ClinVar Miner

List of variants in gene COL7A1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1190
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HGVS dbSNP
NC_000003.11:g.(?_48601829)_(48632780_?)del
NC_000003.11:g.(?_48602206)_(48617500_?)del
NM_000094.3(COL7A1):c.1032G>C (p.Leu344=) rs946311662
NM_000094.3(COL7A1):c.1062T>C (p.Thr354=) rs201697063
NM_000094.3(COL7A1):c.1098G>A (p.Gly366=) rs150776274
NM_000094.3(COL7A1):c.1176G>A (p.Glu392=) rs1362408873
NM_000094.3(COL7A1):c.1182C>T (p.Thr394=) rs1171155934
NM_000094.3(COL7A1):c.1191C>G (p.Thr397=) rs143270071
NM_000094.3(COL7A1):c.12G>A (p.Arg4=) rs1270204950
NM_000094.3(COL7A1):c.1332C>T (p.Tyr444=) rs1575490179
NM_000094.3(COL7A1):c.1357+8C>T rs368098361
NM_000094.3(COL7A1):c.1370C>T (p.Pro457Leu) rs200396882
NM_000094.3(COL7A1):c.1383A>G (p.Val461=) rs112805032
NM_000094.3(COL7A1):c.1411T>C (p.Leu471=) rs139564795
NM_000094.3(COL7A1):c.1443C>T (p.Arg481=) rs753173025
NM_000094.3(COL7A1):c.1473C>T (p.His491=) rs201847088
NM_000094.3(COL7A1):c.1485C>G (p.Thr495=) rs1575489466
NM_000094.3(COL7A1):c.1494C>T (p.Thr498=) rs776229982
NM_000094.3(COL7A1):c.1507+10C>T rs537188035
NM_000094.3(COL7A1):c.1527C>T (p.Ser509=) rs78149541
NM_000094.3(COL7A1):c.1613G>A (p.Arg538His) rs138791004
NM_000094.3(COL7A1):c.1628G>A (p.Ser543Asn) rs76410546
NM_000094.3(COL7A1):c.1637-1G>A rs886058642
NM_000094.3(COL7A1):c.1721G>A (p.Arg574Gln) rs201557549
NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803
NM_000094.3(COL7A1):c.1781-1G>C rs1553614878
NM_000094.3(COL7A1):c.1784C>T (p.Pro595Leu) rs2228561
NM_000094.3(COL7A1):c.1821G>C (p.Val607=) rs753531772
NM_000094.3(COL7A1):c.1836G>A (p.Thr612=) rs151186709
NM_000094.3(COL7A1):c.1836G>T (p.Thr612=) rs151186709
NM_000094.3(COL7A1):c.1860C>T (p.Pro620=) rs369313576
NM_000094.3(COL7A1):c.1970C>G (p.Pro657Arg) rs369972686
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.2010C>T (p.Gly670=) rs74861804
NM_000094.3(COL7A1):c.2106C>T (p.Val702=) rs75551775
NM_000094.3(COL7A1):c.2124G>A (p.Arg708=) rs760735053
NM_000094.3(COL7A1):c.2146A>G (p.Arg716Gly) rs143040168
NM_000094.3(COL7A1):c.2188T>C (p.Leu730=) rs1575482956
NM_000094.3(COL7A1):c.2242G>A (p.Glu748Lys) rs148411473
NM_000094.3(COL7A1):c.2291del (p.Pro764fs) rs775496394
NM_000094.3(COL7A1):c.2314+15G>A rs144483183
NM_000094.3(COL7A1):c.2318_2321dup (p.Glu774delinsAspTer) rs1064797079
NM_000094.3(COL7A1):c.2340G>A (p.Ser780=) rs747814933
NM_000094.3(COL7A1):c.2367C>T (p.Ser789=) rs139521707
NM_000094.3(COL7A1):c.2392G>A (p.Gly798Arg) rs202237834
NM_000094.3(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.3(COL7A1):c.2544C>T (p.Val848=) rs139545952
NM_000094.3(COL7A1):c.255C>T (p.Ser85=) rs1250100354
NM_000094.3(COL7A1):c.2577T>C (p.Val859=) rs747165097
NM_000094.3(COL7A1):c.2600C>T (p.Pro867Leu) rs191043504
NM_000094.3(COL7A1):c.2607_2608del (p.Leu870fs) rs1085307849
NM_000094.3(COL7A1):c.2622C>T (p.His874=) rs368634417
NM_000094.3(COL7A1):c.2634C>T (p.Arg878=) rs201412774
NM_000094.3(COL7A1):c.2662G>C (p.Glu888Gln) rs200523730
NM_000094.3(COL7A1):c.2667G>A (p.Pro889=) rs1319601204
NM_000094.3(COL7A1):c.2679G>A (p.Ala893=) rs374261595
NM_000094.3(COL7A1):c.2699G>A (p.Trp900Ter) rs1349541188
NM_000094.3(COL7A1):c.2710+2T>C rs1553613528
NM_000094.3(COL7A1):c.2711-4C>T rs1575477823
NM_000094.3(COL7A1):c.2715_2722dup (p.Gln908fs) rs1553613303
NM_000094.3(COL7A1):c.2742C>T (p.Pro914=) rs140193653
NM_000094.3(COL7A1):c.2766C>T (p.Asp922=) rs201424023
NM_000094.3(COL7A1):c.2817A>G (p.Pro939=) rs1264194
NM_000094.3(COL7A1):c.282G>A (p.Leu94=) rs778958806
NM_000094.3(COL7A1):c.2992+5dup rs754908793
NM_000094.3(COL7A1):c.2997G>A (p.Val999=) rs369633742
NM_000094.3(COL7A1):c.3009G>A (p.Pro1003=) rs1247318588
NM_000094.3(COL7A1):c.300G>A (p.Gly100=) rs1575495659
NM_000094.3(COL7A1):c.3018T>G (p.Leu1006=) rs766469119
NM_000094.3(COL7A1):c.3135G>A (p.Thr1045=) rs775612520
NM_000094.3(COL7A1):c.3139+12G>A rs2255532
NM_000094.3(COL7A1):c.3140-4A>T rs201656230
NM_000094.3(COL7A1):c.3182C>T (p.Ala1061Val) rs553468091
NM_000094.3(COL7A1):c.3232C>T (p.Arg1078Cys) rs149154108
NM_000094.3(COL7A1):c.3233G>A (p.Arg1078His) rs748471791
NM_000094.3(COL7A1):c.3263C>T (p.Pro1088Leu) rs529120446
NM_000094.3(COL7A1):c.3277-7A>G rs376192100
NM_000094.3(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563
NM_000094.3(COL7A1):c.3414G>A (p.Val1138=) rs181590433
NM_000094.3(COL7A1):c.3432C>T (p.Tyr1144=) rs199679633
NM_000094.3(COL7A1):c.3441A>G (p.Ala1147=) rs757434867
NM_000094.3(COL7A1):c.3515_3524dup (p.Ser1175fs) rs1575472776
NM_000094.3(COL7A1):c.3551-3T>G rs773263825
NM_000094.3(COL7A1):c.3555T>G (p.Leu1185=) rs769937344
NM_000094.3(COL7A1):c.3605G>A (p.Arg1202His) rs149011081
NM_000094.3(COL7A1):c.3612G>A (p.Ala1204=) rs762604188
NM_000094.3(COL7A1):c.3631C>T (p.Gln1211Ter) rs747522386
NM_000094.3(COL7A1):c.3663C>T (p.Ser1221=) rs949443709
NM_000094.3(COL7A1):c.3714C>T (p.Phe1238=) rs1380863838
NM_000094.3(COL7A1):c.3750T>C (p.Tyr1250=) rs558659528
NM_000094.3(COL7A1):c.3751_3752insACCA (p.Cys1251fs) rs1064795917
NM_000094.3(COL7A1):c.3753T>C (p.Cys1251=) rs764349883
NM_000094.3(COL7A1):c.3760-10C>G rs200169440
NM_000094.3(COL7A1):c.3786+10C>T rs1046501665
NM_000094.3(COL7A1):c.3816C>T (p.Gly1272=) rs138190232
NM_000094.3(COL7A1):c.3830C>T (p.Pro1277Leu) rs35761247
NM_000094.3(COL7A1):c.3831+1G>T rs776841521
NM_000094.3(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.3(COL7A1):c.3889G>A (p.Glu1297Lys) rs149881350
NM_000094.3(COL7A1):c.3893G>A (p.Arg1298Lys) rs530442803
NM_000094.3(COL7A1):c.3894+7G>A rs1191102186
NM_000094.3(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.3(COL7A1):c.3971del (p.Leu1324fs) rs886044621
NM_000094.3(COL7A1):c.3975+11C>T rs7637885
NM_000094.3(COL7A1):c.3976-10C>T rs745553627
NM_000094.3(COL7A1):c.3999T>C (p.Pro1333=) rs756134134
NM_000094.3(COL7A1):c.4011+1G>A rs1553862581
NM_000094.3(COL7A1):c.4012-8G>A rs773379113
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.4047+2T>C rs1365148358
NM_000094.3(COL7A1):c.4056C>T (p.Pro1352=) rs369136008
NM_000094.3(COL7A1):c.4068C>T (p.Ile1356=) rs146913953
NM_000094.3(COL7A1):c.409C>T (p.Arg137Ter) rs1203706188
NM_000094.3(COL7A1):c.4118C>T (p.Ser1373Leu) rs140403507
NM_000094.3(COL7A1):c.4120-7C>T rs908605682
NM_000094.3(COL7A1):c.4120-9C>A rs199914077
NM_000094.3(COL7A1):c.4191C>T (p.Ala1397=) rs112479160
NM_000094.3(COL7A1):c.4222C>T (p.Arg1408Trp) rs143126677
NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) rs121912856
NM_000094.3(COL7A1):c.4312G>A (p.Val1438Ile) rs148625586
NM_000094.3(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857
NM_000094.3(COL7A1):c.4401+7G>A rs777149309
NM_000094.3(COL7A1):c.4437+9C>T rs1256080865
NM_000094.3(COL7A1):c.4448G>A (p.Gly1483Asp) rs756217590
NM_000094.3(COL7A1):c.4458G>A (p.Gly1486=) rs1370750972
NM_000094.3(COL7A1):c.4466del (p.Gly1489fs) rs886041885
NM_000094.3(COL7A1):c.4483-11T>C rs74390291
NM_000094.3(COL7A1):c.4497C>T (p.Pro1499=) rs777908742
NM_000094.3(COL7A1):c.4509G>A (p.Ala1503=) rs748294033
NM_000094.3(COL7A1):c.4517G>A (p.Arg1506Gln) rs372793584
NM_000094.3(COL7A1):c.4518+7C>T rs377114408
NM_000094.3(COL7A1):c.4518+7_4518+8del rs904593332
NM_000094.3(COL7A1):c.4518+8C>T rs1219303545
NM_000094.3(COL7A1):c.4519-9C>T rs1575461480
NM_000094.3(COL7A1):c.4521G>C (p.Gly1507=) rs747087195
NM_000094.3(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392
NM_000094.3(COL7A1):c.4560T>A (p.Pro1520=) rs142686837
NM_000094.3(COL7A1):c.4568del (p.Pro1523fs) rs778165989
NM_000094.3(COL7A1):c.4600-7T>C rs1575460597
NM_000094.3(COL7A1):c.4600-9T>C rs894344282
NM_000094.3(COL7A1):c.4600G>A (p.Gly1534Arg) rs1553860378
NM_000094.3(COL7A1):c.4613G>A (p.Arg1538His) rs2229824
NM_000094.3(COL7A1):c.4670G>A (p.Gly1557Glu) rs1057520566
NM_000094.3(COL7A1):c.4719A>G (p.Glu1573=) rs558405095
NM_000094.3(COL7A1):c.4722+11C>T rs145729790
NM_000094.3(COL7A1):c.4755T>C (p.Pro1585=) rs898497866
NM_000094.3(COL7A1):c.4767del (p.Asp1590fs) rs1057517721
NM_000094.3(COL7A1):c.4782+9A>T rs369635501
NM_000094.3(COL7A1):c.4783-6C>T rs761361407
NM_000094.3(COL7A1):c.4864G>C (p.Gly1622Arg) rs786205561
NM_000094.3(COL7A1):c.4869C>T (p.Pro1623=) rs1575457693
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.4923C>T (p.Asp1641=) rs202165842
NM_000094.3(COL7A1):c.4928G>A (p.Gly1643Asp) rs1057520567
NM_000094.3(COL7A1):c.4944G>A (p.Pro1648=) rs111360822
NM_000094.3(COL7A1):c.4968G>A (p.Glu1656=) rs779192809
NM_000094.3(COL7A1):c.4992A>C (p.Gly1664=) rs139988431
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.5058C>T (p.Ser1686=) rs144700737
NM_000094.3(COL7A1):c.5098-5C>T rs886058637
NM_000094.3(COL7A1):c.5125-6C>T rs372345936
NM_000094.3(COL7A1):c.5154+5T>C rs2854400
NM_000094.3(COL7A1):c.5172C>T (p.Arg1724=) rs775290112
NM_000094.3(COL7A1):c.5173G>A (p.Gly1725Arg) rs772195825
NM_000094.3(COL7A1):c.5196C>T (p.Pro1732=) rs1575452130
NM_000094.3(COL7A1):c.520+9C>T rs368959634
NM_000094.3(COL7A1):c.5217T>A (p.Pro1739=) rs147611409
NM_000094.3(COL7A1):c.5259C>T (p.Pro1753=) rs151261530
NM_000094.3(COL7A1):c.5261dup (p.Gly1755fs) rs1057517723
NM_000094.3(COL7A1):c.5271+8A>G rs369192298
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.5307+7G>C rs116455408
NM_000094.3(COL7A1):c.5343C>T (p.Ser1781=) rs147919436
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.5368G>A (p.Ala1790Thr) rs780506505
NM_000094.3(COL7A1):c.5388+5G>A rs1057523751
NM_000094.3(COL7A1):c.540T>A (p.Pro180=) rs1473537751
NM_000094.3(COL7A1):c.540T>C (p.Pro180=) rs1473537751
NM_000094.3(COL7A1):c.5425-1G>C rs112850769
NM_000094.3(COL7A1):c.5427G>A (p.Gly1809=) rs770678998
NM_000094.3(COL7A1):c.543G>A (p.Glu181=) rs372458548
NM_000094.3(COL7A1):c.54G>C (p.Ala18=) rs35899847
NM_000094.3(COL7A1):c.5532+1G>A rs767182886
NM_000094.3(COL7A1):c.5548C>T (p.Pro1850Ser) rs761604061
NM_000094.3(COL7A1):c.5585C>G (p.Ser1862Ter) rs1013627013
NM_000094.3(COL7A1):c.5590G>A (p.Ala1864Thr) rs17080261
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.5715C>T (p.Val1905=) rs984384543
NM_000094.3(COL7A1):c.5720_5721delinsAT (p.Gly1907Asp) rs1057517725
NM_000094.3(COL7A1):c.5726C>T (p.Thr1909Met) rs201719223
NM_000094.3(COL7A1):c.5736+8C>T rs748842408
NM_000094.3(COL7A1):c.5737-1G>A rs1575442885
NM_000094.3(COL7A1):c.573C>G (p.Thr191=) rs776540069
NM_000094.3(COL7A1):c.5748G>A (p.Gly1916=) rs769232047
NM_000094.3(COL7A1):c.5767del (p.Glu1923fs) rs1575442816
NM_000094.3(COL7A1):c.5769G>A (p.Glu1923=) rs143843471
NM_000094.3(COL7A1):c.5771A>T (p.Gln1924Leu) rs746824716
NM_000094.3(COL7A1):c.5772+10C>T rs368195728
NM_000094.3(COL7A1):c.5778C>T (p.Leu1926=) rs113151410
NM_000094.3(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
NM_000094.3(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939
NM_000094.3(COL7A1):c.5850C>A (p.Gly1950=) rs767379643
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.5910C>T (p.Phe1970=) rs141290741
NM_000094.3(COL7A1):c.5930G>T (p.Arg1977Leu) rs182669506
NM_000094.3(COL7A1):c.5988C>T (p.Ile1996=) rs146901730
NM_000094.3(COL7A1):c.59G>C (p.Arg20Pro) rs755340663
NM_000094.3(COL7A1):c.6005G>A (p.Arg2002His) rs768326843
NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg) rs121912832
NM_000094.3(COL7A1):c.6054T>G (p.Gly2018=) rs537763577
NM_000094.3(COL7A1):c.6074del (p.Gly2025fs) rs886041417
NM_000094.3(COL7A1):c.6081C>T (p.Pro2027=) rs375047225
NM_000094.3(COL7A1):c.6081del (p.Pro2029fs) rs780623622
NM_000094.3(COL7A1):c.6090C>T (p.Ser2030=) rs200360245
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.6127G>T (p.Gly2043Trp) rs121912836
NM_000094.3(COL7A1):c.615G>A (p.Arg205=) rs774431651
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.6180+23A>T rs1553854648
NM_000094.3(COL7A1):c.6188G>A (p.Arg2063Gln) rs2229825
NM_000094.3(COL7A1):c.6190G>A (p.Gly2064Arg) rs866061439
NM_000094.3(COL7A1):c.6216+9C>T rs200855943
NM_000094.3(COL7A1):c.6217-5T>C rs756435479
NM_000094.3(COL7A1):c.6217-6C>T rs191559835
NM_000094.3(COL7A1):c.6262G>A (p.Gly2088Arg) rs573432153
NM_000094.3(COL7A1):c.6279+4A>T rs370622769
NM_000094.3(COL7A1):c.6280-8G>A rs1343979395
NM_000094.3(COL7A1):c.630C>T (p.Leu210=) rs117857033
NM_000094.3(COL7A1):c.6357G>A (p.Pro2119=) rs142298581
NM_000094.3(COL7A1):c.6394-9T>C rs374698863
NM_000094.3(COL7A1):c.6394G>C (p.Gly2132Arg) rs1131691559
NM_000094.3(COL7A1):c.6457-6C>T rs768239091
NM_000094.3(COL7A1):c.6500C>T (p.Pro2167Leu) rs200473808
NM_000094.3(COL7A1):c.6501+8G>T rs201392891
NM_000094.3(COL7A1):c.6502-10C>G rs200193957
NM_000094.3(COL7A1):c.6502-6A>C rs1575434977
NM_000094.3(COL7A1):c.6516A>G (p.Pro2172=) rs1401423123
NM_000094.3(COL7A1):c.6538-10G>A rs747313983
NM_000094.3(COL7A1):c.6573+10C>G rs1575434240
NM_000094.3(COL7A1):c.663C>T (p.Gly221=) rs367607652
NM_000094.3(COL7A1):c.6649C>T (p.Arg2217Trp) rs546653276
NM_000094.3(COL7A1):c.6654C>G (p.Gly2218=) rs151111203
NM_000094.3(COL7A1):c.6656dup (p.Thr2220fs) rs757406252
