ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 339
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HGVS dbSNP
COL7A1, 14-BP DEL, NT33563
COL7A1, 16-BP DEL, NT6863
COL7A1, 5820G-A
COL7A1, IVS3DS, A-G, -2
COL7A1, IVS64DS, G-A, +1
COL7A1, IVS95DS, G-A, -1
NC_000003.11:g.(?_48601829)_(48632780_?)del
NC_000003.11:g.(?_48602206)_(48617500_?)del
NC_000003.12:g.48589471del rs1336602322
NC_000003.12:g.48595347G>A
NM_000094.3(COL7A1):c.1319del (p.Glu440fs) rs1559435706
NM_000094.3(COL7A1):c.1637-1G>A rs886058642
NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803
NM_000094.3(COL7A1):c.1781-1G>C rs1553614878
NM_000094.3(COL7A1):c.1A>G (p.Met1Val) rs1064797078
NM_000094.3(COL7A1):c.2005C>T (p.Arg669Ter) rs780261665
NM_000094.3(COL7A1):c.2291del (p.Pro764fs) rs775496394
NM_000094.3(COL7A1):c.2318_2321dup (p.Glu774delinsAspTer) rs1064797079
NM_000094.3(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.3(COL7A1):c.2607_2608del (p.Leu870fs) rs1085307849
NM_000094.3(COL7A1):c.267-1G>C rs1575495784
NM_000094.3(COL7A1):c.2699G>A (p.Trp900Ter) rs1349541188
NM_000094.3(COL7A1):c.2710+2T>C rs1553613528
NM_000094.3(COL7A1):c.2715_2722dup (p.Gln908fs) rs1553613303
NM_000094.3(COL7A1):c.2989C>T (p.Gln997Ter) rs1559423385
NM_000094.3(COL7A1):c.3376_3386del (p.Tyr1126fs) rs765699235
NM_000094.3(COL7A1):c.3515_3524dup (p.Ser1175fs) rs1575472776
NM_000094.3(COL7A1):c.3631C>T (p.Gln1211Ter) rs747522386
NM_000094.3(COL7A1):c.3751_3752insACCA (p.Cys1251fs) rs1064795917
NM_000094.3(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.3(COL7A1):c.3861del (p.Pro1289fs) rs1575470363
NM_000094.3(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.3(COL7A1):c.3971del (p.Leu1324fs) rs886044621
NM_000094.3(COL7A1):c.4011+1G>A rs1553862581
NM_000094.3(COL7A1):c.4027C>T (p.Arg1343Ter) rs761234904
NM_000094.3(COL7A1):c.4039G>C (p.Gly1347Arg) rs121912833
NM_000094.3(COL7A1):c.409C>T (p.Arg137Ter) rs1203706188
NM_000094.3(COL7A1):c.4119+1G>T rs1575467199
NM_000094.3(COL7A1):c.4120-1G>C rs1299648939
NM_000094.3(COL7A1):c.4233del (p.Gly1412fs) rs1560241522
NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) rs121912856
NM_000094.3(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857
NM_000094.3(COL7A1):c.4448G>A (p.Gly1483Asp) rs756217590
NM_000094.3(COL7A1):c.4466del (p.Gly1489fs) rs886041885
NM_000094.3(COL7A1):c.4556G>A (p.Gly1519Asp) rs121912835
NM_000094.3(COL7A1):c.4565G>A (p.Gly1522Glu) rs387906605
NM_000094.3(COL7A1):c.4568del (p.Pro1523fs) rs778165989
NM_000094.3(COL7A1):c.4670G>A (p.Gly1557Glu) rs1057520566
NM_000094.3(COL7A1):c.4767del (p.Asp1590fs) rs1057517721
NM_000094.3(COL7A1):c.4783G>C (p.Gly1595Arg) rs121912840
NM_000094.3(COL7A1):c.4871del (p.Pro1624fs) rs1064797082
NM_000094.3(COL7A1):c.4888C>T (p.Arg1630Ter) rs121912847
