Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53241824A= | CA2429772811 | IQSEC2 | c.3134T= (p.Leu1045=) c.927T= c.436T= c.265T= c.38T= (p.Leu13=) c.2975T= (p.Leu992=) n.1282T= c.2945T= (p.Leu982=) c.2360T= (p.Leu787=) c.3071T= (p.Leu1024=) c.2297T= (p.Leu766=) c.2264T= (p.Leu755=) n.3298T= c.2477T= (p.Leu826=) n.3292T= | |
X | g.53241824A>C | CA413149055 | IQSEC2 | c.3134T>G (p.Leu1045Trp) c.927T>G c.436T>G c.265T>G c.38T>G (p.Leu13Trp) c.2975T>G (p.Leu992Trp) n.1282T>G c.2945T>G (p.Leu982Trp) c.2360T>G (p.Leu787Trp) c.3071T>G (p.Leu1024Trp) c.2297T>G (p.Leu766Trp) c.2264T>G (p.Leu755Trp) n.3298T>G c.2477T>G (p.Leu826Trp) n.3292T>G | |
X | g.53241824A>G | CA413149063 | IQSEC2 | c.3134T>C (p.Leu1045Ser) c.927T>C c.436T>C c.265T>C c.38T>C (p.Leu13Ser) c.2975T>C (p.Leu992Ser) n.1282T>C c.2945T>C (p.Leu982Ser) c.2360T>C (p.Leu787Ser) c.3071T>C (p.Leu1024Ser) c.2297T>C (p.Leu766Ser) c.2264T>C (p.Leu755Ser) n.3298T>C c.2477T>C (p.Leu826Ser) n.3292T>C | |
X | g.53241824A>T | CA10419867 | IQSEC2 | c.3134T>A (p.Leu1045Ter) c.927T>A c.436T>A c.265T>A c.38T>A (p.Leu13Ter) c.2975T>A (p.Leu992Ter) n.1282T>A c.2945T>A (p.Leu982Ter) c.2360T>A (p.Leu787Ter) c.3071T>A (p.Leu1024Ter) c.2297T>A (p.Leu766Ter) c.2264T>A (p.Leu755Ter) n.3298T>A c.2477T>A (p.Leu826Ter) n.3292T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53241825A>C | CA413149068 | IQSEC2 | c.3133T>G (p.Leu1045Val) c.926T>G c.435T>G c.264T>G c.37T>G (p.Leu13Val) c.2974T>G (p.Leu992Val) n.1281T>G c.2944T>G (p.Leu982Val) c.2359T>G (p.Leu787Val) c.3070T>G (p.Leu1024Val) c.2296T>G (p.Leu766Val) c.2263T>G (p.Leu755Val) n.3297T>G c.2476T>G (p.Leu826Val) n.3291T>G | |
X | g.53241825A>G | CA516424779 | IQSEC2 | c.3133T>C (p.Leu1045=) c.926T>C c.435T>C c.264T>C c.37T>C (p.Leu13=) c.2974T>C (p.Leu992=) n.1281T>C c.2944T>C (p.Leu982=) c.2359T>C (p.Leu787=) c.3070T>C (p.Leu1024=) c.2296T>C (p.Leu766=) c.2263T>C (p.Leu755=) n.3297T>C c.2476T>C (p.Leu826=) n.3291T>C | |
X | g.53241825A>T | CA413149072 | IQSEC2 | c.3133T>A (p.Leu1045Met) c.926T>A c.435T>A c.264T>A c.37T>A (p.Leu13Met) c.2974T>A (p.Leu992Met) n.1281T>A c.2944T>A (p.Leu982Met) c.2359T>A (p.Leu787Met) c.3070T>A (p.Leu1024Met) c.2296T>A (p.Leu766Met) c.2263T>A (p.Leu755Met) n.3297T>A c.2476T>A (p.Leu826Met) n.3291T>A | |
X | g.53241826C>A | CA516424785 | IQSEC2 | c.3132G>T (p.Gly1044=) c.925G>T c.434G>T c.263G>T c.36G>T (p.Gly12=) c.2973G>T (p.Gly991=) n.1280G>T c.2943G>T (p.Gly981=) c.2358G>T (p.Gly786=) c.3069G>T (p.Gly1023=) c.2295G>T (p.Gly765=) c.2262G>T (p.Gly754=) n.3296G>T c.2475G>T (p.Gly825=) n.3290G>T | |
X | g.53241826C>G | CA516424789 | IQSEC2 | c.3132G>C (p.Gly1044=) c.925G>C c.434G>C c.263G>C c.36G>C (p.Gly12=) c.2973G>C (p.Gly991=) n.1280G>C c.2943G>C (p.Gly981=) c.2358G>C (p.Gly786=) c.3069G>C (p.Gly1023=) c.2295G>C (p.Gly765=) c.2262G>C (p.Gly754=) n.3296G>C c.2475G>C (p.Gly825=) n.3290G>C | |
X | g.53241826C>T | CA516424790 | IQSEC2 | c.3132G>A (p.Gly1044=) c.925G>A c.434G>A c.263G>A c.36G>A (p.Gly12=) c.2973G>A (p.Gly991=) n.1280G>A c.2943G>A (p.Gly981=) c.2358G>A (p.Gly786=) c.3069G>A (p.Gly1023=) c.2295G>A (p.Gly765=) c.2262G>A (p.Gly754=) n.3296G>A c.2475G>A (p.Gly825=) n.3290G>A | |
X | g.53241827C>A | CA413149082 | IQSEC2 | c.3131G>T (p.Gly1044Val) c.924G>T c.433G>T c.262G>T c.35G>T (p.Gly12Val) c.2972G>T (p.Gly991Val) n.1279G>T c.2942G>T (p.Gly981Val) c.2357G>T (p.Gly786Val) c.3068G>T (p.Gly1023Val) c.2294G>T (p.Gly765Val) c.2261G>T (p.Gly754Val) n.3295G>T c.2474G>T (p.Gly825Val) n.3289G>T | |
X | g.53241827C>G | CA413149084 | IQSEC2 | c.3131G>C (p.Gly1044Ala) c.924G>C c.433G>C c.262G>C c.35G>C (p.Gly12Ala) c.2972G>C (p.Gly991Ala) n.1279G>C c.2942G>C (p.Gly981Ala) c.2357G>C (p.Gly786Ala) c.3068G>C (p.Gly1023Ala) c.2294G>C (p.Gly765Ala) c.2261G>C (p.Gly754Ala) n.3295G>C c.2474G>C (p.Gly825Ala) n.3289G>C | |
X | g.53241827C>T | CA413149089 | IQSEC2 | c.3131G>A (p.Gly1044Glu) c.924G>A c.433G>A c.262G>A c.35G>A (p.Gly12Glu) c.2972G>A (p.Gly991Glu) n.1279G>A c.2942G>A (p.Gly981Glu) c.2357G>A (p.Gly786Glu) c.3068G>A (p.Gly1023Glu) c.2294G>A (p.Gly765Glu) c.2261G>A (p.Gly754Glu) n.3295G>A c.2474G>A (p.Gly825Glu) n.3289G>A | |
X | g.53241828C>A | CA413149095 | IQSEC2 | c.3130G>T (p.Gly1044Trp) c.923G>T c.432G>T c.261G>T c.34G>T (p.Gly12Trp) c.2971G>T (p.Gly991Trp) n.1278G>T c.2941G>T (p.Gly981Trp) c.2356G>T (p.Gly786Trp) c.3067G>T (p.Gly1023Trp) c.2293G>T (p.Gly765Trp) c.2260G>T (p.Gly754Trp) n.3294G>T c.2473G>T (p.Gly825Trp) n.3288G>T | |
X | g.53241828C= | CA2429772812 | IQSEC2 | c.3130G= (p.Gly1044=) c.923G= c.432G= c.261G= c.34G= (p.Gly12=) c.2971G= (p.Gly991=) n.1278G= c.2941G= (p.Gly981=) c.2356G= (p.Gly786=) c.3067G= (p.Gly1023=) c.2293G= (p.Gly765=) c.2260G= (p.Gly754=) n.3294G= c.2473G= (p.Gly825=) n.3288G= | |
X | g.53241828C>G | CA10419868 | IQSEC2 | c.3130G>C (p.Gly1044Arg) c.923G>C c.432G>C c.261G>C c.34G>C (p.Gly12Arg) c.2971G>C (p.Gly991Arg) n.1278G>C c.2941G>C (p.Gly981Arg) c.2356G>C (p.Gly786Arg) c.3067G>C (p.Gly1023Arg) c.2293G>C (p.Gly765Arg) c.2260G>C (p.Gly754Arg) n.3294G>C c.2473G>C (p.Gly825Arg) n.3288G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53241828C>T | CA413149103 | IQSEC2 | c.3130G>A (p.Gly1044Arg) c.923G>A c.432G>A c.261G>A c.34G>A (p.Gly12Arg) c.2971G>A (p.Gly991Arg) n.1278G>A c.2941G>A (p.Gly981Arg) c.2356G>A (p.Gly786Arg) c.3067G>A (p.Gly1023Arg) c.2293G>A (p.Gly765Arg) c.2260G>A (p.Gly754Arg) n.3294G>A c.2473G>A (p.Gly825Arg) n.3288G>A | dbSNP gnomAD v2 |
X | g.53241829T>A | CA516424808 | IQSEC2 | c.3129A>T (p.Leu1043=) c.922A>T c.431A>T c.260A>T c.33A>T (p.Leu11=) c.2970A>T (p.Leu990=) n.1277A>T c.2940A>T (p.Leu980=) c.2355A>T (p.Leu785=) c.3066A>T (p.Leu1022=) c.2292A>T (p.Leu764=) c.2259A>T (p.Leu753=) n.3293A>T c.2472A>T (p.Leu824=) n.3287A>T | |
X | g.53241829T>C | CA516424812 | IQSEC2 | c.3129A>G (p.Leu1043=) c.922A>G c.431A>G c.260A>G c.33A>G (p.Leu11=) c.2970A>G (p.Leu990=) n.1277A>G c.2940A>G (p.Leu980=) c.2355A>G (p.Leu785=) c.3066A>G (p.Leu1022=) c.2292A>G (p.Leu764=) c.2259A>G (p.Leu753=) n.3293A>G c.2472A>G (p.Leu824=) n.3287A>G | |
X | g.53241829T>G | CA516424813 | IQSEC2 | c.3129A>C (p.Leu1043=) c.922A>C c.431A>C c.260A>C c.33A>C (p.Leu11=) c.2970A>C (p.Leu990=) n.1277A>C c.2940A>C (p.Leu980=) c.2355A>C (p.Leu785=) c.3066A>C (p.Leu1022=) c.2292A>C (p.Leu764=) c.2259A>C (p.Leu753=) n.3293A>C c.2472A>C (p.Leu824=) n.3287A>C | |
X | g.53241830A>C | CA413149111 | IQSEC2 | c.3128T>G (p.Leu1043Arg) c.921T>G c.430T>G c.259T>G c.32T>G (p.Leu11Arg) c.2969T>G (p.Leu990Arg) n.1276T>G c.2939T>G (p.Leu980Arg) c.2354T>G (p.Leu785Arg) c.3065T>G (p.Leu1022Arg) c.2291T>G (p.Leu764Arg) c.2258T>G (p.Leu753Arg) n.3292T>G c.2471T>G (p.Leu824Arg) n.3286T>G | |
X | g.53241830A>G | CA413149122 | IQSEC2 | c.3128T>C (p.Leu1043Pro) c.921T>C c.430T>C c.259T>C c.32T>C (p.Leu11Pro) c.2969T>C (p.Leu990Pro) n.1276T>C c.2939T>C (p.Leu980Pro) c.2354T>C (p.Leu785Pro) c.3065T>C (p.Leu1022Pro) c.2291T>C (p.Leu764Pro) c.2258T>C (p.Leu753Pro) n.3292T>C c.2471T>C (p.Leu824Pro) n.3286T>C | |