NM_000094.3(COL7A1):c.6696C>A (p.Pro2232=) rs61729223
NM_000094.3(COL7A1):c.6696C>T (p.Pro2232=) rs61729223
NM_000094.3(COL7A1):c.6715-6C>T rs200826657
NM_000094.3(COL7A1):c.6717T>G (p.Gly2239=) rs1425057780
NM_000094.3(COL7A1):c.6723G>A (p.Gln2241=) rs775756645
NM_000094.3(COL7A1):c.6751G>A (p.Gly2251Arg) rs765034336
NM_000094.3(COL7A1):c.675C>T (p.Thr225=) rs756726621
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.6800A>G (p.Lys2267Arg) rs574558938
NM_000094.3(COL7A1):c.682+1G>A rs775288140
NM_000094.3(COL7A1):c.683-8A>G rs113167762
NM_000094.3(COL7A1):c.6842G>C (p.Gly2281Ala) rs1064793915
NM_000094.3(COL7A1):c.6855_6881del (p.Val2286_Pro2294del) rs1553853012
NM_000094.3(COL7A1):c.6858C>T (p.Val2286=) rs745766922
NM_000094.3(COL7A1):c.6864_6879del (p.Lys2289fs) rs1553853022
NM_000094.3(COL7A1):c.6879C>T (p.Gly2293=) rs989603519
NM_000094.3(COL7A1):c.6900+1G>A rs1064793908
NM_000094.3(COL7A1):c.6900+4A>G rs1057518706
NM_000094.3(COL7A1):c.6936+8T>C rs374882140
NM_000094.3(COL7A1):c.6937-9C>G rs143589222
NM_000094.3(COL7A1):c.7008G>A (p.Gly2336=) rs117723065
NM_000094.3(COL7A1):c.7012C>T (p.Arg2338Ter) rs745874032
NM_000094.3(COL7A1):c.7037G>A (p.Arg2346His) rs201432371
NM_000094.3(COL7A1):c.7048C>T (p.Pro2350Ser) rs749870307
NM_000094.3(COL7A1):c.7078G>A (p.Gly2360Arg) rs916512411
NM_000094.3(COL7A1):c.7080G>A (p.Gly2360=) rs768904830
NM_000094.3(COL7A1):c.7095A>G (p.Lys2365=) rs748904295
NM_000094.3(COL7A1):c.7104+1G>A rs772756089
NM_000094.3(COL7A1):c.7128G>A (p.Pro2376=) rs776459582
NM_000094.3(COL7A1):c.7191C>A (p.Pro2397=) rs34360255
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.724G>A (p.Glu242Lys) rs549872555
NM_000094.3(COL7A1):c.7286C>T (p.Pro2429Leu) rs2229822
NM_000094.3(COL7A1):c.7313C>G (p.Pro2438Arg) rs185142403
NM_000094.3(COL7A1):c.7344G>A (p.Val2448=) rs201728948
NM_000094.3(COL7A1):c.7353T>C (p.Pro2451=) rs139461888
NM_000094.3(COL7A1):c.7380+8G>A rs560853464
NM_000094.3(COL7A1):c.7411C>T (p.Arg2471Ter) rs121912852
NM_000094.3(COL7A1):c.7416C>T (p.Gly2472=) rs142651194
NM_000094.3(COL7A1):c.7422T>C (p.Arg2474=) rs146250538
NM_000094.3(COL7A1):c.7425G>A (p.Gly2475=) rs267599856
NM_000094.3(COL7A1):c.7441-4C>T rs1575424146
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.7464G>A (p.Gln2488=) rs1575424040
NM_000094.3(COL7A1):c.7485+10G>A rs773906373
NM_000094.3(COL7A1):c.7485+5G>A rs988031901
NM_000094.3(COL7A1):c.7510C>T (p.Arg2504Cys) rs201897441
NM_000094.3(COL7A1):c.751C>T (p.Gln251Ter) rs1211890738
NM_000094.3(COL7A1):c.7581G>A (p.Gly2527=) rs530291076
NM_000094.3(COL7A1):c.7615-6A>T rs777157837
NM_000094.3(COL7A1):c.761C>T (p.Ala254Val) rs201916805
NM_000094.3(COL7A1):c.7674C>T (p.Asp2558=) rs201140493
NM_000094.3(COL7A1):c.7687-6C>T rs200429526
NM_000094.3(COL7A1):c.7688G>A (p.Gly2563Asp) rs1064793904
NM_000094.3(COL7A1):c.7722C>T (p.Ala2574=) rs141873874
NM_000094.3(COL7A1):c.7723G>A (p.Gly2575Arg) rs760891216
NM_000094.3(COL7A1):c.7758+10G>A rs371927547
NM_000094.3(COL7A1):c.7759-11_7759-10del rs1473242396
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.7876-5C>T rs769652554
NM_000094.3(COL7A1):c.7956C>T (p.Pro2652=) rs368225541
NM_000094.3(COL7A1):c.7957G>A (p.Gly2653Arg) rs121912851
NM_000094.3(COL7A1):c.7984-7del rs66737445
NM_000094.3(COL7A1):c.8012G>A (p.Gly2671Glu) rs886039329
NM_000094.3(COL7A1):c.802C>T (p.Pro268Ser) rs35623035
NM_000094.3(COL7A1):c.8037C>T (p.Ile2679=) rs112974441
NM_000094.3(COL7A1):c.8047-4C>T rs185429200
NM_000094.3(COL7A1):c.8064C>T (p.Asp2688=) rs546054756
NM_000094.3(COL7A1):c.8094C>T (p.Gly2698=) rs199936185
NM_000094.3(COL7A1):c.8095G>A (p.Glu2699Lys) rs200938473
NM_000094.3(COL7A1):c.8102G>T (p.Gly2701Val) rs1057520693
NM_000094.3(COL7A1):c.810G>A (p.Thr270=) rs138770708
NM_000094.3(COL7A1):c.8202C>T (p.Gly2734=) rs200292228
NM_000094.3(COL7A1):c.8205C>T (p.Pro2735=) rs535006469
NM_000094.3(COL7A1):c.8238T>C (p.Gly2746=) rs761159131
NM_000094.3(COL7A1):c.8240C>T (p.Pro2747Leu) rs139566877
NM_000094.3(COL7A1):c.8241C>T (p.Pro2747=) rs778839465
NM_000094.3(COL7A1):c.8244C>T (p.Pro2748=) rs749575902
NM_000094.3(COL7A1):c.8245G>A (p.Gly2749Arg) rs121912853
NM_000094.3(COL7A1):c.8266C>T (p.Pro2756Ser) rs755546809
NM_000094.3(COL7A1):c.8272del (p.Val2758fs) rs1553849789
NM_000094.3(COL7A1):c.8280A>G (p.Gly2760=) rs374365287
NM_000094.3(COL7A1):c.8305-20G>C rs17256786
NM_000094.3(COL7A1):c.8322C>T (p.Ala2774=) rs142948995
NM_000094.3(COL7A1):c.8329C>T (p.Arg2777Ter) rs886039330
NM_000094.3(COL7A1):c.8361G>A (p.Glu2787=) rs1575416744
NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193
NM_000094.3(COL7A1):c.8407+10G>T rs754593655
NM_000094.3(COL7A1):c.8440C>T (p.Arg2814Ter) rs143457874
NM_000094.3(COL7A1):c.846G>A (p.Glu282=) rs770216458
NM_000094.3(COL7A1):c.8472C>T (p.Ala2824=) rs116591500
NM_000094.3(COL7A1):c.85+9C>T rs756865365
NM_000094.3(COL7A1):c.8504G>A (p.Arg2835His) rs139014122
NM_000094.3(COL7A1):c.8514T>C (p.His2838=) rs781022857
NM_000094.3(COL7A1):c.8524_8527+10del rs566181351
NM_000094.3(COL7A1):c.8527+9A>G rs780284810
NM_000094.3(COL7A1):c.852C>T (p.Asn284=) rs765324289
NM_000094.3(COL7A1):c.8530C>T (p.Arg2844Trp) rs138002006
NM_000094.3(COL7A1):c.8541T>C (p.Pro2847=) rs79473918
NM_000094.3(COL7A1):c.8568C>T (p.Ser2856=) rs148454724
NM_000094.3(COL7A1):c.8583G>A (p.Glu2861=) rs368947460
NM_000094.3(COL7A1):c.86-8C>G rs1012398135
NM_000094.3(COL7A1):c.8620+18_8620+19insGCC rs138595277
NM_000094.3(COL7A1):c.8791C>T (p.Pro2931Ser) rs145381088
NM_000094.3(COL7A1):c.89C>T (p.Thr30Ile) rs74453879
NM_000094.3(COL7A1):c.903C>T (p.Thr301=) rs369040036
NM_000094.3(COL7A1):c.923T>C (p.Ile308Thr) rs145738101
NM_000094.3(COL7A1):c.933C>T (p.Tyr311=) rs121912830
NM_000094.3(COL7A1):c.945C>T (p.Ile315=) rs761431565
NM_000094.3(COL7A1):c.951G>A (p.Glu317=) rs1482481603
NM_000094.3(COL7A1):c.960C>T (p.Ser320=) rs141801873
NM_000094.3(COL7A1):c.966A>G (p.Thr322=) rs778628467
NM_000094.4(COL7A1):c.1043G>A (p.Arg348Gln)
NM_000094.4(COL7A1):c.1045_1046del (p.Ser349fs)
NM_000094.4(COL7A1):c.105C>A (p.Tyr35Ter)
NM_000094.4(COL7A1):c.105C>T (p.Tyr35=)
NM_000094.4(COL7A1):c.108C>T (p.Ala36=)
NM_000094.4(COL7A1):c.1094-6A>T
NM_000094.4(COL7A1):c.1094-9C>T
NM_000094.4(COL7A1):c.1107G>A (p.Gln369=)
NM_000094.4(COL7A1):c.111T>G (p.Ala37=)
NM_000094.4(COL7A1):c.1158G>A (p.Glu386=)
NM_000094.4(COL7A1):c.1167G>A (p.Thr389=)
NM_000094.4(COL7A1):c.1191C>T (p.Thr397=)
NM_000094.4(COL7A1):c.1200C>T (p.Gly400=)
NM_000094.4(COL7A1):c.1215C>G (p.Pro405=)
