NM_153717.3(EVC):c.802-15del
|
rs369153323
|
0.10885
|
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val)
|
rs75829835
|
0.01478
|
NM_153717.3(EVC):c.2363G>A (p.Arg788His)
|
rs73795088
|
0.01159
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
NM_147127.5(EVC2):c.1471-6C>T
|
rs115466792
|
0.00162
|
NM_147127.5(EVC2):c.2060G>A (p.Arg687His)
|
rs144420242
|
0.00054
|
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu)
|
rs145425340
|
0.00046
|
NM_153717.3(EVC):c.1892C>T (p.Thr631Met)
|
rs139481521
|
0.00041
|
NM_153717.3(EVC):c.1886+5G>T
|
rs794726665
|
0.00036
|
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly)
|
rs373726507
|
0.00028
|
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile)
|
rs199824658
|
0.00022
|
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys)
|
rs555666020
|
0.00021
|
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys)
|
rs572056540
|
0.00017
|
NM_147127.5(EVC2):c.1929G>C (p.Glu643Asp)
|
rs151063193
|
0.00016
|
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp)
|
rs137852928
|
0.00013
|
NM_153717.3(EVC):c.2341G>A (p.Val781Met)
|
rs370514515
|
0.00011
|
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)
|
rs137852927
|
0.00008
|
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu)
|
rs145758016
|
0.00008
|
NM_147127.5(EVC2):c.1470+3A>T
|
rs370769794
|
0.00007
|
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn)
|
rs180747811
|
0.00007
|
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)
|
rs767072839
|
0.00006
|
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys)
|
rs377461598
|
0.00005
|
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)
|
rs769864196
|
0.00005
|
NM_153717.3(EVC):c.580C>T (p.Arg194Trp)
|
rs757990300
|
0.00004
|
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser)
|
rs769781725
|
0.00003
|
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)
|
rs137852924
|
0.00003
|
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp)
|
rs368371226
|
0.00003
|
NM_147127.5(EVC2):c.229-2A>G
|
rs769799880
|
0.00003
|
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp)
|
rs776830520
|
0.00003
|
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.1018C>T (p.Arg340Ter)
|
rs121908425
|
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_153717.3(EVC):c.2731C>T (p.Arg911Ter)
|
rs767400887
|
0.00003
|
NM_153717.3(EVC):c.884C>G (p.Thr295Ser)
|
rs754532508
|
0.00003
|
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)
|
rs760382778
|
0.00002
|
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)
|
rs121908424
|
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.1855C>T (p.Gln619Ter)
|
rs137852925
|
0.00001
|
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer)
|
rs1431987950
|
0.00001
|
NM_147127.5(EVC2):c.2047-2A>G
|
rs1553833239
|
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.2343C>T (p.Gly781=)
|
rs762082443
|
0.00001
|
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter)
|
rs548681312
|
0.00001
|
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter)
|
rs770918273
|
0.00001
|
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
|
rs1043590599
|
0.00001
|
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
|
rs779407729
|
0.00001
|
NM_147127.5(EVC2):c.2954A>C (p.Tyr985Ser)
|
rs753942333
|
0.00001
|
NM_147127.5(EVC2):c.3660del (p.Ser1220fs)
|
rs753581033
|
0.00001
|
NM_147127.5(EVC2):c.706+2T>C
|
rs1360260333
|
0.00001
|
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter)
|
rs1236566474
|
0.00001
|
NM_147127.5(EVC2):c.893del (p.His298fs)
|
rs777505711
|
0.00001
|
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly)
|
rs764556070
|
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.2236C>T (p.Gln746Ter)
|
rs1446547358
|
0.00001
|
NM_153717.3(EVC):c.2304+2T>C
|
rs1553892090
|
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.873dup (p.Glu292Ter)
|
rs527255616
|
0.00001
|
NM_153717.3(EVC):c.928C>G (p.Leu310Val)
|
rs145300726
|
