NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
NM_000094.4(COL7A1):c.1613G>A (p.Arg538His)
|
rs138791004
|
0.00138
|
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu)
|
rs140114392
|
0.00113
|
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)
|
rs142566193
|
0.00109
|
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu)
|
rs149267939
|
0.00098
|
NM_000094.4(COL7A1):c.8530C>T (p.Arg2844Trp)
|
rs138002006
|
0.00089
|
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys)
|
rs147633212
|
0.00050
|
NM_000094.4(COL7A1):c.4636G>C (p.Gly1546Arg)
|
rs73831831
|
0.00045
|
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys)
|
rs139434755
|
0.00026
|
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)
|
rs142059751
|
0.00026
|
NM_000094.4(COL7A1):c.4636-3C>T
|
rs200981821
|
0.00024
|
NM_000094.4(COL7A1):c.8240C>T (p.Pro2747Leu)
|
rs139566877
|
0.00023
|
NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His)
|
rs150903058
|
0.00021
|
NM_000094.4(COL7A1):c.923T>C (p.Ile308Thr)
|
rs145738101
|
0.00021
|
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)
|
rs145068043
|
0.00020
|
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr)
|
rs149342284
|
0.00019
|
NM_000094.4(COL7A1):c.2146A>G (p.Arg716Gly)
|
rs143040168
|
0.00018
|
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)
|
rs2229820
|
0.00016
|
NM_000094.4(COL7A1):c.7510C>T (p.Arg2504Cys)
|
rs201897441
|
0.00014
|
NM_000094.4(COL7A1):c.8359-17T>A
|
rs200207978
|
0.00013
|
NM_000094.4(COL7A1):c.4780C>T (p.Arg1594Trp)
|
rs267599859
|
0.00012
|
NM_000094.4(COL7A1):c.3232C>T (p.Arg1078Cys)
|
rs149154108
|
0.00011
|
NM_000094.4(COL7A1):c.4859G>A (p.Arg1620Gln)
|
rs373682717
|
0.00011
|
NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg)
|
rs143037856
|
0.00008
|
NM_000094.4(COL7A1):c.7037G>A (p.Arg2346His)
|
rs201432371
|
0.00008
|
NM_000094.4(COL7A1):c.128T>C (p.Leu43Pro)
|
rs149317921
|
0.00006
|
NM_000094.4(COL7A1):c.1325G>A (p.Arg442His)
|
rs146415546
|
0.00006
|
NM_000094.4(COL7A1):c.2666C>T (p.Pro889Leu)
|
rs146783561
|
0.00006
|
NM_000094.4(COL7A1):c.3566T>C (p.Met1189Thr)
|
rs371470848
|
0.00006
|
NM_000094.4(COL7A1):c.4720C>T (p.Arg1574Trp)
|
rs773815805
|
0.00006
|
NM_000094.4(COL7A1):c.6021C>A (p.Asp2007Glu)
|
rs199603961
|
0.00006
|
NM_000094.4(COL7A1):c.7036C>T (p.Arg2346Cys)
|
rs145729761
|
0.00006
|
NM_000094.4(COL7A1):c.314G>A (p.Arg105His)
|
rs370534336
|
0.00005
|
NM_000094.4(COL7A1):c.5092G>A (p.Glu1698Lys)
|
rs2044652657
|
0.00005
|
NM_000094.4(COL7A1):c.5339G>A (p.Arg1780Gln)
|
rs765367177
|
0.00005
|
NM_000094.4(COL7A1):c.5465C>T (p.Pro1822Leu)
|
rs781197075
|
0.00005
|
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His)
|
rs768326843
|
0.00005
|
NM_000094.4(COL7A1):c.7794G>A (p.Pro2598=)
|
rs377067446
|
0.00005
|
NM_000094.4(COL7A1):c.8803C>T (p.Gln2935Ter)
|
rs767051948
|
0.00005
|
NM_000094.4(COL7A1):c.1777C>T (p.Arg593Trp)
|
rs202239292
|
0.00004
|
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser)
|
rs200290149
|
0.00004
|
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln)
|
rs570707807
|
0.00004
|
NM_000094.4(COL7A1):c.4561G>C (p.Glu1521Gln)
|
rs373745858
|
0.00004
|
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
|
rs138626345
|
0.00004
|
NM_000094.4(COL7A1):c.7048C>T (p.Pro2350Ser)
|
rs749870307
|
0.00004
|
NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys)
|
rs779942952
|
0.00004
|
NM_000094.4(COL7A1):c.8401C>T (p.His2801Tyr)
|
rs375653257
|
0.00004
|
NM_000094.4(COL7A1):c.1202G>T (p.Arg401Leu)
|
rs757929353
|
0.00003
|
NM_000094.4(COL7A1):c.1624C>T (p.Arg542Cys)
|
rs780602305
|
0.00003
|
NM_000094.4(COL7A1):c.1970C>G (p.Pro657Arg)
|
rs369972686
|
0.00003
|
NM_000094.4(COL7A1):c.2045G>A (p.Arg682Gln)
|
rs772900092
|
0.00003
|
NM_000094.4(COL7A1):c.2887C>T (p.Arg963Cys)
|
rs773083989
|
0.00003
|
NM_000094.4(COL7A1):c.3841G>A (p.Gly1281Ser)
|
rs569641113
|
0.00003
|
NM_000094.4(COL7A1):c.4329G>T (p.Lys1443Asn)
|
rs752495777
|
0.00003
|
NM_000094.4(COL7A1):c.4996C>T (p.Arg1666Trp)
|
rs764442838
|
0.00003
|
NM_000094.4(COL7A1):c.6293A>C (p.Glu2098Ala)
|
rs886058635
|
0.00003
|
NM_000094.4(COL7A1):c.7939G>A (p.Gly2647Ser)
|
rs749788045
|
0.00003
|
NM_000094.4(COL7A1):c.8054G>C (p.Arg2685Pro)
|
rs886058630
|
0.00003
|
NM_000094.4(COL7A1):c.8783G>A (p.Arg2928His)
|
rs758740269
|
0.00003
|
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His)
|
rs147040026
|
0.00002
|
NM_000094.4(COL7A1):c.2169C>T (p.His723=)
|
rs147643230
|
0.00002
|
NM_000094.4(COL7A1):c.2596G>T (p.Ala866Ser)
|
rs779814851
|
0.00002
|
NM_000094.4(COL7A1):c.2645C>T (p.Ser882Leu)
|
rs372767169
|
0.00002
|
NM_000094.4(COL7A1):c.2710G>T (p.Gly904Cys)
|
rs781144604
|
0.00002
|
NM_000094.4(COL7A1):c.3152G>A (p.Gly1051Asp)
|
rs373817004
|
0.00002
|
NM_000094.4(COL7A1):c.3602G>A (p.Arg1201His)
|
rs189206728
|
0.00002
|
NM_000094.4(COL7A1):c.4228C>T (p.Pro1410Ser)
|
rs778098950
|
0.00002
|
NM_000094.4(COL7A1):c.4605G>C (p.Glu1535Asp)
|
rs1285793084
|
0.00002
|
NM_000094.4(COL7A1):c.4934C>T (p.Pro1645Leu)
|
rs764468586
|
0.00002
|
NM_000094.4(COL7A1):c.5087G>A (p.Arg1696His)
|
rs749128852
|
0.00002
|
NM_000094.4(COL7A1):c.5350G>C (p.Asp1784His)
|
rs200632851
|
0.00002
|
NM_000094.4(COL7A1):c.611T>C (p.Leu204Ser)
|
rs745939385
|
0.00002
|
NM_000094.4(COL7A1):c.6714+3G>A
|
rs1446545673
|
0.00002
|
NM_000094.4(COL7A1):c.8187T>G (p.Ser2729Arg)
|
rs528281412
|
0.00002
|
NM_000094.4(COL7A1):c.1213C>G (p.Pro405Ala)
|
rs757132559
|
0.00001
|
NM_000094.4(COL7A1):c.1346G>A (p.Arg449Gln)
|
rs764504901
|
0.00001
|
NM_000094.4(COL7A1):c.1529C>T (p.Pro510Leu)
|
rs200313202
|
0.00001
|
NM_000094.4(COL7A1):c.1631C>G (p.Thr544Ser)
|
rs763775614
|
0.00001
|
NM_000094.4(COL7A1):c.1717G>C (p.Val573Leu)
|
rs1286113919
|
0.00001
|
NM_000094.4(COL7A1):c.1735G>C (p.Val579Leu)
|
rs1311575300
|
0.00001
|
NM_000094.4(COL7A1):c.1841T>C (p.Val614Ala)
|
rs1361271599
|
0.00001
|
NM_000094.4(COL7A1):c.1997C>T (p.Ser666Leu)
|
rs748075413
|
0.00001
|
NM_000094.4(COL7A1):c.2125G>T (p.Val709Phe)
|
rs758686564
|
0.00001
|
NM_000094.4(COL7A1):c.2377C>T (p.Arg793Trp)
|
rs778104401
|
0.00001
|
NM_000094.4(COL7A1):c.2384C>T (p.Thr795Ile)
|
rs1338660252
|
0.00001
|
NM_000094.4(COL7A1):c.2446C>G (p.Pro816Ala)
|
rs200336324
|
0.00001
|
NM_000094.4(COL7A1):c.2588C>T (p.Pro863Leu)
|
rs968625343
|
0.00001
|
NM_000094.4(COL7A1):c.2633G>A (p.Arg878His)
|
rs775718981
|
0.00001
|
NM_000094.4(COL7A1):c.2709G>A (p.Glu903=)
|
rs2045429277
|
0.00001
|
NM_000094.4(COL7A1):c.2743G>A (p.Glu915Lys)
|
rs747337505
|
0.00001
|
NM_000094.4(COL7A1):c.2858-3C>T
|
rs928128124
|
0.00001
|
