UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53234793G>A | CA413140250 | IQSEC2 | c.4052C>T (p.Pro1351Leu) c.1453+990C>T c.962+990C>T c.316+1529C>T (n.316+1529C>T) c.514+1529C>T (n.514+1529C>T) c.*378C>T (n.*378C>T) c.3893C>T (p.Pro1298Leu) c.3863C>T (p.Pro1288Leu) c.3989C>T (p.Pro1330Leu) c.3278C>T (p.Pro1093Leu) c.3597+990C>T (n.3597+990C>T) c.3547+1529C>T (n.3547+1529C>T) c.3215C>T (p.Pro1072Leu) c.3182C>T (p.Pro1061Leu) c.3395C>T (p.Pro1132Leu) | |
| X | g.53234793G>C | CA413140246 | IQSEC2 | c.4052C>G (p.Pro1351Arg) c.1453+990C>G c.962+990C>G c.316+1529C>G (n.316+1529C>G) c.514+1529C>G (n.514+1529C>G) c.*378C>G (n.*378C>G) c.3893C>G (p.Pro1298Arg) c.3863C>G (p.Pro1288Arg) c.3989C>G (p.Pro1330Arg) c.3278C>G (p.Pro1093Arg) c.3597+990C>G (n.3597+990C>G) c.3547+1529C>G (n.3547+1529C>G) c.3215C>G (p.Pro1072Arg) c.3182C>G (p.Pro1061Arg) c.3395C>G (p.Pro1132Arg) | |
| X | g.53234793G>T | CA413140248 | IQSEC2 | c.4052C>A (p.Pro1351Gln) c.1453+990C>A c.962+990C>A c.316+1529C>A (n.316+1529C>A) c.514+1529C>A (n.514+1529C>A) c.*378C>A (n.*378C>A) c.3893C>A (p.Pro1298Gln) c.3863C>A (p.Pro1288Gln) c.3989C>A (p.Pro1330Gln) c.3278C>A (p.Pro1093Gln) c.3597+990C>A (n.3597+990C>A) c.3547+1529C>A (n.3547+1529C>A) c.3215C>A (p.Pro1072Gln) c.3182C>A (p.Pro1061Gln) c.3395C>A (p.Pro1132Gln) | gnomAD v4 |
| X | g.53234797dup | CA2820950183 | IQSEC2 | c.4052dup (p.Pro1352ThrfsTer?) c.1453+990dup c.962+990dup c.316+1529dup (n.316+1529dup) c.514+1529dup (n.514+1529dup) c.*378dup (n.*378dup) c.3893dup (p.Pro1299ThrfsTer?) c.3863dup (p.Pro1289ThrfsTer?) c.3989dup (p.Pro1331ThrfsTer?) c.3278dup (p.Pro1094ThrfsTer?) c.3597+990dup (n.3597+990dup) c.3547+1529dup (n.3547+1529dup) c.3215dup (p.Pro1073ThrfsTer?) c.3182dup (p.Pro1062ThrfsTer?) c.3395dup (p.Pro1133ThrfsTer?) | |
| X | g.53234797del | CA2693794286 | IQSEC2 | c.4052del (p.Pro1351HisfsTer?) c.1453+990del c.962+990del c.316+1529del (n.316+1529del) c.514+1529del (n.514+1529del) c.*378del (n.*378del) c.3893del (p.Pro1298HisfsTer?) c.3863del (p.Pro1288HisfsTer?) c.3989del (p.Pro1330HisfsTer?) c.3278del (p.Pro1093HisfsTer?) c.3597+990del (n.3597+990del) c.3547+1529del (n.3547+1529del) c.3215del (p.Pro1072HisfsTer?) c.3182del (p.Pro1061HisfsTer?) c.3395del (p.Pro1132HisfsTer?) | gnomAD v4 |
| 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.53234794G>A | CA413140252 | IQSEC2 | c.4051C>T (p.Pro1351Ser) c.1453+989C>T c.962+989C>T c.316+1528C>T (n.316+1528C>T) c.514+1528C>T (n.514+1528C>T) c.*377C>T (n.*377C>T) c.3892C>T (p.Pro1298Ser) c.3862C>T (p.Pro1288Ser) c.3988C>T (p.Pro1330Ser) c.3277C>T (p.Pro1093Ser) c.3597+989C>T (n.3597+989C>T) c.3547+1528C>T (n.3547+1528C>T) c.3214C>T (p.Pro1072Ser) c.3181C>T (p.Pro1061Ser) c.3394C>T (p.Pro1132Ser) | |
| X | g.53234794G>C | CA413140254 | IQSEC2 | c.4051C>G (p.Pro1351Ala) c.1453+989C>G c.962+989C>G c.316+1528C>G (n.316+1528C>G) c.514+1528C>G (n.514+1528C>G) c.*377C>G (n.*377C>G) c.3892C>G (p.Pro1298Ala) c.3862C>G (p.Pro1288Ala) c.3988C>G (p.Pro1330Ala) c.3277C>G (p.Pro1093Ala) c.3597+989C>G (n.3597+989C>G) c.3547+1528C>G (n.3547+1528C>G) c.3214C>G (p.Pro1072Ala) c.3181C>G (p.Pro1061Ala) c.3394C>G (p.Pro1132Ala) | |
| X | g.53234794G>T | CA413140256 | IQSEC2 | c.4051C>A (p.Pro1351Thr) c.1453+989C>A c.962+989C>A c.316+1528C>A (n.316+1528C>A) c.514+1528C>A (n.514+1528C>A) c.*377C>A (n.*377C>A) c.3892C>A (p.Pro1298Thr) c.3862C>A (p.Pro1288Thr) c.3988C>A (p.Pro1330Thr) c.3277C>A (p.Pro1093Thr) c.3597+989C>A (n.3597+989C>A) c.3547+1528C>A (n.3547+1528C>A) c.3214C>A (p.Pro1072Thr) c.3181C>A (p.Pro1061Thr) c.3394C>A (p.Pro1132Thr) | |
| X | g.53234795G>A | CA516673635 | IQSEC2 | c.4050C>T (p.Pro1350=) c.1453+988C>T c.962+988C>T c.316+1527C>T (n.316+1527C>T) c.514+1527C>T (n.514+1527C>T) c.*376C>T (n.*376C>T) c.3891C>T (p.Pro1297=) c.3861C>T (p.Pro1287=) c.3987C>T (p.Pro1329=) c.3276C>T (p.Pro1092=) c.3597+988C>T (n.3597+988C>T) c.3547+1527C>T (n.3547+1527C>T) c.3213C>T (p.Pro1071=) c.3180C>T (p.Pro1060=) c.3393C>T (p.Pro1131=) | dbSNP |
| X | g.53234795G>C | CA516673636 | IQSEC2 | c.4050C>G (p.Pro1350=) c.1453+988C>G c.962+988C>G c.316+1527C>G (n.316+1527C>G) c.514+1527C>G (n.514+1527C>G) c.*376C>G (n.*376C>G) c.3891C>G (p.Pro1297=) c.3861C>G (p.Pro1287=) c.3987C>G (p.Pro1329=) c.3276C>G (p.Pro1092=) c.3597+988C>G (n.3597+988C>G) c.3547+1527C>G (n.3547+1527C>G) c.3213C>G (p.Pro1071=) c.3180C>G (p.Pro1060=) c.3393C>G (p.Pro1131=) | |
| X | g.53234795G= | CA2429770596 | IQSEC2 | c.4050C= (p.Pro1350=) c.1453+988C= c.962+988C= c.316+1527C= (n.316+1527C=) c.514+1527C= (n.514+1527C=) c.*376C= (n.*376C=) c.3891C= (p.Pro1297=) c.3861C= (p.Pro1287=) c.3987C= (p.Pro1329=) c.3276C= (p.Pro1092=) c.3597+988C= (n.3597+988C=) c.3547+1527C= (n.3547+1527C=) c.3213C= (p.Pro1071=) c.3180C= (p.Pro1060=) c.3393C= (p.Pro1131=) | |
| X | g.53234795G>T | CA516673634 | IQSEC2 | c.4050C>A (p.Pro1350=) c.1453+988C>A c.962+988C>A c.316+1527C>A (n.316+1527C>A) c.514+1527C>A (n.514+1527C>A) c.*376C>A (n.*376C>A) c.3891C>A (p.Pro1297=) c.3861C>A (p.Pro1287=) c.3987C>A (p.Pro1329=) c.3276C>A (p.Pro1092=) c.3597+988C>A (n.3597+988C>A) c.3547+1527C>A (n.3547+1527C>A) c.3213C>A (p.Pro1071=) c.3180C>A (p.Pro1060=) c.3393C>A (p.Pro1131=) | |
| 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.53234796G>A | CA413140258 | IQSEC2 | c.4049C>T (p.Pro1350Leu) c.1453+987C>T c.962+987C>T c.316+1526C>T (n.316+1526C>T) c.514+1526C>T (n.514+1526C>T) c.*375C>T (n.*375C>T) c.3890C>T (p.Pro1297Leu) c.3860C>T (p.Pro1287Leu) c.3986C>T (p.Pro1329Leu) c.3275C>T (p.Pro1092Leu) c.3597+987C>T (n.3597+987C>T) c.3547+1526C>T (n.3547+1526C>T) c.3212C>T (p.Pro1071Leu) c.3179C>T (p.Pro1060Leu) c.3392C>T (p.Pro1131Leu) | |
| X | g.53234796G>C | CA413140260 | IQSEC2 | c.4049C>G (p.Pro1350Arg) c.1453+987C>G c.962+987C>G c.316+1526C>G (n.316+1526C>G) c.514+1526C>G (n.514+1526C>G) c.*375C>G (n.*375C>G) c.3890C>G (p.Pro1297Arg) c.3860C>G (p.Pro1287Arg) c.3986C>G (p.Pro1329Arg) c.3275C>G (p.Pro1092Arg) c.3597+987C>G (n.3597+987C>G) c.3547+1526C>G (n.3547+1526C>G) c.3212C>G (p.Pro1071Arg) c.3179C>G (p.Pro1060Arg) c.3392C>G (p.Pro1131Arg) | |
| X | g.53234796G>T | CA413140261 | IQSEC2 | c.4049C>A (p.Pro1350His) c.1453+987C>A c.962+987C>A c.316+1526C>A (n.316+1526C>A) c.514+1526C>A (n.514+1526C>A) c.*375C>A (n.*375C>A) c.3890C>A (p.Pro1297His) c.3860C>A (p.Pro1287His) c.3986C>A (p.Pro1329His) c.3275C>A (p.Pro1092His) c.3597+987C>A (n.3597+987C>A) c.3547+1526C>A (n.3547+1526C>A) c.3212C>A (p.Pro1071His) c.3179C>A (p.Pro1060His) c.3392C>A (p.Pro1131His) | gnomAD v4 |
| X | g.53234797G>A | CA413140263 | IQSEC2 | c.4048C>T (p.Pro1350Ser) c.1453+986C>T c.962+986C>T c.316+1525C>T (n.316+1525C>T) c.514+1525C>T (n.514+1525C>T) c.*374C>T (n.*374C>T) c.3889C>T (p.Pro1297Ser) c.3859C>T (p.Pro1287Ser) c.3985C>T (p.Pro1329Ser) c.3274C>T (p.Pro1092Ser) c.3597+986C>T (n.3597+986C>T) c.3547+1525C>T (n.3547+1525C>T) c.3211C>T (p.Pro1071Ser) c.3178C>T (p.Pro1060Ser) c.3391C>T (p.Pro1131Ser) | dbSNP gnomAD v4 |
| X | g.53234797G>C | CA413140265 | IQSEC2 | c.4048C>G (p.Pro1350Ala) c.1453+986C>G c.962+986C>G c.316+1525C>G (n.316+1525C>G) c.514+1525C>G (n.514+1525C>G) c.*374C>G (n.*374C>G) c.3889C>G (p.Pro1297Ala) c.3859C>G (p.Pro1287Ala) c.3985C>G (p.Pro1329Ala) c.3274C>G (p.Pro1092Ala) c.3597+986C>G (n.3597+986C>G) c.3547+1525C>G (n.3547+1525C>G) c.3211C>G (p.Pro1071Ala) c.3178C>G (p.Pro1060Ala) c.3391C>G (p.Pro1131Ala) | |
| X | g.53234797G= | CA2429770597 | IQSEC2 | c.4048C= (p.Pro1350=) c.1453+986C= c.962+986C= c.316+1525C= (n.316+1525C=) c.514+1525C= (n.514+1525C=) c.*374C= (n.*374C=) c.3889C= (p.Pro1297=) c.3859C= (p.Pro1287=) c.3985C= (p.Pro1329=) c.3274C= (p.Pro1092=) c.3597+986C= (n.3597+986C=) c.3547+1525C= (n.3547+1525C=) c.3211C= (p.Pro1071=) c.3178C= (p.Pro1060=) c.3391C= (p.Pro1131=) | |
| X | g.53234797G>T | CA413140270 | IQSEC2 | c.4048C>A (p.Pro1350Thr) c.1453+986C>A c.962+986C>A c.316+1525C>A (n.316+1525C>A) c.514+1525C>A (n.514+1525C>A) c.*374C>A (n.*374C>A) c.3889C>A (p.Pro1297Thr) c.3859C>A (p.Pro1287Thr) c.3985C>A (p.Pro1329Thr) c.3274C>A (p.Pro1092Thr) c.3597+986C>A (n.3597+986C>A) c.3547+1525C>A (n.3547+1525C>A) c.3211C>A (p.Pro1071Thr) c.3178C>A (p.Pro1060Thr) c.3391C>A (p.Pro1131Thr) | |
| X | g.53234798C>A | CA413140272 | IQSEC2 | c.4047G>T (p.Gln1349His) c.1453+985G>T c.962+985G>T c.316+1524G>T (n.316+1524G>T) c.514+1524G>T (n.514+1524G>T) c.*373G>T (n.*373G>T) c.3888G>T (p.Gln1296His) c.3858G>T (p.Gln1286His) c.3984G>T (p.Gln1328His) c.3273G>T (p.Gln1091His) c.3597+985G>T (n.3597+985G>T) c.3547+1524G>T (n.3547+1524G>T) c.3210G>T (p.Gln1070His) c.3177G>T (p.Gln1059His) c.3390G>T (p.Gln1130His) | |
| X | g.53234798C>G | CA413140274 | IQSEC2 | c.4047G>C (p.Gln1349His) c.1453+985G>C c.962+985G>C c.316+1524G>C (n.316+1524G>C) c.514+1524G>C (n.514+1524G>C) c.*373G>C (n.*373G>C) c.3888G>C (p.Gln1296His) c.3858G>C (p.Gln1286His) c.3984G>C (p.Gln1328His) c.3273G>C (p.Gln1091His) c.3597+985G>C (n.3597+985G>C) c.3547+1524G>C (n.3547+1524G>C) c.3210G>C (p.Gln1070His) c.3177G>C (p.Gln1059His) c.3390G>C (p.Gln1130His) | |
| X | g.53234798C>T | CA516673640 | IQSEC2 | c.4047G>A (p.Gln1349=) c.1453+985G>A c.962+985G>A c.316+1524G>A (n.316+1524G>A) c.514+1524G>A (n.514+1524G>A) c.*373G>A (n.*373G>A) c.3888G>A (p.Gln1296=) c.3858G>A (p.Gln1286=) c.3984G>A (p.Gln1328=) c.3273G>A (p.Gln1091=) c.3597+985G>A (n.3597+985G>A) c.3547+1524G>A (n.3547+1524G>A) c.3210G>A (p.Gln1070=) c.3177G>A (p.Gln1059=) c.3390G>A (p.Gln1130=) | |
| X | g.53234799T>A | CA413140279 | IQSEC2 | c.4046A>T (p.Gln1349Leu) c.1453+984A>T c.962+984A>T c.316+1523A>T (n.316+1523A>T) c.514+1523A>T (n.514+1523A>T) c.*372A>T (n.*372A>T) c.3887A>T (p.Gln1296Leu) c.3857A>T (p.Gln1286Leu) c.3983A>T (p.Gln1328Leu) c.3272A>T (p.Gln1091Leu) c.3597+984A>T (n.3597+984A>T) c.3547+1523A>T (n.3547+1523A>T) c.3209A>T (p.Gln1070Leu) c.3176A>T (p.Gln1059Leu) c.3389A>T (p.Gln1130Leu) | |
| X | g.53234799T>C | CA413140276 | IQSEC2 | c.4046A>G (p.Gln1349Arg) c.1453+984A>G c.962+984A>G c.316+1523A>G (n.316+1523A>G) c.514+1523A>G (n.514+1523A>G) c.*372A>G (n.*372A>G) c.3887A>G (p.Gln1296Arg) c.3857A>G (p.Gln1286Arg) c.3983A>G (p.Gln1328Arg) c.3272A>G (p.Gln1091Arg) c.3597+984A>G (n.3597+984A>G) c.3547+1523A>G (n.3547+1523A>G) c.3209A>G (p.Gln1070Arg) c.3176A>G (p.Gln1059Arg) c.3389A>G (p.Gln1130Arg) | |
| X | g.53234799T>G | CA413140278 | IQSEC2 | c.4046A>C (p.Gln1349Pro) c.1453+984A>C c.962+984A>C c.316+1523A>C (n.316+1523A>C) c.514+1523A>C (n.514+1523A>C) c.*372A>C (n.*372A>C) c.3887A>C (p.Gln1296Pro) c.3857A>C (p.Gln1286Pro) c.3983A>C (p.Gln1328Pro) c.3272A>C (p.Gln1091Pro) c.3597+984A>C (n.3597+984A>C) c.3547+1523A>C (n.3547+1523A>C) c.3209A>C (p.Gln1070Pro) c.3176A>C (p.Gln1059Pro) c.3389A>C (p.Gln1130Pro) | |
| 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 |
| X | g.53234812G>C | CA413140326 | IQSEC2 | c.4033C>G (p.Pro1345Ala) c.1453+971C>G c.962+971C>G c.316+1510C>G (n.316+1510C>G) c.514+1510C>G (n.514+1510C>G) c.*359C>G (n.*359C>G) c.3874C>G (p.Pro1292Ala) c.3844C>G (p.Pro1282Ala) c.3970C>G (p.Pro1324Ala) c.3259C>G (p.Pro1087Ala) c.3597+971C>G (n.3597+971C>G) c.3547+1510C>G (n.3547+1510C>G) c.3196C>G (p.Pro1066Ala) c.3163C>G (p.Pro1055Ala) c.3376C>G (p.Pro1126Ala) | |
| X | g.53234812G= | CA2429770604 | IQSEC2 | c.4033C= (p.Pro1345=) c.1453+971C= c.962+971C= c.316+1510C= (n.316+1510C=) c.514+1510C= (n.514+1510C=) c.*359C= (n.*359C=) c.3874C= (p.Pro1292=) c.3844C= (p.Pro1282=) c.3970C= (p.Pro1324=) c.3259C= (p.Pro1087=) c.3597+971C= (n.3597+971C=) c.3547+1510C= (n.3547+1510C=) c.3196C= (p.Pro1066=) c.3163C= (p.Pro1055=) c.3376C= (p.Pro1126=) | |
| X | g.53234812G>T | CA413140328 | IQSEC2 | c.4033C>A (p.Pro1345Thr) c.1453+971C>A c.962+971C>A c.316+1510C>A (n.316+1510C>A) c.514+1510C>A (n.514+1510C>A) c.*359C>A (n.*359C>A) c.3874C>A (p.Pro1292Thr) c.3844C>A (p.Pro1282Thr) c.3970C>A (p.Pro1324Thr) c.3259C>A (p.Pro1087Thr) c.3597+971C>A (n.3597+971C>A) c.3547+1510C>A (n.3547+1510C>A) c.3196C>A (p.Pro1066Thr) c.3163C>A (p.Pro1055Thr) c.3376C>A (p.Pro1126Thr) | |
| X | g.53234813G>A | CA516673662 | IQSEC2 | c.4032C>T (p.Pro1344=) c.1453+970C>T c.962+970C>T c.316+1509C>T (n.316+1509C>T) c.514+1509C>T (n.514+1509C>T) c.*358C>T (n.*358C>T) c.3873C>T (p.Pro1291=) c.3843C>T (p.Pro1281=) c.3969C>T (p.Pro1323=) c.3258C>T (p.Pro1086=) c.3597+970C>T (n.3597+970C>T) c.3547+1509C>T (n.3547+1509C>T) c.3195C>T (p.Pro1065=) c.3162C>T (p.Pro1054=) c.3375C>T (p.Pro1125=) | gnomAD v4 |
| X | g.53234813G>C | CA516673663 | IQSEC2 | c.4032C>G (p.Pro1344=) c.1453+970C>G c.962+970C>G c.316+1509C>G (n.316+1509C>G) c.514+1509C>G (n.514+1509C>G) c.*358C>G (n.*358C>G) c.3873C>G (p.Pro1291=) c.3843C>G (p.Pro1281=) c.3969C>G (p.Pro1323=) c.3258C>G (p.Pro1086=) c.3597+970C>G (n.3597+970C>G) c.3547+1509C>G (n.3547+1509C>G) c.3195C>G (p.Pro1065=) c.3162C>G (p.Pro1054=) c.3375C>G (p.Pro1125=) | |
| X | g.53234813G>T | CA516673665 | IQSEC2 | c.4032C>A (p.Pro1344=) c.1453+970C>A c.962+970C>A c.316+1509C>A (n.316+1509C>A) c.514+1509C>A (n.514+1509C>A) c.*358C>A (n.*358C>A) c.3873C>A (p.Pro1291=) c.3843C>A (p.Pro1281=) c.3969C>A (p.Pro1323=) c.3258C>A (p.Pro1086=) c.3597+970C>A (n.3597+970C>A) c.3547+1509C>A (n.3547+1509C>A) c.3195C>A (p.Pro1065=) c.3162C>A (p.Pro1054=) c.3375C>A (p.Pro1125=) | gnomAD v4 |
| X | g.53234814G>A | CA413140332 | IQSEC2 | c.4031C>T (p.Pro1344Leu) c.1453+969C>T c.962+969C>T c.316+1508C>T (n.316+1508C>T) c.514+1508C>T (n.514+1508C>T) c.*357C>T (n.*357C>T) c.3872C>T (p.Pro1291Leu) c.3842C>T (p.Pro1281Leu) c.3968C>T (p.Pro1323Leu) c.3257C>T (p.Pro1086Leu) c.3597+969C>T (n.3597+969C>T) c.3547+1508C>T (n.3547+1508C>T) c.3194C>T (p.Pro1065Leu) c.3161C>T (p.Pro1054Leu) c.3374C>T (p.Pro1125Leu) | ClinVar gnomAD v4 |
| X | g.53234814G>C | CA413140333 | IQSEC2 | c.4031C>G (p.Pro1344Arg) c.1453+969C>G c.962+969C>G c.316+1508C>G (n.316+1508C>G) c.514+1508C>G (n.514+1508C>G) c.*357C>G (n.*357C>G) c.3872C>G (p.Pro1291Arg) c.3842C>G (p.Pro1281Arg) c.3968C>G (p.Pro1323Arg) c.3257C>G (p.Pro1086Arg) c.3597+969C>G (n.3597+969C>G) c.3547+1508C>G (n.3547+1508C>G) c.3194C>G (p.Pro1065Arg) c.3161C>G (p.Pro1054Arg) c.3374C>G (p.Pro1125Arg) | |
| X | g.53234814G>T | CA413140335 | IQSEC2 | c.4031C>A (p.Pro1344His) c.1453+969C>A c.962+969C>A c.316+1508C>A (n.316+1508C>A) c.514+1508C>A (n.514+1508C>A) c.*357C>A (n.*357C>A) c.3872C>A (p.Pro1291His) c.3842C>A (p.Pro1281His) c.3968C>A (p.Pro1323His) c.3257C>A (p.Pro1086His) c.3597+969C>A (n.3597+969C>A) c.3547+1508C>A (n.3547+1508C>A) c.3194C>A (p.Pro1065His) c.3161C>A (p.Pro1054His) c.3374C>A (p.Pro1125His) | gnomAD v4 |
| X | g.53234815G>A | CA413140338 | IQSEC2 | c.4030C>T (p.Pro1344Ser) c.1453+968C>T c.962+968C>T c.316+1507C>T (n.316+1507C>T) c.514+1507C>T (n.514+1507C>T) c.*356C>T (n.*356C>T) c.3871C>T (p.Pro1291Ser) c.3841C>T (p.Pro1281Ser) c.3967C>T (p.Pro1323Ser) c.3256C>T (p.Pro1086Ser) c.3597+968C>T (n.3597+968C>T) c.3547+1507C>T (n.3547+1507C>T) c.3193C>T (p.Pro1065Ser) c.3160C>T (p.Pro1054Ser) c.3373C>T (p.Pro1125Ser) | gnomAD v4 |
| X | g.53234815G>C | CA413140341 | IQSEC2 | c.4030C>G (p.Pro1344Ala) c.1453+968C>G c.962+968C>G c.316+1507C>G (n.316+1507C>G) c.514+1507C>G (n.514+1507C>G) c.*356C>G (n.*356C>G) c.3871C>G (p.Pro1291Ala) c.3841C>G (p.Pro1281Ala) c.3967C>G (p.Pro1323Ala) c.3256C>G (p.Pro1086Ala) c.3597+968C>G (n.3597+968C>G) c.3547+1507C>G (n.3547+1507C>G) c.3193C>G (p.Pro1065Ala) c.3160C>G (p.Pro1054Ala) c.3373C>G (p.Pro1125Ala) | |
| X | g.53234815G>T | CA413140344 | IQSEC2 | c.4030C>A (p.Pro1344Thr) c.1453+968C>A c.962+968C>A c.316+1507C>A (n.316+1507C>A) c.514+1507C>A (n.514+1507C>A) c.*356C>A (n.*356C>A) c.3871C>A (p.Pro1291Thr) c.3841C>A (p.Pro1281Thr) c.3967C>A (p.Pro1323Thr) c.3256C>A (p.Pro1086Thr) c.3597+968C>A (n.3597+968C>A) c.3547+1507C>A (n.3547+1507C>A) c.3193C>A (p.Pro1065Thr) c.3160C>A (p.Pro1054Thr) c.3373C>A (p.Pro1125Thr) | gnomAD v4 |
