ClinVar Miner

List of variants in gene COL7A1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1360
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=) rs61729223 0.01181
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000094.4(COL7A1):c.5259C>T (p.Pro1753=) rs151261530 0.00267
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His) rs149011081 0.00166
NM_000094.4(COL7A1):c.1613G>A (p.Arg538His) rs138791004 0.00138
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=) rs139521707 0.00121
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.8568C>T (p.Ser2856=) rs148454724 0.00093
NM_000094.4(COL7A1):c.8530C>T (p.Arg2844Trp) rs138002006 0.00089
NM_000094.4(COL7A1):c.7353T>C (p.Pro2451=) rs139461888 0.00077
NM_000094.4(COL7A1):c.2010C>T (p.Gly670=) rs74861804 0.00068
NM_000094.4(COL7A1):c.13C>G (p.Leu5Val) rs201242396 0.00063
NM_000094.4(COL7A1):c.5217T>A (p.Pro1739=) rs147611409 0.00061
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu) rs143221297 0.00061
NM_000094.4(COL7A1):c.5343C>T (p.Ser1781=) rs147919436 0.00057
NM_000094.4(COL7A1):c.8504G>A (p.Arg2835His) rs139014122 0.00057
NM_000094.4(COL7A1):c.4818+11G>A rs199647542 0.00056
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=) rs150776274 0.00055
NM_000094.4(COL7A1):c.6279+4A>T rs370622769 0.00054
NM_000094.4(COL7A1):c.810G>A (p.Thr270=) rs138770708 0.00052
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys) rs147633212 0.00050
NM_000094.4(COL7A1):c.5769G>A (p.Glu1923=) rs143843471 0.00046
NM_000094.4(COL7A1):c.3140-4A>T rs201656230 0.00045
NM_000094.4(COL7A1):c.4636G>C (p.Gly1546Arg) rs73831831 0.00045
NM_000094.4(COL7A1):c.592G>A (p.Val198Ile) rs147177277 0.00044
NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg) rs139622306 0.00043
NM_000094.4(COL7A1):c.2544C>T (p.Val848=) rs139545952 0.00041
NM_000094.4(COL7A1):c.1411T>C (p.Leu471=) rs139564795 0.00039
NM_000094.4(COL7A1):c.2106C>T (p.Val702=) rs75551775 0.00039
NM_000094.4(COL7A1):c.4120-9C>A rs199914077 0.00038
NM_000094.4(COL7A1):c.5930G>T (p.Arg1977Leu) rs182669506 0.00038
NM_000094.4(COL7A1):c.5956G>A (p.Glu1986Lys) rs144208360 0.00035
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys) rs144557024 0.00034
NM_000094.4(COL7A1):c.8541T>C (p.Pro2847=) rs79473918 0.00034
NM_000094.4(COL7A1):c.2993-13C>G rs371738291 0.00032
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His) rs146934952 0.00031
NM_000094.4(COL7A1):c.6400C>T (p.Pro2134Ser) rs148638156 0.00031
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile) rs142568125 0.00030
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys) rs139434755 0.00026
NM_000094.4(COL7A1):c.2997G>A (p.Val999=) rs369633742 0.00026
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp) rs142059751 0.00026
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met) rs376090628 0.00025
NM_000094.4(COL7A1):c.4636-3C>T rs200981821 0.00024
NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys) rs199819125 0.00024
NM_000094.4(COL7A1):c.8240C>T (p.Pro2747Leu) rs139566877 0.00023
NM_000094.4(COL7A1):c.1241-4G>A rs201605314 0.00021
NM_000094.4(COL7A1):c.4508C>T (p.Ala1503Val) rs150332158 0.00021
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.1043G>A (p.Arg348Gln) rs200570283 0.00020
NM_000094.4(COL7A1):c.3107G>A (p.Arg1036Gln) rs150873722 0.00020
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.7422T>C (p.Arg2474=) rs146250538 0.00019
NM_000094.4(COL7A1):c.7758+10G>A rs371927547 0.00019
NM_000094.4(COL7A1):c.1495G>A (p.Val499Met) rs201877942 0.00018
NM_000094.4(COL7A1):c.2146A>G (p.Arg716Gly) rs143040168 0.00018
NM_000094.4(COL7A1):c.6502-10C>G rs200193957 0.00018
NM_000094.4(COL7A1):c.7615-6A>T rs777157837 0.00017
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr) rs143352280 0.00016
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000094.4(COL7A1):c.7416C>T (p.Gly2472=) rs142651194 0.00016
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu) rs200138839 0.00016
NM_000094.4(COL7A1):c.2662G>C (p.Glu888Gln) rs200523730 0.00015
NM_000094.4(COL7A1):c.3724-6C>T rs370390884 0.00015
NM_000094.4(COL7A1):c.59G>C (p.Arg20Pro) rs755340663 0.00015
NM_000094.4(COL7A1):c.630C>T (p.Leu210=) rs117857033 0.00015
NM_000094.4(COL7A1):c.3840C>T (p.Thr1280=) rs369839378 0.00014
NM_000094.4(COL7A1):c.5052+15A>G rs377568216 0.00014
NM_000094.4(COL7A1):c.7217C>T (p.Pro2406Leu) rs144788938 0.00014
NM_000094.4(COL7A1):c.7510C>T (p.Arg2504Cys) rs201897441 0.00014
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=) rs144756110 0.00013
NM_000094.4(COL7A1):c.5798G>A (p.Arg1933Gln) rs201722048 0.00013
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.5271+8A>G rs369192298 0.00012
NM_000094.4(COL7A1):c.1910C>T (p.Pro637Leu) rs199967174 0.00011
NM_000094.4(COL7A1):c.3232C>T (p.Arg1078Cys) rs149154108 0.00011
