NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
NM_153717.3(EVC):c.1886+5G>T
|
rs794726665
|
0.00036
|
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)
|
rs767072839
|
0.00006
|
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)
|
rs769864196
|
0.00005
|
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)
|
rs137852924
|
0.00004
|
NM_147127.5(EVC2):c.229-2A>G
|
rs769799880
|
0.00004
|
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter)
|
rs965707319
|
0.00003
|
NM_147127.5(EVC2):c.3659+2T>C
|
rs200300612
|
0.00003
|
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter)
|
rs765269619
|
0.00003
|
NM_153717.3(EVC):c.175-2A>G
|
rs767186464
|
0.00003
|
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)
|
rs760382778
|
0.00002
|
NM_147127.5(EVC2):c.2829+1G>A
|
rs752255602
|
0.00002
|
NM_153717.3(EVC):c.2562-2A>G
|
rs1293098417
|
0.00002
|
NM_153717.3(EVC):c.2782+1G>T
|
rs1007534611
|
0.00002
|
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs)
|
rs772840335
|
0.00001
|
NM_147127.5(EVC2):c.1655_1658del (p.Gly552fs)
|
rs1159758018
|
0.00001
|
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer)
|
rs1431987950
|
0.00001
|
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)
|
rs751356206
|
0.00001
|
NM_147127.5(EVC2):c.229-1G>T
|
rs1214848359
|
0.00001
|
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter)
|
rs770918273
|
0.00001
|
NM_147127.5(EVC2):c.3361-2A>G
|
rs1036371676
|
0.00001
|
NM_147127.5(EVC2):c.3361-2del
|
rs757914735
|
0.00001
|
NM_147127.5(EVC2):c.450+2T>C
|
rs781096099
|
0.00001
|
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)
|
rs761707323
|
0.00001
|
NM_147127.5(EVC2):c.62dup (p.Ala22fs)
|
rs1430962566
|
0.00001
|
NM_147127.5(EVC2):c.706+2T>C
|
rs1360260333
|
0.00001
|
NM_147127.5(EVC2):c.893del (p.His298fs)
|
rs777505711
|
0.00001
|
NM_153717.3(EVC):c.1564-2A>G
|
rs1553886849
|
0.00001
|
NM_153717.3(EVC):c.175-9G>A
|
rs753317536
|
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.2078G>A (p.Trp693Ter)
|
rs1714132239
|
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.2894+3A>G
|
rs1424976594
|
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.919T>C (p.Ser307Pro)
|
rs121908426
|
0.00001
|
NC_000004.11:g.(?_5567008)_(5587839_?)dup
|
|
|
NC_000004.11:g.(?_5630335)_(5635926_?)del
|
|
|
NC_000004.11:g.(?_5713108)_(5714221_?)del
|
|
|
NC_000004.11:g.(?_5733142)_(5735172_?)del
|
|
|
NC_000004.11:g.(?_5785269)_(5803831_?)dup
|
|
|
NM_147127.5(EVC2):c.1005+1G>A
|
|
|
NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter)
|
|
|
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs)
|
rs1553855127
|
|
NM_147127.5(EVC2):c.1145+2del
|
|
|
NM_147127.5(EVC2):c.1146-2A>T
|
|
|
