NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)
|
rs142566193
|
0.00109
|
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu)
|
rs143221297
|
0.00061
|
NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val)
|
rs144825552
|
0.00044
|
NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg)
|
rs139622306
|
0.00043
|
NM_000094.4(COL7A1):c.5956G>A (p.Glu1986Lys)
|
rs144208360
|
0.00035
|
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.4508C>T (p.Ala1503Val)
|
rs150332158
|
0.00021
|
NM_000094.4(COL7A1):c.1043G>A (p.Arg348Gln)
|
rs200570283
|
0.00020
|
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
|
rs143352280
|
0.00016
|
NM_000094.4(COL7A1):c.3232C>T (p.Arg1078Cys)
|
rs149154108
|
0.00011
|
NM_000094.4(COL7A1):c.6388G>A (p.Asp2130Asn)
|
rs375909549
|
0.00009
|
NM_000094.4(COL7A1):c.653C>T (p.Thr218Ile)
|
rs202113569
|
0.00008
|
NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser)
|
rs148291967
|
0.00007
|
NM_000094.4(COL7A1):c.893G>A (p.Arg298Gln)
|
rs200892831
|
0.00006
|
NM_000094.4(COL7A1):c.1345C>T (p.Arg449Trp)
|
rs371991224
|
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.8428G>A (p.Ala2810Thr)
|
rs143995717
|
0.00005
|
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys)
|
rs142108058
|
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.3917G>A (p.Arg1306His)
|
rs558424479
|
0.00004
|
NM_000094.4(COL7A1):c.4274T>C (p.Leu1425Pro)
|
rs745975162
|
0.00004
|
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln)
|
rs570707807
|
0.00004
|
NM_000094.4(COL7A1):c.8473G>A (p.Gly2825Ser)
|
rs139308059
|
0.00004
|
NM_000094.4(COL7A1):c.4329G>T (p.Lys1443Asn)
|
rs752495777
|
0.00003
|
NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala)
|
rs772457877
|
0.00003
|
NM_000094.4(COL7A1):c.2645C>T (p.Ser882Leu)
|
rs372767169
|
0.00002
|
NM_000094.4(COL7A1):c.2633G>A (p.Arg878His)
|
rs775718981
|
0.00001
|
NM_000094.4(COL7A1):c.3872G>A (p.Ser1291Asn)
|
rs748019757
|
0.00001
|
NM_000094.4(COL7A1):c.4223G>A (p.Arg1408Gln)
|
rs576204059
|
0.00001
|
NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe)
|
rs575575729
|
0.00001
|
NM_000094.4(COL7A1):c.961G>A (p.Gly321Arg)
|
rs772063851
|
0.00001
|
NM_000094.4(COL7A1):c.106G>A (p.Ala36Thr)
|
|
|
NM_000094.4(COL7A1):c.1147C>T (p.Arg383Cys)
|
|
|
NM_000094.4(COL7A1):c.1169A>G (p.Asp390Gly)
|
|
|
NM_000094.4(COL7A1):c.1608G>C (p.Gln536His)
|
rs2107786870
|
|
NM_000094.4(COL7A1):c.1693G>A (p.Val565Ile)
|
|
|
NM_000094.4(COL7A1):c.1778G>A (p.Arg593Gln)
|
|
|
NM_000094.4(COL7A1):c.1874G>C (p.Ser625Thr)
|
|
|
NM_000094.4(COL7A1):c.1964T>G (p.Leu655Arg)
|
|
|
NM_000094.4(COL7A1):c.208G>A (p.Gly70Arg)
|
|
|
NM_000094.4(COL7A1):c.2190G>C (p.Leu730Phe)
|
|
|
NM_000094.4(COL7A1):c.2333G>A (p.Arg778His)
|
|
|
NM_000094.4(COL7A1):c.2437G>A (p.Glu813Lys)
|
|
|
NM_000094.4(COL7A1):c.2542G>T (p.Val848Phe)
|
|
|
NM_000094.4(COL7A1):c.2627T>G (p.Val876Gly)
|
|
|
NM_000094.4(COL7A1):c.2640G>T (p.Glu880Asp)
|
|
|