NM_000094.4(COL7A1):c.3760-10C>G rs200169440 0.00011
NM_000094.4(COL7A1):c.4069G>A (p.Gly1357Arg) rs200741847 0.00011
NM_000094.4(COL7A1):c.4859G>A (p.Arg1620Gln) rs373682717 0.00011
NM_000094.4(COL7A1):c.4889G>A (p.Arg1630Gln) rs201196696 0.00011
NM_000094.4(COL7A1):c.2392G>A (p.Gly798Arg) rs202237834 0.00010
NM_000094.4(COL7A1):c.2969G>A (p.Arg990Gln) rs568498471 0.00010
NM_000094.4(COL7A1):c.4118C>T (p.Ser1373Leu) rs140403507 0.00010
NM_000094.4(COL7A1):c.4485C>T (p.Gly1495=) rs367958901 0.00010
NM_000094.4(COL7A1):c.4923C>T (p.Asp1641=) rs202165842 0.00010
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp) rs147285396 0.00010
NM_000094.4(COL7A1):c.520+9C>T rs368959634 0.00010
NM_000094.4(COL7A1):c.543G>A (p.Glu181=) rs372458548 0.00010
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000094.4(COL7A1):c.6081C>T (p.Pro2027=) rs375047225 0.00010
NM_000094.4(COL7A1):c.8095G>A (p.Glu2699Lys) rs200938473 0.00010
NM_000094.4(COL7A1):c.215C>A (p.Ala72Asp) rs138319290 0.00009
NM_000094.4(COL7A1):c.2742C>T (p.Pro914=) rs140193653 0.00009
NM_000094.4(COL7A1):c.3343G>C (p.Gly1115Arg) rs200235451 0.00009
NM_000094.4(COL7A1):c.4135C>T (p.Arg1379Cys) rs200802373 0.00009
NM_000094.4(COL7A1):c.5548C>T (p.Pro1850Ser) rs761604061 0.00009
NM_000094.4(COL7A1):c.5605-15C>T rs200309694 0.00009
NM_000094.4(COL7A1):c.6388G>A (p.Asp2130Asn) rs375909549 0.00009
NM_000094.4(COL7A1):c.6394-9T>C rs374698863 0.00009
NM_000094.4(COL7A1):c.6572C>T (p.Pro2191Leu) rs140543032 0.00009
NM_000094.4(COL7A1):c.7674C>T (p.Asp2558=) rs201140493 0.00009
NM_000094.4(COL7A1):c.8037C>T (p.Ile2679=) rs112974441 0.00009
NM_000094.4(COL7A1):c.1604C>A (p.Thr535Asn) rs200868430 0.00008
NM_000094.4(COL7A1):c.4944G>A (p.Pro1648=) rs111360822 0.00008
NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg) rs143037856 0.00008
NM_000094.4(COL7A1):c.5726C>T (p.Thr1909Met) rs201719223 0.00008
NM_000094.4(COL7A1):c.653C>T (p.Thr218Ile) rs202113569 0.00008
NM_000094.4(COL7A1):c.7037G>A (p.Arg2346His) rs201432371 0.00008
NM_000094.4(COL7A1):c.7380+8G>A rs560853464 0.00008
NM_000094.4(COL7A1):c.8779C>T (p.Arg2927Cys) rs150635097 0.00008
NM_000094.4(COL7A1):c.1268C>T (p.Pro423Leu) rs147947287 0.00007
NM_000094.4(COL7A1):c.1507+10C>T rs537188035 0.00007
NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser) rs148291967 0.00007
NM_000094.4(COL7A1):c.4000C>T (p.Arg1334Cys) rs141720633 0.00007
NM_000094.4(COL7A1):c.6435G>A (p.Pro2145=) rs143458723 0.00007
NM_000094.4(COL7A1):c.8007G>C (p.Gln2669His) rs369881673 0.00007
NM_000094.4(COL7A1):c.1070G>A (p.Arg357His) rs368155479 0.00006
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.1721G>A (p.Arg574Gln) rs201557549 0.00006
NM_000094.4(COL7A1):c.2431C>T (p.Arg811Trp) rs551951844 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.4210G>A (p.Asp1404Asn) rs146659822 0.00006
NM_000094.4(COL7A1):c.4287C>T (p.Pro1429=) rs749814590 0.00006
NM_000094.4(COL7A1):c.447C>T (p.Asp149=) rs372585819 0.00006
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=) rs142686837 0.00006
NM_000094.4(COL7A1):c.4666A>G (p.Lys1556Glu) rs777472432 0.00006
NM_000094.4(COL7A1):c.4720C>T (p.Arg1574Trp) rs773815805 0.00006
NM_000094.4(COL7A1):c.5368G>A (p.Ala1790Thr) rs780506505 0.00006
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=) rs779298653 0.00006
NM_000094.4(COL7A1):c.6021C>A (p.Asp2007Glu) rs199603961 0.00006
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala) rs372838887 0.00006
NM_000094.4(COL7A1):c.7036C>T (p.Arg2346Cys) rs145729761 0.00006
NM_000094.4(COL7A1):c.761C>T (p.Ala254Val) rs201916805 0.00006
NM_000094.4(COL7A1):c.8064C>T (p.Asp2688=) rs546054756 0.00006
NM_000094.4(COL7A1):c.893G>A (p.Arg298Gln) rs200892831 0.00006
NM_000094.4(COL7A1):c.1062T>C (p.Thr354=) rs201697063 0.00005
NM_000094.4(COL7A1):c.1345C>T (p.Arg449Trp) rs371991224 0.00005
NM_000094.4(COL7A1):c.1402C>T (p.Arg468Cys) rs371154736 0.00005
NM_000094.4(COL7A1):c.1428G>A (p.Pro476=) rs138330564 0.00005
NM_000094.4(COL7A1):c.314G>A (p.Arg105His) rs370534336 0.00005
NM_000094.4(COL7A1):c.3158C>T (p.Ala1053Val) rs574853557 0.00005
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=) rs146903823 0.00005
NM_000094.4(COL7A1):c.4012-9C>T rs763087515 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.5384C>T (p.Pro1795Leu) rs746987799 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.7050C>T (p.Pro2350=) rs773855741 0.00005
NM_000094.4(COL7A1):c.7120G>A (p.Gly2374Arg) rs181430415 0.00005
NM_000094.4(COL7A1):c.7794G>A (p.Pro2598=) rs377067446 0.00005
NM_000094.4(COL7A1):c.8428G>A (p.Ala2810Thr) rs143995717 0.00005
NM_000094.4(COL7A1):c.8803C>T (p.Gln2935Ter) rs767051948 0.00005
NM_000094.4(COL7A1):c.1167G>A (p.Thr389=) rs377732069 0.00004
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys) rs142108058 0.00004
