Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53234897_53235077del | CA2499226779 | IQSEC2 | c.3770_3950del (p.Phe1257SerfsTer?) c.1453+708_1453+888del c.962+708_962+888del c.316+1247_316+1427del (n.316+1247_316+1427del) c.514+1247_514+1427del (n.514+1247_514+1427del) c.*96_*276del (n.*96_*276del) c.3611_3791del (p.Phe1204SerfsTer?) c.3581_3761del (p.Phe1194SerfsTer?) c.3707_3887del (p.Phe1236SerfsTer?) c.2996_3176del (p.Phe999SerfsTer?) c.3597+708_3597+888del (n.3597+708_3597+888del) c.3547+1247_3547+1427del (n.3547+1247_3547+1427del) c.2933_3113del (p.Phe978SerfsTer?) c.2900_3080del (p.Phe967SerfsTer?) c.3113_3293del (p.Phe1038SerfsTer?) | ClinVar dbSNP |
X | g.53234961_53235025del | CA2695234289 | IQSEC2 | c.3828_3892del (p.Thr1278SerfsTer4) c.1453+766_1453+830del c.962+766_962+830del c.316+1305_316+1369del (n.316+1305_316+1369del) c.514+1305_514+1369del (n.514+1305_514+1369del) c.*154_*218del (n.*154_*218del) c.3669_3733del (p.Thr1225SerfsTer4) c.3639_3703del (p.Thr1215SerfsTer4) c.3765_3829del (p.Thr1257SerfsTer4) c.3054_3118del (p.Thr1020SerfsTer4) c.3597+766_3597+830del (n.3597+766_3597+830del) c.3547+1305_3547+1369del (n.3547+1305_3547+1369del) c.2991_3055del (p.Thr999SerfsTer4) c.2958_3022del (p.Thr988SerfsTer4) c.3171_3235del (p.Thr1059SerfsTer4) | |
X | g.53235019G>A | CA413141606 | IQSEC2 | c.3826C>T (p.Pro1276Ser) c.1453+764C>T c.962+764C>T c.316+1303C>T (n.316+1303C>T) c.514+1303C>T (n.514+1303C>T) c.*152C>T (n.*152C>T) c.3667C>T (p.Pro1223Ser) c.3637C>T (p.Pro1213Ser) c.3763C>T (p.Pro1255Ser) c.3052C>T (p.Pro1018Ser) c.3597+764C>T (n.3597+764C>T) c.3547+1303C>T (n.3547+1303C>T) c.2989C>T (p.Pro997Ser) c.2956C>T (p.Pro986Ser) c.3169C>T (p.Pro1057Ser) | |
X | g.53235019G>C | CA413141609 | IQSEC2 | c.3826C>G (p.Pro1276Ala) c.1453+764C>G c.962+764C>G c.316+1303C>G (n.316+1303C>G) c.514+1303C>G (n.514+1303C>G) c.*152C>G (n.*152C>G) c.3667C>G (p.Pro1223Ala) c.3637C>G (p.Pro1213Ala) c.3763C>G (p.Pro1255Ala) c.3052C>G (p.Pro1018Ala) c.3597+764C>G (n.3597+764C>G) c.3547+1303C>G (n.3547+1303C>G) c.2989C>G (p.Pro997Ala) c.2956C>G (p.Pro986Ala) c.3169C>G (p.Pro1057Ala) | |
X | g.53235019G>T | CA413141610 | IQSEC2 | c.3826C>A (p.Pro1276Thr) c.1453+764C>A c.962+764C>A c.316+1303C>A (n.316+1303C>A) c.514+1303C>A (n.514+1303C>A) c.*152C>A (n.*152C>A) c.3667C>A (p.Pro1223Thr) c.3637C>A (p.Pro1213Thr) c.3763C>A (p.Pro1255Thr) c.3052C>A (p.Pro1018Thr) c.3597+764C>A (n.3597+764C>A) c.3547+1303C>A (n.3547+1303C>A) c.2989C>A (p.Pro997Thr) c.2956C>A (p.Pro986Thr) c.3169C>A (p.Pro1057Thr) | |
X | g.53235020T>A | CA516673803 | IQSEC2 | c.3825A>T (p.Pro1275=) c.1453+763A>T c.962+763A>T c.316+1302A>T (n.316+1302A>T) c.514+1302A>T (n.514+1302A>T) c.*151A>T (n.*151A>T) c.3666A>T (p.Pro1222=) c.3636A>T (p.Pro1212=) c.3762A>T (p.Pro1254=) c.3051A>T (p.Pro1017=) c.3597+763A>T (n.3597+763A>T) c.3547+1302A>T (n.3547+1302A>T) c.2988A>T (p.Pro996=) c.2955A>T (p.Pro985=) c.3168A>T (p.Pro1056=) | |
X | g.53235020T>C | CA516673799 | IQSEC2 | c.3825A>G (p.Pro1275=) c.1453+763A>G c.962+763A>G c.316+1302A>G (n.316+1302A>G) c.514+1302A>G (n.514+1302A>G) c.*151A>G (n.*151A>G) c.3666A>G (p.Pro1222=) c.3636A>G (p.Pro1212=) c.3762A>G (p.Pro1254=) c.3051A>G (p.Pro1017=) c.3597+763A>G (n.3597+763A>G) c.3547+1302A>G (n.3547+1302A>G) c.2988A>G (p.Pro996=) c.2955A>G (p.Pro985=) c.3168A>G (p.Pro1056=) | ClinVar dbSNP |
X | g.53235020T>G | CA516673801 | IQSEC2 | c.3825A>C (p.Pro1275=) c.1453+763A>C c.962+763A>C c.316+1302A>C (n.316+1302A>C) c.514+1302A>C (n.514+1302A>C) c.*151A>C (n.*151A>C) c.3666A>C (p.Pro1222=) c.3636A>C (p.Pro1212=) c.3762A>C (p.Pro1254=) c.3051A>C (p.Pro1017=) c.3597+763A>C (n.3597+763A>C) c.3547+1302A>C (n.3547+1302A>C) c.2988A>C (p.Pro996=) c.2955A>C (p.Pro985=) c.3168A>C (p.Pro1056=) | |
X | g.53235020T= | CA2429770673 | IQSEC2 | c.3825A= (p.Pro1275=) c.1453+763A= c.962+763A= c.316+1302A= (n.316+1302A=) c.514+1302A= (n.514+1302A=) c.*151A= (n.*151A=) c.3666A= (p.Pro1222=) c.3636A= (p.Pro1212=) c.3762A= (p.Pro1254=) c.3051A= (p.Pro1017=) c.3597+763A= (n.3597+763A=) c.3547+1302A= (n.3547+1302A=) c.2988A= (p.Pro996=) c.2955A= (p.Pro985=) c.3168A= (p.Pro1056=) | |
X | g.53235021G>A | CA413141616 | IQSEC2 | c.3824C>T (p.Pro1275Leu) c.1453+762C>T c.962+762C>T c.316+1301C>T (n.316+1301C>T) c.514+1301C>T (n.514+1301C>T) c.*150C>T (n.*150C>T) c.3665C>T (p.Pro1222Leu) c.3635C>T (p.Pro1212Leu) c.3761C>T (p.Pro1254Leu) c.3050C>T (p.Pro1017Leu) c.3597+762C>T (n.3597+762C>T) c.3547+1301C>T (n.3547+1301C>T) c.2987C>T (p.Pro996Leu) c.2954C>T (p.Pro985Leu) c.3167C>T (p.Pro1056Leu) | ClinVar dbSNP |
X | g.53235021G>C | CA413141619 | IQSEC2 | c.3824C>G (p.Pro1275Arg) c.1453+762C>G c.962+762C>G c.316+1301C>G (n.316+1301C>G) c.514+1301C>G (n.514+1301C>G) c.*150C>G (n.*150C>G) c.3665C>G (p.Pro1222Arg) c.3635C>G (p.Pro1212Arg) c.3761C>G (p.Pro1254Arg) c.3050C>G (p.Pro1017Arg) c.3597+762C>G (n.3597+762C>G) c.3547+1301C>G (n.3547+1301C>G) c.2987C>G (p.Pro996Arg) c.2954C>G (p.Pro985Arg) c.3167C>G (p.Pro1056Arg) | |
X | g.53235021G= | CA2429770674 | IQSEC2 | c.3824C= (p.Pro1275=) c.1453+762C= c.962+762C= c.316+1301C= (n.316+1301C=) c.514+1301C= (n.514+1301C=) c.*150C= (n.*150C=) c.3665C= (p.Pro1222=) c.3635C= (p.Pro1212=) c.3761C= (p.Pro1254=) c.3050C= (p.Pro1017=) c.3597+762C= (n.3597+762C=) c.3547+1301C= (n.3547+1301C=) c.2987C= (p.Pro996=) c.2954C= (p.Pro985=) c.3167C= (p.Pro1056=) | |
X | g.53235021G>T | CA413141621 | IQSEC2 | c.3824C>A (p.Pro1275Gln) c.1453+762C>A c.962+762C>A c.316+1301C>A (n.316+1301C>A) c.514+1301C>A (n.514+1301C>A) c.*150C>A (n.*150C>A) c.3665C>A (p.Pro1222Gln) c.3635C>A (p.Pro1212Gln) c.3761C>A (p.Pro1254Gln) c.3050C>A (p.Pro1017Gln) c.3597+762C>A (n.3597+762C>A) c.3547+1301C>A (n.3547+1301C>A) c.2987C>A (p.Pro996Gln) c.2954C>A (p.Pro985Gln) c.3167C>A (p.Pro1056Gln) | |
X | g.53235022G>A | CA413141626 | IQSEC2 | c.3823C>T (p.Pro1275Ser) c.1453+761C>T c.962+761C>T c.316+1300C>T (n.316+1300C>T) c.514+1300C>T (n.514+1300C>T) c.*149C>T (n.*149C>T) c.3664C>T (p.Pro1222Ser) c.3634C>T (p.Pro1212Ser) c.3760C>T (p.Pro1254Ser) c.3049C>T (p.Pro1017Ser) c.3597+761C>T (n.3597+761C>T) c.3547+1300C>T (n.3547+1300C>T) c.2986C>T (p.Pro996Ser) c.2953C>T (p.Pro985Ser) c.3166C>T (p.Pro1056Ser) | |
X | g.53235022G>C | CA413141629 | IQSEC2 | c.3823C>G (p.Pro1275Ala) c.1453+761C>G c.962+761C>G c.316+1300C>G (n.316+1300C>G) c.514+1300C>G (n.514+1300C>G) c.*149C>G (n.*149C>G) c.3664C>G (p.Pro1222Ala) c.3634C>G (p.Pro1212Ala) c.3760C>G (p.Pro1254Ala) c.3049C>G (p.Pro1017Ala) c.3597+761C>G (n.3597+761C>G) c.3547+1300C>G (n.3547+1300C>G) c.2986C>G (p.Pro996Ala) c.2953C>G (p.Pro985Ala) c.3166C>G (p.Pro1056Ala) | |
X | g.53235022G>T | CA413141632 | IQSEC2 | c.3823C>A (p.Pro1275Thr) c.1453+761C>A c.962+761C>A c.316+1300C>A (n.316+1300C>A) c.514+1300C>A (n.514+1300C>A) c.*149C>A (n.*149C>A) c.3664C>A (p.Pro1222Thr) c.3634C>A (p.Pro1212Thr) c.3760C>A (p.Pro1254Thr) c.3049C>A (p.Pro1017Thr) c.3597+761C>A (n.3597+761C>A) c.3547+1300C>A (n.3547+1300C>A) c.2986C>A (p.Pro996Thr) c.2953C>A (p.Pro985Thr) c.3166C>A (p.Pro1056Thr) | |
X | g.53235023T>A | CA516673807 | IQSEC2 | c.3822A>T (p.Pro1274=) c.1453+760A>T c.962+760A>T c.316+1299A>T (n.316+1299A>T) c.514+1299A>T (n.514+1299A>T) c.*148A>T (n.*148A>T) c.3663A>T (p.Pro1221=) c.3633A>T (p.Pro1211=) c.3759A>T (p.Pro1253=) c.3048A>T (p.Pro1016=) c.3597+760A>T (n.3597+760A>T) c.3547+1299A>T (n.3547+1299A>T) c.2985A>T (p.Pro995=) c.2952A>T (p.Pro984=) c.3165A>T (p.Pro1055=) | |
X | g.53235023T>C | CA206654 | IQSEC2 | c.3822A>G (p.Pro1274=) c.1453+760A>G c.962+760A>G c.316+1299A>G (n.316+1299A>G) c.514+1299A>G (n.514+1299A>G) c.*148A>G (n.*148A>G) c.3663A>G (p.Pro1221=) c.3633A>G (p.Pro1211=) c.3759A>G (p.Pro1253=) c.3048A>G (p.Pro1016=) c.3597+760A>G (n.3597+760A>G) c.3547+1299A>G (n.3547+1299A>G) c.2985A>G (p.Pro995=) c.2952A>G (p.Pro984=) c.3165A>G (p.Pro1055=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235023T>G | CA516673810 | IQSEC2 | c.3822A>C (p.Pro1274=) c.1453+760A>C c.962+760A>C c.316+1299A>C (n.316+1299A>C) c.514+1299A>C (n.514+1299A>C) c.*148A>C (n.*148A>C) c.3663A>C (p.Pro1221=) c.3633A>C (p.Pro1211=) c.3759A>C (p.Pro1253=) c.3048A>C (p.Pro1016=) c.3597+760A>C (n.3597+760A>C) c.3547+1299A>C (n.3547+1299A>C) c.2985A>C (p.Pro995=) c.2952A>C (p.Pro984=) c.3165A>C (p.Pro1055=) | |
X | g.53235023T= | CA2429770675 | IQSEC2 | c.3822A= (p.Pro1274=) c.1453+760A= c.962+760A= c.316+1299A= (n.316+1299A=) c.514+1299A= (n.514+1299A=) c.*148A= (n.*148A=) c.3663A= (p.Pro1221=) c.3633A= (p.Pro1211=) c.3759A= (p.Pro1253=) c.3048A= (p.Pro1016=) c.3597+760A= (n.3597+760A=) c.3547+1299A= (n.3547+1299A=) c.2985A= (p.Pro995=) c.2952A= (p.Pro984=) c.3165A= (p.Pro1055=) | |
X | g.53235024G>A | CA413141654 | IQSEC2 | c.3821C>T (p.Pro1274Leu) c.1453+759C>T c.962+759C>T c.316+1298C>T (n.316+1298C>T) c.514+1298C>T (n.514+1298C>T) c.*147C>T (n.*147C>T) c.3662C>T (p.Pro1221Leu) c.3632C>T (p.Pro1211Leu) c.3758C>T (p.Pro1253Leu) c.3047C>T (p.Pro1016Leu) c.3597+759C>T (n.3597+759C>T) c.3547+1298C>T (n.3547+1298C>T) c.2984C>T (p.Pro995Leu) c.2951C>T (p.Pro984Leu) c.3164C>T (p.Pro1055Leu) | |
X | g.53235024G>C | CA413141657 | IQSEC2 | c.3821C>G (p.Pro1274Arg) c.1453+759C>G c.962+759C>G c.316+1298C>G (n.316+1298C>G) c.514+1298C>G (n.514+1298C>G) c.*147C>G (n.*147C>G) c.3662C>G (p.Pro1221Arg) c.3632C>G (p.Pro1211Arg) c.3758C>G (p.Pro1253Arg) c.3047C>G (p.Pro1016Arg) c.3597+759C>G (n.3597+759C>G) c.3547+1298C>G (n.3547+1298C>G) c.2984C>G (p.Pro995Arg) c.2951C>G (p.Pro984Arg) c.3164C>G (p.Pro1055Arg) | |
X | g.53235024G>T | CA413141660 | IQSEC2 | c.3821C>A (p.Pro1274Gln) c.1453+759C>A c.962+759C>A c.316+1298C>A (n.316+1298C>A) c.514+1298C>A (n.514+1298C>A) c.*147C>A (n.*147C>A) c.3662C>A (p.Pro1221Gln) c.3632C>A (p.Pro1211Gln) c.3758C>A (p.Pro1253Gln) c.3047C>A (p.Pro1016Gln) c.3597+759C>A (n.3597+759C>A) c.3547+1298C>A (n.3547+1298C>A) c.2984C>A (p.Pro995Gln) c.2951C>A (p.Pro984Gln) c.3164C>A (p.Pro1055Gln) | ClinVar gnomAD v4 |
X | g.53235025G>A | CA413141669 | IQSEC2 | c.3820C>T (p.Pro1274Ser) c.1453+758C>T c.962+758C>T c.316+1297C>T (n.316+1297C>T) c.514+1297C>T (n.514+1297C>T) c.*146C>T (n.*146C>T) c.3661C>T (p.Pro1221Ser) c.3631C>T (p.Pro1211Ser) c.3757C>T (p.Pro1253Ser) c.3046C>T (p.Pro1016Ser) c.3597+758C>T (n.3597+758C>T) c.3547+1297C>T (n.3547+1297C>T) c.2983C>T (p.Pro995Ser) c.2950C>T (p.Pro984Ser) c.3163C>T (p.Pro1055Ser) | gnomAD v4 |
X | g.53235025G>C | CA413141664 | IQSEC2 | c.3820C>G (p.Pro1274Ala) c.1453+758C>G c.962+758C>G c.316+1297C>G (n.316+1297C>G) c.514+1297C>G (n.514+1297C>G) c.*146C>G (n.*146C>G) c.3661C>G (p.Pro1221Ala) c.3631C>G (p.Pro1211Ala) c.3757C>G (p.Pro1253Ala) c.3046C>G (p.Pro1016Ala) c.3597+758C>G (n.3597+758C>G) c.3547+1297C>G (n.3547+1297C>G) c.2983C>G (p.Pro995Ala) c.2950C>G (p.Pro984Ala) c.3163C>G (p.Pro1055Ala) | |
X | g.53235025G>T | CA413141667 | IQSEC2 | c.3820C>A (p.Pro1274Thr) c.1453+758C>A c.962+758C>A c.316+1297C>A (n.316+1297C>A) c.514+1297C>A (n.514+1297C>A) c.*146C>A (n.*146C>A) c.3661C>A (p.Pro1221Thr) c.3631C>A (p.Pro1211Thr) c.3757C>A (p.Pro1253Thr) c.3046C>A (p.Pro1016Thr) c.3597+758C>A (n.3597+758C>A) c.3547+1297C>A (n.3547+1297C>A) c.2983C>A (p.Pro995Thr) c.2950C>A (p.Pro984Thr) c.3163C>A (p.Pro1055Thr) | |
X | g.53235026C>A | CA413141674 | IQSEC2 | c.3819G>T (p.Met1273Ile) c.1453+757G>T c.962+757G>T c.316+1296G>T (n.316+1296G>T) c.514+1296G>T (n.514+1296G>T) c.*145G>T (n.*145G>T) c.3660G>T (p.Met1220Ile) c.3630G>T (p.Met1210Ile) c.3756G>T (p.Met1252Ile) c.3045G>T (p.Met1015Ile) c.3597+757G>T (n.3597+757G>T) c.3547+1296G>T (n.3547+1296G>T) c.2982G>T (p.Met994Ile) c.2949G>T (p.Met983Ile) c.3162G>T (p.Met1054Ile) | |
X | g.53235026C>G | CA413141677 | IQSEC2 | c.3819G>C (p.Met1273Ile) c.1453+757G>C c.962+757G>C c.316+1296G>C (n.316+1296G>C) c.514+1296G>C (n.514+1296G>C) c.*145G>C (n.*145G>C) c.3660G>C (p.Met1220Ile) c.3630G>C (p.Met1210Ile) c.3756G>C (p.Met1252Ile) c.3045G>C (p.Met1015Ile) c.3597+757G>C (n.3597+757G>C) c.3547+1296G>C (n.3547+1296G>C) c.2982G>C (p.Met994Ile) c.2949G>C (p.Met983Ile) c.3162G>C (p.Met1054Ile) | |
X | g.53235026C>T | CA413141679 | IQSEC2 | c.3819G>A (p.Met1273Ile) c.1453+757G>A c.962+757G>A c.316+1296G>A (n.316+1296G>A) c.514+1296G>A (n.514+1296G>A) c.*145G>A (n.*145G>A) c.3660G>A (p.Met1220Ile) c.3630G>A (p.Met1210Ile) c.3756G>A (p.Met1252Ile) c.3045G>A (p.Met1015Ile) c.3597+757G>A (n.3597+757G>A) c.3547+1296G>A (n.3547+1296G>A) c.2982G>A (p.Met994Ile) c.2949G>A (p.Met983Ile) c.3162G>A (p.Met1054Ile) | |
X | g.53235027A>C | CA413141684 | IQSEC2 | c.3818T>G (p.Met1273Arg) c.1453+756T>G c.962+756T>G c.316+1295T>G (n.316+1295T>G) c.514+1295T>G (n.514+1295T>G) c.*144T>G (n.*144T>G) c.3659T>G (p.Met1220Arg) c.3629T>G (p.Met1210Arg) c.3755T>G (p.Met1252Arg) c.3044T>G (p.Met1015Arg) c.3597+756T>G (n.3597+756T>G) c.3547+1295T>G (n.3547+1295T>G) c.2981T>G (p.Met994Arg) c.2948T>G (p.Met983Arg) c.3161T>G (p.Met1054Arg) | |
X | g.53235027A>G | CA413141688 | IQSEC2 | c.3818T>C (p.Met1273Thr) c.1453+756T>C c.962+756T>C c.316+1295T>C (n.316+1295T>C) c.514+1295T>C (n.514+1295T>C) c.*144T>C (n.*144T>C) c.3659T>C (p.Met1220Thr) c.3629T>C (p.Met1210Thr) c.3755T>C (p.Met1252Thr) c.3044T>C (p.Met1015Thr) c.3597+756T>C (n.3597+756T>C) c.3547+1295T>C (n.3547+1295T>C) c.2981T>C (p.Met994Thr) c.2948T>C (p.Met983Thr) c.3161T>C (p.Met1054Thr) | gnomAD v4 |
X | g.53235027A>T | CA413141689 | IQSEC2 | c.3818T>A (p.Met1273Lys) c.1453+756T>A c.962+756T>A c.316+1295T>A (n.316+1295T>A) c.514+1295T>A (n.514+1295T>A) c.*144T>A (n.*144T>A) c.3659T>A (p.Met1220Lys) c.3629T>A (p.Met1210Lys) c.3755T>A (p.Met1252Lys) c.3044T>A (p.Met1015Lys) c.3597+756T>A (n.3597+756T>A) c.3547+1295T>A (n.3547+1295T>A) c.2981T>A (p.Met994Lys) c.2948T>A (p.Met983Lys) c.3161T>A (p.Met1054Lys) | |
X | g.53235028T>A | CA413141694 | IQSEC2 | c.3817A>T (p.Met1273Leu) c.1453+755A>T c.962+755A>T c.316+1294A>T (n.316+1294A>T) c.514+1294A>T (n.514+1294A>T) c.*143A>T (n.*143A>T) c.3658A>T (p.Met1220Leu) c.3628A>T (p.Met1210Leu) c.3754A>T (p.Met1252Leu) c.3043A>T (p.Met1015Leu) c.3597+755A>T (n.3597+755A>T) c.3547+1294A>T (n.3547+1294A>T) c.2980A>T (p.Met994Leu) c.2947A>T (p.Met983Leu) c.3160A>T (p.Met1054Leu) | |
X | g.53235028T>C | CA413141697 | IQSEC2 | c.3817A>G (p.Met1273Val) c.1453+755A>G c.962+755A>G c.316+1294A>G (n.316+1294A>G) c.514+1294A>G (n.514+1294A>G) c.*143A>G (n.*143A>G) c.3658A>G (p.Met1220Val) c.3628A>G (p.Met1210Val) c.3754A>G (p.Met1252Val) c.3043A>G (p.Met1015Val) c.3597+755A>G (n.3597+755A>G) c.3547+1294A>G (n.3547+1294A>G) c.2980A>G (p.Met994Val) c.2947A>G (p.Met983Val) c.3160A>G (p.Met1054Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235028T>G | CA413141700 | IQSEC2 | c.3817A>C (p.Met1273Leu) c.1453+755A>C c.962+755A>C c.316+1294A>C (n.316+1294A>C) c.514+1294A>C (n.514+1294A>C) c.*143A>C (n.*143A>C) c.3658A>C (p.Met1220Leu) c.3628A>C (p.Met1210Leu) c.3754A>C (p.Met1252Leu) c.3043A>C (p.Met1015Leu) c.3597+755A>C (n.3597+755A>C) c.3547+1294A>C (n.3547+1294A>C) c.2980A>C (p.Met994Leu) c.2947A>C (p.Met983Leu) c.3160A>C (p.Met1054Leu) | |
X | g.53235028T= | CA2429770676 | IQSEC2 | c.3817A= (p.Met1273=) c.1453+755A= c.962+755A= c.316+1294A= (n.316+1294A=) c.514+1294A= (n.514+1294A=) c.*143A= (n.*143A=) c.3658A= (p.Met1220=) c.3628A= (p.Met1210=) c.3754A= (p.Met1252=) c.3043A= (p.Met1015=) c.3597+755A= (n.3597+755A=) c.3547+1294A= (n.3547+1294A=) c.2980A= (p.Met994=) c.2947A= (p.Met983=) c.3160A= (p.Met1054=) | |
X | g.53235029C>A | CA413141704 | IQSEC2 | c.3816G>T (p.Gln1272His) c.1453+754G>T c.962+754G>T c.316+1293G>T (n.316+1293G>T) c.514+1293G>T (n.514+1293G>T) c.*142G>T (n.*142G>T) c.3657G>T (p.Gln1219His) c.3627G>T (p.Gln1209His) c.3753G>T (p.Gln1251His) c.3042G>T (p.Gln1014His) c.3597+754G>T (n.3597+754G>T) c.3547+1293G>T (n.3547+1293G>T) c.2979G>T (p.Gln993His) c.2946G>T (p.Gln982His) c.3159G>T (p.Gln1053His) | |
X | g.53235029C>G | CA413141706 | IQSEC2 | c.3816G>C (p.Gln1272His) c.1453+754G>C c.962+754G>C c.316+1293G>C (n.316+1293G>C) c.514+1293G>C (n.514+1293G>C) c.*142G>C (n.*142G>C) c.3657G>C (p.Gln1219His) c.3627G>C (p.Gln1209His) c.3753G>C (p.Gln1251His) c.3042G>C (p.Gln1014His) c.3597+754G>C (n.3597+754G>C) c.3547+1293G>C (n.3547+1293G>C) c.2979G>C (p.Gln993His) c.2946G>C (p.Gln982His) c.3159G>C (p.Gln1053His) | |
X | g.53235029C>T | CA516673819 | IQSEC2 | c.3816G>A (p.Gln1272=) c.1453+754G>A c.962+754G>A c.316+1293G>A (n.316+1293G>A) c.514+1293G>A (n.514+1293G>A) c.*142G>A (n.*142G>A) c.3657G>A (p.Gln1219=) c.3627G>A (p.Gln1209=) c.3753G>A (p.Gln1251=) c.3042G>A (p.Gln1014=) c.3597+754G>A (n.3597+754G>A) c.3547+1293G>A (n.3547+1293G>A) c.2979G>A (p.Gln993=) c.2946G>A (p.Gln982=) c.3159G>A (p.Gln1053=) | gnomAD v4 |
X | g.53235030T>A | CA413141718 | IQSEC2 | c.3815A>T (p.Gln1272Leu) c.1453+753A>T c.962+753A>T c.316+1292A>T (n.316+1292A>T) c.514+1292A>T (n.514+1292A>T) c.*141A>T (n.*141A>T) c.3656A>T (p.Gln1219Leu) c.3626A>T (p.Gln1209Leu) c.3752A>T (p.Gln1251Leu) c.3041A>T (p.Gln1014Leu) c.3597+753A>T (n.3597+753A>T) c.3547+1292A>T (n.3547+1292A>T) c.2978A>T (p.Gln993Leu) c.2945A>T (p.Gln982Leu) c.3158A>T (p.Gln1053Leu) | |
X | g.53235030T>C | CA413141715 | IQSEC2 | c.3815A>G (p.Gln1272Arg) c.1453+753A>G c.962+753A>G c.316+1292A>G (n.316+1292A>G) c.514+1292A>G (n.514+1292A>G) c.*141A>G (n.*141A>G) c.3656A>G (p.Gln1219Arg) c.3626A>G (p.Gln1209Arg) c.3752A>G (p.Gln1251Arg) c.3041A>G (p.Gln1014Arg) c.3597+753A>G (n.3597+753A>G) c.3547+1292A>G (n.3547+1292A>G) c.2978A>G (p.Gln993Arg) c.2945A>G (p.Gln982Arg) c.3158A>G (p.Gln1053Arg) | |
X | g.53235030T>G | CA413141711 | IQSEC2 | c.3815A>C (p.Gln1272Pro) c.1453+753A>C c.962+753A>C c.316+1292A>C (n.316+1292A>C) c.514+1292A>C (n.514+1292A>C) c.*141A>C (n.*141A>C) c.3656A>C (p.Gln1219Pro) c.3626A>C (p.Gln1209Pro) c.3752A>C (p.Gln1251Pro) c.3041A>C (p.Gln1014Pro) c.3597+753A>C (n.3597+753A>C) c.3547+1292A>C (n.3547+1292A>C) c.2978A>C (p.Gln993Pro) c.2945A>C (p.Gln982Pro) c.3158A>C (p.Gln1053Pro) | |
X | g.53235031G>A | CA413141723 | IQSEC2 | c.3814C>T (p.Gln1272Ter) c.1453+752C>T c.962+752C>T c.316+1291C>T (n.316+1291C>T) c.514+1291C>T (n.514+1291C>T) c.*140C>T (n.*140C>T) c.3655C>T (p.Gln1219Ter) c.3625C>T (p.Gln1209Ter) c.3751C>T (p.Gln1251Ter) c.3040C>T (p.Gln1014Ter) c.3597+752C>T (n.3597+752C>T) c.3547+1291C>T (n.3547+1291C>T) c.2977C>T (p.Gln993Ter) c.2944C>T (p.Gln982Ter) c.3157C>T (p.Gln1053Ter) | |
