| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53234893G>A | CA16621440 | IQSEC2 | c.3952C>T (p.Gln1318Ter) c.1453+890C>T c.962+890C>T c.316+1429C>T (n.316+1429C>T) c.514+1429C>T (n.514+1429C>T) c.*278C>T (n.*278C>T) c.3793C>T (p.Gln1265Ter) c.3763C>T (p.Gln1255Ter) c.3889C>T (p.Gln1297Ter) c.3178C>T (p.Gln1060Ter) c.3597+890C>T (n.3597+890C>T) c.3547+1429C>T (n.3547+1429C>T) c.3115C>T (p.Gln1039Ter) c.3082C>T (p.Gln1028Ter) c.3295C>T (p.Gln1099Ter) | ClinVar dbSNP |
| X | g.53234893G>C | CA413140825 | IQSEC2 | c.3952C>G (p.Gln1318Glu) c.1453+890C>G c.962+890C>G c.316+1429C>G (n.316+1429C>G) c.514+1429C>G (n.514+1429C>G) c.*278C>G (n.*278C>G) c.3793C>G (p.Gln1265Glu) c.3763C>G (p.Gln1255Glu) c.3889C>G (p.Gln1297Glu) c.3178C>G (p.Gln1060Glu) c.3597+890C>G (n.3597+890C>G) c.3547+1429C>G (n.3547+1429C>G) c.3115C>G (p.Gln1039Glu) c.3082C>G (p.Gln1028Glu) c.3295C>G (p.Gln1099Glu) | |
| X | g.53234893G= | CA2429770627 | IQSEC2 | c.3952C= (p.Gln1318=) c.1453+890C= c.962+890C= c.316+1429C= (n.316+1429C=) c.514+1429C= (n.514+1429C=) c.*278C= (n.*278C=) c.3793C= (p.Gln1265=) c.3763C= (p.Gln1255=) c.3889C= (p.Gln1297=) c.3178C= (p.Gln1060=) c.3597+890C= (n.3597+890C=) c.3547+1429C= (n.3547+1429C=) c.3115C= (p.Gln1039=) c.3082C= (p.Gln1028=) c.3295C= (p.Gln1099=) | |
| X | g.53234893G>T | CA413140827 | IQSEC2 | c.3952C>A (p.Gln1318Lys) c.1453+890C>A c.962+890C>A c.316+1429C>A (n.316+1429C>A) c.514+1429C>A (n.514+1429C>A) c.*278C>A (n.*278C>A) c.3793C>A (p.Gln1265Lys) c.3763C>A (p.Gln1255Lys) c.3889C>A (p.Gln1297Lys) c.3178C>A (p.Gln1060Lys) c.3597+890C>A (n.3597+890C>A) c.3547+1429C>A (n.3547+1429C>A) c.3115C>A (p.Gln1039Lys) c.3082C>A (p.Gln1028Lys) c.3295C>A (p.Gln1099Lys) | |
| X | g.53234894G>A | CA516673869 | IQSEC2 | c.3951C>T (p.Leu1317=) c.1453+889C>T c.962+889C>T c.316+1428C>T (n.316+1428C>T) c.514+1428C>T (n.514+1428C>T) c.*277C>T (n.*277C>T) c.3792C>T (p.Leu1264=) c.3762C>T (p.Leu1254=) c.3888C>T (p.Leu1296=) c.3177C>T (p.Leu1059=) c.3597+889C>T (n.3597+889C>T) c.3547+1428C>T (n.3547+1428C>T) c.3114C>T (p.Leu1038=) c.3081C>T (p.Leu1027=) c.3294C>T (p.Leu1098=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.53234894G>C | CA516673867 | IQSEC2 | c.3951C>G (p.Leu1317=) c.1453+889C>G c.962+889C>G c.316+1428C>G (n.316+1428C>G) c.514+1428C>G (n.514+1428C>G) c.*277C>G (n.*277C>G) c.3792C>G (p.Leu1264=) c.3762C>G (p.Leu1254=) c.3888C>G (p.Leu1296=) c.3177C>G (p.Leu1059=) c.3597+889C>G (n.3597+889C>G) c.3547+1428C>G (n.3547+1428C>G) c.3114C>G (p.Leu1038=) c.3081C>G (p.Leu1027=) c.3294C>G (p.Leu1098=) | |