NM_000094.4(COL7A1):c.2866C>T (p.Arg956Cys)
|
rs200769466
|
0.00001
|
NM_000094.4(COL7A1):c.28C>T (p.Leu10Phe)
|
rs1346272373
|
0.00001
|
NM_000094.4(COL7A1):c.3016C>T (p.Leu1006Phe)
|
rs1305255095
|
0.00001
|
NM_000094.4(COL7A1):c.3118G>A (p.Ala1040Thr)
|
rs113041019
|
0.00001
|
NM_000094.4(COL7A1):c.3132G>C (p.Gln1044His)
|
rs1486508439
|
0.00001
|
NM_000094.4(COL7A1):c.313C>T (p.Arg105Cys)
|
rs778085630
|
0.00001
|
NM_000094.4(COL7A1):c.3140-3C>A
|
rs763870721
|
0.00001
|
NM_000094.4(COL7A1):c.3181G>A (p.Ala1061Thr)
|
rs778942747
|
0.00001
|
NM_000094.4(COL7A1):c.3287T>A (p.Leu1096Gln)
|
rs1474365354
|
0.00001
|
NM_000094.4(COL7A1):c.3301C>T (p.Arg1101Trp)
|
rs777235438
|
0.00001
|
NM_000094.4(COL7A1):c.3374C>T (p.Pro1125Leu)
|
rs1357938616
|
0.00001
|
NM_000094.4(COL7A1):c.3461G>A (p.Arg1154His)
|
rs201389550
|
0.00001
|
NM_000094.4(COL7A1):c.3496G>A (p.Asp1166Asn)
|
rs759356363
|
0.00001
|
NM_000094.4(COL7A1):c.3601C>T (p.Arg1201Cys)
|
rs755769656
|
0.00001
|
NM_000094.4(COL7A1):c.3604C>T (p.Arg1202Cys)
|
rs754979304
|
0.00001
|
NM_000094.4(COL7A1):c.3727C>T (p.Arg1243Trp)
|
rs1189017197
|
0.00001
|
NM_000094.4(COL7A1):c.4162C>T (p.Arg1388Cys)
|
rs565472139
|
0.00001
|
NM_000094.4(COL7A1):c.4209C>T (p.Gly1403=)
|
rs759186064
|
0.00001
|
NM_000094.4(COL7A1):c.4214G>A (p.Arg1405His)
|
rs2045011505
|
0.00001
|
NM_000094.4(COL7A1):c.4223G>A (p.Arg1408Gln)
|
rs576204059
|
0.00001
|
NM_000094.4(COL7A1):c.4264G>A (p.Glu1422Lys)
|
rs369814181
|
0.00001
|
NM_000094.4(COL7A1):c.4278G>A (p.Pro1426=)
|
rs749738987
|
0.00001
|
NM_000094.4(COL7A1):c.4282C>A (p.Leu1428Ile)
|
rs770956294
|
0.00001
|
NM_000094.4(COL7A1):c.4484G>T (p.Gly1495Val)
|
rs1381334911
|
0.00001
|
NM_000094.4(COL7A1):c.469G>A (p.Asp157Asn)
|
rs767282486
|
0.00001
|
NM_000094.4(COL7A1):c.4708G>A (p.Val1570Ile)
|
rs2044772508
|
0.00001
|
NM_000094.4(COL7A1):c.4782+3G>A
|
rs373084149
|
0.00001
|
NM_000094.4(COL7A1):c.4858C>T (p.Arg1620Trp)
|
rs781705982
|
0.00001
|
NM_000094.4(COL7A1):c.4899+31G>A
|
rs370500985
|
0.00001
|
NM_000094.4(COL7A1):c.5005G>A (p.Val1669Met)
|
rs1486869403
|
0.00001
|
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu)
|
rs121912845
|
0.00001
|
NM_000094.4(COL7A1):c.5173G>A (p.Gly1725Arg)
|
rs772195825
|
0.00001
|
NM_000094.4(COL7A1):c.5291G>C (p.Gly1764Ala)
|
rs1057520568
|
0.00001
|
NM_000094.4(COL7A1):c.5315G>A (p.Arg1772Gln)
|
rs1016459702
|
0.00001
|
NM_000094.4(COL7A1):c.5387A>G (p.Asn1796Ser)
|
rs973076467
|
0.00001
|
NM_000094.4(COL7A1):c.556G>T (p.Val186Phe)
|
rs2045838430
|
0.00001
|
NM_000094.4(COL7A1):c.5701G>A (p.Gly1901Ser)
|
rs762189891
|
0.00001
|
NM_000094.4(COL7A1):c.5933G>A (p.Arg1978Gln)
|
rs754315799
|
0.00001
|
NM_000094.4(COL7A1):c.5979+4A>T
|
rs749607047
|
0.00001
|
NM_000094.4(COL7A1):c.6041A>C (p.Gln2014Pro)
|
rs755954867
|
0.00001
|
NM_000094.4(COL7A1):c.631G>A (p.Val211Ile)
|
rs557797952
|
0.00001
|
NM_000094.4(COL7A1):c.6395G>A (p.Gly2132Asp)
|
rs755669902
|
0.00001
|
NM_000094.4(COL7A1):c.6456G>A (p.Pro2152=)
|
rs746447568
|
0.00001
|
NM_000094.4(COL7A1):c.6526C>T (p.Pro2176Ser)
|
rs755178152
|
0.00001
|
NM_000094.4(COL7A1):c.6546T>G (p.His2182Gln)
|
rs1459217638
|
0.00001
|
NM_000094.4(COL7A1):c.6565G>C (p.Gly2189Arg)
|
rs1355721102
|
0.00001
|
NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe)
|
rs575575729
|
0.00001
|
NM_000094.4(COL7A1):c.674C>T (p.Thr225Ile)
|
rs764789081
|
0.00001
|
NM_000094.4(COL7A1):c.680C>G (p.Pro227Arg)
|
rs1450480489
|
0.00001
|
NM_000094.4(COL7A1):c.6910G>A (p.Gly2304Arg)
|
rs1461460130
|
0.00001
|
NM_000094.4(COL7A1):c.6943C>G (p.Pro2315Ala)
|
rs1434362269
|
0.00001
|
NM_000094.4(COL7A1):c.6977C>A (p.Pro2326Gln)
|
rs763000800
|
0.00001
|
NM_000094.4(COL7A1):c.7060G>C (p.Gly2354Arg)
|
rs748466015
|
0.00001
|
NM_000094.4(COL7A1):c.7192G>A (p.Gly2398Ser)
|
rs755361003
|
0.00001
|
NM_000094.4(COL7A1):c.7204G>A (p.Val2402Ile)
|
rs761576147
|
0.00001
|
NM_000094.4(COL7A1):c.7391G>A (p.Gly2464Glu)
|
rs1176292922
|
0.00001
|
NM_000094.4(COL7A1):c.7421G>A (p.Arg2474His)
|
rs988796477
|
0.00001
|
NM_000094.4(COL7A1):c.7484C>T (p.Thr2495Met)
|
rs771717980
|
0.00001
|
NM_000094.4(COL7A1):c.752A>G (p.Gln251Arg)
|
rs1227103410
|
0.00001
|
NM_000094.4(COL7A1):c.7763A>C (p.Gln2588Pro)
|
rs1233028552
|
0.00001
|
NM_000094.4(COL7A1):c.7981A>T (p.Met2661Leu)
|
rs1356408238
|
0.00001
|
NM_000094.4(COL7A1):c.8107C>T (p.Arg2703Trp)
|
rs759039839
|
0.00001
|
NM_000094.4(COL7A1):c.814C>A (p.Leu272Met)
|
rs761770920
|
0.00001
|
NM_000094.4(COL7A1):c.8441G>A (p.Arg2814Gln)
|
rs767236747
|
0.00001
|
NM_000094.4(COL7A1):c.8470G>T (p.Ala2824Ser)
|
rs1210237099
|
0.00001
|
NM_000094.4(COL7A1):c.8635C>T (p.Pro2879Ser)
|
rs771286848
|
0.00001
|
NM_000094.4(COL7A1):c.8676G>T (p.Trp2892Cys)
|
rs755464659
|
0.00001
|
NM_000094.4(COL7A1):c.8824G>T (p.Ala2942Ser)
|
rs1441002372
|
0.00001
|
NM_000094.4(COL7A1):c.963G>T (p.Gly321=)
|
rs745686522
|
0.00001
|
NM_000094.4(COL7A1):c.98G>A (p.Arg33His)
|
rs767387822
|
0.00001
|
NC_000003.11:g.(?_48613682)_(48613729_?)dup
|
|
|
NM_000094.4(COL7A1):c.1010A>G (p.Asn337Ser)
|
rs374780340
|
|
NM_000094.4(COL7A1):c.1033G>C (p.Val345Leu)
|
|
|
NM_000094.4(COL7A1):c.1048G>A (p.Val350Met)
|
|
|
NM_000094.4(COL7A1):c.1081C>T (p.Arg361Trp)
|
rs776805869
|
|
NM_000094.4(COL7A1):c.1111C>G (p.Gln371Glu)
|
rs2107791926
|
|
NM_000094.4(COL7A1):c.1114G>A (p.Glu372Lys)
|
|
|
NM_000094.4(COL7A1):c.1132G>A (p.Gly378Ser)
|
rs765113230
|
|
NM_000094.4(COL7A1):c.1132G>T (p.Gly378Cys)
|
|
|
NM_000094.4(COL7A1):c.1136C>T (p.Ser379Leu)
|
|
|
NM_000094.4(COL7A1):c.1153T>G (p.Leu385Val)
|
|
|
NM_000094.4(COL7A1):c.1181C>T (p.Thr394Ile)
|
|
|
NM_000094.4(COL7A1):c.1187G>A (p.Ser396Asn)
|
|
|
NM_000094.4(COL7A1):c.1198G>C (p.Gly400Arg)
|
|
|
NM_000094.4(COL7A1):c.1199G>T (p.Gly400Val)
|
|
|
NM_000094.4(COL7A1):c.1207G>T (p.Val403Leu)
|
|
|
NM_000094.4(COL7A1):c.1216G>A (p.Ala406Thr)
|
|
|
NM_000094.4(COL7A1):c.1219A>C (p.Thr407Pro)
|
|
|
NM_000094.4(COL7A1):c.1228A>G (p.Met410Val)
|
|
|
NM_000094.4(COL7A1):c.122T>A (p.Phe41Tyr)
|
|
|
NM_000094.4(COL7A1):c.1241-12T>G
|
|
|
NM_000094.4(COL7A1):c.1241-3C>A
|
|
|
NM_000094.4(COL7A1):c.1242C>A (p.Asp414Glu)
|
|
|
NM_000094.4(COL7A1):c.1244C>T (p.Ala415Val)
|
rs2107790367
|
|
NM_000094.4(COL7A1):c.1265G>A (p.Arg422His)
|
|
|
NM_000094.4(COL7A1):c.1286C>T (p.Thr429Ile)
|
|
|
NM_000094.4(COL7A1):c.1328G>A (p.Gly443Asp)
|
|
|
NM_000094.4(COL7A1):c.1378G>A (p.Val460Met)
|
|
|
NM_000094.4(COL7A1):c.1391C>T (p.Ser464Phe)
|
|
|
NM_000094.4(COL7A1):c.1427C>T (p.Pro476Leu)
|
|
|
NM_000094.4(COL7A1):c.1453T>C (p.Tyr485His)
|
|
|
NM_000094.4(COL7A1):c.1460T>G (p.Leu487Arg)
|
|
|
