| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53248105_53248120del | CA658824141 | IQSEC2 | c.2738_2741+12del c.531_534+12del c.40_43+12del c.2579_2582+12del n.330_333+12del c.2549_2552+12del c.1964_1967+12del c.2675_2678+12del c.1901_1904+12del c.1868_1871+12del n.2902_2905+12del c.2081_2084+12del n.2896_2899+12del | ClinVar dbSNP |
| X | g.53248119G>A | CA10419922 | IQSEC2 | c.2736C>T (p.Ala912=) c.529C>T c.38C>T c.2577C>T (p.Ala859=) n.328C>T c.2547C>T (p.Ala849=) c.1962C>T (p.Ala654=) c.2673C>T (p.Ala891=) c.1899C>T (p.Ala633=) c.1866C>T (p.Ala622=) n.2900C>T c.2079C>T (p.Ala693=) n.2894C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53248119G>C | CA516428072 | IQSEC2 | c.2736C>G (p.Ala912=) c.529C>G c.38C>G c.2577C>G (p.Ala859=) n.328C>G c.2547C>G (p.Ala849=) c.1962C>G (p.Ala654=) c.2673C>G (p.Ala891=) c.1899C>G (p.Ala633=) c.1866C>G (p.Ala622=) n.2900C>G c.2079C>G (p.Ala693=) n.2894C>G | |
| X | g.53248119G= | CA2429774914 | IQSEC2 | c.2736C= (p.Ala912=) c.529C= c.38C= c.2577C= (p.Ala859=) n.328C= c.2547C= (p.Ala849=) c.1962C= (p.Ala654=) c.2673C= (p.Ala891=) c.1899C= (p.Ala633=) c.1866C= (p.Ala622=) n.2900C= c.2079C= (p.Ala693=) n.2894C= | |
| X | g.53248119G>T | CA516428070 | IQSEC2 | c.2736C>A (p.Ala912=) c.529C>A c.38C>A c.2577C>A (p.Ala859=) n.328C>A c.2547C>A (p.Ala849=) c.1962C>A (p.Ala654=) c.2673C>A (p.Ala891=) c.1899C>A (p.Ala633=) c.1866C>A (p.Ala622=) n.2900C>A c.2079C>A (p.Ala693=) n.2894C>A | |
| X | g.53248120G>A | CA413156810 | IQSEC2 | c.2735C>T (p.Ala912Val) c.528C>T c.37C>T c.2576C>T (p.Ala859Val) n.327C>T c.2546C>T (p.Ala849Val) c.1961C>T (p.Ala654Val) c.2672C>T (p.Ala891Val) c.1898C>T (p.Ala633Val) c.1865C>T (p.Ala622Val) n.2899C>T c.2078C>T (p.Ala693Val) n.2893C>T | |
| X | g.53248120G>C | CA413156806 | IQSEC2 | c.2735C>G (p.Ala912Gly) c.528C>G c.37C>G c.2576C>G (p.Ala859Gly) n.327C>G c.2546C>G (p.Ala849Gly) c.1961C>G (p.Ala654Gly) c.2672C>G (p.Ala891Gly) c.1898C>G (p.Ala633Gly) c.1865C>G (p.Ala622Gly) n.2899C>G c.2078C>G (p.Ala693Gly) n.2893C>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53248120G= | CA2429774915 | IQSEC2 | c.2735C= (p.Ala912=) c.528C= c.37C= c.2576C= (p.Ala859=) n.327C= c.2546C= (p.Ala849=) c.1961C= (p.Ala654=) c.2672C= (p.Ala891=) c.1898C= (p.Ala633=) c.1865C= (p.Ala622=) n.2899C= c.2078C= (p.Ala693=) n.2893C= | |