| X | g.53234894G= | CA2429770628 | IQSEC2 | c.3951C= (p.Leu1317=) c.1453+889C= c.962+889C= c.316+1428C= (n.316+1428C=) c.514+1428C= (n.514+1428C=) c.*277C= (n.*277C=) c.3792C= (p.Leu1264=) c.3762C= (p.Leu1254=) c.3888C= (p.Leu1296=) c.3177C= (p.Leu1059=) c.3597+889C= (n.3597+889C=) c.3547+1428C= (n.3547+1428C=) c.3114C= (p.Leu1038=) c.3081C= (p.Leu1027=) c.3294C= (p.Leu1098=) | |
| X | g.53234894G>T | CA516673866 | IQSEC2 | c.3951C>A (p.Leu1317=) c.1453+889C>A c.962+889C>A c.316+1428C>A (n.316+1428C>A) c.514+1428C>A (n.514+1428C>A) c.*277C>A (n.*277C>A) c.3792C>A (p.Leu1264=) c.3762C>A (p.Leu1254=) c.3888C>A (p.Leu1296=) c.3177C>A (p.Leu1059=) c.3597+889C>A (n.3597+889C>A) c.3547+1428C>A (n.3547+1428C>A) c.3114C>A (p.Leu1038=) c.3081C>A (p.Leu1027=) c.3294C>A (p.Leu1098=) | |
| X | g.53234895A>C | CA413140831 | IQSEC2 | c.3950T>G (p.Leu1317Arg) c.1453+888T>G c.962+888T>G c.316+1427T>G (n.316+1427T>G) c.514+1427T>G (n.514+1427T>G) c.*276T>G (n.*276T>G) c.3791T>G (p.Leu1264Arg) c.3761T>G (p.Leu1254Arg) c.3887T>G (p.Leu1296Arg) c.3176T>G (p.Leu1059Arg) c.3597+888T>G (n.3597+888T>G) c.3547+1427T>G (n.3547+1427T>G) c.3113T>G (p.Leu1038Arg) c.3080T>G (p.Leu1027Arg) c.3293T>G (p.Leu1098Arg) | |
| X | g.53234895A>G | CA413140834 | IQSEC2 | c.3950T>C (p.Leu1317Pro) c.1453+888T>C c.962+888T>C c.316+1427T>C (n.316+1427T>C) c.514+1427T>C (n.514+1427T>C) c.*276T>C (n.*276T>C) c.3791T>C (p.Leu1264Pro) c.3761T>C (p.Leu1254Pro) c.3887T>C (p.Leu1296Pro) c.3176T>C (p.Leu1059Pro) c.3597+888T>C (n.3597+888T>C) c.3547+1427T>C (n.3547+1427T>C) c.3113T>C (p.Leu1038Pro) c.3080T>C (p.Leu1027Pro) c.3293T>C (p.Leu1098Pro) | |
| X | g.53234895A>T | CA413140836 | IQSEC2 | c.3950T>A (p.Leu1317His) c.1453+888T>A c.962+888T>A c.316+1427T>A (n.316+1427T>A) c.514+1427T>A (n.514+1427T>A) c.*276T>A (n.*276T>A) c.3791T>A (p.Leu1264His) c.3761T>A (p.Leu1254His) c.3887T>A (p.Leu1296His) c.3176T>A (p.Leu1059His) c.3597+888T>A (n.3597+888T>A) c.3547+1427T>A (n.3547+1427T>A) c.3113T>A (p.Leu1038His) c.3080T>A (p.Leu1027His) c.3293T>A (p.Leu1098His) | |
| X | g.53234897_53235077del | CA2499226779 | IQSEC2 | c.3770_3950del (p.Phe1257SerfsTer?) c.1453+708_1453+888del c.962+708_962+888del c.316+1247_316+1427del (n.316+1247_316+1427del) c.514+1247_514+1427del (n.514+1247_514+1427del) c.*96_*276del (n.*96_*276del) c.3611_3791del (p.Phe1204SerfsTer?) c.3581_3761del (p.Phe1194SerfsTer?) c.3707_3887del (p.Phe1236SerfsTer?) c.2996_3176del (p.Phe999SerfsTer?) c.3597+708_3597+888del (n.3597+708_3597+888del) c.3547+1247_3547+1427del (n.3547+1247_3547+1427del) c.2933_3113del (p.Phe978SerfsTer?) c.2900_3080del (p.Phe967SerfsTer?) c.3113_3293del (p.Phe1038SerfsTer?) | ClinVar dbSNP |