NM_000094.4(COL7A1):c.1469G>A (p.Gly490Asp)
|
|
|
NM_000094.4(COL7A1):c.146T>C (p.Ile49Thr)
|
|
|
NM_000094.4(COL7A1):c.14T>C (p.Leu5Pro)
|
|
|
NM_000094.4(COL7A1):c.1508-3C>T
|
|
|
NM_000094.4(COL7A1):c.1514A>G (p.Glu505Gly)
|
|
|
NM_000094.4(COL7A1):c.151C>G (p.Arg51Gly)
|
|
|
NM_000094.4(COL7A1):c.1528C>T (p.Pro510Ser)
|
|
|
NM_000094.4(COL7A1):c.1537G>C (p.Asp513His)
|
rs2045701662
|
|
NM_000094.4(COL7A1):c.1561G>C (p.Gly521Arg)
|
|
|
NM_000094.4(COL7A1):c.1567C>T (p.Arg523Trp)
|
|
|
NM_000094.4(COL7A1):c.1592T>G (p.Val531Gly)
|
|
|
NM_000094.4(COL7A1):c.1608G>C (p.Gln536His)
|
rs2107786870
|
|
NM_000094.4(COL7A1):c.1615A>T (p.Ile539Phe)
|
rs1303497009
|
|
NM_000094.4(COL7A1):c.163C>T (p.Arg55Cys)
|
|
|
NM_000094.4(COL7A1):c.1673C>G (p.Thr558Arg)
|
|
|
NM_000094.4(COL7A1):c.1681G>A (p.Asp561Asn)
|
rs1320589494
|
|
NM_000094.4(COL7A1):c.1738G>A (p.Gly580Ser)
|
|
|
NM_000094.4(COL7A1):c.1741C>T (p.Pro581Ser)
|
|
|
NM_000094.4(COL7A1):c.1745G>A (p.Arg582His)
|
|
|
NM_000094.4(COL7A1):c.1751G>A (p.Gly584Asp)
|
|
|
NM_000094.4(COL7A1):c.175A>G (p.Ser59Gly)
|
|
|
NM_000094.4(COL7A1):c.1775G>A (p.Arg592His)
|
|
|
NM_000094.4(COL7A1):c.1778G>A (p.Arg593Gln)
|
|
|
NM_000094.4(COL7A1):c.1781-18_1781-12dup
|
rs2045623928
|
|
NM_000094.4(COL7A1):c.1781-20C>G
|
|
|
NM_000094.4(COL7A1):c.1790C>T (p.Thr597Ile)
|
|
|
NM_000094.4(COL7A1):c.17T>C (p.Leu6Pro)
|
|
|
NM_000094.4(COL7A1):c.1814G>A (p.Arg605Gln)
|
|
|
NM_000094.4(COL7A1):c.1834A>G (p.Thr612Ala)
|
|
|
NM_000094.4(COL7A1):c.1835C>T (p.Thr612Met)
|
|
|
NM_000094.4(COL7A1):c.1844G>C (p.Arg615Thr)
|
|
|
NM_000094.4(COL7A1):c.1877G>T (p.Gly626Val)
|
|
|
NM_000094.4(COL7A1):c.1889G>C (p.Ser630Thr)
|
|
|
NM_000094.4(COL7A1):c.1891T>G (p.Trp631Gly)
|
rs1257001197
|
|
NM_000094.4(COL7A1):c.1898_1903del (p.Thr633_Gly634del)
|
|
|
NM_000094.4(COL7A1):c.1900G>C (p.Gly634Arg)
|
|
|
NM_000094.4(COL7A1):c.1901G>T (p.Gly634Val)
|
|
|
NM_000094.4(COL7A1):c.1902C>T (p.Gly634=)
|
|
|
NM_000094.4(COL7A1):c.1905T>C (p.Ser635=)
|
rs2107780154
|
|
NM_000094.4(COL7A1):c.1906+18G>A
|
|
|
NM_000094.4(COL7A1):c.1906+3del
|
|
|
NM_000094.4(COL7A1):c.1930C>T (p.Pro644Ser)
|
rs1384386683
|
|
NM_000094.4(COL7A1):c.1934C>T (p.Pro645Leu)
|
|
|
NM_000094.4(COL7A1):c.1937A>T (p.Asp646Val)
|
|
|
NM_000094.4(COL7A1):c.1943C>T (p.Thr648Ile)
|
rs2107778887
|
|
NM_000094.4(COL7A1):c.1946C>T (p.Ala649Val)
|
|
|
NM_000094.4(COL7A1):c.1954A>T (p.Ile652Phe)
|
rs754253382
|
|
NM_000094.4(COL7A1):c.1962G>T (p.Gly654=)
|
|
|
NM_000094.4(COL7A1):c.197T>C (p.Leu66Pro)
|
|
|
NM_000094.4(COL7A1):c.2005C>G (p.Arg669Gly)
|
|
|
NM_000094.4(COL7A1):c.2006G>C (p.Arg669Pro)
|
|
|
NM_000094.4(COL7A1):c.2048C>A (p.Thr683Lys)
|
|
|
NM_000094.4(COL7A1):c.2048C>G (p.Thr683Arg)
|
|
|
NM_000094.4(COL7A1):c.2048C>T (p.Thr683Met)
|
|
|
NM_000094.4(COL7A1):c.2050+3C>T
|
|
|
NM_000094.4(COL7A1):c.2087A>G (p.Gln696Arg)
|
rs2107774731
|
|
NM_000094.4(COL7A1):c.2110A>G (p.Ile704Val)
|
|
|
NM_000094.4(COL7A1):c.2111T>C (p.Ile704Thr)
|
|
|
NM_000094.4(COL7A1):c.2116T>G (p.Trp706Gly)
|
|
|
NM_000094.4(COL7A1):c.2147G>T (p.Arg716Met)
|
|
|
NM_000094.4(COL7A1):c.214G>C (p.Ala72Pro)
|
|
|
NM_000094.4(COL7A1):c.2162C>T (p.Ser721Leu)
|
|
|
NM_000094.4(COL7A1):c.2170+3G>A
|
|
|
NM_000094.4(COL7A1):c.2171-3C>T
|
|
|
NM_000094.4(COL7A1):c.2195C>T (p.Ser732Phe)
|
|
|
NM_000094.4(COL7A1):c.220G>A (p.Ala74Thr)
|
|
|
NM_000094.4(COL7A1):c.221C>T (p.Ala74Val)
|
|
|
NM_000094.4(COL7A1):c.2252T>A (p.Val751Glu)
|
rs2107772444
|
|
NM_000094.4(COL7A1):c.226G>C (p.Gly76Arg)
|
|
|
NM_000094.4(COL7A1):c.2275G>A (p.Gly759Ser)
|
|
|
NM_000094.4(COL7A1):c.2278G>T (p.Val760Leu)
|
|
|
NM_000094.4(COL7A1):c.227G>A (p.Gly76Asp)
|
|
|
NM_000094.4(COL7A1):c.2282A>T (p.Asp761Val)
|
|
|
NM_000094.4(COL7A1):c.2290C>T (p.Pro764Ser)
|
|
|
NM_000094.4(COL7A1):c.2293G>T (p.Ala765Ser)
|
|
|
NM_000094.4(COL7A1):c.2300T>C (p.Val767Ala)
|
|
|
NM_000094.4(COL7A1):c.2302G>A (p.Val768Ile)
|
|
|
NM_000094.4(COL7A1):c.2315C>G (p.Ala772Gly)
|
|
|
NM_000094.4(COL7A1):c.2326G>A (p.Val776Met)
|
|
|
NM_000094.4(COL7A1):c.2332C>T (p.Arg778Cys)
|
|
|
NM_000094.4(COL7A1):c.2359G>C (p.Ala787Pro)
|
rs2107769039
|
|
NM_000094.4(COL7A1):c.2360C>T (p.Ala787Val)
|
rs2107769020
|
|
NM_000094.4(COL7A1):c.2368G>A (p.Asp790Asn)
|
|
|
NM_000094.4(COL7A1):c.2432G>A (p.Arg811Gln)
|
|
|
NM_000094.4(COL7A1):c.2440+3A>G
|
|
|
NM_000094.4(COL7A1):c.2443G>A (p.Gly815Ser)
|
|
|
NM_000094.4(COL7A1):c.2451G>A (p.Met817Ile)
|
|
|
NM_000094.4(COL7A1):c.2453G>C (p.Arg818Thr)
|
|
|
NM_000094.4(COL7A1):c.2461A>G (p.Ile821Val)
|
|
|
NM_000094.4(COL7A1):c.2489A>C (p.Glu830Ala)
|
|
|
NM_000094.4(COL7A1):c.2497G>A (p.Gly833Ser)
|
|
|
NM_000094.4(COL7A1):c.2497G>C (p.Gly833Arg)
|
|
|
NM_000094.4(COL7A1):c.2510G>A (p.Gly837Glu)
|
|
|
NM_000094.4(COL7A1):c.2528G>A (p.Arg843Gln)
|
|
|
NM_000094.4(COL7A1):c.2531T>A (p.Val844Glu)
|
|
|
NM_000094.4(COL7A1):c.2549A>G (p.Asp850Gly)
|
|
|
NM_000094.4(COL7A1):c.2552G>T (p.Arg851Leu)
|
|
|
NM_000094.4(COL7A1):c.2555A>T (p.Glu852Val)
|
|
|
NM_000094.4(COL7A1):c.2558G>A (p.Gly853Asp)
|
|
|
NM_000094.4(COL7A1):c.2569T>G (p.Ser857Ala)
|
|
|
NM_000094.4(COL7A1):c.256G>A (p.Asp86Asn)
|
|
|
NM_000094.4(COL7A1):c.2570C>G (p.Ser857Cys)
|
rs1404367222
|
|
NM_000094.4(COL7A1):c.2572A>G (p.Ile858Val)
|
|
|
NM_000094.4(COL7A1):c.2574TGT[1] (p.Val860del)
|
|
|
NM_000094.4(COL7A1):c.2585C>T (p.Thr862Met)
|
|
|
NM_000094.4(COL7A1):c.2586G>C (p.Thr862=)
|
|
|
NM_000094.4(COL7A1):c.25G>A (p.Ala9Thr)
|
|
|
NM_000094.4(COL7A1):c.2611G>C (p.Gly871Arg)
|
|
|
NM_000094.4(COL7A1):c.2621A>T (p.His874Leu)
|
|
|
NM_000094.4(COL7A1):c.2623G>C (p.Val875Leu)
|
|
|
NM_000094.4(COL7A1):c.2625_2626delinsCT (p.Val876Leu)
|
rs2045441032
|
|
NM_000094.4(COL7A1):c.2644T>C (p.Ser882Pro)
|
rs2045438463
|
|
NM_000094.4(COL7A1):c.267-4A>G
|
|
|
NM_000094.4(COL7A1):c.2670G>A (p.Val890=)
|
|
|
NM_000094.4(COL7A1):c.2678C>T (p.Ala893Val)
|
rs2854389
|
|
NM_000094.4(COL7A1):c.2681A>T (p.Gln894Leu)
|
|
|
NM_000094.4(COL7A1):c.2693T>C (p.Leu898Pro)
|
|
|
NM_000094.4(COL7A1):c.2698T>G (p.Trp900Gly)
|
rs2107763593
|
|
NM_000094.4(COL7A1):c.2710+3G>A
|
|
|
NM_000094.4(COL7A1):c.2714G>T (p.Gly905Val)
|
|
|
NM_000094.4(COL7A1):c.2729G>C (p.Arg910Pro)
|
rs373718618
|
|
NM_000094.4(COL7A1):c.2731G>A (p.Val911Ile)
|
rs1176948687
|
|
NM_000094.4(COL7A1):c.2750G>A (p.Ser917Asn)
|
rs1205999989
|
|
NM_000094.4(COL7A1):c.2767G>A (p.Gly923Arg)
|
|
|
NM_000094.4(COL7A1):c.276C>A (p.Phe92Leu)
|
rs746563255
|
|
NM_000094.4(COL7A1):c.2776C>T (p.Pro926Ser)
|
|
|
NM_000094.4(COL7A1):c.2791C>T (p.Arg931Cys)
|
rs143979792
|
|
NM_000094.4(COL7A1):c.2813G>A (p.Gly938Glu)
|
rs2045384688
