NM_153717.3(EVC):c.769C>T (p.Leu257=)
|
rs6446393
|
0.95639
|
NM_153717.3(EVC):c.772T>C (p.Tyr258His)
|
rs6414624
|
0.72808
|
NM_153717.3(EVC):c.2305-8T>C
|
rs1031919
|
0.72106
|
NM_153717.3(EVC):c.2894+18A>G
|
rs2279250
|
0.71896
|
NM_153717.3(EVC):c.939+10A>G
|
rs2286342
|
0.67122
|
NM_153717.3(EVC):c.*14G>A
|
rs2291151
|
0.61437
|
NM_153717.3(EVC):c.802-15C>T
|
rs4689313
|
0.60306
|
NM_153717.3(EVC):c.1026G>C (p.Leu342=)
|
rs4688962
|
0.52761
|
NM_153717.3(EVC):c.969T>C (p.Asn323=)
|
rs4688963
|
0.40746
|
NM_153717.3(EVC):c.1099-19T>C
|
rs899691
|
0.37351
|
NM_153717.3(EVC):c.939+4C>T
|
rs2286343
|
0.33466
|
NM_147127.5(EVC2):c.3507C>T (p.His1169=)
|
rs12511039
|
0.28547
|
NM_153717.3(EVC):c.1068A>G (p.Leu356=)
|
rs33929747
|
0.26691
|
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly)
|
rs4689278
|
0.22179
|
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)
|
rs6820907
|
0.17742
|
NM_147127.5(EVC2):c.-15G>A
|
rs76269601
|
0.07552
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
NM_147127.5(EVC2):c.-19T>C
|
rs188508515
|
0.00890
|
NM_147127.5(EVC2):c.122C>A (p.Pro41His)
|
rs544397395
|
0.00286
|
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)
|
rs557830930
|
0.00085
|
NM_153717.3(EVC):c.569G>T (p.Arg190Leu)
|
rs113002470
|
0.00051
|
NM_147127.5(EVC2):c.2416G>A (p.Val806Met)
|
rs138128087
|
0.00028
|
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)
|
rs767072839
|
0.00006
|
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp)
|
rs776830520
|
0.00003
|
NM_153717.3(EVC):c.1059C>T (p.Ala353=)
|
rs756025432
|
0.00003
|
NM_153717.3(EVC):c.1776+5G>A
|
rs968001713
|
0.00002
|
NM_153717.3(EVC):c.*1684A>G
|
rs886059515
|
0.00001
|
NM_153717.3(EVC):c.1683C>T (p.Val561=)
|
rs913909906
|
0.00001
|
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)
|
rs1373632260
|
0.00001
|
NM_153717.3(EVC):c.1957G>A (p.Gly653Ser)
|
rs762716384
|
0.00001
|
NM_153717.3(EVC):c.2305-5C>G
|
rs760071065
|
0.00001
|
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)
|
rs121908426
|
0.00001
|
NM_147127.5(EVC2):c.1882G>T (p.Glu628Ter)
|
rs186197620
|
|
NM_147127.5(EVC2):c.3793del (p.Leu1265fs)
|
rs587776568
|
|
NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter)
|
rs1577093161
|
|
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter)
|
rs1577093161
|
|
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter)
|
rs1560121645
|
|
NM_147127.5(EVC2):c.449del (p.Leu150fs)
|
rs1308566542
|
|
NM_147127.5(EVC2):c.451-1G>T
|
|
|
NM_147127.5(EVC2):c.50dup (p.Leu18fs)
|
rs1553855151
|
|
NM_153717.3(EVC):c.*704_*705insTT
|
rs886059511
|
|
NM_153717.3(EVC):c.*877C>T
|
rs886059512
|
|
NM_153717.3(EVC):c.-138GA[1]
|
rs886059494
|
|
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)
|
rs2302075
|
|
NM_153717.3(EVC):c.1465-1G>A
|
rs1731156302
|
|
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln)
|
rs1383180
|
|
NM_153717.3(EVC):c.1854C>T (p.Gly618=)
|
rs11737221
|
|
NM_153717.3(EVC):c.1988G>C (p.Arg663Pro)
|
rs372089496
|
|
NM_153717.3(EVC):c.2449+15del
|
rs398092136
|
|
NM_153717.3(EVC):c.2449+8del
|
rs886059507
|
|
NM_153717.3(EVC):c.2554C>G (p.His852Asp)
|
rs574669392
|
|
NM_153717.3(EVC):c.2895-10_2895-9del
|
rs371125826
|
|
NM_153717.3(EVC):c.801+1G>T
|
rs1447653524
|
|