NM_000094.4(COL7A1):c.1468G>A (p.Gly490Ser) rs143372872 0.00004
NM_000094.4(COL7A1):c.1473C>T (p.His491=) rs201847088 0.00004
NM_000094.4(COL7A1):c.1625G>A (p.Arg542His) rs143991798 0.00004
NM_000094.4(COL7A1):c.1777C>T (p.Arg593Trp) rs202239292 0.00004
NM_000094.4(COL7A1):c.2503G>A (p.Glu835Lys) rs748398314 0.00004
NM_000094.4(COL7A1):c.3203G>A (p.Arg1068His) rs753761607 0.00004
NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=) rs548139799 0.00004
NM_000094.4(COL7A1):c.3412G>A (p.Val1138Met) rs145048666 0.00004
NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His) rs558424479 0.00004
NM_000094.4(COL7A1):c.3932G>C (p.Gly1311Ala) rs746075630 0.00004
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser) rs200290149 0.00004
NM_000094.4(COL7A1):c.427-14T>C rs552110604 0.00004
NM_000094.4(COL7A1):c.4274T>C (p.Leu1425Pro) rs745975162 0.00004
NM_000094.4(COL7A1):c.4391C>T (p.Pro1464Leu) rs763147984 0.00004
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln) rs570707807 0.00004
NM_000094.4(COL7A1):c.4509G>A (p.Ala1503=) rs748294033 0.00004
NM_000094.4(COL7A1):c.4561G>C (p.Glu1521Gln) rs373745858 0.00004
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=) rs573530168 0.00004
NM_000094.4(COL7A1):c.5097G>A (p.Pro1699=) rs369034739 0.00004
NM_000094.4(COL7A1):c.5132C>T (p.Thr1711Ile) rs771521596 0.00004
NM_000094.4(COL7A1):c.5736+9G>A rs777097228 0.00004
NM_000094.4(COL7A1):c.5772+10C>T rs368195728 0.00004
NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys) rs765130674 0.00004
NM_000094.4(COL7A1):c.6216+9C>T rs200855943 0.00004
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His) rs138626345 0.00004
NM_000094.4(COL7A1):c.663C>T (p.Gly221=) rs367607652 0.00004
NM_000094.4(COL7A1):c.7048C>T (p.Pro2350Ser) rs749870307 0.00004
NM_000094.4(COL7A1):c.7689C>T (p.Gly2563=) rs779995041 0.00004
NM_000094.4(COL7A1):c.8000C>T (p.Pro2667Leu) rs377015274 0.00004
NM_000094.4(COL7A1):c.8177C>T (p.Pro2726Leu) rs372495014 0.00004
NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys) rs779942952 0.00004
NM_000094.4(COL7A1):c.8290G>A (p.Glu2764Lys) rs141883531 0.00004
NM_000094.4(COL7A1):c.8401C>T (p.His2801Tyr) rs375653257 0.00004
NM_000094.4(COL7A1):c.8473G>A (p.Gly2825Ser) rs139308059 0.00004
NM_000094.4(COL7A1):c.1186A>T (p.Ser396Cys) rs202192755 0.00003
NM_000094.4(COL7A1):c.1202G>T (p.Arg401Leu) rs757929353 0.00003
NM_000094.4(COL7A1):c.1370C>T (p.Pro457Leu) rs200396882 0.00003
NM_000094.4(COL7A1):c.1624C>T (p.Arg542Cys) rs780602305 0.00003
NM_000094.4(COL7A1):c.1936G>C (p.Asp646His) rs765663530 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.2100A>C (p.Ser700=) rs756201098 0.00003
NM_000094.4(COL7A1):c.2587C>T (p.Pro863Ser) rs757643340 0.00003
NM_000094.4(COL7A1):c.2887C>T (p.Arg963Cys) rs773083989 0.00003
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile) rs562548943 0.00003
NM_000094.4(COL7A1):c.3841G>A (p.Gly1281Ser) rs569641113 0.00003
NM_000094.4(COL7A1):c.3999T>C (p.Pro1333=) rs756134134 0.00003
NM_000094.4(COL7A1):c.4329G>T (p.Lys1443Asn) rs752495777 0.00003
NM_000094.4(COL7A1):c.4782+9A>T rs369635501 0.00003
NM_000094.4(COL7A1):c.4996C>T (p.Arg1666Trp) rs764442838 0.00003
NM_000094.4(COL7A1):c.5605-14T>C rs749961187 0.00003
NM_000094.4(COL7A1):c.5772+11C>T rs375161918 0.00003
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=) rs761393259 0.00003
NM_000094.4(COL7A1):c.6293A>C (p.Glu2098Ala) rs886058635 0.00003
NM_000094.4(COL7A1):c.638G>A (p.Arg213Gln) rs62261469 0.00003
NM_000094.4(COL7A1):c.6497A>G (p.Lys2166Arg) rs756368901 0.00003
NM_000094.4(COL7A1):c.6723G>A (p.Gln2241=) rs775756645 0.00003
NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala) rs772457877 0.00003
NM_000094.4(COL7A1):c.6978+8G>A rs187312469 0.00003
NM_000094.4(COL7A1):c.7128G>A (p.Pro2376=) rs776459582 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.8289C>T (p.Gly2763=) rs763764765 0.00003
NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=) rs748854889 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.1785G>A (p.Pro595=) rs749549682 0.00002
NM_000094.4(COL7A1):c.1860C>T (p.Pro620=) rs369313576 0.00002
NM_000094.4(COL7A1):c.2169C>T (p.His723=) rs147643230 0.00002
NM_000094.4(COL7A1):c.2249C>T (p.Thr750Met) rs377763372 0.00002
NM_000094.4(COL7A1):c.2376A>G (p.Leu792=) rs754120044 0.00002
NM_000094.4(COL7A1):c.2545G>A (p.Gly849Arg) rs367797946 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.2734C>T (p.Leu912=) rs773201784 0.00002
NM_000094.4(COL7A1):c.3152G>A (p.Gly1051Asp) rs373817004 0.00002
NM_000094.4(COL7A1):c.3182C>T (p.Ala1061Val) rs553468091 0.00002
NM_000094.4(COL7A1):c.3469G>A (p.Val1157Ile) rs750102430 0.00002
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val) rs546776797 0.00002