NM_147127.5(EVC2):c.1170_1171delinsC (p.Ala391fs)
|
rs1553840713
|
|
NM_147127.5(EVC2):c.1186G>T (p.Glu396Ter)
|
|
|
NM_147127.5(EVC2):c.1261_1262insTATACACATCTGTGATC (p.Ser421fs)
|
|
|
NM_147127.5(EVC2):c.1292_1296del (p.Val431fs)
|
|
|
NM_147127.5(EVC2):c.1313T>A (p.Leu438Ter)
|
|
|
NM_147127.5(EVC2):c.1313del (p.Leu438fs)
|
|
|
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter)
|
rs1477102573
|
|
NM_147127.5(EVC2):c.142_151del (p.Asp49fs)
|
rs1221185345
|
|
NM_147127.5(EVC2):c.1463del (p.Gly488fs)
|
|
|
NM_147127.5(EVC2):c.1470+1G>C
|
rs1577194652
|
|
NM_147127.5(EVC2):c.1470+2T>C
|
|
|
NM_147127.5(EVC2):c.1471-1G>C
|
rs1553837446
|
|
NM_147127.5(EVC2):c.1471-2168_1835del
|
|
|
NM_147127.5(EVC2):c.1511del (p.Gly504fs)
|
|
|
NM_147127.5(EVC2):c.1551_1552insTTTCT (p.Gln518fs)
|
|
|
NM_147127.5(EVC2):c.1552delinsGAGACAGT (p.Gln518fs)
|
|
|
NM_147127.5(EVC2):c.1680_1681del (p.Lys560fs)
|
|
|
NM_147127.5(EVC2):c.1710+1G>A
|
rs2108851279
|
|
NM_147127.5(EVC2):c.1710+2T>C
|
rs2108851273
|
|
NM_147127.5(EVC2):c.1711-1G>A
|
rs1553836169
|
|
NM_147127.5(EVC2):c.1852delinsTCTTT (p.Ala618fs)
|
|
|
NM_147127.5(EVC2):c.1872_1873delinsA (p.Gln625fs)
|
|
|
NM_147127.5(EVC2):c.1887-1G>A
|
rs1490912913
|
|
NM_147127.5(EVC2):c.1896C>G (p.Tyr632Ter)
|
|
|
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs)
|
rs992326794
|
|
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter)
|
rs1367694162
|
|
NM_147127.5(EVC2):c.1997dup (p.Leu667fs)
|
|
|
NM_147127.5(EVC2):c.199_208del (p.Ser67fs)
|
rs1420414097
|
|
NM_147127.5(EVC2):c.2005C>T (p.Gln669Ter)
|
|
|
NM_147127.5(EVC2):c.202_211dup (p.Pro71fs)
|
rs1553855074
|
|
NM_147127.5(EVC2):c.2046+1G>A
|
rs762947212
|
|
NM_147127.5(EVC2):c.2046+1G>C
|
rs762947212
|
|
NM_147127.5(EVC2):c.2046+1G>T
|
rs762947212
|
|
NM_147127.5(EVC2):c.2047-2A>G
|
rs1553833239
|
|
NM_147127.5(EVC2):c.204_210dup (p.Pro71fs)
|
|
|
NM_147127.5(EVC2):c.2053del (p.Glu685fs)
|
|
|
NM_147127.5(EVC2):c.2122_2125delinsAGA (p.His708fs)
|
|
|
NM_147127.5(EVC2):c.2219delinsTTTCT (p.Thr740fs)
|
|
|
NM_147127.5(EVC2):c.222_228+21del
|
rs1484464278
|
|
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)
|
rs1577170055
|
|
NM_147127.5(EVC2):c.2394_2395del (p.Asp799fs)
|
|
|
NM_147127.5(EVC2):c.2501+1G>T
|
|
|
NM_147127.5(EVC2):c.257_260del (p.Val86fs)
|
|
|
NM_147127.5(EVC2):c.2706+1G>A
|
rs2108833043
|
|
NM_147127.5(EVC2):c.2707-1G>A
|
|
|
NM_147127.5(EVC2):c.2707-1G>T
|
rs749251178
|
|
NM_147127.5(EVC2):c.2737A>T (p.Lys913Ter)
|
|
|
NM_147127.5(EVC2):c.2764A>T (p.Lys922Ter)
|
|
|
NM_147127.5(EVC2):c.2829+2T>C
|
|
|
NM_147127.5(EVC2):c.2829+2T>G
|
|
|
NM_147127.5(EVC2):c.2830-1G>A
|
rs1553818428
|
|
NM_147127.5(EVC2):c.2830-1G>T
|
rs1553818428
|
|