X | g.53241830A>T | CA413149144 | IQSEC2 | c.3128T>A (p.Leu1043Gln) c.921T>A c.430T>A c.259T>A c.32T>A (p.Leu11Gln) c.2969T>A (p.Leu990Gln) n.1276T>A c.2939T>A (p.Leu980Gln) c.2354T>A (p.Leu785Gln) c.3065T>A (p.Leu1022Gln) c.2291T>A (p.Leu764Gln) c.2258T>A (p.Leu753Gln) n.3292T>A c.2471T>A (p.Leu824Gln) n.3286T>A | |
X | g.53241831G>A | CA516424828 | IQSEC2 | c.3127C>T (p.Leu1043=) c.920C>T c.429C>T c.258C>T c.31C>T (p.Leu11=) c.2968C>T (p.Leu990=) n.1275C>T c.2938C>T (p.Leu980=) c.2353C>T (p.Leu785=) c.3064C>T (p.Leu1022=) c.2290C>T (p.Leu764=) c.2257C>T (p.Leu753=) n.3291C>T c.2470C>T (p.Leu824=) n.3285C>T | |
X | g.53241831G>C | CA413149145 | IQSEC2 | c.3127C>G (p.Leu1043Val) c.920C>G c.429C>G c.258C>G c.31C>G (p.Leu11Val) c.2968C>G (p.Leu990Val) n.1275C>G c.2938C>G (p.Leu980Val) c.2353C>G (p.Leu785Val) c.3064C>G (p.Leu1022Val) c.2290C>G (p.Leu764Val) c.2257C>G (p.Leu753Val) n.3291C>G c.2470C>G (p.Leu824Val) n.3285C>G | |
X | g.53241831G>T | CA413149146 | IQSEC2 | c.3127C>A (p.Leu1043Ile) c.920C>A c.429C>A c.258C>A c.31C>A (p.Leu11Ile) c.2968C>A (p.Leu990Ile) n.1275C>A c.2938C>A (p.Leu980Ile) c.2353C>A (p.Leu785Ile) c.3064C>A (p.Leu1022Ile) c.2290C>A (p.Leu764Ile) c.2257C>A (p.Leu753Ile) n.3291C>A c.2470C>A (p.Leu824Ile) n.3285C>A | |
X | g.53241832C>A | CA413149148 | IQSEC2 | c.3126G>T (p.Arg1042Ser) c.919G>T c.428G>T c.257G>T c.30G>T (p.Arg10Ser) c.2967G>T (p.Arg989Ser) n.1274G>T c.2937G>T (p.Arg979Ser) c.2352G>T (p.Arg784Ser) c.3063G>T (p.Arg1021Ser) c.2289G>T (p.Arg763Ser) c.2256G>T (p.Arg752Ser) n.3290G>T c.2469G>T (p.Arg823Ser) n.3284G>T | |
X | g.53241832C>G | CA413149152 | IQSEC2 | c.3126G>C (p.Arg1042Ser) c.919G>C c.428G>C c.257G>C c.30G>C (p.Arg10Ser) c.2967G>C (p.Arg989Ser) n.1274G>C c.2937G>C (p.Arg979Ser) c.2352G>C (p.Arg784Ser) c.3063G>C (p.Arg1021Ser) c.2289G>C (p.Arg763Ser) c.2256G>C (p.Arg752Ser) n.3290G>C c.2469G>C (p.Arg823Ser) n.3284G>C | |
X | g.53241832C>T | CA516424841 | IQSEC2 | c.3126G>A (p.Arg1042=) c.919G>A c.428G>A c.257G>A c.30G>A (p.Arg10=) c.2967G>A (p.Arg989=) n.1274G>A c.2937G>A (p.Arg979=) c.2352G>A (p.Arg784=) c.3063G>A (p.Arg1021=) c.2289G>A (p.Arg763=) c.2256G>A (p.Arg752=) n.3290G>A c.2469G>A (p.Arg823=) n.3284G>A | |
X | g.53241833C>A | CA413149156 | IQSEC2 | c.3125G>T (p.Arg1042Met) c.918G>T c.427G>T c.256G>T c.29G>T (p.Arg10Met) c.2966G>T (p.Arg989Met) n.1273G>T c.2936G>T (p.Arg979Met) c.2351G>T (p.Arg784Met) c.3062G>T (p.Arg1021Met) c.2288G>T (p.Arg763Met) c.2255G>T (p.Arg752Met) n.3289G>T c.2468G>T (p.Arg823Met) n.3283G>T | |
X | g.53241833C>G | CA413149157 | IQSEC2 | c.3125G>C (p.Arg1042Thr) c.918G>C c.427G>C c.256G>C c.29G>C (p.Arg10Thr) c.2966G>C (p.Arg989Thr) n.1273G>C c.2936G>C (p.Arg979Thr) c.2351G>C (p.Arg784Thr) c.3062G>C (p.Arg1021Thr) c.2288G>C (p.Arg763Thr) c.2255G>C (p.Arg752Thr) n.3289G>C c.2468G>C (p.Arg823Thr) n.3283G>C | |
X | g.53241833C>T | CA413149160 | IQSEC2 | c.3125G>A (p.Arg1042Lys) c.918G>A c.427G>A c.256G>A c.29G>A (p.Arg10Lys) c.2966G>A (p.Arg989Lys) n.1273G>A c.2936G>A (p.Arg979Lys) c.2351G>A (p.Arg784Lys) c.3062G>A (p.Arg1021Lys) c.2288G>A (p.Arg763Lys) c.2255G>A (p.Arg752Lys) n.3289G>A c.2468G>A (p.Arg823Lys) n.3283G>A | |
X | g.53241834T>A | CA413149173 | IQSEC2 | c.3124A>T (p.Arg1042Trp) c.917A>T c.426A>T c.255A>T c.28A>T (p.Arg10Trp) c.2965A>T (p.Arg989Trp) n.1272A>T c.2935A>T (p.Arg979Trp) c.2350A>T (p.Arg784Trp) c.3061A>T (p.Arg1021Trp) c.2287A>T (p.Arg763Trp) c.2254A>T (p.Arg752Trp) n.3288A>T c.2467A>T (p.Arg823Trp) n.3282A>T | |
X | g.53241834T>C | CA413149175 | IQSEC2 | c.3124A>G (p.Arg1042Gly) c.917A>G c.426A>G c.255A>G c.28A>G (p.Arg10Gly) c.2965A>G (p.Arg989Gly) n.1272A>G c.2935A>G (p.Arg979Gly) c.2350A>G (p.Arg784Gly) c.3061A>G (p.Arg1021Gly) c.2287A>G (p.Arg763Gly) c.2254A>G (p.Arg752Gly) n.3288A>G c.2467A>G (p.Arg823Gly) n.3282A>G | |
X | g.53241834T>G | CA516424852 | IQSEC2 | c.3124A>C (p.Arg1042=) c.917A>C c.426A>C c.255A>C c.28A>C (p.Arg10=) c.2965A>C (p.Arg989=) n.1272A>C c.2935A>C (p.Arg979=) c.2350A>C (p.Arg784=) c.3061A>C (p.Arg1021=) c.2287A>C (p.Arg763=) c.2254A>C (p.Arg752=) n.3288A>C c.2467A>C (p.Arg823=) n.3282A>C | |
X | g.53241835C>A | CA413149180 | IQSEC2 | c.3123G>T (p.Gln1041His) c.916G>T c.425G>T c.254G>T c.27G>T (p.Gln9His) c.2964G>T (p.Gln988His) n.1271G>T c.2934G>T (p.Gln978His) c.2349G>T (p.Gln783His) c.3060G>T (p.Gln1020His) c.2286G>T (p.Gln762His) c.2253G>T (p.Gln751His) n.3287G>T c.2466G>T (p.Gln822His) n.3281G>T | |
X | g.53241835C>G | CA413149181 | IQSEC2 | c.3123G>C (p.Gln1041His) c.916G>C c.425G>C c.254G>C c.27G>C (p.Gln9His) c.2964G>C (p.Gln988His) n.1271G>C c.2934G>C (p.Gln978His) c.2349G>C (p.Gln783His) c.3060G>C (p.Gln1020His) c.2286G>C (p.Gln762His) c.2253G>C (p.Gln751His) n.3287G>C c.2466G>C (p.Gln822His) n.3281G>C | |
X | g.53241835C>T | CA516424859 | IQSEC2 | c.3123G>A (p.Gln1041=) c.916G>A c.425G>A c.254G>A c.27G>A (p.Gln9=) c.2964G>A (p.Gln988=) n.1271G>A c.2934G>A (p.Gln978=) c.2349G>A (p.Gln783=) c.3060G>A (p.Gln1020=) c.2286G>A (p.Gln762=) c.2253G>A (p.Gln751=) n.3287G>A c.2466G>A (p.Gln822=) n.3281G>A | gnomAD v4 |
X | g.53241836del | CA516424868 | IQSEC2 | c.3122del (p.Gln1041ArgfsTer3) c.915del c.424del c.253del c.26del (p.Gln9ArgfsTer3) c.2963del (p.Gln988ArgfsTer3) n.1270del c.2933del (p.Gln978ArgfsTer3) c.2348del (p.Gln783ArgfsTer3) c.3059del (p.Gln1020ArgfsTer3) c.2285del (p.Gln762ArgfsTer3) c.2252del (p.Gln751ArgfsTer3) n.3286del c.2465del (p.Gln822ArgfsTer3) n.3280del | COSMIC COSMIC |
X | g.53241836T>A | CA413149186 | IQSEC2 | c.3122A>T (p.Gln1041Leu) c.915A>T c.424A>T c.253A>T c.26A>T (p.Gln9Leu) c.2963A>T (p.Gln988Leu) n.1270A>T c.2933A>T (p.Gln978Leu) c.2348A>T (p.Gln783Leu) c.3059A>T (p.Gln1020Leu) c.2285A>T (p.Gln762Leu) c.2252A>T (p.Gln751Leu) n.3286A>T c.2465A>T (p.Gln822Leu) n.3280A>T | |
X | g.53241836T>C | CA413149190 | IQSEC2 | c.3122A>G (p.Gln1041Arg) c.915A>G c.424A>G c.253A>G c.26A>G (p.Gln9Arg) c.2963A>G (p.Gln988Arg) n.1270A>G c.2933A>G (p.Gln978Arg) c.2348A>G (p.Gln783Arg) c.3059A>G (p.Gln1020Arg) c.2285A>G (p.Gln762Arg) c.2252A>G (p.Gln751Arg) n.3286A>G c.2465A>G (p.Gln822Arg) n.3280A>G | |
X | g.53241836T>G | CA413149197 | IQSEC2 | c.3122A>C (p.Gln1041Pro) c.915A>C c.424A>C c.253A>C c.26A>C (p.Gln9Pro) c.2963A>C (p.Gln988Pro) n.1270A>C c.2933A>C (p.Gln978Pro) c.2348A>C (p.Gln783Pro) c.3059A>C (p.Gln1020Pro) c.2285A>C (p.Gln762Pro) c.2252A>C (p.Gln751Pro) n.3286A>C c.2465A>C (p.Gln822Pro) n.3280A>C | |
X | g.53241837G>A | CA413149198 | IQSEC2 | c.3121C>T (p.Gln1041Ter) c.914C>T c.423C>T c.252C>T c.25C>T (p.Gln9Ter) c.2962C>T (p.Gln988Ter) n.1269C>T c.2932C>T (p.Gln978Ter) c.2347C>T (p.Gln783Ter) c.3058C>T (p.Gln1020Ter) c.2284C>T (p.Gln762Ter) c.2251C>T (p.Gln751Ter) n.3285C>T c.2464C>T (p.Gln822Ter) n.3279C>T | |
X | g.53241837G>C | CA413149199 | IQSEC2 | c.3121C>G (p.Gln1041Glu) c.914C>G c.423C>G c.252C>G c.25C>G (p.Gln9Glu) c.2962C>G (p.Gln988Glu) n.1269C>G c.2932C>G (p.Gln978Glu) c.2347C>G (p.Gln783Glu) c.3058C>G (p.Gln1020Glu) c.2284C>G (p.Gln762Glu) c.2251C>G (p.Gln751Glu) n.3285C>G c.2464C>G (p.Gln822Glu) n.3279C>G | |