NM_000094.4(COL7A1):c.3602G>A (p.Arg1201His) rs189206728 0.00002
NM_000094.4(COL7A1):c.3753T>C (p.Cys1251=) rs764349883 0.00002
NM_000094.4(COL7A1):c.4228C>T (p.Pro1410Ser) rs778098950 0.00002
NM_000094.4(COL7A1):c.4518+7C>T rs377114408 0.00002
NM_000094.4(COL7A1):c.4605G>C (p.Glu1535Asp) rs1285793084 0.00002
NM_000094.4(COL7A1):c.4636-9T>C rs760840151 0.00002
NM_000094.4(COL7A1):c.477T>C (p.Ala159=) rs910778254 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.5427G>A (p.Gly1809=) rs770678998 0.00002
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His) rs756258247 0.00002
NM_000094.4(COL7A1):c.5532+8T>C rs1321882939 0.00002
NM_000094.4(COL7A1):c.5701-10C>T rs1471404340 0.00002
NM_000094.4(COL7A1):c.5771A>T (p.Gln1924Leu) rs746824716 0.00002
NM_000094.4(COL7A1):c.5913G>T (p.Leu1971=) rs754578634 0.00002
NM_000094.4(COL7A1):c.5927G>A (p.Arg1976Gln) rs982433923 0.00002
NM_000094.4(COL7A1):c.5951C>T (p.Ser1984Leu) rs200551525 0.00002
NM_000094.4(COL7A1):c.6045G>A (p.Gly2015=) rs934784670 0.00002
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838 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.7068+5G>A rs779875751 0.00002
NM_000094.4(COL7A1):c.707G>A (p.Arg236Gln) rs773361013 0.00002
NM_000094.4(COL7A1):c.7196C>T (p.Ala2399Val) rs751885031 0.00002
NM_000094.4(COL7A1):c.7521+9G>A rs769808777 0.00002
NM_000094.4(COL7A1):c.7882C>T (p.Arg2628Trp) rs376588113 0.00002
NM_000094.4(COL7A1):c.8187T>G (p.Ser2729Arg) rs528281412 0.00002
NM_000094.4(COL7A1):c.8227-9G>A rs766585624 0.00002
NM_000094.4(COL7A1):c.8407+10G>A rs754593655 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.1403G>A (p.Arg468His) rs768672251 0.00001
NM_000094.4(COL7A1):c.1529C>T (p.Pro510Leu) rs200313202 0.00001
NM_000094.4(COL7A1):c.1561G>A (p.Gly521Arg) rs1383489466 0.00001
NM_000094.4(COL7A1):c.158A>G (p.Asn53Ser) rs772466271 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.1720C>T (p.Arg574Trp) rs200762860 0.00001
NM_000094.4(COL7A1):c.1735G>C (p.Val579Leu) rs1311575300 0.00001
NM_000094.4(COL7A1):c.1774C>T (p.Arg592Cys) rs147470888 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.2016G>C (p.Glu672Asp) rs754341326 0.00001
NM_000094.4(COL7A1):c.2035A>G (p.Ile679Val) rs751176402 0.00001
NM_000094.4(COL7A1):c.2064A>G (p.Pro688=) rs774502545 0.00001
NM_000094.4(COL7A1):c.2125G>T (p.Val709Phe) rs758686564 0.00001
NM_000094.4(COL7A1):c.219T>C (p.Ser73=) rs762065822 0.00001
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=) rs549271654 0.00001
NM_000094.4(COL7A1):c.2315-3C>T rs1042769826 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.2557G>A (p.Gly853Ser) rs773229775 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.2852G>A (p.Arg951His) rs540205999 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.2888G>A (p.Arg963His) rs776204399 0.00001
NM_000094.4(COL7A1):c.28C>T (p.Leu10Phe) rs1346272373 0.00001
NM_000094.4(COL7A1):c.2968C>T (p.Arg990Trp) rs763751979 0.00001
NM_000094.4(COL7A1):c.3016C>T (p.Leu1006Phe) rs1305255095 0.00001
NM_000094.4(COL7A1):c.302G>T (p.Gly101Val) rs973642161 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.3673G>C (p.Ala1225Pro) rs199679997 0.00001
NM_000094.4(COL7A1):c.3724-4G>A rs374283437 0.00001
NM_000094.4(COL7A1):c.3727C>T (p.Arg1243Trp) rs1189017197 0.00001
NM_000094.4(COL7A1):c.3750T>C (p.Tyr1250=) rs558659528 0.00001
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=) rs778777140 0.00001
NM_000094.4(COL7A1):c.3831+3G>A rs767241808 0.00001
NM_000094.4(COL7A1):c.3872G>A (p.Ser1291Asn) rs748019757 0.00001
NM_000094.4(COL7A1):c.3875C>T (p.Ala1292Val) rs776493858 0.00001
NM_000094.4(COL7A1):c.3888C>T (p.Gly1296=) rs375511803 0.00001
NM_000094.4(COL7A1):c.4048-15T>A rs367995901 0.00001
NM_000094.4(COL7A1):c.4119+11G>A rs202225012 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.4540C>T (p.Arg1514Cys) rs1170025132 0.00001
NM_000094.4(COL7A1):c.4615C>T (p.Pro1539Ser) rs775437783 0.00001
NM_000094.4(COL7A1):c.4635+10G>A rs749722600 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.4818+18T>A rs368227259 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.4997G>A (p.Arg1666Gln) rs1028574312 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.5098-5C>T rs886058637 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.5559C>T (p.Asp1853=) rs776433840 0.00001
NM_000094.4(COL7A1):c.556G>T (p.Val186Phe) rs2045838430 0.00001
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=) rs371009419 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.6075C>T (p.Gly2025=) rs763329165 0.00001
NM_000094.4(COL7A1):c.6113A>G (p.Lys2038Arg) rs749235923 0.00001
NM_000094.4(COL7A1):c.6130C>T (p.Leu2044Phe) rs756037004 0.00001
NM_000094.4(COL7A1):c.6170C>T (p.Pro2057Leu) rs2044220324 0.00001
