ClinVar Miner

List of variants in gene COL7A1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 896
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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)
NM_000094.4(COL7A1):c.7929+5A>G
NM_000094.4(COL7A1):c.7951C>T (p.Arg2651Cys)
NM_000094.4(COL7A1):c.7952G>A (p.Arg2651His)
NM_000094.4(COL7A1):c.7964C>T (p.Ala2655Val)
NM_000094.4(COL7A1):c.7972A>C (p.Lys2658Gln)
NM_000094.4(COL7A1):c.7975G>A (p.Gly2659Arg) rs2107635664
NM_000094.4(COL7A1):c.7978G>C (p.Glu2660Gln)
NM_000094.4(COL7A1):c.7983G>A (p.Met2661Ile)
NM_000094.4(COL7A1):c.7994G>C (p.Gly2665Ala)
NM_000094.4(COL7A1):c.8003G>C (p.Gly2668Ala) rs539565729
NM_000094.4(COL7A1):c.8009C>T (p.Ser2670Leu)
NM_000094.4(COL7A1):c.8015C>G (p.Ala2672Gly)
NM_000094.4(COL7A1):c.8017C>G (p.Pro2673Ala)
NM_000094.4(COL7A1):c.8018C>T (p.Pro2673Leu)
NM_000094.4(COL7A1):c.8046+8G>T
NM_000094.4(COL7A1):c.8054G>A (p.Arg2685Gln)
NM_000094.4(COL7A1):c.806T>C (p.Leu269Pro)
NM_000094.4(COL7A1):c.8078C>T (p.Pro2693Leu)
NM_000094.4(COL7A1):c.8082G>C (p.Lys2694Asn)
NM_000094.4(COL7A1):c.8084G>T (p.Gly2695Val)
NM_000094.4(COL7A1):c.80A>G (p.Glu27Gly) rs2107811799
NM_000094.4(COL7A1):c.8109+3G>A
NM_000094.4(COL7A1):c.8109G>A (p.Arg2703=)
NM_000094.4(COL7A1):c.8126G>C (p.Gly2709Ala)
NM_000094.4(COL7A1):c.812G>A (p.Gly271Glu)
NM_000094.4(COL7A1):c.8140C>A (p.Pro2714Thr)
NM_000094.4(COL7A1):c.8158T>C (p.Ser2720Pro)
NM_000094.4(COL7A1):c.8159C>T (p.Ser2720Phe)
NM_000094.4(COL7A1):c.8227-3C>T rs761592627
NM_000094.4(COL7A1):c.8239C>T (p.Pro2747Ser) rs1218556461
NM_000094.4(COL7A1):c.8263G>A (p.Ala2755Thr)
NM_000094.4(COL7A1):c.8266C>T (p.Pro2756Ser) rs755546809
NM_000094.4(COL7A1):c.8305-3T>C
NM_000094.4(COL7A1):c.8305G>C (p.Gly2769Arg) rs1266365479
NM_000094.4(COL7A1):c.8330G>A (p.Arg2777Gln)
NM_000094.4(COL7A1):c.8348C>G (p.Ala2783Gly)
NM_000094.4(COL7A1):c.8357C>T (p.Thr2786Met)
NM_000094.4(COL7A1):c.8358+3G>A
NM_000094.4(COL7A1):c.8358+5G>T
NM_000094.4(COL7A1):c.8358G>A (p.Thr2786=)
NM_000094.4(COL7A1):c.8383C>T (p.Arg2795Cys)
NM_000094.4(COL7A1):c.8392A>G (p.Met2798Val)
NM_000094.4(COL7A1):c.8394G>A (p.Met2798Ile)
NM_000094.4(COL7A1):c.8405G>C (p.Cys2802Ser)
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)
NM_000094.4(COL7A1):c.8450C>T (p.Pro2817Leu)
NM_000094.4(COL7A1):c.8471C>T (p.Ala2824Val)
NM_000094.4(COL7A1):c.8473G>C (p.Gly2825Arg)
NM_000094.4(COL7A1):c.8482C>T (p.Leu2828Phe)
NM_000094.4(COL7A1):c.8498T>C (p.Val2833Ala)
NM_000094.4(COL7A1):c.8498T>G (p.Val2833Gly) rs1360820174
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)
NM_000094.4(COL7A1):c.8536C>A (p.Pro2846Thr)
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)
NM_000094.4(COL7A1):c.8575T>G (p.Ser2859Ala)
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.