| X | g.53248120G>T | CA413156808 | IQSEC2 | c.2735C>A (p.Ala912Asp) c.528C>A c.37C>A c.2576C>A (p.Ala859Asp) n.327C>A c.2546C>A (p.Ala849Asp) c.1961C>A (p.Ala654Asp) c.2672C>A (p.Ala891Asp) c.1898C>A (p.Ala633Asp) c.1865C>A (p.Ala622Asp) n.2899C>A c.2078C>A (p.Ala693Asp) n.2893C>A | ClinVar dbSNP |
| X | g.53248121C>A | CA413156813 | IQSEC2 | c.2734G>T (p.Ala912Ser) c.527G>T c.36G>T c.2575G>T (p.Ala859Ser) n.326G>T c.2545G>T (p.Ala849Ser) c.1960G>T (p.Ala654Ser) c.2671G>T (p.Ala891Ser) c.1897G>T (p.Ala633Ser) c.1864G>T (p.Ala622Ser) n.2898G>T c.2077G>T (p.Ala693Ser) n.2892G>T | |
| X | g.53248121C>G | CA413156816 | IQSEC2 | c.2734G>C (p.Ala912Pro) c.527G>C c.36G>C c.2575G>C (p.Ala859Pro) n.326G>C c.2545G>C (p.Ala849Pro) c.1960G>C (p.Ala654Pro) c.2671G>C (p.Ala891Pro) c.1897G>C (p.Ala633Pro) c.1864G>C (p.Ala622Pro) n.2898G>C c.2077G>C (p.Ala693Pro) n.2892G>C | |
| X | g.53248121C>T | CA413156818 | IQSEC2 | c.2734G>A (p.Ala912Thr) c.527G>A c.36G>A c.2575G>A (p.Ala859Thr) n.326G>A c.2545G>A (p.Ala849Thr) c.1960G>A (p.Ala654Thr) c.2671G>A (p.Ala891Thr) c.1897G>A (p.Ala633Thr) c.1864G>A (p.Ala622Thr) n.2898G>A c.2077G>A (p.Ala693Thr) n.2892G>A | |
| X | g.53248122_53248136del | CA2695233924 | IQSEC2 | c.2720_2734del (p.Glu907_Glu911del) c.513_527del c.22_36del c.2561_2575del (p.Glu854_Glu858del) n.312_326del c.2531_2545del (p.Glu844_Glu848del) c.1946_1960del (p.Glu649_Glu653del) c.2657_2671del (p.Glu886_Glu890del) c.1883_1897del (p.Glu628_Glu632del) c.1850_1864del (p.Glu617_Glu621del) n.2884_2898del c.2063_2077del (p.Glu688_Glu692del) n.2878_2892del | |
| X | g.53248122T>A | CA413156820 | IQSEC2 | c.2733A>T (p.Glu911Asp) c.526A>T c.35A>T c.2574A>T (p.Glu858Asp) n.325A>T c.2544A>T (p.Glu848Asp) c.1959A>T (p.Glu653Asp) c.2670A>T (p.Glu890Asp) c.1896A>T (p.Glu632Asp) c.1863A>T (p.Glu621Asp) n.2897A>T c.2076A>T (p.Glu692Asp) n.2891A>T | |
| X | g.53248122T>C | CA516428073 | IQSEC2 | c.2733A>G (p.Glu911=) c.526A>G c.35A>G c.2574A>G (p.Glu858=) n.325A>G c.2544A>G (p.Glu848=) c.1959A>G (p.Glu653=) c.2670A>G (p.Glu890=) c.1896A>G (p.Glu632=) c.1863A>G (p.Glu621=) n.2897A>G c.2076A>G (p.Glu692=) n.2891A>G | |
| X | g.53248122T>G | CA413156821 | IQSEC2 | c.2733A>C (p.Glu911Asp) c.526A>C c.35A>C c.2574A>C (p.Glu858Asp) n.325A>C c.2544A>C (p.Glu848Asp) c.1959A>C (p.Glu653Asp) c.2670A>C (p.Glu890Asp) c.1896A>C (p.Glu632Asp) c.1863A>C (p.Glu621Asp) n.2897A>C c.2076A>C (p.Glu692Asp) n.2891A>C | |
