Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53234897_53235077delCA2499226779IQSEC2c.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
Xg.53234961_53235025delCA2695234289IQSEC2c.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)
Xg.53235025G>ACA413141669IQSEC2c.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
Xg.53235025G>CCA413141664IQSEC2c.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)
Xg.53235025G>TCA413141667IQSEC2c.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)
Xg.53235026C>ACA413141674IQSEC2c.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)
Xg.53235026C>GCA413141677IQSEC2c.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)
Xg.53235026C>TCA413141679IQSEC2c.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)
Xg.53235027A>CCA413141684IQSEC2c.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)
Xg.53235027A>GCA413141688IQSEC2c.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
Xg.53235027A>TCA413141689IQSEC2c.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)
Xg.53235028T>ACA413141694IQSEC2c.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)
Xg.53235028T>CCA413141697IQSEC2c.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
Xg.53235028T>GCA413141700IQSEC2c.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)
Xg.53235028T=CA2429770676IQSEC2c.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=)
Xg.53235029C>ACA413141704IQSEC2c.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)
Xg.53235029C>GCA413141706IQSEC2c.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)
Xg.53235029C>TCA516673819IQSEC2c.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
Xg.53235030T>ACA413141718IQSEC2c.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)
Xg.53235030T>CCA413141715IQSEC2c.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)
Xg.53235030T>GCA413141711IQSEC2c.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)
Xg.53235031G>ACA413141723IQSEC2c.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)
Xg.53235031G>CCA413141725IQSEC2c.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)
Xg.53235031G>TCA413141727IQSEC2c.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)
Xg.53235032G>ACA516673824IQSEC2c.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
Xg.53235032G>CCA413141731IQSEC2c.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
Xg.53235032G>TCA413141735IQSEC2c.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)
Xg.53235033A>CCA413141741IQSEC2c.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)
Xg.53235033A>GCA413141740IQSEC2c.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)
Xg.53235033A>TCA413141738IQSEC2c.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)
Xg.53235034A>CCA413141744IQSEC2c.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)
Xg.53235034A>GCA413141746IQSEC2c.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)
Xg.53235034A>TCA413141749IQSEC2c.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)
Xg.53235035G>ACA516673831IQSEC2c.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
Xg.53235035G>CCA516673832IQSEC2c.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=)
Xg.53235035G>TCA516673833IQSEC2c.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=)
Xg.53235036G>ACA413141755IQSEC2c.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)
Xg.53235036G>CCA413141759IQSEC2c.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)
Xg.53235036G>TCA413141762IQSEC2c.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)
Xg.53235037G>ACA413141767IQSEC2c.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)
Xg.53235037G>CCA413141772IQSEC2c.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)
Xg.53235037G>TCA413141770IQSEC2c.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)
Xg.53235038C>ACA516673838IQSEC2c.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=)
Xg.53235038C>GCA516673840IQSEC2c.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=)
Xg.53235038C>TCA516673839IQSEC2c.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=)
Xg.53235039C>ACA413141774IQSEC2c.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)
Xg.53235039C>GCA413141776IQSEC2c.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)
Xg.53235039C>TCA413141781IQSEC2c.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)
Xg.53235040C>ACA413141787IQSEC2c.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)
Xg.53235040C>GCA413141789IQSEC2c.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)
Xg.53235040C>TCA413141792IQSEC2c.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)
Xg.53235041C>ACA413141802IQSEC2c.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)
Xg.53235041C>GCA413141808IQSEC2c.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)
Xg.53235041C>TCA516673847IQSEC2c.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
Xg.53235042T>ACA413141811IQSEC2c.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)
Xg.53235042T>CCA413141812IQSEC2c.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)
Xg.53235042T>GCA413141815IQSEC2c.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)
Xg.53235043T>ACA413141819IQSEC2c.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)
Xg.53235043T>CCA413141824IQSEC2c.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)
Xg.53235043T>GCA413141821IQSEC2c.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)
Xg.53235044G>ACA516673854IQSEC2c.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=)
Xg.53235044G>CCA516673856IQSEC2c.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=)
Xg.53235044G>TCA516673858IQSEC2c.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
Xg.53235045C>ACA413141828IQSEC2c.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)
Xg.53235045C>GCA413141834IQSEC2c.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)
Xg.53235045C>TCA413141831IQSEC2c.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)
Xg.53235046C>ACA413141841IQSEC2c.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)
Xg.53235046C=CA2429770677IQSEC2c.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=)
Xg.53235046C>GCA413141847IQSEC2c.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
Xg.53235046C>TCA413141844IQSEC2c.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
Xg.53235047C>ACA516673860IQSEC2c.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=)
Xg.53235047C=CA2429770678IQSEC2c.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=)
Xg.53235047C>GCA516673861IQSEC2c.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=)
Xg.53235047C>TCA516673863IQSEC2c.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
Xg.53235048C>ACA413141851IQSEC2c.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)
Xg.53235048C=CA2429770679IQSEC2c.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=)
Xg.53235048C>GCA413141855IQSEC2c.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
Xg.53235048C>TCA413141858IQSEC2c.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
Xg.53235049G>ACA413141862IQSEC2c.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
Xg.53235049G>CCA413141865IQSEC2c.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)
Xg.53235049G=CA2429770680IQSEC2c.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=)
Xg.53235049G>TCA516673868IQSEC2c.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
Xg.53235050C>ACA413141869IQSEC2c.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)
Xg.53235050C=CA2429770681IQSEC2c.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=)
Xg.53235050C>GCA413141872IQSEC2c.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)
Xg.53235050C>TCA516673870IQSEC2c.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
Xg.53235051T>ACA413141876IQSEC2c.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)
Xg.53235051T>CCA10419782IQSEC2c.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
Xg.53235051T>GCA413141882IQSEC2c.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)
Xg.53235051T=CA2429770682IQSEC2c.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=)
Xg.53235052T>ACA413141892IQSEC2c.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)
Xg.53235052T>CCA413141889IQSEC2c.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)
Xg.53235052T>GCA413141887IQSEC2c.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)
Xg.53235053G>ACA516673874IQSEC2c.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=)
Xg.53235053G>CCA413141893IQSEC2c.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)
Xg.53235053G>TCA413141897IQSEC2c.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)
Xg.53235054C>ACA413141901IQSEC2c.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)
Xg.53235054C>GCA413141904IQSEC2c.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)
Xg.53235054C>TCA413141908IQSEC2c.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)
Xg.53235055T>ACA413141911IQSEC2c.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)
Xg.53235055T>CCA413141914IQSEC2c.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
Xg.53235055T>GCA413141917IQSEC2c.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)
Xg.53235056T>ACA516673878IQSEC2c.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=)
Xg.53235056T>CCA516673879IQSEC2c.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=)
Xg.53235056T>GCA516673880IQSEC2c.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=)
Xg.53235057C>ACA413141919IQSEC2c.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)
Xg.53235057C>GCA413141922IQSEC2c.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)
Xg.53235057C>TCA413141926IQSEC2c.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)
Xg.53235058C>ACA413141933IQSEC2c.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)
Xg.53235058C>GCA413141935IQSEC2c.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)
Xg.53235058C>TCA413141929IQSEC2c.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)
Xg.53235059A>CCA413141939IQSEC2c.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)
Xg.53235059A>GCA516673883IQSEC2c.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=)
Xg.53235059A>TCA413141941IQSEC2c.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)
Xg.53235060A>CCA413141944IQSEC2c.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)
Xg.53235060A>GCA413141947IQSEC2c.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)
Xg.53235060A>TCA413141950IQSEC2c.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)
Xg.53235061A>CCA413141959IQSEC2c.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)
Xg.53235061A>GCA413141954IQSEC2c.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)
Xg.53235061A>TCA413141956IQSEC2c.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)
Xg.53235062T>ACA516673889IQSEC2c.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=)
Xg.53235062T>CCA516673890IQSEC2c.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
Xg.53235062T>GCA516673891IQSEC2c.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=)
Xg.53235062T=CA2429770683IQSEC2c.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=)
Xg.53235063A>CCA413141963IQSEC2c.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)