NM_147127.5(EVC2):c.2842_2848del (p.Leu948fs)
|
|
|
NM_147127.5(EVC2):c.2851G>T (p.Glu951Ter)
|
|
|
NM_147127.5(EVC2):c.2855_2858delinsCACTCA (p.Arg952fs)
|
|
|
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
|
|
|
NM_147127.5(EVC2):c.2878G>T (p.Glu960Ter)
|
|
|
NM_147127.5(EVC2):c.3043G>T (p.Glu1015Ter)
|
|
|
NM_147127.5(EVC2):c.3057+1G>A
|
rs1307502841
|
|
NM_147127.5(EVC2):c.3058-1G>C
|
|
|
NM_147127.5(EVC2):c.3058-1G>T
|
|
|
NM_147127.5(EVC2):c.3058-2A>G
|
rs760066386
|
|
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)
|
rs886037764
|
|
NM_147127.5(EVC2):c.3169_3182del (p.Ile1057fs)
|
|
|
NM_147127.5(EVC2):c.316A>T (p.Lys106Ter)
|
|
|
NM_147127.5(EVC2):c.3272+1G>T
|
|
|
NM_147127.5(EVC2):c.3273-2A>C
|
rs2108777040
|
|
NM_147127.5(EVC2):c.3273-2del
|
rs768380281
|
|
NM_147127.5(EVC2):c.3279_3282del (p.Glu1094fs)
|
|
|
NM_147127.5(EVC2):c.3360+1G>A
|
rs1553815019
|
|
NM_147127.5(EVC2):c.3411del (p.Thr1138fs)
|
|
|
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs)
|
rs778793911
|
|
NM_147127.5(EVC2):c.3459_3460del (p.Gln1154fs)
|
|
|
NM_147127.5(EVC2):c.3535C>T (p.Gln1179Ter)
|
|
|
NM_147127.5(EVC2):c.3558-2A>G
|
|
|
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter)
|
rs1305301849
|
|
NM_147127.5(EVC2):c.3660-2A>G
|
rs1553811863
|
|
NM_147127.5(EVC2):c.380T>A (p.Leu127Ter)
|
rs2151736638
|
|
NM_147127.5(EVC2):c.437_438del (p.Ile146fs)
|
|
|
NM_147127.5(EVC2):c.450+1G>A
|
rs1447633595
|
|
NM_147127.5(EVC2):c.450+1G>C
|
|
|
NM_147127.5(EVC2):c.450+1del
|
rs1553852469
|
|
NM_147127.5(EVC2):c.450+2T>G
|
|
|
NM_147127.5(EVC2):c.451-1_452del
|
rs1721107398
|
|
NM_147127.5(EVC2):c.451-2A>G
|
rs1553851870
|
|
NM_147127.5(EVC2):c.466del (p.Arg156fs)
|
|
|
NM_147127.5(EVC2):c.50dup (p.Leu18fs)
|
rs1553855151
|
|
NM_147127.5(EVC2):c.520-2A>T
|
|
|
NM_147127.5(EVC2):c.534dup (p.Glu179Ter)
|
rs1553851462
|
|
NM_147127.5(EVC2):c.636_637delinsT (p.Thr213fs)
|
|
|
NM_147127.5(EVC2):c.711_717del (p.Asp238fs)
|
|
|
NM_147127.5(EVC2):c.750_751delinsA (p.Gly251fs)
|
|
|
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter)
|
rs1553850677
|
|
NM_147127.5(EVC2):c.775_781del (p.Leu259fs)
|
|
|
NM_147127.5(EVC2):c.816+2T>A
|
rs1294715119
|
|
NM_147127.5(EVC2):c.816+2T>C
|
rs1294715119
|
|
NM_147127.5(EVC2):c.817-1G>T
|
|
|
NM_147127.5(EVC2):c.817-2A>G
|
rs1553849894
|
|
NM_147127.5(EVC2):c.821_824del (p.Arg274fs)
|
rs1368193719
|
|
NM_147127.5(EVC2):c.870+1G>A
|
rs2151724043
|
|
NM_147127.5(EVC2):c.871-2_894del
|
rs755789146
|
|
NM_147127.5(EVC2):c.916delinsGACGA (p.Phe306fs)
|
|
|
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter)
|
rs763363403
|
|
NM_147127.5(EVC2):c.961del (p.Val321fs)
|
|
|
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del)
