Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53235098_53235126del | CA2693794361 | IQSEC2 | c.3720_3748del (p.Pro1241ArgfsTer?) c.1453+658_1453+686del c.962+658_962+686del c.316+1197_316+1225del (n.316+1197_316+1225del) c.514+1197_514+1225del (n.514+1197_514+1225del) n.541_569del c.*46_*74del (n.*46_*74del) c.3561_3589del (p.Pro1188ArgfsTer?) c.3531_3559del (p.Pro1178ArgfsTer?) c.3657_3685del (p.Pro1220ArgfsTer?) c.2946_2974del (p.Pro983ArgfsTer?) c.3597+658_3597+686del (n.3597+658_3597+686del) c.3547+1197_3547+1225del (n.3547+1197_3547+1225del) c.2883_2911del (p.Pro962ArgfsTer?) c.2850_2878del (p.Pro951ArgfsTer?) c.3063_3091del (p.Pro1022ArgfsTer?) | gnomAD v4 |
X | g.53235122_53235133del | CA2693794425 | IQSEC2 | c.3715_3726del (p.Pro1239_Pro1242del) c.1453+653_1453+664del c.962+653_962+664del c.316+1192_316+1203del (n.316+1192_316+1203del) c.514+1192_514+1203del (n.514+1192_514+1203del) n.536_547del c.*41_*52del (n.*41_*52del) c.3556_3567del (p.Pro1186_Pro1189del) c.3526_3537del (p.Pro1176_Pro1179del) c.3652_3663del (p.Pro1218_Pro1221del) c.2941_2952del (p.Pro981_Pro984del) c.3597+653_3597+664del (n.3597+653_3597+664del) c.3547+1192_3547+1203del (n.3547+1192_3547+1203del) c.2878_2889del (p.Pro960_Pro963del) c.2845_2856del (p.Pro949_Pro952del) c.3058_3069del (p.Pro1020_Pro1023del) | gnomAD v4 |
X | g.53235125_53235139del | CA2693794435 | IQSEC2 | c.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 |
X | g.53235126_53235127insTGGGGGGGGGCG | CA2693794482 | IQSEC2 | c.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 |
X | g.53235130_53235131insGGGGGGCGGGGG | CA641903970 | IQSEC2 | c.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 |
X | g.53235130_53235131insGGGGGGGGGCGGGGG | CA2820950238 | IQSEC2 | c.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) | |
X | g.53235125_53235130dup | CA641903969 | IQSEC2 | c.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 |
X | g.53235128_53235139del | CA2579614738 | IQSEC2 | c.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 |
X | g.53235126G>A | CA413142442 | IQSEC2 | c.3719C>T (p.Pro1240Leu) c.1453+657C>T c.962+657C>T c.316+1196C>T (n.316+1196C>T) c.514+1196C>T (n.514+1196C>T) n.540C>T c.*45C>T (n.*45C>T) c.3560C>T (p.Pro1187Leu) c.3530C>T (p.Pro1177Leu) c.3656C>T (p.Pro1219Leu) c.2945C>T (p.Pro982Leu) c.3597+657C>T (n.3597+657C>T) c.3547+1196C>T (n.3547+1196C>T) c.2882C>T (p.Pro961Leu) c.2849C>T (p.Pro950Leu) c.3062C>T (p.Pro1021Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53235126G>C | CA413142444 | IQSEC2 | c.3719C>G (p.Pro1240Arg) c.1453+657C>G c.962+657C>G c.316+1196C>G (n.316+1196C>G) c.514+1196C>G (n.514+1196C>G) n.540C>G c.*45C>G (n.*45C>G) c.3560C>G (p.Pro1187Arg) c.3530C>G (p.Pro1177Arg) c.3656C>G (p.Pro1219Arg) c.2945C>G (p.Pro982Arg) c.3597+657C>G (n.3597+657C>G) c.3547+1196C>G (n.3547+1196C>G) c.2882C>G (p.Pro961Arg) c.2849C>G (p.Pro950Arg) c.3062C>G (p.Pro1021Arg) | |
X | g.53235126G= | CA2429770702 | IQSEC2 | c.3719C= (p.Pro1240=) c.1453+657C= c.962+657C= c.316+1196C= (n.316+1196C=) c.514+1196C= (n.514+1196C=) n.540C= c.*45C= (n.*45C=) c.3560C= (p.Pro1187=) c.3530C= (p.Pro1177=) c.3656C= (p.Pro1219=) c.2945C= (p.Pro982=) c.3597+657C= (n.3597+657C=) c.3547+1196C= (n.3547+1196C=) c.2882C= (p.Pro961=) c.2849C= (p.Pro950=) c.3062C= (p.Pro1021=) | |
X | g.53235126G>T | CA413142446 | IQSEC2 | c.3719C>A (p.Pro1240Gln) c.1453+657C>A c.962+657C>A c.316+1196C>A (n.316+1196C>A) c.514+1196C>A (n.514+1196C>A) n.540C>A c.*45C>A (n.*45C>A) c.3560C>A (p.Pro1187Gln) c.3530C>A (p.Pro1177Gln) c.3656C>A (p.Pro1219Gln) c.2945C>A (p.Pro982Gln) c.3597+657C>A (n.3597+657C>A) c.3547+1196C>A (n.3547+1196C>A) c.2882C>A (p.Pro961Gln) c.2849C>A (p.Pro950Gln) c.3062C>A (p.Pro1021Gln) | gnomAD v4 |
X | g.53235130_53235131insGGGGGG | CA2693794526 | IQSEC2 | c.3719_3720insCCCCCC (p.Pro1240_Pro1241insProPro) c.1453+657_1453+658insCCCCCC c.962+657_962+658insCCCCCC c.316+1196_316+1197insCCCCCC (n.316+1196_316+1197insCCCCCC) c.514+1196_514+1197insCCCCCC (n.514+1196_514+1197insCCCCCC) n.540_541insCCCCCC c.*45_*46insCCCCCC (n.*45_*46insCCCCCC) c.3560_3561insCCCCCC (p.Pro1187_Pro1188insProPro) c.3530_3531insCCCCCC (p.Pro1177_Pro1178insProPro) c.3656_3657insCCCCCC (p.Pro1219_Pro1220insProPro) c.2945_2946insCCCCCC (p.Pro982_Pro983insProPro) c.3597+657_3597+658insCCCCCC (n.3597+657_3597+658insCCCCCC) c.3547+1196_3547+1197insCCCCCC (n.3547+1196_3547+1197insCCCCCC) c.2882_2883insCCCCCC (p.Pro961_Pro962insProPro) c.2849_2850insCCCCCC (p.Pro950_Pro951insProPro) c.3062_3063insCCCCCC (p.Pro1021_Pro1022insProPro) | gnomAD v4 |
X | g.53235130_53235131insGGGGGGG | CA641903976 | IQSEC2 | c.3719_3720insCCCCCCC (p.Glu1243AlafsTer?) c.1453+657_1453+658insCCCCCCC c.962+657_962+658insCCCCCCC c.316+1196_316+1197insCCCCCCC (n.316+1196_316+1197insCCCCCCC) c.514+1196_514+1197insCCCCCCC (n.514+1196_514+1197insCCCCCCC) n.540_541insCCCCCCC c.*45_*46insCCCCCCC (n.*45_*46insCCCCCCC) c.3560_3561insCCCCCCC (p.Glu1190AlafsTer?) c.3530_3531insCCCCCCC (p.Glu1180AlafsTer?) c.3656_3657insCCCCCCC (p.Glu1222AlafsTer?) c.2945_2946insCCCCCCC (p.Glu985AlafsTer?) c.3597+657_3597+658insCCCCCCC (n.3597+657_3597+658insCCCCCCC) c.3547+1196_3547+1197insCCCCCCC (n.3547+1196_3547+1197insCCCCCCC) c.2882_2883insCCCCCCC (p.Glu964AlafsTer?) c.2849_2850insCCCCCCC (p.Glu953AlafsTer?) c.3062_3063insCCCCCCC (p.Glu1024AlafsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235130_53235131insGGGGGGGG | CA2693794523 | IQSEC2 | c.3719_3720insCCCCCCCC (p.Glu1243ArgfsTer?) c.1453+657_1453+658insCCCCCCCC c.962+657_962+658insCCCCCCCC c.316+1196_316+1197insCCCCCCCC (n.316+1196_316+1197insCCCCCCCC) c.514+1196_514+1197insCCCCCCCC (n.514+1196_514+1197insCCCCCCCC) n.540_541insCCCCCCCC c.*45_*46insCCCCCCCC (n.*45_*46insCCCCCCCC) c.3560_3561insCCCCCCCC (p.Glu1190ArgfsTer?) c.3530_3531insCCCCCCCC (p.Glu1180ArgfsTer?) c.3656_3657insCCCCCCCC (p.Glu1222ArgfsTer?) c.2945_2946insCCCCCCCC (p.Glu985ArgfsTer?) c.3597+657_3597+658insCCCCCCCC (n.3597+657_3597+658insCCCCCCCC) c.3547+1196_3547+1197insCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCC) c.2882_2883insCCCCCCCC (p.Glu964ArgfsTer?) c.2849_2850insCCCCCCCC (p.Glu953ArgfsTer?) c.3062_3063insCCCCCCCC (p.Glu1024ArgfsTer?) | gnomAD v4 |
X | g.53235130_53235131insCGGGGGGGG | CA2693794528 | IQSEC2 | c.3719_3720insCCCGCCCCC (p.Pro1240_Pro1241insProProPro) c.1453+657_1453+658insCCCGCCCCC c.962+657_962+658insCCCGCCCCC c.316+1196_316+1197insCCCGCCCCC (n.316+1196_316+1197insCCCGCCCCC) c.514+1196_514+1197insCCCGCCCCC (n.514+1196_514+1197insCCCGCCCCC) n.540_541insCCCGCCCCC c.*45_*46insCCCGCCCCC (n.*45_*46insCCCGCCCCC) c.3560_3561insCCCGCCCCC (p.Pro1187_Pro1188insProProPro) c.3530_3531insCCCGCCCCC (p.Pro1177_Pro1178insProProPro) c.3656_3657insCCCGCCCCC (p.Pro1219_Pro1220insProProPro) c.2945_2946insCCCGCCCCC (p.Pro982_Pro983insProProPro) c.3597+657_3597+658insCCCGCCCCC (n.3597+657_3597+658insCCCGCCCCC) c.3547+1196_3547+1197insCCCGCCCCC (n.3547+1196_3547+1197insCCCGCCCCC) c.2882_2883insCCCGCCCCC (p.Pro961_Pro962insProProPro) c.2849_2850insCCCGCCCCC (p.Pro950_Pro951insProProPro) c.3062_3063insCCCGCCCCC (p.Pro1021_Pro1022insProProPro) | gnomAD v4 |
X | g.53235130_53235131insGGGGGGGGG | CA641903975 | IQSEC2 | c.3719_3720insCCCCCCCCC (p.Pro1240_Pro1241insProProPro) c.1453+657_1453+658insCCCCCCCCC c.962+657_962+658insCCCCCCCCC c.316+1196_316+1197insCCCCCCCCC (n.316+1196_316+1197insCCCCCCCCC) c.514+1196_514+1197insCCCCCCCCC (n.514+1196_514+1197insCCCCCCCCC) n.540_541insCCCCCCCCC c.*45_*46insCCCCCCCCC (n.*45_*46insCCCCCCCCC) c.3560_3561insCCCCCCCCC (p.Pro1187_Pro1188insProProPro) c.3530_3531insCCCCCCCCC (p.Pro1177_Pro1178insProProPro) c.3656_3657insCCCCCCCCC (p.Pro1219_Pro1220insProProPro) c.2945_2946insCCCCCCCCC (p.Pro982_Pro983insProProPro) c.3597+657_3597+658insCCCCCCCCC (n.3597+657_3597+658insCCCCCCCCC) c.3547+1196_3547+1197insCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCCC) c.2882_2883insCCCCCCCCC (p.Pro961_Pro962insProProPro) c.2849_2850insCCCCCCCCC (p.Pro950_Pro951insProProPro) c.3062_3063insCCCCCCCCC (p.Pro1021_Pro1022insProProPro) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235130_53235131insGGGGGGGGGG | CA641903977 | IQSEC2 | c.3719_3720insCCCCCCCCCC (p.Glu1243ProfsTer?) c.1453+657_1453+658insCCCCCCCCCC c.962+657_962+658insCCCCCCCCCC c.316+1196_316+1197insCCCCCCCCCC (n.316+1196_316+1197insCCCCCCCCCC) c.514+1196_514+1197insCCCCCCCCCC (n.514+1196_514+1197insCCCCCCCCCC) n.540_541insCCCCCCCCCC c.*45_*46insCCCCCCCCCC (n.*45_*46insCCCCCCCCCC) c.3560_3561insCCCCCCCCCC (p.Glu1190ProfsTer?) c.3530_3531insCCCCCCCCCC (p.Glu1180ProfsTer?) c.3656_3657insCCCCCCCCCC (p.Glu1222ProfsTer?) c.2945_2946insCCCCCCCCCC (p.Glu985ProfsTer?) c.3597+657_3597+658insCCCCCCCCCC (n.3597+657_3597+658insCCCCCCCCCC) c.3547+1196_3547+1197insCCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCCCC) c.2882_2883insCCCCCCCCCC (p.Glu964ProfsTer?) c.2849_2850insCCCCCCCCCC (p.Glu953ProfsTer?) c.3062_3063insCCCCCCCCCC (p.Glu1024ProfsTer?) | gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235130_53235131insGGGGGGGGGGGG | CA1133160160 | IQSEC2 | c.3719_3720insCCCCCCCCCCCC (p.Pro1240_Pro1241insProProProPro) c.1453+657_1453+658insCCCCCCCCCCCC c.962+657_962+658insCCCCCCCCCCCC c.316+1196_316+1197insCCCCCCCCCCCC (n.316+1196_316+1197insCCCCCCCCCCCC) c.514+1196_514+1197insCCCCCCCCCCCC (n.514+1196_514+1197insCCCCCCCCCCCC) n.540_541insCCCCCCCCCCCC c.*45_*46insCCCCCCCCCCCC (n.*45_*46insCCCCCCCCCCCC) c.3560_3561insCCCCCCCCCCCC (p.Pro1187_Pro1188insProProProPro) c.3530_3531insCCCCCCCCCCCC (p.Pro1177_Pro1178insProProProPro) c.3656_3657insCCCCCCCCCCCC (p.Pro1219_Pro1220insProProProPro) c.2945_2946insCCCCCCCCCCCC (p.Pro982_Pro983insProProProPro) c.3597+657_3597+658insCCCCCCCCCCCC (n.3597+657_3597+658insCCCCCCCCCCCC) c.3547+1196_3547+1197insCCCCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCCCCCC) c.2882_2883insCCCCCCCCCCCC (p.Pro961_Pro962insProProProPro) c.2849_2850insCCCCCCCCCCCC (p.Pro950_Pro951insProProProPro) c.3062_3063insCCCCCCCCCCCC (p.Pro1021_Pro1022insProProProPro) | gnomAD v3 gnomAD v4 |
X | g.53235130_53235131insGGGTGGGGGGGGGGG | CA2693794518 | IQSEC2 | c.3719_3720insCCCCCCACCCCCCCC (p.Pro1240_Pro1241insProProProProPro) c.1453+657_1453+658insCCCCCCACCCCCCCC c.962+657_962+658insCCCCCCACCCCCCCC c.316+1196_316+1197insCCCCCCACCCCCCCC (n.316+1196_316+1197insCCCCCCACCCCCCCC) c.514+1196_514+1197insCCCCCCACCCCCCCC (n.514+1196_514+1197insCCCCCCACCCCCCCC) n.540_541insCCCCCCACCCCCCCC c.*45_*46insCCCCCCACCCCCCCC (n.*45_*46insCCCCCCACCCCCCCC) c.3560_3561insCCCCCCACCCCCCCC (p.Pro1187_Pro1188insProProProProPro) c.3530_3531insCCCCCCACCCCCCCC (p.Pro1177_Pro1178insProProProProPro) c.3656_3657insCCCCCCACCCCCCCC (p.Pro1219_Pro1220insProProProProPro) c.2945_2946insCCCCCCACCCCCCCC (p.Pro982_Pro983insProProProProPro) c.3597+657_3597+658insCCCCCCACCCCCCCC (n.3597+657_3597+658insCCCCCCACCCCCCCC) c.3547+1196_3547+1197insCCCCCCACCCCCCCC (n.3547+1196_3547+1197insCCCCCCACCCCCCCC) c.2882_2883insCCCCCCACCCCCCCC (p.Pro961_Pro962insProProProProPro) c.2849_2850insCCCCCCACCCCCCCC (p.Pro950_Pro951insProProProProPro) c.3062_3063insCCCCCCACCCCCCCC (p.Pro1021_Pro1022insProProProProPro) | gnomAD v4 |
X | g.53235130_53235131insGGGGGCCGGGGGGGGGGGGGGG | CA2820950254 | IQSEC2 | c.3719_3720insCCCCCCCCCCGGCCCCCCCCCC (p.Glu1243ProfsTer?) c.1453+657_1453+658insCCCCCCCCCCGGCCCCCCCCCC c.962+657_962+658insCCCCCCCCCCGGCCCCCCCCCC c.316+1196_316+1197insCCCCCCCCCCGGCCCCCCCCCC (n.316+1196_316+1197insCCCCCCCCCCGGCCCCCCCCCC) c.514+1196_514+1197insCCCCCCCCCCGGCCCCCCCCCC (n.514+1196_514+1197insCCCCCCCCCCGGCCCCCCCCCC) n.540_541insCCCCCCCCCCGGCCCCCCCCCC c.*45_*46insCCCCCCCCCCGGCCCCCCCCCC (n.*45_*46insCCCCCCCCCCGGCCCCCCCCCC) c.3560_3561insCCCCCCCCCCGGCCCCCCCCCC (p.Glu1190ProfsTer?) c.3530_3531insCCCCCCCCCCGGCCCCCCCCCC (p.Glu1180ProfsTer?) c.3656_3657insCCCCCCCCCCGGCCCCCCCCCC (p.Glu1222ProfsTer?) c.2945_2946insCCCCCCCCCCGGCCCCCCCCCC (p.Glu985ProfsTer?) c.3597+657_3597+658insCCCCCCCCCCGGCCCCCCCCCC (n.3597+657_3597+658insCCCCCCCCCCGGCCCCCCCCCC) c.3547+1196_3547+1197insCCCCCCCCCCGGCCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCCCCGGCCCCCCCCCC) c.2882_2883insCCCCCCCCCCGGCCCCCCCCCC (p.Glu964ProfsTer?) c.2849_2850insCCCCCCCCCCGGCCCCCCCCCC (p.Glu953ProfsTer?) c.3062_3063insCCCCCCCCCCGGCCCCCCCCCC (p.Glu1024ProfsTer?) | |
X | g.53235130_53235131insGGGGGGGGGGGGGGGGGGGGGG | CA2820950251 | IQSEC2 | c.3719_3720insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1243ProfsTer?) c.1453+657_1453+658insCCCCCCCCCCCCCCCCCCCCCC c.962+657_962+658insCCCCCCCCCCCCCCCCCCCCCC c.316+1196_316+1197insCCCCCCCCCCCCCCCCCCCCCC (n.316+1196_316+1197insCCCCCCCCCCCCCCCCCCCCCC) c.514+1196_514+1197insCCCCCCCCCCCCCCCCCCCCCC (n.514+1196_514+1197insCCCCCCCCCCCCCCCCCCCCCC) n.540_541insCCCCCCCCCCCCCCCCCCCCCC c.*45_*46insCCCCCCCCCCCCCCCCCCCCCC (n.*45_*46insCCCCCCCCCCCCCCCCCCCCCC) c.3560_3561insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1190ProfsTer?) c.3530_3531insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1180ProfsTer?) c.3656_3657insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1222ProfsTer?) c.2945_2946insCCCCCCCCCCCCCCCCCCCCCC (p.Glu985ProfsTer?) c.3597+657_3597+658insCCCCCCCCCCCCCCCCCCCCCC (n.3597+657_3597+658insCCCCCCCCCCCCCCCCCCCCCC) c.3547+1196_3547+1197insCCCCCCCCCCCCCCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCCCCCCCCCCCCCCCC) c.2882_2883insCCCCCCCCCCCCCCCCCCCCCC (p.Glu964ProfsTer?) c.2849_2850insCCCCCCCCCCCCCCCCCCCCCC (p.Glu953ProfsTer?) c.3062_3063insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1024ProfsTer?) | |
X | g.53235130_53235131insGGGGGGCGAGGAGGGGGGGGGGG | CA2820950253 | IQSEC2 | c.3719_3720insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu1243ProfsTer?) c.1453+657_1453+658insCCCCCCTCCTCGCCCCCCCCCCC c.962+657_962+658insCCCCCCTCCTCGCCCCCCCCCCC c.316+1196_316+1197insCCCCCCTCCTCGCCCCCCCCCCC (n.316+1196_316+1197insCCCCCCTCCTCGCCCCCCCCCCC) c.514+1196_514+1197insCCCCCCTCCTCGCCCCCCCCCCC (n.514+1196_514+1197insCCCCCCTCCTCGCCCCCCCCCCC) n.540_541insCCCCCCTCCTCGCCCCCCCCCCC c.*45_*46insCCCCCCTCCTCGCCCCCCCCCCC (n.*45_*46insCCCCCCTCCTCGCCCCCCCCCCC) c.3560_3561insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu1190ProfsTer?) c.3530_3531insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu1180ProfsTer?) c.3656_3657insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu1222ProfsTer?) c.2945_2946insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu985ProfsTer?) c.3597+657_3597+658insCCCCCCTCCTCGCCCCCCCCCCC (n.3597+657_3597+658insCCCCCCTCCTCGCCCCCCCCCCC) c.3547+1196_3547+1197insCCCCCCTCCTCGCCCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCTCCTCGCCCCCCCCCCC) c.2882_2883insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu964ProfsTer?) c.2849_2850insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu953ProfsTer?) c.3062_3063insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu1024ProfsTer?) | |
X | g.53235130_53235131insGCGGGGGGGGGGGGGGGGGGGGGG | CA2693794525 | IQSEC2 | c.3719_3720insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro1240_Pro1241insProProProProProArgProPro) c.1453+657_1453+658insCCCCCCCCCCCCCCCCCGCCCCCC c.962+657_962+658insCCCCCCCCCCCCCCCCCGCCCCCC c.316+1196_316+1197insCCCCCCCCCCCCCCCCCGCCCCCC (n.316+1196_316+1197insCCCCCCCCCCCCCCCCCGCCCCCC) c.514+1196_514+1197insCCCCCCCCCCCCCCCCCGCCCCCC (n.514+1196_514+1197insCCCCCCCCCCCCCCCCCGCCCCCC) n.540_541insCCCCCCCCCCCCCCCCCGCCCCCC c.*45_*46insCCCCCCCCCCCCCCCCCGCCCCCC (n.*45_*46insCCCCCCCCCCCCCCCCCGCCCCCC) c.3560_3561insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro1187_Pro1188insProProProProProArgProPro) c.3530_3531insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro1177_Pro1178insProProProProProArgProPro) c.3656_3657insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro1219_Pro1220insProProProProProArgProPro) c.2945_2946insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro982_Pro983insProProProProProArgProPro) c.3597+657_3597+658insCCCCCCCCCCCCCCCCCGCCCCCC (n.3597+657_3597+658insCCCCCCCCCCCCCCCCCGCCCCCC) c.3547+1196_3547+1197insCCCCCCCCCCCCCCCCCGCCCCCC (n.3547+1196_3547+1197insCCCCCCCCCCCCCCCCCGCCCCCC) c.2882_2883insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro961_Pro962insProProProProProArgProPro) c.2849_2850insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro950_Pro951insProProProProProArgProPro) c.3062_3063insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro1021_Pro1022insProProProProProArgProPro) | gnomAD v4 |
X | g.53235130dup | CA2820950248 | IQSEC2 | c.3719dup (p.Pro1241AlafsTer?) c.1453+657dup c.962+657dup c.316+1196dup (n.316+1196dup) c.514+1196dup (n.514+1196dup) n.540dup c.*45dup (n.*45dup) c.3560dup (p.Pro1188AlafsTer?) c.3530dup (p.Pro1178AlafsTer?) c.3656dup (p.Pro1220AlafsTer?) c.2945dup (p.Pro983AlafsTer?) c.3597+657dup (n.3597+657dup) c.3547+1196dup (n.3547+1196dup) c.2882dup (p.Pro962AlafsTer?) c.2849dup (p.Pro951AlafsTer?) c.3062dup (p.Pro1022AlafsTer?) | |
X | g.53235128_53235130dup | CA641903974 | IQSEC2 | c.3717_3719dup (p.Pro1240_Pro1241insPro) c.1453+655_1453+657dup c.962+655_962+657dup c.316+1194_316+1196dup (n.316+1194_316+1196dup) c.514+1194_514+1196dup (n.514+1194_514+1196dup) n.538_540dup c.*43_*45dup (n.*43_*45dup) c.3558_3560dup (p.Pro1187_Pro1188insPro) c.3528_3530dup (p.Pro1177_Pro1178insPro) c.3654_3656dup (p.Pro1219_Pro1220insPro) c.2943_2945dup (p.Pro982_Pro983insPro) c.3597+655_3597+657dup (n.3597+655_3597+657dup) c.3547+1194_3547+1196dup (n.3547+1194_3547+1196dup) c.2880_2882dup (p.Pro961_Pro962insPro) c.2847_2849dup (p.Pro950_Pro951insPro) c.3060_3062dup (p.Pro1021_Pro1022insPro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235127_53235130dup | CA2693794532 | IQSEC2 | c.3716_3719dup (p.Pro1242AlafsTer?) c.1453+654_1453+657dup c.962+654_962+657dup c.316+1193_316+1196dup (n.316+1193_316+1196dup) c.514+1193_514+1196dup (n.514+1193_514+1196dup) n.537_540dup c.*42_*45dup (n.*42_*45dup) c.3557_3560dup (p.Pro1189AlafsTer?) c.3527_3530dup (p.Pro1179AlafsTer?) c.3653_3656dup (p.Pro1221AlafsTer?) c.2942_2945dup (p.Pro984AlafsTer?) c.3597+654_3597+657dup (n.3597+654_3597+657dup) c.3547+1193_3547+1196dup (n.3547+1193_3547+1196dup) c.2879_2882dup (p.Pro963AlafsTer?) c.2846_2849dup (p.Pro952AlafsTer?) c.3059_3062dup (p.Pro1023AlafsTer?) | gnomAD v4 |
X | g.53235126_53235130dup | CA2693794530 | IQSEC2 | c.3715_3719dup (p.Pro1242ArgfsTer?) c.1453+653_1453+657dup c.962+653_962+657dup c.316+1192_316+1196dup (n.316+1192_316+1196dup) c.514+1192_514+1196dup (n.514+1192_514+1196dup) n.536_540dup c.*41_*45dup (n.*41_*45dup) c.3556_3560dup (p.Pro1189ArgfsTer?) c.3526_3530dup (p.Pro1179ArgfsTer?) c.3652_3656dup (p.Pro1221ArgfsTer?) c.2941_2945dup (p.Pro984ArgfsTer?) c.3597+653_3597+657dup (n.3597+653_3597+657dup) c.3547+1192_3547+1196dup (n.3547+1192_3547+1196dup) c.2878_2882dup (p.Pro963ArgfsTer?) c.2845_2849dup (p.Pro952ArgfsTer?) c.3058_3062dup (p.Pro1023ArgfsTer?) | gnomAD v4 |
X | g.53235130del | CA2579614745 | IQSEC2 | c.3719del (p.Pro1240ArgfsTer?) c.1453+657del c.962+657del c.316+1196del (n.316+1196del) c.514+1196del (n.514+1196del) n.540del c.*45del (n.*45del) c.3560del (p.Pro1187ArgfsTer?) c.3530del (p.Pro1177ArgfsTer?) c.3656del (p.Pro1219ArgfsTer?) c.2945del (p.Pro982ArgfsTer?) c.3597+657del (n.3597+657del) c.3547+1196del (n.3547+1196del) c.2882del (p.Pro961ArgfsTer?) c.2849del (p.Pro950ArgfsTer?) c.3062del (p.Pro1021ArgfsTer?) | gnomAD v4 |
X | g.53235133_53235134insCAGCCTCTGGGGGGGGGGTGG | CA2820950249 | IQSEC2 | c.3719_3720insCCCCCAGAGGCTGCCACCCCC (p.Pro1240_Pro1241insProGlnArgLeuProProPro) c.1453+657_1453+658insCCCCCAGAGGCTGCCACCCCC c.962+657_962+658insCCCCCAGAGGCTGCCACCCCC c.316+1196_316+1197insCCCCCAGAGGCTGCCACCCCC (n.316+1196_316+1197insCCCCCAGAGGCTGCCACCCCC) c.514+1196_514+1197insCCCCCAGAGGCTGCCACCCCC (n.514+1196_514+1197insCCCCCAGAGGCTGCCACCCCC) n.540_541insCCCCCAGAGGCTGCCACCCCC c.*45_*46insCCCCCAGAGGCTGCCACCCCC (n.*45_*46insCCCCCAGAGGCTGCCACCCCC) c.3560_3561insCCCCCAGAGGCTGCCACCCCC (p.Pro1187_Pro1188insProGlnArgLeuProProPro) c.3530_3531insCCCCCAGAGGCTGCCACCCCC (p.Pro1177_Pro1178insProGlnArgLeuProProPro) c.3656_3657insCCCCCAGAGGCTGCCACCCCC (p.Pro1219_Pro1220insProGlnArgLeuProProPro) c.2945_2946insCCCCCAGAGGCTGCCACCCCC (p.Pro982_Pro983insProGlnArgLeuProProPro) c.3597+657_3597+658insCCCCCAGAGGCTGCCACCCCC (n.3597+657_3597+658insCCCCCAGAGGCTGCCACCCCC) c.3547+1196_3547+1197insCCCCCAGAGGCTGCCACCCCC (n.3547+1196_3547+1197insCCCCCAGAGGCTGCCACCCCC) c.2882_2883insCCCCCAGAGGCTGCCACCCCC (p.Pro961_Pro962insProGlnArgLeuProProPro) c.2849_2850insCCCCCAGAGGCTGCCACCCCC (p.Pro950_Pro951insProGlnArgLeuProProPro) c.3062_3063insCCCCCAGAGGCTGCCACCCCC (p.Pro1021_Pro1022insProGlnArgLeuProProPro) | |
X | g.53235136_53235137insGGGGGGTGGGGG | CA920412496 | IQSEC2 | c.3719_3720insCCCCCCACCCCC (p.Pro1240_Pro1241insProProProPro) c.1453+657_1453+658insCCCCCCACCCCC c.962+657_962+658insCCCCCCACCCCC c.316+1196_316+1197insCCCCCCACCCCC (n.316+1196_316+1197insCCCCCCACCCCC) c.514+1196_514+1197insCCCCCCACCCCC (n.514+1196_514+1197insCCCCCCACCCCC) n.540_541insCCCCCCACCCCC c.*45_*46insCCCCCCACCCCC (n.*45_*46insCCCCCCACCCCC) c.3560_3561insCCCCCCACCCCC (p.Pro1187_Pro1188insProProProPro) c.3530_3531insCCCCCCACCCCC (p.Pro1177_Pro1178insProProProPro) c.3656_3657insCCCCCCACCCCC (p.Pro1219_Pro1220insProProProPro) c.2945_2946insCCCCCCACCCCC (p.Pro982_Pro983insProProProPro) c.3597+657_3597+658insCCCCCCACCCCC (n.3597+657_3597+658insCCCCCCACCCCC) c.3547+1196_3547+1197insCCCCCCACCCCC (n.3547+1196_3547+1197insCCCCCCACCCCC) c.2882_2883insCCCCCCACCCCC (p.Pro961_Pro962insProProProPro) c.2849_2850insCCCCCCACCCCC (p.Pro950_Pro951insProProProPro) c.3062_3063insCCCCCCACCCCC (p.Pro1021_Pro1022insProProProPro) | dbSNP gnomAD v4 |
X | g.53235131_53235136del | CA2693794520 | IQSEC2 | c.3714_3719del (p.Pro1239_Pro1240del) c.1453+652_1453+657del c.962+652_962+657del c.316+1191_316+1196del (n.316+1191_316+1196del) c.514+1191_514+1196del (n.514+1191_514+1196del) n.535_540del c.*40_*45del (n.*40_*45del) c.3555_3560del (p.Pro1186_Pro1187del) c.3525_3530del (p.Pro1176_Pro1177del) c.3651_3656del (p.Pro1218_Pro1219del) c.2940_2945del (p.Pro981_Pro982del) c.3597+652_3597+657del (n.3597+652_3597+657del) c.3547+1191_3547+1196del (n.3547+1191_3547+1196del) c.2877_2882del (p.Pro960_Pro961del) c.2844_2849del (p.Pro949_Pro950del) c.3057_3062del (p.Pro1020_Pro1021del) | gnomAD v4 |
X | g.53235127G>A | CA413142447 | IQSEC2 | c.3718C>T (p.Pro1240Ser) c.1453+656C>T c.962+656C>T c.316+1195C>T (n.316+1195C>T) c.514+1195C>T (n.514+1195C>T) n.539C>T c.*44C>T (n.*44C>T) c.3559C>T (p.Pro1187Ser) c.3529C>T (p.Pro1177Ser) c.3655C>T (p.Pro1219Ser) c.2944C>T (p.Pro982Ser) c.3597+656C>T (n.3597+656C>T) c.3547+1195C>T (n.3547+1195C>T) c.2881C>T (p.Pro961Ser) c.2848C>T (p.Pro950Ser) c.3061C>T (p.Pro1021Ser) | gnomAD v4 |