X | g.53235031G>C | CA413141725 | IQSEC2 | c.3814C>G (p.Gln1272Glu) c.1453+752C>G c.962+752C>G c.316+1291C>G (n.316+1291C>G) c.514+1291C>G (n.514+1291C>G) c.*140C>G (n.*140C>G) c.3655C>G (p.Gln1219Glu) c.3625C>G (p.Gln1209Glu) c.3751C>G (p.Gln1251Glu) c.3040C>G (p.Gln1014Glu) c.3597+752C>G (n.3597+752C>G) c.3547+1291C>G (n.3547+1291C>G) c.2977C>G (p.Gln993Glu) c.2944C>G (p.Gln982Glu) c.3157C>G (p.Gln1053Glu) | |
X | g.53235031G>T | CA413141727 | IQSEC2 | c.3814C>A (p.Gln1272Lys) c.1453+752C>A c.962+752C>A c.316+1291C>A (n.316+1291C>A) c.514+1291C>A (n.514+1291C>A) c.*140C>A (n.*140C>A) c.3655C>A (p.Gln1219Lys) c.3625C>A (p.Gln1209Lys) c.3751C>A (p.Gln1251Lys) c.3040C>A (p.Gln1014Lys) c.3597+752C>A (n.3597+752C>A) c.3547+1291C>A (n.3547+1291C>A) c.2977C>A (p.Gln993Lys) c.2944C>A (p.Gln982Lys) c.3157C>A (p.Gln1053Lys) | |
X | g.53235032G>A | CA516673824 | IQSEC2 | c.3813C>T (p.Phe1271=) c.1453+751C>T c.962+751C>T c.316+1290C>T (n.316+1290C>T) c.514+1290C>T (n.514+1290C>T) c.*139C>T (n.*139C>T) c.3654C>T (p.Phe1218=) c.3624C>T (p.Phe1208=) c.3750C>T (p.Phe1250=) c.3039C>T (p.Phe1013=) c.3597+751C>T (n.3597+751C>T) c.3547+1290C>T (n.3547+1290C>T) c.2976C>T (p.Phe992=) c.2943C>T (p.Phe981=) c.3156C>T (p.Phe1052=) | gnomAD v4 |
X | g.53235032G>C | CA413141731 | IQSEC2 | c.3813C>G (p.Phe1271Leu) c.1453+751C>G c.962+751C>G c.316+1290C>G (n.316+1290C>G) c.514+1290C>G (n.514+1290C>G) c.*139C>G (n.*139C>G) c.3654C>G (p.Phe1218Leu) c.3624C>G (p.Phe1208Leu) c.3750C>G (p.Phe1250Leu) c.3039C>G (p.Phe1013Leu) c.3597+751C>G (n.3597+751C>G) c.3547+1290C>G (n.3547+1290C>G) c.2976C>G (p.Phe992Leu) c.2943C>G (p.Phe981Leu) c.3156C>G (p.Phe1052Leu) | gnomAD v4 |
X | g.53235032G>T | CA413141735 | IQSEC2 | c.3813C>A (p.Phe1271Leu) c.1453+751C>A c.962+751C>A c.316+1290C>A (n.316+1290C>A) c.514+1290C>A (n.514+1290C>A) c.*139C>A (n.*139C>A) c.3654C>A (p.Phe1218Leu) c.3624C>A (p.Phe1208Leu) c.3750C>A (p.Phe1250Leu) c.3039C>A (p.Phe1013Leu) c.3597+751C>A (n.3597+751C>A) c.3547+1290C>A (n.3547+1290C>A) c.2976C>A (p.Phe992Leu) c.2943C>A (p.Phe981Leu) c.3156C>A (p.Phe1052Leu) | |
X | g.53235033A>C | CA413141741 | IQSEC2 | c.3812T>G (p.Phe1271Cys) c.1453+750T>G c.962+750T>G c.316+1289T>G (n.316+1289T>G) c.514+1289T>G (n.514+1289T>G) c.*138T>G (n.*138T>G) c.3653T>G (p.Phe1218Cys) c.3623T>G (p.Phe1208Cys) c.3749T>G (p.Phe1250Cys) c.3038T>G (p.Phe1013Cys) c.3597+750T>G (n.3597+750T>G) c.3547+1289T>G (n.3547+1289T>G) c.2975T>G (p.Phe992Cys) c.2942T>G (p.Phe981Cys) c.3155T>G (p.Phe1052Cys) | |
X | g.53235033A>G | CA413141740 | IQSEC2 | c.3812T>C (p.Phe1271Ser) c.1453+750T>C c.962+750T>C c.316+1289T>C (n.316+1289T>C) c.514+1289T>C (n.514+1289T>C) c.*138T>C (n.*138T>C) c.3653T>C (p.Phe1218Ser) c.3623T>C (p.Phe1208Ser) c.3749T>C (p.Phe1250Ser) c.3038T>C (p.Phe1013Ser) c.3597+750T>C (n.3597+750T>C) c.3547+1289T>C (n.3547+1289T>C) c.2975T>C (p.Phe992Ser) c.2942T>C (p.Phe981Ser) c.3155T>C (p.Phe1052Ser) | |
X | g.53235033A>T | CA413141738 | IQSEC2 | c.3812T>A (p.Phe1271Tyr) c.1453+750T>A c.962+750T>A c.316+1289T>A (n.316+1289T>A) c.514+1289T>A (n.514+1289T>A) c.*138T>A (n.*138T>A) c.3653T>A (p.Phe1218Tyr) c.3623T>A (p.Phe1208Tyr) c.3749T>A (p.Phe1250Tyr) c.3038T>A (p.Phe1013Tyr) c.3597+750T>A (n.3597+750T>A) c.3547+1289T>A (n.3547+1289T>A) c.2975T>A (p.Phe992Tyr) c.2942T>A (p.Phe981Tyr) c.3155T>A (p.Phe1052Tyr) | |
X | g.53235034A>C | CA413141744 | IQSEC2 | c.3811T>G (p.Phe1271Val) c.1453+749T>G c.962+749T>G c.316+1288T>G (n.316+1288T>G) c.514+1288T>G (n.514+1288T>G) c.*137T>G (n.*137T>G) c.3652T>G (p.Phe1218Val) c.3622T>G (p.Phe1208Val) c.3748T>G (p.Phe1250Val) c.3037T>G (p.Phe1013Val) c.3597+749T>G (n.3597+749T>G) c.3547+1288T>G (n.3547+1288T>G) c.2974T>G (p.Phe992Val) c.2941T>G (p.Phe981Val) c.3154T>G (p.Phe1052Val) | |
X | g.53235034A>G | CA413141746 | IQSEC2 | c.3811T>C (p.Phe1271Leu) c.1453+749T>C c.962+749T>C c.316+1288T>C (n.316+1288T>C) c.514+1288T>C (n.514+1288T>C) c.*137T>C (n.*137T>C) c.3652T>C (p.Phe1218Leu) c.3622T>C (p.Phe1208Leu) c.3748T>C (p.Phe1250Leu) c.3037T>C (p.Phe1013Leu) c.3597+749T>C (n.3597+749T>C) c.3547+1288T>C (n.3547+1288T>C) c.2974T>C (p.Phe992Leu) c.2941T>C (p.Phe981Leu) c.3154T>C (p.Phe1052Leu) | |
X | g.53235034A>T | CA413141749 | IQSEC2 | c.3811T>A (p.Phe1271Ile) c.1453+749T>A c.962+749T>A c.316+1288T>A (n.316+1288T>A) c.514+1288T>A (n.514+1288T>A) c.*137T>A (n.*137T>A) c.3652T>A (p.Phe1218Ile) c.3622T>A (p.Phe1208Ile) c.3748T>A (p.Phe1250Ile) c.3037T>A (p.Phe1013Ile) c.3597+749T>A (n.3597+749T>A) c.3547+1288T>A (n.3547+1288T>A) c.2974T>A (p.Phe992Ile) c.2941T>A (p.Phe981Ile) c.3154T>A (p.Phe1052Ile) | |
X | g.53235035G>A | CA516673831 | IQSEC2 | c.3810C>T (p.Pro1270=) c.1453+748C>T c.962+748C>T c.316+1287C>T (n.316+1287C>T) c.514+1287C>T (n.514+1287C>T) c.*136C>T (n.*136C>T) c.3651C>T (p.Pro1217=) c.3621C>T (p.Pro1207=) c.3747C>T (p.Pro1249=) c.3036C>T (p.Pro1012=) c.3597+748C>T (n.3597+748C>T) c.3547+1287C>T (n.3547+1287C>T) c.2973C>T (p.Pro991=) c.2940C>T (p.Pro980=) c.3153C>T (p.Pro1051=) | COSMIC COSMIC |
X | g.53235035G>C | CA516673832 | IQSEC2 | c.3810C>G (p.Pro1270=) c.1453+748C>G c.962+748C>G c.316+1287C>G (n.316+1287C>G) c.514+1287C>G (n.514+1287C>G) c.*136C>G (n.*136C>G) c.3651C>G (p.Pro1217=) c.3621C>G (p.Pro1207=) c.3747C>G (p.Pro1249=) c.3036C>G (p.Pro1012=) c.3597+748C>G (n.3597+748C>G) c.3547+1287C>G (n.3547+1287C>G) c.2973C>G (p.Pro991=) c.2940C>G (p.Pro980=) c.3153C>G (p.Pro1051=) | |
X | g.53235035G>T | CA516673833 | IQSEC2 | c.3810C>A (p.Pro1270=) c.1453+748C>A c.962+748C>A c.316+1287C>A (n.316+1287C>A) c.514+1287C>A (n.514+1287C>A) c.*136C>A (n.*136C>A) c.3651C>A (p.Pro1217=) c.3621C>A (p.Pro1207=) c.3747C>A (p.Pro1249=) c.3036C>A (p.Pro1012=) c.3597+748C>A (n.3597+748C>A) c.3547+1287C>A (n.3547+1287C>A) c.2973C>A (p.Pro991=) c.2940C>A (p.Pro980=) c.3153C>A (p.Pro1051=) | |
X | g.53235036G>A | CA413141755 | IQSEC2 | c.3809C>T (p.Pro1270Leu) c.1453+747C>T c.962+747C>T c.316+1286C>T (n.316+1286C>T) c.514+1286C>T (n.514+1286C>T) c.*135C>T (n.*135C>T) c.3650C>T (p.Pro1217Leu) c.3620C>T (p.Pro1207Leu) c.3746C>T (p.Pro1249Leu) c.3035C>T (p.Pro1012Leu) c.3597+747C>T (n.3597+747C>T) c.3547+1286C>T (n.3547+1286C>T) c.2972C>T (p.Pro991Leu) c.2939C>T (p.Pro980Leu) c.3152C>T (p.Pro1051Leu) | |
X | g.53235036G>C | CA413141759 | IQSEC2 | c.3809C>G (p.Pro1270Arg) c.1453+747C>G c.962+747C>G c.316+1286C>G (n.316+1286C>G) c.514+1286C>G (n.514+1286C>G) c.*135C>G (n.*135C>G) c.3650C>G (p.Pro1217Arg) c.3620C>G (p.Pro1207Arg) c.3746C>G (p.Pro1249Arg) c.3035C>G (p.Pro1012Arg) c.3597+747C>G (n.3597+747C>G) c.3547+1286C>G (n.3547+1286C>G) c.2972C>G (p.Pro991Arg) c.2939C>G (p.Pro980Arg) c.3152C>G (p.Pro1051Arg) | |
X | g.53235036G>T | CA413141762 | IQSEC2 | c.3809C>A (p.Pro1270His) c.1453+747C>A c.962+747C>A c.316+1286C>A (n.316+1286C>A) c.514+1286C>A (n.514+1286C>A) c.*135C>A (n.*135C>A) c.3650C>A (p.Pro1217His) c.3620C>A (p.Pro1207His) c.3746C>A (p.Pro1249His) c.3035C>A (p.Pro1012His) c.3597+747C>A (n.3597+747C>A) c.3547+1286C>A (n.3547+1286C>A) c.2972C>A (p.Pro991His) c.2939C>A (p.Pro980His) c.3152C>A (p.Pro1051His) | |
X | g.53235037G>A | CA413141767 | IQSEC2 | c.3808C>T (p.Pro1270Ser) c.1453+746C>T c.962+746C>T c.316+1285C>T (n.316+1285C>T) c.514+1285C>T (n.514+1285C>T) c.*134C>T (n.*134C>T) c.3649C>T (p.Pro1217Ser) c.3619C>T (p.Pro1207Ser) c.3745C>T (p.Pro1249Ser) c.3034C>T (p.Pro1012Ser) c.3597+746C>T (n.3597+746C>T) c.3547+1285C>T (n.3547+1285C>T) c.2971C>T (p.Pro991Ser) c.2938C>T (p.Pro980Ser) c.3151C>T (p.Pro1051Ser) | |
X | g.53235037G>C | CA413141772 | IQSEC2 | c.3808C>G (p.Pro1270Ala) c.1453+746C>G c.962+746C>G c.316+1285C>G (n.316+1285C>G) c.514+1285C>G (n.514+1285C>G) c.*134C>G (n.*134C>G) c.3649C>G (p.Pro1217Ala) c.3619C>G (p.Pro1207Ala) c.3745C>G (p.Pro1249Ala) c.3034C>G (p.Pro1012Ala) c.3597+746C>G (n.3597+746C>G) c.3547+1285C>G (n.3547+1285C>G) c.2971C>G (p.Pro991Ala) c.2938C>G (p.Pro980Ala) c.3151C>G (p.Pro1051Ala) | |
X | g.53235037G>T | CA413141770 | IQSEC2 | c.3808C>A (p.Pro1270Thr) c.1453+746C>A c.962+746C>A c.316+1285C>A (n.316+1285C>A) c.514+1285C>A (n.514+1285C>A) c.*134C>A (n.*134C>A) c.3649C>A (p.Pro1217Thr) c.3619C>A (p.Pro1207Thr) c.3745C>A (p.Pro1249Thr) c.3034C>A (p.Pro1012Thr) c.3597+746C>A (n.3597+746C>A) c.3547+1285C>A (n.3547+1285C>A) c.2971C>A (p.Pro991Thr) c.2938C>A (p.Pro980Thr) c.3151C>A (p.Pro1051Thr) | |
X | g.53235038C>A | CA516673838 | IQSEC2 | c.3807G>T (p.Gly1269=) c.1453+745G>T c.962+745G>T c.316+1284G>T (n.316+1284G>T) c.514+1284G>T (n.514+1284G>T) c.*133G>T (n.*133G>T) c.3648G>T (p.Gly1216=) c.3618G>T (p.Gly1206=) c.3744G>T (p.Gly1248=) c.3033G>T (p.Gly1011=) c.3597+745G>T (n.3597+745G>T) c.3547+1284G>T (n.3547+1284G>T) c.2970G>T (p.Gly990=) c.2937G>T (p.Gly979=) c.3150G>T (p.Gly1050=) | |
X | g.53235038C>G | CA516673840 | IQSEC2 | c.3807G>C (p.Gly1269=) c.1453+745G>C c.962+745G>C c.316+1284G>C (n.316+1284G>C) c.514+1284G>C (n.514+1284G>C) c.*133G>C (n.*133G>C) c.3648G>C (p.Gly1216=) c.3618G>C (p.Gly1206=) c.3744G>C (p.Gly1248=) c.3033G>C (p.Gly1011=) c.3597+745G>C (n.3597+745G>C) c.3547+1284G>C (n.3547+1284G>C) c.2970G>C (p.Gly990=) c.2937G>C (p.Gly979=) c.3150G>C (p.Gly1050=) | |
X | g.53235038C>T | CA516673839 | IQSEC2 | c.3807G>A (p.Gly1269=) c.1453+745G>A c.962+745G>A c.316+1284G>A (n.316+1284G>A) c.514+1284G>A (n.514+1284G>A) c.*133G>A (n.*133G>A) c.3648G>A (p.Gly1216=) c.3618G>A (p.Gly1206=) c.3744G>A (p.Gly1248=) c.3033G>A (p.Gly1011=) c.3597+745G>A (n.3597+745G>A) c.3547+1284G>A (n.3547+1284G>A) c.2970G>A (p.Gly990=) c.2937G>A (p.Gly979=) c.3150G>A (p.Gly1050=) | |
X | g.53235039C>A | CA413141774 | IQSEC2 | c.3806G>T (p.Gly1269Val) c.1453+744G>T c.962+744G>T c.316+1283G>T (n.316+1283G>T) c.514+1283G>T (n.514+1283G>T) c.*132G>T (n.*132G>T) c.3647G>T (p.Gly1216Val) c.3617G>T (p.Gly1206Val) c.3743G>T (p.Gly1248Val) c.3032G>T (p.Gly1011Val) c.3597+744G>T (n.3597+744G>T) c.3547+1283G>T (n.3547+1283G>T) c.2969G>T (p.Gly990Val) c.2936G>T (p.Gly979Val) c.3149G>T (p.Gly1050Val) | |
X | g.53235039C>G | CA413141776 | IQSEC2 | c.3806G>C (p.Gly1269Ala) c.1453+744G>C c.962+744G>C c.316+1283G>C (n.316+1283G>C) c.514+1283G>C (n.514+1283G>C) c.*132G>C (n.*132G>C) c.3647G>C (p.Gly1216Ala) c.3617G>C (p.Gly1206Ala) c.3743G>C (p.Gly1248Ala) c.3032G>C (p.Gly1011Ala) c.3597+744G>C (n.3597+744G>C) c.3547+1283G>C (n.3547+1283G>C) c.2969G>C (p.Gly990Ala) c.2936G>C (p.Gly979Ala) c.3149G>C (p.Gly1050Ala) | |
X | g.53235039C>T | CA413141781 | IQSEC2 | c.3806G>A (p.Gly1269Glu) c.1453+744G>A c.962+744G>A c.316+1283G>A (n.316+1283G>A) c.514+1283G>A (n.514+1283G>A) c.*132G>A (n.*132G>A) c.3647G>A (p.Gly1216Glu) c.3617G>A (p.Gly1206Glu) c.3743G>A (p.Gly1248Glu) c.3032G>A (p.Gly1011Glu) c.3597+744G>A (n.3597+744G>A) c.3547+1283G>A (n.3547+1283G>A) c.2969G>A (p.Gly990Glu) c.2936G>A (p.Gly979Glu) c.3149G>A (p.Gly1050Glu) | |
X | g.53235040C>A | CA413141787 | IQSEC2 | c.3805G>T (p.Gly1269Trp) c.1453+743G>T c.962+743G>T c.316+1282G>T (n.316+1282G>T) c.514+1282G>T (n.514+1282G>T) c.*131G>T (n.*131G>T) c.3646G>T (p.Gly1216Trp) c.3616G>T (p.Gly1206Trp) c.3742G>T (p.Gly1248Trp) c.3031G>T (p.Gly1011Trp) c.3597+743G>T (n.3597+743G>T) c.3547+1282G>T (n.3547+1282G>T) c.2968G>T (p.Gly990Trp) c.2935G>T (p.Gly979Trp) c.3148G>T (p.Gly1050Trp) | |
X | g.53235040C>G | CA413141789 | IQSEC2 | c.3805G>C (p.Gly1269Arg) c.1453+743G>C c.962+743G>C c.316+1282G>C (n.316+1282G>C) c.514+1282G>C (n.514+1282G>C) c.*131G>C (n.*131G>C) c.3646G>C (p.Gly1216Arg) c.3616G>C (p.Gly1206Arg) c.3742G>C (p.Gly1248Arg) c.3031G>C (p.Gly1011Arg) c.3597+743G>C (n.3597+743G>C) c.3547+1282G>C (n.3547+1282G>C) c.2968G>C (p.Gly990Arg) c.2935G>C (p.Gly979Arg) c.3148G>C (p.Gly1050Arg) | |
X | g.53235040C>T | CA413141792 | IQSEC2 | c.3805G>A (p.Gly1269Arg) c.1453+743G>A c.962+743G>A c.316+1282G>A (n.316+1282G>A) c.514+1282G>A (n.514+1282G>A) c.*131G>A (n.*131G>A) c.3646G>A (p.Gly1216Arg) c.3616G>A (p.Gly1206Arg) c.3742G>A (p.Gly1248Arg) c.3031G>A (p.Gly1011Arg) c.3597+743G>A (n.3597+743G>A) c.3547+1282G>A (n.3547+1282G>A) c.2968G>A (p.Gly990Arg) c.2935G>A (p.Gly979Arg) c.3148G>A (p.Gly1050Arg) | |
X | g.53235041C>A | CA413141802 | IQSEC2 | c.3804G>T (p.Lys1268Asn) c.1453+742G>T c.962+742G>T c.316+1281G>T (n.316+1281G>T) c.514+1281G>T (n.514+1281G>T) c.*130G>T (n.*130G>T) c.3645G>T (p.Lys1215Asn) c.3615G>T (p.Lys1205Asn) c.3741G>T (p.Lys1247Asn) c.3030G>T (p.Lys1010Asn) c.3597+742G>T (n.3597+742G>T) c.3547+1281G>T (n.3547+1281G>T) c.2967G>T (p.Lys989Asn) c.2934G>T (p.Lys978Asn) c.3147G>T (p.Lys1049Asn) | |
X | g.53235041C>G | CA413141808 | IQSEC2 | c.3804G>C (p.Lys1268Asn) c.1453+742G>C c.962+742G>C c.316+1281G>C (n.316+1281G>C) c.514+1281G>C (n.514+1281G>C) c.*130G>C (n.*130G>C) c.3645G>C (p.Lys1215Asn) c.3615G>C (p.Lys1205Asn) c.3741G>C (p.Lys1247Asn) c.3030G>C (p.Lys1010Asn) c.3597+742G>C (n.3597+742G>C) c.3547+1281G>C (n.3547+1281G>C) c.2967G>C (p.Lys989Asn) c.2934G>C (p.Lys978Asn) c.3147G>C (p.Lys1049Asn) | |
X | g.53235041C>T | CA516673847 | IQSEC2 | c.3804G>A (p.Lys1268=) c.1453+742G>A c.962+742G>A c.316+1281G>A (n.316+1281G>A) c.514+1281G>A (n.514+1281G>A) c.*130G>A (n.*130G>A) c.3645G>A (p.Lys1215=) c.3615G>A (p.Lys1205=) c.3741G>A (p.Lys1247=) c.3030G>A (p.Lys1010=) c.3597+742G>A (n.3597+742G>A) c.3547+1281G>A (n.3547+1281G>A) c.2967G>A (p.Lys989=) c.2934G>A (p.Lys978=) c.3147G>A (p.Lys1049=) | COSMIC COSMIC |
X | g.53235042T>A | CA413141811 | IQSEC2 | c.3803A>T (p.Lys1268Met) c.1453+741A>T c.962+741A>T c.316+1280A>T (n.316+1280A>T) c.514+1280A>T (n.514+1280A>T) c.*129A>T (n.*129A>T) c.3644A>T (p.Lys1215Met) c.3614A>T (p.Lys1205Met) c.3740A>T (p.Lys1247Met) c.3029A>T (p.Lys1010Met) c.3597+741A>T (n.3597+741A>T) c.3547+1280A>T (n.3547+1280A>T) c.2966A>T (p.Lys989Met) c.2933A>T (p.Lys978Met) c.3146A>T (p.Lys1049Met) | |
X | g.53235042T>C | CA413141812 | IQSEC2 | c.3803A>G (p.Lys1268Arg) c.1453+741A>G c.962+741A>G c.316+1280A>G (n.316+1280A>G) c.514+1280A>G (n.514+1280A>G) c.*129A>G (n.*129A>G) c.3644A>G (p.Lys1215Arg) c.3614A>G (p.Lys1205Arg) c.3740A>G (p.Lys1247Arg) c.3029A>G (p.Lys1010Arg) c.3597+741A>G (n.3597+741A>G) c.3547+1280A>G (n.3547+1280A>G) c.2966A>G (p.Lys989Arg) c.2933A>G (p.Lys978Arg) c.3146A>G (p.Lys1049Arg) | |
X | g.53235042T>G | CA413141815 | IQSEC2 | c.3803A>C (p.Lys1268Thr) c.1453+741A>C c.962+741A>C c.316+1280A>C (n.316+1280A>C) c.514+1280A>C (n.514+1280A>C) c.*129A>C (n.*129A>C) c.3644A>C (p.Lys1215Thr) c.3614A>C (p.Lys1205Thr) c.3740A>C (p.Lys1247Thr) c.3029A>C (p.Lys1010Thr) c.3597+741A>C (n.3597+741A>C) c.3547+1280A>C (n.3547+1280A>C) c.2966A>C (p.Lys989Thr) c.2933A>C (p.Lys978Thr) c.3146A>C (p.Lys1049Thr) | |
X | g.53235043T>A | CA413141819 | IQSEC2 | c.3802A>T (p.Lys1268Ter) c.1453+740A>T c.962+740A>T c.316+1279A>T (n.316+1279A>T) c.514+1279A>T (n.514+1279A>T) c.*128A>T (n.*128A>T) c.3643A>T (p.Lys1215Ter) c.3613A>T (p.Lys1205Ter) c.3739A>T (p.Lys1247Ter) c.3028A>T (p.Lys1010Ter) c.3597+740A>T (n.3597+740A>T) c.3547+1279A>T (n.3547+1279A>T) c.2965A>T (p.Lys989Ter) c.2932A>T (p.Lys978Ter) c.3145A>T (p.Lys1049Ter) | |
X | g.53235043T>C | CA413141824 | IQSEC2 | c.3802A>G (p.Lys1268Glu) c.1453+740A>G c.962+740A>G c.316+1279A>G (n.316+1279A>G) c.514+1279A>G (n.514+1279A>G) c.*128A>G (n.*128A>G) c.3643A>G (p.Lys1215Glu) c.3613A>G (p.Lys1205Glu) c.3739A>G (p.Lys1247Glu) c.3028A>G (p.Lys1010Glu) c.3597+740A>G (n.3597+740A>G) c.3547+1279A>G (n.3547+1279A>G) c.2965A>G (p.Lys989Glu) c.2932A>G (p.Lys978Glu) c.3145A>G (p.Lys1049Glu) | |
X | g.53235043T>G | CA413141821 | IQSEC2 | c.3802A>C (p.Lys1268Gln) c.1453+740A>C c.962+740A>C c.316+1279A>C (n.316+1279A>C) c.514+1279A>C (n.514+1279A>C) c.*128A>C (n.*128A>C) c.3643A>C (p.Lys1215Gln) c.3613A>C (p.Lys1205Gln) c.3739A>C (p.Lys1247Gln) c.3028A>C (p.Lys1010Gln) c.3597+740A>C (n.3597+740A>C) c.3547+1279A>C (n.3547+1279A>C) c.2965A>C (p.Lys989Gln) c.2932A>C (p.Lys978Gln) c.3145A>C (p.Lys1049Gln) | |
X | g.53235044G>A | CA516673854 | IQSEC2 | c.3801C>T (p.Gly1267=) c.1453+739C>T c.962+739C>T c.316+1278C>T (n.316+1278C>T) c.514+1278C>T (n.514+1278C>T) c.*127C>T (n.*127C>T) c.3642C>T (p.Gly1214=) c.3612C>T (p.Gly1204=) c.3738C>T (p.Gly1246=) c.3027C>T (p.Gly1009=) c.3597+739C>T (n.3597+739C>T) c.3547+1278C>T (n.3547+1278C>T) c.2964C>T (p.Gly988=) c.2931C>T (p.Gly977=) c.3144C>T (p.Gly1048=) | |
X | g.53235044G>C | CA516673856 | IQSEC2 | c.3801C>G (p.Gly1267=) c.1453+739C>G c.962+739C>G c.316+1278C>G (n.316+1278C>G) c.514+1278C>G (n.514+1278C>G) c.*127C>G (n.*127C>G) c.3642C>G (p.Gly1214=) c.3612C>G (p.Gly1204=) c.3738C>G (p.Gly1246=) c.3027C>G (p.Gly1009=) c.3597+739C>G (n.3597+739C>G) c.3547+1278C>G (n.3547+1278C>G) c.2964C>G (p.Gly988=) c.2931C>G (p.Gly977=) c.3144C>G (p.Gly1048=) | |
X | g.53235044G>T | CA516673858 | IQSEC2 | c.3801C>A (p.Gly1267=) c.1453+739C>A c.962+739C>A c.316+1278C>A (n.316+1278C>A) c.514+1278C>A (n.514+1278C>A) c.*127C>A (n.*127C>A) c.3642C>A (p.Gly1214=) c.3612C>A (p.Gly1204=) c.3738C>A (p.Gly1246=) c.3027C>A (p.Gly1009=) c.3597+739C>A (n.3597+739C>A) c.3547+1278C>A (n.3547+1278C>A) c.2964C>A (p.Gly988=) c.2931C>A (p.Gly977=) c.3144C>A (p.Gly1048=) | gnomAD v4 |
X | g.53235045C>A | CA413141828 | IQSEC2 | c.3800G>T (p.Gly1267Val) c.1453+738G>T c.962+738G>T c.316+1277G>T (n.316+1277G>T) c.514+1277G>T (n.514+1277G>T) c.*126G>T (n.*126G>T) c.3641G>T (p.Gly1214Val) c.3611G>T (p.Gly1204Val) c.3737G>T (p.Gly1246Val) c.3026G>T (p.Gly1009Val) c.3597+738G>T (n.3597+738G>T) c.3547+1277G>T (n.3547+1277G>T) c.2963G>T (p.Gly988Val) c.2930G>T (p.Gly977Val) c.3143G>T (p.Gly1048Val) | |
X | g.53235045C>G | CA413141834 | IQSEC2 | c.3800G>C (p.Gly1267Ala) c.1453+738G>C c.962+738G>C c.316+1277G>C (n.316+1277G>C) c.514+1277G>C (n.514+1277G>C) c.*126G>C (n.*126G>C) c.3641G>C (p.Gly1214Ala) c.3611G>C (p.Gly1204Ala) c.3737G>C (p.Gly1246Ala) c.3026G>C (p.Gly1009Ala) c.3597+738G>C (n.3597+738G>C) c.3547+1277G>C (n.3547+1277G>C) c.2963G>C (p.Gly988Ala) c.2930G>C (p.Gly977Ala) c.3143G>C (p.Gly1048Ala) | |