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu) rs377112899 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.6447C>T (p.Asp2149=) rs199843749 0.00001
NM_000094.4(COL7A1):c.6456G>A (p.Pro2152=) rs746447568 0.00001
NM_000094.4(COL7A1):c.6457-11A>G rs776269680 0.00001
NM_000094.4(COL7A1):c.6457-3C>T rs1175388777 0.00001
NM_000094.4(COL7A1):c.6465A>G (p.Pro2155=) rs1266041812 0.00001
NM_000094.4(COL7A1):c.6501+8G>T rs201392891 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.6649C>T (p.Arg2217Trp) rs546653276 0.00001
NM_000094.4(COL7A1):c.6717T>G (p.Gly2239=) rs1425057780 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.6884C>T (p.Thr2295Met) rs757102252 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.6954T>C (p.Leu2318=) rs1054273238 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.7115G>A (p.Gly2372Glu) rs1233025207 0.00001
NM_000094.4(COL7A1):c.7164+10T>C rs781780574 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.7334C>T (p.Pro2445Leu) rs750113696 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.7581G>A (p.Gly2527=) rs530291076 0.00001
NM_000094.4(COL7A1):c.7595G>A (p.Arg2532Gln) rs755230641 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.8108G>A (p.Arg2703Gln) rs886058629 0.00001
NM_000094.4(COL7A1):c.814C>A (p.Leu272Met) rs761770920 0.00001
NM_000094.4(COL7A1):c.8167C>T (p.Pro2723Ser) rs774540354 0.00001
NM_000094.4(COL7A1):c.8216A>C (p.Gln2739Pro) rs771892535 0.00001
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln) rs377182638 0.00001
NM_000094.4(COL7A1):c.8280A>G (p.Gly2760=) rs374365287 0.00001
NM_000094.4(COL7A1):c.8353C>T (p.Leu2785=) rs780130738 0.00001
NM_000094.4(COL7A1):c.8441G>A (p.Arg2814Gln) rs767236747 0.00001
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=) rs751768659 0.00001
NM_000094.4(COL7A1):c.8470G>T (p.Ala2824Ser) rs1210237099 0.00001
NM_000094.4(COL7A1):c.8611G>A (p.Asp2871Asn) rs746146532 0.00001
NM_000094.4(COL7A1):c.8635C>T (p.Pro2879Ser) rs771286848 0.00001
NM_000094.4(COL7A1):c.8654G>A (p.Cys2885Tyr) rs749519562 0.00001
NM_000094.4(COL7A1):c.8676G>T (p.Trp2892Cys) rs755464659 0.00001
NM_000094.4(COL7A1):c.8817A>G (p.Thr2939=) rs766321543 0.00001
NM_000094.4(COL7A1):c.8824G>T (p.Ala2942Ser) rs1441002372 0.00001
NM_000094.4(COL7A1):c.951G>A (p.Glu317=) rs1482481603 0.00001
NM_000094.4(COL7A1):c.961G>A (p.Gly321Arg) rs772063851 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.*105C>T rs377441767
NM_000094.4(COL7A1):c.*162C>A rs545650545
NM_000094.4(COL7A1):c.*270G>T rs2043503119
NM_000094.4(COL7A1):c.*40A>T rs886058627
NM_000094.4(COL7A1):c.*87G>A rs1575413305
NM_000094.4(COL7A1):c.1010A>G (p.Asn337Ser) rs374780340
NM_000094.4(COL7A1):c.1033G>C (p.Val345Leu)
NM_000094.4(COL7A1):c.1043G>T (p.Arg348Leu) rs200570283
NM_000094.4(COL7A1):c.1048G>A (p.Val350Met)
NM_000094.4(COL7A1):c.106G>A (p.Ala36Thr)
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.1147C>T (p.Arg383Cys)
NM_000094.4(COL7A1):c.1153T>G (p.Leu385Val)
NM_000094.4(COL7A1):c.1169A>G (p.Asp390Gly)
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.1215C>T (p.Pro405=) rs200882719
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.1334G>A (p.Arg445Gln)
NM_000094.4(COL7A1):c.1357+8C>A rs368098361
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.1525A>G (p.Ser509Gly) rs2045702958
NM_000094.4(COL7A1):c.1528C>T (p.Pro510Ser)
NM_000094.4(COL7A1):c.1532T>C (p.Val511Ala) rs2045702024
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.1612C>T (p.Arg538Cys)
NM_000094.4(COL7A1):c.1615A>T (p.Ile539Phe) rs1303497009
NM_000094.4(COL7A1):c.163C>T (p.Arg55Cys)
NM_000094.4(COL7A1):c.1649C>A (p.Thr550Asn) rs2045638560
NM_000094.4(COL7A1):c.1673C>G (p.Thr558Arg)
NM_000094.4(COL7A1):c.1681G>A (p.Asp561Asn) rs1320589494
NM_000094.4(COL7A1):c.1693G>A (p.Val565Ile)
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.1844G>T (p.Arg615Met) rs2045617671
NM_000094.4(COL7A1):c.1874G>C (p.Ser625Thr)
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.1964T>G (p.Leu655Arg)
NM_000094.4(COL7A1):c.1969C>T (p.Pro657Ser) rs886058641
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.208G>A (p.Gly70Arg)
NM_000094.4(COL7A1):c.2110A>G (p.Ile704Val)
NM_000094.4(COL7A1):c.2111T>A (p.Ile704Asn)
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.2157G>C (p.Trp719Cys) rs2045549952
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.2178G>T (p.Glu726Asp) rs777401461
NM_000094.4(COL7A1):c.2190G>C (p.Leu730Phe)
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.2239A>G (p.Thr747Ala)
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.2317C>A (p.Pro773Thr)
NM_000094.4(COL7A1):c.2326G>A (p.Val776Met)
NM_000094.4(COL7A1):c.2332C>T (p.Arg778Cys)
NM_000094.4(COL7A1):c.2333G>A (p.Arg778His)
NM_000094.4(COL7A1):c.2333G>C (p.Arg778Pro)
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.2380A>T (p.Ile794Phe) rs2045492250