X | g.53235127G>C | CA413142448 | IQSEC2 | c.3718C>G (p.Pro1240Ala) c.1453+656C>G c.962+656C>G c.316+1195C>G (n.316+1195C>G) c.514+1195C>G (n.514+1195C>G) n.539C>G c.*44C>G (n.*44C>G) c.3559C>G (p.Pro1187Ala) c.3529C>G (p.Pro1177Ala) c.3655C>G (p.Pro1219Ala) c.2944C>G (p.Pro982Ala) c.3597+656C>G (n.3597+656C>G) c.3547+1195C>G (n.3547+1195C>G) c.2881C>G (p.Pro961Ala) c.2848C>G (p.Pro950Ala) c.3061C>G (p.Pro1021Ala) | |
X | g.53235127G>T | CA413142450 | IQSEC2 | c.3718C>A (p.Pro1240Thr) c.1453+656C>A c.962+656C>A c.316+1195C>A (n.316+1195C>A) c.514+1195C>A (n.514+1195C>A) n.539C>A c.*44C>A (n.*44C>A) c.3559C>A (p.Pro1187Thr) c.3529C>A (p.Pro1177Thr) c.3655C>A (p.Pro1219Thr) c.2944C>A (p.Pro982Thr) c.3597+656C>A (n.3597+656C>A) c.3547+1195C>A (n.3547+1195C>A) c.2881C>A (p.Pro961Thr) c.2848C>A (p.Pro950Thr) c.3061C>A (p.Pro1021Thr) | gnomAD v4 |
X | g.53235128G>A | CA516674037 | IQSEC2 | c.3717C>T (p.Pro1239=) c.1453+655C>T c.962+655C>T c.316+1194C>T (n.316+1194C>T) c.514+1194C>T (n.514+1194C>T) n.538C>T c.*43C>T (n.*43C>T) c.3558C>T (p.Pro1186=) c.3528C>T (p.Pro1176=) c.3654C>T (p.Pro1218=) c.2943C>T (p.Pro981=) c.3597+655C>T (n.3597+655C>T) c.3547+1194C>T (n.3547+1194C>T) c.2880C>T (p.Pro960=) c.2847C>T (p.Pro949=) c.3060C>T (p.Pro1020=) | gnomAD v4 |
X | g.53235128G>C | CA516674035 | IQSEC2 | c.3717C>G (p.Pro1239=) c.1453+655C>G c.962+655C>G c.316+1194C>G (n.316+1194C>G) c.514+1194C>G (n.514+1194C>G) n.538C>G c.*43C>G (n.*43C>G) c.3558C>G (p.Pro1186=) c.3528C>G (p.Pro1176=) c.3654C>G (p.Pro1218=) c.2943C>G (p.Pro981=) c.3597+655C>G (n.3597+655C>G) c.3547+1194C>G (n.3547+1194C>G) c.2880C>G (p.Pro960=) c.2847C>G (p.Pro949=) c.3060C>G (p.Pro1020=) | |
X | g.53235128G= | CA2429770703 | IQSEC2 | c.3717C= (p.Pro1239=) c.1453+655C= c.962+655C= c.316+1194C= (n.316+1194C=) c.514+1194C= (n.514+1194C=) n.538C= c.*43C= (n.*43C=) c.3558C= (p.Pro1186=) c.3528C= (p.Pro1176=) c.3654C= (p.Pro1218=) c.2943C= (p.Pro981=) c.3597+655C= (n.3597+655C=) c.3547+1194C= (n.3547+1194C=) c.2880C= (p.Pro960=) c.2847C= (p.Pro949=) c.3060C= (p.Pro1020=) | |
X | g.53235128G>T | CA516674033 | IQSEC2 | c.3717C>A (p.Pro1239=) c.1453+655C>A c.962+655C>A c.316+1194C>A (n.316+1194C>A) c.514+1194C>A (n.514+1194C>A) n.538C>A c.*43C>A (n.*43C>A) c.3558C>A (p.Pro1186=) c.3528C>A (p.Pro1176=) c.3654C>A (p.Pro1218=) c.2943C>A (p.Pro981=) c.3597+655C>A (n.3597+655C>A) c.3547+1194C>A (n.3547+1194C>A) c.2880C>A (p.Pro960=) c.2847C>A (p.Pro949=) c.3060C>A (p.Pro1020=) | dbSNP gnomAD v4 |
X | g.53235129G>A | CA413142457 | IQSEC2 | c.3716C>T (p.Pro1239Leu) c.1453+654C>T c.962+654C>T c.316+1193C>T (n.316+1193C>T) c.514+1193C>T (n.514+1193C>T) n.537C>T c.*42C>T (n.*42C>T) c.3557C>T (p.Pro1186Leu) c.3527C>T (p.Pro1176Leu) c.3653C>T (p.Pro1218Leu) c.2942C>T (p.Pro981Leu) c.3597+654C>T (n.3597+654C>T) c.3547+1193C>T (n.3547+1193C>T) c.2879C>T (p.Pro960Leu) c.2846C>T (p.Pro949Leu) c.3059C>T (p.Pro1020Leu) | gnomAD v4 |
X | g.53235129G>C | CA413142460 | IQSEC2 | c.3716C>G (p.Pro1239Arg) c.1453+654C>G c.962+654C>G c.316+1193C>G (n.316+1193C>G) c.514+1193C>G (n.514+1193C>G) n.537C>G c.*42C>G (n.*42C>G) c.3557C>G (p.Pro1186Arg) c.3527C>G (p.Pro1176Arg) c.3653C>G (p.Pro1218Arg) c.2942C>G (p.Pro981Arg) c.3597+654C>G (n.3597+654C>G) c.3547+1193C>G (n.3547+1193C>G) c.2879C>G (p.Pro960Arg) c.2846C>G (p.Pro949Arg) c.3059C>G (p.Pro1020Arg) | ClinVar |
X | g.53235129G>T | CA413142454 | IQSEC2 | c.3716C>A (p.Pro1239His) c.1453+654C>A c.962+654C>A c.316+1193C>A (n.316+1193C>A) c.514+1193C>A (n.514+1193C>A) n.537C>A c.*42C>A (n.*42C>A) c.3557C>A (p.Pro1186His) c.3527C>A (p.Pro1176His) c.3653C>A (p.Pro1218His) c.2942C>A (p.Pro981His) c.3597+654C>A (n.3597+654C>A) c.3547+1193C>A (n.3547+1193C>A) c.2879C>A (p.Pro960His) c.2846C>A (p.Pro949His) c.3059C>A (p.Pro1020His) | gnomAD v4 |
X | g.53235129_53235131delinsGGT | CA2429770704 | IQSEC2 | c.3714_3716delinsACC (p.Pro1238=) c.1453+652_1453+654delinsACC c.962+652_962+654delinsACC c.316+1191_316+1193delinsACC (n.316+1191_316+1193delinsACC) c.514+1191_514+1193delinsACC (n.514+1191_514+1193delinsACC) n.535_537delinsACC c.*40_*42delinsACC (n.*40_*42delinsACC) c.3555_3557delinsACC (p.Pro1185=) c.3525_3527delinsACC (p.Pro1175=) c.3651_3653delinsACC (p.Pro1217=) c.2940_2942delinsACC (p.Pro980=) c.3597+652_3597+654delinsACC (n.3597+652_3597+654delinsACC) c.3547+1191_3547+1193delinsACC (n.3547+1191_3547+1193delinsACC) c.2877_2879delinsACC (p.Pro959=) c.2844_2846delinsACC (p.Pro948=) c.3057_3059delinsACC (p.Pro1019=) | |
X | g.53235134_53235145del | CA2693794545 | IQSEC2 | c.3705_3716del (p.Pro1236_Pro1239del) c.1453+643_1453+654del c.962+643_962+654del c.316+1182_316+1193del (n.316+1182_316+1193del) c.514+1182_514+1193del (n.514+1182_514+1193del) n.526_537del c.*31_*42del (n.*31_*42del) c.3546_3557del (p.Pro1183_Pro1186del) c.3516_3527del (p.Pro1173_Pro1176del) c.3642_3653del (p.Pro1215_Pro1218del) c.2931_2942del (p.Pro978_Pro981del) c.3597+643_3597+654del (n.3597+643_3597+654del) c.3547+1182_3547+1193del (n.3547+1182_3547+1193del) c.2868_2879del (p.Pro957_Pro960del) c.2835_2846del (p.Pro946_Pro949del) c.3048_3059del (p.Pro1017_Pro1020del) | gnomAD v4 |
X | g.53235131_53235145del | CA2693794547 | IQSEC2 | c.3702_3716del (p.Pro1235_Pro1239del) c.1453+640_1453+654del c.962+640_962+654del c.316+1179_316+1193del (n.316+1179_316+1193del) c.514+1179_514+1193del (n.514+1179_514+1193del) n.523_537del c.*28_*42del (n.*28_*42del) c.3543_3557del (p.Pro1182_Pro1186del) c.3513_3527del (p.Pro1172_Pro1176del) c.3639_3653del (p.Pro1214_Pro1218del) c.2928_2942del (p.Pro977_Pro981del) c.3597+640_3597+654del (n.3597+640_3597+654del) c.3547+1179_3547+1193del (n.3547+1179_3547+1193del) c.2865_2879del (p.Pro956_Pro960del) c.2832_2846del (p.Pro945_Pro949del) c.3045_3059del (p.Pro1016_Pro1020del) | gnomAD v4 |
X | g.53235130G>A | CA413142465 | IQSEC2 | c.3715C>T (p.Pro1239Ser) c.1453+653C>T c.962+653C>T c.316+1192C>T (n.316+1192C>T) c.514+1192C>T (n.514+1192C>T) n.536C>T c.*41C>T (n.*41C>T) c.3556C>T (p.Pro1186Ser) c.3526C>T (p.Pro1176Ser) c.3652C>T (p.Pro1218Ser) c.2941C>T (p.Pro981Ser) c.3597+653C>T (n.3597+653C>T) c.3547+1192C>T (n.3547+1192C>T) c.2878C>T (p.Pro960Ser) c.2845C>T (p.Pro949Ser) c.3058C>T (p.Pro1020Ser) | gnomAD v4 |
X | g.53235130G>C | CA413142472 | IQSEC2 | c.3715C>G (p.Pro1239Ala) c.1453+653C>G c.962+653C>G c.316+1192C>G (n.316+1192C>G) c.514+1192C>G (n.514+1192C>G) n.536C>G c.*41C>G (n.*41C>G) c.3556C>G (p.Pro1186Ala) c.3526C>G (p.Pro1176Ala) c.3652C>G (p.Pro1218Ala) c.2941C>G (p.Pro981Ala) c.3597+653C>G (n.3597+653C>G) c.3547+1192C>G (n.3547+1192C>G) c.2878C>G (p.Pro960Ala) c.2845C>G (p.Pro949Ala) c.3058C>G (p.Pro1020Ala) | gnomAD v3 gnomAD v4 |
X | g.53235130G>T | CA413142468 | IQSEC2 | c.3715C>A (p.Pro1239Thr) c.1453+653C>A c.962+653C>A c.316+1192C>A (n.316+1192C>A) c.514+1192C>A (n.514+1192C>A) n.536C>A c.*41C>A (n.*41C>A) c.3556C>A (p.Pro1186Thr) c.3526C>A (p.Pro1176Thr) c.3652C>A (p.Pro1218Thr) c.2941C>A (p.Pro981Thr) c.3597+653C>A (n.3597+653C>A) c.3547+1192C>A (n.3547+1192C>A) c.2878C>A (p.Pro960Thr) c.2845C>A (p.Pro949Thr) c.3058C>A (p.Pro1020Thr) | gnomAD v4 |
X | g.53235131_53235132del | CA641903978 | IQSEC2 | c.3714_3715del (p.Pro1240AlafsTer?) c.1453+652_1453+653del c.962+652_962+653del c.316+1191_316+1192del (n.316+1191_316+1192del) c.514+1191_514+1192del (n.514+1191_514+1192del) n.535_536del c.*40_*41del (n.*40_*41del) c.3555_3556del (p.Pro1187AlafsTer?) c.3525_3526del (p.Pro1177AlafsTer?) c.3651_3652del (p.Pro1219AlafsTer?) c.2940_2941del (p.Pro982AlafsTer?) c.3597+652_3597+653del (n.3597+652_3597+653del) c.3547+1191_3547+1192del (n.3547+1191_3547+1192del) c.2877_2878del (p.Pro961AlafsTer?) c.2844_2845del (p.Pro950AlafsTer?) c.3057_3058del (p.Pro1021AlafsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235131del | CA2693794553 | IQSEC2 | c.3714del (p.Pro1240ArgfsTer?) c.1453+652del c.962+652del c.316+1191del (n.316+1191del) c.514+1191del (n.514+1191del) n.535del c.*40del (n.*40del) c.3555del (p.Pro1187ArgfsTer?) c.3525del (p.Pro1177ArgfsTer?) c.3651del (p.Pro1219ArgfsTer?) c.2940del (p.Pro982ArgfsTer?) c.3597+652del (n.3597+652del) c.3547+1191del (n.3547+1191del) c.2877del (p.Pro961ArgfsTer?) c.2844del (p.Pro950ArgfsTer?) c.3057del (p.Pro1021ArgfsTer?) | gnomAD v4 |
X | g.53235131T>A | CA516674042 | IQSEC2 | c.3714A>T (p.Pro1238=) c.1453+652A>T c.962+652A>T c.316+1191A>T (n.316+1191A>T) c.514+1191A>T (n.514+1191A>T) n.535A>T c.*40A>T (n.*40A>T) c.3555A>T (p.Pro1185=) c.3525A>T (p.Pro1175=) c.3651A>T (p.Pro1217=) c.2940A>T (p.Pro980=) c.3597+652A>T (n.3597+652A>T) c.3547+1191A>T (n.3547+1191A>T) c.2877A>T (p.Pro959=) c.2844A>T (p.Pro948=) c.3057A>T (p.Pro1019=) | gnomAD v4 |
X | g.53235131T>C | CA516674047 | IQSEC2 | c.3714A>G (p.Pro1238=) c.1453+652A>G c.962+652A>G c.316+1191A>G (n.316+1191A>G) c.514+1191A>G (n.514+1191A>G) n.535A>G c.*40A>G (n.*40A>G) c.3555A>G (p.Pro1185=) c.3525A>G (p.Pro1175=) c.3651A>G (p.Pro1217=) c.2940A>G (p.Pro980=) c.3597+652A>G (n.3597+652A>G) c.3547+1191A>G (n.3547+1191A>G) c.2877A>G (p.Pro959=) c.2844A>G (p.Pro948=) c.3057A>G (p.Pro1019=) | gnomAD v3 gnomAD v4 |
X | g.53235131T>G | CA516674045 | IQSEC2 | c.3714A>C (p.Pro1238=) c.1453+652A>C c.962+652A>C c.316+1191A>C (n.316+1191A>C) c.514+1191A>C (n.514+1191A>C) n.535A>C c.*40A>C (n.*40A>C) c.3555A>C (p.Pro1185=) c.3525A>C (p.Pro1175=) c.3651A>C (p.Pro1217=) c.2940A>C (p.Pro980=) c.3597+652A>C (n.3597+652A>C) c.3547+1191A>C (n.3547+1191A>C) c.2877A>C (p.Pro959=) c.2844A>C (p.Pro948=) c.3057A>C (p.Pro1019=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235131T= | CA2429770705 | IQSEC2 | c.3714A= (p.Pro1238=) c.1453+652A= c.962+652A= c.316+1191A= (n.316+1191A=) c.514+1191A= (n.514+1191A=) n.535A= c.*40A= (n.*40A=) c.3555A= (p.Pro1185=) c.3525A= (p.Pro1175=) c.3651A= (p.Pro1217=) c.2940A= (p.Pro980=) c.3597+652A= (n.3597+652A=) c.3547+1191A= (n.3547+1191A=) c.2877A= (p.Pro959=) c.2844A= (p.Pro948=) c.3057A= (p.Pro1019=) | |
X | g.53235132G>A | CA413142476 | IQSEC2 | c.3713C>T (p.Pro1238Leu) c.1453+651C>T c.962+651C>T c.316+1190C>T (n.316+1190C>T) c.514+1190C>T (n.514+1190C>T) n.534C>T c.*39C>T (n.*39C>T) c.3554C>T (p.Pro1185Leu) c.3524C>T (p.Pro1175Leu) c.3650C>T (p.Pro1217Leu) c.2939C>T (p.Pro980Leu) c.3597+651C>T (n.3597+651C>T) c.3547+1190C>T (n.3547+1190C>T) c.2876C>T (p.Pro959Leu) c.2843C>T (p.Pro948Leu) c.3056C>T (p.Pro1019Leu) | dbSNP gnomAD v2 |
X | g.53235132G>C | CA413142480 | IQSEC2 | c.3713C>G (p.Pro1238Arg) c.1453+651C>G c.962+651C>G c.316+1190C>G (n.316+1190C>G) c.514+1190C>G (n.514+1190C>G) n.534C>G c.*39C>G (n.*39C>G) c.3554C>G (p.Pro1185Arg) c.3524C>G (p.Pro1175Arg) c.3650C>G (p.Pro1217Arg) c.2939C>G (p.Pro980Arg) c.3597+651C>G (n.3597+651C>G) c.3547+1190C>G (n.3547+1190C>G) c.2876C>G (p.Pro959Arg) c.2843C>G (p.Pro948Arg) c.3056C>G (p.Pro1019Arg) | ClinVar dbSNP gnomAD v4 |
X | g.53235132G= | CA2429770706 | IQSEC2 | c.3713C= (p.Pro1238=) c.1453+651C= c.962+651C= c.316+1190C= (n.316+1190C=) c.514+1190C= (n.514+1190C=) n.534C= c.*39C= (n.*39C=) c.3554C= (p.Pro1185=) c.3524C= (p.Pro1175=) c.3650C= (p.Pro1217=) c.2939C= (p.Pro980=) c.3597+651C= (n.3597+651C=) c.3547+1190C= (n.3547+1190C=) c.2876C= (p.Pro959=) c.2843C= (p.Pro948=) c.3056C= (p.Pro1019=) | |
X | g.53235132G>T | CA413142483 | IQSEC2 | c.3713C>A (p.Pro1238Gln) c.1453+651C>A c.962+651C>A c.316+1190C>A (n.316+1190C>A) c.514+1190C>A (n.514+1190C>A) n.534C>A c.*39C>A (n.*39C>A) c.3554C>A (p.Pro1185Gln) c.3524C>A (p.Pro1175Gln) c.3650C>A (p.Pro1217Gln) c.2939C>A (p.Pro980Gln) c.3597+651C>A (n.3597+651C>A) c.3547+1190C>A (n.3547+1190C>A) c.2876C>A (p.Pro959Gln) c.2843C>A (p.Pro948Gln) c.3056C>A (p.Pro1019Gln) | dbSNP gnomAD v4 |
X | g.53235136_53235137insGGGGGG | CA641903980 | IQSEC2 | c.3713_3714insCCCCCC (p.Pro1238_Pro1239insProPro) c.1453+651_1453+652insCCCCCC c.962+651_962+652insCCCCCC c.316+1190_316+1191insCCCCCC (n.316+1190_316+1191insCCCCCC) c.514+1190_514+1191insCCCCCC (n.514+1190_514+1191insCCCCCC) n.534_535insCCCCCC c.*39_*40insCCCCCC (n.*39_*40insCCCCCC) c.3554_3555insCCCCCC (p.Pro1185_Pro1186insProPro) c.3524_3525insCCCCCC (p.Pro1175_Pro1176insProPro) c.3650_3651insCCCCCC (p.Pro1217_Pro1218insProPro) c.2939_2940insCCCCCC (p.Pro980_Pro981insProPro) c.3597+651_3597+652insCCCCCC (n.3597+651_3597+652insCCCCCC) c.3547+1190_3547+1191insCCCCCC (n.3547+1190_3547+1191insCCCCCC) c.2876_2877insCCCCCC (p.Pro959_Pro960insProPro) c.2843_2844insCCCCCC (p.Pro948_Pro949insProPro) c.3056_3057insCCCCCC (p.Pro1019_Pro1020insProPro) | gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGG | CA641903981 | IQSEC2 | c.3713_3714insCCCCCCCCC (p.Pro1238_Pro1239insProProPro) c.1453+651_1453+652insCCCCCCCCC c.962+651_962+652insCCCCCCCCC c.316+1190_316+1191insCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCC) n.534_535insCCCCCCCCC c.*39_*40insCCCCCCCCC (n.*39_*40insCCCCCCCCC) c.3554_3555insCCCCCCCCC (p.Pro1185_Pro1186insProProPro) c.3524_3525insCCCCCCCCC (p.Pro1175_Pro1176insProProPro) c.3650_3651insCCCCCCCCC (p.Pro1217_Pro1218insProProPro) c.2939_2940insCCCCCCCCC (p.Pro980_Pro981insProProPro) c.3597+651_3597+652insCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCC) c.2876_2877insCCCCCCCCC (p.Pro959_Pro960insProProPro) c.2843_2844insCCCCCCCCC (p.Pro948_Pro949insProProPro) c.3056_3057insCCCCCCCCC (p.Pro1019_Pro1020insProProPro) | gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGGG | CA2693794578 | IQSEC2 | c.3713_3714insCCCCCCCCCC (p.Pro1242ThrfsTer?) c.1453+651_1453+652insCCCCCCCCCC c.962+651_962+652insCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCC) n.534_535insCCCCCCCCCC c.*39_*40insCCCCCCCCCC (n.*39_*40insCCCCCCCCCC) c.3554_3555insCCCCCCCCCC (p.Pro1189ThrfsTer?) c.3524_3525insCCCCCCCCCC (p.Pro1179ThrfsTer?) c.3650_3651insCCCCCCCCCC (p.Pro1221ThrfsTer?) c.2939_2940insCCCCCCCCCC (p.Pro984ThrfsTer?) c.3597+651_3597+652insCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCC) c.2876_2877insCCCCCCCCCC (p.Pro963ThrfsTer?) c.2843_2844insCCCCCCCCCC (p.Pro952ThrfsTer?) c.3056_3057insCCCCCCCCCC (p.Pro1023ThrfsTer?) | gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGGGG | CA2693794577 | IQSEC2 | c.3713_3714insCCCCCCCCCCC (p.Pro1242HisfsTer?) c.1453+651_1453+652insCCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCC) n.534_535insCCCCCCCCCCC c.*39_*40insCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCC) c.3554_3555insCCCCCCCCCCC (p.Pro1189HisfsTer?) c.3524_3525insCCCCCCCCCCC (p.Pro1179HisfsTer?) c.3650_3651insCCCCCCCCCCC (p.Pro1221HisfsTer?) c.2939_2940insCCCCCCCCCCC (p.Pro984HisfsTer?) c.3597+651_3597+652insCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCC) c.2876_2877insCCCCCCCCCCC (p.Pro963HisfsTer?) c.2843_2844insCCCCCCCCCCC (p.Pro952HisfsTer?) c.3056_3057insCCCCCCCCCCC (p.Pro1023HisfsTer?) | gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGGGGG | CA641903982 | IQSEC2 | c.3713_3714insCCCCCCCCCCCC (p.Pro1238_Pro1239insProProProPro) c.1453+651_1453+652insCCCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCC) n.534_535insCCCCCCCCCCCC c.*39_*40insCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCC) c.3554_3555insCCCCCCCCCCCC (p.Pro1185_Pro1186insProProProPro) c.3524_3525insCCCCCCCCCCCC (p.Pro1175_Pro1176insProProProPro) c.3650_3651insCCCCCCCCCCCC (p.Pro1217_Pro1218insProProProPro) c.2939_2940insCCCCCCCCCCCC (p.Pro980_Pro981insProProProPro) c.3597+651_3597+652insCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCC) c.2876_2877insCCCCCCCCCCCC (p.Pro959_Pro960insProProProPro) c.2843_2844insCCCCCCCCCCCC (p.Pro948_Pro949insProProProPro) c.3056_3057insCCCCCCCCCCCC (p.Pro1019_Pro1020insProProProPro) | gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGGGGGG | CA2693794576 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCC (p.Glu1243ThrfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCC) n.534_535insCCCCCCCCCCCCC c.*39_*40insCCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCC (p.Glu1190ThrfsTer?) c.3524_3525insCCCCCCCCCCCCC (p.Glu1180ThrfsTer?) c.3650_3651insCCCCCCCCCCCCC (p.Glu1222ThrfsTer?) c.2939_2940insCCCCCCCCCCCCC (p.Glu985ThrfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCC (p.Glu964ThrfsTer?) c.2843_2844insCCCCCCCCCCCCC (p.Glu953ThrfsTer?) c.3056_3057insCCCCCCCCCCCCC (p.Glu1024ThrfsTer?) | gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGGGGGGG | CA1133160179 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCC (p.Glu1243HisfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCC) n.534_535insCCCCCCCCCCCCCC c.*39_*40insCCCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCC (p.Glu1190HisfsTer?) c.3524_3525insCCCCCCCCCCCCCC (p.Glu1180HisfsTer?) c.3650_3651insCCCCCCCCCCCCCC (p.Glu1222HisfsTer?) c.2939_2940insCCCCCCCCCCCCCC (p.Glu985HisfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCC (p.Glu964HisfsTer?) c.2843_2844insCCCCCCCCCCCCCC (p.Glu953HisfsTer?) c.3056_3057insCCCCCCCCCCCCCC (p.Glu1024HisfsTer?) | gnomAD v3 gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGGGGGGGG | CA2820950280 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCC (p.Pro1238_Pro1239insProProProProPro) c.1453+651_1453+652insCCCCCCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCC) n.534_535insCCCCCCCCCCCCCCC c.*39_*40insCCCCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCCC (p.Pro1185_Pro1186insProProProProPro) c.3524_3525insCCCCCCCCCCCCCCC (p.Pro1175_Pro1176insProProProProPro) c.3650_3651insCCCCCCCCCCCCCCC (p.Pro1217_Pro1218insProProProProPro) c.2939_2940insCCCCCCCCCCCCCCC (p.Pro980_Pro981insProProProProPro) c.3597+651_3597+652insCCCCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCCC (p.Pro959_Pro960insProProProProPro) c.2843_2844insCCCCCCCCCCCCCCC (p.Pro948_Pro949insProProProProPro) c.3056_3057insCCCCCCCCCCCCCCC (p.Pro1019_Pro1020insProProProProPro) | |
X | g.53235136_53235137insGGGGGGGGGGGGGGGGG | CA2820950279 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCCCC (p.Glu1243ProfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCCCC) n.534_535insCCCCCCCCCCCCCCCCC c.*39_*40insCCCCCCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCCCCC (p.Glu1190ProfsTer?) c.3524_3525insCCCCCCCCCCCCCCCCC (p.Glu1180ProfsTer?) c.3650_3651insCCCCCCCCCCCCCCCCC (p.Glu1222ProfsTer?) c.2939_2940insCCCCCCCCCCCCCCCCC (p.Glu985ProfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCCCCC (p.Glu964ProfsTer?) c.2843_2844insCCCCCCCCCCCCCCCCC (p.Glu953ProfsTer?) c.3056_3057insCCCCCCCCCCCCCCCCC (p.Glu1024ProfsTer?) | |
X | g.53235136_53235137insGGGGGGGGGGGGGGGGGGGGGG | CA2693794572 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1243ProfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCCCCCCCCC) n.534_535insCCCCCCCCCCCCCCCCCCCCCC c.*39_*40insCCCCCCCCCCCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1190ProfsTer?) c.3524_3525insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1180ProfsTer?) c.3650_3651insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1222ProfsTer?) c.2939_2940insCCCCCCCCCCCCCCCCCCCCCC (p.Glu985ProfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCCCCCCCCCC (p.Glu964ProfsTer?) c.2843_2844insCCCCCCCCCCCCCCCCCCCCCC (p.Glu953ProfsTer?) c.3056_3057insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1024ProfsTer?) | gnomAD v4 |
X | g.53235136_53235137insGGGAGGGGGGGGGGGGGGGGGGG | CA2820950281 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu1243LeufsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCTCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCTCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCTCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCTCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCTCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCTCCCCCCCC) n.534_535insCCCCCCCCCCCCCCTCCCCCCCC c.*39_*40insCCCCCCCCCCCCCCTCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCTCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu1190LeufsTer?) c.3524_3525insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu1180LeufsTer?) c.3650_3651insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu1222LeufsTer?) c.2939_2940insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu985LeufsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCTCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCTCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCTCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCTCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu964LeufsTer?) c.2843_2844insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu953LeufsTer?) c.3056_3057insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu1024LeufsTer?) | |
X | g.53235136_53235137insGCCTGGGGGGGGGGGGGGGGGGG | CA2820950282 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu1243GlnfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCAGGCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCAGGCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCAGGCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCAGGCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGCCCCCC) n.534_535insCCCCCCCCCCCCCCAGGCCCCCC c.*39_*40insCCCCCCCCCCCCCCAGGCCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGCCCCCC) c.3554_3555insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu1190GlnfsTer?) c.3524_3525insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu1180GlnfsTer?) c.3650_3651insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu1222GlnfsTer?) c.2939_2940insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu985GlnfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCAGGCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGCCCCCC) c.2876_2877insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu964GlnfsTer?) c.2843_2844insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu953GlnfsTer?) c.3056_3057insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu1024GlnfsTer?) | |
X | g.53235136_53235137insGCCTGGGGCTCTGGTCCCCCTGGGGGGGGGGGGGGGGGGG | CA2820950278 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu1243GlnfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC) n.534_535insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC c.*39_*40insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC) c.3554_3555insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu1190GlnfsTer?) c.3524_3525insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu1180GlnfsTer?) c.3650_3651insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu1222GlnfsTer?) c.2939_2940insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu985GlnfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC) c.2876_2877insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu964GlnfsTer?) c.2843_2844insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu953GlnfsTer?) c.3056_3057insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu1024GlnfsTer?) | |