| X | g.53248123T>A | CA413156824 | IQSEC2 | c.2732A>T (p.Glu911Val) c.525A>T c.34A>T c.2573A>T (p.Glu858Val) n.324A>T c.2543A>T (p.Glu848Val) c.1958A>T (p.Glu653Val) c.2669A>T (p.Glu890Val) c.1895A>T (p.Glu632Val) c.1862A>T (p.Glu621Val) n.2896A>T c.2075A>T (p.Glu692Val) n.2890A>T | |
| X | g.53248123T>C | CA413156828 | IQSEC2 | c.2732A>G (p.Glu911Gly) c.525A>G c.34A>G c.2573A>G (p.Glu858Gly) n.324A>G c.2543A>G (p.Glu848Gly) c.1958A>G (p.Glu653Gly) c.2669A>G (p.Glu890Gly) c.1895A>G (p.Glu632Gly) c.1862A>G (p.Glu621Gly) n.2896A>G c.2075A>G (p.Glu692Gly) n.2890A>G | |
| X | g.53248123T>G | CA413156827 | IQSEC2 | c.2732A>C (p.Glu911Ala) c.525A>C c.34A>C c.2573A>C (p.Glu858Ala) n.324A>C c.2543A>C (p.Glu848Ala) c.1958A>C (p.Glu653Ala) c.2669A>C (p.Glu890Ala) c.1895A>C (p.Glu632Ala) c.1862A>C (p.Glu621Ala) n.2896A>C c.2075A>C (p.Glu692Ala) n.2890A>C | |
| X | g.53248124C>A | CA413156831 | IQSEC2 | c.2731G>T (p.Glu911Ter) c.524G>T c.33G>T c.2572G>T (p.Glu858Ter) n.323G>T c.2542G>T (p.Glu848Ter) c.1957G>T (p.Glu653Ter) c.2668G>T (p.Glu890Ter) c.1894G>T (p.Glu632Ter) c.1861G>T (p.Glu621Ter) n.2895G>T c.2074G>T (p.Glu692Ter) n.2889G>T | |
| X | g.53248124C= | CA2429774916 | IQSEC2 | c.2731G= (p.Glu911=) c.524G= c.33G= c.2572G= (p.Glu858=) n.323G= c.2542G= (p.Glu848=) c.1957G= (p.Glu653=) c.2668G= (p.Glu890=) c.1894G= (p.Glu632=) c.1861G= (p.Glu621=) n.2895G= c.2074G= (p.Glu692=) n.2889G= | |
| X | g.53248124C>G | CA413156832 | IQSEC2 | c.2731G>C (p.Glu911Gln) c.524G>C c.33G>C c.2572G>C (p.Glu858Gln) n.323G>C c.2542G>C (p.Glu848Gln) c.1957G>C (p.Glu653Gln) c.2668G>C (p.Glu890Gln) c.1894G>C (p.Glu632Gln) c.1861G>C (p.Glu621Gln) n.2895G>C c.2074G>C (p.Glu692Gln) n.2889G>C | |
| X | g.53248124C>T | CA413156834 | IQSEC2 | c.2731G>A (p.Glu911Lys) c.524G>A c.33G>A c.2572G>A (p.Glu858Lys) n.323G>A c.2542G>A (p.Glu848Lys) c.1957G>A (p.Glu653Lys) c.2668G>A (p.Glu890Lys) c.1894G>A (p.Glu632Lys) c.1861G>A (p.Glu621Lys) n.2895G>A c.2074G>A (p.Glu692Lys) n.2889G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.53248125G>A | CA10419924 | IQSEC2 | c.2730C>T (p.Ile910=) c.523C>T c.32C>T c.2571C>T (p.Ile857=) n.322C>T c.2541C>T (p.Ile847=) c.1956C>T (p.Ile652=) c.2667C>T (p.Ile889=) c.1893C>T (p.Ile631=) c.1860C>T (p.Ile620=) n.2894C>T c.2073C>T (p.Ile691=) n.2888C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53248125G>C | CA413156839 | IQSEC2 | c.2730C>G (p.Ile910Met) c.523C>G c.32C>G c.2571C>G (p.Ile857Met) n.322C>G c.2541C>G (p.Ile847Met) c.1956C>G (p.Ile652Met) c.2667C>G (p.Ile889Met) c.1893C>G (p.Ile631Met) c.1860C>G (p.Ile620Met) n.2894C>G c.2073C>G (p.Ile691Met) n.2888C>G | |
