NM_207122.2(EXT2):c.1496-195C>T
|
rs1027377
|
0.90953
|
NM_207122.2(EXT2):c.1080-138T>C
|
rs7125352
|
0.90853
|
NM_207122.2(EXT2):c.1080-18T>A
|
rs11037882
|
0.26140
|
NM_207122.2(EXT2):c.1807-51T>C
|
rs11037909
|
0.25427
|
NM_207122.2(EXT2):c.-30-147A>T
|
rs11037864
|
0.24476
|
NM_207122.2(EXT2):c.1080-115G>T
|
rs11037881
|
0.24003
|
NM_207122.2(EXT2):c.1936-41T>C
|
rs3740878
|
0.23855
|
NM_207122.2(EXT2):c.536+132G>C
|
rs4755780
|
0.18716
|
NM_207122.2(EXT2):c.1305+126T>C
|
rs72903909
|
0.06164
|
NM_207122.2(EXT2):c.537-79A>C
|
rs77233576
|
0.05805
|
NM_207122.2(EXT2):c.743+143C>T
|
rs11606743
|
0.03870
|
NM_207122.2(EXT2):c.1305+254G>C
|
rs12791572
|
0.03058
|
NM_207122.2(EXT2):c.744-83_744-82insG
|
rs200495080
|
0.02755
|
NM_207122.2(EXT2):c.-31+474G>A
|
rs112082531
|
0.02206
|
NM_207122.2(EXT2):c.124A>G (p.Met42Val)
|
rs4755779
|
0.01478
|
NM_207122.2(EXT2):c.-30-80A>C
|
rs75844681
|
0.01471
|
NM_207122.2(EXT2):c.999T>C (p.Asp333=)
|
rs61733300
|
0.01271
|
NM_207122.2(EXT2):c.-31+657G>A
|
rs74980806
|
0.01266
|
NM_207122.2(EXT2):c.939+30G>A
|
rs77931461
|
0.01212
|
NM_207122.2(EXT2):c.1174-18G>T
|
rs143595300
|
0.01161
|
NM_207122.2(EXT2):c.940-203A>G
|
rs111293320
|
0.01038
|
NM_207122.2(EXT2):c.1017T>C (p.Cys339=)
|
rs11828047
|
0.00930
|
NM_207122.2(EXT2):c.1936-66G>C
|
rs112586310
|
0.00811
|
NM_207122.2(EXT2):c.1936-179C>T
|
rs117782883
|
0.00722
|
NM_207122.2(EXT2):c.1110G>T (p.Met370Ile)
|
rs34084767
|
0.00538
|
NM_207122.2(EXT2):c.627-187T>A
|
rs76386814
|
0.00502
|
NM_207122.2(EXT2):c.1496-109G>A
|
rs114748639
|
0.00481
|
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln)
|
rs138187791
|
0.00113
|
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys)
|
rs148711133
|
0.00079
|
NM_207122.2(EXT2):c.965G>A (p.Arg322His)
|
rs149727518
|
0.00076
|
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met)
|
rs138495222
|
0.00063
|
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu)
|
rs147753803
|
0.00048
|
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)
|
rs141035971
|
0.00044
|
NM_207122.2(EXT2):c.260T>G (p.Met87Arg)
|
rs140075817
|
0.00031
|
NM_207122.2(EXT2):c.1645C>T (p.Leu549=)
|
rs142565472
|
0.00025
|
NM_207122.2(EXT2):c.605C>T (p.Ala202Val)
|
rs771803942
|
0.00007
|
NM_207122.2(EXT2):c.284G>A (p.Arg95His)
|
rs143703574
|
0.00005
|
NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys)
|
rs146316660
|
0.00005
|
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
|
rs765648513
|
0.00004
|
NM_207122.2(EXT2):c.1564C>T (p.Arg522Cys)
|
rs145507609
|
0.00003
|
NM_207122.2(EXT2):c.626+3A>C
|
rs200934340
|
0.00003
|
NM_207122.2(EXT2):c.1123A>G (p.Ser375Gly)
|
rs369029338
|
0.00001
|
NM_207122.2(EXT2):c.1305+2T>C
|
rs202153611
|
0.00001
|
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln)
|
rs773705067
|
0.00001
|
NM_207122.2(EXT2):c.636G>T (p.Leu212Phe)
|
rs532468542
|
0.00001
|
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp)
|
rs201062014
|
0.00001
|
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter)
|
rs754533434
|
0.00001
|
NM_207122.2(EXT2):c.-31+496T>G
|
rs11037860
|
|
NM_207122.2(EXT2):c.1021C>A (p.Pro341Thr)
|
rs1131691261
|
|
NM_207122.2(EXT2):c.1102G>A (p.Glu368Lys)
|
rs1590575116
|
|
NM_207122.2(EXT2):c.1174-270C>A
|
rs4755788
|
|
NM_207122.2(EXT2):c.1179dup (p.Trp394fs)
|
rs1955074882
|
|