X | g.53235136_53235137insGGGGGTGCTGGTTTTTGCCCTCCTGGGGGGGGGGGGGGGGGGG | CA2693794570 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu1243GlnfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC) n.534_535insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC c.*39_*40insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu1190GlnfsTer?) c.3524_3525insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu1180GlnfsTer?) c.3650_3651insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu1222GlnfsTer?) c.2939_2940insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu985GlnfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu964GlnfsTer?) c.2843_2844insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu953GlnfsTer?) c.3056_3057insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu1024GlnfsTer?) | gnomAD v4 |
X | g.53235136_53235137insGGGGGCCTGTGGTTGTGGTCCCCCTGGGGGGGGGGGGGGGGGGG | CA2693794597 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu1243GlnfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC) n.534_535insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC c.*39_*40insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu1190GlnfsTer?) c.3524_3525insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu1180GlnfsTer?) c.3650_3651insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu1222GlnfsTer?) c.2939_2940insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu985GlnfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu964GlnfsTer?) c.2843_2844insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu953GlnfsTer?) c.3056_3057insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu1024GlnfsTer?) | gnomAD v4 |
X | g.53235136_53235137insGGGGCCCTGGGGCTTTTTTCCTCCTGGGGGGGGGGGGGGGGGGG | CA2693794580 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu1243GlnfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC c.962+651_962+652insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC) n.534_535insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC c.*39_*40insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC) c.3554_3555insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu1190GlnfsTer?) c.3524_3525insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu1180GlnfsTer?) c.3650_3651insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu1222GlnfsTer?) c.2939_2940insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu985GlnfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC) c.2876_2877insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu964GlnfsTer?) c.2843_2844insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu953GlnfsTer?) c.3056_3057insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu1024GlnfsTer?) | gnomAD v4 |
X | g.53235136dup | CA2693794596 | IQSEC2 | c.3713dup (p.Pro1239ThrfsTer?) c.1453+651dup c.962+651dup c.316+1190dup (n.316+1190dup) c.514+1190dup (n.514+1190dup) n.534dup c.*39dup (n.*39dup) c.3554dup (p.Pro1186ThrfsTer?) c.3524dup (p.Pro1176ThrfsTer?) c.3650dup (p.Pro1218ThrfsTer?) c.2939dup (p.Pro981ThrfsTer?) c.3597+651dup (n.3597+651dup) c.3547+1190dup (n.3547+1190dup) c.2876dup (p.Pro960ThrfsTer?) c.2843dup (p.Pro949ThrfsTer?) c.3056dup (p.Pro1020ThrfsTer?) | gnomAD v4 |
X | g.53235132_53235136dup | CA2693794593 | IQSEC2 | c.3709_3713dup (p.Pro1240HisfsTer?) c.1453+647_1453+651dup c.962+647_962+651dup c.316+1186_316+1190dup (n.316+1186_316+1190dup) c.514+1186_514+1190dup (n.514+1186_514+1190dup) n.530_534dup c.*35_*39dup (n.*35_*39dup) c.3550_3554dup (p.Pro1187HisfsTer?) c.3520_3524dup (p.Pro1177HisfsTer?) c.3646_3650dup (p.Pro1219HisfsTer?) c.2935_2939dup (p.Pro982HisfsTer?) c.3597+647_3597+651dup (n.3597+647_3597+651dup) c.3547+1186_3547+1190dup (n.3547+1186_3547+1190dup) c.2872_2876dup (p.Pro961HisfsTer?) c.2839_2843dup (p.Pro950HisfsTer?) c.3052_3056dup (p.Pro1021HisfsTer?) | gnomAD v4 |
X | g.53235136del | CA2582342908 | IQSEC2 | c.3713del (p.Pro1238HisfsTer?) c.1453+651del c.962+651del c.316+1190del (n.316+1190del) c.514+1190del (n.514+1190del) n.534del c.*39del (n.*39del) c.3554del (p.Pro1185HisfsTer?) c.3524del (p.Pro1175HisfsTer?) c.3650del (p.Pro1217HisfsTer?) c.2939del (p.Pro980HisfsTer?) c.3597+651del (n.3597+651del) c.3547+1190del (n.3547+1190del) c.2876del (p.Pro959HisfsTer?) c.2843del (p.Pro948HisfsTer?) c.3056del (p.Pro1019HisfsTer?) | ClinVar gnomAD v4 |
X | g.53235137_53235138insCCTGGGGGGGGGGGGGGGGGGGC | CA2693794590 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu1243GlnfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCAGGGCCCCC c.962+651_962+652insCCCCCCCCCCCCCCAGGGCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCAGGGCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGGCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCAGGGCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGGCCCCC) n.534_535insCCCCCCCCCCCCCCAGGGCCCCC c.*39_*40insCCCCCCCCCCCCCCAGGGCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGGCCCCC) c.3554_3555insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu1190GlnfsTer?) c.3524_3525insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu1180GlnfsTer?) c.3650_3651insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu1222GlnfsTer?) c.2939_2940insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu985GlnfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCAGGGCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGGCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGCCCCC) c.2876_2877insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu964GlnfsTer?) c.2843_2844insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu953GlnfsTer?) c.3056_3057insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu1024GlnfsTer?) | gnomAD v4 |
X | g.53235139_53235140insGGGGGGGGGCGG | CA641903979 | IQSEC2 | c.3713_3714insCCCCCCGCCCCC (p.Pro1238_Pro1239insProProProPro) c.1453+651_1453+652insCCCCCCGCCCCC c.962+651_962+652insCCCCCCGCCCCC c.316+1190_316+1191insCCCCCCGCCCCC (n.316+1190_316+1191insCCCCCCGCCCCC) c.514+1190_514+1191insCCCCCCGCCCCC (n.514+1190_514+1191insCCCCCCGCCCCC) n.534_535insCCCCCCGCCCCC c.*39_*40insCCCCCCGCCCCC (n.*39_*40insCCCCCCGCCCCC) c.3554_3555insCCCCCCGCCCCC (p.Pro1185_Pro1186insProProProPro) c.3524_3525insCCCCCCGCCCCC (p.Pro1175_Pro1176insProProProPro) c.3650_3651insCCCCCCGCCCCC (p.Pro1217_Pro1218insProProProPro) c.2939_2940insCCCCCCGCCCCC (p.Pro980_Pro981insProProProPro) c.3597+651_3597+652insCCCCCCGCCCCC (n.3597+651_3597+652insCCCCCCGCCCCC) c.3547+1190_3547+1191insCCCCCCGCCCCC (n.3547+1190_3547+1191insCCCCCCGCCCCC) c.2876_2877insCCCCCCGCCCCC (p.Pro959_Pro960insProProProPro) c.2843_2844insCCCCCCGCCCCC (p.Pro948_Pro949insProProProPro) c.3056_3057insCCCCCCGCCCCC (p.Pro1019_Pro1020insProProProPro) | gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235139_53235140insGGGGGGGGGGGGCGG | CA1133160175 | IQSEC2 | c.3713_3714insCCCCCCCCCGCCCCC (p.Pro1238_Pro1239insProProProProPro) c.1453+651_1453+652insCCCCCCCCCGCCCCC c.962+651_962+652insCCCCCCCCCGCCCCC c.316+1190_316+1191insCCCCCCCCCGCCCCC (n.316+1190_316+1191insCCCCCCCCCGCCCCC) c.514+1190_514+1191insCCCCCCCCCGCCCCC (n.514+1190_514+1191insCCCCCCCCCGCCCCC) n.534_535insCCCCCCCCCGCCCCC c.*39_*40insCCCCCCCCCGCCCCC (n.*39_*40insCCCCCCCCCGCCCCC) c.3554_3555insCCCCCCCCCGCCCCC (p.Pro1185_Pro1186insProProProProPro) c.3524_3525insCCCCCCCCCGCCCCC (p.Pro1175_Pro1176insProProProProPro) c.3650_3651insCCCCCCCCCGCCCCC (p.Pro1217_Pro1218insProProProProPro) c.2939_2940insCCCCCCCCCGCCCCC (p.Pro980_Pro981insProProProProPro) c.3597+651_3597+652insCCCCCCCCCGCCCCC (n.3597+651_3597+652insCCCCCCCCCGCCCCC) c.3547+1190_3547+1191insCCCCCCCCCGCCCCC (n.3547+1190_3547+1191insCCCCCCCCCGCCCCC) c.2876_2877insCCCCCCCCCGCCCCC (p.Pro959_Pro960insProProProProPro) c.2843_2844insCCCCCCCCCGCCCCC (p.Pro948_Pro949insProProProProPro) c.3056_3057insCCCCCCCCCGCCCCC (p.Pro1019_Pro1020insProProProProPro) | gnomAD v3 gnomAD v4 |
X | g.53235139_53235140insGGGGGGGGGGGGGGGGCGG | CA2693794587 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCGCCCCC (p.Glu1243AlafsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCGCCCCC c.962+651_962+652insCCCCCCCCCCCCCGCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCGCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCGCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCGCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCGCCCCC) n.534_535insCCCCCCCCCCCCCGCCCCC c.*39_*40insCCCCCCCCCCCCCGCCCCC (n.*39_*40insCCCCCCCCCCCCCGCCCCC) c.3554_3555insCCCCCCCCCCCCCGCCCCC (p.Glu1190AlafsTer?) c.3524_3525insCCCCCCCCCCCCCGCCCCC (p.Glu1180AlafsTer?) c.3650_3651insCCCCCCCCCCCCCGCCCCC (p.Glu1222AlafsTer?) c.2939_2940insCCCCCCCCCCCCCGCCCCC (p.Glu985AlafsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCGCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCGCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCGCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCGCCCCC) c.2876_2877insCCCCCCCCCCCCCGCCCCC (p.Glu964AlafsTer?) c.2843_2844insCCCCCCCCCCCCCGCCCCC (p.Glu953AlafsTer?) c.3056_3057insCCCCCCCCCCCCCGCCCCC (p.Glu1024AlafsTer?) | gnomAD v4 |
X | g.53235139_53235140insGGGGGGGGGGGGGGGGGGGCGG | CA2693794574 | IQSEC2 | c.3713_3714insCCCCCCCCCCCCCCCCGCCCCC (p.Glu1243ProfsTer?) c.1453+651_1453+652insCCCCCCCCCCCCCCCCGCCCCC c.962+651_962+652insCCCCCCCCCCCCCCCCGCCCCC c.316+1190_316+1191insCCCCCCCCCCCCCCCCGCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCCCGCCCCC) c.514+1190_514+1191insCCCCCCCCCCCCCCCCGCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCCCGCCCCC) n.534_535insCCCCCCCCCCCCCCCCGCCCCC c.*39_*40insCCCCCCCCCCCCCCCCGCCCCC (n.*39_*40insCCCCCCCCCCCCCCCCGCCCCC) c.3554_3555insCCCCCCCCCCCCCCCCGCCCCC (p.Glu1190ProfsTer?) c.3524_3525insCCCCCCCCCCCCCCCCGCCCCC (p.Glu1180ProfsTer?) c.3650_3651insCCCCCCCCCCCCCCCCGCCCCC (p.Glu1222ProfsTer?) c.2939_2940insCCCCCCCCCCCCCCCCGCCCCC (p.Glu985ProfsTer?) c.3597+651_3597+652insCCCCCCCCCCCCCCCCGCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCCCGCCCCC) c.3547+1190_3547+1191insCCCCCCCCCCCCCCCCGCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCCCGCCCCC) c.2876_2877insCCCCCCCCCCCCCCCCGCCCCC (p.Glu964ProfsTer?) c.2843_2844insCCCCCCCCCCCCCCCCGCCCCC (p.Glu953ProfsTer?) c.3056_3057insCCCCCCCCCCCCCCCCGCCCCC (p.Glu1024ProfsTer?) | gnomAD v4 |
X | g.53235134_53235139del | CA2693794568 | IQSEC2 | c.3708_3713del (p.Pro1237_Pro1238del) c.1453+646_1453+651del c.962+646_962+651del c.316+1185_316+1190del (n.316+1185_316+1190del) c.514+1185_514+1190del (n.514+1185_514+1190del) n.529_534del c.*34_*39del (n.*34_*39del) c.3549_3554del (p.Pro1184_Pro1185del) c.3519_3524del (p.Pro1174_Pro1175del) c.3645_3650del (p.Pro1216_Pro1217del) c.2934_2939del (p.Pro979_Pro980del) c.3597+646_3597+651del (n.3597+646_3597+651del) c.3547+1185_3547+1190del (n.3547+1185_3547+1190del) c.2871_2876del (p.Pro958_Pro959del) c.2838_2843del (p.Pro947_Pro948del) c.3051_3056del (p.Pro1018_Pro1019del) | gnomAD v4 |
X | g.53235133G>A | CA413142484 | IQSEC2 | c.3712C>T (p.Pro1238Ser) c.1453+650C>T c.962+650C>T c.316+1189C>T (n.316+1189C>T) c.514+1189C>T (n.514+1189C>T) n.533C>T c.*38C>T (n.*38C>T) c.3553C>T (p.Pro1185Ser) c.3523C>T (p.Pro1175Ser) c.3649C>T (p.Pro1217Ser) c.2938C>T (p.Pro980Ser) c.3597+650C>T (n.3597+650C>T) c.3547+1189C>T (n.3547+1189C>T) c.2875C>T (p.Pro959Ser) c.2842C>T (p.Pro948Ser) c.3055C>T (p.Pro1019Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235133G>C | CA413142487 | IQSEC2 | c.3712C>G (p.Pro1238Ala) c.1453+650C>G c.962+650C>G c.316+1189C>G (n.316+1189C>G) c.514+1189C>G (n.514+1189C>G) n.533C>G c.*38C>G (n.*38C>G) c.3553C>G (p.Pro1185Ala) c.3523C>G (p.Pro1175Ala) c.3649C>G (p.Pro1217Ala) c.2938C>G (p.Pro980Ala) c.3597+650C>G (n.3597+650C>G) c.3547+1189C>G (n.3547+1189C>G) c.2875C>G (p.Pro959Ala) c.2842C>G (p.Pro948Ala) c.3055C>G (p.Pro1019Ala) | |
X | g.53235133G= | CA2429770707 | IQSEC2 | c.3712C= (p.Pro1238=) c.1453+650C= c.962+650C= c.316+1189C= (n.316+1189C=) c.514+1189C= (n.514+1189C=) n.533C= c.*38C= (n.*38C=) c.3553C= (p.Pro1185=) c.3523C= (p.Pro1175=) c.3649C= (p.Pro1217=) c.2938C= (p.Pro980=) c.3597+650C= (n.3597+650C=) c.3547+1189C= (n.3547+1189C=) c.2875C= (p.Pro959=) c.2842C= (p.Pro948=) c.3055C= (p.Pro1019=) | |
X | g.53235133G>T | CA413142488 | IQSEC2 | c.3712C>A (p.Pro1238Thr) c.1453+650C>A c.962+650C>A c.316+1189C>A (n.316+1189C>A) c.514+1189C>A (n.514+1189C>A) n.533C>A c.*38C>A (n.*38C>A) c.3553C>A (p.Pro1185Thr) c.3523C>A (p.Pro1175Thr) c.3649C>A (p.Pro1217Thr) c.2938C>A (p.Pro980Thr) c.3597+650C>A (n.3597+650C>A) c.3547+1189C>A (n.3547+1189C>A) c.2875C>A (p.Pro959Thr) c.2842C>A (p.Pro948Thr) c.3055C>A (p.Pro1019Thr) | gnomAD v4 |
X | g.53235134G>A | CA516674049 | IQSEC2 | c.3711C>T (p.Pro1237=) c.1453+649C>T c.962+649C>T c.316+1188C>T (n.316+1188C>T) c.514+1188C>T (n.514+1188C>T) n.532C>T c.*37C>T (n.*37C>T) c.3552C>T (p.Pro1184=) c.3522C>T (p.Pro1174=) c.3648C>T (p.Pro1216=) c.2937C>T (p.Pro979=) c.3597+649C>T (n.3597+649C>T) c.3547+1188C>T (n.3547+1188C>T) c.2874C>T (p.Pro958=) c.2841C>T (p.Pro947=) c.3054C>T (p.Pro1018=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235134G>C | CA516674050 | IQSEC2 | c.3711C>G (p.Pro1237=) c.1453+649C>G c.962+649C>G c.316+1188C>G (n.316+1188C>G) c.514+1188C>G (n.514+1188C>G) n.532C>G c.*37C>G (n.*37C>G) c.3552C>G (p.Pro1184=) c.3522C>G (p.Pro1174=) c.3648C>G (p.Pro1216=) c.2937C>G (p.Pro979=) c.3597+649C>G (n.3597+649C>G) c.3547+1188C>G (n.3547+1188C>G) c.2874C>G (p.Pro958=) c.2841C>G (p.Pro947=) c.3054C>G (p.Pro1018=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53235134G= | CA2429770708 | IQSEC2 | c.3711C= (p.Pro1237=) c.1453+649C= c.962+649C= c.316+1188C= (n.316+1188C=) c.514+1188C= (n.514+1188C=) n.532C= c.*37C= (n.*37C=) c.3552C= (p.Pro1184=) c.3522C= (p.Pro1174=) c.3648C= (p.Pro1216=) c.2937C= (p.Pro979=) c.3597+649C= (n.3597+649C=) c.3547+1188C= (n.3547+1188C=) c.2874C= (p.Pro958=) c.2841C= (p.Pro947=) c.3054C= (p.Pro1018=) | |
X | g.53235134G>T | CA516674051 | IQSEC2 | c.3711C>A (p.Pro1237=) c.1453+649C>A c.962+649C>A c.316+1188C>A (n.316+1188C>A) c.514+1188C>A (n.514+1188C>A) n.532C>A c.*37C>A (n.*37C>A) c.3552C>A (p.Pro1184=) c.3522C>A (p.Pro1174=) c.3648C>A (p.Pro1216=) c.2937C>A (p.Pro979=) c.3597+649C>A (n.3597+649C>A) c.3547+1188C>A (n.3547+1188C>A) c.2874C>A (p.Pro958=) c.2841C>A (p.Pro947=) c.3054C>A (p.Pro1018=) | gnomAD v4 |
X | g.53235135G>A | CA413142489 | IQSEC2 | c.3710C>T (p.Pro1237Leu) c.1453+648C>T c.962+648C>T c.316+1187C>T (n.316+1187C>T) c.514+1187C>T (n.514+1187C>T) n.531C>T c.*36C>T (n.*36C>T) c.3551C>T (p.Pro1184Leu) c.3521C>T (p.Pro1174Leu) c.3647C>T (p.Pro1216Leu) c.2936C>T (p.Pro979Leu) c.3597+648C>T (n.3597+648C>T) c.3547+1187C>T (n.3547+1187C>T) c.2873C>T (p.Pro958Leu) c.2840C>T (p.Pro947Leu) c.3053C>T (p.Pro1018Leu) | gnomAD v4 |
X | g.53235135G>C | CA413142490 | IQSEC2 | c.3710C>G (p.Pro1237Arg) c.1453+648C>G c.962+648C>G c.316+1187C>G (n.316+1187C>G) c.514+1187C>G (n.514+1187C>G) n.531C>G c.*36C>G (n.*36C>G) c.3551C>G (p.Pro1184Arg) c.3521C>G (p.Pro1174Arg) c.3647C>G (p.Pro1216Arg) c.2936C>G (p.Pro979Arg) c.3597+648C>G (n.3597+648C>G) c.3547+1187C>G (n.3547+1187C>G) c.2873C>G (p.Pro958Arg) c.2840C>G (p.Pro947Arg) c.3053C>G (p.Pro1018Arg) | |
X | g.53235135G>T | CA413142492 | IQSEC2 | c.3710C>A (p.Pro1237His) c.1453+648C>A c.962+648C>A c.316+1187C>A (n.316+1187C>A) c.514+1187C>A (n.514+1187C>A) n.531C>A c.*36C>A (n.*36C>A) c.3551C>A (p.Pro1184His) c.3521C>A (p.Pro1174His) c.3647C>A (p.Pro1216His) c.2936C>A (p.Pro979His) c.3597+648C>A (n.3597+648C>A) c.3547+1187C>A (n.3547+1187C>A) c.2873C>A (p.Pro958His) c.2840C>A (p.Pro947His) c.3053C>A (p.Pro1018His) | gnomAD v4 |
X | g.53235135_53235146del | CA2693794609 | IQSEC2 | c.3699_3710del (p.Met1233_Pro1237delinsIle) c.1453+637_1453+648del c.962+637_962+648del c.316+1176_316+1187del (n.316+1176_316+1187del) c.514+1176_514+1187del (n.514+1176_514+1187del) n.520_531del c.*25_*36del (n.*25_*36del) c.3540_3551del (p.Met1180_Pro1184delinsIle) c.3510_3521del (p.Met1170_Pro1174delinsIle) c.3636_3647del (p.Met1212_Pro1216delinsIle) c.2925_2936del (p.Met975_Pro979delinsIle) c.3597+637_3597+648del (n.3597+637_3597+648del) c.3547+1176_3547+1187del (n.3547+1176_3547+1187del) c.2862_2873del (p.Met954_Pro958delinsIle) c.2829_2840del (p.Met943_Pro947delinsIle) c.3042_3053del (p.Met1014_Pro1018delinsIle) | gnomAD v4 |
X | g.53235138_53235146del | CA2693794608 | IQSEC2 | c.3702_3710del (p.Pro1235_Pro1237del) c.1453+640_1453+648del c.962+640_962+648del c.316+1179_316+1187del (n.316+1179_316+1187del) c.514+1179_514+1187del (n.514+1179_514+1187del) n.523_531del c.*28_*36del (n.*28_*36del) c.3543_3551del (p.Pro1182_Pro1184del) c.3513_3521del (p.Pro1172_Pro1174del) c.3639_3647del (p.Pro1214_Pro1216del) c.2928_2936del (p.Pro977_Pro979del) c.3597+640_3597+648del (n.3597+640_3597+648del) c.3547+1179_3547+1187del (n.3547+1179_3547+1187del) c.2865_2873del (p.Pro956_Pro958del) c.2832_2840del (p.Pro945_Pro947del) c.3045_3053del (p.Pro1016_Pro1018del) | gnomAD v4 |
X | g.53235136G>A | CA413142494 | IQSEC2 | c.3709C>T (p.Pro1237Ser) c.1453+647C>T c.962+647C>T c.316+1186C>T (n.316+1186C>T) c.514+1186C>T (n.514+1186C>T) n.530C>T c.*35C>T (n.*35C>T) c.3550C>T (p.Pro1184Ser) c.3520C>T (p.Pro1174Ser) c.3646C>T (p.Pro1216Ser) c.2935C>T (p.Pro979Ser) c.3597+647C>T (n.3597+647C>T) c.3547+1186C>T (n.3547+1186C>T) c.2872C>T (p.Pro958Ser) c.2839C>T (p.Pro947Ser) c.3052C>T (p.Pro1018Ser) | gnomAD v4 |
X | g.53235136G>C | CA413142495 | IQSEC2 | c.3709C>G (p.Pro1237Ala) c.1453+647C>G c.962+647C>G c.316+1186C>G (n.316+1186C>G) c.514+1186C>G (n.514+1186C>G) n.530C>G c.*35C>G (n.*35C>G) c.3550C>G (p.Pro1184Ala) c.3520C>G (p.Pro1174Ala) c.3646C>G (p.Pro1216Ala) c.2935C>G (p.Pro979Ala) c.3597+647C>G (n.3597+647C>G) c.3547+1186C>G (n.3547+1186C>G) c.2872C>G (p.Pro958Ala) c.2839C>G (p.Pro947Ala) c.3052C>G (p.Pro1018Ala) | gnomAD v4 |
X | g.53235136G>T | CA413142497 | IQSEC2 | c.3709C>A (p.Pro1237Thr) c.1453+647C>A c.962+647C>A c.316+1186C>A (n.316+1186C>A) c.514+1186C>A (n.514+1186C>A) n.530C>A c.*35C>A (n.*35C>A) c.3550C>A (p.Pro1184Thr) c.3520C>A (p.Pro1174Thr) c.3646C>A (p.Pro1216Thr) c.2935C>A (p.Pro979Thr) c.3597+647C>A (n.3597+647C>A) c.3547+1186C>A (n.3547+1186C>A) c.2872C>A (p.Pro958Thr) c.2839C>A (p.Pro947Thr) c.3052C>A (p.Pro1018Thr) | gnomAD v4 |
X | g.53235136_53235137insGC | CA2693794618 | IQSEC2 | c.3708_3709insGC (p.Pro1237AlafsTer?) c.1453+646_1453+647insGC c.962+646_962+647insGC c.316+1185_316+1186insGC (n.316+1185_316+1186insGC) c.514+1185_514+1186insGC (n.514+1185_514+1186insGC) n.529_530insGC c.*34_*35insGC (n.*34_*35insGC) c.3549_3550insGC (p.Pro1184AlafsTer?) c.3519_3520insGC (p.Pro1174AlafsTer?) c.3645_3646insGC (p.Pro1216AlafsTer?) c.2934_2935insGC (p.Pro979AlafsTer?) c.3597+646_3597+647insGC (n.3597+646_3597+647insGC) c.3547+1185_3547+1186insGC (n.3547+1185_3547+1186insGC) c.2871_2872insGC (p.Pro958AlafsTer?) c.2838_2839insGC (p.Pro947AlafsTer?) c.3051_3052insGC (p.Pro1018AlafsTer?) | gnomAD v4 |
X | g.53235136_53235137insGGC | CA2693794620 | IQSEC2 | c.3708_3709insGCC (p.Pro1236_Pro1237insAla) c.1453+646_1453+647insGCC c.962+646_962+647insGCC c.316+1185_316+1186insGCC (n.316+1185_316+1186insGCC) c.514+1185_514+1186insGCC (n.514+1185_514+1186insGCC) n.529_530insGCC c.*34_*35insGCC (n.*34_*35insGCC) c.3549_3550insGCC (p.Pro1183_Pro1184insAla) c.3519_3520insGCC (p.Pro1173_Pro1174insAla) c.3645_3646insGCC (p.Pro1215_Pro1216insAla) c.2934_2935insGCC (p.Pro978_Pro979insAla) c.3597+646_3597+647insGCC (n.3597+646_3597+647insGCC) c.3547+1185_3547+1186insGCC (n.3547+1185_3547+1186insGCC) c.2871_2872insGCC (p.Pro957_Pro958insAla) c.2838_2839insGCC (p.Pro946_Pro947insAla) c.3051_3052insGCC (p.Pro1017_Pro1018insAla) | gnomAD v4 |
X | g.53235136_53235137insGGGGGGGGGGGGGC | CA2820950283 | IQSEC2 | c.3708_3709insGCCCCCCCCCCCCC (p.Pro1237AlafsTer?) c.1453+646_1453+647insGCCCCCCCCCCCCC c.962+646_962+647insGCCCCCCCCCCCCC c.316+1185_316+1186insGCCCCCCCCCCCCC (n.316+1185_316+1186insGCCCCCCCCCCCCC) c.514+1185_514+1186insGCCCCCCCCCCCCC (n.514+1185_514+1186insGCCCCCCCCCCCCC) n.529_530insGCCCCCCCCCCCCC c.*34_*35insGCCCCCCCCCCCCC (n.*34_*35insGCCCCCCCCCCCCC) c.3549_3550insGCCCCCCCCCCCCC (p.Pro1184AlafsTer?) c.3519_3520insGCCCCCCCCCCCCC (p.Pro1174AlafsTer?) c.3645_3646insGCCCCCCCCCCCCC (p.Pro1216AlafsTer?) c.2934_2935insGCCCCCCCCCCCCC (p.Pro979AlafsTer?) c.3597+646_3597+647insGCCCCCCCCCCCCC (n.3597+646_3597+647insGCCCCCCCCCCCCC) c.3547+1185_3547+1186insGCCCCCCCCCCCCC (n.3547+1185_3547+1186insGCCCCCCCCCCCCC) c.2871_2872insGCCCCCCCCCCCCC (p.Pro958AlafsTer?) c.2838_2839insGCCCCCCCCCCCCC (p.Pro947AlafsTer?) c.3051_3052insGCCCCCCCCCCCCC (p.Pro1018AlafsTer?) | |
X | g.53235136_53235137insGGGGGGGGGGGGGGC | CA2693794621 | IQSEC2 | c.3708_3709insGCCCCCCCCCCCCCC (p.Pro1236_Pro1237insAlaProProProPro) c.1453+646_1453+647insGCCCCCCCCCCCCCC c.962+646_962+647insGCCCCCCCCCCCCCC c.316+1185_316+1186insGCCCCCCCCCCCCCC (n.316+1185_316+1186insGCCCCCCCCCCCCCC) c.514+1185_514+1186insGCCCCCCCCCCCCCC (n.514+1185_514+1186insGCCCCCCCCCCCCCC) n.529_530insGCCCCCCCCCCCCCC c.*34_*35insGCCCCCCCCCCCCCC (n.*34_*35insGCCCCCCCCCCCCCC) c.3549_3550insGCCCCCCCCCCCCCC (p.Pro1183_Pro1184insAlaProProProPro) c.3519_3520insGCCCCCCCCCCCCCC (p.Pro1173_Pro1174insAlaProProProPro) c.3645_3646insGCCCCCCCCCCCCCC (p.Pro1215_Pro1216insAlaProProProPro) c.2934_2935insGCCCCCCCCCCCCCC (p.Pro978_Pro979insAlaProProProPro) c.3597+646_3597+647insGCCCCCCCCCCCCCC (n.3597+646_3597+647insGCCCCCCCCCCCCCC) c.3547+1185_3547+1186insGCCCCCCCCCCCCCC (n.3547+1185_3547+1186insGCCCCCCCCCCCCCC) c.2871_2872insGCCCCCCCCCCCCCC (p.Pro957_Pro958insAlaProProProPro) c.2838_2839insGCCCCCCCCCCCCCC (p.Pro946_Pro947insAlaProProProPro) c.3051_3052insGCCCCCCCCCCCCCC (p.Pro1017_Pro1018insAlaProProProPro) | gnomAD v4 |
X | g.53235137C>A | CA516674054 | IQSEC2 | c.3708G>T (p.Pro1236=) c.1453+646G>T c.962+646G>T c.316+1185G>T (n.316+1185G>T) c.514+1185G>T (n.514+1185G>T) n.529G>T c.*34G>T (n.*34G>T) c.3549G>T (p.Pro1183=) c.3519G>T (p.Pro1173=) c.3645G>T (p.Pro1215=) c.2934G>T (p.Pro978=) c.3597+646G>T (n.3597+646G>T) c.3547+1185G>T (n.3547+1185G>T) c.2871G>T (p.Pro957=) c.2838G>T (p.Pro946=) c.3051G>T (p.Pro1017=) | |
X | g.53235137C= | CA2429770709 | IQSEC2 | c.3708G= (p.Pro1236=) c.1453+646G= c.962+646G= c.316+1185G= (n.316+1185G=) c.514+1185G= (n.514+1185G=) n.529G= c.*34G= (n.*34G=) c.3549G= (p.Pro1183=) c.3519G= (p.Pro1173=) c.3645G= (p.Pro1215=) c.2934G= (p.Pro978=) c.3597+646G= (n.3597+646G=) c.3547+1185G= (n.3547+1185G=) c.2871G= (p.Pro957=) c.2838G= (p.Pro946=) c.3051G= (p.Pro1017=) | |