| X | g.53248125G= | CA2429774917 | IQSEC2 | c.2730C= (p.Ile910=) c.523C= c.32C= c.2571C= (p.Ile857=) n.322C= c.2541C= (p.Ile847=) c.1956C= (p.Ile652=) c.2667C= (p.Ile889=) c.1893C= (p.Ile631=) c.1860C= (p.Ile620=) n.2894C= c.2073C= (p.Ile691=) n.2888C= | |
| X | g.53248125G>T | CA10419923 | IQSEC2 | c.2730C>A (p.Ile910=) c.523C>A c.32C>A c.2571C>A (p.Ile857=) n.322C>A c.2541C>A (p.Ile847=) c.1956C>A (p.Ile652=) c.2667C>A (p.Ile889=) c.1893C>A (p.Ile631=) c.1860C>A (p.Ile620=) n.2894C>A c.2073C>A (p.Ile691=) n.2888C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53248126A>C | CA413156842 | IQSEC2 | c.2729T>G (p.Ile910Ser) c.522T>G c.31T>G c.2570T>G (p.Ile857Ser) n.321T>G c.2540T>G (p.Ile847Ser) c.1955T>G (p.Ile652Ser) c.2666T>G (p.Ile889Ser) c.1892T>G (p.Ile631Ser) c.1859T>G (p.Ile620Ser) n.2893T>G c.2072T>G (p.Ile691Ser) n.2887T>G | |
| X | g.53248126A>G | CA413156845 | IQSEC2 | c.2729T>C (p.Ile910Thr) c.522T>C c.31T>C c.2570T>C (p.Ile857Thr) n.321T>C c.2540T>C (p.Ile847Thr) c.1955T>C (p.Ile652Thr) c.2666T>C (p.Ile889Thr) c.1892T>C (p.Ile631Thr) c.1859T>C (p.Ile620Thr) n.2893T>C c.2072T>C (p.Ile691Thr) n.2887T>C | |
| X | g.53248126A>T | CA413156847 | IQSEC2 | c.2729T>A (p.Ile910Asn) c.522T>A c.31T>A c.2570T>A (p.Ile857Asn) n.321T>A c.2540T>A (p.Ile847Asn) c.1955T>A (p.Ile652Asn) c.2666T>A (p.Ile889Asn) c.1892T>A (p.Ile631Asn) c.1859T>A (p.Ile620Asn) n.2893T>A c.2072T>A (p.Ile691Asn) n.2887T>A | |
| X | g.53248127T>A | CA413156850 | IQSEC2 | c.2728A>T (p.Ile910Phe) c.521A>T c.30A>T c.2569A>T (p.Ile857Phe) n.320A>T c.2539A>T (p.Ile847Phe) c.1954A>T (p.Ile652Phe) c.2665A>T (p.Ile889Phe) c.1891A>T (p.Ile631Phe) c.1858A>T (p.Ile620Phe) n.2892A>T c.2071A>T (p.Ile691Phe) n.2886A>T | |
| X | g.53248127T>C | CA413156851 | IQSEC2 | c.2728A>G (p.Ile910Val) c.521A>G c.30A>G c.2569A>G (p.Ile857Val) n.320A>G c.2539A>G (p.Ile847Val) c.1954A>G (p.Ile652Val) c.2665A>G (p.Ile889Val) c.1891A>G (p.Ile631Val) c.1858A>G (p.Ile620Val) n.2892A>G c.2071A>G (p.Ile691Val) n.2886A>G | |
| X | g.53248127T>G | CA413156853 | IQSEC2 | c.2728A>C (p.Ile910Leu) c.521A>C c.30A>C c.2569A>C (p.Ile857Leu) n.320A>C c.2539A>C (p.Ile847Leu) c.1954A>C (p.Ile652Leu) c.2665A>C (p.Ile889Leu) c.1891A>C (p.Ile631Leu) c.1858A>C (p.Ile620Leu) n.2892A>C c.2071A>C (p.Ile691Leu) n.2886A>C | |
