NM_147127.5(EVC2):c.105_126dup (p.Gly43fs)
|
rs1553855127 |
NM_147127.5(EVC2):c.1170_1171delinsC (p.Ala391fs)
|
rs1553840713 |
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter)
|
rs1477102573 |
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs)
|
rs772840335 |
NM_147127.5(EVC2):c.142_151del (p.Asp49fs)
|
rs1221185345 |
NM_147127.5(EVC2):c.1471-1G>C
|
rs1553837446 |
NM_147127.5(EVC2):c.1655_1658del (p.Gly552fs)
|
rs1159758018 |
NM_147127.5(EVC2):c.1711-1G>A
|
rs1553836169 |
NM_147127.5(EVC2):c.1887-1G>A
|
rs1490912913 |
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer)
|
rs1431987950 |
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs)
|
rs992326794 |
NM_147127.5(EVC2):c.199_208del (p.Ser67fs)
|
rs1420414097 |
NM_147127.5(EVC2):c.202_206GGGGC[4] (p.Pro71fs)
|
rs1553855074 |
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.2263C>T (p.Gln755Ter)
|
rs751356206 |
NM_147127.5(EVC2):c.229-1G>T
|
rs1214848359 |
NM_147127.5(EVC2):c.229-2A>G
|
rs769799880 |
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter)
|
rs770918273 |
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)
|
rs760382778 |
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter)
|
rs965707319 |
NM_147127.5(EVC2):c.2707-1G>T
|
rs749251178 |
NM_147127.5(EVC2):c.2830-1G>A
|
rs1553818428 |
NM_147127.5(EVC2):c.3057+1G>A
|
rs1307502841 |
NM_147127.5(EVC2):c.3058-2A>G
|
rs760066386 |
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)
|
rs886037764 |
NM_147127.5(EVC2):c.3360+1G>A
|
rs1553815019 |
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs)
|
rs778793911 |
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter)
|
rs1305301849 |
NM_147127.5(EVC2):c.3659+2T>C
|
rs200300612 |
NM_147127.5(EVC2):c.3660-2A>G
|
rs1553811863 |
NM_147127.5(EVC2):c.450+1G>A
|
rs1447633595 |
NM_147127.5(EVC2):c.450+1del
|
rs1553852469 |
NM_147127.5(EVC2):c.450+2T>C
|
rs781096099 |
NM_147127.5(EVC2):c.451-2A>G
|
rs1553851870 |
NM_147127.5(EVC2):c.50dup (p.Leu18fs)
|
rs1553855151 |
NM_147127.5(EVC2):c.534dup (p.Glu179Ter)
|
rs1553851462 |
NM_147127.5(EVC2):c.62dup (p.Ala22fs)
|
rs1430962566 |
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter)
|
rs1553850677 |
NM_147127.5(EVC2):c.816+2T>C
|
rs1294715119 |
NM_147127.5(EVC2):c.817-2A>G
|
rs1553849894 |
NM_147127.5(EVC2):c.871-2_894del
|
rs755789146 |
NM_147127.5(EVC2):c.893del (p.His298fs)
|
rs777505711 |
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter)
|
rs763363403 |
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)
|
rs779915989 |
NM_153717.3(EVC):c.134G>A (p.Trp45Ter)
|
rs1553857995 |
NM_153717.3(EVC):c.1373del (p.Gly458fs)
|
rs760607210 |
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.1564-2A>G
|
rs1553886849 |
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417 |
NM_153717.3(EVC):c.175-9G>A
|
rs753317536 |
NM_153717.3(EVC):c.1777-1G>A
|
rs1262933856 |
NM_153717.3(EVC):c.1777-2A>G
|
rs909612975 |
NM_153717.3(EVC):c.1887-5_1904del
|
rs779275317 |
NM_153717.3(EVC):c.2097+1G>T
|
rs1553891368 |
NM_153717.3(EVC):c.2098-1G>A
|
rs773019082 |
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.2449+1G>A
|
rs1553893423 |
NM_153717.3(EVC):c.2450-1G>A
|
|
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer)
|
rs1553857828 |
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.2782+1G>T
|
rs1007534611 |
NM_153717.3(EVC):c.2782+1del
|
rs1169539647 |
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)
|
rs896581899 |
NM_153717.3(EVC):c.2894+3A>G
|
rs1424976594 |
NM_153717.3(EVC):c.301-1G>A
|
rs1363547577 |
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)
|
rs748523193 |
NM_153717.3(EVC):c.384G>T (p.Arg128=)
|
rs1553865346 |
NM_153717.3(EVC):c.393del (p.Asp132fs)
|
rs1437174284 |
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059 |
NM_153717.3(EVC):c.698dup (p.His233fs)
|
rs1553867117 |
NM_153717.3(EVC):c.702+1G>A
|
rs1553867138 |
NM_153717.3(EVC):c.703-1G>A
|
rs1485152854 |
NM_153717.3(EVC):c.720del (p.Phe240fs)
|
rs1553871764 |
NM_153717.3(EVC):c.752dup (p.Lys252fs)
|
rs1553871792 |
NM_153717.3(EVC):c.801+2T>G
|
rs1553871866 |
NM_153717.3(EVC):c.802-1G>C
|
rs150814290 |
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)
|
rs121908426 |
NM_153717.3(EVC):c.939+1G>C
|
rs1553873138 |