|
|
NM_000094.4(COL7A1):c.2816_2817inv (p.Pro939Leu)
|
|
|
NM_000094.4(COL7A1):c.282_283delinsCT (p.Asp95Tyr)
|
rs2107802249
|
|
NM_000094.4(COL7A1):c.283G>C (p.Asp95His)
|
|
|
NM_000094.4(COL7A1):c.2855C>A (p.Thr952Asn)
|
|
|
NM_000094.4(COL7A1):c.2908G>A (p.Asp970Asn)
|
|
|
NM_000094.4(COL7A1):c.2983C>T (p.Pro995Ser)
|
|
|
NM_000094.4(COL7A1):c.298G>A (p.Gly100Arg)
|
|
|
NM_000094.4(COL7A1):c.3001G>A (p.Gly1001Arg)
|
|
|
NM_000094.4(COL7A1):c.3025A>G (p.Ile1009Val)
|
|
|
NM_000094.4(COL7A1):c.3039G>C (p.Gln1013His)
|
rs570498790
|
|
NM_000094.4(COL7A1):c.3053T>A (p.Leu1018Gln)
|
|
|
NM_000094.4(COL7A1):c.3062G>C (p.Gly1021Ala)
|
rs533045231
|
|
NM_000094.4(COL7A1):c.3078C>G (p.Phe1026Leu)
|
|
|
NM_000094.4(COL7A1):c.3091G>A (p.Val1031Ile)
|
rs1206576149
|
|
NM_000094.4(COL7A1):c.3103G>A (p.Val1035Met)
|
|
|
NM_000094.4(COL7A1):c.3115G>C (p.Glu1039Gln)
|
rs776932495
|
|
NM_000094.4(COL7A1):c.3138A>G (p.Pro1046=)
|
|
|
NM_000094.4(COL7A1):c.3157G>A (p.Ala1053Thr)
|
|
|
NM_000094.4(COL7A1):c.316G>T (p.Ala106Ser)
|
|
|
NM_000094.4(COL7A1):c.3176C>T (p.Pro1059Leu)
|
|
|
NM_000094.4(COL7A1):c.3203G>T (p.Arg1068Leu)
|
|
|
NM_000094.4(COL7A1):c.3214A>G (p.Thr1072Ala)
|
rs2107753501
|
|
NM_000094.4(COL7A1):c.3221G>A (p.Arg1074Lys)
|
|
|
NM_000094.4(COL7A1):c.3224T>C (p.Val1075Ala)
|
rs2045316478
|
|
NM_000094.4(COL7A1):c.322C>T (p.Arg108Cys)
|
|
|
NM_000094.4(COL7A1):c.3276+6G>C
|
|
|
NM_000094.4(COL7A1):c.3277-3C>T
|
|
|
NM_000094.4(COL7A1):c.3289T>A (p.Ser1097Thr)
|
|
|
NM_000094.4(COL7A1):c.3317T>G (p.Phe1106Cys)
|
|
|
NM_000094.4(COL7A1):c.3353T>C (p.Leu1118Ser)
|
|
|
NM_000094.4(COL7A1):c.341G>T (p.Gly114Val)
|
|
|
NM_000094.4(COL7A1):c.3424C>T (p.His1142Tyr)
|
|
|
NM_000094.4(COL7A1):c.3433A>G (p.Met1145Val)
|
|
|
NM_000094.4(COL7A1):c.3442C>A (p.Pro1148Thr)
|
|
|
NM_000094.4(COL7A1):c.3457C>A (p.Arg1153Ser)
|
|
|
NM_000094.4(COL7A1):c.3458G>A (p.Arg1153His)
|
|
|
NM_000094.4(COL7A1):c.345C>T (p.Gly115=)
|
rs2107801642
|
|
NM_000094.4(COL7A1):c.3460C>T (p.Arg1154Cys)
|
|
|
NM_000094.4(COL7A1):c.3464A>G (p.Gln1155Arg)
|
rs2107748893
|
|
NM_000094.4(COL7A1):c.3470T>C (p.Val1157Ala)
|
|
|
NM_000094.4(COL7A1):c.3473C>T (p.Pro1158Leu)
|
|
|
NM_000094.4(COL7A1):c.3479T>C (p.Val1160Ala)
|
rs2045262257
|
|
NM_000094.4(COL7A1):c.3479_3496del (p.Val1160_Val1165del)
|
|
|
NM_000094.4(COL7A1):c.3487C>G (p.Leu1163Val)
|
|
|
NM_000094.4(COL7A1):c.348C>A (p.Asn116Lys)
|
|
|
NM_000094.4(COL7A1):c.3503C>G (p.Pro1168Arg)
|
|
|
NM_000094.4(COL7A1):c.3539C>G (p.Ala1180Gly)
|
|
|
NM_000094.4(COL7A1):c.353G>A (p.Arg118His)
|
rs966257558
|
|
NM_000094.4(COL7A1):c.353G>C (p.Arg118Pro)
|
|
|
NM_000094.4(COL7A1):c.3547_3549dup (p.Ser1183_Gly1184insSer)
|
|
|
NM_000094.4(COL7A1):c.3549T>C (p.Ser1183=)
|
|
|
NM_000094.4(COL7A1):c.3550+11G>A
|
rs2045256350
|
|
NM_000094.4(COL7A1):c.3550+4A>C
|
|
|
NM_000094.4(COL7A1):c.3586G>A (p.Asp1196Asn)
|
rs1417574149
|
|
NM_000094.4(COL7A1):c.3587A>G (p.Asp1196Gly)
|
|
|
NM_000094.4(COL7A1):c.3610G>A (p.Ala1204Thr)
|
rs2107747092
|
|
NM_000094.4(COL7A1):c.3613C>T (p.Pro1205Ser)
|
|
|
NM_000094.4(COL7A1):c.3628G>C (p.Val1210Leu)
|
|
|
NM_000094.4(COL7A1):c.3637T>A (p.Phe1213Ile)
|
|
|
NM_000094.4(COL7A1):c.364G>A (p.Ala122Thr)
|
rs1209617628
|
|
NM_000094.4(COL7A1):c.364G>T (p.Ala122Ser)
|
|
|
NM_000094.4(COL7A1):c.365C>T (p.Ala122Val)
|
|
|
NM_000094.4(COL7A1):c.3674C>T (p.Ala1225Val)
|
|
|
NM_000094.4(COL7A1):c.3715A>G (p.Thr1239Ala)
|
|
|
NM_000094.4(COL7A1):c.3746T>C (p.Val1249Ala)
|
|
|
NM_000094.4(COL7A1):c.3754C>A (p.Pro1252Thr)
|
|
|
NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr)
|
|
|
NM_000094.4(COL7A1):c.3786+3G>A
|
rs2107744113
|
|
NM_000094.4(COL7A1):c.3786+6T>C
|
|
|
NM_000094.4(COL7A1):c.3803T>C (p.Val1268Ala)
|
|
|
NM_000094.4(COL7A1):c.3803T>G (p.Val1268Gly)
|
|
|
NM_000094.4(COL7A1):c.3824G>A (p.Gly1275Asp)
|
|
|
NM_000094.4(COL7A1):c.3826C>T (p.Leu1276Phe)
|
rs2045195228
|
|
NM_000094.4(COL7A1):c.3831G>A (p.Pro1277=)
|
|
|
NM_000094.4(COL7A1):c.3837G>T (p.Arg1279Ser)
|
|
|
NM_000094.4(COL7A1):c.3844G>A (p.Ala1282Thr)
|
|
|
NM_000094.4(COL7A1):c.3853C>A (p.Pro1285Thr)
|
rs1168566312
|
|
NM_000094.4(COL7A1):c.3861_3862delinsTA (p.Pro1288Thr)
|
rs2107742052
|
|
NM_000094.4(COL7A1):c.3889G>C (p.Glu1297Gln)
|
|
|
NM_000094.4(COL7A1):c.3894+6T>C
|
|
|
NM_000094.4(COL7A1):c.38G>C (p.Gly13Ala)
|
|
|
NM_000094.4(COL7A1):c.3916C>T (p.Arg1306Cys)
|
rs775397461
|
|
NM_000094.4(COL7A1):c.3920C>T (p.Pro1307Leu)
|
rs1455856448
|
|
NM_000094.4(COL7A1):c.3934C>T (p.Arg1312Cys)
|
|
|
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs)
|
rs747912732
|
|
NM_000094.4(COL7A1):c.3968G>C (p.Gly1323Ala)
|
|
|
NM_000094.4(COL7A1):c.3975+6C>T
|
|
|
NM_000094.4(COL7A1):c.3980C>T (p.Ser1327Phe)
|
|
|
NM_000094.4(COL7A1):c.4009C>G (p.Pro1337Ala)
|
|
|
NM_000094.4(COL7A1):c.403C>A (p.Leu135Met)
|
rs145560571
|
|
NM_000094.4(COL7A1):c.4047G>A (p.Pro1349=)
|
|
|
NM_000094.4(COL7A1):c.4057G>A (p.Gly1353Arg)
|
|
|
NM_000094.4(COL7A1):c.4057G>C (p.Gly1353Arg)
|
|
|
NM_000094.4(COL7A1):c.4058G>T (p.Gly1353Val)
|
|
|
NM_000094.4(COL7A1):c.4072G>A (p.Gly1358Ser)
|
rs750288565
|
|
NM_000094.4(COL7A1):c.4088T>C (p.Leu1363Pro)
|
|
|
NM_000094.4(COL7A1):c.4091C>T (p.Pro1364Leu)
|
rs2107734875
|
|
NM_000094.4(COL7A1):c.410G>A (p.Arg137Gln)
|
|
|
NM_000094.4(COL7A1):c.4112G>C (p.Gly1371Ala)
|
|
|
NM_000094.4(COL7A1):c.4119G>A (p.Ser1373=)
|
|
|
NM_000094.4(COL7A1):c.4153C>A (p.Pro1385Thr)
|
|
|
NM_000094.4(COL7A1):c.4166G>T (p.Gly1389Val)
|
|
|
NM_000094.4(COL7A1):c.4177C>T (p.Leu1393Phe)
|
|
|
NM_000094.4(COL7A1):c.4183G>A (p.Gly1395Arg)
|
rs2107732981
|
|
NM_000094.4(COL7A1):c.4186A>G (p.Thr1396Ala)
|
|
|
NM_000094.4(COL7A1):c.4193T>C (p.Met1398Thr)
|
|
|
NM_000094.4(COL7A1):c.4205A>G (p.Lys1402Arg)
|
|
|
NM_000094.4(COL7A1):c.4224+3_4224+6del
|
|
|
NM_000094.4(COL7A1):c.4224G>A (p.Arg1408=)
|
|
|
NM_000094.4(COL7A1):c.4238C>T (p.Pro1413Leu)
|
rs754627931
|
|
NM_000094.4(COL7A1):c.4252A>G (p.Ile1418Val)
|
|
|
NM_000094.4(COL7A1):c.4258C>T (p.Pro1420Ser)
|
|
|
NM_000094.4(COL7A1):c.426+9_426+18del
|
|
|
NM_000094.4(COL7A1):c.4271G>A (p.Gly1424Glu)
|
|
|
NM_000094.4(COL7A1):c.4279-15C>G
|
|
|
NM_000094.4(COL7A1):c.4291A>C (p.Ser1431Arg)
|
|
|
NM_000094.4(COL7A1):c.4293C>G (p.Ser1431Arg)
|
|
|
NM_000094.4(COL7A1):c.4297G>C (p.Gly1433Arg)
|
rs2044972455
|
|
NM_000094.4(COL7A1):c.4312G>T (p.Val1438Phe)
|
rs148625586
|
|
NM_000094.4(COL7A1):c.4328A>T (p.Lys1443Met)
|
rs2107728341
|
|
NM_000094.4(COL7A1):c.4330A>G (p.Lys1444Glu)
|
|
|
NM_000094.4(COL7A1):c.4341+6A>G
|
|
|
NM_000094.4(COL7A1):c.4353G>T (p.Glu1451Asp)
|
rs2107727375
|
|