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=)
NM_000094.4(COL7A1):c.1225C>T (p.Leu409=)
NM_000094.4(COL7A1):c.1240+1G>T
NM_000094.4(COL7A1):c.1241-10C>T
NM_000094.4(COL7A1):c.1241-4G>A
NM_000094.4(COL7A1):c.1241-7T>C
NM_000094.4(COL7A1):c.1242C>T rs373138319
NM_000094.4(COL7A1):c.1260C>T (p.Thr420=)
NM_000094.4(COL7A1):c.1275C>T (p.Ile425=)
NM_000094.4(COL7A1):c.1293C>T (p.Ile431=)
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys)
NM_000094.4(COL7A1):c.1345C>T (p.Arg449Trp)
NM_000094.4(COL7A1):c.1347G>A (p.Arg449=)
NM_000094.4(COL7A1):c.1357+8C>A
NM_000094.4(COL7A1):c.1357+9G>A
NM_000094.4(COL7A1):c.1358-10T>C
NM_000094.4(COL7A1):c.1368A>C (p.Pro456=)
NM_000094.4(COL7A1):c.1389C>T (p.Pro463=)
NM_000094.4(COL7A1):c.1402C>T (p.Arg468Cys)
NM_000094.4(COL7A1):c.1428G>A (p.Pro476=)
NM_000094.4(COL7A1):c.1434T>A (p.Thr478=)
NM_000094.4(COL7A1):c.1449A>G (p.Thr483=)
NM_000094.4(COL7A1):c.144C>G (p.Ser48=)
NM_000094.4(COL7A1):c.1452_1453del (p.Tyr485fs) rs752558942
NM_000094.4(COL7A1):c.1474_1505del (p.Glu492fs)
NM_000094.4(COL7A1):c.1485C>T (p.Thr495=)
NM_000094.4(COL7A1):c.1503C>T (p.Pro501=)
NM_000094.4(COL7A1):c.1508-9C>G
NM_000094.4(COL7A1):c.1508-9C>T
NM_000094.4(COL7A1):c.1551C>T (p.Thr517=)
NM_000094.4(COL7A1):c.1564C>T (p.Gln522Ter)
NM_000094.4(COL7A1):c.1573C>T rs368007918
NM_000094.4(COL7A1):c.1575A>G (p.Arg525=)
NM_000094.4(COL7A1):c.1589del (p.Pro530fs)
NM_000094.4(COL7A1):c.1593C>A (p.Val531=)
NM_000094.4(COL7A1):c.1615A>T (p.Ile539Phe)
NM_000094.4(COL7A1):c.1650C>G (p.Thr550=)
NM_000094.4(COL7A1):c.1681G>A (p.Asp561Asn)
NM_000094.4(COL7A1):c.1692C>T (p.Asp564=)
NM_000094.4(COL7A1):c.1716T>C (p.Thr572=)
NM_000094.4(COL7A1):c.1725G>A (p.Val575=)
NM_000094.4(COL7A1):c.1781-2A>G
NM_000094.4(COL7A1):c.1785G>A (p.Pro595=)
NM_000094.4(COL7A1):c.1785G>C (p.Pro595=)
NM_000094.4(COL7A1):c.1791T>C (p.Thr597=)
NM_000094.4(COL7A1):c.1824G>A (p.Val608=)
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter)
NM_000094.4(COL7A1):c.1857A>G (p.Gly619=)
NM_000094.4(COL7A1):c.1861G>A (p.Val621Ile)
NM_000094.4(COL7A1):c.1865C>A (p.Pro622His)
NM_000094.4(COL7A1):c.189G>A (p.Gly63=)
NM_000094.4(COL7A1):c.18G>T (p.Leu6=)
NM_000094.4(COL7A1):c.1906+8T>C
NM_000094.4(COL7A1):c.1906+9G>A
NM_000094.4(COL7A1):c.1907-9T>C
NM_000094.4(COL7A1):c.1907G>T rs116005007
NM_000094.4(COL7A1):c.1910C>T (p.Pro637Leu)
NM_000094.4(COL7A1):c.1914G>A (p.Glu638=)
NM_000094.4(COL7A1):c.1926A>G (p.Thr642=)
NM_000094.4(COL7A1):c.1929G>A (p.Leu643=)
NM_000094.4(COL7A1):c.1932C>T (p.Pro644=)
NM_000094.4(COL7A1):c.1953_1954dup (p.Ile652fs)
NM_000094.4(COL7A1):c.196C>T (p.Leu66=)
NM_000094.4(COL7A1):c.1995G>T (p.Val665=)
NM_000094.4(COL7A1):c.1998G>A (p.Ser666=)
NM_000094.4(COL7A1):c.2019G>A (p.Glu673=)
NM_000094.4(COL7A1):c.2037C>T (p.Ile679=)
NM_000094.4(COL7A1):c.2050+19C>G
NM_000094.4(COL7A1):c.2050+8C>A
NM_000094.4(COL7A1):c.2072C>T (p.Thr691Met)
NM_000094.4(COL7A1):c.2073G>A (p.Thr691=)
NM_000094.4(COL7A1):c.2100A>C rs756201098
NM_000094.4(COL7A1):c.210A>G (p.Gly70=)
NM_000094.4(COL7A1):c.2133C>T (p.Gly711=)
NM_000094.4(COL7A1):c.2170+10G>C
NM_000094.4(COL7A1):c.2184C>A (p.Ser728=)
NM_000094.4(COL7A1):c.219T>C (p.Ser73=)
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)
NM_000094.4(COL7A1):c.2205C>T (p.Ala735=)
NM_000094.4(COL7A1):c.2208G>A (p.Thr736=)
NM_000094.4(COL7A1):c.2223T>C (p.Asp741=)
NM_000094.4(COL7A1):c.2223_2226dup (p.Leu743fs) rs1057517720
NM_000094.4(COL7A1):c.2229G>A (p.Leu743=)
NM_000094.4(COL7A1):c.2250G>A (p.Thr750=)
NM_000094.4(COL7A1):c.2250G>T (p.Thr750=)
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=)
NM_000094.4(COL7A1):c.2301G>T (p.Val767=)
NM_000094.4(COL7A1):c.2305_2314delinsTT (p.Val769fs)
NM_000094.4(COL7A1):c.2315-10C>T
NM_000094.4(COL7A1):c.2315-8G>T
NM_000094.4(COL7A1):c.2370C>T (p.Asp790=)
NM_000094.4(COL7A1):c.2371G>A (p.Val791Ile)
NM_000094.4(COL7A1):c.2376A>G (p.Leu792=)
NM_000094.4(COL7A1):c.2391A>C (p.Val797=)
NM_000094.4(COL7A1):c.2441-10A>C
NM_000094.4(COL7A1):c.2441-18G>A
NM_000094.4(COL7A1):c.2442C>A (p.Gly814=)
NM_000094.4(COL7A1):c.2449A>G (p.Met817Val)
NM_000094.4(COL7A1):c.2463dup (p.Leu822fs)
NM_000094.4(COL7A1):c.2466C>G (p.Leu822=)
NM_000094.4(COL7A1):c.246G>T (p.Val82=)
NM_000094.4(COL7A1):c.2478A>C (p.Thr826=)
NM_000094.4(COL7A1):c.2502C>T (p.Leu834=)
NM_000094.4(COL7A1):c.2503G>A (p.Glu835Lys)
NM_000094.4(COL7A1):c.2527C>T (p.Arg843Ter)
NM_000094.4(COL7A1):c.2545G>A (p.Gly849Arg)
NM_000094.4(COL7A1):c.2553C>A rs577279100
NM_000094.4(COL7A1):c.2565T>G (p.Pro855=)
NM_000094.4(COL7A1):c.2587+10G>A
NM_000094.4(COL7A1):c.2587+1G>A
NM_000094.4(COL7A1):c.2587+1G>C
NM_000094.4(COL7A1):c.2587+40G>A
NM_000094.4(COL7A1):c.2588-6C>T
NM_000094.4(COL7A1):c.2589G>A (p.Pro863=)
NM_000094.4(COL7A1):c.2601G>A (p.Pro867=)
NM_000094.4(COL7A1):c.2604A>T (p.Pro868=)
NM_000094.4(COL7A1):c.2625_2626delinsCT (p.Val876Leu)
NM_000094.4(COL7A1):c.2646G>A (p.Ser882=)
NM_000094.4(COL7A1):c.2666C>T (p.Pro889Leu)
NM_000094.4(COL7A1):c.267-6C>T
NM_000094.4(COL7A1):c.267-7C>T
NM_000094.4(COL7A1):c.2711-5C>T
NM_000094.4(COL7A1):c.2711-6C>T
NM_000094.4(COL7A1):c.2721A>G (p.Glu907=)
NM_000094.4(COL7A1):c.2722C>T (p.Gln908Ter)
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)
NM_000094.4(COL7A1):c.2748C>G (p.Leu916=)
NM_000094.4(COL7A1):c.2781G>A (p.Ala927=)
NM_000094.4(COL7A1):c.2791C>A (p.Arg931Ser)
NM_000094.4(COL7A1):c.2791C>T (p.Arg931Cys)
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His)
NM_000094.4(COL7A1):c.2793C>T (p.Arg931=)
NM_000094.4(COL7A1):c.2796G>C (p.Val932=)
NM_000094.4(COL7A1):c.279C>G (p.Gly93=)
NM_000094.4(COL7A1):c.27G>A (p.Ala9=)
NM_000094.4(COL7A1):c.27G>T (p.Ala9=)
NM_000094.4(COL7A1):c.2805T>C (p.Ser935=)
NM_000094.4(COL7A1):c.2808C>T (p.Val936=)
NM_000094.4(COL7A1):c.2809C>T (p.Leu937=)
NM_000094.4(COL7A1):c.280C>T (p.Leu94=)
NM_000094.4(COL7A1):c.2817A>T (p.Pro939=)
NM_000094.4(COL7A1):c.2835T>A (p.Ser945=)
NM_000094.4(COL7A1):c.2850G>A (p.Ala950=)
NM_000094.4(COL7A1):c.2850G>C (p.Ala950=)
NM_000094.4(COL7A1):c.2859G>A (p.Glu953=)
NM_000094.4(COL7A1):c.2892G>C (p.Val964=)
NM_000094.4(COL7A1):c.2904G>A (p.Ser968=)
NM_000094.4(COL7A1):c.2907C>T (p.Ile969=)
NM_000094.4(COL7A1):c.2910C>T (p.Asp970=)
NM_000094.4(COL7A1):c.2913G>C (p.Ser971=)
NM_000094.4(COL7A1):c.2919T>C (p.Thr973=)
NM_000094.4(COL7A1):c.291T>C (p.Leu97=)
NM_000094.4(COL7A1):c.2925C>G (p.Ala975=)
NM_000094.4(COL7A1):c.2934A>C (p.Pro978=)
NM_000094.4(COL7A1):c.2934A>G (p.Pro978=)