NM_000094.3(COL7A1):c.4894C>T (p.Arg1632Ter) rs751535193
NM_000094.3(COL7A1):c.4919del (p.Gly1640fs) rs1057517722
NM_000094.3(COL7A1):c.4928G>A (p.Gly1643Asp) rs1057520567
NM_000094.3(COL7A1):c.5015del (p.Lys1672fs) rs1064793499
NM_000094.3(COL7A1):c.5027G>A (p.Gly1676Glu) rs886041188
NM_000094.3(COL7A1):c.5035G>A (p.Gly1679Arg) rs1131691601
NM_000094.3(COL7A1):c.5048_5051dup (p.Asn1684fs) rs1276678432
NM_000094.3(COL7A1):c.5173G>A (p.Gly1725Arg) rs772195825
NM_000094.3(COL7A1):c.5261dup (p.Gly1755fs) rs1057517723
NM_000094.3(COL7A1):c.5273G>T (p.Gly1758Val) rs1553857986
NM_000094.3(COL7A1):c.5291G>C (p.Gly1764Ala) rs1057520568
NM_000094.3(COL7A1):c.5300G>A (p.Gly1767Glu) rs886039720
NM_000094.3(COL7A1):c.5344G>A (p.Gly1782Arg) rs374718902
NM_000094.3(COL7A1):c.5344G>T (p.Gly1782Ter) rs374718902
NM_000094.3(COL7A1):c.5388+5G>A rs1057523751
NM_000094.3(COL7A1):c.5425-1G>C rs112850769
NM_000094.3(COL7A1):c.5443G>A (p.Gly1815Arg) rs121912841
NM_000094.3(COL7A1):c.5532+1G>A rs767182886
NM_000094.3(COL7A1):c.5585C>G (p.Ser1862Ter) rs1013627013
NM_000094.3(COL7A1):c.5605G>C (p.Gly1869Arg) rs1057517724
NM_000094.3(COL7A1):c.5659_5666dup (p.Pro1892fs) rs1553855974
NM_000094.3(COL7A1):c.5701-1G>T rs1553855868
NM_000094.3(COL7A1):c.5720_5721delinsAT (p.Gly1907Asp) rs1057517725
NM_000094.3(COL7A1):c.5767del (p.Glu1923fs) rs1575442816
NM_000094.3(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
NM_000094.3(COL7A1):c.5819del (p.Pro1940fs) rs1575442301
NM_000094.3(COL7A1):c.5869C>T (p.Arg1957Trp) rs747081862
NM_000094.3(COL7A1):c.58C>T (p.Arg20Ter) rs886039562
NM_000094.3(COL7A1):c.5924_5927del (p.Glu1975fs) rs1064797080
NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg) rs121912832
NM_000094.3(COL7A1):c.6017G>A (p.Gly2006Asp) rs121912842
NM_000094.3(COL7A1):c.6044G>A (p.Gly2015Glu) rs121912843
NM_000094.3(COL7A1):c.6074del (p.Gly2025fs) rs886041417
NM_000094.3(COL7A1):c.6081del (p.Pro2029fs) rs780623622
NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838
NM_000094.3(COL7A1):c.6101G>C (p.Gly2034Ala) rs1057520530
NM_000094.3(COL7A1):c.6109G>A (p.Gly2037Arg) rs1057520599
NM_000094.3(COL7A1):c.6110G>A (p.Gly2037Glu) rs121912846
NM_000094.3(COL7A1):c.6118G>A (p.Gly2040Ser) rs121912829
NM_000094.3(COL7A1):c.6127G>T (p.Gly2043Trp) rs121912836
NM_000094.3(COL7A1):c.6164G>A (p.Gly2055Glu) rs1553854678
NM_000094.3(COL7A1):c.6176A>G (p.Glu2059Gly) rs1057517726
NM_000094.3(COL7A1):c.6190G>A (p.Gly2064Arg) rs866061439
NM_000094.3(COL7A1):c.6218G>T (p.Gly2073Val) rs121912848
NM_000094.3(COL7A1):c.6227G>A (p.Gly2076Asp) rs121912850
NM_000094.3(COL7A1):c.6262G>A (p.Gly2088Arg) rs573432153
NM_000094.3(COL7A1):c.6394G>C (p.Gly2132Arg) rs1131691559
NM_000094.3(COL7A1):c.657del (p.Gly220fs) rs1575494051