|
rs1445771901
|
|
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)
|
rs779915989
|
|
NM_153717.3(EVC):c.1068_1069del (p.Leu357fs)
|
|
|
NM_153717.3(EVC):c.1081_1083delinsA (p.Gln361fs)
|
|
|
NM_153717.3(EVC):c.1098+1G>A
|
|
|
NM_153717.3(EVC):c.1099-1G>A
|
|
|
NM_153717.3(EVC):c.1099-2A>C
|
|
|
NM_153717.3(EVC):c.1113del (p.Thr372fs)
|
rs2152076090
|
|
NM_153717.3(EVC):c.1128_1132del (p.His377fs)
|
|
|
NM_153717.3(EVC):c.1136_1563+515del
|
|
|
NM_153717.3(EVC):c.1148_1152del (p.Glu383fs)
|
|
|
NM_153717.3(EVC):c.1158_1159insACTGTCTCTTATA (p.Leu387fs)
|
|
|
NM_153717.3(EVC):c.1212_1216del (p.Glu405fs)
|
|
|
NM_153717.3(EVC):c.1284_1287del (p.Phe429fs)
|
|
|
NM_153717.3(EVC):c.1290G>A (p.Trp430Ter)
|
|
|
NM_153717.3(EVC):c.1304_1307dup (p.Phe436fs)
|
|
|
NM_153717.3(EVC):c.134G>A (p.Trp45Ter)
|
rs1553857995
|
|
NM_153717.3(EVC):c.1361_1362delinsT (p.His454fs)
|
|
|
NM_153717.3(EVC):c.1373del (p.Gly458fs)
|
rs760607210
|
|
NM_153717.3(EVC):c.13_14insCTCA (p.Gly5fs)
|
|
|
NM_153717.3(EVC):c.1409del (p.Gln470fs)
|
|
|
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.153_174+42del
|
rs1723019796
|
|
NM_153717.3(EVC):c.1572del (p.Phe525fs)
|
|
|
NM_153717.3(EVC):c.1620_1621del (p.Gln541fs)
|
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
NM_153717.3(EVC):c.1750del (p.Gln584fs)
|
rs1736000365
|
|
NM_153717.3(EVC):c.1765del (p.Gln589fs)
|
|
|
NM_153717.3(EVC):c.1776+2T>C
|
|
|
NM_153717.3(EVC):c.1803del (p.Ser602fs)
|
|
|
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)
|
rs1553889992
|
|
NM_153717.3(EVC):c.1880_1881insGA (p.Glu628fs)
|
|
|
NM_153717.3(EVC):c.1886+1G>C
|
rs753679094
|
|
NM_153717.3(EVC):c.1886+2T>G
|
rs1713228964
|
|
NM_153717.3(EVC):c.1887-2A>T
|
|
|
NM_153717.3(EVC):c.1887-5_1904del
|
rs779275317
|
|
NM_153717.3(EVC):c.1A>G (p.Met1Val)
|
|
|
NM_153717.3(EVC):c.2026G>T (p.Glu676Ter)
|
|
|
NM_153717.3(EVC):c.2041G>T (p.Glu681Ter)
|
|
|
NM_153717.3(EVC):c.2097+1G>A
|
|
|
NM_153717.3(EVC):c.2097+1G>T
|
rs1553891368
|
|
NM_153717.3(EVC):c.2097+2del
|
rs2152340942
|
|
NM_153717.3(EVC):c.2098-1G>C
|
rs773019082
|
|
NM_153717.3(EVC):c.2098-2A>G
|
rs1714398710
|
|
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)
|
rs1553891936
|
|
NM_153717.3(EVC):c.2176dup (p.Leu726fs)
|
rs146475474
|
|
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
|
|
|
NM_153717.3(EVC):c.228_234del (p.Ser77fs)
|
|
|
NM_153717.3(EVC):c.2304+2T>C
|
rs1553892090
|
|
NM_153717.3(EVC):c.2436_2437del (p.Lys813fs)
|
|
|
NM_153717.3(EVC):c.2449+1G>A
|
rs1553893423
|
|
NM_153717.3(EVC):c.2449+2T>C
|
|
|
NM_153717.3(EVC):c.2450-1G>A
|
rs1715585498
|
|
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer)
|
rs1553857828
|
|
NM_153717.3(EVC):c.2561+1G>A