NM_000094.4(COL7A1):c.2382C>T (p.Ile794=) rs1388911281
NM_000094.4(COL7A1):c.2432G>A (p.Arg811Gln)
NM_000094.4(COL7A1):c.2437G>A (p.Glu813Lys)
NM_000094.4(COL7A1):c.2440+3A>C
NM_000094.4(COL7A1):c.2440+3A>G
NM_000094.4(COL7A1):c.2441-6G>A
NM_000094.4(COL7A1):c.2442C>T (p.Gly814=) rs546082340
NM_000094.4(COL7A1):c.2443G>A (p.Gly815Ser)
NM_000094.4(COL7A1):c.2445C>G (p.Gly815=) rs2045479336
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.2542G>T (p.Val848Phe)
NM_000094.4(COL7A1):c.2543T>G (p.Val848Gly)
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn) rs538387822
NM_000094.4(COL7A1):c.2548G>T (p.Asp850Tyr)
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.2622C>A (p.His874Gln)
NM_000094.4(COL7A1):c.2623G>C (p.Val875Leu)
NM_000094.4(COL7A1):c.2625_2626delinsCT (p.Val876Leu) rs2045441032
NM_000094.4(COL7A1):c.2627T>G (p.Val876Gly)
NM_000094.4(COL7A1):c.2640G>T (p.Glu880Asp)
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.2697C>G (p.His899Gln)
NM_000094.4(COL7A1):c.2698T>G (p.Trp900Gly) rs2107763593
NM_000094.4(COL7A1):c.26C>T (p.Ala9Val)
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.2729G>T (p.Arg910Leu) 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.2769G>A (p.Gly923=) rs748086542
NM_000094.4(COL7A1):c.276C>A (p.Phe92Leu) rs746563255
NM_000094.4(COL7A1):c.2776C>T (p.Pro926Ser)
NM_000094.4(COL7A1):c.2780C>T (p.Ala927Val)
NM_000094.4(COL7A1):c.2791C>A (p.Arg931Ser) rs143979792
NM_000094.4(COL7A1):c.2791C>T (p.Arg931Cys) rs143979792
NM_000094.4(COL7A1):c.2793C>T (p.Arg931=) rs142681592
NM_000094.4(COL7A1):c.279C>T (p.Gly93=) rs745864625
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.2903C>T (p.Ser968Leu)
NM_000094.4(COL7A1):c.2908G>A (p.Asp970Asn)
NM_000094.4(COL7A1):c.2914G>A (p.Val972Met)
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.3035C>T (p.Ser1012Phe)
NM_000094.4(COL7A1):c.3039G>C (p.Gln1013His) rs570498790
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His) rs570498790
NM_000094.4(COL7A1):c.3040C>T (p.Arg1014Trp)
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.317C>T (p.Ala106Val) rs767643638
NM_000094.4(COL7A1):c.3199C>T (p.His1067Tyr)
NM_000094.4(COL7A1):c.3203G>T (p.Arg1068Leu)
NM_000094.4(COL7A1):c.3211G>A (p.Ala1071Thr) rs143245957
NM_000094.4(COL7A1):c.3211G>T (p.Ala1071Ser) rs143245957
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.3233G>A (p.Arg1078His) rs748471791
NM_000094.4(COL7A1):c.3233G>C (p.Arg1078Pro)
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.3364C>T (p.Arg1122Cys)
NM_000094.4(COL7A1):c.3407C>T (p.Thr1136Ile)
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.3529A>G (p.Ile1177Val)
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.3545_3550del (p.Ala1182_Ser1183del) rs2107748198
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.3551-5C>T rs879213218
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.3633G>C (p.Gln1211His)
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.3653A>T (p.Asp1218Val)
NM_000094.4(COL7A1):c.365C>T (p.Ala122Val)
NM_000094.4(COL7A1):c.3674C>T (p.Ala1225Val)
NM_000094.4(COL7A1):c.367A>C (p.Ile123Leu)
NM_000094.4(COL7A1):c.3715A>C (p.Thr1239Pro)
NM_000094.4(COL7A1):c.3715A>G (p.Thr1239Ala)
NM_000094.4(COL7A1):c.3731C>T (p.Pro1244Leu) rs2045223332
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.3818A>C (p.Asp1273Ala)
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.3862C>A (p.Pro1288Thr)
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.3929C>T (p.Pro1310Leu) rs2045143069
NM_000094.4(COL7A1):c.3934C>T (p.Arg1312Cys)
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=) rs141825319
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.4(COL7A1):c.3946C>T (p.Pro1316Ser)
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.398C>A (p.Pro133His)
NM_000094.4(COL7A1):c.4001G>A (p.Arg1334His) rs759297874
NM_000094.4(COL7A1):c.4009C>G (p.Pro1337Ala)
NM_000094.4(COL7A1):c.4015G>C (p.Glu1339Gln)
NM_000094.4(COL7A1):c.4021G>A (p.Gly1341Arg)
NM_000094.4(COL7A1):c.4031G>A (p.Gly1344Asp)
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.4093G>T (p.Gly1365Trp)
NM_000094.4(COL7A1):c.4100A>C (p.Lys1367Thr) rs2045073283
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.4217G>T (p.Gly1406Val) rs2045010838
NM_000094.4(COL7A1):c.4224+3_4224+6del
NM_000094.4(COL7A1):c.4224G>A (p.Arg1408=)
NM_000094.4(COL7A1):c.4237C>A (p.Pro1413Thr)
NM_000094.4(COL7A1):c.4237_4241delinsACAGA (p.Pro1413_Gly1414delinsThrAsp)
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.4342-13G>A
NM_000094.4(COL7A1):c.4351G>A (p.Glu1451Lys)
NM_000094.4(COL7A1):c.4353G>T (p.Glu1451Asp) rs2107727375
NM_000094.4(COL7A1):c.4364C>T (p.Pro1455Leu)
NM_000094.4(COL7A1):c.4388C>T (p.Ser1463Phe) rs886058640
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.4408C>T (p.Arg1470Trp) rs769297158
