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.3809C>T (p.Pro1270Leu)
|
rs145068043
|
0.00020
|
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr)
|
rs149342284
|
0.00019
|
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)
|
rs2229820
|
0.00016
|
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=)
|
rs200972872
|
0.00010
|
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)
|
rs139318843
|
0.00005
|
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His)
|
rs147040026
|
0.00002
|
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His)
|
rs756258247
|
0.00002
|
NM_000094.4(COL7A1):c.7882C>T (p.Arg2628Trp)
|
rs376588113
|
0.00002
|
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter)
|
rs760063197
|
0.00001
|
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu)
|
rs1233025207
|
0.00001
|
NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg)
|
rs760891216
|
0.00001
|
NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter)
|
rs2043645754
|
0.00001
|
NM_000094.4(COL7A1):c.8167C>T (p.Pro2723Ser)
|
rs774540354
|
0.00001
|
NM_000094.4(COL7A1):c.1334G>A (p.Arg445Gln)
|
|
|
NM_000094.4(COL7A1):c.138C>A (p.Ser46=)
|
|
|
NM_000094.4(COL7A1):c.1612C>T (p.Arg538Cys)
|
|
|
NM_000094.4(COL7A1):c.190C>T (p.Leu64=)
|
|
|
NM_000094.4(COL7A1):c.2111T>A (p.Ile704Asn)
|
|
|
NM_000094.4(COL7A1):c.2239A>G (p.Thr747Ala)
|
|
|
NM_000094.4(COL7A1):c.2317C>A (p.Pro773Thr)
|
|
|
NM_000094.4(COL7A1):c.2333G>C (p.Arg778Pro)
|
|
|
NM_000094.4(COL7A1):c.2543T>G (p.Val848Gly)
|
|
|
NM_000094.4(COL7A1):c.256G>A (p.Asp86Asn)
|
|
|
NM_000094.4(COL7A1):c.2622C>A (p.His874Gln)
|
|
|
NM_000094.4(COL7A1):c.2697C>G (p.His899Gln)
|
|
|
NM_000094.4(COL7A1):c.3411C>G (p.Ala1137=)
|
|
|
NM_000094.4(COL7A1):c.3672G>A (p.Gln1224=)
|
|
|
NM_000094.4(COL7A1):c.3831+1G>A
|
|
|
NM_000094.4(COL7A1):c.3975+2T>A
|
rs753368984
|
|
NM_000094.4(COL7A1):c.4015G>C (p.Glu1339Gln)
|
|
|
NM_000094.4(COL7A1):c.4093G>T (p.Gly1365Trp)
|
|
|
NM_000094.4(COL7A1):c.4342-10T>A
|
|
|
NM_000094.4(COL7A1):c.4342-13G>A
|
|
|
NM_000094.4(COL7A1):c.4351G>A (p.Glu1451Lys)
|
|
|
NM_000094.4(COL7A1):c.4437+16G>A
|
|
|
NM_000094.4(COL7A1):c.4502G>C (p.Gly1501Ala)
|
|
|
NM_000094.4(COL7A1):c.4588C>T (p.Gln1530Ter)
|
rs2107718927
|
|
NM_000094.4(COL7A1):c.4753C>T (p.Pro1585Ser)
|
|
|
NM_000094.4(COL7A1):c.4786C>T (p.Pro1596Ser)
|
|
|
NM_000094.4(COL7A1):c.4900-1G>A
|
rs2107710536
|
|
NM_000094.4(COL7A1):c.5333A>T (p.Asp1778Val)
|
|
|
NM_000094.4(COL7A1):c.5370T>A (p.Ala1790=)
|
|
|
NM_000094.4(COL7A1):c.5630G>A (p.Arg1877His)
|
|
|
NM_000094.4(COL7A1):c.5772+14C>T
|
|
|
NM_000094.4(COL7A1):c.5772+1del
|
rs1295547257
|
|
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter)
|
rs757415879
|
|
NM_000094.4(COL7A1):c.5878G>C (p.Val1960Leu)
|
|
|
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg)
|
rs121912836
|
|
NM_000094.4(COL7A1):c.6257C>T (p.Pro2086Leu)
|
|
|
NM_000094.4(COL7A1):c.6339G>A (p.Lys2113=)
|
|
|
NM_000094.4(COL7A1):c.6394-16G>A
|
|
|
NM_000094.4(COL7A1):c.6457-13C>T
|
|
|
NM_000094.4(COL7A1):c.6818G>A (p.Ser2273Asn)
|
|
|
NM_000094.4(COL7A1):c.682+1G>T
|
|
|
NM_000094.4(COL7A1):c.6946G>A (p.Gly2316Arg)
|
rs1575430201
|
|
NM_000094.4(COL7A1):c.7269G>A (p.Glu2423=)
|
|
|
NM_000094.4(COL7A1):c.7335G>A (p.Pro2445=)
|
|
|
NM_000094.4(COL7A1):c.7420C>T (p.Arg2474Cys)
|
|
|
NM_000094.4(COL7A1):c.7440+20C>T
|
|
|
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter)
|
rs765529435
|
|
NM_000094.4(COL7A1):c.7580G>A (p.Gly2527Glu)
|
|
|
NM_000094.4(COL7A1):c.7669G>A (p.Gly2557Arg)
|
|
|
NM_000094.4(COL7A1):c.7758+15A>T
|
|
|
NM_000094.4(COL7A1):c.7875+16G>A
|
|
|
NM_000094.4(COL7A1):c.846+18A>G
|
|
|
NM_000094.4(COL7A1):c.846G>A (p.Glu282=)
|
rs770216458
|
|
NM_000094.4(COL7A1):c.8527+12T>G
|
|
|
NM_000094.4(COL7A1):c.8800G>T (p.Val2934Phe)
|
rs903839030
|
|