NM_000094.4(COL7A1):c.4364C>T (p.Pro1455Leu)
|
|
|
NM_000094.4(COL7A1):c.4392G>A (p.Pro1464=)
|
|
|
NM_000094.4(COL7A1):c.4402-16A>G
|
|
|
NM_000094.4(COL7A1):c.4408C>G (p.Arg1470Gly)
|
rs769297158
|
|
NM_000094.4(COL7A1):c.4426A>G (p.Ile1476Val)
|
|
|
NM_000094.4(COL7A1):c.4427T>C (p.Ile1476Thr)
|
rs2044930168
|
|
NM_000094.4(COL7A1):c.4448G>C (p.Gly1483Ala)
|
|
|
NM_000094.4(COL7A1):c.4450T>C (p.Phe1484Leu)
|
|
|
NM_000094.4(COL7A1):c.4451T>C (p.Phe1484Ser)
|
|
|
NM_000094.4(COL7A1):c.4480A>G (p.Lys1494Glu)
|
rs2107723957
|
|
NM_000094.4(COL7A1):c.4482+5G>A
|
|
|
NM_000094.4(COL7A1):c.4495C>A (p.Pro1499Thr)
|
|
|
NM_000094.4(COL7A1):c.4518+6C>T
|
|
|
NM_000094.4(COL7A1):c.4519-3C>T
|
rs2044853178
|
|
NM_000094.4(COL7A1):c.4546G>A (p.Gly1516Arg)
|
rs758941226
|
|
NM_000094.4(COL7A1):c.4552A>G (p.Lys1518Glu)
|
rs2107720058
|
|
NM_000094.4(COL7A1):c.4576C>T (p.Pro1526Ser)
|
|
|
NM_000094.4(COL7A1):c.4586G>A (p.Arg1529His)
|
|
|
NM_000094.4(COL7A1):c.4609G>A (p.Gly1537Ser)
|
|
|
NM_000094.4(COL7A1):c.4637G>A (p.Gly1546Glu)
|
|
|
NM_000094.4(COL7A1):c.4642G>A (p.Ala1548Thr)
|
|
|
NM_000094.4(COL7A1):c.4661G>A (p.Gly1554Glu)
|
rs2107715075
|
|
NM_000094.4(COL7A1):c.466G>A (p.Val156Met)
|
|
|
NM_000094.4(COL7A1):c.4675G>T (p.Val1559Leu)
|
|
|
NM_000094.4(COL7A1):c.4684G>C (p.Ala1562Pro)
|
|
|
NM_000094.4(COL7A1):c.4694G>A (p.Arg1565Lys)
|
|
|
NM_000094.4(COL7A1):c.4711C>G (p.Gln1571Glu)
|
|
|
NM_000094.4(COL7A1):c.4718A>G (p.Glu1573Gly)
|
|
|
NM_000094.4(COL7A1):c.4721G>A (p.Arg1574Gln)
|
|
|
NM_000094.4(COL7A1):c.4722+4A>T
|
|
|
NM_000094.4(COL7A1):c.4723-7T>G
|
|
|
NM_000094.4(COL7A1):c.4732G>A (p.Gly1578Ser)
|
|
|
NM_000094.4(COL7A1):c.4733G>A (p.Gly1578Asp)
|
|
|
NM_000094.4(COL7A1):c.4737G>T (p.Leu1579Phe)
|
|
|
NM_000094.4(COL7A1):c.4744C>T (p.Pro1582Ser)
|
|
|
NM_000094.4(COL7A1):c.4756G>A (p.Gly1586Ser)
|
|
|
NM_000094.4(COL7A1):c.4760C>T (p.Pro1587Leu)
|
|
|
NM_000094.4(COL7A1):c.4775G>A (p.Gly1592Glu)
|
rs2107713178
|
|
NM_000094.4(COL7A1):c.4781G>A (p.Arg1594Gln)
|
|
|
NM_000094.4(COL7A1):c.4782+10T>G
|
|
|
NM_000094.4(COL7A1):c.4818+5G>T
|
|
|
NM_000094.4(COL7A1):c.4819-3C>T
|
|
|
NM_000094.4(COL7A1):c.4853C>T (p.Pro1618Leu)
|
|
|
NM_000094.4(COL7A1):c.485G>C (p.Arg162Thr)
|
|
|
NM_000094.4(COL7A1):c.486G>C (p.Arg162Ser)
|
|
|
NM_000094.4(COL7A1):c.4883G>C (p.Gly1628Ala)
|
|
|
NM_000094.4(COL7A1):c.4891G>A (p.Gly1631Arg)
|
|
|
NM_000094.4(COL7A1):c.4899T>C (p.Asp1633=)
|
|
|
NM_000094.4(COL7A1):c.4901G>A (p.Gly1634Asp)
|
rs1327829674
|
|
NM_000094.4(COL7A1):c.4917A>C (p.Lys1639Asn)
|
|
|
NM_000094.4(COL7A1):c.4936G>C (p.Gly1646Arg)
|
|
|
NM_000094.4(COL7A1):c.4939G>A (p.Asp1647Asn)
|
rs2107709091
|
|
NM_000094.4(COL7A1):c.4941C>G (p.Asp1647Glu)
|
|
|
NM_000094.4(COL7A1):c.4943C>T (p.Pro1648Leu)
|
|
|
NM_000094.4(COL7A1):c.494G>A (p.Gly165Glu)
|
|
|
NM_000094.4(COL7A1):c.4967A>C (p.Glu1656Ala)
|
|
|
NM_000094.4(COL7A1):c.4969C>T (p.Arg1657Cys)
|
|
|
NM_000094.4(COL7A1):c.4970G>A (p.Arg1657His)
|
|
|
NM_000094.4(COL7A1):c.4979G>A (p.Arg1660Gln)
|
|
|
NM_000094.4(COL7A1):c.497A>T (p.Gln166Leu)
|
rs2107800203
|
|
NM_000094.4(COL7A1):c.4980+4A>C
|
|
|
NM_000094.4(COL7A1):c.49G>C (p.Glu17Gln)
|
|
|
NM_000094.4(COL7A1):c.5022_5030dup (p.Asp1677_Pro1678insGlnGlyAsp)
|
|
|
NM_000094.4(COL7A1):c.502G>A (p.Val168Ile)
|
rs562413402
|
|
NM_000094.4(COL7A1):c.502G>T (p.Val168Phe)
|
|
|
NM_000094.4(COL7A1):c.5037A>T (p.Gly1679=)
|
|
|
NM_000094.4(COL7A1):c.5042A>G (p.Asp1681Gly)
|
|
|
NM_000094.4(COL7A1):c.5045G>A (p.Gly1682Glu)
|
|
|
NM_000094.4(COL7A1):c.5052+6T>A
|
|
|
NM_000094.4(COL7A1):c.5057G>C (p.Ser1686Thr)
|
|
|
NM_000094.4(COL7A1):c.505A>G (p.Lys169Glu)
|
|
|
NM_000094.4(COL7A1):c.5098-3C>T
|
|
|
NM_000094.4(COL7A1):c.5101C>T (p.Pro1701Ser)
|
|
|
NM_000094.4(COL7A1):c.5104C>T (p.Pro1702Ser)
|
|
|
NM_000094.4(COL7A1):c.5110C>A (p.Pro1704Thr)
|
|
|
NM_000094.4(COL7A1):c.5114C>T (p.Pro1705Leu)
|
|
|
NM_000094.4(COL7A1):c.5116G>A (p.Gly1706Arg)
|
|
|
NM_000094.4(COL7A1):c.5119C>T (p.Arg1707Trp)
|
|
|
NM_000094.4(COL7A1):c.5125-6C>A
|
|
|
NM_000094.4(COL7A1):c.5125-7_5125-6insAGTGAGAAGTCATT
|
rs2107701339
|
|
NM_000094.4(COL7A1):c.5126T>G (p.Val1709Gly)
|
rs2107701216
|
|
NM_000094.4(COL7A1):c.5137C>A (p.Pro1713Thr)
|
|
|
NM_000094.4(COL7A1):c.5149G>A (p.Glu1717Lys)
|
|
|
NM_000094.4(COL7A1):c.5155-17_5155-16delinsTT
|
|
|
NM_000094.4(COL7A1):c.5164_5187del (p.Gly1722_Pro1729del)
|
|
|
NM_000094.4(COL7A1):c.5170C>T (p.Arg1724Cys)
|
|
|
NM_000094.4(COL7A1):c.5189G>A (p.Arg1730Gln)
|
|
|
NM_000094.4(COL7A1):c.5199G>T (p.Lys1733Asn)
|
|
|
NM_000094.4(COL7A1):c.520+4A>G
|
rs997937705
|
|
NM_000094.4(COL7A1):c.520+4A>T
|
|
|
NM_000094.4(COL7A1):c.5206C>A (p.Pro1736Thr)
|
|
|
NM_000094.4(COL7A1):c.5212C>A (p.Leu1738Ile)
|
|
|
NM_000094.4(COL7A1):c.5221G>A (p.Ala1741Thr)
|
|
|
NM_000094.4(COL7A1):c.5222C>T (p.Ala1741Val)
|
|
|
NM_000094.4(COL7A1):c.5257C>A (p.Pro1753Thr)
|
|
|
NM_000094.4(COL7A1):c.5258C>A (p.Pro1753His)
|
|
|
NM_000094.4(COL7A1):c.5271+6T>C
|
rs2044571216
|
|
NM_000094.4(COL7A1):c.5272-6C>A
|
|
|
NM_000094.4(COL7A1):c.5323C>T (p.Pro1775Ser)
|
|
|
NM_000094.4(COL7A1):c.5366C>A (p.Ala1789Asp)
|
|
|
NM_000094.4(COL7A1):c.5374C>T (p.Pro1792Ser)
|
|
|
NM_000094.4(COL7A1):c.5377T>C (p.Ser1793Pro)
|
|
|
NM_000094.4(COL7A1):c.5381G>A (p.Gly1794Glu)
|
rs2044547049
|
|
NM_000094.4(COL7A1):c.539C>A (p.Pro180His)
|
rs2107799274
|
|
NM_000094.4(COL7A1):c.5425-6_5425-5del
|
rs762085901
|
|
NM_000094.4(COL7A1):c.542A>G (p.Glu181Gly)
|
|
|
NM_000094.4(COL7A1):c.5437C>A (p.Leu1813Ile)
|
rs2107692288
|
|
NM_000094.4(COL7A1):c.544G>A (p.Glu182Lys)
|
|
|
NM_000094.4(COL7A1):c.5476C>T (p.Pro1826Ser)
|
rs2107692007
|
|
NM_000094.4(COL7A1):c.5511A>C (p.Lys1837Asn)
|
|
|
NM_000094.4(COL7A1):c.5515G>C (p.Gly1839Arg)
|
rs2107691155
|
|
NM_000094.4(COL7A1):c.5524G>A (p.Gly1842Arg)
|
|
|
NM_000094.4(COL7A1):c.5532+3G>A
|
|
|
NM_000094.4(COL7A1):c.5532+4A>G
|
rs2107690960
|
|
NM_000094.4(COL7A1):c.5549C>T (p.Pro1850Leu)
|
|
|
NM_000094.4(COL7A1):c.5551G>C (p.Gly1851Arg)
|
|
|
NM_000094.4(COL7A1):c.5578G>A (p.Gly1860Arg)
|
|
|
NM_000094.4(COL7A1):c.5591C>A (p.Ala1864Asp)
|
|
|
NM_000094.4(COL7A1):c.5591C>T (p.Ala1864Val)
|
|
|
NM_000094.4(COL7A1):c.5597G>C (p.Gly1866Ala)
|
|
|
NM_000094.4(COL7A1):c.5609G>A (p.Arg1870His)
|
|
|
NM_000094.4(COL7A1):c.5612A>T (p.Asp1871Val)
|
|
|
NM_000094.4(COL7A1):c.5618C>G (p.Pro1873Arg)
|
rs1363574188
|
|
NM_000094.4(COL7A1):c.5626G>A (p.Glu1876Lys)
|
|
|
NM_000094.4(COL7A1):c.5654C>T (p.Pro1885Leu)
|
|
|
NM_000094.4(COL7A1):c.5666C>T (p.Pro1889Leu)
|
|
|
NM_000094.4(COL7A1):c.5672_5698del (p.Leu1891_Gly1899del)
|
|
|