| X | g.53248128G>A | CA516428080 | IQSEC2 | c.2727C>T (p.Leu909=) c.520C>T c.29C>T c.2568C>T (p.Leu856=) n.319C>T c.2538C>T (p.Leu846=) c.1953C>T (p.Leu651=) c.2664C>T (p.Leu888=) c.1890C>T (p.Leu630=) c.1857C>T (p.Leu619=) n.2891C>T c.2070C>T (p.Leu690=) n.2885C>T | |
| X | g.53248128G>C | CA516428078 | IQSEC2 | c.2727C>G (p.Leu909=) c.520C>G c.29C>G c.2568C>G (p.Leu856=) n.319C>G c.2538C>G (p.Leu846=) c.1953C>G (p.Leu651=) c.2664C>G (p.Leu888=) c.1890C>G (p.Leu630=) c.1857C>G (p.Leu619=) n.2891C>G c.2070C>G (p.Leu690=) n.2885C>G | |
| X | g.53248128G>T | CA516428079 | IQSEC2 | c.2727C>A (p.Leu909=) c.520C>A c.29C>A c.2568C>A (p.Leu856=) n.319C>A c.2538C>A (p.Leu846=) c.1953C>A (p.Leu651=) c.2664C>A (p.Leu888=) c.1890C>A (p.Leu630=) c.1857C>A (p.Leu619=) n.2891C>A c.2070C>A (p.Leu690=) n.2885C>A | |
| X | g.53248129A>C | CA413156858 | IQSEC2 | c.2726T>G (p.Leu909Arg) c.519T>G c.28T>G c.2567T>G (p.Leu856Arg) n.318T>G c.2537T>G (p.Leu846Arg) c.1952T>G (p.Leu651Arg) c.2663T>G (p.Leu888Arg) c.1889T>G (p.Leu630Arg) c.1856T>G (p.Leu619Arg) n.2890T>G c.2069T>G (p.Leu690Arg) n.2884T>G | |
| X | g.53248129A>G | CA413156863 | IQSEC2 | c.2726T>C (p.Leu909Pro) c.519T>C c.28T>C c.2567T>C (p.Leu856Pro) n.318T>C c.2537T>C (p.Leu846Pro) c.1952T>C (p.Leu651Pro) c.2663T>C (p.Leu888Pro) c.1889T>C (p.Leu630Pro) c.1856T>C (p.Leu619Pro) n.2890T>C c.2069T>C (p.Leu690Pro) n.2884T>C | |
| X | g.53248129A>T | CA413156860 | IQSEC2 | c.2726T>A (p.Leu909His) c.519T>A c.28T>A c.2567T>A (p.Leu856His) n.318T>A c.2537T>A (p.Leu846His) c.1952T>A (p.Leu651His) c.2663T>A (p.Leu888His) c.1889T>A (p.Leu630His) c.1856T>A (p.Leu619His) n.2890T>A c.2069T>A (p.Leu690His) n.2884T>A | |
| X | g.53248130G>A | CA413156866 | IQSEC2 | c.2725C>T (p.Leu909Phe) c.518C>T c.27C>T c.2566C>T (p.Leu856Phe) n.317C>T c.2536C>T (p.Leu846Phe) c.1951C>T (p.Leu651Phe) c.2662C>T (p.Leu888Phe) c.1888C>T (p.Leu630Phe) c.1855C>T (p.Leu619Phe) n.2889C>T c.2068C>T (p.Leu690Phe) n.2883C>T | |
| X | g.53248130G>C | CA413156870 | IQSEC2 | c.2725C>G (p.Leu909Val) c.518C>G c.27C>G c.2566C>G (p.Leu856Val) n.317C>G c.2536C>G (p.Leu846Val) c.1951C>G (p.Leu651Val) c.2662C>G (p.Leu888Val) c.1888C>G (p.Leu630Val) c.1855C>G (p.Leu619Val) n.2889C>G c.2068C>G (p.Leu690Val) n.2883C>G | |