X | g.53235137C>G | CA516674055 | IQSEC2 | c.3708G>C (p.Pro1236=) c.1453+646G>C c.962+646G>C c.316+1185G>C (n.316+1185G>C) c.514+1185G>C (n.514+1185G>C) n.529G>C c.*34G>C (n.*34G>C) c.3549G>C (p.Pro1183=) c.3519G>C (p.Pro1173=) c.3645G>C (p.Pro1215=) c.2934G>C (p.Pro978=) c.3597+646G>C (n.3597+646G>C) c.3547+1185G>C (n.3547+1185G>C) c.2871G>C (p.Pro957=) c.2838G>C (p.Pro946=) c.3051G>C (p.Pro1017=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235137C>T | CA329162221 | IQSEC2 | c.3708G>A (p.Pro1236=) c.1453+646G>A c.962+646G>A c.316+1185G>A (n.316+1185G>A) c.514+1185G>A (n.514+1185G>A) n.529G>A c.*34G>A (n.*34G>A) c.3549G>A (p.Pro1183=) c.3519G>A (p.Pro1173=) c.3645G>A (p.Pro1215=) c.2934G>A (p.Pro978=) c.3597+646G>A (n.3597+646G>A) c.3547+1185G>A (n.3547+1185G>A) c.2871G>A (p.Pro957=) c.2838G>A (p.Pro946=) c.3051G>A (p.Pro1017=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53235137dup | CA2693794623 | IQSEC2 | c.3708dup (p.Pro1237AlafsTer?) c.1453+646dup c.962+646dup c.316+1185dup (n.316+1185dup) c.514+1185dup (n.514+1185dup) n.529dup c.*34dup (n.*34dup) c.3549dup (p.Pro1184AlafsTer?) c.3519dup (p.Pro1174AlafsTer?) c.3645dup (p.Pro1216AlafsTer?) c.2934dup (p.Pro979AlafsTer?) c.3597+646dup (n.3597+646dup) c.3547+1185dup (n.3547+1185dup) c.2871dup (p.Pro958AlafsTer?) c.2838dup (p.Pro947AlafsTer?) c.3051dup (p.Pro1018AlafsTer?) | gnomAD v4 |
X | g.53235138G>A | CA413142507 | IQSEC2 | c.3707C>T (p.Pro1236Leu) c.1453+645C>T c.962+645C>T c.316+1184C>T (n.316+1184C>T) c.514+1184C>T (n.514+1184C>T) n.528C>T c.*33C>T (n.*33C>T) c.3548C>T (p.Pro1183Leu) c.3518C>T (p.Pro1173Leu) c.3644C>T (p.Pro1215Leu) c.2933C>T (p.Pro978Leu) c.3597+645C>T (n.3597+645C>T) c.3547+1184C>T (n.3547+1184C>T) c.2870C>T (p.Pro957Leu) c.2837C>T (p.Pro946Leu) c.3050C>T (p.Pro1017Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235138G>C | CA413142516 | IQSEC2 | c.3707C>G (p.Pro1236Arg) c.1453+645C>G c.962+645C>G c.316+1184C>G (n.316+1184C>G) c.514+1184C>G (n.514+1184C>G) n.528C>G c.*33C>G (n.*33C>G) c.3548C>G (p.Pro1183Arg) c.3518C>G (p.Pro1173Arg) c.3644C>G (p.Pro1215Arg) c.2933C>G (p.Pro978Arg) c.3597+645C>G (n.3597+645C>G) c.3547+1184C>G (n.3547+1184C>G) c.2870C>G (p.Pro957Arg) c.2837C>G (p.Pro946Arg) c.3050C>G (p.Pro1017Arg) | gnomAD v4 |
X | g.53235138G= | CA2429770710 | IQSEC2 | c.3707C= (p.Pro1236=) c.1453+645C= c.962+645C= c.316+1184C= (n.316+1184C=) c.514+1184C= (n.514+1184C=) n.528C= c.*33C= (n.*33C=) c.3548C= (p.Pro1183=) c.3518C= (p.Pro1173=) c.3644C= (p.Pro1215=) c.2933C= (p.Pro978=) c.3597+645C= (n.3597+645C=) c.3547+1184C= (n.3547+1184C=) c.2870C= (p.Pro957=) c.2837C= (p.Pro946=) c.3050C= (p.Pro1017=) | |
X | g.53235138G>T | CA413142511 | IQSEC2 | c.3707C>A (p.Pro1236Gln) c.1453+645C>A c.962+645C>A c.316+1184C>A (n.316+1184C>A) c.514+1184C>A (n.514+1184C>A) n.528C>A c.*33C>A (n.*33C>A) c.3548C>A (p.Pro1183Gln) c.3518C>A (p.Pro1173Gln) c.3644C>A (p.Pro1215Gln) c.2933C>A (p.Pro978Gln) c.3597+645C>A (n.3597+645C>A) c.3547+1184C>A (n.3547+1184C>A) c.2870C>A (p.Pro957Gln) c.2837C>A (p.Pro946Gln) c.3050C>A (p.Pro1017Gln) | gnomAD v4 |
X | g.53235139G>A | CA413142519 | IQSEC2 | c.3706C>T (p.Pro1236Ser) c.1453+644C>T c.962+644C>T c.316+1183C>T (n.316+1183C>T) c.514+1183C>T (n.514+1183C>T) n.527C>T c.*32C>T (n.*32C>T) c.3547C>T (p.Pro1183Ser) c.3517C>T (p.Pro1173Ser) c.3643C>T (p.Pro1215Ser) c.2932C>T (p.Pro978Ser) c.3597+644C>T (n.3597+644C>T) c.3547+1183C>T (n.3547+1183C>T) c.2869C>T (p.Pro957Ser) c.2836C>T (p.Pro946Ser) c.3049C>T (p.Pro1017Ser) | |
X | g.53235139G>C | CA413142522 | IQSEC2 | c.3706C>G (p.Pro1236Ala) c.1453+644C>G c.962+644C>G c.316+1183C>G (n.316+1183C>G) c.514+1183C>G (n.514+1183C>G) n.527C>G c.*32C>G (n.*32C>G) c.3547C>G (p.Pro1183Ala) c.3517C>G (p.Pro1173Ala) c.3643C>G (p.Pro1215Ala) c.2932C>G (p.Pro978Ala) c.3597+644C>G (n.3597+644C>G) c.3547+1183C>G (n.3547+1183C>G) c.2869C>G (p.Pro957Ala) c.2836C>G (p.Pro946Ala) c.3049C>G (p.Pro1017Ala) | gnomAD v4 |
X | g.53235139G>T | CA413142524 | IQSEC2 | c.3706C>A (p.Pro1236Thr) c.1453+644C>A c.962+644C>A c.316+1183C>A (n.316+1183C>A) c.514+1183C>A (n.514+1183C>A) n.527C>A c.*32C>A (n.*32C>A) c.3547C>A (p.Pro1183Thr) c.3517C>A (p.Pro1173Thr) c.3643C>A (p.Pro1215Thr) c.2932C>A (p.Pro978Thr) c.3597+644C>A (n.3597+644C>A) c.3547+1183C>A (n.3547+1183C>A) c.2869C>A (p.Pro957Thr) c.2836C>A (p.Pro946Thr) c.3049C>A (p.Pro1017Thr) | gnomAD v4 |
X | g.53235140A= | CA2429770711 | IQSEC2 | c.3705T= (p.Pro1235=) c.1453+643T= c.962+643T= c.316+1182T= (n.316+1182T=) c.514+1182T= (n.514+1182T=) n.526T= c.*31T= (n.*31T=) c.3546T= (p.Pro1182=) c.3516T= (p.Pro1172=) c.3642T= (p.Pro1214=) c.2931T= (p.Pro977=) c.3597+643T= (n.3597+643T=) c.3547+1182T= (n.3547+1182T=) c.2868T= (p.Pro956=) c.2835T= (p.Pro945=) c.3048T= (p.Pro1016=) | |
X | g.53235140A>C | CA516674059 | IQSEC2 | c.3705T>G (p.Pro1235=) c.1453+643T>G c.962+643T>G c.316+1182T>G (n.316+1182T>G) c.514+1182T>G (n.514+1182T>G) n.526T>G c.*31T>G (n.*31T>G) c.3546T>G (p.Pro1182=) c.3516T>G (p.Pro1172=) c.3642T>G (p.Pro1214=) c.2931T>G (p.Pro977=) c.3597+643T>G (n.3597+643T>G) c.3547+1182T>G (n.3547+1182T>G) c.2868T>G (p.Pro956=) c.2835T>G (p.Pro945=) c.3048T>G (p.Pro1016=) | ClinVar dbSNP gnomAD v4 |
X | g.53235140A>G | CA516674061 | IQSEC2 | c.3705T>C (p.Pro1235=) c.1453+643T>C c.962+643T>C c.316+1182T>C (n.316+1182T>C) c.514+1182T>C (n.514+1182T>C) n.526T>C c.*31T>C (n.*31T>C) c.3546T>C (p.Pro1182=) c.3516T>C (p.Pro1172=) c.3642T>C (p.Pro1214=) c.2931T>C (p.Pro977=) c.3597+643T>C (n.3597+643T>C) c.3547+1182T>C (n.3547+1182T>C) c.2868T>C (p.Pro956=) c.2835T>C (p.Pro945=) c.3048T>C (p.Pro1016=) | gnomAD v3 gnomAD v4 |
X | g.53235140A>T | CA516674063 | IQSEC2 | c.3705T>A (p.Pro1235=) c.1453+643T>A c.962+643T>A c.316+1182T>A (n.316+1182T>A) c.514+1182T>A (n.514+1182T>A) n.526T>A c.*31T>A (n.*31T>A) c.3546T>A (p.Pro1182=) c.3516T>A (p.Pro1172=) c.3642T>A (p.Pro1214=) c.2931T>A (p.Pro977=) c.3597+643T>A (n.3597+643T>A) c.3547+1182T>A (n.3547+1182T>A) c.2868T>A (p.Pro956=) c.2835T>A (p.Pro945=) c.3048T>A (p.Pro1016=) | gnomAD v4 |
X | g.53235141G>A | CA413142530 | IQSEC2 | c.3704C>T (p.Pro1235Leu) c.1453+642C>T c.962+642C>T c.316+1181C>T (n.316+1181C>T) c.514+1181C>T (n.514+1181C>T) n.525C>T c.*30C>T (n.*30C>T) c.3545C>T (p.Pro1182Leu) c.3515C>T (p.Pro1172Leu) c.3641C>T (p.Pro1214Leu) c.2930C>T (p.Pro977Leu) c.3597+642C>T (n.3597+642C>T) c.3547+1181C>T (n.3547+1181C>T) c.2867C>T (p.Pro956Leu) c.2834C>T (p.Pro945Leu) c.3047C>T (p.Pro1016Leu) | |
X | g.53235141G>C | CA413142534 | IQSEC2 | c.3704C>G (p.Pro1235Arg) c.1453+642C>G c.962+642C>G c.316+1181C>G (n.316+1181C>G) c.514+1181C>G (n.514+1181C>G) n.525C>G c.*30C>G (n.*30C>G) c.3545C>G (p.Pro1182Arg) c.3515C>G (p.Pro1172Arg) c.3641C>G (p.Pro1214Arg) c.2930C>G (p.Pro977Arg) c.3597+642C>G (n.3597+642C>G) c.3547+1181C>G (n.3547+1181C>G) c.2867C>G (p.Pro956Arg) c.2834C>G (p.Pro945Arg) c.3047C>G (p.Pro1016Arg) | |
X | g.53235141G>T | CA413142538 | IQSEC2 | c.3704C>A (p.Pro1235His) c.1453+642C>A c.962+642C>A c.316+1181C>A (n.316+1181C>A) c.514+1181C>A (n.514+1181C>A) n.525C>A c.*30C>A (n.*30C>A) c.3545C>A (p.Pro1182His) c.3515C>A (p.Pro1172His) c.3641C>A (p.Pro1214His) c.2930C>A (p.Pro977His) c.3597+642C>A (n.3597+642C>A) c.3547+1181C>A (n.3547+1181C>A) c.2867C>A (p.Pro956His) c.2834C>A (p.Pro945His) c.3047C>A (p.Pro1016His) | gnomAD v4 |
X | g.53235142G>A | CA413142546 | IQSEC2 | c.3703C>T (p.Pro1235Ser) c.1453+641C>T c.962+641C>T c.316+1180C>T (n.316+1180C>T) c.514+1180C>T (n.514+1180C>T) n.524C>T c.*29C>T (n.*29C>T) c.3544C>T (p.Pro1182Ser) c.3514C>T (p.Pro1172Ser) c.3640C>T (p.Pro1214Ser) c.2929C>T (p.Pro977Ser) c.3597+641C>T (n.3597+641C>T) c.3547+1180C>T (n.3547+1180C>T) c.2866C>T (p.Pro956Ser) c.2833C>T (p.Pro945Ser) c.3046C>T (p.Pro1016Ser) | |
X | g.53235142G>C | CA413142548 | IQSEC2 | c.3703C>G (p.Pro1235Ala) c.1453+641C>G c.962+641C>G c.316+1180C>G (n.316+1180C>G) c.514+1180C>G (n.514+1180C>G) n.524C>G c.*29C>G (n.*29C>G) c.3544C>G (p.Pro1182Ala) c.3514C>G (p.Pro1172Ala) c.3640C>G (p.Pro1214Ala) c.2929C>G (p.Pro977Ala) c.3597+641C>G (n.3597+641C>G) c.3547+1180C>G (n.3547+1180C>G) c.2866C>G (p.Pro956Ala) c.2833C>G (p.Pro945Ala) c.3046C>G (p.Pro1016Ala) | |
X | g.53235142G>T | CA413142550 | IQSEC2 | c.3703C>A (p.Pro1235Thr) c.1453+641C>A c.962+641C>A c.316+1180C>A (n.316+1180C>A) c.514+1180C>A (n.514+1180C>A) n.524C>A c.*29C>A (n.*29C>A) c.3544C>A (p.Pro1182Thr) c.3514C>A (p.Pro1172Thr) c.3640C>A (p.Pro1214Thr) c.2929C>A (p.Pro977Thr) c.3597+641C>A (n.3597+641C>A) c.3547+1180C>A (n.3547+1180C>A) c.2866C>A (p.Pro956Thr) c.2833C>A (p.Pro945Thr) c.3046C>A (p.Pro1016Thr) | gnomAD v4 |
X | g.53235143T>A | CA516674065 | IQSEC2 | c.3702A>T (p.Pro1234=) c.1453+640A>T c.962+640A>T c.316+1179A>T (n.316+1179A>T) c.514+1179A>T (n.514+1179A>T) n.523A>T c.*28A>T (n.*28A>T) c.3543A>T (p.Pro1181=) c.3513A>T (p.Pro1171=) c.3639A>T (p.Pro1213=) c.2928A>T (p.Pro976=) c.3597+640A>T (n.3597+640A>T) c.3547+1179A>T (n.3547+1179A>T) c.2865A>T (p.Pro955=) c.2832A>T (p.Pro944=) c.3045A>T (p.Pro1015=) | gnomAD v4 |
X | g.53235143T>C | CA516674067 | IQSEC2 | c.3702A>G (p.Pro1234=) c.1453+640A>G c.962+640A>G c.316+1179A>G (n.316+1179A>G) c.514+1179A>G (n.514+1179A>G) n.523A>G c.*28A>G (n.*28A>G) c.3543A>G (p.Pro1181=) c.3513A>G (p.Pro1171=) c.3639A>G (p.Pro1213=) c.2928A>G (p.Pro976=) c.3597+640A>G (n.3597+640A>G) c.3547+1179A>G (n.3547+1179A>G) c.2865A>G (p.Pro955=) c.2832A>G (p.Pro944=) c.3045A>G (p.Pro1015=) | gnomAD v4 |
X | g.53235143T>G | CA516674068 | IQSEC2 | c.3702A>C (p.Pro1234=) c.1453+640A>C c.962+640A>C c.316+1179A>C (n.316+1179A>C) c.514+1179A>C (n.514+1179A>C) n.523A>C c.*28A>C (n.*28A>C) c.3543A>C (p.Pro1181=) c.3513A>C (p.Pro1171=) c.3639A>C (p.Pro1213=) c.2928A>C (p.Pro976=) c.3597+640A>C (n.3597+640A>C) c.3547+1179A>C (n.3547+1179A>C) c.2865A>C (p.Pro955=) c.2832A>C (p.Pro944=) c.3045A>C (p.Pro1015=) | ClinVar gnomAD v3 gnomAD v4 |
X | g.53235144G>A | CA413142577 | IQSEC2 | c.3701C>T (p.Pro1234Leu) c.1453+639C>T c.962+639C>T c.316+1178C>T (n.316+1178C>T) c.514+1178C>T (n.514+1178C>T) n.522C>T c.*27C>T (n.*27C>T) c.3542C>T (p.Pro1181Leu) c.3512C>T (p.Pro1171Leu) c.3638C>T (p.Pro1213Leu) c.2927C>T (p.Pro976Leu) c.3597+639C>T (n.3597+639C>T) c.3547+1178C>T (n.3547+1178C>T) c.2864C>T (p.Pro955Leu) c.2831C>T (p.Pro944Leu) c.3044C>T (p.Pro1015Leu) | gnomAD v4 |
X | g.53235144G>C | CA413142573 | IQSEC2 | c.3701C>G (p.Pro1234Arg) c.1453+639C>G c.962+639C>G c.316+1178C>G (n.316+1178C>G) c.514+1178C>G (n.514+1178C>G) n.522C>G c.*27C>G (n.*27C>G) c.3542C>G (p.Pro1181Arg) c.3512C>G (p.Pro1171Arg) c.3638C>G (p.Pro1213Arg) c.2927C>G (p.Pro976Arg) c.3597+639C>G (n.3597+639C>G) c.3547+1178C>G (n.3547+1178C>G) c.2864C>G (p.Pro955Arg) c.2831C>G (p.Pro944Arg) c.3044C>G (p.Pro1015Arg) | |
X | g.53235144G>T | CA413142570 | IQSEC2 | c.3701C>A (p.Pro1234Gln) c.1453+639C>A c.962+639C>A c.316+1178C>A (n.316+1178C>A) c.514+1178C>A (n.514+1178C>A) n.522C>A c.*27C>A (n.*27C>A) c.3542C>A (p.Pro1181Gln) c.3512C>A (p.Pro1171Gln) c.3638C>A (p.Pro1213Gln) c.2927C>A (p.Pro976Gln) c.3597+639C>A (n.3597+639C>A) c.3547+1178C>A (n.3547+1178C>A) c.2864C>A (p.Pro955Gln) c.2831C>A (p.Pro944Gln) c.3044C>A (p.Pro1015Gln) | gnomAD v4 |
X | g.53235145_53235146insGGG | CA2693794636 | IQSEC2 | c.3701_3702insCCC (p.Pro1234_Pro1235insPro) c.1453+639_1453+640insCCC c.962+639_962+640insCCC c.316+1178_316+1179insCCC (n.316+1178_316+1179insCCC) c.514+1178_514+1179insCCC (n.514+1178_514+1179insCCC) n.522_523insCCC c.*27_*28insCCC (n.*27_*28insCCC) c.3542_3543insCCC (p.Pro1181_Pro1182insPro) c.3512_3513insCCC (p.Pro1171_Pro1172insPro) c.3638_3639insCCC (p.Pro1213_Pro1214insPro) c.2927_2928insCCC (p.Pro976_Pro977insPro) c.3597+639_3597+640insCCC (n.3597+639_3597+640insCCC) c.3547+1178_3547+1179insCCC (n.3547+1178_3547+1179insCCC) c.2864_2865insCCC (p.Pro955_Pro956insPro) c.2831_2832insCCC (p.Pro944_Pro945insPro) c.3044_3045insCCC (p.Pro1015_Pro1016insPro) | gnomAD v4 |
X | g.53235145G>A | CA10419783 | IQSEC2 | c.3700C>T (p.Pro1234Ser) c.1453+638C>T c.962+638C>T c.316+1177C>T (n.316+1177C>T) c.514+1177C>T (n.514+1177C>T) n.521C>T c.*26C>T (n.*26C>T) c.3541C>T (p.Pro1181Ser) c.3511C>T (p.Pro1171Ser) c.3637C>T (p.Pro1213Ser) c.2926C>T (p.Pro976Ser) c.3597+638C>T (n.3597+638C>T) c.3547+1177C>T (n.3547+1177C>T) c.2863C>T (p.Pro955Ser) c.2830C>T (p.Pro944Ser) c.3043C>T (p.Pro1015Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235145G>C | CA413142586 | IQSEC2 | c.3700C>G (p.Pro1234Ala) c.1453+638C>G c.962+638C>G c.316+1177C>G (n.316+1177C>G) c.514+1177C>G (n.514+1177C>G) n.521C>G c.*26C>G (n.*26C>G) c.3541C>G (p.Pro1181Ala) c.3511C>G (p.Pro1171Ala) c.3637C>G (p.Pro1213Ala) c.2926C>G (p.Pro976Ala) c.3597+638C>G (n.3597+638C>G) c.3547+1177C>G (n.3547+1177C>G) c.2863C>G (p.Pro955Ala) c.2830C>G (p.Pro944Ala) c.3043C>G (p.Pro1015Ala) | gnomAD v4 |
X | g.53235145G= | CA2429770712 | IQSEC2 | c.3700C= (p.Pro1234=) c.1453+638C= c.962+638C= c.316+1177C= (n.316+1177C=) c.514+1177C= (n.514+1177C=) n.521C= c.*26C= (n.*26C=) c.3541C= (p.Pro1181=) c.3511C= (p.Pro1171=) c.3637C= (p.Pro1213=) c.2926C= (p.Pro976=) c.3597+638C= (n.3597+638C=) c.3547+1177C= (n.3547+1177C=) c.2863C= (p.Pro955=) c.2830C= (p.Pro944=) c.3043C= (p.Pro1015=) | |
X | g.53235145G>T | CA413142591 | IQSEC2 | c.3700C>A (p.Pro1234Thr) c.1453+638C>A c.962+638C>A c.316+1177C>A (n.316+1177C>A) c.514+1177C>A (n.514+1177C>A) n.521C>A c.*26C>A (n.*26C>A) c.3541C>A (p.Pro1181Thr) c.3511C>A (p.Pro1171Thr) c.3637C>A (p.Pro1213Thr) c.2926C>A (p.Pro976Thr) c.3597+638C>A (n.3597+638C>A) c.3547+1177C>A (n.3547+1177C>A) c.2863C>A (p.Pro955Thr) c.2830C>A (p.Pro944Thr) c.3043C>A (p.Pro1015Thr) | gnomAD v4 |
X | g.53235146C>A | CA413142596 | IQSEC2 | c.3699G>T (p.Met1233Ile) c.1453+637G>T c.962+637G>T c.316+1176G>T (n.316+1176G>T) c.514+1176G>T (n.514+1176G>T) n.520G>T c.*25G>T (n.*25G>T) c.3540G>T (p.Met1180Ile) c.3510G>T (p.Met1170Ile) c.3636G>T (p.Met1212Ile) c.2925G>T (p.Met975Ile) c.3597+637G>T (n.3597+637G>T) c.3547+1176G>T (n.3547+1176G>T) c.2862G>T (p.Met954Ile) c.2829G>T (p.Met943Ile) c.3042G>T (p.Met1014Ile) | dbSNP |
X | g.53235146C= | CA2429770713 | IQSEC2 | c.3699G= (p.Met1233=) c.1453+637G= c.962+637G= c.316+1176G= (n.316+1176G=) c.514+1176G= (n.514+1176G=) n.520G= c.*25G= (n.*25G=) c.3540G= (p.Met1180=) c.3510G= (p.Met1170=) c.3636G= (p.Met1212=) c.2925G= (p.Met975=) c.3597+637G= (n.3597+637G=) c.3547+1176G= (n.3547+1176G=) c.2862G= (p.Met954=) c.2829G= (p.Met943=) c.3042G= (p.Met1014=) | |
X | g.53235146C>G | CA413142597 | IQSEC2 | c.3699G>C (p.Met1233Ile) c.1453+637G>C c.962+637G>C c.316+1176G>C (n.316+1176G>C) c.514+1176G>C (n.514+1176G>C) n.520G>C c.*25G>C (n.*25G>C) c.3540G>C (p.Met1180Ile) c.3510G>C (p.Met1170Ile) c.3636G>C (p.Met1212Ile) c.2925G>C (p.Met975Ile) c.3597+637G>C (n.3597+637G>C) c.3547+1176G>C (n.3547+1176G>C) c.2862G>C (p.Met954Ile) c.2829G>C (p.Met943Ile) c.3042G>C (p.Met1014Ile) | |
X | g.53235146C>T | CA413142598 | IQSEC2 | c.3699G>A (p.Met1233Ile) c.1453+637G>A c.962+637G>A c.316+1176G>A (n.316+1176G>A) c.514+1176G>A (n.514+1176G>A) n.520G>A c.*25G>A (n.*25G>A) c.3540G>A (p.Met1180Ile) c.3510G>A (p.Met1170Ile) c.3636G>A (p.Met1212Ile) c.2925G>A (p.Met975Ile) c.3597+637G>A (n.3597+637G>A) c.3547+1176G>A (n.3547+1176G>A) c.2862G>A (p.Met954Ile) c.2829G>A (p.Met943Ile) c.3042G>A (p.Met1014Ile) | gnomAD v4 |
X | g.53235147A= | CA2429770714 | IQSEC2 | c.3698T= (p.Met1233=) c.1453+636T= c.962+636T= c.316+1175T= (n.316+1175T=) c.514+1175T= (n.514+1175T=) n.519T= c.*24T= (n.*24T=) c.3539T= (p.Met1180=) c.3509T= (p.Met1170=) c.3635T= (p.Met1212=) c.2924T= (p.Met975=) c.3597+636T= (n.3597+636T=) c.3547+1175T= (n.3547+1175T=) c.2861T= (p.Met954=) c.2828T= (p.Met943=) c.3041T= (p.Met1014=) | |
X | g.53235147A>C | CA413142602 | IQSEC2 | c.3698T>G (p.Met1233Arg) c.1453+636T>G c.962+636T>G c.316+1175T>G (n.316+1175T>G) c.514+1175T>G (n.514+1175T>G) n.519T>G c.*24T>G (n.*24T>G) c.3539T>G (p.Met1180Arg) c.3509T>G (p.Met1170Arg) c.3635T>G (p.Met1212Arg) c.2924T>G (p.Met975Arg) c.3597+636T>G (n.3597+636T>G) c.3547+1175T>G (n.3547+1175T>G) c.2861T>G (p.Met954Arg) c.2828T>G (p.Met943Arg) c.3041T>G (p.Met1014Arg) | |
X | g.53235147A>G | CA413142606 | IQSEC2 | c.3698T>C (p.Met1233Thr) c.1453+636T>C c.962+636T>C c.316+1175T>C (n.316+1175T>C) c.514+1175T>C (n.514+1175T>C) n.519T>C c.*24T>C (n.*24T>C) c.3539T>C (p.Met1180Thr) c.3509T>C (p.Met1170Thr) c.3635T>C (p.Met1212Thr) c.2924T>C (p.Met975Thr) c.3597+636T>C (n.3597+636T>C) c.3547+1175T>C (n.3547+1175T>C) c.2861T>C (p.Met954Thr) c.2828T>C (p.Met943Thr) c.3041T>C (p.Met1014Thr) | gnomAD v4 |
X | g.53235147A>T | CA413142608 | IQSEC2 | c.3698T>A (p.Met1233Lys) c.1453+636T>A c.962+636T>A c.316+1175T>A (n.316+1175T>A) c.514+1175T>A (n.514+1175T>A) n.519T>A c.*24T>A (n.*24T>A) c.3539T>A (p.Met1180Lys) c.3509T>A (p.Met1170Lys) c.3635T>A (p.Met1212Lys) c.2924T>A (p.Met975Lys) c.3597+636T>A (n.3597+636T>A) c.3547+1175T>A (n.3547+1175T>A) c.2861T>A (p.Met954Lys) c.2828T>A (p.Met943Lys) c.3041T>A (p.Met1014Lys) | dbSNP |
X | g.53235148T>A | CA413142611 | IQSEC2 | c.3697A>T (p.Met1233Leu) c.1453+635A>T c.962+635A>T c.316+1174A>T (n.316+1174A>T) c.514+1174A>T (n.514+1174A>T) n.518A>T c.*23A>T (n.*23A>T) c.3538A>T (p.Met1180Leu) c.3508A>T (p.Met1170Leu) c.3634A>T (p.Met1212Leu) c.2923A>T (p.Met975Leu) c.3597+635A>T (n.3597+635A>T) c.3547+1174A>T (n.3547+1174A>T) c.2860A>T (p.Met954Leu) c.2827A>T (p.Met943Leu) c.3040A>T (p.Met1014Leu) | gnomAD v4 |
X | g.53235148T>C | CA413142614 | IQSEC2 | c.3697A>G (p.Met1233Val) c.1453+635A>G c.962+635A>G c.316+1174A>G (n.316+1174A>G) c.514+1174A>G (n.514+1174A>G) n.518A>G c.*23A>G (n.*23A>G) c.3538A>G (p.Met1180Val) c.3508A>G (p.Met1170Val) c.3634A>G (p.Met1212Val) c.2923A>G (p.Met975Val) c.3597+635A>G (n.3597+635A>G) c.3547+1174A>G (n.3547+1174A>G) c.2860A>G (p.Met954Val) c.2827A>G (p.Met943Val) c.3040A>G (p.Met1014Val) | |
X | g.53235148T>G | CA413142619 | IQSEC2 | c.3697A>C (p.Met1233Leu) c.1453+635A>C c.962+635A>C c.316+1174A>C (n.316+1174A>C) c.514+1174A>C (n.514+1174A>C) n.518A>C c.*23A>C (n.*23A>C) c.3538A>C (p.Met1180Leu) c.3508A>C (p.Met1170Leu) c.3634A>C (p.Met1212Leu) c.2923A>C (p.Met975Leu) c.3597+635A>C (n.3597+635A>C) c.3547+1174A>C (n.3547+1174A>C) c.2860A>C (p.Met954Leu) c.2827A>C (p.Met943Leu) c.3040A>C (p.Met1014Leu) | gnomAD v4 |
X | g.53235149C>A | CA413142624 | IQSEC2 | c.3696G>T (p.Arg1232Ser) c.1453+634G>T c.962+634G>T c.316+1173G>T (n.316+1173G>T) c.514+1173G>T (n.514+1173G>T) n.517G>T c.*22G>T (n.*22G>T) c.3537G>T (p.Arg1179Ser) c.3507G>T (p.Arg1169Ser) c.3633G>T (p.Arg1211Ser) c.2922G>T (p.Arg974Ser) c.3597+634G>T (n.3597+634G>T) c.3547+1173G>T (n.3547+1173G>T) c.2859G>T (p.Arg953Ser) c.2826G>T (p.Arg942Ser) c.3039G>T (p.Arg1013Ser) | gnomAD v4 |
X | g.53235149C>G | CA413142623 | IQSEC2 | c.3696G>C (p.Arg1232Ser) c.1453+634G>C c.962+634G>C c.316+1173G>C (n.316+1173G>C) c.514+1173G>C (n.514+1173G>C) n.517G>C c.*22G>C (n.*22G>C) c.3537G>C (p.Arg1179Ser) c.3507G>C (p.Arg1169Ser) c.3633G>C (p.Arg1211Ser) c.2922G>C (p.Arg974Ser) c.3597+634G>C (n.3597+634G>C) c.3547+1173G>C (n.3547+1173G>C) c.2859G>C (p.Arg953Ser) c.2826G>C (p.Arg942Ser) c.3039G>C (p.Arg1013Ser) | |
X | g.53235149C>T | CA516674076 | IQSEC2 | c.3696G>A (p.Arg1232=) c.1453+634G>A c.962+634G>A c.316+1173G>A (n.316+1173G>A) c.514+1173G>A (n.514+1173G>A) n.517G>A c.*22G>A (n.*22G>A) c.3537G>A (p.Arg1179=) c.3507G>A (p.Arg1169=) c.3633G>A (p.Arg1211=) c.2922G>A (p.Arg974=) c.3597+634G>A (n.3597+634G>A) c.3547+1173G>A (n.3547+1173G>A) c.2859G>A (p.Arg953=) c.2826G>A (p.Arg942=) c.3039G>A (p.Arg1013=) | gnomAD v4 |
X | g.53235150C>A | CA413142635 | IQSEC2 | c.3695G>T (p.Arg1232Met) c.1453+633G>T c.962+633G>T c.316+1172G>T (n.316+1172G>T) c.514+1172G>T (n.514+1172G>T) n.516G>T c.*21G>T (n.*21G>T) c.3536G>T (p.Arg1179Met) c.3506G>T (p.Arg1169Met) c.3632G>T (p.Arg1211Met) c.2921G>T (p.Arg974Met) c.3597+633G>T (n.3597+633G>T) c.3547+1172G>T (n.3547+1172G>T) c.2858G>T (p.Arg953Met) c.2825G>T (p.Arg942Met) c.3038G>T (p.Arg1013Met) | gnomAD v4 |
X | g.53235150C>G | CA413142638 | IQSEC2 | c.3695G>C (p.Arg1232Thr) c.1453+633G>C c.962+633G>C c.316+1172G>C (n.316+1172G>C) c.514+1172G>C (n.514+1172G>C) n.516G>C c.*21G>C (n.*21G>C) c.3536G>C (p.Arg1179Thr) c.3506G>C (p.Arg1169Thr) c.3632G>C (p.Arg1211Thr) c.2921G>C (p.Arg974Thr) c.3597+633G>C (n.3597+633G>C) c.3547+1172G>C (n.3547+1172G>C) c.2858G>C (p.Arg953Thr) c.2825G>C (p.Arg942Thr) c.3038G>C (p.Arg1013Thr) | |
X | g.53235150C>T | CA413142640 | IQSEC2 | c.3695G>A (p.Arg1232Lys) c.1453+633G>A c.962+633G>A c.316+1172G>A (n.316+1172G>A) c.514+1172G>A (n.514+1172G>A) n.516G>A c.*21G>A (n.*21G>A) c.3536G>A (p.Arg1179Lys) c.3506G>A (p.Arg1169Lys) c.3632G>A (p.Arg1211Lys) c.2921G>A (p.Arg974Lys) c.3597+633G>A (n.3597+633G>A) c.3547+1172G>A (n.3547+1172G>A) c.2858G>A (p.Arg953Lys) c.2825G>A (p.Arg942Lys) c.3038G>A (p.Arg1013Lys) | |
X | g.53235151T>A | CA413142643 | IQSEC2 | c.3694A>T (p.Arg1232Trp) c.1453+632A>T c.962+632A>T c.316+1171A>T (n.316+1171A>T) c.514+1171A>T (n.514+1171A>T) n.515A>T c.*20A>T (n.*20A>T) c.3535A>T (p.Arg1179Trp) c.3505A>T (p.Arg1169Trp) c.3631A>T (p.Arg1211Trp) c.2920A>T (p.Arg974Trp) c.3597+632A>T (n.3597+632A>T) c.3547+1171A>T (n.3547+1171A>T) c.2857A>T (p.Arg953Trp) c.2824A>T (p.Arg942Trp) c.3037A>T (p.Arg1013Trp) | |
X | g.53235151T>C | CA413142645 | IQSEC2 | c.3694A>G (p.Arg1232Gly) c.1453+632A>G c.962+632A>G c.316+1171A>G (n.316+1171A>G) c.514+1171A>G (n.514+1171A>G) n.515A>G c.*20A>G (n.*20A>G) c.3535A>G (p.Arg1179Gly) c.3505A>G (p.Arg1169Gly) c.3631A>G (p.Arg1211Gly) c.2920A>G (p.Arg974Gly) c.3597+632A>G (n.3597+632A>G) c.3547+1171A>G (n.3547+1171A>G) c.2857A>G (p.Arg953Gly) c.2824A>G (p.Arg942Gly) c.3037A>G (p.Arg1013Gly) | |
X | g.53235151T>G | CA516416129 | IQSEC2 | c.3694A>C (p.Arg1232=) c.1453+632A>C c.962+632A>C c.316+1171A>C (n.316+1171A>C) c.514+1171A>C (n.514+1171A>C) n.515A>C c.*20A>C (n.*20A>C) c.3535A>C (p.Arg1179=) c.3505A>C (p.Arg1169=) c.3631A>C (p.Arg1211=) c.2920A>C (p.Arg974=) c.3597+632A>C (n.3597+632A>C) c.3547+1171A>C (n.3547+1171A>C) c.2857A>C (p.Arg953=) c.2824A>C (p.Arg942=) c.3037A>C (p.Arg1013=) | |
X | g.53235152C>A | CA413142649 | IQSEC2 | c.3693G>T (p.Gln1231His) c.1453+631G>T c.962+631G>T c.316+1170G>T (n.316+1170G>T) c.514+1170G>T (n.514+1170G>T) n.514G>T c.*19G>T (n.*19G>T) c.3534G>T (p.Gln1178His) c.3504G>T (p.Gln1168His) c.3630G>T (p.Gln1210His) c.2919G>T (p.Gln973His) c.3597+631G>T (n.3597+631G>T) c.3547+1170G>T (n.3547+1170G>T) c.2856G>T (p.Gln952His) c.2823G>T (p.Gln941His) c.3036G>T (p.Gln1012His) | gnomAD v4 |