NM_000094.4(COL7A1):c.5675C>T (p.Pro1892Leu)
|
|
|
NM_000094.4(COL7A1):c.5716C>G (p.Pro1906Ala)
|
rs1227012449
|
|
NM_000094.4(COL7A1):c.5737-3C>A
|
rs1345409176
|
|
NM_000094.4(COL7A1):c.5740G>A (p.Asp1914Asn)
|
|
|
NM_000094.4(COL7A1):c.5743C>G (p.Arg1915Gly)
|
|
|
NM_000094.4(COL7A1):c.5743C>T (p.Arg1915Cys)
|
|
|
NM_000094.4(COL7A1):c.5744G>A (p.Arg1915His)
|
|
|
NM_000094.4(COL7A1):c.5759C>T (p.Ser1920Phe)
|
|
|
NM_000094.4(COL7A1):c.5800G>A (p.Gly1934Arg)
|
|
|
NM_000094.4(COL7A1):c.580TTC[3] (p.Phe197del)
|
|
|
NM_000094.4(COL7A1):c.580TTC[5] (p.Phe197dup)
|
rs543646523
|
|
NM_000094.4(COL7A1):c.5820+5G>A
|
|
|
NM_000094.4(COL7A1):c.5820+6C>A
|
|
|
NM_000094.4(COL7A1):c.5820+6C>T
|
rs1481011823
|
|
NM_000094.4(COL7A1):c.5821-19A>T
|
|
|
NM_000094.4(COL7A1):c.5856+6T>A
|
|
|
NM_000094.4(COL7A1):c.5860T>C (p.Ser1954Pro)
|
|
|
NM_000094.4(COL7A1):c.5863G>A (p.Ala1955Thr)
|
rs2107676519
|
|
NM_000094.4(COL7A1):c.5906G>A (p.Ser1969Asn)
|
rs2107676353
|
|
NM_000094.4(COL7A1):c.5923G>A (p.Glu1975Lys)
|
|
|
NM_000094.4(COL7A1):c.5930G>A (p.Arg1977His)
|
|
|
NM_000094.4(COL7A1):c.5933G>C (p.Arg1978Pro)
|
rs754315799
|
|
NM_000094.4(COL7A1):c.5938C>T (p.Pro1980Ser)
|
|
|
NM_000094.4(COL7A1):c.593T>C (p.Val198Ala)
|
|
|
NM_000094.4(COL7A1):c.5947G>C (p.Asp1983His)
|
|
|
NM_000094.4(COL7A1):c.596A>G (p.Asn199Ser)
|
|
|
NM_000094.4(COL7A1):c.5984C>A (p.Pro1995His)
|
|
|
NM_000094.4(COL7A1):c.5989G>A (p.Gly1997Ser)
|
|
|
NM_000094.4(COL7A1):c.59G>A (p.Arg20Gln)
|
|
|
NM_000094.4(COL7A1):c.6016G>T (p.Gly2006Cys)
|
|
|
NM_000094.4(COL7A1):c.6019G>A (p.Asp2007Asn)
|
|
|
NM_000094.4(COL7A1):c.6028G>A (p.Asp2010Asn)
|
rs753702106
|
|
NM_000094.4(COL7A1):c.6050C>G (p.Pro2017Arg)
|
rs1402124316
|
|
NM_000094.4(COL7A1):c.6059C>A (p.Ala2020Asp)
|
|
|
NM_000094.4(COL7A1):c.6066G>T (p.Gly2022=)
|
rs2044230625
|
|
NM_000094.4(COL7A1):c.6074G>C (p.Gly2025Ala)
|
|
|
NM_000094.4(COL7A1):c.6079C>T (p.Pro2027Ser)
|
|
|
NM_000094.4(COL7A1):c.608T>G (p.Ile203Ser)
|
|
|
NM_000094.4(COL7A1):c.6101G>C (p.Gly2034Ala)
|
rs1057520530
|
|
NM_000094.4(COL7A1):c.6111_6119dup (p.Gly2040_Ile2041insLysProGly)
|
|
|
NM_000094.4(COL7A1):c.6121A>G (p.Ile2041Val)
|
rs2107674241
|
|
NM_000094.4(COL7A1):c.6140G>A (p.Arg2047Lys)
|
rs2107674107
|
|
NM_000094.4(COL7A1):c.614G>A (p.Arg205Lys)
|
|
|
NM_000094.4(COL7A1):c.6168G>T (p.Arg2056Ser)
|
|
|
NM_000094.4(COL7A1):c.6180+23A>T
|
rs1553854648
|
|
NM_000094.4(COL7A1):c.61G>A (p.Val21Met)
|
|
|
NM_000094.4(COL7A1):c.6216G>A (p.Gln2072=)
|
|
|
NM_000094.4(COL7A1):c.6217-3C>T
|
|
|
NM_000094.4(COL7A1):c.6218G>A (p.Gly2073Asp)
|
|
|
NM_000094.4(COL7A1):c.6232C>T (p.Pro2078Ser)
|
|
|
NM_000094.4(COL7A1):c.6245G>T (p.Gly2082Val)
|
rs2107671899
|
|
NM_000094.4(COL7A1):c.6248C>T (p.Thr2083Ile)
|
|
|
NM_000094.4(COL7A1):c.6264_6272del (p.2084PGP[2])
|
|
|
NM_000094.4(COL7A1):c.6265C>T (p.Pro2089Ser)
|
rs139920321
|
|
NM_000094.4(COL7A1):c.6266C>G (p.Pro2089Arg)
|
|
|
NM_000094.4(COL7A1):c.626C>T (p.Pro209Leu)
|
|
|
NM_000094.4(COL7A1):c.6274C>T (p.Pro2092Ser)
|
|
|
NM_000094.4(COL7A1):c.6275C>T (p.Pro2092Leu)
|
|
|
NM_000094.4(COL7A1):c.6286G>A (p.Val2096Met)
|
rs749388962
|
|
NM_000094.4(COL7A1):c.6311C>T (p.Ser2104Phe)
|
rs2107670348
|
|
NM_000094.4(COL7A1):c.6323G>A (p.Gly2108Glu)
|
|
|
NM_000094.4(COL7A1):c.6331G>A (p.Gly2111Arg)
|
|
|
NM_000094.4(COL7A1):c.6356C>T (p.Pro2119Leu)
|
|
|
NM_000094.4(COL7A1):c.6365A>G (p.Asn2122Ser)
|
|
|
NM_000094.4(COL7A1):c.6391A>G (p.Arg2131Gly)
|
|
|
NM_000094.4(COL7A1):c.6408C>G (p.Ile2136Met)
|
|
|
NM_000094.4(COL7A1):c.6413G>A (p.Gly2138Glu)
|
|
|
NM_000094.4(COL7A1):c.6424G>A (p.Glu2142Lys)
|
|
|
NM_000094.4(COL7A1):c.6449G>A (p.Gly2150Asp)
|
rs2107668597
|
|
NM_000094.4(COL7A1):c.6453C>A (p.Asn2151Lys)
|
rs747844780
|
|
NM_000094.4(COL7A1):c.6454C>T (p.Pro2152Ser)
|
rs780806207
|
|
NM_000094.4(COL7A1):c.6455C>T (p.Pro2152Leu)
|
|
|
NM_000094.4(COL7A1):c.6458G>A (p.Gly2153Asp)
|
|
|
NM_000094.4(COL7A1):c.6463C>T (p.Pro2155Ser)
|
|
|
NM_000094.4(COL7A1):c.6464C>T (p.Pro2155Leu)
|
rs2044139188
|
|
NM_000094.4(COL7A1):c.6469G>C (p.Glu2157Gln)
|
|
|
NM_000094.4(COL7A1):c.6472C>T (p.Arg2158Cys)
|
rs745851807
|
|
NM_000094.4(COL7A1):c.649A>G (p.Thr217Ala)
|
|
|
NM_000094.4(COL7A1):c.6509A>C (p.Gln2170Pro)
|
|
|
NM_000094.4(COL7A1):c.6515C>T (p.Pro2172Leu)
|
|
|
NM_000094.4(COL7A1):c.6527C>G (p.Pro2176Arg)
|
|
|
NM_000094.4(COL7A1):c.6573G>A (p.Pro2191=)
|
|
|
NM_000094.4(COL7A1):c.6587C>G (p.Pro2196Arg)
|
rs2107663318
|
|
NM_000094.4(COL7A1):c.6590C>T (p.Ala2197Val)
|
|
|
NM_000094.4(COL7A1):c.6595C>T (p.Pro2199Ser)
|
|
|
NM_000094.4(COL7A1):c.6641C>G (p.Pro2214Arg)
|
|
|
NM_000094.4(COL7A1):c.6643C>G (p.Pro2215Ala)
|
rs1489201304
|
|
NM_000094.4(COL7A1):c.6643C>T (p.Pro2215Ser)
|
rs1489201304
|
|
NM_000094.4(COL7A1):c.6644C>A (p.Pro2215Gln)
|
|
|
NM_000094.4(COL7A1):c.6662G>A (p.Gly2221Glu)
|
|
|
NM_000094.4(COL7A1):c.6691C>A (p.Pro2231Thr)
|
rs369838476
|
|
NM_000094.4(COL7A1):c.6700C>T (p.Pro2234Ser)
|
|
|
NM_000094.4(COL7A1):c.6713T>C (p.Val2238Ala)
|
|
|
NM_000094.4(COL7A1):c.671T>C (p.Val224Ala)
|
|
|
NM_000094.4(COL7A1):c.6727T>G (p.Ser2243Ala)
|
|
|
NM_000094.4(COL7A1):c.6751-3C>T
|
|
|
NM_000094.4(COL7A1):c.6751G>C (p.Gly2251Arg)
|
rs765034336
|
|
NM_000094.4(COL7A1):c.6761G>A (p.Gly2254Glu)
|
rs2107659875
|
|
NM_000094.4(COL7A1):c.6772G>A (p.Ala2258Thr)
|
|
|
NM_000094.4(COL7A1):c.6819C>A (p.Ser2273Arg)
|
|
|
NM_000094.4(COL7A1):c.6826G>A (p.Val2276Met)
|
rs2107659437
|
|
NM_000094.4(COL7A1):c.6828G>T (p.Val2276=)
|
|
|
NM_000094.4(COL7A1):c.682C>T (p.Pro228Ser)
|
|
|
NM_000094.4(COL7A1):c.6832-3T>A
|
rs1553853065
|
|
NM_000094.4(COL7A1):c.6832-3T>C
|
rs1553853065
|
|
NM_000094.4(COL7A1):c.6833G>A (p.Gly2278Glu)
|
|
|
NM_000094.4(COL7A1):c.6835_6846del (p.Ser2279_Leu2282del)
|
|
|
NM_000094.4(COL7A1):c.6838C>T (p.Pro2280Ser)
|
|
|
NM_000094.4(COL7A1):c.683C>A (p.Pro228Gln)
|
|
|
NM_000094.4(COL7A1):c.683C>T (p.Pro228Leu)
|
|
|
NM_000094.4(COL7A1):c.684G>A (p.Pro228=)
|
|
|
NM_000094.4(COL7A1):c.685G>C (p.Asp229His)
|
|
|
NM_000094.4(COL7A1):c.6861A>G (p.Gly2287=)
|
rs1315644130
|
|
NM_000094.4(COL7A1):c.6900+3G>A
|
|
|
NM_000094.4(COL7A1):c.6901-14_6901-13insCCCACAG
|
|
|
NM_000094.4(COL7A1):c.692C>T (p.Ser231Leu)
|
|
|
NM_000094.4(COL7A1):c.6932A>G (p.Glu2311Gly)
|
|
|
NM_000094.4(COL7A1):c.6936G>T (p.Lys2312Asn)
|
rs933384009
|
|
NM_000094.4(COL7A1):c.6972T>G (p.Gly2324=)
|
|
|
NM_000094.4(COL7A1):c.6976C>A (p.Pro2326Thr)
|
|
|
NM_000094.4(COL7A1):c.6977C>T (p.Pro2326Leu)
|
|
|
NM_000094.4(COL7A1):c.6978+6T>C
|
rs1223788979
|
|
NM_000094.4(COL7A1):c.6978G>A (p.Pro2326=)
|
|
|
NM_000094.4(COL7A1):c.6988G>A (p.Gly2330Ser)