X | g.53235045C>T | CA413141831 | IQSEC2 | c.3800G>A (p.Gly1267Asp) c.1453+738G>A c.962+738G>A c.316+1277G>A (n.316+1277G>A) c.514+1277G>A (n.514+1277G>A) c.*126G>A (n.*126G>A) c.3641G>A (p.Gly1214Asp) c.3611G>A (p.Gly1204Asp) c.3737G>A (p.Gly1246Asp) c.3026G>A (p.Gly1009Asp) c.3597+738G>A (n.3597+738G>A) c.3547+1277G>A (n.3547+1277G>A) c.2963G>A (p.Gly988Asp) c.2930G>A (p.Gly977Asp) c.3143G>A (p.Gly1048Asp) | |
X | g.53235046C>A | CA413141841 | IQSEC2 | c.3799G>T (p.Gly1267Cys) c.1453+737G>T c.962+737G>T c.316+1276G>T (n.316+1276G>T) c.514+1276G>T (n.514+1276G>T) c.*125G>T (n.*125G>T) c.3640G>T (p.Gly1214Cys) c.3610G>T (p.Gly1204Cys) c.3736G>T (p.Gly1246Cys) c.3025G>T (p.Gly1009Cys) c.3597+737G>T (n.3597+737G>T) c.3547+1276G>T (n.3547+1276G>T) c.2962G>T (p.Gly988Cys) c.2929G>T (p.Gly977Cys) c.3142G>T (p.Gly1048Cys) | |
X | g.53235046C= | CA2429770677 | IQSEC2 | c.3799G= (p.Gly1267=) c.1453+737G= c.962+737G= c.316+1276G= (n.316+1276G=) c.514+1276G= (n.514+1276G=) c.*125G= (n.*125G=) c.3640G= (p.Gly1214=) c.3610G= (p.Gly1204=) c.3736G= (p.Gly1246=) c.3025G= (p.Gly1009=) c.3597+737G= (n.3597+737G=) c.3547+1276G= (n.3547+1276G=) c.2962G= (p.Gly988=) c.2929G= (p.Gly977=) c.3142G= (p.Gly1048=) | |
X | g.53235046C>G | CA413141847 | IQSEC2 | c.3799G>C (p.Gly1267Arg) c.1453+737G>C c.962+737G>C c.316+1276G>C (n.316+1276G>C) c.514+1276G>C (n.514+1276G>C) c.*125G>C (n.*125G>C) c.3640G>C (p.Gly1214Arg) c.3610G>C (p.Gly1204Arg) c.3736G>C (p.Gly1246Arg) c.3025G>C (p.Gly1009Arg) c.3597+737G>C (n.3597+737G>C) c.3547+1276G>C (n.3547+1276G>C) c.2962G>C (p.Gly988Arg) c.2929G>C (p.Gly977Arg) c.3142G>C (p.Gly1048Arg) | dbSNP gnomAD v2 |
X | g.53235046C>T | CA413141844 | IQSEC2 | c.3799G>A (p.Gly1267Ser) c.1453+737G>A c.962+737G>A c.316+1276G>A (n.316+1276G>A) c.514+1276G>A (n.514+1276G>A) c.*125G>A (n.*125G>A) c.3640G>A (p.Gly1214Ser) c.3610G>A (p.Gly1204Ser) c.3736G>A (p.Gly1246Ser) c.3025G>A (p.Gly1009Ser) c.3597+737G>A (n.3597+737G>A) c.3547+1276G>A (n.3547+1276G>A) c.2962G>A (p.Gly988Ser) c.2929G>A (p.Gly977Ser) c.3142G>A (p.Gly1048Ser) | ClinVar dbSNP gnomAD v4 |
X | g.53235047C>A | CA516673860 | IQSEC2 | c.3798G>T (p.Arg1266=) c.1453+736G>T c.962+736G>T c.316+1275G>T (n.316+1275G>T) c.514+1275G>T (n.514+1275G>T) c.*124G>T (n.*124G>T) c.3639G>T (p.Arg1213=) c.3609G>T (p.Arg1203=) c.3735G>T (p.Arg1245=) c.3024G>T (p.Arg1008=) c.3597+736G>T (n.3597+736G>T) c.3547+1275G>T (n.3547+1275G>T) c.2961G>T (p.Arg987=) c.2928G>T (p.Arg976=) c.3141G>T (p.Arg1047=) | |
X | g.53235047C= | CA2429770678 | IQSEC2 | c.3798G= (p.Arg1266=) c.1453+736G= c.962+736G= c.316+1275G= (n.316+1275G=) c.514+1275G= (n.514+1275G=) c.*124G= (n.*124G=) c.3639G= (p.Arg1213=) c.3609G= (p.Arg1203=) c.3735G= (p.Arg1245=) c.3024G= (p.Arg1008=) c.3597+736G= (n.3597+736G=) c.3547+1275G= (n.3547+1275G=) c.2961G= (p.Arg987=) c.2928G= (p.Arg976=) c.3141G= (p.Arg1047=) | |
X | g.53235047C>G | CA516673861 | IQSEC2 | c.3798G>C (p.Arg1266=) c.1453+736G>C c.962+736G>C c.316+1275G>C (n.316+1275G>C) c.514+1275G>C (n.514+1275G>C) c.*124G>C (n.*124G>C) c.3639G>C (p.Arg1213=) c.3609G>C (p.Arg1203=) c.3735G>C (p.Arg1245=) c.3024G>C (p.Arg1008=) c.3597+736G>C (n.3597+736G>C) c.3547+1275G>C (n.3547+1275G>C) c.2961G>C (p.Arg987=) c.2928G>C (p.Arg976=) c.3141G>C (p.Arg1047=) | |
X | g.53235047C>T | CA516673863 | IQSEC2 | c.3798G>A (p.Arg1266=) c.1453+736G>A c.962+736G>A c.316+1275G>A (n.316+1275G>A) c.514+1275G>A (n.514+1275G>A) c.*124G>A (n.*124G>A) c.3639G>A (p.Arg1213=) c.3609G>A (p.Arg1203=) c.3735G>A (p.Arg1245=) c.3024G>A (p.Arg1008=) c.3597+736G>A (n.3597+736G>A) c.3547+1275G>A (n.3547+1275G>A) c.2961G>A (p.Arg987=) c.2928G>A (p.Arg976=) c.3141G>A (p.Arg1047=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53235048C>A | CA413141851 | IQSEC2 | c.3797G>T (p.Arg1266Leu) c.1453+735G>T c.962+735G>T c.316+1274G>T (n.316+1274G>T) c.514+1274G>T (n.514+1274G>T) c.*123G>T (n.*123G>T) c.3638G>T (p.Arg1213Leu) c.3608G>T (p.Arg1203Leu) c.3734G>T (p.Arg1245Leu) c.3023G>T (p.Arg1008Leu) c.3597+735G>T (n.3597+735G>T) c.3547+1274G>T (n.3547+1274G>T) c.2960G>T (p.Arg987Leu) c.2927G>T (p.Arg976Leu) c.3140G>T (p.Arg1047Leu) | |
X | g.53235048C= | CA2429770679 | IQSEC2 | c.3797G= (p.Arg1266=) c.1453+735G= c.962+735G= c.316+1274G= (n.316+1274G=) c.514+1274G= (n.514+1274G=) c.*123G= (n.*123G=) c.3638G= (p.Arg1213=) c.3608G= (p.Arg1203=) c.3734G= (p.Arg1245=) c.3023G= (p.Arg1008=) c.3597+735G= (n.3597+735G=) c.3547+1274G= (n.3547+1274G=) c.2960G= (p.Arg987=) c.2927G= (p.Arg976=) c.3140G= (p.Arg1047=) | |
X | g.53235048C>G | CA413141855 | IQSEC2 | c.3797G>C (p.Arg1266Pro) c.1453+735G>C c.962+735G>C c.316+1274G>C (n.316+1274G>C) c.514+1274G>C (n.514+1274G>C) c.*123G>C (n.*123G>C) c.3638G>C (p.Arg1213Pro) c.3608G>C (p.Arg1203Pro) c.3734G>C (p.Arg1245Pro) c.3023G>C (p.Arg1008Pro) c.3597+735G>C (n.3597+735G>C) c.3547+1274G>C (n.3547+1274G>C) c.2960G>C (p.Arg987Pro) c.2927G>C (p.Arg976Pro) c.3140G>C (p.Arg1047Pro) | ClinVar dbSNP |
X | g.53235048C>T | CA413141858 | IQSEC2 | c.3797G>A (p.Arg1266Gln) c.1453+735G>A c.962+735G>A c.316+1274G>A (n.316+1274G>A) c.514+1274G>A (n.514+1274G>A) c.*123G>A (n.*123G>A) c.3638G>A (p.Arg1213Gln) c.3608G>A (p.Arg1203Gln) c.3734G>A (p.Arg1245Gln) c.3023G>A (p.Arg1008Gln) c.3597+735G>A (n.3597+735G>A) c.3547+1274G>A (n.3547+1274G>A) c.2960G>A (p.Arg987Gln) c.2927G>A (p.Arg976Gln) c.3140G>A (p.Arg1047Gln) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235049G>A | CA413141862 | IQSEC2 | c.3796C>T (p.Arg1266Trp) c.1453+734C>T c.962+734C>T c.316+1273C>T (n.316+1273C>T) c.514+1273C>T (n.514+1273C>T) c.*122C>T (n.*122C>T) c.3637C>T (p.Arg1213Trp) c.3607C>T (p.Arg1203Trp) c.3733C>T (p.Arg1245Trp) c.3022C>T (p.Arg1008Trp) c.3597+734C>T (n.3597+734C>T) c.3547+1273C>T (n.3547+1273C>T) c.2959C>T (p.Arg987Trp) c.2926C>T (p.Arg976Trp) c.3139C>T (p.Arg1047Trp) | dbSNP gnomAD v4 |
X | g.53235049G>C | CA413141865 | IQSEC2 | c.3796C>G (p.Arg1266Gly) c.1453+734C>G c.962+734C>G c.316+1273C>G (n.316+1273C>G) c.514+1273C>G (n.514+1273C>G) c.*122C>G (n.*122C>G) c.3637C>G (p.Arg1213Gly) c.3607C>G (p.Arg1203Gly) c.3733C>G (p.Arg1245Gly) c.3022C>G (p.Arg1008Gly) c.3597+734C>G (n.3597+734C>G) c.3547+1273C>G (n.3547+1273C>G) c.2959C>G (p.Arg987Gly) c.2926C>G (p.Arg976Gly) c.3139C>G (p.Arg1047Gly) | |
X | g.53235049G= | CA2429770680 | IQSEC2 | c.3796C= (p.Arg1266=) c.1453+734C= c.962+734C= c.316+1273C= (n.316+1273C=) c.514+1273C= (n.514+1273C=) c.*122C= (n.*122C=) c.3637C= (p.Arg1213=) c.3607C= (p.Arg1203=) c.3733C= (p.Arg1245=) c.3022C= (p.Arg1008=) c.3597+734C= (n.3597+734C=) c.3547+1273C= (n.3547+1273C=) c.2959C= (p.Arg987=) c.2926C= (p.Arg976=) c.3139C= (p.Arg1047=) | |
X | g.53235049G>T | CA516673868 | IQSEC2 | c.3796C>A (p.Arg1266=) c.1453+734C>A c.962+734C>A c.316+1273C>A (n.316+1273C>A) c.514+1273C>A (n.514+1273C>A) c.*122C>A (n.*122C>A) c.3637C>A (p.Arg1213=) c.3607C>A (p.Arg1203=) c.3733C>A (p.Arg1245=) c.3022C>A (p.Arg1008=) c.3597+734C>A (n.3597+734C>A) c.3547+1273C>A (n.3547+1273C>A) c.2959C>A (p.Arg987=) c.2926C>A (p.Arg976=) c.3139C>A (p.Arg1047=) | COSMIC COSMIC |
X | g.53235050C>A | CA413141869 | IQSEC2 | c.3795G>T (p.Lys1265Asn) c.1453+733G>T c.962+733G>T c.316+1272G>T (n.316+1272G>T) c.514+1272G>T (n.514+1272G>T) c.*121G>T (n.*121G>T) c.3636G>T (p.Lys1212Asn) c.3606G>T (p.Lys1202Asn) c.3732G>T (p.Lys1244Asn) c.3021G>T (p.Lys1007Asn) c.3597+733G>T (n.3597+733G>T) c.3547+1272G>T (n.3547+1272G>T) c.2958G>T (p.Lys986Asn) c.2925G>T (p.Lys975Asn) c.3138G>T (p.Lys1046Asn) | |
X | g.53235050C= | CA2429770681 | IQSEC2 | c.3795G= (p.Lys1265=) c.1453+733G= c.962+733G= c.316+1272G= (n.316+1272G=) c.514+1272G= (n.514+1272G=) c.*121G= (n.*121G=) c.3636G= (p.Lys1212=) c.3606G= (p.Lys1202=) c.3732G= (p.Lys1244=) c.3021G= (p.Lys1007=) c.3597+733G= (n.3597+733G=) c.3547+1272G= (n.3547+1272G=) c.2958G= (p.Lys986=) c.2925G= (p.Lys975=) c.3138G= (p.Lys1046=) | |
X | g.53235050C>G | CA413141872 | IQSEC2 | c.3795G>C (p.Lys1265Asn) c.1453+733G>C c.962+733G>C c.316+1272G>C (n.316+1272G>C) c.514+1272G>C (n.514+1272G>C) c.*121G>C (n.*121G>C) c.3636G>C (p.Lys1212Asn) c.3606G>C (p.Lys1202Asn) c.3732G>C (p.Lys1244Asn) c.3021G>C (p.Lys1007Asn) c.3597+733G>C (n.3597+733G>C) c.3547+1272G>C (n.3547+1272G>C) c.2958G>C (p.Lys986Asn) c.2925G>C (p.Lys975Asn) c.3138G>C (p.Lys1046Asn) | |
X | g.53235050C>T | CA516673870 | IQSEC2 | c.3795G>A (p.Lys1265=) c.1453+733G>A c.962+733G>A c.316+1272G>A (n.316+1272G>A) c.514+1272G>A (n.514+1272G>A) c.*121G>A (n.*121G>A) c.3636G>A (p.Lys1212=) c.3606G>A (p.Lys1202=) c.3732G>A (p.Lys1244=) c.3021G>A (p.Lys1007=) c.3597+733G>A (n.3597+733G>A) c.3547+1272G>A (n.3547+1272G>A) c.2958G>A (p.Lys986=) c.2925G>A (p.Lys975=) c.3138G>A (p.Lys1046=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235051T>A | CA413141876 | IQSEC2 | c.3794A>T (p.Lys1265Met) c.1453+732A>T c.962+732A>T c.316+1271A>T (n.316+1271A>T) c.514+1271A>T (n.514+1271A>T) c.*120A>T (n.*120A>T) c.3635A>T (p.Lys1212Met) c.3605A>T (p.Lys1202Met) c.3731A>T (p.Lys1244Met) c.3020A>T (p.Lys1007Met) c.3597+732A>T (n.3597+732A>T) c.3547+1271A>T (n.3547+1271A>T) c.2957A>T (p.Lys986Met) c.2924A>T (p.Lys975Met) c.3137A>T (p.Lys1046Met) | |
X | g.53235051T>C | CA10419782 | IQSEC2 | c.3794A>G (p.Lys1265Arg) c.1453+732A>G c.962+732A>G c.316+1271A>G (n.316+1271A>G) c.514+1271A>G (n.514+1271A>G) c.*120A>G (n.*120A>G) c.3635A>G (p.Lys1212Arg) c.3605A>G (p.Lys1202Arg) c.3731A>G (p.Lys1244Arg) c.3020A>G (p.Lys1007Arg) c.3597+732A>G (n.3597+732A>G) c.3547+1271A>G (n.3547+1271A>G) c.2957A>G (p.Lys986Arg) c.2924A>G (p.Lys975Arg) c.3137A>G (p.Lys1046Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53235051T>G | CA413141882 | IQSEC2 | c.3794A>C (p.Lys1265Thr) c.1453+732A>C c.962+732A>C c.316+1271A>C (n.316+1271A>C) c.514+1271A>C (n.514+1271A>C) c.*120A>C (n.*120A>C) c.3635A>C (p.Lys1212Thr) c.3605A>C (p.Lys1202Thr) c.3731A>C (p.Lys1244Thr) c.3020A>C (p.Lys1007Thr) c.3597+732A>C (n.3597+732A>C) c.3547+1271A>C (n.3547+1271A>C) c.2957A>C (p.Lys986Thr) c.2924A>C (p.Lys975Thr) c.3137A>C (p.Lys1046Thr) | |
X | g.53235051T= | CA2429770682 | IQSEC2 | c.3794A= (p.Lys1265=) c.1453+732A= c.962+732A= c.316+1271A= (n.316+1271A=) c.514+1271A= (n.514+1271A=) c.*120A= (n.*120A=) c.3635A= (p.Lys1212=) c.3605A= (p.Lys1202=) c.3731A= (p.Lys1244=) c.3020A= (p.Lys1007=) c.3597+732A= (n.3597+732A=) c.3547+1271A= (n.3547+1271A=) c.2957A= (p.Lys986=) c.2924A= (p.Lys975=) c.3137A= (p.Lys1046=) | |
X | g.53235052T>A | CA413141892 | IQSEC2 | c.3793A>T (p.Lys1265Ter) c.1453+731A>T c.962+731A>T c.316+1270A>T (n.316+1270A>T) c.514+1270A>T (n.514+1270A>T) c.*119A>T (n.*119A>T) c.3634A>T (p.Lys1212Ter) c.3604A>T (p.Lys1202Ter) c.3730A>T (p.Lys1244Ter) c.3019A>T (p.Lys1007Ter) c.3597+731A>T (n.3597+731A>T) c.3547+1270A>T (n.3547+1270A>T) c.2956A>T (p.Lys986Ter) c.2923A>T (p.Lys975Ter) c.3136A>T (p.Lys1046Ter) | |
X | g.53235052T>C | CA413141889 | IQSEC2 | c.3793A>G (p.Lys1265Glu) c.1453+731A>G c.962+731A>G c.316+1270A>G (n.316+1270A>G) c.514+1270A>G (n.514+1270A>G) c.*119A>G (n.*119A>G) c.3634A>G (p.Lys1212Glu) c.3604A>G (p.Lys1202Glu) c.3730A>G (p.Lys1244Glu) c.3019A>G (p.Lys1007Glu) c.3597+731A>G (n.3597+731A>G) c.3547+1270A>G (n.3547+1270A>G) c.2956A>G (p.Lys986Glu) c.2923A>G (p.Lys975Glu) c.3136A>G (p.Lys1046Glu) | |
X | g.53235052T>G | CA413141887 | IQSEC2 | c.3793A>C (p.Lys1265Gln) c.1453+731A>C c.962+731A>C c.316+1270A>C (n.316+1270A>C) c.514+1270A>C (n.514+1270A>C) c.*119A>C (n.*119A>C) c.3634A>C (p.Lys1212Gln) c.3604A>C (p.Lys1202Gln) c.3730A>C (p.Lys1244Gln) c.3019A>C (p.Lys1007Gln) c.3597+731A>C (n.3597+731A>C) c.3547+1270A>C (n.3547+1270A>C) c.2956A>C (p.Lys986Gln) c.2923A>C (p.Lys975Gln) c.3136A>C (p.Lys1046Gln) | |
X | g.53235053G>A | CA516673874 | IQSEC2 | c.3792C>T (p.Ser1264=) c.1453+730C>T c.962+730C>T c.316+1269C>T (n.316+1269C>T) c.514+1269C>T (n.514+1269C>T) c.*118C>T (n.*118C>T) c.3633C>T (p.Ser1211=) c.3603C>T (p.Ser1201=) c.3729C>T (p.Ser1243=) c.3018C>T (p.Ser1006=) c.3597+730C>T (n.3597+730C>T) c.3547+1269C>T (n.3547+1269C>T) c.2955C>T (p.Ser985=) c.2922C>T (p.Ser974=) c.3135C>T (p.Ser1045=) | |
X | g.53235053G>C | CA413141893 | IQSEC2 | c.3792C>G (p.Ser1264Arg) c.1453+730C>G c.962+730C>G c.316+1269C>G (n.316+1269C>G) c.514+1269C>G (n.514+1269C>G) c.*118C>G (n.*118C>G) c.3633C>G (p.Ser1211Arg) c.3603C>G (p.Ser1201Arg) c.3729C>G (p.Ser1243Arg) c.3018C>G (p.Ser1006Arg) c.3597+730C>G (n.3597+730C>G) c.3547+1269C>G (n.3547+1269C>G) c.2955C>G (p.Ser985Arg) c.2922C>G (p.Ser974Arg) c.3135C>G (p.Ser1045Arg) | |
X | g.53235053G>T | CA413141897 | IQSEC2 | c.3792C>A (p.Ser1264Arg) c.1453+730C>A c.962+730C>A c.316+1269C>A (n.316+1269C>A) c.514+1269C>A (n.514+1269C>A) c.*118C>A (n.*118C>A) c.3633C>A (p.Ser1211Arg) c.3603C>A (p.Ser1201Arg) c.3729C>A (p.Ser1243Arg) c.3018C>A (p.Ser1006Arg) c.3597+730C>A (n.3597+730C>A) c.3547+1269C>A (n.3547+1269C>A) c.2955C>A (p.Ser985Arg) c.2922C>A (p.Ser974Arg) c.3135C>A (p.Ser1045Arg) | |
X | g.53235054C>A | CA413141901 | IQSEC2 | c.3791G>T (p.Ser1264Ile) c.1453+729G>T c.962+729G>T c.316+1268G>T (n.316+1268G>T) c.514+1268G>T (n.514+1268G>T) c.*117G>T (n.*117G>T) c.3632G>T (p.Ser1211Ile) c.3602G>T (p.Ser1201Ile) c.3728G>T (p.Ser1243Ile) c.3017G>T (p.Ser1006Ile) c.3597+729G>T (n.3597+729G>T) c.3547+1268G>T (n.3547+1268G>T) c.2954G>T (p.Ser985Ile) c.2921G>T (p.Ser974Ile) c.3134G>T (p.Ser1045Ile) | |
X | g.53235054C>G | CA413141904 | IQSEC2 | c.3791G>C (p.Ser1264Thr) c.1453+729G>C c.962+729G>C c.316+1268G>C (n.316+1268G>C) c.514+1268G>C (n.514+1268G>C) c.*117G>C (n.*117G>C) c.3632G>C (p.Ser1211Thr) c.3602G>C (p.Ser1201Thr) c.3728G>C (p.Ser1243Thr) c.3017G>C (p.Ser1006Thr) c.3597+729G>C (n.3597+729G>C) c.3547+1268G>C (n.3547+1268G>C) c.2954G>C (p.Ser985Thr) c.2921G>C (p.Ser974Thr) c.3134G>C (p.Ser1045Thr) | |
X | g.53235054C>T | CA413141908 | IQSEC2 | c.3791G>A (p.Ser1264Asn) c.1453+729G>A c.962+729G>A c.316+1268G>A (n.316+1268G>A) c.514+1268G>A (n.514+1268G>A) c.*117G>A (n.*117G>A) c.3632G>A (p.Ser1211Asn) c.3602G>A (p.Ser1201Asn) c.3728G>A (p.Ser1243Asn) c.3017G>A (p.Ser1006Asn) c.3597+729G>A (n.3597+729G>A) c.3547+1268G>A (n.3547+1268G>A) c.2954G>A (p.Ser985Asn) c.2921G>A (p.Ser974Asn) c.3134G>A (p.Ser1045Asn) | |
X | g.53235055T>A | CA413141911 | IQSEC2 | c.3790A>T (p.Ser1264Cys) c.1453+728A>T c.962+728A>T c.316+1267A>T (n.316+1267A>T) c.514+1267A>T (n.514+1267A>T) c.*116A>T (n.*116A>T) c.3631A>T (p.Ser1211Cys) c.3601A>T (p.Ser1201Cys) c.3727A>T (p.Ser1243Cys) c.3016A>T (p.Ser1006Cys) c.3597+728A>T (n.3597+728A>T) c.3547+1267A>T (n.3547+1267A>T) c.2953A>T (p.Ser985Cys) c.2920A>T (p.Ser974Cys) c.3133A>T (p.Ser1045Cys) | |
X | g.53235055T>C | CA413141914 | IQSEC2 | c.3790A>G (p.Ser1264Gly) c.1453+728A>G c.962+728A>G c.316+1267A>G (n.316+1267A>G) c.514+1267A>G (n.514+1267A>G) c.*116A>G (n.*116A>G) c.3631A>G (p.Ser1211Gly) c.3601A>G (p.Ser1201Gly) c.3727A>G (p.Ser1243Gly) c.3016A>G (p.Ser1006Gly) c.3597+728A>G (n.3597+728A>G) c.3547+1267A>G (n.3547+1267A>G) c.2953A>G (p.Ser985Gly) c.2920A>G (p.Ser974Gly) c.3133A>G (p.Ser1045Gly) | gnomAD v3 gnomAD v4 |
X | g.53235055T>G | CA413141917 | IQSEC2 | c.3790A>C (p.Ser1264Arg) c.1453+728A>C c.962+728A>C c.316+1267A>C (n.316+1267A>C) c.514+1267A>C (n.514+1267A>C) c.*116A>C (n.*116A>C) c.3631A>C (p.Ser1211Arg) c.3601A>C (p.Ser1201Arg) c.3727A>C (p.Ser1243Arg) c.3016A>C (p.Ser1006Arg) c.3597+728A>C (n.3597+728A>C) c.3547+1267A>C (n.3547+1267A>C) c.2953A>C (p.Ser985Arg) c.2920A>C (p.Ser974Arg) c.3133A>C (p.Ser1045Arg) | |
X | g.53235056T>A | CA516673878 | IQSEC2 | c.3789A>T (p.Gly1263=) c.1453+727A>T c.962+727A>T c.316+1266A>T (n.316+1266A>T) c.514+1266A>T (n.514+1266A>T) c.*115A>T (n.*115A>T) c.3630A>T (p.Gly1210=) c.3600A>T (p.Gly1200=) c.3726A>T (p.Gly1242=) c.3015A>T (p.Gly1005=) c.3597+727A>T (n.3597+727A>T) c.3547+1266A>T (n.3547+1266A>T) c.2952A>T (p.Gly984=) c.2919A>T (p.Gly973=) c.3132A>T (p.Gly1044=) | |
X | g.53235056T>C | CA516673879 | IQSEC2 | c.3789A>G (p.Gly1263=) c.1453+727A>G c.962+727A>G c.316+1266A>G (n.316+1266A>G) c.514+1266A>G (n.514+1266A>G) c.*115A>G (n.*115A>G) c.3630A>G (p.Gly1210=) c.3600A>G (p.Gly1200=) c.3726A>G (p.Gly1242=) c.3015A>G (p.Gly1005=) c.3597+727A>G (n.3597+727A>G) c.3547+1266A>G (n.3547+1266A>G) c.2952A>G (p.Gly984=) c.2919A>G (p.Gly973=) c.3132A>G (p.Gly1044=) | |
X | g.53235056T>G | CA516673880 | IQSEC2 | c.3789A>C (p.Gly1263=) c.1453+727A>C c.962+727A>C c.316+1266A>C (n.316+1266A>C) c.514+1266A>C (n.514+1266A>C) c.*115A>C (n.*115A>C) c.3630A>C (p.Gly1210=) c.3600A>C (p.Gly1200=) c.3726A>C (p.Gly1242=) c.3015A>C (p.Gly1005=) c.3597+727A>C (n.3597+727A>C) c.3547+1266A>C (n.3547+1266A>C) c.2952A>C (p.Gly984=) c.2919A>C (p.Gly973=) c.3132A>C (p.Gly1044=) | |
X | g.53235057C>A | CA413141919 | IQSEC2 | c.3788G>T (p.Gly1263Val) c.1453+726G>T c.962+726G>T c.316+1265G>T (n.316+1265G>T) c.514+1265G>T (n.514+1265G>T) c.*114G>T (n.*114G>T) c.3629G>T (p.Gly1210Val) c.3599G>T (p.Gly1200Val) c.3725G>T (p.Gly1242Val) c.3014G>T (p.Gly1005Val) c.3597+726G>T (n.3597+726G>T) c.3547+1265G>T (n.3547+1265G>T) c.2951G>T (p.Gly984Val) c.2918G>T (p.Gly973Val) c.3131G>T (p.Gly1044Val) | |
X | g.53235057C>G | CA413141922 | IQSEC2 | c.3788G>C (p.Gly1263Ala) c.1453+726G>C c.962+726G>C c.316+1265G>C (n.316+1265G>C) c.514+1265G>C (n.514+1265G>C) c.*114G>C (n.*114G>C) c.3629G>C (p.Gly1210Ala) c.3599G>C (p.Gly1200Ala) c.3725G>C (p.Gly1242Ala) c.3014G>C (p.Gly1005Ala) c.3597+726G>C (n.3597+726G>C) c.3547+1265G>C (n.3547+1265G>C) c.2951G>C (p.Gly984Ala) c.2918G>C (p.Gly973Ala) c.3131G>C (p.Gly1044Ala) | |
X | g.53235057C>T | CA413141926 | IQSEC2 | c.3788G>A (p.Gly1263Glu) c.1453+726G>A c.962+726G>A c.316+1265G>A (n.316+1265G>A) c.514+1265G>A (n.514+1265G>A) c.*114G>A (n.*114G>A) c.3629G>A (p.Gly1210Glu) c.3599G>A (p.Gly1200Glu) c.3725G>A (p.Gly1242Glu) c.3014G>A (p.Gly1005Glu) c.3597+726G>A (n.3597+726G>A) c.3547+1265G>A (n.3547+1265G>A) c.2951G>A (p.Gly984Glu) c.2918G>A (p.Gly973Glu) c.3131G>A (p.Gly1044Glu) | |
X | g.53235058C>A | CA413141933 | IQSEC2 | c.3787G>T (p.Gly1263Ter) c.1453+725G>T c.962+725G>T c.316+1264G>T (n.316+1264G>T) c.514+1264G>T (n.514+1264G>T) c.*113G>T (n.*113G>T) c.3628G>T (p.Gly1210Ter) c.3598G>T (p.Gly1200Ter) c.3724G>T (p.Gly1242Ter) c.3013G>T (p.Gly1005Ter) c.3597+725G>T (n.3597+725G>T) c.3547+1264G>T (n.3547+1264G>T) c.2950G>T (p.Gly984Ter) c.2917G>T (p.Gly973Ter) c.3130G>T (p.Gly1044Ter) | |
