| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53234794_53234820del | CA2693794287 | IQSEC2 | c.4026_4052del (p.Leu1343_Pro1351del) c.1453+964_1453+990del c.962+964_962+990del c.316+1503_316+1529del (n.316+1503_316+1529del) c.514+1503_514+1529del (n.514+1503_514+1529del) c.*352_*378del (n.*352_*378del) c.3867_3893del (p.Leu1290_Pro1298del) c.3837_3863del (p.Leu1280_Pro1288del) c.3963_3989del (p.Leu1322_Pro1330del) c.3252_3278del (p.Leu1085_Pro1093del) c.3597+964_3597+990del (n.3597+964_3597+990del) c.3547+1503_3547+1529del (n.3547+1503_3547+1529del) c.3189_3215del (p.Leu1064_Pro1072del) c.3156_3182del (p.Leu1053_Pro1061del) c.3369_3395del (p.Leu1124_Pro1132del) | gnomAD v4 |
| X | g.53234807_53234833dup | CA2693794288 | IQSEC2 | c.4024_4050dup (p.Pro1350_Pro1351insSerLeuProProProProGlnGlnPro) c.1453+962_1453+988dup c.962+962_962+988dup c.316+1501_316+1527dup (n.316+1501_316+1527dup) c.514+1501_514+1527dup (n.514+1501_514+1527dup) c.*350_*376dup (n.*350_*376dup) c.3865_3891dup (p.Pro1297_Pro1298insSerLeuProProProProGlnGlnPro) c.3835_3861dup (p.Pro1287_Pro1288insSerLeuProProProProGlnGlnPro) c.3961_3987dup (p.Pro1329_Pro1330insSerLeuProProProProGlnGlnPro) c.3250_3276dup (p.Pro1092_Pro1093insSerLeuProProProProGlnGlnPro) c.3597+962_3597+988dup (n.3597+962_3597+988dup) c.3547+1501_3547+1527dup (n.3547+1501_3547+1527dup) c.3187_3213dup (p.Pro1071_Pro1072insSerLeuProProProProGlnGlnPro) c.3154_3180dup (p.Pro1060_Pro1061insSerLeuProProProProGlnGlnPro) c.3367_3393dup (p.Pro1131_Pro1132insSerLeuProProProProGlnGlnPro) | gnomAD v4 |
| X | g.53234807_53234833del | CA2693794289 | IQSEC2 | c.4024_4050del (p.Ser1342_Pro1350del) c.1453+962_1453+988del c.962+962_962+988del c.316+1501_316+1527del (n.316+1501_316+1527del) c.514+1501_514+1527del (n.514+1501_514+1527del) c.*350_*376del (n.*350_*376del) c.3865_3891del (p.Ser1289_Pro1297del) c.3835_3861del (p.Ser1279_Pro1287del) c.3961_3987del (p.Ser1321_Pro1329del) c.3250_3276del (p.Ser1084_Pro1092del) c.3597+962_3597+988del (n.3597+962_3597+988del) c.3547+1501_3547+1527del (n.3547+1501_3547+1527del) c.3187_3213del (p.Ser1063_Pro1071del) c.3154_3180del (p.Ser1052_Pro1060del) c.3367_3393del (p.Ser1123_Pro1131del) | gnomAD v4 |
| X | g.53234799_53234804del | CA2562300609 | IQSEC2 | c.4041_4046del (p.Gln1348_Gln1349del) c.1453+979_1453+984del c.962+979_962+984del c.316+1518_316+1523del (n.316+1518_316+1523del) c.514+1518_514+1523del (n.514+1518_514+1523del) c.*367_*372del (n.*367_*372del) c.3882_3887del (p.Gln1295_Gln1296del) c.3852_3857del (p.Gln1285_Gln1286del) c.3978_3983del (p.Gln1327_Gln1328del) c.3267_3272del (p.Gln1090_Gln1091del) c.3597+979_3597+984del (n.3597+979_3597+984del) c.3547+1518_3547+1523del (n.3547+1518_3547+1523del) c.3204_3209del (p.Gln1069_Gln1070del) c.3171_3176del (p.Gln1058_Gln1059del) c.3384_3389del (p.Gln1129_Gln1130del) | |