| X | g.53234896G>A | CA413140838 | IQSEC2 | c.3949C>T (p.Leu1317Phe) c.1453+887C>T c.962+887C>T c.316+1426C>T (n.316+1426C>T) c.514+1426C>T (n.514+1426C>T) c.*275C>T (n.*275C>T) c.3790C>T (p.Leu1264Phe) c.3760C>T (p.Leu1254Phe) c.3886C>T (p.Leu1296Phe) c.3175C>T (p.Leu1059Phe) c.3597+887C>T (n.3597+887C>T) c.3547+1426C>T (n.3547+1426C>T) c.3112C>T (p.Leu1038Phe) c.3079C>T (p.Leu1027Phe) c.3292C>T (p.Leu1098Phe) | dbSNP |
| X | g.53234896G>C | CA413140841 | IQSEC2 | c.3949C>G (p.Leu1317Val) c.1453+887C>G c.962+887C>G c.316+1426C>G (n.316+1426C>G) c.514+1426C>G (n.514+1426C>G) c.*275C>G (n.*275C>G) c.3790C>G (p.Leu1264Val) c.3760C>G (p.Leu1254Val) c.3886C>G (p.Leu1296Val) c.3175C>G (p.Leu1059Val) c.3597+887C>G (n.3597+887C>G) c.3547+1426C>G (n.3547+1426C>G) c.3112C>G (p.Leu1038Val) c.3079C>G (p.Leu1027Val) c.3292C>G (p.Leu1098Val) | |
| X | g.53234896G= | CA2429770629 | IQSEC2 | c.3949C= (p.Leu1317=) c.1453+887C= c.962+887C= c.316+1426C= (n.316+1426C=) c.514+1426C= (n.514+1426C=) c.*275C= (n.*275C=) c.3790C= (p.Leu1264=) c.3760C= (p.Leu1254=) c.3886C= (p.Leu1296=) c.3175C= (p.Leu1059=) c.3597+887C= (n.3597+887C=) c.3547+1426C= (n.3547+1426C=) c.3112C= (p.Leu1038=) c.3079C= (p.Leu1027=) c.3292C= (p.Leu1098=) | |
| X | g.53234896G>T | CA413140844 | IQSEC2 | c.3949C>A (p.Leu1317Ile) c.1453+887C>A c.962+887C>A c.316+1426C>A (n.316+1426C>A) c.514+1426C>A (n.514+1426C>A) c.*275C>A (n.*275C>A) c.3790C>A (p.Leu1264Ile) c.3760C>A (p.Leu1254Ile) c.3886C>A (p.Leu1296Ile) c.3175C>A (p.Leu1059Ile) c.3597+887C>A (n.3597+887C>A) c.3547+1426C>A (n.3547+1426C>A) c.3112C>A (p.Leu1038Ile) c.3079C>A (p.Leu1027Ile) c.3292C>A (p.Leu1098Ile) | |
| X | g.53234897C>A | CA413140847 | IQSEC2 | c.3948G>T (p.Lys1316Asn) c.1453+886G>T c.962+886G>T c.316+1425G>T (n.316+1425G>T) c.514+1425G>T (n.514+1425G>T) c.*274G>T (n.*274G>T) c.3789G>T (p.Lys1263Asn) c.3759G>T (p.Lys1253Asn) c.3885G>T (p.Lys1295Asn) c.3174G>T (p.Lys1058Asn) c.3597+886G>T (n.3597+886G>T) c.3547+1425G>T (n.3547+1425G>T) c.3111G>T (p.Lys1037Asn) c.3078G>T (p.Lys1026Asn) c.3291G>T (p.Lys1097Asn) | |
| X | g.53234897C>G | CA413140849 | IQSEC2 | c.3948G>C (p.Lys1316Asn) c.1453+886G>C c.962+886G>C c.316+1425G>C (n.316+1425G>C) c.514+1425G>C (n.514+1425G>C) c.*274G>C (n.*274G>C) c.3789G>C (p.Lys1263Asn) c.3759G>C (p.Lys1253Asn) c.3885G>C (p.Lys1295Asn) c.3174G>C (p.Lys1058Asn) c.3597+886G>C (n.3597+886G>C) c.3547+1425G>C (n.3547+1425G>C) c.3111G>C (p.Lys1037Asn) c.3078G>C (p.Lys1026Asn) c.3291G>C (p.Lys1097Asn) | |