Xg.53235063A>GCA413141965IQSEC2c.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)
Xg.53235063A>TCA413141967IQSEC2c.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)
Xg.53235064G>ACA516673896IQSEC2c.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
Xg.53235064G>CCA413141973IQSEC2c.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)
Xg.53235064G>TCA413141986IQSEC2c.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)
Xg.53235065G>ACA516673897IQSEC2c.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
Xg.53235065G>CCA516673898IQSEC2c.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=)
Xg.53235065G>TCA516673899IQSEC2c.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=)
Xg.53235066G>ACA413141991IQSEC2c.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)
Xg.53235066G>CCA413141997IQSEC2c.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)
Xg.53235066G>TCA413141994IQSEC2c.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)
Xg.53235067A>CCA413142001IQSEC2c.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)
Xg.53235067A>GCA413142004IQSEC2c.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)
Xg.53235067A>TCA413142007IQSEC2c.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)
Xg.53235068G>ACA516673904IQSEC2c.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
Xg.53235068G>CCA516673905IQSEC2c.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=)
Xg.53235068G=CA2429770684IQSEC2c.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=)
Xg.53235068G>TCA516673906IQSEC2c.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
Xg.53235069C>ACA413142012IQSEC2c.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
Xg.53235069C=CA2429770685IQSEC2c.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=)
Xg.53235069C>GCA209619IQSEC2c.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
Xg.53235069C>TCA413142019IQSEC2c.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)
Xg.53235070C>ACA413142024IQSEC2c.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)
Xg.53235070C>GCA413142028IQSEC2c.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)
Xg.53235070C>TCA413142030IQSEC2c.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)
Xg.53235071C>ACA516673908IQSEC2c.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
Xg.53235071C>GCA516673909IQSEC2c.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=)
Xg.53235071C>TCA516673910IQSEC2c.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=)
Xg.53235072A>CCA413142034IQSEC2c.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)
Xg.53235072A>GCA413142038IQSEC2c.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)
Xg.53235072A>TCA413142041IQSEC2c.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)
Xg.53235073G>ACA516673913IQSEC2c.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=)
Xg.53235073G>CCA413142045IQSEC2c.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)
Xg.53235073G>TCA413142048IQSEC2c.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)
Xg.53235074delCA2580101218IQSEC2c.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
Xg.53235074G>ACA516673916IQSEC2c.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
Xg.53235074G>CCA413142051IQSEC2c.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)
Xg.53235074G>TCA413142054IQSEC2c.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)
Xg.53235075A>CCA413142058IQSEC2c.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)
Xg.53235075A>GCA413142061IQSEC2c.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)
Xg.53235075A>TCA413142064IQSEC2c.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)
Xg.53235076A>CCA413142068IQSEC2c.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)
Xg.53235076A>GCA413142072IQSEC2c.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)
Xg.53235076A>TCA413142076IQSEC2c.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)
Xg.53235077G>ACA516673923IQSEC2c.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=)
Xg.53235077G>CCA516673924IQSEC2c.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=)
Xg.53235077G>TCA516673925IQSEC2c.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=)
Xg.53235078G>ACA413142080IQSEC2c.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
Xg.53235078G>CCA413142083IQSEC2c.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)
Xg.53235078G=CA2429770686IQSEC2c.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=)
Xg.53235078G>TCA413142085IQSEC2c.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)
Xg.53235079A>CCA413142088IQSEC2c.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)
Xg.53235079A>GCA413142090IQSEC2c.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)
Xg.53235079A>TCA413142093IQSEC2c.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)
Xg.53235080T>ACA516673929IQSEC2c.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=)
Xg.53235080T>CCA516673930IQSEC2c.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
Xg.53235080T>GCA516673928IQSEC2c.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=)
Xg.53235080T=CA2429770687IQSEC2c.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=)
Xg.53235081G>ACA413142101IQSEC2c.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)
Xg.53235081G>CCA413142096IQSEC2c.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)
Xg.53235081G>TCA413142099IQSEC2c.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)
Xg.53235082A>CCA413142105IQSEC2c.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)
Xg.53235082A>GCA413142107IQSEC2c.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)
Xg.53235082A>TCA413142109IQSEC2c.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)
Xg.53235083G>ACA516673936IQSEC2c.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=)
Xg.53235083G>CCA516673937IQSEC2c.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=)
Xg.53235083G>TCA516673938IQSEC2c.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
Xg.53235084G>ACA413142111IQSEC2c.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
Xg.53235084G>CCA413142114IQSEC2c.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)
Xg.53235084G>TCA413142116IQSEC2c.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)
Xg.53235085A=CA2429770688IQSEC2c.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=)
Xg.53235085A>CCA413142119IQSEC2c.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)
Xg.53235085A>GCA413142121IQSEC2c.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
Xg.53235085A>TCA413142123IQSEC2c.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)
Xg.53235086G>ACA516673944IQSEC2c.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=)
Xg.53235086G>CCA413142126IQSEC2c.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)
Xg.53235086G>TCA413142128IQSEC2c.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)
Xg.53235087T>ACA413142135IQSEC2c.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)
Xg.53235087T>CCA413142132IQSEC2c.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
Xg.53235087T>GCA413142130IQSEC2c.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
Xg.53235088T>ACA413142137IQSEC2c.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)
Xg.53235088T>CCA413142140IQSEC2c.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)
Xg.53235088T>GCA413142142IQSEC2c.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
Xg.53235088T=CA2429770689IQSEC2c.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=)
Xg.53235089G>ACA516673950IQSEC2c.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=)
Xg.53235089G>CCA516673951IQSEC2c.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=)
Xg.53235089G>TCA516673952IQSEC2c.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=)
Xg.53235090G>ACA413142145IQSEC2c.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)
Xg.53235090G>CCA413142147IQSEC2c.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)
Xg.53235090G>TCA413142148IQSEC2c.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)
Xg.53235091A>CCA413142150IQSEC2c.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)
Xg.53235091A>GCA413142154IQSEC2c.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
Xg.53235091A>TCA413142157IQSEC2c.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)
Xg.53235091_53235094delCA2693794346IQSEC2c.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
Xg.53235092G>ACA516673958IQSEC2c.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=)
Xg.53235092G>CCA516673960IQSEC2c.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=)
Xg.53235092G>TCA516673961IQSEC2c.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
Xg.53235093A>CCA413142163IQSEC2c.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)
Xg.53235093A>GCA413142166IQSEC2c.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)
Xg.53235093A>TCA413142169IQSEC2c.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)
Xg.53235094C>ACA413142179IQSEC2c.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)
Xg.53235094C=CA2429770690IQSEC2c.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=)
Xg.53235094C>GCA413142175IQSEC2c.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
Xg.53235094C>TCA413142173IQSEC2c.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
Xg.53235095G>ACA329162210IQSEC2c.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
Xg.53235095G>CCA516673966IQSEC2c.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
Xg.53235095G=CA2429770691IQSEC2c.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=)
Xg.53235095G>TCA516673967IQSEC2c.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=)
Xg.53235096G>ACA413142182IQSEC2c.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)
Xg.53235096G>CCA413142185IQSEC2c.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)
Xg.53235096G>TCA413142189IQSEC2c.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)
Xg.53235097G>ACA413142192IQSEC2c.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)
Xg.53235097G>CCA413142195IQSEC2c.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
Xg.53235097G>TCA413142198IQSEC2c.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
Xg.53235098_53235126delCA2693794361IQSEC2c.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
Xg.53235098C>ACA413142203IQSEC2c.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)
Xg.53235098C>GCA413142206IQSEC2c.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)
Xg.53235098C>TCA516673974IQSEC2c.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=)
Xg.53235098_53235119delCA2693794365IQSEC2c.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
Xg.53235098_53235122delCA1133160106IQSEC2c.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
Xg.53235098_53235125delCA2693794370IQSEC2c.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
Xg.53235099C>ACA413142210IQSEC2c.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
Xg.53235099C>GCA413142213IQSEC2c.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)
Xg.53235099C>TCA413142217IQSEC2c.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)
Xg.53235101_53235102delCA2579614735IQSEC2c.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?)
