NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)
|
rs142566193
|
0.00109
|
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)
|
rs767539005
|
0.00006
|
NM_000094.4(COL7A1):c.682+1G>A
|
rs775288140
|
0.00003
|
NM_000094.4(COL7A1):c.5560G>A (p.Gly1854Arg)
|
rs146234310
|
0.00002
|
NM_000094.4(COL7A1):c.520G>A (p.Gly174Arg)
|
rs1245411910
|
0.00001
|
NM_000094.3(COL7A1):c.4199del
|
rs2045013494
|
|
NM_000094.4(COL7A1):c.1507+4A>T
|
rs2107788093
|
|
NM_000094.4(COL7A1):c.2171-2A>G
|
rs1158674229
|
|
NM_000094.4(COL7A1):c.2711-1G>C
|
rs2107760970
|
|
NM_000094.4(COL7A1):c.3263C>T (p.Pro1088Leu)
|
rs529120446
|
|
NM_000094.4(COL7A1):c.3265C>T (p.Gln1089Ter)
|
rs1553612617
|
|
NM_000094.4(COL7A1):c.3276+1G>A
|
rs2045311247
|
|
NM_000094.4(COL7A1):c.3504del (p.Pro1168_Leu1169insTer)
|
rs730880286
|
|
NM_000094.4(COL7A1):c.3678_3681del (p.Ser1227fs)
|
|
|
NM_000094.4(COL7A1):c.3974del (p.Lys1325fs)
|
|
|
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)
|
rs1156352791
|
|
NM_000094.4(COL7A1):c.4350_4351del (p.Glu1451fs)
|
|
|
NM_000094.4(COL7A1):c.4667del (p.Lys1556fs)
|
|
|
NM_000094.4(COL7A1):c.4782+1G>A
|
|
|
NM_000094.4(COL7A1):c.4980+1G>C
|
rs730880285
|
|
NM_000094.4(COL7A1):c.5017G>A (p.Gly1673Arg)
|
rs2107706875
|
|
NM_000094.4(COL7A1):c.5053-5_5055dup
|
|
|
NM_000094.4(COL7A1):c.5124+2T>C
|
rs2107702819
|
|
NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg)
|
rs1057517724
|
|
NM_000094.4(COL7A1):c.5783G>A (p.Gly1928Glu)
|
rs1560219171
|
|
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys)
|
rs1055680335
|
|
NM_000094.4(COL7A1):c.6023G>T (p.Arg2008Leu)
|
|
|
NM_000094.4(COL7A1):c.6081dup (p.Gly2028fs)
|
rs780623622
|
|
NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)
|
rs1410793870
|
|
NM_000094.4(COL7A1):c.6652-2A>G
|
|
|
NM_000094.4(COL7A1):c.682+5G>A
|
rs767647070
|
|
NM_000094.4(COL7A1):c.6926A>C (p.Lys2309Thr)
|
rs2107657132
|
|
NM_000094.4(COL7A1):c.7069G>C (p.Gly2357Arg)
|
|
|
NM_000094.4(COL7A1):c.7104+3A>T
|
rs749077987
|
|
NM_000094.4(COL7A1):c.7521+2T>C
|
rs2107643652
|
|
NM_000094.4(COL7A1):c.7547dup (p.Gly2517_Asp2518insTer)
|
rs2107642953
|
|
NM_000094.4(COL7A1):c.7621C>T (p.Arg2541Ter)
|
rs2107641787
|
|
NM_000094.4(COL7A1):c.7624G>A (p.Gly2542Arg)
|
|
|
NM_000094.4(COL7A1):c.7768G>C (p.Gly2590Arg)
|
rs2043715843
|
|
NM_000094.4(COL7A1):c.8047-2A>C
|
rs2107633400
|
|
NM_000094.4(COL7A1):c.8075G>A (p.Gly2692Asp)
|
|
|
NM_000094.4(COL7A1):c.8200G>C (p.Gly2734Arg)
|
rs2107632563
|
|
NM_000094.4(COL7A1):c.8226+1G>C
|
|
|
NM_000094.4(COL7A1):c.8245G>T (p.Gly2749Ter)
|
|
|
NM_000094.4(COL7A1):c.8304+1G>A
|
rs759579761
|
|
NM_000094.4(COL7A1):c.8541del (p.Glu2848fs)
|
rs2043547588
|
|
NM_000094.4(COL7A1):c.8569G>T (p.Glu2857Ter)
|
rs372166543
|
|
NM_000094.4(COL7A1):c.8729G>T (p.Gly2910Val)
|
rs1242922135
|
|
NM_000094.4(COL7A1):c.977-1G>C
|
rs2107793500
|
|