|
|
|
NM_000094.4(COL7A1):c.7001T>A (p.Leu2334Gln)
|
|
|
NM_000094.4(COL7A1):c.7007G>A (p.Gly2336Glu)
|
rs2107655052
|
|
NM_000094.4(COL7A1):c.7013G>A (p.Arg2338Gln)
|
rs201011691
|
|
NM_000094.4(COL7A1):c.7018G>A (p.Glu2340Lys)
|
|
|
NM_000094.4(COL7A1):c.7029A>G (p.Glu2343=)
|
rs1185578654
|
|
NM_000094.4(COL7A1):c.7045G>A (p.Glu2349Lys)
|
|
|
NM_000094.4(COL7A1):c.7061G>A (p.Gly2354Glu)
|
rs2107654190
|
|
NM_000094.4(COL7A1):c.7069-13T>A
|
|
|
NM_000094.4(COL7A1):c.7069-3T>A
|
rs2043901711
|
|
NM_000094.4(COL7A1):c.7069-3T>G
|
rs2043901711
|
|
NM_000094.4(COL7A1):c.7090C>A (p.Pro2364Thr)
|
rs113813395
|
|
NM_000094.4(COL7A1):c.7090C>T (p.Pro2364Ser)
|
|
|
NM_000094.4(COL7A1):c.7105G>A (p.Gly2369Ser)
|
rs2107650142
|
|
NM_000094.4(COL7A1):c.711C>G (p.Asp237Glu)
|
|
|
NM_000094.4(COL7A1):c.7133C>T (p.Ser2378Phe)
|
|
|
NM_000094.4(COL7A1):c.7145C>G (p.Pro2382Arg)
|
|
|
NM_000094.4(COL7A1):c.7148G>A (p.Gly2383Asp)
|
|
|
NM_000094.4(COL7A1):c.7148G>C (p.Gly2383Ala)
|
|
|
NM_000094.4(COL7A1):c.7153C>T (p.Pro2385Ser)
|
|
|
NM_000094.4(COL7A1):c.7164+3A>G
|
|
|
NM_000094.4(COL7A1):c.7164G>A (p.Lys2388=)
|
|
|
NM_000094.4(COL7A1):c.7168G>T (p.Asp2390Tyr)
|
|
|
NM_000094.4(COL7A1):c.7169A>G (p.Asp2390Gly)
|
rs2107649138
|
|
NM_000094.4(COL7A1):c.7181C>G (p.Pro2394Arg)
|
|
|
NM_000094.4(COL7A1):c.7190C>T (p.Pro2397Leu)
|
|
|
NM_000094.4(COL7A1):c.71A>G (p.Gln24Arg)
|
|
|
NM_000094.4(COL7A1):c.7202G>C (p.Gly2401Ala)
|
rs1487726311
|
|
NM_000094.4(COL7A1):c.7205TTG[1] (p.Val2403del)
|
|
|
NM_000094.4(COL7A1):c.7215C>A (p.Phe2405Leu)
|
rs779587550
|
|
NM_000094.4(COL7A1):c.7215C>G (p.Phe2405Leu)
|
rs779587550
|
|
NM_000094.4(COL7A1):c.7223A>G (p.Gln2408Arg)
|
|
|
NM_000094.4(COL7A1):c.7235G>T (p.Arg2412Leu)
|
rs907836697
|
|
NM_000094.4(COL7A1):c.724G>A (p.Glu242Lys)
|
rs549872555
|
|
NM_000094.4(COL7A1):c.7256G>T (p.Gly2419Val)
|
|
|
NM_000094.4(COL7A1):c.7271G>A (p.Arg2424Gln)
|
|
|
NM_000094.4(COL7A1):c.7272+5G>A
|
rs2043871373
|
|
NM_000094.4(COL7A1):c.7280C>A (p.Ala2427Glu)
|
|
|
NM_000094.4(COL7A1):c.7295G>A (p.Arg2432Lys)
|
|
|
NM_000094.4(COL7A1):c.7313C>A (p.Pro2438His)
|
|
|
NM_000094.4(COL7A1):c.734G>T (p.Ser245Ile)
|
|
|
NM_000094.4(COL7A1):c.7363G>A (p.Gly2455Arg)
|
|
|
NM_000094.4(COL7A1):c.7378A>C (p.Lys2460Gln)
|
|
|
NM_000094.4(COL7A1):c.7381-18T>A
|
|
|
NM_000094.4(COL7A1):c.7381-20G>A
|
|
|
NM_000094.4(COL7A1):c.7381-8G>T
|
|
|
NM_000094.4(COL7A1):c.7403C>G (p.Pro2468Arg)
|
|
|
NM_000094.4(COL7A1):c.740C>A (p.Ser247Tyr)
|
rs770500830
|
|
NM_000094.4(COL7A1):c.7412G>A (p.Arg2471Gln)
|
rs369221071
|
|
NM_000094.4(COL7A1):c.7438C>T (p.Arg2480Trp)
|
|
|
NM_000094.4(COL7A1):c.7439G>A (p.Arg2480Gln)
|
|
|
NM_000094.4(COL7A1):c.7440+5G>A
|
|
|
NM_000094.4(COL7A1):c.744G>C (p.Leu248Phe)
|
|
|
NM_000094.4(COL7A1):c.7453C>T (p.Arg2485Cys)
|
|
|
NM_000094.4(COL7A1):c.7454G>A (p.Arg2485His)
|
|
|
NM_000094.4(COL7A1):c.7457C>G (p.Pro2486Arg)
|
|
|
NM_000094.4(COL7A1):c.7466A>C (p.Glu2489Ala)
|
rs2107644797
|
|
NM_000094.4(COL7A1):c.7474C>G (p.Arg2492Gly)
|
|
|
NM_000094.4(COL7A1):c.7475G>A (p.Arg2492Gln)
|
|
|
NM_000094.4(COL7A1):c.7507G>A (p.Glu2503Lys)
|
|
|
NM_000094.4(COL7A1):c.7507G>C (p.Glu2503Gln)
|
|
|
NM_000094.4(COL7A1):c.7511G>A (p.Arg2504His)
|
|
|
NM_000094.4(COL7A1):c.7511G>T (p.Arg2504Leu)
|
|
|
NM_000094.4(COL7A1):c.7521G>A (p.Lys2507=)
|
|
|
NM_000094.4(COL7A1):c.7522-11_7522-10del
|
|
|
NM_000094.4(COL7A1):c.7522-4A>G
|
|
|
NM_000094.4(COL7A1):c.7522-7C>A
|
|
|
NM_000094.4(COL7A1):c.7594C>T (p.Arg2532Trp)
|
|
|
NM_000094.4(COL7A1):c.7613T>C (p.Met2538Thr)
|
|
|
NM_000094.4(COL7A1):c.7614+6T>C
|
|
|
NM_000094.4(COL7A1):c.7614G>A (p.Met2538Ile)
|
|
|
NM_000094.4(COL7A1):c.7615-5C>G
|
|
|
NM_000094.4(COL7A1):c.7619A>G (p.Glu2540Gly)
|
|
|
NM_000094.4(COL7A1):c.7620_7646del (p.Glu2540_Gly2548del)
|
|
|
NM_000094.4(COL7A1):c.7622G>A (p.Arg2541Gln)
|
|
|
NM_000094.4(COL7A1):c.7627C>T (p.Pro2543Ser)
|
rs2043774045
|
|
NM_000094.4(COL7A1):c.7636T>A (p.Leu2546Met)
|
|
|
NM_000094.4(COL7A1):c.764C>T (p.Ala255Val)
|
|
|
NM_000094.4(COL7A1):c.7657C>T (p.Arg2553Trp)
|
|
|
NM_000094.4(COL7A1):c.7658G>A (p.Arg2553Gln)
|
|
|
NM_000094.4(COL7A1):c.7663G>A (p.Asp2555Asn)
|
|
|
NM_000094.4(COL7A1):c.7676C>T (p.Pro2559Leu)
|
rs2043771641
|
|
NM_000094.4(COL7A1):c.767G>A (p.Ser256Asn)
|
|
|
NM_000094.4(COL7A1):c.7683C>A (p.Asp2561Glu)
|
|
|
NM_000094.4(COL7A1):c.7686+13G>A
|
|
|
NM_000094.4(COL7A1):c.7690A>G (p.Ser2564Gly)
|
rs2107639863
|
|
NM_000094.4(COL7A1):c.7694A>G (p.Lys2565Arg)
|
|
|
NM_000094.4(COL7A1):c.76A>G (p.Arg26Gly)
|
rs923284415
|
|
NM_000094.4(COL7A1):c.7711A>G (p.Lys2571Glu)
|
|
|
NM_000094.4(COL7A1):c.7728G>T (p.Leu2576Phe)
|
|
|
NM_000094.4(COL7A1):c.7792C>T (p.Pro2598Ser)
|
rs2107638447
|
|
NM_000094.4(COL7A1):c.7795-9C>G
|
|
|
NM_000094.4(COL7A1):c.7846G>A (p.Val2616Ile)
|
|
|
NM_000094.4(COL7A1):c.7875+4G>A
|
|
|
NM_000094.4(COL7A1):c.7883G>A (p.Arg2628Gln)
|
|
|
NM_000094.4(COL7A1):c.7901G>C (p.Cys2634Ser)
|
|
|
NM_000094.4(COL7A1):c.7918A>G (p.Lys2640Glu)
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NM_000094.4(COL7A1):c.7929+5A>G
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NM_000094.4(COL7A1):c.7951C>T (p.Arg2651Cys)
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NM_000094.4(COL7A1):c.7952G>A (p.Arg2651His)
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NM_000094.4(COL7A1):c.7964C>T (p.Ala2655Val)
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NM_000094.4(COL7A1):c.7972A>C (p.Lys2658Gln)
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NM_000094.4(COL7A1):c.7975G>A (p.Gly2659Arg)
|
rs2107635664
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NM_000094.4(COL7A1):c.7978G>C (p.Glu2660Gln)
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NM_000094.4(COL7A1):c.7983G>A (p.Met2661Ile)
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NM_000094.4(COL7A1):c.7994G>C (p.Gly2665Ala)
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NM_000094.4(COL7A1):c.8003G>C (p.Gly2668Ala)
|
rs539565729
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NM_000094.4(COL7A1):c.8009C>T (p.Ser2670Leu)
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NM_000094.4(COL7A1):c.8015C>G (p.Ala2672Gly)
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NM_000094.4(COL7A1):c.8017C>G (p.Pro2673Ala)
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NM_000094.4(COL7A1):c.8018C>T (p.Pro2673Leu)
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NM_000094.4(COL7A1):c.8046+8G>T
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NM_000094.4(COL7A1):c.8054G>A (p.Arg2685Gln)