| X | g.53234816A= | CA2429770605 | IQSEC2 | c.4029T= (p.Leu1343=) c.1453+967T= c.962+967T= c.316+1506T= (n.316+1506T=) c.514+1506T= (n.514+1506T=) c.*355T= (n.*355T=) c.3870T= (p.Leu1290=) c.3840T= (p.Leu1280=) c.3966T= (p.Leu1322=) c.3255T= (p.Leu1085=) c.3597+967T= (n.3597+967T=) c.3547+1506T= (n.3547+1506T=) c.3192T= (p.Leu1064=) c.3159T= (p.Leu1053=) c.3372T= (p.Leu1124=) | |
| X | g.53234816A>C | CA516673666 | IQSEC2 | c.4029T>G (p.Leu1343=) c.1453+967T>G c.962+967T>G c.316+1506T>G (n.316+1506T>G) c.514+1506T>G (n.514+1506T>G) c.*355T>G (n.*355T>G) c.3870T>G (p.Leu1290=) c.3840T>G (p.Leu1280=) c.3966T>G (p.Leu1322=) c.3255T>G (p.Leu1085=) c.3597+967T>G (n.3597+967T>G) c.3547+1506T>G (n.3547+1506T>G) c.3192T>G (p.Leu1064=) c.3159T>G (p.Leu1053=) c.3372T>G (p.Leu1124=) | |
| X | g.53234816A>G | CA16608887 | IQSEC2 | c.4029T>C (p.Leu1343=) c.1453+967T>C c.962+967T>C c.316+1506T>C (n.316+1506T>C) c.514+1506T>C (n.514+1506T>C) c.*355T>C (n.*355T>C) c.3870T>C (p.Leu1290=) c.3840T>C (p.Leu1280=) c.3966T>C (p.Leu1322=) c.3255T>C (p.Leu1085=) c.3597+967T>C (n.3597+967T>C) c.3547+1506T>C (n.3547+1506T>C) c.3192T>C (p.Leu1064=) c.3159T>C (p.Leu1053=) c.3372T>C (p.Leu1124=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53234816A>T | CA516673667 | IQSEC2 | c.4029T>A (p.Leu1343=) c.1453+967T>A c.962+967T>A c.316+1506T>A (n.316+1506T>A) c.514+1506T>A (n.514+1506T>A) c.*355T>A (n.*355T>A) c.3870T>A (p.Leu1290=) c.3840T>A (p.Leu1280=) c.3966T>A (p.Leu1322=) c.3255T>A (p.Leu1085=) c.3597+967T>A (n.3597+967T>A) c.3547+1506T>A (n.3547+1506T>A) c.3192T>A (p.Leu1064=) c.3159T>A (p.Leu1053=) c.3372T>A (p.Leu1124=) | |
| X | g.53234817A>C | CA413140347 | IQSEC2 | c.4028T>G (p.Leu1343Arg) c.1453+966T>G c.962+966T>G c.316+1505T>G (n.316+1505T>G) c.514+1505T>G (n.514+1505T>G) c.*354T>G (n.*354T>G) c.3869T>G (p.Leu1290Arg) c.3839T>G (p.Leu1280Arg) c.3965T>G (p.Leu1322Arg) c.3254T>G (p.Leu1085Arg) c.3597+966T>G (n.3597+966T>G) c.3547+1505T>G (n.3547+1505T>G) c.3191T>G (p.Leu1064Arg) c.3158T>G (p.Leu1053Arg) c.3371T>G (p.Leu1124Arg) | gnomAD v4 |
| X | g.53234817A>G | CA413140349 | IQSEC2 | c.4028T>C (p.Leu1343Pro) c.1453+966T>C c.962+966T>C c.316+1505T>C (n.316+1505T>C) c.514+1505T>C (n.514+1505T>C) c.*354T>C (n.*354T>C) c.3869T>C (p.Leu1290Pro) c.3839T>C (p.Leu1280Pro) c.3965T>C (p.Leu1322Pro) c.3254T>C (p.Leu1085Pro) c.3597+966T>C (n.3597+966T>C) c.3547+1505T>C (n.3547+1505T>C) c.3191T>C (p.Leu1064Pro) c.3158T>C (p.Leu1053Pro) c.3371T>C (p.Leu1124Pro) | |
| X | g.53234817A>T | CA413140352 | IQSEC2 | c.4028T>A (p.Leu1343His) c.1453+966T>A c.962+966T>A c.316+1505T>A (n.316+1505T>A) c.514+1505T>A (n.514+1505T>A) c.*354T>A (n.*354T>A) c.3869T>A (p.Leu1290His) c.3839T>A (p.Leu1280His) c.3965T>A (p.Leu1322His) c.3254T>A (p.Leu1085His) c.3597+966T>A (n.3597+966T>A) c.3547+1505T>A (n.3547+1505T>A) c.3191T>A (p.Leu1064His) c.3158T>A (p.Leu1053His) c.3371T>A (p.Leu1124His) | |
| X | g.53234818G>A | CA413140354 | IQSEC2 | c.4027C>T (p.Leu1343Phe) c.1453+965C>T c.962+965C>T c.316+1504C>T (n.316+1504C>T) c.514+1504C>T (n.514+1504C>T) c.*353C>T (n.*353C>T) c.3868C>T (p.Leu1290Phe) c.3838C>T (p.Leu1280Phe) c.3964C>T (p.Leu1322Phe) c.3253C>T (p.Leu1085Phe) c.3597+965C>T (n.3597+965C>T) c.3547+1504C>T (n.3547+1504C>T) c.3190C>T (p.Leu1064Phe) c.3157C>T (p.Leu1053Phe) c.3370C>T (p.Leu1124Phe) | |
| X | g.53234818G>C | CA413140357 | IQSEC2 | c.4027C>G (p.Leu1343Val) c.1453+965C>G c.962+965C>G c.316+1504C>G (n.316+1504C>G) c.514+1504C>G (n.514+1504C>G) c.*353C>G (n.*353C>G) c.3868C>G (p.Leu1290Val) c.3838C>G (p.Leu1280Val) c.3964C>G (p.Leu1322Val) c.3253C>G (p.Leu1085Val) c.3597+965C>G (n.3597+965C>G) c.3547+1504C>G (n.3547+1504C>G) c.3190C>G (p.Leu1064Val) c.3157C>G (p.Leu1053Val) c.3370C>G (p.Leu1124Val) | |
| X | g.53234818G>T | CA413140358 | IQSEC2 | c.4027C>A (p.Leu1343Ile) c.1453+965C>A c.962+965C>A c.316+1504C>A (n.316+1504C>A) c.514+1504C>A (n.514+1504C>A) c.*353C>A (n.*353C>A) c.3868C>A (p.Leu1290Ile) c.3838C>A (p.Leu1280Ile) c.3964C>A (p.Leu1322Ile) c.3253C>A (p.Leu1085Ile) c.3597+965C>A (n.3597+965C>A) c.3547+1504C>A (n.3547+1504C>A) c.3190C>A (p.Leu1064Ile) c.3157C>A (p.Leu1053Ile) c.3370C>A (p.Leu1124Ile) | gnomAD v4 |
| X | g.53234819A>C | CA516673670 | IQSEC2 | c.4026T>G (p.Ser1342=) c.1453+964T>G c.962+964T>G c.316+1503T>G (n.316+1503T>G) c.514+1503T>G (n.514+1503T>G) c.*352T>G (n.*352T>G) c.3867T>G (p.Ser1289=) c.3837T>G (p.Ser1279=) c.3963T>G (p.Ser1321=) c.3252T>G (p.Ser1084=) c.3597+964T>G (n.3597+964T>G) c.3547+1503T>G (n.3547+1503T>G) c.3189T>G (p.Ser1063=) c.3156T>G (p.Ser1052=) c.3369T>G (p.Ser1123=) | |
| X | g.53234819A>G | CA516673671 | IQSEC2 | c.4026T>C (p.Ser1342=) c.1453+964T>C c.962+964T>C c.316+1503T>C (n.316+1503T>C) c.514+1503T>C (n.514+1503T>C) c.*352T>C (n.*352T>C) c.3867T>C (p.Ser1289=) c.3837T>C (p.Ser1279=) c.3963T>C (p.Ser1321=) c.3252T>C (p.Ser1084=) c.3597+964T>C (n.3597+964T>C) c.3547+1503T>C (n.3547+1503T>C) c.3189T>C (p.Ser1063=) c.3156T>C (p.Ser1052=) c.3369T>C (p.Ser1123=) | gnomAD v4 |
| X | g.53234819A>T | CA516673672 | IQSEC2 | c.4026T>A (p.Ser1342=) c.1453+964T>A c.962+964T>A c.316+1503T>A (n.316+1503T>A) c.514+1503T>A (n.514+1503T>A) c.*352T>A (n.*352T>A) c.3867T>A (p.Ser1289=) c.3837T>A (p.Ser1279=) c.3963T>A (p.Ser1321=) c.3252T>A (p.Ser1084=) c.3597+964T>A (n.3597+964T>A) c.3547+1503T>A (n.3547+1503T>A) c.3189T>A (p.Ser1063=) c.3156T>A (p.Ser1052=) c.3369T>A (p.Ser1123=) | |
| X | g.53234820G>A | CA413140365 | IQSEC2 | c.4025C>T (p.Ser1342Phe) c.1453+963C>T c.962+963C>T c.316+1502C>T (n.316+1502C>T) c.514+1502C>T (n.514+1502C>T) c.*351C>T (n.*351C>T) c.3866C>T (p.Ser1289Phe) c.3836C>T (p.Ser1279Phe) c.3962C>T (p.Ser1321Phe) c.3251C>T (p.Ser1084Phe) c.3597+963C>T (n.3597+963C>T) c.3547+1502C>T (n.3547+1502C>T) c.3188C>T (p.Ser1063Phe) c.3155C>T (p.Ser1052Phe) c.3368C>T (p.Ser1123Phe) | |
| X | g.53234820G>C | CA413140368 | IQSEC2 | c.4025C>G (p.Ser1342Cys) c.1453+963C>G c.962+963C>G c.316+1502C>G (n.316+1502C>G) c.514+1502C>G (n.514+1502C>G) c.*351C>G (n.*351C>G) c.3866C>G (p.Ser1289Cys) c.3836C>G (p.Ser1279Cys) c.3962C>G (p.Ser1321Cys) c.3251C>G (p.Ser1084Cys) c.3597+963C>G (n.3597+963C>G) c.3547+1502C>G (n.3547+1502C>G) c.3188C>G (p.Ser1063Cys) c.3155C>G (p.Ser1052Cys) c.3368C>G (p.Ser1123Cys) | |
| X | g.53234820G>T | CA413140362 | IQSEC2 | c.4025C>A (p.Ser1342Tyr) c.1453+963C>A c.962+963C>A c.316+1502C>A (n.316+1502C>A) c.514+1502C>A (n.514+1502C>A) c.*351C>A (n.*351C>A) c.3866C>A (p.Ser1289Tyr) c.3836C>A (p.Ser1279Tyr) c.3962C>A (p.Ser1321Tyr) c.3251C>A (p.Ser1084Tyr) c.3597+963C>A (n.3597+963C>A) c.3547+1502C>A (n.3547+1502C>A) c.3188C>A (p.Ser1063Tyr) c.3155C>A (p.Ser1052Tyr) c.3368C>A (p.Ser1123Tyr) | |
| X | g.53234821A= | CA2429770606 | IQSEC2 | c.4024T= (p.Ser1342=) c.1453+962T= c.962+962T= c.316+1501T= (n.316+1501T=) c.514+1501T= (n.514+1501T=) c.*350T= (n.*350T=) c.3865T= (p.Ser1289=) c.3835T= (p.Ser1279=) c.3961T= (p.Ser1321=) c.3250T= (p.Ser1084=) c.3597+962T= (n.3597+962T=) c.3547+1501T= (n.3547+1501T=) c.3187T= (p.Ser1063=) c.3154T= (p.Ser1052=) c.3367T= (p.Ser1123=) | |
| X | g.53234821A>C | CA413140370 | IQSEC2 | c.4024T>G (p.Ser1342Ala) c.1453+962T>G c.962+962T>G c.316+1501T>G (n.316+1501T>G) c.514+1501T>G (n.514+1501T>G) c.*350T>G (n.*350T>G) c.3865T>G (p.Ser1289Ala) c.3835T>G (p.Ser1279Ala) c.3961T>G (p.Ser1321Ala) c.3250T>G (p.Ser1084Ala) c.3597+962T>G (n.3597+962T>G) c.3547+1501T>G (n.3547+1501T>G) c.3187T>G (p.Ser1063Ala) c.3154T>G (p.Ser1052Ala) c.3367T>G (p.Ser1123Ala) | |
| X | g.53234821A>G | CA413140373 | IQSEC2 | c.4024T>C (p.Ser1342Pro) c.1453+962T>C c.962+962T>C c.316+1501T>C (n.316+1501T>C) c.514+1501T>C (n.514+1501T>C) c.*350T>C (n.*350T>C) c.3865T>C (p.Ser1289Pro) c.3835T>C (p.Ser1279Pro) c.3961T>C (p.Ser1321Pro) c.3250T>C (p.Ser1084Pro) c.3597+962T>C (n.3597+962T>C) c.3547+1501T>C (n.3547+1501T>C) c.3187T>C (p.Ser1063Pro) c.3154T>C (p.Ser1052Pro) c.3367T>C (p.Ser1123Pro) | dbSNP gnomAD v4 |
| X | g.53234821A>T | CA413140375 | IQSEC2 | c.4024T>A (p.Ser1342Thr) c.1453+962T>A c.962+962T>A c.316+1501T>A (n.316+1501T>A) c.514+1501T>A (n.514+1501T>A) c.*350T>A (n.*350T>A) c.3865T>A (p.Ser1289Thr) c.3835T>A (p.Ser1279Thr) c.3961T>A (p.Ser1321Thr) c.3250T>A (p.Ser1084Thr) c.3597+962T>A (n.3597+962T>A) c.3547+1501T>A (n.3547+1501T>A) c.3187T>A (p.Ser1063Thr) c.3154T>A (p.Ser1052Thr) c.3367T>A (p.Ser1123Thr) | |
| X | g.53234822G>A | CA516673676 | IQSEC2 | c.4023C>T (p.Pro1341=) c.1453+961C>T c.962+961C>T c.316+1500C>T (n.316+1500C>T) c.514+1500C>T (n.514+1500C>T) c.*349C>T (n.*349C>T) c.3864C>T (p.Pro1288=) c.3834C>T (p.Pro1278=) c.3960C>T (p.Pro1320=) c.3249C>T (p.Pro1083=) c.3597+961C>T (n.3597+961C>T) c.3547+1500C>T (n.3547+1500C>T) c.3186C>T (p.Pro1062=) c.3153C>T (p.Pro1051=) c.3366C>T (p.Pro1122=) | ClinVar |
| X | g.53234822G>C | CA10419774 | IQSEC2 | c.4023C>G (p.Pro1341=) c.1453+961C>G c.962+961C>G c.316+1500C>G (n.316+1500C>G) c.514+1500C>G (n.514+1500C>G) c.*349C>G (n.*349C>G) c.3864C>G (p.Pro1288=) c.3834C>G (p.Pro1278=) c.3960C>G (p.Pro1320=) c.3249C>G (p.Pro1083=) c.3597+961C>G (n.3597+961C>G) c.3547+1500C>G (n.3547+1500C>G) c.3186C>G (p.Pro1062=) c.3153C>G (p.Pro1051=) c.3366C>G (p.Pro1122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53234822G= | CA2429770607 | IQSEC2 | c.4023C= (p.Pro1341=) c.1453+961C= c.962+961C= c.316+1500C= (n.316+1500C=) c.514+1500C= (n.514+1500C=) c.*349C= (n.*349C=) c.3864C= (p.Pro1288=) c.3834C= (p.Pro1278=) c.3960C= (p.Pro1320=) c.3249C= (p.Pro1083=) c.3597+961C= (n.3597+961C=) c.3547+1500C= (n.3547+1500C=) c.3186C= (p.Pro1062=) c.3153C= (p.Pro1051=) c.3366C= (p.Pro1122=) | |
| X | g.53234822G>T | CA516673677 | IQSEC2 | c.4023C>A (p.Pro1341=) c.1453+961C>A c.962+961C>A c.316+1500C>A (n.316+1500C>A) c.514+1500C>A (n.514+1500C>A) c.*349C>A (n.*349C>A) c.3864C>A (p.Pro1288=) c.3834C>A (p.Pro1278=) c.3960C>A (p.Pro1320=) c.3249C>A (p.Pro1083=) c.3597+961C>A (n.3597+961C>A) c.3547+1500C>A (n.3547+1500C>A) c.3186C>A (p.Pro1062=) c.3153C>A (p.Pro1051=) c.3366C>A (p.Pro1122=) | |
| X | g.53234823G>A | CA413140381 | IQSEC2 | c.4022C>T (p.Pro1341Leu) c.1453+960C>T c.962+960C>T c.316+1499C>T (n.316+1499C>T) c.514+1499C>T (n.514+1499C>T) c.*348C>T (n.*348C>T) c.3863C>T (p.Pro1288Leu) c.3833C>T (p.Pro1278Leu) c.3959C>T (p.Pro1320Leu) c.3248C>T (p.Pro1083Leu) c.3597+960C>T (n.3597+960C>T) c.3547+1499C>T (n.3547+1499C>T) c.3185C>T (p.Pro1062Leu) c.3152C>T (p.Pro1051Leu) c.3365C>T (p.Pro1122Leu) | gnomAD v4 |
| X | g.53234823G>C | CA413140384 | IQSEC2 | c.4022C>G (p.Pro1341Arg) c.1453+960C>G c.962+960C>G c.316+1499C>G (n.316+1499C>G) c.514+1499C>G (n.514+1499C>G) c.*348C>G (n.*348C>G) c.3863C>G (p.Pro1288Arg) c.3833C>G (p.Pro1278Arg) c.3959C>G (p.Pro1320Arg) c.3248C>G (p.Pro1083Arg) c.3597+960C>G (n.3597+960C>G) c.3547+1499C>G (n.3547+1499C>G) c.3185C>G (p.Pro1062Arg) c.3152C>G (p.Pro1051Arg) c.3365C>G (p.Pro1122Arg) | |
| X | g.53234823G>T | CA413140386 | IQSEC2 | c.4022C>A (p.Pro1341His) c.1453+960C>A c.962+960C>A c.316+1499C>A (n.316+1499C>A) c.514+1499C>A (n.514+1499C>A) c.*348C>A (n.*348C>A) c.3863C>A (p.Pro1288His) c.3833C>A (p.Pro1278His) c.3959C>A (p.Pro1320His) c.3248C>A (p.Pro1083His) c.3597+960C>A (n.3597+960C>A) c.3547+1499C>A (n.3547+1499C>A) c.3185C>A (p.Pro1062His) c.3152C>A (p.Pro1051His) c.3365C>A (p.Pro1122His) | gnomAD v4 |
| X | g.53234824G>A | CA413140388 | IQSEC2 | c.4021C>T (p.Pro1341Ser) c.1453+959C>T c.962+959C>T c.316+1498C>T (n.316+1498C>T) c.514+1498C>T (n.514+1498C>T) c.*347C>T (n.*347C>T) c.3862C>T (p.Pro1288Ser) c.3832C>T (p.Pro1278Ser) c.3958C>T (p.Pro1320Ser) c.3247C>T (p.Pro1083Ser) c.3597+959C>T (n.3597+959C>T) c.3547+1498C>T (n.3547+1498C>T) c.3184C>T (p.Pro1062Ser) c.3151C>T (p.Pro1051Ser) c.3364C>T (p.Pro1122Ser) | |
| X | g.53234824G>C | CA413140390 | IQSEC2 | c.4021C>G (p.Pro1341Ala) c.1453+959C>G c.962+959C>G c.316+1498C>G (n.316+1498C>G) c.514+1498C>G (n.514+1498C>G) c.*347C>G (n.*347C>G) c.3862C>G (p.Pro1288Ala) c.3832C>G (p.Pro1278Ala) c.3958C>G (p.Pro1320Ala) c.3247C>G (p.Pro1083Ala) c.3597+959C>G (n.3597+959C>G) c.3547+1498C>G (n.3547+1498C>G) c.3184C>G (p.Pro1062Ala) c.3151C>G (p.Pro1051Ala) c.3364C>G (p.Pro1122Ala) | |
| X | g.53234824G>T | CA413140393 | IQSEC2 | c.4021C>A (p.Pro1341Thr) c.1453+959C>A c.962+959C>A c.316+1498C>A (n.316+1498C>A) c.514+1498C>A (n.514+1498C>A) c.*347C>A (n.*347C>A) c.3862C>A (p.Pro1288Thr) c.3832C>A (p.Pro1278Thr) c.3958C>A (p.Pro1320Thr) c.3247C>A (p.Pro1083Thr) c.3597+959C>A (n.3597+959C>A) c.3547+1498C>A (n.3547+1498C>A) c.3184C>A (p.Pro1062Thr) c.3151C>A (p.Pro1051Thr) c.3364C>A (p.Pro1122Thr) | |
| X | g.53234825C>A | CA413140396 | IQSEC2 | c.4020G>T (p.Gln1340His) c.1453+958G>T c.962+958G>T c.316+1497G>T (n.316+1497G>T) c.514+1497G>T (n.514+1497G>T) c.*346G>T (n.*346G>T) c.3861G>T (p.Gln1287His) c.3831G>T (p.Gln1277His) c.3957G>T (p.Gln1319His) c.3246G>T (p.Gln1082His) c.3597+958G>T (n.3597+958G>T) c.3547+1497G>T (n.3547+1497G>T) c.3183G>T (p.Gln1061His) c.3150G>T (p.Gln1050His) c.3363G>T (p.Gln1121His) | gnomAD v4 |
| X | g.53234825C>G | CA413140398 | IQSEC2 | c.4020G>C (p.Gln1340His) c.1453+958G>C c.962+958G>C c.316+1497G>C (n.316+1497G>C) c.514+1497G>C (n.514+1497G>C) c.*346G>C (n.*346G>C) c.3861G>C (p.Gln1287His) c.3831G>C (p.Gln1277His) c.3957G>C (p.Gln1319His) c.3246G>C (p.Gln1082His) c.3597+958G>C (n.3597+958G>C) c.3547+1497G>C (n.3547+1497G>C) c.3183G>C (p.Gln1061His) c.3150G>C (p.Gln1050His) c.3363G>C (p.Gln1121His) | |
| X | g.53234825C>T | CA516673680 | IQSEC2 | c.4020G>A (p.Gln1340=) c.1453+958G>A c.962+958G>A c.316+1497G>A (n.316+1497G>A) c.514+1497G>A (n.514+1497G>A) c.*346G>A (n.*346G>A) c.3861G>A (p.Gln1287=) c.3831G>A (p.Gln1277=) c.3957G>A (p.Gln1319=) c.3246G>A (p.Gln1082=) c.3597+958G>A (n.3597+958G>A) c.3547+1497G>A (n.3547+1497G>A) c.3183G>A (p.Gln1061=) c.3150G>A (p.Gln1050=) c.3363G>A (p.Gln1121=) | |
| X | g.53234826T>A | CA413140408 | IQSEC2 | c.4019A>T (p.Gln1340Leu) c.1453+957A>T c.962+957A>T c.316+1496A>T (n.316+1496A>T) c.514+1496A>T (n.514+1496A>T) c.*345A>T (n.*345A>T) c.3860A>T (p.Gln1287Leu) c.3830A>T (p.Gln1277Leu) c.3956A>T (p.Gln1319Leu) c.3245A>T (p.Gln1082Leu) c.3597+957A>T (n.3597+957A>T) c.3547+1496A>T (n.3547+1496A>T) c.3182A>T (p.Gln1061Leu) c.3149A>T (p.Gln1050Leu) c.3362A>T (p.Gln1121Leu) | |
| X | g.53234826T>C | CA413140405 | IQSEC2 | c.4019A>G (p.Gln1340Arg) c.1453+957A>G c.962+957A>G c.316+1496A>G (n.316+1496A>G) c.514+1496A>G (n.514+1496A>G) c.*345A>G (n.*345A>G) c.3860A>G (p.Gln1287Arg) c.3830A>G (p.Gln1277Arg) c.3956A>G (p.Gln1319Arg) c.3245A>G (p.Gln1082Arg) c.3597+957A>G (n.3597+957A>G) c.3547+1496A>G (n.3547+1496A>G) c.3182A>G (p.Gln1061Arg) c.3149A>G (p.Gln1050Arg) c.3362A>G (p.Gln1121Arg) | |
| X | g.53234826T>G | CA413140402 | IQSEC2 | c.4019A>C (p.Gln1340Pro) c.1453+957A>C c.962+957A>C c.316+1496A>C (n.316+1496A>C) c.514+1496A>C (n.514+1496A>C) c.*345A>C (n.*345A>C) c.3860A>C (p.Gln1287Pro) c.3830A>C (p.Gln1277Pro) c.3956A>C (p.Gln1319Pro) c.3245A>C (p.Gln1082Pro) c.3597+957A>C (n.3597+957A>C) c.3547+1496A>C (n.3547+1496A>C) c.3182A>C (p.Gln1061Pro) c.3149A>C (p.Gln1050Pro) c.3362A>C (p.Gln1121Pro) | gnomAD v4 |
| X | g.53234827G>A | CA413140411 | IQSEC2 | c.4018C>T (p.Gln1340Ter) c.1453+956C>T c.962+956C>T c.316+1495C>T (n.316+1495C>T) c.514+1495C>T (n.514+1495C>T) c.*344C>T (n.*344C>T) c.3859C>T (p.Gln1287Ter) c.3829C>T (p.Gln1277Ter) c.3955C>T (p.Gln1319Ter) c.3244C>T (p.Gln1082Ter) c.3597+956C>T (n.3597+956C>T) c.3547+1495C>T (n.3547+1495C>T) c.3181C>T (p.Gln1061Ter) c.3148C>T (p.Gln1050Ter) c.3361C>T (p.Gln1121Ter) | ClinVar gnomAD v4 |