NM_000094.3(COL7A1):c.6656dup (p.Thr2220fs) rs757406252
NM_000094.3(COL7A1):c.6724G>A (p.Gly2242Arg) rs121912837
NM_000094.3(COL7A1):c.6724G>C (p.Gly2242Arg) rs121912837
NM_000094.3(COL7A1):c.6751G>A (p.Gly2251Arg) rs765034336
NM_000094.3(COL7A1):c.6752G>A (p.Gly2251Glu) rs121912834
NM_000094.3(COL7A1):c.6769G>A (p.Gly2257Arg) rs886041189
NM_000094.3(COL7A1):c.6770G>C (p.Gly2257Ala) rs1057517969
NM_000094.3(COL7A1):c.682+1G>A rs775288140
NM_000094.3(COL7A1):c.6842G>C (p.Gly2281Ala) rs1064793915
NM_000094.3(COL7A1):c.6864_6879del (p.Lys2289fs) rs1553853022
NM_000094.3(COL7A1):c.6900+1G>A rs1064793908
NM_000094.3(COL7A1):c.6900+4A>G rs1057518706
NM_000094.3(COL7A1):c.6946G>A (p.Gly2316Arg) rs1575430201
NM_000094.3(COL7A1):c.7012C>T (p.Arg2338Ter) rs745874032
NM_000094.3(COL7A1):c.7078G>A (p.Gly2360Arg) rs916512411
NM_000094.3(COL7A1):c.7219G>A (p.Gly2407Ser) rs774332349
NM_000094.3(COL7A1):c.7234C>T (p.Arg2412Ter) rs1342522878
NM_000094.3(COL7A1):c.7344G>A (p.Val2448=) rs201728948
NM_000094.3(COL7A1):c.7411C>T (p.Arg2471Ter) rs121912852
NM_000094.3(COL7A1):c.7442G>A (p.Gly2481Asp) rs886039328
NM_000094.3(COL7A1):c.7462C>T (p.Gln2488Ter) rs1553851245
NM_000094.3(COL7A1):c.7485+5G>A rs988031901
NM_000094.3(COL7A1):c.751C>T (p.Gln251Ter) rs1211890738
NM_000094.3(COL7A1):c.7688G>A (p.Gly2563Asp) rs1064793904
NM_000094.3(COL7A1):c.7723G>A (p.Gly2575Arg) rs760891216
NM_000094.3(COL7A1):c.7787del (p.Gly2596fs) rs759990189
NM_000094.3(COL7A1):c.7828C>T (p.Arg2610Ter) rs1064793916
NM_000094.3(COL7A1):c.7865G>A (p.Arg2622Gln) rs368529673
NM_000094.3(COL7A1):c.7867G>T (p.Gly2623Cys) rs121912831
NM_000094.3(COL7A1):c.7957G>A (p.Gly2653Arg) rs121912851
NM_000094.3(COL7A1):c.8012G>A (p.Gly2671Glu) rs886039329
NM_000094.3(COL7A1):c.8102G>T (p.Gly2701Val) rs1057520693
NM_000094.3(COL7A1):c.8245G>A (p.Gly2749Arg) rs121912853
NM_000094.3(COL7A1):c.8272del (p.Val2758fs) rs1553849789
NM_000094.3(COL7A1):c.8278G>A (p.Gly2760Arg) rs1064797081
NM_000094.3(COL7A1):c.8329C>T (p.Arg2777Ter) rs886039330
NM_000094.3(COL7A1):c.8393T>A (p.Met2798Lys) rs121912828
NM_000094.3(COL7A1):c.8440C>T (p.Arg2814Ter) rs143457874
NM_000094.3(COL7A1):c.8479C>T (p.Gln2827Ter) rs387906604
NM_000094.3(COL7A1):c.933C>A (p.Tyr311Ter) rs121912830
NM_000094.4(COL7A1):c.1045_1046del (p.Ser349fs)
NM_000094.4(COL7A1):c.105C>A (p.Tyr35Ter)
NM_000094.4(COL7A1):c.126dup (p.Leu43fs)
NM_000094.4(COL7A1):c.1423C>T (p.Gln475Ter)
NM_000094.4(COL7A1):c.1452_1453del (p.Tyr485fs) rs752558942
NM_000094.4(COL7A1):c.1474_1505del (p.Glu492fs)
NM_000094.4(COL7A1):c.1507G>A (p.Gly503Arg)
NM_000094.4(COL7A1):c.1564C>T (p.Gln522Ter)
NM_000094.4(COL7A1):c.1573C>T rs368007918
NM_000094.4(COL7A1):c.1589del (p.Pro530fs)
NM_000094.4(COL7A1):c.1758del (p.Ser587fs)