X | g.53235058C>G | CA413141935 | IQSEC2 | c.3787G>C (p.Gly1263Arg) c.1453+725G>C c.962+725G>C c.316+1264G>C (n.316+1264G>C) c.514+1264G>C (n.514+1264G>C) c.*113G>C (n.*113G>C) c.3628G>C (p.Gly1210Arg) c.3598G>C (p.Gly1200Arg) c.3724G>C (p.Gly1242Arg) c.3013G>C (p.Gly1005Arg) c.3597+725G>C (n.3597+725G>C) c.3547+1264G>C (n.3547+1264G>C) c.2950G>C (p.Gly984Arg) c.2917G>C (p.Gly973Arg) c.3130G>C (p.Gly1044Arg) | |
X | g.53235058C>T | CA413141929 | IQSEC2 | c.3787G>A (p.Gly1263Arg) c.1453+725G>A c.962+725G>A c.316+1264G>A (n.316+1264G>A) c.514+1264G>A (n.514+1264G>A) c.*113G>A (n.*113G>A) c.3628G>A (p.Gly1210Arg) c.3598G>A (p.Gly1200Arg) c.3724G>A (p.Gly1242Arg) c.3013G>A (p.Gly1005Arg) c.3597+725G>A (n.3597+725G>A) c.3547+1264G>A (n.3547+1264G>A) c.2950G>A (p.Gly984Arg) c.2917G>A (p.Gly973Arg) c.3130G>A (p.Gly1044Arg) | |
X | g.53235059A>C | CA413141939 | IQSEC2 | c.3786T>G (p.Phe1262Leu) c.1453+724T>G c.962+724T>G c.316+1263T>G (n.316+1263T>G) c.514+1263T>G (n.514+1263T>G) c.*112T>G (n.*112T>G) c.3627T>G (p.Phe1209Leu) c.3597T>G (p.Phe1199Leu) c.3723T>G (p.Phe1241Leu) c.3012T>G (p.Phe1004Leu) c.3597+724T>G (n.3597+724T>G) c.3547+1263T>G (n.3547+1263T>G) c.2949T>G (p.Phe983Leu) c.2916T>G (p.Phe972Leu) c.3129T>G (p.Phe1043Leu) | |
X | g.53235059A>G | CA516673883 | IQSEC2 | c.3786T>C (p.Phe1262=) c.1453+724T>C c.962+724T>C c.316+1263T>C (n.316+1263T>C) c.514+1263T>C (n.514+1263T>C) c.*112T>C (n.*112T>C) c.3627T>C (p.Phe1209=) c.3597T>C (p.Phe1199=) c.3723T>C (p.Phe1241=) c.3012T>C (p.Phe1004=) c.3597+724T>C (n.3597+724T>C) c.3547+1263T>C (n.3547+1263T>C) c.2949T>C (p.Phe983=) c.2916T>C (p.Phe972=) c.3129T>C (p.Phe1043=) | |
X | g.53235059A>T | CA413141941 | IQSEC2 | c.3786T>A (p.Phe1262Leu) c.1453+724T>A c.962+724T>A c.316+1263T>A (n.316+1263T>A) c.514+1263T>A (n.514+1263T>A) c.*112T>A (n.*112T>A) c.3627T>A (p.Phe1209Leu) c.3597T>A (p.Phe1199Leu) c.3723T>A (p.Phe1241Leu) c.3012T>A (p.Phe1004Leu) c.3597+724T>A (n.3597+724T>A) c.3547+1263T>A (n.3547+1263T>A) c.2949T>A (p.Phe983Leu) c.2916T>A (p.Phe972Leu) c.3129T>A (p.Phe1043Leu) | |
X | g.53235060A>C | CA413141944 | IQSEC2 | c.3785T>G (p.Phe1262Cys) c.1453+723T>G c.962+723T>G c.316+1262T>G (n.316+1262T>G) c.514+1262T>G (n.514+1262T>G) c.*111T>G (n.*111T>G) c.3626T>G (p.Phe1209Cys) c.3596T>G (p.Phe1199Cys) c.3722T>G (p.Phe1241Cys) c.3011T>G (p.Phe1004Cys) c.3597+723T>G (n.3597+723T>G) c.3547+1262T>G (n.3547+1262T>G) c.2948T>G (p.Phe983Cys) c.2915T>G (p.Phe972Cys) c.3128T>G (p.Phe1043Cys) | |
X | g.53235060A>G | CA413141947 | IQSEC2 | c.3785T>C (p.Phe1262Ser) c.1453+723T>C c.962+723T>C c.316+1262T>C (n.316+1262T>C) c.514+1262T>C (n.514+1262T>C) c.*111T>C (n.*111T>C) c.3626T>C (p.Phe1209Ser) c.3596T>C (p.Phe1199Ser) c.3722T>C (p.Phe1241Ser) c.3011T>C (p.Phe1004Ser) c.3597+723T>C (n.3597+723T>C) c.3547+1262T>C (n.3547+1262T>C) c.2948T>C (p.Phe983Ser) c.2915T>C (p.Phe972Ser) c.3128T>C (p.Phe1043Ser) | |
X | g.53235060A>T | CA413141950 | IQSEC2 | c.3785T>A (p.Phe1262Tyr) c.1453+723T>A c.962+723T>A c.316+1262T>A (n.316+1262T>A) c.514+1262T>A (n.514+1262T>A) c.*111T>A (n.*111T>A) c.3626T>A (p.Phe1209Tyr) c.3596T>A (p.Phe1199Tyr) c.3722T>A (p.Phe1241Tyr) c.3011T>A (p.Phe1004Tyr) c.3597+723T>A (n.3597+723T>A) c.3547+1262T>A (n.3547+1262T>A) c.2948T>A (p.Phe983Tyr) c.2915T>A (p.Phe972Tyr) c.3128T>A (p.Phe1043Tyr) | |
X | g.53235061A>C | CA413141959 | IQSEC2 | c.3784T>G (p.Phe1262Val) c.1453+722T>G c.962+722T>G c.316+1261T>G (n.316+1261T>G) c.514+1261T>G (n.514+1261T>G) c.*110T>G (n.*110T>G) c.3625T>G (p.Phe1209Val) c.3595T>G (p.Phe1199Val) c.3721T>G (p.Phe1241Val) c.3010T>G (p.Phe1004Val) c.3597+722T>G (n.3597+722T>G) c.3547+1261T>G (n.3547+1261T>G) c.2947T>G (p.Phe983Val) c.2914T>G (p.Phe972Val) c.3127T>G (p.Phe1043Val) | |
X | g.53235061A>G | CA413141954 | IQSEC2 | c.3784T>C (p.Phe1262Leu) c.1453+722T>C c.962+722T>C c.316+1261T>C (n.316+1261T>C) c.514+1261T>C (n.514+1261T>C) c.*110T>C (n.*110T>C) c.3625T>C (p.Phe1209Leu) c.3595T>C (p.Phe1199Leu) c.3721T>C (p.Phe1241Leu) c.3010T>C (p.Phe1004Leu) c.3597+722T>C (n.3597+722T>C) c.3547+1261T>C (n.3547+1261T>C) c.2947T>C (p.Phe983Leu) c.2914T>C (p.Phe972Leu) c.3127T>C (p.Phe1043Leu) | |
X | g.53235061A>T | CA413141956 | IQSEC2 | c.3784T>A (p.Phe1262Ile) c.1453+722T>A c.962+722T>A c.316+1261T>A (n.316+1261T>A) c.514+1261T>A (n.514+1261T>A) c.*110T>A (n.*110T>A) c.3625T>A (p.Phe1209Ile) c.3595T>A (p.Phe1199Ile) c.3721T>A (p.Phe1241Ile) c.3010T>A (p.Phe1004Ile) c.3597+722T>A (n.3597+722T>A) c.3547+1261T>A (n.3547+1261T>A) c.2947T>A (p.Phe983Ile) c.2914T>A (p.Phe972Ile) c.3127T>A (p.Phe1043Ile) | |
X | g.53235062T>A | CA516673889 | IQSEC2 | c.3783A>T (p.Leu1261=) c.1453+721A>T c.962+721A>T c.316+1260A>T (n.316+1260A>T) c.514+1260A>T (n.514+1260A>T) c.*109A>T (n.*109A>T) c.3624A>T (p.Leu1208=) c.3594A>T (p.Leu1198=) c.3720A>T (p.Leu1240=) c.3009A>T (p.Leu1003=) c.3597+721A>T (n.3597+721A>T) c.3547+1260A>T (n.3547+1260A>T) c.2946A>T (p.Leu982=) c.2913A>T (p.Leu971=) c.3126A>T (p.Leu1042=) | |
X | g.53235062T>C | CA516673890 | IQSEC2 | c.3783A>G (p.Leu1261=) c.1453+721A>G c.962+721A>G c.316+1260A>G (n.316+1260A>G) c.514+1260A>G (n.514+1260A>G) c.*109A>G (n.*109A>G) c.3624A>G (p.Leu1208=) c.3594A>G (p.Leu1198=) c.3720A>G (p.Leu1240=) c.3009A>G (p.Leu1003=) c.3597+721A>G (n.3597+721A>G) c.3547+1260A>G (n.3547+1260A>G) c.2946A>G (p.Leu982=) c.2913A>G (p.Leu971=) c.3126A>G (p.Leu1042=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.53235062T>G | CA516673891 | IQSEC2 | c.3783A>C (p.Leu1261=) c.1453+721A>C c.962+721A>C c.316+1260A>C (n.316+1260A>C) c.514+1260A>C (n.514+1260A>C) c.*109A>C (n.*109A>C) c.3624A>C (p.Leu1208=) c.3594A>C (p.Leu1198=) c.3720A>C (p.Leu1240=) c.3009A>C (p.Leu1003=) c.3597+721A>C (n.3597+721A>C) c.3547+1260A>C (n.3547+1260A>C) c.2946A>C (p.Leu982=) c.2913A>C (p.Leu971=) c.3126A>C (p.Leu1042=) | |
X | g.53235062T= | CA2429770683 | IQSEC2 | c.3783A= (p.Leu1261=) c.1453+721A= c.962+721A= c.316+1260A= (n.316+1260A=) c.514+1260A= (n.514+1260A=) c.*109A= (n.*109A=) c.3624A= (p.Leu1208=) c.3594A= (p.Leu1198=) c.3720A= (p.Leu1240=) c.3009A= (p.Leu1003=) c.3597+721A= (n.3597+721A=) c.3547+1260A= (n.3547+1260A=) c.2946A= (p.Leu982=) c.2913A= (p.Leu971=) c.3126A= (p.Leu1042=) | |
X | g.53235063A>C | CA413141963 | IQSEC2 | c.3782T>G (p.Leu1261Arg) c.1453+720T>G c.962+720T>G c.316+1259T>G (n.316+1259T>G) c.514+1259T>G (n.514+1259T>G) c.*108T>G (n.*108T>G) c.3623T>G (p.Leu1208Arg) c.3593T>G (p.Leu1198Arg) c.3719T>G (p.Leu1240Arg) c.3008T>G (p.Leu1003Arg) c.3597+720T>G (n.3597+720T>G) c.3547+1259T>G (n.3547+1259T>G) c.2945T>G (p.Leu982Arg) c.2912T>G (p.Leu971Arg) c.3125T>G (p.Leu1042Arg) | |
X | g.53235063A>G | CA413141965 | IQSEC2 | c.3782T>C (p.Leu1261Pro) c.1453+720T>C c.962+720T>C c.316+1259T>C (n.316+1259T>C) c.514+1259T>C (n.514+1259T>C) c.*108T>C (n.*108T>C) c.3623T>C (p.Leu1208Pro) c.3593T>C (p.Leu1198Pro) c.3719T>C (p.Leu1240Pro) c.3008T>C (p.Leu1003Pro) c.3597+720T>C (n.3597+720T>C) c.3547+1259T>C (n.3547+1259T>C) c.2945T>C (p.Leu982Pro) c.2912T>C (p.Leu971Pro) c.3125T>C (p.Leu1042Pro) | |
X | g.53235063A>T | CA413141967 | IQSEC2 | c.3782T>A (p.Leu1261Gln) c.1453+720T>A c.962+720T>A c.316+1259T>A (n.316+1259T>A) c.514+1259T>A (n.514+1259T>A) c.*108T>A (n.*108T>A) c.3623T>A (p.Leu1208Gln) c.3593T>A (p.Leu1198Gln) c.3719T>A (p.Leu1240Gln) c.3008T>A (p.Leu1003Gln) c.3597+720T>A (n.3597+720T>A) c.3547+1259T>A (n.3547+1259T>A) c.2945T>A (p.Leu982Gln) c.2912T>A (p.Leu971Gln) c.3125T>A (p.Leu1042Gln) | |
X | g.53235064G>A | CA516673896 | IQSEC2 | c.3781C>T (p.Leu1261=) c.1453+719C>T c.962+719C>T c.316+1258C>T (n.316+1258C>T) c.514+1258C>T (n.514+1258C>T) c.*107C>T (n.*107C>T) c.3622C>T (p.Leu1208=) c.3592C>T (p.Leu1198=) c.3718C>T (p.Leu1240=) c.3007C>T (p.Leu1003=) c.3597+719C>T (n.3597+719C>T) c.3547+1258C>T (n.3547+1258C>T) c.2944C>T (p.Leu982=) c.2911C>T (p.Leu971=) c.3124C>T (p.Leu1042=) | gnomAD v4 |
X | g.53235064G>C | CA413141973 | IQSEC2 | c.3781C>G (p.Leu1261Val) c.1453+719C>G c.962+719C>G c.316+1258C>G (n.316+1258C>G) c.514+1258C>G (n.514+1258C>G) c.*107C>G (n.*107C>G) c.3622C>G (p.Leu1208Val) c.3592C>G (p.Leu1198Val) c.3718C>G (p.Leu1240Val) c.3007C>G (p.Leu1003Val) c.3597+719C>G (n.3597+719C>G) c.3547+1258C>G (n.3547+1258C>G) c.2944C>G (p.Leu982Val) c.2911C>G (p.Leu971Val) c.3124C>G (p.Leu1042Val) | |
X | g.53235064G>T | CA413141986 | IQSEC2 | c.3781C>A (p.Leu1261Ile) c.1453+719C>A c.962+719C>A c.316+1258C>A (n.316+1258C>A) c.514+1258C>A (n.514+1258C>A) c.*107C>A (n.*107C>A) c.3622C>A (p.Leu1208Ile) c.3592C>A (p.Leu1198Ile) c.3718C>A (p.Leu1240Ile) c.3007C>A (p.Leu1003Ile) c.3597+719C>A (n.3597+719C>A) c.3547+1258C>A (n.3547+1258C>A) c.2944C>A (p.Leu982Ile) c.2911C>A (p.Leu971Ile) c.3124C>A (p.Leu1042Ile) | |
X | g.53235065G>A | CA516673897 | IQSEC2 | c.3780C>T (p.Ser1260=) c.1453+718C>T c.962+718C>T c.316+1257C>T (n.316+1257C>T) c.514+1257C>T (n.514+1257C>T) c.*106C>T (n.*106C>T) c.3621C>T (p.Ser1207=) c.3591C>T (p.Ser1197=) c.3717C>T (p.Ser1239=) c.3006C>T (p.Ser1002=) c.3597+718C>T (n.3597+718C>T) c.3547+1257C>T (n.3547+1257C>T) c.2943C>T (p.Ser981=) c.2910C>T (p.Ser970=) c.3123C>T (p.Ser1041=) | ClinVar gnomAD v4 |
X | g.53235065G>C | CA516673898 | IQSEC2 | c.3780C>G (p.Ser1260=) c.1453+718C>G c.962+718C>G c.316+1257C>G (n.316+1257C>G) c.514+1257C>G (n.514+1257C>G) c.*106C>G (n.*106C>G) c.3621C>G (p.Ser1207=) c.3591C>G (p.Ser1197=) c.3717C>G (p.Ser1239=) c.3006C>G (p.Ser1002=) c.3597+718C>G (n.3597+718C>G) c.3547+1257C>G (n.3547+1257C>G) c.2943C>G (p.Ser981=) c.2910C>G (p.Ser970=) c.3123C>G (p.Ser1041=) | |
X | g.53235065G>T | CA516673899 | IQSEC2 | c.3780C>A (p.Ser1260=) c.1453+718C>A c.962+718C>A c.316+1257C>A (n.316+1257C>A) c.514+1257C>A (n.514+1257C>A) c.*106C>A (n.*106C>A) c.3621C>A (p.Ser1207=) c.3591C>A (p.Ser1197=) c.3717C>A (p.Ser1239=) c.3006C>A (p.Ser1002=) c.3597+718C>A (n.3597+718C>A) c.3547+1257C>A (n.3547+1257C>A) c.2943C>A (p.Ser981=) c.2910C>A (p.Ser970=) c.3123C>A (p.Ser1041=) | |
X | g.53235066G>A | CA413141991 | IQSEC2 | c.3779C>T (p.Ser1260Phe) c.1453+717C>T c.962+717C>T c.316+1256C>T (n.316+1256C>T) c.514+1256C>T (n.514+1256C>T) c.*105C>T (n.*105C>T) c.3620C>T (p.Ser1207Phe) c.3590C>T (p.Ser1197Phe) c.3716C>T (p.Ser1239Phe) c.3005C>T (p.Ser1002Phe) c.3597+717C>T (n.3597+717C>T) c.3547+1256C>T (n.3547+1256C>T) c.2942C>T (p.Ser981Phe) c.2909C>T (p.Ser970Phe) c.3122C>T (p.Ser1041Phe) | |
X | g.53235066G>C | CA413141997 | IQSEC2 | c.3779C>G (p.Ser1260Cys) c.1453+717C>G c.962+717C>G c.316+1256C>G (n.316+1256C>G) c.514+1256C>G (n.514+1256C>G) c.*105C>G (n.*105C>G) c.3620C>G (p.Ser1207Cys) c.3590C>G (p.Ser1197Cys) c.3716C>G (p.Ser1239Cys) c.3005C>G (p.Ser1002Cys) c.3597+717C>G (n.3597+717C>G) c.3547+1256C>G (n.3547+1256C>G) c.2942C>G (p.Ser981Cys) c.2909C>G (p.Ser970Cys) c.3122C>G (p.Ser1041Cys) | |
X | g.53235066G>T | CA413141994 | IQSEC2 | c.3779C>A (p.Ser1260Tyr) c.1453+717C>A c.962+717C>A c.316+1256C>A (n.316+1256C>A) c.514+1256C>A (n.514+1256C>A) c.*105C>A (n.*105C>A) c.3620C>A (p.Ser1207Tyr) c.3590C>A (p.Ser1197Tyr) c.3716C>A (p.Ser1239Tyr) c.3005C>A (p.Ser1002Tyr) c.3597+717C>A (n.3597+717C>A) c.3547+1256C>A (n.3547+1256C>A) c.2942C>A (p.Ser981Tyr) c.2909C>A (p.Ser970Tyr) c.3122C>A (p.Ser1041Tyr) | |
X | g.53235067A>C | CA413142001 | IQSEC2 | c.3778T>G (p.Ser1260Ala) c.1453+716T>G c.962+716T>G c.316+1255T>G (n.316+1255T>G) c.514+1255T>G (n.514+1255T>G) c.*104T>G (n.*104T>G) c.3619T>G (p.Ser1207Ala) c.3589T>G (p.Ser1197Ala) c.3715T>G (p.Ser1239Ala) c.3004T>G (p.Ser1002Ala) c.3597+716T>G (n.3597+716T>G) c.3547+1255T>G (n.3547+1255T>G) c.2941T>G (p.Ser981Ala) c.2908T>G (p.Ser970Ala) c.3121T>G (p.Ser1041Ala) | |
X | g.53235067A>G | CA413142004 | IQSEC2 | c.3778T>C (p.Ser1260Pro) c.1453+716T>C c.962+716T>C c.316+1255T>C (n.316+1255T>C) c.514+1255T>C (n.514+1255T>C) c.*104T>C (n.*104T>C) c.3619T>C (p.Ser1207Pro) c.3589T>C (p.Ser1197Pro) c.3715T>C (p.Ser1239Pro) c.3004T>C (p.Ser1002Pro) c.3597+716T>C (n.3597+716T>C) c.3547+1255T>C (n.3547+1255T>C) c.2941T>C (p.Ser981Pro) c.2908T>C (p.Ser970Pro) c.3121T>C (p.Ser1041Pro) | |
X | g.53235067A>T | CA413142007 | IQSEC2 | c.3778T>A (p.Ser1260Thr) c.1453+716T>A c.962+716T>A c.316+1255T>A (n.316+1255T>A) c.514+1255T>A (n.514+1255T>A) c.*104T>A (n.*104T>A) c.3619T>A (p.Ser1207Thr) c.3589T>A (p.Ser1197Thr) c.3715T>A (p.Ser1239Thr) c.3004T>A (p.Ser1002Thr) c.3597+716T>A (n.3597+716T>A) c.3547+1255T>A (n.3547+1255T>A) c.2941T>A (p.Ser981Thr) c.2908T>A (p.Ser970Thr) c.3121T>A (p.Ser1041Thr) | |
X | g.53235068G>A | CA516673904 | IQSEC2 | c.3777C>T (p.Gly1259=) c.1453+715C>T c.962+715C>T c.316+1254C>T (n.316+1254C>T) c.514+1254C>T (n.514+1254C>T) c.*103C>T (n.*103C>T) c.3618C>T (p.Gly1206=) c.3588C>T (p.Gly1196=) c.3714C>T (p.Gly1238=) c.3003C>T (p.Gly1001=) c.3597+715C>T (n.3597+715C>T) c.3547+1254C>T (n.3547+1254C>T) c.2940C>T (p.Gly980=) c.2907C>T (p.Gly969=) c.3120C>T (p.Gly1040=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235068G>C | CA516673905 | IQSEC2 | c.3777C>G (p.Gly1259=) c.1453+715C>G c.962+715C>G c.316+1254C>G (n.316+1254C>G) c.514+1254C>G (n.514+1254C>G) c.*103C>G (n.*103C>G) c.3618C>G (p.Gly1206=) c.3588C>G (p.Gly1196=) c.3714C>G (p.Gly1238=) c.3003C>G (p.Gly1001=) c.3597+715C>G (n.3597+715C>G) c.3547+1254C>G (n.3547+1254C>G) c.2940C>G (p.Gly980=) c.2907C>G (p.Gly969=) c.3120C>G (p.Gly1040=) | |
X | g.53235068G= | CA2429770684 | IQSEC2 | c.3777C= (p.Gly1259=) c.1453+715C= c.962+715C= c.316+1254C= (n.316+1254C=) c.514+1254C= (n.514+1254C=) c.*103C= (n.*103C=) c.3618C= (p.Gly1206=) c.3588C= (p.Gly1196=) c.3714C= (p.Gly1238=) c.3003C= (p.Gly1001=) c.3597+715C= (n.3597+715C=) c.3547+1254C= (n.3547+1254C=) c.2940C= (p.Gly980=) c.2907C= (p.Gly969=) c.3120C= (p.Gly1040=) | |
X | g.53235068G>T | CA516673906 | IQSEC2 | c.3777C>A (p.Gly1259=) c.1453+715C>A c.962+715C>A c.316+1254C>A (n.316+1254C>A) c.514+1254C>A (n.514+1254C>A) c.*103C>A (n.*103C>A) c.3618C>A (p.Gly1206=) c.3588C>A (p.Gly1196=) c.3714C>A (p.Gly1238=) c.3003C>A (p.Gly1001=) c.3597+715C>A (n.3597+715C>A) c.3547+1254C>A (n.3547+1254C>A) c.2940C>A (p.Gly980=) c.2907C>A (p.Gly969=) c.3120C>A (p.Gly1040=) | gnomAD v4 |
X | g.53235069C>A | CA413142012 | IQSEC2 | c.3776G>T (p.Gly1259Val) c.1453+714G>T c.962+714G>T c.316+1253G>T (n.316+1253G>T) c.514+1253G>T (n.514+1253G>T) c.*102G>T (n.*102G>T) c.3617G>T (p.Gly1206Val) c.3587G>T (p.Gly1196Val) c.3713G>T (p.Gly1238Val) c.3002G>T (p.Gly1001Val) c.3597+714G>T (n.3597+714G>T) c.3547+1253G>T (n.3547+1253G>T) c.2939G>T (p.Gly980Val) c.2906G>T (p.Gly969Val) c.3119G>T (p.Gly1040Val) | gnomAD v4 |
X | g.53235069C= | CA2429770685 | IQSEC2 | c.3776G= (p.Gly1259=) c.1453+714G= c.962+714G= c.316+1253G= (n.316+1253G=) c.514+1253G= (n.514+1253G=) c.*102G= (n.*102G=) c.3617G= (p.Gly1206=) c.3587G= (p.Gly1196=) c.3713G= (p.Gly1238=) c.3002G= (p.Gly1001=) c.3597+714G= (n.3597+714G=) c.3547+1253G= (n.3547+1253G=) c.2939G= (p.Gly980=) c.2906G= (p.Gly969=) c.3119G= (p.Gly1040=) | |
X | g.53235069C>G | CA209619 | IQSEC2 | c.3776G>C (p.Gly1259Ala) c.1453+714G>C c.962+714G>C c.316+1253G>C (n.316+1253G>C) c.514+1253G>C (n.514+1253G>C) c.*102G>C (n.*102G>C) c.3617G>C (p.Gly1206Ala) c.3587G>C (p.Gly1196Ala) c.3713G>C (p.Gly1238Ala) c.3002G>C (p.Gly1001Ala) c.3597+714G>C (n.3597+714G>C) c.3547+1253G>C (n.3547+1253G>C) c.2939G>C (p.Gly980Ala) c.2906G>C (p.Gly969Ala) c.3119G>C (p.Gly1040Ala) | ClinVar dbSNP gnomAD v4 |
X | g.53235069C>T | CA413142019 | IQSEC2 | c.3776G>A (p.Gly1259Asp) c.1453+714G>A c.962+714G>A c.316+1253G>A (n.316+1253G>A) c.514+1253G>A (n.514+1253G>A) c.*102G>A (n.*102G>A) c.3617G>A (p.Gly1206Asp) c.3587G>A (p.Gly1196Asp) c.3713G>A (p.Gly1238Asp) c.3002G>A (p.Gly1001Asp) c.3597+714G>A (n.3597+714G>A) c.3547+1253G>A (n.3547+1253G>A) c.2939G>A (p.Gly980Asp) c.2906G>A (p.Gly969Asp) c.3119G>A (p.Gly1040Asp) | |
X | g.53235070C>A | CA413142024 | IQSEC2 | c.3775G>T (p.Gly1259Cys) c.1453+713G>T c.962+713G>T c.316+1252G>T (n.316+1252G>T) c.514+1252G>T (n.514+1252G>T) c.*101G>T (n.*101G>T) c.3616G>T (p.Gly1206Cys) c.3586G>T (p.Gly1196Cys) c.3712G>T (p.Gly1238Cys) c.3001G>T (p.Gly1001Cys) c.3597+713G>T (n.3597+713G>T) c.3547+1252G>T (n.3547+1252G>T) c.2938G>T (p.Gly980Cys) c.2905G>T (p.Gly969Cys) c.3118G>T (p.Gly1040Cys) | |
X | g.53235070C>G | CA413142028 | IQSEC2 | c.3775G>C (p.Gly1259Arg) c.1453+713G>C c.962+713G>C c.316+1252G>C (n.316+1252G>C) c.514+1252G>C (n.514+1252G>C) c.*101G>C (n.*101G>C) c.3616G>C (p.Gly1206Arg) c.3586G>C (p.Gly1196Arg) c.3712G>C (p.Gly1238Arg) c.3001G>C (p.Gly1001Arg) c.3597+713G>C (n.3597+713G>C) c.3547+1252G>C (n.3547+1252G>C) c.2938G>C (p.Gly980Arg) c.2905G>C (p.Gly969Arg) c.3118G>C (p.Gly1040Arg) | |
X | g.53235070C>T | CA413142030 | IQSEC2 | c.3775G>A (p.Gly1259Ser) c.1453+713G>A c.962+713G>A c.316+1252G>A (n.316+1252G>A) c.514+1252G>A (n.514+1252G>A) c.*101G>A (n.*101G>A) c.3616G>A (p.Gly1206Ser) c.3586G>A (p.Gly1196Ser) c.3712G>A (p.Gly1238Ser) c.3001G>A (p.Gly1001Ser) c.3597+713G>A (n.3597+713G>A) c.3547+1252G>A (n.3547+1252G>A) c.2938G>A (p.Gly980Ser) c.2905G>A (p.Gly969Ser) c.3118G>A (p.Gly1040Ser) | |
X | g.53235071C>A | CA516673908 | IQSEC2 | c.3774G>T (p.Leu1258=) c.1453+712G>T c.962+712G>T c.316+1251G>T (n.316+1251G>T) c.514+1251G>T (n.514+1251G>T) c.*100G>T (n.*100G>T) c.3615G>T (p.Leu1205=) c.3585G>T (p.Leu1195=) c.3711G>T (p.Leu1237=) c.3000G>T (p.Leu1000=) c.3597+712G>T (n.3597+712G>T) c.3547+1251G>T (n.3547+1251G>T) c.2937G>T (p.Leu979=) c.2904G>T (p.Leu968=) c.3117G>T (p.Leu1039=) | gnomAD v4 |
X | g.53235071C>G | CA516673909 | IQSEC2 | c.3774G>C (p.Leu1258=) c.1453+712G>C c.962+712G>C c.316+1251G>C (n.316+1251G>C) c.514+1251G>C (n.514+1251G>C) c.*100G>C (n.*100G>C) c.3615G>C (p.Leu1205=) c.3585G>C (p.Leu1195=) c.3711G>C (p.Leu1237=) c.3000G>C (p.Leu1000=) c.3597+712G>C (n.3597+712G>C) c.3547+1251G>C (n.3547+1251G>C) c.2937G>C (p.Leu979=) c.2904G>C (p.Leu968=) c.3117G>C (p.Leu1039=) | |
X | g.53235071C>T | CA516673910 | IQSEC2 | c.3774G>A (p.Leu1258=) c.1453+712G>A c.962+712G>A c.316+1251G>A (n.316+1251G>A) c.514+1251G>A (n.514+1251G>A) c.*100G>A (n.*100G>A) c.3615G>A (p.Leu1205=) c.3585G>A (p.Leu1195=) c.3711G>A (p.Leu1237=) c.3000G>A (p.Leu1000=) c.3597+712G>A (n.3597+712G>A) c.3547+1251G>A (n.3547+1251G>A) c.2937G>A (p.Leu979=) c.2904G>A (p.Leu968=) c.3117G>A (p.Leu1039=) | |