Xg.53235100T>ACA413142222IQSEC2c.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)
Xg.53235100T>CCA413142224IQSEC2c.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)
Xg.53235100T>GCA516673978IQSEC2c.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=)
Xg.53235101C>ACA413142231IQSEC2c.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)
Xg.53235101C>GCA413142228IQSEC2c.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)
Xg.53235101C>TCA516673979IQSEC2c.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=)
Xg.53235102T>ACA413142233IQSEC2c.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)
Xg.53235102T>CCA413142241IQSEC2c.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)
Xg.53235102T>GCA413142238IQSEC2c.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)
Xg.53235103G>ACA413142246IQSEC2c.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)
Xg.53235103G>CCA413142251IQSEC2c.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)
Xg.53235103G>TCA413142249IQSEC2c.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)
Xg.53235104G>ACA516673986IQSEC2c.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
Xg.53235104G>CCA413142253IQSEC2c.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)
Xg.53235104G>TCA413142255IQSEC2c.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)
Xg.53235105C>ACA413142259IQSEC2c.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)
Xg.53235105C>GCA413142263IQSEC2c.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
Xg.53235105C>TCA413142266IQSEC2c.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
Xg.53235106T>ACA413142271IQSEC2c.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)
Xg.53235106T>CCA413142274IQSEC2c.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)
Xg.53235106T>GCA413142277IQSEC2c.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)
Xg.53235107C>ACA413142279IQSEC2c.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)
Xg.53235107C>GCA413142283IQSEC2c.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)
Xg.53235107C>TCA516673991IQSEC2c.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
Xg.53235108T>ACA413142288IQSEC2c.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)
Xg.53235108T>CCA413142289IQSEC2c.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)
Xg.53235108T>GCA413142292IQSEC2c.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)
Xg.53235109T>ACA413142295IQSEC2c.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)
Xg.53235109T>CCA413142299IQSEC2c.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)
Xg.53235109T>GCA413142297IQSEC2c.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)
Xg.53235110G>ACA516673996IQSEC2c.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=)
Xg.53235110G>CCA413142301IQSEC2c.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)
Xg.53235110G>TCA413142304IQSEC2c.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
Xg.53235111T>ACA413142308IQSEC2c.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
Xg.53235111T>CCA413142311IQSEC2c.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)
Xg.53235111T>GCA413142314IQSEC2c.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)
Xg.53235112A=CA2429770692IQSEC2c.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=)
Xg.53235112A>CCA413142325IQSEC2c.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
Xg.53235112A>GCA413142334IQSEC2c.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)
Xg.53235112A>TCA413142338IQSEC2c.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
Xg.53235113C>ACA413142346IQSEC2c.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
Xg.53235113C=CA2429770693IQSEC2c.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=)
Xg.53235113C>GCA413142348IQSEC2c.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
Xg.53235113C>TCA516674001IQSEC2c.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
Xg.53235114T>ACA413142354IQSEC2c.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)
Xg.53235114T>CCA413142353IQSEC2c.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
Xg.53235114T>GCA413142351IQSEC2c.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
Xg.53235115C>ACA413142358IQSEC2c.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)
Xg.53235115C>GCA413142356IQSEC2c.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)
Xg.53235115C>TCA413142357IQSEC2c.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)
Xg.53235116C>ACA413142361IQSEC2c.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
Xg.53235116C>GCA413142362IQSEC2c.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
Xg.53235116C>TCA516674007IQSEC2c.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
Xg.53235118_53235119delCA2693794405IQSEC2c.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
Xg.53235117T>ACA413142368IQSEC2c.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)
Xg.53235117T>CCA413142370IQSEC2c.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
Xg.53235117T>GCA413142373IQSEC2c.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
Xg.53235118delCA2693794413IQSEC2c.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
Xg.53235118C>ACA413142380IQSEC2c.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
Xg.53235118C=CA2429770694IQSEC2c.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=)
Xg.53235118C>GCA413142384IQSEC2c.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
Xg.53235118C>TCA413142388IQSEC2c.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
Xg.53235118_53235122delCA2693794416IQSEC2c.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
Xg.53235118_53235119insGGGCA2693794423IQSEC2c.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
Xg.53235119delCA2693794424IQSEC2c.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
Xg.53235119T>ACA516674015IQSEC2c.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
Xg.53235119T>CCA516674016IQSEC2c.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
Xg.53235119T>GCA516674017IQSEC2c.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
Xg.53235119T=CA2429770695IQSEC2c.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=)
Xg.53235119dupCA2820950220IQSEC2c.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?)
Xg.53235122_53235133delCA2693794425IQSEC2c.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
Xg.53235119_53235120insTGCA2429770696IQSEC2c.3725_3726insCA (p.Glu1243LysfsTer?)
c.1453+663_1453+664insCA
c.962+663_962+664insCA
c.316+1202_316+1203insCA (n.316+1202_316+1203insCA)
c.514+1202_514+1203insCA (n.514+1202_514+1203insCA)
n.546_547insCA
c.*51_*52insCA (n.*51_*52insCA)
c.3566_3567insCA (p.Glu1190LysfsTer?)
c.3536_3537insCA (p.Glu1180LysfsTer?)
c.3662_3663insCA (p.Glu1222LysfsTer?)
c.2951_2952insCA (p.Glu985LysfsTer?)
c.3597+663_3597+664insCA (n.3597+663_3597+664insCA)
c.3547+1202_3547+1203insCA (n.3547+1202_3547+1203insCA)
c.2888_2889insCA (p.Glu964LysfsTer?)
c.2855_2856insCA (p.Glu953LysfsTer?)
c.3068_3069insCA (p.Glu1024LysfsTer?)
 dbSNP
Xg.53235119_53235120insTGGCA2693794431IQSEC2c.3725_3726insCCA (p.Pro1242_Glu1243insGln)
c.1453+663_1453+664insCCA
c.962+663_962+664insCCA
c.316+1202_316+1203insCCA (n.316+1202_316+1203insCCA)
c.514+1202_514+1203insCCA (n.514+1202_514+1203insCCA)
n.546_547insCCA
c.*51_*52insCCA (n.*51_*52insCCA)
c.3566_3567insCCA (p.Pro1189_Glu1190insGln)
c.3536_3537insCCA (p.Pro1179_Glu1180insGln)
c.3662_3663insCCA (p.Pro1221_Glu1222insGln)
c.2951_2952insCCA (p.Pro984_Glu985insGln)
c.3597+663_3597+664insCCA (n.3597+663_3597+664insCCA)
c.3547+1202_3547+1203insCCA (n.3547+1202_3547+1203insCCA)
c.2888_2889insCCA (p.Pro963_Glu964insGln)
c.2855_2856insCCA (p.Pro952_Glu953insGln)
c.3068_3069insCCA (p.Pro1023_Glu1024insGln)
 gnomAD v4
Xg.53235119_53235120insTTGCA2693794436IQSEC2c.3725_3726insCAA (p.Pro1242_Glu1243insLys)
c.1453+663_1453+664insCAA
c.962+663_962+664insCAA
c.316+1202_316+1203insCAA (n.316+1202_316+1203insCAA)
c.514+1202_514+1203insCAA (n.514+1202_514+1203insCAA)
n.546_547insCAA
c.*51_*52insCAA (n.*51_*52insCAA)
c.3566_3567insCAA (p.Pro1189_Glu1190insLys)
c.3536_3537insCAA (p.Pro1179_Glu1180insLys)
c.3662_3663insCAA (p.Pro1221_Glu1222insLys)
c.2951_2952insCAA (p.Pro984_Glu985insLys)
c.3597+663_3597+664insCAA (n.3597+663_3597+664insCAA)
c.3547+1202_3547+1203insCAA (n.3547+1202_3547+1203insCAA)
c.2888_2889insCAA (p.Pro963_Glu964insLys)
c.2855_2856insCAA (p.Pro952_Glu953insLys)
c.3068_3069insCAA (p.Pro1023_Glu1024insLys)
 gnomAD v4
Xg.53235120G>ACA413142392IQSEC2c.3725C>T (p.Pro1242Leu)
c.1453+663C>T
c.962+663C>T
c.316+1202C>T (n.316+1202C>T)
c.514+1202C>T (n.514+1202C>T)
n.546C>T
c.*51C>T (n.*51C>T)
c.3566C>T (p.Pro1189Leu)
c.3536C>T (p.Pro1179Leu)
c.3662C>T (p.Pro1221Leu)
c.2951C>T (p.Pro984Leu)
c.3597+663C>T (n.3597+663C>T)
c.3547+1202C>T (n.3547+1202C>T)
c.2888C>T (p.Pro963Leu)
c.2855C>T (p.Pro952Leu)
c.3068C>T (p.Pro1023Leu)
Xg.53235120G>CCA413142397IQSEC2c.3725C>G (p.Pro1242Arg)
c.1453+663C>G
c.962+663C>G
c.316+1202C>G (n.316+1202C>G)
c.514+1202C>G (n.514+1202C>G)
n.546C>G
c.*51C>G (n.*51C>G)
c.3566C>G (p.Pro1189Arg)
c.3536C>G (p.Pro1179Arg)
c.3662C>G (p.Pro1221Arg)
c.2951C>G (p.Pro984Arg)
c.3597+663C>G (n.3597+663C>G)
c.3547+1202C>G (n.3547+1202C>G)
c.2888C>G (p.Pro963Arg)
c.2855C>G (p.Pro952Arg)
c.3068C>G (p.Pro1023Arg)
Xg.53235120G>TCA413142400IQSEC2c.3725C>A (p.Pro1242Gln)
c.1453+663C>A
c.962+663C>A
c.316+1202C>A (n.316+1202C>A)
c.514+1202C>A (n.514+1202C>A)
n.546C>A
c.*51C>A (n.*51C>A)
c.3566C>A (p.Pro1189Gln)
c.3536C>A (p.Pro1179Gln)
c.3662C>A (p.Pro1221Gln)
c.2951C>A (p.Pro984Gln)
c.3597+663C>A (n.3597+663C>A)
c.3547+1202C>A (n.3547+1202C>A)
c.2888C>A (p.Pro963Gln)
c.2855C>A (p.Pro952Gln)
c.3068C>A (p.Pro1023Gln)
 gnomAD v4
Xg.53235121_53235122insGGGCA641903966IQSEC2c.3725_3726insCCC (p.Pro1242_Glu1243insPro)
c.1453+663_1453+664insCCC
c.962+663_962+664insCCC
c.316+1202_316+1203insCCC (n.316+1202_316+1203insCCC)
c.514+1202_514+1203insCCC (n.514+1202_514+1203insCCC)
n.546_547insCCC
c.*51_*52insCCC (n.*51_*52insCCC)
c.3566_3567insCCC (p.Pro1189_Glu1190insPro)
c.3536_3537insCCC (p.Pro1179_Glu1180insPro)
c.3662_3663insCCC (p.Pro1221_Glu1222insPro)
c.2951_2952insCCC (p.Pro984_Glu985insPro)
c.3597+663_3597+664insCCC (n.3597+663_3597+664insCCC)
c.3547+1202_3547+1203insCCC (n.3547+1202_3547+1203insCCC)
c.2888_2889insCCC (p.Pro963_Glu964insPro)
c.2855_2856insCCC (p.Pro952_Glu953insPro)
c.3068_3069insCCC (p.Pro1023_Glu1024insPro)
 gnomAD v2 gnomAD v4
Xg.53235121_53235122insGGGGGCA2693794440IQSEC2c.3725_3726insCCCCC (p.Glu1243ProfsTer?)