NM_000094.4(COL7A1):c.2958C>T (p.Ile986=)
NM_000094.4(COL7A1):c.2964C>T (p.Ser988=)
NM_000094.4(COL7A1):c.2968C>A (p.Arg990=)
NM_000094.4(COL7A1):c.3006C>A (p.Ser1002=)
NM_000094.4(COL7A1):c.3016C>T (p.Leu1006Phe)
NM_000094.4(COL7A1):c.3024G>A (p.Gly1008=)
NM_000094.4(COL7A1):c.3038A>T (p.Gln1013Leu)
NM_000094.4(COL7A1):c.3051G>A (p.Gly1017=)
NM_000094.4(COL7A1):c.3063C>T (p.Gly1021=)
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile)
NM_000094.4(COL7A1):c.3075C>T (p.Ile1025=)
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met)
NM_000094.4(COL7A1):c.3087G>A (p.Thr1029=)
NM_000094.4(COL7A1):c.3090T>G (p.Pro1030=)
NM_000094.4(COL7A1):c.30C>T (p.Leu10=)
NM_000094.4(COL7A1):c.3111T>A (p.Gly1037=)
NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser)
NM_000094.4(COL7A1):c.3136C>A (p.Pro1046Thr)
NM_000094.4(COL7A1):c.3139+7T>C
NM_000094.4(COL7A1):c.3140-10del rs1228248856
NM_000094.4(COL7A1):c.3140-1G>A rs886041187
NM_000094.4(COL7A1):c.3140-4A>G
NM_000094.4(COL7A1):c.3156G>T (p.Leu1052=)
NM_000094.4(COL7A1):c.3168G>A (p.Val1056=)
NM_000094.4(COL7A1):c.3170_3173del (p.Phe1057fs)
NM_000094.4(COL7A1):c.3174A>G (p.Leu1058=)
NM_000094.4(COL7A1):c.3195T>C (p.Asn1065=)
NM_000094.4(COL7A1):c.3203G>A (p.Arg1068His)
NM_000094.4(COL7A1):c.3216G>A (p.Thr1072=)
NM_000094.4(COL7A1):c.3228G>A (p.Leu1076=)
NM_000094.4(COL7A1):c.3237G>A (p.Leu1079=)
NM_000094.4(COL7A1):c.3240G>A (p.Val1080=)
NM_000094.4(COL7A1):c.3264A>G (p.Pro1088=)
NM_000094.4(COL7A1):c.3264A>T (p.Pro1088=)
NM_000094.4(COL7A1):c.3277-8C>T
NM_000094.4(COL7A1):c.3282C>T (p.Gly1094=)
NM_000094.4(COL7A1):c.3310delinsAA (p.Pro1104fs)
NM_000094.4(COL7A1):c.3321A>G (p.Pro1107=)
NM_000094.4(COL7A1):c.3363C>T (p.Ile1121=)
NM_000094.4(COL7A1):c.3369C>T (p.Asp1123=)
NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=)
NM_000094.4(COL7A1):c.3437T>A (p.Leu1146Ter)
NM_000094.4(COL7A1):c.3468C>T (p.His1156=)
NM_000094.4(COL7A1):c.3469G>A (p.Val1157Ile)
NM_000094.4(COL7A1):c.3473del (p.Pro1158fs)
NM_000094.4(COL7A1):c.3477G>A (p.Gly1159=)
NM_000094.4(COL7A1):c.3479T>C (p.Val1160Ala)
NM_000094.4(COL7A1):c.3498T>C (p.Asp1166=)
NM_000094.4(COL7A1):c.3504C>A (p.Pro1168=)
NM_000094.4(COL7A1):c.3513T>C (p.Gly1171=)
NM_000094.4(COL7A1):c.3551-5C>T
NM_000094.4(COL7A1):c.3552G>C (p.Gly1184=)
NM_000094.4(COL7A1):c.3558T>C (p.Asn1186=)
NM_000094.4(COL7A1):c.3561G>A (p.Val1187=)
NM_000094.4(COL7A1):c.3585G>A (p.Ala1195=)
NM_000094.4(COL7A1):c.3597G>A (p.Gln1199=)
NM_000094.4(COL7A1):c.3606C>T (p.Arg1202=)
NM_000094.4(COL7A1):c.3642C>T (p.Phe1214=)
NM_000094.4(COL7A1):c.3645C>T (p.Ala1215=)
NM_000094.4(COL7A1):c.3657G>A (p.Gly1219=)
NM_000094.4(COL7A1):c.366A>G (p.Ala122=)
NM_000094.4(COL7A1):c.3673G>C (p.Ala1225Pro)
NM_000094.4(COL7A1):c.3702T>A (p.Cys1234Ter)
NM_000094.4(COL7A1):c.3724-10A>G
NM_000094.4(COL7A1):c.3724-4G>A
NM_000094.4(COL7A1):c.3724-6C>T
NM_000094.4(COL7A1):c.3727C>T (p.Arg1243Trp)
NM_000094.4(COL7A1):c.3732A>G (p.Pro1244=)
NM_000094.4(COL7A1):c.3735G>A (p.Glu1245=)
NM_000094.4(COL7A1):c.3744A>C (p.Pro1248=)
NM_000094.4(COL7A1):c.3747G>A (p.Val1249=)
NM_000094.4(COL7A1):c.3759+16C>T
NM_000094.4(COL7A1):c.3759+9C>A
NM_000094.4(COL7A1):c.3760-1G>A
NM_000094.4(COL7A1):c.3760-6C>T
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=)
NM_000094.4(COL7A1):c.3783G>A (p.Glu1261=)
NM_000094.4(COL7A1):c.3786+15G>A
NM_000094.4(COL7A1):c.3807G>A (p.Gly1269=)
NM_000094.4(COL7A1):c.3809C>T rs145068043
NM_000094.4(COL7A1):c.3830del (p.Pro1277fs)
NM_000094.4(COL7A1):c.3831+2T>C
NM_000094.4(COL7A1):c.3832-6T>C
NM_000094.4(COL7A1):c.3832-7C>A
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=)
NM_000094.4(COL7A1):c.3840C>T (p.Thr1280=)
NM_000094.4(COL7A1):c.3849C>T (p.Pro1283=)
NM_000094.4(COL7A1):c.3861G>C (p.Gly1287=)
NM_000094.4(COL7A1):c.3861G>T (p.Gly1287=)
NM_000094.4(COL7A1):c.3867T>C (p.Pro1289=)
NM_000094.4(COL7A1):c.3870A>G (p.Gly1290=)
NM_000094.4(COL7A1):c.3895-8C>A
NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His)
NM_000094.4(COL7A1):c.3932G>C (p.Gly1311Ala)
NM_000094.4(COL7A1):c.3936C>T (p.Arg1312=)
NM_000094.4(COL7A1):c.3937G>A (p.Ala1313Thr)
NM_000094.4(COL7A1):c.3939C>G (p.Ala1313=)
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=)
NM_000094.4(COL7A1):c.393C>T (p.Phe131=)
NM_000094.4(COL7A1):c.3951G>A (p.Gly1317=)
NM_000094.4(COL7A1):c.3954C>T (p.Thr1318=)
NM_000094.4(COL7A1):c.3976-6T>C
NM_000094.4(COL7A1):c.3978C>G (p.Gly1326=)
NM_000094.4(COL7A1):c.3984A>C (p.Pro1328=)
NM_000094.4(COL7A1):c.4001G>A (p.Arg1334His)
NM_000094.4(COL7A1):c.4011+8G>A
NM_000094.4(COL7A1):c.4011+9C>G
NM_000094.4(COL7A1):c.4012-9C>T
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter)
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser)
NM_000094.4(COL7A1):c.4032C>G (p.Gly1344=)
NM_000094.4(COL7A1):c.4039G>T (p.Gly1347Trp)
NM_000094.4(COL7A1):c.4046C>T (p.Pro1349Leu)
NM_000094.4(COL7A1):c.4047+10G>T
NM_000094.4(COL7A1):c.4047+7G>A
NM_000094.4(COL7A1):c.4047+8A>C
NM_000094.4(COL7A1):c.4069G>A (p.Gly1357Arg)
NM_000094.4(COL7A1):c.4092T>G (p.Pro1364=)
NM_000094.4(COL7A1):c.4116A>G (p.Pro1372=)
NM_000094.4(COL7A1):c.4119+7G>A
NM_000094.4(COL7A1):c.4119+9A>C
NM_000094.4(COL7A1):c.4119+9A>G
NM_000094.4(COL7A1):c.4120-1G>A
NM_000094.4(COL7A1):c.4120-5A>G
NM_000094.4(COL7A1):c.4120-6C>A
NM_000094.4(COL7A1):c.4122C>G (p.Gly1374=)
NM_000094.4(COL7A1):c.4125C>A (p.Pro1375=)
NM_000094.4(COL7A1):c.4128delT rs1575466699
NM_000094.4(COL7A1):c.414T>C (p.Pro138=)
NM_000094.4(COL7A1):c.4170C>T (p.Pro1390=)
NM_000094.4(COL7A1):c.4176G>C (p.Gly1392=)
NM_000094.4(COL7A1):c.4184del (p.Gly1395fs)
NM_000094.4(COL7A1):c.4198-8T>C
NM_000094.4(COL7A1):c.4210G>A (p.Asp1404Asn)
NM_000094.4(COL7A1):c.4225-7C>T
NM_000094.4(COL7A1):c.4225-9C>G
NM_000094.4(COL7A1):c.4230C>T (p.Pro1410=)
NM_000094.4(COL7A1):c.426+10A>G
NM_000094.4(COL7A1):c.4260T>G (p.Pro1420=)
NM_000094.4(COL7A1):c.4275G>A (p.Leu1425=)
NM_000094.4(COL7A1):c.4278+8G>C
NM_000094.4(COL7A1):c.4278+8del
NM_000094.4(COL7A1):c.4279-4del
NM_000094.4(COL7A1):c.4287C>T rs749814590
NM_000094.4(COL7A1):c.4297G>C (p.Gly1433Arg)
NM_000094.4(COL7A1):c.4305A>G (p.Gln1435=)
NM_000094.4(COL7A1):c.4311C>T (p.Pro1437=)
NM_000094.4(COL7A1):c.4322del (p.Pro1441fs)
NM_000094.4(COL7A1):c.4341+2T>C
NM_000094.4(COL7A1):c.4341+7A>G
NM_000094.4(COL7A1):c.4341+9G>T
NM_000094.4(COL7A1):c.4342-18C>A
NM_000094.4(COL7A1):c.4342-1G>T
NM_000094.4(COL7A1):c.4344T>A (p.Gly1448=)
NM_000094.4(COL7A1):c.4371C>T (p.Leu1457=)