| X | g.53234897C>T | CA516673551 | IQSEC2 | c.3948G>A (p.Lys1316=) c.1453+886G>A c.962+886G>A c.316+1425G>A (n.316+1425G>A) c.514+1425G>A (n.514+1425G>A) c.*274G>A (n.*274G>A) c.3789G>A (p.Lys1263=) c.3759G>A (p.Lys1253=) c.3885G>A (p.Lys1295=) c.3174G>A (p.Lys1058=) c.3597+886G>A (n.3597+886G>A) c.3547+1425G>A (n.3547+1425G>A) c.3111G>A (p.Lys1037=) c.3078G>A (p.Lys1026=) c.3291G>A (p.Lys1097=) | gnomAD v4 |
| X | g.53234898T>A | CA413140857 | IQSEC2 | c.3947A>T (p.Lys1316Met) c.1453+885A>T c.962+885A>T c.316+1424A>T (n.316+1424A>T) c.514+1424A>T (n.514+1424A>T) c.*273A>T (n.*273A>T) c.3788A>T (p.Lys1263Met) c.3758A>T (p.Lys1253Met) c.3884A>T (p.Lys1295Met) c.3173A>T (p.Lys1058Met) c.3597+885A>T (n.3597+885A>T) c.3547+1424A>T (n.3547+1424A>T) c.3110A>T (p.Lys1037Met) c.3077A>T (p.Lys1026Met) c.3290A>T (p.Lys1097Met) | |
| X | g.53234898T>C | CA413140853 | IQSEC2 | c.3947A>G (p.Lys1316Arg) c.1453+885A>G c.962+885A>G c.316+1424A>G (n.316+1424A>G) c.514+1424A>G (n.514+1424A>G) c.*273A>G (n.*273A>G) c.3788A>G (p.Lys1263Arg) c.3758A>G (p.Lys1253Arg) c.3884A>G (p.Lys1295Arg) c.3173A>G (p.Lys1058Arg) c.3597+885A>G (n.3597+885A>G) c.3547+1424A>G (n.3547+1424A>G) c.3110A>G (p.Lys1037Arg) c.3077A>G (p.Lys1026Arg) c.3290A>G (p.Lys1097Arg) | dbSNP |
| X | g.53234898T>G | CA413140854 | IQSEC2 | c.3947A>C (p.Lys1316Thr) c.1453+885A>C c.962+885A>C c.316+1424A>C (n.316+1424A>C) c.514+1424A>C (n.514+1424A>C) c.*273A>C (n.*273A>C) c.3788A>C (p.Lys1263Thr) c.3758A>C (p.Lys1253Thr) c.3884A>C (p.Lys1295Thr) c.3173A>C (p.Lys1058Thr) c.3597+885A>C (n.3597+885A>C) c.3547+1424A>C (n.3547+1424A>C) c.3110A>C (p.Lys1037Thr) c.3077A>C (p.Lys1026Thr) c.3290A>C (p.Lys1097Thr) | |
| X | g.53234898T= | CA2429770630 | IQSEC2 | c.3947A= (p.Lys1316=) c.1453+885A= c.962+885A= c.316+1424A= (n.316+1424A=) c.514+1424A= (n.514+1424A=) c.*273A= (n.*273A=) c.3788A= (p.Lys1263=) c.3758A= (p.Lys1253=) c.3884A= (p.Lys1295=) c.3173A= (p.Lys1058=) c.3597+885A= (n.3597+885A=) c.3547+1424A= (n.3547+1424A=) c.3110A= (p.Lys1037=) c.3077A= (p.Lys1026=) c.3290A= (p.Lys1097=) | |
| X | g.53234899T>A | CA413140861 | IQSEC2 | c.3946A>T (p.Lys1316Ter) c.1453+884A>T c.962+884A>T c.316+1423A>T (n.316+1423A>T) c.514+1423A>T (n.514+1423A>T) c.*272A>T (n.*272A>T) c.3787A>T (p.Lys1263Ter) c.3757A>T (p.Lys1253Ter) c.3883A>T (p.Lys1295Ter) c.3172A>T (p.Lys1058Ter) c.3597+884A>T (n.3597+884A>T) c.3547+1423A>T (n.3547+1423A>T) c.3109A>T (p.Lys1037Ter) c.3076A>T (p.Lys1026Ter) c.3289A>T (p.Lys1097Ter) | |
| X | g.53234899T>C | CA413140863 | IQSEC2 | c.3946A>G (p.Lys1316Glu) c.1453+884A>G c.962+884A>G c.316+1423A>G (n.316+1423A>G) c.514+1423A>G (n.514+1423A>G) c.*272A>G (n.*272A>G) c.3787A>G (p.Lys1263Glu) c.3757A>G (p.Lys1253Glu) c.3883A>G (p.Lys1295Glu) c.3172A>G (p.Lys1058Glu) c.3597+884A>G (n.3597+884A>G) c.3547+1423A>G (n.3547+1423A>G) c.3109A>G (p.Lys1037Glu) c.3076A>G (p.Lys1026Glu) c.3289A>G (p.Lys1097Glu) | |