X | g.53235072A>C | CA413142034 | IQSEC2 | c.3773T>G (p.Leu1258Arg) c.1453+711T>G c.962+711T>G c.316+1250T>G (n.316+1250T>G) c.514+1250T>G (n.514+1250T>G) c.*99T>G (n.*99T>G) c.3614T>G (p.Leu1205Arg) c.3584T>G (p.Leu1195Arg) c.3710T>G (p.Leu1237Arg) c.2999T>G (p.Leu1000Arg) c.3597+711T>G (n.3597+711T>G) c.3547+1250T>G (n.3547+1250T>G) c.2936T>G (p.Leu979Arg) c.2903T>G (p.Leu968Arg) c.3116T>G (p.Leu1039Arg) | |
X | g.53235072A>G | CA413142038 | IQSEC2 | c.3773T>C (p.Leu1258Pro) c.1453+711T>C c.962+711T>C c.316+1250T>C (n.316+1250T>C) c.514+1250T>C (n.514+1250T>C) c.*99T>C (n.*99T>C) c.3614T>C (p.Leu1205Pro) c.3584T>C (p.Leu1195Pro) c.3710T>C (p.Leu1237Pro) c.2999T>C (p.Leu1000Pro) c.3597+711T>C (n.3597+711T>C) c.3547+1250T>C (n.3547+1250T>C) c.2936T>C (p.Leu979Pro) c.2903T>C (p.Leu968Pro) c.3116T>C (p.Leu1039Pro) | |
X | g.53235072A>T | CA413142041 | IQSEC2 | c.3773T>A (p.Leu1258Gln) c.1453+711T>A c.962+711T>A c.316+1250T>A (n.316+1250T>A) c.514+1250T>A (n.514+1250T>A) c.*99T>A (n.*99T>A) c.3614T>A (p.Leu1205Gln) c.3584T>A (p.Leu1195Gln) c.3710T>A (p.Leu1237Gln) c.2999T>A (p.Leu1000Gln) c.3597+711T>A (n.3597+711T>A) c.3547+1250T>A (n.3547+1250T>A) c.2936T>A (p.Leu979Gln) c.2903T>A (p.Leu968Gln) c.3116T>A (p.Leu1039Gln) | |
X | g.53235073G>A | CA516673913 | IQSEC2 | c.3772C>T (p.Leu1258=) c.1453+710C>T c.962+710C>T c.316+1249C>T (n.316+1249C>T) c.514+1249C>T (n.514+1249C>T) c.*98C>T (n.*98C>T) c.3613C>T (p.Leu1205=) c.3583C>T (p.Leu1195=) c.3709C>T (p.Leu1237=) c.2998C>T (p.Leu1000=) c.3597+710C>T (n.3597+710C>T) c.3547+1249C>T (n.3547+1249C>T) c.2935C>T (p.Leu979=) c.2902C>T (p.Leu968=) c.3115C>T (p.Leu1039=) | |
X | g.53235073G>C | CA413142045 | IQSEC2 | c.3772C>G (p.Leu1258Val) c.1453+710C>G c.962+710C>G c.316+1249C>G (n.316+1249C>G) c.514+1249C>G (n.514+1249C>G) c.*98C>G (n.*98C>G) c.3613C>G (p.Leu1205Val) c.3583C>G (p.Leu1195Val) c.3709C>G (p.Leu1237Val) c.2998C>G (p.Leu1000Val) c.3597+710C>G (n.3597+710C>G) c.3547+1249C>G (n.3547+1249C>G) c.2935C>G (p.Leu979Val) c.2902C>G (p.Leu968Val) c.3115C>G (p.Leu1039Val) | |
X | g.53235073G>T | CA413142048 | IQSEC2 | c.3772C>A (p.Leu1258Met) c.1453+710C>A c.962+710C>A c.316+1249C>A (n.316+1249C>A) c.514+1249C>A (n.514+1249C>A) c.*98C>A (n.*98C>A) c.3613C>A (p.Leu1205Met) c.3583C>A (p.Leu1195Met) c.3709C>A (p.Leu1237Met) c.2998C>A (p.Leu1000Met) c.3597+710C>A (n.3597+710C>A) c.3547+1249C>A (n.3547+1249C>A) c.2935C>A (p.Leu979Met) c.2902C>A (p.Leu968Met) c.3115C>A (p.Leu1039Met) | |
X | g.53235074del | CA2580101218 | IQSEC2 | c.3772del (p.Leu1258TrpfsTer?) c.1453+710del c.962+710del c.316+1249del (n.316+1249del) c.514+1249del (n.514+1249del) c.*98del (n.*98del) c.3613del (p.Leu1205TrpfsTer?) c.3583del (p.Leu1195TrpfsTer?) c.3709del (p.Leu1237TrpfsTer?) c.2998del (p.Leu1000TrpfsTer?) c.3597+710del (n.3597+710del) c.3547+1249del (n.3547+1249del) c.2935del (p.Leu979TrpfsTer?) c.2902del (p.Leu968TrpfsTer?) c.3115del (p.Leu1039TrpfsTer?) | ClinVar |
X | g.53235074G>A | CA516673916 | IQSEC2 | c.3771C>T (p.Phe1257=) c.1453+709C>T c.962+709C>T c.316+1248C>T (n.316+1248C>T) c.514+1248C>T (n.514+1248C>T) c.*97C>T (n.*97C>T) c.3612C>T (p.Phe1204=) c.3582C>T (p.Phe1194=) c.3708C>T (p.Phe1236=) c.2997C>T (p.Phe999=) c.3597+709C>T (n.3597+709C>T) c.3547+1248C>T (n.3547+1248C>T) c.2934C>T (p.Phe978=) c.2901C>T (p.Phe967=) c.3114C>T (p.Phe1038=) | gnomAD v4 |
X | g.53235074G>C | CA413142051 | IQSEC2 | c.3771C>G (p.Phe1257Leu) c.1453+709C>G c.962+709C>G c.316+1248C>G (n.316+1248C>G) c.514+1248C>G (n.514+1248C>G) c.*97C>G (n.*97C>G) c.3612C>G (p.Phe1204Leu) c.3582C>G (p.Phe1194Leu) c.3708C>G (p.Phe1236Leu) c.2997C>G (p.Phe999Leu) c.3597+709C>G (n.3597+709C>G) c.3547+1248C>G (n.3547+1248C>G) c.2934C>G (p.Phe978Leu) c.2901C>G (p.Phe967Leu) c.3114C>G (p.Phe1038Leu) | |
X | g.53235074G>T | CA413142054 | IQSEC2 | c.3771C>A (p.Phe1257Leu) c.1453+709C>A c.962+709C>A c.316+1248C>A (n.316+1248C>A) c.514+1248C>A (n.514+1248C>A) c.*97C>A (n.*97C>A) c.3612C>A (p.Phe1204Leu) c.3582C>A (p.Phe1194Leu) c.3708C>A (p.Phe1236Leu) c.2997C>A (p.Phe999Leu) c.3597+709C>A (n.3597+709C>A) c.3547+1248C>A (n.3547+1248C>A) c.2934C>A (p.Phe978Leu) c.2901C>A (p.Phe967Leu) c.3114C>A (p.Phe1038Leu) | |
X | g.53235075A>C | CA413142058 | IQSEC2 | c.3770T>G (p.Phe1257Cys) c.1453+708T>G c.962+708T>G c.316+1247T>G (n.316+1247T>G) c.514+1247T>G (n.514+1247T>G) c.*96T>G (n.*96T>G) c.3611T>G (p.Phe1204Cys) c.3581T>G (p.Phe1194Cys) c.3707T>G (p.Phe1236Cys) c.2996T>G (p.Phe999Cys) c.3597+708T>G (n.3597+708T>G) c.3547+1247T>G (n.3547+1247T>G) c.2933T>G (p.Phe978Cys) c.2900T>G (p.Phe967Cys) c.3113T>G (p.Phe1038Cys) | |
X | g.53235075A>G | CA413142061 | IQSEC2 | c.3770T>C (p.Phe1257Ser) c.1453+708T>C c.962+708T>C c.316+1247T>C (n.316+1247T>C) c.514+1247T>C (n.514+1247T>C) c.*96T>C (n.*96T>C) c.3611T>C (p.Phe1204Ser) c.3581T>C (p.Phe1194Ser) c.3707T>C (p.Phe1236Ser) c.2996T>C (p.Phe999Ser) c.3597+708T>C (n.3597+708T>C) c.3547+1247T>C (n.3547+1247T>C) c.2933T>C (p.Phe978Ser) c.2900T>C (p.Phe967Ser) c.3113T>C (p.Phe1038Ser) | |
X | g.53235075A>T | CA413142064 | IQSEC2 | c.3770T>A (p.Phe1257Tyr) c.1453+708T>A c.962+708T>A c.316+1247T>A (n.316+1247T>A) c.514+1247T>A (n.514+1247T>A) c.*96T>A (n.*96T>A) c.3611T>A (p.Phe1204Tyr) c.3581T>A (p.Phe1194Tyr) c.3707T>A (p.Phe1236Tyr) c.2996T>A (p.Phe999Tyr) c.3597+708T>A (n.3597+708T>A) c.3547+1247T>A (n.3547+1247T>A) c.2933T>A (p.Phe978Tyr) c.2900T>A (p.Phe967Tyr) c.3113T>A (p.Phe1038Tyr) | |
X | g.53235076A>C | CA413142068 | IQSEC2 | c.3769T>G (p.Phe1257Val) c.1453+707T>G c.962+707T>G c.316+1246T>G (n.316+1246T>G) c.514+1246T>G (n.514+1246T>G) c.*95T>G (n.*95T>G) c.3610T>G (p.Phe1204Val) c.3580T>G (p.Phe1194Val) c.3706T>G (p.Phe1236Val) c.2995T>G (p.Phe999Val) c.3597+707T>G (n.3597+707T>G) c.3547+1246T>G (n.3547+1246T>G) c.2932T>G (p.Phe978Val) c.2899T>G (p.Phe967Val) c.3112T>G (p.Phe1038Val) | |
X | g.53235076A>G | CA413142072 | IQSEC2 | c.3769T>C (p.Phe1257Leu) c.1453+707T>C c.962+707T>C c.316+1246T>C (n.316+1246T>C) c.514+1246T>C (n.514+1246T>C) c.*95T>C (n.*95T>C) c.3610T>C (p.Phe1204Leu) c.3580T>C (p.Phe1194Leu) c.3706T>C (p.Phe1236Leu) c.2995T>C (p.Phe999Leu) c.3597+707T>C (n.3597+707T>C) c.3547+1246T>C (n.3547+1246T>C) c.2932T>C (p.Phe978Leu) c.2899T>C (p.Phe967Leu) c.3112T>C (p.Phe1038Leu) | |
X | g.53235076A>T | CA413142076 | IQSEC2 | c.3769T>A (p.Phe1257Ile) c.1453+707T>A c.962+707T>A c.316+1246T>A (n.316+1246T>A) c.514+1246T>A (n.514+1246T>A) c.*95T>A (n.*95T>A) c.3610T>A (p.Phe1204Ile) c.3580T>A (p.Phe1194Ile) c.3706T>A (p.Phe1236Ile) c.2995T>A (p.Phe999Ile) c.3597+707T>A (n.3597+707T>A) c.3547+1246T>A (n.3547+1246T>A) c.2932T>A (p.Phe978Ile) c.2899T>A (p.Phe967Ile) c.3112T>A (p.Phe1038Ile) | |
X | g.53235077G>A | CA516673923 | IQSEC2 | c.3768C>T (p.Ser1256=) c.1453+706C>T c.962+706C>T c.316+1245C>T (n.316+1245C>T) c.514+1245C>T (n.514+1245C>T) c.*94C>T (n.*94C>T) c.3609C>T (p.Ser1203=) c.3579C>T (p.Ser1193=) c.3705C>T (p.Ser1235=) c.2994C>T (p.Ser998=) c.3597+706C>T (n.3597+706C>T) c.3547+1245C>T (n.3547+1245C>T) c.2931C>T (p.Ser977=) c.2898C>T (p.Ser966=) c.3111C>T (p.Ser1037=) | |
X | g.53235077G>C | CA516673924 | IQSEC2 | c.3768C>G (p.Ser1256=) c.1453+706C>G c.962+706C>G c.316+1245C>G (n.316+1245C>G) c.514+1245C>G (n.514+1245C>G) c.*94C>G (n.*94C>G) c.3609C>G (p.Ser1203=) c.3579C>G (p.Ser1193=) c.3705C>G (p.Ser1235=) c.2994C>G (p.Ser998=) c.3597+706C>G (n.3597+706C>G) c.3547+1245C>G (n.3547+1245C>G) c.2931C>G (p.Ser977=) c.2898C>G (p.Ser966=) c.3111C>G (p.Ser1037=) | |
X | g.53235077G>T | CA516673925 | IQSEC2 | c.3768C>A (p.Ser1256=) c.1453+706C>A c.962+706C>A c.316+1245C>A (n.316+1245C>A) c.514+1245C>A (n.514+1245C>A) c.*94C>A (n.*94C>A) c.3609C>A (p.Ser1203=) c.3579C>A (p.Ser1193=) c.3705C>A (p.Ser1235=) c.2994C>A (p.Ser998=) c.3597+706C>A (n.3597+706C>A) c.3547+1245C>A (n.3547+1245C>A) c.2931C>A (p.Ser977=) c.2898C>A (p.Ser966=) c.3111C>A (p.Ser1037=) | |
X | g.53235078G>A | CA413142080 | IQSEC2 | c.3767C>T (p.Ser1256Phe) c.1453+705C>T c.962+705C>T c.316+1244C>T (n.316+1244C>T) c.514+1244C>T (n.514+1244C>T) c.*93C>T (n.*93C>T) c.3608C>T (p.Ser1203Phe) c.3578C>T (p.Ser1193Phe) c.3704C>T (p.Ser1235Phe) c.2993C>T (p.Ser998Phe) c.3597+705C>T (n.3597+705C>T) c.3547+1244C>T (n.3547+1244C>T) c.2930C>T (p.Ser977Phe) c.2897C>T (p.Ser966Phe) c.3110C>T (p.Ser1037Phe) | dbSNP |
X | g.53235078G>C | CA413142083 | IQSEC2 | c.3767C>G (p.Ser1256Cys) c.1453+705C>G c.962+705C>G c.316+1244C>G (n.316+1244C>G) c.514+1244C>G (n.514+1244C>G) c.*93C>G (n.*93C>G) c.3608C>G (p.Ser1203Cys) c.3578C>G (p.Ser1193Cys) c.3704C>G (p.Ser1235Cys) c.2993C>G (p.Ser998Cys) c.3597+705C>G (n.3597+705C>G) c.3547+1244C>G (n.3547+1244C>G) c.2930C>G (p.Ser977Cys) c.2897C>G (p.Ser966Cys) c.3110C>G (p.Ser1037Cys) | |
X | g.53235078G= | CA2429770686 | IQSEC2 | c.3767C= (p.Ser1256=) c.1453+705C= c.962+705C= c.316+1244C= (n.316+1244C=) c.514+1244C= (n.514+1244C=) c.*93C= (n.*93C=) c.3608C= (p.Ser1203=) c.3578C= (p.Ser1193=) c.3704C= (p.Ser1235=) c.2993C= (p.Ser998=) c.3597+705C= (n.3597+705C=) c.3547+1244C= (n.3547+1244C=) c.2930C= (p.Ser977=) c.2897C= (p.Ser966=) c.3110C= (p.Ser1037=) | |
X | g.53235078G>T | CA413142085 | IQSEC2 | c.3767C>A (p.Ser1256Tyr) c.1453+705C>A c.962+705C>A c.316+1244C>A (n.316+1244C>A) c.514+1244C>A (n.514+1244C>A) c.*93C>A (n.*93C>A) c.3608C>A (p.Ser1203Tyr) c.3578C>A (p.Ser1193Tyr) c.3704C>A (p.Ser1235Tyr) c.2993C>A (p.Ser998Tyr) c.3597+705C>A (n.3597+705C>A) c.3547+1244C>A (n.3547+1244C>A) c.2930C>A (p.Ser977Tyr) c.2897C>A (p.Ser966Tyr) c.3110C>A (p.Ser1037Tyr) | |
X | g.53235079A>C | CA413142088 | IQSEC2 | c.3766T>G (p.Ser1256Ala) c.1453+704T>G c.962+704T>G c.316+1243T>G (n.316+1243T>G) c.514+1243T>G (n.514+1243T>G) c.*92T>G (n.*92T>G) c.3607T>G (p.Ser1203Ala) c.3577T>G (p.Ser1193Ala) c.3703T>G (p.Ser1235Ala) c.2992T>G (p.Ser998Ala) c.3597+704T>G (n.3597+704T>G) c.3547+1243T>G (n.3547+1243T>G) c.2929T>G (p.Ser977Ala) c.2896T>G (p.Ser966Ala) c.3109T>G (p.Ser1037Ala) | |
X | g.53235079A>G | CA413142090 | IQSEC2 | c.3766T>C (p.Ser1256Pro) c.1453+704T>C c.962+704T>C c.316+1243T>C (n.316+1243T>C) c.514+1243T>C (n.514+1243T>C) c.*92T>C (n.*92T>C) c.3607T>C (p.Ser1203Pro) c.3577T>C (p.Ser1193Pro) c.3703T>C (p.Ser1235Pro) c.2992T>C (p.Ser998Pro) c.3597+704T>C (n.3597+704T>C) c.3547+1243T>C (n.3547+1243T>C) c.2929T>C (p.Ser977Pro) c.2896T>C (p.Ser966Pro) c.3109T>C (p.Ser1037Pro) | |
X | g.53235079A>T | CA413142093 | IQSEC2 | c.3766T>A (p.Ser1256Thr) c.1453+704T>A c.962+704T>A c.316+1243T>A (n.316+1243T>A) c.514+1243T>A (n.514+1243T>A) c.*92T>A (n.*92T>A) c.3607T>A (p.Ser1203Thr) c.3577T>A (p.Ser1193Thr) c.3703T>A (p.Ser1235Thr) c.2992T>A (p.Ser998Thr) c.3597+704T>A (n.3597+704T>A) c.3547+1243T>A (n.3547+1243T>A) c.2929T>A (p.Ser977Thr) c.2896T>A (p.Ser966Thr) c.3109T>A (p.Ser1037Thr) | |
X | g.53235080T>A | CA516673929 | IQSEC2 | c.3765A>T (p.Ser1255=) c.1453+703A>T c.962+703A>T c.316+1242A>T (n.316+1242A>T) c.514+1242A>T (n.514+1242A>T) c.*91A>T (n.*91A>T) c.3606A>T (p.Ser1202=) c.3576A>T (p.Ser1192=) c.3702A>T (p.Ser1234=) c.2991A>T (p.Ser997=) c.3597+703A>T (n.3597+703A>T) c.3547+1242A>T (n.3547+1242A>T) c.2928A>T (p.Ser976=) c.2895A>T (p.Ser965=) c.3108A>T (p.Ser1036=) | |
X | g.53235080T>C | CA516673930 | IQSEC2 | c.3765A>G (p.Ser1255=) c.1453+703A>G c.962+703A>G c.316+1242A>G (n.316+1242A>G) c.514+1242A>G (n.514+1242A>G) c.*91A>G (n.*91A>G) c.3606A>G (p.Ser1202=) c.3576A>G (p.Ser1192=) c.3702A>G (p.Ser1234=) c.2991A>G (p.Ser997=) c.3597+703A>G (n.3597+703A>G) c.3547+1242A>G (n.3547+1242A>G) c.2928A>G (p.Ser976=) c.2895A>G (p.Ser965=) c.3108A>G (p.Ser1036=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53235080T>G | CA516673928 | IQSEC2 | c.3765A>C (p.Ser1255=) c.1453+703A>C c.962+703A>C c.316+1242A>C (n.316+1242A>C) c.514+1242A>C (n.514+1242A>C) c.*91A>C (n.*91A>C) c.3606A>C (p.Ser1202=) c.3576A>C (p.Ser1192=) c.3702A>C (p.Ser1234=) c.2991A>C (p.Ser997=) c.3597+703A>C (n.3597+703A>C) c.3547+1242A>C (n.3547+1242A>C) c.2928A>C (p.Ser976=) c.2895A>C (p.Ser965=) c.3108A>C (p.Ser1036=) | |
X | g.53235080T= | CA2429770687 | IQSEC2 | c.3765A= (p.Ser1255=) c.1453+703A= c.962+703A= c.316+1242A= (n.316+1242A=) c.514+1242A= (n.514+1242A=) c.*91A= (n.*91A=) c.3606A= (p.Ser1202=) c.3576A= (p.Ser1192=) c.3702A= (p.Ser1234=) c.2991A= (p.Ser997=) c.3597+703A= (n.3597+703A=) c.3547+1242A= (n.3547+1242A=) c.2928A= (p.Ser976=) c.2895A= (p.Ser965=) c.3108A= (p.Ser1036=) | |
X | g.53235081G>A | CA413142101 | IQSEC2 | c.3764C>T (p.Ser1255Leu) c.1453+702C>T c.962+702C>T c.316+1241C>T (n.316+1241C>T) c.514+1241C>T (n.514+1241C>T) c.*90C>T (n.*90C>T) c.3605C>T (p.Ser1202Leu) c.3575C>T (p.Ser1192Leu) c.3701C>T (p.Ser1234Leu) c.2990C>T (p.Ser997Leu) c.3597+702C>T (n.3597+702C>T) c.3547+1241C>T (n.3547+1241C>T) c.2927C>T (p.Ser976Leu) c.2894C>T (p.Ser965Leu) c.3107C>T (p.Ser1036Leu) | |
X | g.53235081G>C | CA413142096 | IQSEC2 | c.3764C>G (p.Ser1255Ter) c.1453+702C>G c.962+702C>G c.316+1241C>G (n.316+1241C>G) c.514+1241C>G (n.514+1241C>G) c.*90C>G (n.*90C>G) c.3605C>G (p.Ser1202Ter) c.3575C>G (p.Ser1192Ter) c.3701C>G (p.Ser1234Ter) c.2990C>G (p.Ser997Ter) c.3597+702C>G (n.3597+702C>G) c.3547+1241C>G (n.3547+1241C>G) c.2927C>G (p.Ser976Ter) c.2894C>G (p.Ser965Ter) c.3107C>G (p.Ser1036Ter) | |
X | g.53235081G>T | CA413142099 | IQSEC2 | c.3764C>A (p.Ser1255Ter) c.1453+702C>A c.962+702C>A c.316+1241C>A (n.316+1241C>A) c.514+1241C>A (n.514+1241C>A) c.*90C>A (n.*90C>A) c.3605C>A (p.Ser1202Ter) c.3575C>A (p.Ser1192Ter) c.3701C>A (p.Ser1234Ter) c.2990C>A (p.Ser997Ter) c.3597+702C>A (n.3597+702C>A) c.3547+1241C>A (n.3547+1241C>A) c.2927C>A (p.Ser976Ter) c.2894C>A (p.Ser965Ter) c.3107C>A (p.Ser1036Ter) | |
X | g.53235082A>C | CA413142105 | IQSEC2 | c.3763T>G (p.Ser1255Ala) c.1453+701T>G c.962+701T>G c.316+1240T>G (n.316+1240T>G) c.514+1240T>G (n.514+1240T>G) c.*89T>G (n.*89T>G) c.3604T>G (p.Ser1202Ala) c.3574T>G (p.Ser1192Ala) c.3700T>G (p.Ser1234Ala) c.2989T>G (p.Ser997Ala) c.3597+701T>G (n.3597+701T>G) c.3547+1240T>G (n.3547+1240T>G) c.2926T>G (p.Ser976Ala) c.2893T>G (p.Ser965Ala) c.3106T>G (p.Ser1036Ala) | |
X | g.53235082A>G | CA413142107 | IQSEC2 | c.3763T>C (p.Ser1255Pro) c.1453+701T>C c.962+701T>C c.316+1240T>C (n.316+1240T>C) c.514+1240T>C (n.514+1240T>C) c.*89T>C (n.*89T>C) c.3604T>C (p.Ser1202Pro) c.3574T>C (p.Ser1192Pro) c.3700T>C (p.Ser1234Pro) c.2989T>C (p.Ser997Pro) c.3597+701T>C (n.3597+701T>C) c.3547+1240T>C (n.3547+1240T>C) c.2926T>C (p.Ser976Pro) c.2893T>C (p.Ser965Pro) c.3106T>C (p.Ser1036Pro) | |
X | g.53235082A>T | CA413142109 | IQSEC2 | c.3763T>A (p.Ser1255Thr) c.1453+701T>A c.962+701T>A c.316+1240T>A (n.316+1240T>A) c.514+1240T>A (n.514+1240T>A) c.*89T>A (n.*89T>A) c.3604T>A (p.Ser1202Thr) c.3574T>A (p.Ser1192Thr) c.3700T>A (p.Ser1234Thr) c.2989T>A (p.Ser997Thr) c.3597+701T>A (n.3597+701T>A) c.3547+1240T>A (n.3547+1240T>A) c.2926T>A (p.Ser976Thr) c.2893T>A (p.Ser965Thr) c.3106T>A (p.Ser1036Thr) | |
X | g.53235083G>A | CA516673936 | IQSEC2 | c.3762C>T (p.Ser1254=) c.1453+700C>T c.962+700C>T c.316+1239C>T (n.316+1239C>T) c.514+1239C>T (n.514+1239C>T) c.*88C>T (n.*88C>T) c.3603C>T (p.Ser1201=) c.3573C>T (p.Ser1191=) c.3699C>T (p.Ser1233=) c.2988C>T (p.Ser996=) c.3597+700C>T (n.3597+700C>T) c.3547+1239C>T (n.3547+1239C>T) c.2925C>T (p.Ser975=) c.2892C>T (p.Ser964=) c.3105C>T (p.Ser1035=) | |
X | g.53235083G>C | CA516673937 | IQSEC2 | c.3762C>G (p.Ser1254=) c.1453+700C>G c.962+700C>G c.316+1239C>G (n.316+1239C>G) c.514+1239C>G (n.514+1239C>G) c.*88C>G (n.*88C>G) c.3603C>G (p.Ser1201=) c.3573C>G (p.Ser1191=) c.3699C>G (p.Ser1233=) c.2988C>G (p.Ser996=) c.3597+700C>G (n.3597+700C>G) c.3547+1239C>G (n.3547+1239C>G) c.2925C>G (p.Ser975=) c.2892C>G (p.Ser964=) c.3105C>G (p.Ser1035=) | |
X | g.53235083G>T | CA516673938 | IQSEC2 | c.3762C>A (p.Ser1254=) c.1453+700C>A c.962+700C>A c.316+1239C>A (n.316+1239C>A) c.514+1239C>A (n.514+1239C>A) c.*88C>A (n.*88C>A) c.3603C>A (p.Ser1201=) c.3573C>A (p.Ser1191=) c.3699C>A (p.Ser1233=) c.2988C>A (p.Ser996=) c.3597+700C>A (n.3597+700C>A) c.3547+1239C>A (n.3547+1239C>A) c.2925C>A (p.Ser975=) c.2892C>A (p.Ser964=) c.3105C>A (p.Ser1035=) | gnomAD v4 |
X | g.53235084G>A | CA413142111 | IQSEC2 | c.3761C>T (p.Ser1254Phe) c.1453+699C>T c.962+699C>T c.316+1238C>T (n.316+1238C>T) c.514+1238C>T (n.514+1238C>T) c.*87C>T (n.*87C>T) c.3602C>T (p.Ser1201Phe) c.3572C>T (p.Ser1191Phe) c.3698C>T (p.Ser1233Phe) c.2987C>T (p.Ser996Phe) c.3597+699C>T (n.3597+699C>T) c.3547+1238C>T (n.3547+1238C>T) c.2924C>T (p.Ser975Phe) c.2891C>T (p.Ser964Phe) c.3104C>T (p.Ser1035Phe) | ClinVar dbSNP |
X | g.53235084G>C | CA413142114 | IQSEC2 | c.3761C>G (p.Ser1254Cys) c.1453+699C>G c.962+699C>G c.316+1238C>G (n.316+1238C>G) c.514+1238C>G (n.514+1238C>G) c.*87C>G (n.*87C>G) c.3602C>G (p.Ser1201Cys) c.3572C>G (p.Ser1191Cys) c.3698C>G (p.Ser1233Cys) c.2987C>G (p.Ser996Cys) c.3597+699C>G (n.3597+699C>G) c.3547+1238C>G (n.3547+1238C>G) c.2924C>G (p.Ser975Cys) c.2891C>G (p.Ser964Cys) c.3104C>G (p.Ser1035Cys) | |
X | g.53235084G>T | CA413142116 | IQSEC2 | c.3761C>A (p.Ser1254Tyr) c.1453+699C>A c.962+699C>A c.316+1238C>A (n.316+1238C>A) c.514+1238C>A (n.514+1238C>A) c.*87C>A (n.*87C>A) c.3602C>A (p.Ser1201Tyr) c.3572C>A (p.Ser1191Tyr) c.3698C>A (p.Ser1233Tyr) c.2987C>A (p.Ser996Tyr) c.3597+699C>A (n.3597+699C>A) c.3547+1238C>A (n.3547+1238C>A) c.2924C>A (p.Ser975Tyr) c.2891C>A (p.Ser964Tyr) c.3104C>A (p.Ser1035Tyr) | |
X | g.53235085A= | CA2429770688 | IQSEC2 | c.3760T= (p.Ser1254=) c.1453+698T= c.962+698T= c.316+1237T= (n.316+1237T=) c.514+1237T= (n.514+1237T=) c.*86T= (n.*86T=) c.3601T= (p.Ser1201=) c.3571T= (p.Ser1191=) c.3697T= (p.Ser1233=) c.2986T= (p.Ser996=) c.3597+698T= (n.3597+698T=) c.3547+1237T= (n.3547+1237T=) c.2923T= (p.Ser975=) c.2890T= (p.Ser964=) c.3103T= (p.Ser1035=) | |
X | g.53235085A>C | CA413142119 | IQSEC2 | c.3760T>G (p.Ser1254Ala) c.1453+698T>G c.962+698T>G c.316+1237T>G (n.316+1237T>G) c.514+1237T>G (n.514+1237T>G) c.*86T>G (n.*86T>G) c.3601T>G (p.Ser1201Ala) c.3571T>G (p.Ser1191Ala) c.3697T>G (p.Ser1233Ala) c.2986T>G (p.Ser996Ala) c.3597+698T>G (n.3597+698T>G) c.3547+1237T>G (n.3547+1237T>G) c.2923T>G (p.Ser975Ala) c.2890T>G (p.Ser964Ala) c.3103T>G (p.Ser1035Ala) | |