c.1453+663_1453+664insCCCCC
c.962+663_962+664insCCCCC
c.316+1202_316+1203insCCCCC (n.316+1202_316+1203insCCCCC)
c.514+1202_514+1203insCCCCC (n.514+1202_514+1203insCCCCC)
n.546_547insCCCCC
c.*51_*52insCCCCC (n.*51_*52insCCCCC)
c.3566_3567insCCCCC (p.Glu1190ProfsTer?)
c.3536_3537insCCCCC (p.Glu1180ProfsTer?)
c.3662_3663insCCCCC (p.Glu1222ProfsTer?)
c.2951_2952insCCCCC (p.Glu985ProfsTer?)
c.3597+663_3597+664insCCCCC (n.3597+663_3597+664insCCCCC)
c.3547+1202_3547+1203insCCCCC (n.3547+1202_3547+1203insCCCCC)
c.2888_2889insCCCCC (p.Glu964ProfsTer?)
c.2855_2856insCCCCC (p.Glu953ProfsTer?)
c.3068_3069insCCCCC (p.Glu1024ProfsTer?)
 gnomAD v4
Xg.53235121_53235122insGGGGGGGGGGCA2693794439IQSEC2c.3725_3726insCCCCCCCCCC (p.Glu1243ProfsTer?)
c.1453+663_1453+664insCCCCCCCCCC
c.962+663_962+664insCCCCCCCCCC
c.316+1202_316+1203insCCCCCCCCCC (n.316+1202_316+1203insCCCCCCCCCC)
c.514+1202_514+1203insCCCCCCCCCC (n.514+1202_514+1203insCCCCCCCCCC)
n.546_547insCCCCCCCCCC
c.*51_*52insCCCCCCCCCC (n.*51_*52insCCCCCCCCCC)
c.3566_3567insCCCCCCCCCC (p.Glu1190ProfsTer?)
c.3536_3537insCCCCCCCCCC (p.Glu1180ProfsTer?)
c.3662_3663insCCCCCCCCCC (p.Glu1222ProfsTer?)
c.2951_2952insCCCCCCCCCC (p.Glu985ProfsTer?)
c.3597+663_3597+664insCCCCCCCCCC (n.3597+663_3597+664insCCCCCCCCCC)
c.3547+1202_3547+1203insCCCCCCCCCC (n.3547+1202_3547+1203insCCCCCCCCCC)
c.2888_2889insCCCCCCCCCC (p.Glu964ProfsTer?)
c.2855_2856insCCCCCCCCCC (p.Glu953ProfsTer?)
c.3068_3069insCCCCCCCCCC (p.Glu1024ProfsTer?)
 gnomAD v4
Xg.53235121_53235122insAGGAGGGGGGGGCA2693794443IQSEC2c.3725_3726insCCCCCCTCCTCC (p.Pro1242_Glu1243insProProProPro)
c.1453+663_1453+664insCCCCCCTCCTCC
c.962+663_962+664insCCCCCCTCCTCC
c.316+1202_316+1203insCCCCCCTCCTCC (n.316+1202_316+1203insCCCCCCTCCTCC)
c.514+1202_514+1203insCCCCCCTCCTCC (n.514+1202_514+1203insCCCCCCTCCTCC)
n.546_547insCCCCCCTCCTCC
c.*51_*52insCCCCCCTCCTCC (n.*51_*52insCCCCCCTCCTCC)
c.3566_3567insCCCCCCTCCTCC (p.Pro1189_Glu1190insProProProPro)
c.3536_3537insCCCCCCTCCTCC (p.Pro1179_Glu1180insProProProPro)
c.3662_3663insCCCCCCTCCTCC (p.Pro1221_Glu1222insProProProPro)
c.2951_2952insCCCCCCTCCTCC (p.Pro984_Glu985insProProProPro)
c.3597+663_3597+664insCCCCCCTCCTCC (n.3597+663_3597+664insCCCCCCTCCTCC)
c.3547+1202_3547+1203insCCCCCCTCCTCC (n.3547+1202_3547+1203insCCCCCCTCCTCC)
c.2888_2889insCCCCCCTCCTCC (p.Pro963_Glu964insProProProPro)
c.2855_2856insCCCCCCTCCTCC (p.Pro952_Glu953insProProProPro)
c.3068_3069insCCCCCCTCCTCC (p.Pro1023_Glu1024insProProProPro)
 gnomAD v4
Xg.53235121dupCA641903965IQSEC2c.3725dup (p.Glu1243ArgfsTer?)
c.1453+663dup
c.962+663dup
c.316+1202dup (n.316+1202dup)
c.514+1202dup (n.514+1202dup)
n.546dup
c.*51dup (n.*51dup)
c.3566dup (p.Glu1190ArgfsTer?)
c.3536dup (p.Glu1180ArgfsTer?)
c.3662dup (p.Glu1222ArgfsTer?)
c.2951dup (p.Glu985ArgfsTer?)
c.3597+663dup (n.3597+663dup)
c.3547+1202dup (n.3547+1202dup)
c.2888dup (p.Glu964ArgfsTer?)
c.2855dup (p.Glu953ArgfsTer?)
c.3068dup (p.Glu1024ArgfsTer?)
 gnomAD v2 gnomAD v4
Xg.53235120_53235121dupCA641903967IQSEC2c.3724_3725dup (p.Glu1243GlnfsTer?)
c.1453+662_1453+663dup
c.962+662_962+663dup
c.316+1201_316+1202dup (n.316+1201_316+1202dup)
c.514+1201_514+1202dup (n.514+1201_514+1202dup)
n.545_546dup
c.*50_*51dup (n.*50_*51dup)
c.3565_3566dup (p.Glu1190GlnfsTer?)
c.3535_3536dup (p.Glu1180GlnfsTer?)
c.3661_3662dup (p.Glu1222GlnfsTer?)
c.2950_2951dup (p.Glu985GlnfsTer?)
c.3597+662_3597+663dup (n.3597+662_3597+663dup)
c.3547+1201_3547+1202dup (n.3547+1201_3547+1202dup)
c.2887_2888dup (p.Glu964GlnfsTer?)
c.2854_2855dup (p.Glu953GlnfsTer?)