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter)
NM_000094.4(COL7A1):c.1953_1954dup (p.Ile652fs)
NM_000094.4(COL7A1):c.2044C>T (p.Arg682Ter)
NM_000094.4(COL7A1):c.2142A>G (p.Gly714=)
NM_000094.4(COL7A1):c.2223_2226dup (p.Leu743fs) rs1057517720
NM_000094.4(COL7A1):c.2305_2314delinsTT (p.Val769fs)
NM_000094.4(COL7A1):c.2463dup (p.Leu822fs)
NM_000094.4(COL7A1):c.2527C>T (p.Arg843Ter)
NM_000094.4(COL7A1):c.2588C>G (p.Pro863Arg)
NM_000094.4(COL7A1):c.267-3C>G
NM_000094.4(COL7A1):c.2722C>T (p.Gln908Ter)
NM_000094.4(COL7A1):c.2722_2723del (p.Gln908fs)
NM_000094.4(COL7A1):c.2737G>A (p.Gly913Arg)
NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs)
NM_000094.4(COL7A1):c.2984dup (p.Gly996fs)
NM_000094.4(COL7A1):c.2992+2T>G
NM_000094.4(COL7A1):c.3130C>T (p.Gln1044Ter)
NM_000094.4(COL7A1):c.3140-1G>A rs886041187
NM_000094.4(COL7A1):c.3148del (p.Arg1050fs)
NM_000094.4(COL7A1):c.3170_3173del (p.Phe1057fs)
NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs)
NM_000094.4(COL7A1):c.3277-1G>C
NM_000094.4(COL7A1):c.3294C>G (p.Tyr1098Ter)
NM_000094.4(COL7A1):c.3310delinsAA (p.Pro1104fs)
NM_000094.4(COL7A1):c.336C>G (p.Tyr112Ter)
NM_000094.4(COL7A1):c.3437T>A (p.Leu1146Ter)
NM_000094.4(COL7A1):c.3473del (p.Pro1158fs)
NM_000094.4(COL7A1):c.3702T>A (p.Cys1234Ter)
NM_000094.4(COL7A1):c.3759+1G>T
NM_000094.4(COL7A1):c.3759+2T>G
NM_000094.4(COL7A1):c.3809C>T rs145068043
NM_000094.4(COL7A1):c.3830del (p.Pro1277fs)
NM_000094.4(COL7A1):c.3995G>A (p.Gly1332Asp)
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter)
NM_000094.4(COL7A1):c.4048-1G>T
NM_000094.4(COL7A1):c.4128delT rs1575466699
NM_000094.4(COL7A1):c.4147G>A (p.Gly1383Arg)
NM_000094.4(COL7A1):c.4184del (p.Gly1395fs)
NM_000094.4(COL7A1):c.4197+1G>T
NM_000094.4(COL7A1):c.4322del (p.Pro1441fs)
NM_000094.4(COL7A1):c.4343G>A (p.Gly1448Asp)
NM_000094.4(COL7A1):c.4401+1G>A
NM_000094.4(COL7A1):c.4434dup (p.Lys1479fs)
NM_000094.4(COL7A1):c.4478del (p.Glu1493fs)
NM_000094.4(COL7A1):c.448G>C (p.Gly150Arg)
NM_000094.4(COL7A1):c.4531_4564-42del
NM_000094.4(COL7A1):c.4550_4554del (p.Ala1517fs)
NM_000094.4(COL7A1):c.4588C>T (p.Gln1530Ter)
NM_000094.4(COL7A1):c.4603G>T (p.Glu1535Ter)
NM_000094.4(COL7A1):c.4621del (p.Asp1541fs)
NM_000094.4(COL7A1):c.4783-1G>A
NM_000094.4(COL7A1):c.4899+31G>A
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=)
NM_000094.4(COL7A1):c.497dupA rs766902987
NM_000094.4(COL7A1):c.4980+1G>T
NM_000094.4(COL7A1):c.5017_5018del (p.Gly1673fs)
NM_000094.4(COL7A1):c.5047C>T rs760063197
NM_000094.4(COL7A1):c.5096C>T rs121912845
NM_000094.4(COL7A1):c.5130_5131insCTCAC (p.Thr1711fs)
NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs)
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter)
NM_000094.4(COL7A1):c.5287C>T (p.Arg1763Ter)
NM_000094.4(COL7A1):c.5327G>A (p.Gly1776Glu)