0.00001
|
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs)
|
rs1553855127
|
|
NM_147127.5(EVC2):c.1145+2T>G
|
|
|
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter)
|
rs2151750059
|
|
NM_147127.5(EVC2):c.1245del (p.Ser416fs)
|
|
|
NM_147127.5(EVC2):c.1255dup (p.His419fs)
|
|
|
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter)
|
rs1477102573
|
|
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)
|
rs186349183
|
|
NM_147127.5(EVC2):c.1522G>T (p.Glu508Ter)
|
|
|
NM_147127.5(EVC2):c.1595del (p.Phe532fs)
|
|
|
NM_147127.5(EVC2):c.1711-10del
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-20dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter)
|
rs779707723
|
|
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter)
|
rs1367694162
|
|
NM_147127.5(EVC2):c.199_208del (p.Ser67fs)
|
rs1420414097
|
|
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter)
|
rs2108843158
|
|
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
|
rs2475385307
|
|
NM_147127.5(EVC2):c.228+2T>G
|
|
|
NM_147127.5(EVC2):c.2320C>T (p.Gln774Ter)
|
|
|
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)
|
rs1577170055
|
|
NM_147127.5(EVC2):c.2409_2419del (p.Gln804fs)
|
|
|
NM_147127.5(EVC2):c.2501+2T>G
|
|
|
NM_147127.5(EVC2):c.2656G>A (p.Glu886Lys)
|
|
|
NM_147127.5(EVC2):c.2707-2A>G
|
|
|
NM_147127.5(EVC2):c.2710C>T (p.Gln904Ter)
|
|
|
NM_147127.5(EVC2):c.273dup (p.Lys92Ter)
|
rs2151739536
|
|
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp)
|
rs748869122
|
|
NM_147127.5(EVC2):c.2945dup (p.Ser983fs)
|
|
|
NM_147127.5(EVC2):c.2958del (p.Ala987fs)
|
|
|
NM_147127.5(EVC2):c.2974C>T (p.Gln992Ter)
|
|
|
NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter)
|
rs2475235455
|
|
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs)
|
rs1391194715
|
|
NM_147127.5(EVC2):c.30dup (p.Thr11fs)
|
rs1442303442
|
|
NM_147127.5(EVC2):c.3239del (p.Lys1080fs)
|
rs1291275281
|
|
NM_147127.5(EVC2):c.3286C>T (p.Gln1096Ter)
|
|
|
NM_147127.5(EVC2):c.3360+1G>A
|
rs1553815019
|
|
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs)
|
rs750396637
|
|
NM_147127.5(EVC2):c.35G>A (p.Trp12Ter)
|
|
|
NM_147127.5(EVC2):c.386del (p.Ala129fs)
|
|
|
NM_147127.5(EVC2):c.3G>C (p.Met1Ile)
|
|
|
NM_147127.5(EVC2):c.451-1_452del
|
rs1721107398
|
|
NM_147127.5(EVC2):c.451-2A>G
|
rs1553851870
|
|
NM_147127.5(EVC2):c.469G>T (p.Glu157Ter)
|
|
|
NM_147127.5(EVC2):c.558G>A (p.Trp186Ter)
|
|
|
NM_147127.5(EVC2):c.816+1G>T
|
rs1355905411
|
|
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+2T>C
|
|
|
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del)
|
rs1445771901
|
|
NM_153717.3(EVC):c.-31_15dup (p.Ala6fs)
|
|
|
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs)
|
rs767913372
|
|
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)
|
rs779915989
|
|
NM_153717.3(EVC):c.1084del (p.Glu362fs)
|
|
|
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])
|
rs1164121689
|
|
NM_153717.3(EVC):c.1316-7A>G
|
|
|
NM_153717.3(EVC):c.1652dup (p.Glu552fs)
|
rs1312383000
|
|
NM_153717.3(EVC):c.1662_1663del (p.Cys554_Asp555delinsTer)
|
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
NM_153717.3(EVC):c.1858_1878del (p.Leu620_Leu626del)
|
|
|
NM_153717.3(EVC):c.1887-5_1904del
|
rs779275317
|
|
NM_153717.3(EVC):c.1981C>T (p.Gln661Ter)
|
|
|
NM_153717.3(EVC):c.2143_2144del (p.Gln715fs)
|
|
|
NM_153717.3(EVC):c.220C>T (p.Gln74Ter)
|
|
|
NM_153717.3(EVC):c.2449+1G>A
|
rs1553893423
|
|
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter)
|
rs561852174
|
|
NM_153717.3(EVC):c.2695G>T (p.Glu899Ter)
|
|
|
NM_153717.3(EVC):c.2889dup (p.Leu964fs)
|
|
|
NM_153717.3(EVC):c.384+1G>T
|
|
|
NM_153717.3(EVC):c.585_586insT (p.Asn196Ter)
|
|
|
NM_153717.3(EVC):c.618-1G>A
|
|
|
NM_153717.3(EVC):c.802-12_802-11del
|
rs372546602
|
|
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)
|
rs755381180
|
|
NM_153717.3(EVC):c.90_91insT (p.Ala31fs)
|
|
|
NM_153717.3(EVC):c.910dup (p.Arg304fs)
|
rs1428798262
|
|