| X | g.53234800G>A | CA16621439 | IQSEC2 | c.4045C>T (p.Gln1349Ter) c.1453+983C>T c.962+983C>T c.316+1522C>T (n.316+1522C>T) c.514+1522C>T (n.514+1522C>T) c.*371C>T (n.*371C>T) c.3886C>T (p.Gln1296Ter) c.3856C>T (p.Gln1286Ter) c.3982C>T (p.Gln1328Ter) c.3271C>T (p.Gln1091Ter) c.3597+983C>T (n.3597+983C>T) c.3547+1522C>T (n.3547+1522C>T) c.3208C>T (p.Gln1070Ter) c.3175C>T (p.Gln1059Ter) c.3388C>T (p.Gln1130Ter) | ClinVar dbSNP |
| X | g.53234800G>C | CA413140283 | IQSEC2 | c.4045C>G (p.Gln1349Glu) c.1453+983C>G c.962+983C>G c.316+1522C>G (n.316+1522C>G) c.514+1522C>G (n.514+1522C>G) c.*371C>G (n.*371C>G) c.3886C>G (p.Gln1296Glu) c.3856C>G (p.Gln1286Glu) c.3982C>G (p.Gln1328Glu) c.3271C>G (p.Gln1091Glu) c.3597+983C>G (n.3597+983C>G) c.3547+1522C>G (n.3547+1522C>G) c.3208C>G (p.Gln1070Glu) c.3175C>G (p.Gln1059Glu) c.3388C>G (p.Gln1130Glu) | |
| X | g.53234800G= | CA2429770598 | IQSEC2 | c.4045C= (p.Gln1349=) c.1453+983C= c.962+983C= c.316+1522C= (n.316+1522C=) c.514+1522C= (n.514+1522C=) c.*371C= (n.*371C=) c.3886C= (p.Gln1296=) c.3856C= (p.Gln1286=) c.3982C= (p.Gln1328=) c.3271C= (p.Gln1091=) c.3597+983C= (n.3597+983C=) c.3547+1522C= (n.3547+1522C=) c.3208C= (p.Gln1070=) c.3175C= (p.Gln1059=) c.3388C= (p.Gln1130=) | |
| X | g.53234800G>T | CA413140286 | IQSEC2 | c.4045C>A (p.Gln1349Lys) c.1453+983C>A c.962+983C>A c.316+1522C>A (n.316+1522C>A) c.514+1522C>A (n.514+1522C>A) c.*371C>A (n.*371C>A) c.3886C>A (p.Gln1296Lys) c.3856C>A (p.Gln1286Lys) c.3982C>A (p.Gln1328Lys) c.3271C>A (p.Gln1091Lys) c.3597+983C>A (n.3597+983C>A) c.3547+1522C>A (n.3547+1522C>A) c.3208C>A (p.Gln1070Lys) c.3175C>A (p.Gln1059Lys) c.3388C>A (p.Gln1130Lys) | gnomAD v4 |
| X | g.53234801C>A | CA413140288 | IQSEC2 | c.4044G>T (p.Gln1348His) c.1453+982G>T c.962+982G>T c.316+1521G>T (n.316+1521G>T) c.514+1521G>T (n.514+1521G>T) c.*370G>T (n.*370G>T) c.3885G>T (p.Gln1295His) c.3855G>T (p.Gln1285His) c.3981G>T (p.Gln1327His) c.3270G>T (p.Gln1090His) c.3597+982G>T (n.3597+982G>T) c.3547+1521G>T (n.3547+1521G>T) c.3207G>T (p.Gln1069His) c.3174G>T (p.Gln1058His) c.3387G>T (p.Gln1129His) | |
| X | g.53234801C>G | CA413140290 | IQSEC2 | c.4044G>C (p.Gln1348His) c.1453+982G>C c.962+982G>C c.316+1521G>C (n.316+1521G>C) c.514+1521G>C (n.514+1521G>C) c.*370G>C (n.*370G>C) c.3885G>C (p.Gln1295His) c.3855G>C (p.Gln1285His) c.3981G>C (p.Gln1327His) c.3270G>C (p.Gln1090His) c.3597+982G>C (n.3597+982G>C) c.3547+1521G>C (n.3547+1521G>C) c.3207G>C (p.Gln1069His) c.3174G>C (p.Gln1058His) c.3387G>C (p.Gln1129His) | |
| X | g.53234801C>T | CA516673643 | IQSEC2 | c.4044G>A (p.Gln1348=) c.1453+982G>A c.962+982G>A c.316+1521G>A (n.316+1521G>A) c.514+1521G>A (n.514+1521G>A) c.*370G>A (n.*370G>A) c.3885G>A (p.Gln1295=) c.3855G>A (p.Gln1285=) c.3981G>A (p.Gln1327=) c.3270G>A (p.Gln1090=) c.3597+982G>A (n.3597+982G>A) c.3547+1521G>A (n.3547+1521G>A) c.3207G>A (p.Gln1069=) c.3174G>A (p.Gln1058=) c.3387G>A (p.Gln1129=) | gnomAD v4 |