X | g.53241837G>T | CA413149204 | IQSEC2 | c.3121C>A (p.Gln1041Lys) c.914C>A c.423C>A c.252C>A c.25C>A (p.Gln9Lys) c.2962C>A (p.Gln988Lys) n.1269C>A c.2932C>A (p.Gln978Lys) c.2347C>A (p.Gln783Lys) c.3058C>A (p.Gln1020Lys) c.2284C>A (p.Gln762Lys) c.2251C>A (p.Gln751Lys) n.3285C>A c.2464C>A (p.Gln822Lys) n.3279C>A | |
X | g.53241838G>A | CA516424884 | IQSEC2 | c.3120C>T (p.Pro1040=) c.913C>T c.422C>T c.251C>T c.24C>T (p.Pro8=) c.2961C>T (p.Pro987=) n.1268C>T c.2931C>T (p.Pro977=) c.2346C>T (p.Pro782=) c.3057C>T (p.Pro1019=) c.2283C>T (p.Pro761=) c.2250C>T (p.Pro750=) n.3284C>T c.2463C>T (p.Pro821=) n.3278C>T | |
X | g.53241838G>C | CA516424881 | IQSEC2 | c.3120C>G (p.Pro1040=) c.913C>G c.422C>G c.251C>G c.24C>G (p.Pro8=) c.2961C>G (p.Pro987=) n.1268C>G c.2931C>G (p.Pro977=) c.2346C>G (p.Pro782=) c.3057C>G (p.Pro1019=) c.2283C>G (p.Pro761=) c.2250C>G (p.Pro750=) n.3284C>G c.2463C>G (p.Pro821=) n.3278C>G | |
X | g.53241838G>T | CA516424883 | IQSEC2 | c.3120C>A (p.Pro1040=) c.913C>A c.422C>A c.251C>A c.24C>A (p.Pro8=) c.2961C>A (p.Pro987=) n.1268C>A c.2931C>A (p.Pro977=) c.2346C>A (p.Pro782=) c.3057C>A (p.Pro1019=) c.2283C>A (p.Pro761=) c.2250C>A (p.Pro750=) n.3284C>A c.2463C>A (p.Pro821=) n.3278C>A | |
X | g.53241839G>A | CA413149211 | IQSEC2 | c.3119C>T (p.Pro1040Leu) c.912C>T c.421C>T c.250C>T c.23C>T (p.Pro8Leu) c.2960C>T (p.Pro987Leu) n.1267C>T c.2930C>T (p.Pro977Leu) c.2345C>T (p.Pro782Leu) c.3056C>T (p.Pro1019Leu) c.2282C>T (p.Pro761Leu) c.2249C>T (p.Pro750Leu) n.3283C>T c.2462C>T (p.Pro821Leu) n.3277C>T | gnomAD v4 |
X | g.53241839G>C | CA413149215 | IQSEC2 | c.3119C>G (p.Pro1040Arg) c.912C>G c.421C>G c.250C>G c.23C>G (p.Pro8Arg) c.2960C>G (p.Pro987Arg) n.1267C>G c.2930C>G (p.Pro977Arg) c.2345C>G (p.Pro782Arg) c.3056C>G (p.Pro1019Arg) c.2282C>G (p.Pro761Arg) c.2249C>G (p.Pro750Arg) n.3283C>G c.2462C>G (p.Pro821Arg) n.3277C>G | |
X | g.53241839G>T | CA413149207 | IQSEC2 | c.3119C>A (p.Pro1040His) c.912C>A c.421C>A c.250C>A c.23C>A (p.Pro8His) c.2960C>A (p.Pro987His) n.1267C>A c.2930C>A (p.Pro977His) c.2345C>A (p.Pro782His) c.3056C>A (p.Pro1019His) c.2282C>A (p.Pro761His) c.2249C>A (p.Pro750His) n.3283C>A c.2462C>A (p.Pro821His) n.3277C>A | |
X | g.53241840G>A | CA10419869 | IQSEC2 | c.3118C>T (p.Pro1040Ser) c.911C>T c.420C>T c.249C>T c.22C>T (p.Pro8Ser) c.2959C>T (p.Pro987Ser) n.1266C>T c.2929C>T (p.Pro977Ser) c.2344C>T (p.Pro782Ser) c.3055C>T (p.Pro1019Ser) c.2281C>T (p.Pro761Ser) c.2248C>T (p.Pro750Ser) n.3282C>T c.2461C>T (p.Pro821Ser) n.3276C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53241840G>C | CA413149224 | IQSEC2 | c.3118C>G (p.Pro1040Ala) c.911C>G c.420C>G c.249C>G c.22C>G (p.Pro8Ala) c.2959C>G (p.Pro987Ala) n.1266C>G c.2929C>G (p.Pro977Ala) c.2344C>G (p.Pro782Ala) c.3055C>G (p.Pro1019Ala) c.2281C>G (p.Pro761Ala) c.2248C>G (p.Pro750Ala) n.3282C>G c.2461C>G (p.Pro821Ala) n.3276C>G | |
X | g.53241840G= | CA2429772813 | IQSEC2 | c.3118C= (p.Pro1040=) c.911C= c.420C= c.249C= c.22C= (p.Pro8=) c.2959C= (p.Pro987=) n.1266C= c.2929C= (p.Pro977=) c.2344C= (p.Pro782=) c.3055C= (p.Pro1019=) c.2281C= (p.Pro761=) c.2248C= (p.Pro750=) n.3282C= c.2461C= (p.Pro821=) n.3276C= | |
X | g.53241840G>T | CA413149227 | IQSEC2 | c.3118C>A (p.Pro1040Thr) c.911C>A c.420C>A c.249C>A c.22C>A (p.Pro8Thr) c.2959C>A (p.Pro987Thr) n.1266C>A c.2929C>A (p.Pro977Thr) c.2344C>A (p.Pro782Thr) c.3055C>A (p.Pro1019Thr) c.2281C>A (p.Pro761Thr) c.2248C>A (p.Pro750Thr) n.3282C>A c.2461C>A (p.Pro821Thr) n.3276C>A | |
X | g.53241841G>A | CA516424898 | IQSEC2 | c.3117C>T (p.Arg1039=) c.910C>T c.419C>T c.248C>T c.21C>T (p.Arg7=) c.2958C>T (p.Arg986=) n.1265C>T c.2928C>T (p.Arg976=) c.2343C>T (p.Arg781=) c.3054C>T (p.Arg1018=) c.2280C>T (p.Arg760=) c.2247C>T (p.Arg749=) n.3281C>T c.2460C>T (p.Arg820=) n.3275C>T | dbSNP |
X | g.53241841G>C | CA516424905 | IQSEC2 | c.3117C>G (p.Arg1039=) c.910C>G c.419C>G c.248C>G c.21C>G (p.Arg7=) c.2958C>G (p.Arg986=) n.1265C>G c.2928C>G (p.Arg976=) c.2343C>G (p.Arg781=) c.3054C>G (p.Arg1018=) c.2280C>G (p.Arg760=) c.2247C>G (p.Arg749=) n.3281C>G c.2460C>G (p.Arg820=) n.3275C>G | |
X | g.53241841G= | CA2429772814 | IQSEC2 | c.3117C= (p.Arg1039=) c.910C= c.419C= c.248C= c.21C= (p.Arg7=) c.2958C= (p.Arg986=) n.1265C= c.2928C= (p.Arg976=) c.2343C= (p.Arg781=) c.3054C= (p.Arg1018=) c.2280C= (p.Arg760=) c.2247C= (p.Arg749=) n.3281C= c.2460C= (p.Arg820=) n.3275C= | |
X | g.53241841G>T | CA516424901 | IQSEC2 | c.3117C>A (p.Arg1039=) c.910C>A c.419C>A c.248C>A c.21C>A (p.Arg7=) c.2958C>A (p.Arg986=) n.1265C>A c.2928C>A (p.Arg976=) c.2343C>A (p.Arg781=) c.3054C>A (p.Arg1018=) c.2280C>A (p.Arg760=) c.2247C>A (p.Arg749=) n.3281C>A c.2460C>A (p.Arg820=) n.3275C>A | |
X | g.53241842C>A | CA413149237 | IQSEC2 | c.3116G>T (p.Arg1039Leu) c.909G>T c.418G>T c.247G>T c.20G>T (p.Arg7Leu) c.2957G>T (p.Arg986Leu) n.1264G>T c.2927G>T (p.Arg976Leu) c.2342G>T (p.Arg781Leu) c.3053G>T (p.Arg1018Leu) c.2279G>T (p.Arg760Leu) c.2246G>T (p.Arg749Leu) n.3280G>T c.2459G>T (p.Arg820Leu) n.3274G>T | |
X | g.53241842C= | CA2429772815 | IQSEC2 | c.3116G= (p.Arg1039=) c.909G= c.418G= c.247G= c.20G= (p.Arg7=) c.2957G= (p.Arg986=) n.1264G= c.2927G= (p.Arg976=) c.2342G= (p.Arg781=) c.3053G= (p.Arg1018=) c.2279G= (p.Arg760=) c.2246G= (p.Arg749=) n.3280G= c.2459G= (p.Arg820=) n.3274G= | |
X | g.53241842C>G | CA413149240 | IQSEC2 | c.3116G>C (p.Arg1039Pro) c.909G>C c.418G>C c.247G>C c.20G>C (p.Arg7Pro) c.2957G>C (p.Arg986Pro) n.1264G>C c.2927G>C (p.Arg976Pro) c.2342G>C (p.Arg781Pro) c.3053G>C (p.Arg1018Pro) c.2279G>C (p.Arg760Pro) c.2246G>C (p.Arg749Pro) n.3280G>C c.2459G>C (p.Arg820Pro) n.3274G>C | |
X | g.53241842C>T | CA10419870 | IQSEC2 | c.3116G>A (p.Arg1039His) c.909G>A c.418G>A c.247G>A c.20G>A (p.Arg7His) c.2957G>A (p.Arg986His) n.1264G>A c.2927G>A (p.Arg976His) c.2342G>A (p.Arg781His) c.3053G>A (p.Arg1018His) c.2279G>A (p.Arg760His) c.2246G>A (p.Arg749His) n.3280G>A c.2459G>A (p.Arg820His) n.3274G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53241843G>A | CA413149249 | IQSEC2 | c.3115C>T (p.Arg1039Cys) c.908C>T c.417C>T c.246C>T c.19C>T (p.Arg7Cys) c.2956C>T (p.Arg986Cys) n.1263C>T c.2926C>T (p.Arg976Cys) c.2341C>T (p.Arg781Cys) c.3052C>T (p.Arg1018Cys) c.2278C>T (p.Arg760Cys) c.2245C>T (p.Arg749Cys) n.3279C>T c.2458C>T (p.Arg820Cys) n.3273C>T | ClinVar dbSNP gnomAD v4 |
X | g.53241843G>C | CA413149252 | IQSEC2 | c.3115C>G (p.Arg1039Gly) c.908C>G c.417C>G c.246C>G c.19C>G (p.Arg7Gly) c.2956C>G (p.Arg986Gly) n.1263C>G c.2926C>G (p.Arg976Gly) c.2341C>G (p.Arg781Gly) c.3052C>G (p.Arg1018Gly) c.2278C>G (p.Arg760Gly) c.2245C>G (p.Arg749Gly) n.3279C>G c.2458C>G (p.Arg820Gly) n.3273C>G | |
X | g.53241843G= | CA2429772816 | IQSEC2 | c.3115C= (p.Arg1039=) c.908C= c.417C= c.246C= c.19C= (p.Arg7=) c.2956C= (p.Arg986=) n.1263C= c.2926C= (p.Arg976=) c.2341C= (p.Arg781=) c.3052C= (p.Arg1018=) c.2278C= (p.Arg760=) c.2245C= (p.Arg749=) n.3279C= c.2458C= (p.Arg820=) n.3273C= | |
X | g.53241843G>T | CA413149254 | IQSEC2 | c.3115C>A (p.Arg1039Ser) c.908C>A c.417C>A c.246C>A c.19C>A (p.Arg7Ser) c.2956C>A (p.Arg986Ser) n.1263C>A c.2926C>A (p.Arg976Ser) c.2341C>A (p.Arg781Ser) c.3052C>A (p.Arg1018Ser) c.2278C>A (p.Arg760Ser) c.2245C>A (p.Arg749Ser) n.3279C>A c.2458C>A (p.Arg820Ser) n.3273C>A | |