| X | g.53234827G>C | CA413140414 | IQSEC2 | c.4018C>G (p.Gln1340Glu) c.1453+956C>G c.962+956C>G c.316+1495C>G (n.316+1495C>G) c.514+1495C>G (n.514+1495C>G) c.*344C>G (n.*344C>G) c.3859C>G (p.Gln1287Glu) c.3829C>G (p.Gln1277Glu) c.3955C>G (p.Gln1319Glu) c.3244C>G (p.Gln1082Glu) c.3597+956C>G (n.3597+956C>G) c.3547+1495C>G (n.3547+1495C>G) c.3181C>G (p.Gln1061Glu) c.3148C>G (p.Gln1050Glu) c.3361C>G (p.Gln1121Glu) | |
| X | g.53234827G>T | CA413140416 | IQSEC2 | c.4018C>A (p.Gln1340Lys) c.1453+956C>A c.962+956C>A c.316+1495C>A (n.316+1495C>A) c.514+1495C>A (n.514+1495C>A) c.*344C>A (n.*344C>A) c.3859C>A (p.Gln1287Lys) c.3829C>A (p.Gln1277Lys) c.3955C>A (p.Gln1319Lys) c.3244C>A (p.Gln1082Lys) c.3597+956C>A (n.3597+956C>A) c.3547+1495C>A (n.3547+1495C>A) c.3181C>A (p.Gln1061Lys) c.3148C>A (p.Gln1050Lys) c.3361C>A (p.Gln1121Lys) | gnomAD v4 |
| X | g.53234828C>A | CA413140418 | IQSEC2 | c.4017G>T (p.Gln1339His) c.1453+955G>T c.962+955G>T c.316+1494G>T (n.316+1494G>T) c.514+1494G>T (n.514+1494G>T) c.*343G>T (n.*343G>T) c.3858G>T (p.Gln1286His) c.3828G>T (p.Gln1276His) c.3954G>T (p.Gln1318His) c.3243G>T (p.Gln1081His) c.3597+955G>T (n.3597+955G>T) c.3547+1494G>T (n.3547+1494G>T) c.3180G>T (p.Gln1060His) c.3147G>T (p.Gln1049His) c.3360G>T (p.Gln1120His) | |
| X | g.53234828C>G | CA413140420 | IQSEC2 | c.4017G>C (p.Gln1339His) c.1453+955G>C c.962+955G>C c.316+1494G>C (n.316+1494G>C) c.514+1494G>C (n.514+1494G>C) c.*343G>C (n.*343G>C) c.3858G>C (p.Gln1286His) c.3828G>C (p.Gln1276His) c.3954G>C (p.Gln1318His) c.3243G>C (p.Gln1081His) c.3597+955G>C (n.3597+955G>C) c.3547+1494G>C (n.3547+1494G>C) c.3180G>C (p.Gln1060His) c.3147G>C (p.Gln1049His) c.3360G>C (p.Gln1120His) | |
| X | g.53234828C>T | CA516673686 | IQSEC2 | c.4017G>A (p.Gln1339=) c.1453+955G>A c.962+955G>A c.316+1494G>A (n.316+1494G>A) c.514+1494G>A (n.514+1494G>A) c.*343G>A (n.*343G>A) c.3858G>A (p.Gln1286=) c.3828G>A (p.Gln1276=) c.3954G>A (p.Gln1318=) c.3243G>A (p.Gln1081=) c.3597+955G>A (n.3597+955G>A) c.3547+1494G>A (n.3547+1494G>A) c.3180G>A (p.Gln1060=) c.3147G>A (p.Gln1049=) c.3360G>A (p.Gln1120=) | |
| X | g.53234829T>A | CA413140423 | IQSEC2 | c.4016A>T (p.Gln1339Leu) c.1453+954A>T c.962+954A>T c.316+1493A>T (n.316+1493A>T) c.514+1493A>T (n.514+1493A>T) c.*342A>T (n.*342A>T) c.3857A>T (p.Gln1286Leu) c.3827A>T (p.Gln1276Leu) c.3953A>T (p.Gln1318Leu) c.3242A>T (p.Gln1081Leu) c.3597+954A>T (n.3597+954A>T) c.3547+1493A>T (n.3547+1493A>T) c.3179A>T (p.Gln1060Leu) c.3146A>T (p.Gln1049Leu) c.3359A>T (p.Gln1120Leu) | |
| X | g.53234829T>C | CA413140426 | IQSEC2 | c.4016A>G (p.Gln1339Arg) c.1453+954A>G c.962+954A>G c.316+1493A>G (n.316+1493A>G) c.514+1493A>G (n.514+1493A>G) c.*342A>G (n.*342A>G) c.3857A>G (p.Gln1286Arg) c.3827A>G (p.Gln1276Arg) c.3953A>G (p.Gln1318Arg) c.3242A>G (p.Gln1081Arg) c.3597+954A>G (n.3597+954A>G) c.3547+1493A>G (n.3547+1493A>G) c.3179A>G (p.Gln1060Arg) c.3146A>G (p.Gln1049Arg) c.3359A>G (p.Gln1120Arg) | |
| X | g.53234829T>G | CA413140429 | IQSEC2 | c.4016A>C (p.Gln1339Pro) c.1453+954A>C c.962+954A>C c.316+1493A>C (n.316+1493A>C) c.514+1493A>C (n.514+1493A>C) c.*342A>C (n.*342A>C) c.3857A>C (p.Gln1286Pro) c.3827A>C (p.Gln1276Pro) c.3953A>C (p.Gln1318Pro) c.3242A>C (p.Gln1081Pro) c.3597+954A>C (n.3597+954A>C) c.3547+1493A>C (n.3547+1493A>C) c.3179A>C (p.Gln1060Pro) c.3146A>C (p.Gln1049Pro) c.3359A>C (p.Gln1120Pro) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53234829T= | CA2429770608 | IQSEC2 | c.4016A= (p.Gln1339=) c.1453+954A= c.962+954A= c.316+1493A= (n.316+1493A=) c.514+1493A= (n.514+1493A=) c.*342A= (n.*342A=) c.3857A= (p.Gln1286=) c.3827A= (p.Gln1276=) c.3953A= (p.Gln1318=) c.3242A= (p.Gln1081=) c.3597+954A= (n.3597+954A=) c.3547+1493A= (n.3547+1493A=) c.3179A= (p.Gln1060=) c.3146A= (p.Gln1049=) c.3359A= (p.Gln1120=) | |
| X | g.53234830G>A | CA413140431 | IQSEC2 | c.4015C>T (p.Gln1339Ter) c.1453+953C>T c.962+953C>T c.316+1492C>T (n.316+1492C>T) c.514+1492C>T (n.514+1492C>T) c.*341C>T (n.*341C>T) c.3856C>T (p.Gln1286Ter) c.3826C>T (p.Gln1276Ter) c.3952C>T (p.Gln1318Ter) c.3241C>T (p.Gln1081Ter) c.3597+953C>T (n.3597+953C>T) c.3547+1492C>T (n.3547+1492C>T) c.3178C>T (p.Gln1060Ter) c.3145C>T (p.Gln1049Ter) c.3358C>T (p.Gln1120Ter) | ClinVar dbSNP |
| X | g.53234830G>C | CA413140434 | IQSEC2 | c.4015C>G (p.Gln1339Glu) c.1453+953C>G c.962+953C>G c.316+1492C>G (n.316+1492C>G) c.514+1492C>G (n.514+1492C>G) c.*341C>G (n.*341C>G) c.3856C>G (p.Gln1286Glu) c.3826C>G (p.Gln1276Glu) c.3952C>G (p.Gln1318Glu) c.3241C>G (p.Gln1081Glu) c.3597+953C>G (n.3597+953C>G) c.3547+1492C>G (n.3547+1492C>G) c.3178C>G (p.Gln1060Glu) c.3145C>G (p.Gln1049Glu) c.3358C>G (p.Gln1120Glu) | |
| X | g.53234830G= | CA2429770609 | IQSEC2 | c.4015C= (p.Gln1339=) c.1453+953C= c.962+953C= c.316+1492C= (n.316+1492C=) c.514+1492C= (n.514+1492C=) c.*341C= (n.*341C=) c.3856C= (p.Gln1286=) c.3826C= (p.Gln1276=) c.3952C= (p.Gln1318=) c.3241C= (p.Gln1081=) c.3597+953C= (n.3597+953C=) c.3547+1492C= (n.3547+1492C=) c.3178C= (p.Gln1060=) c.3145C= (p.Gln1049=) c.3358C= (p.Gln1120=) | |
| X | g.53234830G>T | CA413140436 | IQSEC2 | c.4015C>A (p.Gln1339Lys) c.1453+953C>A c.962+953C>A c.316+1492C>A (n.316+1492C>A) c.514+1492C>A (n.514+1492C>A) c.*341C>A (n.*341C>A) c.3856C>A (p.Gln1286Lys) c.3826C>A (p.Gln1276Lys) c.3952C>A (p.Gln1318Lys) c.3241C>A (p.Gln1081Lys) c.3597+953C>A (n.3597+953C>A) c.3547+1492C>A (n.3547+1492C>A) c.3178C>A (p.Gln1060Lys) c.3145C>A (p.Gln1049Lys) c.3358C>A (p.Gln1120Lys) | gnomAD v4 |
| X | g.53234831G>A | CA516673694 | IQSEC2 | c.4014C>T (p.Pro1338=) c.1453+952C>T c.962+952C>T c.316+1491C>T (n.316+1491C>T) c.514+1491C>T (n.514+1491C>T) c.*340C>T (n.*340C>T) c.3855C>T (p.Pro1285=) c.3825C>T (p.Pro1275=) c.3951C>T (p.Pro1317=) c.3240C>T (p.Pro1080=) c.3597+952C>T (n.3597+952C>T) c.3547+1491C>T (n.3547+1491C>T) c.3177C>T (p.Pro1059=) c.3144C>T (p.Pro1048=) c.3357C>T (p.Pro1119=) | |
| X | g.53234831G>C | CA516673695 | IQSEC2 | c.4014C>G (p.Pro1338=) c.1453+952C>G c.962+952C>G c.316+1491C>G (n.316+1491C>G) c.514+1491C>G (n.514+1491C>G) c.*340C>G (n.*340C>G) c.3855C>G (p.Pro1285=) c.3825C>G (p.Pro1275=) c.3951C>G (p.Pro1317=) c.3240C>G (p.Pro1080=) c.3597+952C>G (n.3597+952C>G) c.3547+1491C>G (n.3547+1491C>G) c.3177C>G (p.Pro1059=) c.3144C>G (p.Pro1048=) c.3357C>G (p.Pro1119=) | |
| X | g.53234831G>T | CA516673696 | IQSEC2 | c.4014C>A (p.Pro1338=) c.1453+952C>A c.962+952C>A c.316+1491C>A (n.316+1491C>A) c.514+1491C>A (n.514+1491C>A) c.*340C>A (n.*340C>A) c.3855C>A (p.Pro1285=) c.3825C>A (p.Pro1275=) c.3951C>A (p.Pro1317=) c.3240C>A (p.Pro1080=) c.3597+952C>A (n.3597+952C>A) c.3547+1491C>A (n.3547+1491C>A) c.3177C>A (p.Pro1059=) c.3144C>A (p.Pro1048=) c.3357C>A (p.Pro1119=) | gnomAD v4 |
| X | g.53234832G>A | CA413140440 | IQSEC2 | c.4013C>T (p.Pro1338Leu) c.1453+951C>T c.962+951C>T c.316+1490C>T (n.316+1490C>T) c.514+1490C>T (n.514+1490C>T) c.*339C>T (n.*339C>T) c.3854C>T (p.Pro1285Leu) c.3824C>T (p.Pro1275Leu) c.3950C>T (p.Pro1317Leu) c.3239C>T (p.Pro1080Leu) c.3597+951C>T (n.3597+951C>T) c.3547+1490C>T (n.3547+1490C>T) c.3176C>T (p.Pro1059Leu) c.3143C>T (p.Pro1048Leu) c.3356C>T (p.Pro1119Leu) | |
| X | g.53234832G>C | CA413140442 | IQSEC2 | c.4013C>G (p.Pro1338Arg) c.1453+951C>G c.962+951C>G c.316+1490C>G (n.316+1490C>G) c.514+1490C>G (n.514+1490C>G) c.*339C>G (n.*339C>G) c.3854C>G (p.Pro1285Arg) c.3824C>G (p.Pro1275Arg) c.3950C>G (p.Pro1317Arg) c.3239C>G (p.Pro1080Arg) c.3597+951C>G (n.3597+951C>G) c.3547+1490C>G (n.3547+1490C>G) c.3176C>G (p.Pro1059Arg) c.3143C>G (p.Pro1048Arg) c.3356C>G (p.Pro1119Arg) | |
| X | g.53234832G>T | CA413140443 | IQSEC2 | c.4013C>A (p.Pro1338His) c.1453+951C>A c.962+951C>A c.316+1490C>A (n.316+1490C>A) c.514+1490C>A (n.514+1490C>A) c.*339C>A (n.*339C>A) c.3854C>A (p.Pro1285His) c.3824C>A (p.Pro1275His) c.3950C>A (p.Pro1317His) c.3239C>A (p.Pro1080His) c.3597+951C>A (n.3597+951C>A) c.3547+1490C>A (n.3547+1490C>A) c.3176C>A (p.Pro1059His) c.3143C>A (p.Pro1048His) c.3356C>A (p.Pro1119His) | gnomAD v4 |
| X | g.53234833G>A | CA413140450 | IQSEC2 | c.4012C>T (p.Pro1338Ser) c.1453+950C>T c.962+950C>T c.316+1489C>T (n.316+1489C>T) c.514+1489C>T (n.514+1489C>T) c.*338C>T (n.*338C>T) c.3853C>T (p.Pro1285Ser) c.3823C>T (p.Pro1275Ser) c.3949C>T (p.Pro1317Ser) c.3238C>T (p.Pro1080Ser) c.3597+950C>T (n.3597+950C>T) c.3547+1489C>T (n.3547+1489C>T) c.3175C>T (p.Pro1059Ser) c.3142C>T (p.Pro1048Ser) c.3355C>T (p.Pro1119Ser) | gnomAD v4 |
| X | g.53234833G>C | CA413140448 | IQSEC2 | c.4012C>G (p.Pro1338Ala) c.1453+950C>G c.962+950C>G c.316+1489C>G (n.316+1489C>G) c.514+1489C>G (n.514+1489C>G) c.*338C>G (n.*338C>G) c.3853C>G (p.Pro1285Ala) c.3823C>G (p.Pro1275Ala) c.3949C>G (p.Pro1317Ala) c.3238C>G (p.Pro1080Ala) c.3597+950C>G (n.3597+950C>G) c.3547+1489C>G (n.3547+1489C>G) c.3175C>G (p.Pro1059Ala) c.3142C>G (p.Pro1048Ala) c.3355C>G (p.Pro1119Ala) | |
| X | g.53234833G>T | CA413140446 | IQSEC2 | c.4012C>A (p.Pro1338Thr) c.1453+950C>A c.962+950C>A c.316+1489C>A (n.316+1489C>A) c.514+1489C>A (n.514+1489C>A) c.*338C>A (n.*338C>A) c.3853C>A (p.Pro1285Thr) c.3823C>A (p.Pro1275Thr) c.3949C>A (p.Pro1317Thr) c.3238C>A (p.Pro1080Thr) c.3597+950C>A (n.3597+950C>A) c.3547+1489C>A (n.3547+1489C>A) c.3175C>A (p.Pro1059Thr) c.3142C>A (p.Pro1048Thr) c.3355C>A (p.Pro1119Thr) | gnomAD v4 |
| X | g.53234834del | CA2579614602 | IQSEC2 | c.4011del (p.Gln1339SerfsTer?) c.1453+949del c.962+949del c.316+1488del (n.316+1488del) c.514+1488del (n.514+1488del) c.*337del (n.*337del) c.3852del (p.Gln1286SerfsTer?) c.3822del (p.Gln1276SerfsTer?) c.3948del (p.Gln1318SerfsTer?) c.3237del (p.Gln1081SerfsTer?) c.3597+949del (n.3597+949del) c.3547+1488del (n.3547+1488del) c.3174del (p.Gln1060SerfsTer?) c.3141del (p.Gln1049SerfsTer?) c.3354del (p.Gln1120SerfsTer?) | |
| X | g.53234834T>A | CA516673703 | IQSEC2 | c.4011A>T (p.Pro1337=) c.1453+949A>T c.962+949A>T c.316+1488A>T (n.316+1488A>T) c.514+1488A>T (n.514+1488A>T) c.*337A>T (n.*337A>T) c.3852A>T (p.Pro1284=) c.3822A>T (p.Pro1274=) c.3948A>T (p.Pro1316=) c.3237A>T (p.Pro1079=) c.3597+949A>T (n.3597+949A>T) c.3547+1488A>T (n.3547+1488A>T) c.3174A>T (p.Pro1058=) c.3141A>T (p.Pro1047=) c.3354A>T (p.Pro1118=) | |
| X | g.53234834T>C | CA516673704 | IQSEC2 | c.4011A>G (p.Pro1337=) c.1453+949A>G c.962+949A>G c.316+1488A>G (n.316+1488A>G) c.514+1488A>G (n.514+1488A>G) c.*337A>G (n.*337A>G) c.3852A>G (p.Pro1284=) c.3822A>G (p.Pro1274=) c.3948A>G (p.Pro1316=) c.3237A>G (p.Pro1079=) c.3597+949A>G (n.3597+949A>G) c.3547+1488A>G (n.3547+1488A>G) c.3174A>G (p.Pro1058=) c.3141A>G (p.Pro1047=) c.3354A>G (p.Pro1118=) | |
| X | g.53234834T>G | CA516673705 | IQSEC2 | c.4011A>C (p.Pro1337=) c.1453+949A>C c.962+949A>C c.316+1488A>C (n.316+1488A>C) c.514+1488A>C (n.514+1488A>C) c.*337A>C (n.*337A>C) c.3852A>C (p.Pro1284=) c.3822A>C (p.Pro1274=) c.3948A>C (p.Pro1316=) c.3237A>C (p.Pro1079=) c.3597+949A>C (n.3597+949A>C) c.3547+1488A>C (n.3547+1488A>C) c.3174A>C (p.Pro1058=) c.3141A>C (p.Pro1047=) c.3354A>C (p.Pro1118=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.53234834T= | CA2429770610 | IQSEC2 | c.4011A= (p.Pro1337=) c.1453+949A= c.962+949A= c.316+1488A= (n.316+1488A=) c.514+1488A= (n.514+1488A=) c.*337A= (n.*337A=) c.3852A= (p.Pro1284=) c.3822A= (p.Pro1274=) c.3948A= (p.Pro1316=) c.3237A= (p.Pro1079=) c.3597+949A= (n.3597+949A=) c.3547+1488A= (n.3547+1488A=) c.3174A= (p.Pro1058=) c.3141A= (p.Pro1047=) c.3354A= (p.Pro1118=) | |
| X | g.53234835G>A | CA413140452 | IQSEC2 | c.4010C>T (p.Pro1337Leu) c.1453+948C>T c.962+948C>T c.316+1487C>T (n.316+1487C>T) c.514+1487C>T (n.514+1487C>T) c.*336C>T (n.*336C>T) c.3851C>T (p.Pro1284Leu) c.3821C>T (p.Pro1274Leu) c.3947C>T (p.Pro1316Leu) c.3236C>T (p.Pro1079Leu) c.3597+948C>T (n.3597+948C>T) c.3547+1487C>T (n.3547+1487C>T) c.3173C>T (p.Pro1058Leu) c.3140C>T (p.Pro1047Leu) c.3353C>T (p.Pro1118Leu) | |
| X | g.53234835G>C | CA413140454 | IQSEC2 | c.4010C>G (p.Pro1337Arg) c.1453+948C>G c.962+948C>G c.316+1487C>G (n.316+1487C>G) c.514+1487C>G (n.514+1487C>G) c.*336C>G (n.*336C>G) c.3851C>G (p.Pro1284Arg) c.3821C>G (p.Pro1274Arg) c.3947C>G (p.Pro1316Arg) c.3236C>G (p.Pro1079Arg) c.3597+948C>G (n.3597+948C>G) c.3547+1487C>G (n.3547+1487C>G) c.3173C>G (p.Pro1058Arg) c.3140C>G (p.Pro1047Arg) c.3353C>G (p.Pro1118Arg) | |
| X | g.53234835G>T | CA413140457 | IQSEC2 | c.4010C>A (p.Pro1337Gln) c.1453+948C>A c.962+948C>A c.316+1487C>A (n.316+1487C>A) c.514+1487C>A (n.514+1487C>A) c.*336C>A (n.*336C>A) c.3851C>A (p.Pro1284Gln) c.3821C>A (p.Pro1274Gln) c.3947C>A (p.Pro1316Gln) c.3236C>A (p.Pro1079Gln) c.3597+948C>A (n.3597+948C>A) c.3547+1487C>A (n.3547+1487C>A) c.3173C>A (p.Pro1058Gln) c.3140C>A (p.Pro1047Gln) c.3353C>A (p.Pro1118Gln) | |
| X | g.53234837del | CA2579614603 | IQSEC2 | c.4010del (p.Pro1337HisfsTer?) c.1453+948del c.962+948del c.316+1487del (n.316+1487del) c.514+1487del (n.514+1487del) c.*336del (n.*336del) c.3851del (p.Pro1284HisfsTer?) c.3821del (p.Pro1274HisfsTer?) c.3947del (p.Pro1316HisfsTer?) c.3236del (p.Pro1079HisfsTer?) c.3597+948del (n.3597+948del) c.3547+1487del (n.3547+1487del) c.3173del (p.Pro1058HisfsTer?) c.3140del (p.Pro1047HisfsTer?) c.3353del (p.Pro1118HisfsTer?) | |
| X | g.53234836G>A | CA413140461 | IQSEC2 | c.4009C>T (p.Pro1337Ser) c.1453+947C>T c.962+947C>T c.316+1486C>T (n.316+1486C>T) c.514+1486C>T (n.514+1486C>T) c.*335C>T (n.*335C>T) c.3850C>T (p.Pro1284Ser) c.3820C>T (p.Pro1274Ser) c.3946C>T (p.Pro1316Ser) c.3235C>T (p.Pro1079Ser) c.3597+947C>T (n.3597+947C>T) c.3547+1486C>T (n.3547+1486C>T) c.3172C>T (p.Pro1058Ser) c.3139C>T (p.Pro1047Ser) c.3352C>T (p.Pro1118Ser) | |
| X | g.53234836G>C | CA413140464 | IQSEC2 | c.4009C>G (p.Pro1337Ala) c.1453+947C>G c.962+947C>G c.316+1486C>G (n.316+1486C>G) c.514+1486C>G (n.514+1486C>G) c.*335C>G (n.*335C>G) c.3850C>G (p.Pro1284Ala) c.3820C>G (p.Pro1274Ala) c.3946C>G (p.Pro1316Ala) c.3235C>G (p.Pro1079Ala) c.3597+947C>G (n.3597+947C>G) c.3547+1486C>G (n.3547+1486C>G) c.3172C>G (p.Pro1058Ala) c.3139C>G (p.Pro1047Ala) c.3352C>G (p.Pro1118Ala) | |
| X | g.53234836G>T | CA413140465 | IQSEC2 | c.4009C>A (p.Pro1337Thr) c.1453+947C>A c.962+947C>A c.316+1486C>A (n.316+1486C>A) c.514+1486C>A (n.514+1486C>A) c.*335C>A (n.*335C>A) c.3850C>A (p.Pro1284Thr) c.3820C>A (p.Pro1274Thr) c.3946C>A (p.Pro1316Thr) c.3235C>A (p.Pro1079Thr) c.3597+947C>A (n.3597+947C>A) c.3547+1486C>A (n.3547+1486C>A) c.3172C>A (p.Pro1058Thr) c.3139C>A (p.Pro1047Thr) c.3352C>A (p.Pro1118Thr) | |
| X | g.53234837G>A | CA516673713 | IQSEC2 | c.4008C>T (p.Leu1336=) c.1453+946C>T c.962+946C>T c.316+1485C>T (n.316+1485C>T) c.514+1485C>T (n.514+1485C>T) c.*334C>T (n.*334C>T) c.3849C>T (p.Leu1283=) c.3819C>T (p.Leu1273=) c.3945C>T (p.Leu1315=) c.3234C>T (p.Leu1078=) c.3597+946C>T (n.3597+946C>T) c.3547+1485C>T (n.3547+1485C>T) c.3171C>T (p.Leu1057=) c.3138C>T (p.Leu1046=) c.3351C>T (p.Leu1117=) | |
| X | g.53234837G>C | CA516673711 | IQSEC2 | c.4008C>G (p.Leu1336=) c.1453+946C>G c.962+946C>G c.316+1485C>G (n.316+1485C>G) c.514+1485C>G (n.514+1485C>G) c.*334C>G (n.*334C>G) c.3849C>G (p.Leu1283=) c.3819C>G (p.Leu1273=) c.3945C>G (p.Leu1315=) c.3234C>G (p.Leu1078=) c.3597+946C>G (n.3597+946C>G) c.3547+1485C>G (n.3547+1485C>G) c.3171C>G (p.Leu1057=) c.3138C>G (p.Leu1046=) c.3351C>G (p.Leu1117=) | ClinVar dbSNP |
| X | g.53234837G= | CA2429770611 | IQSEC2 | c.4008C= (p.Leu1336=) c.1453+946C= c.962+946C= c.316+1485C= (n.316+1485C=) c.514+1485C= (n.514+1485C=) c.*334C= (n.*334C=) c.3849C= (p.Leu1283=) c.3819C= (p.Leu1273=) c.3945C= (p.Leu1315=) c.3234C= (p.Leu1078=) c.3597+946C= (n.3597+946C=) c.3547+1485C= (n.3547+1485C=) c.3171C= (p.Leu1057=) c.3138C= (p.Leu1046=) c.3351C= (p.Leu1117=) | |