| X | g.53234802T>A | CA413140291 | IQSEC2 | c.4043A>T (p.Gln1348Leu) c.1453+981A>T c.962+981A>T c.316+1520A>T (n.316+1520A>T) c.514+1520A>T (n.514+1520A>T) c.*369A>T (n.*369A>T) c.3884A>T (p.Gln1295Leu) c.3854A>T (p.Gln1285Leu) c.3980A>T (p.Gln1327Leu) c.3269A>T (p.Gln1090Leu) c.3597+981A>T (n.3597+981A>T) c.3547+1520A>T (n.3547+1520A>T) c.3206A>T (p.Gln1069Leu) c.3173A>T (p.Gln1058Leu) c.3386A>T (p.Gln1129Leu) | ClinVar |
| X | g.53234802T>C | CA413140293 | IQSEC2 | c.4043A>G (p.Gln1348Arg) c.1453+981A>G c.962+981A>G c.316+1520A>G (n.316+1520A>G) c.514+1520A>G (n.514+1520A>G) c.*369A>G (n.*369A>G) c.3884A>G (p.Gln1295Arg) c.3854A>G (p.Gln1285Arg) c.3980A>G (p.Gln1327Arg) c.3269A>G (p.Gln1090Arg) c.3597+981A>G (n.3597+981A>G) c.3547+1520A>G (n.3547+1520A>G) c.3206A>G (p.Gln1069Arg) c.3173A>G (p.Gln1058Arg) c.3386A>G (p.Gln1129Arg) | |
| X | g.53234802T>G | CA413140295 | IQSEC2 | c.4043A>C (p.Gln1348Pro) c.1453+981A>C c.962+981A>C c.316+1520A>C (n.316+1520A>C) c.514+1520A>C (n.514+1520A>C) c.*369A>C (n.*369A>C) c.3884A>C (p.Gln1295Pro) c.3854A>C (p.Gln1285Pro) c.3980A>C (p.Gln1327Pro) c.3269A>C (p.Gln1090Pro) c.3597+981A>C (n.3597+981A>C) c.3547+1520A>C (n.3547+1520A>C) c.3206A>C (p.Gln1069Pro) c.3173A>C (p.Gln1058Pro) c.3386A>C (p.Gln1129Pro) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53234802T= | CA2429770599 | IQSEC2 | c.4043A= (p.Gln1348=) c.1453+981A= c.962+981A= c.316+1520A= (n.316+1520A=) c.514+1520A= (n.514+1520A=) c.*369A= (n.*369A=) c.3884A= (p.Gln1295=) c.3854A= (p.Gln1285=) c.3980A= (p.Gln1327=) c.3269A= (p.Gln1090=) c.3597+981A= (n.3597+981A=) c.3547+1520A= (n.3547+1520A=) c.3206A= (p.Gln1069=) c.3173A= (p.Gln1058=) c.3386A= (p.Gln1129=) | |
| X | g.53234803G>A | CA413140297 | IQSEC2 | c.4042C>T (p.Gln1348Ter) c.1453+980C>T c.962+980C>T c.316+1519C>T (n.316+1519C>T) c.514+1519C>T (n.514+1519C>T) c.*368C>T (n.*368C>T) c.3883C>T (p.Gln1295Ter) c.3853C>T (p.Gln1285Ter) c.3979C>T (p.Gln1327Ter) c.3268C>T (p.Gln1090Ter) c.3597+980C>T (n.3597+980C>T) c.3547+1519C>T (n.3547+1519C>T) c.3205C>T (p.Gln1069Ter) c.3172C>T (p.Gln1058Ter) c.3385C>T (p.Gln1129Ter) | |
| X | g.53234803G>C | CA413140298 | IQSEC2 | c.4042C>G (p.Gln1348Glu) c.1453+980C>G c.962+980C>G c.316+1519C>G (n.316+1519C>G) c.514+1519C>G (n.514+1519C>G) c.*368C>G (n.*368C>G) c.3883C>G (p.Gln1295Glu) c.3853C>G (p.Gln1285Glu) c.3979C>G (p.Gln1327Glu) c.3268C>G (p.Gln1090Glu) c.3597+980C>G (n.3597+980C>G) c.3547+1519C>G (n.3547+1519C>G) c.3205C>G (p.Gln1069Glu) c.3172C>G (p.Gln1058Glu) c.3385C>G (p.Gln1129Glu) | |