c.3067_3068dup (p.Glu1024GlnfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235125_53235139delCA2693794435IQSEC2c.3711_3725del (p.Pro1238_Pro1242del)
c.1453+649_1453+663del
c.962+649_962+663del
c.316+1188_316+1202del (n.316+1188_316+1202del)
c.514+1188_514+1202del (n.514+1188_514+1202del)
n.532_546del
c.*37_*51del (n.*37_*51del)
c.3552_3566del (p.Pro1185_Pro1189del)
c.3522_3536del (p.Pro1175_Pro1179del)
c.3648_3662del (p.Pro1217_Pro1221del)
c.2937_2951del (p.Pro980_Pro984del)
c.3597+649_3597+663del (n.3597+649_3597+663del)
c.3547+1188_3547+1202del (n.3547+1188_3547+1202del)
c.2874_2888del (p.Pro959_Pro963del)
c.2841_2855del (p.Pro948_Pro952del)
c.3054_3068del (p.Pro1019_Pro1023del)
 gnomAD v4
Xg.53235121G>ACA413142419IQSEC2c.3724C>T (p.Pro1242Ser)
c.1453+662C>T
c.962+662C>T
c.316+1201C>T (n.316+1201C>T)
c.514+1201C>T (n.514+1201C>T)
n.545C>T
c.*50C>T (n.*50C>T)
c.3565C>T (p.Pro1189Ser)
c.3535C>T (p.Pro1179Ser)
c.3661C>T (p.Pro1221Ser)
c.2950C>T (p.Pro984Ser)
c.3597+662C>T (n.3597+662C>T)
c.3547+1201C>T (n.3547+1201C>T)
c.2887C>T (p.Pro963Ser)
c.2854C>T (p.Pro952Ser)
c.3067C>T (p.Pro1023Ser)
Xg.53235121G>CCA413142412IQSEC2c.3724C>G (p.Pro1242Ala)
c.1453+662C>G
c.962+662C>G
c.316+1201C>G (n.316+1201C>G)
c.514+1201C>G (n.514+1201C>G)
n.545C>G
c.*50C>G (n.*50C>G)
c.3565C>G (p.Pro1189Ala)
c.3535C>G (p.Pro1179Ala)
c.3661C>G (p.Pro1221Ala)
c.2950C>G (p.Pro984Ala)
c.3597+662C>G (n.3597+662C>G)
c.3547+1201C>G (n.3547+1201C>G)
c.2887C>G (p.Pro963Ala)
c.2854C>G (p.Pro952Ala)
c.3067C>G (p.Pro1023Ala)
Xg.53235121G>TCA413142415IQSEC2c.3724C>A (p.Pro1242Thr)
c.1453+662C>A
c.962+662C>A
c.316+1201C>A (n.316+1201C>A)
c.514+1201C>A (n.514+1201C>A)
n.545C>A
c.*50C>A (n.*50C>A)
c.3565C>A (p.Pro1189Thr)
c.3535C>A (p.Pro1179Thr)
c.3661C>A (p.Pro1221Thr)
c.2950C>A (p.Pro984Thr)
c.3597+662C>A (n.3597+662C>A)
c.3547+1201C>A (n.3547+1201C>A)
c.2887C>A (p.Pro963Thr)
c.2854C>A (p.Pro952Thr)
c.3067C>A (p.Pro1023Thr)
Xg.53235121_53235122delinsGCCA2429770697IQSEC2c.3723_3724delinsGC (p.Pro1241=)
c.1453+661_1453+662delinsGC
c.962+661_962+662delinsGC
c.316+1200_316+1201delinsGC (n.316+1200_316+1201delinsGC)
c.514+1200_514+1201delinsGC (n.514+1200_514+1201delinsGC)
n.544_545delinsGC
c.*49_*50delinsGC (n.*49_*50delinsGC)
c.3564_3565delinsGC (p.Pro1188=)
c.3534_3535delinsGC (p.Pro1178=)
c.3660_3661delinsGC (p.Pro1220=)
c.2949_2950delinsGC (p.Pro983=)
c.3597+661_3597+662delinsGC (n.3597+661_3597+662delinsGC)
c.3547+1200_3547+1201delinsGC (n.3547+1200_3547+1201delinsGC)
c.2886_2887delinsGC (p.Pro962=)
c.2853_2854delinsGC (p.Pro951=)
c.3066_3067delinsGC (p.Pro1022=)
Xg.53235122delCA641903968IQSEC2c.3723del (p.Pro1242GlnfsTer?)
c.1453+661del
c.962+661del
c.316+1200del (n.316+1200del)
c.514+1200del (n.514+1200del)
n.544del
c.*49del (n.*49del)
c.3564del (p.Pro1189GlnfsTer?)
c.3534del (p.Pro1179GlnfsTer?)
c.3660del (p.Pro1221GlnfsTer?)
c.2949del (p.Pro984GlnfsTer?)
c.3597+661del (n.3597+661del)
c.3547+1200del (n.3547+1200del)
c.2886del (p.Pro963GlnfsTer?)
c.2853del (p.Pro952GlnfsTer?)
c.3066del (p.Pro1023GlnfsTer?)
 dbSNP gnomAD v2 gnomAD v4
Xg.53235122C>ACA516674025IQSEC2c.3723G>T (p.Pro1241=)
c.1453+661G>T
c.962+661G>T
c.316+1200G>T (n.316+1200G>T)
c.514+1200G>T (n.514+1200G>T)
n.544G>T
c.*49G>T (n.*49G>T)
c.3564G>T (p.Pro1188=)
c.3534G>T (p.Pro1178=)
c.3660G>T (p.Pro1220=)
c.2949G>T (p.Pro983=)
c.3597+661G>T (n.3597+661G>T)
c.3547+1200G>T (n.3547+1200G>T)
c.2886G>T (p.Pro962=)
c.2853G>T (p.Pro951=)
c.3066G>T (p.Pro1022=)
 gnomAD v4
Xg.53235122C=CA2429770698IQSEC2c.3723G= (p.Pro1241=)
c.1453+661G=
c.962+661G=
c.316+1200G= (n.316+1200G=)
c.514+1200G= (n.514+1200G=)
n.544G=
c.*49G= (n.*49G=)
c.3564G= (p.Pro1188=)
c.3534G= (p.Pro1178=)
c.3660G= (p.Pro1220=)
c.2949G= (p.Pro983=)
c.3597+661G= (n.3597+661G=)
c.3547+1200G= (n.3547+1200G=)
c.2886G= (p.Pro962=)
c.2853G= (p.Pro951=)
c.3066G= (p.Pro1022=)
Xg.53235122C>GCA516674024IQSEC2c.3723G>C (p.Pro1241=)
c.1453+661G>C
c.962+661G>C
c.316+1200G>C (n.316+1200G>C)
c.514+1200G>C (n.514+1200G>C)
n.544G>C
c.*49G>C (n.*49G>C)
c.3564G>C (p.Pro1188=)
c.3534G>C (p.Pro1178=)
c.3660G>C (p.Pro1220=)
c.2949G>C (p.Pro983=)
c.3597+661G>C (n.3597+661G>C)
c.3547+1200G>C (n.3547+1200G>C)
c.2886G>C (p.Pro962=)
c.2853G>C (p.Pro951=)
c.3066G>C (p.Pro1022=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235122C>TCA516674023IQSEC2c.3723G>A (p.Pro1241=)
c.1453+661G>A
c.962+661G>A
c.316+1200G>A (n.316+1200G>A)
c.514+1200G>A (n.514+1200G>A)
n.544G>A
c.*49G>A (n.*49G>A)
c.3564G>A (p.Pro1188=)
c.3534G>A (p.Pro1178=)
c.3660G>A (p.Pro1220=)
c.2949G>A (p.Pro983=)
c.3597+661G>A (n.3597+661G>A)
c.3547+1200G>A (n.3547+1200G>A)
c.2886G>A (p.Pro962=)
c.2853G>A (p.Pro951=)
c.3066G>A (p.Pro1022=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53235123G>ACA413142423IQSEC2c.3722C>T (p.Pro1241Leu)
c.1453+660C>T
c.962+660C>T
c.316+1199C>T (n.316+1199C>T)
c.514+1199C>T (n.514+1199C>T)
n.543C>T
c.*48C>T (n.*48C>T)
c.3563C>T (p.Pro1188Leu)
c.3533C>T (p.Pro1178Leu)
c.3659C>T (p.Pro1220Leu)
c.2948C>T (p.Pro983Leu)
c.3597+660C>T (n.3597+660C>T)
c.3547+1199C>T (n.3547+1199C>T)
c.2885C>T (p.Pro962Leu)
c.2852C>T (p.Pro951Leu)
c.3065C>T (p.Pro1022Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53235123G>CCA413142427IQSEC2c.3722C>G (p.Pro1241Arg)
c.1453+660C>G
c.962+660C>G
c.316+1199C>G (n.316+1199C>G)
c.514+1199C>G (n.514+1199C>G)
n.543C>G
c.*48C>G (n.*48C>G)
c.3563C>G (p.Pro1188Arg)
c.3533C>G (p.Pro1178Arg)
c.3659C>G (p.Pro1220Arg)
c.2948C>G (p.Pro983Arg)
c.3597+660C>G (n.3597+660C>G)
c.3547+1199C>G (n.3547+1199C>G)
c.2885C>G (p.Pro962Arg)
c.2852C>G (p.Pro951Arg)
c.3065C>G (p.Pro1022Arg)
Xg.53235123G=CA2429770699IQSEC2c.3722C= (p.Pro1241=)
c.1453+660C=
c.962+660C=
c.316+1199C= (n.316+1199C=)
c.514+1199C= (n.514+1199C=)
n.543C=