| X | g.53234837G>T | CA516673709 | IQSEC2 | c.4008C>A (p.Leu1336=) c.1453+946C>A c.962+946C>A c.316+1485C>A (n.316+1485C>A) c.514+1485C>A (n.514+1485C>A) c.*334C>A (n.*334C>A) c.3849C>A (p.Leu1283=) c.3819C>A (p.Leu1273=) c.3945C>A (p.Leu1315=) c.3234C>A (p.Leu1078=) c.3597+946C>A (n.3597+946C>A) c.3547+1485C>A (n.3547+1485C>A) c.3171C>A (p.Leu1057=) c.3138C>A (p.Leu1046=) c.3351C>A (p.Leu1117=) | gnomAD v4 |
| X | g.53234838A= | CA2429770612 | IQSEC2 | c.4007T= (p.Leu1336=) c.1453+945T= c.962+945T= c.316+1484T= (n.316+1484T=) c.514+1484T= (n.514+1484T=) c.*333T= (n.*333T=) c.3848T= (p.Leu1283=) c.3818T= (p.Leu1273=) c.3944T= (p.Leu1315=) c.3233T= (p.Leu1078=) c.3597+945T= (n.3597+945T=) c.3547+1484T= (n.3547+1484T=) c.3170T= (p.Leu1057=) c.3137T= (p.Leu1046=) c.3350T= (p.Leu1117=) | |
| X | g.53234838A>C | CA413140471 | IQSEC2 | c.4007T>G (p.Leu1336Arg) c.1453+945T>G c.962+945T>G c.316+1484T>G (n.316+1484T>G) c.514+1484T>G (n.514+1484T>G) c.*333T>G (n.*333T>G) c.3848T>G (p.Leu1283Arg) c.3818T>G (p.Leu1273Arg) c.3944T>G (p.Leu1315Arg) c.3233T>G (p.Leu1078Arg) c.3597+945T>G (n.3597+945T>G) c.3547+1484T>G (n.3547+1484T>G) c.3170T>G (p.Leu1057Arg) c.3137T>G (p.Leu1046Arg) c.3350T>G (p.Leu1117Arg) | |
| X | g.53234838A>G | CA413140466 | IQSEC2 | c.4007T>C (p.Leu1336Pro) c.1453+945T>C c.962+945T>C c.316+1484T>C (n.316+1484T>C) c.514+1484T>C (n.514+1484T>C) c.*333T>C (n.*333T>C) c.3848T>C (p.Leu1283Pro) c.3818T>C (p.Leu1273Pro) c.3944T>C (p.Leu1315Pro) c.3233T>C (p.Leu1078Pro) c.3597+945T>C (n.3597+945T>C) c.3547+1484T>C (n.3547+1484T>C) c.3170T>C (p.Leu1057Pro) c.3137T>C (p.Leu1046Pro) c.3350T>C (p.Leu1117Pro) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.53234838A>T | CA413140469 | IQSEC2 | c.4007T>A (p.Leu1336His) c.1453+945T>A c.962+945T>A c.316+1484T>A (n.316+1484T>A) c.514+1484T>A (n.514+1484T>A) c.*333T>A (n.*333T>A) c.3848T>A (p.Leu1283His) c.3818T>A (p.Leu1273His) c.3944T>A (p.Leu1315His) c.3233T>A (p.Leu1078His) c.3597+945T>A (n.3597+945T>A) c.3547+1484T>A (n.3547+1484T>A) c.3170T>A (p.Leu1057His) c.3137T>A (p.Leu1046His) c.3350T>A (p.Leu1117His) | |
| X | g.53234839G>A | CA413140473 | IQSEC2 | c.4006C>T (p.Leu1336Phe) c.1453+944C>T c.962+944C>T c.316+1483C>T (n.316+1483C>T) c.514+1483C>T (n.514+1483C>T) c.*332C>T (n.*332C>T) c.3847C>T (p.Leu1283Phe) c.3817C>T (p.Leu1273Phe) c.3943C>T (p.Leu1315Phe) c.3232C>T (p.Leu1078Phe) c.3597+944C>T (n.3597+944C>T) c.3547+1483C>T (n.3547+1483C>T) c.3169C>T (p.Leu1057Phe) c.3136C>T (p.Leu1046Phe) c.3349C>T (p.Leu1117Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53234839G>C | CA413140476 | IQSEC2 | c.4006C>G (p.Leu1336Val) c.1453+944C>G c.962+944C>G c.316+1483C>G (n.316+1483C>G) c.514+1483C>G (n.514+1483C>G) c.*332C>G (n.*332C>G) c.3847C>G (p.Leu1283Val) c.3817C>G (p.Leu1273Val) c.3943C>G (p.Leu1315Val) c.3232C>G (p.Leu1078Val) c.3597+944C>G (n.3597+944C>G) c.3547+1483C>G (n.3547+1483C>G) c.3169C>G (p.Leu1057Val) c.3136C>G (p.Leu1046Val) c.3349C>G (p.Leu1117Val) | |
| X | g.53234839G= | CA2429770613 | IQSEC2 | c.4006C= (p.Leu1336=) c.1453+944C= c.962+944C= c.316+1483C= (n.316+1483C=) c.514+1483C= (n.514+1483C=) c.*332C= (n.*332C=) c.3847C= (p.Leu1283=) c.3817C= (p.Leu1273=) c.3943C= (p.Leu1315=) c.3232C= (p.Leu1078=) c.3597+944C= (n.3597+944C=) c.3547+1483C= (n.3547+1483C=) c.3169C= (p.Leu1057=) c.3136C= (p.Leu1046=) c.3349C= (p.Leu1117=) | |
| X | g.53234839G>T | CA413140478 | IQSEC2 | c.4006C>A (p.Leu1336Ile) c.1453+944C>A c.962+944C>A c.316+1483C>A (n.316+1483C>A) c.514+1483C>A (n.514+1483C>A) c.*332C>A (n.*332C>A) c.3847C>A (p.Leu1283Ile) c.3817C>A (p.Leu1273Ile) c.3943C>A (p.Leu1315Ile) c.3232C>A (p.Leu1078Ile) c.3597+944C>A (n.3597+944C>A) c.3547+1483C>A (n.3547+1483C>A) c.3169C>A (p.Leu1057Ile) c.3136C>A (p.Leu1046Ile) c.3349C>A (p.Leu1117Ile) | gnomAD v4 |
| X | g.53234840G>A | CA516673718 | IQSEC2 | c.4005C>T (p.Tyr1335=) c.1453+943C>T c.962+943C>T c.316+1482C>T (n.316+1482C>T) c.514+1482C>T (n.514+1482C>T) c.*331C>T (n.*331C>T) c.3846C>T (p.Tyr1282=) c.3816C>T (p.Tyr1272=) c.3942C>T (p.Tyr1314=) c.3231C>T (p.Tyr1077=) c.3597+943C>T (n.3597+943C>T) c.3547+1482C>T (n.3547+1482C>T) c.3168C>T (p.Tyr1056=) c.3135C>T (p.Tyr1045=) c.3348C>T (p.Tyr1116=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53234840G>C | CA413140482 | IQSEC2 | c.4005C>G (p.Tyr1335Ter) c.1453+943C>G c.962+943C>G c.316+1482C>G (n.316+1482C>G) c.514+1482C>G (n.514+1482C>G) c.*331C>G (n.*331C>G) c.3846C>G (p.Tyr1282Ter) c.3816C>G (p.Tyr1272Ter) c.3942C>G (p.Tyr1314Ter) c.3231C>G (p.Tyr1077Ter) c.3597+943C>G (n.3597+943C>G) c.3547+1482C>G (n.3547+1482C>G) c.3168C>G (p.Tyr1056Ter) c.3135C>G (p.Tyr1045Ter) c.3348C>G (p.Tyr1116Ter) | |
| X | g.53234840G= | CA2429770614 | IQSEC2 | c.4005C= (p.Tyr1335=) c.1453+943C= c.962+943C= c.316+1482C= (n.316+1482C=) c.514+1482C= (n.514+1482C=) c.*331C= (n.*331C=) c.3846C= (p.Tyr1282=) c.3816C= (p.Tyr1272=) c.3942C= (p.Tyr1314=) c.3231C= (p.Tyr1077=) c.3597+943C= (n.3597+943C=) c.3547+1482C= (n.3547+1482C=) c.3168C= (p.Tyr1056=) c.3135C= (p.Tyr1045=) c.3348C= (p.Tyr1116=) | |
| X | g.53234840G>T | CA413140487 | IQSEC2 | c.4005C>A (p.Tyr1335Ter) c.1453+943C>A c.962+943C>A c.316+1482C>A (n.316+1482C>A) c.514+1482C>A (n.514+1482C>A) c.*331C>A (n.*331C>A) c.3846C>A (p.Tyr1282Ter) c.3816C>A (p.Tyr1272Ter) c.3942C>A (p.Tyr1314Ter) c.3231C>A (p.Tyr1077Ter) c.3597+943C>A (n.3597+943C>A) c.3547+1482C>A (n.3547+1482C>A) c.3168C>A (p.Tyr1056Ter) c.3135C>A (p.Tyr1045Ter) c.3348C>A (p.Tyr1116Ter) | gnomAD v4 |
| X | g.53234841_53234843del | CA2579614607 | IQSEC2 | c.4003_4005del (p.Tyr1335del) c.1453+941_1453+943del c.962+941_962+943del c.316+1480_316+1482del (n.316+1480_316+1482del) c.514+1480_514+1482del (n.514+1480_514+1482del) c.*329_*331del (n.*329_*331del) c.3844_3846del (p.Tyr1282del) c.3814_3816del (p.Tyr1272del) c.3940_3942del (p.Tyr1314del) c.3229_3231del (p.Tyr1077del) c.3597+941_3597+943del (n.3597+941_3597+943del) c.3547+1480_3547+1482del (n.3547+1480_3547+1482del) c.3166_3168del (p.Tyr1056del) c.3133_3135del (p.Tyr1045del) c.3346_3348del (p.Tyr1116del) | |
| X | g.53234841T>A | CA413140493 | IQSEC2 | c.4004A>T (p.Tyr1335Phe) c.1453+942A>T c.962+942A>T c.316+1481A>T (n.316+1481A>T) c.514+1481A>T (n.514+1481A>T) c.*330A>T (n.*330A>T) c.3845A>T (p.Tyr1282Phe) c.3815A>T (p.Tyr1272Phe) c.3941A>T (p.Tyr1314Phe) c.3230A>T (p.Tyr1077Phe) c.3597+942A>T (n.3597+942A>T) c.3547+1481A>T (n.3547+1481A>T) c.3167A>T (p.Tyr1056Phe) c.3134A>T (p.Tyr1045Phe) c.3347A>T (p.Tyr1116Phe) | |
| X | g.53234841T>C | CA413140490 | IQSEC2 | c.4004A>G (p.Tyr1335Cys) c.1453+942A>G c.962+942A>G c.316+1481A>G (n.316+1481A>G) c.514+1481A>G (n.514+1481A>G) c.*330A>G (n.*330A>G) c.3845A>G (p.Tyr1282Cys) c.3815A>G (p.Tyr1272Cys) c.3941A>G (p.Tyr1314Cys) c.3230A>G (p.Tyr1077Cys) c.3597+942A>G (n.3597+942A>G) c.3547+1481A>G (n.3547+1481A>G) c.3167A>G (p.Tyr1056Cys) c.3134A>G (p.Tyr1045Cys) c.3347A>G (p.Tyr1116Cys) | gnomAD v4 |
| X | g.53234841T>G | CA413140492 | IQSEC2 | c.4004A>C (p.Tyr1335Ser) c.1453+942A>C c.962+942A>C c.316+1481A>C (n.316+1481A>C) c.514+1481A>C (n.514+1481A>C) c.*330A>C (n.*330A>C) c.3845A>C (p.Tyr1282Ser) c.3815A>C (p.Tyr1272Ser) c.3941A>C (p.Tyr1314Ser) c.3230A>C (p.Tyr1077Ser) c.3597+942A>C (n.3597+942A>C) c.3547+1481A>C (n.3547+1481A>C) c.3167A>C (p.Tyr1056Ser) c.3134A>C (p.Tyr1045Ser) c.3347A>C (p.Tyr1116Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53234841T= | CA2429770615 | IQSEC2 | c.4004A= (p.Tyr1335=) c.1453+942A= c.962+942A= c.316+1481A= (n.316+1481A=) c.514+1481A= (n.514+1481A=) c.*330A= (n.*330A=) c.3845A= (p.Tyr1282=) c.3815A= (p.Tyr1272=) c.3941A= (p.Tyr1314=) c.3230A= (p.Tyr1077=) c.3597+942A= (n.3597+942A=) c.3547+1481A= (n.3547+1481A=) c.3167A= (p.Tyr1056=) c.3134A= (p.Tyr1045=) c.3347A= (p.Tyr1116=) | |
| X | g.53234842A= | CA2429770616 | IQSEC2 | c.4003T= (p.Tyr1335=) c.1453+941T= c.962+941T= c.316+1480T= (n.316+1480T=) c.514+1480T= (n.514+1480T=) c.*329T= (n.*329T=) c.3844T= (p.Tyr1282=) c.3814T= (p.Tyr1272=) c.3940T= (p.Tyr1314=) c.3229T= (p.Tyr1077=) c.3597+941T= (n.3597+941T=) c.3547+1480T= (n.3547+1480T=) c.3166T= (p.Tyr1056=) c.3133T= (p.Tyr1045=) c.3346T= (p.Tyr1116=) | |
| X | g.53234842A>C | CA413140496 | IQSEC2 | c.4003T>G (p.Tyr1335Asp) c.1453+941T>G c.962+941T>G c.316+1480T>G (n.316+1480T>G) c.514+1480T>G (n.514+1480T>G) c.*329T>G (n.*329T>G) c.3844T>G (p.Tyr1282Asp) c.3814T>G (p.Tyr1272Asp) c.3940T>G (p.Tyr1314Asp) c.3229T>G (p.Tyr1077Asp) c.3597+941T>G (n.3597+941T>G) c.3547+1480T>G (n.3547+1480T>G) c.3166T>G (p.Tyr1056Asp) c.3133T>G (p.Tyr1045Asp) c.3346T>G (p.Tyr1116Asp) | gnomAD v4 |
| X | g.53234842A>G | CA413140498 | IQSEC2 | c.4003T>C (p.Tyr1335His) c.1453+941T>C c.962+941T>C c.316+1480T>C (n.316+1480T>C) c.514+1480T>C (n.514+1480T>C) c.*329T>C (n.*329T>C) c.3844T>C (p.Tyr1282His) c.3814T>C (p.Tyr1272His) c.3940T>C (p.Tyr1314His) c.3229T>C (p.Tyr1077His) c.3597+941T>C (n.3597+941T>C) c.3547+1480T>C (n.3547+1480T>C) c.3166T>C (p.Tyr1056His) c.3133T>C (p.Tyr1045His) c.3346T>C (p.Tyr1116His) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.53234842A>T | CA413140501 | IQSEC2 | c.4003T>A (p.Tyr1335Asn) c.1453+941T>A c.962+941T>A c.316+1480T>A (n.316+1480T>A) c.514+1480T>A (n.514+1480T>A) c.*329T>A (n.*329T>A) c.3844T>A (p.Tyr1282Asn) c.3814T>A (p.Tyr1272Asn) c.3940T>A (p.Tyr1314Asn) c.3229T>A (p.Tyr1077Asn) c.3597+941T>A (n.3597+941T>A) c.3547+1480T>A (n.3547+1480T>A) c.3166T>A (p.Tyr1056Asn) c.3133T>A (p.Tyr1045Asn) c.3346T>A (p.Tyr1116Asn) | gnomAD v4 |
| X | g.53234843G>A | CA516673723 | IQSEC2 | c.4002C>T (p.Pro1334=) c.1453+940C>T c.962+940C>T c.316+1479C>T (n.316+1479C>T) c.514+1479C>T (n.514+1479C>T) c.*328C>T (n.*328C>T) c.3843C>T (p.Pro1281=) c.3813C>T (p.Pro1271=) c.3939C>T (p.Pro1313=) c.3228C>T (p.Pro1076=) c.3597+940C>T (n.3597+940C>T) c.3547+1479C>T (n.3547+1479C>T) c.3165C>T (p.Pro1055=) c.3132C>T (p.Pro1044=) c.3345C>T (p.Pro1115=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.53234843G>C | CA516673728 | IQSEC2 | c.4002C>G (p.Pro1334=) c.1453+940C>G c.962+940C>G c.316+1479C>G (n.316+1479C>G) c.514+1479C>G (n.514+1479C>G) c.*328C>G (n.*328C>G) c.3843C>G (p.Pro1281=) c.3813C>G (p.Pro1271=) c.3939C>G (p.Pro1313=) c.3228C>G (p.Pro1076=) c.3597+940C>G (n.3597+940C>G) c.3547+1479C>G (n.3547+1479C>G) c.3165C>G (p.Pro1055=) c.3132C>G (p.Pro1044=) c.3345C>G (p.Pro1115=) | |
| X | g.53234843G= | CA2429770617 | IQSEC2 | c.4002C= (p.Pro1334=) c.1453+940C= c.962+940C= c.316+1479C= (n.316+1479C=) c.514+1479C= (n.514+1479C=) c.*328C= (n.*328C=) c.3843C= (p.Pro1281=) c.3813C= (p.Pro1271=) c.3939C= (p.Pro1313=) c.3228C= (p.Pro1076=) c.3597+940C= (n.3597+940C=) c.3547+1479C= (n.3547+1479C=) c.3165C= (p.Pro1055=) c.3132C= (p.Pro1044=) c.3345C= (p.Pro1115=) | |
| X | g.53234843G>T | CA516673725 | IQSEC2 | c.4002C>A (p.Pro1334=) c.1453+940C>A c.962+940C>A c.316+1479C>A (n.316+1479C>A) c.514+1479C>A (n.514+1479C>A) c.*328C>A (n.*328C>A) c.3843C>A (p.Pro1281=) c.3813C>A (p.Pro1271=) c.3939C>A (p.Pro1313=) c.3228C>A (p.Pro1076=) c.3597+940C>A (n.3597+940C>A) c.3547+1479C>A (n.3547+1479C>A) c.3165C>A (p.Pro1055=) c.3132C>A (p.Pro1044=) c.3345C>A (p.Pro1115=) | |
| X | g.53234844G>A | CA413140505 | IQSEC2 | c.4001C>T (p.Pro1334Leu) c.1453+939C>T c.962+939C>T c.316+1478C>T (n.316+1478C>T) c.514+1478C>T (n.514+1478C>T) c.*327C>T (n.*327C>T) c.3842C>T (p.Pro1281Leu) c.3812C>T (p.Pro1271Leu) c.3938C>T (p.Pro1313Leu) c.3227C>T (p.Pro1076Leu) c.3597+939C>T (n.3597+939C>T) c.3547+1478C>T (n.3547+1478C>T) c.3164C>T (p.Pro1055Leu) c.3131C>T (p.Pro1044Leu) c.3344C>T (p.Pro1115Leu) | gnomAD v4 |
| X | g.53234844G>C | CA413140506 | IQSEC2 | c.4001C>G (p.Pro1334Arg) c.1453+939C>G c.962+939C>G c.316+1478C>G (n.316+1478C>G) c.514+1478C>G (n.514+1478C>G) c.*327C>G (n.*327C>G) c.3842C>G (p.Pro1281Arg) c.3812C>G (p.Pro1271Arg) c.3938C>G (p.Pro1313Arg) c.3227C>G (p.Pro1076Arg) c.3597+939C>G (n.3597+939C>G) c.3547+1478C>G (n.3547+1478C>G) c.3164C>G (p.Pro1055Arg) c.3131C>G (p.Pro1044Arg) c.3344C>G (p.Pro1115Arg) | |
| X | g.53234844G>T | CA413140507 | IQSEC2 | c.4001C>A (p.Pro1334His) c.1453+939C>A c.962+939C>A c.316+1478C>A (n.316+1478C>A) c.514+1478C>A (n.514+1478C>A) c.*327C>A (n.*327C>A) c.3842C>A (p.Pro1281His) c.3812C>A (p.Pro1271His) c.3938C>A (p.Pro1313His) c.3227C>A (p.Pro1076His) c.3597+939C>A (n.3597+939C>A) c.3547+1478C>A (n.3547+1478C>A) c.3164C>A (p.Pro1055His) c.3131C>A (p.Pro1044His) c.3344C>A (p.Pro1115His) | |
| X | g.53234845G>A | CA413140511 | IQSEC2 | c.4000C>T (p.Pro1334Ser) c.1453+938C>T c.962+938C>T c.316+1477C>T (n.316+1477C>T) c.514+1477C>T (n.514+1477C>T) c.*326C>T (n.*326C>T) c.3841C>T (p.Pro1281Ser) c.3811C>T (p.Pro1271Ser) c.3937C>T (p.Pro1313Ser) c.3226C>T (p.Pro1076Ser) c.3597+938C>T (n.3597+938C>T) c.3547+1477C>T (n.3547+1477C>T) c.3163C>T (p.Pro1055Ser) c.3130C>T (p.Pro1044Ser) c.3343C>T (p.Pro1115Ser) | gnomAD v4 |
| X | g.53234845G>C | CA413140514 | IQSEC2 | c.4000C>G (p.Pro1334Ala) c.1453+938C>G c.962+938C>G c.316+1477C>G (n.316+1477C>G) c.514+1477C>G (n.514+1477C>G) c.*326C>G (n.*326C>G) c.3841C>G (p.Pro1281Ala) c.3811C>G (p.Pro1271Ala) c.3937C>G (p.Pro1313Ala) c.3226C>G (p.Pro1076Ala) c.3597+938C>G (n.3597+938C>G) c.3547+1477C>G (n.3547+1477C>G) c.3163C>G (p.Pro1055Ala) c.3130C>G (p.Pro1044Ala) c.3343C>G (p.Pro1115Ala) | |
| X | g.53234845G>T | CA413140517 | IQSEC2 | c.4000C>A (p.Pro1334Thr) c.1453+938C>A c.962+938C>A c.316+1477C>A (n.316+1477C>A) c.514+1477C>A (n.514+1477C>A) c.*326C>A (n.*326C>A) c.3841C>A (p.Pro1281Thr) c.3811C>A (p.Pro1271Thr) c.3937C>A (p.Pro1313Thr) c.3226C>A (p.Pro1076Thr) c.3597+938C>A (n.3597+938C>A) c.3547+1477C>A (n.3547+1477C>A) c.3163C>A (p.Pro1055Thr) c.3130C>A (p.Pro1044Thr) c.3343C>A (p.Pro1115Thr) | |
| X | g.53234846T>A | CA516673732 | IQSEC2 | c.3999A>T (p.Pro1333=) c.1453+937A>T c.962+937A>T c.316+1476A>T (n.316+1476A>T) c.514+1476A>T (n.514+1476A>T) c.*325A>T (n.*325A>T) c.3840A>T (p.Pro1280=) c.3810A>T (p.Pro1270=) c.3936A>T (p.Pro1312=) c.3225A>T (p.Pro1075=) c.3597+937A>T (n.3597+937A>T) c.3547+1476A>T (n.3547+1476A>T) c.3162A>T (p.Pro1054=) c.3129A>T (p.Pro1043=) c.3342A>T (p.Pro1114=) | ClinVar |
| X | g.53234846T>C | CA516673734 | IQSEC2 | c.3999A>G (p.Pro1333=) c.1453+937A>G c.962+937A>G c.316+1476A>G (n.316+1476A>G) c.514+1476A>G (n.514+1476A>G) c.*325A>G (n.*325A>G) c.3840A>G (p.Pro1280=) c.3810A>G (p.Pro1270=) c.3936A>G (p.Pro1312=) c.3225A>G (p.Pro1075=) c.3597+937A>G (n.3597+937A>G) c.3547+1476A>G (n.3547+1476A>G) c.3162A>G (p.Pro1054=) c.3129A>G (p.Pro1043=) c.3342A>G (p.Pro1114=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53234846T>G | CA516673735 | IQSEC2 | c.3999A>C (p.Pro1333=) c.1453+937A>C c.962+937A>C c.316+1476A>C (n.316+1476A>C) c.514+1476A>C (n.514+1476A>C) c.*325A>C (n.*325A>C) c.3840A>C (p.Pro1280=) c.3810A>C (p.Pro1270=) c.3936A>C (p.Pro1312=) c.3225A>C (p.Pro1075=) c.3597+937A>C (n.3597+937A>C) c.3547+1476A>C (n.3547+1476A>C) c.3162A>C (p.Pro1054=) c.3129A>C (p.Pro1043=) c.3342A>C (p.Pro1114=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.53234846T= | CA2429770618 | IQSEC2 | c.3999A= (p.Pro1333=) c.1453+937A= c.962+937A= c.316+1476A= (n.316+1476A=) c.514+1476A= (n.514+1476A=) c.*325A= (n.*325A=) c.3840A= (p.Pro1280=) c.3810A= (p.Pro1270=) c.3936A= (p.Pro1312=) c.3225A= (p.Pro1075=) c.3597+937A= (n.3597+937A=) c.3547+1476A= (n.3547+1476A=) c.3162A= (p.Pro1054=) c.3129A= (p.Pro1043=) c.3342A= (p.Pro1114=) | |
| X | g.53234847G>A | CA413140519 | IQSEC2 | c.3998C>T (p.Pro1333Leu) c.1453+936C>T c.962+936C>T c.316+1475C>T (n.316+1475C>T) c.514+1475C>T (n.514+1475C>T) c.*324C>T (n.*324C>T) c.3839C>T (p.Pro1280Leu) c.3809C>T (p.Pro1270Leu) c.3935C>T (p.Pro1312Leu) c.3224C>T (p.Pro1075Leu) c.3597+936C>T (n.3597+936C>T) c.3547+1475C>T (n.3547+1475C>T) c.3161C>T (p.Pro1054Leu) c.3128C>T (p.Pro1043Leu) c.3341C>T (p.Pro1114Leu) | |