| X | g.53234803G>T | CA413140300 | IQSEC2 | c.4042C>A (p.Gln1348Lys) c.1453+980C>A c.962+980C>A c.316+1519C>A (n.316+1519C>A) c.514+1519C>A (n.514+1519C>A) c.*368C>A (n.*368C>A) c.3883C>A (p.Gln1295Lys) c.3853C>A (p.Gln1285Lys) c.3979C>A (p.Gln1327Lys) c.3268C>A (p.Gln1090Lys) c.3597+980C>A (n.3597+980C>A) c.3547+1519C>A (n.3547+1519C>A) c.3205C>A (p.Gln1069Lys) c.3172C>A (p.Gln1058Lys) c.3385C>A (p.Gln1129Lys) | gnomAD v4 |
| X | g.53234806del | CA2693794290 | IQSEC2 | c.4042del (p.Gln1348SerfsTer?) c.1453+980del c.962+980del c.316+1519del (n.316+1519del) c.514+1519del (n.514+1519del) c.*368del (n.*368del) c.3883del (p.Gln1295SerfsTer?) c.3853del (p.Gln1285SerfsTer?) c.3979del (p.Gln1327SerfsTer?) c.3268del (p.Gln1090SerfsTer?) c.3597+980del (n.3597+980del) c.3547+1519del (n.3547+1519del) c.3205del (p.Gln1069SerfsTer?) c.3172del (p.Gln1058SerfsTer?) c.3385del (p.Gln1129SerfsTer?) | gnomAD v4 |
| X | g.53234804G>A | CA516673646 | IQSEC2 | c.4041C>T (p.Pro1347=) c.1453+979C>T c.962+979C>T c.316+1518C>T (n.316+1518C>T) c.514+1518C>T (n.514+1518C>T) c.*367C>T (n.*367C>T) c.3882C>T (p.Pro1294=) c.3852C>T (p.Pro1284=) c.3978C>T (p.Pro1326=) c.3267C>T (p.Pro1089=) c.3597+979C>T (n.3597+979C>T) c.3547+1518C>T (n.3547+1518C>T) c.3204C>T (p.Pro1068=) c.3171C>T (p.Pro1057=) c.3384C>T (p.Pro1128=) | |
| X | g.53234804G>C | CA516673647 | IQSEC2 | c.4041C>G (p.Pro1347=) c.1453+979C>G c.962+979C>G c.316+1518C>G (n.316+1518C>G) c.514+1518C>G (n.514+1518C>G) c.*367C>G (n.*367C>G) c.3882C>G (p.Pro1294=) c.3852C>G (p.Pro1284=) c.3978C>G (p.Pro1326=) c.3267C>G (p.Pro1089=) c.3597+979C>G (n.3597+979C>G) c.3547+1518C>G (n.3547+1518C>G) c.3204C>G (p.Pro1068=) c.3171C>G (p.Pro1057=) c.3384C>G (p.Pro1128=) | |
| X | g.53234804G>T | CA516673648 | IQSEC2 | c.4041C>A (p.Pro1347=) c.1453+979C>A c.962+979C>A c.316+1518C>A (n.316+1518C>A) c.514+1518C>A (n.514+1518C>A) c.*367C>A (n.*367C>A) c.3882C>A (p.Pro1294=) c.3852C>A (p.Pro1284=) c.3978C>A (p.Pro1326=) c.3267C>A (p.Pro1089=) c.3597+979C>A (n.3597+979C>A) c.3547+1518C>A (n.3547+1518C>A) c.3204C>A (p.Pro1068=) c.3171C>A (p.Pro1057=) c.3384C>A (p.Pro1128=) | gnomAD v4 |
| X | g.53234805G>A | CA413140306 | IQSEC2 | c.4040C>T (p.Pro1347Leu) c.1453+978C>T c.962+978C>T c.316+1517C>T (n.316+1517C>T) c.514+1517C>T (n.514+1517C>T) c.*366C>T (n.*366C>T) c.3881C>T (p.Pro1294Leu) c.3851C>T (p.Pro1284Leu) c.3977C>T (p.Pro1326Leu) c.3266C>T (p.Pro1089Leu) c.3597+978C>T (n.3597+978C>T) c.3547+1517C>T (n.3547+1517C>T) c.3203C>T (p.Pro1068Leu) c.3170C>T (p.Pro1057Leu) c.3383C>T (p.Pro1128Leu) | |
| X | g.53234805G>C | CA413140304 | IQSEC2 | c.4040C>G (p.Pro1347Arg) c.1453+978C>G c.962+978C>G c.316+1517C>G (n.316+1517C>G) c.514+1517C>G (n.514+1517C>G) c.*366C>G (n.*366C>G) c.3881C>G (p.Pro1294Arg) c.3851C>G (p.Pro1284Arg) c.3977C>G (p.Pro1326Arg) c.3266C>G (p.Pro1089Arg) c.3597+978C>G (n.3597+978C>G) c.3547+1517C>G (n.3547+1517C>G) c.3203C>G (p.Pro1068Arg) c.3170C>G (p.Pro1057Arg) c.3383C>G (p.Pro1128Arg) | |