X | g.53235152C>G | CA413142651 | IQSEC2 | c.3693G>C (p.Gln1231His) c.1453+631G>C c.962+631G>C c.316+1170G>C (n.316+1170G>C) c.514+1170G>C (n.514+1170G>C) n.514G>C c.*19G>C (n.*19G>C) c.3534G>C (p.Gln1178His) c.3504G>C (p.Gln1168His) c.3630G>C (p.Gln1210His) c.2919G>C (p.Gln973His) c.3597+631G>C (n.3597+631G>C) c.3547+1170G>C (n.3547+1170G>C) c.2856G>C (p.Gln952His) c.2823G>C (p.Gln941His) c.3036G>C (p.Gln1012His) | |
X | g.53235152C>T | CA516416137 | IQSEC2 | c.3693G>A (p.Gln1231=) c.1453+631G>A c.962+631G>A c.316+1170G>A (n.316+1170G>A) c.514+1170G>A (n.514+1170G>A) n.514G>A c.*19G>A (n.*19G>A) c.3534G>A (p.Gln1178=) c.3504G>A (p.Gln1168=) c.3630G>A (p.Gln1210=) c.2919G>A (p.Gln973=) c.3597+631G>A (n.3597+631G>A) c.3547+1170G>A (n.3547+1170G>A) c.2856G>A (p.Gln952=) c.2823G>A (p.Gln941=) c.3036G>A (p.Gln1012=) | |
X | g.53235153T>A | CA413142654 | IQSEC2 | c.3692A>T (p.Gln1231Leu) c.1453+630A>T c.962+630A>T c.316+1169A>T (n.316+1169A>T) c.514+1169A>T (n.514+1169A>T) n.513A>T c.*18A>T (n.*18A>T) c.3533A>T (p.Gln1178Leu) c.3503A>T (p.Gln1168Leu) c.3629A>T (p.Gln1210Leu) c.2918A>T (p.Gln973Leu) c.3597+630A>T (n.3597+630A>T) c.3547+1169A>T (n.3547+1169A>T) c.2855A>T (p.Gln952Leu) c.2822A>T (p.Gln941Leu) c.3035A>T (p.Gln1012Leu) | |
X | g.53235153T>C | CA413142657 | IQSEC2 | c.3692A>G (p.Gln1231Arg) c.1453+630A>G c.962+630A>G c.316+1169A>G (n.316+1169A>G) c.514+1169A>G (n.514+1169A>G) n.513A>G c.*18A>G (n.*18A>G) c.3533A>G (p.Gln1178Arg) c.3503A>G (p.Gln1168Arg) c.3629A>G (p.Gln1210Arg) c.2918A>G (p.Gln973Arg) c.3597+630A>G (n.3597+630A>G) c.3547+1169A>G (n.3547+1169A>G) c.2855A>G (p.Gln952Arg) c.2822A>G (p.Gln941Arg) c.3035A>G (p.Gln1012Arg) | ClinVar dbSNP |
X | g.53235153T>G | CA413142658 | IQSEC2 | c.3692A>C (p.Gln1231Pro) c.1453+630A>C c.962+630A>C c.316+1169A>C (n.316+1169A>C) c.514+1169A>C (n.514+1169A>C) n.513A>C c.*18A>C (n.*18A>C) c.3533A>C (p.Gln1178Pro) c.3503A>C (p.Gln1168Pro) c.3629A>C (p.Gln1210Pro) c.2918A>C (p.Gln973Pro) c.3597+630A>C (n.3597+630A>C) c.3547+1169A>C (n.3547+1169A>C) c.2855A>C (p.Gln952Pro) c.2822A>C (p.Gln941Pro) c.3035A>C (p.Gln1012Pro) | gnomAD v4 |
X | g.53235154G>A | CA413142662 | IQSEC2 | c.3691C>T (p.Gln1231Ter) c.1453+629C>T c.962+629C>T c.316+1168C>T (n.316+1168C>T) c.514+1168C>T (n.514+1168C>T) n.512C>T c.*17C>T (n.*17C>T) c.3532C>T (p.Gln1178Ter) c.3502C>T (p.Gln1168Ter) c.3628C>T (p.Gln1210Ter) c.2917C>T (p.Gln973Ter) c.3597+629C>T (n.3597+629C>T) c.3547+1168C>T (n.3547+1168C>T) c.2854C>T (p.Gln952Ter) c.2821C>T (p.Gln941Ter) c.3034C>T (p.Gln1012Ter) | |
X | g.53235154G>C | CA413142664 | IQSEC2 | c.3691C>G (p.Gln1231Glu) c.1453+629C>G c.962+629C>G c.316+1168C>G (n.316+1168C>G) c.514+1168C>G (n.514+1168C>G) n.512C>G c.*17C>G (n.*17C>G) c.3532C>G (p.Gln1178Glu) c.3502C>G (p.Gln1168Glu) c.3628C>G (p.Gln1210Glu) c.2917C>G (p.Gln973Glu) c.3597+629C>G (n.3597+629C>G) c.3547+1168C>G (n.3547+1168C>G) c.2854C>G (p.Gln952Glu) c.2821C>G (p.Gln941Glu) c.3034C>G (p.Gln1012Glu) | |
X | g.53235154G>T | CA413142667 | IQSEC2 | c.3691C>A (p.Gln1231Lys) c.1453+629C>A c.962+629C>A c.316+1168C>A (n.316+1168C>A) c.514+1168C>A (n.514+1168C>A) n.512C>A c.*17C>A (n.*17C>A) c.3532C>A (p.Gln1178Lys) c.3502C>A (p.Gln1168Lys) c.3628C>A (p.Gln1210Lys) c.2917C>A (p.Gln973Lys) c.3597+629C>A (n.3597+629C>A) c.3547+1168C>A (n.3547+1168C>A) c.2854C>A (p.Gln952Lys) c.2821C>A (p.Gln941Lys) c.3034C>A (p.Gln1012Lys) | gnomAD v4 |
X | g.53235155G>A | CA516416145 | IQSEC2 | c.3690C>T (p.His1230=) c.1453+628C>T c.962+628C>T c.316+1167C>T (n.316+1167C>T) c.514+1167C>T (n.514+1167C>T) n.511C>T c.*16C>T (n.*16C>T) c.3531C>T (p.His1177=) c.3501C>T (p.His1167=) c.3627C>T (p.His1209=) c.2916C>T (p.His972=) c.3597+628C>T (n.3597+628C>T) c.3547+1167C>T (n.3547+1167C>T) c.2853C>T (p.His951=) c.2820C>T (p.His940=) c.3033C>T (p.His1011=) | gnomAD v4 |
X | g.53235155G>C | CA413142677 | IQSEC2 | c.3690C>G (p.His1230Gln) c.1453+628C>G c.962+628C>G c.316+1167C>G (n.316+1167C>G) c.514+1167C>G (n.514+1167C>G) n.511C>G c.*16C>G (n.*16C>G) c.3531C>G (p.His1177Gln) c.3501C>G (p.His1167Gln) c.3627C>G (p.His1209Gln) c.2916C>G (p.His972Gln) c.3597+628C>G (n.3597+628C>G) c.3547+1167C>G (n.3547+1167C>G) c.2853C>G (p.His951Gln) c.2820C>G (p.His940Gln) c.3033C>G (p.His1011Gln) | |
X | g.53235155G>T | CA413142673 | IQSEC2 | c.3690C>A (p.His1230Gln) c.1453+628C>A c.962+628C>A c.316+1167C>A (n.316+1167C>A) c.514+1167C>A (n.514+1167C>A) n.511C>A c.*16C>A (n.*16C>A) c.3531C>A (p.His1177Gln) c.3501C>A (p.His1167Gln) c.3627C>A (p.His1209Gln) c.2916C>A (p.His972Gln) c.3597+628C>A (n.3597+628C>A) c.3547+1167C>A (n.3547+1167C>A) c.2853C>A (p.His951Gln) c.2820C>A (p.His940Gln) c.3033C>A (p.His1011Gln) | |
X | g.53235156T>A | CA413142681 | IQSEC2 | c.3689A>T (p.His1230Leu) c.1453+627A>T c.962+627A>T c.316+1166A>T (n.316+1166A>T) c.514+1166A>T (n.514+1166A>T) n.510A>T c.*15A>T (n.*15A>T) c.3530A>T (p.His1177Leu) c.3500A>T (p.His1167Leu) c.3626A>T (p.His1209Leu) c.2915A>T (p.His972Leu) c.3597+627A>T (n.3597+627A>T) c.3547+1166A>T (n.3547+1166A>T) c.2852A>T (p.His951Leu) c.2819A>T (p.His940Leu) c.3032A>T (p.His1011Leu) | |
X | g.53235156T>C | CA413142691 | IQSEC2 | c.3689A>G (p.His1230Arg) c.1453+627A>G c.962+627A>G c.316+1166A>G (n.316+1166A>G) c.514+1166A>G (n.514+1166A>G) n.510A>G c.*15A>G (n.*15A>G) c.3530A>G (p.His1177Arg) c.3500A>G (p.His1167Arg) c.3626A>G (p.His1209Arg) c.2915A>G (p.His972Arg) c.3597+627A>G (n.3597+627A>G) c.3547+1166A>G (n.3547+1166A>G) c.2852A>G (p.His951Arg) c.2819A>G (p.His940Arg) c.3032A>G (p.His1011Arg) | |
X | g.53235156T>G | CA413142687 | IQSEC2 | c.3689A>C (p.His1230Pro) c.1453+627A>C c.962+627A>C c.316+1166A>C (n.316+1166A>C) c.514+1166A>C (n.514+1166A>C) n.510A>C c.*15A>C (n.*15A>C) c.3530A>C (p.His1177Pro) c.3500A>C (p.His1167Pro) c.3626A>C (p.His1209Pro) c.2915A>C (p.His972Pro) c.3597+627A>C (n.3597+627A>C) c.3547+1166A>C (n.3547+1166A>C) c.2852A>C (p.His951Pro) c.2819A>C (p.His940Pro) c.3032A>C (p.His1011Pro) | gnomAD v3 gnomAD v4 |
X | g.53235157G>A | CA413142697 | IQSEC2 | c.3688C>T (p.His1230Tyr) c.1453+626C>T c.962+626C>T c.316+1165C>T (n.316+1165C>T) c.514+1165C>T (n.514+1165C>T) n.509C>T c.*14C>T (n.*14C>T) c.3529C>T (p.His1177Tyr) c.3499C>T (p.His1167Tyr) c.3625C>T (p.His1209Tyr) c.2914C>T (p.His972Tyr) c.3597+626C>T (n.3597+626C>T) c.3547+1165C>T (n.3547+1165C>T) c.2851C>T (p.His951Tyr) c.2818C>T (p.His940Tyr) c.3031C>T (p.His1011Tyr) | |
X | g.53235157G>C | CA413142706 | IQSEC2 | c.3688C>G (p.His1230Asp) c.1453+626C>G c.962+626C>G c.316+1165C>G (n.316+1165C>G) c.514+1165C>G (n.514+1165C>G) n.509C>G c.*14C>G (n.*14C>G) c.3529C>G (p.His1177Asp) c.3499C>G (p.His1167Asp) c.3625C>G (p.His1209Asp) c.2914C>G (p.His972Asp) c.3597+626C>G (n.3597+626C>G) c.3547+1165C>G (n.3547+1165C>G) c.2851C>G (p.His951Asp) c.2818C>G (p.His940Asp) c.3031C>G (p.His1011Asp) | |
X | g.53235157G>T | CA413142700 | IQSEC2 | c.3688C>A (p.His1230Asn) c.1453+626C>A c.962+626C>A c.316+1165C>A (n.316+1165C>A) c.514+1165C>A (n.514+1165C>A) n.509C>A c.*14C>A (n.*14C>A) c.3529C>A (p.His1177Asn) c.3499C>A (p.His1167Asn) c.3625C>A (p.His1209Asn) c.2914C>A (p.His972Asn) c.3597+626C>A (n.3597+626C>A) c.3547+1165C>A (n.3547+1165C>A) c.2851C>A (p.His951Asn) c.2818C>A (p.His940Asn) c.3031C>A (p.His1011Asn) | gnomAD v4 |
X | g.53235158A>C | CA516416164 | IQSEC2 | c.3687T>G (p.Pro1229=) c.1453+625T>G c.962+625T>G c.316+1164T>G (n.316+1164T>G) c.514+1164T>G (n.514+1164T>G) n.508T>G c.*13T>G (n.*13T>G) c.3528T>G (p.Pro1176=) c.3498T>G (p.Pro1166=) c.3624T>G (p.Pro1208=) c.2913T>G (p.Pro971=) c.3597+625T>G (n.3597+625T>G) c.3547+1164T>G (n.3547+1164T>G) c.2850T>G (p.Pro950=) c.2817T>G (p.Pro939=) c.3030T>G (p.Pro1010=) | |
X | g.53235158A>G | CA516416166 | IQSEC2 | c.3687T>C (p.Pro1229=) c.1453+625T>C c.962+625T>C c.316+1164T>C (n.316+1164T>C) c.514+1164T>C (n.514+1164T>C) n.508T>C c.*13T>C (n.*13T>C) c.3528T>C (p.Pro1176=) c.3498T>C (p.Pro1166=) c.3624T>C (p.Pro1208=) c.2913T>C (p.Pro971=) c.3597+625T>C (n.3597+625T>C) c.3547+1164T>C (n.3547+1164T>C) c.2850T>C (p.Pro950=) c.2817T>C (p.Pro939=) c.3030T>C (p.Pro1010=) | |
X | g.53235158A>T | CA516416169 | IQSEC2 | c.3687T>A (p.Pro1229=) c.1453+625T>A c.962+625T>A c.316+1164T>A (n.316+1164T>A) c.514+1164T>A (n.514+1164T>A) n.508T>A c.*13T>A (n.*13T>A) c.3528T>A (p.Pro1176=) c.3498T>A (p.Pro1166=) c.3624T>A (p.Pro1208=) c.2913T>A (p.Pro971=) c.3597+625T>A (n.3597+625T>A) c.3547+1164T>A (n.3547+1164T>A) c.2850T>A (p.Pro950=) c.2817T>A (p.Pro939=) c.3030T>A (p.Pro1010=) | gnomAD v4 |
X | g.53235159G>A | CA413142710 | IQSEC2 | c.3686C>T (p.Pro1229Leu) c.1453+624C>T c.962+624C>T c.316+1163C>T (n.316+1163C>T) c.514+1163C>T (n.514+1163C>T) n.507C>T c.*12C>T (n.*12C>T) c.3527C>T (p.Pro1176Leu) c.3497C>T (p.Pro1166Leu) c.3623C>T (p.Pro1208Leu) c.2912C>T (p.Pro971Leu) c.3597+624C>T (n.3597+624C>T) c.3547+1163C>T (n.3547+1163C>T) c.2849C>T (p.Pro950Leu) c.2816C>T (p.Pro939Leu) c.3029C>T (p.Pro1010Leu) | |
X | g.53235159G>C | CA413142713 | IQSEC2 | c.3686C>G (p.Pro1229Arg) c.1453+624C>G c.962+624C>G c.316+1163C>G (n.316+1163C>G) c.514+1163C>G (n.514+1163C>G) n.507C>G c.*12C>G (n.*12C>G) c.3527C>G (p.Pro1176Arg) c.3497C>G (p.Pro1166Arg) c.3623C>G (p.Pro1208Arg) c.2912C>G (p.Pro971Arg) c.3597+624C>G (n.3597+624C>G) c.3547+1163C>G (n.3547+1163C>G) c.2849C>G (p.Pro950Arg) c.2816C>G (p.Pro939Arg) c.3029C>G (p.Pro1010Arg) | |
X | g.53235159G>T | CA413142717 | IQSEC2 | c.3686C>A (p.Pro1229His) c.1453+624C>A c.962+624C>A c.316+1163C>A (n.316+1163C>A) c.514+1163C>A (n.514+1163C>A) n.507C>A c.*12C>A (n.*12C>A) c.3527C>A (p.Pro1176His) c.3497C>A (p.Pro1166His) c.3623C>A (p.Pro1208His) c.2912C>A (p.Pro971His) c.3597+624C>A (n.3597+624C>A) c.3547+1163C>A (n.3547+1163C>A) c.2849C>A (p.Pro950His) c.2816C>A (p.Pro939His) c.3029C>A (p.Pro1010His) | gnomAD v4 |
X | g.53235160G>A | CA413142721 | IQSEC2 | c.3685C>T (p.Pro1229Ser) c.1453+623C>T c.962+623C>T c.316+1162C>T (n.316+1162C>T) c.514+1162C>T (n.514+1162C>T) n.506C>T c.*11C>T (n.*11C>T) c.3526C>T (p.Pro1176Ser) c.3496C>T (p.Pro1166Ser) c.3622C>T (p.Pro1208Ser) c.2911C>T (p.Pro971Ser) c.3597+623C>T (n.3597+623C>T) c.3547+1162C>T (n.3547+1162C>T) c.2848C>T (p.Pro950Ser) c.2815C>T (p.Pro939Ser) c.3028C>T (p.Pro1010Ser) | |
X | g.53235160G>C | CA413142724 | IQSEC2 | c.3685C>G (p.Pro1229Ala) c.1453+623C>G c.962+623C>G c.316+1162C>G (n.316+1162C>G) c.514+1162C>G (n.514+1162C>G) n.506C>G c.*11C>G (n.*11C>G) c.3526C>G (p.Pro1176Ala) c.3496C>G (p.Pro1166Ala) c.3622C>G (p.Pro1208Ala) c.2911C>G (p.Pro971Ala) c.3597+623C>G (n.3597+623C>G) c.3547+1162C>G (n.3547+1162C>G) c.2848C>G (p.Pro950Ala) c.2815C>G (p.Pro939Ala) c.3028C>G (p.Pro1010Ala) | |
X | g.53235160G>T | CA413142728 | IQSEC2 | c.3685C>A (p.Pro1229Thr) c.1453+623C>A c.962+623C>A c.316+1162C>A (n.316+1162C>A) c.514+1162C>A (n.514+1162C>A) n.506C>A c.*11C>A (n.*11C>A) c.3526C>A (p.Pro1176Thr) c.3496C>A (p.Pro1166Thr) c.3622C>A (p.Pro1208Thr) c.2911C>A (p.Pro971Thr) c.3597+623C>A (n.3597+623C>A) c.3547+1162C>A (n.3547+1162C>A) c.2848C>A (p.Pro950Thr) c.2815C>A (p.Pro939Thr) c.3028C>A (p.Pro1010Thr) | |
X | g.53235161G>A | CA516416198 | IQSEC2 | c.3684C>T (p.Arg1228=) c.1453+622C>T c.962+622C>T c.316+1161C>T (n.316+1161C>T) c.514+1161C>T (n.514+1161C>T) n.505C>T c.*10C>T (n.*10C>T) c.3525C>T (p.Arg1175=) c.3495C>T (p.Arg1165=) c.3621C>T (p.Arg1207=) c.2910C>T (p.Arg970=) c.3597+622C>T (n.3597+622C>T) c.3547+1161C>T (n.3547+1161C>T) c.2847C>T (p.Arg949=) c.2814C>T (p.Arg938=) c.3027C>T (p.Arg1009=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53235161G>C | CA516416186 | IQSEC2 | c.3684C>G (p.Arg1228=) c.1453+622C>G c.962+622C>G c.316+1161C>G (n.316+1161C>G) c.514+1161C>G (n.514+1161C>G) n.505C>G c.*10C>G (n.*10C>G) c.3525C>G (p.Arg1175=) c.3495C>G (p.Arg1165=) c.3621C>G (p.Arg1207=) c.2910C>G (p.Arg970=) c.3597+622C>G (n.3597+622C>G) c.3547+1161C>G (n.3547+1161C>G) c.2847C>G (p.Arg949=) c.2814C>G (p.Arg938=) c.3027C>G (p.Arg1009=) | |
X | g.53235161G>T | CA516416195 | IQSEC2 | c.3684C>A (p.Arg1228=) c.1453+622C>A c.962+622C>A c.316+1161C>A (n.316+1161C>A) c.514+1161C>A (n.514+1161C>A) n.505C>A c.*10C>A (n.*10C>A) c.3525C>A (p.Arg1175=) c.3495C>A (p.Arg1165=) c.3621C>A (p.Arg1207=) c.2910C>A (p.Arg970=) c.3597+622C>A (n.3597+622C>A) c.3547+1161C>A (n.3547+1161C>A) c.2847C>A (p.Arg949=) c.2814C>A (p.Arg938=) c.3027C>A (p.Arg1009=) | gnomAD v4 |
X | g.53235162C>A | CA413142735 | IQSEC2 | c.3683G>T (p.Arg1228Leu) c.1453+621G>T c.962+621G>T c.316+1160G>T (n.316+1160G>T) c.514+1160G>T (n.514+1160G>T) n.504G>T c.*9G>T (n.*9G>T) c.3524G>T (p.Arg1175Leu) c.3494G>T (p.Arg1165Leu) c.3620G>T (p.Arg1207Leu) c.2909G>T (p.Arg970Leu) c.3597+621G>T (n.3597+621G>T) c.3547+1160G>T (n.3547+1160G>T) c.2846G>T (p.Arg949Leu) c.2813G>T (p.Arg938Leu) c.3026G>T (p.Arg1009Leu) | |
X | g.53235162C= | CA2429770715 | IQSEC2 | c.3683G= (p.Arg1228=) c.1453+621G= c.962+621G= c.316+1160G= (n.316+1160G=) c.514+1160G= (n.514+1160G=) n.504G= c.*9G= (n.*9G=) c.3524G= (p.Arg1175=) c.3494G= (p.Arg1165=) c.3620G= (p.Arg1207=) c.2909G= (p.Arg970=) c.3597+621G= (n.3597+621G=) c.3547+1160G= (n.3547+1160G=) c.2846G= (p.Arg949=) c.2813G= (p.Arg938=) c.3026G= (p.Arg1009=) | |
X | g.53235162C>G | CA413142738 | IQSEC2 | c.3683G>C (p.Arg1228Pro) c.1453+621G>C c.962+621G>C c.316+1160G>C (n.316+1160G>C) c.514+1160G>C (n.514+1160G>C) n.504G>C c.*9G>C (n.*9G>C) c.3524G>C (p.Arg1175Pro) c.3494G>C (p.Arg1165Pro) c.3620G>C (p.Arg1207Pro) c.2909G>C (p.Arg970Pro) c.3597+621G>C (n.3597+621G>C) c.3547+1160G>C (n.3547+1160G>C) c.2846G>C (p.Arg949Pro) c.2813G>C (p.Arg938Pro) c.3026G>C (p.Arg1009Pro) | |
X | g.53235162C>T | CA413142742 | IQSEC2 | c.3683G>A (p.Arg1228His) c.1453+621G>A c.962+621G>A c.316+1160G>A (n.316+1160G>A) c.514+1160G>A (n.514+1160G>A) n.504G>A c.*9G>A (n.*9G>A) c.3524G>A (p.Arg1175His) c.3494G>A (p.Arg1165His) c.3620G>A (p.Arg1207His) c.2909G>A (p.Arg970His) c.3597+621G>A (n.3597+621G>A) c.3547+1160G>A (n.3547+1160G>A) c.2846G>A (p.Arg949His) c.2813G>A (p.Arg938His) c.3026G>A (p.Arg1009His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235163G>A | CA413142753 | IQSEC2 | c.3682C>T (p.Arg1228Cys) c.1453+620C>T c.962+620C>T c.316+1159C>T (n.316+1159C>T) c.514+1159C>T (n.514+1159C>T) n.503C>T c.*8C>T (n.*8C>T) c.3523C>T (p.Arg1175Cys) c.3493C>T (p.Arg1165Cys) c.3619C>T (p.Arg1207Cys) c.2908C>T (p.Arg970Cys) c.3597+620C>T (n.3597+620C>T) c.3547+1159C>T (n.3547+1159C>T) c.2845C>T (p.Arg949Cys) c.2812C>T (p.Arg938Cys) c.3025C>T (p.Arg1009Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235163G>C | CA413142756 | IQSEC2 | c.3682C>G (p.Arg1228Gly) c.1453+620C>G c.962+620C>G c.316+1159C>G (n.316+1159C>G) c.514+1159C>G (n.514+1159C>G) n.503C>G c.*8C>G (n.*8C>G) c.3523C>G (p.Arg1175Gly) c.3493C>G (p.Arg1165Gly) c.3619C>G (p.Arg1207Gly) c.2908C>G (p.Arg970Gly) c.3597+620C>G (n.3597+620C>G) c.3547+1159C>G (n.3547+1159C>G) c.2845C>G (p.Arg949Gly) c.2812C>G (p.Arg938Gly) c.3025C>G (p.Arg1009Gly) | |
X | g.53235163G= | CA2429770716 | IQSEC2 | c.3682C= (p.Arg1228=) c.1453+620C= c.962+620C= c.316+1159C= (n.316+1159C=) c.514+1159C= (n.514+1159C=) n.503C= c.*8C= (n.*8C=) c.3523C= (p.Arg1175=) c.3493C= (p.Arg1165=) c.3619C= (p.Arg1207=) c.2908C= (p.Arg970=) c.3597+620C= (n.3597+620C=) c.3547+1159C= (n.3547+1159C=) c.2845C= (p.Arg949=) c.2812C= (p.Arg938=) c.3025C= (p.Arg1009=) | |
X | g.53235163G>T | CA413142760 | IQSEC2 | c.3682C>A (p.Arg1228Ser) c.1453+620C>A c.962+620C>A c.316+1159C>A (n.316+1159C>A) c.514+1159C>A (n.514+1159C>A) n.503C>A c.*8C>A (n.*8C>A) c.3523C>A (p.Arg1175Ser) c.3493C>A (p.Arg1165Ser) c.3619C>A (p.Arg1207Ser) c.2908C>A (p.Arg970Ser) c.3597+620C>A (n.3597+620C>A) c.3547+1159C>A (n.3547+1159C>A) c.2845C>A (p.Arg949Ser) c.2812C>A (p.Arg938Ser) c.3025C>A (p.Arg1009Ser) | gnomAD v4 |
X | g.53235164T>A | CA516416211 | IQSEC2 | c.3681A>T (p.Pro1227=) c.1453+619A>T c.962+619A>T c.316+1158A>T (n.316+1158A>T) c.514+1158A>T (n.514+1158A>T) n.502A>T c.*7A>T (n.*7A>T) c.3522A>T (p.Pro1174=) c.3492A>T (p.Pro1164=) c.3618A>T (p.Pro1206=) c.2907A>T (p.Pro969=) c.3597+619A>T (n.3597+619A>T) c.3547+1158A>T (n.3547+1158A>T) c.2844A>T (p.Pro948=) c.2811A>T (p.Pro937=) c.3024A>T (p.Pro1008=) | |
X | g.53235164T>C | CA516416212 | IQSEC2 | c.3681A>G (p.Pro1227=) c.1453+619A>G c.962+619A>G c.316+1158A>G (n.316+1158A>G) c.514+1158A>G (n.514+1158A>G) n.502A>G c.*7A>G (n.*7A>G) c.3522A>G (p.Pro1174=) c.3492A>G (p.Pro1164=) c.3618A>G (p.Pro1206=) c.2907A>G (p.Pro969=) c.3597+619A>G (n.3597+619A>G) c.3547+1158A>G (n.3547+1158A>G) c.2844A>G (p.Pro948=) c.2811A>G (p.Pro937=) c.3024A>G (p.Pro1008=) | gnomAD v4 |
X | g.53235164T>G | CA516416215 | IQSEC2 | c.3681A>C (p.Pro1227=) c.1453+619A>C c.962+619A>C c.316+1158A>C (n.316+1158A>C) c.514+1158A>C (n.514+1158A>C) n.502A>C c.*7A>C (n.*7A>C) c.3522A>C (p.Pro1174=) c.3492A>C (p.Pro1164=) c.3618A>C (p.Pro1206=) c.2907A>C (p.Pro969=) c.3597+619A>C (n.3597+619A>C) c.3547+1158A>C (n.3547+1158A>C) c.2844A>C (p.Pro948=) c.2811A>C (p.Pro937=) c.3024A>C (p.Pro1008=) | |
X | g.53235165G>A | CA413142785 | IQSEC2 | c.3680C>T (p.Pro1227Leu) c.1453+618C>T c.962+618C>T c.316+1157C>T (n.316+1157C>T) c.514+1157C>T (n.514+1157C>T) n.501C>T c.*6C>T (n.*6C>T) c.3521C>T (p.Pro1174Leu) c.3491C>T (p.Pro1164Leu) c.3617C>T (p.Pro1206Leu) c.2906C>T (p.Pro969Leu) c.3597+618C>T (n.3597+618C>T) c.3547+1157C>T (n.3547+1157C>T) c.2843C>T (p.Pro948Leu) c.2810C>T (p.Pro937Leu) c.3023C>T (p.Pro1008Leu) | |
X | g.53235165G>C | CA413142768 | IQSEC2 | c.3680C>G (p.Pro1227Arg) c.1453+618C>G c.962+618C>G c.316+1157C>G (n.316+1157C>G) c.514+1157C>G (n.514+1157C>G) n.501C>G c.*6C>G (n.*6C>G) c.3521C>G (p.Pro1174Arg) c.3491C>G (p.Pro1164Arg) c.3617C>G (p.Pro1206Arg) c.2906C>G (p.Pro969Arg) c.3597+618C>G (n.3597+618C>G) c.3547+1157C>G (n.3547+1157C>G) c.2843C>G (p.Pro948Arg) c.2810C>G (p.Pro937Arg) c.3023C>G (p.Pro1008Arg) | |
X | g.53235165G>T | CA413142771 | IQSEC2 | c.3680C>A (p.Pro1227Gln) c.1453+618C>A c.962+618C>A c.316+1157C>A (n.316+1157C>A) c.514+1157C>A (n.514+1157C>A) n.501C>A c.*6C>A (n.*6C>A) c.3521C>A (p.Pro1174Gln) c.3491C>A (p.Pro1164Gln) c.3617C>A (p.Pro1206Gln) c.2906C>A (p.Pro969Gln) c.3597+618C>A (n.3597+618C>A) c.3547+1157C>A (n.3547+1157C>A) c.2843C>A (p.Pro948Gln) c.2810C>A (p.Pro937Gln) c.3023C>A (p.Pro1008Gln) | gnomAD v4 |
X | g.53235166del | CA2693794670 | IQSEC2 | c.3680del (p.Pro1227HisfsTer?) c.1453+618del c.962+618del c.316+1157del (n.316+1157del) c.514+1157del (n.514+1157del) n.501del c.*6del (n.*6del) c.3521del (p.Pro1174HisfsTer?) c.3491del (p.Pro1164HisfsTer?) c.3617del (p.Pro1206HisfsTer?) c.2906del (p.Pro969HisfsTer?) c.3597+618del (n.3597+618del) c.3547+1157del (n.3547+1157del) c.2843del (p.Pro948HisfsTer?) c.2810del (p.Pro937HisfsTer?) c.3023del (p.Pro1008HisfsTer?) | gnomAD v4 |
X | g.53235166G>A | CA413142792 | IQSEC2 | c.3679C>T (p.Pro1227Ser) c.1453+617C>T c.962+617C>T c.316+1156C>T (n.316+1156C>T) c.514+1156C>T (n.514+1156C>T) n.500C>T c.*5C>T (n.*5C>T) c.3520C>T (p.Pro1174Ser) c.3490C>T (p.Pro1164Ser) c.3616C>T (p.Pro1206Ser) c.2905C>T (p.Pro969Ser) c.3597+617C>T (n.3597+617C>T) c.3547+1156C>T (n.3547+1156C>T) c.2842C>T (p.Pro948Ser) c.2809C>T (p.Pro937Ser) c.3022C>T (p.Pro1008Ser) | |
X | g.53235166G>C | CA413142796 | IQSEC2 | c.3679C>G (p.Pro1227Ala) c.1453+617C>G c.962+617C>G c.316+1156C>G (n.316+1156C>G) c.514+1156C>G (n.514+1156C>G) n.500C>G c.*5C>G (n.*5C>G) c.3520C>G (p.Pro1174Ala) c.3490C>G (p.Pro1164Ala) c.3616C>G (p.Pro1206Ala) c.2905C>G (p.Pro969Ala) c.3597+617C>G (n.3597+617C>G) c.3547+1156C>G (n.3547+1156C>G) c.2842C>G (p.Pro948Ala) c.2809C>G (p.Pro937Ala) c.3022C>G (p.Pro1008Ala) | |
X | g.53235166G>T | CA413142798 | IQSEC2 | c.3679C>A (p.Pro1227Thr) c.1453+617C>A c.962+617C>A c.316+1156C>A (n.316+1156C>A) c.514+1156C>A (n.514+1156C>A) n.500C>A c.*5C>A (n.*5C>A) c.3520C>A (p.Pro1174Thr) c.3490C>A (p.Pro1164Thr) c.3616C>A (p.Pro1206Thr) c.2905C>A (p.Pro969Thr) c.3597+617C>A (n.3597+617C>A) c.3547+1156C>A (n.3547+1156C>A) c.2842C>A (p.Pro948Thr) c.2809C>A (p.Pro937Thr) c.3022C>A (p.Pro1008Thr) | gnomAD v4 |
X | g.53235167A>C | CA413142812 | IQSEC2 | c.3678T>G (p.Ser1226Arg) c.1453+616T>G c.962+616T>G c.316+1155T>G (n.316+1155T>G) c.514+1155T>G (n.514+1155T>G) n.499T>G c.*4T>G (n.*4T>G) c.3519T>G (p.Ser1173Arg) c.3489T>G (p.Ser1163Arg) c.3615T>G (p.Ser1205Arg) c.2904T>G (p.Ser968Arg) c.3597+616T>G (n.3597+616T>G) c.3547+1155T>G (n.3547+1155T>G) c.2841T>G (p.Ser947Arg) c.2808T>G (p.Ser936Arg) c.3021T>G (p.Ser1007Arg) | |
X | g.53235167A>G | CA516416236 | IQSEC2 | c.3678T>C (p.Ser1226=) c.1453+616T>C c.962+616T>C c.316+1155T>C (n.316+1155T>C) c.514+1155T>C (n.514+1155T>C) n.499T>C c.*4T>C (n.*4T>C) c.3519T>C (p.Ser1173=) c.3489T>C (p.Ser1163=) c.3615T>C (p.Ser1205=) c.2904T>C (p.Ser968=) c.3597+616T>C (n.3597+616T>C) c.3547+1155T>C (n.3547+1155T>C) c.2841T>C (p.Ser947=) c.2808T>C (p.Ser936=) c.3021T>C (p.Ser1007=) | |
X | g.53235167A>T | CA413142814 | IQSEC2 | c.3678T>A (p.Ser1226Arg) c.1453+616T>A c.962+616T>A c.316+1155T>A (n.316+1155T>A) c.514+1155T>A (n.514+1155T>A) n.499T>A c.*4T>A (n.*4T>A) c.3519T>A (p.Ser1173Arg) c.3489T>A (p.Ser1163Arg) c.3615T>A (p.Ser1205Arg) c.2904T>A (p.Ser968Arg) c.3597+616T>A (n.3597+616T>A) c.3547+1155T>A (n.3547+1155T>A) c.2841T>A (p.Ser947Arg) c.2808T>A (p.Ser936Arg) c.3021T>A (p.Ser1007Arg) | |
X | g.53235168C>A | CA413142822 | IQSEC2 | c.3677G>T (p.Ser1226Ile) c.1453+615G>T c.962+615G>T c.316+1154G>T (n.316+1154G>T) c.514+1154G>T (n.514+1154G>T) n.498G>T c.*3G>T (n.*3G>T) c.3518G>T (p.Ser1173Ile) c.3488G>T (p.Ser1163Ile) c.3614G>T (p.Ser1205Ile) c.2903G>T (p.Ser968Ile) c.3597+615G>T (n.3597+615G>T) c.3547+1154G>T (n.3547+1154G>T) c.2840G>T (p.Ser947Ile) c.2807G>T (p.Ser936Ile) c.3020G>T (p.Ser1007Ile) | |
X | g.53235168C>G | CA413142825 | IQSEC2 | c.3677G>C (p.Ser1226Thr) c.1453+615G>C c.962+615G>C c.316+1154G>C (n.316+1154G>C) c.514+1154G>C (n.514+1154G>C) n.498G>C c.*3G>C (n.*3G>C) c.3518G>C (p.Ser1173Thr) c.3488G>C (p.Ser1163Thr) c.3614G>C (p.Ser1205Thr) c.2903G>C (p.Ser968Thr) c.3597+615G>C (n.3597+615G>C) c.3547+1154G>C (n.3547+1154G>C) c.2840G>C (p.Ser947Thr) c.2807G>C (p.Ser936Thr) c.3020G>C (p.Ser1007Thr) | |
X | g.53235168C>T | CA413142828 | IQSEC2 | c.3677G>A (p.Ser1226Asn) c.1453+615G>A c.962+615G>A c.316+1154G>A (n.316+1154G>A) c.514+1154G>A (n.514+1154G>A) n.498G>A c.*3G>A (n.*3G>A) c.3518G>A (p.Ser1173Asn) c.3488G>A (p.Ser1163Asn) c.3614G>A (p.Ser1205Asn) c.2903G>A (p.Ser968Asn) c.3597+615G>A (n.3597+615G>A) c.3547+1154G>A (n.3547+1154G>A) c.2840G>A (p.Ser947Asn) c.2807G>A (p.Ser936Asn) c.3020G>A (p.Ser1007Asn) | |