X | g.53241844G>A | CA516424925 | IQSEC2 | c.3114C>T (p.Asn1038=) c.907C>T c.416C>T c.245C>T c.18C>T (p.Asn6=) c.2955C>T (p.Asn985=) n.1262C>T c.2925C>T (p.Asn975=) c.2340C>T (p.Asn780=) c.3051C>T (p.Asn1017=) c.2277C>T (p.Asn759=) c.2244C>T (p.Asn748=) n.3278C>T c.2457C>T (p.Asn819=) n.3272C>T | |
X | g.53241844G>C | CA413149263 | IQSEC2 | c.3114C>G (p.Asn1038Lys) c.907C>G c.416C>G c.245C>G c.18C>G (p.Asn6Lys) c.2955C>G (p.Asn985Lys) n.1262C>G c.2925C>G (p.Asn975Lys) c.2340C>G (p.Asn780Lys) c.3051C>G (p.Asn1017Lys) c.2277C>G (p.Asn759Lys) c.2244C>G (p.Asn748Lys) n.3278C>G c.2457C>G (p.Asn819Lys) n.3272C>G | |
X | g.53241844G>T | CA413149268 | IQSEC2 | c.3114C>A (p.Asn1038Lys) c.907C>A c.416C>A c.245C>A c.18C>A (p.Asn6Lys) c.2955C>A (p.Asn985Lys) n.1262C>A c.2925C>A (p.Asn975Lys) c.2340C>A (p.Asn780Lys) c.3051C>A (p.Asn1017Lys) c.2277C>A (p.Asn759Lys) c.2244C>A (p.Asn748Lys) n.3278C>A c.2457C>A (p.Asn819Lys) n.3272C>A | |
X | g.53241845T>A | CA413149275 | IQSEC2 | c.3113A>T (p.Asn1038Ile) c.906A>T c.415A>T c.244A>T c.17A>T (p.Asn6Ile) c.2954A>T (p.Asn985Ile) n.1261A>T c.2924A>T (p.Asn975Ile) c.2339A>T (p.Asn780Ile) c.3050A>T (p.Asn1017Ile) c.2276A>T (p.Asn759Ile) c.2243A>T (p.Asn748Ile) n.3277A>T c.2456A>T (p.Asn819Ile) n.3271A>T | |
X | g.53241845T>C | CA413149280 | IQSEC2 | c.3113A>G (p.Asn1038Ser) c.906A>G c.415A>G c.244A>G c.17A>G (p.Asn6Ser) c.2954A>G (p.Asn985Ser) n.1261A>G c.2924A>G (p.Asn975Ser) c.2339A>G (p.Asn780Ser) c.3050A>G (p.Asn1017Ser) c.2276A>G (p.Asn759Ser) c.2243A>G (p.Asn748Ser) n.3277A>G c.2456A>G (p.Asn819Ser) n.3271A>G | |
X | g.53241845T>G | CA413149290 | IQSEC2 | c.3113A>C (p.Asn1038Thr) c.906A>C c.415A>C c.244A>C c.17A>C (p.Asn6Thr) c.2954A>C (p.Asn985Thr) n.1261A>C c.2924A>C (p.Asn975Thr) c.2339A>C (p.Asn780Thr) c.3050A>C (p.Asn1017Thr) c.2276A>C (p.Asn759Thr) c.2243A>C (p.Asn748Thr) n.3277A>C c.2456A>C (p.Asn819Thr) n.3271A>C | |
X | g.53241846T>A | CA413149311 | IQSEC2 | c.3112A>T (p.Asn1038Tyr) c.905A>T c.414A>T c.243A>T c.16A>T (p.Asn6Tyr) c.2953A>T (p.Asn985Tyr) n.1260A>T c.2923A>T (p.Asn975Tyr) c.2338A>T (p.Asn780Tyr) c.3049A>T (p.Asn1017Tyr) c.2275A>T (p.Asn759Tyr) c.2242A>T (p.Asn748Tyr) n.3276A>T c.2455A>T (p.Asn819Tyr) n.3270A>T | |
X | g.53241846T>C | CA413149301 | IQSEC2 | c.3112A>G (p.Asn1038Asp) c.905A>G c.414A>G c.243A>G c.16A>G (p.Asn6Asp) c.2953A>G (p.Asn985Asp) n.1260A>G c.2923A>G (p.Asn975Asp) c.2338A>G (p.Asn780Asp) c.3049A>G (p.Asn1017Asp) c.2275A>G (p.Asn759Asp) c.2242A>G (p.Asn748Asp) n.3276A>G c.2455A>G (p.Asn819Asp) n.3270A>G | |
X | g.53241846T>G | CA413149308 | IQSEC2 | c.3112A>C (p.Asn1038His) c.905A>C c.414A>C c.243A>C c.16A>C (p.Asn6His) c.2953A>C (p.Asn985His) n.1260A>C c.2923A>C (p.Asn975His) c.2338A>C (p.Asn780His) c.3049A>C (p.Asn1017His) c.2275A>C (p.Asn759His) c.2242A>C (p.Asn748His) n.3276A>C c.2455A>C (p.Asn819His) n.3270A>C | |
X | g.53241847T>A | CA516424942 | IQSEC2 | c.3111A>T (p.Pro1037=) c.904A>T c.413A>T c.242A>T c.15A>T (p.Pro5=) c.2952A>T (p.Pro984=) n.1259A>T c.2922A>T (p.Pro974=) c.2337A>T (p.Pro779=) c.3048A>T (p.Pro1016=) c.2274A>T (p.Pro758=) c.2241A>T (p.Pro747=) n.3275A>T c.2454A>T (p.Pro818=) n.3269A>T | |
X | g.53241847T>C | CA516424946 | IQSEC2 | c.3111A>G (p.Pro1037=) c.904A>G c.413A>G c.242A>G c.15A>G (p.Pro5=) c.2952A>G (p.Pro984=) n.1259A>G c.2922A>G (p.Pro974=) c.2337A>G (p.Pro779=) c.3048A>G (p.Pro1016=) c.2274A>G (p.Pro758=) c.2241A>G (p.Pro747=) n.3275A>G c.2454A>G (p.Pro818=) n.3269A>G | |
X | g.53241847T>G | CA10419871 | IQSEC2 | c.3111A>C (p.Pro1037=) c.904A>C c.413A>C c.242A>C c.15A>C (p.Pro5=) c.2952A>C (p.Pro984=) n.1259A>C c.2922A>C (p.Pro974=) c.2337A>C (p.Pro779=) c.3048A>C (p.Pro1016=) c.2274A>C (p.Pro758=) c.2241A>C (p.Pro747=) n.3275A>C c.2454A>C (p.Pro818=) n.3269A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53241847T= | CA2429772817 | IQSEC2 | c.3111A= (p.Pro1037=) c.904A= c.413A= c.242A= c.15A= (p.Pro5=) c.2952A= (p.Pro984=) n.1259A= c.2922A= (p.Pro974=) c.2337A= (p.Pro779=) c.3048A= (p.Pro1016=) c.2274A= (p.Pro758=) c.2241A= (p.Pro747=) n.3275A= c.2454A= (p.Pro818=) n.3269A= | |
X | g.53241848G>A | CA413149316 | IQSEC2 | c.3110C>T (p.Pro1037Leu) c.903C>T c.412C>T c.241C>T c.14C>T (p.Pro5Leu) c.2951C>T (p.Pro984Leu) n.1258C>T c.2921C>T (p.Pro974Leu) c.2336C>T (p.Pro779Leu) c.3047C>T (p.Pro1016Leu) c.2273C>T (p.Pro758Leu) c.2240C>T (p.Pro747Leu) n.3274C>T c.2453C>T (p.Pro818Leu) n.3268C>T | |
X | g.53241848G>C | CA413149317 | IQSEC2 | c.3110C>G (p.Pro1037Arg) c.903C>G c.412C>G c.241C>G c.14C>G (p.Pro5Arg) c.2951C>G (p.Pro984Arg) n.1258C>G c.2921C>G (p.Pro974Arg) c.2336C>G (p.Pro779Arg) c.3047C>G (p.Pro1016Arg) c.2273C>G (p.Pro758Arg) c.2240C>G (p.Pro747Arg) n.3274C>G c.2453C>G (p.Pro818Arg) n.3268C>G | gnomAD v4 |
X | g.53241848G>T | CA413149318 | IQSEC2 | c.3110C>A (p.Pro1037Gln) c.903C>A c.412C>A c.241C>A c.14C>A (p.Pro5Gln) c.2951C>A (p.Pro984Gln) n.1258C>A c.2921C>A (p.Pro974Gln) c.2336C>A (p.Pro779Gln) c.3047C>A (p.Pro1016Gln) c.2273C>A (p.Pro758Gln) c.2240C>A (p.Pro747Gln) n.3274C>A c.2453C>A (p.Pro818Gln) n.3268C>A | |
X | g.53241849G>A | CA413149320 | IQSEC2 | c.3109C>T (p.Pro1037Ser) c.902C>T c.411C>T c.240C>T c.13C>T (p.Pro5Ser) c.2950C>T (p.Pro984Ser) n.1257C>T c.2920C>T (p.Pro974Ser) c.2335C>T (p.Pro779Ser) c.3046C>T (p.Pro1016Ser) c.2272C>T (p.Pro758Ser) c.2239C>T (p.Pro747Ser) n.3273C>T c.2452C>T (p.Pro818Ser) n.3267C>T | |
X | g.53241849G>C | CA413149321 | IQSEC2 | c.3109C>G (p.Pro1037Ala) c.902C>G c.411C>G c.240C>G c.13C>G (p.Pro5Ala) c.2950C>G (p.Pro984Ala) n.1257C>G c.2920C>G (p.Pro974Ala) c.2335C>G (p.Pro779Ala) c.3046C>G (p.Pro1016Ala) c.2272C>G (p.Pro758Ala) c.2239C>G (p.Pro747Ala) n.3273C>G c.2452C>G (p.Pro818Ala) n.3267C>G | |
X | g.53241849G>T | CA413149323 | IQSEC2 | c.3109C>A (p.Pro1037Thr) c.902C>A c.411C>A c.240C>A c.13C>A (p.Pro5Thr) c.2950C>A (p.Pro984Thr) n.1257C>A c.2920C>A (p.Pro974Thr) c.2335C>A (p.Pro779Thr) c.3046C>A (p.Pro1016Thr) c.2272C>A (p.Pro758Thr) c.2239C>A (p.Pro747Thr) n.3273C>A c.2452C>A (p.Pro818Thr) n.3267C>A | |
X | g.53241850A>C | CA413149327 | IQSEC2 | c.3108T>G (p.Asp1036Glu) c.901T>G c.410T>G c.239T>G c.12T>G (p.Asp4Glu) c.2949T>G (p.Asp983Glu) n.1256T>G c.2919T>G (p.Asp973Glu) c.2334T>G (p.Asp778Glu) c.3045T>G (p.Asp1015Glu) c.2271T>G (p.Asp757Glu) c.2238T>G (p.Asp746Glu) n.3272T>G c.2451T>G (p.Asp817Glu) n.3266T>G | |
X | g.53241850A>G | CA516424969 | IQSEC2 | c.3108T>C (p.Asp1036=) c.901T>C c.410T>C c.239T>C c.12T>C (p.Asp4=) c.2949T>C (p.Asp983=) n.1256T>C c.2919T>C (p.Asp973=) c.2334T>C (p.Asp778=) c.3045T>C (p.Asp1015=) c.2271T>C (p.Asp757=) c.2238T>C (p.Asp746=) n.3272T>C c.2451T>C (p.Asp817=) n.3266T>C | ClinVar |
X | g.53241850A>T | CA413149329 | IQSEC2 | c.3108T>A (p.Asp1036Glu) c.901T>A c.410T>A c.239T>A c.12T>A (p.Asp4Glu) c.2949T>A (p.Asp983Glu) n.1256T>A c.2919T>A (p.Asp973Glu) c.2334T>A (p.Asp778Glu) c.3045T>A (p.Asp1015Glu) c.2271T>A (p.Asp757Glu) c.2238T>A (p.Asp746Glu) n.3272T>A c.2451T>A (p.Asp817Glu) n.3266T>A | |
X | g.53241851T>A | CA413149342 | IQSEC2 | c.3107A>T (p.Asp1036Val) c.900A>T c.409A>T c.238A>T c.11A>T (p.Asp4Val) c.2948A>T (p.Asp983Val) n.1255A>T c.2918A>T (p.Asp973Val) c.2333A>T (p.Asp778Val) c.3044A>T (p.Asp1015Val) c.2270A>T (p.Asp757Val) c.2237A>T (p.Asp746Val) n.3271A>T c.2450A>T (p.Asp817Val) n.3265A>T | |