NM_000094.4(COL7A1):c.4389T>C (p.Ser1463=)
NM_000094.4(COL7A1):c.4431C>T (p.Gly1477=)
NM_000094.4(COL7A1):c.4437+1G>C
NM_000094.4(COL7A1):c.4437+2T>G
NM_000094.4(COL7A1):c.4437+7A>G
NM_000094.4(COL7A1):c.4438-12C>G
NM_000094.4(COL7A1):c.4438-8C>T
NM_000094.4(COL7A1):c.4446G>A (p.Arg1482=)
NM_000094.4(COL7A1):c.4449C>T (p.Gly1483=)
NM_000094.4(COL7A1):c.4478del (p.Glu1493fs)
NM_000094.4(COL7A1):c.447C>T (p.Asp149=)
NM_000094.4(COL7A1):c.4482+17G>T
NM_000094.4(COL7A1):c.4482+7G>T
NM_000094.4(COL7A1):c.4483-18dup
NM_000094.4(COL7A1):c.4483-1G>A
NM_000094.4(COL7A1):c.4483-8T>C
NM_000094.4(COL7A1):c.4519-2del
NM_000094.4(COL7A1):c.4519-3C>T
NM_000094.4(COL7A1):c.4530G>A (p.Gly1510=)
NM_000094.4(COL7A1):c.4531_4564-42del
NM_000094.4(COL7A1):c.4564-10C>G
NM_000094.4(COL7A1):c.4564-7C>T
NM_000094.4(COL7A1):c.4564-9T>C
NM_000094.4(COL7A1):c.4588C>T (p.Gln1530Ter)
NM_000094.4(COL7A1):c.4599+10C>T
NM_000094.4(COL7A1):c.4600-10C>G
NM_000094.4(COL7A1):c.4600-10C>T
NM_000094.4(COL7A1):c.4600-8C>T
NM_000094.4(COL7A1):c.4603G>T (p.Glu1535Ter)
NM_000094.4(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883
NM_000094.4(COL7A1):c.4621del (p.Asp1541fs)
NM_000094.4(COL7A1):c.4635+9C>T
NM_000094.4(COL7A1):c.4636-9T>C rs760840151
NM_000094.4(COL7A1):c.465G>C (p.Leu155=)
NM_000094.4(COL7A1):c.4665A>G (p.Glu1555=)
NM_000094.4(COL7A1):c.4668+10G>A
NM_000094.4(COL7A1):c.4683C>A (p.Pro1561=)
NM_000094.4(COL7A1):c.4683C>T (p.Pro1561=)
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
NM_000094.4(COL7A1):c.468G>A (p.Val156=)
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=)
NM_000094.4(COL7A1):c.4713A>G (p.Gln1571=)
NM_000094.4(COL7A1):c.4723-5C>T
NM_000094.4(COL7A1):c.4731C>T (p.Pro1577=)
NM_000094.4(COL7A1):c.474A>C (p.Thr158=)
NM_000094.4(COL7A1):c.4761C>G (p.Pro1587=)
NM_000094.4(COL7A1):c.4782+3G>A
NM_000094.4(COL7A1):c.4782+9A>G
NM_000094.4(COL7A1):c.4783-1G>A
NM_000094.4(COL7A1):c.4783-9C>T
NM_000094.4(COL7A1):c.4818+10C>T
NM_000094.4(COL7A1):c.4818+9C>A
NM_000094.4(COL7A1):c.4857G>A (p.Gly1619=)
NM_000094.4(COL7A1):c.4859G>A (p.Arg1620Gln)
NM_000094.4(COL7A1):c.4866C>T (p.Gly1622=)
NM_000094.4(COL7A1):c.4872A>G (p.Pro1624=)
NM_000094.4(COL7A1):c.4884C>T (p.Gly1628=)
NM_000094.4(COL7A1):c.4900-2A>G
NM_000094.4(COL7A1):c.4900-5C>T
NM_000094.4(COL7A1):c.4900-9G>T
NM_000094.4(COL7A1):c.4917A>G (p.Lys1639=)
NM_000094.4(COL7A1):c.4935+9C>G
NM_000094.4(COL7A1):c.4936-1G>A
NM_000094.4(COL7A1):c.4936-4C>A
NM_000094.4(COL7A1):c.4941C>T (p.Asp1647=)
NM_000094.4(COL7A1):c.4965C>A (p.Gly1655=)
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.4981-4T>C
NM_000094.4(COL7A1):c.5001G>A (p.Gly1667=)
NM_000094.4(COL7A1):c.5047C>T rs760063197
NM_000094.4(COL7A1):c.5052+1G>A
NM_000094.4(COL7A1):c.5096C>T rs121912845
NM_000094.4(COL7A1):c.5103C>T (p.Pro1701=)
NM_000094.4(COL7A1):c.510A>G (p.Leu170=)
NM_000094.4(COL7A1):c.5115G>A (p.Pro1705=)
NM_000094.4(COL7A1):c.5121G>C (p.Arg1707=)
NM_000094.4(COL7A1):c.5124+10G>A
NM_000094.4(COL7A1):c.5124+7G>A
NM_000094.4(COL7A1):c.5125-10C>T
NM_000094.4(COL7A1):c.5125-2A>T
NM_000094.4(COL7A1):c.5125-4A>G
NM_000094.4(COL7A1):c.5125-5C>A
NM_000094.4(COL7A1):c.5125-5C>G
NM_000094.4(COL7A1):c.5125-5C>T
NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs)
NM_000094.4(COL7A1):c.5160G>A (p.Glu1720=)
NM_000094.4(COL7A1):c.516T>C (p.Ala172=)
NM_000094.4(COL7A1):c.5187T>C (p.Pro1729=)
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter)
NM_000094.4(COL7A1):c.520+10G>A
NM_000094.4(COL7A1):c.520+1G>C
NM_000094.4(COL7A1):c.520+8C>T
NM_000094.4(COL7A1):c.521-10G>A
NM_000094.4(COL7A1):c.521-10G>C
NM_000094.4(COL7A1):c.5211C>T (p.Gly1737=)
NM_000094.4(COL7A1):c.5236-8A>C
NM_000094.4(COL7A1):c.5256A>T (p.Gly1752=)
NM_000094.4(COL7A1):c.5271+9T>G
NM_000094.4(COL7A1):c.5272-5T>C
NM_000094.4(COL7A1):c.5307+7G>A
NM_000094.4(COL7A1):c.534T>G (p.Ala178=)
NM_000094.4(COL7A1):c.5367C>T (p.Ala1789=)
NM_000094.4(COL7A1):c.537C>T (p.Asp179=)
NM_000094.4(COL7A1):c.5382G>A (p.Gly1794=)
NM_000094.4(COL7A1):c.5385G>A (p.Pro1795=)
NM_000094.4(COL7A1):c.5388+9T>C
NM_000094.4(COL7A1):c.5425-6_5425-5delTT rs762085901
NM_000094.4(COL7A1):c.5433A>G (p.Pro1811=)
NM_000094.4(COL7A1):c.5439C>T (p.Leu1813=)
NM_000094.4(COL7A1):c.5459C>G rs143037856
NM_000094.4(COL7A1):c.5475C>T (p.Pro1825=)
NM_000094.4(COL7A1):c.5488-10G>T
NM_000094.4(COL7A1):c.5488-8T>C
NM_000094.4(COL7A1):c.5496A>G (p.Pro1832=)
NM_000094.4(COL7A1):c.5499C>T rs758886532
NM_000094.4(COL7A1):c.5531dup (p.Asn1844fs)
NM_000094.4(COL7A1):c.5532+7_5532+10del
NM_000094.4(COL7A1):c.553C>T rs886041186
NM_000094.4(COL7A1):c.5559C>T (p.Asp1853=)
NM_000094.4(COL7A1):c.5562G>C (p.Gly1854=)
NM_000094.4(COL7A1):c.5568+10C>T
NM_000094.4(COL7A1):c.5568+15C>G
NM_000094.4(COL7A1):c.5568+8C>T
NM_000094.4(COL7A1):c.5569-5C>T
NM_000094.4(COL7A1):c.5577A>G (p.Lys1859=)
NM_000094.4(COL7A1):c.5598G>C (p.Gly1866=)
NM_000094.4(COL7A1):c.5604+7A>G
NM_000094.4(COL7A1):c.5608C>T (p.Arg1870Cys)
NM_000094.4(COL7A1):c.5616C>A (p.Gly1872=)
NM_000094.4(COL7A1):c.5656C>T (p.Gln1886Ter)
NM_000094.4(COL7A1):c.565C>T (p.Gln189Ter)
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=)
NM_000094.4(COL7A1):c.5691T>G (p.Pro1897=)
NM_000094.4(COL7A1):c.5700+10C>T
NM_000094.4(COL7A1):c.5701-10C>T
NM_000094.4(COL7A1):c.5701-9G>A
NM_000094.4(COL7A1):c.5715C>A (p.Val1905=)
NM_000094.4(COL7A1):c.5727G>A (p.Thr1909=)
NM_000094.4(COL7A1):c.5736+17_5736+18delinsAA
NM_000094.4(COL7A1):c.5736+9G>A rs777097228
NM_000094.4(COL7A1):c.5737-17G>T
NM_000094.4(COL7A1):c.5772+7C>T
NM_000094.4(COL7A1):c.5772+9C>G
NM_000094.4(COL7A1):c.5773-7T>C
NM_000094.4(COL7A1):c.5797C>A (p.Arg1933=)
NM_000094.4(COL7A1):c.580TTC[5] (p.Phe197dup)
NM_000094.4(COL7A1):c.5820+1G>C
NM_000094.4(COL7A1):c.5820+7del
NM_000094.4(COL7A1):c.5820G>A rs200972872
NM_000094.4(COL7A1):c.5821-5C>T
NM_000094.4(COL7A1):c.5826G>C (p.Val1942=)
NM_000094.4(COL7A1):c.5836C>T (p.Leu1946=)
NM_000094.4(COL7A1):c.5877C>A (p.Ile1959=)
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=)
NM_000094.4(COL7A1):c.5911C>T (p.Leu1971=)
NM_000094.4(COL7A1):c.5913G>T rs754578634
NM_000094.4(COL7A1):c.591C>T (p.Phe197=)
NM_000094.4(COL7A1):c.5922C>T (p.Pro1974=)
NM_000094.4(COL7A1):c.592G>A (p.Val198Ile)
NM_000094.4(COL7A1):c.5932C>T rs1368134215
NM_000094.4(COL7A1):c.5955C>A (p.Gly1985=)
NM_000094.4(COL7A1):c.5956G>A (p.Glu1986Lys)
NM_000094.4(COL7A1):c.5970A>C (p.Pro1990=)
NM_000094.4(COL7A1):c.5973C>A (p.Gly1991=)
NM_000094.4(COL7A1):c.5979+8G>A
NM_000094.4(COL7A1):c.597T>C (p.Asn199=)