X | g.53235085A>G | CA413142121 | IQSEC2 | c.3760T>C (p.Ser1254Pro) c.1453+698T>C c.962+698T>C c.316+1237T>C (n.316+1237T>C) c.514+1237T>C (n.514+1237T>C) c.*86T>C (n.*86T>C) c.3601T>C (p.Ser1201Pro) c.3571T>C (p.Ser1191Pro) c.3697T>C (p.Ser1233Pro) c.2986T>C (p.Ser996Pro) c.3597+698T>C (n.3597+698T>C) c.3547+1237T>C (n.3547+1237T>C) c.2923T>C (p.Ser975Pro) c.2890T>C (p.Ser964Pro) c.3103T>C (p.Ser1035Pro) | dbSNP |
X | g.53235085A>T | CA413142123 | IQSEC2 | c.3760T>A (p.Ser1254Thr) c.1453+698T>A c.962+698T>A c.316+1237T>A (n.316+1237T>A) c.514+1237T>A (n.514+1237T>A) c.*86T>A (n.*86T>A) c.3601T>A (p.Ser1201Thr) c.3571T>A (p.Ser1191Thr) c.3697T>A (p.Ser1233Thr) c.2986T>A (p.Ser996Thr) c.3597+698T>A (n.3597+698T>A) c.3547+1237T>A (n.3547+1237T>A) c.2923T>A (p.Ser975Thr) c.2890T>A (p.Ser964Thr) c.3103T>A (p.Ser1035Thr) | |
X | g.53235086G>A | CA516673944 | IQSEC2 | c.3759C>T (p.Asn1253=) c.1453+697C>T c.962+697C>T c.316+1236C>T (n.316+1236C>T) c.514+1236C>T (n.514+1236C>T) c.*85C>T (n.*85C>T) c.3600C>T (p.Asn1200=) c.3570C>T (p.Asn1190=) c.3696C>T (p.Asn1232=) c.2985C>T (p.Asn995=) c.3597+697C>T (n.3597+697C>T) c.3547+1236C>T (n.3547+1236C>T) c.2922C>T (p.Asn974=) c.2889C>T (p.Asn963=) c.3102C>T (p.Asn1034=) | |
X | g.53235086G>C | CA413142126 | IQSEC2 | c.3759C>G (p.Asn1253Lys) c.1453+697C>G c.962+697C>G c.316+1236C>G (n.316+1236C>G) c.514+1236C>G (n.514+1236C>G) c.*85C>G (n.*85C>G) c.3600C>G (p.Asn1200Lys) c.3570C>G (p.Asn1190Lys) c.3696C>G (p.Asn1232Lys) c.2985C>G (p.Asn995Lys) c.3597+697C>G (n.3597+697C>G) c.3547+1236C>G (n.3547+1236C>G) c.2922C>G (p.Asn974Lys) c.2889C>G (p.Asn963Lys) c.3102C>G (p.Asn1034Lys) | |
X | g.53235086G>T | CA413142128 | IQSEC2 | c.3759C>A (p.Asn1253Lys) c.1453+697C>A c.962+697C>A c.316+1236C>A (n.316+1236C>A) c.514+1236C>A (n.514+1236C>A) c.*85C>A (n.*85C>A) c.3600C>A (p.Asn1200Lys) c.3570C>A (p.Asn1190Lys) c.3696C>A (p.Asn1232Lys) c.2985C>A (p.Asn995Lys) c.3597+697C>A (n.3597+697C>A) c.3547+1236C>A (n.3547+1236C>A) c.2922C>A (p.Asn974Lys) c.2889C>A (p.Asn963Lys) c.3102C>A (p.Asn1034Lys) | |
X | g.53235087T>A | CA413142135 | IQSEC2 | c.3758A>T (p.Asn1253Ile) c.1453+696A>T c.962+696A>T c.316+1235A>T (n.316+1235A>T) c.514+1235A>T (n.514+1235A>T) c.*84A>T (n.*84A>T) c.3599A>T (p.Asn1200Ile) c.3569A>T (p.Asn1190Ile) c.3695A>T (p.Asn1232Ile) c.2984A>T (p.Asn995Ile) c.3597+696A>T (n.3597+696A>T) c.3547+1235A>T (n.3547+1235A>T) c.2921A>T (p.Asn974Ile) c.2888A>T (p.Asn963Ile) c.3101A>T (p.Asn1034Ile) | |
X | g.53235087T>C | CA413142132 | IQSEC2 | c.3758A>G (p.Asn1253Ser) c.1453+696A>G c.962+696A>G c.316+1235A>G (n.316+1235A>G) c.514+1235A>G (n.514+1235A>G) c.*84A>G (n.*84A>G) c.3599A>G (p.Asn1200Ser) c.3569A>G (p.Asn1190Ser) c.3695A>G (p.Asn1232Ser) c.2984A>G (p.Asn995Ser) c.3597+696A>G (n.3597+696A>G) c.3547+1235A>G (n.3547+1235A>G) c.2921A>G (p.Asn974Ser) c.2888A>G (p.Asn963Ser) c.3101A>G (p.Asn1034Ser) | ClinVar |
X | g.53235087T>G | CA413142130 | IQSEC2 | c.3758A>C (p.Asn1253Thr) c.1453+696A>C c.962+696A>C c.316+1235A>C (n.316+1235A>C) c.514+1235A>C (n.514+1235A>C) c.*84A>C (n.*84A>C) c.3599A>C (p.Asn1200Thr) c.3569A>C (p.Asn1190Thr) c.3695A>C (p.Asn1232Thr) c.2984A>C (p.Asn995Thr) c.3597+696A>C (n.3597+696A>C) c.3547+1235A>C (n.3547+1235A>C) c.2921A>C (p.Asn974Thr) c.2888A>C (p.Asn963Thr) c.3101A>C (p.Asn1034Thr) | gnomAD v3 gnomAD v4 |
X | g.53235088T>A | CA413142137 | IQSEC2 | c.3757A>T (p.Asn1253Tyr) c.1453+695A>T c.962+695A>T c.316+1234A>T (n.316+1234A>T) c.514+1234A>T (n.514+1234A>T) c.*83A>T (n.*83A>T) c.3598A>T (p.Asn1200Tyr) c.3568A>T (p.Asn1190Tyr) c.3694A>T (p.Asn1232Tyr) c.2983A>T (p.Asn995Tyr) c.3597+695A>T (n.3597+695A>T) c.3547+1234A>T (n.3547+1234A>T) c.2920A>T (p.Asn974Tyr) c.2887A>T (p.Asn963Tyr) c.3100A>T (p.Asn1034Tyr) | |
X | g.53235088T>C | CA413142140 | IQSEC2 | c.3757A>G (p.Asn1253Asp) c.1453+695A>G c.962+695A>G c.316+1234A>G (n.316+1234A>G) c.514+1234A>G (n.514+1234A>G) c.*83A>G (n.*83A>G) c.3598A>G (p.Asn1200Asp) c.3568A>G (p.Asn1190Asp) c.3694A>G (p.Asn1232Asp) c.2983A>G (p.Asn995Asp) c.3597+695A>G (n.3597+695A>G) c.3547+1234A>G (n.3547+1234A>G) c.2920A>G (p.Asn974Asp) c.2887A>G (p.Asn963Asp) c.3100A>G (p.Asn1034Asp) | |
X | g.53235088T>G | CA413142142 | IQSEC2 | c.3757A>C (p.Asn1253His) c.1453+695A>C c.962+695A>C c.316+1234A>C (n.316+1234A>C) c.514+1234A>C (n.514+1234A>C) c.*83A>C (n.*83A>C) c.3598A>C (p.Asn1200His) c.3568A>C (p.Asn1190His) c.3694A>C (p.Asn1232His) c.2983A>C (p.Asn995His) c.3597+695A>C (n.3597+695A>C) c.3547+1234A>C (n.3547+1234A>C) c.2920A>C (p.Asn974His) c.2887A>C (p.Asn963His) c.3100A>C (p.Asn1034His) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.53235088T= | CA2429770689 | IQSEC2 | c.3757A= (p.Asn1253=) c.1453+695A= c.962+695A= c.316+1234A= (n.316+1234A=) c.514+1234A= (n.514+1234A=) c.*83A= (n.*83A=) c.3598A= (p.Asn1200=) c.3568A= (p.Asn1190=) c.3694A= (p.Asn1232=) c.2983A= (p.Asn995=) c.3597+695A= (n.3597+695A=) c.3547+1234A= (n.3547+1234A=) c.2920A= (p.Asn974=) c.2887A= (p.Asn963=) c.3100A= (p.Asn1034=) | |
X | g.53235089G>A | CA516673950 | IQSEC2 | c.3756C>T (p.Ser1252=) c.1453+694C>T c.962+694C>T c.316+1233C>T (n.316+1233C>T) c.514+1233C>T (n.514+1233C>T) c.*82C>T (n.*82C>T) c.3597C>T (p.Ser1199=) c.3567C>T (p.Ser1189=) c.3693C>T (p.Ser1231=) c.2982C>T (p.Ser994=) c.3597+694C>T (n.3597+694C>T) c.3547+1233C>T (n.3547+1233C>T) c.2919C>T (p.Ser973=) c.2886C>T (p.Ser962=) c.3099C>T (p.Ser1033=) | |
X | g.53235089G>C | CA516673951 | IQSEC2 | c.3756C>G (p.Ser1252=) c.1453+694C>G c.962+694C>G c.316+1233C>G (n.316+1233C>G) c.514+1233C>G (n.514+1233C>G) c.*82C>G (n.*82C>G) c.3597C>G (p.Ser1199=) c.3567C>G (p.Ser1189=) c.3693C>G (p.Ser1231=) c.2982C>G (p.Ser994=) c.3597+694C>G (n.3597+694C>G) c.3547+1233C>G (n.3547+1233C>G) c.2919C>G (p.Ser973=) c.2886C>G (p.Ser962=) c.3099C>G (p.Ser1033=) | |
X | g.53235089G>T | CA516673952 | IQSEC2 | c.3756C>A (p.Ser1252=) c.1453+694C>A c.962+694C>A c.316+1233C>A (n.316+1233C>A) c.514+1233C>A (n.514+1233C>A) c.*82C>A (n.*82C>A) c.3597C>A (p.Ser1199=) c.3567C>A (p.Ser1189=) c.3693C>A (p.Ser1231=) c.2982C>A (p.Ser994=) c.3597+694C>A (n.3597+694C>A) c.3547+1233C>A (n.3547+1233C>A) c.2919C>A (p.Ser973=) c.2886C>A (p.Ser962=) c.3099C>A (p.Ser1033=) | |
X | g.53235090G>A | CA413142145 | IQSEC2 | c.3755C>T (p.Ser1252Phe) c.1453+693C>T c.962+693C>T c.316+1232C>T (n.316+1232C>T) c.514+1232C>T (n.514+1232C>T) c.*81C>T (n.*81C>T) c.3596C>T (p.Ser1199Phe) c.3566C>T (p.Ser1189Phe) c.3692C>T (p.Ser1231Phe) c.2981C>T (p.Ser994Phe) c.3597+693C>T (n.3597+693C>T) c.3547+1232C>T (n.3547+1232C>T) c.2918C>T (p.Ser973Phe) c.2885C>T (p.Ser962Phe) c.3098C>T (p.Ser1033Phe) | |
X | g.53235090G>C | CA413142147 | IQSEC2 | c.3755C>G (p.Ser1252Cys) c.1453+693C>G c.962+693C>G c.316+1232C>G (n.316+1232C>G) c.514+1232C>G (n.514+1232C>G) c.*81C>G (n.*81C>G) c.3596C>G (p.Ser1199Cys) c.3566C>G (p.Ser1189Cys) c.3692C>G (p.Ser1231Cys) c.2981C>G (p.Ser994Cys) c.3597+693C>G (n.3597+693C>G) c.3547+1232C>G (n.3547+1232C>G) c.2918C>G (p.Ser973Cys) c.2885C>G (p.Ser962Cys) c.3098C>G (p.Ser1033Cys) | |
X | g.53235090G>T | CA413142148 | IQSEC2 | c.3755C>A (p.Ser1252Tyr) c.1453+693C>A c.962+693C>A c.316+1232C>A (n.316+1232C>A) c.514+1232C>A (n.514+1232C>A) c.*81C>A (n.*81C>A) c.3596C>A (p.Ser1199Tyr) c.3566C>A (p.Ser1189Tyr) c.3692C>A (p.Ser1231Tyr) c.2981C>A (p.Ser994Tyr) c.3597+693C>A (n.3597+693C>A) c.3547+1232C>A (n.3547+1232C>A) c.2918C>A (p.Ser973Tyr) c.2885C>A (p.Ser962Tyr) c.3098C>A (p.Ser1033Tyr) | |
X | g.53235091A>C | CA413142150 | IQSEC2 | c.3754T>G (p.Ser1252Ala) c.1453+692T>G c.962+692T>G c.316+1231T>G (n.316+1231T>G) c.514+1231T>G (n.514+1231T>G) c.*80T>G (n.*80T>G) c.3595T>G (p.Ser1199Ala) c.3565T>G (p.Ser1189Ala) c.3691T>G (p.Ser1231Ala) c.2980T>G (p.Ser994Ala) c.3597+692T>G (n.3597+692T>G) c.3547+1231T>G (n.3547+1231T>G) c.2917T>G (p.Ser973Ala) c.2884T>G (p.Ser962Ala) c.3097T>G (p.Ser1033Ala) | |
X | g.53235091A>G | CA413142154 | IQSEC2 | c.3754T>C (p.Ser1252Pro) c.1453+692T>C c.962+692T>C c.316+1231T>C (n.316+1231T>C) c.514+1231T>C (n.514+1231T>C) c.*80T>C (n.*80T>C) c.3595T>C (p.Ser1199Pro) c.3565T>C (p.Ser1189Pro) c.3691T>C (p.Ser1231Pro) c.2980T>C (p.Ser994Pro) c.3597+692T>C (n.3597+692T>C) c.3547+1231T>C (n.3547+1231T>C) c.2917T>C (p.Ser973Pro) c.2884T>C (p.Ser962Pro) c.3097T>C (p.Ser1033Pro) | gnomAD v4 |
X | g.53235091A>T | CA413142157 | IQSEC2 | c.3754T>A (p.Ser1252Thr) c.1453+692T>A c.962+692T>A c.316+1231T>A (n.316+1231T>A) c.514+1231T>A (n.514+1231T>A) c.*80T>A (n.*80T>A) c.3595T>A (p.Ser1199Thr) c.3565T>A (p.Ser1189Thr) c.3691T>A (p.Ser1231Thr) c.2980T>A (p.Ser994Thr) c.3597+692T>A (n.3597+692T>A) c.3547+1231T>A (n.3547+1231T>A) c.2917T>A (p.Ser973Thr) c.2884T>A (p.Ser962Thr) c.3097T>A (p.Ser1033Thr) | |
X | g.53235091_53235094del | CA2693794346 | IQSEC2 | c.3751_3754del (p.Val1251ProfsTer?) c.1453+689_1453+692del c.962+689_962+692del c.316+1228_316+1231del (n.316+1228_316+1231del) c.514+1228_514+1231del (n.514+1228_514+1231del) c.*77_*80del (n.*77_*80del) c.3592_3595del (p.Val1198ProfsTer?) c.3562_3565del (p.Val1188ProfsTer?) c.3688_3691del (p.Val1230ProfsTer?) c.2977_2980del (p.Val993ProfsTer?) c.3597+689_3597+692del (n.3597+689_3597+692del) c.3547+1228_3547+1231del (n.3547+1228_3547+1231del) c.2914_2917del (p.Val972ProfsTer?) c.2881_2884del (p.Val961ProfsTer?) c.3094_3097del (p.Val1032ProfsTer?) | gnomAD v4 |
X | g.53235092G>A | CA516673958 | IQSEC2 | c.3753C>T (p.Val1251=) c.1453+691C>T c.962+691C>T c.316+1230C>T (n.316+1230C>T) c.514+1230C>T (n.514+1230C>T) c.*79C>T (n.*79C>T) c.3594C>T (p.Val1198=) c.3564C>T (p.Val1188=) c.3690C>T (p.Val1230=) c.2979C>T (p.Val993=) c.3597+691C>T (n.3597+691C>T) c.3547+1230C>T (n.3547+1230C>T) c.2916C>T (p.Val972=) c.2883C>T (p.Val961=) c.3096C>T (p.Val1032=) | |
X | g.53235092G>C | CA516673960 | IQSEC2 | c.3753C>G (p.Val1251=) c.1453+691C>G c.962+691C>G c.316+1230C>G (n.316+1230C>G) c.514+1230C>G (n.514+1230C>G) c.*79C>G (n.*79C>G) c.3594C>G (p.Val1198=) c.3564C>G (p.Val1188=) c.3690C>G (p.Val1230=) c.2979C>G (p.Val993=) c.3597+691C>G (n.3597+691C>G) c.3547+1230C>G (n.3547+1230C>G) c.2916C>G (p.Val972=) c.2883C>G (p.Val961=) c.3096C>G (p.Val1032=) | |
X | g.53235092G>T | CA516673961 | IQSEC2 | c.3753C>A (p.Val1251=) c.1453+691C>A c.962+691C>A c.316+1230C>A (n.316+1230C>A) c.514+1230C>A (n.514+1230C>A) c.*79C>A (n.*79C>A) c.3594C>A (p.Val1198=) c.3564C>A (p.Val1188=) c.3690C>A (p.Val1230=) c.2979C>A (p.Val993=) c.3597+691C>A (n.3597+691C>A) c.3547+1230C>A (n.3547+1230C>A) c.2916C>A (p.Val972=) c.2883C>A (p.Val961=) c.3096C>A (p.Val1032=) | gnomAD v4 |
X | g.53235093A>C | CA413142163 | IQSEC2 | c.3752T>G (p.Val1251Gly) c.1453+690T>G c.962+690T>G c.316+1229T>G (n.316+1229T>G) c.514+1229T>G (n.514+1229T>G) c.*78T>G (n.*78T>G) c.3593T>G (p.Val1198Gly) c.3563T>G (p.Val1188Gly) c.3689T>G (p.Val1230Gly) c.2978T>G (p.Val993Gly) c.3597+690T>G (n.3597+690T>G) c.3547+1229T>G (n.3547+1229T>G) c.2915T>G (p.Val972Gly) c.2882T>G (p.Val961Gly) c.3095T>G (p.Val1032Gly) | |
X | g.53235093A>G | CA413142166 | IQSEC2 | c.3752T>C (p.Val1251Ala) c.1453+690T>C c.962+690T>C c.316+1229T>C (n.316+1229T>C) c.514+1229T>C (n.514+1229T>C) c.*78T>C (n.*78T>C) c.3593T>C (p.Val1198Ala) c.3563T>C (p.Val1188Ala) c.3689T>C (p.Val1230Ala) c.2978T>C (p.Val993Ala) c.3597+690T>C (n.3597+690T>C) c.3547+1229T>C (n.3547+1229T>C) c.2915T>C (p.Val972Ala) c.2882T>C (p.Val961Ala) c.3095T>C (p.Val1032Ala) | |
X | g.53235093A>T | CA413142169 | IQSEC2 | c.3752T>A (p.Val1251Asp) c.1453+690T>A c.962+690T>A c.316+1229T>A (n.316+1229T>A) c.514+1229T>A (n.514+1229T>A) c.*78T>A (n.*78T>A) c.3593T>A (p.Val1198Asp) c.3563T>A (p.Val1188Asp) c.3689T>A (p.Val1230Asp) c.2978T>A (p.Val993Asp) c.3597+690T>A (n.3597+690T>A) c.3547+1229T>A (n.3547+1229T>A) c.2915T>A (p.Val972Asp) c.2882T>A (p.Val961Asp) c.3095T>A (p.Val1032Asp) | |
X | g.53235094C>A | CA413142179 | IQSEC2 | c.3751G>T (p.Val1251Phe) c.1453+689G>T c.962+689G>T c.316+1228G>T (n.316+1228G>T) c.514+1228G>T (n.514+1228G>T) c.*77G>T (n.*77G>T) c.3592G>T (p.Val1198Phe) c.3562G>T (p.Val1188Phe) c.3688G>T (p.Val1230Phe) c.2977G>T (p.Val993Phe) c.3597+689G>T (n.3597+689G>T) c.3547+1228G>T (n.3547+1228G>T) c.2914G>T (p.Val972Phe) c.2881G>T (p.Val961Phe) c.3094G>T (p.Val1032Phe) | |
X | g.53235094C= | CA2429770690 | IQSEC2 | c.3751G= (p.Val1251=) c.1453+689G= c.962+689G= c.316+1228G= (n.316+1228G=) c.514+1228G= (n.514+1228G=) c.*77G= (n.*77G=) c.3592G= (p.Val1198=) c.3562G= (p.Val1188=) c.3688G= (p.Val1230=) c.2977G= (p.Val993=) c.3597+689G= (n.3597+689G=) c.3547+1228G= (n.3547+1228G=) c.2914G= (p.Val972=) c.2881G= (p.Val961=) c.3094G= (p.Val1032=) | |
X | g.53235094C>G | CA413142175 | IQSEC2 | c.3751G>C (p.Val1251Leu) c.1453+689G>C c.962+689G>C c.316+1228G>C (n.316+1228G>C) c.514+1228G>C (n.514+1228G>C) c.*77G>C (n.*77G>C) c.3592G>C (p.Val1198Leu) c.3562G>C (p.Val1188Leu) c.3688G>C (p.Val1230Leu) c.2977G>C (p.Val993Leu) c.3597+689G>C (n.3597+689G>C) c.3547+1228G>C (n.3547+1228G>C) c.2914G>C (p.Val972Leu) c.2881G>C (p.Val961Leu) c.3094G>C (p.Val1032Leu) | dbSNP |
X | g.53235094C>T | CA413142173 | IQSEC2 | c.3751G>A (p.Val1251Ile) c.1453+689G>A c.962+689G>A c.316+1228G>A (n.316+1228G>A) c.514+1228G>A (n.514+1228G>A) c.*77G>A (n.*77G>A) c.3592G>A (p.Val1198Ile) c.3562G>A (p.Val1188Ile) c.3688G>A (p.Val1230Ile) c.2977G>A (p.Val993Ile) c.3597+689G>A (n.3597+689G>A) c.3547+1228G>A (n.3547+1228G>A) c.2914G>A (p.Val972Ile) c.2881G>A (p.Val961Ile) c.3094G>A (p.Val1032Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235095G>A | CA329162210 | IQSEC2 | c.3750C>T (p.Pro1250=) c.1453+688C>T c.962+688C>T c.316+1227C>T (n.316+1227C>T) c.514+1227C>T (n.514+1227C>T) c.*76C>T (n.*76C>T) c.3591C>T (p.Pro1197=) c.3561C>T (p.Pro1187=) c.3687C>T (p.Pro1229=) c.2976C>T (p.Pro992=) c.3597+688C>T (n.3597+688C>T) c.3547+1227C>T (n.3547+1227C>T) c.2913C>T (p.Pro971=) c.2880C>T (p.Pro960=) c.3093C>T (p.Pro1031=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.53235095G>C | CA516673966 | IQSEC2 | c.3750C>G (p.Pro1250=) c.1453+688C>G c.962+688C>G c.316+1227C>G (n.316+1227C>G) c.514+1227C>G (n.514+1227C>G) c.*76C>G (n.*76C>G) c.3591C>G (p.Pro1197=) c.3561C>G (p.Pro1187=) c.3687C>G (p.Pro1229=) c.2976C>G (p.Pro992=) c.3597+688C>G (n.3597+688C>G) c.3547+1227C>G (n.3547+1227C>G) c.2913C>G (p.Pro971=) c.2880C>G (p.Pro960=) c.3093C>G (p.Pro1031=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235095G= | CA2429770691 | IQSEC2 | c.3750C= (p.Pro1250=) c.1453+688C= c.962+688C= c.316+1227C= (n.316+1227C=) c.514+1227C= (n.514+1227C=) c.*76C= (n.*76C=) c.3591C= (p.Pro1197=) c.3561C= (p.Pro1187=) c.3687C= (p.Pro1229=) c.2976C= (p.Pro992=) c.3597+688C= (n.3597+688C=) c.3547+1227C= (n.3547+1227C=) c.2913C= (p.Pro971=) c.2880C= (p.Pro960=) c.3093C= (p.Pro1031=) | |
X | g.53235095G>T | CA516673967 | IQSEC2 | c.3750C>A (p.Pro1250=) c.1453+688C>A c.962+688C>A c.316+1227C>A (n.316+1227C>A) c.514+1227C>A (n.514+1227C>A) c.*76C>A (n.*76C>A) c.3591C>A (p.Pro1197=) c.3561C>A (p.Pro1187=) c.3687C>A (p.Pro1229=) c.2976C>A (p.Pro992=) c.3597+688C>A (n.3597+688C>A) c.3547+1227C>A (n.3547+1227C>A) c.2913C>A (p.Pro971=) c.2880C>A (p.Pro960=) c.3093C>A (p.Pro1031=) | |
X | g.53235096G>A | CA413142182 | IQSEC2 | c.3749C>T (p.Pro1250Leu) c.1453+687C>T c.962+687C>T c.316+1226C>T (n.316+1226C>T) c.514+1226C>T (n.514+1226C>T) n.570C>T c.*75C>T (n.*75C>T) c.3590C>T (p.Pro1197Leu) c.3560C>T (p.Pro1187Leu) c.3686C>T (p.Pro1229Leu) c.2975C>T (p.Pro992Leu) c.3597+687C>T (n.3597+687C>T) c.3547+1226C>T (n.3547+1226C>T) c.2912C>T (p.Pro971Leu) c.2879C>T (p.Pro960Leu) c.3092C>T (p.Pro1031Leu) | |
X | g.53235096G>C | CA413142185 | IQSEC2 | c.3749C>G (p.Pro1250Arg) c.1453+687C>G c.962+687C>G c.316+1226C>G (n.316+1226C>G) c.514+1226C>G (n.514+1226C>G) n.570C>G c.*75C>G (n.*75C>G) c.3590C>G (p.Pro1197Arg) c.3560C>G (p.Pro1187Arg) c.3686C>G (p.Pro1229Arg) c.2975C>G (p.Pro992Arg) c.3597+687C>G (n.3597+687C>G) c.3547+1226C>G (n.3547+1226C>G) c.2912C>G (p.Pro971Arg) c.2879C>G (p.Pro960Arg) c.3092C>G (p.Pro1031Arg) | |
X | g.53235096G>T | CA413142189 | IQSEC2 | c.3749C>A (p.Pro1250His) c.1453+687C>A c.962+687C>A c.316+1226C>A (n.316+1226C>A) c.514+1226C>A (n.514+1226C>A) n.570C>A c.*75C>A (n.*75C>A) c.3590C>A (p.Pro1197His) c.3560C>A (p.Pro1187His) c.3686C>A (p.Pro1229His) c.2975C>A (p.Pro992His) c.3597+687C>A (n.3597+687C>A) c.3547+1226C>A (n.3547+1226C>A) c.2912C>A (p.Pro971His) c.2879C>A (p.Pro960His) c.3092C>A (p.Pro1031His) | |
X | g.53235097G>A | CA413142192 | IQSEC2 | c.3748C>T (p.Pro1250Ser) c.1453+686C>T c.962+686C>T c.316+1225C>T (n.316+1225C>T) c.514+1225C>T (n.514+1225C>T) n.569C>T c.*74C>T (n.*74C>T) c.3589C>T (p.Pro1197Ser) c.3559C>T (p.Pro1187Ser) c.3685C>T (p.Pro1229Ser) c.2974C>T (p.Pro992Ser) c.3597+686C>T (n.3597+686C>T) c.3547+1225C>T (n.3547+1225C>T) c.2911C>T (p.Pro971Ser) c.2878C>T (p.Pro960Ser) c.3091C>T (p.Pro1031Ser) | |
X | g.53235097G>C | CA413142195 | IQSEC2 | c.3748C>G (p.Pro1250Ala) c.1453+686C>G c.962+686C>G c.316+1225C>G (n.316+1225C>G) c.514+1225C>G (n.514+1225C>G) n.569C>G c.*74C>G (n.*74C>G) c.3589C>G (p.Pro1197Ala) c.3559C>G (p.Pro1187Ala) c.3685C>G (p.Pro1229Ala) c.2974C>G (p.Pro992Ala) c.3597+686C>G (n.3597+686C>G) c.3547+1225C>G (n.3547+1225C>G) c.2911C>G (p.Pro971Ala) c.2878C>G (p.Pro960Ala) c.3091C>G (p.Pro1031Ala) | gnomAD v4 |
X | g.53235097G>T | CA413142198 | IQSEC2 | c.3748C>A (p.Pro1250Thr) c.1453+686C>A c.962+686C>A c.316+1225C>A (n.316+1225C>A) c.514+1225C>A (n.514+1225C>A) n.569C>A c.*74C>A (n.*74C>A) c.3589C>A (p.Pro1197Thr) c.3559C>A (p.Pro1187Thr) c.3685C>A (p.Pro1229Thr) c.2974C>A (p.Pro992Thr) c.3597+686C>A (n.3597+686C>A) c.3547+1225C>A (n.3547+1225C>A) c.2911C>A (p.Pro971Thr) c.2878C>A (p.Pro960Thr) c.3091C>A (p.Pro1031Thr) | gnomAD v4 |
X | g.53235098_53235126del | CA2693794361 | IQSEC2 | c.3720_3748del (p.Pro1241ArgfsTer?) c.1453+658_1453+686del c.962+658_962+686del c.316+1197_316+1225del (n.316+1197_316+1225del) c.514+1197_514+1225del (n.514+1197_514+1225del) n.541_569del c.*46_*74del (n.*46_*74del) c.3561_3589del (p.Pro1188ArgfsTer?) c.3531_3559del (p.Pro1178ArgfsTer?) c.3657_3685del (p.Pro1220ArgfsTer?) c.2946_2974del (p.Pro983ArgfsTer?) c.3597+658_3597+686del (n.3597+658_3597+686del) c.3547+1197_3547+1225del (n.3547+1197_3547+1225del) c.2883_2911del (p.Pro962ArgfsTer?) c.2850_2878del (p.Pro951ArgfsTer?) c.3063_3091del (p.Pro1022ArgfsTer?) | gnomAD v4 |