| X | g.53234805G>T | CA413140302 | IQSEC2 | c.4040C>A (p.Pro1347His) c.1453+978C>A c.962+978C>A c.316+1517C>A (n.316+1517C>A) c.514+1517C>A (n.514+1517C>A) c.*366C>A (n.*366C>A) c.3881C>A (p.Pro1294His) c.3851C>A (p.Pro1284His) c.3977C>A (p.Pro1326His) c.3266C>A (p.Pro1089His) c.3597+978C>A (n.3597+978C>A) c.3547+1517C>A (n.3547+1517C>A) c.3203C>A (p.Pro1068His) c.3170C>A (p.Pro1057His) c.3383C>A (p.Pro1128His) | |
| X | g.53234806G>A | CA413140307 | IQSEC2 | c.4039C>T (p.Pro1347Ser) c.1453+977C>T c.962+977C>T c.316+1516C>T (n.316+1516C>T) c.514+1516C>T (n.514+1516C>T) c.*365C>T (n.*365C>T) c.3880C>T (p.Pro1294Ser) c.3850C>T (p.Pro1284Ser) c.3976C>T (p.Pro1326Ser) c.3265C>T (p.Pro1089Ser) c.3597+977C>T (n.3597+977C>T) c.3547+1516C>T (n.3547+1516C>T) c.3202C>T (p.Pro1068Ser) c.3169C>T (p.Pro1057Ser) c.3382C>T (p.Pro1128Ser) | |
| X | g.53234806G>C | CA413140309 | IQSEC2 | c.4039C>G (p.Pro1347Ala) c.1453+977C>G c.962+977C>G c.316+1516C>G (n.316+1516C>G) c.514+1516C>G (n.514+1516C>G) c.*365C>G (n.*365C>G) c.3880C>G (p.Pro1294Ala) c.3850C>G (p.Pro1284Ala) c.3976C>G (p.Pro1326Ala) c.3265C>G (p.Pro1089Ala) c.3597+977C>G (n.3597+977C>G) c.3547+1516C>G (n.3547+1516C>G) c.3202C>G (p.Pro1068Ala) c.3169C>G (p.Pro1057Ala) c.3382C>G (p.Pro1128Ala) | |
| X | g.53234806G= | CA2429770600 | IQSEC2 | c.4039C= (p.Pro1347=) c.1453+977C= c.962+977C= c.316+1516C= (n.316+1516C=) c.514+1516C= (n.514+1516C=) c.*365C= (n.*365C=) c.3880C= (p.Pro1294=) c.3850C= (p.Pro1284=) c.3976C= (p.Pro1326=) c.3265C= (p.Pro1089=) c.3597+977C= (n.3597+977C=) c.3547+1516C= (n.3547+1516C=) c.3202C= (p.Pro1068=) c.3169C= (p.Pro1057=) c.3382C= (p.Pro1128=) | |
| X | g.53234806G>T | CA10419773 | IQSEC2 | c.4039C>A (p.Pro1347Thr) c.1453+977C>A c.962+977C>A c.316+1516C>A (n.316+1516C>A) c.514+1516C>A (n.514+1516C>A) c.*365C>A (n.*365C>A) c.3880C>A (p.Pro1294Thr) c.3850C>A (p.Pro1284Thr) c.3976C>A (p.Pro1326Thr) c.3265C>A (p.Pro1089Thr) c.3597+977C>A (n.3597+977C>A) c.3547+1516C>A (n.3547+1516C>A) c.3202C>A (p.Pro1068Thr) c.3169C>A (p.Pro1057Thr) c.3382C>A (p.Pro1128Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53234807A= | CA2429770601 | IQSEC2 | c.4038T= (p.Pro1346=) c.1453+976T= c.962+976T= c.316+1515T= (n.316+1515T=) c.514+1515T= (n.514+1515T=) c.*364T= (n.*364T=) c.3879T= (p.Pro1293=) c.3849T= (p.Pro1283=) c.3975T= (p.Pro1325=) c.3264T= (p.Pro1088=) c.3597+976T= (n.3597+976T=) c.3547+1515T= (n.3547+1515T=) c.3201T= (p.Pro1067=) c.3168T= (p.Pro1056=) c.3381T= (p.Pro1127=) | |
| X | g.53234807A>C | CA516673652 | IQSEC2 | c.4038T>G (p.Pro1346=) c.1453+976T>G c.962+976T>G c.316+1515T>G (n.316+1515T>G) c.514+1515T>G (n.514+1515T>G) c.*364T>G (n.*364T>G) c.3879T>G (p.Pro1293=) c.3849T>G (p.Pro1283=) c.3975T>G (p.Pro1325=) c.3264T>G (p.Pro1088=) c.3597+976T>G (n.3597+976T>G) c.3547+1515T>G (n.3547+1515T>G) c.3201T>G (p.Pro1067=) c.3168T>G (p.Pro1056=) c.3381T>G (p.Pro1127=) | gnomAD v4 |