| X | g.53234899T>G | CA413140866 | IQSEC2 | c.3946A>C (p.Lys1316Gln) c.1453+884A>C c.962+884A>C c.316+1423A>C (n.316+1423A>C) c.514+1423A>C (n.514+1423A>C) c.*272A>C (n.*272A>C) c.3787A>C (p.Lys1263Gln) c.3757A>C (p.Lys1253Gln) c.3883A>C (p.Lys1295Gln) c.3172A>C (p.Lys1058Gln) c.3597+884A>C (n.3597+884A>C) c.3547+1423A>C (n.3547+1423A>C) c.3109A>C (p.Lys1037Gln) c.3076A>C (p.Lys1026Gln) c.3289A>C (p.Lys1097Gln) | |
| X | g.53234900G>A | CA516673556 | IQSEC2 | c.3945C>T (p.Ser1315=) c.1453+883C>T c.962+883C>T c.316+1422C>T (n.316+1422C>T) c.514+1422C>T (n.514+1422C>T) c.*271C>T (n.*271C>T) c.3786C>T (p.Ser1262=) c.3756C>T (p.Ser1252=) c.3882C>T (p.Ser1294=) c.3171C>T (p.Ser1057=) c.3597+883C>T (n.3597+883C>T) c.3547+1422C>T (n.3547+1422C>T) c.3108C>T (p.Ser1036=) c.3075C>T (p.Ser1025=) c.3288C>T (p.Ser1096=) | |
| X | g.53234900G>C | CA516673557 | IQSEC2 | c.3945C>G (p.Ser1315=) c.1453+883C>G c.962+883C>G c.316+1422C>G (n.316+1422C>G) c.514+1422C>G (n.514+1422C>G) c.*271C>G (n.*271C>G) c.3786C>G (p.Ser1262=) c.3756C>G (p.Ser1252=) c.3882C>G (p.Ser1294=) c.3171C>G (p.Ser1057=) c.3597+883C>G (n.3597+883C>G) c.3547+1422C>G (n.3547+1422C>G) c.3108C>G (p.Ser1036=) c.3075C>G (p.Ser1025=) c.3288C>G (p.Ser1096=) | |
| X | g.53234900G>T | CA516673558 | IQSEC2 | c.3945C>A (p.Ser1315=) c.1453+883C>A c.962+883C>A c.316+1422C>A (n.316+1422C>A) c.514+1422C>A (n.514+1422C>A) c.*271C>A (n.*271C>A) c.3786C>A (p.Ser1262=) c.3756C>A (p.Ser1252=) c.3882C>A (p.Ser1294=) c.3171C>A (p.Ser1057=) c.3597+883C>A (n.3597+883C>A) c.3547+1422C>A (n.3547+1422C>A) c.3108C>A (p.Ser1036=) c.3075C>A (p.Ser1025=) c.3288C>A (p.Ser1096=) | |
| X | g.53234901G>A | CA413140869 | IQSEC2 | c.3944C>T (p.Ser1315Phe) c.1453+882C>T c.962+882C>T c.316+1421C>T (n.316+1421C>T) c.514+1421C>T (n.514+1421C>T) c.*270C>T (n.*270C>T) c.3785C>T (p.Ser1262Phe) c.3755C>T (p.Ser1252Phe) c.3881C>T (p.Ser1294Phe) c.3170C>T (p.Ser1057Phe) c.3597+882C>T (n.3597+882C>T) c.3547+1421C>T (n.3547+1421C>T) c.3107C>T (p.Ser1036Phe) c.3074C>T (p.Ser1025Phe) c.3287C>T (p.Ser1096Phe) | |
| X | g.53234901G>C | CA413140871 | IQSEC2 | c.3944C>G (p.Ser1315Cys) c.1453+882C>G c.962+882C>G c.316+1421C>G (n.316+1421C>G) c.514+1421C>G (n.514+1421C>G) c.*270C>G (n.*270C>G) c.3785C>G (p.Ser1262Cys) c.3755C>G (p.Ser1252Cys) c.3881C>G (p.Ser1294Cys) c.3170C>G (p.Ser1057Cys) c.3597+882C>G (n.3597+882C>G) c.3547+1421C>G (n.3547+1421C>G) c.3107C>G (p.Ser1036Cys) c.3074C>G (p.Ser1025Cys) c.3287C>G (p.Ser1096Cys) | |
