NM_153717.2(EVC):c.2688+4_2688+5ins19

rs1553895769 
NM_153717.2(EVC):c.2782+1delG

rs1169539647 
NM_153717.2(EVC):c.303_308del6 (p.Cys102_Glu103del)

rs1553865272 
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)

rs121908425 
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.1084_1086del (p.Glu362del)

rs1553873980 
NM_153717.3(EVC):c.114_119CGGCCT[4] (p.39_40GL[4])

rs1164121689 
NM_153717.3(EVC):c.1252_1254del (p.Lys418del)

rs1553875708 
NM_153717.3(EVC):c.1269_1271GCA[2] (p.Gln425del)

rs1553875724 
NM_153717.3(EVC):c.127_132dup (p.39_40GL[4])

rs1553857987 
NM_153717.3(EVC):c.1286_1288del (p.Phe429del)

rs1553875733 
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)

rs35953626 
NM_153717.3(EVC):c.134G>A (p.Trp45Ter)

rs1553857995 
NM_153717.3(EVC):c.1373del (p.Gly458fs)

rs760607210 
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs)

rs1553876034 
NM_153717.3(EVC):c.1464+20T>C

rs886038740 
NM_153717.3(EVC):c.14653_1472del

rs1300178432 
NM_153717.3(EVC):c.1473dup (p.Glu492Ter)

rs1553876813 
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)

rs149898884 
NM_153717.3(EVC):c.1539del (p.Glu514fs)

rs759106605 
NM_153717.3(EVC):c.1554dup (p.Leu519fs)

rs1553876870 
NM_153717.3(EVC):c.15642A>G

rs1553886849 
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.1694del (p.Ala565fs)

rs753014919 
NM_153717.3(EVC):c.1759G>A

rs753317536 
NM_153717.3(EVC):c.17771G>A

rs1262933856 
NM_153717.3(EVC):c.17772A>G

rs909612975 
NM_153717.3(EVC):c.1786_1788GAG[1] (p.Glu597del)

rs764533114 
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)

rs1553889992 
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)

rs1373632260 
NM_153717.3(EVC):c.1886+5G>T

rs794726665 
NM_153717.3(EVC):c.18875_1904del

rs779275317 
NM_153717.3(EVC):c.1922_1927del (p.Leu641_Leu642del)

rs1553891170 
NM_153717.3(EVC):c.1940_1951del (p.Arg647_Ala650del)

rs1553891205 
NM_153717.3(EVC):c.2097+1G>T

rs1553891368 
NM_153717.3(EVC):c.20981G>A

rs773019082 
NM_153717.3(EVC):c.2114_2116AGG[1] (p.Glu706del)

rs1553891884 
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.2440_2445dup (p.Thr814_Leu815dup)

rs1553893407 
NM_153717.3(EVC):c.2449+1G>A

rs1553893423 
NM_153717.3(EVC):c.2457del (p.Met820fs)

rs794726666 
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer)

rs1553857828 
NM_153717.3(EVC):c.2561+12_2561+23del

rs1199616057 
NM_153717.3(EVC):c.2561+12_2561+23dup

rs1199616057 
NM_153717.3(EVC):c.2561+1G>A

rs1553894457 
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)

rs121908424 
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.2821C>T (p.Gln941Ter)

rs896581899 
NM_153717.3(EVC):c.2827_2828AG[1] (p.Asp945fs)

rs1460851298 
NM_153717.3(EVC):c.2842dup (p.Val948fs)

rs1553896459 
NM_153717.3(EVC):c.2893dup (p.Ser965fs)

rs1553896497 
NM_153717.3(EVC):c.2894+3A>G

rs1424976594 
NM_153717.3(EVC):c.2916_2935del (p.Glu973fs)

rs1553896708 
NM_153717.3(EVC):c.2920del (p.Ser974fs)

rs1370417156 
NM_153717.3(EVC):c.2T>A (p.Met1Lys)

rs1553857801 
NM_153717.3(EVC):c.3011G>A

rs1363547577 
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)

rs748523193 
NM_153717.3(EVC):c.364C>T (p.Pro122Ser)

rs1407007311 
NM_153717.3(EVC):c.384+5G>C

rs1553865348 
NM_153717.3(EVC):c.384G>T (p.Arg128=)

rs1553865346 
NM_153717.3(EVC):c.393del (p.Asp132fs)

rs1437174284 
NM_153717.3(EVC):c.40_42CTG[2] (p.Leu16del)

rs1553857864 
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.7031G>A

rs1485152854 
NM_153717.3(EVC):c.720del (p.Phe240fs)

rs1553871764 
NM_153717.3(EVC):c.72_86dup (p.Leu27_Ala31dup)

rs1553857901 
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro)

rs529818833 
NM_153717.3(EVC):c.735del (p.Asp246fs)

rs587776619 
NM_153717.3(EVC):c.740_742TTC[1] (p.Leu248del)

rs1278946084 
NM_153717.3(EVC):c.751_753AAG[1] (p.Lys252del)

rs1232712590 
NM_153717.3(EVC):c.752dup (p.Lys252fs)

rs1553871792 
NM_153717.3(EVC):c.79_93del (p.Leu27_Ala31del)

rs1553857904 
NM_153717.3(EVC):c.801+2T>G

rs1553871866 
NM_153717.3(EVC):c.8021G>C

rs150814290 
NM_153717.3(EVC):c.835_837del (p.Lys279del)

rs761463883 
NM_153717.3(EVC):c.873dup (p.Glu292Ter)

rs527255616 
NM_153717.3(EVC):c.884C>G (p.Thr295Ser)

rs754532508 
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)

rs121908426 
NM_153717.3(EVC):c.928C>G (p.Leu310Val)

rs145300726 
NM_153717.3(EVC):c.939+1G>C

rs1553873138 
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)

rs199916502 
NM_153717.3(EVC):c.99_113dup (p.Leu34_Leu38dup)

rs1229967881 