NM_000094.4(COL7A1):c.5381G>A (p.Gly1794Glu)
NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys)
NM_000094.4(COL7A1):c.5449C>T (p.Gln1817Ter)
NM_000094.4(COL7A1):c.5499C>T rs758886532
NM_000094.4(COL7A1):c.5531dup (p.Asn1844fs)
NM_000094.4(COL7A1):c.5532+1G>T
NM_000094.4(COL7A1):c.5532+6T>C
NM_000094.4(COL7A1):c.553C>T rs886041186
NM_000094.4(COL7A1):c.5561_5565del (p.Gly1854fs)
NM_000094.4(COL7A1):c.5569-11_5569-3del
NM_000094.4(COL7A1):c.5576_5577del (p.Lys1859fs)
NM_000094.4(COL7A1):c.5656C>T (p.Gln1886Ter)
NM_000094.4(COL7A1):c.565C>T (p.Gln189Ter)
NM_000094.4(COL7A1):c.5755G>A (p.Gly1919Arg)
NM_000094.4(COL7A1):c.5771A>G (p.Gln1924Arg)
NM_000094.4(COL7A1):c.5772+1del
NM_000094.4(COL7A1):c.5820G>A rs200972872
NM_000094.4(COL7A1):c.5892_5905del (p.Asp1964fs)
NM_000094.4(COL7A1):c.58_70del (p.Arg20fs)
NM_000094.4(COL7A1):c.5932C>T rs1368134215
NM_000094.4(COL7A1):c.5944_5945delinsTA (p.Gly1982Ter)
NM_000094.4(COL7A1):c.6014_6021delinsGGG (p.Lys2005fs)
NM_000094.4(COL7A1):c.6022C>G (p.Arg2008Gly)
NM_000094.4(COL7A1):c.6022C>T rs1055680335
NM_000094.4(COL7A1):c.6034G>A (p.Gly2012Ser)
NM_000094.4(COL7A1):c.6041_6042del (p.Gln2014fs)
NM_000094.4(COL7A1):c.6041del (p.Gln2014fs) rs1575439903
NM_000094.4(COL7A1):c.6044G>T (p.Gly2015Val)
NM_000094.4(COL7A1):c.6081dup (p.Gly2028fs) rs780623622
NM_000094.4(COL7A1):c.6082G>A rs762162799
NM_000094.4(COL7A1):c.6100G>A rs121912844
NM_000094.4(COL7A1):c.6119G>A (p.Gly2040Asp)
NM_000094.4(COL7A1):c.6127G>A rs121912836
NM_000094.4(COL7A1):c.6132_6133insAGGCTC (p.Pro2045_Gly2046insArgLeu)
NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)
NM_000094.4(COL7A1):c.6178_6179del (p.Arg2060fs)
NM_000094.4(COL7A1):c.6181-2A>G
NM_000094.4(COL7A1):c.6182G>T (p.Gly2061Val)
NM_000094.4(COL7A1):c.6187C>T rs121912849
NM_000094.4(COL7A1):c.6193_6196del (p.Glu2065fs)
NM_000094.4(COL7A1):c.6205C>T rs121912855
NM_000094.4(COL7A1):c.6245del (p.Gly2082fs)
NM_000094.4(COL7A1):c.6266_6269del (p.Pro2089fs)
NM_000094.4(COL7A1):c.6341G>A (p.Gly2114Asp)
NM_000094.4(COL7A1):c.6343del (p.Ala2115fs)
NM_000094.4(COL7A1):c.6351delinsAT (p.Gly2117_Glu2118insTer) rs1575437481
NM_000094.4(COL7A1):c.639del (p.Arg214fs)
NM_000094.4(COL7A1):c.6501+1G>C
NM_000094.4(COL7A1):c.6501G>A rs767539005
NM_000094.4(COL7A1):c.6501G>T (p.Pro2167=)
NM_000094.4(COL7A1):c.6508C>T (p.Gln2170Ter)
NM_000094.4(COL7A1):c.6527dupC rs768128088
NM_000094.4(COL7A1):c.6528del (p.Gly2177fs)
NM_000094.4(COL7A1):c.6573+1G>C
NM_000094.4(COL7A1):c.6574-1G>C
NM_000094.4(COL7A1):c.6618+1G>A
NM_000094.4(COL7A1):c.6662G>C (p.Gly2221Ala)
NM_000094.4(COL7A1):c.6670G>T (p.Gly2224Ter)
NM_000094.4(COL7A1):c.6686C>T (p.Pro2229Leu)
NM_000094.4(COL7A1):c.6696dup (p.Gly2233fs)
NM_000094.4(COL7A1):c.6745C>T (p.Gln2249Ter)