c.*48C= (n.*48C=)
c.3563C= (p.Pro1188=)
c.3533C= (p.Pro1178=)
c.3659C= (p.Pro1220=)
c.2948C= (p.Pro983=)
c.3597+660C= (n.3597+660C=)
c.3547+1199C= (n.3547+1199C=)
c.2885C= (p.Pro962=)
c.2852C= (p.Pro951=)
c.3065C= (p.Pro1022=)
Xg.53235123G>TCA413142428IQSEC2c.3722C>A (p.Pro1241Gln)
c.1453+660C>A
c.962+660C>A
c.316+1199C>A (n.316+1199C>A)
c.514+1199C>A (n.514+1199C>A)
n.543C>A
c.*48C>A (n.*48C>A)
c.3563C>A (p.Pro1188Gln)
c.3533C>A (p.Pro1178Gln)
c.3659C>A (p.Pro1220Gln)
c.2948C>A (p.Pro983Gln)
c.3597+660C>A (n.3597+660C>A)
c.3547+1199C>A (n.3547+1199C>A)
c.2885C>A (p.Pro962Gln)
c.2852C>A (p.Pro951Gln)
c.3065C>A (p.Pro1022Gln)
 gnomAD v4
Xg.53235124_53235125insGGGCA2693794480IQSEC2c.3722_3723insCCC (p.Pro1241_Pro1242insPro)
c.1453+660_1453+661insCCC
c.962+660_962+661insCCC
c.316+1199_316+1200insCCC (n.316+1199_316+1200insCCC)
c.514+1199_514+1200insCCC (n.514+1199_514+1200insCCC)
n.543_544insCCC
c.*48_*49insCCC (n.*48_*49insCCC)
c.3563_3564insCCC (p.Pro1188_Pro1189insPro)
c.3533_3534insCCC (p.Pro1178_Pro1179insPro)
c.3659_3660insCCC (p.Pro1220_Pro1221insPro)
c.2948_2949insCCC (p.Pro983_Pro984insPro)
c.3597+660_3597+661insCCC (n.3597+660_3597+661insCCC)
c.3547+1199_3547+1200insCCC (n.3547+1199_3547+1200insCCC)
c.2885_2886insCCC (p.Pro962_Pro963insPro)
c.2852_2853insCCC (p.Pro951_Pro952insPro)
c.3065_3066insCCC (p.Pro1022_Pro1023insPro)
 gnomAD v4
Xg.53235124_53235125insGGGGCA641903971IQSEC2c.3722_3723insCCCC (p.Glu1243AlafsTer?)
c.1453+660_1453+661insCCCC
c.962+660_962+661insCCCC
c.316+1199_316+1200insCCCC (n.316+1199_316+1200insCCCC)
c.514+1199_514+1200insCCCC (n.514+1199_514+1200insCCCC)
n.543_544insCCCC
c.*48_*49insCCCC (n.*48_*49insCCCC)
c.3563_3564insCCCC (p.Glu1190AlafsTer?)
c.3533_3534insCCCC (p.Glu1180AlafsTer?)
c.3659_3660insCCCC (p.Glu1222AlafsTer?)
c.2948_2949insCCCC (p.Glu985AlafsTer?)
c.3597+660_3597+661insCCCC (n.3597+660_3597+661insCCCC)
c.3547+1199_3547+1200insCCCC (n.3547+1199_3547+1200insCCCC)
c.2885_2886insCCCC (p.Glu964AlafsTer?)
c.2852_2853insCCCC (p.Glu953AlafsTer?)
c.3065_3066insCCCC (p.Glu1024AlafsTer?)
 gnomAD v2 gnomAD v4
Xg.53235124_53235125insGGGGGGCA641903972IQSEC2c.3722_3723insCCCCCC (p.Pro1241_Pro1242insProPro)
c.1453+660_1453+661insCCCCCC
c.962+660_962+661insCCCCCC
c.316+1199_316+1200insCCCCCC (n.316+1199_316+1200insCCCCCC)
c.514+1199_514+1200insCCCCCC (n.514+1199_514+1200insCCCCCC)
n.543_544insCCCCCC
c.*48_*49insCCCCCC (n.*48_*49insCCCCCC)
c.3563_3564insCCCCCC (p.Pro1188_Pro1189insProPro)
c.3533_3534insCCCCCC (p.Pro1178_Pro1179insProPro)
c.3659_3660insCCCCCC (p.Pro1220_Pro1221insProPro)
c.2948_2949insCCCCCC (p.Pro983_Pro984insProPro)
c.3597+660_3597+661insCCCCCC (n.3597+660_3597+661insCCCCCC)
c.3547+1199_3547+1200insCCCCCC (n.3547+1199_3547+1200insCCCCCC)
c.2885_2886insCCCCCC (p.Pro962_Pro963insProPro)
c.2852_2853insCCCCCC (p.Pro951_Pro952insProPro)
c.3065_3066insCCCCCC (p.Pro1022_Pro1023insProPro)
 gnomAD v2 gnomAD v4
Xg.53235124_53235125insGGGGGGGCA2693794476IQSEC2c.3722_3723insCCCCCCC (p.Glu1243ProfsTer?)
c.1453+660_1453+661insCCCCCCC
c.962+660_962+661insCCCCCCC
c.316+1199_316+1200insCCCCCCC (n.316+1199_316+1200insCCCCCCC)
c.514+1199_514+1200insCCCCCCC (n.514+1199_514+1200insCCCCCCC)
n.543_544insCCCCCCC
c.*48_*49insCCCCCCC (n.*48_*49insCCCCCCC)
c.3563_3564insCCCCCCC (p.Glu1190ProfsTer?)
c.3533_3534insCCCCCCC (p.Glu1180ProfsTer?)
c.3659_3660insCCCCCCC (p.Glu1222ProfsTer?)
c.2948_2949insCCCCCCC (p.Glu985ProfsTer?)
c.3597+660_3597+661insCCCCCCC (n.3597+660_3597+661insCCCCCCC)
c.3547+1199_3547+1200insCCCCCCC (n.3547+1199_3547+1200insCCCCCCC)
c.2885_2886insCCCCCCC (p.Glu964ProfsTer?)
c.2852_2853insCCCCCCC (p.Glu953ProfsTer?)
c.3065_3066insCCCCCCC (p.Glu1024ProfsTer?)
 gnomAD v4
Xg.53235124_53235125insGGGGGGGGGCA2693794474IQSEC2c.3722_3723insCCCCCCCCC (p.Pro1241_Pro1242insProProPro)
c.1453+660_1453+661insCCCCCCCCC
c.962+660_962+661insCCCCCCCCC
c.316+1199_316+1200insCCCCCCCCC (n.316+1199_316+1200insCCCCCCCCC)
c.514+1199_514+1200insCCCCCCCCC (n.514+1199_514+1200insCCCCCCCCC)
n.543_544insCCCCCCCCC
c.*48_*49insCCCCCCCCC (n.*48_*49insCCCCCCCCC)
c.3563_3564insCCCCCCCCC (p.Pro1188_Pro1189insProProPro)
c.3533_3534insCCCCCCCCC (p.Pro1178_Pro1179insProProPro)
c.3659_3660insCCCCCCCCC (p.Pro1220_Pro1221insProProPro)
c.2948_2949insCCCCCCCCC (p.Pro983_Pro984insProProPro)
c.3597+660_3597+661insCCCCCCCCC (n.3597+660_3597+661insCCCCCCCCC)
c.3547+1199_3547+1200insCCCCCCCCC (n.3547+1199_3547+1200insCCCCCCCCC)
c.2885_2886insCCCCCCCCC (p.Pro962_Pro963insProProPro)
c.2852_2853insCCCCCCCCC (p.Pro951_Pro952insProProPro)
c.3065_3066insCCCCCCCCC (p.Pro1022_Pro1023insProProPro)
 gnomAD v4
Xg.53235124_53235125insGGGGGGGGGGGGCA2693794471IQSEC2c.3722_3723insCCCCCCCCCCCC (p.Pro1241_Pro1242insProProProPro)
c.1453+660_1453+661insCCCCCCCCCCCC
c.962+660_962+661insCCCCCCCCCCCC
c.316+1199_316+1200insCCCCCCCCCCCC (n.316+1199_316+1200insCCCCCCCCCCCC)
c.514+1199_514+1200insCCCCCCCCCCCC (n.514+1199_514+1200insCCCCCCCCCCCC)
n.543_544insCCCCCCCCCCCC
c.*48_*49insCCCCCCCCCCCC (n.*48_*49insCCCCCCCCCCCC)
c.3563_3564insCCCCCCCCCCCC (p.Pro1188_Pro1189insProProProPro)
c.3533_3534insCCCCCCCCCCCC (p.Pro1178_Pro1179insProProProPro)
c.3659_3660insCCCCCCCCCCCC (p.Pro1220_Pro1221insProProProPro)
c.2948_2949insCCCCCCCCCCCC (p.Pro983_Pro984insProProProPro)
c.3597+660_3597+661insCCCCCCCCCCCC (n.3597+660_3597+661insCCCCCCCCCCCC)
c.3547+1199_3547+1200insCCCCCCCCCCCC (n.3547+1199_3547+1200insCCCCCCCCCCCC)
c.2885_2886insCCCCCCCCCCCC (p.Pro962_Pro963insProProProPro)
c.2852_2853insCCCCCCCCCCCC (p.Pro951_Pro952insProProProPro)
c.3065_3066insCCCCCCCCCCCC (p.Pro1022_Pro1023insProProProPro)
 gnomAD v4
Xg.53235124_53235125insGGGGGGGGGGGGGGGGGGGGGGGGGCA2693794464IQSEC2c.3722_3723insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu1243ProfsTer?)