NM_000094.4(COL7A1):c.4414C>A (p.Pro1472Thr) rs775987562
NM_000094.4(COL7A1):c.4426A>G (p.Ile1476Val)
NM_000094.4(COL7A1):c.4427T>C (p.Ile1476Thr) rs2044930168
NM_000094.4(COL7A1):c.4437+5G>A rs886058639
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.4490G>T (p.Arg1497Leu)
NM_000094.4(COL7A1):c.4495C>A (p.Pro1499Thr)
NM_000094.4(COL7A1):c.4502G>C (p.Gly1501Ala)
NM_000094.4(COL7A1):c.4516C>T (p.Arg1506Trp)
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.4583G>A (p.Gly1528Asp) rs2107718980
NM_000094.4(COL7A1):c.4586G>A (p.Arg1529His)
NM_000094.4(COL7A1):c.4609G>A (p.Gly1537Ser)
NM_000094.4(COL7A1):c.4635+5G>A rs1170510858
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.4678G>A (p.Gly1560Arg) rs2044774392
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.4753C>T (p.Pro1585Ser)
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.4786C>T (p.Pro1596Ser)
NM_000094.4(COL7A1):c.4810G>C (p.Gly1604Arg) rs1560234201
NM_000094.4(COL7A1):c.4814C>A (p.Pro1605His) rs746038868
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.4870C>G (p.Pro1624Ala)
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.4927G>A (p.Gly1643Ser) rs886058638
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.4999G>T (p.Gly1667Trp) rs2107707008
NM_000094.4(COL7A1):c.49G>C (p.Glu17Gln)
NM_000094.4(COL7A1):c.5000G>A (p.Gly1667Glu) rs864321654
NM_000094.4(COL7A1):c.5022_5030dup (p.Asp1677_Pro1678insGlnGlyAsp)
NM_000094.4(COL7A1):c.5026G>A (p.Gly1676Arg) rs2107706791
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.5041G>T (p.Asp1681Tyr) rs2044679313
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.5058C>T (p.Ser1686=) rs144700737
NM_000094.4(COL7A1):c.505A>G (p.Lys169Glu)
NM_000094.4(COL7A1):c.5077A>G (p.Lys1693Glu) rs2107704760
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.5154+8G>A
NM_000094.4(COL7A1):c.5155-17_5155-16delinsTT
NM_000094.4(COL7A1):c.515C>T (p.Ala172Val)
NM_000094.4(COL7A1):c.5164_5187del (p.Gly1722_Pro1729del)
NM_000094.4(COL7A1):c.5168A>G (p.Asp1723Gly)
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.5202T>C (p.Gly1734=) rs2044586502
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.5225C>G (p.Pro1742Arg)
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.5273G>A (p.Gly1758Glu) rs1553857986
NM_000094.4(COL7A1):c.5323C>T (p.Pro1775Ser)
NM_000094.4(COL7A1):c.5324C>T (p.Pro1775Leu)
NM_000094.4(COL7A1):c.5333A>T (p.Asp1778Val)
NM_000094.4(COL7A1):c.5352T>C (p.Asp1784=) rs2044549084
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.5471G>T (p.Gly1824Val)
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.5532+67A>G rs1553856947
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.5626G>C (p.Glu1876Gln) rs930473908
NM_000094.4(COL7A1):c.5630G>A (p.Arg1877His)
NM_000094.4(COL7A1):c.5654C>T (p.Pro1885Leu)
NM_000094.4(COL7A1):c.5666C>T (p.Pro1889Leu)
NM_000094.4(COL7A1):c.5668G>A (p.Gly1890Ser) rs2107682264
NM_000094.4(COL7A1):c.5669G>T (p.Gly1890Val) rs2107682252
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.5772G>A (p.Gln1924=) rs2107680234
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.5830C>T (p.Arg1944Trp)
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.5870G>A (p.Arg1957Gln)
NM_000094.4(COL7A1):c.5878G>C (p.Val1960Leu)
NM_000094.4(COL7A1):c.5906G>A (p.Ser1969Asn) rs2107676353
NM_000094.4(COL7A1):c.5923G>A (p.Glu1975Lys)
NM_000094.4(COL7A1):c.5924_5927del (p.Glu1975fs) rs1064797080
NM_000094.4(COL7A1):c.5926C>T (p.Arg1976Trp) rs143307229
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.6030C>A (p.Asp2010Glu)
NM_000094.4(COL7A1):c.6036C>G (p.Gly2012=) rs886058636
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.6094C>T (p.Leu2032Phe) rs778250514
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.6145G>A (p.Gly2049Arg) rs1189071165
NM_000094.4(COL7A1):c.614G>A (p.Arg205Lys)
NM_000094.4(COL7A1):c.6168G>T (p.Arg2056Ser)
NM_000094.4(COL7A1):c.6177G>C (p.Glu2059Asp) rs2044219862
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.6256C>T (p.Pro2086Ser)
NM_000094.4(COL7A1):c.6257C>T (p.Pro2086Leu)
NM_000094.4(COL7A1):c.6264_6272del (p.2084PGP[2])
NM_000094.4(COL7A1):c.6265C>A (p.Pro2089Thr) rs139920321
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.6270T>A (p.Pro2090=) rs2044195363
NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=) rs2044195363
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.6361A>G (p.Ser2121Gly)
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.642A>T (p.Arg214Ser) rs2045831596
NM_000094.4(COL7A1):c.6433C>T (p.Pro2145Ser)
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.6457-13C>T
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.6619-12G>T rs886058634
NM_000094.4(COL7A1):c.6634A>G (p.Thr2212Ala)
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.6652-3del rs1181199317
