328
NM_000094.4(COL7A1):c.7465G>T (p.Glu2489Ter)
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter) rs765529435
NM_000094.4(COL7A1):c.7493del (p.Pro2498fs) rs1165239659
NM_000094.4(COL7A1):c.751C>T (p.Gln251Ter) rs1211890738
NM_000094.4(COL7A1):c.7520del (p.Lys2507fs)
NM_000094.4(COL7A1):c.7530dup (p.Gly2511fs)
NM_000094.4(COL7A1):c.7535_7542del (p.Ser2512fs)
NM_000094.4(COL7A1):c.7547_7551dup (p.Asp2518fs)
NM_000094.4(COL7A1):c.7547dup (p.Gly2517_Asp2518insTer) rs2107642953
NM_000094.4(COL7A1):c.7621C>T (p.Arg2541Ter) rs2107641787
NM_000094.4(COL7A1):c.7637T>A (p.Leu2546Ter)
NM_000094.4(COL7A1):c.7688G>A (p.Gly2563Asp) rs1064793904
NM_000094.4(COL7A1):c.7708del (p.Asp2570fs) rs2107639823
NM_000094.4(COL7A1):c.7711A>T (p.Lys2571Ter)
NM_000094.4(COL7A1):c.7756dup (p.Gln2586fs) rs2043739526
NM_000094.4(COL7A1):c.7759-14_7771delinsCCC rs2107638542
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs) rs759990189
NM_000094.4(COL7A1):c.7802del (p.Pro2601fs) rs1482828043
NM_000094.4(COL7A1):c.7828del (p.Arg2610fs) rs2107637340
NM_000094.4(COL7A1):c.7868G>A (p.Gly2623Asp)
NM_000094.4(COL7A1):c.7875+1G>C rs2107637140
NM_000094.4(COL7A1):c.793C>T (p.Gln265Ter)
NM_000094.4(COL7A1):c.7945_7946del (p.Pro2649fs)
NM_000094.4(COL7A1):c.7987G>T (p.Glu2663Ter)
NM_000094.4(COL7A1):c.79G>T (p.Glu27Ter) rs2107811815
NM_000094.4(COL7A1):c.8005C>T (p.Gln2669Ter) rs2107635149
NM_000094.4(COL7A1):c.8005_8009dup (p.Gly2671fs) rs2107635110
NM_000094.4(COL7A1):c.8012G>A (p.Gly2671Glu) rs886039329
NM_000094.4(COL7A1):c.8020G>C (p.Gly2674Arg) rs2107635006
NM_000094.4(COL7A1):c.8039G>A (p.Gly2680Asp)
NM_000094.4(COL7A1):c.8068C>T (p.Gln2690Ter)
NM_000094.4(COL7A1):c.806dup (p.Thr270fs)
NM_000094.4(COL7A1):c.8093del (p.Gly2698fs)
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.8156G>C (p.Gly2719Ala)
NM_000094.4(COL7A1):c.8165G>A (p.Gly2722Asp) rs759949767
NM_000094.4(COL7A1):c.8165G>T (p.Gly2722Val) rs759949767
NM_000094.4(COL7A1):c.8191G>A (p.Gly2731Ser)
NM_000094.4(COL7A1):c.8219G>C (p.Gly2740Ala) rs745691610
NM_000094.4(COL7A1):c.8219_8226+1delinsAC
NM_000094.4(COL7A1):c.8226+1del rs2107632493
NM_000094.4(COL7A1):c.8227-1G>A
NM_000094.4(COL7A1):c.8233C>T (p.Arg2745Ter) rs768202310
NM_000094.4(COL7A1):c.8244dup (p.Gly2749fs) rs2107632018
NM_000094.4(COL7A1):c.8253_8254dup (p.Val2752fs) rs1363308991
NM_000094.4(COL7A1):c.8263del (p.Ala2755fs) rs2107631937
NM_000094.4(COL7A1):c.8272del (p.Val2758fs) rs1553849789
NM_000094.4(COL7A1):c.8272dup (p.Val2758fs) rs1553849789
NM_000094.4(COL7A1):c.8302C>T (p.Gln2768Ter) rs2107631757
NM_000094.4(COL7A1):c.8304+1G>A rs759579761
NM_000094.4(COL7A1):c.8329C>T (p.Arg2777Ter) rs886039330
NM_000094.4(COL7A1):c.8333_8344del (p.Gly2778_Gly2781del)
NM_000094.4(COL7A1):c.8371del (p.Arg2791fs) rs2107630477
NM_000094.4(COL7A1):c.8457T>G (p.Tyr2819Ter) rs751768659
NM_000094.4(COL7A1):c.846+2T>C rs2045798629
NM_000094.4(COL7A1):c.846+2T>G
NM_000094.4(COL7A1):c.846G>A (p.Glu282=) rs770216458
NM_000094.4(COL7A1):c.84_85del (p.Arg28fs)
NM_000094.4(COL7A1):c.8503_8510del (p.Arg2835fs)
NM_000094.4(COL7A1):c.8505dup (p.Val2836fs)
NM_000094.4(COL7A1):c.8511_8512del (p.His2838fs) rs2107627594
NM_000094.4(COL7A1):c.8528-1G>C
NM_000094.4(COL7A1):c.8540_8541del (p.Pro2847fs) rs2107626681
NM_000094.4(COL7A1):c.8540dup (p.Pro2847_Glu2848insTer) rs2107626695
NM_000094.4(COL7A1):c.8541del (p.Glu2848fs) rs2043547588
NM_000094.4(COL7A1):c.8558_8568del (p.Tyr2852_Ser2853insTer) rs2043546317
NM_000094.4(COL7A1):c.8569G>T (p.Glu2857Ter) rs372166543
NM_000094.4(COL7A1):c.8574T>G (p.Tyr2858Ter)
NM_000094.4(COL7A1):c.8584G>T (p.Glu2862Ter) rs1262728824
NM_000094.4(COL7A1):c.8609G>A (p.Trp2870Ter)
NM_000094.4(COL7A1):c.8664del (p.Ala2887_Tyr2888insTer)
NM_000094.4(COL7A1):c.8679C>G (p.Tyr2893Ter) rs2043534139
NM_000094.4(COL7A1):c.8694_8715del (p.Gly2899fs)
NM_000094.4(COL7A1):c.8698_8708del (p.Ser2900fs)
NM_000094.4(COL7A1):c.8704del (p.Glu2902fs)
NM_000094.4(COL7A1):c.8707del (p.Ala2903fs) rs2107625491
NM_000094.4(COL7A1):c.8712T>A (p.Cys2904Ter)
NM_000094.4(COL7A1):c.8760del (p.Thr2921fs)
NM_000094.4(COL7A1):c.8786G>A (p.Cys2929Tyr)
NM_000094.4(COL7A1):c.8786G>T (p.Cys2929Phe)
NM_000094.4(COL7A1):c.887del (p.Gly296fs) rs1131691385
NM_000094.4(COL7A1):c.90del (p.Cys31fs) rs747209331
NM_000094.4(COL7A1):c.933C>G (p.Tyr311Ter)
NM_000094.4(COL7A1):c.976+1G>A
NM_000094.4(COL7A1):c.976del (p.Thr326fs) rs2107794257
NM_000094.4(COL7A1):c.97del (p.Arg33fs) rs2107807665

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