NM_153717.3(EVC):c.1694del (p.Ala565fs)
|
rs753014919
|
0.00012
|
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)
|
rs121908425
|
0.00003
|
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter)
|
rs765269619
|
0.00003
|
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
|
rs767400887
|
0.00003
|
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)
|
rs121908424
|
0.00002
|
NM_153717.3(EVC):c.1021C>T (p.Gln341Ter)
|
rs1729663828
|
0.00001
|
NM_153717.3(EVC):c.1324C>T (p.Gln442Ter)
|
rs753152908
|
0.00001
|
NM_153717.3(EVC):c.1387dup (p.Thr463fs)
|
rs1317662938
|
0.00001
|
NM_153717.3(EVC):c.1489C>T (p.Gln497Ter)
|
rs1460597472
|
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.2014C>T (p.Gln672Ter)
|
rs774949132
|
0.00001
|
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter)
|
rs1714132239
|
0.00001
|
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter)
|
rs1446547358
|
0.00001
|
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter)
|
rs374752679
|
0.00001
|
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)
|
rs896581899
|
0.00001
|
NM_153717.3(EVC):c.2894+3A>G
|
rs1424976594
|
0.00001
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
NM_153717.3(EVC):c.773dup (p.Tyr258Ter)
|
rs748201094
|
0.00001
|
NM_153717.3(EVC):c.873dup (p.Glu292Ter)
|
rs527255616
|
0.00001
|
NM_153717.3(EVC):c.918C>A (p.Tyr306Ter)
|
rs1560323242
|
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
|
NC_000004.11:g.(?_5711924)_(5817031_?)del
|
|
|
NC_000004.11:g.(?_5749725)_(5755670_?)del
|
|
|
NC_000004.11:g.(?_5754553)_(5755670_?)del
|
|
|
NC_000004.11:g.(?_5754553)_(5758099_?)del
|
|
|
NC_000004.11:g.(?_5754553)_(5785501_?)del
|
|
|
NC_000004.11:g.(?_5785269)_(5812774_?)del
|
|
|
NC_000004.11:g.(?_5798739)_(5798969_?)del
|
|
|
NC_000004.11:g.(?_5803667)_(5806578_?)del
|
|
|
NC_000004.11:g.(?_5809918)_(5811348_?)del
|
|
|
NC_000004.12:g.(?_5729297)_(5758135_?)del
|
|
|
NC_000004.12:g.(?_5797002)_(5797252_?)del
|
|
|
NC_000004.12:g.5719249_5719252del
|
|
|
NC_000004.12:g.5729307del
|
|
|
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs)
|
rs767913372
|
|
NM_153717.3(EVC):c.1047_1048del (p.Arg349fs)
|
rs745627738
|
|
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.1084G>T (p.Glu362Ter)
|
|
|
NM_153717.3(EVC):c.1086del (p.Glu362fs)
|
|
|
NM_153717.3(EVC):c.1114del (p.Thr372fs)
|
|
|
NM_153717.3(EVC):c.1122dup (p.Arg375fs)
|
|
|
NM_153717.3(EVC):c.1168C>T (p.Gln390Ter)
|
rs1560340266
|
|
NM_153717.3(EVC):c.1228G>T (p.Glu410Ter)
|
rs2152076522
|
|
NM_153717.3(EVC):c.1233dup (p.Lys412fs)
|
|
|
NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs)
|
rs1730623318
|
|
NM_153717.3(EVC):c.1269_1278del (p.Gln424fs)
|
|
|
NM_153717.3(EVC):c.1290_1291delinsAA (p.Trp430_Gln431delinsTer)