NM_000094.4(COL7A1):c.5980-4G>A
NM_000094.4(COL7A1):c.5980-7C>T
NM_000094.4(COL7A1):c.5994T>C (p.Phe1998=)
NM_000094.4(COL7A1):c.5997T>C (p.Pro1999=)
NM_000094.4(COL7A1):c.6014_6021delinsGGG (p.Lys2005fs)
NM_000094.4(COL7A1):c.6018C>A (p.Gly2006=)
NM_000094.4(COL7A1):c.6022C>G (p.Arg2008Gly)
NM_000094.4(COL7A1):c.6022C>T rs1055680335
NM_000094.4(COL7A1):c.6041del (p.Gln2014fs) rs1575439903
NM_000094.4(COL7A1):c.6044G>T (p.Gly2015Val)
NM_000094.4(COL7A1):c.6057G>C (p.Leu2019=)
NM_000094.4(COL7A1):c.6075C>G (p.Gly2025=)
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=)
NM_000094.4(COL7A1):c.6078C>A (p.Pro2026=)
NM_000094.4(COL7A1):c.6081C>G (p.Pro2027=)
NM_000094.4(COL7A1):c.6081dup (p.Gly2028fs) rs780623622
NM_000094.4(COL7A1):c.6082G>A rs762162799
NM_000094.4(COL7A1):c.6084G>C (p.Gly2028=)
NM_000094.4(COL7A1):c.6099C>T (p.Ala2033=)
NM_000094.4(COL7A1):c.6100G>A rs121912844
NM_000094.4(COL7A1):c.6126C>T (p.Pro2042=)
NM_000094.4(COL7A1):c.6127G>A rs121912836
NM_000094.4(COL7A1):c.6171A>C (p.Pro2057=)
NM_000094.4(COL7A1):c.6171A>G (p.Pro2057=)
NM_000094.4(COL7A1):c.6181-10T>C
NM_000094.4(COL7A1):c.6181-9G>A
NM_000094.4(COL7A1):c.6186A>G (p.Glu2062=)
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.6207T>C (p.Arg2069=)
NM_000094.4(COL7A1):c.6216+10G>A
NM_000094.4(COL7A1):c.6216+10G>T
NM_000094.4(COL7A1):c.6216+1G>A
NM_000094.4(COL7A1):c.6217-2del
NM_000094.4(COL7A1):c.6234T>C (p.Pro2078=)
NM_000094.4(COL7A1):c.6245del (p.Gly2082fs)
NM_000094.4(COL7A1):c.6261C>T (p.Pro2087=)
NM_000094.4(COL7A1):c.6265C>A (p.Pro2089Thr)
NM_000094.4(COL7A1):c.6267C>A (p.Pro2089=)
NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=)
NM_000094.4(COL7A1):c.6273C>T (p.Gly2091=)
NM_000094.4(COL7A1):c.6279+10C>T
NM_000094.4(COL7A1):c.6279+6C>T
NM_000094.4(COL7A1):c.627C>A (p.Pro209=)
NM_000094.4(COL7A1):c.6312T>G (p.Ser2104=)
NM_000094.4(COL7A1):c.631G>A (p.Val211Ile)
NM_000094.4(COL7A1):c.6327C>T (p.Pro2109=)
NM_000094.4(COL7A1):c.6343del (p.Ala2115fs)
NM_000094.4(COL7A1):c.6348+7G>A
NM_000094.4(COL7A1):c.6348+7G>T
NM_000094.4(COL7A1):c.6351delinsAT (p.Gly2117_Glu2118insTer) rs1575437481
NM_000094.4(COL7A1):c.636C>T (p.Ser212=)
NM_000094.4(COL7A1):c.6375A>G (p.Gln2125=)
NM_000094.4(COL7A1):c.6394-1G>C
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala)
NM_000094.4(COL7A1):c.639del (p.Arg214fs)
NM_000094.4(COL7A1):c.6400C>T (p.Pro2134Ser)
NM_000094.4(COL7A1):c.6432A>G (p.Gly2144=)
NM_000094.4(COL7A1):c.6435G>A (p.Pro2145=)
NM_000094.4(COL7A1):c.6441T>G (p.Gly2147=)
NM_000094.4(COL7A1):c.6447C>T (p.Asp2149=)
NM_000094.4(COL7A1):c.6456+1G>C
NM_000094.4(COL7A1):c.6456G>A (p.Pro2152=)
NM_000094.4(COL7A1):c.6457-18T>C
NM_000094.4(COL7A1):c.6457-8C>T
NM_000094.4(COL7A1):c.6462A>G (p.Leu2154=)
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
NM_000094.4(COL7A1):c.6497A>G (p.Lys2166Arg)
NM_000094.4(COL7A1):c.6501+1G>C
NM_000094.4(COL7A1):c.6501G>A rs767539005
NM_000094.4(COL7A1):c.6502-2A>G
NM_000094.4(COL7A1):c.6507G>C (p.Leu2169=)
NM_000094.4(COL7A1):c.6508C>T (p.Gln2170Ter)
NM_000094.4(COL7A1):c.651G>A (p.Thr217=)
NM_000094.4(COL7A1):c.6522C>A (p.Gly2174=)
NM_000094.4(COL7A1):c.6527dupC rs768128088
NM_000094.4(COL7A1):c.6528del (p.Gly2177fs)
NM_000094.4(COL7A1):c.6537+10C>T
NM_000094.4(COL7A1):c.6537+7A>T
NM_000094.4(COL7A1):c.6538-10G>C
NM_000094.4(COL7A1):c.6538-2A>C
NM_000094.4(COL7A1):c.6538-5A>C
NM_000094.4(COL7A1):c.6538-5A>G
NM_000094.4(COL7A1):c.653C>T (p.Thr218Ile)
NM_000094.4(COL7A1):c.6546T>C (p.His2182=)
NM_000094.4(COL7A1):c.6574-4C>G
NM_000094.4(COL7A1):c.6582T>G (p.Ala2194=)
NM_000094.4(COL7A1):c.6588T>C (p.Pro2196=)
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu)
NM_000094.4(COL7A1):c.6606T>C (p.Pro2202=)
NM_000094.4(COL7A1):c.6630A>G (p.Gly2210=)
NM_000094.4(COL7A1):c.6651+11T>G
NM_000094.4(COL7A1):c.6652-4C>T
NM_000094.4(COL7A1):c.6684T>C (p.Leu2228=)
NM_000094.4(COL7A1):c.6696dup (p.Gly2233fs)
NM_000094.4(COL7A1):c.6715-18C>T
NM_000094.4(COL7A1):c.6715-5G>A
NM_000094.4(COL7A1):c.6744A>G (p.Gly2248=)
NM_000094.4(COL7A1):c.6745C>T (p.Gln2249Ter)
NM_000094.4(COL7A1):c.6751-9C>T
NM_000094.4(COL7A1):c.6759A>G (p.Thr2253=)
NM_000094.4(COL7A1):c.6768G>A (p.Pro2256=)
NM_000094.4(COL7A1):c.6781C>T rs772381373
NM_000094.4(COL7A1):c.682+10T>C
NM_000094.4(COL7A1):c.683-10G>A
NM_000094.4(COL7A1):c.683-10G>T
NM_000094.4(COL7A1):c.683-1G>A
NM_000094.4(COL7A1):c.684G>T (p.Pro228=)
NM_000094.4(COL7A1):c.6859G>A rs121912839
NM_000094.4(COL7A1):c.6861A>T (p.Gly2287=)
NM_000094.4(COL7A1):c.6882C>T (p.Pro2294=)
NM_000094.4(COL7A1):c.6901-4A>G
NM_000094.4(COL7A1):c.6909C>T (p.Val2303=)
NM_000094.4(COL7A1):c.6918T>G (p.Pro2306=)
NM_000094.4(COL7A1):c.6937-10C>A
NM_000094.4(COL7A1):c.6937-12_6937-11dup
NM_000094.4(COL7A1):c.6937-12dup
NM_000094.4(COL7A1):c.693G>A (p.Ser231=)
NM_000094.4(COL7A1):c.693G>C (p.Ser231=)
NM_000094.4(COL7A1):c.6951C>T (p.Gly2317=)
NM_000094.4(COL7A1):c.6966G>T (p.Leu2322=)
NM_000094.4(COL7A1):c.6972T>C (p.Gly2324=)
NM_000094.4(COL7A1):c.6979-9dup
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter)
NM_000094.4(COL7A1):c.7002G>A (p.Leu2334=)
NM_000094.4(COL7A1):c.7011G>A (p.Pro2337=)
NM_000094.4(COL7A1):c.7011G>T (p.Pro2337=)
NM_000094.4(COL7A1):c.7023+1G>A
NM_000094.4(COL7A1):c.7024-9T>C
NM_000094.4(COL7A1):c.7047G>A (p.Glu2349=)
NM_000094.4(COL7A1):c.7050C>T (p.Pro2350=)
NM_000094.4(COL7A1):c.705A>G (p.Pro235=)
NM_000094.4(COL7A1):c.7068+2T>C
NM_000094.4(COL7A1):c.7068+2_7068+3del
NM_000094.4(COL7A1):c.7068+8C>T
NM_000094.4(COL7A1):c.7069-10G>T
NM_000094.4(COL7A1):c.706C>T rs121912854
NM_000094.4(COL7A1):c.7105-8C>T
NM_000094.4(COL7A1):c.7110C>T (p.Asp2370=)
NM_000094.4(COL7A1):c.7122G>A (p.Gly2374=)
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)
NM_000094.4(COL7A1):c.7125C>T (p.Val2375=)
NM_000094.4(COL7A1):c.7191C>T rs34360255
NM_000094.4(COL7A1):c.720G>A (p.Leu240=)
NM_000094.4(COL7A1):c.7212G>A (p.Gly2404=)
NM_000094.4(COL7A1):c.7215C>T (p.Phe2405=)
NM_000094.4(COL7A1):c.7254A>G (p.Pro2418=)
NM_000094.4(COL7A1):c.7272+7_7272+13del
NM_000094.4(COL7A1):c.7272+8G>A
NM_000094.4(COL7A1):c.7273-6T>C
NM_000094.4(COL7A1):c.7275T>A (p.Gly2425=)
NM_000094.4(COL7A1):c.7289dup (p.Gly2431fs)
NM_000094.4(COL7A1):c.7320G>A (p.Gly2440=)
NM_000094.4(COL7A1):c.7332A>G (p.Pro2444=)
NM_000094.4(COL7A1):c.7338G>T (p.Gly2446=)
NM_000094.4(COL7A1):c.7344+1G>C
NM_000094.4(COL7A1):c.7344+1G>T
NM_000094.4(COL7A1):c.7345-5T>C
NM_000094.4(COL7A1):c.7349del (p.Pro2450fs) rs1575425011
