NM_153717.3(EVC):c.1886+5G>T
|
rs794726665
|
0.00036
|
NM_147127.5(EVC2):c.229-2A>G
|
rs769799880
|
0.00004
|
NM_153717.3(EVC):c.175-2A>G
|
rs767186464
|
0.00003
|
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.229-1G>T
|
rs1214848359
|
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.706+2T>C
|
rs1360260333
|
0.00001
|
NM_153717.3(EVC):c.175-9G>A
|
rs753317536
|
0.00001
|
NM_153717.3(EVC):c.2098-1G>A
|
rs773019082
|
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.1145+2del
|
|
|
NM_147127.5(EVC2):c.1146-2A>T
|
|
|
NM_147127.5(EVC2):c.1470+1G>C
|
rs1577194652
|
|
NM_147127.5(EVC2):c.1470+2T>C
|
|
|
NM_147127.5(EVC2):c.1471-2168_1835del
|
|
|
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.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.222_228+21del
|
rs1484464278
|
|
NM_147127.5(EVC2):c.2501+1G>T
|
|
|
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.2829+2T>C
|
|
|
NM_147127.5(EVC2):c.2829+2T>G
|
|
|
NM_147127.5(EVC2):c.2830-1G>T
|
rs1553818428
|
|
NM_147127.5(EVC2):c.3058-1G>C
|
|
|
NM_147127.5(EVC2):c.3058-1G>T
|
|
|
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.3558-2A>G
|
|
|
NM_147127.5(EVC2):c.450+1G>C
|
|
|
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.520-2A>T
|
|
|
NM_147127.5(EVC2):c.816+2T>A
|
rs1294715119
|
|
NM_147127.5(EVC2):c.817-1G>T
|
|
|
NM_147127.5(EVC2):c.870+1G>A
|
rs2151724043
|
|
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del)
|
rs1445771901
|
|
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.1136_1563+515del
|
|
|
NM_153717.3(EVC):c.153_174+42del
|
rs1723019796
|
|
NM_153717.3(EVC):c.1776+2T>C
|
|
|
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.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.2098-2A>G
|
rs1714398710
|
|
NM_153717.3(EVC):c.2304+2T>C
|
rs1553892090
|
|
NM_153717.3(EVC):c.2449+1G>A
|
rs1553893423
|
|
NM_153717.3(EVC):c.2449+2T>C
|
|
|
NM_153717.3(EVC):c.2562-3_2584del
|
rs1577663625
|
|
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.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.385-1G>A
|
|
|
NM_153717.3(EVC):c.56_174+42del
|
|
|
NM_153717.3(EVC):c.617+1G>A
|
rs1726841476
|
|
NM_153717.3(EVC):c.617+2T>A
|
|
|
NM_153717.3(EVC):c.703-1G>C
|
rs1485152854
|
|
NM_153717.3(EVC):c.801+1G>T
|
|
|
NM_153717.3(EVC):c.801+2T>C
|
|
|
NM_153717.3(EVC):c.802-2A>G
|
|
|
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)
|
rs755381180
|
|
NM_153717.3(EVC):c.939+1G>A
|
rs1553873138
|
|
NM_153717.3(EVC):c.940-150T>G
|
rs576076928
|
|