| X | g.53234807A>G | CA516673653 | IQSEC2 | c.4038T>C (p.Pro1346=) c.1453+976T>C c.962+976T>C c.316+1515T>C (n.316+1515T>C) c.514+1515T>C (n.514+1515T>C) c.*364T>C (n.*364T>C) c.3879T>C (p.Pro1293=) c.3849T>C (p.Pro1283=) c.3975T>C (p.Pro1325=) c.3264T>C (p.Pro1088=) c.3597+976T>C (n.3597+976T>C) c.3547+1515T>C (n.3547+1515T>C) c.3201T>C (p.Pro1067=) c.3168T>C (p.Pro1056=) c.3381T>C (p.Pro1127=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53234807A>T | CA516673654 | IQSEC2 | c.4038T>A (p.Pro1346=) c.1453+976T>A c.962+976T>A c.316+1515T>A (n.316+1515T>A) c.514+1515T>A (n.514+1515T>A) c.*364T>A (n.*364T>A) c.3879T>A (p.Pro1293=) c.3849T>A (p.Pro1283=) c.3975T>A (p.Pro1325=) c.3264T>A (p.Pro1088=) c.3597+976T>A (n.3597+976T>A) c.3547+1515T>A (n.3547+1515T>A) c.3201T>A (p.Pro1067=) c.3168T>A (p.Pro1056=) c.3381T>A (p.Pro1127=) | gnomAD v4 |
| X | g.53234808G>A | CA413140311 | IQSEC2 | c.4037C>T (p.Pro1346Leu) c.1453+975C>T c.962+975C>T c.316+1514C>T (n.316+1514C>T) c.514+1514C>T (n.514+1514C>T) c.*363C>T (n.*363C>T) c.3878C>T (p.Pro1293Leu) c.3848C>T (p.Pro1283Leu) c.3974C>T (p.Pro1325Leu) c.3263C>T (p.Pro1088Leu) c.3597+975C>T (n.3597+975C>T) c.3547+1514C>T (n.3547+1514C>T) c.3200C>T (p.Pro1067Leu) c.3167C>T (p.Pro1056Leu) c.3380C>T (p.Pro1127Leu) | |
| X | g.53234808G>C | CA413140313 | IQSEC2 | c.4037C>G (p.Pro1346Arg) c.1453+975C>G c.962+975C>G c.316+1514C>G (n.316+1514C>G) c.514+1514C>G (n.514+1514C>G) c.*363C>G (n.*363C>G) c.3878C>G (p.Pro1293Arg) c.3848C>G (p.Pro1283Arg) c.3974C>G (p.Pro1325Arg) c.3263C>G (p.Pro1088Arg) c.3597+975C>G (n.3597+975C>G) c.3547+1514C>G (n.3547+1514C>G) c.3200C>G (p.Pro1067Arg) c.3167C>G (p.Pro1056Arg) c.3380C>G (p.Pro1127Arg) | |
| X | g.53234808G>T | CA413140314 | IQSEC2 | c.4037C>A (p.Pro1346His) c.1453+975C>A c.962+975C>A c.316+1514C>A (n.316+1514C>A) c.514+1514C>A (n.514+1514C>A) c.*363C>A (n.*363C>A) c.3878C>A (p.Pro1293His) c.3848C>A (p.Pro1283His) c.3974C>A (p.Pro1325His) c.3263C>A (p.Pro1088His) c.3597+975C>A (n.3597+975C>A) c.3547+1514C>A (n.3547+1514C>A) c.3200C>A (p.Pro1067His) c.3167C>A (p.Pro1056His) c.3380C>A (p.Pro1127His) | gnomAD v4 |
| X | g.53234809G>A | CA413140316 | IQSEC2 | c.4036C>T (p.Pro1346Ser) c.1453+974C>T c.962+974C>T c.316+1513C>T (n.316+1513C>T) c.514+1513C>T (n.514+1513C>T) c.*362C>T (n.*362C>T) c.3877C>T (p.Pro1293Ser) c.3847C>T (p.Pro1283Ser) c.3973C>T (p.Pro1325Ser) c.3262C>T (p.Pro1088Ser) c.3597+974C>T (n.3597+974C>T) c.3547+1513C>T (n.3547+1513C>T) c.3199C>T (p.Pro1067Ser) c.3166C>T (p.Pro1056Ser) c.3379C>T (p.Pro1127Ser) | gnomAD v4 |