| X | g.53234901G>T | CA413140873 | IQSEC2 | c.3944C>A (p.Ser1315Tyr) c.1453+882C>A c.962+882C>A c.316+1421C>A (n.316+1421C>A) c.514+1421C>A (n.514+1421C>A) c.*270C>A (n.*270C>A) c.3785C>A (p.Ser1262Tyr) c.3755C>A (p.Ser1252Tyr) c.3881C>A (p.Ser1294Tyr) c.3170C>A (p.Ser1057Tyr) c.3597+882C>A (n.3597+882C>A) c.3547+1421C>A (n.3547+1421C>A) c.3107C>A (p.Ser1036Tyr) c.3074C>A (p.Ser1025Tyr) c.3287C>A (p.Ser1096Tyr) | gnomAD v4 |
| X | g.53234902A= | CA2429770631 | IQSEC2 | c.3943T= (p.Ser1315=) c.1453+881T= c.962+881T= c.316+1420T= (n.316+1420T=) c.514+1420T= (n.514+1420T=) c.*269T= (n.*269T=) c.3784T= (p.Ser1262=) c.3754T= (p.Ser1252=) c.3880T= (p.Ser1294=) c.3169T= (p.Ser1057=) c.3597+881T= (n.3597+881T=) c.3547+1420T= (n.3547+1420T=) c.3106T= (p.Ser1036=) c.3073T= (p.Ser1025=) c.3286T= (p.Ser1096=) | |
| X | g.53234902A>C | CA413140876 | IQSEC2 | c.3943T>G (p.Ser1315Ala) c.1453+881T>G c.962+881T>G c.316+1420T>G (n.316+1420T>G) c.514+1420T>G (n.514+1420T>G) c.*269T>G (n.*269T>G) c.3784T>G (p.Ser1262Ala) c.3754T>G (p.Ser1252Ala) c.3880T>G (p.Ser1294Ala) c.3169T>G (p.Ser1057Ala) c.3597+881T>G (n.3597+881T>G) c.3547+1420T>G (n.3547+1420T>G) c.3106T>G (p.Ser1036Ala) c.3073T>G (p.Ser1025Ala) c.3286T>G (p.Ser1096Ala) | |
| X | g.53234902A>G | CA413140879 | IQSEC2 | c.3943T>C (p.Ser1315Pro) c.1453+881T>C c.962+881T>C c.316+1420T>C (n.316+1420T>C) c.514+1420T>C (n.514+1420T>C) c.*269T>C (n.*269T>C) c.3784T>C (p.Ser1262Pro) c.3754T>C (p.Ser1252Pro) c.3880T>C (p.Ser1294Pro) c.3169T>C (p.Ser1057Pro) c.3597+881T>C (n.3597+881T>C) c.3547+1420T>C (n.3547+1420T>C) c.3106T>C (p.Ser1036Pro) c.3073T>C (p.Ser1025Pro) c.3286T>C (p.Ser1096Pro) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53234902A>T | CA413140881 | IQSEC2 | c.3943T>A (p.Ser1315Thr) c.1453+881T>A c.962+881T>A c.316+1420T>A (n.316+1420T>A) c.514+1420T>A (n.514+1420T>A) c.*269T>A (n.*269T>A) c.3784T>A (p.Ser1262Thr) c.3754T>A (p.Ser1252Thr) c.3880T>A (p.Ser1294Thr) c.3169T>A (p.Ser1057Thr) c.3597+881T>A (n.3597+881T>A) c.3547+1420T>A (n.3547+1420T>A) c.3106T>A (p.Ser1036Thr) c.3073T>A (p.Ser1025Thr) c.3286T>A (p.Ser1096Thr) | |
| X | g.53234903C>A | CA413140884 | IQSEC2 | c.3942G>T (p.Gln1314His) c.1453+880G>T c.962+880G>T c.316+1419G>T (n.316+1419G>T) c.514+1419G>T (n.514+1419G>T) c.*268G>T (n.*268G>T) c.3783G>T (p.Gln1261His) c.3753G>T (p.Gln1251His) c.3879G>T (p.Gln1293His) c.3168G>T (p.Gln1056His) c.3597+880G>T (n.3597+880G>T) c.3547+1419G>T (n.3547+1419G>T) c.3105G>T (p.Gln1035His) c.3072G>T (p.Gln1024His) c.3285G>T (p.Gln1095His) | |