| X | g.53234847G>C | CA413140521 | IQSEC2 | c.3998C>G (p.Pro1333Arg) c.1453+936C>G c.962+936C>G c.316+1475C>G (n.316+1475C>G) c.514+1475C>G (n.514+1475C>G) c.*324C>G (n.*324C>G) c.3839C>G (p.Pro1280Arg) c.3809C>G (p.Pro1270Arg) c.3935C>G (p.Pro1312Arg) c.3224C>G (p.Pro1075Arg) c.3597+936C>G (n.3597+936C>G) c.3547+1475C>G (n.3547+1475C>G) c.3161C>G (p.Pro1054Arg) c.3128C>G (p.Pro1043Arg) c.3341C>G (p.Pro1114Arg) | |
| X | g.53234847G>T | CA413140524 | IQSEC2 | c.3998C>A (p.Pro1333Gln) c.1453+936C>A c.962+936C>A c.316+1475C>A (n.316+1475C>A) c.514+1475C>A (n.514+1475C>A) c.*324C>A (n.*324C>A) c.3839C>A (p.Pro1280Gln) c.3809C>A (p.Pro1270Gln) c.3935C>A (p.Pro1312Gln) c.3224C>A (p.Pro1075Gln) c.3597+936C>A (n.3597+936C>A) c.3547+1475C>A (n.3547+1475C>A) c.3161C>A (p.Pro1054Gln) c.3128C>A (p.Pro1043Gln) c.3341C>A (p.Pro1114Gln) | gnomAD v4 |
| X | g.53234848G>A | CA413140527 | IQSEC2 | c.3997C>T (p.Pro1333Ser) c.1453+935C>T c.962+935C>T c.316+1474C>T (n.316+1474C>T) c.514+1474C>T (n.514+1474C>T) c.*323C>T (n.*323C>T) c.3838C>T (p.Pro1280Ser) c.3808C>T (p.Pro1270Ser) c.3934C>T (p.Pro1312Ser) c.3223C>T (p.Pro1075Ser) c.3597+935C>T (n.3597+935C>T) c.3547+1474C>T (n.3547+1474C>T) c.3160C>T (p.Pro1054Ser) c.3127C>T (p.Pro1043Ser) c.3340C>T (p.Pro1114Ser) | COSMIC COSMIC |
| X | g.53234848G>C | CA413140532 | IQSEC2 | c.3997C>G (p.Pro1333Ala) c.1453+935C>G c.962+935C>G c.316+1474C>G (n.316+1474C>G) c.514+1474C>G (n.514+1474C>G) c.*323C>G (n.*323C>G) c.3838C>G (p.Pro1280Ala) c.3808C>G (p.Pro1270Ala) c.3934C>G (p.Pro1312Ala) c.3223C>G (p.Pro1075Ala) c.3597+935C>G (n.3597+935C>G) c.3547+1474C>G (n.3547+1474C>G) c.3160C>G (p.Pro1054Ala) c.3127C>G (p.Pro1043Ala) c.3340C>G (p.Pro1114Ala) | |
| X | g.53234848G>T | CA413140529 | IQSEC2 | c.3997C>A (p.Pro1333Thr) c.1453+935C>A c.962+935C>A c.316+1474C>A (n.316+1474C>A) c.514+1474C>A (n.514+1474C>A) c.*323C>A (n.*323C>A) c.3838C>A (p.Pro1280Thr) c.3808C>A (p.Pro1270Thr) c.3934C>A (p.Pro1312Thr) c.3223C>A (p.Pro1075Thr) c.3597+935C>A (n.3597+935C>A) c.3547+1474C>A (n.3547+1474C>A) c.3160C>A (p.Pro1054Thr) c.3127C>A (p.Pro1043Thr) c.3340C>A (p.Pro1114Thr) | |
| X | g.53234849C>A | CA516673754 | IQSEC2 | c.3996G>T (p.Pro1332=) c.1453+934G>T c.962+934G>T c.316+1473G>T (n.316+1473G>T) c.514+1473G>T (n.514+1473G>T) c.*322G>T (n.*322G>T) c.3837G>T (p.Pro1279=) c.3807G>T (p.Pro1269=) c.3933G>T (p.Pro1311=) c.3222G>T (p.Pro1074=) c.3597+934G>T (n.3597+934G>T) c.3547+1473G>T (n.3547+1473G>T) c.3159G>T (p.Pro1053=) c.3126G>T (p.Pro1042=) c.3339G>T (p.Pro1113=) | dbSNP |
| X | g.53234849C= | CA2429770619 | IQSEC2 | c.3996G= (p.Pro1332=) c.1453+934G= c.962+934G= c.316+1473G= (n.316+1473G=) c.514+1473G= (n.514+1473G=) c.*322G= (n.*322G=) c.3837G= (p.Pro1279=) c.3807G= (p.Pro1269=) c.3933G= (p.Pro1311=) c.3222G= (p.Pro1074=) c.3597+934G= (n.3597+934G=) c.3547+1473G= (n.3547+1473G=) c.3159G= (p.Pro1053=) c.3126G= (p.Pro1042=) c.3339G= (p.Pro1113=) | |
| X | g.53234849C>G | CA516673755 | IQSEC2 | c.3996G>C (p.Pro1332=) c.1453+934G>C c.962+934G>C c.316+1473G>C (n.316+1473G>C) c.514+1473G>C (n.514+1473G>C) c.*322G>C (n.*322G>C) c.3837G>C (p.Pro1279=) c.3807G>C (p.Pro1269=) c.3933G>C (p.Pro1311=) c.3222G>C (p.Pro1074=) c.3597+934G>C (n.3597+934G>C) c.3547+1473G>C (n.3547+1473G>C) c.3159G>C (p.Pro1053=) c.3126G>C (p.Pro1042=) c.3339G>C (p.Pro1113=) | ClinVar gnomAD v3 gnomAD v4 |
| X | g.53234849C>T | CA516673756 | IQSEC2 | c.3996G>A (p.Pro1332=) c.1453+934G>A c.962+934G>A c.316+1473G>A (n.316+1473G>A) c.514+1473G>A (n.514+1473G>A) c.*322G>A (n.*322G>A) c.3837G>A (p.Pro1279=) c.3807G>A (p.Pro1269=) c.3933G>A (p.Pro1311=) c.3222G>A (p.Pro1074=) c.3597+934G>A (n.3597+934G>A) c.3547+1473G>A (n.3547+1473G>A) c.3159G>A (p.Pro1053=) c.3126G>A (p.Pro1042=) c.3339G>A (p.Pro1113=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.53234850G>A | CA413140536 | IQSEC2 | c.3995C>T (p.Pro1332Leu) c.1453+933C>T c.962+933C>T c.316+1472C>T (n.316+1472C>T) c.514+1472C>T (n.514+1472C>T) c.*321C>T (n.*321C>T) c.3836C>T (p.Pro1279Leu) c.3806C>T (p.Pro1269Leu) c.3932C>T (p.Pro1311Leu) c.3221C>T (p.Pro1074Leu) c.3597+933C>T (n.3597+933C>T) c.3547+1472C>T (n.3547+1472C>T) c.3158C>T (p.Pro1053Leu) c.3125C>T (p.Pro1042Leu) c.3338C>T (p.Pro1113Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53234850G>C | CA413140539 | IQSEC2 | c.3995C>G (p.Pro1332Arg) c.1453+933C>G c.962+933C>G c.316+1472C>G (n.316+1472C>G) c.514+1472C>G (n.514+1472C>G) c.*321C>G (n.*321C>G) c.3836C>G (p.Pro1279Arg) c.3806C>G (p.Pro1269Arg) c.3932C>G (p.Pro1311Arg) c.3221C>G (p.Pro1074Arg) c.3597+933C>G (n.3597+933C>G) c.3547+1472C>G (n.3547+1472C>G) c.3158C>G (p.Pro1053Arg) c.3125C>G (p.Pro1042Arg) c.3338C>G (p.Pro1113Arg) | |
| X | g.53234850G= | CA2429770620 | IQSEC2 | c.3995C= (p.Pro1332=) c.1453+933C= c.962+933C= c.316+1472C= (n.316+1472C=) c.514+1472C= (n.514+1472C=) c.*321C= (n.*321C=) c.3836C= (p.Pro1279=) c.3806C= (p.Pro1269=) c.3932C= (p.Pro1311=) c.3221C= (p.Pro1074=) c.3597+933C= (n.3597+933C=) c.3547+1472C= (n.3547+1472C=) c.3158C= (p.Pro1053=) c.3125C= (p.Pro1042=) c.3338C= (p.Pro1113=) | |
| X | g.53234850G>T | CA413140541 | IQSEC2 | c.3995C>A (p.Pro1332Gln) c.1453+933C>A c.962+933C>A c.316+1472C>A (n.316+1472C>A) c.514+1472C>A (n.514+1472C>A) c.*321C>A (n.*321C>A) c.3836C>A (p.Pro1279Gln) c.3806C>A (p.Pro1269Gln) c.3932C>A (p.Pro1311Gln) c.3221C>A (p.Pro1074Gln) c.3597+933C>A (n.3597+933C>A) c.3547+1472C>A (n.3547+1472C>A) c.3158C>A (p.Pro1053Gln) c.3125C>A (p.Pro1042Gln) c.3338C>A (p.Pro1113Gln) | gnomAD v4 |
| X | g.53234851G>A | CA413140544 | IQSEC2 | c.3994C>T (p.Pro1332Ser) c.1453+932C>T c.962+932C>T c.316+1471C>T (n.316+1471C>T) c.514+1471C>T (n.514+1471C>T) c.*320C>T (n.*320C>T) c.3835C>T (p.Pro1279Ser) c.3805C>T (p.Pro1269Ser) c.3931C>T (p.Pro1311Ser) c.3220C>T (p.Pro1074Ser) c.3597+932C>T (n.3597+932C>T) c.3547+1471C>T (n.3547+1471C>T) c.3157C>T (p.Pro1053Ser) c.3124C>T (p.Pro1042Ser) c.3337C>T (p.Pro1113Ser) | |
| X | g.53234851G>C | CA413140547 | IQSEC2 | c.3994C>G (p.Pro1332Ala) c.1453+932C>G c.962+932C>G c.316+1471C>G (n.316+1471C>G) c.514+1471C>G (n.514+1471C>G) c.*320C>G (n.*320C>G) c.3835C>G (p.Pro1279Ala) c.3805C>G (p.Pro1269Ala) c.3931C>G (p.Pro1311Ala) c.3220C>G (p.Pro1074Ala) c.3597+932C>G (n.3597+932C>G) c.3547+1471C>G (n.3547+1471C>G) c.3157C>G (p.Pro1053Ala) c.3124C>G (p.Pro1042Ala) c.3337C>G (p.Pro1113Ala) | |
| X | g.53234851G>T | CA413140550 | IQSEC2 | c.3994C>A (p.Pro1332Thr) c.1453+932C>A c.962+932C>A c.316+1471C>A (n.316+1471C>A) c.514+1471C>A (n.514+1471C>A) c.*320C>A (n.*320C>A) c.3835C>A (p.Pro1279Thr) c.3805C>A (p.Pro1269Thr) c.3931C>A (p.Pro1311Thr) c.3220C>A (p.Pro1074Thr) c.3597+932C>A (n.3597+932C>A) c.3547+1471C>A (n.3547+1471C>A) c.3157C>A (p.Pro1053Thr) c.3124C>A (p.Pro1042Thr) c.3337C>A (p.Pro1113Thr) | gnomAD v4 |
| X | g.53234855_53234859del | CA2693794291 | IQSEC2 | c.3990_3994del (p.Pro1332ThrfsTer?) c.1453+928_1453+932del c.962+928_962+932del c.316+1467_316+1471del (n.316+1467_316+1471del) c.514+1467_514+1471del (n.514+1467_514+1471del) c.*316_*320del (n.*316_*320del) c.3831_3835del (p.Pro1279ThrfsTer?) c.3801_3805del (p.Pro1269ThrfsTer?) c.3927_3931del (p.Pro1311ThrfsTer?) c.3216_3220del (p.Pro1074ThrfsTer?) c.3597+928_3597+932del (n.3597+928_3597+932del) c.3547+1467_3547+1471del (n.3547+1467_3547+1471del) c.3153_3157del (p.Pro1053ThrfsTer?) c.3120_3124del (p.Pro1042ThrfsTer?) c.3333_3337del (p.Pro1113ThrfsTer?) | gnomAD v4 |
| X | g.53234852G>A | CA516673763 | IQSEC2 | c.3993C>T (p.Ala1331=) c.1453+931C>T c.962+931C>T c.316+1470C>T (n.316+1470C>T) c.514+1470C>T (n.514+1470C>T) c.*319C>T (n.*319C>T) c.3834C>T (p.Ala1278=) c.3804C>T (p.Ala1268=) c.3930C>T (p.Ala1310=) c.3219C>T (p.Ala1073=) c.3597+931C>T (n.3597+931C>T) c.3547+1470C>T (n.3547+1470C>T) c.3156C>T (p.Ala1052=) c.3123C>T (p.Ala1041=) c.3336C>T (p.Ala1112=) | |
| X | g.53234852G>C | CA516673764 | IQSEC2 | c.3993C>G (p.Ala1331=) c.1453+931C>G c.962+931C>G c.316+1470C>G (n.316+1470C>G) c.514+1470C>G (n.514+1470C>G) c.*319C>G (n.*319C>G) c.3834C>G (p.Ala1278=) c.3804C>G (p.Ala1268=) c.3930C>G (p.Ala1310=) c.3219C>G (p.Ala1073=) c.3597+931C>G (n.3597+931C>G) c.3547+1470C>G (n.3547+1470C>G) c.3156C>G (p.Ala1052=) c.3123C>G (p.Ala1041=) c.3336C>G (p.Ala1112=) | gnomAD v4 |
| X | g.53234852G>T | CA516673765 | IQSEC2 | c.3993C>A (p.Ala1331=) c.1453+931C>A c.962+931C>A c.316+1470C>A (n.316+1470C>A) c.514+1470C>A (n.514+1470C>A) c.*319C>A (n.*319C>A) c.3834C>A (p.Ala1278=) c.3804C>A (p.Ala1268=) c.3930C>A (p.Ala1310=) c.3219C>A (p.Ala1073=) c.3597+931C>A (n.3597+931C>A) c.3547+1470C>A (n.3547+1470C>A) c.3156C>A (p.Ala1052=) c.3123C>A (p.Ala1041=) c.3336C>A (p.Ala1112=) | gnomAD v4 |
| X | g.53234853G>A | CA413140558 | IQSEC2 | c.3992C>T (p.Ala1331Val) c.1453+930C>T c.962+930C>T c.316+1469C>T (n.316+1469C>T) c.514+1469C>T (n.514+1469C>T) c.*318C>T (n.*318C>T) c.3833C>T (p.Ala1278Val) c.3803C>T (p.Ala1268Val) c.3929C>T (p.Ala1310Val) c.3218C>T (p.Ala1073Val) c.3597+930C>T (n.3597+930C>T) c.3547+1469C>T (n.3547+1469C>T) c.3155C>T (p.Ala1052Val) c.3122C>T (p.Ala1041Val) c.3335C>T (p.Ala1112Val) | gnomAD v4 |
| X | g.53234853G>C | CA413140556 | IQSEC2 | c.3992C>G (p.Ala1331Gly) c.1453+930C>G c.962+930C>G c.316+1469C>G (n.316+1469C>G) c.514+1469C>G (n.514+1469C>G) c.*318C>G (n.*318C>G) c.3833C>G (p.Ala1278Gly) c.3803C>G (p.Ala1268Gly) c.3929C>G (p.Ala1310Gly) c.3218C>G (p.Ala1073Gly) c.3597+930C>G (n.3597+930C>G) c.3547+1469C>G (n.3547+1469C>G) c.3155C>G (p.Ala1052Gly) c.3122C>G (p.Ala1041Gly) c.3335C>G (p.Ala1112Gly) | |
| X | g.53234853G= | CA2429770621 | IQSEC2 | c.3992C= (p.Ala1331=) c.1453+930C= c.962+930C= c.316+1469C= (n.316+1469C=) c.514+1469C= (n.514+1469C=) c.*318C= (n.*318C=) c.3833C= (p.Ala1278=) c.3803C= (p.Ala1268=) c.3929C= (p.Ala1310=) c.3218C= (p.Ala1073=) c.3597+930C= (n.3597+930C=) c.3547+1469C= (n.3547+1469C=) c.3155C= (p.Ala1052=) c.3122C= (p.Ala1041=) c.3335C= (p.Ala1112=) | |
| X | g.53234853G>T | CA413140554 | IQSEC2 | c.3992C>A (p.Ala1331Asp) c.1453+930C>A c.962+930C>A c.316+1469C>A (n.316+1469C>A) c.514+1469C>A (n.514+1469C>A) c.*318C>A (n.*318C>A) c.3833C>A (p.Ala1278Asp) c.3803C>A (p.Ala1268Asp) c.3929C>A (p.Ala1310Asp) c.3218C>A (p.Ala1073Asp) c.3597+930C>A (n.3597+930C>A) c.3547+1469C>A (n.3547+1469C>A) c.3155C>A (p.Ala1052Asp) c.3122C>A (p.Ala1041Asp) c.3335C>A (p.Ala1112Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53234854C>A | CA413140561 | IQSEC2 | c.3991G>T (p.Ala1331Ser) c.1453+929G>T c.962+929G>T c.316+1468G>T (n.316+1468G>T) c.514+1468G>T (n.514+1468G>T) c.*317G>T (n.*317G>T) c.3832G>T (p.Ala1278Ser) c.3802G>T (p.Ala1268Ser) c.3928G>T (p.Ala1310Ser) c.3217G>T (p.Ala1073Ser) c.3597+929G>T (n.3597+929G>T) c.3547+1468G>T (n.3547+1468G>T) c.3154G>T (p.Ala1052Ser) c.3121G>T (p.Ala1041Ser) c.3334G>T (p.Ala1112Ser) | |
| X | g.53234854C= | CA2429770622 | IQSEC2 | c.3991G= (p.Ala1331=) c.1453+929G= c.962+929G= c.316+1468G= (n.316+1468G=) c.514+1468G= (n.514+1468G=) c.*317G= (n.*317G=) c.3832G= (p.Ala1278=) c.3802G= (p.Ala1268=) c.3928G= (p.Ala1310=) c.3217G= (p.Ala1073=) c.3597+929G= (n.3597+929G=) c.3547+1468G= (n.3547+1468G=) c.3154G= (p.Ala1052=) c.3121G= (p.Ala1041=) c.3334G= (p.Ala1112=) | |
| X | g.53234854C>G | CA413140563 | IQSEC2 | c.3991G>C (p.Ala1331Pro) c.1453+929G>C c.962+929G>C c.316+1468G>C (n.316+1468G>C) c.514+1468G>C (n.514+1468G>C) c.*317G>C (n.*317G>C) c.3832G>C (p.Ala1278Pro) c.3802G>C (p.Ala1268Pro) c.3928G>C (p.Ala1310Pro) c.3217G>C (p.Ala1073Pro) c.3597+929G>C (n.3597+929G>C) c.3547+1468G>C (n.3547+1468G>C) c.3154G>C (p.Ala1052Pro) c.3121G>C (p.Ala1041Pro) c.3334G>C (p.Ala1112Pro) | |
| X | g.53234854C>T | CA413140566 | IQSEC2 | c.3991G>A (p.Ala1331Thr) c.1453+929G>A c.962+929G>A c.316+1468G>A (n.316+1468G>A) c.514+1468G>A (n.514+1468G>A) c.*317G>A (n.*317G>A) c.3832G>A (p.Ala1278Thr) c.3802G>A (p.Ala1268Thr) c.3928G>A (p.Ala1310Thr) c.3217G>A (p.Ala1073Thr) c.3597+929G>A (n.3597+929G>A) c.3547+1468G>A (n.3547+1468G>A) c.3154G>A (p.Ala1052Thr) c.3121G>A (p.Ala1041Thr) c.3334G>A (p.Ala1112Thr) | ClinVar dbSNP |
| X | g.53234855A>C | CA516673771 | IQSEC2 | c.3990T>G (p.Pro1330=) c.1453+928T>G c.962+928T>G c.316+1467T>G (n.316+1467T>G) c.514+1467T>G (n.514+1467T>G) c.*316T>G (n.*316T>G) c.3831T>G (p.Pro1277=) c.3801T>G (p.Pro1267=) c.3927T>G (p.Pro1309=) c.3216T>G (p.Pro1072=) c.3597+928T>G (n.3597+928T>G) c.3547+1467T>G (n.3547+1467T>G) c.3153T>G (p.Pro1051=) c.3120T>G (p.Pro1040=) c.3333T>G (p.Pro1111=) | |
| X | g.53234855A>G | CA516673773 | IQSEC2 | c.3990T>C (p.Pro1330=) c.1453+928T>C c.962+928T>C c.316+1467T>C (n.316+1467T>C) c.514+1467T>C (n.514+1467T>C) c.*316T>C (n.*316T>C) c.3831T>C (p.Pro1277=) c.3801T>C (p.Pro1267=) c.3927T>C (p.Pro1309=) c.3216T>C (p.Pro1072=) c.3597+928T>C (n.3597+928T>C) c.3547+1467T>C (n.3547+1467T>C) c.3153T>C (p.Pro1051=) c.3120T>C (p.Pro1040=) c.3333T>C (p.Pro1111=) | |
| X | g.53234855A>T | CA516673774 | IQSEC2 | c.3990T>A (p.Pro1330=) c.1453+928T>A c.962+928T>A c.316+1467T>A (n.316+1467T>A) c.514+1467T>A (n.514+1467T>A) c.*316T>A (n.*316T>A) c.3831T>A (p.Pro1277=) c.3801T>A (p.Pro1267=) c.3927T>A (p.Pro1309=) c.3216T>A (p.Pro1072=) c.3597+928T>A (n.3597+928T>A) c.3547+1467T>A (n.3547+1467T>A) c.3153T>A (p.Pro1051=) c.3120T>A (p.Pro1040=) c.3333T>A (p.Pro1111=) | |
| X | g.53234856G>A | CA413140569 | IQSEC2 | c.3989C>T (p.Pro1330Leu) c.1453+927C>T c.962+927C>T c.316+1466C>T (n.316+1466C>T) c.514+1466C>T (n.514+1466C>T) c.*315C>T (n.*315C>T) c.3830C>T (p.Pro1277Leu) c.3800C>T (p.Pro1267Leu) c.3926C>T (p.Pro1309Leu) c.3215C>T (p.Pro1072Leu) c.3597+927C>T (n.3597+927C>T) c.3547+1466C>T (n.3547+1466C>T) c.3152C>T (p.Pro1051Leu) c.3119C>T (p.Pro1040Leu) c.3332C>T (p.Pro1111Leu) | |
| X | g.53234856G>C | CA413140572 | IQSEC2 | c.3989C>G (p.Pro1330Arg) c.1453+927C>G c.962+927C>G c.316+1466C>G (n.316+1466C>G) c.514+1466C>G (n.514+1466C>G) c.*315C>G (n.*315C>G) c.3830C>G (p.Pro1277Arg) c.3800C>G (p.Pro1267Arg) c.3926C>G (p.Pro1309Arg) c.3215C>G (p.Pro1072Arg) c.3597+927C>G (n.3597+927C>G) c.3547+1466C>G (n.3547+1466C>G) c.3152C>G (p.Pro1051Arg) c.3119C>G (p.Pro1040Arg) c.3332C>G (p.Pro1111Arg) | |
| X | g.53234856G>T | CA413140577 | IQSEC2 | c.3989C>A (p.Pro1330His) c.1453+927C>A c.962+927C>A c.316+1466C>A (n.316+1466C>A) c.514+1466C>A (n.514+1466C>A) c.*315C>A (n.*315C>A) c.3830C>A (p.Pro1277His) c.3800C>A (p.Pro1267His) c.3926C>A (p.Pro1309His) c.3215C>A (p.Pro1072His) c.3597+927C>A (n.3597+927C>A) c.3547+1466C>A (n.3547+1466C>A) c.3152C>A (p.Pro1051His) c.3119C>A (p.Pro1040His) c.3332C>A (p.Pro1111His) | gnomAD v4 |
| X | g.53234857G>A | CA413140582 | IQSEC2 | c.3988C>T (p.Pro1330Ser) c.1453+926C>T c.962+926C>T c.316+1465C>T (n.316+1465C>T) c.514+1465C>T (n.514+1465C>T) c.*314C>T (n.*314C>T) c.3829C>T (p.Pro1277Ser) c.3799C>T (p.Pro1267Ser) c.3925C>T (p.Pro1309Ser) c.3214C>T (p.Pro1072Ser) c.3597+926C>T (n.3597+926C>T) c.3547+1465C>T (n.3547+1465C>T) c.3151C>T (p.Pro1051Ser) c.3118C>T (p.Pro1040Ser) c.3331C>T (p.Pro1111Ser) | gnomAD v4 |
| X | g.53234857G>C | CA413140587 | IQSEC2 | c.3988C>G (p.Pro1330Ala) c.1453+926C>G c.962+926C>G c.316+1465C>G (n.316+1465C>G) c.514+1465C>G (n.514+1465C>G) c.*314C>G (n.*314C>G) c.3829C>G (p.Pro1277Ala) c.3799C>G (p.Pro1267Ala) c.3925C>G (p.Pro1309Ala) c.3214C>G (p.Pro1072Ala) c.3597+926C>G (n.3597+926C>G) c.3547+1465C>G (n.3547+1465C>G) c.3151C>G (p.Pro1051Ala) c.3118C>G (p.Pro1040Ala) c.3331C>G (p.Pro1111Ala) | |
| X | g.53234857G>T | CA413140584 | IQSEC2 | c.3988C>A (p.Pro1330Thr) c.1453+926C>A c.962+926C>A c.316+1465C>A (n.316+1465C>A) c.514+1465C>A (n.514+1465C>A) c.*314C>A (n.*314C>A) c.3829C>A (p.Pro1277Thr) c.3799C>A (p.Pro1267Thr) c.3925C>A (p.Pro1309Thr) c.3214C>A (p.Pro1072Thr) c.3597+926C>A (n.3597+926C>A) c.3547+1465C>A (n.3547+1465C>A) c.3151C>A (p.Pro1051Thr) c.3118C>A (p.Pro1040Thr) c.3331C>A (p.Pro1111Thr) | gnomAD v4 |