| X | g.53234809G>C | CA413140317 | IQSEC2 | c.4036C>G (p.Pro1346Ala) c.1453+974C>G c.962+974C>G c.316+1513C>G (n.316+1513C>G) c.514+1513C>G (n.514+1513C>G) c.*362C>G (n.*362C>G) c.3877C>G (p.Pro1293Ala) c.3847C>G (p.Pro1283Ala) c.3973C>G (p.Pro1325Ala) c.3262C>G (p.Pro1088Ala) c.3597+974C>G (n.3597+974C>G) c.3547+1513C>G (n.3547+1513C>G) c.3199C>G (p.Pro1067Ala) c.3166C>G (p.Pro1056Ala) c.3379C>G (p.Pro1127Ala) | |
| X | g.53234809G>T | CA413140319 | IQSEC2 | c.4036C>A (p.Pro1346Thr) c.1453+974C>A c.962+974C>A c.316+1513C>A (n.316+1513C>A) c.514+1513C>A (n.514+1513C>A) c.*362C>A (n.*362C>A) c.3877C>A (p.Pro1293Thr) c.3847C>A (p.Pro1283Thr) c.3973C>A (p.Pro1325Thr) c.3262C>A (p.Pro1088Thr) c.3597+974C>A (n.3597+974C>A) c.3547+1513C>A (n.3547+1513C>A) c.3199C>A (p.Pro1067Thr) c.3166C>A (p.Pro1056Thr) c.3379C>A (p.Pro1127Thr) | gnomAD v4 |
| X | g.53234810T>A | CA516673658 | IQSEC2 | c.4035A>T (p.Pro1345=) c.1453+973A>T c.962+973A>T c.316+1512A>T (n.316+1512A>T) c.514+1512A>T (n.514+1512A>T) c.*361A>T (n.*361A>T) c.3876A>T (p.Pro1292=) c.3846A>T (p.Pro1282=) c.3972A>T (p.Pro1324=) c.3261A>T (p.Pro1087=) c.3597+973A>T (n.3597+973A>T) c.3547+1512A>T (n.3547+1512A>T) c.3198A>T (p.Pro1066=) c.3165A>T (p.Pro1055=) c.3378A>T (p.Pro1126=) | gnomAD v3 gnomAD v4 |
| X | g.53234810T>C | CA516673659 | IQSEC2 | c.4035A>G (p.Pro1345=) c.1453+973A>G c.962+973A>G c.316+1512A>G (n.316+1512A>G) c.514+1512A>G (n.514+1512A>G) c.*361A>G (n.*361A>G) c.3876A>G (p.Pro1292=) c.3846A>G (p.Pro1282=) c.3972A>G (p.Pro1324=) c.3261A>G (p.Pro1087=) c.3597+973A>G (n.3597+973A>G) c.3547+1512A>G (n.3547+1512A>G) c.3198A>G (p.Pro1066=) c.3165A>G (p.Pro1055=) c.3378A>G (p.Pro1126=) | |
| X | g.53234810T>G | CA329162092 | IQSEC2 | c.4035A>C (p.Pro1345=) c.1453+973A>C c.962+973A>C c.316+1512A>C (n.316+1512A>C) c.514+1512A>C (n.514+1512A>C) c.*361A>C (n.*361A>C) c.3876A>C (p.Pro1292=) c.3846A>C (p.Pro1282=) c.3972A>C (p.Pro1324=) c.3261A>C (p.Pro1087=) c.3597+973A>C (n.3597+973A>C) c.3547+1512A>C (n.3547+1512A>C) c.3198A>C (p.Pro1066=) c.3165A>C (p.Pro1055=) c.3378A>C (p.Pro1126=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53234810T= | CA2429770602 | IQSEC2 | c.4035A= (p.Pro1345=) c.1453+973A= c.962+973A= c.316+1512A= (n.316+1512A=) c.514+1512A= (n.514+1512A=) c.*361A= (n.*361A=) c.3876A= (p.Pro1292=) c.3846A= (p.Pro1282=) c.3972A= (p.Pro1324=) c.3261A= (p.Pro1087=) c.3597+973A= (n.3597+973A=) c.3547+1512A= (n.3547+1512A=) c.3198A= (p.Pro1066=) c.3165A= (p.Pro1055=) c.3378A= (p.Pro1126=) | |
| X | g.53234810_53234811delinsTG | CA2429770603 | IQSEC2 | c.4034_4035delinsCA (p.Pro1345=) c.1453+972_1453+973delinsCA c.962+972_962+973delinsCA c.316+1511_316+1512delinsCA (n.316+1511_316+1512delinsCA) c.514+1511_514+1512delinsCA (n.514+1511_514+1512delinsCA) c.*360_*361delinsCA (n.*360_*361delinsCA) c.3875_3876delinsCA (p.Pro1292=) c.3845_3846delinsCA (p.Pro1282=) c.3971_3972delinsCA (p.Pro1324=) c.3260_3261delinsCA (p.Pro1087=) c.3597+972_3597+973delinsCA (n.3597+972_3597+973delinsCA) c.3547+1511_3547+1512delinsCA (n.3547+1511_3547+1512delinsCA) c.3197_3198delinsCA (p.Pro1066=) c.3164_3165delinsCA (p.Pro1055=) c.3377_3378delinsCA (p.Pro1126=) | |