| X | g.53234903C>G | CA413140887 | IQSEC2 | c.3942G>C (p.Gln1314His) c.1453+880G>C c.962+880G>C c.316+1419G>C (n.316+1419G>C) c.514+1419G>C (n.514+1419G>C) c.*268G>C (n.*268G>C) c.3783G>C (p.Gln1261His) c.3753G>C (p.Gln1251His) c.3879G>C (p.Gln1293His) c.3168G>C (p.Gln1056His) c.3597+880G>C (n.3597+880G>C) c.3547+1419G>C (n.3547+1419G>C) c.3105G>C (p.Gln1035His) c.3072G>C (p.Gln1024His) c.3285G>C (p.Gln1095His) | |
| X | g.53234903C>T | CA516673565 | IQSEC2 | c.3942G>A (p.Gln1314=) c.1453+880G>A c.962+880G>A c.316+1419G>A (n.316+1419G>A) c.514+1419G>A (n.514+1419G>A) c.*268G>A (n.*268G>A) c.3783G>A (p.Gln1261=) c.3753G>A (p.Gln1251=) c.3879G>A (p.Gln1293=) c.3168G>A (p.Gln1056=) c.3597+880G>A (n.3597+880G>A) c.3547+1419G>A (n.3547+1419G>A) c.3105G>A (p.Gln1035=) c.3072G>A (p.Gln1024=) c.3285G>A (p.Gln1095=) | |
| X | g.53234904T>A | CA413140893 | IQSEC2 | c.3941A>T (p.Gln1314Leu) c.1453+879A>T c.962+879A>T c.316+1418A>T (n.316+1418A>T) c.514+1418A>T (n.514+1418A>T) c.*267A>T (n.*267A>T) c.3782A>T (p.Gln1261Leu) c.3752A>T (p.Gln1251Leu) c.3878A>T (p.Gln1293Leu) c.3167A>T (p.Gln1056Leu) c.3597+879A>T (n.3597+879A>T) c.3547+1418A>T (n.3547+1418A>T) c.3104A>T (p.Gln1035Leu) c.3071A>T (p.Gln1024Leu) c.3284A>T (p.Gln1095Leu) | |
| X | g.53234904T>C | CA413140896 | IQSEC2 | c.3941A>G (p.Gln1314Arg) c.1453+879A>G c.962+879A>G c.316+1418A>G (n.316+1418A>G) c.514+1418A>G (n.514+1418A>G) c.*267A>G (n.*267A>G) c.3782A>G (p.Gln1261Arg) c.3752A>G (p.Gln1251Arg) c.3878A>G (p.Gln1293Arg) c.3167A>G (p.Gln1056Arg) c.3597+879A>G (n.3597+879A>G) c.3547+1418A>G (n.3547+1418A>G) c.3104A>G (p.Gln1035Arg) c.3071A>G (p.Gln1024Arg) c.3284A>G (p.Gln1095Arg) | |
| X | g.53234904T>G | CA413140891 | IQSEC2 | c.3941A>C (p.Gln1314Pro) c.1453+879A>C c.962+879A>C c.316+1418A>C (n.316+1418A>C) c.514+1418A>C (n.514+1418A>C) c.*267A>C (n.*267A>C) c.3782A>C (p.Gln1261Pro) c.3752A>C (p.Gln1251Pro) c.3878A>C (p.Gln1293Pro) c.3167A>C (p.Gln1056Pro) c.3597+879A>C (n.3597+879A>C) c.3547+1418A>C (n.3547+1418A>C) c.3104A>C (p.Gln1035Pro) c.3071A>C (p.Gln1024Pro) c.3284A>C (p.Gln1095Pro) | |
| X | g.53234905G>A | CA413140905 | IQSEC2 | c.3940C>T (p.Gln1314Ter) c.1453+878C>T c.962+878C>T c.316+1417C>T (n.316+1417C>T) c.514+1417C>T (n.514+1417C>T) c.*266C>T (n.*266C>T) c.3781C>T (p.Gln1261Ter) c.3751C>T (p.Gln1251Ter) c.3877C>T (p.Gln1293Ter) c.3166C>T (p.Gln1056Ter) c.3597+878C>T (n.3597+878C>T) c.3547+1417C>T (n.3547+1417C>T) c.3103C>T (p.Gln1035Ter) c.3070C>T (p.Gln1024Ter) c.3283C>T (p.Gln1095Ter) | ClinVar |
| X | g.53234905G>C | CA413140899 | IQSEC2 | c.3940C>G (p.Gln1314Glu) c.1453+878C>G c.962+878C>G c.316+1417C>G (n.316+1417C>G) c.514+1417C>G (n.514+1417C>G) c.*266C>G (n.*266C>G) c.3781C>G (p.Gln1261Glu) c.3751C>G (p.Gln1251Glu) c.3877C>G (p.Gln1293Glu) c.3166C>G (p.Gln1056Glu) c.3597+878C>G (n.3597+878C>G) c.3547+1417C>G (n.3547+1417C>G) c.3103C>G (p.Gln1035Glu) c.3070C>G (p.Gln1024Glu) c.3283C>G (p.Gln1095Glu) | |