| X | g.53234858G>A | CA516673779 | IQSEC2 | c.3987C>T (p.Gly1329=) c.1453+925C>T c.962+925C>T c.316+1464C>T (n.316+1464C>T) c.514+1464C>T (n.514+1464C>T) c.*313C>T (n.*313C>T) c.3828C>T (p.Gly1276=) c.3798C>T (p.Gly1266=) c.3924C>T (p.Gly1308=) c.3213C>T (p.Gly1071=) c.3597+925C>T (n.3597+925C>T) c.3547+1464C>T (n.3547+1464C>T) c.3150C>T (p.Gly1050=) c.3117C>T (p.Gly1039=) c.3330C>T (p.Gly1110=) | gnomAD v4 |
| X | g.53234858G>C | CA516673780 | IQSEC2 | c.3987C>G (p.Gly1329=) c.1453+925C>G c.962+925C>G c.316+1464C>G (n.316+1464C>G) c.514+1464C>G (n.514+1464C>G) c.*313C>G (n.*313C>G) c.3828C>G (p.Gly1276=) c.3798C>G (p.Gly1266=) c.3924C>G (p.Gly1308=) c.3213C>G (p.Gly1071=) c.3597+925C>G (n.3597+925C>G) c.3547+1464C>G (n.3547+1464C>G) c.3150C>G (p.Gly1050=) c.3117C>G (p.Gly1039=) c.3330C>G (p.Gly1110=) | |
| X | g.53234858G>T | CA516673781 | IQSEC2 | c.3987C>A (p.Gly1329=) c.1453+925C>A c.962+925C>A c.316+1464C>A (n.316+1464C>A) c.514+1464C>A (n.514+1464C>A) c.*313C>A (n.*313C>A) c.3828C>A (p.Gly1276=) c.3798C>A (p.Gly1266=) c.3924C>A (p.Gly1308=) c.3213C>A (p.Gly1071=) c.3597+925C>A (n.3597+925C>A) c.3547+1464C>A (n.3547+1464C>A) c.3150C>A (p.Gly1050=) c.3117C>A (p.Gly1039=) c.3330C>A (p.Gly1110=) | |
| X | g.53234859C>A | CA413140589 | IQSEC2 | c.3986G>T (p.Gly1329Val) c.1453+924G>T c.962+924G>T c.316+1463G>T (n.316+1463G>T) c.514+1463G>T (n.514+1463G>T) c.*312G>T (n.*312G>T) c.3827G>T (p.Gly1276Val) c.3797G>T (p.Gly1266Val) c.3923G>T (p.Gly1308Val) c.3212G>T (p.Gly1071Val) c.3597+924G>T (n.3597+924G>T) c.3547+1463G>T (n.3547+1463G>T) c.3149G>T (p.Gly1050Val) c.3116G>T (p.Gly1039Val) c.3329G>T (p.Gly1110Val) | |
| X | g.53234859C>G | CA413140591 | IQSEC2 | c.3986G>C (p.Gly1329Ala) c.1453+924G>C c.962+924G>C c.316+1463G>C (n.316+1463G>C) c.514+1463G>C (n.514+1463G>C) c.*312G>C (n.*312G>C) c.3827G>C (p.Gly1276Ala) c.3797G>C (p.Gly1266Ala) c.3923G>C (p.Gly1308Ala) c.3212G>C (p.Gly1071Ala) c.3597+924G>C (n.3597+924G>C) c.3547+1463G>C (n.3547+1463G>C) c.3149G>C (p.Gly1050Ala) c.3116G>C (p.Gly1039Ala) c.3329G>C (p.Gly1110Ala) | |
| X | g.53234859C>T | CA413140592 | IQSEC2 | c.3986G>A (p.Gly1329Asp) c.1453+924G>A c.962+924G>A c.316+1463G>A (n.316+1463G>A) c.514+1463G>A (n.514+1463G>A) c.*312G>A (n.*312G>A) c.3827G>A (p.Gly1276Asp) c.3797G>A (p.Gly1266Asp) c.3923G>A (p.Gly1308Asp) c.3212G>A (p.Gly1071Asp) c.3597+924G>A (n.3597+924G>A) c.3547+1463G>A (n.3547+1463G>A) c.3149G>A (p.Gly1050Asp) c.3116G>A (p.Gly1039Asp) c.3329G>A (p.Gly1110Asp) | |
| X | g.53234861del | CA2579614639 | IQSEC2 | c.3986del (p.Gly1329AlafsTer?) c.1453+924del c.962+924del c.316+1463del (n.316+1463del) c.514+1463del (n.514+1463del) c.*312del (n.*312del) c.3827del (p.Gly1276AlafsTer?) c.3797del (p.Gly1266AlafsTer?) c.3923del (p.Gly1308AlafsTer?) c.3212del (p.Gly1071AlafsTer?) c.3597+924del (n.3597+924del) c.3547+1463del (n.3547+1463del) c.3149del (p.Gly1050AlafsTer?) c.3116del (p.Gly1039AlafsTer?) c.3329del (p.Gly1110AlafsTer?) | |
| X | g.53234860C>A | CA413140595 | IQSEC2 | c.3985G>T (p.Gly1329Cys) c.1453+923G>T c.962+923G>T c.316+1462G>T (n.316+1462G>T) c.514+1462G>T (n.514+1462G>T) c.*311G>T (n.*311G>T) c.3826G>T (p.Gly1276Cys) c.3796G>T (p.Gly1266Cys) c.3922G>T (p.Gly1308Cys) c.3211G>T (p.Gly1071Cys) c.3597+923G>T (n.3597+923G>T) c.3547+1462G>T (n.3547+1462G>T) c.3148G>T (p.Gly1050Cys) c.3115G>T (p.Gly1039Cys) c.3328G>T (p.Gly1110Cys) | gnomAD v4 |
| X | g.53234860C>G | CA413140598 | IQSEC2 | c.3985G>C (p.Gly1329Arg) c.1453+923G>C c.962+923G>C c.316+1462G>C (n.316+1462G>C) c.514+1462G>C (n.514+1462G>C) c.*311G>C (n.*311G>C) c.3826G>C (p.Gly1276Arg) c.3796G>C (p.Gly1266Arg) c.3922G>C (p.Gly1308Arg) c.3211G>C (p.Gly1071Arg) c.3597+923G>C (n.3597+923G>C) c.3547+1462G>C (n.3547+1462G>C) c.3148G>C (p.Gly1050Arg) c.3115G>C (p.Gly1039Arg) c.3328G>C (p.Gly1110Arg) | |
| X | g.53234860C>T | CA413140600 | IQSEC2 | c.3985G>A (p.Gly1329Ser) c.1453+923G>A c.962+923G>A c.316+1462G>A (n.316+1462G>A) c.514+1462G>A (n.514+1462G>A) c.*311G>A (n.*311G>A) c.3826G>A (p.Gly1276Ser) c.3796G>A (p.Gly1266Ser) c.3922G>A (p.Gly1308Ser) c.3211G>A (p.Gly1071Ser) c.3597+923G>A (n.3597+923G>A) c.3547+1462G>A (n.3547+1462G>A) c.3148G>A (p.Gly1050Ser) c.3115G>A (p.Gly1039Ser) c.3328G>A (p.Gly1110Ser) | |
| X | g.53234861C>A | CA516673786 | IQSEC2 | c.3984G>T (p.Pro1328=) c.1453+922G>T c.962+922G>T c.316+1461G>T (n.316+1461G>T) c.514+1461G>T (n.514+1461G>T) c.*310G>T (n.*310G>T) c.3825G>T (p.Pro1275=) c.3795G>T (p.Pro1265=) c.3921G>T (p.Pro1307=) c.3210G>T (p.Pro1070=) c.3597+922G>T (n.3597+922G>T) c.3547+1461G>T (n.3547+1461G>T) c.3147G>T (p.Pro1049=) c.3114G>T (p.Pro1038=) c.3327G>T (p.Pro1109=) | |
| X | g.53234861C= | CA2429770623 | IQSEC2 | c.3984G= (p.Pro1328=) c.1453+922G= c.962+922G= c.316+1461G= (n.316+1461G=) c.514+1461G= (n.514+1461G=) c.*310G= (n.*310G=) c.3825G= (p.Pro1275=) c.3795G= (p.Pro1265=) c.3921G= (p.Pro1307=) c.3210G= (p.Pro1070=) c.3597+922G= (n.3597+922G=) c.3547+1461G= (n.3547+1461G=) c.3147G= (p.Pro1049=) c.3114G= (p.Pro1038=) c.3327G= (p.Pro1109=) | |
| X | g.53234861C>G | CA516673788 | IQSEC2 | c.3984G>C (p.Pro1328=) c.1453+922G>C c.962+922G>C c.316+1461G>C (n.316+1461G>C) c.514+1461G>C (n.514+1461G>C) c.*310G>C (n.*310G>C) c.3825G>C (p.Pro1275=) c.3795G>C (p.Pro1265=) c.3921G>C (p.Pro1307=) c.3210G>C (p.Pro1070=) c.3597+922G>C (n.3597+922G>C) c.3547+1461G>C (n.3547+1461G>C) c.3147G>C (p.Pro1049=) c.3114G>C (p.Pro1038=) c.3327G>C (p.Pro1109=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.53234861C>T | CA16608511 | IQSEC2 | c.3984G>A (p.Pro1328=) c.1453+922G>A c.962+922G>A c.316+1461G>A (n.316+1461G>A) c.514+1461G>A (n.514+1461G>A) c.*310G>A (n.*310G>A) c.3825G>A (p.Pro1275=) c.3795G>A (p.Pro1265=) c.3921G>A (p.Pro1307=) c.3210G>A (p.Pro1070=) c.3597+922G>A (n.3597+922G>A) c.3547+1461G>A (n.3547+1461G>A) c.3147G>A (p.Pro1049=) c.3114G>A (p.Pro1038=) c.3327G>A (p.Pro1109=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53234862G>A | CA413140604 | IQSEC2 | c.3983C>T (p.Pro1328Leu) c.1453+921C>T c.962+921C>T c.316+1460C>T (n.316+1460C>T) c.514+1460C>T (n.514+1460C>T) c.*309C>T (n.*309C>T) c.3824C>T (p.Pro1275Leu) c.3794C>T (p.Pro1265Leu) c.3920C>T (p.Pro1307Leu) c.3209C>T (p.Pro1070Leu) c.3597+921C>T (n.3597+921C>T) c.3547+1460C>T (n.3547+1460C>T) c.3146C>T (p.Pro1049Leu) c.3113C>T (p.Pro1038Leu) c.3326C>T (p.Pro1109Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53234862G>C | CA413140606 | IQSEC2 | c.3983C>G (p.Pro1328Arg) c.1453+921C>G c.962+921C>G c.316+1460C>G (n.316+1460C>G) c.514+1460C>G (n.514+1460C>G) c.*309C>G (n.*309C>G) c.3824C>G (p.Pro1275Arg) c.3794C>G (p.Pro1265Arg) c.3920C>G (p.Pro1307Arg) c.3209C>G (p.Pro1070Arg) c.3597+921C>G (n.3597+921C>G) c.3547+1460C>G (n.3547+1460C>G) c.3146C>G (p.Pro1049Arg) c.3113C>G (p.Pro1038Arg) c.3326C>G (p.Pro1109Arg) | |
| X | g.53234862G= | CA2429770624 | IQSEC2 | c.3983C= (p.Pro1328=) c.1453+921C= c.962+921C= c.316+1460C= (n.316+1460C=) c.514+1460C= (n.514+1460C=) c.*309C= (n.*309C=) c.3824C= (p.Pro1275=) c.3794C= (p.Pro1265=) c.3920C= (p.Pro1307=) c.3209C= (p.Pro1070=) c.3597+921C= (n.3597+921C=) c.3547+1460C= (n.3547+1460C=) c.3146C= (p.Pro1049=) c.3113C= (p.Pro1038=) c.3326C= (p.Pro1109=) | |
| X | g.53234862G>T | CA413140608 | IQSEC2 | c.3983C>A (p.Pro1328Gln) c.1453+921C>A c.962+921C>A c.316+1460C>A (n.316+1460C>A) c.514+1460C>A (n.514+1460C>A) c.*309C>A (n.*309C>A) c.3824C>A (p.Pro1275Gln) c.3794C>A (p.Pro1265Gln) c.3920C>A (p.Pro1307Gln) c.3209C>A (p.Pro1070Gln) c.3597+921C>A (n.3597+921C>A) c.3547+1460C>A (n.3547+1460C>A) c.3146C>A (p.Pro1049Gln) c.3113C>A (p.Pro1038Gln) c.3326C>A (p.Pro1109Gln) | |
| X | g.53234863G>A | CA413140619 | IQSEC2 | c.3982C>T (p.Pro1328Ser) c.1453+920C>T c.962+920C>T c.316+1459C>T (n.316+1459C>T) c.514+1459C>T (n.514+1459C>T) c.*308C>T (n.*308C>T) c.3823C>T (p.Pro1275Ser) c.3793C>T (p.Pro1265Ser) c.3919C>T (p.Pro1307Ser) c.3208C>T (p.Pro1070Ser) c.3597+920C>T (n.3597+920C>T) c.3547+1459C>T (n.3547+1459C>T) c.3145C>T (p.Pro1049Ser) c.3112C>T (p.Pro1038Ser) c.3325C>T (p.Pro1109Ser) | gnomAD v4 |
| X | g.53234863G>C | CA413140621 | IQSEC2 | c.3982C>G (p.Pro1328Ala) c.1453+920C>G c.962+920C>G c.316+1459C>G (n.316+1459C>G) c.514+1459C>G (n.514+1459C>G) c.*308C>G (n.*308C>G) c.3823C>G (p.Pro1275Ala) c.3793C>G (p.Pro1265Ala) c.3919C>G (p.Pro1307Ala) c.3208C>G (p.Pro1070Ala) c.3597+920C>G (n.3597+920C>G) c.3547+1459C>G (n.3547+1459C>G) c.3145C>G (p.Pro1049Ala) c.3112C>G (p.Pro1038Ala) c.3325C>G (p.Pro1109Ala) | |
| X | g.53234863G>T | CA413140624 | IQSEC2 | c.3982C>A (p.Pro1328Thr) c.1453+920C>A c.962+920C>A c.316+1459C>A (n.316+1459C>A) c.514+1459C>A (n.514+1459C>A) c.*308C>A (n.*308C>A) c.3823C>A (p.Pro1275Thr) c.3793C>A (p.Pro1265Thr) c.3919C>A (p.Pro1307Thr) c.3208C>A (p.Pro1070Thr) c.3597+920C>A (n.3597+920C>A) c.3547+1459C>A (n.3547+1459C>A) c.3145C>A (p.Pro1049Thr) c.3112C>A (p.Pro1038Thr) c.3325C>A (p.Pro1109Thr) | |
| X | g.53234864T>A | CA516673798 | IQSEC2 | c.3981A>T (p.Gly1327=) c.1453+919A>T c.962+919A>T c.316+1458A>T (n.316+1458A>T) c.514+1458A>T (n.514+1458A>T) c.*307A>T (n.*307A>T) c.3822A>T (p.Gly1274=) c.3792A>T (p.Gly1264=) c.3918A>T (p.Gly1306=) c.3207A>T (p.Gly1069=) c.3597+919A>T (n.3597+919A>T) c.3547+1458A>T (n.3547+1458A>T) c.3144A>T (p.Gly1048=) c.3111A>T (p.Gly1037=) c.3324A>T (p.Gly1108=) | |
| X | g.53234864T>C | CA516673793 | IQSEC2 | c.3981A>G (p.Gly1327=) c.1453+919A>G c.962+919A>G c.316+1458A>G (n.316+1458A>G) c.514+1458A>G (n.514+1458A>G) c.*307A>G (n.*307A>G) c.3822A>G (p.Gly1274=) c.3792A>G (p.Gly1264=) c.3918A>G (p.Gly1306=) c.3207A>G (p.Gly1069=) c.3597+919A>G (n.3597+919A>G) c.3547+1458A>G (n.3547+1458A>G) c.3144A>G (p.Gly1048=) c.3111A>G (p.Gly1037=) c.3324A>G (p.Gly1108=) | |
| X | g.53234864T>G | CA516673796 | IQSEC2 | c.3981A>C (p.Gly1327=) c.1453+919A>C c.962+919A>C c.316+1458A>C (n.316+1458A>C) c.514+1458A>C (n.514+1458A>C) c.*307A>C (n.*307A>C) c.3822A>C (p.Gly1274=) c.3792A>C (p.Gly1264=) c.3918A>C (p.Gly1306=) c.3207A>C (p.Gly1069=) c.3597+919A>C (n.3597+919A>C) c.3547+1458A>C (n.3547+1458A>C) c.3144A>C (p.Gly1048=) c.3111A>C (p.Gly1037=) c.3324A>C (p.Gly1108=) | |
| X | g.53234865C>A | CA413140625 | IQSEC2 | c.3980G>T (p.Gly1327Val) c.1453+918G>T c.962+918G>T c.316+1457G>T (n.316+1457G>T) c.514+1457G>T (n.514+1457G>T) c.*306G>T (n.*306G>T) c.3821G>T (p.Gly1274Val) c.3791G>T (p.Gly1264Val) c.3917G>T (p.Gly1306Val) c.3206G>T (p.Gly1069Val) c.3597+918G>T (n.3597+918G>T) c.3547+1457G>T (n.3547+1457G>T) c.3143G>T (p.Gly1048Val) c.3110G>T (p.Gly1037Val) c.3323G>T (p.Gly1108Val) | gnomAD v4 |
| X | g.53234865C>G | CA413140631 | IQSEC2 | c.3980G>C (p.Gly1327Ala) c.1453+918G>C c.962+918G>C c.316+1457G>C (n.316+1457G>C) c.514+1457G>C (n.514+1457G>C) c.*306G>C (n.*306G>C) c.3821G>C (p.Gly1274Ala) c.3791G>C (p.Gly1264Ala) c.3917G>C (p.Gly1306Ala) c.3206G>C (p.Gly1069Ala) c.3597+918G>C (n.3597+918G>C) c.3547+1457G>C (n.3547+1457G>C) c.3143G>C (p.Gly1048Ala) c.3110G>C (p.Gly1037Ala) c.3323G>C (p.Gly1108Ala) | |
| X | g.53234865C>T | CA413140628 | IQSEC2 | c.3980G>A (p.Gly1327Glu) c.1453+918G>A c.962+918G>A c.316+1457G>A (n.316+1457G>A) c.514+1457G>A (n.514+1457G>A) c.*306G>A (n.*306G>A) c.3821G>A (p.Gly1274Glu) c.3791G>A (p.Gly1264Glu) c.3917G>A (p.Gly1306Glu) c.3206G>A (p.Gly1069Glu) c.3597+918G>A (n.3597+918G>A) c.3547+1457G>A (n.3547+1457G>A) c.3143G>A (p.Gly1048Glu) c.3110G>A (p.Gly1037Glu) c.3323G>A (p.Gly1108Glu) | |
| X | g.53234866C>A | CA413140634 | IQSEC2 | c.3979G>T (p.Gly1327Ter) c.1453+917G>T c.962+917G>T c.316+1456G>T (n.316+1456G>T) c.514+1456G>T (n.514+1456G>T) c.*305G>T (n.*305G>T) c.3820G>T (p.Gly1274Ter) c.3790G>T (p.Gly1264Ter) c.3916G>T (p.Gly1306Ter) c.3205G>T (p.Gly1069Ter) c.3597+917G>T (n.3597+917G>T) c.3547+1456G>T (n.3547+1456G>T) c.3142G>T (p.Gly1048Ter) c.3109G>T (p.Gly1037Ter) c.3322G>T (p.Gly1108Ter) | |
| X | g.53234866C>G | CA413140636 | IQSEC2 | c.3979G>C (p.Gly1327Arg) c.1453+917G>C c.962+917G>C c.316+1456G>C (n.316+1456G>C) c.514+1456G>C (n.514+1456G>C) c.*305G>C (n.*305G>C) c.3820G>C (p.Gly1274Arg) c.3790G>C (p.Gly1264Arg) c.3916G>C (p.Gly1306Arg) c.3205G>C (p.Gly1069Arg) c.3597+917G>C (n.3597+917G>C) c.3547+1456G>C (n.3547+1456G>C) c.3142G>C (p.Gly1048Arg) c.3109G>C (p.Gly1037Arg) c.3322G>C (p.Gly1108Arg) | |
| X | g.53234866C>T | CA413140639 | IQSEC2 | c.3979G>A (p.Gly1327Arg) c.1453+917G>A c.962+917G>A c.316+1456G>A (n.316+1456G>A) c.514+1456G>A (n.514+1456G>A) c.*305G>A (n.*305G>A) c.3820G>A (p.Gly1274Arg) c.3790G>A (p.Gly1264Arg) c.3916G>A (p.Gly1306Arg) c.3205G>A (p.Gly1069Arg) c.3597+917G>A (n.3597+917G>A) c.3547+1456G>A (n.3547+1456G>A) c.3142G>A (p.Gly1048Arg) c.3109G>A (p.Gly1037Arg) c.3322G>A (p.Gly1108Arg) | gnomAD v4 |
| X | g.53234867T>A | CA413140642 | IQSEC2 | c.3978A>T (p.Gln1326His) c.1453+916A>T c.962+916A>T c.316+1455A>T (n.316+1455A>T) c.514+1455A>T (n.514+1455A>T) c.*304A>T (n.*304A>T) c.3819A>T (p.Gln1273His) c.3789A>T (p.Gln1263His) c.3915A>T (p.Gln1305His) c.3204A>T (p.Gln1068His) c.3597+916A>T (n.3597+916A>T) c.3547+1455A>T (n.3547+1455A>T) c.3141A>T (p.Gln1047His) c.3108A>T (p.Gln1036His) c.3321A>T (p.Gln1107His) | |
| X | g.53234867T>C | CA516673800 | IQSEC2 | c.3978A>G (p.Gln1326=) c.1453+916A>G c.962+916A>G c.316+1455A>G (n.316+1455A>G) c.514+1455A>G (n.514+1455A>G) c.*304A>G (n.*304A>G) c.3819A>G (p.Gln1273=) c.3789A>G (p.Gln1263=) c.3915A>G (p.Gln1305=) c.3204A>G (p.Gln1068=) c.3597+916A>G (n.3597+916A>G) c.3547+1455A>G (n.3547+1455A>G) c.3141A>G (p.Gln1047=) c.3108A>G (p.Gln1036=) c.3321A>G (p.Gln1107=) | |
| X | g.53234867T>G | CA413140645 | IQSEC2 | c.3978A>C (p.Gln1326His) c.1453+916A>C c.962+916A>C c.316+1455A>C (n.316+1455A>C) c.514+1455A>C (n.514+1455A>C) c.*304A>C (n.*304A>C) c.3819A>C (p.Gln1273His) c.3789A>C (p.Gln1263His) c.3915A>C (p.Gln1305His) c.3204A>C (p.Gln1068His) c.3597+916A>C (n.3597+916A>C) c.3547+1455A>C (n.3547+1455A>C) c.3141A>C (p.Gln1047His) c.3108A>C (p.Gln1036His) c.3321A>C (p.Gln1107His) | |
| X | g.53234868T>A | CA413140647 | IQSEC2 | c.3977A>T (p.Gln1326Leu) c.1453+915A>T c.962+915A>T c.316+1454A>T (n.316+1454A>T) c.514+1454A>T (n.514+1454A>T) c.*303A>T (n.*303A>T) c.3818A>T (p.Gln1273Leu) c.3788A>T (p.Gln1263Leu) c.3914A>T (p.Gln1305Leu) c.3203A>T (p.Gln1068Leu) c.3597+915A>T (n.3597+915A>T) c.3547+1454A>T (n.3547+1454A>T) c.3140A>T (p.Gln1047Leu) c.3107A>T (p.Gln1036Leu) c.3320A>T (p.Gln1107Leu) | |
| X | g.53234868T>C | CA413140649 | IQSEC2 | c.3977A>G (p.Gln1326Arg) c.1453+915A>G c.962+915A>G c.316+1454A>G (n.316+1454A>G) c.514+1454A>G (n.514+1454A>G) c.*303A>G (n.*303A>G) c.3818A>G (p.Gln1273Arg) c.3788A>G (p.Gln1263Arg) c.3914A>G (p.Gln1305Arg) c.3203A>G (p.Gln1068Arg) c.3597+915A>G (n.3597+915A>G) c.3547+1454A>G (n.3547+1454A>G) c.3140A>G (p.Gln1047Arg) c.3107A>G (p.Gln1036Arg) c.3320A>G (p.Gln1107Arg) | |
| X | g.53234868T>G | CA413140652 | IQSEC2 | c.3977A>C (p.Gln1326Pro) c.1453+915A>C c.962+915A>C c.316+1454A>C (n.316+1454A>C) c.514+1454A>C (n.514+1454A>C) c.*303A>C (n.*303A>C) c.3818A>C (p.Gln1273Pro) c.3788A>C (p.Gln1263Pro) c.3914A>C (p.Gln1305Pro) c.3203A>C (p.Gln1068Pro) c.3597+915A>C (n.3597+915A>C) c.3547+1454A>C (n.3547+1454A>C) c.3140A>C (p.Gln1047Pro) c.3107A>C (p.Gln1036Pro) c.3320A>C (p.Gln1107Pro) | |
| X | g.53234869G>A | CA413140655 | IQSEC2 | c.3976C>T (p.Gln1326Ter) c.1453+914C>T c.962+914C>T c.316+1453C>T (n.316+1453C>T) c.514+1453C>T (n.514+1453C>T) c.*302C>T (n.*302C>T) c.3817C>T (p.Gln1273Ter) c.3787C>T (p.Gln1263Ter) c.3913C>T (p.Gln1305Ter) c.3202C>T (p.Gln1068Ter) c.3597+914C>T (n.3597+914C>T) c.3547+1453C>T (n.3547+1453C>T) c.3139C>T (p.Gln1047Ter) c.3106C>T (p.Gln1036Ter) c.3319C>T (p.Gln1107Ter) | ClinVar dbSNP |