X | g.53235098C>A | CA413142203 | IQSEC2 | c.3747G>T (p.Arg1249Ser) c.1453+685G>T c.962+685G>T c.316+1224G>T (n.316+1224G>T) c.514+1224G>T (n.514+1224G>T) n.568G>T c.*73G>T (n.*73G>T) c.3588G>T (p.Arg1196Ser) c.3558G>T (p.Arg1186Ser) c.3684G>T (p.Arg1228Ser) c.2973G>T (p.Arg991Ser) c.3597+685G>T (n.3597+685G>T) c.3547+1224G>T (n.3547+1224G>T) c.2910G>T (p.Arg970Ser) c.2877G>T (p.Arg959Ser) c.3090G>T (p.Arg1030Ser) | |
X | g.53235098C>G | CA413142206 | IQSEC2 | c.3747G>C (p.Arg1249Ser) c.1453+685G>C c.962+685G>C c.316+1224G>C (n.316+1224G>C) c.514+1224G>C (n.514+1224G>C) n.568G>C c.*73G>C (n.*73G>C) c.3588G>C (p.Arg1196Ser) c.3558G>C (p.Arg1186Ser) c.3684G>C (p.Arg1228Ser) c.2973G>C (p.Arg991Ser) c.3597+685G>C (n.3597+685G>C) c.3547+1224G>C (n.3547+1224G>C) c.2910G>C (p.Arg970Ser) c.2877G>C (p.Arg959Ser) c.3090G>C (p.Arg1030Ser) | |
X | g.53235098C>T | CA516673974 | IQSEC2 | c.3747G>A (p.Arg1249=) c.1453+685G>A c.962+685G>A c.316+1224G>A (n.316+1224G>A) c.514+1224G>A (n.514+1224G>A) n.568G>A c.*73G>A (n.*73G>A) c.3588G>A (p.Arg1196=) c.3558G>A (p.Arg1186=) c.3684G>A (p.Arg1228=) c.2973G>A (p.Arg991=) c.3597+685G>A (n.3597+685G>A) c.3547+1224G>A (n.3547+1224G>A) c.2910G>A (p.Arg970=) c.2877G>A (p.Arg959=) c.3090G>A (p.Arg1030=) | |
X | g.53235098_53235119del | CA2693794365 | IQSEC2 | c.3726_3747del (p.Glu1243ProfsTer?) c.1453+664_1453+685del c.962+664_962+685del c.316+1203_316+1224del (n.316+1203_316+1224del) c.514+1203_514+1224del (n.514+1203_514+1224del) n.547_568del c.*52_*73del (n.*52_*73del) c.3567_3588del (p.Glu1190ProfsTer?) c.3537_3558del (p.Glu1180ProfsTer?) c.3663_3684del (p.Glu1222ProfsTer?) c.2952_2973del (p.Glu985ProfsTer?) c.3597+664_3597+685del (n.3597+664_3597+685del) c.3547+1203_3547+1224del (n.3547+1203_3547+1224del) c.2889_2910del (p.Glu964ProfsTer?) c.2856_2877del (p.Glu953ProfsTer?) c.3069_3090del (p.Glu1024ProfsTer?) | gnomAD v4 |
X | g.53235098_53235122del | CA1133160106 | IQSEC2 | c.3723_3747del (p.Glu1243SerfsTer?) c.1453+661_1453+685del c.962+661_962+685del c.316+1200_316+1224del (n.316+1200_316+1224del) c.514+1200_514+1224del (n.514+1200_514+1224del) n.544_568del c.*49_*73del (n.*49_*73del) c.3564_3588del (p.Glu1190SerfsTer?) c.3534_3558del (p.Glu1180SerfsTer?) c.3660_3684del (p.Glu1222SerfsTer?) c.2949_2973del (p.Glu985SerfsTer?) c.3597+661_3597+685del (n.3597+661_3597+685del) c.3547+1200_3547+1224del (n.3547+1200_3547+1224del) c.2886_2910del (p.Glu964SerfsTer?) c.2853_2877del (p.Glu953SerfsTer?) c.3066_3090del (p.Glu1024SerfsTer?) | gnomAD v4 |
X | g.53235098_53235125del | CA2693794370 | IQSEC2 | c.3720_3747del (p.Pro1242SerfsTer?) c.1453+658_1453+685del c.962+658_962+685del c.316+1197_316+1224del (n.316+1197_316+1224del) c.514+1197_514+1224del (n.514+1197_514+1224del) n.541_568del c.*46_*73del (n.*46_*73del) c.3561_3588del (p.Pro1189SerfsTer?) c.3531_3558del (p.Pro1179SerfsTer?) c.3657_3684del (p.Pro1221SerfsTer?) c.2946_2973del (p.Pro984SerfsTer?) c.3597+658_3597+685del (n.3597+658_3597+685del) c.3547+1197_3547+1224del (n.3547+1197_3547+1224del) c.2883_2910del (p.Pro963SerfsTer?) c.2850_2877del (p.Pro952SerfsTer?) c.3063_3090del (p.Pro1023SerfsTer?) | gnomAD v4 |
X | g.53235099C>A | CA413142210 | IQSEC2 | c.3746G>T (p.Arg1249Met) c.1453+684G>T c.962+684G>T c.316+1223G>T (n.316+1223G>T) c.514+1223G>T (n.514+1223G>T) n.567G>T c.*72G>T (n.*72G>T) c.3587G>T (p.Arg1196Met) c.3557G>T (p.Arg1186Met) c.3683G>T (p.Arg1228Met) c.2972G>T (p.Arg991Met) c.3597+684G>T (n.3597+684G>T) c.3547+1223G>T (n.3547+1223G>T) c.2909G>T (p.Arg970Met) c.2876G>T (p.Arg959Met) c.3089G>T (p.Arg1030Met) | gnomAD v4 |
X | g.53235099C>G | CA413142213 | IQSEC2 | c.3746G>C (p.Arg1249Thr) c.1453+684G>C c.962+684G>C c.316+1223G>C (n.316+1223G>C) c.514+1223G>C (n.514+1223G>C) n.567G>C c.*72G>C (n.*72G>C) c.3587G>C (p.Arg1196Thr) c.3557G>C (p.Arg1186Thr) c.3683G>C (p.Arg1228Thr) c.2972G>C (p.Arg991Thr) c.3597+684G>C (n.3597+684G>C) c.3547+1223G>C (n.3547+1223G>C) c.2909G>C (p.Arg970Thr) c.2876G>C (p.Arg959Thr) c.3089G>C (p.Arg1030Thr) | |
X | g.53235099C>T | CA413142217 | IQSEC2 | c.3746G>A (p.Arg1249Lys) c.1453+684G>A c.962+684G>A c.316+1223G>A (n.316+1223G>A) c.514+1223G>A (n.514+1223G>A) n.567G>A c.*72G>A (n.*72G>A) c.3587G>A (p.Arg1196Lys) c.3557G>A (p.Arg1186Lys) c.3683G>A (p.Arg1228Lys) c.2972G>A (p.Arg991Lys) c.3597+684G>A (n.3597+684G>A) c.3547+1223G>A (n.3547+1223G>A) c.2909G>A (p.Arg970Lys) c.2876G>A (p.Arg959Lys) c.3089G>A (p.Arg1030Lys) | |
X | g.53235101_53235102del | CA2579614735 | IQSEC2 | c.3745_3746del (p.Arg1249AlafsTer?) c.1453+683_1453+684del c.962+683_962+684del c.316+1222_316+1223del (n.316+1222_316+1223del) c.514+1222_514+1223del (n.514+1222_514+1223del) n.566_567del c.*71_*72del (n.*71_*72del) c.3586_3587del (p.Arg1196AlafsTer?) c.3556_3557del (p.Arg1186AlafsTer?) c.3682_3683del (p.Arg1228AlafsTer?) c.2971_2972del (p.Arg991AlafsTer?) c.3597+683_3597+684del (n.3597+683_3597+684del) c.3547+1222_3547+1223del (n.3547+1222_3547+1223del) c.2908_2909del (p.Arg970AlafsTer?) c.2875_2876del (p.Arg959AlafsTer?) c.3088_3089del (p.Arg1030AlafsTer?) | |
X | g.53235100T>A | CA413142222 | IQSEC2 | c.3745A>T (p.Arg1249Trp) c.1453+683A>T c.962+683A>T c.316+1222A>T (n.316+1222A>T) c.514+1222A>T (n.514+1222A>T) n.566A>T c.*71A>T (n.*71A>T) c.3586A>T (p.Arg1196Trp) c.3556A>T (p.Arg1186Trp) c.3682A>T (p.Arg1228Trp) c.2971A>T (p.Arg991Trp) c.3597+683A>T (n.3597+683A>T) c.3547+1222A>T (n.3547+1222A>T) c.2908A>T (p.Arg970Trp) c.2875A>T (p.Arg959Trp) c.3088A>T (p.Arg1030Trp) | |
X | g.53235100T>C | CA413142224 | IQSEC2 | c.3745A>G (p.Arg1249Gly) c.1453+683A>G c.962+683A>G c.316+1222A>G (n.316+1222A>G) c.514+1222A>G (n.514+1222A>G) n.566A>G c.*71A>G (n.*71A>G) c.3586A>G (p.Arg1196Gly) c.3556A>G (p.Arg1186Gly) c.3682A>G (p.Arg1228Gly) c.2971A>G (p.Arg991Gly) c.3597+683A>G (n.3597+683A>G) c.3547+1222A>G (n.3547+1222A>G) c.2908A>G (p.Arg970Gly) c.2875A>G (p.Arg959Gly) c.3088A>G (p.Arg1030Gly) | |
X | g.53235100T>G | CA516673978 | IQSEC2 | c.3745A>C (p.Arg1249=) c.1453+683A>C c.962+683A>C c.316+1222A>C (n.316+1222A>C) c.514+1222A>C (n.514+1222A>C) n.566A>C c.*71A>C (n.*71A>C) c.3586A>C (p.Arg1196=) c.3556A>C (p.Arg1186=) c.3682A>C (p.Arg1228=) c.2971A>C (p.Arg991=) c.3597+683A>C (n.3597+683A>C) c.3547+1222A>C (n.3547+1222A>C) c.2908A>C (p.Arg970=) c.2875A>C (p.Arg959=) c.3088A>C (p.Arg1030=) | |
X | g.53235101C>A | CA413142231 | IQSEC2 | c.3744G>T (p.Gln1248His) c.1453+682G>T c.962+682G>T c.316+1221G>T (n.316+1221G>T) c.514+1221G>T (n.514+1221G>T) n.565G>T c.*70G>T (n.*70G>T) c.3585G>T (p.Gln1195His) c.3555G>T (p.Gln1185His) c.3681G>T (p.Gln1227His) c.2970G>T (p.Gln990His) c.3597+682G>T (n.3597+682G>T) c.3547+1221G>T (n.3547+1221G>T) c.2907G>T (p.Gln969His) c.2874G>T (p.Gln958His) c.3087G>T (p.Gln1029His) | |
X | g.53235101C>G | CA413142228 | IQSEC2 | c.3744G>C (p.Gln1248His) c.1453+682G>C c.962+682G>C c.316+1221G>C (n.316+1221G>C) c.514+1221G>C (n.514+1221G>C) n.565G>C c.*70G>C (n.*70G>C) c.3585G>C (p.Gln1195His) c.3555G>C (p.Gln1185His) c.3681G>C (p.Gln1227His) c.2970G>C (p.Gln990His) c.3597+682G>C (n.3597+682G>C) c.3547+1221G>C (n.3547+1221G>C) c.2907G>C (p.Gln969His) c.2874G>C (p.Gln958His) c.3087G>C (p.Gln1029His) | |
X | g.53235101C>T | CA516673979 | IQSEC2 | c.3744G>A (p.Gln1248=) c.1453+682G>A c.962+682G>A c.316+1221G>A (n.316+1221G>A) c.514+1221G>A (n.514+1221G>A) n.565G>A c.*70G>A (n.*70G>A) c.3585G>A (p.Gln1195=) c.3555G>A (p.Gln1185=) c.3681G>A (p.Gln1227=) c.2970G>A (p.Gln990=) c.3597+682G>A (n.3597+682G>A) c.3547+1221G>A (n.3547+1221G>A) c.2907G>A (p.Gln969=) c.2874G>A (p.Gln958=) c.3087G>A (p.Gln1029=) | |
X | g.53235102T>A | CA413142233 | IQSEC2 | c.3743A>T (p.Gln1248Leu) c.1453+681A>T c.962+681A>T c.316+1220A>T (n.316+1220A>T) c.514+1220A>T (n.514+1220A>T) n.564A>T c.*69A>T (n.*69A>T) c.3584A>T (p.Gln1195Leu) c.3554A>T (p.Gln1185Leu) c.3680A>T (p.Gln1227Leu) c.2969A>T (p.Gln990Leu) c.3597+681A>T (n.3597+681A>T) c.3547+1220A>T (n.3547+1220A>T) c.2906A>T (p.Gln969Leu) c.2873A>T (p.Gln958Leu) c.3086A>T (p.Gln1029Leu) | |
X | g.53235102T>C | CA413142241 | IQSEC2 | c.3743A>G (p.Gln1248Arg) c.1453+681A>G c.962+681A>G c.316+1220A>G (n.316+1220A>G) c.514+1220A>G (n.514+1220A>G) n.564A>G c.*69A>G (n.*69A>G) c.3584A>G (p.Gln1195Arg) c.3554A>G (p.Gln1185Arg) c.3680A>G (p.Gln1227Arg) c.2969A>G (p.Gln990Arg) c.3597+681A>G (n.3597+681A>G) c.3547+1220A>G (n.3547+1220A>G) c.2906A>G (p.Gln969Arg) c.2873A>G (p.Gln958Arg) c.3086A>G (p.Gln1029Arg) | |
X | g.53235102T>G | CA413142238 | IQSEC2 | c.3743A>C (p.Gln1248Pro) c.1453+681A>C c.962+681A>C c.316+1220A>C (n.316+1220A>C) c.514+1220A>C (n.514+1220A>C) n.564A>C c.*69A>C (n.*69A>C) c.3584A>C (p.Gln1195Pro) c.3554A>C (p.Gln1185Pro) c.3680A>C (p.Gln1227Pro) c.2969A>C (p.Gln990Pro) c.3597+681A>C (n.3597+681A>C) c.3547+1220A>C (n.3547+1220A>C) c.2906A>C (p.Gln969Pro) c.2873A>C (p.Gln958Pro) c.3086A>C (p.Gln1029Pro) | |
X | g.53235103G>A | CA413142246 | IQSEC2 | c.3742C>T (p.Gln1248Ter) c.1453+680C>T c.962+680C>T c.316+1219C>T (n.316+1219C>T) c.514+1219C>T (n.514+1219C>T) n.563C>T c.*68C>T (n.*68C>T) c.3583C>T (p.Gln1195Ter) c.3553C>T (p.Gln1185Ter) c.3679C>T (p.Gln1227Ter) c.2968C>T (p.Gln990Ter) c.3597+680C>T (n.3597+680C>T) c.3547+1219C>T (n.3547+1219C>T) c.2905C>T (p.Gln969Ter) c.2872C>T (p.Gln958Ter) c.3085C>T (p.Gln1029Ter) | |
X | g.53235103G>C | CA413142251 | IQSEC2 | c.3742C>G (p.Gln1248Glu) c.1453+680C>G c.962+680C>G c.316+1219C>G (n.316+1219C>G) c.514+1219C>G (n.514+1219C>G) n.563C>G c.*68C>G (n.*68C>G) c.3583C>G (p.Gln1195Glu) c.3553C>G (p.Gln1185Glu) c.3679C>G (p.Gln1227Glu) c.2968C>G (p.Gln990Glu) c.3597+680C>G (n.3597+680C>G) c.3547+1219C>G (n.3547+1219C>G) c.2905C>G (p.Gln969Glu) c.2872C>G (p.Gln958Glu) c.3085C>G (p.Gln1029Glu) | |
X | g.53235103G>T | CA413142249 | IQSEC2 | c.3742C>A (p.Gln1248Lys) c.1453+680C>A c.962+680C>A c.316+1219C>A (n.316+1219C>A) c.514+1219C>A (n.514+1219C>A) n.563C>A c.*68C>A (n.*68C>A) c.3583C>A (p.Gln1195Lys) c.3553C>A (p.Gln1185Lys) c.3679C>A (p.Gln1227Lys) c.2968C>A (p.Gln990Lys) c.3597+680C>A (n.3597+680C>A) c.3547+1219C>A (n.3547+1219C>A) c.2905C>A (p.Gln969Lys) c.2872C>A (p.Gln958Lys) c.3085C>A (p.Gln1029Lys) | |
X | g.53235104G>A | CA516673986 | IQSEC2 | c.3741C>T (p.Ser1247=) c.1453+679C>T c.962+679C>T c.316+1218C>T (n.316+1218C>T) c.514+1218C>T (n.514+1218C>T) n.562C>T c.*67C>T (n.*67C>T) c.3582C>T (p.Ser1194=) c.3552C>T (p.Ser1184=) c.3678C>T (p.Ser1226=) c.2967C>T (p.Ser989=) c.3597+679C>T (n.3597+679C>T) c.3547+1218C>T (n.3547+1218C>T) c.2904C>T (p.Ser968=) c.2871C>T (p.Ser957=) c.3084C>T (p.Ser1028=) | gnomAD v4 |
X | g.53235104G>C | CA413142253 | IQSEC2 | c.3741C>G (p.Ser1247Arg) c.1453+679C>G c.962+679C>G c.316+1218C>G (n.316+1218C>G) c.514+1218C>G (n.514+1218C>G) n.562C>G c.*67C>G (n.*67C>G) c.3582C>G (p.Ser1194Arg) c.3552C>G (p.Ser1184Arg) c.3678C>G (p.Ser1226Arg) c.2967C>G (p.Ser989Arg) c.3597+679C>G (n.3597+679C>G) c.3547+1218C>G (n.3547+1218C>G) c.2904C>G (p.Ser968Arg) c.2871C>G (p.Ser957Arg) c.3084C>G (p.Ser1028Arg) | |
X | g.53235104G>T | CA413142255 | IQSEC2 | c.3741C>A (p.Ser1247Arg) c.1453+679C>A c.962+679C>A c.316+1218C>A (n.316+1218C>A) c.514+1218C>A (n.514+1218C>A) n.562C>A c.*67C>A (n.*67C>A) c.3582C>A (p.Ser1194Arg) c.3552C>A (p.Ser1184Arg) c.3678C>A (p.Ser1226Arg) c.2967C>A (p.Ser989Arg) c.3597+679C>A (n.3597+679C>A) c.3547+1218C>A (n.3547+1218C>A) c.2904C>A (p.Ser968Arg) c.2871C>A (p.Ser957Arg) c.3084C>A (p.Ser1028Arg) | |
X | g.53235105C>A | CA413142259 | IQSEC2 | c.3740G>T (p.Ser1247Ile) c.1453+678G>T c.962+678G>T c.316+1217G>T (n.316+1217G>T) c.514+1217G>T (n.514+1217G>T) n.561G>T c.*66G>T (n.*66G>T) c.3581G>T (p.Ser1194Ile) c.3551G>T (p.Ser1184Ile) c.3677G>T (p.Ser1226Ile) c.2966G>T (p.Ser989Ile) c.3597+678G>T (n.3597+678G>T) c.3547+1217G>T (n.3547+1217G>T) c.2903G>T (p.Ser968Ile) c.2870G>T (p.Ser957Ile) c.3083G>T (p.Ser1028Ile) | |
X | g.53235105C>G | CA413142263 | IQSEC2 | c.3740G>C (p.Ser1247Thr) c.1453+678G>C c.962+678G>C c.316+1217G>C (n.316+1217G>C) c.514+1217G>C (n.514+1217G>C) n.561G>C c.*66G>C (n.*66G>C) c.3581G>C (p.Ser1194Thr) c.3551G>C (p.Ser1184Thr) c.3677G>C (p.Ser1226Thr) c.2966G>C (p.Ser989Thr) c.3597+678G>C (n.3597+678G>C) c.3547+1217G>C (n.3547+1217G>C) c.2903G>C (p.Ser968Thr) c.2870G>C (p.Ser957Thr) c.3083G>C (p.Ser1028Thr) | gnomAD v4 |
X | g.53235105C>T | CA413142266 | IQSEC2 | c.3740G>A (p.Ser1247Asn) c.1453+678G>A c.962+678G>A c.316+1217G>A (n.316+1217G>A) c.514+1217G>A (n.514+1217G>A) n.561G>A c.*66G>A (n.*66G>A) c.3581G>A (p.Ser1194Asn) c.3551G>A (p.Ser1184Asn) c.3677G>A (p.Ser1226Asn) c.2966G>A (p.Ser989Asn) c.3597+678G>A (n.3597+678G>A) c.3547+1217G>A (n.3547+1217G>A) c.2903G>A (p.Ser968Asn) c.2870G>A (p.Ser957Asn) c.3083G>A (p.Ser1028Asn) | gnomAD v4 |
X | g.53235106T>A | CA413142271 | IQSEC2 | c.3739A>T (p.Ser1247Cys) c.1453+677A>T c.962+677A>T c.316+1216A>T (n.316+1216A>T) c.514+1216A>T (n.514+1216A>T) n.560A>T c.*65A>T (n.*65A>T) c.3580A>T (p.Ser1194Cys) c.3550A>T (p.Ser1184Cys) c.3676A>T (p.Ser1226Cys) c.2965A>T (p.Ser989Cys) c.3597+677A>T (n.3597+677A>T) c.3547+1216A>T (n.3547+1216A>T) c.2902A>T (p.Ser968Cys) c.2869A>T (p.Ser957Cys) c.3082A>T (p.Ser1028Cys) | |
X | g.53235106T>C | CA413142274 | IQSEC2 | c.3739A>G (p.Ser1247Gly) c.1453+677A>G c.962+677A>G c.316+1216A>G (n.316+1216A>G) c.514+1216A>G (n.514+1216A>G) n.560A>G c.*65A>G (n.*65A>G) c.3580A>G (p.Ser1194Gly) c.3550A>G (p.Ser1184Gly) c.3676A>G (p.Ser1226Gly) c.2965A>G (p.Ser989Gly) c.3597+677A>G (n.3597+677A>G) c.3547+1216A>G (n.3547+1216A>G) c.2902A>G (p.Ser968Gly) c.2869A>G (p.Ser957Gly) c.3082A>G (p.Ser1028Gly) | |
X | g.53235106T>G | CA413142277 | IQSEC2 | c.3739A>C (p.Ser1247Arg) c.1453+677A>C c.962+677A>C c.316+1216A>C (n.316+1216A>C) c.514+1216A>C (n.514+1216A>C) n.560A>C c.*65A>C (n.*65A>C) c.3580A>C (p.Ser1194Arg) c.3550A>C (p.Ser1184Arg) c.3676A>C (p.Ser1226Arg) c.2965A>C (p.Ser989Arg) c.3597+677A>C (n.3597+677A>C) c.3547+1216A>C (n.3547+1216A>C) c.2902A>C (p.Ser968Arg) c.2869A>C (p.Ser957Arg) c.3082A>C (p.Ser1028Arg) | |
X | g.53235107C>A | CA413142279 | IQSEC2 | c.3738G>T (p.Lys1246Asn) c.1453+676G>T c.962+676G>T c.316+1215G>T (n.316+1215G>T) c.514+1215G>T (n.514+1215G>T) n.559G>T c.*64G>T (n.*64G>T) c.3579G>T (p.Lys1193Asn) c.3549G>T (p.Lys1183Asn) c.3675G>T (p.Lys1225Asn) c.2964G>T (p.Lys988Asn) c.3597+676G>T (n.3597+676G>T) c.3547+1215G>T (n.3547+1215G>T) c.2901G>T (p.Lys967Asn) c.2868G>T (p.Lys956Asn) c.3081G>T (p.Lys1027Asn) | |
X | g.53235107C>G | CA413142283 | IQSEC2 | c.3738G>C (p.Lys1246Asn) c.1453+676G>C c.962+676G>C c.316+1215G>C (n.316+1215G>C) c.514+1215G>C (n.514+1215G>C) n.559G>C c.*64G>C (n.*64G>C) c.3579G>C (p.Lys1193Asn) c.3549G>C (p.Lys1183Asn) c.3675G>C (p.Lys1225Asn) c.2964G>C (p.Lys988Asn) c.3597+676G>C (n.3597+676G>C) c.3547+1215G>C (n.3547+1215G>C) c.2901G>C (p.Lys967Asn) c.2868G>C (p.Lys956Asn) c.3081G>C (p.Lys1027Asn) | |
X | g.53235107C>T | CA516673991 | IQSEC2 | c.3738G>A (p.Lys1246=) c.1453+676G>A c.962+676G>A c.316+1215G>A (n.316+1215G>A) c.514+1215G>A (n.514+1215G>A) n.559G>A c.*64G>A (n.*64G>A) c.3579G>A (p.Lys1193=) c.3549G>A (p.Lys1183=) c.3675G>A (p.Lys1225=) c.2964G>A (p.Lys988=) c.3597+676G>A (n.3597+676G>A) c.3547+1215G>A (n.3547+1215G>A) c.2901G>A (p.Lys967=) c.2868G>A (p.Lys956=) c.3081G>A (p.Lys1027=) | gnomAD v4 |
X | g.53235108T>A | CA413142288 | IQSEC2 | c.3737A>T (p.Lys1246Met) c.1453+675A>T c.962+675A>T c.316+1214A>T (n.316+1214A>T) c.514+1214A>T (n.514+1214A>T) n.558A>T c.*63A>T (n.*63A>T) c.3578A>T (p.Lys1193Met) c.3548A>T (p.Lys1183Met) c.3674A>T (p.Lys1225Met) c.2963A>T (p.Lys988Met) c.3597+675A>T (n.3597+675A>T) c.3547+1214A>T (n.3547+1214A>T) c.2900A>T (p.Lys967Met) c.2867A>T (p.Lys956Met) c.3080A>T (p.Lys1027Met) | |
X | g.53235108T>C | CA413142289 | IQSEC2 | c.3737A>G (p.Lys1246Arg) c.1453+675A>G c.962+675A>G c.316+1214A>G (n.316+1214A>G) c.514+1214A>G (n.514+1214A>G) n.558A>G c.*63A>G (n.*63A>G) c.3578A>G (p.Lys1193Arg) c.3548A>G (p.Lys1183Arg) c.3674A>G (p.Lys1225Arg) c.2963A>G (p.Lys988Arg) c.3597+675A>G (n.3597+675A>G) c.3547+1214A>G (n.3547+1214A>G) c.2900A>G (p.Lys967Arg) c.2867A>G (p.Lys956Arg) c.3080A>G (p.Lys1027Arg) | |
X | g.53235108T>G | CA413142292 | IQSEC2 | c.3737A>C (p.Lys1246Thr) c.1453+675A>C c.962+675A>C c.316+1214A>C (n.316+1214A>C) c.514+1214A>C (n.514+1214A>C) n.558A>C c.*63A>C (n.*63A>C) c.3578A>C (p.Lys1193Thr) c.3548A>C (p.Lys1183Thr) c.3674A>C (p.Lys1225Thr) c.2963A>C (p.Lys988Thr) c.3597+675A>C (n.3597+675A>C) c.3547+1214A>C (n.3547+1214A>C) c.2900A>C (p.Lys967Thr) c.2867A>C (p.Lys956Thr) c.3080A>C (p.Lys1027Thr) | |
X | g.53235109T>A | CA413142295 | IQSEC2 | c.3736A>T (p.Lys1246Ter) c.1453+674A>T c.962+674A>T c.316+1213A>T (n.316+1213A>T) c.514+1213A>T (n.514+1213A>T) n.557A>T c.*62A>T (n.*62A>T) c.3577A>T (p.Lys1193Ter) c.3547A>T (p.Lys1183Ter) c.3673A>T (p.Lys1225Ter) c.2962A>T (p.Lys988Ter) c.3597+674A>T (n.3597+674A>T) c.3547+1213A>T (n.3547+1213A>T) c.2899A>T (p.Lys967Ter) c.2866A>T (p.Lys956Ter) c.3079A>T (p.Lys1027Ter) | |
X | g.53235109T>C | CA413142299 | IQSEC2 | c.3736A>G (p.Lys1246Glu) c.1453+674A>G c.962+674A>G c.316+1213A>G (n.316+1213A>G) c.514+1213A>G (n.514+1213A>G) n.557A>G c.*62A>G (n.*62A>G) c.3577A>G (p.Lys1193Glu) c.3547A>G (p.Lys1183Glu) c.3673A>G (p.Lys1225Glu) c.2962A>G (p.Lys988Glu) c.3597+674A>G (n.3597+674A>G) c.3547+1213A>G (n.3547+1213A>G) c.2899A>G (p.Lys967Glu) c.2866A>G (p.Lys956Glu) c.3079A>G (p.Lys1027Glu) | |
X | g.53235109T>G | CA413142297 | IQSEC2 | c.3736A>C (p.Lys1246Gln) c.1453+674A>C c.962+674A>C c.316+1213A>C (n.316+1213A>C) c.514+1213A>C (n.514+1213A>C) n.557A>C c.*62A>C (n.*62A>C) c.3577A>C (p.Lys1193Gln) c.3547A>C (p.Lys1183Gln) c.3673A>C (p.Lys1225Gln) c.2962A>C (p.Lys988Gln) c.3597+674A>C (n.3597+674A>C) c.3547+1213A>C (n.3547+1213A>C) c.2899A>C (p.Lys967Gln) c.2866A>C (p.Lys956Gln) c.3079A>C (p.Lys1027Gln) | |
X | g.53235110G>A | CA516673996 | IQSEC2 | c.3735C>T (p.Tyr1245=) c.1453+673C>T c.962+673C>T c.316+1212C>T (n.316+1212C>T) c.514+1212C>T (n.514+1212C>T) n.556C>T c.*61C>T (n.*61C>T) c.3576C>T (p.Tyr1192=) c.3546C>T (p.Tyr1182=) c.3672C>T (p.Tyr1224=) c.2961C>T (p.Tyr987=) c.3597+673C>T (n.3597+673C>T) c.3547+1212C>T (n.3547+1212C>T) c.2898C>T (p.Tyr966=) c.2865C>T (p.Tyr955=) c.3078C>T (p.Tyr1026=) | |