X | g.53235169T>A | CA413142829 | IQSEC2 | c.3676A>T (p.Ser1226Cys) c.1453+614A>T c.962+614A>T c.316+1153A>T (n.316+1153A>T) c.514+1153A>T (n.514+1153A>T) n.497A>T c.*2A>T (n.*2A>T) c.3517A>T (p.Ser1173Cys) c.3487A>T (p.Ser1163Cys) c.3613A>T (p.Ser1205Cys) c.2902A>T (p.Ser968Cys) c.3597+614A>T (n.3597+614A>T) c.3547+1153A>T (n.3547+1153A>T) c.2839A>T (p.Ser947Cys) c.2806A>T (p.Ser936Cys) c.3019A>T (p.Ser1007Cys) | |
X | g.53235169T>C | CA413142830 | IQSEC2 | c.3676A>G (p.Ser1226Gly) c.1453+614A>G c.962+614A>G c.316+1153A>G (n.316+1153A>G) c.514+1153A>G (n.514+1153A>G) n.497A>G c.*2A>G (n.*2A>G) c.3517A>G (p.Ser1173Gly) c.3487A>G (p.Ser1163Gly) c.3613A>G (p.Ser1205Gly) c.2902A>G (p.Ser968Gly) c.3597+614A>G (n.3597+614A>G) c.3547+1153A>G (n.3547+1153A>G) c.2839A>G (p.Ser947Gly) c.2806A>G (p.Ser936Gly) c.3019A>G (p.Ser1007Gly) | gnomAD v4 |
X | g.53235169T>G | CA413142831 | IQSEC2 | c.3676A>C (p.Ser1226Arg) c.1453+614A>C c.962+614A>C c.316+1153A>C (n.316+1153A>C) c.514+1153A>C (n.514+1153A>C) n.497A>C c.*2A>C (n.*2A>C) c.3517A>C (p.Ser1173Arg) c.3487A>C (p.Ser1163Arg) c.3613A>C (p.Ser1205Arg) c.2902A>C (p.Ser968Arg) c.3597+614A>C (n.3597+614A>C) c.3547+1153A>C (n.3547+1153A>C) c.2839A>C (p.Ser947Arg) c.2806A>C (p.Ser936Arg) c.3019A>C (p.Ser1007Arg) | |
X | g.53235170G>A | CA516416254 | IQSEC2 | c.3675C>T (p.Ser1225=) c.1453+613C>T c.962+613C>T c.316+1152C>T (n.316+1152C>T) c.514+1152C>T (n.514+1152C>T) n.496C>T c.*1C>T (n.*1C>T) c.3516C>T (p.Ser1172=) c.3486C>T (p.Ser1162=) c.3612C>T (p.Ser1204=) c.2901C>T (p.Ser967=) c.3597+613C>T (n.3597+613C>T) c.3547+1152C>T (n.3547+1152C>T) c.2838C>T (p.Ser946=) c.2805C>T (p.Ser935=) c.3018C>T (p.Ser1006=) | |
X | g.53235170G>C | CA413142833 | IQSEC2 | c.3675C>G (p.Ser1225Arg) c.1453+613C>G c.962+613C>G c.316+1152C>G (n.316+1152C>G) c.514+1152C>G (n.514+1152C>G) n.496C>G c.*1C>G (n.*1C>G) c.3516C>G (p.Ser1172Arg) c.3486C>G (p.Ser1162Arg) c.3612C>G (p.Ser1204Arg) c.2901C>G (p.Ser967Arg) c.3597+613C>G (n.3597+613C>G) c.3547+1152C>G (n.3547+1152C>G) c.2838C>G (p.Ser946Arg) c.2805C>G (p.Ser935Arg) c.3018C>G (p.Ser1006Arg) | |
X | g.53235170G>T | CA413142840 | IQSEC2 | c.3675C>A (p.Ser1225Arg) c.1453+613C>A c.962+613C>A c.316+1152C>A (n.316+1152C>A) c.514+1152C>A (n.514+1152C>A) n.496C>A c.*1C>A (n.*1C>A) c.3516C>A (p.Ser1172Arg) c.3486C>A (p.Ser1162Arg) c.3612C>A (p.Ser1204Arg) c.2901C>A (p.Ser967Arg) c.3597+613C>A (n.3597+613C>A) c.3547+1152C>A (n.3547+1152C>A) c.2838C>A (p.Ser946Arg) c.2805C>A (p.Ser935Arg) c.3018C>A (p.Ser1006Arg) | gnomAD v4 |
X | g.53235171C>A | CA413142846 | IQSEC2 | c.3674G>T (p.Ser1225Ile) c.1453+612G>T c.962+612G>T c.316+1151G>T (n.316+1151G>T) c.514+1151G>T (n.514+1151G>T) n.495G>T c.3465G>T (p.Ter1155Tyr) c.3515G>T (p.Ser1172Ile) c.3485G>T (p.Ser1162Ile) c.2850G>T (p.Ter950Tyr) c.3611G>T (p.Ser1204Ile) c.2900G>T (p.Ser967Ile) c.3597+612G>T (n.3597+612G>T) c.3547+1151G>T (n.3547+1151G>T) c.3561G>T (p.Ter1187Tyr) c.2837G>T (p.Ser946Ile) c.2804G>T (p.Ser935Ile) c.3017G>T (p.Ser1006Ile) | |
X | g.53235171C>G | CA413142849 | IQSEC2 | c.3674G>C (p.Ser1225Thr) c.1453+612G>C c.962+612G>C c.316+1151G>C (n.316+1151G>C) c.514+1151G>C (n.514+1151G>C) n.495G>C c.3465G>C (p.Ter1155Tyr) c.3515G>C (p.Ser1172Thr) c.3485G>C (p.Ser1162Thr) c.2850G>C (p.Ter950Tyr) c.3611G>C (p.Ser1204Thr) c.2900G>C (p.Ser967Thr) c.3597+612G>C (n.3597+612G>C) c.3547+1151G>C (n.3547+1151G>C) c.3561G>C (p.Ter1187Tyr) c.2837G>C (p.Ser946Thr) c.2804G>C (p.Ser935Thr) c.3017G>C (p.Ser1006Thr) | |
X | g.53235171C>T | CA413142854 | IQSEC2 | c.3674G>A (p.Ser1225Asn) c.1453+612G>A c.962+612G>A c.316+1151G>A (n.316+1151G>A) c.514+1151G>A (n.514+1151G>A) n.495G>A c.3465G>A (p.Ter1155=) c.3515G>A (p.Ser1172Asn) c.3485G>A (p.Ser1162Asn) c.2850G>A (p.Ter950=) c.3611G>A (p.Ser1204Asn) c.2900G>A (p.Ser967Asn) c.3597+612G>A (n.3597+612G>A) c.3547+1151G>A (n.3547+1151G>A) c.3561G>A (p.Ter1187=) c.2837G>A (p.Ser946Asn) c.2804G>A (p.Ser935Asn) c.3017G>A (p.Ser1006Asn) | gnomAD v4 |
X | g.53235171dup | CA2499226780 | IQSEC2 | c.3674dup (p.Ser1225ArgfsTer?) c.1453+612dup c.962+612dup c.316+1151dup (n.316+1151dup) c.514+1151dup (n.514+1151dup) n.495dup c.3465dup (n.3465dup) c.3515dup (p.Ser1172ArgfsTer?) c.3485dup (p.Ser1162ArgfsTer?) c.2850dup (n.2850dup) c.3611dup (p.Ser1204ArgfsTer?) c.2900dup (p.Ser967ArgfsTer?) c.3597+612dup (n.3597+612dup) c.3547+1151dup (n.3547+1151dup) c.3561dup (n.3561dup) c.2837dup (p.Ser946ArgfsTer?) c.2804dup (p.Ser935ArgfsTer?) c.3017dup (p.Ser1006ArgfsTer?) | ClinVar dbSNP |
X | g.53235172T>A | CA413142857 | IQSEC2 | c.3673A>T (p.Ser1225Cys) c.1453+611A>T c.962+611A>T c.316+1150A>T (n.316+1150A>T) c.514+1150A>T (n.514+1150A>T) n.494A>T c.3464A>T (p.Ter1155Leu) c.3514A>T (p.Ser1172Cys) c.3484A>T (p.Ser1162Cys) c.2849A>T (p.Ter950Leu) c.3610A>T (p.Ser1204Cys) c.2899A>T (p.Ser967Cys) c.3597+611A>T (n.3597+611A>T) c.3547+1150A>T (n.3547+1150A>T) c.3560A>T (p.Ter1187Leu) c.2836A>T (p.Ser946Cys) c.2803A>T (p.Ser935Cys) c.3016A>T (p.Ser1006Cys) | |
X | g.53235172T>C | CA413142861 | IQSEC2 | c.3673A>G (p.Ser1225Gly) c.1453+611A>G c.962+611A>G c.316+1150A>G (n.316+1150A>G) c.514+1150A>G (n.514+1150A>G) n.494A>G c.3464A>G (p.Ter1155Trp) c.3514A>G (p.Ser1172Gly) c.3484A>G (p.Ser1162Gly) c.2849A>G (p.Ter950Trp) c.3610A>G (p.Ser1204Gly) c.2899A>G (p.Ser967Gly) c.3597+611A>G (n.3597+611A>G) c.3547+1150A>G (n.3547+1150A>G) c.3560A>G (p.Ter1187Trp) c.2836A>G (p.Ser946Gly) c.2803A>G (p.Ser935Gly) c.3016A>G (p.Ser1006Gly) | |
X | g.53235172T>G | CA413142862 | IQSEC2 | c.3673A>C (p.Ser1225Arg) c.1453+611A>C c.962+611A>C c.316+1150A>C (n.316+1150A>C) c.514+1150A>C (n.514+1150A>C) n.494A>C c.3464A>C (p.Ter1155Ser) c.3514A>C (p.Ser1172Arg) c.3484A>C (p.Ser1162Arg) c.2849A>C (p.Ter950Ser) c.3610A>C (p.Ser1204Arg) c.2899A>C (p.Ser967Arg) c.3597+611A>C (n.3597+611A>C) c.3547+1150A>C (n.3547+1150A>C) c.3560A>C (p.Ter1187Ser) c.2836A>C (p.Ser946Arg) c.2803A>C (p.Ser935Arg) c.3016A>C (p.Ser1006Arg) | |
X | g.53235173A>C | CA413142863 | IQSEC2 | c.3672T>G (p.Ile1224Met) c.1453+610T>G c.962+610T>G c.316+1149T>G (n.316+1149T>G) c.514+1149T>G (n.514+1149T>G) n.493T>G c.3463T>G (p.Ter1155Glu) c.3513T>G (p.Ile1171Met) c.3483T>G (p.Ile1161Met) c.2848T>G (p.Ter950Glu) c.3609T>G (p.Ile1203Met) c.2898T>G (p.Ile966Met) c.3597+610T>G (n.3597+610T>G) c.3547+1149T>G (n.3547+1149T>G) c.3559T>G (p.Ter1187Glu) c.2835T>G (p.Ile945Met) c.2802T>G (p.Ile934Met) c.3015T>G (p.Ile1005Met) | |
X | g.53235173A>G | CA413142866 | IQSEC2 | c.3672T>C (p.Ile1224=) c.1453+610T>C c.962+610T>C c.316+1149T>C (n.316+1149T>C) c.514+1149T>C (n.514+1149T>C) n.493T>C c.3463T>C (p.Ter1155Gln) c.3513T>C (p.Ile1171=) c.3483T>C (p.Ile1161=) c.2848T>C (p.Ter950Gln) c.3609T>C (p.Ile1203=) c.2898T>C (p.Ile966=) c.3597+610T>C (n.3597+610T>C) c.3547+1149T>C (n.3547+1149T>C) c.3559T>C (p.Ter1187Gln) c.2835T>C (p.Ile945=) c.2802T>C (p.Ile934=) c.3015T>C (p.Ile1005=) | |
X | g.53235173A>T | CA413142877 | IQSEC2 | c.3672T>A (p.Ile1224=) c.1453+610T>A c.962+610T>A c.316+1149T>A (n.316+1149T>A) c.514+1149T>A (n.514+1149T>A) n.493T>A c.3463T>A (p.Ter1155Lys) c.3513T>A (p.Ile1171=) c.3483T>A (p.Ile1161=) c.2848T>A (p.Ter950Lys) c.3609T>A (p.Ile1203=) c.2898T>A (p.Ile966=) c.3597+610T>A (n.3597+610T>A) c.3547+1149T>A (n.3547+1149T>A) c.3559T>A (p.Ter1187Lys) c.2835T>A (p.Ile945=) c.2802T>A (p.Ile934=) c.3015T>A (p.Ile1005=) | |
X | g.53235174_53235181dup | CA2573332596 | IQSEC2 | c.3665_3672dup (p.Ser1225LeufsTer?) c.1453+603_1453+610dup c.962+603_962+610dup c.316+1142_316+1149dup (n.316+1142_316+1149dup) c.514+1142_514+1149dup (n.514+1142_514+1149dup) n.486_493dup c.3456_3463dup (p.Ter1155SerextTer?) c.3506_3513dup (p.Ser1172LeufsTer?) c.3476_3483dup (p.Ser1162LeufsTer?) c.2841_2848dup (p.Ter950SerextTer?) c.3602_3609dup (p.Ser1204LeufsTer?) c.2891_2898dup (p.Ser967LeufsTer?) c.3597+603_3597+610dup (n.3597+603_3597+610dup) c.3547+1142_3547+1149dup (n.3547+1142_3547+1149dup) c.3552_3559dup (p.Ter1187SerextTer?) c.2828_2835dup (p.Ser946LeufsTer?) c.2795_2802dup (p.Ser935LeufsTer?) c.3008_3015dup (p.Ser1006LeufsTer?) | |
X | g.53235174A>C | CA413142882 | IQSEC2 | c.3671T>G (p.Ile1224Ser) c.1453+609T>G c.962+609T>G c.316+1148T>G (n.316+1148T>G) c.514+1148T>G (n.514+1148T>G) n.492T>G c.3462T>G (p.Tyr1154Ter) c.3512T>G (p.Ile1171Ser) c.3482T>G (p.Ile1161Ser) c.2847T>G (p.Tyr949Ter) c.3608T>G (p.Ile1203Ser) c.2897T>G (p.Ile966Ser) c.3597+609T>G (n.3597+609T>G) c.3547+1148T>G (n.3547+1148T>G) c.3558T>G (p.Tyr1186Ter) c.2834T>G (p.Ile945Ser) c.2801T>G (p.Ile934Ser) c.3014T>G (p.Ile1005Ser) | |
X | g.53235174A>G | CA413142886 | IQSEC2 | c.3671T>C (p.Ile1224Thr) c.1453+609T>C c.962+609T>C c.316+1148T>C (n.316+1148T>C) c.514+1148T>C (n.514+1148T>C) n.492T>C c.3462T>C (p.Tyr1154=) c.3512T>C (p.Ile1171Thr) c.3482T>C (p.Ile1161Thr) c.2847T>C (p.Tyr949=) c.3608T>C (p.Ile1203Thr) c.2897T>C (p.Ile966Thr) c.3597+609T>C (n.3597+609T>C) c.3547+1148T>C (n.3547+1148T>C) c.3558T>C (p.Tyr1186=) c.2834T>C (p.Ile945Thr) c.2801T>C (p.Ile934Thr) c.3014T>C (p.Ile1005Thr) | |
X | g.53235174A>T | CA413142891 | IQSEC2 | c.3671T>A (p.Ile1224Asn) c.1453+609T>A c.962+609T>A c.316+1148T>A (n.316+1148T>A) c.514+1148T>A (n.514+1148T>A) n.492T>A c.3462T>A (p.Tyr1154Ter) c.3512T>A (p.Ile1171Asn) c.3482T>A (p.Ile1161Asn) c.2847T>A (p.Tyr949Ter) c.3608T>A (p.Ile1203Asn) c.2897T>A (p.Ile966Asn) c.3597+609T>A (n.3597+609T>A) c.3547+1148T>A (n.3547+1148T>A) c.3558T>A (p.Tyr1186Ter) c.2834T>A (p.Ile945Asn) c.2801T>A (p.Ile934Asn) c.3014T>A (p.Ile1005Asn) | |
X | g.53235175T>A | CA413142916 | IQSEC2 | c.3670A>T (p.Ile1224Phe) c.1453+608A>T c.962+608A>T c.316+1147A>T (n.316+1147A>T) c.514+1147A>T (n.514+1147A>T) n.491A>T c.3461A>T (p.Tyr1154Phe) c.3511A>T (p.Ile1171Phe) c.3481A>T (p.Ile1161Phe) c.2846A>T (p.Tyr949Phe) c.3607A>T (p.Ile1203Phe) c.2896A>T (p.Ile966Phe) c.3597+608A>T (n.3597+608A>T) c.3547+1147A>T (n.3547+1147A>T) c.3557A>T (p.Tyr1186Phe) c.2833A>T (p.Ile945Phe) c.2800A>T (p.Ile934Phe) c.3013A>T (p.Ile1005Phe) | |
X | g.53235175T>C | CA413142911 | IQSEC2 | c.3670A>G (p.Ile1224Val) c.1453+608A>G c.962+608A>G c.316+1147A>G (n.316+1147A>G) c.514+1147A>G (n.514+1147A>G) n.491A>G c.3461A>G (p.Tyr1154Cys) c.3511A>G (p.Ile1171Val) c.3481A>G (p.Ile1161Val) c.2846A>G (p.Tyr949Cys) c.3607A>G (p.Ile1203Val) c.2896A>G (p.Ile966Val) c.3597+608A>G (n.3597+608A>G) c.3547+1147A>G (n.3547+1147A>G) c.3557A>G (p.Tyr1186Cys) c.2833A>G (p.Ile945Val) c.2800A>G (p.Ile934Val) c.3013A>G (p.Ile1005Val) | gnomAD v4 |
X | g.53235175T>G | CA413142897 | IQSEC2 | c.3670A>C (p.Ile1224Leu) c.1453+608A>C c.962+608A>C c.316+1147A>C (n.316+1147A>C) c.514+1147A>C (n.514+1147A>C) n.491A>C c.3461A>C (p.Tyr1154Ser) c.3511A>C (p.Ile1171Leu) c.3481A>C (p.Ile1161Leu) c.2846A>C (p.Tyr949Ser) c.3607A>C (p.Ile1203Leu) c.2896A>C (p.Ile966Leu) c.3597+608A>C (n.3597+608A>C) c.3547+1147A>C (n.3547+1147A>C) c.3557A>C (p.Tyr1186Ser) c.2833A>C (p.Ile945Leu) c.2800A>C (p.Ile934Leu) c.3013A>C (p.Ile1005Leu) | |
X | g.53235175_53235178delinsTAAC | CA2429770717 | IQSEC2 | c.3667_3670delinsGTTA (p.Val1223=) c.1453+605_1453+608delinsGTTA c.962+605_962+608delinsGTTA c.316+1144_316+1147delinsGTTA (n.316+1144_316+1147delinsGTTA) c.514+1144_514+1147delinsGTTA (n.514+1144_514+1147delinsGTTA) n.488_491delinsGTTA c.3458_3461delinsGTTA (p.Cys1153=) c.3508_3511delinsGTTA (p.Val1170=) c.3478_3481delinsGTTA (p.Val1160=) c.2843_2846delinsGTTA (p.Cys948=) c.3604_3607delinsGTTA (p.Val1202=) c.2893_2896delinsGTTA (p.Val965=) c.3597+605_3597+608delinsGTTA (n.3597+605_3597+608delinsGTTA) c.3547+1144_3547+1147delinsGTTA (n.3547+1144_3547+1147delinsGTTA) c.3554_3557delinsGTTA (p.Cys1185=) c.2830_2833delinsGTTA (p.Val944=) c.2797_2800delinsGTTA (p.Val933=) c.3010_3013delinsGTTA (p.Val1004=) | |
X | g.53235176A>C | CA413142921 | IQSEC2 | c.3669T>G (p.Val1223=) c.1453+607T>G c.962+607T>G c.316+1146T>G (n.316+1146T>G) c.514+1146T>G (n.514+1146T>G) n.490T>G c.3460T>G (p.Tyr1154Asp) c.3510T>G (p.Val1170=) c.3480T>G (p.Val1160=) c.2845T>G (p.Tyr949Asp) c.3606T>G (p.Val1202=) c.2895T>G (p.Val965=) c.3597+607T>G (n.3597+607T>G) c.3547+1146T>G (n.3547+1146T>G) c.3556T>G (p.Tyr1186Asp) c.2832T>G (p.Val944=) c.2799T>G (p.Val933=) c.3012T>G (p.Val1004=) | |
X | g.53235176A>G | CA413142924 | IQSEC2 | c.3669T>C (p.Val1223=) c.1453+607T>C c.962+607T>C c.316+1146T>C (n.316+1146T>C) c.514+1146T>C (n.514+1146T>C) n.490T>C c.3460T>C (p.Tyr1154His) c.3510T>C (p.Val1170=) c.3480T>C (p.Val1160=) c.2845T>C (p.Tyr949His) c.3606T>C (p.Val1202=) c.2895T>C (p.Val965=) c.3597+607T>C (n.3597+607T>C) c.3547+1146T>C (n.3547+1146T>C) c.3556T>C (p.Tyr1186His) c.2832T>C (p.Val944=) c.2799T>C (p.Val933=) c.3012T>C (p.Val1004=) | |
X | g.53235176A>T | CA413142928 | IQSEC2 | c.3669T>A (p.Val1223=) c.1453+607T>A c.962+607T>A c.316+1146T>A (n.316+1146T>A) c.514+1146T>A (n.514+1146T>A) n.490T>A c.3460T>A (p.Tyr1154Asn) c.3510T>A (p.Val1170=) c.3480T>A (p.Val1160=) c.2845T>A (p.Tyr949Asn) c.3606T>A (p.Val1202=) c.2895T>A (p.Val965=) c.3597+607T>A (n.3597+607T>A) c.3547+1146T>A (n.3547+1146T>A) c.3556T>A (p.Tyr1186Asn) c.2832T>A (p.Val944=) c.2799T>A (p.Val933=) c.3012T>A (p.Val1004=) | |
X | g.53235177_53235179del | CA641547551 | IQSEC2 | c.3667_3669del (p.Val1223del) c.1453+605_1453+607del c.962+605_962+607del c.316+1144_316+1146del (n.316+1144_316+1146del) c.514+1144_514+1146del (n.514+1144_514+1146del) n.488_490del c.3458_3460del (p.Cys1153del) c.3508_3510del (p.Val1170del) c.3478_3480del (p.Val1160del) c.2843_2845del (p.Cys948del) c.3604_3606del (p.Val1202del) c.2893_2895del (p.Val965del) c.3597+605_3597+607del (n.3597+605_3597+607del) c.3547+1144_3547+1146del (n.3547+1144_3547+1146del) c.3554_3556del (p.Cys1185del) c.2830_2832del (p.Val944del) c.2797_2799del (p.Val933del) c.3010_3012del (p.Val1004del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235177A>C | CA413142932 | IQSEC2 | c.3668T>G (p.Val1223Gly) c.1453+606T>G c.962+606T>G c.316+1145T>G (n.316+1145T>G) c.514+1145T>G (n.514+1145T>G) n.489T>G c.3459T>G (p.Cys1153Trp) c.3509T>G (p.Val1170Gly) c.3479T>G (p.Val1160Gly) c.2844T>G (p.Cys948Trp) c.3605T>G (p.Val1202Gly) c.2894T>G (p.Val965Gly) c.3597+606T>G (n.3597+606T>G) c.3547+1145T>G (n.3547+1145T>G) c.3555T>G (p.Cys1185Trp) c.2831T>G (p.Val944Gly) c.2798T>G (p.Val933Gly) c.3011T>G (p.Val1004Gly) | |
X | g.53235177A>G | CA413142933 | IQSEC2 | c.3668T>C (p.Val1223Ala) c.1453+606T>C c.962+606T>C c.316+1145T>C (n.316+1145T>C) c.514+1145T>C (n.514+1145T>C) n.489T>C c.3459T>C (p.Cys1153=) c.3509T>C (p.Val1170Ala) c.3479T>C (p.Val1160Ala) c.2844T>C (p.Cys948=) c.3605T>C (p.Val1202Ala) c.2894T>C (p.Val965Ala) c.3597+606T>C (n.3597+606T>C) c.3547+1145T>C (n.3547+1145T>C) c.3555T>C (p.Cys1185=) c.2831T>C (p.Val944Ala) c.2798T>C (p.Val933Ala) c.3011T>C (p.Val1004Ala) | |
X | g.53235177A>T | CA413142934 | IQSEC2 | c.3668T>A (p.Val1223Asp) c.1453+606T>A c.962+606T>A c.316+1145T>A (n.316+1145T>A) c.514+1145T>A (n.514+1145T>A) n.489T>A c.3459T>A (p.Cys1153Ter) c.3509T>A (p.Val1170Asp) c.3479T>A (p.Val1160Asp) c.2844T>A (p.Cys948Ter) c.3605T>A (p.Val1202Asp) c.2894T>A (p.Val965Asp) c.3597+606T>A (n.3597+606T>A) c.3547+1145T>A (n.3547+1145T>A) c.3555T>A (p.Cys1185Ter) c.2831T>A (p.Val944Asp) c.2798T>A (p.Val933Asp) c.3011T>A (p.Val1004Asp) | |
X | g.53235178C>A | CA413142937 | IQSEC2 | c.3667G>T (p.Val1223Phe) c.1453+605G>T c.962+605G>T c.316+1144G>T (n.316+1144G>T) c.514+1144G>T (n.514+1144G>T) n.488G>T c.3458G>T (p.Cys1153Phe) c.3508G>T (p.Val1170Phe) c.3478G>T (p.Val1160Phe) c.2843G>T (p.Cys948Phe) c.3604G>T (p.Val1202Phe) c.2893G>T (p.Val965Phe) c.3597+605G>T (n.3597+605G>T) c.3547+1144G>T (n.3547+1144G>T) c.3554G>T (p.Cys1185Phe) c.2830G>T (p.Val944Phe) c.2797G>T (p.Val933Phe) c.3010G>T (p.Val1004Phe) | gnomAD v4 |
X | g.53235178C>G | CA413142940 | IQSEC2 | c.3667G>C (p.Val1223Leu) c.1453+605G>C c.962+605G>C c.316+1144G>C (n.316+1144G>C) c.514+1144G>C (n.514+1144G>C) n.488G>C c.3458G>C (p.Cys1153Ser) c.3508G>C (p.Val1170Leu) c.3478G>C (p.Val1160Leu) c.2843G>C (p.Cys948Ser) c.3604G>C (p.Val1202Leu) c.2893G>C (p.Val965Leu) c.3597+605G>C (n.3597+605G>C) c.3547+1144G>C (n.3547+1144G>C) c.3554G>C (p.Cys1185Ser) c.2830G>C (p.Val944Leu) c.2797G>C (p.Val933Leu) c.3010G>C (p.Val1004Leu) | |
X | g.53235178C>T | CA413142944 | IQSEC2 | c.3667G>A (p.Val1223Ile) c.1453+605G>A c.962+605G>A c.316+1144G>A (n.316+1144G>A) c.514+1144G>A (n.514+1144G>A) n.488G>A c.3458G>A (p.Cys1153Tyr) c.3508G>A (p.Val1170Ile) c.3478G>A (p.Val1160Ile) c.2843G>A (p.Cys948Tyr) c.3604G>A (p.Val1202Ile) c.2893G>A (p.Val965Ile) c.3597+605G>A (n.3597+605G>A) c.3547+1144G>A (n.3547+1144G>A) c.3554G>A (p.Cys1185Tyr) c.2830G>A (p.Val944Ile) c.2797G>A (p.Val933Ile) c.3010G>A (p.Val1004Ile) | |
X | g.53235179A>C | CA413142949 | IQSEC2 | c.3666T>G (p.Ser1222=) c.1453+604T>G c.962+604T>G c.316+1143T>G (n.316+1143T>G) c.514+1143T>G (n.514+1143T>G) n.487T>G c.3457T>G (p.Cys1153Gly) c.3507T>G (p.Ser1169=) c.3477T>G (p.Ser1159=) c.2842T>G (p.Cys948Gly) c.3603T>G (p.Ser1201=) c.2892T>G (p.Ser964=) c.3597+604T>G (n.3597+604T>G) c.3547+1143T>G (n.3547+1143T>G) c.3553T>G (p.Cys1185Gly) c.2829T>G (p.Ser943=) c.2796T>G (p.Ser932=) c.3009T>G (p.Ser1003=) | |
X | g.53235179A>G | CA413142952 | IQSEC2 | c.3666T>C (p.Ser1222=) c.1453+604T>C c.962+604T>C c.316+1143T>C (n.316+1143T>C) c.514+1143T>C (n.514+1143T>C) n.487T>C c.3457T>C (p.Cys1153Arg) c.3507T>C (p.Ser1169=) c.3477T>C (p.Ser1159=) c.2842T>C (p.Cys948Arg) c.3603T>C (p.Ser1201=) c.2892T>C (p.Ser964=) c.3597+604T>C (n.3597+604T>C) c.3547+1143T>C (n.3547+1143T>C) c.3553T>C (p.Cys1185Arg) c.2829T>C (p.Ser943=) c.2796T>C (p.Ser932=) c.3009T>C (p.Ser1003=) | |
X | g.53235179A>T | CA413142957 | IQSEC2 | c.3666T>A (p.Ser1222=) c.1453+604T>A c.962+604T>A c.316+1143T>A (n.316+1143T>A) c.514+1143T>A (n.514+1143T>A) n.487T>A c.3457T>A (p.Cys1153Ser) c.3507T>A (p.Ser1169=) c.3477T>A (p.Ser1159=) c.2842T>A (p.Cys948Ser) c.3603T>A (p.Ser1201=) c.2892T>A (p.Ser964=) c.3597+604T>A (n.3597+604T>A) c.3547+1143T>A (n.3547+1143T>A) c.3553T>A (p.Cys1185Ser) c.2829T>A (p.Ser943=) c.2796T>A (p.Ser932=) c.3009T>A (p.Ser1003=) | |
X | g.53235180G>A | CA413142973 | IQSEC2 | c.3665C>T (p.Ser1222Phe) c.1453+603C>T c.962+603C>T c.316+1142C>T (n.316+1142C>T) c.514+1142C>T (n.514+1142C>T) n.486C>T c.3456C>T (p.Val1152=) c.3506C>T (p.Ser1169Phe) c.3476C>T (p.Ser1159Phe) c.2841C>T (p.Val947=) c.3602C>T (p.Ser1201Phe) c.2891C>T (p.Ser964Phe) c.3597+603C>T (n.3597+603C>T) c.3547+1142C>T (n.3547+1142C>T) c.3552C>T (p.Val1184=) c.2828C>T (p.Ser943Phe) c.2795C>T (p.Ser932Phe) c.3008C>T (p.Ser1003Phe) | |
X | g.53235180G>C | CA413142965 | IQSEC2 | c.3665C>G (p.Ser1222Cys) c.1453+603C>G c.962+603C>G c.316+1142C>G (n.316+1142C>G) c.514+1142C>G (n.514+1142C>G) n.486C>G c.3456C>G (p.Val1152=) c.3506C>G (p.Ser1169Cys) c.3476C>G (p.Ser1159Cys) c.2841C>G (p.Val947=) c.3602C>G (p.Ser1201Cys) c.2891C>G (p.Ser964Cys) c.3597+603C>G (n.3597+603C>G) c.3547+1142C>G (n.3547+1142C>G) c.3552C>G (p.Val1184=) c.2828C>G (p.Ser943Cys) c.2795C>G (p.Ser932Cys) c.3008C>G (p.Ser1003Cys) | |
X | g.53235180G>T | CA413142963 | IQSEC2 | c.3665C>A (p.Ser1222Tyr) c.1453+603C>A c.962+603C>A c.316+1142C>A (n.316+1142C>A) c.514+1142C>A (n.514+1142C>A) n.486C>A c.3456C>A (p.Val1152=) c.3506C>A (p.Ser1169Tyr) c.3476C>A (p.Ser1159Tyr) c.2841C>A (p.Val947=) c.3602C>A (p.Ser1201Tyr) c.2891C>A (p.Ser964Tyr) c.3597+603C>A (n.3597+603C>A) c.3547+1142C>A (n.3547+1142C>A) c.3552C>A (p.Val1184=) c.2828C>A (p.Ser943Tyr) c.2795C>A (p.Ser932Tyr) c.3008C>A (p.Ser1003Tyr) | gnomAD v4 |
X | g.53235181A>C | CA413142982 | IQSEC2 | c.3664T>G (p.Ser1222Ala) c.1453+602T>G c.962+602T>G c.316+1141T>G (n.316+1141T>G) c.514+1141T>G (n.514+1141T>G) n.485T>G c.3455T>G (p.Val1152Gly) c.3505T>G (p.Ser1169Ala) c.3475T>G (p.Ser1159Ala) c.2840T>G (p.Val947Gly) c.3601T>G (p.Ser1201Ala) c.2890T>G (p.Ser964Ala) c.3597+602T>G (n.3597+602T>G) c.3547+1141T>G (n.3547+1141T>G) c.3551T>G (p.Val1184Gly) c.2827T>G (p.Ser943Ala) c.2794T>G (p.Ser932Ala) c.3007T>G (p.Ser1003Ala) | |
X | g.53235181A>G | CA413142988 | IQSEC2 | c.3664T>C (p.Ser1222Pro) c.1453+602T>C c.962+602T>C c.316+1141T>C (n.316+1141T>C) c.514+1141T>C (n.514+1141T>C) n.485T>C c.3455T>C (p.Val1152Ala) c.3505T>C (p.Ser1169Pro) c.3475T>C (p.Ser1159Pro) c.2840T>C (p.Val947Ala) c.3601T>C (p.Ser1201Pro) c.2890T>C (p.Ser964Pro) c.3597+602T>C (n.3597+602T>C) c.3547+1141T>C (n.3547+1141T>C) c.3551T>C (p.Val1184Ala) c.2827T>C (p.Ser943Pro) c.2794T>C (p.Ser932Pro) c.3007T>C (p.Ser1003Pro) | |
X | g.53235181A>T | CA413142985 | IQSEC2 | c.3664T>A (p.Ser1222Thr) c.1453+602T>A c.962+602T>A c.316+1141T>A (n.316+1141T>A) c.514+1141T>A (n.514+1141T>A) n.485T>A c.3455T>A (p.Val1152Asp) c.3505T>A (p.Ser1169Thr) c.3475T>A (p.Ser1159Thr) c.2840T>A (p.Val947Asp) c.3601T>A (p.Ser1201Thr) c.2890T>A (p.Ser964Thr) c.3597+602T>A (n.3597+602T>A) c.3547+1141T>A (n.3547+1141T>A) c.3551T>A (p.Val1184Asp) c.2827T>A (p.Ser943Thr) c.2794T>A (p.Ser932Thr) c.3007T>A (p.Ser1003Thr) | |
X | g.53235182C>A | CA413142994 | IQSEC2 | c.3663G>T (p.Gly1221=) c.1453+601G>T c.962+601G>T c.316+1140G>T (n.316+1140G>T) c.514+1140G>T (n.514+1140G>T) n.484G>T c.3454G>T (p.Val1152Phe) c.3504G>T (p.Gly1168=) c.3474G>T (p.Gly1158=) c.2839G>T (p.Val947Phe) c.3600G>T (p.Gly1200=) c.2889G>T (p.Gly963=) c.3597+601G>T (n.3597+601G>T) c.3547+1140G>T (n.3547+1140G>T) c.3550G>T (p.Val1184Phe) c.2826G>T (p.Gly942=) c.2793G>T (p.Gly931=) c.3006G>T (p.Gly1002=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235182C= | CA2429770718 | IQSEC2 | c.3663G= (p.Gly1221=) c.1453+601G= c.962+601G= c.316+1140G= (n.316+1140G=) c.514+1140G= (n.514+1140G=) n.484G= c.3454G= (p.Val1152=) c.3504G= (p.Gly1168=) c.3474G= (p.Gly1158=) c.2839G= (p.Val947=) c.3600G= (p.Gly1200=) c.2889G= (p.Gly963=) c.3597+601G= (n.3597+601G=) c.3547+1140G= (n.3547+1140G=) c.3550G= (p.Val1184=) c.2826G= (p.Gly942=) c.2793G= (p.Gly931=) c.3006G= (p.Gly1002=) | |
X | g.53235182C>G | CA413142997 | IQSEC2 | c.3663G>C (p.Gly1221=) c.1453+601G>C c.962+601G>C c.316+1140G>C (n.316+1140G>C) c.514+1140G>C (n.514+1140G>C) n.484G>C c.3454G>C (p.Val1152Leu) c.3504G>C (p.Gly1168=) c.3474G>C (p.Gly1158=) c.2839G>C (p.Val947Leu) c.3600G>C (p.Gly1200=) c.2889G>C (p.Gly963=) c.3597+601G>C (n.3597+601G>C) c.3547+1140G>C (n.3547+1140G>C) c.3550G>C (p.Val1184Leu) c.2826G>C (p.Gly942=) c.2793G>C (p.Gly931=) c.3006G>C (p.Gly1002=) | |
X | g.53235182C>T | CA413143010 | IQSEC2 | c.3663G>A (p.Gly1221=) c.1453+601G>A c.962+601G>A c.316+1140G>A (n.316+1140G>A) c.514+1140G>A (n.514+1140G>A) n.484G>A c.3454G>A (p.Val1152Ile) c.3504G>A (p.Gly1168=) c.3474G>A (p.Gly1158=) c.2839G>A (p.Val947Ile) c.3600G>A (p.Gly1200=) c.2889G>A (p.Gly963=) c.3597+601G>A (n.3597+601G>A) c.3547+1140G>A (n.3547+1140G>A) c.3550G>A (p.Val1184Ile) c.2826G>A (p.Gly942=) c.2793G>A (p.Gly931=) c.3006G>A (p.Gly1002=) | |
