| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53248219A= | CA2429774934 | IQSEC2 | c.2636T= (p.Met879=) c.429T= c.2477T= (p.Met826=) n.228T= c.2447T= (p.Met816=) c.1862T= (p.Met621=) c.2573T= (p.Met858=) c.1799T= (p.Met600=) c.1766T= (p.Met589=) n.2800T= c.1979T= (p.Met660=) n.2794T= | |
| X | g.53248219A>C | CA413157406 | IQSEC2 | c.2636T>G (p.Met879Arg) c.429T>G c.2477T>G (p.Met826Arg) n.228T>G c.2447T>G (p.Met816Arg) c.1862T>G (p.Met621Arg) c.2573T>G (p.Met858Arg) c.1799T>G (p.Met600Arg) c.1766T>G (p.Met589Arg) n.2800T>G c.1979T>G (p.Met660Arg) n.2794T>G | |
| X | g.53248219A>G | CA16609408 | IQSEC2 | c.2636T>C (p.Met879Thr) c.429T>C c.2477T>C (p.Met826Thr) n.228T>C c.2447T>C (p.Met816Thr) c.1862T>C (p.Met621Thr) c.2573T>C (p.Met858Thr) c.1799T>C (p.Met600Thr) c.1766T>C (p.Met589Thr) n.2800T>C c.1979T>C (p.Met660Thr) n.2794T>C | ClinVar dbSNP |
| X | g.53248219A>T | CA413157411 | IQSEC2 | c.2636T>A (p.Met879Lys) c.429T>A c.2477T>A (p.Met826Lys) n.228T>A c.2447T>A (p.Met816Lys) c.1862T>A (p.Met621Lys) c.2573T>A (p.Met858Lys) c.1799T>A (p.Met600Lys) c.1766T>A (p.Met589Lys) n.2800T>A c.1979T>A (p.Met660Lys) n.2794T>A | |
| X | g.53248220T>A | CA413157415 | IQSEC2 | c.2635A>T (p.Met879Leu) c.428A>T c.2476A>T (p.Met826Leu) n.227A>T c.2446A>T (p.Met816Leu) c.1861A>T (p.Met621Leu) c.2572A>T (p.Met858Leu) c.1798A>T (p.Met600Leu) c.1765A>T (p.Met589Leu) n.2799A>T c.1978A>T (p.Met660Leu) n.2793A>T | |
| X | g.53248220T>C | CA413157418 | IQSEC2 | c.2635A>G (p.Met879Val) c.428A>G c.2476A>G (p.Met826Val) n.227A>G c.2446A>G (p.Met816Val) c.1861A>G (p.Met621Val) c.2572A>G (p.Met858Val) c.1798A>G (p.Met600Val) c.1765A>G (p.Met589Val) n.2799A>G c.1978A>G (p.Met660Val) n.2793A>G | |
| X | g.53248220T>G | CA413157420 | IQSEC2 | c.2635A>C (p.Met879Leu) c.428A>C c.2476A>C (p.Met826Leu) n.227A>C c.2446A>C (p.Met816Leu) c.1861A>C (p.Met621Leu) c.2572A>C (p.Met858Leu) c.1798A>C (p.Met600Leu) c.1765A>C (p.Met589Leu) n.2799A>C c.1978A>C (p.Met660Leu) n.2793A>C | |
| X | g.53248221C>A | CA413157423 | IQSEC2 | c.2634G>T (p.Glu878Asp) c.427G>T c.2475G>T (p.Glu825Asp) n.226G>T c.2445G>T (p.Glu815Asp) c.1860G>T (p.Glu620Asp) c.2571G>T (p.Glu857Asp) c.1797G>T (p.Glu599Asp) c.1764G>T (p.Glu588Asp) n.2798G>T c.1977G>T (p.Glu659Asp) n.2792G>T | |
| X | g.53248221C>G | CA413157429 | IQSEC2 | c.2634G>C (p.Glu878Asp) c.427G>C c.2475G>C (p.Glu825Asp) n.226G>C c.2445G>C (p.Glu815Asp) c.1860G>C (p.Glu620Asp) c.2571G>C (p.Glu857Asp) c.1797G>C (p.Glu599Asp) c.1764G>C (p.Glu588Asp) n.2798G>C c.1977G>C (p.Glu659Asp) n.2792G>C | ClinVar |
| X | g.53248221C>T | CA516428324 | IQSEC2 | c.2634G>A (p.Glu878=) c.427G>A c.2475G>A (p.Glu825=) n.226G>A c.2445G>A (p.Glu815=) c.1860G>A (p.Glu620=) c.2571G>A (p.Glu857=) c.1797G>A (p.Glu599=) c.1764G>A (p.Glu588=) n.2798G>A c.1977G>A (p.Glu659=) n.2792G>A | |
| X | g.53248222T>A | CA413157432 | IQSEC2 | c.2633A>T (p.Glu878Val) c.426A>T c.2474A>T (p.Glu825Val) n.225A>T c.2444A>T (p.Glu815Val) c.1859A>T (p.Glu620Val) c.2570A>T (p.Glu857Val) c.1796A>T (p.Glu599Val) c.1763A>T (p.Glu588Val) n.2797A>T c.1976A>T (p.Glu659Val) n.2791A>T | |
| X | g.53248222T>C | CA413157436 | IQSEC2 | c.2633A>G (p.Glu878Gly) c.426A>G c.2474A>G (p.Glu825Gly) n.225A>G c.2444A>G (p.Glu815Gly) c.1859A>G (p.Glu620Gly) c.2570A>G (p.Glu857Gly) c.1796A>G (p.Glu599Gly) c.1763A>G (p.Glu588Gly) n.2797A>G c.1976A>G (p.Glu659Gly) n.2791A>G | |
| X | g.53248222T>G | CA413157434 | IQSEC2 | c.2633A>C (p.Glu878Ala) c.426A>C c.2474A>C (p.Glu825Ala) n.225A>C c.2444A>C (p.Glu815Ala) c.1859A>C (p.Glu620Ala) c.2570A>C (p.Glu857Ala) c.1796A>C (p.Glu599Ala) c.1763A>C (p.Glu588Ala) n.2797A>C c.1976A>C (p.Glu659Ala) n.2791A>C | |
| X | g.53248223C>A | CA413157441 | IQSEC2 | c.2632G>T (p.Glu878Ter) c.425G>T c.2473G>T (p.Glu825Ter) n.224G>T c.2443G>T (p.Glu815Ter) c.1858G>T (p.Glu620Ter) c.2569G>T (p.Glu857Ter) c.1795G>T (p.Glu599Ter) c.1762G>T (p.Glu588Ter) n.2796G>T c.1975G>T (p.Glu659Ter) n.2790G>T | |
| X | g.53248223C>G | CA413157444 | IQSEC2 | c.2632G>C (p.Glu878Gln) c.425G>C c.2473G>C (p.Glu825Gln) n.224G>C c.2443G>C (p.Glu815Gln) c.1858G>C (p.Glu620Gln) c.2569G>C (p.Glu857Gln) c.1795G>C (p.Glu599Gln) c.1762G>C (p.Glu588Gln) n.2796G>C c.1975G>C (p.Glu659Gln) n.2790G>C | COSMIC |
| X | g.53248223C>T | CA413157446 | IQSEC2 | c.2632G>A (p.Glu878Lys) c.425G>A c.2473G>A (p.Glu825Lys) n.224G>A c.2443G>A (p.Glu815Lys) c.1858G>A (p.Glu620Lys) c.2569G>A (p.Glu857Lys) c.1795G>A (p.Glu599Lys) c.1762G>A (p.Glu588Lys) n.2796G>A c.1975G>A (p.Glu659Lys) n.2790G>A | |
| X | g.53248224A>C | CA413157451 | IQSEC2 | c.2631T>G (p.Asp877Glu) c.424T>G c.2472T>G (p.Asp824Glu) n.223T>G c.2442T>G (p.Asp814Glu) c.1857T>G (p.Asp619Glu) c.2568T>G (p.Asp856Glu) c.1794T>G (p.Asp598Glu) c.1761T>G (p.Asp587Glu) n.2795T>G c.1974T>G (p.Asp658Glu) n.2789T>G | gnomAD v4 |
| X | g.53248224A>G | CA516428329 | IQSEC2 | c.2631T>C (p.Asp877=) c.424T>C c.2472T>C (p.Asp824=) n.223T>C c.2442T>C (p.Asp814=) c.1857T>C (p.Asp619=) c.2568T>C (p.Asp856=) c.1794T>C (p.Asp598=) c.1761T>C (p.Asp587=) n.2795T>C c.1974T>C (p.Asp658=) n.2789T>C | |
| X | g.53248224A>T | CA413157454 | IQSEC2 | c.2631T>A (p.Asp877Glu) c.424T>A c.2472T>A (p.Asp824Glu) n.223T>A c.2442T>A (p.Asp814Glu) c.1857T>A (p.Asp619Glu) c.2568T>A (p.Asp856Glu) c.1794T>A (p.Asp598Glu) c.1761T>A (p.Asp587Glu) n.2795T>A c.1974T>A (p.Asp658Glu) n.2789T>A | |
| X | g.53248225T>A | CA413157456 | IQSEC2 | c.2630A>T (p.Asp877Val) c.423A>T c.2471A>T (p.Asp824Val) n.222A>T c.2441A>T (p.Asp814Val) c.1856A>T (p.Asp619Val) c.2567A>T (p.Asp856Val) c.1793A>T (p.Asp598Val) c.1760A>T (p.Asp587Val) n.2794A>T c.1973A>T (p.Asp658Val) n.2788A>T | |
| X | g.53248225T>C | CA413157458 | IQSEC2 | c.2630A>G (p.Asp877Gly) c.423A>G c.2471A>G (p.Asp824Gly) n.222A>G c.2441A>G (p.Asp814Gly) c.1856A>G (p.Asp619Gly) c.2567A>G (p.Asp856Gly) c.1793A>G (p.Asp598Gly) c.1760A>G (p.Asp587Gly) n.2794A>G c.1973A>G (p.Asp658Gly) n.2788A>G | |
| X | g.53248225T>G | CA413157460 | IQSEC2 | c.2630A>C (p.Asp877Ala) c.423A>C c.2471A>C (p.Asp824Ala) n.222A>C c.2441A>C (p.Asp814Ala) c.1856A>C (p.Asp619Ala) c.2567A>C (p.Asp856Ala) c.1793A>C (p.Asp598Ala) c.1760A>C (p.Asp587Ala) n.2794A>C c.1973A>C (p.Asp658Ala) n.2788A>C | |
| X | g.53248226C>A | CA413157463 | IQSEC2 | c.2629G>T (p.Asp877Tyr) c.422G>T c.2470G>T (p.Asp824Tyr) n.221G>T c.2440G>T (p.Asp814Tyr) c.1855G>T (p.Asp619Tyr) c.2566G>T (p.Asp856Tyr) c.1792G>T (p.Asp598Tyr) c.1759G>T (p.Asp587Tyr) n.2793G>T c.1972G>T (p.Asp658Tyr) n.2787G>T | |
| X | g.53248226C>G | CA413157465 | IQSEC2 | c.2629G>C (p.Asp877His) c.422G>C c.2470G>C (p.Asp824His) n.221G>C c.2440G>C (p.Asp814His) c.1855G>C (p.Asp619His) c.2566G>C (p.Asp856His) c.1792G>C (p.Asp598His) c.1759G>C (p.Asp587His) n.2793G>C c.1972G>C (p.Asp658His) n.2787G>C | |
| X | g.53248226C>T | CA413157467 | IQSEC2 | c.2629G>A (p.Asp877Asn) c.422G>A c.2470G>A (p.Asp824Asn) n.221G>A c.2440G>A (p.Asp814Asn) c.1855G>A (p.Asp619Asn) c.2566G>A (p.Asp856Asn) c.1792G>A (p.Asp598Asn) c.1759G>A (p.Asp587Asn) n.2793G>A c.1972G>A (p.Asp658Asn) n.2787G>A | |
| X | g.53248227C>A | CA516428337 | IQSEC2 | c.2628G>T (p.Val876=) c.421G>T c.2469G>T (p.Val823=) n.220G>T c.2439G>T (p.Val813=) c.1854G>T (p.Val618=) c.2565G>T (p.Val855=) c.1791G>T (p.Val597=) c.1758G>T (p.Val586=) n.2792G>T c.1971G>T (p.Val657=) n.2786G>T | |
| X | g.53248227C= | CA2429774935 | IQSEC2 | c.2628G= (p.Val876=) c.421G= c.2469G= (p.Val823=) n.220G= c.2439G= (p.Val813=) c.1854G= (p.Val618=) c.2565G= (p.Val855=) c.1791G= (p.Val597=) c.1758G= (p.Val586=) n.2792G= c.1971G= (p.Val657=) n.2786G= | |
| X | g.53248227C>G | CA516428341 | IQSEC2 | c.2628G>C (p.Val876=) c.421G>C c.2469G>C (p.Val823=) n.220G>C c.2439G>C (p.Val813=) c.1854G>C (p.Val618=) c.2565G>C (p.Val855=) c.1791G>C (p.Val597=) c.1758G>C (p.Val586=) n.2792G>C c.1971G>C (p.Val657=) n.2786G>C | |
| X | g.53248227C>T | CA516428344 | IQSEC2 | c.2628G>A (p.Val876=) c.421G>A c.2469G>A (p.Val823=) n.220G>A c.2439G>A (p.Val813=) c.1854G>A (p.Val618=) c.2565G>A (p.Val855=) c.1791G>A (p.Val597=) c.1758G>A (p.Val586=) n.2792G>A c.1971G>A (p.Val657=) n.2786G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.53248228A>C | CA413157475 | IQSEC2 | c.2627T>G (p.Val876Gly) c.420T>G c.2468T>G (p.Val823Gly) n.219T>G c.2438T>G (p.Val813Gly) c.1853T>G (p.Val618Gly) c.2564T>G (p.Val855Gly) c.1790T>G (p.Val597Gly) c.1757T>G (p.Val586Gly) n.2791T>G c.1970T>G (p.Val657Gly) n.2785T>G | |
| X | g.53248228A>G | CA413157470 | IQSEC2 | c.2627T>C (p.Val876Ala) c.420T>C c.2468T>C (p.Val823Ala) n.219T>C c.2438T>C (p.Val813Ala) c.1853T>C (p.Val618Ala) c.2564T>C (p.Val855Ala) c.1790T>C (p.Val597Ala) c.1757T>C (p.Val586Ala) n.2791T>C c.1970T>C (p.Val657Ala) n.2785T>C | |
| X | g.53248228A>T | CA413157472 | IQSEC2 | c.2627T>A (p.Val876Glu) c.420T>A c.2468T>A (p.Val823Glu) n.219T>A c.2438T>A (p.Val813Glu) c.1853T>A (p.Val618Glu) c.2564T>A (p.Val855Glu) c.1790T>A (p.Val597Glu) c.1757T>A (p.Val586Glu) n.2791T>A c.1970T>A (p.Val657Glu) n.2785T>A | |
| X | g.53248229C>A | CA413157478 | IQSEC2 | c.2626G>T (p.Val876Leu) c.419G>T c.2467G>T (p.Val823Leu) n.218G>T c.2437G>T (p.Val813Leu) c.1852G>T (p.Val618Leu) c.2563G>T (p.Val855Leu) c.1789G>T (p.Val597Leu) c.1756G>T (p.Val586Leu) n.2790G>T c.1969G>T (p.Val657Leu) n.2784G>T | |
| X | g.53248229C>G | CA413157480 | IQSEC2 | c.2626G>C (p.Val876Leu) c.419G>C c.2467G>C (p.Val823Leu) n.218G>C c.2437G>C (p.Val813Leu) c.1852G>C (p.Val618Leu) c.2563G>C (p.Val855Leu) c.1789G>C (p.Val597Leu) c.1756G>C (p.Val586Leu) n.2790G>C c.1969G>C (p.Val657Leu) n.2784G>C | ClinVar |
| X | g.53248229C>T | CA413157481 | IQSEC2 | c.2626G>A (p.Val876Met) c.419G>A c.2467G>A (p.Val823Met) n.218G>A c.2437G>A (p.Val813Met) c.1852G>A (p.Val618Met) c.2563G>A (p.Val855Met) c.1789G>A (p.Val597Met) c.1756G>A (p.Val586Met) n.2790G>A c.1969G>A (p.Val657Met) n.2784G>A | |
| X | g.53248230C>A | CA516428351 | IQSEC2 | c.2625G>T (p.Val875=) c.418G>T c.2466G>T (p.Val822=) n.217G>T c.2436G>T (p.Val812=) c.1851G>T (p.Val617=) c.2562G>T (p.Val854=) c.1788G>T (p.Val596=) c.1755G>T (p.Val585=) n.2789G>T c.1968G>T (p.Val656=) n.2783G>T | |
| X | g.53248230C>G | CA516428353 | IQSEC2 | c.2625G>C (p.Val875=) c.418G>C c.2466G>C (p.Val822=) n.217G>C c.2436G>C (p.Val812=) c.1851G>C (p.Val617=) c.2562G>C (p.Val854=) c.1788G>C (p.Val596=) c.1755G>C (p.Val585=) n.2789G>C c.1968G>C (p.Val656=) n.2783G>C | |
| X | g.53248230C>T | CA516428354 | IQSEC2 | c.2625G>A (p.Val875=) c.418G>A c.2466G>A (p.Val822=) n.217G>A c.2436G>A (p.Val812=) c.1851G>A (p.Val617=) c.2562G>A (p.Val854=) c.1788G>A (p.Val596=) c.1755G>A (p.Val585=) n.2789G>A c.1968G>A (p.Val656=) n.2783G>A | |
| X | g.53248231A>C | CA413157485 | IQSEC2 | c.2624T>G (p.Val875Gly) c.417T>G c.2465T>G (p.Val822Gly) n.216T>G c.2435T>G (p.Val812Gly) c.1850T>G (p.Val617Gly) c.2561T>G (p.Val854Gly) c.1787T>G (p.Val596Gly) c.1754T>G (p.Val585Gly) n.2788T>G c.1967T>G (p.Val656Gly) n.2782T>G | |
| X | g.53248231A>G | CA413157486 | IQSEC2 | c.2624T>C (p.Val875Ala) c.417T>C c.2465T>C (p.Val822Ala) n.216T>C c.2435T>C (p.Val812Ala) c.1850T>C (p.Val617Ala) c.2561T>C (p.Val854Ala) c.1787T>C (p.Val596Ala) c.1754T>C (p.Val585Ala) n.2788T>C c.1967T>C (p.Val656Ala) n.2782T>C | |
| X | g.53248231A>T | CA413157488 | IQSEC2 | c.2624T>A (p.Val875Glu) c.417T>A c.2465T>A (p.Val822Glu) n.216T>A c.2435T>A (p.Val812Glu) c.1850T>A (p.Val617Glu) c.2561T>A (p.Val854Glu) c.1787T>A (p.Val596Glu) c.1754T>A (p.Val585Glu) n.2788T>A c.1967T>A (p.Val656Glu) n.2782T>A | |
| X | g.53248232C>A | CA413157492 | IQSEC2 | c.2623G>T (p.Val875Leu) c.416G>T c.2464G>T (p.Val822Leu) n.215G>T c.2434G>T (p.Val812Leu) c.1849G>T (p.Val617Leu) c.2560G>T (p.Val854Leu) c.1786G>T (p.Val596Leu) c.1753G>T (p.Val585Leu) n.2787G>T c.1966G>T (p.Val656Leu) n.2781G>T | |