X | g.53235110G>C | CA413142301 | IQSEC2 | c.3735C>G (p.Tyr1245Ter) c.1453+673C>G c.962+673C>G c.316+1212C>G (n.316+1212C>G) c.514+1212C>G (n.514+1212C>G) n.556C>G c.*61C>G (n.*61C>G) c.3576C>G (p.Tyr1192Ter) c.3546C>G (p.Tyr1182Ter) c.3672C>G (p.Tyr1224Ter) c.2961C>G (p.Tyr987Ter) c.3597+673C>G (n.3597+673C>G) c.3547+1212C>G (n.3547+1212C>G) c.2898C>G (p.Tyr966Ter) c.2865C>G (p.Tyr955Ter) c.3078C>G (p.Tyr1026Ter) | |
X | g.53235110G>T | CA413142304 | IQSEC2 | c.3735C>A (p.Tyr1245Ter) c.1453+673C>A c.962+673C>A c.316+1212C>A (n.316+1212C>A) c.514+1212C>A (n.514+1212C>A) n.556C>A c.*61C>A (n.*61C>A) c.3576C>A (p.Tyr1192Ter) c.3546C>A (p.Tyr1182Ter) c.3672C>A (p.Tyr1224Ter) c.2961C>A (p.Tyr987Ter) c.3597+673C>A (n.3597+673C>A) c.3547+1212C>A (n.3547+1212C>A) c.2898C>A (p.Tyr966Ter) c.2865C>A (p.Tyr955Ter) c.3078C>A (p.Tyr1026Ter) | gnomAD v4 |
X | g.53235111T>A | CA413142308 | IQSEC2 | c.3734A>T (p.Tyr1245Phe) c.1453+672A>T c.962+672A>T c.316+1211A>T (n.316+1211A>T) c.514+1211A>T (n.514+1211A>T) n.555A>T c.*60A>T (n.*60A>T) c.3575A>T (p.Tyr1192Phe) c.3545A>T (p.Tyr1182Phe) c.3671A>T (p.Tyr1224Phe) c.2960A>T (p.Tyr987Phe) c.3597+672A>T (n.3597+672A>T) c.3547+1211A>T (n.3547+1211A>T) c.2897A>T (p.Tyr966Phe) c.2864A>T (p.Tyr955Phe) c.3077A>T (p.Tyr1026Phe) | gnomAD v4 |
X | g.53235111T>C | CA413142311 | IQSEC2 | c.3734A>G (p.Tyr1245Cys) c.1453+672A>G c.962+672A>G c.316+1211A>G (n.316+1211A>G) c.514+1211A>G (n.514+1211A>G) n.555A>G c.*60A>G (n.*60A>G) c.3575A>G (p.Tyr1192Cys) c.3545A>G (p.Tyr1182Cys) c.3671A>G (p.Tyr1224Cys) c.2960A>G (p.Tyr987Cys) c.3597+672A>G (n.3597+672A>G) c.3547+1211A>G (n.3547+1211A>G) c.2897A>G (p.Tyr966Cys) c.2864A>G (p.Tyr955Cys) c.3077A>G (p.Tyr1026Cys) | |
X | g.53235111T>G | CA413142314 | IQSEC2 | c.3734A>C (p.Tyr1245Ser) c.1453+672A>C c.962+672A>C c.316+1211A>C (n.316+1211A>C) c.514+1211A>C (n.514+1211A>C) n.555A>C c.*60A>C (n.*60A>C) c.3575A>C (p.Tyr1192Ser) c.3545A>C (p.Tyr1182Ser) c.3671A>C (p.Tyr1224Ser) c.2960A>C (p.Tyr987Ser) c.3597+672A>C (n.3597+672A>C) c.3547+1211A>C (n.3547+1211A>C) c.2897A>C (p.Tyr966Ser) c.2864A>C (p.Tyr955Ser) c.3077A>C (p.Tyr1026Ser) | |
X | g.53235112A= | CA2429770692 | IQSEC2 | c.3733T= (p.Tyr1245=) c.1453+671T= c.962+671T= c.316+1210T= (n.316+1210T=) c.514+1210T= (n.514+1210T=) n.554T= c.*59T= (n.*59T=) c.3574T= (p.Tyr1192=) c.3544T= (p.Tyr1182=) c.3670T= (p.Tyr1224=) c.2959T= (p.Tyr987=) c.3597+671T= (n.3597+671T=) c.3547+1210T= (n.3547+1210T=) c.2896T= (p.Tyr966=) c.2863T= (p.Tyr955=) c.3076T= (p.Tyr1026=) | |
X | g.53235112A>C | CA413142325 | IQSEC2 | c.3733T>G (p.Tyr1245Asp) c.1453+671T>G c.962+671T>G c.316+1210T>G (n.316+1210T>G) c.514+1210T>G (n.514+1210T>G) n.554T>G c.*59T>G (n.*59T>G) c.3574T>G (p.Tyr1192Asp) c.3544T>G (p.Tyr1182Asp) c.3670T>G (p.Tyr1224Asp) c.2959T>G (p.Tyr987Asp) c.3597+671T>G (n.3597+671T>G) c.3547+1210T>G (n.3547+1210T>G) c.2896T>G (p.Tyr966Asp) c.2863T>G (p.Tyr955Asp) c.3076T>G (p.Tyr1026Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235112A>G | CA413142334 | IQSEC2 | c.3733T>C (p.Tyr1245His) c.1453+671T>C c.962+671T>C c.316+1210T>C (n.316+1210T>C) c.514+1210T>C (n.514+1210T>C) n.554T>C c.*59T>C (n.*59T>C) c.3574T>C (p.Tyr1192His) c.3544T>C (p.Tyr1182His) c.3670T>C (p.Tyr1224His) c.2959T>C (p.Tyr987His) c.3597+671T>C (n.3597+671T>C) c.3547+1210T>C (n.3547+1210T>C) c.2896T>C (p.Tyr966His) c.2863T>C (p.Tyr955His) c.3076T>C (p.Tyr1026His) | |
X | g.53235112A>T | CA413142338 | IQSEC2 | c.3733T>A (p.Tyr1245Asn) c.1453+671T>A c.962+671T>A c.316+1210T>A (n.316+1210T>A) c.514+1210T>A (n.514+1210T>A) n.554T>A c.*59T>A (n.*59T>A) c.3574T>A (p.Tyr1192Asn) c.3544T>A (p.Tyr1182Asn) c.3670T>A (p.Tyr1224Asn) c.2959T>A (p.Tyr987Asn) c.3597+671T>A (n.3597+671T>A) c.3547+1210T>A (n.3547+1210T>A) c.2896T>A (p.Tyr966Asn) c.2863T>A (p.Tyr955Asn) c.3076T>A (p.Tyr1026Asn) | dbSNP gnomAD v2 |
X | g.53235113C>A | CA413142346 | IQSEC2 | c.3732G>T (p.Glu1244Asp) c.1453+670G>T c.962+670G>T c.316+1209G>T (n.316+1209G>T) c.514+1209G>T (n.514+1209G>T) n.553G>T c.*58G>T (n.*58G>T) c.3573G>T (p.Glu1191Asp) c.3543G>T (p.Glu1181Asp) c.3669G>T (p.Glu1223Asp) c.2958G>T (p.Glu986Asp) c.3597+670G>T (n.3597+670G>T) c.3547+1209G>T (n.3547+1209G>T) c.2895G>T (p.Glu965Asp) c.2862G>T (p.Glu954Asp) c.3075G>T (p.Glu1025Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235113C= | CA2429770693 | IQSEC2 | c.3732G= (p.Glu1244=) c.1453+670G= c.962+670G= c.316+1209G= (n.316+1209G=) c.514+1209G= (n.514+1209G=) n.553G= c.*58G= (n.*58G=) c.3573G= (p.Glu1191=) c.3543G= (p.Glu1181=) c.3669G= (p.Glu1223=) c.2958G= (p.Glu986=) c.3597+670G= (n.3597+670G=) c.3547+1209G= (n.3547+1209G=) c.2895G= (p.Glu965=) c.2862G= (p.Glu954=) c.3075G= (p.Glu1025=) | |
X | g.53235113C>G | CA413142348 | IQSEC2 | c.3732G>C (p.Glu1244Asp) c.1453+670G>C c.962+670G>C c.316+1209G>C (n.316+1209G>C) c.514+1209G>C (n.514+1209G>C) n.553G>C c.*58G>C (n.*58G>C) c.3573G>C (p.Glu1191Asp) c.3543G>C (p.Glu1181Asp) c.3669G>C (p.Glu1223Asp) c.2958G>C (p.Glu986Asp) c.3597+670G>C (n.3597+670G>C) c.3547+1209G>C (n.3547+1209G>C) c.2895G>C (p.Glu965Asp) c.2862G>C (p.Glu954Asp) c.3075G>C (p.Glu1025Asp) | gnomAD v4 |
X | g.53235113C>T | CA516674001 | IQSEC2 | c.3732G>A (p.Glu1244=) c.1453+670G>A c.962+670G>A c.316+1209G>A (n.316+1209G>A) c.514+1209G>A (n.514+1209G>A) n.553G>A c.*58G>A (n.*58G>A) c.3573G>A (p.Glu1191=) c.3543G>A (p.Glu1181=) c.3669G>A (p.Glu1223=) c.2958G>A (p.Glu986=) c.3597+670G>A (n.3597+670G>A) c.3547+1209G>A (n.3547+1209G>A) c.2895G>A (p.Glu965=) c.2862G>A (p.Glu954=) c.3075G>A (p.Glu1025=) | ClinVar dbSNP gnomAD v4 |
X | g.53235114T>A | CA413142354 | IQSEC2 | c.3731A>T (p.Glu1244Val) c.1453+669A>T c.962+669A>T c.316+1208A>T (n.316+1208A>T) c.514+1208A>T (n.514+1208A>T) n.552A>T c.*57A>T (n.*57A>T) c.3572A>T (p.Glu1191Val) c.3542A>T (p.Glu1181Val) c.3668A>T (p.Glu1223Val) c.2957A>T (p.Glu986Val) c.3597+669A>T (n.3597+669A>T) c.3547+1208A>T (n.3547+1208A>T) c.2894A>T (p.Glu965Val) c.2861A>T (p.Glu954Val) c.3074A>T (p.Glu1025Val) | |
X | g.53235114T>C | CA413142353 | IQSEC2 | c.3731A>G (p.Glu1244Gly) c.1453+669A>G c.962+669A>G c.316+1208A>G (n.316+1208A>G) c.514+1208A>G (n.514+1208A>G) n.552A>G c.*57A>G (n.*57A>G) c.3572A>G (p.Glu1191Gly) c.3542A>G (p.Glu1181Gly) c.3668A>G (p.Glu1223Gly) c.2957A>G (p.Glu986Gly) c.3597+669A>G (n.3597+669A>G) c.3547+1208A>G (n.3547+1208A>G) c.2894A>G (p.Glu965Gly) c.2861A>G (p.Glu954Gly) c.3074A>G (p.Glu1025Gly) | gnomAD v3 gnomAD v4 |
X | g.53235114T>G | CA413142351 | IQSEC2 | c.3731A>C (p.Glu1244Ala) c.1453+669A>C c.962+669A>C c.316+1208A>C (n.316+1208A>C) c.514+1208A>C (n.514+1208A>C) n.552A>C c.*57A>C (n.*57A>C) c.3572A>C (p.Glu1191Ala) c.3542A>C (p.Glu1181Ala) c.3668A>C (p.Glu1223Ala) c.2957A>C (p.Glu986Ala) c.3597+669A>C (n.3597+669A>C) c.3547+1208A>C (n.3547+1208A>C) c.2894A>C (p.Glu965Ala) c.2861A>C (p.Glu954Ala) c.3074A>C (p.Glu1025Ala) | gnomAD v4 |
X | g.53235115C>A | CA413142358 | IQSEC2 | c.3730G>T (p.Glu1244Ter) c.1453+668G>T c.962+668G>T c.316+1207G>T (n.316+1207G>T) c.514+1207G>T (n.514+1207G>T) n.551G>T c.*56G>T (n.*56G>T) c.3571G>T (p.Glu1191Ter) c.3541G>T (p.Glu1181Ter) c.3667G>T (p.Glu1223Ter) c.2956G>T (p.Glu986Ter) c.3597+668G>T (n.3597+668G>T) c.3547+1207G>T (n.3547+1207G>T) c.2893G>T (p.Glu965Ter) c.2860G>T (p.Glu954Ter) c.3073G>T (p.Glu1025Ter) | |
X | g.53235115C>G | CA413142356 | IQSEC2 | c.3730G>C (p.Glu1244Gln) c.1453+668G>C c.962+668G>C c.316+1207G>C (n.316+1207G>C) c.514+1207G>C (n.514+1207G>C) n.551G>C c.*56G>C (n.*56G>C) c.3571G>C (p.Glu1191Gln) c.3541G>C (p.Glu1181Gln) c.3667G>C (p.Glu1223Gln) c.2956G>C (p.Glu986Gln) c.3597+668G>C (n.3597+668G>C) c.3547+1207G>C (n.3547+1207G>C) c.2893G>C (p.Glu965Gln) c.2860G>C (p.Glu954Gln) c.3073G>C (p.Glu1025Gln) | |
X | g.53235115C>T | CA413142357 | IQSEC2 | c.3730G>A (p.Glu1244Lys) c.1453+668G>A c.962+668G>A c.316+1207G>A (n.316+1207G>A) c.514+1207G>A (n.514+1207G>A) n.551G>A c.*56G>A (n.*56G>A) c.3571G>A (p.Glu1191Lys) c.3541G>A (p.Glu1181Lys) c.3667G>A (p.Glu1223Lys) c.2956G>A (p.Glu986Lys) c.3597+668G>A (n.3597+668G>A) c.3547+1207G>A (n.3547+1207G>A) c.2893G>A (p.Glu965Lys) c.2860G>A (p.Glu954Lys) c.3073G>A (p.Glu1025Lys) | |
X | g.53235116C>A | CA413142361 | IQSEC2 | c.3729G>T (p.Glu1243Asp) c.1453+667G>T c.962+667G>T c.316+1206G>T (n.316+1206G>T) c.514+1206G>T (n.514+1206G>T) n.550G>T c.*55G>T (n.*55G>T) c.3570G>T (p.Glu1190Asp) c.3540G>T (p.Glu1180Asp) c.3666G>T (p.Glu1222Asp) c.2955G>T (p.Glu985Asp) c.3597+667G>T (n.3597+667G>T) c.3547+1206G>T (n.3547+1206G>T) c.2892G>T (p.Glu964Asp) c.2859G>T (p.Glu953Asp) c.3072G>T (p.Glu1024Asp) | gnomAD v4 |
X | g.53235116C>G | CA413142362 | IQSEC2 | c.3729G>C (p.Glu1243Asp) c.1453+667G>C c.962+667G>C c.316+1206G>C (n.316+1206G>C) c.514+1206G>C (n.514+1206G>C) n.550G>C c.*55G>C (n.*55G>C) c.3570G>C (p.Glu1190Asp) c.3540G>C (p.Glu1180Asp) c.3666G>C (p.Glu1222Asp) c.2955G>C (p.Glu985Asp) c.3597+667G>C (n.3597+667G>C) c.3547+1206G>C (n.3547+1206G>C) c.2892G>C (p.Glu964Asp) c.2859G>C (p.Glu953Asp) c.3072G>C (p.Glu1024Asp) | gnomAD v4 |
X | g.53235116C>T | CA516674007 | IQSEC2 | c.3729G>A (p.Glu1243=) c.1453+667G>A c.962+667G>A c.316+1206G>A (n.316+1206G>A) c.514+1206G>A (n.514+1206G>A) n.550G>A c.*55G>A (n.*55G>A) c.3570G>A (p.Glu1190=) c.3540G>A (p.Glu1180=) c.3666G>A (p.Glu1222=) c.2955G>A (p.Glu985=) c.3597+667G>A (n.3597+667G>A) c.3547+1206G>A (n.3547+1206G>A) c.2892G>A (p.Glu964=) c.2859G>A (p.Glu953=) c.3072G>A (p.Glu1024=) | ClinVar gnomAD v4 |
X | g.53235118_53235119del | CA2693794405 | IQSEC2 | c.3728_3729del (p.Glu1243GlyfsTer?) c.1453+666_1453+667del c.962+666_962+667del c.316+1205_316+1206del (n.316+1205_316+1206del) c.514+1205_514+1206del (n.514+1205_514+1206del) n.549_550del c.*54_*55del (n.*54_*55del) c.3569_3570del (p.Glu1190GlyfsTer?) c.3539_3540del (p.Glu1180GlyfsTer?) c.3665_3666del (p.Glu1222GlyfsTer?) c.2954_2955del (p.Glu985GlyfsTer?) c.3597+666_3597+667del (n.3597+666_3597+667del) c.3547+1205_3547+1206del (n.3547+1205_3547+1206del) c.2891_2892del (p.Glu964GlyfsTer?) c.2858_2859del (p.Glu953GlyfsTer?) c.3071_3072del (p.Glu1024GlyfsTer?) | gnomAD v4 |
X | g.53235117T>A | CA413142368 | IQSEC2 | c.3728A>T (p.Glu1243Val) c.1453+666A>T c.962+666A>T c.316+1205A>T (n.316+1205A>T) c.514+1205A>T (n.514+1205A>T) n.549A>T c.*54A>T (n.*54A>T) c.3569A>T (p.Glu1190Val) c.3539A>T (p.Glu1180Val) c.3665A>T (p.Glu1222Val) c.2954A>T (p.Glu985Val) c.3597+666A>T (n.3597+666A>T) c.3547+1205A>T (n.3547+1205A>T) c.2891A>T (p.Glu964Val) c.2858A>T (p.Glu953Val) c.3071A>T (p.Glu1024Val) | |
X | g.53235117T>C | CA413142370 | IQSEC2 | c.3728A>G (p.Glu1243Gly) c.1453+666A>G c.962+666A>G c.316+1205A>G (n.316+1205A>G) c.514+1205A>G (n.514+1205A>G) n.549A>G c.*54A>G (n.*54A>G) c.3569A>G (p.Glu1190Gly) c.3539A>G (p.Glu1180Gly) c.3665A>G (p.Glu1222Gly) c.2954A>G (p.Glu985Gly) c.3597+666A>G (n.3597+666A>G) c.3547+1205A>G (n.3547+1205A>G) c.2891A>G (p.Glu964Gly) c.2858A>G (p.Glu953Gly) c.3071A>G (p.Glu1024Gly) | gnomAD v4 |
X | g.53235117T>G | CA413142373 | IQSEC2 | c.3728A>C (p.Glu1243Ala) c.1453+666A>C c.962+666A>C c.316+1205A>C (n.316+1205A>C) c.514+1205A>C (n.514+1205A>C) n.549A>C c.*54A>C (n.*54A>C) c.3569A>C (p.Glu1190Ala) c.3539A>C (p.Glu1180Ala) c.3665A>C (p.Glu1222Ala) c.2954A>C (p.Glu985Ala) c.3597+666A>C (n.3597+666A>C) c.3547+1205A>C (n.3547+1205A>C) c.2891A>C (p.Glu964Ala) c.2858A>C (p.Glu953Ala) c.3071A>C (p.Glu1024Ala) | gnomAD v3 gnomAD v4 |
X | g.53235118del | CA2693794413 | IQSEC2 | c.3727del (p.Glu1243ArgfsTer?) c.1453+665del c.962+665del c.316+1204del (n.316+1204del) c.514+1204del (n.514+1204del) n.548del c.*53del (n.*53del) c.3568del (p.Glu1190ArgfsTer?) c.3538del (p.Glu1180ArgfsTer?) c.3664del (p.Glu1222ArgfsTer?) c.2953del (p.Glu985ArgfsTer?) c.3597+665del (n.3597+665del) c.3547+1204del (n.3547+1204del) c.2890del (p.Glu964ArgfsTer?) c.2857del (p.Glu953ArgfsTer?) c.3070del (p.Glu1024ArgfsTer?) | gnomAD v4 |
X | g.53235118C>A | CA413142380 | IQSEC2 | c.3727G>T (p.Glu1243Ter) c.1453+665G>T c.962+665G>T c.316+1204G>T (n.316+1204G>T) c.514+1204G>T (n.514+1204G>T) n.548G>T c.*53G>T (n.*53G>T) c.3568G>T (p.Glu1190Ter) c.3538G>T (p.Glu1180Ter) c.3664G>T (p.Glu1222Ter) c.2953G>T (p.Glu985Ter) c.3597+665G>T (n.3597+665G>T) c.3547+1204G>T (n.3547+1204G>T) c.2890G>T (p.Glu964Ter) c.2857G>T (p.Glu953Ter) c.3070G>T (p.Glu1024Ter) | gnomAD v4 |
X | g.53235118C= | CA2429770694 | IQSEC2 | c.3727G= (p.Glu1243=) c.1453+665G= c.962+665G= c.316+1204G= (n.316+1204G=) c.514+1204G= (n.514+1204G=) n.548G= c.*53G= (n.*53G=) c.3568G= (p.Glu1190=) c.3538G= (p.Glu1180=) c.3664G= (p.Glu1222=) c.2953G= (p.Glu985=) c.3597+665G= (n.3597+665G=) c.3547+1204G= (n.3547+1204G=) c.2890G= (p.Glu964=) c.2857G= (p.Glu953=) c.3070G= (p.Glu1024=) | |
X | g.53235118C>G | CA413142384 | IQSEC2 | c.3727G>C (p.Glu1243Gln) c.1453+665G>C c.962+665G>C c.316+1204G>C (n.316+1204G>C) c.514+1204G>C (n.514+1204G>C) n.548G>C c.*53G>C (n.*53G>C) c.3568G>C (p.Glu1190Gln) c.3538G>C (p.Glu1180Gln) c.3664G>C (p.Glu1222Gln) c.2953G>C (p.Glu985Gln) c.3597+665G>C (n.3597+665G>C) c.3547+1204G>C (n.3547+1204G>C) c.2890G>C (p.Glu964Gln) c.2857G>C (p.Glu953Gln) c.3070G>C (p.Glu1024Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235118C>T | CA413142388 | IQSEC2 | c.3727G>A (p.Glu1243Lys) c.1453+665G>A c.962+665G>A c.316+1204G>A (n.316+1204G>A) c.514+1204G>A (n.514+1204G>A) n.548G>A c.*53G>A (n.*53G>A) c.3568G>A (p.Glu1190Lys) c.3538G>A (p.Glu1180Lys) c.3664G>A (p.Glu1222Lys) c.2953G>A (p.Glu985Lys) c.3597+665G>A (n.3597+665G>A) c.3547+1204G>A (n.3547+1204G>A) c.2890G>A (p.Glu964Lys) c.2857G>A (p.Glu953Lys) c.3070G>A (p.Glu1024Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235118_53235122del | CA2693794416 | IQSEC2 | c.3723_3727del (p.Pro1242GlyfsTer?) c.1453+661_1453+665del c.962+661_962+665del c.316+1200_316+1204del (n.316+1200_316+1204del) c.514+1200_514+1204del (n.514+1200_514+1204del) n.544_548del c.*49_*53del (n.*49_*53del) c.3564_3568del (p.Pro1189GlyfsTer?) c.3534_3538del (p.Pro1179GlyfsTer?) c.3660_3664del (p.Pro1221GlyfsTer?) c.2949_2953del (p.Pro984GlyfsTer?) c.3597+661_3597+665del (n.3597+661_3597+665del) c.3547+1200_3547+1204del (n.3547+1200_3547+1204del) c.2886_2890del (p.Pro963GlyfsTer?) c.2853_2857del (p.Pro952GlyfsTer?) c.3066_3070del (p.Pro1023GlyfsTer?) | gnomAD v4 |
X | g.53235118_53235119insGGG | CA2693794423 | IQSEC2 | c.3726_3727insCCC (p.Pro1242_Glu1243insPro) c.1453+664_1453+665insCCC c.962+664_962+665insCCC c.316+1203_316+1204insCCC (n.316+1203_316+1204insCCC) c.514+1203_514+1204insCCC (n.514+1203_514+1204insCCC) n.547_548insCCC c.*52_*53insCCC (n.*52_*53insCCC) c.3567_3568insCCC (p.Pro1189_Glu1190insPro) c.3537_3538insCCC (p.Pro1179_Glu1180insPro) c.3663_3664insCCC (p.Pro1221_Glu1222insPro) c.2952_2953insCCC (p.Pro984_Glu985insPro) c.3597+664_3597+665insCCC (n.3597+664_3597+665insCCC) c.3547+1203_3547+1204insCCC (n.3547+1203_3547+1204insCCC) c.2889_2890insCCC (p.Pro963_Glu964insPro) c.2856_2857insCCC (p.Pro952_Glu953insPro) c.3069_3070insCCC (p.Pro1023_Glu1024insPro) | gnomAD v4 |
X | g.53235119del | CA2693794424 | IQSEC2 | c.3726del (p.Glu1243ArgfsTer?) c.1453+664del c.962+664del c.316+1203del (n.316+1203del) c.514+1203del (n.514+1203del) n.547del c.*52del (n.*52del) c.3567del (p.Glu1190ArgfsTer?) c.3537del (p.Glu1180ArgfsTer?) c.3663del (p.Glu1222ArgfsTer?) c.2952del (p.Glu985ArgfsTer?) c.3597+664del (n.3597+664del) c.3547+1203del (n.3547+1203del) c.2889del (p.Glu964ArgfsTer?) c.2856del (p.Glu953ArgfsTer?) c.3069del (p.Glu1024ArgfsTer?) | gnomAD v4 |
X | g.53235119T>A | CA516674015 | IQSEC2 | c.3726A>T (p.Pro1242=) c.1453+664A>T c.962+664A>T c.316+1203A>T (n.316+1203A>T) c.514+1203A>T (n.514+1203A>T) n.547A>T c.*52A>T (n.*52A>T) c.3567A>T (p.Pro1189=) c.3537A>T (p.Pro1179=) c.3663A>T (p.Pro1221=) c.2952A>T (p.Pro984=) c.3597+664A>T (n.3597+664A>T) c.3547+1203A>T (n.3547+1203A>T) c.2889A>T (p.Pro963=) c.2856A>T (p.Pro952=) c.3069A>T (p.Pro1023=) | gnomAD v4 |
X | g.53235119T>C | CA516674016 | IQSEC2 | c.3726A>G (p.Pro1242=) c.1453+664A>G c.962+664A>G c.316+1203A>G (n.316+1203A>G) c.514+1203A>G (n.514+1203A>G) n.547A>G c.*52A>G (n.*52A>G) c.3567A>G (p.Pro1189=) c.3537A>G (p.Pro1179=) c.3663A>G (p.Pro1221=) c.2952A>G (p.Pro984=) c.3597+664A>G (n.3597+664A>G) c.3547+1203A>G (n.3547+1203A>G) c.2889A>G (p.Pro963=) c.2856A>G (p.Pro952=) c.3069A>G (p.Pro1023=) | gnomAD v2 gnomAD v4 |
X | g.53235119T>G | CA516674017 | IQSEC2 | c.3726A>C (p.Pro1242=) c.1453+664A>C c.962+664A>C c.316+1203A>C (n.316+1203A>C) c.514+1203A>C (n.514+1203A>C) n.547A>C c.*52A>C (n.*52A>C) c.3567A>C (p.Pro1189=) c.3537A>C (p.Pro1179=) c.3663A>C (p.Pro1221=) c.2952A>C (p.Pro984=) c.3597+664A>C (n.3597+664A>C) c.3547+1203A>C (n.3547+1203A>C) c.2889A>C (p.Pro963=) c.2856A>C (p.Pro952=) c.3069A>C (p.Pro1023=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235119T= | CA2429770695 | IQSEC2 | c.3726A= (p.Pro1242=) c.1453+664A= c.962+664A= c.316+1203A= (n.316+1203A=) c.514+1203A= (n.514+1203A=) n.547A= c.*52A= (n.*52A=) c.3567A= (p.Pro1189=) c.3537A= (p.Pro1179=) c.3663A= (p.Pro1221=) c.2952A= (p.Pro984=) c.3597+664A= (n.3597+664A=) c.3547+1203A= (n.3547+1203A=) c.2889A= (p.Pro963=) c.2856A= (p.Pro952=) c.3069A= (p.Pro1023=) | |
X | g.53235119dup | CA2820950220 | IQSEC2 | c.3726dup (p.Glu1243ArgfsTer?) c.1453+664dup c.962+664dup c.316+1203dup (n.316+1203dup) c.514+1203dup (n.514+1203dup) n.547dup c.*52dup (n.*52dup) c.3567dup (p.Glu1190ArgfsTer?) c.3537dup (p.Glu1180ArgfsTer?) c.3663dup (p.Glu1222ArgfsTer?) c.2952dup (p.Glu985ArgfsTer?) c.3597+664dup (n.3597+664dup) c.3547+1203dup (n.3547+1203dup) c.2889dup (p.Glu964ArgfsTer?) c.2856dup (p.Glu953ArgfsTer?) c.3069dup (p.Glu1024ArgfsTer?) | |
X | g.53235122_53235133del | CA2693794425 | IQSEC2 | c.3715_3726del (p.Pro1239_Pro1242del) c.1453+653_1453+664del c.962+653_962+664del c.316+1192_316+1203del (n.316+1192_316+1203del) c.514+1192_514+1203del (n.514+1192_514+1203del) n.536_547del c.*41_*52del (n.*41_*52del) c.3556_3567del (p.Pro1186_Pro1189del) c.3526_3537del (p.Pro1176_Pro1179del) c.3652_3663del (p.Pro1218_Pro1221del) c.2941_2952del (p.Pro981_Pro984del) c.3597+653_3597+664del (n.3597+653_3597+664del) c.3547+1192_3547+1203del (n.3547+1192_3547+1203del) c.2878_2889del (p.Pro960_Pro963del) c.2845_2856del (p.Pro949_Pro952del) c.3058_3069del (p.Pro1020_Pro1023del) | gnomAD v4 |