NM_000094.4(COL7A1):c.26C>T (p.Ala9Val)
|
|
|
NM_000094.4(COL7A1):c.2780C>T (p.Ala927Val)
|
|
|
NM_000094.4(COL7A1):c.2914G>A (p.Val972Met)
|
|
|
NM_000094.4(COL7A1):c.3035C>T (p.Ser1012Phe)
|
|
|
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His)
|
rs570498790
|
|
NM_000094.4(COL7A1):c.3199C>T (p.His1067Tyr)
|
|
|
NM_000094.4(COL7A1):c.3211G>T (p.Ala1071Ser)
|
rs143245957
|
|
NM_000094.4(COL7A1):c.3233G>A (p.Arg1078His)
|
rs748471791
|
|
NM_000094.4(COL7A1):c.3233G>C (p.Arg1078Pro)
|
|
|
NM_000094.4(COL7A1):c.3289T>A (p.Ser1097Thr)
|
|
|
NM_000094.4(COL7A1):c.3364C>T (p.Arg1122Cys)
|
|
|
NM_000094.4(COL7A1):c.3407C>T (p.Thr1136Ile)
|
|
|
NM_000094.4(COL7A1):c.3529A>G (p.Ile1177Val)
|
|
|
NM_000094.4(COL7A1):c.3633G>C (p.Gln1211His)
|
|
|
NM_000094.4(COL7A1):c.3653A>T (p.Asp1218Val)
|
|
|
NM_000094.4(COL7A1):c.367A>C (p.Ile123Leu)
|
|
|
NM_000094.4(COL7A1):c.3715A>C (p.Thr1239Pro)
|
|
|
NM_000094.4(COL7A1):c.3728G>A (p.Arg1243Gln)
|
|
|
NM_000094.4(COL7A1):c.3818A>C (p.Asp1273Ala)
|
|
|
NM_000094.4(COL7A1):c.3862C>A (p.Pro1288Thr)
|
|
|
NM_000094.4(COL7A1):c.3946C>T (p.Pro1316Ser)
|
|
|
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.4237C>A (p.Pro1413Thr)
|
|
|
NM_000094.4(COL7A1):c.4427T>C (p.Ile1476Thr)
|
rs2044930168
|
|
NM_000094.4(COL7A1):c.4516C>T (p.Arg1506Trp)
|
|
|
NM_000094.4(COL7A1):c.4870C>G (p.Pro1624Ala)
|
|
|
NM_000094.4(COL7A1):c.5057G>C (p.Ser1686Thr)
|
|
|
NM_000094.4(COL7A1):c.5114C>T (p.Pro1705Leu)
|
|
|
NM_000094.4(COL7A1):c.515C>T (p.Ala172Val)
|
|
|
NM_000094.4(COL7A1):c.5168A>G (p.Asp1723Gly)
|
|
|
NM_000094.4(COL7A1):c.5225C>G (p.Pro1742Arg)
|
|
|
NM_000094.4(COL7A1):c.5324C>T (p.Pro1775Leu)
|
|
|
NM_000094.4(COL7A1):c.5368G>C (p.Ala1790Pro)
|
|
|
NM_000094.4(COL7A1):c.5471G>T (p.Gly1824Val)
|
|
|
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg)
|
rs121912832
|
|
NM_000094.4(COL7A1):c.6030C>A (p.Asp2010Glu)
|
|
|
NM_000094.4(COL7A1):c.6256C>T (p.Pro2086Ser)
|
|
|
NM_000094.4(COL7A1):c.6265C>A (p.Pro2089Thr)
|
rs139920321
|
|
NM_000094.4(COL7A1):c.6361A>G (p.Ser2121Gly)
|
|
|
NM_000094.4(COL7A1):c.6433C>T (p.Pro2145Ser)
|
|
|
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)
|
rs768128088
|
|
NM_000094.4(COL7A1):c.6634A>G (p.Thr2212Ala)
|
|
|
NM_000094.4(COL7A1):c.6724G>C (p.Gly2242Arg)
|
rs121912837
|
|
NM_000094.4(COL7A1):c.6819C>A (p.Ser2273Arg)
|
|
|
NM_000094.4(COL7A1):c.7090C>T (p.Pro2364Ser)
|
|
|
NM_000094.4(COL7A1):c.7289C>G (p.Pro2430Arg)
|
|
|
NM_000094.4(COL7A1):c.7449T>A (p.Asp2483Glu)
|
|
|
NM_000094.4(COL7A1):c.7672G>A (p.Asp2558Asn)
|
|
|
NM_000094.4(COL7A1):c.7984-2del
|
rs2043665261
|
|
NM_000094.4(COL7A1):c.7991C>T (p.Pro2664Leu)
|
|
|
NM_000094.4(COL7A1):c.8009C>T (p.Ser2670Leu)
|
|
|
NM_000094.4(COL7A1):c.809C>T (p.Thr270Met)
|
|
|
NM_000094.4(COL7A1):c.8383C>T (p.Arg2795Cys)
|
|
|
NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)
|
rs372166543
|
|
NM_000094.4(COL7A1):c.884G>A (p.Arg295Gln)
|
|
|
NM_000094.4(COL7A1):c.901A>G (p.Thr301Ala)
|
|
|