| X | g.53248130G>T | CA413156868 | IQSEC2 | c.2725C>A (p.Leu909Ile) c.518C>A c.27C>A c.2566C>A (p.Leu856Ile) n.317C>A c.2536C>A (p.Leu846Ile) c.1951C>A (p.Leu651Ile) c.2662C>A (p.Leu888Ile) c.1888C>A (p.Leu630Ile) c.1855C>A (p.Leu619Ile) n.2889C>A c.2068C>A (p.Leu690Ile) n.2883C>A | COSMIC COSMIC COSMIC |
| X | g.53248131T>A | CA516428084 | IQSEC2 | c.2724A>T (p.Arg908=) c.517A>T c.26A>T c.2565A>T (p.Arg855=) n.316A>T c.2535A>T (p.Arg845=) c.1950A>T (p.Arg650=) c.2661A>T (p.Arg887=) c.1887A>T (p.Arg629=) c.1854A>T (p.Arg618=) n.2888A>T c.2067A>T (p.Arg689=) n.2882A>T | |
| X | g.53248131T>C | CA516428085 | IQSEC2 | c.2724A>G (p.Arg908=) c.517A>G c.26A>G c.2565A>G (p.Arg855=) n.316A>G c.2535A>G (p.Arg845=) c.1950A>G (p.Arg650=) c.2661A>G (p.Arg887=) c.1887A>G (p.Arg629=) c.1854A>G (p.Arg618=) n.2888A>G c.2067A>G (p.Arg689=) n.2882A>G | |
| X | g.53248131T>G | CA516428086 | IQSEC2 | c.2724A>C (p.Arg908=) c.517A>C c.26A>C c.2565A>C (p.Arg855=) n.316A>C c.2535A>C (p.Arg845=) c.1950A>C (p.Arg650=) c.2661A>C (p.Arg887=) c.1887A>C (p.Arg629=) c.1854A>C (p.Arg618=) n.2888A>C c.2067A>C (p.Arg689=) n.2882A>C | dbSNP gnomAD v4 |
| X | g.53248131T= | CA2429774918 | IQSEC2 | c.2724A= (p.Arg908=) c.517A= c.26A= c.2565A= (p.Arg855=) n.316A= c.2535A= (p.Arg845=) c.1950A= (p.Arg650=) c.2661A= (p.Arg887=) c.1887A= (p.Arg629=) c.1854A= (p.Arg618=) n.2888A= c.2067A= (p.Arg689=) n.2882A= | |
| X | g.53248132C>A | CA413156872 | IQSEC2 | c.2723G>T (p.Arg908Leu) c.516G>T c.25G>T c.2564G>T (p.Arg855Leu) n.315G>T c.2534G>T (p.Arg845Leu) c.1949G>T (p.Arg650Leu) c.2660G>T (p.Arg887Leu) c.1886G>T (p.Arg629Leu) c.1853G>T (p.Arg618Leu) n.2887G>T c.2066G>T (p.Arg689Leu) n.2881G>T | |
| X | g.53248132C= | CA2429774919 | IQSEC2 | c.2723G= (p.Arg908=) c.516G= c.25G= c.2564G= (p.Arg855=) n.315G= c.2534G= (p.Arg845=) c.1949G= (p.Arg650=) c.2660G= (p.Arg887=) c.1886G= (p.Arg629=) c.1853G= (p.Arg618=) n.2887G= c.2066G= (p.Arg689=) n.2881G= | |
| X | g.53248132C>G | CA413156873 | IQSEC2 | c.2723G>C (p.Arg908Pro) c.516G>C c.25G>C c.2564G>C (p.Arg855Pro) n.315G>C c.2534G>C (p.Arg845Pro) c.1949G>C (p.Arg650Pro) c.2660G>C (p.Arg887Pro) c.1886G>C (p.Arg629Pro) c.1853G>C (p.Arg618Pro) n.2887G>C c.2066G>C (p.Arg689Pro) n.2881G>C | |
| X | g.53248132C>T | CA413156875 | IQSEC2 | c.2723G>A (p.Arg908Gln) c.516G>A c.25G>A c.2564G>A (p.Arg855Gln) n.315G>A c.2534G>A (p.Arg845Gln) c.1949G>A (p.Arg650Gln) c.2660G>A (p.Arg887Gln) c.1886G>A (p.Arg629Gln) c.1853G>A (p.Arg618Gln) n.2887G>A c.2066G>A (p.Arg689Gln) n.2881G>A | dbSNP gnomAD v4 |