X | g.53235183C>A | CA413143015 | IQSEC2 | c.3662G>T (p.Gly1221Val) c.1453+600G>T c.962+600G>T c.316+1139G>T (n.316+1139G>T) c.514+1139G>T (n.514+1139G>T) n.483G>T c.3453G>T (p.Gly1151=) c.3503G>T (p.Gly1168Val) c.3473G>T (p.Gly1158Val) c.2838G>T (p.Gly946=) c.3599G>T (p.Gly1200Val) c.2888G>T (p.Gly963Val) c.3597+600G>T (n.3597+600G>T) c.3547+1139G>T (n.3547+1139G>T) c.3549G>T (p.Gly1183=) c.2825G>T (p.Gly942Val) c.2792G>T (p.Gly931Val) c.3005G>T (p.Gly1002Val) | gnomAD v4 |
X | g.53235183C>G | CA413143017 | IQSEC2 | c.3662G>C (p.Gly1221Ala) c.1453+600G>C c.962+600G>C c.316+1139G>C (n.316+1139G>C) c.514+1139G>C (n.514+1139G>C) n.483G>C c.3453G>C (p.Gly1151=) c.3503G>C (p.Gly1168Ala) c.3473G>C (p.Gly1158Ala) c.2838G>C (p.Gly946=) c.3599G>C (p.Gly1200Ala) c.2888G>C (p.Gly963Ala) c.3597+600G>C (n.3597+600G>C) c.3547+1139G>C (n.3547+1139G>C) c.3549G>C (p.Gly1183=) c.2825G>C (p.Gly942Ala) c.2792G>C (p.Gly931Ala) c.3005G>C (p.Gly1002Ala) | |
X | g.53235183C>T | CA413143020 | IQSEC2 | c.3662G>A (p.Gly1221Glu) c.1453+600G>A c.962+600G>A c.316+1139G>A (n.316+1139G>A) c.514+1139G>A (n.514+1139G>A) n.483G>A c.3453G>A (p.Gly1151=) c.3503G>A (p.Gly1168Glu) c.3473G>A (p.Gly1158Glu) c.2838G>A (p.Gly946=) c.3599G>A (p.Gly1200Glu) c.2888G>A (p.Gly963Glu) c.3597+600G>A (n.3597+600G>A) c.3547+1139G>A (n.3547+1139G>A) c.3549G>A (p.Gly1183=) c.2825G>A (p.Gly942Glu) c.2792G>A (p.Gly931Glu) c.3005G>A (p.Gly1002Glu) | |
X | g.53235184C>A | CA413143026 | IQSEC2 | c.3661G>T (p.Gly1221Trp) c.1453+599G>T c.962+599G>T c.316+1138G>T (n.316+1138G>T) c.514+1138G>T (n.514+1138G>T) n.482G>T c.3452G>T (p.Gly1151Val) c.3502G>T (p.Gly1168Trp) c.3472G>T (p.Gly1158Trp) c.2837G>T (p.Gly946Val) c.3598G>T (p.Gly1200Trp) c.2887G>T (p.Gly963Trp) c.3597+599G>T (n.3597+599G>T) c.3547+1138G>T (n.3547+1138G>T) c.3548G>T (p.Gly1183Val) c.2824G>T (p.Gly942Trp) c.2791G>T (p.Gly931Trp) c.3004G>T (p.Gly1002Trp) | |
X | g.53235184C>G | CA413143031 | IQSEC2 | c.3661G>C (p.Gly1221Arg) c.1453+599G>C c.962+599G>C c.316+1138G>C (n.316+1138G>C) c.514+1138G>C (n.514+1138G>C) n.482G>C c.3452G>C (p.Gly1151Ala) c.3502G>C (p.Gly1168Arg) c.3472G>C (p.Gly1158Arg) c.2837G>C (p.Gly946Ala) c.3598G>C (p.Gly1200Arg) c.2887G>C (p.Gly963Arg) c.3597+599G>C (n.3597+599G>C) c.3547+1138G>C (n.3547+1138G>C) c.3548G>C (p.Gly1183Ala) c.2824G>C (p.Gly942Arg) c.2791G>C (p.Gly931Arg) c.3004G>C (p.Gly1002Arg) | |
X | g.53235184C>T | CA413143033 | IQSEC2 | c.3661G>A (p.Gly1221Arg) c.1453+599G>A c.962+599G>A c.316+1138G>A (n.316+1138G>A) c.514+1138G>A (n.514+1138G>A) n.482G>A c.3452G>A (p.Gly1151Glu) c.3502G>A (p.Gly1168Arg) c.3472G>A (p.Gly1158Arg) c.2837G>A (p.Gly946Glu) c.3598G>A (p.Gly1200Arg) c.2887G>A (p.Gly963Arg) c.3597+599G>A (n.3597+599G>A) c.3547+1138G>A (n.3547+1138G>A) c.3548G>A (p.Gly1183Glu) c.2824G>A (p.Gly942Arg) c.2791G>A (p.Gly931Arg) c.3004G>A (p.Gly1002Arg) | |
X | g.53235185C>A | CA413143042 | IQSEC2 | c.3661-1G>T (n.3661-1G>T) c.1453+598G>T c.962+598G>T c.316+1137G>T (n.316+1137G>T) c.514+1137G>T (n.514+1137G>T) n.482-1G>T c.3452-1G>T (n.3452-1G>T) c.3502-1G>T (n.3502-1G>T) c.3472-1G>T (n.3472-1G>T) c.2837-1G>T (n.2837-1G>T) c.3598-1G>T (n.3598-1G>T) c.2887-1G>T (n.2887-1G>T) c.3597+598G>T (n.3597+598G>T) c.3547+1137G>T (n.3547+1137G>T) c.3548-1G>T (n.3548-1G>T) c.2824-1G>T (n.2824-1G>T) c.2791-1G>T (n.2791-1G>T) c.3004-1G>T (n.3004-1G>T) | gnomAD v4 |
X | g.53235185C>G | CA413143048 | IQSEC2 | c.3661-1G>C (n.3661-1G>C) c.1453+598G>C c.962+598G>C c.316+1137G>C (n.316+1137G>C) c.514+1137G>C (n.514+1137G>C) n.482-1G>C c.3452-1G>C (n.3452-1G>C) c.3502-1G>C (n.3502-1G>C) c.3472-1G>C (n.3472-1G>C) c.2837-1G>C (n.2837-1G>C) c.3598-1G>C (n.3598-1G>C) c.2887-1G>C (n.2887-1G>C) c.3597+598G>C (n.3597+598G>C) c.3547+1137G>C (n.3547+1137G>C) c.3548-1G>C (n.3548-1G>C) c.2824-1G>C (n.2824-1G>C) c.2791-1G>C (n.2791-1G>C) c.3004-1G>C (n.3004-1G>C) | |
X | g.53235185C>T | CA413143051 | IQSEC2 | c.3661-1G>A (n.3661-1G>A) c.1453+598G>A c.962+598G>A c.316+1137G>A (n.316+1137G>A) c.514+1137G>A (n.514+1137G>A) n.482-1G>A c.3452-1G>A (n.3452-1G>A) c.3502-1G>A (n.3502-1G>A) c.3472-1G>A (n.3472-1G>A) c.2837-1G>A (n.2837-1G>A) c.3598-1G>A (n.3598-1G>A) c.2887-1G>A (n.2887-1G>A) c.3597+598G>A (n.3597+598G>A) c.3547+1137G>A (n.3547+1137G>A) c.3548-1G>A (n.3548-1G>A) c.2824-1G>A (n.2824-1G>A) c.2791-1G>A (n.2791-1G>A) c.3004-1G>A (n.3004-1G>A) | |
X | g.53235185_53235186delinsCT | CA2429770719 | IQSEC2 | c.3661-2_3661-1delinsAG (n.3661-2_3661-1delinsAG) c.1453+597_1453+598delinsAG c.962+597_962+598delinsAG c.316+1136_316+1137delinsAG (n.316+1136_316+1137delinsAG) c.514+1136_514+1137delinsAG (n.514+1136_514+1137delinsAG) n.482-2_482-1delinsAG c.3452-2_3452-1delinsAG (n.3452-2_3452-1delinsAG) c.3502-2_3502-1delinsAG (n.3502-2_3502-1delinsAG) c.3472-2_3472-1delinsAG (n.3472-2_3472-1delinsAG) c.2837-2_2837-1delinsAG (n.2837-2_2837-1delinsAG) c.3598-2_3598-1delinsAG (n.3598-2_3598-1delinsAG) c.2887-2_2887-1delinsAG (n.2887-2_2887-1delinsAG) c.3597+597_3597+598delinsAG (n.3597+597_3597+598delinsAG) c.3547+1136_3547+1137delinsAG (n.3547+1136_3547+1137delinsAG) c.3548-2_3548-1delinsAG (n.3548-2_3548-1delinsAG) c.2824-2_2824-1delinsAG (n.2824-2_2824-1delinsAG) c.2791-2_2791-1delinsAG (n.2791-2_2791-1delinsAG) c.3004-2_3004-1delinsAG (n.3004-2_3004-1delinsAG) | |
X | g.53235186del | CA645369755 | IQSEC2 | c.3661-2del (n.3661-2del) c.1453+597del c.962+597del c.316+1136del (n.316+1136del) c.514+1136del (n.514+1136del) n.482-2del c.3452-2del (n.3452-2del) c.3502-2del (n.3502-2del) c.3472-2del (n.3472-2del) c.2837-2del (n.2837-2del) c.3598-2del (n.3598-2del) c.2887-2del (n.2887-2del) c.3597+597del (n.3597+597del) c.3547+1136del (n.3547+1136del) c.3548-2del (n.3548-2del) c.2824-2del (n.2824-2del) c.2791-2del (n.2791-2del) c.3004-2del (n.3004-2del) | ClinVar dbSNP |
X | g.53235186T>A | CA413143065 | IQSEC2 | c.3661-2A>T (n.3661-2A>T) c.1453+597A>T c.962+597A>T c.316+1136A>T (n.316+1136A>T) c.514+1136A>T (n.514+1136A>T) n.482-2A>T c.3452-2A>T (n.3452-2A>T) c.3502-2A>T (n.3502-2A>T) c.3472-2A>T (n.3472-2A>T) c.2837-2A>T (n.2837-2A>T) c.3598-2A>T (n.3598-2A>T) c.2887-2A>T (n.2887-2A>T) c.3597+597A>T (n.3597+597A>T) c.3547+1136A>T (n.3547+1136A>T) c.3548-2A>T (n.3548-2A>T) c.2824-2A>T (n.2824-2A>T) c.2791-2A>T (n.2791-2A>T) c.3004-2A>T (n.3004-2A>T) | |
X | g.53235186T>C | CA413143055 | IQSEC2 | c.3661-2A>G (n.3661-2A>G) c.1453+597A>G c.962+597A>G c.316+1136A>G (n.316+1136A>G) c.514+1136A>G (n.514+1136A>G) n.482-2A>G c.3452-2A>G (n.3452-2A>G) c.3502-2A>G (n.3502-2A>G) c.3472-2A>G (n.3472-2A>G) c.2837-2A>G (n.2837-2A>G) c.3598-2A>G (n.3598-2A>G) c.2887-2A>G (n.2887-2A>G) c.3597+597A>G (n.3597+597A>G) c.3547+1136A>G (n.3547+1136A>G) c.3548-2A>G (n.3548-2A>G) c.2824-2A>G (n.2824-2A>G) c.2791-2A>G (n.2791-2A>G) c.3004-2A>G (n.3004-2A>G) | |
X | g.53235186T>G | CA413143062 | IQSEC2 | c.3661-2A>C (n.3661-2A>C) c.1453+597A>C c.962+597A>C c.316+1136A>C (n.316+1136A>C) c.514+1136A>C (n.514+1136A>C) n.482-2A>C c.3452-2A>C (n.3452-2A>C) c.3502-2A>C (n.3502-2A>C) c.3472-2A>C (n.3472-2A>C) c.2837-2A>C (n.2837-2A>C) c.3598-2A>C (n.3598-2A>C) c.2887-2A>C (n.2887-2A>C) c.3597+597A>C (n.3597+597A>C) c.3547+1136A>C (n.3547+1136A>C) c.3548-2A>C (n.3548-2A>C) c.2824-2A>C (n.2824-2A>C) c.2791-2A>C (n.2791-2A>C) c.3004-2A>C (n.3004-2A>C) | |
X | g.53235187G>A | CA10419784 | IQSEC2 | c.3661-3C>T (n.3661-3C>T) c.1453+596C>T c.962+596C>T c.316+1135C>T (n.316+1135C>T) c.514+1135C>T (n.514+1135C>T) n.482-3C>T c.3452-3C>T (n.3452-3C>T) c.3502-3C>T (n.3502-3C>T) c.3472-3C>T (n.3472-3C>T) c.2837-3C>T (n.2837-3C>T) c.3598-3C>T (n.3598-3C>T) c.2887-3C>T (n.2887-3C>T) c.3597+596C>T (n.3597+596C>T) c.3547+1135C>T (n.3547+1135C>T) c.3548-3C>T (n.3548-3C>T) c.2824-3C>T (n.2824-3C>T) c.2791-3C>T (n.2791-3C>T) c.3004-3C>T (n.3004-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53235187G= | CA2429770720 | IQSEC2 | c.3661-3C= (n.3661-3C=) c.1453+596C= c.962+596C= c.316+1135C= (n.316+1135C=) c.514+1135C= (n.514+1135C=) n.482-3C= c.3452-3C= (n.3452-3C=) c.3502-3C= (n.3502-3C=) c.3472-3C= (n.3472-3C=) c.2837-3C= (n.2837-3C=) c.3598-3C= (n.3598-3C=) c.2887-3C= (n.2887-3C=) c.3597+596C= (n.3597+596C=) c.3547+1135C= (n.3547+1135C=) c.3548-3C= (n.3548-3C=) c.2824-3C= (n.2824-3C=) c.2791-3C= (n.2791-3C=) c.3004-3C= (n.3004-3C=) | |
X | g.53235188G>C | CA2693794699 | IQSEC2 | c.3661-4C>G (n.3661-4C>G) c.1453+595C>G c.962+595C>G c.316+1134C>G (n.316+1134C>G) c.514+1134C>G (n.514+1134C>G) n.482-4C>G c.3452-4C>G (n.3452-4C>G) c.3502-4C>G (n.3502-4C>G) c.3472-4C>G (n.3472-4C>G) c.2837-4C>G (n.2837-4C>G) c.3598-4C>G (n.3598-4C>G) c.2887-4C>G (n.2887-4C>G) c.3597+595C>G (n.3597+595C>G) c.3547+1134C>G (n.3547+1134C>G) c.3548-4C>G (n.3548-4C>G) c.2824-4C>G (n.2824-4C>G) c.2791-4C>G (n.2791-4C>G) c.3004-4C>G (n.3004-4C>G) | gnomAD v4 |
X | g.53235190A>C | CA2820950285 | IQSEC2 | c.3661-6T>G (n.3661-6T>G) c.1453+593T>G c.962+593T>G c.316+1132T>G (n.316+1132T>G) c.514+1132T>G (n.514+1132T>G) n.482-6T>G c.3452-6T>G (n.3452-6T>G) c.3502-6T>G (n.3502-6T>G) c.3472-6T>G (n.3472-6T>G) c.2837-6T>G (n.2837-6T>G) c.3598-6T>G (n.3598-6T>G) c.2887-6T>G (n.2887-6T>G) c.3597+593T>G (n.3597+593T>G) c.3547+1132T>G (n.3547+1132T>G) c.3548-6T>G (n.3548-6T>G) c.2824-6T>G (n.2824-6T>G) c.2791-6T>G (n.2791-6T>G) c.3004-6T>G (n.3004-6T>G) | |
X | g.53235190A>G | CA2820950286 | IQSEC2 | c.3661-6T>C (n.3661-6T>C) c.1453+593T>C c.962+593T>C c.316+1132T>C (n.316+1132T>C) c.514+1132T>C (n.514+1132T>C) n.482-6T>C c.3452-6T>C (n.3452-6T>C) c.3502-6T>C (n.3502-6T>C) c.3472-6T>C (n.3472-6T>C) c.2837-6T>C (n.2837-6T>C) c.3598-6T>C (n.3598-6T>C) c.2887-6T>C (n.2887-6T>C) c.3597+593T>C (n.3597+593T>C) c.3547+1132T>C (n.3547+1132T>C) c.3548-6T>C (n.3548-6T>C) c.2824-6T>C (n.2824-6T>C) c.2791-6T>C (n.2791-6T>C) c.3004-6T>C (n.3004-6T>C) | |
X | g.53235192C= | CA2429770721 | IQSEC2 | c.3661-8G= (n.3661-8G=) c.1453+591G= c.962+591G= c.316+1130G= (n.316+1130G=) c.514+1130G= (n.514+1130G=) n.482-8G= c.3452-8G= (n.3452-8G=) c.3502-8G= (n.3502-8G=) c.3472-8G= (n.3472-8G=) c.2837-8G= (n.2837-8G=) c.3598-8G= (n.3598-8G=) c.2887-8G= (n.2887-8G=) c.3597+591G= (n.3597+591G=) c.3547+1130G= (n.3547+1130G=) c.3548-8G= (n.3548-8G=) c.2824-8G= (n.2824-8G=) c.2791-8G= (n.2791-8G=) c.3004-8G= (n.3004-8G=) | |
X | g.53235192C>G | CA2820950289 | IQSEC2 | c.3661-8G>C (n.3661-8G>C) c.1453+591G>C c.962+591G>C c.316+1130G>C (n.316+1130G>C) c.514+1130G>C (n.514+1130G>C) n.482-8G>C c.3452-8G>C (n.3452-8G>C) c.3502-8G>C (n.3502-8G>C) c.3472-8G>C (n.3472-8G>C) c.2837-8G>C (n.2837-8G>C) c.3598-8G>C (n.3598-8G>C) c.2887-8G>C (n.2887-8G>C) c.3597+591G>C (n.3597+591G>C) c.3547+1130G>C (n.3547+1130G>C) c.3548-8G>C (n.3548-8G>C) c.2824-8G>C (n.2824-8G>C) c.2791-8G>C (n.2791-8G>C) c.3004-8G>C (n.3004-8G>C) | |
X | g.53235192C>T | CA10419785 | IQSEC2 | c.3661-8G>A (n.3661-8G>A) c.1453+591G>A c.962+591G>A c.316+1130G>A (n.316+1130G>A) c.514+1130G>A (n.514+1130G>A) n.482-8G>A c.3452-8G>A (n.3452-8G>A) c.3502-8G>A (n.3502-8G>A) c.3472-8G>A (n.3472-8G>A) c.2837-8G>A (n.2837-8G>A) c.3598-8G>A (n.3598-8G>A) c.2887-8G>A (n.2887-8G>A) c.3597+591G>A (n.3597+591G>A) c.3547+1130G>A (n.3547+1130G>A) c.3548-8G>A (n.3548-8G>A) c.2824-8G>A (n.2824-8G>A) c.2791-8G>A (n.2791-8G>A) c.3004-8G>A (n.3004-8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235193G>A | CA2429770723 | IQSEC2 | c.3661-9C>T (n.3661-9C>T) c.1453+590C>T c.962+590C>T c.316+1129C>T (n.316+1129C>T) c.514+1129C>T (n.514+1129C>T) n.482-9C>T c.3452-9C>T (n.3452-9C>T) c.3502-9C>T (n.3502-9C>T) c.3472-9C>T (n.3472-9C>T) c.2837-9C>T (n.2837-9C>T) c.3598-9C>T (n.3598-9C>T) c.2887-9C>T (n.2887-9C>T) c.3597+590C>T (n.3597+590C>T) c.3547+1129C>T (n.3547+1129C>T) c.3548-9C>T (n.3548-9C>T) c.2824-9C>T (n.2824-9C>T) c.2791-9C>T (n.2791-9C>T) c.3004-9C>T (n.3004-9C>T) | ClinVar dbSNP gnomAD v4 |
X | g.53235193G= | CA2429770722 | IQSEC2 | c.3661-9C= (n.3661-9C=) c.1453+590C= c.962+590C= c.316+1129C= (n.316+1129C=) c.514+1129C= (n.514+1129C=) n.482-9C= c.3452-9C= (n.3452-9C=) c.3502-9C= (n.3502-9C=) c.3472-9C= (n.3472-9C=) c.2837-9C= (n.2837-9C=) c.3598-9C= (n.3598-9C=) c.2887-9C= (n.2887-9C=) c.3597+590C= (n.3597+590C=) c.3547+1129C= (n.3547+1129C=) c.3548-9C= (n.3548-9C=) c.2824-9C= (n.2824-9C=) c.2791-9C= (n.2791-9C=) c.3004-9C= (n.3004-9C=) | |
X | g.53235193G>T | CA2693794701 | IQSEC2 | c.3661-9C>A (n.3661-9C>A) c.1453+590C>A c.962+590C>A c.316+1129C>A (n.316+1129C>A) c.514+1129C>A (n.514+1129C>A) n.482-9C>A c.3452-9C>A (n.3452-9C>A) c.3502-9C>A (n.3502-9C>A) c.3472-9C>A (n.3472-9C>A) c.2837-9C>A (n.2837-9C>A) c.3598-9C>A (n.3598-9C>A) c.2887-9C>A (n.2887-9C>A) c.3597+590C>A (n.3597+590C>A) c.3547+1129C>A (n.3547+1129C>A) c.3548-9C>A (n.3548-9C>A) c.2824-9C>A (n.2824-9C>A) c.2791-9C>A (n.2791-9C>A) c.3004-9C>A (n.3004-9C>A) | gnomAD v4 |
X | g.53235196dup | CA2832576992 | IQSEC2 | c.3661-9dup (n.3661-9dup) c.1453+590dup c.962+590dup c.316+1129dup (n.316+1129dup) c.514+1129dup (n.514+1129dup) n.482-9dup c.3452-9dup (n.3452-9dup) c.3502-9dup (n.3502-9dup) c.3472-9dup (n.3472-9dup) c.2837-9dup (n.2837-9dup) c.3598-9dup (n.3598-9dup) c.2887-9dup (n.2887-9dup) c.3597+590dup (n.3597+590dup) c.3547+1129dup (n.3547+1129dup) c.3548-9dup (n.3548-9dup) c.2824-9dup (n.2824-9dup) c.2791-9dup (n.2791-9dup) c.3004-9dup (n.3004-9dup) | |
X | g.53235195G>A | CA2693794704 | IQSEC2 | c.3661-11C>T (n.3661-11C>T) c.1453+588C>T c.962+588C>T c.316+1127C>T (n.316+1127C>T) c.514+1127C>T (n.514+1127C>T) n.482-11C>T c.3452-11C>T (n.3452-11C>T) c.3502-11C>T (n.3502-11C>T) c.3472-11C>T (n.3472-11C>T) c.2837-11C>T (n.2837-11C>T) c.3598-11C>T (n.3598-11C>T) c.2887-11C>T (n.2887-11C>T) c.3597+588C>T (n.3597+588C>T) c.3547+1127C>T (n.3547+1127C>T) c.3548-11C>T (n.3548-11C>T) c.2824-11C>T (n.2824-11C>T) c.2791-11C>T (n.2791-11C>T) c.3004-11C>T (n.3004-11C>T) | gnomAD v4 |
X | g.53235196G>A | CA2580101224 | IQSEC2 | c.3661-12C>T (n.3661-12C>T) c.1453+587C>T c.962+587C>T c.316+1126C>T (n.316+1126C>T) c.514+1126C>T (n.514+1126C>T) n.482-12C>T c.3452-12C>T (n.3452-12C>T) c.3502-12C>T (n.3502-12C>T) c.3472-12C>T (n.3472-12C>T) c.2837-12C>T (n.2837-12C>T) c.3598-12C>T (n.3598-12C>T) c.2887-12C>T (n.2887-12C>T) c.3597+587C>T (n.3597+587C>T) c.3547+1126C>T (n.3547+1126C>T) c.3548-12C>T (n.3548-12C>T) c.2824-12C>T (n.2824-12C>T) c.2791-12C>T (n.2791-12C>T) c.3004-12C>T (n.3004-12C>T) | ClinVar |
X | g.53235197_53235198delinsAG | CA2429770724 | IQSEC2 | c.3661-14_3661-13delinsCT (n.3661-14_3661-13delinsCT) c.1453+585_1453+586delinsCT c.962+585_962+586delinsCT c.316+1124_316+1125delinsCT (n.316+1124_316+1125delinsCT) c.514+1124_514+1125delinsCT (n.514+1124_514+1125delinsCT) n.482-14_482-13delinsCT c.3452-14_3452-13delinsCT (n.3452-14_3452-13delinsCT) c.3502-14_3502-13delinsCT (n.3502-14_3502-13delinsCT) c.3472-14_3472-13delinsCT (n.3472-14_3472-13delinsCT) c.2837-14_2837-13delinsCT (n.2837-14_2837-13delinsCT) c.3598-14_3598-13delinsCT (n.3598-14_3598-13delinsCT) c.2887-14_2887-13delinsCT (n.2887-14_2887-13delinsCT) c.3597+585_3597+586delinsCT (n.3597+585_3597+586delinsCT) c.3547+1124_3547+1125delinsCT (n.3547+1124_3547+1125delinsCT) c.3548-14_3548-13delinsCT (n.3548-14_3548-13delinsCT) c.2824-14_2824-13delinsCT (n.2824-14_2824-13delinsCT) c.2791-14_2791-13delinsCT (n.2791-14_2791-13delinsCT) c.3004-14_3004-13delinsCT (n.3004-14_3004-13delinsCT) | |
X | g.53235198G>A | CA2693794709 | IQSEC2 | c.3661-14C>T (n.3661-14C>T) c.1453+585C>T c.962+585C>T c.316+1124C>T (n.316+1124C>T) c.514+1124C>T (n.514+1124C>T) n.482-14C>T c.3452-14C>T (n.3452-14C>T) c.3502-14C>T (n.3502-14C>T) c.3472-14C>T (n.3472-14C>T) c.2837-14C>T (n.2837-14C>T) c.3598-14C>T (n.3598-14C>T) c.2887-14C>T (n.2887-14C>T) c.3597+585C>T (n.3597+585C>T) c.3547+1124C>T (n.3547+1124C>T) c.3548-14C>T (n.3548-14C>T) c.2824-14C>T (n.2824-14C>T) c.2791-14C>T (n.2791-14C>T) c.3004-14C>T (n.3004-14C>T) | gnomAD v4 |
X | g.53235198G>T | CA2579614772 | IQSEC2 | c.3661-14C>A (n.3661-14C>A) c.1453+585C>A c.962+585C>A c.316+1124C>A (n.316+1124C>A) c.514+1124C>A (n.514+1124C>A) n.482-14C>A c.3452-14C>A (n.3452-14C>A) c.3502-14C>A (n.3502-14C>A) c.3472-14C>A (n.3472-14C>A) c.2837-14C>A (n.2837-14C>A) c.3598-14C>A (n.3598-14C>A) c.2887-14C>A (n.2887-14C>A) c.3597+585C>A (n.3597+585C>A) c.3547+1124C>A (n.3547+1124C>A) c.3548-14C>A (n.3548-14C>A) c.2824-14C>A (n.2824-14C>A) c.2791-14C>A (n.2791-14C>A) c.3004-14C>A (n.3004-14C>A) | ClinVar gnomAD v4 |
X | g.53235203dup | CA641547561 | IQSEC2 | c.3661-14dup (n.3661-14dup) c.1453+585dup c.962+585dup c.316+1124dup (n.316+1124dup) c.514+1124dup (n.514+1124dup) n.482-14dup c.3452-14dup (n.3452-14dup) c.3502-14dup (n.3502-14dup) c.3472-14dup (n.3472-14dup) c.2837-14dup (n.2837-14dup) c.3598-14dup (n.3598-14dup) c.2887-14dup (n.2887-14dup) c.3597+585dup (n.3597+585dup) c.3547+1124dup (n.3547+1124dup) c.3548-14dup (n.3548-14dup) c.2824-14dup (n.2824-14dup) c.2791-14dup (n.2791-14dup) c.3004-14dup (n.3004-14dup) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235203del | CA876268967 | IQSEC2 | c.3661-14del (n.3661-14del) c.1453+585del c.962+585del c.316+1124del (n.316+1124del) c.514+1124del (n.514+1124del) n.482-14del c.3452-14del (n.3452-14del) c.3502-14del (n.3502-14del) c.3472-14del (n.3472-14del) c.2837-14del (n.2837-14del) c.3598-14del (n.3598-14del) c.2887-14del (n.2887-14del) c.3597+585del (n.3597+585del) c.3547+1124del (n.3547+1124del) c.3548-14del (n.3548-14del) c.2824-14del (n.2824-14del) c.2791-14del (n.2791-14del) c.3004-14del (n.3004-14del) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53235199G>A | CA641547565 | IQSEC2 | c.3661-15C>T (n.3661-15C>T) c.1453+584C>T c.962+584C>T c.316+1123C>T (n.316+1123C>T) c.514+1123C>T (n.514+1123C>T) n.482-15C>T c.3452-15C>T (n.3452-15C>T) c.3502-15C>T (n.3502-15C>T) c.3472-15C>T (n.3472-15C>T) c.2837-15C>T (n.2837-15C>T) c.3598-15C>T (n.3598-15C>T) c.2887-15C>T (n.2887-15C>T) c.3597+584C>T (n.3597+584C>T) c.3547+1123C>T (n.3547+1123C>T) c.3548-15C>T (n.3548-15C>T) c.2824-15C>T (n.2824-15C>T) c.2791-15C>T (n.2791-15C>T) c.3004-15C>T (n.3004-15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235199G>C | CA876268969 | IQSEC2 | c.3661-15C>G (n.3661-15C>G) c.1453+584C>G c.962+584C>G c.316+1123C>G (n.316+1123C>G) c.514+1123C>G (n.514+1123C>G) n.482-15C>G c.3452-15C>G (n.3452-15C>G) c.3502-15C>G (n.3502-15C>G) c.3472-15C>G (n.3472-15C>G) c.2837-15C>G (n.2837-15C>G) c.3598-15C>G (n.3598-15C>G) c.2887-15C>G (n.2887-15C>G) c.3597+584C>G (n.3597+584C>G) c.3547+1123C>G (n.3547+1123C>G) c.3548-15C>G (n.3548-15C>G) c.2824-15C>G (n.2824-15C>G) c.2791-15C>G (n.2791-15C>G) c.3004-15C>G (n.3004-15C>G) | ClinVar dbSNP gnomAD v4 |
X | g.53235199G= | CA2429770725 | IQSEC2 | c.3661-15C= (n.3661-15C=) c.1453+584C= c.962+584C= c.316+1123C= (n.316+1123C=) c.514+1123C= (n.514+1123C=) n.482-15C= c.3452-15C= (n.3452-15C=) c.3502-15C= (n.3502-15C=) c.3472-15C= (n.3472-15C=) c.2837-15C= (n.2837-15C=) c.3598-15C= (n.3598-15C=) c.2887-15C= (n.2887-15C=) c.3597+584C= (n.3597+584C=) c.3547+1123C= (n.3547+1123C=) c.3548-15C= (n.3548-15C=) c.2824-15C= (n.2824-15C=) c.2791-15C= (n.2791-15C=) c.3004-15C= (n.3004-15C=) | |
X | g.53235199G>T | CA2579614773 | IQSEC2 | c.3661-15C>A (n.3661-15C>A) c.1453+584C>A c.962+584C>A c.316+1123C>A (n.316+1123C>A) c.514+1123C>A (n.514+1123C>A) n.482-15C>A c.3452-15C>A (n.3452-15C>A) c.3502-15C>A (n.3502-15C>A) c.3472-15C>A (n.3472-15C>A) c.2837-15C>A (n.2837-15C>A) c.3598-15C>A (n.3598-15C>A) c.2887-15C>A (n.2887-15C>A) c.3597+584C>A (n.3597+584C>A) c.3547+1123C>A (n.3547+1123C>A) c.3548-15C>A (n.3548-15C>A) c.2824-15C>A (n.2824-15C>A) c.2791-15C>A (n.2791-15C>A) c.3004-15C>A (n.3004-15C>A) | gnomAD v4 |
X | g.53235199_53235200insA | CA2820950292 | IQSEC2 | c.3661-16_3661-15insT (n.3661-16_3661-15insT) c.1453+583_1453+584insT c.962+583_962+584insT c.316+1122_316+1123insT (n.316+1122_316+1123insT) c.514+1122_514+1123insT (n.514+1122_514+1123insT) n.482-16_482-15insT c.3452-16_3452-15insT (n.3452-16_3452-15insT) c.3502-16_3502-15insT (n.3502-16_3502-15insT) c.3472-16_3472-15insT (n.3472-16_3472-15insT) c.2837-16_2837-15insT (n.2837-16_2837-15insT) c.3598-16_3598-15insT (n.3598-16_3598-15insT) c.2887-16_2887-15insT (n.2887-16_2887-15insT) c.3597+583_3597+584insT (n.3597+583_3597+584insT) c.3547+1122_3547+1123insT (n.3547+1122_3547+1123insT) c.3548-16_3548-15insT (n.3548-16_3548-15insT) c.2824-16_2824-15insT (n.2824-16_2824-15insT) c.2791-16_2791-15insT (n.2791-16_2791-15insT) c.3004-16_3004-15insT (n.3004-16_3004-15insT) | |
X | g.53235200G>A | CA2693794717 | IQSEC2 | c.3661-16C>T (n.3661-16C>T) c.1453+583C>T c.962+583C>T c.316+1122C>T (n.316+1122C>T) c.514+1122C>T (n.514+1122C>T) n.482-16C>T c.3452-16C>T (n.3452-16C>T) c.3502-16C>T (n.3502-16C>T) c.3472-16C>T (n.3472-16C>T) c.2837-16C>T (n.2837-16C>T) c.3598-16C>T (n.3598-16C>T) c.2887-16C>T (n.2887-16C>T) c.3597+583C>T (n.3597+583C>T) c.3547+1122C>T (n.3547+1122C>T) c.3548-16C>T (n.3548-16C>T) c.2824-16C>T (n.2824-16C>T) c.2791-16C>T (n.2791-16C>T) c.3004-16C>T (n.3004-16C>T) | gnomAD v4 |
X | g.53235201G>A | CA641547572 | IQSEC2 | c.3661-17C>T (n.3661-17C>T) c.1453+582C>T c.962+582C>T c.316+1121C>T (n.316+1121C>T) c.514+1121C>T (n.514+1121C>T) n.482-17C>T c.3452-17C>T (n.3452-17C>T) c.3502-17C>T (n.3502-17C>T) c.3472-17C>T (n.3472-17C>T) c.2837-17C>T (n.2837-17C>T) c.3598-17C>T (n.3598-17C>T) c.2887-17C>T (n.2887-17C>T) c.3597+582C>T (n.3597+582C>T) c.3547+1121C>T (n.3547+1121C>T) c.3548-17C>T (n.3548-17C>T) c.2824-17C>T (n.2824-17C>T) c.2791-17C>T (n.2791-17C>T) c.3004-17C>T (n.3004-17C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235201G>C | CA2693794720 | IQSEC2 | c.3661-17C>G (n.3661-17C>G) c.1453+582C>G c.962+582C>G c.316+1121C>G (n.316+1121C>G) c.514+1121C>G (n.514+1121C>G) n.482-17C>G c.3452-17C>G (n.3452-17C>G) c.3502-17C>G (n.3502-17C>G) c.3472-17C>G (n.3472-17C>G) c.2837-17C>G (n.2837-17C>G) c.3598-17C>G (n.3598-17C>G) c.2887-17C>G (n.2887-17C>G) c.3597+582C>G (n.3597+582C>G) c.3547+1121C>G (n.3547+1121C>G) c.3548-17C>G (n.3548-17C>G) c.2824-17C>G (n.2824-17C>G) c.2791-17C>G (n.2791-17C>G) c.3004-17C>G (n.3004-17C>G) | gnomAD v4 |
X | g.53235201G= | CA2429770726 | IQSEC2 | c.3661-17C= (n.3661-17C=) c.1453+582C= c.962+582C= c.316+1121C= (n.316+1121C=) c.514+1121C= (n.514+1121C=) n.482-17C= c.3452-17C= (n.3452-17C=) c.3502-17C= (n.3502-17C=) c.3472-17C= (n.3472-17C=) c.2837-17C= (n.2837-17C=) c.3598-17C= (n.3598-17C=) c.2887-17C= (n.2887-17C=) c.3597+582C= (n.3597+582C=) c.3547+1121C= (n.3547+1121C=) c.3548-17C= (n.3548-17C=) c.2824-17C= (n.2824-17C=) c.2791-17C= (n.2791-17C=) c.3004-17C= (n.3004-17C=) | |