X | g.53241851T>C | CA413149345 | IQSEC2 | c.3107A>G (p.Asp1036Gly) c.900A>G c.409A>G c.238A>G c.11A>G (p.Asp4Gly) c.2948A>G (p.Asp983Gly) n.1255A>G c.2918A>G (p.Asp973Gly) c.2333A>G (p.Asp778Gly) c.3044A>G (p.Asp1015Gly) c.2270A>G (p.Asp757Gly) c.2237A>G (p.Asp746Gly) n.3271A>G c.2450A>G (p.Asp817Gly) n.3265A>G | |
X | g.53241851T>G | CA413149348 | IQSEC2 | c.3107A>C (p.Asp1036Ala) c.900A>C c.409A>C c.238A>C c.11A>C (p.Asp4Ala) c.2948A>C (p.Asp983Ala) n.1255A>C c.2918A>C (p.Asp973Ala) c.2333A>C (p.Asp778Ala) c.3044A>C (p.Asp1015Ala) c.2270A>C (p.Asp757Ala) c.2237A>C (p.Asp746Ala) n.3271A>C c.2450A>C (p.Asp817Ala) n.3265A>C | |
X | g.53241852C>A | CA413149357 | IQSEC2 | c.3106G>T (p.Asp1036Tyr) c.899G>T c.408G>T c.237G>T c.10G>T (p.Asp4Tyr) c.2947G>T (p.Asp983Tyr) n.1254G>T c.2917G>T (p.Asp973Tyr) c.2332G>T (p.Asp778Tyr) c.3043G>T (p.Asp1015Tyr) c.2269G>T (p.Asp757Tyr) c.2236G>T (p.Asp746Tyr) n.3270G>T c.2449G>T (p.Asp817Tyr) n.3264G>T | |
X | g.53241852C>G | CA413149355 | IQSEC2 | c.3106G>C (p.Asp1036His) c.899G>C c.408G>C c.237G>C c.10G>C (p.Asp4His) c.2947G>C (p.Asp983His) n.1254G>C c.2917G>C (p.Asp973His) c.2332G>C (p.Asp778His) c.3043G>C (p.Asp1015His) c.2269G>C (p.Asp757His) c.2236G>C (p.Asp746His) n.3270G>C c.2449G>C (p.Asp817His) n.3264G>C | |
X | g.53241852C>T | CA413149354 | IQSEC2 | c.3106G>A (p.Asp1036Asn) c.899G>A c.408G>A c.237G>A c.10G>A (p.Asp4Asn) c.2947G>A (p.Asp983Asn) n.1254G>A c.2917G>A (p.Asp973Asn) c.2332G>A (p.Asp778Asn) c.3043G>A (p.Asp1015Asn) c.2269G>A (p.Asp757Asn) c.2236G>A (p.Asp746Asn) n.3270G>A c.2449G>A (p.Asp817Asn) n.3264G>A | |
X | g.53241853T>A | CA516424993 | IQSEC2 | c.3105A>T (p.Pro1035=) c.898A>T c.407A>T c.236A>T c.9A>T (p.Pro3=) c.2946A>T (p.Pro982=) n.1253A>T c.2916A>T (p.Pro972=) c.2331A>T (p.Pro777=) c.3042A>T (p.Pro1014=) c.2268A>T (p.Pro756=) c.2235A>T (p.Pro745=) n.3269A>T c.2448A>T (p.Pro816=) n.3263A>T | |
X | g.53241853T>C | CA516424995 | IQSEC2 | c.3105A>G (p.Pro1035=) c.898A>G c.407A>G c.236A>G c.9A>G (p.Pro3=) c.2946A>G (p.Pro982=) n.1253A>G c.2916A>G (p.Pro972=) c.2331A>G (p.Pro777=) c.3042A>G (p.Pro1014=) c.2268A>G (p.Pro756=) c.2235A>G (p.Pro745=) n.3269A>G c.2448A>G (p.Pro816=) n.3263A>G | |
X | g.53241853T>G | CA516424997 | IQSEC2 | c.3105A>C (p.Pro1035=) c.898A>C c.407A>C c.236A>C c.9A>C (p.Pro3=) c.2946A>C (p.Pro982=) n.1253A>C c.2916A>C (p.Pro972=) c.2331A>C (p.Pro777=) c.3042A>C (p.Pro1014=) c.2268A>C (p.Pro756=) c.2235A>C (p.Pro745=) n.3269A>C c.2448A>C (p.Pro816=) n.3263A>C | |
X | g.53241854G>A | CA413149360 | IQSEC2 | c.3104C>T (p.Pro1035Leu) c.897C>T c.406C>T c.235C>T c.8C>T (p.Pro3Leu) c.2945C>T (p.Pro982Leu) n.1252C>T c.2915C>T (p.Pro972Leu) c.2330C>T (p.Pro777Leu) c.3041C>T (p.Pro1014Leu) c.2267C>T (p.Pro756Leu) c.2234C>T (p.Pro745Leu) n.3268C>T c.2447C>T (p.Pro816Leu) n.3262C>T | |
X | g.53241854G>C | CA413149361 | IQSEC2 | c.3104C>G (p.Pro1035Arg) c.897C>G c.406C>G c.235C>G c.8C>G (p.Pro3Arg) c.2945C>G (p.Pro982Arg) n.1252C>G c.2915C>G (p.Pro972Arg) c.2330C>G (p.Pro777Arg) c.3041C>G (p.Pro1014Arg) c.2267C>G (p.Pro756Arg) c.2234C>G (p.Pro745Arg) n.3268C>G c.2447C>G (p.Pro816Arg) n.3262C>G | |
X | g.53241854G>T | CA413149362 | IQSEC2 | c.3104C>A (p.Pro1035Gln) c.897C>A c.406C>A c.235C>A c.8C>A (p.Pro3Gln) c.2945C>A (p.Pro982Gln) n.1252C>A c.2915C>A (p.Pro972Gln) c.2330C>A (p.Pro777Gln) c.3041C>A (p.Pro1014Gln) c.2267C>A (p.Pro756Gln) c.2234C>A (p.Pro745Gln) n.3268C>A c.2447C>A (p.Pro816Gln) n.3262C>A | |
X | g.53241855G>A | CA413149365 | IQSEC2 | c.3103C>T (p.Pro1035Ser) c.896C>T c.405C>T c.234C>T c.7C>T (p.Pro3Ser) c.2944C>T (p.Pro982Ser) n.1251C>T c.2914C>T (p.Pro972Ser) c.2329C>T (p.Pro777Ser) c.3040C>T (p.Pro1014Ser) c.2266C>T (p.Pro756Ser) c.2233C>T (p.Pro745Ser) n.3267C>T c.2446C>T (p.Pro816Ser) n.3261C>T | |
X | g.53241855G>C | CA413149369 | IQSEC2 | c.3103C>G (p.Pro1035Ala) c.896C>G c.405C>G c.234C>G c.7C>G (p.Pro3Ala) c.2944C>G (p.Pro982Ala) n.1251C>G c.2914C>G (p.Pro972Ala) c.2329C>G (p.Pro777Ala) c.3040C>G (p.Pro1014Ala) c.2266C>G (p.Pro756Ala) c.2233C>G (p.Pro745Ala) n.3267C>G c.2446C>G (p.Pro816Ala) n.3261C>G | |
X | g.53241855G>T | CA413149372 | IQSEC2 | c.3103C>A (p.Pro1035Thr) c.896C>A c.405C>A c.234C>A c.7C>A (p.Pro3Thr) c.2944C>A (p.Pro982Thr) n.1251C>A c.2914C>A (p.Pro972Thr) c.2329C>A (p.Pro777Thr) c.3040C>A (p.Pro1014Thr) c.2266C>A (p.Pro756Thr) c.2233C>A (p.Pro745Thr) n.3267C>A c.2446C>A (p.Pro816Thr) n.3261C>A | |
X | g.53241856C>A | CA516425010 | IQSEC2 | c.3102G>T (p.Val1034=) c.895G>T c.404G>T c.233G>T c.6G>T (p.Val2=) c.2943G>T (p.Val981=) n.1250G>T c.2913G>T (p.Val971=) c.2328G>T (p.Val776=) c.3039G>T (p.Val1013=) c.2265G>T (p.Val755=) c.2232G>T (p.Val744=) n.3266G>T c.2445G>T (p.Val815=) n.3260G>T | |
X | g.53241856C>G | CA516425013 | IQSEC2 | c.3102G>C (p.Val1034=) c.895G>C c.404G>C c.233G>C c.6G>C (p.Val2=) c.2943G>C (p.Val981=) n.1250G>C c.2913G>C (p.Val971=) c.2328G>C (p.Val776=) c.3039G>C (p.Val1013=) c.2265G>C (p.Val755=) c.2232G>C (p.Val744=) n.3266G>C c.2445G>C (p.Val815=) n.3260G>C | |
X | g.53241856C>T | CA516425011 | IQSEC2 | c.3102G>A (p.Val1034=) c.895G>A c.404G>A c.233G>A c.6G>A (p.Val2=) c.2943G>A (p.Val981=) n.1250G>A c.2913G>A (p.Val971=) c.2328G>A (p.Val776=) c.3039G>A (p.Val1013=) c.2265G>A (p.Val755=) c.2232G>A (p.Val744=) n.3266G>A c.2445G>A (p.Val815=) n.3260G>A | ClinVar |
X | g.53241857A>C | CA413149390 | IQSEC2 | c.3101T>G (p.Val1034Gly) c.894T>G c.403T>G c.232T>G c.5T>G (p.Val2Gly) c.2942T>G (p.Val981Gly) n.1249T>G c.2912T>G (p.Val971Gly) c.2327T>G (p.Val776Gly) c.3038T>G (p.Val1013Gly) c.2264T>G (p.Val755Gly) c.2231T>G (p.Val744Gly) n.3265T>G c.2444T>G (p.Val815Gly) n.3259T>G | |
X | g.53241857A>G | CA413149378 | IQSEC2 | c.3101T>C (p.Val1034Ala) c.894T>C c.403T>C c.232T>C c.5T>C (p.Val2Ala) c.2942T>C (p.Val981Ala) n.1249T>C c.2912T>C (p.Val971Ala) c.2327T>C (p.Val776Ala) c.3038T>C (p.Val1013Ala) c.2264T>C (p.Val755Ala) c.2231T>C (p.Val744Ala) n.3265T>C c.2444T>C (p.Val815Ala) n.3259T>C | |
X | g.53241857A>T | CA413149387 | IQSEC2 | c.3101T>A (p.Val1034Glu) c.894T>A c.403T>A c.232T>A c.5T>A (p.Val2Glu) c.2942T>A (p.Val981Glu) n.1249T>A c.2912T>A (p.Val971Glu) c.2327T>A (p.Val776Glu) c.3038T>A (p.Val1013Glu) c.2264T>A (p.Val755Glu) c.2231T>A (p.Val744Glu) n.3265T>A c.2444T>A (p.Val815Glu) n.3259T>A | |
X | g.53241858C>A | CA413149395 | IQSEC2 | c.3100G>T (p.Val1034Leu) c.893G>T c.402G>T c.231G>T c.4G>T (p.Val2Leu) c.2941G>T (p.Val981Leu) n.1248G>T c.2911G>T (p.Val971Leu) c.2326G>T (p.Val776Leu) c.3037G>T (p.Val1013Leu) c.2263G>T (p.Val755Leu) c.2230G>T (p.Val744Leu) n.3264G>T c.2443G>T (p.Val815Leu) n.3258G>T | ClinVar dbSNP gnomAD v4 |
X | g.53241858C= | CA2429772818 | IQSEC2 | c.3100G= (p.Val1034=) c.893G= c.402G= c.231G= c.4G= (p.Val2=) c.2941G= (p.Val981=) n.1248G= c.2911G= (p.Val971=) c.2326G= (p.Val776=) c.3037G= (p.Val1013=) c.2263G= (p.Val755=) c.2230G= (p.Val744=) n.3264G= c.2443G= (p.Val815=) n.3258G= | |