c.1453+660_1453+661insCCCCCCCCCCCCCCCCCCCCCCCCC
c.962+660_962+661insCCCCCCCCCCCCCCCCCCCCCCCCC
c.316+1199_316+1200insCCCCCCCCCCCCCCCCCCCCCCCCC (n.316+1199_316+1200insCCCCCCCCCCCCCCCCCCCCCCCCC)
c.514+1199_514+1200insCCCCCCCCCCCCCCCCCCCCCCCCC (n.514+1199_514+1200insCCCCCCCCCCCCCCCCCCCCCCCCC)
n.543_544insCCCCCCCCCCCCCCCCCCCCCCCCC
c.*48_*49insCCCCCCCCCCCCCCCCCCCCCCCCC (n.*48_*49insCCCCCCCCCCCCCCCCCCCCCCCCC)
c.3563_3564insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu1190ProfsTer?)
c.3533_3534insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu1180ProfsTer?)
c.3659_3660insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu1222ProfsTer?)
c.2948_2949insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu985ProfsTer?)
c.3597+660_3597+661insCCCCCCCCCCCCCCCCCCCCCCCCC (n.3597+660_3597+661insCCCCCCCCCCCCCCCCCCCCCCCCC)
c.3547+1199_3547+1200insCCCCCCCCCCCCCCCCCCCCCCCCC (n.3547+1199_3547+1200insCCCCCCCCCCCCCCCCCCCCCCCCC)
c.2885_2886insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu964ProfsTer?)
c.2852_2853insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu953ProfsTer?)
c.3065_3066insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu1024ProfsTer?)
 gnomAD v4
Xg.53235126_53235127insTGGGGGGGGGCGCA2693794482IQSEC2c.3722_3723insCCCCCCCACGCC (p.Pro1241_Pro1242insProProThrPro)
c.1453+660_1453+661insCCCCCCCACGCC
c.962+660_962+661insCCCCCCCACGCC
c.316+1199_316+1200insCCCCCCCACGCC (n.316+1199_316+1200insCCCCCCCACGCC)
c.514+1199_514+1200insCCCCCCCACGCC (n.514+1199_514+1200insCCCCCCCACGCC)
n.543_544insCCCCCCCACGCC
c.*48_*49insCCCCCCCACGCC (n.*48_*49insCCCCCCCACGCC)
c.3563_3564insCCCCCCCACGCC (p.Pro1188_Pro1189insProProThrPro)
c.3533_3534insCCCCCCCACGCC (p.Pro1178_Pro1179insProProThrPro)
c.3659_3660insCCCCCCCACGCC (p.Pro1220_Pro1221insProProThrPro)
c.2948_2949insCCCCCCCACGCC (p.Pro983_Pro984insProProThrPro)
c.3597+660_3597+661insCCCCCCCACGCC (n.3597+660_3597+661insCCCCCCCACGCC)
c.3547+1199_3547+1200insCCCCCCCACGCC (n.3547+1199_3547+1200insCCCCCCCACGCC)
c.2885_2886insCCCCCCCACGCC (p.Pro962_Pro963insProProThrPro)
c.2852_2853insCCCCCCCACGCC (p.Pro951_Pro952insProProThrPro)
c.3065_3066insCCCCCCCACGCC (p.Pro1022_Pro1023insProProThrPro)
 gnomAD v4
Xg.53235130_53235131insGGGGGGCGGGGGCA641903970IQSEC2c.3722_3723insCCCCCCCCCGCC (p.Pro1241_Pro1242insProProProPro)
c.1453+660_1453+661insCCCCCCCCCGCC
c.962+660_962+661insCCCCCCCCCGCC
c.316+1199_316+1200insCCCCCCCCCGCC (n.316+1199_316+1200insCCCCCCCCCGCC)
c.514+1199_514+1200insCCCCCCCCCGCC (n.514+1199_514+1200insCCCCCCCCCGCC)
n.543_544insCCCCCCCCCGCC
c.*48_*49insCCCCCCCCCGCC (n.*48_*49insCCCCCCCCCGCC)
c.3563_3564insCCCCCCCCCGCC (p.Pro1188_Pro1189insProProProPro)
c.3533_3534insCCCCCCCCCGCC (p.Pro1178_Pro1179insProProProPro)
c.3659_3660insCCCCCCCCCGCC (p.Pro1220_Pro1221insProProProPro)
c.2948_2949insCCCCCCCCCGCC (p.Pro983_Pro984insProProProPro)
c.3597+660_3597+661insCCCCCCCCCGCC (n.3597+660_3597+661insCCCCCCCCCGCC)
c.3547+1199_3547+1200insCCCCCCCCCGCC (n.3547+1199_3547+1200insCCCCCCCCCGCC)
c.2885_2886insCCCCCCCCCGCC (p.Pro962_Pro963insProProProPro)
c.2852_2853insCCCCCCCCCGCC (p.Pro951_Pro952insProProProPro)
c.3065_3066insCCCCCCCCCGCC (p.Pro1022_Pro1023insProProProPro)
 gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235130_53235131insGGGGGGGGGCGGGGGCA2820950238IQSEC2c.3722_3723insCCCCCCCCCCCCGCC (p.Pro1241_Pro1242insProProProProPro)
c.1453+660_1453+661insCCCCCCCCCCCCGCC
c.962+660_962+661insCCCCCCCCCCCCGCC
c.316+1199_316+1200insCCCCCCCCCCCCGCC (n.316+1199_316+1200insCCCCCCCCCCCCGCC)
c.514+1199_514+1200insCCCCCCCCCCCCGCC (n.514+1199_514+1200insCCCCCCCCCCCCGCC)
n.543_544insCCCCCCCCCCCCGCC
c.*48_*49insCCCCCCCCCCCCGCC (n.*48_*49insCCCCCCCCCCCCGCC)
c.3563_3564insCCCCCCCCCCCCGCC (p.Pro1188_Pro1189insProProProProPro)
c.3533_3534insCCCCCCCCCCCCGCC (p.Pro1178_Pro1179insProProProProPro)
c.3659_3660insCCCCCCCCCCCCGCC (p.Pro1220_Pro1221insProProProProPro)
c.2948_2949insCCCCCCCCCCCCGCC (p.Pro983_Pro984insProProProProPro)
c.3597+660_3597+661insCCCCCCCCCCCCGCC (n.3597+660_3597+661insCCCCCCCCCCCCGCC)
c.3547+1199_3547+1200insCCCCCCCCCCCCGCC (n.3547+1199_3547+1200insCCCCCCCCCCCCGCC)
c.2885_2886insCCCCCCCCCCCCGCC (p.Pro962_Pro963insProProProProPro)
c.2852_2853insCCCCCCCCCCCCGCC (p.Pro951_Pro952insProProProProPro)
c.3065_3066insCCCCCCCCCCCCGCC (p.Pro1022_Pro1023insProProProProPro)
Xg.53235125_53235130dupCA641903969IQSEC2c.3717_3722dup (p.Pro1241_Pro1242insProPro)
c.1453+655_1453+660dup
c.962+655_962+660dup
c.316+1194_316+1199dup (n.316+1194_316+1199dup)
c.514+1194_514+1199dup (n.514+1194_514+1199dup)
n.538_543dup
c.*43_*48dup (n.*43_*48dup)
c.3558_3563dup (p.Pro1188_Pro1189insProPro)
c.3528_3533dup (p.Pro1178_Pro1179insProPro)
c.3654_3659dup (p.Pro1220_Pro1221insProPro)
c.2943_2948dup (p.Pro983_Pro984insProPro)
c.3597+655_3597+660dup (n.3597+655_3597+660dup)
c.3547+1194_3547+1199dup (n.3547+1194_3547+1199dup)