| X | g.53234869G>C | CA413140656 | IQSEC2 | c.3976C>G (p.Gln1326Glu) c.1453+914C>G c.962+914C>G c.316+1453C>G (n.316+1453C>G) c.514+1453C>G (n.514+1453C>G) c.*302C>G (n.*302C>G) c.3817C>G (p.Gln1273Glu) c.3787C>G (p.Gln1263Glu) c.3913C>G (p.Gln1305Glu) c.3202C>G (p.Gln1068Glu) c.3597+914C>G (n.3597+914C>G) c.3547+1453C>G (n.3547+1453C>G) c.3139C>G (p.Gln1047Glu) c.3106C>G (p.Gln1036Glu) c.3319C>G (p.Gln1107Glu) | |
| X | g.53234869G= | CA2429770625 | IQSEC2 | c.3976C= (p.Gln1326=) c.1453+914C= c.962+914C= c.316+1453C= (n.316+1453C=) c.514+1453C= (n.514+1453C=) c.*302C= (n.*302C=) c.3817C= (p.Gln1273=) c.3787C= (p.Gln1263=) c.3913C= (p.Gln1305=) c.3202C= (p.Gln1068=) c.3597+914C= (n.3597+914C=) c.3547+1453C= (n.3547+1453C=) c.3139C= (p.Gln1047=) c.3106C= (p.Gln1036=) c.3319C= (p.Gln1107=) | |
| X | g.53234869G>T | CA413140659 | IQSEC2 | c.3976C>A (p.Gln1326Lys) c.1453+914C>A c.962+914C>A c.316+1453C>A (n.316+1453C>A) c.514+1453C>A (n.514+1453C>A) c.*302C>A (n.*302C>A) c.3817C>A (p.Gln1273Lys) c.3787C>A (p.Gln1263Lys) c.3913C>A (p.Gln1305Lys) c.3202C>A (p.Gln1068Lys) c.3597+914C>A (n.3597+914C>A) c.3547+1453C>A (n.3547+1453C>A) c.3139C>A (p.Gln1047Lys) c.3106C>A (p.Gln1036Lys) c.3319C>A (p.Gln1107Lys) | gnomAD v4 |
| X | g.53234870G>A | CA516673806 | IQSEC2 | c.3975C>T (p.Cys1325=) c.1453+913C>T c.962+913C>T c.316+1452C>T (n.316+1452C>T) c.514+1452C>T (n.514+1452C>T) c.*301C>T (n.*301C>T) c.3816C>T (p.Cys1272=) c.3786C>T (p.Cys1262=) c.3912C>T (p.Cys1304=) c.3201C>T (p.Cys1067=) c.3597+913C>T (n.3597+913C>T) c.3547+1452C>T (n.3547+1452C>T) c.3138C>T (p.Cys1046=) c.3105C>T (p.Cys1035=) c.3318C>T (p.Cys1106=) | gnomAD v4 |
| X | g.53234870G>C | CA413140663 | IQSEC2 | c.3975C>G (p.Cys1325Trp) c.1453+913C>G c.962+913C>G c.316+1452C>G (n.316+1452C>G) c.514+1452C>G (n.514+1452C>G) c.*301C>G (n.*301C>G) c.3816C>G (p.Cys1272Trp) c.3786C>G (p.Cys1262Trp) c.3912C>G (p.Cys1304Trp) c.3201C>G (p.Cys1067Trp) c.3597+913C>G (n.3597+913C>G) c.3547+1452C>G (n.3547+1452C>G) c.3138C>G (p.Cys1046Trp) c.3105C>G (p.Cys1035Trp) c.3318C>G (p.Cys1106Trp) | |
| X | g.53234870G>T | CA413140665 | IQSEC2 | c.3975C>A (p.Cys1325Ter) c.1453+913C>A c.962+913C>A c.316+1452C>A (n.316+1452C>A) c.514+1452C>A (n.514+1452C>A) c.*301C>A (n.*301C>A) c.3816C>A (p.Cys1272Ter) c.3786C>A (p.Cys1262Ter) c.3912C>A (p.Cys1304Ter) c.3201C>A (p.Cys1067Ter) c.3597+913C>A (n.3597+913C>A) c.3547+1452C>A (n.3547+1452C>A) c.3138C>A (p.Cys1046Ter) c.3105C>A (p.Cys1035Ter) c.3318C>A (p.Cys1106Ter) | |
| X | g.53234871C>A | CA413140668 | IQSEC2 | c.3974G>T (p.Cys1325Phe) c.1453+912G>T c.962+912G>T c.316+1451G>T (n.316+1451G>T) c.514+1451G>T (n.514+1451G>T) c.*300G>T (n.*300G>T) c.3815G>T (p.Cys1272Phe) c.3785G>T (p.Cys1262Phe) c.3911G>T (p.Cys1304Phe) c.3200G>T (p.Cys1067Phe) c.3597+912G>T (n.3597+912G>T) c.3547+1451G>T (n.3547+1451G>T) c.3137G>T (p.Cys1046Phe) c.3104G>T (p.Cys1035Phe) c.3317G>T (p.Cys1106Phe) | gnomAD v4 |
| X | g.53234871C>G | CA413140673 | IQSEC2 | c.3974G>C (p.Cys1325Ser) c.1453+912G>C c.962+912G>C c.316+1451G>C (n.316+1451G>C) c.514+1451G>C (n.514+1451G>C) c.*300G>C (n.*300G>C) c.3815G>C (p.Cys1272Ser) c.3785G>C (p.Cys1262Ser) c.3911G>C (p.Cys1304Ser) c.3200G>C (p.Cys1067Ser) c.3597+912G>C (n.3597+912G>C) c.3547+1451G>C (n.3547+1451G>C) c.3137G>C (p.Cys1046Ser) c.3104G>C (p.Cys1035Ser) c.3317G>C (p.Cys1106Ser) | |
| X | g.53234871C>T | CA413140671 | IQSEC2 | c.3974G>A (p.Cys1325Tyr) c.1453+912G>A c.962+912G>A c.316+1451G>A (n.316+1451G>A) c.514+1451G>A (n.514+1451G>A) c.*300G>A (n.*300G>A) c.3815G>A (p.Cys1272Tyr) c.3785G>A (p.Cys1262Tyr) c.3911G>A (p.Cys1304Tyr) c.3200G>A (p.Cys1067Tyr) c.3597+912G>A (n.3597+912G>A) c.3547+1451G>A (n.3547+1451G>A) c.3137G>A (p.Cys1046Tyr) c.3104G>A (p.Cys1035Tyr) c.3317G>A (p.Cys1106Tyr) | |
| X | g.53234872A>C | CA413140676 | IQSEC2 | c.3973T>G (p.Cys1325Gly) c.1453+911T>G c.962+911T>G c.316+1450T>G (n.316+1450T>G) c.514+1450T>G (n.514+1450T>G) c.*299T>G (n.*299T>G) c.3814T>G (p.Cys1272Gly) c.3784T>G (p.Cys1262Gly) c.3910T>G (p.Cys1304Gly) c.3199T>G (p.Cys1067Gly) c.3597+911T>G (n.3597+911T>G) c.3547+1450T>G (n.3547+1450T>G) c.3136T>G (p.Cys1046Gly) c.3103T>G (p.Cys1035Gly) c.3316T>G (p.Cys1106Gly) | |
| X | g.53234872A>G | CA413140679 | IQSEC2 | c.3973T>C (p.Cys1325Arg) c.1453+911T>C c.962+911T>C c.316+1450T>C (n.316+1450T>C) c.514+1450T>C (n.514+1450T>C) c.*299T>C (n.*299T>C) c.3814T>C (p.Cys1272Arg) c.3784T>C (p.Cys1262Arg) c.3910T>C (p.Cys1304Arg) c.3199T>C (p.Cys1067Arg) c.3597+911T>C (n.3597+911T>C) c.3547+1450T>C (n.3547+1450T>C) c.3136T>C (p.Cys1046Arg) c.3103T>C (p.Cys1035Arg) c.3316T>C (p.Cys1106Arg) | |
| X | g.53234872A>T | CA413140681 | IQSEC2 | c.3973T>A (p.Cys1325Ser) c.1453+911T>A c.962+911T>A c.316+1450T>A (n.316+1450T>A) c.514+1450T>A (n.514+1450T>A) c.*299T>A (n.*299T>A) c.3814T>A (p.Cys1272Ser) c.3784T>A (p.Cys1262Ser) c.3910T>A (p.Cys1304Ser) c.3199T>A (p.Cys1067Ser) c.3597+911T>A (n.3597+911T>A) c.3547+1450T>A (n.3547+1450T>A) c.3136T>A (p.Cys1046Ser) c.3103T>A (p.Cys1035Ser) c.3316T>A (p.Cys1106Ser) | |
| X | g.53234873A= | CA2429770626 | IQSEC2 | c.3972T= (p.Tyr1324=) c.1453+910T= c.962+910T= c.316+1449T= (n.316+1449T=) c.514+1449T= (n.514+1449T=) c.*298T= (n.*298T=) c.3813T= (p.Tyr1271=) c.3783T= (p.Tyr1261=) c.3909T= (p.Tyr1303=) c.3198T= (p.Tyr1066=) c.3597+910T= (n.3597+910T=) c.3547+1449T= (n.3547+1449T=) c.3135T= (p.Tyr1045=) c.3102T= (p.Tyr1034=) c.3315T= (p.Tyr1105=) | |
| X | g.53234873A>C | CA413140684 | IQSEC2 | c.3972T>G (p.Tyr1324Ter) c.1453+910T>G c.962+910T>G c.316+1449T>G (n.316+1449T>G) c.514+1449T>G (n.514+1449T>G) c.*298T>G (n.*298T>G) c.3813T>G (p.Tyr1271Ter) c.3783T>G (p.Tyr1261Ter) c.3909T>G (p.Tyr1303Ter) c.3198T>G (p.Tyr1066Ter) c.3597+910T>G (n.3597+910T>G) c.3547+1449T>G (n.3547+1449T>G) c.3135T>G (p.Tyr1045Ter) c.3102T>G (p.Tyr1034Ter) c.3315T>G (p.Tyr1105Ter) | |
| X | g.53234873A>G | CA329162105 | IQSEC2 | c.3972T>C (p.Tyr1324=) c.1453+910T>C c.962+910T>C c.316+1449T>C (n.316+1449T>C) c.514+1449T>C (n.514+1449T>C) c.*298T>C (n.*298T>C) c.3813T>C (p.Tyr1271=) c.3783T>C (p.Tyr1261=) c.3909T>C (p.Tyr1303=) c.3198T>C (p.Tyr1066=) c.3597+910T>C (n.3597+910T>C) c.3547+1449T>C (n.3547+1449T>C) c.3135T>C (p.Tyr1045=) c.3102T>C (p.Tyr1034=) c.3315T>C (p.Tyr1105=) | dbSNP |
| X | g.53234873A>T | CA413140687 | IQSEC2 | c.3972T>A (p.Tyr1324Ter) c.1453+910T>A c.962+910T>A c.316+1449T>A (n.316+1449T>A) c.514+1449T>A (n.514+1449T>A) c.*298T>A (n.*298T>A) c.3813T>A (p.Tyr1271Ter) c.3783T>A (p.Tyr1261Ter) c.3909T>A (p.Tyr1303Ter) c.3198T>A (p.Tyr1066Ter) c.3597+910T>A (n.3597+910T>A) c.3547+1449T>A (n.3547+1449T>A) c.3135T>A (p.Tyr1045Ter) c.3102T>A (p.Tyr1034Ter) c.3315T>A (p.Tyr1105Ter) | |
| X | g.53234874T>A | CA413140689 | IQSEC2 | c.3971A>T (p.Tyr1324Phe) c.1453+909A>T c.962+909A>T c.316+1448A>T (n.316+1448A>T) c.514+1448A>T (n.514+1448A>T) c.*297A>T (n.*297A>T) c.3812A>T (p.Tyr1271Phe) c.3782A>T (p.Tyr1261Phe) c.3908A>T (p.Tyr1303Phe) c.3197A>T (p.Tyr1066Phe) c.3597+909A>T (n.3597+909A>T) c.3547+1448A>T (n.3547+1448A>T) c.3134A>T (p.Tyr1045Phe) c.3101A>T (p.Tyr1034Phe) c.3314A>T (p.Tyr1105Phe) | |
| X | g.53234874T>C | CA413140691 | IQSEC2 | c.3971A>G (p.Tyr1324Cys) c.1453+909A>G c.962+909A>G c.316+1448A>G (n.316+1448A>G) c.514+1448A>G (n.514+1448A>G) c.*297A>G (n.*297A>G) c.3812A>G (p.Tyr1271Cys) c.3782A>G (p.Tyr1261Cys) c.3908A>G (p.Tyr1303Cys) c.3197A>G (p.Tyr1066Cys) c.3597+909A>G (n.3597+909A>G) c.3547+1448A>G (n.3547+1448A>G) c.3134A>G (p.Tyr1045Cys) c.3101A>G (p.Tyr1034Cys) c.3314A>G (p.Tyr1105Cys) | |
| X | g.53234874T>G | CA413140694 | IQSEC2 | c.3971A>C (p.Tyr1324Ser) c.1453+909A>C c.962+909A>C c.316+1448A>C (n.316+1448A>C) c.514+1448A>C (n.514+1448A>C) c.*297A>C (n.*297A>C) c.3812A>C (p.Tyr1271Ser) c.3782A>C (p.Tyr1261Ser) c.3908A>C (p.Tyr1303Ser) c.3197A>C (p.Tyr1066Ser) c.3597+909A>C (n.3597+909A>C) c.3547+1448A>C (n.3547+1448A>C) c.3134A>C (p.Tyr1045Ser) c.3101A>C (p.Tyr1034Ser) c.3314A>C (p.Tyr1105Ser) | |
| X | g.53234875A>C | CA413140698 | IQSEC2 | c.3970T>G (p.Tyr1324Asp) c.1453+908T>G c.962+908T>G c.316+1447T>G (n.316+1447T>G) c.514+1447T>G (n.514+1447T>G) c.*296T>G (n.*296T>G) c.3811T>G (p.Tyr1271Asp) c.3781T>G (p.Tyr1261Asp) c.3907T>G (p.Tyr1303Asp) c.3196T>G (p.Tyr1066Asp) c.3597+908T>G (n.3597+908T>G) c.3547+1447T>G (n.3547+1447T>G) c.3133T>G (p.Tyr1045Asp) c.3100T>G (p.Tyr1034Asp) c.3313T>G (p.Tyr1105Asp) | |
| X | g.53234875A>G | CA413140700 | IQSEC2 | c.3970T>C (p.Tyr1324His) c.1453+908T>C c.962+908T>C c.316+1447T>C (n.316+1447T>C) c.514+1447T>C (n.514+1447T>C) c.*296T>C (n.*296T>C) c.3811T>C (p.Tyr1271His) c.3781T>C (p.Tyr1261His) c.3907T>C (p.Tyr1303His) c.3196T>C (p.Tyr1066His) c.3597+908T>C (n.3597+908T>C) c.3547+1447T>C (n.3547+1447T>C) c.3133T>C (p.Tyr1045His) c.3100T>C (p.Tyr1034His) c.3313T>C (p.Tyr1105His) | |
| X | g.53234875A>T | CA413140703 | IQSEC2 | c.3970T>A (p.Tyr1324Asn) c.1453+908T>A c.962+908T>A c.316+1447T>A (n.316+1447T>A) c.514+1447T>A (n.514+1447T>A) c.*296T>A (n.*296T>A) c.3811T>A (p.Tyr1271Asn) c.3781T>A (p.Tyr1261Asn) c.3907T>A (p.Tyr1303Asn) c.3196T>A (p.Tyr1066Asn) c.3597+908T>A (n.3597+908T>A) c.3547+1447T>A (n.3547+1447T>A) c.3133T>A (p.Tyr1045Asn) c.3100T>A (p.Tyr1034Asn) c.3313T>A (p.Tyr1105Asn) | |
| X | g.53234876C>A | CA413140708 | IQSEC2 | c.3969G>T (p.Gln1323His) c.1453+907G>T c.962+907G>T c.316+1446G>T (n.316+1446G>T) c.514+1446G>T (n.514+1446G>T) c.*295G>T (n.*295G>T) c.3810G>T (p.Gln1270His) c.3780G>T (p.Gln1260His) c.3906G>T (p.Gln1302His) c.3195G>T (p.Gln1065His) c.3597+907G>T (n.3597+907G>T) c.3547+1446G>T (n.3547+1446G>T) c.3132G>T (p.Gln1044His) c.3099G>T (p.Gln1033His) c.3312G>T (p.Gln1104His) | |
| X | g.53234876C>G | CA413140706 | IQSEC2 | c.3969G>C (p.Gln1323His) c.1453+907G>C c.962+907G>C c.316+1446G>C (n.316+1446G>C) c.514+1446G>C (n.514+1446G>C) c.*295G>C (n.*295G>C) c.3810G>C (p.Gln1270His) c.3780G>C (p.Gln1260His) c.3906G>C (p.Gln1302His) c.3195G>C (p.Gln1065His) c.3597+907G>C (n.3597+907G>C) c.3547+1446G>C (n.3547+1446G>C) c.3132G>C (p.Gln1044His) c.3099G>C (p.Gln1033His) c.3312G>C (p.Gln1104His) | |
| X | g.53234876C>T | CA516673820 | IQSEC2 | c.3969G>A (p.Gln1323=) c.1453+907G>A c.962+907G>A c.316+1446G>A (n.316+1446G>A) c.514+1446G>A (n.514+1446G>A) c.*295G>A (n.*295G>A) c.3810G>A (p.Gln1270=) c.3780G>A (p.Gln1260=) c.3906G>A (p.Gln1302=) c.3195G>A (p.Gln1065=) c.3597+907G>A (n.3597+907G>A) c.3547+1446G>A (n.3547+1446G>A) c.3132G>A (p.Gln1044=) c.3099G>A (p.Gln1033=) c.3312G>A (p.Gln1104=) | |
| X | g.53234877T>A | CA413140712 | IQSEC2 | c.3968A>T (p.Gln1323Leu) c.1453+906A>T c.962+906A>T c.316+1445A>T (n.316+1445A>T) c.514+1445A>T (n.514+1445A>T) c.*294A>T (n.*294A>T) c.3809A>T (p.Gln1270Leu) c.3779A>T (p.Gln1260Leu) c.3905A>T (p.Gln1302Leu) c.3194A>T (p.Gln1065Leu) c.3597+906A>T (n.3597+906A>T) c.3547+1445A>T (n.3547+1445A>T) c.3131A>T (p.Gln1044Leu) c.3098A>T (p.Gln1033Leu) c.3311A>T (p.Gln1104Leu) | |
| X | g.53234877T>C | CA413140715 | IQSEC2 | c.3968A>G (p.Gln1323Arg) c.1453+906A>G c.962+906A>G c.316+1445A>G (n.316+1445A>G) c.514+1445A>G (n.514+1445A>G) c.*294A>G (n.*294A>G) c.3809A>G (p.Gln1270Arg) c.3779A>G (p.Gln1260Arg) c.3905A>G (p.Gln1302Arg) c.3194A>G (p.Gln1065Arg) c.3597+906A>G (n.3597+906A>G) c.3547+1445A>G (n.3547+1445A>G) c.3131A>G (p.Gln1044Arg) c.3098A>G (p.Gln1033Arg) c.3311A>G (p.Gln1104Arg) | |
| X | g.53234877T>G | CA413140714 | IQSEC2 | c.3968A>C (p.Gln1323Pro) c.1453+906A>C c.962+906A>C c.316+1445A>C (n.316+1445A>C) c.514+1445A>C (n.514+1445A>C) c.*294A>C (n.*294A>C) c.3809A>C (p.Gln1270Pro) c.3779A>C (p.Gln1260Pro) c.3905A>C (p.Gln1302Pro) c.3194A>C (p.Gln1065Pro) c.3597+906A>C (n.3597+906A>C) c.3547+1445A>C (n.3547+1445A>C) c.3131A>C (p.Gln1044Pro) c.3098A>C (p.Gln1033Pro) c.3311A>C (p.Gln1104Pro) | |
| X | g.53234878G>A | CA413140719 | IQSEC2 | c.3967C>T (p.Gln1323Ter) c.1453+905C>T c.962+905C>T c.316+1444C>T (n.316+1444C>T) c.514+1444C>T (n.514+1444C>T) c.*293C>T (n.*293C>T) c.3808C>T (p.Gln1270Ter) c.3778C>T (p.Gln1260Ter) c.3904C>T (p.Gln1302Ter) c.3193C>T (p.Gln1065Ter) c.3597+905C>T (n.3597+905C>T) c.3547+1444C>T (n.3547+1444C>T) c.3130C>T (p.Gln1044Ter) c.3097C>T (p.Gln1033Ter) c.3310C>T (p.Gln1104Ter) | |
| X | g.53234878G>C | CA413140724 | IQSEC2 | c.3967C>G (p.Gln1323Glu) c.1453+905C>G c.962+905C>G c.316+1444C>G (n.316+1444C>G) c.514+1444C>G (n.514+1444C>G) c.*293C>G (n.*293C>G) c.3808C>G (p.Gln1270Glu) c.3778C>G (p.Gln1260Glu) c.3904C>G (p.Gln1302Glu) c.3193C>G (p.Gln1065Glu) c.3597+905C>G (n.3597+905C>G) c.3547+1444C>G (n.3547+1444C>G) c.3130C>G (p.Gln1044Glu) c.3097C>G (p.Gln1033Glu) c.3310C>G (p.Gln1104Glu) | |
| X | g.53234878G>T | CA413140722 | IQSEC2 | c.3967C>A (p.Gln1323Lys) c.1453+905C>A c.962+905C>A c.316+1444C>A (n.316+1444C>A) c.514+1444C>A (n.514+1444C>A) c.*293C>A (n.*293C>A) c.3808C>A (p.Gln1270Lys) c.3778C>A (p.Gln1260Lys) c.3904C>A (p.Gln1302Lys) c.3193C>A (p.Gln1065Lys) c.3597+905C>A (n.3597+905C>A) c.3547+1444C>A (n.3547+1444C>A) c.3130C>A (p.Gln1044Lys) c.3097C>A (p.Gln1033Lys) c.3310C>A (p.Gln1104Lys) | gnomAD v4 |
| X | g.53234879G>A | CA516673825 | IQSEC2 | c.3966C>T (p.Ala1322=) c.1453+904C>T c.962+904C>T c.316+1443C>T (n.316+1443C>T) c.514+1443C>T (n.514+1443C>T) c.*292C>T (n.*292C>T) c.3807C>T (p.Ala1269=) c.3777C>T (p.Ala1259=) c.3903C>T (p.Ala1301=) c.3192C>T (p.Ala1064=) c.3597+904C>T (n.3597+904C>T) c.3547+1443C>T (n.3547+1443C>T) c.3129C>T (p.Ala1043=) c.3096C>T (p.Ala1032=) c.3309C>T (p.Ala1103=) | gnomAD v4 |
| X | g.53234879G>C | CA516673826 | IQSEC2 | c.3966C>G (p.Ala1322=) c.1453+904C>G c.962+904C>G c.316+1443C>G (n.316+1443C>G) c.514+1443C>G (n.514+1443C>G) c.*292C>G (n.*292C>G) c.3807C>G (p.Ala1269=) c.3777C>G (p.Ala1259=) c.3903C>G (p.Ala1301=) c.3192C>G (p.Ala1064=) c.3597+904C>G (n.3597+904C>G) c.3547+1443C>G (n.3547+1443C>G) c.3129C>G (p.Ala1043=) c.3096C>G (p.Ala1032=) c.3309C>G (p.Ala1103=) | |
| X | g.53234879G>T | CA516673827 | IQSEC2 | c.3966C>A (p.Ala1322=) c.1453+904C>A c.962+904C>A c.316+1443C>A (n.316+1443C>A) c.514+1443C>A (n.514+1443C>A) c.*292C>A (n.*292C>A) c.3807C>A (p.Ala1269=) c.3777C>A (p.Ala1259=) c.3903C>A (p.Ala1301=) c.3192C>A (p.Ala1064=) c.3597+904C>A (n.3597+904C>A) c.3547+1443C>A (n.3547+1443C>A) c.3129C>A (p.Ala1043=) c.3096C>A (p.Ala1032=) c.3309C>A (p.Ala1103=) | |
| X | g.53234880G>A | CA413140728 | IQSEC2 | c.3965C>T (p.Ala1322Val) c.1453+903C>T c.962+903C>T c.316+1442C>T (n.316+1442C>T) c.514+1442C>T (n.514+1442C>T) c.*291C>T (n.*291C>T) c.3806C>T (p.Ala1269Val) c.3776C>T (p.Ala1259Val) c.3902C>T (p.Ala1301Val) c.3191C>T (p.Ala1064Val) c.3597+903C>T (n.3597+903C>T) c.3547+1442C>T (n.3547+1442C>T) c.3128C>T (p.Ala1043Val) c.3095C>T (p.Ala1032Val) c.3308C>T (p.Ala1103Val) | gnomAD v4 |
| X | g.53234880G>C | CA413140731 | IQSEC2 | c.3965C>G (p.Ala1322Gly) c.1453+903C>G c.962+903C>G c.316+1442C>G (n.316+1442C>G) c.514+1442C>G (n.514+1442C>G) c.*291C>G (n.*291C>G) c.3806C>G (p.Ala1269Gly) c.3776C>G (p.Ala1259Gly) c.3902C>G (p.Ala1301Gly) c.3191C>G (p.Ala1064Gly) c.3597+903C>G (n.3597+903C>G) c.3547+1442C>G (n.3547+1442C>G) c.3128C>G (p.Ala1043Gly) c.3095C>G (p.Ala1032Gly) c.3308C>G (p.Ala1103Gly) | |
| X | g.53234880G>T | CA413140733 | IQSEC2 | c.3965C>A (p.Ala1322Asp) c.1453+903C>A c.962+903C>A c.316+1442C>A (n.316+1442C>A) c.514+1442C>A (n.514+1442C>A) c.*291C>A (n.*291C>A) c.3806C>A (p.Ala1269Asp) c.3776C>A (p.Ala1259Asp) c.3902C>A (p.Ala1301Asp) c.3191C>A (p.Ala1064Asp) c.3597+903C>A (n.3597+903C>A) c.3547+1442C>A (n.3547+1442C>A) c.3128C>A (p.Ala1043Asp) c.3095C>A (p.Ala1032Asp) c.3308C>A (p.Ala1103Asp) | |