|
rs2152076745
|
|
NM_153717.3(EVC):c.1312del (p.Arg438fs)
|
rs1560340993
|
|
NM_153717.3(EVC):c.1327C>T (p.Arg443Ter)
|
rs1730760070
|
|
NM_153717.3(EVC):c.1373del (p.Gly458fs)
|
rs760607210
|
|
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs)
|
rs1553876034
|
|
NM_153717.3(EVC):c.1412_1413del (p.Arg471fs)
|
|
|
NM_153717.3(EVC):c.1462G>T (p.Glu488Ter)
|
|
|
NM_153717.3(EVC):c.1494del (p.Arg498fs)
|
rs2152094799
|
|
NM_153717.3(EVC):c.1501C>T (p.Gln501Ter)
|
rs373088008
|
|
NM_153717.3(EVC):c.1539del (p.Glu514fs)
|
rs759106605
|
|
NM_153717.3(EVC):c.155del (p.Arg52fs)
|
rs1439712140
|
|
NM_153717.3(EVC):c.1572C>G (p.Tyr524Ter)
|
|
|
NM_153717.3(EVC):c.157C>T (p.Gln53Ter)
|
|
|
NM_153717.3(EVC):c.1618del (p.Leu540fs)
|
|
|
NM_153717.3(EVC):c.1652del (p.Pro551fs)
|
rs1312383000
|
|
NM_153717.3(EVC):c.1652dup (p.Glu552fs)
|
|
|
NM_153717.3(EVC):c.1657G>T (p.Glu553Ter)
|
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter)
|
rs751772225
|
|
NM_153717.3(EVC):c.1687G>T (p.Glu563Ter)
|
rs539010490
|
|
NM_153717.3(EVC):c.174+1G>T
|
rs2151768710
|
|
NM_153717.3(EVC):c.1746_1747del (p.Phe583fs)
|
rs2152289369
|
|
NM_153717.3(EVC):c.1750del (p.Gln584fs)
|
rs1736000365
|
|
NM_153717.3(EVC):c.1750dup (p.Gln584fs)
|
|
|
NM_153717.3(EVC):c.1777-2A>C
|
|
|
NM_153717.3(EVC):c.1783_1886+40del
|
rs2152326431
|
|
NM_153717.3(EVC):c.1818_1821del (p.His607fs)
|
rs2152326544
|
|
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter)
|
rs1329006994
|
|
NM_153717.3(EVC):c.186_187del (p.Gln63fs)
|
|
|
NM_153717.3(EVC):c.1884_1885insCA (p.Glu629fs)
|
rs2152326770
|
|
NM_153717.3(EVC):c.1886+5G>A
|
rs794726665
|
|
NM_153717.3(EVC):c.1900del (p.Val634fs)
|
|
|
NM_153717.3(EVC):c.1971del (p.Thr658fs)
|
rs2152340509
|
|
NM_153717.3(EVC):c.2029C>T (p.Gln677Ter)
|
|
|
NM_153717.3(EVC):c.203del (p.Asn68fs)
|
rs1560274093
|
|
NM_153717.3(EVC):c.2079G>A (p.Trp693Ter)
|
|
|
NM_153717.3(EVC):c.2088_2089dup (p.Arg697fs)
|
|
|
NM_153717.3(EVC):c.2089_2090del (p.Arg697fs)
|
|
|
NM_153717.3(EVC):c.2126_2129dup (p.Glu711fs)
|
|
|
NM_153717.3(EVC):c.2145_2146insGCCC (p.Gln716fs)
|
rs2152345583
|
|
NM_153717.3(EVC):c.2146C>T (p.Gln716Ter)
|
rs1714412021
|
|
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)
|
rs1553891936
|
|
NM_153717.3(EVC):c.2167C>T (p.Gln723Ter)
|
|
|
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
|
|
|
NM_153717.3(EVC):c.2365del (p.Leu789fs)
|
|
|
NM_153717.3(EVC):c.2379T>G (p.Tyr793Ter)
|
|
|
NM_153717.3(EVC):c.2382C>A (p.Tyr794Ter)
|
|
|
NM_153717.3(EVC):c.2399_2408del (p.Ile800fs)
|
|
|
NM_153717.3(EVC):c.241dup (p.Ser81fs)
|
|
|
NM_153717.3(EVC):c.2457del (p.Met820fs)
|
rs794726666
|
|
NM_153717.3(EVC):c.2472dup (p.Leu825fs)
|
|
|
NM_153717.3(EVC):c.2488G>T (p.Glu830Ter)