NM_000094.4(COL7A1):c.7362T>C (p.Ser2454=)
NM_000094.4(COL7A1):c.7381-5T>C
NM_000094.4(COL7A1):c.7391G>A (p.Gly2464Glu)
NM_000094.4(COL7A1):c.7417G>A rs199819125
NM_000094.4(COL7A1):c.7437_7440+4del
NM_000094.4(COL7A1):c.7440+7A>T
NM_000094.4(COL7A1):c.7441-7C>T
NM_000094.4(COL7A1):c.7452C>A (p.Gly2484=)
NM_000094.4(COL7A1):c.7458C>T (p.Pro2486=)
NM_000094.4(COL7A1):c.7473C>G (p.Pro2491=)
NM_000094.4(COL7A1):c.7482C>T (p.Leu2494=)
NM_000094.4(COL7A1):c.7485+9C>T
NM_000094.4(COL7A1):c.7486-4A>T
NM_000094.4(COL7A1):c.7486-9C>T
NM_000094.4(COL7A1):c.7488G>A (p.Gly2496=)
NM_000094.4(COL7A1):c.7491C>G (p.Pro2497=)
NM_000094.4(COL7A1):c.7521+8C>T
NM_000094.4(COL7A1):c.7521+9G>A
NM_000094.4(COL7A1):c.7522-5A>G
NM_000094.4(COL7A1):c.7543C>T (p.Leu2515=)
NM_000094.4(COL7A1):c.7548G>A (p.Lys2516=)
NM_000094.4(COL7A1):c.7554C>T (p.Asp2518=)
NM_000094.4(COL7A1):c.7558-7C>T
NM_000094.4(COL7A1):c.7558-8C>T
NM_000094.4(COL7A1):c.7590C>T (p.Gly2530=)
NM_000094.4(COL7A1):c.7605G>A (p.Lys2535=)
NM_000094.4(COL7A1):c.7614+9G>A
NM_000094.4(COL7A1):c.7615-2A>T
NM_000094.4(COL7A1):c.7615-4C>A
NM_000094.4(COL7A1):c.7615-6A>C
NM_000094.4(COL7A1):c.762G>A (p.Ala254=)
NM_000094.4(COL7A1):c.7656T>G (p.Pro2552=)
NM_000094.4(COL7A1):c.7662A>G (p.Gly2554=)
NM_000094.4(COL7A1):c.7686+9A>G
NM_000094.4(COL7A1):c.7689C>A (p.Gly2563=)
NM_000094.4(COL7A1):c.7695G>A (p.Lys2565=)
NM_000094.4(COL7A1):c.7746C>A (p.Leu2582=)
NM_000094.4(COL7A1):c.7746C>T (p.Leu2582=)
NM_000094.4(COL7A1):c.7758+10_7758+11delinsAT
NM_000094.4(COL7A1):c.7758+9T>C
NM_000094.4(COL7A1):c.7759-5C>T
NM_000094.4(COL7A1):c.7759-7C>T
NM_000094.4(COL7A1):c.7764A>G (p.Gln2588=)
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu)
NM_000094.4(COL7A1):c.7794+10C>A
NM_000094.4(COL7A1):c.7795-5G>A
NM_000094.4(COL7A1):c.7802del (p.Pro2601fs)
NM_000094.4(COL7A1):c.7825A>G (p.Ile2609Val)
NM_000094.4(COL7A1):c.7829G>A (p.Arg2610Gln)
NM_000094.4(COL7A1):c.7864C>T rs139318843
NM_000094.4(COL7A1):c.7876-9C>T
NM_000094.4(COL7A1):c.7878T>C (p.Gly2626=)
NM_000094.4(COL7A1):c.7890G>T (p.Val2630=)
NM_000094.4(COL7A1):c.7917G>A (p.Glu2639=)
NM_000094.4(COL7A1):c.7920G>A (p.Lys2640=)
NM_000094.4(COL7A1):c.7930-19C>G
NM_000094.4(COL7A1):c.7944C>T (p.Pro2648=)
NM_000094.4(COL7A1):c.7953C>A (p.Arg2651=)
NM_000094.4(COL7A1):c.7962G>T (p.Leu2654=)
NM_000094.4(COL7A1):c.7974A>G (p.Lys2658=)
NM_000094.4(COL7A1):c.7983+10G>A
NM_000094.4(COL7A1):c.7983+8_7983+9del
NM_000094.4(COL7A1):c.7984-13dup
NM_000094.4(COL7A1):c.7984-7T>C
NM_000094.4(COL7A1):c.798C>T (p.Tyr266=)
NM_000094.4(COL7A1):c.8000C>T (p.Pro2667Leu)
NM_000094.4(COL7A1):c.8007G>A (p.Gln2669=)
NM_000094.4(COL7A1):c.8007G>C (p.Gln2669His)
NM_000094.4(COL7A1):c.8010G>A (p.Ser2670=)
NM_000094.4(COL7A1):c.8010G>T (p.Ser2670=)
NM_000094.4(COL7A1):c.8013G>A (p.Gly2671=)
NM_000094.4(COL7A1):c.8016C>A (p.Ala2672=)
NM_000094.4(COL7A1):c.8020G>C (p.Gly2674Arg)
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.8058C>T (p.Gly2686=)
NM_000094.4(COL7A1):c.805C>T (p.Leu269=)
NM_000094.4(COL7A1):c.8067G>A (p.Gly2689=)
NM_000094.4(COL7A1):c.8076C>A (p.Gly2692=)
NM_000094.4(COL7A1):c.8079C>T (p.Pro2693=)
NM_000094.4(COL7A1):c.8088C>T (p.Asp2696=)
NM_000094.4(COL7A1):c.8110-10A>G
NM_000094.4(COL7A1):c.8157C>T (p.Gly2719=)
NM_000094.4(COL7A1):c.8169C>T (p.Pro2723=)
NM_000094.4(COL7A1):c.8177C>T (p.Pro2726Leu)
NM_000094.4(COL7A1):c.8193T>C (p.Gly2731=)
NM_000094.4(COL7A1):c.8212_8224del (p.Leu2738fs)
NM_000094.4(COL7A1):c.8226+8G>A
NM_000094.4(COL7A1):c.8226+8G>C
NM_000094.4(COL7A1):c.8227-1G>C
NM_000094.4(COL7A1):c.8227-9G>A
NM_000094.4(COL7A1):c.8233C>T (p.Arg2745Ter)
NM_000094.4(COL7A1):c.8244C>G (p.Pro2748=)
NM_000094.4(COL7A1):c.8244dup (p.Gly2749fs)
NM_000094.4(COL7A1):c.8247A>G (p.Gly2749=)
NM_000094.4(COL7A1):c.8253_8254dup (p.Val2752fs)
NM_000094.4(COL7A1):c.8263del (p.Ala2755fs)
NM_000094.4(COL7A1):c.8305G>C (p.Gly2769Arg)
NM_000094.4(COL7A1):c.831G>A (p.Pro277=)
NM_000094.4(COL7A1):c.831G>C (p.Pro277=)
NM_000094.4(COL7A1):c.8323G>A (p.Gly2775Ser)
NM_000094.4(COL7A1):c.8331A>G (p.Arg2777=)
NM_000094.4(COL7A1):c.8349T>C (p.Ala2783=)
NM_000094.4(COL7A1):c.8355G>A (p.Leu2785=)
NM_000094.4(COL7A1):c.8359-19T>C
NM_000094.4(COL7A1):c.8371del (p.Arg2791fs)
NM_000094.4(COL7A1):c.8407+7G>A
NM_000094.4(COL7A1):c.8408-6C>A
NM_000094.4(COL7A1):c.8408-7_8419del
NM_000094.4(COL7A1):c.8418C>A (p.Gly2806=)
NM_000094.4(COL7A1):c.8427C>T (p.Ile2809=)
NM_000094.4(COL7A1):c.8440+1G>A
NM_000094.4(COL7A1):c.8440+7A>C
NM_000094.4(COL7A1):c.8451T>G (p.Pro2817=)
NM_000094.4(COL7A1):c.8457T>G (p.Tyr2819Ter)
NM_000094.4(COL7A1):c.846+2T>C
NM_000094.4(COL7A1):c.847-8C>T
NM_000094.4(COL7A1):c.8475C>T (p.Gly2825=)
NM_000094.4(COL7A1):c.8484C>G (p.Leu2828=)
NM_000094.4(COL7A1):c.85+10G>T
NM_000094.4(COL7A1):c.85+8C>A
NM_000094.4(COL7A1):c.85+8C>T
NM_000094.4(COL7A1):c.8502C>G (p.Leu2834=)
NM_000094.4(COL7A1):c.8505C>A (p.Arg2835=)
NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=)
NM_000094.4(COL7A1):c.8527+8C>G
NM_000094.4(COL7A1):c.8538C>T (p.Pro2846=)
NM_000094.4(COL7A1):c.8539C>G (p.Pro2847Ala)
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser)
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile)
NM_000094.4(COL7A1):c.8540C>G (p.Pro2847Arg)
NM_000094.4(COL7A1):c.8540_8541del (p.Pro2847fs)
NM_000094.4(COL7A1):c.8558_8568del (p.Tyr2852_Ser2853insTer)
NM_000094.4(COL7A1):c.8584G>T (p.Glu2862Ter)
NM_000094.4(COL7A1):c.8589C>T (p.Tyr2863=)
NM_000094.4(COL7A1):c.86-4C>G
NM_000094.4(COL7A1):c.86-5C>T
NM_000094.4(COL7A1):c.86-9C>T
NM_000094.4(COL7A1):c.8635C>T (p.Pro2879Ser)
NM_000094.4(COL7A1):c.8661C>T (p.Ala2887=)
NM_000094.4(COL7A1):c.8664C>T (p.Tyr2888=)
NM_000094.4(COL7A1):c.8679C>G (p.Tyr2893Ter)
NM_000094.4(COL7A1):c.8709C>G (p.Ala2903=)
NM_000094.4(COL7A1):c.8709C>T (p.Ala2903=)
NM_000094.4(COL7A1):c.8760G>A (p.Gly2920=)
NM_000094.4(COL7A1):c.876G>A (p.Val292=)
NM_000094.4(COL7A1):c.87G>T (p.Val29=)
NM_000094.4(COL7A1):c.8818+10G>T
NM_000094.4(COL7A1):c.8819-3C>T rs148536949
NM_000094.4(COL7A1):c.887delG rs1131691385
NM_000094.4(COL7A1):c.888T>C (p.Gly296=)
NM_000094.4(COL7A1):c.909C>T (p.Tyr303=)
NM_000094.4(COL7A1):c.921G>C (p.Val307=)
NM_000094.4(COL7A1):c.927C>T (p.Ala309=)
NM_000094.4(COL7A1):c.948G>A (p.Gly316=)
NM_000094.4(COL7A1):c.96G>A (p.Thr32=)
NM_000094.4(COL7A1):c.972G>T (p.Arg324=)
NM_000094.4(COL7A1):c.977-7C>T
NM_000094.4(COL7A1):c.977-8dup
NM_000094.4(COL7A1):c.99C>A (p.Arg33=)

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