X | g.53235201_53235202insT | CA2429770727 | IQSEC2 | c.3661-18_3661-17insA (n.3661-18_3661-17insA) c.1453+581_1453+582insA c.962+581_962+582insA c.316+1120_316+1121insA (n.316+1120_316+1121insA) c.514+1120_514+1121insA (n.514+1120_514+1121insA) n.482-18_482-17insA c.3452-18_3452-17insA (n.3452-18_3452-17insA) c.3502-18_3502-17insA (n.3502-18_3502-17insA) c.3472-18_3472-17insA (n.3472-18_3472-17insA) c.2837-18_2837-17insA (n.2837-18_2837-17insA) c.3598-18_3598-17insA (n.3598-18_3598-17insA) c.2887-18_2887-17insA (n.2887-18_2887-17insA) c.3597+581_3597+582insA (n.3597+581_3597+582insA) c.3547+1120_3547+1121insA (n.3547+1120_3547+1121insA) c.3548-18_3548-17insA (n.3548-18_3548-17insA) c.2824-18_2824-17insA (n.2824-18_2824-17insA) c.2791-18_2791-17insA (n.2791-18_2791-17insA) c.3004-18_3004-17insA (n.3004-18_3004-17insA) | dbSNP |
X | g.53235201_53235202insAGAGGTGGAGAAGGAGGAGAAAGAGGAGGAAAAGATGGAGAA | CA2820950294 | IQSEC2 | c.3661-18_3661-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT (n.3661-18_3661-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT) c.1453+581_1453+582insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT c.962+581_962+582insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT c.316+1120_316+1121insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT (n.316+1120_316+1121insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT) c.514+1120_514+1121insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT (n.514+1120_514+1121insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT) n.482-18_482-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT c.3452-18_3452-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT (n.3452-18_3452-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT) c.3502-18_3502-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT (n.3502-18_3502-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT) c.3472-18_3472-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT (n.3472-18_3472-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT) c.2837-18_2837-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT (n.2837-18_2837-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT) c.3598-18_3598-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT (n.3598-18_3598-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT) c.2887-18_2887-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT (n.2887-18_2887-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT) c.3597+581_3597+582insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT (n.3597+581_3597+582insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT) c.3547+1120_3547+1121insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT (n.3547+1120_3547+1121insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT) c.3548-18_3548-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT (n.3548-18_3548-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT) c.2824-18_2824-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT (n.2824-18_2824-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT) c.2791-18_2791-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT (n.2791-18_2791-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT) c.3004-18_3004-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT (n.3004-18_3004-17insTTCTCCATCTTTTCCTCCTCTTTCTCCTCCTTCTCCACCTCT) | |
X | g.53235203G>A | CA329162236 | IQSEC2 | c.3661-19C>T (n.3661-19C>T) c.1453+580C>T c.962+580C>T c.316+1119C>T (n.316+1119C>T) c.514+1119C>T (n.514+1119C>T) n.482-19C>T c.3452-19C>T (n.3452-19C>T) c.3502-19C>T (n.3502-19C>T) c.3472-19C>T (n.3472-19C>T) c.2837-19C>T (n.2837-19C>T) c.3598-19C>T (n.3598-19C>T) c.2887-19C>T (n.2887-19C>T) c.3597+580C>T (n.3597+580C>T) c.3547+1119C>T (n.3547+1119C>T) c.3548-19C>T (n.3548-19C>T) c.2824-19C>T (n.2824-19C>T) c.2791-19C>T (n.2791-19C>T) c.3004-19C>T (n.3004-19C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235203G= | CA2429770728 | IQSEC2 | c.3661-19C= (n.3661-19C=) c.1453+580C= c.962+580C= c.316+1119C= (n.316+1119C=) c.514+1119C= (n.514+1119C=) n.482-19C= c.3452-19C= (n.3452-19C=) c.3502-19C= (n.3502-19C=) c.3472-19C= (n.3472-19C=) c.2837-19C= (n.2837-19C=) c.3598-19C= (n.3598-19C=) c.2887-19C= (n.2887-19C=) c.3597+580C= (n.3597+580C=) c.3547+1119C= (n.3547+1119C=) c.3548-19C= (n.3548-19C=) c.2824-19C= (n.2824-19C=) c.2791-19C= (n.2791-19C=) c.3004-19C= (n.3004-19C=) | |
X | g.53235203G>T | CA641547574 | IQSEC2 | c.3661-19C>A (n.3661-19C>A) c.1453+580C>A c.962+580C>A c.316+1119C>A (n.316+1119C>A) c.514+1119C>A (n.514+1119C>A) n.482-19C>A c.3452-19C>A (n.3452-19C>A) c.3502-19C>A (n.3502-19C>A) c.3472-19C>A (n.3472-19C>A) c.2837-19C>A (n.2837-19C>A) c.3598-19C>A (n.3598-19C>A) c.2887-19C>A (n.2887-19C>A) c.3597+580C>A (n.3597+580C>A) c.3547+1119C>A (n.3547+1119C>A) c.3548-19C>A (n.3548-19C>A) c.2824-19C>A (n.2824-19C>A) c.2791-19C>A (n.2791-19C>A) c.3004-19C>A (n.3004-19C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53235205A>G | CA2820950298 | IQSEC2 | c.3661-21T>C (n.3661-21T>C) c.1453+578T>C c.962+578T>C c.316+1117T>C (n.316+1117T>C) c.514+1117T>C (n.514+1117T>C) n.482-21T>C c.3452-21T>C (n.3452-21T>C) c.3502-21T>C (n.3502-21T>C) c.3472-21T>C (n.3472-21T>C) c.2837-21T>C (n.2837-21T>C) c.3598-21T>C (n.3598-21T>C) c.2887-21T>C (n.2887-21T>C) c.3597+578T>C (n.3597+578T>C) c.3547+1117T>C (n.3547+1117T>C) c.3548-21T>C (n.3548-21T>C) c.2824-21T>C (n.2824-21T>C) c.2791-21T>C (n.2791-21T>C) c.3004-21T>C (n.3004-21T>C) | |
X | g.53235205A>T | CA1133160209 | IQSEC2 | c.3661-21T>A (n.3661-21T>A) c.1453+578T>A c.962+578T>A c.316+1117T>A (n.316+1117T>A) c.514+1117T>A (n.514+1117T>A) n.482-21T>A c.3452-21T>A (n.3452-21T>A) c.3502-21T>A (n.3502-21T>A) c.3472-21T>A (n.3472-21T>A) c.2837-21T>A (n.2837-21T>A) c.3598-21T>A (n.3598-21T>A) c.2887-21T>A (n.2887-21T>A) c.3597+578T>A (n.3597+578T>A) c.3547+1117T>A (n.3547+1117T>A) c.3548-21T>A (n.3548-21T>A) c.2824-21T>A (n.2824-21T>A) c.2791-21T>A (n.2791-21T>A) c.3004-21T>A (n.3004-21T>A) | gnomAD v3 gnomAD v4 |
X | g.53235209A>G | CA2693794730 | IQSEC2 | c.3661-25T>C (n.3661-25T>C) c.1453+574T>C c.962+574T>C c.316+1113T>C (n.316+1113T>C) c.514+1113T>C (n.514+1113T>C) n.482-25T>C c.3452-25T>C (n.3452-25T>C) c.3502-25T>C (n.3502-25T>C) c.3472-25T>C (n.3472-25T>C) c.2837-25T>C (n.2837-25T>C) c.3598-25T>C (n.3598-25T>C) c.2887-25T>C (n.2887-25T>C) c.3597+574T>C (n.3597+574T>C) c.3547+1113T>C (n.3547+1113T>C) c.3548-25T>C (n.3548-25T>C) c.2824-25T>C (n.2824-25T>C) c.2791-25T>C (n.2791-25T>C) c.3004-25T>C (n.3004-25T>C) | gnomAD v4 |
X | g.53235210G>T | CA2693794732 | IQSEC2 | c.3661-26C>A (n.3661-26C>A) c.1453+573C>A c.962+573C>A c.316+1112C>A (n.316+1112C>A) c.514+1112C>A (n.514+1112C>A) n.482-26C>A c.3452-26C>A (n.3452-26C>A) c.3502-26C>A (n.3502-26C>A) c.3472-26C>A (n.3472-26C>A) c.2837-26C>A (n.2837-26C>A) c.3598-26C>A (n.3598-26C>A) c.2887-26C>A (n.2887-26C>A) c.3597+573C>A (n.3597+573C>A) c.3547+1112C>A (n.3547+1112C>A) c.3548-26C>A (n.3548-26C>A) c.2824-26C>A (n.2824-26C>A) c.2791-26C>A (n.2791-26C>A) c.3004-26C>A (n.3004-26C>A) | gnomAD v4 |
X | g.53235211G>A | CA2693794733 | IQSEC2 | c.3661-27C>T (n.3661-27C>T) c.1453+572C>T c.962+572C>T c.316+1111C>T (n.316+1111C>T) c.514+1111C>T (n.514+1111C>T) n.482-27C>T c.3452-27C>T (n.3452-27C>T) c.3502-27C>T (n.3502-27C>T) c.3472-27C>T (n.3472-27C>T) c.2837-27C>T (n.2837-27C>T) c.3598-27C>T (n.3598-27C>T) c.2887-27C>T (n.2887-27C>T) c.3597+572C>T (n.3597+572C>T) c.3547+1111C>T (n.3547+1111C>T) c.3548-27C>T (n.3548-27C>T) c.2824-27C>T (n.2824-27C>T) c.2791-27C>T (n.2791-27C>T) c.3004-27C>T (n.3004-27C>T) | gnomAD v4 |
X | g.53235211G= | CA2429770730 | IQSEC2 | c.3661-27C= (n.3661-27C=) c.1453+572C= c.962+572C= c.316+1111C= (n.316+1111C=) c.514+1111C= (n.514+1111C=) n.482-27C= c.3452-27C= (n.3452-27C=) c.3502-27C= (n.3502-27C=) c.3472-27C= (n.3472-27C=) c.2837-27C= (n.2837-27C=) c.3598-27C= (n.3598-27C=) c.2887-27C= (n.2887-27C=) c.3597+572C= (n.3597+572C=) c.3547+1111C= (n.3547+1111C=) c.3548-27C= (n.3548-27C=) c.2824-27C= (n.2824-27C=) c.2791-27C= (n.2791-27C=) c.3004-27C= (n.3004-27C=) | |
X | g.53235211G>T | CA2429770729 | IQSEC2 | c.3661-27C>A (n.3661-27C>A) c.1453+572C>A c.962+572C>A c.316+1111C>A (n.316+1111C>A) c.514+1111C>A (n.514+1111C>A) n.482-27C>A c.3452-27C>A (n.3452-27C>A) c.3502-27C>A (n.3502-27C>A) c.3472-27C>A (n.3472-27C>A) c.2837-27C>A (n.2837-27C>A) c.3598-27C>A (n.3598-27C>A) c.2887-27C>A (n.2887-27C>A) c.3597+572C>A (n.3597+572C>A) c.3547+1111C>A (n.3547+1111C>A) c.3548-27C>A (n.3548-27C>A) c.2824-27C>A (n.2824-27C>A) c.2791-27C>A (n.2791-27C>A) c.3004-27C>A (n.3004-27C>A) | dbSNP gnomAD v4 |
X | g.53235212C>A | CA2693794737 | IQSEC2 | c.3661-28G>T (n.3661-28G>T) c.1453+571G>T c.962+571G>T c.316+1110G>T (n.316+1110G>T) c.514+1110G>T (n.514+1110G>T) n.482-28G>T c.3452-28G>T (n.3452-28G>T) c.3502-28G>T (n.3502-28G>T) c.3472-28G>T (n.3472-28G>T) c.2837-28G>T (n.2837-28G>T) c.3598-28G>T (n.3598-28G>T) c.2887-28G>T (n.2887-28G>T) c.3597+571G>T (n.3597+571G>T) c.3547+1110G>T (n.3547+1110G>T) c.3548-28G>T (n.3548-28G>T) c.2824-28G>T (n.2824-28G>T) c.2791-28G>T (n.2791-28G>T) c.3004-28G>T (n.3004-28G>T) | gnomAD v4 |
X | g.53235212C= | CA2429770732 | IQSEC2 | c.3661-28G= (n.3661-28G=) c.1453+571G= c.962+571G= c.316+1110G= (n.316+1110G=) c.514+1110G= (n.514+1110G=) n.482-28G= c.3452-28G= (n.3452-28G=) c.3502-28G= (n.3502-28G=) c.3472-28G= (n.3472-28G=) c.2837-28G= (n.2837-28G=) c.3598-28G= (n.3598-28G=) c.2887-28G= (n.2887-28G=) c.3597+571G= (n.3597+571G=) c.3547+1110G= (n.3547+1110G=) c.3548-28G= (n.3548-28G=) c.2824-28G= (n.2824-28G=) c.2791-28G= (n.2791-28G=) c.3004-28G= (n.3004-28G=) | |
X | g.53235212C>T | CA2429770731 | IQSEC2 | c.3661-28G>A (n.3661-28G>A) c.1453+571G>A c.962+571G>A c.316+1110G>A (n.316+1110G>A) c.514+1110G>A (n.514+1110G>A) n.482-28G>A c.3452-28G>A (n.3452-28G>A) c.3502-28G>A (n.3502-28G>A) c.3472-28G>A (n.3472-28G>A) c.2837-28G>A (n.2837-28G>A) c.3598-28G>A (n.3598-28G>A) c.2887-28G>A (n.2887-28G>A) c.3597+571G>A (n.3597+571G>A) c.3547+1110G>A (n.3547+1110G>A) c.3548-28G>A (n.3548-28G>A) c.2824-28G>A (n.2824-28G>A) c.2791-28G>A (n.2791-28G>A) c.3004-28G>A (n.3004-28G>A) | dbSNP |
X | g.53235213del | CA2579614774 | IQSEC2 | c.3661-28del (n.3661-28del) c.1453+571del c.962+571del c.316+1110del (n.316+1110del) c.514+1110del (n.514+1110del) n.482-28del c.3452-28del (n.3452-28del) c.3502-28del (n.3502-28del) c.3472-28del (n.3472-28del) c.2837-28del (n.2837-28del) c.3598-28del (n.3598-28del) c.2887-28del (n.2887-28del) c.3597+571del (n.3597+571del) c.3547+1110del (n.3547+1110del) c.3548-28del (n.3548-28del) c.2824-28del (n.2824-28del) c.2791-28del (n.2791-28del) c.3004-28del (n.3004-28del) | |
X | g.53235213C>A | CA2820950299 | IQSEC2 | c.3661-29G>T (n.3661-29G>T) c.1453+570G>T c.962+570G>T c.316+1109G>T (n.316+1109G>T) c.514+1109G>T (n.514+1109G>T) n.482-29G>T c.3452-29G>T (n.3452-29G>T) c.3502-29G>T (n.3502-29G>T) c.3472-29G>T (n.3472-29G>T) c.2837-29G>T (n.2837-29G>T) c.3598-29G>T (n.3598-29G>T) c.2887-29G>T (n.2887-29G>T) c.3597+570G>T (n.3597+570G>T) c.3547+1109G>T (n.3547+1109G>T) c.3548-29G>T (n.3548-29G>T) c.2824-29G>T (n.2824-29G>T) c.2791-29G>T (n.2791-29G>T) c.3004-29G>T (n.3004-29G>T) | |
X | g.53235213C>T | CA2693794739 | IQSEC2 | c.3661-29G>A (n.3661-29G>A) c.1453+570G>A c.962+570G>A c.316+1109G>A (n.316+1109G>A) c.514+1109G>A (n.514+1109G>A) n.482-29G>A c.3452-29G>A (n.3452-29G>A) c.3502-29G>A (n.3502-29G>A) c.3472-29G>A (n.3472-29G>A) c.2837-29G>A (n.2837-29G>A) c.3598-29G>A (n.3598-29G>A) c.2887-29G>A (n.2887-29G>A) c.3597+570G>A (n.3597+570G>A) c.3547+1109G>A (n.3547+1109G>A) c.3548-29G>A (n.3548-29G>A) c.2824-29G>A (n.2824-29G>A) c.2791-29G>A (n.2791-29G>A) c.3004-29G>A (n.3004-29G>A) | gnomAD v4 |
X | g.53235215G>A | CA2579614775 | IQSEC2 | c.3661-31C>T (n.3661-31C>T) c.1453+568C>T c.962+568C>T c.316+1107C>T (n.316+1107C>T) c.514+1107C>T (n.514+1107C>T) n.482-31C>T c.3452-31C>T (n.3452-31C>T) c.3502-31C>T (n.3502-31C>T) c.3472-31C>T (n.3472-31C>T) c.2837-31C>T (n.2837-31C>T) c.3598-31C>T (n.3598-31C>T) c.2887-31C>T (n.2887-31C>T) c.3597+568C>T (n.3597+568C>T) c.3547+1107C>T (n.3547+1107C>T) c.3548-31C>T (n.3548-31C>T) c.2824-31C>T (n.2824-31C>T) c.2791-31C>T (n.2791-31C>T) c.3004-31C>T (n.3004-31C>T) | gnomAD v4 |
X | g.53235215G>T | CA2693794740 | IQSEC2 | c.3661-31C>A (n.3661-31C>A) c.1453+568C>A c.962+568C>A c.316+1107C>A (n.316+1107C>A) c.514+1107C>A (n.514+1107C>A) n.482-31C>A c.3452-31C>A (n.3452-31C>A) c.3502-31C>A (n.3502-31C>A) c.3472-31C>A (n.3472-31C>A) c.2837-31C>A (n.2837-31C>A) c.3598-31C>A (n.3598-31C>A) c.2887-31C>A (n.2887-31C>A) c.3597+568C>A (n.3597+568C>A) c.3547+1107C>A (n.3547+1107C>A) c.3548-31C>A (n.3548-31C>A) c.2824-31C>A (n.2824-31C>A) c.2791-31C>A (n.2791-31C>A) c.3004-31C>A (n.3004-31C>A) | gnomAD v4 |
X | g.53235216G>A | CA641547590 | IQSEC2 | c.3661-32C>T (n.3661-32C>T) c.1453+567C>T c.962+567C>T c.316+1106C>T (n.316+1106C>T) c.514+1106C>T (n.514+1106C>T) n.482-32C>T c.3452-32C>T (n.3452-32C>T) c.3502-32C>T (n.3502-32C>T) c.3472-32C>T (n.3472-32C>T) c.2837-32C>T (n.2837-32C>T) c.3598-32C>T (n.3598-32C>T) c.2887-32C>T (n.2887-32C>T) c.3597+567C>T (n.3597+567C>T) c.3547+1106C>T (n.3547+1106C>T) c.3548-32C>T (n.3548-32C>T) c.2824-32C>T (n.2824-32C>T) c.2791-32C>T (n.2791-32C>T) c.3004-32C>T (n.3004-32C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235216G= | CA2429770733 | IQSEC2 | c.3661-32C= (n.3661-32C=) c.1453+567C= c.962+567C= c.316+1106C= (n.316+1106C=) c.514+1106C= (n.514+1106C=) n.482-32C= c.3452-32C= (n.3452-32C=) c.3502-32C= (n.3502-32C=) c.3472-32C= (n.3472-32C=) c.2837-32C= (n.2837-32C=) c.3598-32C= (n.3598-32C=) c.2887-32C= (n.2887-32C=) c.3597+567C= (n.3597+567C=) c.3547+1106C= (n.3547+1106C=) c.3548-32C= (n.3548-32C=) c.2824-32C= (n.2824-32C=) c.2791-32C= (n.2791-32C=) c.3004-32C= (n.3004-32C=) | |
X | g.53235217C>A | CA2820950300 | IQSEC2 | c.3661-33G>T (n.3661-33G>T) c.1453+566G>T c.962+566G>T c.316+1105G>T (n.316+1105G>T) c.514+1105G>T (n.514+1105G>T) n.482-33G>T c.3452-33G>T (n.3452-33G>T) c.3502-33G>T (n.3502-33G>T) c.3472-33G>T (n.3472-33G>T) c.2837-33G>T (n.2837-33G>T) c.3598-33G>T (n.3598-33G>T) c.2887-33G>T (n.2887-33G>T) c.3597+566G>T (n.3597+566G>T) c.3547+1105G>T (n.3547+1105G>T) c.3548-33G>T (n.3548-33G>T) c.2824-33G>T (n.2824-33G>T) c.2791-33G>T (n.2791-33G>T) c.*270G>T (n.*270G>T) c.3004-33G>T (n.3004-33G>T) | |
X | g.53235218T>C | CA641547594 | IQSEC2 | c.3661-34A>G (n.3661-34A>G) c.1453+565A>G c.962+565A>G c.316+1104A>G (n.316+1104A>G) c.514+1104A>G (n.514+1104A>G) n.482-34A>G c.3452-34A>G (n.3452-34A>G) c.3502-34A>G (n.3502-34A>G) c.3472-34A>G (n.3472-34A>G) c.2837-34A>G (n.2837-34A>G) c.3598-34A>G (n.3598-34A>G) c.2887-34A>G (n.2887-34A>G) c.3597+565A>G (n.3597+565A>G) c.3547+1104A>G (n.3547+1104A>G) c.3548-34A>G (n.3548-34A>G) c.2824-34A>G (n.2824-34A>G) c.2791-34A>G (n.2791-34A>G) c.*269A>G (n.*269A>G) c.3004-34A>G (n.3004-34A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235218T= | CA2429770734 | IQSEC2 | c.3661-34A= (n.3661-34A=) c.1453+565A= c.962+565A= c.316+1104A= (n.316+1104A=) c.514+1104A= (n.514+1104A=) n.482-34A= c.3452-34A= (n.3452-34A=) c.3502-34A= (n.3502-34A=) c.3472-34A= (n.3472-34A=) c.2837-34A= (n.2837-34A=) c.3598-34A= (n.3598-34A=) c.2887-34A= (n.2887-34A=) c.3597+565A= (n.3597+565A=) c.3547+1104A= (n.3547+1104A=) c.3548-34A= (n.3548-34A=) c.2824-34A= (n.2824-34A=) c.2791-34A= (n.2791-34A=) c.*269A= (n.*269A=) c.3004-34A= (n.3004-34A=) | |
X | g.53235219A= | CA2429770735 | IQSEC2 | c.3661-35T= (n.3661-35T=) c.1453+564T= c.962+564T= c.316+1103T= (n.316+1103T=) c.514+1103T= (n.514+1103T=) n.482-35T= c.3452-35T= (n.3452-35T=) c.3502-35T= (n.3502-35T=) c.3472-35T= (n.3472-35T=) c.2837-35T= (n.2837-35T=) c.3598-35T= (n.3598-35T=) c.2887-35T= (n.2887-35T=) c.3597+564T= (n.3597+564T=) c.3547+1103T= (n.3547+1103T=) c.3548-35T= (n.3548-35T=) c.2824-35T= (n.2824-35T=) c.2791-35T= (n.2791-35T=) c.*268T= (n.*268T=) c.3004-35T= (n.3004-35T=) | |
X | g.53235219A>G | CA10419786 | IQSEC2 | c.3661-35T>C (n.3661-35T>C) c.1453+564T>C c.962+564T>C c.316+1103T>C (n.316+1103T>C) c.514+1103T>C (n.514+1103T>C) n.482-35T>C c.3452-35T>C (n.3452-35T>C) c.3502-35T>C (n.3502-35T>C) c.3472-35T>C (n.3472-35T>C) c.2837-35T>C (n.2837-35T>C) c.3598-35T>C (n.3598-35T>C) c.2887-35T>C (n.2887-35T>C) c.3597+564T>C (n.3597+564T>C) c.3547+1103T>C (n.3547+1103T>C) c.3548-35T>C (n.3548-35T>C) c.2824-35T>C (n.2824-35T>C) c.2791-35T>C (n.2791-35T>C) c.*268T>C (n.*268T>C) c.3004-35T>C (n.3004-35T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53235220G>T | CA2693794741 | IQSEC2 | c.3661-36C>A (n.3661-36C>A) c.1453+563C>A c.962+563C>A c.316+1102C>A (n.316+1102C>A) c.514+1102C>A (n.514+1102C>A) n.482-36C>A c.3452-36C>A (n.3452-36C>A) c.3502-36C>A (n.3502-36C>A) c.3472-36C>A (n.3472-36C>A) c.2837-36C>A (n.2837-36C>A) c.3598-36C>A (n.3598-36C>A) c.2887-36C>A (n.2887-36C>A) c.3597+563C>A (n.3597+563C>A) c.3547+1102C>A (n.3547+1102C>A) c.3548-36C>A (n.3548-36C>A) c.2824-36C>A (n.2824-36C>A) c.2791-36C>A (n.2791-36C>A) c.*267C>A (n.*267C>A) c.3004-36C>A (n.3004-36C>A) | gnomAD v4 |
X | g.53235222T>A | CA2693794743 | IQSEC2 | c.3661-38A>T (n.3661-38A>T) c.1453+561A>T c.962+561A>T c.316+1100A>T (n.316+1100A>T) c.514+1100A>T (n.514+1100A>T) n.482-38A>T c.3452-38A>T (n.3452-38A>T) c.3502-38A>T (n.3502-38A>T) c.3472-38A>T (n.3472-38A>T) c.2837-38A>T (n.2837-38A>T) c.3598-38A>T (n.3598-38A>T) c.2887-38A>T (n.2887-38A>T) c.3597+561A>T (n.3597+561A>T) c.3547+1100A>T (n.3547+1100A>T) c.3548-38A>T (n.3548-38A>T) c.2824-38A>T (n.2824-38A>T) c.2791-38A>T (n.2791-38A>T) c.*265A>T (n.*265A>T) c.3004-38A>T (n.3004-38A>T) | gnomAD v4 |
X | g.53235222T>C | CA2693794742 | IQSEC2 | c.3661-38A>G (n.3661-38A>G) c.1453+561A>G c.962+561A>G c.316+1100A>G (n.316+1100A>G) c.514+1100A>G (n.514+1100A>G) n.482-38A>G c.3452-38A>G (n.3452-38A>G) c.3502-38A>G (n.3502-38A>G) c.3472-38A>G (n.3472-38A>G) c.2837-38A>G (n.2837-38A>G) c.3598-38A>G (n.3598-38A>G) c.2887-38A>G (n.2887-38A>G) c.3597+561A>G (n.3597+561A>G) c.3547+1100A>G (n.3547+1100A>G) c.3548-38A>G (n.3548-38A>G) c.2824-38A>G (n.2824-38A>G) c.2791-38A>G (n.2791-38A>G) c.*265A>G (n.*265A>G) c.3004-38A>G (n.3004-38A>G) | gnomAD v4 |
X | g.53235223G= | CA2429770736 | IQSEC2 | c.3661-39C= (n.3661-39C=) c.1453+560C= c.962+560C= c.316+1099C= (n.316+1099C=) c.514+1099C= (n.514+1099C=) n.482-39C= c.3452-39C= (n.3452-39C=) c.3502-39C= (n.3502-39C=) c.3472-39C= (n.3472-39C=) c.2837-39C= (n.2837-39C=) c.3598-39C= (n.3598-39C=) c.2887-39C= (n.2887-39C=) c.3597+560C= (n.3597+560C=) c.3547+1099C= (n.3547+1099C=) c.3548-39C= (n.3548-39C=) c.2824-39C= (n.2824-39C=) c.2791-39C= (n.2791-39C=) c.*264C= (n.*264C=) c.3004-39C= (n.3004-39C=) | |
X | g.53235223G>T | CA641547599 | IQSEC2 | c.3661-39C>A (n.3661-39C>A) c.1453+560C>A c.962+560C>A c.316+1099C>A (n.316+1099C>A) c.514+1099C>A (n.514+1099C>A) n.482-39C>A c.3452-39C>A (n.3452-39C>A) c.3502-39C>A (n.3502-39C>A) c.3472-39C>A (n.3472-39C>A) c.2837-39C>A (n.2837-39C>A) c.3598-39C>A (n.3598-39C>A) c.2887-39C>A (n.2887-39C>A) c.3597+560C>A (n.3597+560C>A) c.3547+1099C>A (n.3547+1099C>A) c.3548-39C>A (n.3548-39C>A) c.2824-39C>A (n.2824-39C>A) c.2791-39C>A (n.2791-39C>A) c.*264C>A (n.*264C>A) c.3004-39C>A (n.3004-39C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53235224C= | CA2429770737 | IQSEC2 | c.3661-40G= (n.3661-40G=) c.1453+559G= c.962+559G= c.316+1098G= (n.316+1098G=) c.514+1098G= (n.514+1098G=) n.482-40G= c.3452-40G= (n.3452-40G=) c.3502-40G= (n.3502-40G=) c.3472-40G= (n.3472-40G=) c.2837-40G= (n.2837-40G=) c.3598-40G= (n.3598-40G=) c.2887-40G= (n.2887-40G=) c.3597+559G= (n.3597+559G=) c.3547+1098G= (n.3547+1098G=) c.3548-40G= (n.3548-40G=) c.2824-40G= (n.2824-40G=) c.2791-40G= (n.2791-40G=) c.*263G= (n.*263G=) c.3004-40G= (n.3004-40G=) | |
X | g.53235224C>T | CA2429770738 | IQSEC2 | c.3661-40G>A (n.3661-40G>A) c.1453+559G>A c.962+559G>A c.316+1098G>A (n.316+1098G>A) c.514+1098G>A (n.514+1098G>A) n.482-40G>A c.3452-40G>A (n.3452-40G>A) c.3502-40G>A (n.3502-40G>A) c.3472-40G>A (n.3472-40G>A) c.2837-40G>A (n.2837-40G>A) c.3598-40G>A (n.3598-40G>A) c.2887-40G>A (n.2887-40G>A) c.3597+559G>A (n.3597+559G>A) c.3547+1098G>A (n.3547+1098G>A) c.3548-40G>A (n.3548-40G>A) c.2824-40G>A (n.2824-40G>A) c.2791-40G>A (n.2791-40G>A) c.*263G>A (n.*263G>A) c.3004-40G>A (n.3004-40G>A) | dbSNP |
X | g.53235225C>A | CA2693794748 | IQSEC2 | c.3661-41G>T (n.3661-41G>T) c.1453+558G>T c.962+558G>T c.316+1097G>T (n.316+1097G>T) c.514+1097G>T (n.514+1097G>T) n.482-41G>T c.3452-41G>T (n.3452-41G>T) c.3502-41G>T (n.3502-41G>T) c.3472-41G>T (n.3472-41G>T) c.2837-41G>T (n.2837-41G>T) c.3598-41G>T (n.3598-41G>T) c.2887-41G>T (n.2887-41G>T) c.3597+558G>T (n.3597+558G>T) c.3547+1097G>T (n.3547+1097G>T) c.3548-41G>T (n.3548-41G>T) c.2824-41G>T (n.2824-41G>T) c.2791-41G>T (n.2791-41G>T) c.*262G>T (n.*262G>T) c.3004-41G>T (n.3004-41G>T) | gnomAD v4 |
X | g.53235226C>A | CA2820950301 | IQSEC2 | c.3661-42G>T (n.3661-42G>T) c.1453+557G>T c.962+557G>T c.316+1096G>T (n.316+1096G>T) c.514+1096G>T (n.514+1096G>T) n.482-42G>T c.3452-42G>T (n.3452-42G>T) c.3502-42G>T (n.3502-42G>T) c.3472-42G>T (n.3472-42G>T) c.2837-42G>T (n.2837-42G>T) c.3598-42G>T (n.3598-42G>T) c.2887-42G>T (n.2887-42G>T) c.3597+557G>T (n.3597+557G>T) c.3547+1096G>T (n.3547+1096G>T) c.3548-42G>T (n.3548-42G>T) c.2824-42G>T (n.2824-42G>T) c.2791-42G>T (n.2791-42G>T) c.*261G>T (n.*261G>T) c.3004-42G>T (n.3004-42G>T) | |
X | g.53235226C>G | CA2693794749 | IQSEC2 | c.3661-42G>C (n.3661-42G>C) c.1453+557G>C c.962+557G>C c.316+1096G>C (n.316+1096G>C) c.514+1096G>C (n.514+1096G>C) n.482-42G>C c.3452-42G>C (n.3452-42G>C) c.3502-42G>C (n.3502-42G>C) c.3472-42G>C (n.3472-42G>C) c.2837-42G>C (n.2837-42G>C) c.3598-42G>C (n.3598-42G>C) c.2887-42G>C (n.2887-42G>C) c.3597+557G>C (n.3597+557G>C) c.3547+1096G>C (n.3547+1096G>C) c.3548-42G>C (n.3548-42G>C) c.2824-42G>C (n.2824-42G>C) c.2791-42G>C (n.2791-42G>C) c.*261G>C (n.*261G>C) c.3004-42G>C (n.3004-42G>C) | gnomAD v4 |
X | g.53235226C>T | CA2693794751 | IQSEC2 | c.3661-42G>A (n.3661-42G>A) c.1453+557G>A c.962+557G>A c.316+1096G>A (n.316+1096G>A) c.514+1096G>A (n.514+1096G>A) n.482-42G>A c.3452-42G>A (n.3452-42G>A) c.3502-42G>A (n.3502-42G>A) c.3472-42G>A (n.3472-42G>A) c.2837-42G>A (n.2837-42G>A) c.3598-42G>A (n.3598-42G>A) c.2887-42G>A (n.2887-42G>A) c.3597+557G>A (n.3597+557G>A) c.3547+1096G>A (n.3547+1096G>A) c.3548-42G>A (n.3548-42G>A) c.2824-42G>A (n.2824-42G>A) c.2791-42G>A (n.2791-42G>A) c.*261G>A (n.*261G>A) c.3004-42G>A (n.3004-42G>A) | gnomAD v4 |