|
rs2152375194
|
|
NM_153717.3(EVC):c.248C>G (p.Ser83Ter)
|
|
|
NM_153717.3(EVC):c.2518_2528del (p.Thr840fs)
|
|
|
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter)
|
rs561852174
|
|
NM_153717.3(EVC):c.2561+1dup
|
rs2152375437
|
|
NM_153717.3(EVC):c.2634_2635delinsTT (p.Gln878_Gln879delinsHisTer)
|
rs2152387847
|
|
NM_153717.3(EVC):c.2662G>T (p.Glu888Ter)
|
|
|
NM_153717.3(EVC):c.267_274del (p.Glu89fs)
|
rs2151842413
|
|
NM_153717.3(EVC):c.2686C>T (p.Gln896Ter)
|
|
|
NM_153717.3(EVC):c.2698C>T (p.Gln900Ter)
|
rs1039706882
|
|
NM_153717.3(EVC):c.2705del (p.Phe902fs)
|
rs2152391901
|
|
NM_153717.3(EVC):c.2782+1del
|
rs1169539647
|
|
NM_153717.3(EVC):c.286A>T (p.Lys96Ter)
|
rs2151842550
|
|
NM_153717.3(EVC):c.338dup (p.Ala114fs)
|
rs2151919221
|
|
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)
|
rs748523193
|
|
NM_153717.3(EVC):c.369del (p.Asn124fs)
|
|
|
NM_153717.3(EVC):c.37_38del (p.Arg13fs)
|
rs1722986802
|
|
NM_153717.3(EVC):c.393del (p.Asp132fs)
|
rs1437174284
|
|
NM_153717.3(EVC):c.478_481del (p.Ser160fs)
|
rs2151935449
|
|
NM_153717.3(EVC):c.528del (p.Ser177fs)
|
rs1381525157
|
|
NM_153717.3(EVC):c.539C>A (p.Ser180Ter)
|
rs762136199
|
|
NM_153717.3(EVC):c.568dup (p.Arg190fs)
|
|
|
NM_153717.3(EVC):c.583del (p.Arg194_Val195insTer)
|
rs2151935987
|
|
NM_153717.3(EVC):c.596del (p.Pro199fs)
|
|
|
NM_153717.3(EVC):c.612C>A (p.Cys204Ter)
|
rs553634958
|
|
NM_153717.3(EVC):c.613G>T (p.Glu205Ter)
|
|
|
NM_153717.3(EVC):c.618-2A>G
|
|
|
NM_153717.3(EVC):c.62_68dup (p.Pro25fs)
|
|
|
NM_153717.3(EVC):c.635del (p.Cys212fs)
|
rs2151945937
|
|
NM_153717.3(EVC):c.641dup (p.Tyr214Ter)
|
|
|
NM_153717.3(EVC):c.653T>G (p.Leu218Ter)
|
|
|
NM_153717.3(EVC):c.673del (p.Asp225fs)
|
rs2151946081
|
|
NM_153717.3(EVC):c.698dup (p.His233fs)
|
rs1553867117
|
|
NM_153717.3(EVC):c.708dup (p.Ile237fs)
|
|
|
NM_153717.3(EVC):c.720dup (p.Lys241Ter)
|
rs1553871764
|
|
NM_153717.3(EVC):c.721A>T (p.Lys241Ter)
|
rs2152000498
|
|
NM_153717.3(EVC):c.724dup (p.Met242fs)
|
rs1577395250
|
|
NM_153717.3(EVC):c.752dup (p.Lys252fs)
|
rs1553871792
|
|
NM_153717.3(EVC):c.784del (p.Leu262fs)
|
rs1560315890
|
|
NM_153717.3(EVC):c.784dup (p.Leu262fs)
|
|
|
NM_153717.3(EVC):c.788C>G (p.Ser263Ter)
|
rs2152001027
|
|
NM_153717.3(EVC):c.829C>T (p.Gln277Ter)
|
rs1251648799
|
|
NM_153717.3(EVC):c.872_873del (p.Asp290_Ser291insTer)
|
|
|
NM_153717.3(EVC):c.903_909delinsTC (p.Lys301fs)
|
rs1729197529
|
|
NM_153717.3(EVC):c.90del (p.Ala31fs)
|
rs1196950486
|
|
NM_153717.3(EVC):c.910dup (p.Arg304fs)
|
rs1428798262
|
|
NM_153717.3(EVC):c.922_923del (p.Glu308fs)
|
rs1729200967
|
|
NM_153717.3(EVC):c.958C>T (p.Gln320Ter)
|
|
|
NM_153717.3(EVC):c.973C>T (p.Gln325Ter)
|
rs1729654379
|
|
NM_153717.3(EVC):c.986_987del (p.Val329fs)
|
|
|