X | g.53241858C>G | CA413149399 | IQSEC2 | c.3100G>C (p.Val1034Leu) c.893G>C c.402G>C c.231G>C c.4G>C (p.Val2Leu) c.2941G>C (p.Val981Leu) n.1248G>C c.2911G>C (p.Val971Leu) c.2326G>C (p.Val776Leu) c.3037G>C (p.Val1013Leu) c.2263G>C (p.Val755Leu) c.2230G>C (p.Val744Leu) n.3264G>C c.2443G>C (p.Val815Leu) n.3258G>C | |
X | g.53241858C>T | CA10419872 | IQSEC2 | c.3100G>A (p.Val1034Met) c.893G>A c.402G>A c.231G>A c.4G>A (p.Val2Met) c.2941G>A (p.Val981Met) n.1248G>A c.2911G>A (p.Val971Met) c.2326G>A (p.Val776Met) c.3037G>A (p.Val1013Met) c.2263G>A (p.Val755Met) c.2230G>A (p.Val744Met) n.3264G>A c.2443G>A (p.Val815Met) n.3258G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53241859C>A | CA413149405 | IQSEC2 | c.3099G>T (p.Glu1033Asp) c.892G>T c.401G>T c.230G>T c.3G>T (p.Glu1Asp) c.2940G>T (p.Glu980Asp) n.1247G>T c.2910G>T (p.Glu970Asp) c.2325G>T (p.Glu775Asp) c.3036G>T (p.Glu1012Asp) c.2262G>T (p.Glu754Asp) c.2229G>T (p.Glu743Asp) n.3263G>T c.2442G>T (p.Glu814Asp) n.3257G>T | |
X | g.53241859C= | CA2429772819 | IQSEC2 | c.3099G= (p.Glu1033=) c.892G= c.401G= c.230G= c.3G= (p.Glu1=) c.2940G= (p.Glu980=) n.1247G= c.2910G= (p.Glu970=) c.2325G= (p.Glu775=) c.3036G= (p.Glu1012=) c.2262G= (p.Glu754=) c.2229G= (p.Glu743=) n.3263G= c.2442G= (p.Glu814=) n.3257G= | |
X | g.53241859C>G | CA413149412 | IQSEC2 | c.3099G>C (p.Glu1033Asp) c.892G>C c.401G>C c.230G>C c.3G>C (p.Glu1Asp) c.2940G>C (p.Glu980Asp) n.1247G>C c.2910G>C (p.Glu970Asp) c.2325G>C (p.Glu775Asp) c.3036G>C (p.Glu1012Asp) c.2262G>C (p.Glu754Asp) c.2229G>C (p.Glu743Asp) n.3263G>C c.2442G>C (p.Glu814Asp) n.3257G>C | |
X | g.53241859C>T | CA329164037 | IQSEC2 | c.3099G>A (p.Glu1033=) c.892G>A c.401G>A c.230G>A c.3G>A (p.Glu1=) c.2940G>A (p.Glu980=) n.1247G>A c.2910G>A (p.Glu970=) c.2325G>A (p.Glu775=) c.3036G>A (p.Glu1012=) c.2262G>A (p.Glu754=) c.2229G>A (p.Glu743=) n.3263G>A c.2442G>A (p.Glu814=) n.3257G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53241860T>A | CA413149415 | IQSEC2 | c.3098A>T (p.Glu1033Val) c.891A>T c.400A>T c.229A>T c.2A>T (p.Glu1Val) c.2939A>T (p.Glu980Val) n.1246A>T c.2909A>T (p.Glu970Val) c.2324A>T (p.Glu775Val) c.3035A>T (p.Glu1012Val) c.2261A>T (p.Glu754Val) c.2228A>T (p.Glu743Val) n.3262A>T c.2441A>T (p.Glu814Val) n.3256A>T | |
X | g.53241860T>C | CA413149420 | IQSEC2 | c.3098A>G (p.Glu1033Gly) c.891A>G c.400A>G c.229A>G c.2A>G (p.Glu1Gly) c.2939A>G (p.Glu980Gly) n.1246A>G c.2909A>G (p.Glu970Gly) c.2324A>G (p.Glu775Gly) c.3035A>G (p.Glu1012Gly) c.2261A>G (p.Glu754Gly) c.2228A>G (p.Glu743Gly) n.3262A>G c.2441A>G (p.Glu814Gly) n.3256A>G | |
X | g.53241860T>G | CA413149416 | IQSEC2 | c.3098A>C (p.Glu1033Ala) c.891A>C c.400A>C c.229A>C c.2A>C (p.Glu1Ala) c.2939A>C (p.Glu980Ala) n.1246A>C c.2909A>C (p.Glu970Ala) c.2324A>C (p.Glu775Ala) c.3035A>C (p.Glu1012Ala) c.2261A>C (p.Glu754Ala) c.2228A>C (p.Glu743Ala) n.3262A>C c.2441A>C (p.Glu814Ala) n.3256A>C | |
X | g.53241861C>A | CA413149424 | IQSEC2 | c.3097G>T (p.Glu1033Ter) c.890G>T c.399G>T c.228G>T c.1G>T (p.Glu1Ter) c.2938G>T (p.Glu980Ter) n.1245G>T c.2908G>T (p.Glu970Ter) c.2323G>T (p.Glu775Ter) c.3034G>T (p.Glu1012Ter) c.2260G>T (p.Glu754Ter) c.2227G>T (p.Glu743Ter) n.3261G>T c.2440G>T (p.Glu814Ter) n.3255G>T | |
X | g.53241861C= | CA2429772820 | IQSEC2 | c.3097G= (p.Glu1033=) c.890G= c.399G= c.228G= c.1G= (p.Glu1=) c.2938G= (p.Glu980=) n.1245G= c.2908G= (p.Glu970=) c.2323G= (p.Glu775=) c.3034G= (p.Glu1012=) c.2260G= (p.Glu754=) c.2227G= (p.Glu743=) n.3261G= c.2440G= (p.Glu814=) n.3255G= | |
X | g.53241861C>G | CA413149428 | IQSEC2 | c.3097G>C (p.Glu1033Gln) c.890G>C c.399G>C c.228G>C c.1G>C (p.Glu1Gln) c.2938G>C (p.Glu980Gln) n.1245G>C c.2908G>C (p.Glu970Gln) c.2323G>C (p.Glu775Gln) c.3034G>C (p.Glu1012Gln) c.2260G>C (p.Glu754Gln) c.2227G>C (p.Glu743Gln) n.3261G>C c.2440G>C (p.Glu814Gln) n.3255G>C | |
X | g.53241861C>T | CA413149435 | IQSEC2 | c.3097G>A (p.Glu1033Lys) c.890G>A c.399G>A c.228G>A c.1G>A (p.Glu1Lys) c.2938G>A (p.Glu980Lys) n.1245G>A c.2908G>A (p.Glu970Lys) c.2323G>A (p.Glu775Lys) c.3034G>A (p.Glu1012Lys) c.2260G>A (p.Glu754Lys) c.2227G>A (p.Glu743Lys) n.3261G>A c.2440G>A (p.Glu814Lys) n.3255G>A | dbSNP gnomAD v2 |
X | g.53241862G>A | CA10419873 | IQSEC2 | c.3096C>T (p.Tyr1032=) c.889C>T c.398C>T c.227C>T c.2937C>T (p.Tyr979=) n.1244C>T c.2907C>T (p.Tyr969=) c.2322C>T (p.Tyr774=) c.3033C>T (p.Tyr1011=) c.2259C>T (p.Tyr753=) c.2226C>T (p.Tyr742=) n.3260C>T c.2439C>T (p.Tyr813=) n.3254C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53241862G>C | CA413149440 | IQSEC2 | c.3096C>G (p.Tyr1032Ter) c.889C>G c.398C>G c.227C>G c.2937C>G (p.Tyr979Ter) n.1244C>G c.2907C>G (p.Tyr969Ter) c.2322C>G (p.Tyr774Ter) c.3033C>G (p.Tyr1011Ter) c.2259C>G (p.Tyr753Ter) c.2226C>G (p.Tyr742Ter) n.3260C>G c.2439C>G (p.Tyr813Ter) n.3254C>G | |
X | g.53241862G= | CA2429772821 | IQSEC2 | c.3096C= (p.Tyr1032=) c.889C= c.398C= c.227C= c.2937C= (p.Tyr979=) n.1244C= c.2907C= (p.Tyr969=) c.2322C= (p.Tyr774=) c.3033C= (p.Tyr1011=) c.2259C= (p.Tyr753=) c.2226C= (p.Tyr742=) n.3260C= c.2439C= (p.Tyr813=) n.3254C= | |
X | g.53241862G>T | CA413149446 | IQSEC2 | c.3096C>A (p.Tyr1032Ter) c.889C>A c.398C>A c.227C>A c.2937C>A (p.Tyr979Ter) n.1244C>A c.2907C>A (p.Tyr969Ter) c.2322C>A (p.Tyr774Ter) c.3033C>A (p.Tyr1011Ter) c.2259C>A (p.Tyr753Ter) c.2226C>A (p.Tyr742Ter) n.3260C>A c.2439C>A (p.Tyr813Ter) n.3254C>A | |
X | g.53241863T>A | CA413149448 | IQSEC2 | c.3095A>T (p.Tyr1032Phe) c.888A>T c.397A>T c.226A>T c.2936A>T (p.Tyr979Phe) n.1243A>T c.2906A>T (p.Tyr969Phe) c.2321A>T (p.Tyr774Phe) c.3032A>T (p.Tyr1011Phe) c.2258A>T (p.Tyr753Phe) c.2225A>T (p.Tyr742Phe) n.3259A>T c.2438A>T (p.Tyr813Phe) n.3253A>T | |
X | g.53241863T>C | CA413149451 | IQSEC2 | c.3095A>G (p.Tyr1032Cys) c.888A>G c.397A>G c.226A>G c.2936A>G (p.Tyr979Cys) n.1243A>G c.2906A>G (p.Tyr969Cys) c.2321A>G (p.Tyr774Cys) c.3032A>G (p.Tyr1011Cys) c.2258A>G (p.Tyr753Cys) c.2225A>G (p.Tyr742Cys) n.3259A>G c.2438A>G (p.Tyr813Cys) n.3253A>G | gnomAD v4 |
X | g.53241863T>G | CA413149454 | IQSEC2 | c.3095A>C (p.Tyr1032Ser) c.888A>C c.397A>C c.226A>C c.2936A>C (p.Tyr979Ser) n.1243A>C c.2906A>C (p.Tyr969Ser) c.2321A>C (p.Tyr774Ser) c.3032A>C (p.Tyr1011Ser) c.2258A>C (p.Tyr753Ser) c.2225A>C (p.Tyr742Ser) n.3259A>C c.2438A>C (p.Tyr813Ser) n.3253A>C | |
X | g.53241864A>C | CA413149459 | IQSEC2 | c.3094T>G (p.Tyr1032Asp) c.887T>G c.396T>G c.225T>G c.2935T>G (p.Tyr979Asp) n.1242T>G c.2905T>G (p.Tyr969Asp) c.2320T>G (p.Tyr774Asp) c.3031T>G (p.Tyr1011Asp) c.2257T>G (p.Tyr753Asp) c.2224T>G (p.Tyr742Asp) n.3258T>G c.2437T>G (p.Tyr813Asp) n.3252T>G | |
X | g.53241864A>G | CA413149461 | IQSEC2 | c.3094T>C (p.Tyr1032His) c.887T>C c.396T>C c.225T>C c.2935T>C (p.Tyr979His) n.1242T>C c.2905T>C (p.Tyr969His) c.2320T>C (p.Tyr774His) c.3031T>C (p.Tyr1011His) c.2257T>C (p.Tyr753His) c.2224T>C (p.Tyr742His) n.3258T>C c.2437T>C (p.Tyr813His) n.3252T>C | COSMIC COSMIC COSMIC |
X | g.53241864A>T | CA413149464 | IQSEC2 | c.3094T>A (p.Tyr1032Asn) c.887T>A c.396T>A c.225T>A c.2935T>A (p.Tyr979Asn) n.1242T>A c.2905T>A (p.Tyr969Asn) c.2320T>A (p.Tyr774Asn) c.3031T>A (p.Tyr1011Asn) c.2257T>A (p.Tyr753Asn) c.2224T>A (p.Tyr742Asn) n.3258T>A c.2437T>A (p.Tyr813Asn) n.3252T>A | |