c.2880_2885dup (p.Pro962_Pro963insProPro)
c.2847_2852dup (p.Pro951_Pro952insProPro)
c.3060_3065dup (p.Pro1022_Pro1023insProPro)
 gnomAD v2
Xg.53235128_53235139delCA2579614738IQSEC2c.3711_3722del (p.Pro1238_Pro1241del)
c.1453+649_1453+660del
c.962+649_962+660del
c.316+1188_316+1199del (n.316+1188_316+1199del)
c.514+1188_514+1199del (n.514+1188_514+1199del)
n.532_543del
c.*37_*48del (n.*37_*48del)
c.3552_3563del (p.Pro1185_Pro1188del)
c.3522_3533del (p.Pro1175_Pro1178del)
c.3648_3659del (p.Pro1217_Pro1220del)
c.2937_2948del (p.Pro980_Pro983del)
c.3597+649_3597+660del (n.3597+649_3597+660del)
c.3547+1188_3547+1199del (n.3547+1188_3547+1199del)
c.2874_2885del (p.Pro959_Pro962del)
c.2841_2852del (p.Pro948_Pro951del)
c.3054_3065del (p.Pro1019_Pro1022del)
 gnomAD v4
Xg.53235124G>ACA413142434IQSEC2c.3721C>T (p.Pro1241Ser)
c.1453+659C>T
c.962+659C>T
c.316+1198C>T (n.316+1198C>T)
c.514+1198C>T (n.514+1198C>T)
n.542C>T
c.*47C>T (n.*47C>T)
c.3562C>T (p.Pro1188Ser)
c.3532C>T (p.Pro1178Ser)
c.3658C>T (p.Pro1220Ser)
c.2947C>T (p.Pro983Ser)
c.3597+659C>T (n.3597+659C>T)
c.3547+1198C>T (n.3547+1198C>T)
c.2884C>T (p.Pro962Ser)
c.2851C>T (p.Pro951Ser)
c.3064C>T (p.Pro1022Ser)
 gnomAD v4
Xg.53235124G>CCA413142435IQSEC2c.3721C>G (p.Pro1241Ala)
c.1453+659C>G
c.962+659C>G
c.316+1198C>G (n.316+1198C>G)
c.514+1198C>G (n.514+1198C>G)
n.542C>G
c.*47C>G (n.*47C>G)
c.3562C>G (p.Pro1188Ala)
c.3532C>G (p.Pro1178Ala)
c.3658C>G (p.Pro1220Ala)
c.2947C>G (p.Pro983Ala)
c.3597+659C>G (n.3597+659C>G)
c.3547+1198C>G (n.3547+1198C>G)
c.2884C>G (p.Pro962Ala)
c.2851C>G (p.Pro951Ala)
c.3064C>G (p.Pro1022Ala)
Xg.53235124G>TCA413142440IQSEC2c.3721C>A (p.Pro1241Thr)
c.1453+659C>A
c.962+659C>A
c.316+1198C>A (n.316+1198C>A)
c.514+1198C>A (n.514+1198C>A)
n.542C>A
c.*47C>A (n.*47C>A)
c.3562C>A (p.Pro1188Thr)
c.3532C>A (p.Pro1178Thr)
c.3658C>A (p.Pro1220Thr)
c.2947C>A (p.Pro983Thr)
c.3597+659C>A (n.3597+659C>A)
c.3547+1198C>A (n.3547+1198C>A)
c.2884C>A (p.Pro962Thr)
c.2851C>A (p.Pro951Thr)
c.3064C>A (p.Pro1022Thr)
 gnomAD v4
Xg.53235124_53235125delinsGCCA2429770700IQSEC2c.3720_3721delinsGC (p.Pro1240=)
c.1453+658_1453+659delinsGC
c.962+658_962+659delinsGC
c.316+1197_316+1198delinsGC (n.316+1197_316+1198delinsGC)
c.514+1197_514+1198delinsGC (n.514+1197_514+1198delinsGC)
n.541_542delinsGC
c.*46_*47delinsGC (n.*46_*47delinsGC)
c.3561_3562delinsGC (p.Pro1187=)
c.3531_3532delinsGC (p.Pro1177=)
c.3657_3658delinsGC (p.Pro1219=)
c.2946_2947delinsGC (p.Pro982=)
c.3597+658_3597+659delinsGC (n.3597+658_3597+659delinsGC)
c.3547+1197_3547+1198delinsGC (n.3547+1197_3547+1198delinsGC)
c.2883_2884delinsGC (p.Pro961=)
c.2850_2851delinsGC (p.Pro950=)
c.3063_3064delinsGC (p.Pro1021=)
Xg.53235125delCA641903973IQSEC2c.3720del (p.Pro1241ArgfsTer?)
c.1453+658del
c.962+658del
c.316+1197del (n.316+1197del)
c.514+1197del (n.514+1197del)
n.541del
c.*46del (n.*46del)
c.3561del (p.Pro1188ArgfsTer?)
c.3531del (p.Pro1178ArgfsTer?)
c.3657del (p.Pro1220ArgfsTer?)
c.2946del (p.Pro983ArgfsTer?)
c.3597+658del (n.3597+658del)
c.3547+1197del (n.3547+1197del)
c.2883del (p.Pro962ArgfsTer?)
c.2850del (p.Pro951ArgfsTer?)
c.3063del (p.Pro1022ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
Xg.53235125C>ACA516674028IQSEC2c.3720G>T (p.Pro1240=)
c.1453+658G>T
c.962+658G>T
c.316+1197G>T (n.316+1197G>T)
c.514+1197G>T (n.514+1197G>T)
n.541G>T
c.*46G>T (n.*46G>T)
c.3561G>T (p.Pro1187=)
c.3531G>T (p.Pro1177=)
c.3657G>T (p.Pro1219=)
c.2946G>T (p.Pro982=)
c.3597+658G>T (n.3597+658G>T)
c.3547+1197G>T (n.3547+1197G>T)
c.2883G>T (p.Pro961=)
c.2850G>T (p.Pro950=)
c.3063G>T (p.Pro1021=)
 gnomAD v4
Xg.53235125C=CA2429770701IQSEC2c.3720G= (p.Pro1240=)
c.1453+658G=
c.962+658G=
c.316+1197G= (n.316+1197G=)
c.514+1197G= (n.514+1197G=)
n.541G=
c.*46G= (n.*46G=)
c.3561G= (p.Pro1187=)
c.3531G= (p.Pro1177=)
c.3657G= (p.Pro1219=)
c.2946G= (p.Pro982=)
c.3597+658G= (n.3597+658G=)
c.3547+1197G= (n.3547+1197G=)
c.2883G= (p.Pro961=)
c.2850G= (p.Pro950=)
c.3063G= (p.Pro1021=)
Xg.53235125C>GCA516674031IQSEC2c.3720G>C (p.Pro1240=)
c.1453+658G>C
c.962+658G>C
c.316+1197G>C (n.316+1197G>C)
c.514+1197G>C (n.514+1197G>C)
n.541G>C
c.*46G>C (n.*46G>C)
c.3561G>C (p.Pro1187=)
c.3531G>C (p.Pro1177=)
c.3657G>C (p.Pro1219=)
c.2946G>C (p.Pro982=)
c.3597+658G>C (n.3597+658G>C)
c.3547+1197G>C (n.3547+1197G>C)
c.2883G>C (p.Pro961=)
c.2850G>C (p.Pro950=)
c.3063G>C (p.Pro1021=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53235125C>TCA516674030IQSEC2c.3720G>A (p.Pro1240=)
c.1453+658G>A
c.962+658G>A
c.316+1197G>A (n.316+1197G>A)
c.514+1197G>A (n.514+1197G>A)
n.541G>A
c.*46G>A (n.*46G>A)
c.3561G>A (p.Pro1187=)
c.3531G>A (p.Pro1177=)
c.3657G>A (p.Pro1219=)
c.2946G>A (p.Pro982=)
c.3597+658G>A (n.3597+658G>A)
c.3547+1197G>A (n.3547+1197G>A)
c.2883G>A (p.Pro961=)
c.2850G>A (p.Pro950=)
c.3063G>A (p.Pro1021=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched