| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53248163G>A | CA413157026 | IQSEC2 | c.2692C>T (p.Arg898Trp) c.485C>T c.2533C>T (p.Arg845Trp) n.284C>T c.2503C>T (p.Arg835Trp) c.1918C>T (p.Arg640Trp) c.2629C>T (p.Arg877Trp) c.1855C>T (p.Arg619Trp) c.1822C>T (p.Arg608Trp) n.2856C>T c.2035C>T (p.Arg679Trp) n.2850C>T | ClinVar |
| X | g.53248163G>C | CA413157028 | IQSEC2 | c.2692C>G (p.Arg898Gly) c.485C>G c.2533C>G (p.Arg845Gly) n.284C>G c.2503C>G (p.Arg835Gly) c.1918C>G (p.Arg640Gly) c.2629C>G (p.Arg877Gly) c.1855C>G (p.Arg619Gly) c.1822C>G (p.Arg608Gly) n.2856C>G c.2035C>G (p.Arg679Gly) n.2850C>G | |
| X | g.53248163G>T | CA516428165 | IQSEC2 | c.2692C>A (p.Arg898=) c.485C>A c.2533C>A (p.Arg845=) n.284C>A c.2503C>A (p.Arg835=) c.1918C>A (p.Arg640=) c.2629C>A (p.Arg877=) c.1855C>A (p.Arg619=) c.1822C>A (p.Arg608=) n.2856C>A c.2035C>A (p.Arg679=) n.2850C>A | |
| X | g.53248164G>A | CA516428168 | IQSEC2 | c.2691C>T (p.Ile897=) c.484C>T c.2532C>T (p.Ile844=) n.283C>T c.2502C>T (p.Ile834=) c.1917C>T (p.Ile639=) c.2628C>T (p.Ile876=) c.1854C>T (p.Ile618=) c.1821C>T (p.Ile607=) n.2855C>T c.2034C>T (p.Ile678=) n.2849C>T | |
| X | g.53248164G>C | CA413157032 | IQSEC2 | c.2691C>G (p.Ile897Met) c.484C>G c.2532C>G (p.Ile844Met) n.283C>G c.2502C>G (p.Ile834Met) c.1917C>G (p.Ile639Met) c.2628C>G (p.Ile876Met) c.1854C>G (p.Ile618Met) c.1821C>G (p.Ile607Met) n.2855C>G c.2034C>G (p.Ile678Met) n.2849C>G | |
| X | g.53248164G>T | CA516428169 | IQSEC2 | c.2691C>A (p.Ile897=) c.484C>A c.2532C>A (p.Ile844=) n.283C>A c.2502C>A (p.Ile834=) c.1917C>A (p.Ile639=) c.2628C>A (p.Ile876=) c.1854C>A (p.Ile618=) c.1821C>A (p.Ile607=) n.2855C>A c.2034C>A (p.Ile678=) n.2849C>A | |
| X | g.53248165A>C | CA413157036 | IQSEC2 | c.2690T>G (p.Ile897Ser) c.483T>G c.2531T>G (p.Ile844Ser) n.282T>G c.2501T>G (p.Ile834Ser) c.1916T>G (p.Ile639Ser) c.2627T>G (p.Ile876Ser) c.1853T>G (p.Ile618Ser) c.1820T>G (p.Ile607Ser) n.2854T>G c.2033T>G (p.Ile678Ser) n.2848T>G | |
| X | g.53248165A>G | CA413157037 | IQSEC2 | c.2690T>C (p.Ile897Thr) c.483T>C c.2531T>C (p.Ile844Thr) n.282T>C c.2501T>C (p.Ile834Thr) c.1916T>C (p.Ile639Thr) c.2627T>C (p.Ile876Thr) c.1853T>C (p.Ile618Thr) c.1820T>C (p.Ile607Thr) n.2854T>C c.2033T>C (p.Ile678Thr) n.2848T>C | |
| X | g.53248165A>T | CA413157039 | IQSEC2 | c.2690T>A (p.Ile897Asn) c.483T>A c.2531T>A (p.Ile844Asn) n.282T>A c.2501T>A (p.Ile834Asn) c.1916T>A (p.Ile639Asn) c.2627T>A (p.Ile876Asn) c.1853T>A (p.Ile618Asn) c.1820T>A (p.Ile607Asn) n.2854T>A c.2033T>A (p.Ile678Asn) n.2848T>A | ClinVar |
| X | g.53248166T>A | CA413157042 | IQSEC2 | c.2689A>T (p.Ile897Phe) c.482A>T c.2530A>T (p.Ile844Phe) n.281A>T c.2500A>T (p.Ile834Phe) c.1915A>T (p.Ile639Phe) c.2626A>T (p.Ile876Phe) c.1852A>T (p.Ile618Phe) c.1819A>T (p.Ile607Phe) n.2853A>T c.2032A>T (p.Ile678Phe) n.2847A>T | |
| X | g.53248166T>C | CA413157044 | IQSEC2 | c.2689A>G (p.Ile897Val) c.482A>G c.2530A>G (p.Ile844Val) n.281A>G c.2500A>G (p.Ile834Val) c.1915A>G (p.Ile639Val) c.2626A>G (p.Ile876Val) c.1852A>G (p.Ile618Val) c.1819A>G (p.Ile607Val) n.2853A>G c.2032A>G (p.Ile678Val) n.2847A>G | |
| X | g.53248166T>G | CA413157047 | IQSEC2 | c.2689A>C (p.Ile897Leu) c.482A>C c.2530A>C (p.Ile844Leu) n.281A>C c.2500A>C (p.Ile834Leu) c.1915A>C (p.Ile639Leu) c.2626A>C (p.Ile876Leu) c.1852A>C (p.Ile618Leu) c.1819A>C (p.Ile607Leu) n.2853A>C c.2032A>C (p.Ile678Leu) n.2847A>C | |
| X | g.53248167A>C | CA413157049 | IQSEC2 | c.2688T>G (p.His896Gln) c.481T>G c.2529T>G (p.His843Gln) n.280T>G c.2499T>G (p.His833Gln) c.1914T>G (p.His638Gln) c.2625T>G (p.His875Gln) c.1851T>G (p.His617Gln) c.1818T>G (p.His606Gln) n.2852T>G c.2031T>G (p.His677Gln) n.2846T>G | |
| X | g.53248167A>G | CA516428175 | IQSEC2 | c.2688T>C (p.His896=) c.481T>C c.2529T>C (p.His843=) n.280T>C c.2499T>C (p.His833=) c.1914T>C (p.His638=) c.2625T>C (p.His875=) c.1851T>C (p.His617=) c.1818T>C (p.His606=) n.2852T>C c.2031T>C (p.His677=) n.2846T>C | ClinVar dbSNP |
| X | g.53248167A>T | CA413157050 | IQSEC2 | c.2688T>A (p.His896Gln) c.481T>A c.2529T>A (p.His843Gln) n.280T>A c.2499T>A (p.His833Gln) c.1914T>A (p.His638Gln) c.2625T>A (p.His875Gln) c.1851T>A (p.His617Gln) c.1818T>A (p.His606Gln) n.2852T>A c.2031T>A (p.His677Gln) n.2846T>A | |
| X | g.53248168T>A | CA413157056 | IQSEC2 | c.2687A>T (p.His896Leu) c.480A>T c.2528A>T (p.His843Leu) n.279A>T c.2498A>T (p.His833Leu) c.1913A>T (p.His638Leu) c.2624A>T (p.His875Leu) c.1850A>T (p.His617Leu) c.1817A>T (p.His606Leu) n.2851A>T c.2030A>T (p.His677Leu) n.2845A>T | |
| X | g.53248168T>C | CA413157057 | IQSEC2 | c.2687A>G (p.His896Arg) c.480A>G c.2528A>G (p.His843Arg) n.279A>G c.2498A>G (p.His833Arg) c.1913A>G (p.His638Arg) c.2624A>G (p.His875Arg) c.1850A>G (p.His617Arg) c.1817A>G (p.His606Arg) n.2851A>G c.2030A>G (p.His677Arg) n.2845A>G | |
| X | g.53248168T>G | CA413157059 | IQSEC2 | c.2687A>C (p.His896Pro) c.480A>C c.2528A>C (p.His843Pro) n.279A>C c.2498A>C (p.His833Pro) c.1913A>C (p.His638Pro) c.2624A>C (p.His875Pro) c.1850A>C (p.His617Pro) c.1817A>C (p.His606Pro) n.2851A>C c.2030A>C (p.His677Pro) n.2845A>C | |
| X | g.53248169G>A | CA413157066 | IQSEC2 | c.2686C>T (p.His896Tyr) c.479C>T c.2527C>T (p.His843Tyr) n.278C>T c.2497C>T (p.His833Tyr) c.1912C>T (p.His638Tyr) c.2623C>T (p.His875Tyr) c.1849C>T (p.His617Tyr) c.1816C>T (p.His606Tyr) n.2850C>T c.2029C>T (p.His677Tyr) n.2844C>T | gnomAD v4 |
| X | g.53248169G>C | CA413157068 | IQSEC2 | c.2686C>G (p.His896Asp) c.479C>G c.2527C>G (p.His843Asp) n.278C>G c.2497C>G (p.His833Asp) c.1912C>G (p.His638Asp) c.2623C>G (p.His875Asp) c.1849C>G (p.His617Asp) c.1816C>G (p.His606Asp) n.2850C>G c.2029C>G (p.His677Asp) n.2844C>G | |
| X | g.53248169G>T | CA413157064 | IQSEC2 | c.2686C>A (p.His896Asn) c.479C>A c.2527C>A (p.His843Asn) n.278C>A c.2497C>A (p.His833Asn) c.1912C>A (p.His638Asn) c.2623C>A (p.His875Asn) c.1849C>A (p.His617Asn) c.1816C>A (p.His606Asn) n.2850C>A c.2029C>A (p.His677Asn) n.2844C>A | |
| X | g.53248170G>A | CA516428179 | IQSEC2 | c.2685C>T (p.Ser895=) c.478C>T c.2526C>T (p.Ser842=) n.277C>T c.2496C>T (p.Ser832=) c.1911C>T (p.Ser637=) c.2622C>T (p.Ser874=) c.1848C>T (p.Ser616=) c.1815C>T (p.Ser605=) n.2849C>T c.2028C>T (p.Ser676=) n.2843C>T | |
| X | g.53248170G>C | CA516428183 | IQSEC2 | c.2685C>G (p.Ser895=) c.478C>G c.2526C>G (p.Ser842=) n.277C>G c.2496C>G (p.Ser832=) c.1911C>G (p.Ser637=) c.2622C>G (p.Ser874=) c.1848C>G (p.Ser616=) c.1815C>G (p.Ser605=) n.2849C>G c.2028C>G (p.Ser676=) n.2843C>G | |
| X | g.53248170G>T | CA516428187 | IQSEC2 | c.2685C>A (p.Ser895=) c.478C>A c.2526C>A (p.Ser842=) n.277C>A c.2496C>A (p.Ser832=) c.1911C>A (p.Ser637=) c.2622C>A (p.Ser874=) c.1848C>A (p.Ser616=) c.1815C>A (p.Ser605=) n.2849C>A c.2028C>A (p.Ser676=) n.2843C>A | |
| X | g.53248171G>A | CA413157073 | IQSEC2 | c.2684C>T (p.Ser895Phe) c.477C>T c.2525C>T (p.Ser842Phe) n.276C>T c.2495C>T (p.Ser832Phe) c.1910C>T (p.Ser637Phe) c.2621C>T (p.Ser874Phe) c.1847C>T (p.Ser616Phe) c.1814C>T (p.Ser605Phe) n.2848C>T c.2027C>T (p.Ser676Phe) n.2842C>T | |
| X | g.53248171G>C | CA413157074 | IQSEC2 | c.2684C>G (p.Ser895Cys) c.477C>G c.2525C>G (p.Ser842Cys) n.276C>G c.2495C>G (p.Ser832Cys) c.1910C>G (p.Ser637Cys) c.2621C>G (p.Ser874Cys) c.1847C>G (p.Ser616Cys) c.1814C>G (p.Ser605Cys) n.2848C>G c.2027C>G (p.Ser676Cys) n.2842C>G | ClinVar dbSNP |
| X | g.53248171G= | CA2429774924 | IQSEC2 | c.2684C= (p.Ser895=) c.477C= c.2525C= (p.Ser842=) n.276C= c.2495C= (p.Ser832=) c.1910C= (p.Ser637=) c.2621C= (p.Ser874=) c.1847C= (p.Ser616=) c.1814C= (p.Ser605=) n.2848C= c.2027C= (p.Ser676=) n.2842C= | |
| X | g.53248171G>T | CA413157075 | IQSEC2 | c.2684C>A (p.Ser895Tyr) c.477C>A c.2525C>A (p.Ser842Tyr) n.276C>A c.2495C>A (p.Ser832Tyr) c.1910C>A (p.Ser637Tyr) c.2621C>A (p.Ser874Tyr) c.1847C>A (p.Ser616Tyr) c.1814C>A (p.Ser605Tyr) n.2848C>A c.2027C>A (p.Ser676Tyr) n.2842C>A | |
| X | g.53248172A>C | CA413157077 | IQSEC2 | c.2683T>G (p.Ser895Ala) c.476T>G c.2524T>G (p.Ser842Ala) n.275T>G c.2494T>G (p.Ser832Ala) c.1909T>G (p.Ser637Ala) c.2620T>G (p.Ser874Ala) c.1846T>G (p.Ser616Ala) c.1813T>G (p.Ser605Ala) n.2847T>G c.2026T>G (p.Ser676Ala) n.2841T>G | |
| X | g.53248172A>G | CA413157080 | IQSEC2 | c.2683T>C (p.Ser895Pro) c.476T>C c.2524T>C (p.Ser842Pro) n.275T>C c.2494T>C (p.Ser832Pro) c.1909T>C (p.Ser637Pro) c.2620T>C (p.Ser874Pro) c.1846T>C (p.Ser616Pro) c.1813T>C (p.Ser605Pro) n.2847T>C c.2026T>C (p.Ser676Pro) n.2841T>C | |
| X | g.53248172A>T | CA413157082 | IQSEC2 | c.2683T>A (p.Ser895Thr) c.476T>A c.2524T>A (p.Ser842Thr) n.275T>A c.2494T>A (p.Ser832Thr) c.1909T>A (p.Ser637Thr) c.2620T>A (p.Ser874Thr) c.1846T>A (p.Ser616Thr) c.1813T>A (p.Ser605Thr) n.2847T>A c.2026T>A (p.Ser676Thr) n.2841T>A | |
| X | g.53248173C>A | CA413157086 | IQSEC2 | c.2682G>T (p.Gln894His) c.475G>T c.2523G>T (p.Gln841His) n.274G>T c.2493G>T (p.Gln831His) c.1908G>T (p.Gln636His) c.2619G>T (p.Gln873His) c.1845G>T (p.Gln615His) c.1812G>T (p.Gln604His) n.2846G>T c.2025G>T (p.Gln675His) n.2840G>T | |
| X | g.53248173C>G | CA413157087 | IQSEC2 | c.2682G>C (p.Gln894His) c.475G>C c.2523G>C (p.Gln841His) n.274G>C c.2493G>C (p.Gln831His) c.1908G>C (p.Gln636His) c.2619G>C (p.Gln873His) c.1845G>C (p.Gln615His) c.1812G>C (p.Gln604His) n.2846G>C c.2025G>C (p.Gln675His) n.2840G>C | |
| X | g.53248173C>T | CA516428197 | IQSEC2 | c.2682G>A (p.Gln894=) c.475G>A c.2523G>A (p.Gln841=) n.274G>A c.2493G>A (p.Gln831=) c.1908G>A (p.Gln636=) c.2619G>A (p.Gln873=) c.1845G>A (p.Gln615=) c.1812G>A (p.Gln604=) n.2846G>A c.2025G>A (p.Gln675=) n.2840G>A | |
| X | g.53248174T>A | CA413157089 | IQSEC2 | c.2681A>T (p.Gln894Leu) c.474A>T c.2522A>T (p.Gln841Leu) n.273A>T c.2492A>T (p.Gln831Leu) c.1907A>T (p.Gln636Leu) c.2618A>T (p.Gln873Leu) c.1844A>T (p.Gln615Leu) c.1811A>T (p.Gln604Leu) n.2845A>T c.2024A>T (p.Gln675Leu) n.2839A>T | |
| X | g.53248174T>C | CA413157092 | IQSEC2 | c.2681A>G (p.Gln894Arg) c.474A>G c.2522A>G (p.Gln841Arg) n.273A>G c.2492A>G (p.Gln831Arg) c.1907A>G (p.Gln636Arg) c.2618A>G (p.Gln873Arg) c.1844A>G (p.Gln615Arg) c.1811A>G (p.Gln604Arg) n.2845A>G c.2024A>G (p.Gln675Arg) n.2839A>G | |
| X | g.53248174T>G | CA413157095 | IQSEC2 | c.2681A>C (p.Gln894Pro) c.474A>C c.2522A>C (p.Gln841Pro) n.273A>C c.2492A>C (p.Gln831Pro) c.1907A>C (p.Gln636Pro) c.2618A>C (p.Gln873Pro) c.1844A>C (p.Gln615Pro) c.1811A>C (p.Gln604Pro) n.2845A>C c.2024A>C (p.Gln675Pro) n.2839A>C | |
| X | g.53248175G>A | CA413157102 | IQSEC2 | c.2680C>T (p.Gln894Ter) c.473C>T c.2521C>T (p.Gln841Ter) n.272C>T c.2491C>T (p.Gln831Ter) c.1906C>T (p.Gln636Ter) c.2617C>T (p.Gln873Ter) c.1843C>T (p.Gln615Ter) c.1810C>T (p.Gln604Ter) n.2844C>T c.2023C>T (p.Gln675Ter) n.2838C>T | |
| X | g.53248175G>C | CA413157105 | IQSEC2 | c.2680C>G (p.Gln894Glu) c.473C>G c.2521C>G (p.Gln841Glu) n.272C>G c.2491C>G (p.Gln831Glu) c.1906C>G (p.Gln636Glu) c.2617C>G (p.Gln873Glu) c.1843C>G (p.Gln615Glu) c.1810C>G (p.Gln604Glu) n.2844C>G c.2023C>G (p.Gln675Glu) n.2838C>G | |
| X | g.53248175G>T | CA413157099 | IQSEC2 | c.2680C>A (p.Gln894Lys) c.473C>A c.2521C>A (p.Gln841Lys) n.272C>A c.2491C>A (p.Gln831Lys) c.1906C>A (p.Gln636Lys) c.2617C>A (p.Gln873Lys) c.1843C>A (p.Gln615Lys) c.1810C>A (p.Gln604Lys) n.2844C>A c.2023C>A (p.Gln675Lys) n.2838C>A | |
| X | g.53248176G>A | CA516428206 | IQSEC2 | c.2679C>T (p.Phe893=) c.472C>T c.2520C>T (p.Phe840=) n.271C>T c.2490C>T (p.Phe830=) c.1905C>T (p.Phe635=) c.2616C>T (p.Phe872=) c.1842C>T (p.Phe614=) c.1809C>T (p.Phe603=) n.2843C>T c.2022C>T (p.Phe674=) n.2837C>T | COSMIC COSMIC COSMIC |
| X | g.53248176G>C | CA413157107 | IQSEC2 | c.2679C>G (p.Phe893Leu) c.472C>G c.2520C>G (p.Phe840Leu) n.271C>G c.2490C>G (p.Phe830Leu) c.1905C>G (p.Phe635Leu) c.2616C>G (p.Phe872Leu) c.1842C>G (p.Phe614Leu) c.1809C>G (p.Phe603Leu) n.2843C>G c.2022C>G (p.Phe674Leu) n.2837C>G | |
| X | g.53248176G>T | CA413157109 | IQSEC2 | c.2679C>A (p.Phe893Leu) c.472C>A c.2520C>A (p.Phe840Leu) n.271C>A c.2490C>A (p.Phe830Leu) c.1905C>A (p.Phe635Leu) c.2616C>A (p.Phe872Leu) c.1842C>A (p.Phe614Leu) c.1809C>A (p.Phe603Leu) n.2843C>A c.2022C>A (p.Phe674Leu) n.2837C>A | |
| X | g.53248177A= | CA2429774925 | IQSEC2 | c.2678T= (p.Phe893=) c.471T= c.2519T= (p.Phe840=) n.270T= c.2489T= (p.Phe830=) c.1904T= (p.Phe635=) c.2615T= (p.Phe872=) c.1841T= (p.Phe614=) c.1808T= (p.Phe603=) n.2842T= c.2021T= (p.Phe674=) n.2836T= | |
| X | g.53248177A>C | CA413157111 | IQSEC2 | c.2678T>G (p.Phe893Cys) c.471T>G c.2519T>G (p.Phe840Cys) n.270T>G c.2489T>G (p.Phe830Cys) c.1904T>G (p.Phe635Cys) c.2615T>G (p.Phe872Cys) c.1841T>G (p.Phe614Cys) c.1808T>G (p.Phe603Cys) n.2842T>G c.2021T>G (p.Phe674Cys) n.2836T>G | |
| X | g.53248177A>G | CA413157113 | IQSEC2 | c.2678T>C (p.Phe893Ser) c.471T>C c.2519T>C (p.Phe840Ser) n.270T>C c.2489T>C (p.Phe830Ser) c.1904T>C (p.Phe635Ser) c.2615T>C (p.Phe872Ser) c.1841T>C (p.Phe614Ser) c.1808T>C (p.Phe603Ser) n.2842T>C c.2021T>C (p.Phe674Ser) n.2836T>C | ClinVar dbSNP |
| X | g.53248177A>T | CA413157115 | IQSEC2 | c.2678T>A (p.Phe893Tyr) c.471T>A c.2519T>A (p.Phe840Tyr) n.270T>A c.2489T>A (p.Phe830Tyr) c.1904T>A (p.Phe635Tyr) c.2615T>A (p.Phe872Tyr) c.1841T>A (p.Phe614Tyr) c.1808T>A (p.Phe603Tyr) n.2842T>A c.2021T>A (p.Phe674Tyr) n.2836T>A | |
| X | g.53248178A>C | CA413157123 | IQSEC2 | c.2677T>G (p.Phe893Val) c.470T>G c.2518T>G (p.Phe840Val) n.269T>G c.2488T>G (p.Phe830Val) c.1903T>G (p.Phe635Val) c.2614T>G (p.Phe872Val) c.1840T>G (p.Phe614Val) c.1807T>G (p.Phe603Val) n.2841T>G c.2020T>G (p.Phe674Val) n.2835T>G | |
| X | g.53248178A>G | CA413157117 | IQSEC2 | c.2677T>C (p.Phe893Leu) c.470T>C c.2518T>C (p.Phe840Leu) n.269T>C c.2488T>C (p.Phe830Leu) c.1903T>C (p.Phe635Leu) c.2614T>C (p.Phe872Leu) c.1840T>C (p.Phe614Leu) c.1807T>C (p.Phe603Leu) n.2841T>C c.2020T>C (p.Phe674Leu) n.2835T>C | |
| X | g.53248178A>T | CA413157119 | IQSEC2 | c.2677T>A (p.Phe893Ile) c.470T>A c.2518T>A (p.Phe840Ile) n.269T>A c.2488T>A (p.Phe830Ile) c.1903T>A (p.Phe635Ile) c.2614T>A (p.Phe872Ile) c.1840T>A (p.Phe614Ile) c.1807T>A (p.Phe603Ile) n.2841T>A c.2020T>A (p.Phe674Ile) n.2835T>A | |
| X | g.53248179C>A | CA413157125 | IQSEC2 | c.2676G>T (p.Lys892Asn) c.469G>T c.2517G>T (p.Lys839Asn) n.268G>T c.2487G>T (p.Lys829Asn) c.1902G>T (p.Lys634Asn) c.2613G>T (p.Lys871Asn) c.1839G>T (p.Lys613Asn) c.1806G>T (p.Lys602Asn) n.2840G>T c.2019G>T (p.Lys673Asn) n.2834G>T | |
| X | g.53248179C= | CA2429774926 | IQSEC2 | c.2676G= (p.Lys892=) c.469G= c.2517G= (p.Lys839=) n.268G= c.2487G= (p.Lys829=) c.1902G= (p.Lys634=) c.2613G= (p.Lys871=) c.1839G= (p.Lys613=) c.1806G= (p.Lys602=) n.2840G= c.2019G= (p.Lys673=) n.2834G= | |
| X | g.53248179C>G | CA413157127 | IQSEC2 | c.2676G>C (p.Lys892Asn) c.469G>C c.2517G>C (p.Lys839Asn) n.268G>C c.2487G>C (p.Lys829Asn) c.1902G>C (p.Lys634Asn) c.2613G>C (p.Lys871Asn) c.1839G>C (p.Lys613Asn) c.1806G>C (p.Lys602Asn) n.2840G>C c.2019G>C (p.Lys673Asn) n.2834G>C | gnomAD v4 |
| X | g.53248179C>T | CA10419926 | IQSEC2 | c.2676G>A (p.Lys892=) c.469G>A c.2517G>A (p.Lys839=) n.268G>A c.2487G>A (p.Lys829=) c.1902G>A (p.Lys634=) c.2613G>A (p.Lys871=) c.1839G>A (p.Lys613=) c.1806G>A (p.Lys602=) n.2840G>A c.2019G>A (p.Lys673=) n.2834G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53248180T>A | CA413157134 | IQSEC2 | c.2675A>T (p.Lys892Met) c.468A>T c.2516A>T (p.Lys839Met) n.267A>T c.2486A>T (p.Lys829Met) c.1901A>T (p.Lys634Met) c.2612A>T (p.Lys871Met) c.1838A>T (p.Lys613Met) c.1805A>T (p.Lys602Met) n.2839A>T c.2018A>T (p.Lys673Met) n.2833A>T | |
| X | g.53248180T>C | CA413157135 | IQSEC2 | c.2675A>G (p.Lys892Arg) c.468A>G c.2516A>G (p.Lys839Arg) n.267A>G c.2486A>G (p.Lys829Arg) c.1901A>G (p.Lys634Arg) c.2612A>G (p.Lys871Arg) c.1838A>G (p.Lys613Arg) c.1805A>G (p.Lys602Arg) n.2839A>G c.2018A>G (p.Lys673Arg) n.2833A>G | |
| X | g.53248180T>G | CA413157138 | IQSEC2 | c.2675A>C (p.Lys892Thr) c.468A>C c.2516A>C (p.Lys839Thr) n.267A>C c.2486A>C (p.Lys829Thr) c.1901A>C (p.Lys634Thr) c.2612A>C (p.Lys871Thr) c.1838A>C (p.Lys613Thr) c.1805A>C (p.Lys602Thr) n.2839A>C c.2018A>C (p.Lys673Thr) n.2833A>C | |
| X | g.53248181T>A | CA413157146 | IQSEC2 | c.2674A>T (p.Lys892Ter) c.467A>T c.2515A>T (p.Lys839Ter) n.266A>T c.2485A>T (p.Lys829Ter) c.1900A>T (p.Lys634Ter) c.2611A>T (p.Lys871Ter) c.1837A>T (p.Lys613Ter) c.1804A>T (p.Lys602Ter) n.2838A>T c.2017A>T (p.Lys673Ter) n.2832A>T | |
| X | g.53248181T>C | CA413157149 | IQSEC2 | c.2674A>G (p.Lys892Glu) c.467A>G c.2515A>G (p.Lys839Glu) n.266A>G c.2485A>G (p.Lys829Glu) c.1900A>G (p.Lys634Glu) c.2611A>G (p.Lys871Glu) c.1837A>G (p.Lys613Glu) c.1804A>G (p.Lys602Glu) n.2838A>G c.2017A>G (p.Lys673Glu) n.2832A>G | |
| X | g.53248181T>G | CA413157143 | IQSEC2 | c.2674A>C (p.Lys892Gln) c.467A>C c.2515A>C (p.Lys839Gln) n.266A>C c.2485A>C (p.Lys829Gln) c.1900A>C (p.Lys634Gln) c.2611A>C (p.Lys871Gln) c.1837A>C (p.Lys613Gln) c.1804A>C (p.Lys602Gln) n.2838A>C c.2017A>C (p.Lys673Gln) n.2832A>C | |
| X | g.53248182C>A | CA516428217 | IQSEC2 | c.2673G>T (p.Arg891=) c.466G>T c.2514G>T (p.Arg838=) n.265G>T c.2484G>T (p.Arg828=) c.1899G>T (p.Arg633=) c.2610G>T (p.Arg870=) c.1836G>T (p.Arg612=) c.1803G>T (p.Arg601=) n.2837G>T c.2016G>T (p.Arg672=) n.2831G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.53248182C= | CA2429774927 | IQSEC2 | c.2673G= (p.Arg891=) c.466G= c.2514G= (p.Arg838=) n.265G= c.2484G= (p.Arg828=) c.1899G= (p.Arg633=) c.2610G= (p.Arg870=) c.1836G= (p.Arg612=) c.1803G= (p.Arg601=) n.2837G= c.2016G= (p.Arg672=) n.2831G= | |
| X | g.53248182C>G | CA516428219 | IQSEC2 | c.2673G>C (p.Arg891=) c.466G>C c.2514G>C (p.Arg838=) n.265G>C c.2484G>C (p.Arg828=) c.1899G>C (p.Arg633=) c.2610G>C (p.Arg870=) c.1836G>C (p.Arg612=) c.1803G>C (p.Arg601=) n.2837G>C c.2016G>C (p.Arg672=) n.2831G>C | |
| X | g.53248182C>T | CA516428221 | IQSEC2 | c.2673G>A (p.Arg891=) c.466G>A c.2514G>A (p.Arg838=) n.265G>A c.2484G>A (p.Arg828=) c.1899G>A (p.Arg633=) c.2610G>A (p.Arg870=) c.1836G>A (p.Arg612=) c.1803G>A (p.Arg601=) n.2837G>A c.2016G>A (p.Arg672=) n.2831G>A | |
| X | g.53248183C>A | CA413157157 | IQSEC2 | c.2672G>T (p.Arg891Leu) c.465G>T c.2513G>T (p.Arg838Leu) n.264G>T c.2483G>T (p.Arg828Leu) c.1898G>T (p.Arg633Leu) c.2609G>T (p.Arg870Leu) c.1835G>T (p.Arg612Leu) c.1802G>T (p.Arg601Leu) n.2836G>T c.2015G>T (p.Arg672Leu) n.2830G>T | |
| X | g.53248183C= | CA2429774928 | IQSEC2 | c.2672G= (p.Arg891=) c.465G= c.2513G= (p.Arg838=) n.264G= c.2483G= (p.Arg828=) c.1898G= (p.Arg633=) c.2609G= (p.Arg870=) c.1835G= (p.Arg612=) c.1802G= (p.Arg601=) n.2836G= c.2015G= (p.Arg672=) n.2830G= | |
| X | g.53248183C>G | CA413157152 | IQSEC2 | c.2672G>C (p.Arg891Pro) c.465G>C c.2513G>C (p.Arg838Pro) n.264G>C c.2483G>C (p.Arg828Pro) c.1898G>C (p.Arg633Pro) c.2609G>C (p.Arg870Pro) c.1835G>C (p.Arg612Pro) c.1802G>C (p.Arg601Pro) n.2836G>C c.2015G>C (p.Arg672Pro) n.2830G>C | |
| X | g.53248183C>T | CA413157155 | IQSEC2 | c.2672G>A (p.Arg891Gln) c.465G>A c.2513G>A (p.Arg838Gln) n.264G>A c.2483G>A (p.Arg828Gln) c.1898G>A (p.Arg633Gln) c.2609G>A (p.Arg870Gln) c.1835G>A (p.Arg612Gln) c.1802G>A (p.Arg601Gln) n.2836G>A c.2015G>A (p.Arg672Gln) n.2830G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.53248184G>A | CA413157159 | IQSEC2 | c.2671C>T (p.Arg891Trp) c.464C>T c.2512C>T (p.Arg838Trp) n.263C>T c.2482C>T (p.Arg828Trp) c.1897C>T (p.Arg633Trp) c.2608C>T (p.Arg870Trp) c.1834C>T (p.Arg612Trp) c.1801C>T (p.Arg601Trp) n.2835C>T c.2014C>T (p.Arg672Trp) n.2829C>T | dbSNP gnomAD v4 |
| X | g.53248184G>C | CA413157162 | IQSEC2 | c.2671C>G (p.Arg891Gly) c.464C>G c.2512C>G (p.Arg838Gly) n.263C>G c.2482C>G (p.Arg828Gly) c.1897C>G (p.Arg633Gly) c.2608C>G (p.Arg870Gly) c.1834C>G (p.Arg612Gly) c.1801C>G (p.Arg601Gly) n.2835C>G c.2014C>G (p.Arg672Gly) n.2829C>G | |
| X | g.53248184G= | CA2429774929 | IQSEC2 | c.2671C= (p.Arg891=) c.464C= c.2512C= (p.Arg838=) n.263C= c.2482C= (p.Arg828=) c.1897C= (p.Arg633=) c.2608C= (p.Arg870=) c.1834C= (p.Arg612=) c.1801C= (p.Arg601=) n.2835C= c.2014C= (p.Arg672=) n.2829C= | |
| X | g.53248184G>T | CA516428222 | IQSEC2 | c.2671C>A (p.Arg891=) c.464C>A c.2512C>A (p.Arg838=) n.263C>A c.2482C>A (p.Arg828=) c.1897C>A (p.Arg633=) c.2608C>A (p.Arg870=) c.1834C>A (p.Arg612=) c.1801C>A (p.Arg601=) n.2835C>A c.2014C>A (p.Arg672=) n.2829C>A | |
| X | g.53248185G>A | CA516428224 | IQSEC2 | c.2670C>T (p.Leu890=) c.463C>T c.2511C>T (p.Leu837=) n.262C>T c.2481C>T (p.Leu827=) c.1896C>T (p.Leu632=) c.2607C>T (p.Leu869=) c.1833C>T (p.Leu611=) c.1800C>T (p.Leu600=) n.2834C>T c.2013C>T (p.Leu671=) n.2828C>T | |
| X | g.53248185G>C | CA516428225 | IQSEC2 | c.2670C>G (p.Leu890=) c.463C>G c.2511C>G (p.Leu837=) n.262C>G c.2481C>G (p.Leu827=) c.1896C>G (p.Leu632=) c.2607C>G (p.Leu869=) c.1833C>G (p.Leu611=) c.1800C>G (p.Leu600=) n.2834C>G c.2013C>G (p.Leu671=) n.2828C>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53248185G= | CA2429774930 | IQSEC2 | c.2670C= (p.Leu890=) c.463C= c.2511C= (p.Leu837=) n.262C= c.2481C= (p.Leu827=) c.1896C= (p.Leu632=) c.2607C= (p.Leu869=) c.1833C= (p.Leu611=) c.1800C= (p.Leu600=) n.2834C= c.2013C= (p.Leu671=) n.2828C= | |
| X | g.53248185G>T | CA516428226 | IQSEC2 | c.2670C>A (p.Leu890=) c.463C>A c.2511C>A (p.Leu837=) n.262C>A c.2481C>A (p.Leu827=) c.1896C>A (p.Leu632=) c.2607C>A (p.Leu869=) c.1833C>A (p.Leu611=) c.1800C>A (p.Leu600=) n.2834C>A c.2013C>A (p.Leu671=) n.2828C>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53248186A>C | CA413157165 | IQSEC2 | c.2669T>G (p.Leu890Arg) c.462T>G c.2510T>G (p.Leu837Arg) n.261T>G c.2480T>G (p.Leu827Arg) c.1895T>G (p.Leu632Arg) c.2606T>G (p.Leu869Arg) c.1832T>G (p.Leu611Arg) c.1799T>G (p.Leu600Arg) n.2833T>G c.2012T>G (p.Leu671Arg) n.2827T>G | |
| X | g.53248186A>G | CA413157166 | IQSEC2 | c.2669T>C (p.Leu890Pro) c.462T>C c.2510T>C (p.Leu837Pro) n.261T>C c.2480T>C (p.Leu827Pro) c.1895T>C (p.Leu632Pro) c.2606T>C (p.Leu869Pro) c.1832T>C (p.Leu611Pro) c.1799T>C (p.Leu600Pro) n.2833T>C c.2012T>C (p.Leu671Pro) n.2827T>C | |
| X | g.53248186A>T | CA413157169 | IQSEC2 | c.2669T>A (p.Leu890His) c.462T>A c.2510T>A (p.Leu837His) n.261T>A c.2480T>A (p.Leu827His) c.1895T>A (p.Leu632His) c.2606T>A (p.Leu869His) c.1832T>A (p.Leu611His) c.1799T>A (p.Leu600His) n.2833T>A c.2012T>A (p.Leu671His) n.2827T>A | |
| X | g.53248187G>A | CA413157173 | IQSEC2 | c.2668C>T (p.Leu890Phe) c.461C>T c.2509C>T (p.Leu837Phe) n.260C>T c.2479C>T (p.Leu827Phe) c.1894C>T (p.Leu632Phe) c.2605C>T (p.Leu869Phe) c.1831C>T (p.Leu611Phe) c.1798C>T (p.Leu600Phe) n.2832C>T c.2011C>T (p.Leu671Phe) n.2826C>T | |
| X | g.53248187G>C | CA413157175 | IQSEC2 | c.2668C>G (p.Leu890Val) c.461C>G c.2509C>G (p.Leu837Val) n.260C>G c.2479C>G (p.Leu827Val) c.1894C>G (p.Leu632Val) c.2605C>G (p.Leu869Val) c.1831C>G (p.Leu611Val) c.1798C>G (p.Leu600Val) n.2832C>G c.2011C>G (p.Leu671Val) n.2826C>G | |
| X | g.53248187G>T | CA413157178 | IQSEC2 | c.2668C>A (p.Leu890Ile) c.461C>A c.2509C>A (p.Leu837Ile) n.260C>A c.2479C>A (p.Leu827Ile) c.1894C>A (p.Leu632Ile) c.2605C>A (p.Leu869Ile) c.1831C>A (p.Leu611Ile) c.1798C>A (p.Leu600Ile) n.2832C>A c.2011C>A (p.Leu671Ile) n.2826C>A | |
| X | g.53248188C>A | CA516428232 | IQSEC2 | c.2667G>T (p.Ala889=) c.460G>T c.2508G>T (p.Ala836=) n.259G>T c.2478G>T (p.Ala826=) c.1893G>T (p.Ala631=) c.2604G>T (p.Ala868=) c.1830G>T (p.Ala610=) c.1797G>T (p.Ala599=) n.2831G>T c.2010G>T (p.Ala670=) n.2825G>T | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.53248188C= | CA2429774931 | IQSEC2 | c.2667G= (p.Ala889=) c.460G= c.2508G= (p.Ala836=) n.259G= c.2478G= (p.Ala826=) c.1893G= (p.Ala631=) c.2604G= (p.Ala868=) c.1830G= (p.Ala610=) c.1797G= (p.Ala599=) n.2831G= c.2010G= (p.Ala670=) n.2825G= | |
| X | g.53248188C>G | CA10419928 | IQSEC2 | c.2667G>C (p.Ala889=) c.460G>C c.2508G>C (p.Ala836=) n.259G>C c.2478G>C (p.Ala826=) c.1893G>C (p.Ala631=) c.2604G>C (p.Ala868=) c.1830G>C (p.Ala610=) c.1797G>C (p.Ala599=) n.2831G>C c.2010G>C (p.Ala670=) n.2825G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53248188C>T | CA10419927 | IQSEC2 | c.2667G>A (p.Ala889=) c.460G>A c.2508G>A (p.Ala836=) n.259G>A c.2478G>A (p.Ala826=) c.1893G>A (p.Ala631=) c.2604G>A (p.Ala868=) c.1830G>A (p.Ala610=) c.1797G>A (p.Ala599=) n.2831G>A c.2010G>A (p.Ala670=) n.2825G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53248189G>A | CA10419929 | IQSEC2 | c.2666C>T (p.Ala889Val) c.459C>T c.2507C>T (p.Ala836Val) n.258C>T c.2477C>T (p.Ala826Val) c.1892C>T (p.Ala631Val) c.2603C>T (p.Ala868Val) c.1829C>T (p.Ala610Val) c.1796C>T (p.Ala599Val) n.2830C>T c.2009C>T (p.Ala670Val) n.2824C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53248189G>C | CA413157186 | IQSEC2 | c.2666C>G (p.Ala889Gly) c.459C>G c.2507C>G (p.Ala836Gly) n.258C>G c.2477C>G (p.Ala826Gly) c.1892C>G (p.Ala631Gly) c.2603C>G (p.Ala868Gly) c.1829C>G (p.Ala610Gly) c.1796C>G (p.Ala599Gly) n.2830C>G c.2009C>G (p.Ala670Gly) n.2824C>G | |
| X | g.53248189G= | CA2429774932 | IQSEC2 | c.2666C= (p.Ala889=) c.459C= c.2507C= (p.Ala836=) n.258C= c.2477C= (p.Ala826=) c.1892C= (p.Ala631=) c.2603C= (p.Ala868=) c.1829C= (p.Ala610=) c.1796C= (p.Ala599=) n.2830C= c.2009C= (p.Ala670=) n.2824C= | |
| X | g.53248189G>T | CA413157183 | IQSEC2 | c.2666C>A (p.Ala889Glu) c.459C>A c.2507C>A (p.Ala836Glu) n.258C>A c.2477C>A (p.Ala826Glu) c.1892C>A (p.Ala631Glu) c.2603C>A (p.Ala868Glu) c.1829C>A (p.Ala610Glu) c.1796C>A (p.Ala599Glu) n.2830C>A c.2009C>A (p.Ala670Glu) n.2824C>A | |
| X | g.53248190C>A | CA413157189 | IQSEC2 | c.2665G>T (p.Ala889Ser) c.458G>T c.2506G>T (p.Ala836Ser) n.257G>T c.2476G>T (p.Ala826Ser) c.1891G>T (p.Ala631Ser) c.2602G>T (p.Ala868Ser) c.1828G>T (p.Ala610Ser) c.1795G>T (p.Ala599Ser) n.2829G>T c.2008G>T (p.Ala670Ser) n.2823G>T | |
| X | g.53248190C>G | CA413157192 | IQSEC2 | c.2665G>C (p.Ala889Pro) c.458G>C c.2506G>C (p.Ala836Pro) n.257G>C c.2476G>C (p.Ala826Pro) c.1891G>C (p.Ala631Pro) c.2602G>C (p.Ala868Pro) c.1828G>C (p.Ala610Pro) c.1795G>C (p.Ala599Pro) n.2829G>C c.2008G>C (p.Ala670Pro) n.2823G>C | |
| X | g.53248190C>T | CA413157194 | IQSEC2 | c.2665G>A (p.Ala889Thr) c.458G>A c.2506G>A (p.Ala836Thr) n.257G>A c.2476G>A (p.Ala826Thr) c.1891G>A (p.Ala631Thr) c.2602G>A (p.Ala868Thr) c.1828G>A (p.Ala610Thr) c.1795G>A (p.Ala599Thr) n.2829G>A c.2008G>A (p.Ala670Thr) n.2823G>A | |
| X | g.53248191A>C | CA413157197 | IQSEC2 | c.2664T>G (p.Asp888Glu) c.457T>G c.2505T>G (p.Asp835Glu) n.256T>G c.2475T>G (p.Asp825Glu) c.1890T>G (p.Asp630Glu) c.2601T>G (p.Asp867Glu) c.1827T>G (p.Asp609Glu) c.1794T>G (p.Asp598Glu) n.2828T>G c.2007T>G (p.Asp669Glu) n.2822T>G | |
| X | g.53248191A>G | CA516428242 | IQSEC2 | c.2664T>C (p.Asp888=) c.457T>C c.2505T>C (p.Asp835=) n.256T>C c.2475T>C (p.Asp825=) c.1890T>C (p.Asp630=) c.2601T>C (p.Asp867=) c.1827T>C (p.Asp609=) c.1794T>C (p.Asp598=) n.2828T>C c.2007T>C (p.Asp669=) n.2822T>C | |
| X | g.53248191A>T | CA413157199 | IQSEC2 | c.2664T>A (p.Asp888Glu) c.457T>A c.2505T>A (p.Asp835Glu) n.256T>A c.2475T>A (p.Asp825Glu) c.1890T>A (p.Asp630Glu) c.2601T>A (p.Asp867Glu) c.1827T>A (p.Asp609Glu) c.1794T>A (p.Asp598Glu) n.2828T>A c.2007T>A (p.Asp669Glu) n.2822T>A | |
| X | g.53248192T>A | CA413157206 | IQSEC2 | c.2663A>T (p.Asp888Val) c.456A>T c.2504A>T (p.Asp835Val) n.255A>T c.2474A>T (p.Asp825Val) c.1889A>T (p.Asp630Val) c.2600A>T (p.Asp867Val) c.1826A>T (p.Asp609Val) c.1793A>T (p.Asp598Val) n.2827A>T c.2006A>T (p.Asp669Val) n.2821A>T | |
| X | g.53248192T>C | CA413157202 | IQSEC2 | c.2663A>G (p.Asp888Gly) c.456A>G c.2504A>G (p.Asp835Gly) n.255A>G c.2474A>G (p.Asp825Gly) c.1889A>G (p.Asp630Gly) c.2600A>G (p.Asp867Gly) c.1826A>G (p.Asp609Gly) c.1793A>G (p.Asp598Gly) n.2827A>G c.2006A>G (p.Asp669Gly) n.2821A>G | |
| X | g.53248192T>G | CA413157204 | IQSEC2 | c.2663A>C (p.Asp888Ala) c.456A>C c.2504A>C (p.Asp835Ala) n.255A>C c.2474A>C (p.Asp825Ala) c.1889A>C (p.Asp630Ala) c.2600A>C (p.Asp867Ala) c.1826A>C (p.Asp609Ala) c.1793A>C (p.Asp598Ala) n.2827A>C c.2006A>C (p.Asp669Ala) n.2821A>C | |
| X | g.53248193C>A | CA413157210 | IQSEC2 | c.2662G>T (p.Asp888Tyr) c.455G>T c.2503G>T (p.Asp835Tyr) n.254G>T c.2473G>T (p.Asp825Tyr) c.1888G>T (p.Asp630Tyr) c.2599G>T (p.Asp867Tyr) c.1825G>T (p.Asp609Tyr) c.1792G>T (p.Asp598Tyr) n.2826G>T c.2005G>T (p.Asp669Tyr) n.2820G>T | |
| X | g.53248193C>G | CA413157211 | IQSEC2 | c.2662G>C (p.Asp888His) c.455G>C c.2503G>C (p.Asp835His) n.254G>C c.2473G>C (p.Asp825His) c.1888G>C (p.Asp630His) c.2599G>C (p.Asp867His) c.1825G>C (p.Asp609His) c.1792G>C (p.Asp598His) n.2826G>C c.2005G>C (p.Asp669His) n.2820G>C | |
| X | g.53248193C>T | CA413157214 | IQSEC2 | c.2662G>A (p.Asp888Asn) c.455G>A c.2503G>A (p.Asp835Asn) n.254G>A c.2473G>A (p.Asp825Asn) c.1888G>A (p.Asp630Asn) c.2599G>A (p.Asp867Asn) c.1825G>A (p.Asp609Asn) c.1792G>A (p.Asp598Asn) n.2826G>A c.2005G>A (p.Asp669Asn) n.2820G>A | |
| X | g.53248194A>C | CA413157216 | IQSEC2 | c.2661T>G (p.Asp887Glu) c.454T>G c.2502T>G (p.Asp834Glu) n.253T>G c.2472T>G (p.Asp824Glu) c.1887T>G (p.Asp629Glu) c.2598T>G (p.Asp866Glu) c.1824T>G (p.Asp608Glu) c.1791T>G (p.Asp597Glu) n.2825T>G c.2004T>G (p.Asp668Glu) n.2819T>G | |
| X | g.53248194A>G | CA516428247 | IQSEC2 | c.2661T>C (p.Asp887=) c.454T>C c.2502T>C (p.Asp834=) n.253T>C c.2472T>C (p.Asp824=) c.1887T>C (p.Asp629=) c.2598T>C (p.Asp866=) c.1824T>C (p.Asp608=) c.1791T>C (p.Asp597=) n.2825T>C c.2004T>C (p.Asp668=) n.2819T>C | |
| X | g.53248194A>T | CA413157219 | IQSEC2 | c.2661T>A (p.Asp887Glu) c.454T>A c.2502T>A (p.Asp834Glu) n.253T>A c.2472T>A (p.Asp824Glu) c.1887T>A (p.Asp629Glu) c.2598T>A (p.Asp866Glu) c.1824T>A (p.Asp608Glu) c.1791T>A (p.Asp597Glu) n.2825T>A c.2004T>A (p.Asp668Glu) n.2819T>A | |
| X | g.53248195T>A | CA329165561 | IQSEC2 | c.2660A>T (p.Asp887Val) c.453A>T c.2501A>T (p.Asp834Val) n.252A>T c.2471A>T (p.Asp824Val) c.1886A>T (p.Asp629Val) c.2597A>T (p.Asp866Val) c.1823A>T (p.Asp608Val) c.1790A>T (p.Asp597Val) n.2824A>T c.2003A>T (p.Asp668Val) n.2818A>T | dbSNP gnomAD v4 |
| X | g.53248195T>C | CA413157225 | IQSEC2 | c.2660A>G (p.Asp887Gly) c.453A>G c.2501A>G (p.Asp834Gly) n.252A>G c.2471A>G (p.Asp824Gly) c.1886A>G (p.Asp629Gly) c.2597A>G (p.Asp866Gly) c.1823A>G (p.Asp608Gly) c.1790A>G (p.Asp597Gly) n.2824A>G c.2003A>G (p.Asp668Gly) n.2818A>G | |
| X | g.53248195T>G | CA413157223 | IQSEC2 | c.2660A>C (p.Asp887Ala) c.453A>C c.2501A>C (p.Asp834Ala) n.252A>C c.2471A>C (p.Asp824Ala) c.1886A>C (p.Asp629Ala) c.2597A>C (p.Asp866Ala) c.1823A>C (p.Asp608Ala) c.1790A>C (p.Asp597Ala) n.2824A>C c.2003A>C (p.Asp668Ala) n.2818A>C | |
| X | g.53248195T= | CA2429774933 | IQSEC2 | c.2660A= (p.Asp887=) c.453A= c.2501A= (p.Asp834=) n.252A= c.2471A= (p.Asp824=) c.1886A= (p.Asp629=) c.2597A= (p.Asp866=) c.1823A= (p.Asp608=) c.1790A= (p.Asp597=) n.2824A= c.2003A= (p.Asp668=) n.2818A= | |
| X | g.53248196C>A | CA413157229 | IQSEC2 | c.2659G>T (p.Asp887Tyr) c.452G>T c.2500G>T (p.Asp834Tyr) n.251G>T c.2470G>T (p.Asp824Tyr) c.1885G>T (p.Asp629Tyr) c.2596G>T (p.Asp866Tyr) c.1822G>T (p.Asp608Tyr) c.1789G>T (p.Asp597Tyr) n.2823G>T c.2002G>T (p.Asp668Tyr) n.2817G>T | |
| X | g.53248196C>G | CA413157232 | IQSEC2 | c.2659G>C (p.Asp887His) c.452G>C c.2500G>C (p.Asp834His) n.251G>C c.2470G>C (p.Asp824His) c.1885G>C (p.Asp629His) c.2596G>C (p.Asp866His) c.1822G>C (p.Asp608His) c.1789G>C (p.Asp597His) n.2823G>C c.2002G>C (p.Asp668His) n.2817G>C | |
| X | g.53248196C>T | CA413157234 | IQSEC2 | c.2659G>A (p.Asp887Asn) c.452G>A c.2500G>A (p.Asp834Asn) n.251G>A c.2470G>A (p.Asp824Asn) c.1885G>A (p.Asp629Asn) c.2596G>A (p.Asp866Asn) c.1822G>A (p.Asp608Asn) c.1789G>A (p.Asp597Asn) n.2823G>A c.2002G>A (p.Asp668Asn) n.2817G>A | |
| X | g.53248197C>A | CA516428256 | IQSEC2 | c.2658G>T (p.Leu886=) c.451G>T c.2499G>T (p.Leu833=) n.250G>T c.2469G>T (p.Leu823=) c.1884G>T (p.Leu628=) c.2595G>T (p.Leu865=) c.1821G>T (p.Leu607=) c.1788G>T (p.Leu596=) n.2822G>T c.2001G>T (p.Leu667=) n.2816G>T | |
| X | g.53248197C>G | CA516428254 | IQSEC2 | c.2658G>C (p.Leu886=) c.451G>C c.2499G>C (p.Leu833=) n.250G>C c.2469G>C (p.Leu823=) c.1884G>C (p.Leu628=) c.2595G>C (p.Leu865=) c.1821G>C (p.Leu607=) c.1788G>C (p.Leu596=) n.2822G>C c.2001G>C (p.Leu667=) n.2816G>C | |
| X | g.53248197C>T | CA516428253 | IQSEC2 | c.2658G>A (p.Leu886=) c.451G>A c.2499G>A (p.Leu833=) n.250G>A c.2469G>A (p.Leu823=) c.1884G>A (p.Leu628=) c.2595G>A (p.Leu865=) c.1821G>A (p.Leu607=) c.1788G>A (p.Leu596=) n.2822G>A c.2001G>A (p.Leu667=) n.2816G>A | |
| X | g.53248198A>C | CA413157237 | IQSEC2 | c.2657T>G (p.Leu886Arg) c.450T>G c.2498T>G (p.Leu833Arg) n.249T>G c.2468T>G (p.Leu823Arg) c.1883T>G (p.Leu628Arg) c.2594T>G (p.Leu865Arg) c.1820T>G (p.Leu607Arg) c.1787T>G (p.Leu596Arg) n.2821T>G c.2000T>G (p.Leu667Arg) n.2815T>G | |
| X | g.53248198A>G | CA413157238 | IQSEC2 | c.2657T>C (p.Leu886Pro) c.450T>C c.2498T>C (p.Leu833Pro) n.249T>C c.2468T>C (p.Leu823Pro) c.1883T>C (p.Leu628Pro) c.2594T>C (p.Leu865Pro) c.1820T>C (p.Leu607Pro) c.1787T>C (p.Leu596Pro) n.2821T>C c.2000T>C (p.Leu667Pro) n.2815T>C | |
| X | g.53248198A>T | CA413157239 | IQSEC2 | c.2657T>A (p.Leu886Gln) c.450T>A c.2498T>A (p.Leu833Gln) n.249T>A c.2468T>A (p.Leu823Gln) c.1883T>A (p.Leu628Gln) c.2594T>A (p.Leu865Gln) c.1820T>A (p.Leu607Gln) c.1787T>A (p.Leu596Gln) n.2821T>A c.2000T>A (p.Leu667Gln) n.2815T>A | |
| X | g.53248199G>A | CA516428259 | IQSEC2 | c.2656C>T (p.Leu886=) c.449C>T c.2497C>T (p.Leu833=) n.248C>T c.2467C>T (p.Leu823=) c.1882C>T (p.Leu628=) c.2593C>T (p.Leu865=) c.1819C>T (p.Leu607=) c.1786C>T (p.Leu596=) n.2820C>T c.1999C>T (p.Leu667=) n.2814C>T | |
| X | g.53248199G>C | CA413157242 | IQSEC2 | c.2656C>G (p.Leu886Val) c.449C>G c.2497C>G (p.Leu833Val) n.248C>G c.2467C>G (p.Leu823Val) c.1882C>G (p.Leu628Val) c.2593C>G (p.Leu865Val) c.1819C>G (p.Leu607Val) c.1786C>G (p.Leu596Val) n.2820C>G c.1999C>G (p.Leu667Val) n.2814C>G | |
| X | g.53248199G>T | CA413157244 | IQSEC2 | c.2656C>A (p.Leu886Met) c.449C>A c.2497C>A (p.Leu833Met) n.248C>A c.2467C>A (p.Leu823Met) c.1882C>A (p.Leu628Met) c.2593C>A (p.Leu865Met) c.1819C>A (p.Leu607Met) c.1786C>A (p.Leu596Met) n.2820C>A c.1999C>A (p.Leu667Met) n.2814C>A | |
| X | g.53248200A>C | CA413157246 | IQSEC2 | c.2655T>G (p.Asp885Glu) c.448T>G c.2496T>G (p.Asp832Glu) n.247T>G c.2466T>G (p.Asp822Glu) c.1881T>G (p.Asp627Glu) c.2592T>G (p.Asp864Glu) c.1818T>G (p.Asp606Glu) c.1785T>G (p.Asp595Glu) n.2819T>G c.1998T>G (p.Asp666Glu) n.2813T>G | |
| X | g.53248200A>G | CA516428263 | IQSEC2 | c.2655T>C (p.Asp885=) c.448T>C c.2496T>C (p.Asp832=) n.247T>C c.2466T>C (p.Asp822=) c.1881T>C (p.Asp627=) c.2592T>C (p.Asp864=) c.1818T>C (p.Asp606=) c.1785T>C (p.Asp595=) n.2819T>C c.1998T>C (p.Asp666=) n.2813T>C | |
| X | g.53248200A>T | CA413157249 | IQSEC2 | c.2655T>A (p.Asp885Glu) c.448T>A c.2496T>A (p.Asp832Glu) n.247T>A c.2466T>A (p.Asp822Glu) c.1881T>A (p.Asp627Glu) c.2592T>A (p.Asp864Glu) c.1818T>A (p.Asp606Glu) c.1785T>A (p.Asp595Glu) n.2819T>A c.1998T>A (p.Asp666Glu) n.2813T>A | |
| X | g.53248201T>A | CA413157250 | IQSEC2 | c.2654A>T (p.Asp885Val) c.447A>T c.2495A>T (p.Asp832Val) n.246A>T c.2465A>T (p.Asp822Val) c.1880A>T (p.Asp627Val) c.2591A>T (p.Asp864Val) c.1817A>T (p.Asp606Val) c.1784A>T (p.Asp595Val) n.2818A>T c.1997A>T (p.Asp666Val) n.2812A>T | |
| X | g.53248201T>C | CA413157252 | IQSEC2 | c.2654A>G (p.Asp885Gly) c.447A>G c.2495A>G (p.Asp832Gly) n.246A>G c.2465A>G (p.Asp822Gly) c.1880A>G (p.Asp627Gly) c.2591A>G (p.Asp864Gly) c.1817A>G (p.Asp606Gly) c.1784A>G (p.Asp595Gly) n.2818A>G c.1997A>G (p.Asp666Gly) n.2812A>G | |
| X | g.53248201T>G | CA413157254 | IQSEC2 | c.2654A>C (p.Asp885Ala) c.447A>C c.2495A>C (p.Asp832Ala) n.246A>C c.2465A>C (p.Asp822Ala) c.1880A>C (p.Asp627Ala) c.2591A>C (p.Asp864Ala) c.1817A>C (p.Asp606Ala) c.1784A>C (p.Asp595Ala) n.2818A>C c.1997A>C (p.Asp666Ala) n.2812A>C | |
| X | g.53248202C>A | CA413157262 | IQSEC2 | c.2653G>T (p.Asp885Tyr) c.446G>T c.2494G>T (p.Asp832Tyr) n.245G>T c.2464G>T (p.Asp822Tyr) c.1879G>T (p.Asp627Tyr) c.2590G>T (p.Asp864Tyr) c.1816G>T (p.Asp606Tyr) c.1783G>T (p.Asp595Tyr) n.2817G>T c.1996G>T (p.Asp666Tyr) n.2811G>T | |
| X | g.53248202C>G | CA413157258 | IQSEC2 | c.2653G>C (p.Asp885His) c.446G>C c.2494G>C (p.Asp832His) n.245G>C c.2464G>C (p.Asp822His) c.1879G>C (p.Asp627His) c.2590G>C (p.Asp864His) c.1816G>C (p.Asp606His) c.1783G>C (p.Asp595His) n.2817G>C c.1996G>C (p.Asp666His) n.2811G>C | |
| X | g.53248202C>T | CA413157261 | IQSEC2 | c.2653G>A (p.Asp885Asn) c.446G>A c.2494G>A (p.Asp832Asn) n.245G>A c.2464G>A (p.Asp822Asn) c.1879G>A (p.Asp627Asn) c.2590G>A (p.Asp864Asn) c.1816G>A (p.Asp606Asn) c.1783G>A (p.Asp595Asn) n.2817G>A c.1996G>A (p.Asp666Asn) n.2811G>A | |
| X | g.53248203C>A | CA413157266 | IQSEC2 | c.2652G>T (p.Met884Ile) c.445G>T c.2493G>T (p.Met831Ile) n.244G>T c.2463G>T (p.Met821Ile) c.1878G>T (p.Met626Ile) c.2589G>T (p.Met863Ile) c.1815G>T (p.Met605Ile) c.1782G>T (p.Met594Ile) n.2816G>T c.1995G>T (p.Met665Ile) n.2810G>T | |
| X | g.53248203C>G | CA413157269 | IQSEC2 | c.2652G>C (p.Met884Ile) c.445G>C c.2493G>C (p.Met831Ile) n.244G>C c.2463G>C (p.Met821Ile) c.1878G>C (p.Met626Ile) c.2589G>C (p.Met863Ile) c.1815G>C (p.Met605Ile) c.1782G>C (p.Met594Ile) n.2816G>C c.1995G>C (p.Met665Ile) n.2810G>C | |
| X | g.53248203C>T | CA413157272 | IQSEC2 | c.2652G>A (p.Met884Ile) c.445G>A c.2493G>A (p.Met831Ile) n.244G>A c.2463G>A (p.Met821Ile) c.1878G>A (p.Met626Ile) c.2589G>A (p.Met863Ile) c.1815G>A (p.Met605Ile) c.1782G>A (p.Met594Ile) n.2816G>A c.1995G>A (p.Met665Ile) n.2810G>A | |
| X | g.53248204A>C | CA413157277 | IQSEC2 | c.2651T>G (p.Met884Arg) c.444T>G c.2492T>G (p.Met831Arg) n.243T>G c.2462T>G (p.Met821Arg) c.1877T>G (p.Met626Arg) c.2588T>G (p.Met863Arg) c.1814T>G (p.Met605Arg) c.1781T>G (p.Met594Arg) n.2815T>G c.1994T>G (p.Met665Arg) n.2809T>G | |
| X | g.53248204A>G | CA413157280 | IQSEC2 | c.2651T>C (p.Met884Thr) c.444T>C c.2492T>C (p.Met831Thr) n.243T>C c.2462T>C (p.Met821Thr) c.1877T>C (p.Met626Thr) c.2588T>C (p.Met863Thr) c.1814T>C (p.Met605Thr) c.1781T>C (p.Met594Thr) n.2815T>C c.1994T>C (p.Met665Thr) n.2809T>C | |
| X | g.53248204A>T | CA413157284 | IQSEC2 | c.2651T>A (p.Met884Lys) c.444T>A c.2492T>A (p.Met831Lys) n.243T>A c.2462T>A (p.Met821Lys) c.1877T>A (p.Met626Lys) c.2588T>A (p.Met863Lys) c.1814T>A (p.Met605Lys) c.1781T>A (p.Met594Lys) n.2815T>A c.1994T>A (p.Met665Lys) n.2809T>A | |
| X | g.53248205T>A | CA413157288 | IQSEC2 | c.2650A>T (p.Met884Leu) c.443A>T c.2491A>T (p.Met831Leu) n.242A>T c.2461A>T (p.Met821Leu) c.1876A>T (p.Met626Leu) c.2587A>T (p.Met863Leu) c.1813A>T (p.Met605Leu) c.1780A>T (p.Met594Leu) n.2814A>T c.1993A>T (p.Met665Leu) n.2808A>T | |
| X | g.53248205T>C | CA413157290 | IQSEC2 | c.2650A>G (p.Met884Val) c.443A>G c.2491A>G (p.Met831Val) n.242A>G c.2461A>G (p.Met821Val) c.1876A>G (p.Met626Val) c.2587A>G (p.Met863Val) c.1813A>G (p.Met605Val) c.1780A>G (p.Met594Val) n.2814A>G c.1993A>G (p.Met665Val) n.2808A>G | ClinVar |
| X | g.53248205T>G | CA413157294 | IQSEC2 | c.2650A>C (p.Met884Leu) c.443A>C c.2491A>C (p.Met831Leu) n.242A>C c.2461A>C (p.Met821Leu) c.1876A>C (p.Met626Leu) c.2587A>C (p.Met863Leu) c.1813A>C (p.Met605Leu) c.1780A>C (p.Met594Leu) n.2814A>C c.1993A>C (p.Met665Leu) n.2808A>C | |
| X | g.53248206G>A | CA516428280 | IQSEC2 | c.2649C>T (p.Ser883=) c.442C>T c.2490C>T (p.Ser830=) n.241C>T c.2460C>T (p.Ser820=) c.1875C>T (p.Ser625=) c.2586C>T (p.Ser862=) c.1812C>T (p.Ser604=) c.1779C>T (p.Ser593=) n.2813C>T c.1992C>T (p.Ser664=) n.2807C>T | |
| X | g.53248206G>C | CA516428281 | IQSEC2 | c.2649C>G (p.Ser883=) c.442C>G c.2490C>G (p.Ser830=) n.241C>G c.2460C>G (p.Ser820=) c.1875C>G (p.Ser625=) c.2586C>G (p.Ser862=) c.1812C>G (p.Ser604=) c.1779C>G (p.Ser593=) n.2813C>G c.1992C>G (p.Ser664=) n.2807C>G | |
| X | g.53248206G>T | CA516428283 | IQSEC2 | c.2649C>A (p.Ser883=) c.442C>A c.2490C>A (p.Ser830=) n.241C>A c.2460C>A (p.Ser820=) c.1875C>A (p.Ser625=) c.2586C>A (p.Ser862=) c.1812C>A (p.Ser604=) c.1779C>A (p.Ser593=) n.2813C>A c.1992C>A (p.Ser664=) n.2807C>A | gnomAD v4 |
| X | g.53248210_53248212del | CA2693789475 | IQSEC2 | c.2647_2649del (p.Ser883del) c.440_442del c.2488_2490del (p.Ser830del) n.239_241del c.2458_2460del (p.Ser820del) c.1873_1875del (p.Ser625del) c.2584_2586del (p.Ser862del) c.1810_1812del (p.Ser604del) c.1777_1779del (p.Ser593del) n.2811_2813del c.1990_1992del (p.Ser664del) n.2805_2807del | gnomAD v4 |
| X | g.53248207G>A | CA413157298 | IQSEC2 | c.2648C>T (p.Ser883Phe) c.441C>T c.2489C>T (p.Ser830Phe) n.240C>T c.2459C>T (p.Ser820Phe) c.1874C>T (p.Ser625Phe) c.2585C>T (p.Ser862Phe) c.1811C>T (p.Ser604Phe) c.1778C>T (p.Ser593Phe) n.2812C>T c.1991C>T (p.Ser664Phe) n.2806C>T | |
| X | g.53248207G>C | CA413157301 | IQSEC2 | c.2648C>G (p.Ser883Cys) c.441C>G c.2489C>G (p.Ser830Cys) n.240C>G c.2459C>G (p.Ser820Cys) c.1874C>G (p.Ser625Cys) c.2585C>G (p.Ser862Cys) c.1811C>G (p.Ser604Cys) c.1778C>G (p.Ser593Cys) n.2812C>G c.1991C>G (p.Ser664Cys) n.2806C>G | |
| X | g.53248207G>T | CA413157304 | IQSEC2 | c.2648C>A (p.Ser883Tyr) c.441C>A c.2489C>A (p.Ser830Tyr) n.240C>A c.2459C>A (p.Ser820Tyr) c.1874C>A (p.Ser625Tyr) c.2585C>A (p.Ser862Tyr) c.1811C>A (p.Ser604Tyr) c.1778C>A (p.Ser593Tyr) n.2812C>A c.1991C>A (p.Ser664Tyr) n.2806C>A | |
| X | g.53248208A>C | CA413157313 | IQSEC2 | c.2647T>G (p.Ser883Ala) c.440T>G c.2488T>G (p.Ser830Ala) n.239T>G c.2458T>G (p.Ser820Ala) c.1873T>G (p.Ser625Ala) c.2584T>G (p.Ser862Ala) c.1810T>G (p.Ser604Ala) c.1777T>G (p.Ser593Ala) n.2811T>G c.1990T>G (p.Ser664Ala) n.2805T>G | |
| X | g.53248208A>G | CA413157310 | IQSEC2 | c.2647T>C (p.Ser883Pro) c.440T>C c.2488T>C (p.Ser830Pro) n.239T>C c.2458T>C (p.Ser820Pro) c.1873T>C (p.Ser625Pro) c.2584T>C (p.Ser862Pro) c.1810T>C (p.Ser604Pro) c.1777T>C (p.Ser593Pro) n.2811T>C c.1990T>C (p.Ser664Pro) n.2805T>C | |
| X | g.53248208A>T | CA413157307 | IQSEC2 | c.2647T>A (p.Ser883Thr) c.440T>A c.2488T>A (p.Ser830Thr) n.239T>A c.2458T>A (p.Ser820Thr) c.1873T>A (p.Ser625Thr) c.2584T>A (p.Ser862Thr) c.1810T>A (p.Ser604Thr) c.1777T>A (p.Ser593Thr) n.2811T>A c.1990T>A (p.Ser664Thr) n.2805T>A | |
| X | g.53248209G>A | CA516428297 | IQSEC2 | c.2646C>T (p.Ser882=) c.439C>T c.2487C>T (p.Ser829=) n.238C>T c.2457C>T (p.Ser819=) c.1872C>T (p.Ser624=) c.2583C>T (p.Ser861=) c.1809C>T (p.Ser603=) c.1776C>T (p.Ser592=) n.2810C>T c.1989C>T (p.Ser663=) n.2804C>T | |
| X | g.53248209G>C | CA516428298 | IQSEC2 | c.2646C>G (p.Ser882=) c.439C>G c.2487C>G (p.Ser829=) n.238C>G c.2457C>G (p.Ser819=) c.1872C>G (p.Ser624=) c.2583C>G (p.Ser861=) c.1809C>G (p.Ser603=) c.1776C>G (p.Ser592=) n.2810C>G c.1989C>G (p.Ser663=) n.2804C>G | |
| X | g.53248209G>T | CA516428300 | IQSEC2 | c.2646C>A (p.Ser882=) c.439C>A c.2487C>A (p.Ser829=) n.238C>A c.2457C>A (p.Ser819=) c.1872C>A (p.Ser624=) c.2583C>A (p.Ser861=) c.1809C>A (p.Ser603=) c.1776C>A (p.Ser592=) n.2810C>A c.1989C>A (p.Ser663=) n.2804C>A | |
| X | g.53248210G>A | CA413157318 | IQSEC2 | c.2645C>T (p.Ser882Phe) c.438C>T c.2486C>T (p.Ser829Phe) n.237C>T c.2456C>T (p.Ser819Phe) c.1871C>T (p.Ser624Phe) c.2582C>T (p.Ser861Phe) c.1808C>T (p.Ser603Phe) c.1775C>T (p.Ser592Phe) n.2809C>T c.1988C>T (p.Ser663Phe) n.2803C>T | |
| X | g.53248210G>C | CA413157323 | IQSEC2 | c.2645C>G (p.Ser882Cys) c.438C>G c.2486C>G (p.Ser829Cys) n.237C>G c.2456C>G (p.Ser819Cys) c.1871C>G (p.Ser624Cys) c.2582C>G (p.Ser861Cys) c.1808C>G (p.Ser603Cys) c.1775C>G (p.Ser592Cys) n.2809C>G c.1988C>G (p.Ser663Cys) n.2803C>G | |
| X | g.53248210G>T | CA413157321 | IQSEC2 | c.2645C>A (p.Ser882Tyr) c.438C>A c.2486C>A (p.Ser829Tyr) n.237C>A c.2456C>A (p.Ser819Tyr) c.1871C>A (p.Ser624Tyr) c.2582C>A (p.Ser861Tyr) c.1808C>A (p.Ser603Tyr) c.1775C>A (p.Ser592Tyr) n.2809C>A c.1988C>A (p.Ser663Tyr) n.2803C>A | |
| X | g.53248211A>C | CA413157328 | IQSEC2 | c.2644T>G (p.Ser882Ala) c.437T>G c.2485T>G (p.Ser829Ala) n.236T>G c.2455T>G (p.Ser819Ala) c.1870T>G (p.Ser624Ala) c.2581T>G (p.Ser861Ala) c.1807T>G (p.Ser603Ala) c.1774T>G (p.Ser592Ala) n.2808T>G c.1987T>G (p.Ser663Ala) n.2802T>G | |
| X | g.53248211A>G | CA413157334 | IQSEC2 | c.2644T>C (p.Ser882Pro) c.437T>C c.2485T>C (p.Ser829Pro) n.236T>C c.2455T>C (p.Ser819Pro) c.1870T>C (p.Ser624Pro) c.2581T>C (p.Ser861Pro) c.1807T>C (p.Ser603Pro) c.1774T>C (p.Ser592Pro) n.2808T>C c.1987T>C (p.Ser663Pro) n.2802T>C | |
| X | g.53248211A>T | CA413157330 | IQSEC2 | c.2644T>A (p.Ser882Thr) c.437T>A c.2485T>A (p.Ser829Thr) n.236T>A c.2455T>A (p.Ser819Thr) c.1870T>A (p.Ser624Thr) c.2581T>A (p.Ser861Thr) c.1807T>A (p.Ser603Thr) c.1774T>A (p.Ser592Thr) n.2808T>A c.1987T>A (p.Ser663Thr) n.2802T>A | |
| X | g.53248212G>A | CA516428303 | IQSEC2 | c.2643C>T (p.Phe881=) c.436C>T c.2484C>T (p.Phe828=) n.235C>T c.2454C>T (p.Phe818=) c.1869C>T (p.Phe623=) c.2580C>T (p.Phe860=) c.1806C>T (p.Phe602=) c.1773C>T (p.Phe591=) n.2807C>T c.1986C>T (p.Phe662=) n.2801C>T | gnomAD v4 |
| X | g.53248212G>C | CA413157338 | IQSEC2 | c.2643C>G (p.Phe881Leu) c.436C>G c.2484C>G (p.Phe828Leu) n.235C>G c.2454C>G (p.Phe818Leu) c.1869C>G (p.Phe623Leu) c.2580C>G (p.Phe860Leu) c.1806C>G (p.Phe602Leu) c.1773C>G (p.Phe591Leu) n.2807C>G c.1986C>G (p.Phe662Leu) n.2801C>G | gnomAD v4 |
| X | g.53248212G>T | CA413157340 | IQSEC2 | c.2643C>A (p.Phe881Leu) c.436C>A c.2484C>A (p.Phe828Leu) n.235C>A c.2454C>A (p.Phe818Leu) c.1869C>A (p.Phe623Leu) c.2580C>A (p.Phe860Leu) c.1806C>A (p.Phe602Leu) c.1773C>A (p.Phe591Leu) n.2807C>A c.1986C>A (p.Phe662Leu) n.2801C>A | |
| X | g.53248213A>C | CA413157347 | IQSEC2 | c.2642T>G (p.Phe881Cys) c.435T>G c.2483T>G (p.Phe828Cys) n.234T>G c.2453T>G (p.Phe818Cys) c.1868T>G (p.Phe623Cys) c.2579T>G (p.Phe860Cys) c.1805T>G (p.Phe602Cys) c.1772T>G (p.Phe591Cys) n.2806T>G c.1985T>G (p.Phe662Cys) n.2800T>G | |
| X | g.53248213A>G | CA413157349 | IQSEC2 | c.2642T>C (p.Phe881Ser) c.435T>C c.2483T>C (p.Phe828Ser) n.234T>C c.2453T>C (p.Phe818Ser) c.1868T>C (p.Phe623Ser) c.2579T>C (p.Phe860Ser) c.1805T>C (p.Phe602Ser) c.1772T>C (p.Phe591Ser) n.2806T>C c.1985T>C (p.Phe662Ser) n.2800T>C | |
| X | g.53248213A>T | CA413157351 | IQSEC2 | c.2642T>A (p.Phe881Tyr) c.435T>A c.2483T>A (p.Phe828Tyr) n.234T>A c.2453T>A (p.Phe818Tyr) c.1868T>A (p.Phe623Tyr) c.2579T>A (p.Phe860Tyr) c.1805T>A (p.Phe602Tyr) c.1772T>A (p.Phe591Tyr) n.2806T>A c.1985T>A (p.Phe662Tyr) n.2800T>A | |
| X | g.53248214A>C | CA413157356 | IQSEC2 | c.2641T>G (p.Phe881Val) c.434T>G c.2482T>G (p.Phe828Val) n.233T>G c.2452T>G (p.Phe818Val) c.1867T>G (p.Phe623Val) c.2578T>G (p.Phe860Val) c.1804T>G (p.Phe602Val) c.1771T>G (p.Phe591Val) n.2805T>G c.1984T>G (p.Phe662Val) n.2799T>G | |
| X | g.53248214A>G | CA413157359 | IQSEC2 | c.2641T>C (p.Phe881Leu) c.434T>C c.2482T>C (p.Phe828Leu) n.233T>C c.2452T>C (p.Phe818Leu) c.1867T>C (p.Phe623Leu) c.2578T>C (p.Phe860Leu) c.1804T>C (p.Phe602Leu) c.1771T>C (p.Phe591Leu) n.2805T>C c.1984T>C (p.Phe662Leu) n.2799T>C | |
| X | g.53248214A>T | CA413157362 | IQSEC2 | c.2641T>A (p.Phe881Ile) c.434T>A c.2482T>A (p.Phe828Ile) n.233T>A c.2452T>A (p.Phe818Ile) c.1867T>A (p.Phe623Ile) c.2578T>A (p.Phe860Ile) c.1804T>A (p.Phe602Ile) c.1771T>A (p.Phe591Ile) n.2805T>A c.1984T>A (p.Phe662Ile) n.2799T>A | |
| X | g.53248215G>A | CA516428309 | IQSEC2 | c.2640C>T (p.Asp880=) c.433C>T c.2481C>T (p.Asp827=) n.232C>T c.2451C>T (p.Asp817=) c.1866C>T (p.Asp622=) c.2577C>T (p.Asp859=) c.1803C>T (p.Asp601=) c.1770C>T (p.Asp590=) n.2804C>T c.1983C>T (p.Asp661=) n.2798C>T | |
| X | g.53248215G>C | CA413157366 | IQSEC2 | c.2640C>G (p.Asp880Glu) c.433C>G c.2481C>G (p.Asp827Glu) n.232C>G c.2451C>G (p.Asp817Glu) c.1866C>G (p.Asp622Glu) c.2577C>G (p.Asp859Glu) c.1803C>G (p.Asp601Glu) c.1770C>G (p.Asp590Glu) n.2804C>G c.1983C>G (p.Asp661Glu) n.2798C>G | |
| X | g.53248215G>T | CA413157369 | IQSEC2 | c.2640C>A (p.Asp880Glu) c.433C>A c.2481C>A (p.Asp827Glu) n.232C>A c.2451C>A (p.Asp817Glu) c.1866C>A (p.Asp622Glu) c.2577C>A (p.Asp859Glu) c.1803C>A (p.Asp601Glu) c.1770C>A (p.Asp590Glu) n.2804C>A c.1983C>A (p.Asp661Glu) n.2798C>A | |
| X | g.53248216T>A | CA413157373 | IQSEC2 | c.2639A>T (p.Asp880Val) c.432A>T c.2480A>T (p.Asp827Val) n.231A>T c.2450A>T (p.Asp817Val) c.1865A>T (p.Asp622Val) c.2576A>T (p.Asp859Val) c.1802A>T (p.Asp601Val) c.1769A>T (p.Asp590Val) n.2803A>T c.1982A>T (p.Asp661Val) n.2797A>T | |
| X | g.53248216T>C | CA413157376 | IQSEC2 | c.2639A>G (p.Asp880Gly) c.432A>G c.2480A>G (p.Asp827Gly) n.231A>G c.2450A>G (p.Asp817Gly) c.1865A>G (p.Asp622Gly) c.2576A>G (p.Asp859Gly) c.1802A>G (p.Asp601Gly) c.1769A>G (p.Asp590Gly) n.2803A>G c.1982A>G (p.Asp661Gly) n.2797A>G | |
| X | g.53248216T>G | CA413157379 | IQSEC2 | c.2639A>C (p.Asp880Ala) c.432A>C c.2480A>C (p.Asp827Ala) n.231A>C c.2450A>C (p.Asp817Ala) c.1865A>C (p.Asp622Ala) c.2576A>C (p.Asp859Ala) c.1802A>C (p.Asp601Ala) c.1769A>C (p.Asp590Ala) n.2803A>C c.1982A>C (p.Asp661Ala) n.2797A>C | |
| X | g.53248217C>A | CA413157388 | IQSEC2 | c.2638G>T (p.Asp880Tyr) c.431G>T c.2479G>T (p.Asp827Tyr) n.230G>T c.2449G>T (p.Asp817Tyr) c.1864G>T (p.Asp622Tyr) c.2575G>T (p.Asp859Tyr) c.1801G>T (p.Asp601Tyr) c.1768G>T (p.Asp590Tyr) n.2802G>T c.1981G>T (p.Asp661Tyr) n.2796G>T | |
| X | g.53248217C>G | CA413157382 | IQSEC2 | c.2638G>C (p.Asp880His) c.431G>C c.2479G>C (p.Asp827His) n.230G>C c.2449G>C (p.Asp817His) c.1864G>C (p.Asp622His) c.2575G>C (p.Asp859His) c.1801G>C (p.Asp601His) c.1768G>C (p.Asp590His) n.2802G>C c.1981G>C (p.Asp661His) n.2796G>C | |
| X | g.53248217C>T | CA413157385 | IQSEC2 | c.2638G>A (p.Asp880Asn) c.431G>A c.2479G>A (p.Asp827Asn) n.230G>A c.2449G>A (p.Asp817Asn) c.1864G>A (p.Asp622Asn) c.2575G>A (p.Asp859Asn) c.1801G>A (p.Asp601Asn) c.1768G>A (p.Asp590Asn) n.2802G>A c.1981G>A (p.Asp661Asn) n.2796G>A | |
| X | g.53248218C>A | CA413157394 | IQSEC2 | c.2637G>T (p.Met879Ile) c.430G>T c.2478G>T (p.Met826Ile) n.229G>T c.2448G>T (p.Met816Ile) c.1863G>T (p.Met621Ile) c.2574G>T (p.Met858Ile) c.1800G>T (p.Met600Ile) c.1767G>T (p.Met589Ile) n.2801G>T c.1980G>T (p.Met660Ile) n.2795G>T | gnomAD v4 |
| X | g.53248218C>G | CA413157395 | IQSEC2 | c.2637G>C (p.Met879Ile) c.430G>C c.2478G>C (p.Met826Ile) n.229G>C c.2448G>C (p.Met816Ile) c.1863G>C (p.Met621Ile) c.2574G>C (p.Met858Ile) c.1800G>C (p.Met600Ile) c.1767G>C (p.Met589Ile) n.2801G>C c.1980G>C (p.Met660Ile) n.2795G>C | |
| X | g.53248218C>T | CA413157400 | IQSEC2 | c.2637G>A (p.Met879Ile) c.430G>A c.2478G>A (p.Met826Ile) n.229G>A c.2448G>A (p.Met816Ile) c.1863G>A (p.Met621Ile) c.2574G>A (p.Met858Ile) c.1800G>A (p.Met600Ile) c.1767G>A (p.Met589Ile) n.2801G>A c.1980G>A (p.Met660Ile) n.2795G>A | |
| 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 | |
| X | g.53248235A>C | CA413157516 | IQSEC2 | c.2620T>G (p.Cys874Gly) c.413T>G c.2461T>G (p.Cys821Gly) n.212T>G c.2431T>G (p.Cys811Gly) c.1846T>G (p.Cys616Gly) c.2557T>G (p.Cys853Gly) c.1783T>G (p.Cys595Gly) c.1750T>G (p.Cys584Gly) n.2784T>G c.1963T>G (p.Cys655Gly) n.2778T>G | |
| X | g.53248235A>G | CA413157512 | IQSEC2 | c.2620T>C (p.Cys874Arg) c.413T>C c.2461T>C (p.Cys821Arg) n.212T>C c.2431T>C (p.Cys811Arg) c.1846T>C (p.Cys616Arg) c.2557T>C (p.Cys853Arg) c.1783T>C (p.Cys595Arg) c.1750T>C (p.Cys584Arg) n.2784T>C c.1963T>C (p.Cys655Arg) n.2778T>C | |
| X | g.53248235A>T | CA413157514 | IQSEC2 | c.2620T>A (p.Cys874Ser) c.413T>A c.2461T>A (p.Cys821Ser) n.212T>A c.2431T>A (p.Cys811Ser) c.1846T>A (p.Cys616Ser) c.2557T>A (p.Cys853Ser) c.1783T>A (p.Cys595Ser) c.1750T>A (p.Cys584Ser) n.2784T>A c.1963T>A (p.Cys655Ser) n.2778T>A | |
| X | g.53248236G>A | CA516428376 | IQSEC2 | c.2619C>T (p.Asp873=) c.412C>T c.2460C>T (p.Asp820=) n.211C>T c.2430C>T (p.Asp810=) c.1845C>T (p.Asp615=) c.2556C>T (p.Asp852=) c.1782C>T (p.Asp594=) c.1749C>T (p.Asp583=) n.2783C>T c.1962C>T (p.Asp654=) n.2777C>T | |
| X | g.53248236G>C | CA413157519 | IQSEC2 | c.2619C>G (p.Asp873Glu) c.412C>G c.2460C>G (p.Asp820Glu) n.211C>G c.2430C>G (p.Asp810Glu) c.1845C>G (p.Asp615Glu) c.2556C>G (p.Asp852Glu) c.1782C>G (p.Asp594Glu) c.1749C>G (p.Asp583Glu) n.2783C>G c.1962C>G (p.Asp654Glu) n.2777C>G | |
| X | g.53248236G>T | CA413157521 | IQSEC2 | c.2619C>A (p.Asp873Glu) c.412C>A c.2460C>A (p.Asp820Glu) n.211C>A c.2430C>A (p.Asp810Glu) c.1845C>A (p.Asp615Glu) c.2556C>A (p.Asp852Glu) c.1782C>A (p.Asp594Glu) c.1749C>A (p.Asp583Glu) n.2783C>A c.1962C>A (p.Asp654Glu) n.2777C>A | |
| X | g.53248237C>A | CA413157524 | IQSEC2 | c.2619-1G>T (n.2619-1G>T) c.412-1G>T c.2460-1G>T (n.2460-1G>T) n.210G>T c.2430-1G>T (n.2430-1G>T) c.1845-1G>T (n.1845-1G>T) c.2556-1G>T (n.2556-1G>T) c.1782-1G>T (n.1782-1G>T) c.1749-1G>T (n.1749-1G>T) n.2783-1G>T c.1962-1G>T (n.1962-1G>T) n.2777-1G>T | |
| X | g.53248237C>G | CA413157526 | IQSEC2 | c.2619-1G>C (n.2619-1G>C) c.412-1G>C c.2460-1G>C (n.2460-1G>C) n.210G>C c.2430-1G>C (n.2430-1G>C) c.1845-1G>C (n.1845-1G>C) c.2556-1G>C (n.2556-1G>C) c.1782-1G>C (n.1782-1G>C) c.1749-1G>C (n.1749-1G>C) n.2783-1G>C c.1962-1G>C (n.1962-1G>C) n.2777-1G>C | |
| X | g.53248237C>T | CA413157528 | IQSEC2 | c.2619-1G>A (n.2619-1G>A) c.412-1G>A c.2460-1G>A (n.2460-1G>A) n.210G>A c.2430-1G>A (n.2430-1G>A) c.1845-1G>A (n.1845-1G>A) c.2556-1G>A (n.2556-1G>A) c.1782-1G>A (n.1782-1G>A) c.1749-1G>A (n.1749-1G>A) n.2783-1G>A c.1962-1G>A (n.1962-1G>A) n.2777-1G>A | |
| X | g.53248238T>A | CA413157532 | IQSEC2 | c.2619-2A>T (n.2619-2A>T) c.412-2A>T c.2460-2A>T (n.2460-2A>T) n.209A>T c.2430-2A>T (n.2430-2A>T) c.1845-2A>T (n.1845-2A>T) c.2556-2A>T (n.2556-2A>T) c.1782-2A>T (n.1782-2A>T) c.1749-2A>T (n.1749-2A>T) n.2783-2A>T c.1962-2A>T (n.1962-2A>T) n.2777-2A>T | |
| X | g.53248238T>C | CA413157533 | IQSEC2 | c.2619-2A>G (n.2619-2A>G) c.412-2A>G c.2460-2A>G (n.2460-2A>G) n.209A>G c.2430-2A>G (n.2430-2A>G) c.1845-2A>G (n.1845-2A>G) c.2556-2A>G (n.2556-2A>G) c.1782-2A>G (n.1782-2A>G) c.1749-2A>G (n.1749-2A>G) n.2783-2A>G c.1962-2A>G (n.1962-2A>G) n.2777-2A>G | ClinVar dbSNP |
| X | g.53248238T>G | CA413157534 | IQSEC2 | c.2619-2A>C (n.2619-2A>C) c.412-2A>C c.2460-2A>C (n.2460-2A>C) n.209A>C c.2430-2A>C (n.2430-2A>C) c.1845-2A>C (n.1845-2A>C) c.2556-2A>C (n.2556-2A>C) c.1782-2A>C (n.1782-2A>C) c.1749-2A>C (n.1749-2A>C) n.2783-2A>C c.1962-2A>C (n.1962-2A>C) n.2777-2A>C | |
| X | g.53248238T= | CA2429774936 | IQSEC2 | c.2619-2A= (n.2619-2A=) c.412-2A= c.2460-2A= (n.2460-2A=) n.209A= c.2430-2A= (n.2430-2A=) c.1845-2A= (n.1845-2A=) c.2556-2A= (n.2556-2A=) c.1782-2A= (n.1782-2A=) c.1749-2A= (n.1749-2A=) n.2783-2A= c.1962-2A= (n.1962-2A=) n.2777-2A= | |
| X | g.53248242G>T | CA2693789503 | IQSEC2 | c.2619-6C>A (n.2619-6C>A) c.412-6C>A c.2460-6C>A (n.2460-6C>A) n.205C>A c.2430-6C>A (n.2430-6C>A) c.1845-6C>A (n.1845-6C>A) c.2556-6C>A (n.2556-6C>A) c.1782-6C>A (n.1782-6C>A) c.1749-6C>A (n.1749-6C>A) n.2783-6C>A c.1962-6C>A (n.1962-6C>A) n.2777-6C>A | gnomAD v4 |
| X | g.53248243A>G | CA2546101917 | IQSEC2 | c.2619-7T>C (n.2619-7T>C) c.412-7T>C c.2460-7T>C (n.2460-7T>C) n.204T>C c.2430-7T>C (n.2430-7T>C) c.1845-7T>C (n.1845-7T>C) c.2556-7T>C (n.2556-7T>C) c.1782-7T>C (n.1782-7T>C) c.1749-7T>C (n.1749-7T>C) n.2783-7T>C c.1962-7T>C (n.1962-7T>C) n.2777-7T>C | |
| X | g.53248243A>T | CA2693789508 | IQSEC2 | c.2619-7T>A (n.2619-7T>A) c.412-7T>A c.2460-7T>A (n.2460-7T>A) n.204T>A c.2430-7T>A (n.2430-7T>A) c.1845-7T>A (n.1845-7T>A) c.2556-7T>A (n.2556-7T>A) c.1782-7T>A (n.1782-7T>A) c.1749-7T>A (n.1749-7T>A) n.2783-7T>A c.1962-7T>A (n.1962-7T>A) n.2777-7T>A | gnomAD v4 |
| X | g.53248244G>C | CA2820946570 | IQSEC2 | c.2619-8C>G (n.2619-8C>G) c.412-8C>G c.2460-8C>G (n.2460-8C>G) n.203C>G c.2430-8C>G (n.2430-8C>G) c.1845-8C>G (n.1845-8C>G) c.2556-8C>G (n.2556-8C>G) c.1782-8C>G (n.1782-8C>G) c.1749-8C>G (n.1749-8C>G) n.2783-8C>G c.1962-8C>G (n.1962-8C>G) n.2777-8C>G | |
| X | g.53248244G>T | CA2693789513 | IQSEC2 | c.2619-8C>A (n.2619-8C>A) c.412-8C>A c.2460-8C>A (n.2460-8C>A) n.203C>A c.2430-8C>A (n.2430-8C>A) c.1845-8C>A (n.1845-8C>A) c.2556-8C>A (n.2556-8C>A) c.1782-8C>A (n.1782-8C>A) c.1749-8C>A (n.1749-8C>A) n.2783-8C>A c.1962-8C>A (n.1962-8C>A) n.2777-8C>A | gnomAD v4 |
| X | g.53248245C= | CA2429774937 | IQSEC2 | c.2619-9G= (n.2619-9G=) c.412-9G= c.2460-9G= (n.2460-9G=) n.202G= c.2430-9G= (n.2430-9G=) c.1845-9G= (n.1845-9G=) c.2556-9G= (n.2556-9G=) c.1782-9G= (n.1782-9G=) c.1749-9G= (n.1749-9G=) n.2783-9G= c.1962-9G= (n.1962-9G=) n.2777-9G= | |
| X | g.53248245C>G | CA641551349 | IQSEC2 | c.2619-9G>C (n.2619-9G>C) c.412-9G>C c.2460-9G>C (n.2460-9G>C) n.202G>C c.2430-9G>C (n.2430-9G>C) c.1845-9G>C (n.1845-9G>C) c.2556-9G>C (n.2556-9G>C) c.1782-9G>C (n.1782-9G>C) c.1749-9G>C (n.1749-9G>C) n.2783-9G>C c.1962-9G>C (n.1962-9G>C) n.2777-9G>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53248245C>T | CA1133162677 | IQSEC2 | c.2619-9G>A (n.2619-9G>A) c.412-9G>A c.2460-9G>A (n.2460-9G>A) n.202G>A c.2430-9G>A (n.2430-9G>A) c.1845-9G>A (n.1845-9G>A) c.2556-9G>A (n.2556-9G>A) c.1782-9G>A (n.1782-9G>A) c.1749-9G>A (n.1749-9G>A) n.2783-9G>A c.1962-9G>A (n.1962-9G>A) n.2777-9G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53248246A= | CA2429774938 | IQSEC2 | c.2619-10T= (n.2619-10T=) c.412-10T= c.2460-10T= (n.2460-10T=) n.201T= c.2430-10T= (n.2430-10T=) c.1845-10T= (n.1845-10T=) c.2556-10T= (n.2556-10T=) c.1782-10T= (n.1782-10T=) c.1749-10T= (n.1749-10T=) n.2783-10T= c.1962-10T= (n.1962-10T=) n.2777-10T= | |
| X | g.53248246A>C | CA10419930 | IQSEC2 | c.2619-10T>G (n.2619-10T>G) c.412-10T>G c.2460-10T>G (n.2460-10T>G) n.201T>G c.2430-10T>G (n.2430-10T>G) c.1845-10T>G (n.1845-10T>G) c.2556-10T>G (n.2556-10T>G) c.1782-10T>G (n.1782-10T>G) c.1749-10T>G (n.1749-10T>G) n.2783-10T>G c.1962-10T>G (n.1962-10T>G) n.2777-10T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53248246A>G | CA2693789521 | IQSEC2 | c.2619-10T>C (n.2619-10T>C) c.412-10T>C c.2460-10T>C (n.2460-10T>C) n.201T>C c.2430-10T>C (n.2430-10T>C) c.1845-10T>C (n.1845-10T>C) c.2556-10T>C (n.2556-10T>C) c.1782-10T>C (n.1782-10T>C) c.1749-10T>C (n.1749-10T>C) n.2783-10T>C c.1962-10T>C (n.1962-10T>C) n.2777-10T>C | gnomAD v4 |
| X | g.53248250_53248252del | CA2693789525 | IQSEC2 | c.2619-13_2619-11del (n.2619-13_2619-11del) c.412-13_412-11del c.2460-13_2460-11del (n.2460-13_2460-11del) n.198_200del c.2430-13_2430-11del (n.2430-13_2430-11del) c.1845-13_1845-11del (n.1845-13_1845-11del) c.2556-13_2556-11del (n.2556-13_2556-11del) c.1782-13_1782-11del (n.1782-13_1782-11del) c.1749-13_1749-11del (n.1749-13_1749-11del) n.2783-13_2783-11del c.1962-13_1962-11del (n.1962-13_1962-11del) n.2777-13_2777-11del | gnomAD v4 |
| X | g.53248251A= | CA2429774939 | IQSEC2 | c.2619-15T= (n.2619-15T=) c.412-15T= c.2460-15T= (n.2460-15T=) n.196T= c.2430-15T= (n.2430-15T=) c.1845-15T= (n.1845-15T=) c.2556-15T= (n.2556-15T=) c.1782-15T= (n.1782-15T=) c.1749-15T= (n.1749-15T=) n.2783-15T= c.1962-15T= (n.1962-15T=) n.2777-15T= | |
| X | g.53248251A>G | CA876275939 | IQSEC2 | c.2619-15T>C (n.2619-15T>C) c.412-15T>C c.2460-15T>C (n.2460-15T>C) n.196T>C c.2430-15T>C (n.2430-15T>C) c.1845-15T>C (n.1845-15T>C) c.2556-15T>C (n.2556-15T>C) c.1782-15T>C (n.1782-15T>C) c.1749-15T>C (n.1749-15T>C) n.2783-15T>C c.1962-15T>C (n.1962-15T>C) n.2777-15T>C | ClinVar dbSNP gnomAD v4 |
| X | g.53248254_53248256del | CA2693789528 | IQSEC2 | c.2619-17_2619-15del (n.2619-17_2619-15del) c.412-17_412-15del c.2460-17_2460-15del (n.2460-17_2460-15del) n.194_196del c.2430-17_2430-15del (n.2430-17_2430-15del) c.1845-17_1845-15del (n.1845-17_1845-15del) c.2556-17_2556-15del (n.2556-17_2556-15del) c.1782-17_1782-15del (n.1782-17_1782-15del) c.1749-17_1749-15del (n.1749-17_1749-15del) n.2783-17_2783-15del c.1962-17_1962-15del (n.1962-17_1962-15del) n.2777-17_2777-15del | gnomAD v4 |
| X | g.53248252G>A | CA2579614600 | IQSEC2 | c.2619-16C>T (n.2619-16C>T) c.412-16C>T c.2460-16C>T (n.2460-16C>T) n.195C>T c.2430-16C>T (n.2430-16C>T) c.1845-16C>T (n.1845-16C>T) c.2556-16C>T (n.2556-16C>T) c.1782-16C>T (n.1782-16C>T) c.1749-16C>T (n.1749-16C>T) n.2783-16C>T c.1962-16C>T (n.1962-16C>T) n.2777-16C>T | |
| X | g.53248254_53248255delinsAG | CA2429774940 | IQSEC2 | c.2619-19_2619-18delinsCT (n.2619-19_2619-18delinsCT) c.412-19_412-18delinsCT c.2460-19_2460-18delinsCT (n.2460-19_2460-18delinsCT) n.192_193delinsCT c.2430-19_2430-18delinsCT (n.2430-19_2430-18delinsCT) c.1845-19_1845-18delinsCT (n.1845-19_1845-18delinsCT) c.2556-19_2556-18delinsCT (n.2556-19_2556-18delinsCT) c.1782-19_1782-18delinsCT (n.1782-19_1782-18delinsCT) c.1749-19_1749-18delinsCT (n.1749-19_1749-18delinsCT) n.2783-19_2783-18delinsCT c.1962-19_1962-18delinsCT (n.1962-19_1962-18delinsCT) n.2777-19_2777-18delinsCT | |
| X | g.53248255G>A | CA2693789532 | IQSEC2 | c.2619-19C>T (n.2619-19C>T) c.412-19C>T c.2460-19C>T (n.2460-19C>T) n.192C>T c.2430-19C>T (n.2430-19C>T) c.1845-19C>T (n.1845-19C>T) c.2556-19C>T (n.2556-19C>T) c.1782-19C>T (n.1782-19C>T) c.1749-19C>T (n.1749-19C>T) n.2783-19C>T c.1962-19C>T (n.1962-19C>T) n.2777-19C>T | gnomAD v4 |
| X | g.53248256del | CA876275943 | IQSEC2 | c.2619-19del (n.2619-19del) c.412-19del c.2460-19del (n.2460-19del) n.192del c.2430-19del (n.2430-19del) c.1845-19del (n.1845-19del) c.2556-19del (n.2556-19del) c.1782-19del (n.1782-19del) c.1749-19del (n.1749-19del) n.2783-19del c.1962-19del (n.1962-19del) n.2777-19del | dbSNP |
| X | g.53248257T= | CA2429774941 | IQSEC2 | c.2619-21A= (n.2619-21A=) c.412-21A= c.2460-21A= (n.2460-21A=) n.190A= c.2430-21A= (n.2430-21A=) c.1845-21A= (n.1845-21A=) c.2556-21A= (n.2556-21A=) c.1782-21A= (n.1782-21A=) c.1749-21A= (n.1749-21A=) n.2783-21A= c.1962-21A= (n.1962-21A=) n.2777-21A= | |
| X | g.53248257_53248258insA | CA2429774942 | IQSEC2 | c.2619-22_2619-21insT (n.2619-22_2619-21insT) c.412-22_412-21insT c.2460-22_2460-21insT (n.2460-22_2460-21insT) n.189_190insT c.2430-22_2430-21insT (n.2430-22_2430-21insT) c.1845-22_1845-21insT (n.1845-22_1845-21insT) c.2556-22_2556-21insT (n.2556-22_2556-21insT) c.1782-22_1782-21insT (n.1782-22_1782-21insT) c.1749-22_1749-21insT (n.1749-22_1749-21insT) n.2783-22_2783-21insT c.1962-22_1962-21insT (n.1962-22_1962-21insT) n.2777-22_2777-21insT | dbSNP |
| X | g.53248258G>A | CA2693789536 | IQSEC2 | c.2619-22C>T (n.2619-22C>T) c.412-22C>T c.2460-22C>T (n.2460-22C>T) n.189C>T c.2430-22C>T (n.2430-22C>T) c.1845-22C>T (n.1845-22C>T) c.2556-22C>T (n.2556-22C>T) c.1782-22C>T (n.1782-22C>T) c.1749-22C>T (n.1749-22C>T) n.2783-22C>T c.1962-22C>T (n.1962-22C>T) n.2777-22C>T | gnomAD v4 |
| X | g.53248262C= | CA2429774943 | IQSEC2 | c.2619-26G= (n.2619-26G=) c.412-26G= c.2460-26G= (n.2460-26G=) n.185G= c.2430-26G= (n.2430-26G=) c.1845-26G= (n.1845-26G=) c.2556-26G= (n.2556-26G=) c.1782-26G= (n.1782-26G=) c.1749-26G= (n.1749-26G=) n.2783-26G= c.1962-26G= (n.1962-26G=) n.2777-26G= | |
| X | g.53248262C>T | CA10419931 | IQSEC2 | c.2619-26G>A (n.2619-26G>A) c.412-26G>A c.2460-26G>A (n.2460-26G>A) n.185G>A c.2430-26G>A (n.2430-26G>A) c.1845-26G>A (n.1845-26G>A) c.2556-26G>A (n.2556-26G>A) c.1782-26G>A (n.1782-26G>A) c.1749-26G>A (n.1749-26G>A) n.2783-26G>A c.1962-26G>A (n.1962-26G>A) n.2777-26G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53248263G>A | CA10419932 | IQSEC2 | c.2619-27C>T (n.2619-27C>T) c.412-27C>T c.2460-27C>T (n.2460-27C>T) n.184C>T c.2430-27C>T (n.2430-27C>T) c.1845-27C>T (n.1845-27C>T) c.2556-27C>T (n.2556-27C>T) c.1782-27C>T (n.1782-27C>T) c.1749-27C>T (n.1749-27C>T) n.2783-27C>T c.1962-27C>T (n.1962-27C>T) n.2777-27C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53248263G= | CA2429774944 | IQSEC2 | c.2619-27C= (n.2619-27C=) c.412-27C= c.2460-27C= (n.2460-27C=) n.184C= c.2430-27C= (n.2430-27C=) c.1845-27C= (n.1845-27C=) c.2556-27C= (n.2556-27C=) c.1782-27C= (n.1782-27C=) c.1749-27C= (n.1749-27C=) n.2783-27C= c.1962-27C= (n.1962-27C=) n.2777-27C= | |
| X | g.53248263G>T | CA2693789544 | IQSEC2 | c.2619-27C>A (n.2619-27C>A) c.412-27C>A c.2460-27C>A (n.2460-27C>A) n.184C>A c.2430-27C>A (n.2430-27C>A) c.1845-27C>A (n.1845-27C>A) c.2556-27C>A (n.2556-27C>A) c.1782-27C>A (n.1782-27C>A) c.1749-27C>A (n.1749-27C>A) n.2783-27C>A c.1962-27C>A (n.1962-27C>A) n.2777-27C>A | gnomAD v4 |