NM_000094.4(COL7A1):c.6767C>T (p.Pro2256Leu)
NM_000094.4(COL7A1):c.6781C>T rs772381373
NM_000094.4(COL7A1):c.6859G>A rs121912839
NM_000094.4(COL7A1):c.6861A>G (p.Gly2287=)
NM_000094.4(COL7A1):c.6900+2T>G
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter)
NM_000094.4(COL7A1):c.7023+1G>A
NM_000094.4(COL7A1):c.7051G>A (p.Gly2351Arg)
NM_000094.4(COL7A1):c.7068+5G>A rs779875751
NM_000094.4(COL7A1):c.706C>T rs121912854
NM_000094.4(COL7A1):c.7097G>A (p.Gly2366Asp)
NM_000094.4(COL7A1):c.7104+5G>A
NM_000094.4(COL7A1):c.7249C>T (p.Gln2417Ter)
NM_000094.4(COL7A1):c.7270C>T (p.Arg2424Trp)
NM_000094.4(COL7A1):c.7272+5G>A
NM_000094.4(COL7A1):c.7283G>T (p.Gly2428Val)
NM_000094.4(COL7A1):c.7289dup (p.Gly2431fs)
NM_000094.4(COL7A1):c.7300G>A (p.Gly2434Arg)
NM_000094.4(COL7A1):c.7380+2T>C
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter)
NM_000094.4(COL7A1):c.7559G>T (p.Gly2520Val)
NM_000094.4(COL7A1):c.7651G>C (p.Gly2551Arg)
NM_000094.4(COL7A1):c.7686G>C (p.Lys2562Asn)
NM_000094.4(COL7A1):c.7738C>T (p.Arg2580Cys)
NM_000094.4(COL7A1):c.7756dup (p.Gln2586fs)
NM_000094.4(COL7A1):c.7760G>A (p.Gly2587Asp)
NM_000094.4(COL7A1):c.7802del (p.Pro2601fs)
NM_000094.4(COL7A1):c.7864C>T rs139318843
NM_000094.4(COL7A1):c.7864del (p.Arg2622fs)
NM_000094.4(COL7A1):c.7885G>C (p.Gly2629Arg)
NM_000094.4(COL7A1):c.7929+2T>C
NM_000094.4(COL7A1):c.7930-1G>C
NM_000094.4(COL7A1):c.7984-2del
NM_000094.4(COL7A1):c.8030del (p.Gly2677fs)
NM_000094.4(COL7A1):c.8038G>A (p.Gly2680Ser)
NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter)
NM_000094.4(COL7A1):c.8103_8104dup (p.Glu2702fs)
NM_000094.4(COL7A1):c.8107C>T (p.Arg2703Trp)
NM_000094.4(COL7A1):c.8156G>A (p.Gly2719Asp)
NM_000094.4(COL7A1):c.8165G>T (p.Gly2722Val)
NM_000094.4(COL7A1):c.8206G>A rs779942952
NM_000094.4(COL7A1):c.8209G>C (p.Gly2737Arg)
NM_000094.4(COL7A1):c.8212_8224del (p.Leu2738fs)
NM_000094.4(COL7A1):c.8233C>T (p.Arg2745Ter)
NM_000094.4(COL7A1):c.8244dup (p.Gly2749fs)
NM_000094.4(COL7A1):c.8253_8254dup (p.Val2752fs)
NM_000094.4(COL7A1):c.8263del (p.Ala2755fs)
NM_000094.4(COL7A1):c.8304+1G>A
NM_000094.4(COL7A1):c.8323G>A (p.Gly2775Ser)
NM_000094.4(COL7A1):c.8371del (p.Arg2791fs)
NM_000094.4(COL7A1):c.8457T>G (p.Tyr2819Ter)
NM_000094.4(COL7A1):c.84A>G rs1559444716
NM_000094.4(COL7A1):c.8537_8565del (p.Pro2846fs)
NM_000094.4(COL7A1):c.8540_8541del (p.Pro2847fs)
NM_000094.4(COL7A1):c.8558_8568del (p.Tyr2852_Ser2853insTer)
NM_000094.4(COL7A1):c.8572T>C (p.Tyr2858His)
NM_000094.4(COL7A1):c.8584G>T (p.Glu2862Ter)
NM_000094.4(COL7A1):c.86-8C>A
NM_000094.4(COL7A1):c.8679C>G (p.Tyr2893Ter)
NM_000094.4(COL7A1):c.8717del (p.Pro2906fs)
NM_000094.4(COL7A1):c.887delG rs1131691385
NM_000094.4(COL7A1):c.976+50_977-39del
NM_000094.4(COL7A1):c.977-33A>C

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