X | g.53241865G>A | CA516425081 | IQSEC2 | c.3093C>T (p.Leu1031=) c.886C>T c.395C>T c.224C>T c.2934C>T (p.Leu978=) n.1241C>T c.2904C>T (p.Leu968=) c.2319C>T (p.Leu773=) c.3030C>T (p.Leu1010=) c.2256C>T (p.Leu752=) c.2223C>T (p.Leu741=) n.3257C>T c.2436C>T (p.Leu812=) n.3251C>T | |
X | g.53241865G>C | CA516425083 | IQSEC2 | c.3093C>G (p.Leu1031=) c.886C>G c.395C>G c.224C>G c.2934C>G (p.Leu978=) n.1241C>G c.2904C>G (p.Leu968=) c.2319C>G (p.Leu773=) c.3030C>G (p.Leu1010=) c.2256C>G (p.Leu752=) c.2223C>G (p.Leu741=) n.3257C>G c.2436C>G (p.Leu812=) n.3251C>G | |
X | g.53241865G>T | CA516425084 | IQSEC2 | c.3093C>A (p.Leu1031=) c.886C>A c.395C>A c.224C>A c.2934C>A (p.Leu978=) n.1241C>A c.2904C>A (p.Leu968=) c.2319C>A (p.Leu773=) c.3030C>A (p.Leu1010=) c.2256C>A (p.Leu752=) c.2223C>A (p.Leu741=) n.3257C>A c.2436C>A (p.Leu812=) n.3251C>A | COSMIC COSMIC COSMIC |
X | g.53241866A>C | CA413149475 | IQSEC2 | c.3092T>G (p.Leu1031Arg) c.885T>G c.394T>G c.223T>G c.2933T>G (p.Leu978Arg) n.1240T>G c.2903T>G (p.Leu968Arg) c.2318T>G (p.Leu773Arg) c.3029T>G (p.Leu1010Arg) c.2255T>G (p.Leu752Arg) c.2222T>G (p.Leu741Arg) n.3256T>G c.2435T>G (p.Leu812Arg) n.3250T>G | |
X | g.53241866A>G | CA413149477 | IQSEC2 | c.3092T>C (p.Leu1031Pro) c.885T>C c.394T>C c.223T>C c.2933T>C (p.Leu978Pro) n.1240T>C c.2903T>C (p.Leu968Pro) c.2318T>C (p.Leu773Pro) c.3029T>C (p.Leu1010Pro) c.2255T>C (p.Leu752Pro) c.2222T>C (p.Leu741Pro) n.3256T>C c.2435T>C (p.Leu812Pro) n.3250T>C | |
X | g.53241866A>T | CA413149469 | IQSEC2 | c.3092T>A (p.Leu1031His) c.885T>A c.394T>A c.223T>A c.2933T>A (p.Leu978His) n.1240T>A c.2903T>A (p.Leu968His) c.2318T>A (p.Leu773His) c.3029T>A (p.Leu1010His) c.2255T>A (p.Leu752His) c.2222T>A (p.Leu741His) n.3256T>A c.2435T>A (p.Leu812His) n.3250T>A | |
X | g.53241867G>A | CA413149493 | IQSEC2 | c.3091C>T (p.Leu1031Phe) c.884C>T c.393C>T c.222C>T c.2932C>T (p.Leu978Phe) n.1239C>T c.2902C>T (p.Leu968Phe) c.2317C>T (p.Leu773Phe) c.3028C>T (p.Leu1010Phe) c.2254C>T (p.Leu752Phe) c.2221C>T (p.Leu741Phe) n.3255C>T c.2434C>T (p.Leu812Phe) n.3249C>T | |
X | g.53241867G>C | CA413149482 | IQSEC2 | c.3091C>G (p.Leu1031Val) c.884C>G c.393C>G c.222C>G c.2932C>G (p.Leu978Val) n.1239C>G c.2902C>G (p.Leu968Val) c.2317C>G (p.Leu773Val) c.3028C>G (p.Leu1010Val) c.2254C>G (p.Leu752Val) c.2221C>G (p.Leu741Val) n.3255C>G c.2434C>G (p.Leu812Val) n.3249C>G | |
X | g.53241867G>T | CA413149496 | IQSEC2 | c.3091C>A (p.Leu1031Ile) c.884C>A c.393C>A c.222C>A c.2932C>A (p.Leu978Ile) n.1239C>A c.2902C>A (p.Leu968Ile) c.2317C>A (p.Leu773Ile) c.3028C>A (p.Leu1010Ile) c.2254C>A (p.Leu752Ile) c.2221C>A (p.Leu741Ile) n.3255C>A c.2434C>A (p.Leu812Ile) n.3249C>A | |
X | g.53241868C>A | CA413149501 | IQSEC2 | c.3090G>T (p.Gln1030His) c.883G>T c.392G>T c.221G>T c.2931G>T (p.Gln977His) n.1238G>T c.2901G>T (p.Gln967His) c.2316G>T (p.Gln772His) c.3027G>T (p.Gln1009His) c.2253G>T (p.Gln751His) c.2220G>T (p.Gln740His) n.3254G>T c.2433G>T (p.Gln811His) n.3248G>T | |
X | g.53241868C= | CA2429772822 | IQSEC2 | c.3090G= (p.Gln1030=) c.883G= c.392G= c.221G= c.2931G= (p.Gln977=) n.1238G= c.2901G= (p.Gln967=) c.2316G= (p.Gln772=) c.3027G= (p.Gln1009=) c.2253G= (p.Gln751=) c.2220G= (p.Gln740=) n.3254G= c.2433G= (p.Gln811=) n.3248G= | |
X | g.53241868C>G | CA413149507 | IQSEC2 | c.3090G>C (p.Gln1030His) c.883G>C c.392G>C c.221G>C c.2931G>C (p.Gln977His) n.1238G>C c.2901G>C (p.Gln967His) c.2316G>C (p.Gln772His) c.3027G>C (p.Gln1009His) c.2253G>C (p.Gln751His) c.2220G>C (p.Gln740His) n.3254G>C c.2433G>C (p.Gln811His) n.3248G>C | |
X | g.53241868C>T | CA10419874 | IQSEC2 | c.3090G>A (p.Gln1030=) c.883G>A c.392G>A c.221G>A c.2931G>A (p.Gln977=) n.1238G>A c.2901G>A (p.Gln967=) c.2316G>A (p.Gln772=) c.3027G>A (p.Gln1009=) c.2253G>A (p.Gln751=) c.2220G>A (p.Gln740=) n.3254G>A c.2433G>A (p.Gln811=) n.3248G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53241869T>A | CA413149510 | IQSEC2 | c.3089A>T (p.Gln1030Leu) c.882A>T c.391A>T c.220A>T c.2930A>T (p.Gln977Leu) n.1237A>T c.2900A>T (p.Gln967Leu) c.2315A>T (p.Gln772Leu) c.3026A>T (p.Gln1009Leu) c.2252A>T (p.Gln751Leu) c.2219A>T (p.Gln740Leu) n.3253A>T c.2432A>T (p.Gln811Leu) n.3247A>T | |
X | g.53241869T>C | CA413149514 | IQSEC2 | c.3089A>G (p.Gln1030Arg) c.882A>G c.391A>G c.220A>G c.2930A>G (p.Gln977Arg) n.1237A>G c.2900A>G (p.Gln967Arg) c.2315A>G (p.Gln772Arg) c.3026A>G (p.Gln1009Arg) c.2252A>G (p.Gln751Arg) c.2219A>G (p.Gln740Arg) n.3253A>G c.2432A>G (p.Gln811Arg) n.3247A>G | |
X | g.53241869T>G | CA413149517 | IQSEC2 | c.3089A>C (p.Gln1030Pro) c.882A>C c.391A>C c.220A>C c.2930A>C (p.Gln977Pro) n.1237A>C c.2900A>C (p.Gln967Pro) c.2315A>C (p.Gln772Pro) c.3026A>C (p.Gln1009Pro) c.2252A>C (p.Gln751Pro) c.2219A>C (p.Gln740Pro) n.3253A>C c.2432A>C (p.Gln811Pro) n.3247A>C | |
X | g.53241870G>A | CA413149520 | IQSEC2 | c.3088C>T (p.Gln1030Ter) c.881C>T c.390C>T c.219C>T c.2929C>T (p.Gln977Ter) n.1236C>T c.2899C>T (p.Gln967Ter) c.2314C>T (p.Gln772Ter) c.3025C>T (p.Gln1009Ter) c.2251C>T (p.Gln751Ter) c.2218C>T (p.Gln740Ter) n.3252C>T c.2431C>T (p.Gln811Ter) n.3246C>T | |
X | g.53241870G>C | CA413149523 | IQSEC2 | c.3088C>G (p.Gln1030Glu) c.881C>G c.390C>G c.219C>G c.2929C>G (p.Gln977Glu) n.1236C>G c.2899C>G (p.Gln967Glu) c.2314C>G (p.Gln772Glu) c.3025C>G (p.Gln1009Glu) c.2251C>G (p.Gln751Glu) c.2218C>G (p.Gln740Glu) n.3252C>G c.2431C>G (p.Gln811Glu) n.3246C>G | |
X | g.53241870G>T | CA413149526 | IQSEC2 | c.3088C>A (p.Gln1030Lys) c.881C>A c.390C>A c.219C>A c.2929C>A (p.Gln977Lys) n.1236C>A c.2899C>A (p.Gln967Lys) c.2314C>A (p.Gln772Lys) c.3025C>A (p.Gln1009Lys) c.2251C>A (p.Gln751Lys) c.2218C>A (p.Gln740Lys) n.3252C>A c.2431C>A (p.Gln811Lys) n.3246C>A | |
X | g.53241871G>A | CA516425115 | IQSEC2 | c.3087C>T (p.Cys1029=) c.880C>T c.389C>T c.218C>T c.2928C>T (p.Cys976=) n.1235C>T c.2898C>T (p.Cys966=) c.2313C>T (p.Cys771=) c.3024C>T (p.Cys1008=) c.2250C>T (p.Cys750=) c.2217C>T (p.Cys739=) n.3251C>T c.2430C>T (p.Cys810=) n.3245C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53241871G>C | CA413149530 | IQSEC2 | c.3087C>G (p.Cys1029Trp) c.880C>G c.389C>G c.218C>G c.2928C>G (p.Cys976Trp) n.1235C>G c.2898C>G (p.Cys966Trp) c.2313C>G (p.Cys771Trp) c.3024C>G (p.Cys1008Trp) c.2250C>G (p.Cys750Trp) c.2217C>G (p.Cys739Trp) n.3251C>G c.2430C>G (p.Cys810Trp) n.3245C>G | |
X | g.53241871G= | CA2429772823 | IQSEC2 | c.3087C= (p.Cys1029=) c.880C= c.389C= c.218C= c.2928C= (p.Cys976=) n.1235C= c.2898C= (p.Cys966=) c.2313C= (p.Cys771=) c.3024C= (p.Cys1008=) c.2250C= (p.Cys750=) c.2217C= (p.Cys739=) n.3251C= c.2430C= (p.Cys810=) n.3245C= | |
X | g.53241871G>T | CA413149533 | IQSEC2 | c.3087C>A (p.Cys1029Ter) c.880C>A c.389C>A c.218C>A c.2928C>A (p.Cys976Ter) n.1235C>A c.2898C>A (p.Cys966Ter) c.2313C>A (p.Cys771Ter) c.3024C>A (p.Cys1008Ter) c.2250C>A (p.Cys750Ter) c.2217C>A (p.Cys739Ter) n.3251C>A c.2430C>A (p.Cys810Ter) n.3245C>A | |
X | g.53241872C>A | CA413149538 | IQSEC2 | c.3086G>T (p.Cys1029Phe) c.879G>T c.388G>T c.217G>T c.2927G>T (p.Cys976Phe) n.1234G>T c.2897G>T (p.Cys966Phe) c.2312G>T (p.Cys771Phe) c.3023G>T (p.Cys1008Phe) c.2249G>T (p.Cys750Phe) c.2216G>T (p.Cys739Phe) n.3250G>T c.2429G>T (p.Cys810Phe) n.3244G>T | |