NM_000094.4(COL7A1):c.6662G>A (p.Gly2221Glu)
NM_000094.4(COL7A1):c.6691C>A (p.Pro2231Thr) rs369838476
NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser) rs2107661505
NM_000094.4(COL7A1):c.6700C>T (p.Pro2234Ser)
NM_000094.4(COL7A1):c.6707G>A (p.Gly2236Asp) rs2107661433
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.6818G>A (p.Ser2273Asn)
NM_000094.4(COL7A1):c.6819C>A (p.Ser2273Arg)
NM_000094.4(COL7A1):c.682+5G>A rs767647070
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.6832G>C (p.Gly2278Arg) rs1186008166
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.6927G>C (p.Lys2309Asn)
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.6937-10C>A rs369674282
NM_000094.4(COL7A1):c.6946G>A (p.Gly2316Arg) rs1575430201
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.7157G>A (p.Gly2386Asp)
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.717G>A (p.Val239=) rs777003245
NM_000094.4(COL7A1):c.7181C>G (p.Pro2394Arg)
NM_000094.4(COL7A1):c.7190C>T (p.Pro2397Leu)
NM_000094.4(COL7A1):c.7191C>T (p.Pro2397=) rs34360255
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.7215C>T (p.Phe2405=) 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>A (p.Gly2419Asp)
NM_000094.4(COL7A1):c.7256G>T (p.Gly2419Val)
NM_000094.4(COL7A1):c.7268A>G (p.Glu2423Gly)
NM_000094.4(COL7A1):c.7271G>A (p.Arg2424Gln)
NM_000094.4(COL7A1):c.7272+5G>A rs2043871373
NM_000094.4(COL7A1):c.7273G>T (p.Gly2425Cys) rs886058633
NM_000094.4(COL7A1):c.7280C>A (p.Ala2427Glu)
NM_000094.4(COL7A1):c.7289C>G (p.Pro2430Arg)
NM_000094.4(COL7A1):c.7295G>A (p.Arg2432Lys)
NM_000094.4(COL7A1):c.7313C>A (p.Pro2438His)
NM_000094.4(COL7A1):c.7336G>A (p.Gly2446Arg)
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.7408C>A (p.Pro2470Thr) rs886058632
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.7420C>T (p.Arg2474Cys)
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.7449T>A (p.Asp2483Glu)
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.7485+6del rs1339353383
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.7686+9A>G rs368187472
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.7758+15A>T
NM_000094.4(COL7A1):c.7759G>A (p.Gly2587Ser) rs977778252
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+11_7929+26del rs773394779
NM_000094.4(COL7A1):c.7929+3A>T rs886058631
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.7976G>A (p.Gly2659Glu) rs2107635651
NM_000094.4(COL7A1):c.7978G>C (p.Glu2660Gln)
NM_000094.4(COL7A1):c.7983G>A (p.Met2661Ile)
NM_000094.4(COL7A1):c.7991C>T (p.Pro2664Leu)
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+3A>T rs2107634885
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.8094C>A (p.Gly2698=) rs199936185
NM_000094.4(COL7A1):c.809C>T (p.Thr270Met)
NM_000094.4(COL7A1):c.80A>G (p.Glu27Gly) rs2107811799
NM_000094.4(COL7A1):c.80A>T (p.Glu27Val) rs2107811799
NM_000094.4(COL7A1):c.8109+3G>A
NM_000094.4(COL7A1):c.8109+5G>C
NM_000094.4(COL7A1):c.8109G>A (p.Arg2703=)
NM_000094.4(COL7A1):c.811G>C (p.Gly271Arg)
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.8236G>C (p.Gly2746Arg) rs2107632058
NM_000094.4(COL7A1):c.8239C>T (p.Pro2747Ser) rs1218556461
NM_000094.4(COL7A1):c.8244C>T (p.Pro2748=) rs749575902
NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu) rs2107631988
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.831G>A (p.Pro277=) rs749004650
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.8359-16G>A
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.8407+10G>T rs754593655
NM_000094.4(COL7A1):c.8415G>C (p.Gln2805His) rs778068500
NM_000094.4(COL7A1):c.8443C>T (p.Pro2815Ser)
NM_000094.4(COL7A1):c.8444C>T (p.Pro2815Leu) rs2043563684
NM_000094.4(COL7A1):c.8446C>T (p.Leu2816Phe)
NM_000094.4(COL7A1):c.8450C>T (p.Pro2817Leu)
NM_000094.4(COL7A1):c.846+18A>G
NM_000094.4(COL7A1):c.846G>A (p.Glu282=) rs770216458
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.8485C>T (p.His2829Tyr) rs2043561757
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>G (p.Pro2847Ala) rs140041143
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.8569G>A (p.Glu2857Lys) rs372166543
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.8631C>A (p.Ser2877=) rs886058628
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.8800G>T (p.Val2934Phe) rs903839030
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.888T>C (p.Gly296=) rs1575492483
NM_000094.4(COL7A1):c.892C>T (p.Arg298Trp)
NM_000094.4(COL7A1):c.901A>G (p.Thr301Ala)
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.946G>C (p.Gly316Arg) rs776344680
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.976+4A>T rs2107794243
NM_000094.4(COL7A1):c.977-3C>T
NM_000094.4(COL7A1):c.998T>C (p.Leu333Pro) rs2107793377

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