| X | g.53234881C>A | CA413140736 | IQSEC2 | c.3964G>T (p.Ala1322Ser) c.1453+902G>T c.962+902G>T c.316+1441G>T (n.316+1441G>T) c.514+1441G>T (n.514+1441G>T) c.*290G>T (n.*290G>T) c.3805G>T (p.Ala1269Ser) c.3775G>T (p.Ala1259Ser) c.3901G>T (p.Ala1301Ser) c.3190G>T (p.Ala1064Ser) c.3597+902G>T (n.3597+902G>T) c.3547+1441G>T (n.3547+1441G>T) c.3127G>T (p.Ala1043Ser) c.3094G>T (p.Ala1032Ser) c.3307G>T (p.Ala1103Ser) | |
| X | g.53234881C>G | CA413140738 | IQSEC2 | c.3964G>C (p.Ala1322Pro) c.1453+902G>C c.962+902G>C c.316+1441G>C (n.316+1441G>C) c.514+1441G>C (n.514+1441G>C) c.*290G>C (n.*290G>C) c.3805G>C (p.Ala1269Pro) c.3775G>C (p.Ala1259Pro) c.3901G>C (p.Ala1301Pro) c.3190G>C (p.Ala1064Pro) c.3597+902G>C (n.3597+902G>C) c.3547+1441G>C (n.3547+1441G>C) c.3127G>C (p.Ala1043Pro) c.3094G>C (p.Ala1032Pro) c.3307G>C (p.Ala1103Pro) | |
| X | g.53234881C>T | CA413140742 | IQSEC2 | c.3964G>A (p.Ala1322Thr) c.1453+902G>A c.962+902G>A c.316+1441G>A (n.316+1441G>A) c.514+1441G>A (n.514+1441G>A) c.*290G>A (n.*290G>A) c.3805G>A (p.Ala1269Thr) c.3775G>A (p.Ala1259Thr) c.3901G>A (p.Ala1301Thr) c.3190G>A (p.Ala1064Thr) c.3597+902G>A (n.3597+902G>A) c.3547+1441G>A (n.3547+1441G>A) c.3127G>A (p.Ala1043Thr) c.3094G>A (p.Ala1032Thr) c.3307G>A (p.Ala1103Thr) | |
| X | g.53234882del | CA2521841319 | IQSEC2 | c.3963del (p.His1321GlnfsTer?) c.1453+901del c.962+901del c.316+1440del (n.316+1440del) c.514+1440del (n.514+1440del) c.*289del (n.*289del) c.3804del (p.His1268GlnfsTer?) c.3774del (p.His1258GlnfsTer?) c.3900del (p.His1300GlnfsTer?) c.3189del (p.His1063GlnfsTer?) c.3597+901del (n.3597+901del) c.3547+1440del (n.3547+1440del) c.3126del (p.His1042GlnfsTer?) c.3093del (p.His1031GlnfsTer?) c.3306del (p.His1102GlnfsTer?) | |
| X | g.53234882A>C | CA413140748 | IQSEC2 | c.3963T>G (p.His1321Gln) c.1453+901T>G c.962+901T>G c.316+1440T>G (n.316+1440T>G) c.514+1440T>G (n.514+1440T>G) c.*289T>G (n.*289T>G) c.3804T>G (p.His1268Gln) c.3774T>G (p.His1258Gln) c.3900T>G (p.His1300Gln) c.3189T>G (p.His1063Gln) c.3597+901T>G (n.3597+901T>G) c.3547+1440T>G (n.3547+1440T>G) c.3126T>G (p.His1042Gln) c.3093T>G (p.His1031Gln) c.3306T>G (p.His1102Gln) | |
| X | g.53234882A>G | CA516673834 | IQSEC2 | c.3963T>C (p.His1321=) c.1453+901T>C c.962+901T>C c.316+1440T>C (n.316+1440T>C) c.514+1440T>C (n.514+1440T>C) c.*289T>C (n.*289T>C) c.3804T>C (p.His1268=) c.3774T>C (p.His1258=) c.3900T>C (p.His1300=) c.3189T>C (p.His1063=) c.3597+901T>C (n.3597+901T>C) c.3547+1440T>C (n.3547+1440T>C) c.3126T>C (p.His1042=) c.3093T>C (p.His1031=) c.3306T>C (p.His1102=) | |
| X | g.53234882A>T | CA413140745 | IQSEC2 | c.3963T>A (p.His1321Gln) c.1453+901T>A c.962+901T>A c.316+1440T>A (n.316+1440T>A) c.514+1440T>A (n.514+1440T>A) c.*289T>A (n.*289T>A) c.3804T>A (p.His1268Gln) c.3774T>A (p.His1258Gln) c.3900T>A (p.His1300Gln) c.3189T>A (p.His1063Gln) c.3597+901T>A (n.3597+901T>A) c.3547+1440T>A (n.3547+1440T>A) c.3126T>A (p.His1042Gln) c.3093T>A (p.His1031Gln) c.3306T>A (p.His1102Gln) | |
| X | g.53234883T>A | CA413140751 | IQSEC2 | c.3962A>T (p.His1321Leu) c.1453+900A>T c.962+900A>T c.316+1439A>T (n.316+1439A>T) c.514+1439A>T (n.514+1439A>T) c.*288A>T (n.*288A>T) c.3803A>T (p.His1268Leu) c.3773A>T (p.His1258Leu) c.3899A>T (p.His1300Leu) c.3188A>T (p.His1063Leu) c.3597+900A>T (n.3597+900A>T) c.3547+1439A>T (n.3547+1439A>T) c.3125A>T (p.His1042Leu) c.3092A>T (p.His1031Leu) c.3305A>T (p.His1102Leu) | |
| X | g.53234883T>C | CA413140753 | IQSEC2 | c.3962A>G (p.His1321Arg) c.1453+900A>G c.962+900A>G c.316+1439A>G (n.316+1439A>G) c.514+1439A>G (n.514+1439A>G) c.*288A>G (n.*288A>G) c.3803A>G (p.His1268Arg) c.3773A>G (p.His1258Arg) c.3899A>G (p.His1300Arg) c.3188A>G (p.His1063Arg) c.3597+900A>G (n.3597+900A>G) c.3547+1439A>G (n.3547+1439A>G) c.3125A>G (p.His1042Arg) c.3092A>G (p.His1031Arg) c.3305A>G (p.His1102Arg) | gnomAD v4 COSMIC COSMIC |
| X | g.53234883T>G | CA413140756 | IQSEC2 | c.3962A>C (p.His1321Pro) c.1453+900A>C c.962+900A>C c.316+1439A>C (n.316+1439A>C) c.514+1439A>C (n.514+1439A>C) c.*288A>C (n.*288A>C) c.3803A>C (p.His1268Pro) c.3773A>C (p.His1258Pro) c.3899A>C (p.His1300Pro) c.3188A>C (p.His1063Pro) c.3597+900A>C (n.3597+900A>C) c.3547+1439A>C (n.3547+1439A>C) c.3125A>C (p.His1042Pro) c.3092A>C (p.His1031Pro) c.3305A>C (p.His1102Pro) | |
| X | g.53234884G>A | CA413140760 | IQSEC2 | c.3961C>T (p.His1321Tyr) c.1453+899C>T c.962+899C>T c.316+1438C>T (n.316+1438C>T) c.514+1438C>T (n.514+1438C>T) c.*287C>T (n.*287C>T) c.3802C>T (p.His1268Tyr) c.3772C>T (p.His1258Tyr) c.3898C>T (p.His1300Tyr) c.3187C>T (p.His1063Tyr) c.3597+899C>T (n.3597+899C>T) c.3547+1438C>T (n.3547+1438C>T) c.3124C>T (p.His1042Tyr) c.3091C>T (p.His1031Tyr) c.3304C>T (p.His1102Tyr) | |
| X | g.53234884G>C | CA413140762 | IQSEC2 | c.3961C>G (p.His1321Asp) c.1453+899C>G c.962+899C>G c.316+1438C>G (n.316+1438C>G) c.514+1438C>G (n.514+1438C>G) c.*287C>G (n.*287C>G) c.3802C>G (p.His1268Asp) c.3772C>G (p.His1258Asp) c.3898C>G (p.His1300Asp) c.3187C>G (p.His1063Asp) c.3597+899C>G (n.3597+899C>G) c.3547+1438C>G (n.3547+1438C>G) c.3124C>G (p.His1042Asp) c.3091C>G (p.His1031Asp) c.3304C>G (p.His1102Asp) | |
| X | g.53234884G>T | CA413140764 | IQSEC2 | c.3961C>A (p.His1321Asn) c.1453+899C>A c.962+899C>A c.316+1438C>A (n.316+1438C>A) c.514+1438C>A (n.514+1438C>A) c.*287C>A (n.*287C>A) c.3802C>A (p.His1268Asn) c.3772C>A (p.His1258Asn) c.3898C>A (p.His1300Asn) c.3187C>A (p.His1063Asn) c.3597+899C>A (n.3597+899C>A) c.3547+1438C>A (n.3547+1438C>A) c.3124C>A (p.His1042Asn) c.3091C>A (p.His1031Asn) c.3304C>A (p.His1102Asn) | |
| X | g.53234885C>A | CA516673841 | IQSEC2 | c.3960G>T (p.Leu1320=) c.1453+898G>T c.962+898G>T c.316+1437G>T (n.316+1437G>T) c.514+1437G>T (n.514+1437G>T) c.*286G>T (n.*286G>T) c.3801G>T (p.Leu1267=) c.3771G>T (p.Leu1257=) c.3897G>T (p.Leu1299=) c.3186G>T (p.Leu1062=) c.3597+898G>T (n.3597+898G>T) c.3547+1437G>T (n.3547+1437G>T) c.3123G>T (p.Leu1041=) c.3090G>T (p.Leu1030=) c.3303G>T (p.Leu1101=) | |
| X | g.53234885C>G | CA516673842 | IQSEC2 | c.3960G>C (p.Leu1320=) c.1453+898G>C c.962+898G>C c.316+1437G>C (n.316+1437G>C) c.514+1437G>C (n.514+1437G>C) c.*286G>C (n.*286G>C) c.3801G>C (p.Leu1267=) c.3771G>C (p.Leu1257=) c.3897G>C (p.Leu1299=) c.3186G>C (p.Leu1062=) c.3597+898G>C (n.3597+898G>C) c.3547+1437G>C (n.3547+1437G>C) c.3123G>C (p.Leu1041=) c.3090G>C (p.Leu1030=) c.3303G>C (p.Leu1101=) | |
| X | g.53234885C>T | CA516673843 | IQSEC2 | c.3960G>A (p.Leu1320=) c.1453+898G>A c.962+898G>A c.316+1437G>A (n.316+1437G>A) c.514+1437G>A (n.514+1437G>A) c.*286G>A (n.*286G>A) c.3801G>A (p.Leu1267=) c.3771G>A (p.Leu1257=) c.3897G>A (p.Leu1299=) c.3186G>A (p.Leu1062=) c.3597+898G>A (n.3597+898G>A) c.3547+1437G>A (n.3547+1437G>A) c.3123G>A (p.Leu1041=) c.3090G>A (p.Leu1030=) c.3303G>A (p.Leu1101=) | |
| X | g.53234886A>C | CA413140767 | IQSEC2 | c.3959T>G (p.Leu1320Arg) c.1453+897T>G c.962+897T>G c.316+1436T>G (n.316+1436T>G) c.514+1436T>G (n.514+1436T>G) c.*285T>G (n.*285T>G) c.3800T>G (p.Leu1267Arg) c.3770T>G (p.Leu1257Arg) c.3896T>G (p.Leu1299Arg) c.3185T>G (p.Leu1062Arg) c.3597+897T>G (n.3597+897T>G) c.3547+1436T>G (n.3547+1436T>G) c.3122T>G (p.Leu1041Arg) c.3089T>G (p.Leu1030Arg) c.3302T>G (p.Leu1101Arg) | |
| X | g.53234886A>G | CA413140771 | IQSEC2 | c.3959T>C (p.Leu1320Pro) c.1453+897T>C c.962+897T>C c.316+1436T>C (n.316+1436T>C) c.514+1436T>C (n.514+1436T>C) c.*285T>C (n.*285T>C) c.3800T>C (p.Leu1267Pro) c.3770T>C (p.Leu1257Pro) c.3896T>C (p.Leu1299Pro) c.3185T>C (p.Leu1062Pro) c.3597+897T>C (n.3597+897T>C) c.3547+1436T>C (n.3547+1436T>C) c.3122T>C (p.Leu1041Pro) c.3089T>C (p.Leu1030Pro) c.3302T>C (p.Leu1101Pro) | |
| X | g.53234886A>T | CA413140770 | IQSEC2 | c.3959T>A (p.Leu1320Gln) c.1453+897T>A c.962+897T>A c.316+1436T>A (n.316+1436T>A) c.514+1436T>A (n.514+1436T>A) c.*285T>A (n.*285T>A) c.3800T>A (p.Leu1267Gln) c.3770T>A (p.Leu1257Gln) c.3896T>A (p.Leu1299Gln) c.3185T>A (p.Leu1062Gln) c.3597+897T>A (n.3597+897T>A) c.3547+1436T>A (n.3547+1436T>A) c.3122T>A (p.Leu1041Gln) c.3089T>A (p.Leu1030Gln) c.3302T>A (p.Leu1101Gln) | |
| X | g.53234887G>A | CA516673848 | IQSEC2 | c.3958C>T (p.Leu1320=) c.1453+896C>T c.962+896C>T c.316+1435C>T (n.316+1435C>T) c.514+1435C>T (n.514+1435C>T) c.*284C>T (n.*284C>T) c.3799C>T (p.Leu1267=) c.3769C>T (p.Leu1257=) c.3895C>T (p.Leu1299=) c.3184C>T (p.Leu1062=) c.3597+896C>T (n.3597+896C>T) c.3547+1435C>T (n.3547+1435C>T) c.3121C>T (p.Leu1041=) c.3088C>T (p.Leu1030=) c.3301C>T (p.Leu1101=) | |
| X | g.53234887G>C | CA413140773 | IQSEC2 | c.3958C>G (p.Leu1320Val) c.1453+896C>G c.962+896C>G c.316+1435C>G (n.316+1435C>G) c.514+1435C>G (n.514+1435C>G) c.*284C>G (n.*284C>G) c.3799C>G (p.Leu1267Val) c.3769C>G (p.Leu1257Val) c.3895C>G (p.Leu1299Val) c.3184C>G (p.Leu1062Val) c.3597+896C>G (n.3597+896C>G) c.3547+1435C>G (n.3547+1435C>G) c.3121C>G (p.Leu1041Val) c.3088C>G (p.Leu1030Val) c.3301C>G (p.Leu1101Val) | |
| X | g.53234887G>T | CA413140776 | IQSEC2 | c.3958C>A (p.Leu1320Met) c.1453+896C>A c.962+896C>A c.316+1435C>A (n.316+1435C>A) c.514+1435C>A (n.514+1435C>A) c.*284C>A (n.*284C>A) c.3799C>A (p.Leu1267Met) c.3769C>A (p.Leu1257Met) c.3895C>A (p.Leu1299Met) c.3184C>A (p.Leu1062Met) c.3597+896C>A (n.3597+896C>A) c.3547+1435C>A (n.3547+1435C>A) c.3121C>A (p.Leu1041Met) c.3088C>A (p.Leu1030Met) c.3301C>A (p.Leu1101Met) | |
| X | g.53234888G>A | CA516673849 | IQSEC2 | c.3957C>T (p.Ala1319=) c.1453+895C>T c.962+895C>T c.316+1434C>T (n.316+1434C>T) c.514+1434C>T (n.514+1434C>T) c.*283C>T (n.*283C>T) c.3798C>T (p.Ala1266=) c.3768C>T (p.Ala1256=) c.3894C>T (p.Ala1298=) c.3183C>T (p.Ala1061=) c.3597+895C>T (n.3597+895C>T) c.3547+1434C>T (n.3547+1434C>T) c.3120C>T (p.Ala1040=) c.3087C>T (p.Ala1029=) c.3300C>T (p.Ala1100=) | COSMIC COSMIC |
| X | g.53234888G>C | CA516673850 | IQSEC2 | c.3957C>G (p.Ala1319=) c.1453+895C>G c.962+895C>G c.316+1434C>G (n.316+1434C>G) c.514+1434C>G (n.514+1434C>G) c.*283C>G (n.*283C>G) c.3798C>G (p.Ala1266=) c.3768C>G (p.Ala1256=) c.3894C>G (p.Ala1298=) c.3183C>G (p.Ala1061=) c.3597+895C>G (n.3597+895C>G) c.3547+1434C>G (n.3547+1434C>G) c.3120C>G (p.Ala1040=) c.3087C>G (p.Ala1029=) c.3300C>G (p.Ala1100=) | |
| X | g.53234888G>T | CA516673852 | IQSEC2 | c.3957C>A (p.Ala1319=) c.1453+895C>A c.962+895C>A c.316+1434C>A (n.316+1434C>A) c.514+1434C>A (n.514+1434C>A) c.*283C>A (n.*283C>A) c.3798C>A (p.Ala1266=) c.3768C>A (p.Ala1256=) c.3894C>A (p.Ala1298=) c.3183C>A (p.Ala1061=) c.3597+895C>A (n.3597+895C>A) c.3547+1434C>A (n.3547+1434C>A) c.3120C>A (p.Ala1040=) c.3087C>A (p.Ala1029=) c.3300C>A (p.Ala1100=) | ClinVar dbSNP gnomAD v4 |
| X | g.53234889G>A | CA413140778 | IQSEC2 | c.3956C>T (p.Ala1319Val) c.1453+894C>T c.962+894C>T c.316+1433C>T (n.316+1433C>T) c.514+1433C>T (n.514+1433C>T) c.*282C>T (n.*282C>T) c.3797C>T (p.Ala1266Val) c.3767C>T (p.Ala1256Val) c.3893C>T (p.Ala1298Val) c.3182C>T (p.Ala1061Val) c.3597+894C>T (n.3597+894C>T) c.3547+1433C>T (n.3547+1433C>T) c.3119C>T (p.Ala1040Val) c.3086C>T (p.Ala1029Val) c.3299C>T (p.Ala1100Val) | |
| X | g.53234889G>C | CA413140791 | IQSEC2 | c.3956C>G (p.Ala1319Gly) c.1453+894C>G c.962+894C>G c.316+1433C>G (n.316+1433C>G) c.514+1433C>G (n.514+1433C>G) c.*282C>G (n.*282C>G) c.3797C>G (p.Ala1266Gly) c.3767C>G (p.Ala1256Gly) c.3893C>G (p.Ala1298Gly) c.3182C>G (p.Ala1061Gly) c.3597+894C>G (n.3597+894C>G) c.3547+1433C>G (n.3547+1433C>G) c.3119C>G (p.Ala1040Gly) c.3086C>G (p.Ala1029Gly) c.3299C>G (p.Ala1100Gly) | |
| X | g.53234889G>T | CA413140794 | IQSEC2 | c.3956C>A (p.Ala1319Asp) c.1453+894C>A c.962+894C>A c.316+1433C>A (n.316+1433C>A) c.514+1433C>A (n.514+1433C>A) c.*282C>A (n.*282C>A) c.3797C>A (p.Ala1266Asp) c.3767C>A (p.Ala1256Asp) c.3893C>A (p.Ala1298Asp) c.3182C>A (p.Ala1061Asp) c.3597+894C>A (n.3597+894C>A) c.3547+1433C>A (n.3547+1433C>A) c.3119C>A (p.Ala1040Asp) c.3086C>A (p.Ala1029Asp) c.3299C>A (p.Ala1100Asp) | |
| X | g.53234890C>A | CA413140797 | IQSEC2 | c.3955G>T (p.Ala1319Ser) c.1453+893G>T c.962+893G>T c.316+1432G>T (n.316+1432G>T) c.514+1432G>T (n.514+1432G>T) c.*281G>T (n.*281G>T) c.3796G>T (p.Ala1266Ser) c.3766G>T (p.Ala1256Ser) c.3892G>T (p.Ala1298Ser) c.3181G>T (p.Ala1061Ser) c.3597+893G>T (n.3597+893G>T) c.3547+1432G>T (n.3547+1432G>T) c.3118G>T (p.Ala1040Ser) c.3085G>T (p.Ala1029Ser) c.3298G>T (p.Ala1100Ser) | |
| X | g.53234890C>G | CA413140801 | IQSEC2 | c.3955G>C (p.Ala1319Pro) c.1453+893G>C c.962+893G>C c.316+1432G>C (n.316+1432G>C) c.514+1432G>C (n.514+1432G>C) c.*281G>C (n.*281G>C) c.3796G>C (p.Ala1266Pro) c.3766G>C (p.Ala1256Pro) c.3892G>C (p.Ala1298Pro) c.3181G>C (p.Ala1061Pro) c.3597+893G>C (n.3597+893G>C) c.3547+1432G>C (n.3547+1432G>C) c.3118G>C (p.Ala1040Pro) c.3085G>C (p.Ala1029Pro) c.3298G>C (p.Ala1100Pro) | |
| X | g.53234890C>T | CA413140804 | IQSEC2 | c.3955G>A (p.Ala1319Thr) c.1453+893G>A c.962+893G>A c.316+1432G>A (n.316+1432G>A) c.514+1432G>A (n.514+1432G>A) c.*281G>A (n.*281G>A) c.3796G>A (p.Ala1266Thr) c.3766G>A (p.Ala1256Thr) c.3892G>A (p.Ala1298Thr) c.3181G>A (p.Ala1061Thr) c.3597+893G>A (n.3597+893G>A) c.3547+1432G>A (n.3547+1432G>A) c.3118G>A (p.Ala1040Thr) c.3085G>A (p.Ala1029Thr) c.3298G>A (p.Ala1100Thr) | |
| X | g.53234891C>A | CA413140805 | IQSEC2 | c.3954G>T (p.Gln1318His) c.1453+892G>T c.962+892G>T c.316+1431G>T (n.316+1431G>T) c.514+1431G>T (n.514+1431G>T) c.*280G>T (n.*280G>T) c.3795G>T (p.Gln1265His) c.3765G>T (p.Gln1255His) c.3891G>T (p.Gln1297His) c.3180G>T (p.Gln1060His) c.3597+892G>T (n.3597+892G>T) c.3547+1431G>T (n.3547+1431G>T) c.3117G>T (p.Gln1039His) c.3084G>T (p.Gln1028His) c.3297G>T (p.Gln1099His) | gnomAD v4 |
| X | g.53234891C>G | CA413140808 | IQSEC2 | c.3954G>C (p.Gln1318His) c.1453+892G>C c.962+892G>C c.316+1431G>C (n.316+1431G>C) c.514+1431G>C (n.514+1431G>C) c.*280G>C (n.*280G>C) c.3795G>C (p.Gln1265His) c.3765G>C (p.Gln1255His) c.3891G>C (p.Gln1297His) c.3180G>C (p.Gln1060His) c.3597+892G>C (n.3597+892G>C) c.3547+1431G>C (n.3547+1431G>C) c.3117G>C (p.Gln1039His) c.3084G>C (p.Gln1028His) c.3297G>C (p.Gln1099His) | |
| X | g.53234891C>T | CA516673859 | IQSEC2 | c.3954G>A (p.Gln1318=) c.1453+892G>A c.962+892G>A c.316+1431G>A (n.316+1431G>A) c.514+1431G>A (n.514+1431G>A) c.*280G>A (n.*280G>A) c.3795G>A (p.Gln1265=) c.3765G>A (p.Gln1255=) c.3891G>A (p.Gln1297=) c.3180G>A (p.Gln1060=) c.3597+892G>A (n.3597+892G>A) c.3547+1431G>A (n.3547+1431G>A) c.3117G>A (p.Gln1039=) c.3084G>A (p.Gln1028=) c.3297G>A (p.Gln1099=) | |
| X | g.53234892T>A | CA413140813 | IQSEC2 | c.3953A>T (p.Gln1318Leu) c.1453+891A>T c.962+891A>T c.316+1430A>T (n.316+1430A>T) c.514+1430A>T (n.514+1430A>T) c.*279A>T (n.*279A>T) c.3794A>T (p.Gln1265Leu) c.3764A>T (p.Gln1255Leu) c.3890A>T (p.Gln1297Leu) c.3179A>T (p.Gln1060Leu) c.3597+891A>T (n.3597+891A>T) c.3547+1430A>T (n.3547+1430A>T) c.3116A>T (p.Gln1039Leu) c.3083A>T (p.Gln1028Leu) c.3296A>T (p.Gln1099Leu) | |
| X | g.53234892T>C | CA413140820 | IQSEC2 | c.3953A>G (p.Gln1318Arg) c.1453+891A>G c.962+891A>G c.316+1430A>G (n.316+1430A>G) c.514+1430A>G (n.514+1430A>G) c.*279A>G (n.*279A>G) c.3794A>G (p.Gln1265Arg) c.3764A>G (p.Gln1255Arg) c.3890A>G (p.Gln1297Arg) c.3179A>G (p.Gln1060Arg) c.3597+891A>G (n.3597+891A>G) c.3547+1430A>G (n.3547+1430A>G) c.3116A>G (p.Gln1039Arg) c.3083A>G (p.Gln1028Arg) c.3296A>G (p.Gln1099Arg) | |
| X | g.53234892T>G | CA413140818 | IQSEC2 | c.3953A>C (p.Gln1318Pro) c.1453+891A>C c.962+891A>C c.316+1430A>C (n.316+1430A>C) c.514+1430A>C (n.514+1430A>C) c.*279A>C (n.*279A>C) c.3794A>C (p.Gln1265Pro) c.3764A>C (p.Gln1255Pro) c.3890A>C (p.Gln1297Pro) c.3179A>C (p.Gln1060Pro) c.3597+891A>C (n.3597+891A>C) c.3547+1430A>C (n.3547+1430A>C) c.3116A>C (p.Gln1039Pro) c.3083A>C (p.Gln1028Pro) c.3296A>C (p.Gln1099Pro) | |
| 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) |