| X | g.53234811G>A | CA413140322 | IQSEC2 | c.4034C>T (p.Pro1345Leu) c.1453+972C>T c.962+972C>T c.316+1511C>T (n.316+1511C>T) c.514+1511C>T (n.514+1511C>T) c.*360C>T (n.*360C>T) c.3875C>T (p.Pro1292Leu) c.3845C>T (p.Pro1282Leu) c.3971C>T (p.Pro1324Leu) c.3260C>T (p.Pro1087Leu) c.3597+972C>T (n.3597+972C>T) c.3547+1511C>T (n.3547+1511C>T) c.3197C>T (p.Pro1066Leu) c.3164C>T (p.Pro1055Leu) c.3377C>T (p.Pro1126Leu) | gnomAD v4 |
| X | g.53234811G>C | CA413140323 | IQSEC2 | c.4034C>G (p.Pro1345Arg) c.1453+972C>G c.962+972C>G c.316+1511C>G (n.316+1511C>G) c.514+1511C>G (n.514+1511C>G) c.*360C>G (n.*360C>G) c.3875C>G (p.Pro1292Arg) c.3845C>G (p.Pro1282Arg) c.3971C>G (p.Pro1324Arg) c.3260C>G (p.Pro1087Arg) c.3597+972C>G (n.3597+972C>G) c.3547+1511C>G (n.3547+1511C>G) c.3197C>G (p.Pro1066Arg) c.3164C>G (p.Pro1055Arg) c.3377C>G (p.Pro1126Arg) | |
| X | g.53234811G>T | CA413140325 | IQSEC2 | c.4034C>A (p.Pro1345Gln) c.1453+972C>A c.962+972C>A c.316+1511C>A (n.316+1511C>A) c.514+1511C>A (n.514+1511C>A) c.*360C>A (n.*360C>A) c.3875C>A (p.Pro1292Gln) c.3845C>A (p.Pro1282Gln) c.3971C>A (p.Pro1324Gln) c.3260C>A (p.Pro1087Gln) c.3597+972C>A (n.3597+972C>A) c.3547+1511C>A (n.3547+1511C>A) c.3197C>A (p.Pro1066Gln) c.3164C>A (p.Pro1055Gln) c.3377C>A (p.Pro1126Gln) | gnomAD v4 |
| X | g.53234815dup | CA2573158979 | IQSEC2 | c.4034dup (p.Pro1346ThrfsTer?) c.1453+972dup c.962+972dup c.316+1511dup (n.316+1511dup) c.514+1511dup (n.514+1511dup) c.*360dup (n.*360dup) c.3875dup (p.Pro1293ThrfsTer?) c.3845dup (p.Pro1283ThrfsTer?) c.3971dup (p.Pro1325ThrfsTer?) c.3260dup (p.Pro1088ThrfsTer?) c.3597+972dup (n.3597+972dup) c.3547+1511dup (n.3547+1511dup) c.3197dup (p.Pro1067ThrfsTer?) c.3164dup (p.Pro1056ThrfsTer?) c.3377dup (p.Pro1127ThrfsTer?) | ClinVar dbSNP |
| X | g.53234815del | CA913191241 | IQSEC2 | c.4034del (p.Pro1345HisfsTer?) c.1453+972del c.962+972del c.316+1511del (n.316+1511del) c.514+1511del (n.514+1511del) c.*360del (n.*360del) c.3875del (p.Pro1292HisfsTer?) c.3845del (p.Pro1282HisfsTer?) c.3971del (p.Pro1324HisfsTer?) c.3260del (p.Pro1087HisfsTer?) c.3597+972del (n.3597+972del) c.3547+1511del (n.3547+1511del) c.3197del (p.Pro1066HisfsTer?) c.3164del (p.Pro1055HisfsTer?) c.3377del (p.Pro1126HisfsTer?) | ClinVar dbSNP |
| X | g.53234812G>A | CA413140329 | IQSEC2 | c.4033C>T (p.Pro1345Ser) c.1453+971C>T c.962+971C>T c.316+1510C>T (n.316+1510C>T) c.514+1510C>T (n.514+1510C>T) c.*359C>T (n.*359C>T) c.3874C>T (p.Pro1292Ser) c.3844C>T (p.Pro1282Ser) c.3970C>T (p.Pro1324Ser) c.3259C>T (p.Pro1087Ser) c.3597+971C>T (n.3597+971C>T) c.3547+1510C>T (n.3547+1510C>T) c.3196C>T (p.Pro1066Ser) c.3163C>T (p.Pro1055Ser) c.3376C>T (p.Pro1126Ser) | dbSNP gnomAD v4 |