| X | g.53234905G>T | CA413140902 | IQSEC2 | c.3940C>A (p.Gln1314Lys) c.1453+878C>A c.962+878C>A c.316+1417C>A (n.316+1417C>A) c.514+1417C>A (n.514+1417C>A) c.*266C>A (n.*266C>A) c.3781C>A (p.Gln1261Lys) c.3751C>A (p.Gln1251Lys) c.3877C>A (p.Gln1293Lys) c.3166C>A (p.Gln1056Lys) c.3597+878C>A (n.3597+878C>A) c.3547+1417C>A (n.3547+1417C>A) c.3103C>A (p.Gln1035Lys) c.3070C>A (p.Gln1024Lys) c.3283C>A (p.Gln1095Lys) | |
| X | g.53234906C>A | CA516673569 | IQSEC2 | c.3939G>T (p.Gly1313=) c.1453+877G>T c.962+877G>T c.316+1416G>T (n.316+1416G>T) c.514+1416G>T (n.514+1416G>T) c.*265G>T (n.*265G>T) c.3780G>T (p.Gly1260=) c.3750G>T (p.Gly1250=) c.3876G>T (p.Gly1292=) c.3165G>T (p.Gly1055=) c.3597+877G>T (n.3597+877G>T) c.3547+1416G>T (n.3547+1416G>T) c.3102G>T (p.Gly1034=) c.3069G>T (p.Gly1023=) c.3282G>T (p.Gly1094=) | |
| X | g.53234906C>G | CA516673571 | IQSEC2 | c.3939G>C (p.Gly1313=) c.1453+877G>C c.962+877G>C c.316+1416G>C (n.316+1416G>C) c.514+1416G>C (n.514+1416G>C) c.*265G>C (n.*265G>C) c.3780G>C (p.Gly1260=) c.3750G>C (p.Gly1250=) c.3876G>C (p.Gly1292=) c.3165G>C (p.Gly1055=) c.3597+877G>C (n.3597+877G>C) c.3547+1416G>C (n.3547+1416G>C) c.3102G>C (p.Gly1034=) c.3069G>C (p.Gly1023=) c.3282G>C (p.Gly1094=) | |
| X | g.53234906C>T | CA516673574 | IQSEC2 | c.3939G>A (p.Gly1313=) c.1453+877G>A c.962+877G>A c.316+1416G>A (n.316+1416G>A) c.514+1416G>A (n.514+1416G>A) c.*265G>A (n.*265G>A) c.3780G>A (p.Gly1260=) c.3750G>A (p.Gly1250=) c.3876G>A (p.Gly1292=) c.3165G>A (p.Gly1055=) c.3597+877G>A (n.3597+877G>A) c.3547+1416G>A (n.3547+1416G>A) c.3102G>A (p.Gly1034=) c.3069G>A (p.Gly1023=) c.3282G>A (p.Gly1094=) | gnomAD v4 |
| X | g.53234908del | CA2695234288 | IQSEC2 | c.3939del (p.Gln1314SerfsTer?) c.1453+877del c.962+877del c.316+1416del (n.316+1416del) c.514+1416del (n.514+1416del) c.*265del (n.*265del) c.3780del (p.Gln1261SerfsTer?) c.3750del (p.Gln1251SerfsTer?) c.3876del (p.Gln1293SerfsTer?) c.3165del (p.Gln1056SerfsTer?) c.3597+877del (n.3597+877del) c.3547+1416del (n.3547+1416del) c.3102del (p.Gln1035SerfsTer?) c.3069del (p.Gln1024SerfsTer?) c.3282del (p.Gln1095SerfsTer?) | |
| X | g.53234907C>A | CA413140907 | IQSEC2 | c.3938G>T (p.Gly1313Val) c.1453+876G>T c.962+876G>T c.316+1415G>T (n.316+1415G>T) c.514+1415G>T (n.514+1415G>T) c.*264G>T (n.*264G>T) c.3779G>T (p.Gly1260Val) c.3749G>T (p.Gly1250Val) c.3875G>T (p.Gly1292Val) c.3164G>T (p.Gly1055Val) c.3597+876G>T (n.3597+876G>T) c.3547+1415G>T (n.3547+1415G>T) c.3101G>T (p.Gly1034Val) c.3068G>T (p.Gly1023Val) c.3281G>T (p.Gly1094Val) |