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter)
|
rs1191238988
|
|
NM_207122.2(EXT2):c.1182G>A (p.Trp394Ter)
|
rs1555012835
|
|
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter)
|
rs1448103584
|
|
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs)
|
rs1590618958
|
|
NM_207122.2(EXT2):c.1301C>T (p.Ala434Val)
|
|
|
NM_207122.2(EXT2):c.1496-204_1496-195del
|
|
|
NM_207122.2(EXT2):c.1496-209del
|
|
|
NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)
|
|
|
NM_207122.2(EXT2):c.1706G>A (p.Arg569His)
|
|
|
NM_207122.2(EXT2):c.1744T>C (p.Tyr582His)
|
|
|
NM_207122.2(EXT2):c.1929del (p.Ile644fs)
|
rs1064796192
|
|
NM_207122.2(EXT2):c.1936-134GT[10]
|
rs3832748
|
|
NM_207122.2(EXT2):c.1996G>T (p.Asp666Tyr)
|
rs1441921649
|
|
NM_207122.2(EXT2):c.2084G>A (p.Arg695Gln)
|
rs1956071680
|
|
NM_207122.2(EXT2):c.2155T>G (p.Ter719Gly)
|
rs1057520184
|
|
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala)
|
rs534539796
|
|
NM_207122.2(EXT2):c.245dup (p.Asp82fs)
|
rs1555002460
|
|
NM_207122.2(EXT2):c.28C>A (p.Arg10=)
|
rs4755228
|
|
NM_207122.2(EXT2):c.307A>G (p.Lys103Glu)
|
rs907886635
|
|
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln)
|
rs1954086080
|
|
NM_207122.2(EXT2):c.398_401dup (p.Met135fs)
|
rs886041272
|
|
NM_207122.2(EXT2):c.404T>C (p.Met135Thr)
|
rs2134967784
|
|
NM_207122.2(EXT2):c.422A>T (p.Asp141Val)
|
|
|
NM_207122.2(EXT2):c.442_455del (p.Asn148fs)
|
rs1590548183
|
|
NM_207122.2(EXT2):c.481_482dup (p.Asn161fs)
|
rs1590548336
|
|
NM_207122.2(EXT2):c.484C>T (p.Gln162Ter)
|
rs2134968489
|
|
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter)
|
rs121918279
|
|
NM_207122.2(EXT2):c.519G>C (p.Ala173=)
|
rs148121594
|
|
NM_207122.2(EXT2):c.520A>C (p.Met174Leu)
|
rs111589746
|
|
NM_207122.2(EXT2):c.536+1G>A
|
rs1954091762
|
|
NM_207122.2(EXT2):c.539G>A (p.Trp180Ter)
|
rs886039565
|
|
NM_207122.2(EXT2):c.540G>A (p.Trp180Ter)
|
rs2134971524
|
|
NM_207122.2(EXT2):c.544C>T (p.Arg182Ter)
|
rs886039358
|
|
NM_207122.2(EXT2):c.553_558del (p.Asn185_His186del)
|
rs761364688
|
|
NM_207122.2(EXT2):c.56del (p.Lys19fs)
|
rs1085307877
|
|
NM_207122.2(EXT2):c.580G>T (p.Gly194Ter)
|
rs886039566
|
|
NM_207122.2(EXT2):c.626+1G>A
|
rs1057521132
|
|
NM_207122.2(EXT2):c.626+1G>T
|
rs1057521132
|
|
NM_207122.2(EXT2):c.626+262C>G
|
rs76685253
|
|
NM_207122.2(EXT2):c.627-2A>G
|
rs1064793854
|
|
NM_207122.2(EXT2):c.670C>T (p.Gln224Ter)
|
rs1565199251
|
|
NM_207122.2(EXT2):c.678C>G (p.Tyr226Ter)
|
|
|
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn)
|
rs121918280
|
|
NM_207122.2(EXT2):c.740C>A (p.Pro247Gln)
|
rs372237191
|
|
NM_207122.2(EXT2):c.743+1G>A
|
rs886039567
|
|
NM_207122.2(EXT2):c.743+1_743+2dup
|
rs1590555709
|
|
NM_207122.2(EXT2):c.744-82A>G
|
rs10769018
|
|
NM_207122.2(EXT2):c.744-82A>T
|
rs10769018
|
|
NM_207122.2(EXT2):c.785dup (p.His262fs)
|
rs1555005328
|
|
NM_207122.2(EXT2):c.795C>G (p.Tyr265Ter)
|
|
|
NM_207122.2(EXT2):c.817C>T (p.Gln273Ter)
|
rs1954375189
|
|
NM_207122.2(EXT2):c.829G>T (p.Gly277Ter)
|
|
|
NM_207122.2(EXT2):c.871G>T (p.Glu291Ter)
|
|
|
NM_207122.2(EXT2):c.87_88del (p.Phe30fs)
|
rs886039744
|
|
NM_207122.2(EXT2):c.906_907dup (p.His303fs)
|
rs886041199
|
|
NM_207122.2(EXT2):c.937C>T (p.Gln313Ter)
|
rs763718818
|
|
NM_207122.2(EXT2):c.93del (p.Ile32fs)
|
|
|
NM_207122.2(EXT2):c.940-79A>C
|
|
|
NM_207122.2(EXT2):c.979G>C (p.Gly327Arg)
|
rs200427972
|
|