NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
NM_153717.3(EVC):c.1886+5G>T
|
rs794726665
|
0.00036
|
NM_153717.3(EVC):c.1694del (p.Ala565fs)
|
rs753014919
|
0.00012
|
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)
|
rs199916502
|
0.00011
|
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)
|
rs121908425
|
0.00003
|
NM_153717.3(EVC):c.2782+1G>T
|
rs1007534611
|
0.00002
|
NM_153717.3(EVC):c.1564-2A>G
|
rs1553886849
|
0.00001
|
NM_153717.3(EVC):c.1777-1G>A
|
rs1262933856
|
0.00001
|
NM_153717.3(EVC):c.1777-2A>G
|
rs909612975
|
0.00001
|
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)
|
rs1373632260
|
0.00001
|
NM_153717.3(EVC):c.2098-1G>A
|
rs773019082
|
0.00001
|
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)
|
rs896581899
|
0.00001
|
NM_153717.3(EVC):c.364C>T (p.Pro122Ser)
|
rs1407007311
|
0.00001
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
NM_153717.3(EVC):c.702+1G>A
|
rs1553867138
|
0.00001
|
NM_153717.3(EVC):c.835_837del (p.Lys279del)
|
rs761463883
|
0.00001
|
NM_153717.3(EVC):c.873dup (p.Glu292Ter)
|
rs527255616
|
0.00001
|
NM_153717.3(EVC):c.884C>G (p.Thr295Ser)
|
rs754532508
|
0.00001
|
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)
|
rs121908426
|
0.00001
|
NM_153717.3(EVC):c.928C>G (p.Leu310Val)
|
rs145300726
|
0.00001
|
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs)
|
rs1553873969
|
|
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)
|
rs779915989
|
|
NM_153717.3(EVC):c.1084_1086del (p.Glu362del)
|
rs1553873980
|
|
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])
|
rs1164121689
|
|
NM_153717.3(EVC):c.1252_1254del (p.Lys418del)
|
rs1553875708
|
|
NM_153717.3(EVC):c.1269GCA[2] (p.Gln425del)
|
rs1553875724
|
|
NM_153717.3(EVC):c.127_132dup (p.39_40GL[4])
|
rs1553857987
|
|
NM_153717.3(EVC):c.1286_1288del (p.Phe429del)
|
rs1553875733
|
|
NM_153717.3(EVC):c.134G>A (p.Trp45Ter)
|
rs1553857995
|
|
NM_153717.3(EVC):c.1373del (p.Gly458fs)
|
rs760607210
|
|
NM_153717.3(EVC):c.1464+20T>C
|
rs886038740
|
|
NM_153717.3(EVC):c.1465-3_1472del
|
rs1300178432
|
|
NM_153717.3(EVC):c.1473dup (p.Glu492Ter)
|
rs1553876813
|
|
NM_153717.3(EVC):c.1539del (p.Glu514fs)
|
rs759106605
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
NM_153717.3(EVC):c.1786GAG[1] (p.Glu597del)
|
rs764533114
|
|
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)
|
rs1553889992
|
|
NM_153717.3(EVC):c.1887-5_1904del
|
rs779275317
|
|
NM_153717.3(EVC):c.1922_1927del (p.Leu641_Leu642del)
|
rs1553891170
|
|
NM_153717.3(EVC):c.1940_1951del (p.Arg647_Ala650del)
|
rs1553891205
|
|
NM_153717.3(EVC):c.2097+1G>T
|
rs1553891368
|
|
NM_153717.3(EVC):c.2114AGG[1] (p.Glu706del)
|
rs1553891884
|
|
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)
|
rs1553891936
|
|
NM_153717.3(EVC):c.2176dup (p.Leu726fs)
|
rs146475474
|
|
NM_153717.3(EVC):c.2304+2T>C
|
rs1553892090
|
|
NM_153717.3(EVC):c.2440_2445dup (p.Thr814_Leu815dup)
|
rs1553893407
|
|
NM_153717.3(EVC):c.2449+1G>A
|
rs1553893423
|
|
NM_153717.3(EVC):c.2561+12_2561+23del
|
rs1199616057
|
|
NM_153717.3(EVC):c.2561+12_2561+23dup
|
rs1199616057
|
|
NM_153717.3(EVC):c.2561+1G>A
|
rs1553894457
|
|
NM_153717.3(EVC):c.2668del (p.Gln890fs)
|
rs1553895755
|
|
NM_153717.3(EVC):c.2688+1G>C
|
rs1553895776
|
|
NM_153717.3(EVC):c.2688+4_2688+5insGGTCTCCAGCTACAGGTAC
|
rs1553895769
|
|
NM_153717.3(EVC):c.2782+1del
|
rs1169539647
|
|
NM_153717.3(EVC):c.2829_2830del (p.Asp945fs)
|
rs1460851298
|
|
NM_153717.3(EVC):c.2842dup (p.Val948fs)
|
rs1553896459
|
|
NM_153717.3(EVC):c.2893dup (p.Ser965fs)
|
rs1553896497
|
|
NM_153717.3(EVC):c.2916_2935del (p.Glu973fs)
|
rs1553896708
|
|
NM_153717.3(EVC):c.2920del (p.Ser974fs)
|
rs1370417156
|
|
NM_153717.3(EVC):c.301-1G>A
|
rs1363547577
|
|
NM_153717.3(EVC):c.303_308del (p.Cys102_Glu103del)
|
rs1553865272
|
|
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)
|
rs748523193
|
|
NM_153717.3(EVC):c.384+5G>C
|
rs1553865348
|
|
NM_153717.3(EVC):c.40CTG[2] (p.Leu16del)
|
rs1553857864
|
|
NM_153717.3(EVC):c.698dup (p.His233fs)
|
rs1553867117
|
|
NM_153717.3(EVC):c.703-1G>A
|
rs1485152854
|
|
NM_153717.3(EVC):c.720del (p.Phe240fs)
|
rs1553871764
|
|
NM_153717.3(EVC):c.72_86dup (p.Leu27_Ala31dup)
|
rs1553857901
|
|
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro)
|
rs529818833
|
|
NM_153717.3(EVC):c.740TTC[1] (p.Leu248del)
|
rs1278946084
|
|
NM_153717.3(EVC):c.751AAG[1] (p.Lys252del)
|
rs1232712590
|
|
NM_153717.3(EVC):c.752dup (p.Lys252fs)
|
rs1553871792
|
|
NM_153717.3(EVC):c.79_93del (p.Leu27_Ala31del)
|
rs1553857904
|
|
NM_153717.3(EVC):c.801+2T>G
|
rs1553871866
|
|
NM_153717.3(EVC):c.802-1G>C
|
rs150814290
|
|
NM_153717.3(EVC):c.939+1G>C
|
rs1553873138
|
|
NM_153717.3(EVC):c.99_113dup (p.Leu34_Leu38dup)
|
rs1229967881
|
|