| X | g.53248232C>G | CA413157494 | IQSEC2 | c.2623G>C (p.Val875Leu) c.416G>C c.2464G>C (p.Val822Leu) n.215G>C c.2434G>C (p.Val812Leu) c.1849G>C (p.Val617Leu) c.2560G>C (p.Val854Leu) c.1786G>C (p.Val596Leu) c.1753G>C (p.Val585Leu) n.2787G>C c.1966G>C (p.Val656Leu) n.2781G>C | |
| X | g.53248232C>T | CA413157496 | IQSEC2 | c.2623G>A (p.Val875Met) c.416G>A c.2464G>A (p.Val822Met) n.215G>A c.2434G>A (p.Val812Met) c.1849G>A (p.Val617Met) c.2560G>A (p.Val854Met) c.1786G>A (p.Val596Met) c.1753G>A (p.Val585Met) n.2787G>A c.1966G>A (p.Val656Met) n.2781G>A | |
| X | g.53248233A>C | CA413157499 | IQSEC2 | c.2622T>G (p.Cys874Trp) c.415T>G c.2463T>G (p.Cys821Trp) n.214T>G c.2433T>G (p.Cys811Trp) c.1848T>G (p.Cys616Trp) c.2559T>G (p.Cys853Trp) c.1785T>G (p.Cys595Trp) c.1752T>G (p.Cys584Trp) n.2786T>G c.1965T>G (p.Cys655Trp) n.2780T>G | |
| X | g.53248233A>G | CA516428366 | IQSEC2 | c.2622T>C (p.Cys874=) c.415T>C c.2463T>C (p.Cys821=) n.214T>C c.2433T>C (p.Cys811=) c.1848T>C (p.Cys616=) c.2559T>C (p.Cys853=) c.1785T>C (p.Cys595=) c.1752T>C (p.Cys584=) n.2786T>C c.1965T>C (p.Cys655=) n.2780T>C | |
| X | g.53248233A>T | CA413157501 | IQSEC2 | c.2622T>A (p.Cys874Ter) c.415T>A c.2463T>A (p.Cys821Ter) n.214T>A c.2433T>A (p.Cys811Ter) c.1848T>A (p.Cys616Ter) c.2559T>A (p.Cys853Ter) c.1785T>A (p.Cys595Ter) c.1752T>A (p.Cys584Ter) n.2786T>A c.1965T>A (p.Cys655Ter) n.2780T>A | |
| X | g.53248234C>A | CA413157505 | IQSEC2 | c.2621G>T (p.Cys874Phe) c.414G>T c.2462G>T (p.Cys821Phe) n.213G>T c.2432G>T (p.Cys811Phe) c.1847G>T (p.Cys616Phe) c.2558G>T (p.Cys853Phe) c.1784G>T (p.Cys595Phe) c.1751G>T (p.Cys584Phe) n.2785G>T c.1964G>T (p.Cys655Phe) n.2779G>T | |
| X | g.53248234C>G | CA413157509 | IQSEC2 | c.2621G>C (p.Cys874Ser) c.414G>C c.2462G>C (p.Cys821Ser) n.213G>C c.2432G>C (p.Cys811Ser) c.1847G>C (p.Cys616Ser) c.2558G>C (p.Cys853Ser) c.1784G>C (p.Cys595Ser) c.1751G>C (p.Cys584Ser) n.2785G>C c.1964G>C (p.Cys655Ser) n.2779G>C | |
| X | g.53248234C>T | CA413157504 | IQSEC2 | c.2621G>A (p.Cys874Tyr) c.414G>A c.2462G>A (p.Cys821Tyr) n.213G>A c.2432G>A (p.Cys811Tyr) c.1847G>A (p.Cys616Tyr) c.2558G>A (p.Cys853Tyr) c.1784G>A (p.Cys595Tyr) c.1751G>A (p.Cys584Tyr) n.2785G>A c.1964G>A (p.Cys655Tyr) n.2779G>A |