|
rs1553894457
|
|
NM_153717.3(EVC):c.2562-3_2584del
|
rs1577663625
|
|
NM_153717.3(EVC):c.2668del (p.Gln890fs)
|
rs1553895755
|
|
NM_153717.3(EVC):c.2677_2688+7del
|
rs2152387946
|
|
NM_153717.3(EVC):c.2688+1G>C
|
rs1553895776
|
|
NM_153717.3(EVC):c.2688+2T>G
|
|
|
NM_153717.3(EVC):c.26_36del (p.Lys9fs)
|
|
|
NM_153717.3(EVC):c.26del (p.Lys9fs)
|
|
|
NM_153717.3(EVC):c.2782+1del
|
rs1169539647
|
|
NM_153717.3(EVC):c.29_30insA (p.Ser10fs)
|
|
|
NM_153717.3(EVC):c.2T>A (p.Met1Lys)
|
rs1553857801
|
|
NM_153717.3(EVC):c.2T>C (p.Met1Thr)
|
|
|
NM_153717.3(EVC):c.300+1G>T
|
|
|
NM_153717.3(EVC):c.301-1G>A
|
rs1363547577
|
|
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)
|
rs748523193
|
|
NM_153717.3(EVC):c.37_40del (p.Arg13fs)
|
|
|
NM_153717.3(EVC):c.37del (p.Arg13fs)
|
|
|
NM_153717.3(EVC):c.384G>T (p.Arg128=)
|
rs1553865346
|
|
NM_153717.3(EVC):c.385-1G>A
|
|
|
NM_153717.3(EVC):c.393del (p.Asp132fs)
|
rs1437174284
|
|
NM_153717.3(EVC):c.39_40del (p.Leu14fs)
|
|
|
NM_153717.3(EVC):c.3_4insTATAAGAGACA (p.Ala2fs)
|
|
|
NM_153717.3(EVC):c.40_41insACTGTCTCTTA (p.Leu14fs)
|
|
|
NM_153717.3(EVC):c.43_44insGTATAAGAGACAG (p.Leu15fs)
|
|
|
NM_153717.3(EVC):c.48_55del (p.Gly17fs)
|
|
|
NM_153717.3(EVC):c.54_61del (p.Asp19fs)
|
|
|
NM_153717.3(EVC):c.56_174+42del
|
|
|
NM_153717.3(EVC):c.59_60insA (p.Leu21fs)
|
|
|
NM_153717.3(EVC):c.60_61insACTGTCTCTTATA (p.Leu21fs)
|
|
|
NM_153717.3(EVC):c.617+1G>A
|
rs1726841476
|
|
NM_153717.3(EVC):c.617+2T>A
|
|
|
NM_153717.3(EVC):c.636T>A (p.Cys212Ter)
|
|
|
NM_153717.3(EVC):c.64_79del (p.Arg22fs)
|
|
|
NM_153717.3(EVC):c.650_651del (p.His217fs)
|
|
|
NM_153717.3(EVC):c.698dup (p.His233fs)
|
rs1553867117
|
|
NM_153717.3(EVC):c.703-1G>A
|
rs1485152854
|
|
NM_153717.3(EVC):c.703-1G>C
|
rs1485152854
|
|
NM_153717.3(EVC):c.708del (p.Phe236fs)
|
|
|
NM_153717.3(EVC):c.720del (p.Phe240fs)
|
rs1553871764
|
|
NM_153717.3(EVC):c.752dup (p.Lys252fs)
|
rs1553871792
|
|
NM_153717.3(EVC):c.787_788delinsA (p.Ser263fs)
|
|
|
NM_153717.3(EVC):c.801+1G>T
|
|
|
NM_153717.3(EVC):c.801+2T>C
|
|
|
NM_153717.3(EVC):c.801+2T>G
|
rs1553871866
|
|
NM_153717.3(EVC):c.802-1G>C
|
rs150814290
|
|
NM_153717.3(EVC):c.802-2A>G
|
|
|
NM_153717.3(EVC):c.840_846del (p.Ser281fs)
|
|
|
NM_153717.3(EVC):c.857C>A (p.Ser286Ter)
|
|
|
NM_153717.3(EVC):c.8_9insTGCTGCTGAGTGT (p.Gly4fs)
|
|
|
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)
|
rs755381180
|
|
NM_153717.3(EVC):c.910del (p.Arg304fs)
|
|
|
NM_153717.3(EVC):c.939+1G>A
|
rs1553873138
|
|
NM_153717.3(EVC):c.939+1G>C
|
rs1553873138
|
|
NM_153717.3(EVC):c.940-150T>G
|
rs576076928
|
|
NM_153717.3(EVC):c.985_986insATCTT (p.Val329fs)
|
|
|
NM_153717.3(EVC):c.999_1000insAACATTC (p.Cys334fs)
|
|
|