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NM_000094.4(COL7A1):c.806T>C (p.Leu269Pro)
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NM_000094.4(COL7A1):c.8078C>T (p.Pro2693Leu)
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NM_000094.4(COL7A1):c.8082G>C (p.Lys2694Asn)
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NM_000094.4(COL7A1):c.8084G>T (p.Gly2695Val)
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NM_000094.4(COL7A1):c.80A>G (p.Glu27Gly)
|
rs2107811799
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NM_000094.4(COL7A1):c.8109+3G>A
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NM_000094.4(COL7A1):c.8109G>A (p.Arg2703=)
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NM_000094.4(COL7A1):c.8126G>C (p.Gly2709Ala)
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NM_000094.4(COL7A1):c.812G>A (p.Gly271Glu)
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NM_000094.4(COL7A1):c.8140C>A (p.Pro2714Thr)
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NM_000094.4(COL7A1):c.8158T>C (p.Ser2720Pro)
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NM_000094.4(COL7A1):c.8159C>T (p.Ser2720Phe)
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|
NM_000094.4(COL7A1):c.8227-3C>T
|
rs761592627
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NM_000094.4(COL7A1):c.8239C>T (p.Pro2747Ser)
|
rs1218556461
|
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NM_000094.4(COL7A1):c.8263G>A (p.Ala2755Thr)
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NM_000094.4(COL7A1):c.8266C>T (p.Pro2756Ser)
|
rs755546809
|
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NM_000094.4(COL7A1):c.8305-3T>C
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NM_000094.4(COL7A1):c.8305G>C (p.Gly2769Arg)
|
rs1266365479
|
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NM_000094.4(COL7A1):c.8330G>A (p.Arg2777Gln)
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|
NM_000094.4(COL7A1):c.8348C>G (p.Ala2783Gly)
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NM_000094.4(COL7A1):c.8357C>T (p.Thr2786Met)
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NM_000094.4(COL7A1):c.8358+3G>A
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NM_000094.4(COL7A1):c.8358+5G>T
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NM_000094.4(COL7A1):c.8358G>A (p.Thr2786=)
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|
NM_000094.4(COL7A1):c.8383C>T (p.Arg2795Cys)
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|
NM_000094.4(COL7A1):c.8392A>G (p.Met2798Val)
|
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|
NM_000094.4(COL7A1):c.8394G>A (p.Met2798Ile)
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|
|
NM_000094.4(COL7A1):c.8405G>C (p.Cys2802Ser)
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|
NM_000094.4(COL7A1):c.8415G>C (p.Gln2805His)
|
rs778068500
|
|
NM_000094.4(COL7A1):c.8443C>T (p.Pro2815Ser)
|
|
|
NM_000094.4(COL7A1):c.8446C>T (p.Leu2816Phe)
|
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|
NM_000094.4(COL7A1):c.8450C>T (p.Pro2817Leu)
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|
NM_000094.4(COL7A1):c.8471C>T (p.Ala2824Val)
|
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|
NM_000094.4(COL7A1):c.8473G>C (p.Gly2825Arg)
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NM_000094.4(COL7A1):c.8482C>T (p.Leu2828Phe)
|
|
|
NM_000094.4(COL7A1):c.8498T>C (p.Val2833Ala)
|
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|
NM_000094.4(COL7A1):c.8498T>G (p.Val2833Gly)
|
rs1360820174
|
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NM_000094.4(COL7A1):c.84A>G (p.Arg28=)
|
rs1559444716
|
|
NM_000094.4(COL7A1):c.8510C>T (p.Ser2837Phe)
|
|
|
NM_000094.4(COL7A1):c.8531G>A (p.Arg2844Gln)
|
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|
NM_000094.4(COL7A1):c.8536C>A (p.Pro2846Thr)
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|
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser)
|
rs140041143
|
|
NM_000094.4(COL7A1):c.8542G>A (p.Glu2848Lys)
|
rs2107626662
|
|
NM_000094.4(COL7A1):c.856C>A (p.Pro286Thr)
|
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|
NM_000094.4(COL7A1):c.8575T>G (p.Ser2859Ala)
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NM_000094.4(COL7A1):c.8581G>C (p.Glu2861Gln)
|
|
|
NM_000094.4(COL7A1):c.85G>C (p.Val29Leu)
|
rs2107811679
|
|
NM_000094.4(COL7A1):c.8610G>C (p.Trp2870Cys)
|
|
|
NM_000094.4(COL7A1):c.8612A>G (p.Asp2871Gly)
|
|
|
NM_000094.4(COL7A1):c.862G>A (p.Gly288Ser)
|
rs747720093
|
|
NM_000094.4(COL7A1):c.8647G>A (p.Gly2883Ser)
|
|
|
NM_000094.4(COL7A1):c.8657C>T (p.Thr2886Ile)
|
rs2107625632
|
|
NM_000094.4(COL7A1):c.8662_8667del (p.Tyr2888_Thr2889del)
|
|
|
NM_000094.4(COL7A1):c.8666C>T (p.Thr2889Ile)
|
|
|
NM_000094.4(COL7A1):c.8671C>T (p.Arg2891Cys)
|
|
|
NM_000094.4(COL7A1):c.8684G>C (p.Arg2895Pro)
|
rs147911102
|
|
NM_000094.4(COL7A1):c.869C>A (p.Thr290Asn)
|
|
|
NM_000094.4(COL7A1):c.8716C>G (p.Pro2906Ala)
|
|
|
NM_000094.4(COL7A1):c.8726A>G (p.Tyr2909Cys)
|
rs139416916
|
|
NM_000094.4(COL7A1):c.8729G>T (p.Gly2910Val)
|
rs1242922135
|
|
NM_000094.4(COL7A1):c.8732G>A (p.Gly2911Asp)
|
|
|
NM_000094.4(COL7A1):c.873T>A (p.Ser291Arg)
|
rs2107795279
|
|
NM_000094.4(COL7A1):c.8747C>T (p.Ala2916Val)
|
|
|
NM_000094.4(COL7A1):c.8749A>G (p.Asn2917Asp)
|
|
|
NM_000094.4(COL7A1):c.8752C>T (p.Arg2918Cys)
|
|
|
NM_000094.4(COL7A1):c.8756T>C (p.Phe2919Ser)
|
|
|
NM_000094.4(COL7A1):c.8759G>A (p.Gly2920Glu)
|
|
|
NM_000094.4(COL7A1):c.8761A>G (p.Thr2921Ala)
|
|
|
NM_000094.4(COL7A1):c.8770G>A (p.Ala2924Thr)
|
|
|
NM_000094.4(COL7A1):c.8777A>T (p.Glu2926Val)
|
|
|
NM_000094.4(COL7A1):c.8782C>T (p.Arg2928Cys)
|
|
|
NM_000094.4(COL7A1):c.8797G>C (p.Val2933Leu)
|
|
|
NM_000094.4(COL7A1):c.8807G>T (p.Ser2936Ile)
|
|
|
NM_000094.4(COL7A1):c.8809C>G (p.Gln2937Glu)
|
|
|
NM_000094.4(COL7A1):c.8818+2T>A
|
rs1171778175
|
|
NM_000094.4(COL7A1):c.8818+4T>G
|
|
|
NM_000094.4(COL7A1):c.892C>T (p.Arg298Trp)
|
|
|
NM_000094.4(COL7A1):c.913G>A (p.Val305Met)
|
|
|
NM_000094.4(COL7A1):c.926C>T (p.Ala309Val)
|
|
|
NM_000094.4(COL7A1):c.932A>G (p.Tyr311Cys)
|
|
|
NM_000094.4(COL7A1):c.940A>C (p.Ser314Arg)
|
|
|
NM_000094.4(COL7A1):c.941G>T (p.Ser314Ile)
|
rs1025287667
|
|
NM_000094.4(COL7A1):c.955G>A (p.Val319Met)
|
|
|
NM_000094.4(COL7A1):c.95C>A (p.Thr32Lys)
|
|
|
NM_000094.4(COL7A1):c.95C>T (p.Thr32Met)
|
|
|
NM_000094.4(COL7A1):c.971G>C (p.Arg324Pro)
|
rs371939692
|
|
NM_000094.4(COL7A1):c.974C>T (p.Thr325Ile)
|
|
|
NM_000094.4(COL7A1):c.977-3C>T
|
|
|
NM_000094.4(COL7A1):c.998T>C (p.Leu333Pro)
|
rs2107793377
|
|