X | g.53241872C>G | CA413149540 | IQSEC2 | c.3086G>C (p.Cys1029Ser) c.879G>C c.388G>C c.217G>C c.2927G>C (p.Cys976Ser) n.1234G>C c.2897G>C (p.Cys966Ser) c.2312G>C (p.Cys771Ser) c.3023G>C (p.Cys1008Ser) c.2249G>C (p.Cys750Ser) c.2216G>C (p.Cys739Ser) n.3250G>C c.2429G>C (p.Cys810Ser) n.3244G>C | |
X | g.53241872C>T | CA413149545 | IQSEC2 | c.3086G>A (p.Cys1029Tyr) c.879G>A c.388G>A c.217G>A c.2927G>A (p.Cys976Tyr) n.1234G>A c.2897G>A (p.Cys966Tyr) c.2312G>A (p.Cys771Tyr) c.3023G>A (p.Cys1008Tyr) c.2249G>A (p.Cys750Tyr) c.2216G>A (p.Cys739Tyr) n.3250G>A c.2429G>A (p.Cys810Tyr) n.3244G>A | |
X | g.53241873A>C | CA413149548 | IQSEC2 | c.3085T>G (p.Cys1029Gly) c.878T>G c.387T>G c.216T>G c.2926T>G (p.Cys976Gly) n.1233T>G c.2896T>G (p.Cys966Gly) c.2311T>G (p.Cys771Gly) c.3022T>G (p.Cys1008Gly) c.2248T>G (p.Cys750Gly) c.2215T>G (p.Cys739Gly) n.3249T>G c.2428T>G (p.Cys810Gly) n.3243T>G | |
X | g.53241873A>G | CA413149551 | IQSEC2 | c.3085T>C (p.Cys1029Arg) c.878T>C c.387T>C c.216T>C c.2926T>C (p.Cys976Arg) n.1233T>C c.2896T>C (p.Cys966Arg) c.2311T>C (p.Cys771Arg) c.3022T>C (p.Cys1008Arg) c.2248T>C (p.Cys750Arg) c.2215T>C (p.Cys739Arg) n.3249T>C c.2428T>C (p.Cys810Arg) n.3243T>C | |
X | g.53241873A>T | CA413149554 | IQSEC2 | c.3085T>A (p.Cys1029Ser) c.878T>A c.387T>A c.216T>A c.2926T>A (p.Cys976Ser) n.1233T>A c.2896T>A (p.Cys966Ser) c.2311T>A (p.Cys771Ser) c.3022T>A (p.Cys1008Ser) c.2248T>A (p.Cys750Ser) c.2215T>A (p.Cys739Ser) n.3249T>A c.2428T>A (p.Cys810Ser) n.3243T>A | |
X | g.53241874G>A | CA516425141 | IQSEC2 | c.3084C>T (p.Cys1028=) c.877C>T c.386C>T c.215C>T c.2925C>T (p.Cys975=) n.1232C>T c.2895C>T (p.Cys965=) c.2310C>T (p.Cys770=) c.3021C>T (p.Cys1007=) c.2247C>T (p.Cys749=) c.2214C>T (p.Cys738=) n.3248C>T c.2427C>T (p.Cys809=) n.3242C>T | |
X | g.53241874G>C | CA413149561 | IQSEC2 | c.3084C>G (p.Cys1028Trp) c.877C>G c.386C>G c.215C>G c.2925C>G (p.Cys975Trp) n.1232C>G c.2895C>G (p.Cys965Trp) c.2310C>G (p.Cys770Trp) c.3021C>G (p.Cys1007Trp) c.2247C>G (p.Cys749Trp) c.2214C>G (p.Cys738Trp) n.3248C>G c.2427C>G (p.Cys809Trp) n.3242C>G | |
X | g.53241874G>T | CA413149558 | IQSEC2 | c.3084C>A (p.Cys1028Ter) c.877C>A c.386C>A c.215C>A c.2925C>A (p.Cys975Ter) n.1232C>A c.2895C>A (p.Cys965Ter) c.2310C>A (p.Cys770Ter) c.3021C>A (p.Cys1007Ter) c.2247C>A (p.Cys749Ter) c.2214C>A (p.Cys738Ter) n.3248C>A c.2427C>A (p.Cys809Ter) n.3242C>A | |
X | g.53241875C>A | CA413149566 | IQSEC2 | c.3083G>T (p.Cys1028Phe) c.876G>T c.385G>T c.214G>T c.2924G>T (p.Cys975Phe) n.1231G>T c.2894G>T (p.Cys965Phe) c.2309G>T (p.Cys770Phe) c.3020G>T (p.Cys1007Phe) c.2246G>T (p.Cys749Phe) c.2213G>T (p.Cys738Phe) n.3247G>T c.2426G>T (p.Cys809Phe) n.3241G>T | |
X | g.53241875C= | CA2429772824 | IQSEC2 | c.3083G= (p.Cys1028=) c.876G= c.385G= c.214G= c.2924G= (p.Cys975=) n.1231G= c.2894G= (p.Cys965=) c.2309G= (p.Cys770=) c.3020G= (p.Cys1007=) c.2246G= (p.Cys749=) c.2213G= (p.Cys738=) n.3247G= c.2426G= (p.Cys809=) n.3241G= | |
X | g.53241875C>G | CA413149568 | IQSEC2 | c.3083G>C (p.Cys1028Ser) c.876G>C c.385G>C c.214G>C c.2924G>C (p.Cys975Ser) n.1231G>C c.2894G>C (p.Cys965Ser) c.2309G>C (p.Cys770Ser) c.3020G>C (p.Cys1007Ser) c.2246G>C (p.Cys749Ser) c.2213G>C (p.Cys738Ser) n.3247G>C c.2426G>C (p.Cys809Ser) n.3241G>C | |
X | g.53241875C>T | CA413149571 | IQSEC2 | c.3083G>A (p.Cys1028Tyr) c.876G>A c.385G>A c.214G>A c.2924G>A (p.Cys975Tyr) n.1231G>A c.2894G>A (p.Cys965Tyr) c.2309G>A (p.Cys770Tyr) c.3020G>A (p.Cys1007Tyr) c.2246G>A (p.Cys749Tyr) c.2213G>A (p.Cys738Tyr) n.3247G>A c.2426G>A (p.Cys809Tyr) n.3241G>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.53241876A>C | CA413149575 | IQSEC2 | c.3082T>G (p.Cys1028Gly) c.875T>G c.384T>G c.213T>G c.2923T>G (p.Cys975Gly) n.1230T>G c.2893T>G (p.Cys965Gly) c.2308T>G (p.Cys770Gly) c.3019T>G (p.Cys1007Gly) c.2245T>G (p.Cys749Gly) c.2212T>G (p.Cys738Gly) n.3246T>G c.2425T>G (p.Cys809Gly) n.3240T>G | |
X | g.53241876A>G | CA413149578 | IQSEC2 | c.3082T>C (p.Cys1028Arg) c.875T>C c.384T>C c.213T>C c.2923T>C (p.Cys975Arg) n.1230T>C c.2893T>C (p.Cys965Arg) c.2308T>C (p.Cys770Arg) c.3019T>C (p.Cys1007Arg) c.2245T>C (p.Cys749Arg) c.2212T>C (p.Cys738Arg) n.3246T>C c.2425T>C (p.Cys809Arg) n.3240T>C | COSMIC COSMIC COSMIC |
X | g.53241876A>T | CA413149580 | IQSEC2 | c.3082T>A (p.Cys1028Ser) c.875T>A c.384T>A c.213T>A c.2923T>A (p.Cys975Ser) n.1230T>A c.2893T>A (p.Cys965Ser) c.2308T>A (p.Cys770Ser) c.3019T>A (p.Cys1007Ser) c.2245T>A (p.Cys749Ser) c.2212T>A (p.Cys738Ser) n.3246T>A c.2425T>A (p.Cys809Ser) n.3240T>A | |
X | g.53241877G>A | CA516425158 | IQSEC2 | c.3081C>T (p.Cys1027=) c.874C>T c.383C>T c.212C>T c.2922C>T (p.Cys974=) n.1229C>T c.2892C>T (p.Cys964=) c.2307C>T (p.Cys769=) c.3018C>T (p.Cys1006=) c.2244C>T (p.Cys748=) c.2211C>T (p.Cys737=) n.3245C>T c.2424C>T (p.Cys808=) n.3239C>T | |
X | g.53241877G>C | CA413149588 | IQSEC2 | c.3081C>G (p.Cys1027Trp) c.874C>G c.383C>G c.212C>G c.2922C>G (p.Cys974Trp) n.1229C>G c.2892C>G (p.Cys964Trp) c.2307C>G (p.Cys769Trp) c.3018C>G (p.Cys1006Trp) c.2244C>G (p.Cys748Trp) c.2211C>G (p.Cys737Trp) n.3245C>G c.2424C>G (p.Cys808Trp) n.3239C>G | |
X | g.53241877G>T | CA413149585 | IQSEC2 | c.3081C>A (p.Cys1027Ter) c.874C>A c.383C>A c.212C>A c.2922C>A (p.Cys974Ter) n.1229C>A c.2892C>A (p.Cys964Ter) c.2307C>A (p.Cys769Ter) c.3018C>A (p.Cys1006Ter) c.2244C>A (p.Cys748Ter) c.2211C>A (p.Cys737Ter) n.3245C>A c.2424C>A (p.Cys808Ter) n.3239C>A | |
X | g.53241878C>A | CA413149592 | IQSEC2 | c.3080G>T (p.Cys1027Phe) c.873G>T c.382G>T c.211G>T c.2921G>T (p.Cys974Phe) n.1228G>T c.2891G>T (p.Cys964Phe) c.2306G>T (p.Cys769Phe) c.3017G>T (p.Cys1006Phe) c.2243G>T (p.Cys748Phe) c.2210G>T (p.Cys737Phe) n.3244G>T c.2423G>T (p.Cys808Phe) n.3238G>T | |
X | g.53241878C>G | CA413149595 | IQSEC2 | c.3080G>C (p.Cys1027Ser) c.873G>C c.382G>C c.211G>C c.2921G>C (p.Cys974Ser) n.1228G>C c.2891G>C (p.Cys964Ser) c.2306G>C (p.Cys769Ser) c.3017G>C (p.Cys1006Ser) c.2243G>C (p.Cys748Ser) c.2210G>C (p.Cys737Ser) n.3244G>C c.2423G>C (p.Cys808Ser) n.3238G>C | |
X | g.53241878C>T | CA413149599 | IQSEC2 | c.3080G>A (p.Cys1027Tyr) c.873G>A c.382G>A c.211G>A c.2921G>A (p.Cys974Tyr) n.1228G>A c.2891G>A (p.Cys964Tyr) c.2306G>A (p.Cys769Tyr) c.3017G>A (p.Cys1006Tyr) c.2243G>A (p.Cys748Tyr) c.2210G>A (p.Cys737Tyr) n.3244G>A c.2423G>A (p.Cys808Tyr) n.3238G>A | |
X | g.53241879A>C | CA413149604 | IQSEC2 | c.3079T>G (p.Cys1027Gly) c.872T>G c.381T>G c.210T>G c.2920T>G (p.Cys974Gly) n.1227T>G c.2890T>G (p.Cys964Gly) c.2305T>G (p.Cys769Gly) c.3016T>G (p.Cys1006Gly) c.2242T>G (p.Cys748Gly) c.2209T>G (p.Cys737Gly) n.3243T>G c.2422T>G (p.Cys808Gly) n.3237T>G | |
X | g.53241879A>G | CA413149608 | IQSEC2 | c.3079T>C (p.Cys1027Arg) c.872T>C c.381T>C c.210T>C c.2920T>C (p.Cys974Arg) n.1227T>C c.2890T>C (p.Cys964Arg) c.2305T>C (p.Cys769Arg) c.3016T>C (p.Cys1006Arg) c.2242T>C (p.Cys748Arg) c.2209T>C (p.Cys737Arg) n.3243T>C c.2422T>C (p.Cys808Arg) n.3237T>C | |
X | g.53241879A>T | CA413149612 | IQSEC2 | c.3079T>A (p.Cys1027Ser) c.872T>A c.381T>A c.210T>A c.2920T>A (p.Cys974Ser) n.1227T>A c.2890T>A (p.Cys964Ser) c.2305T>A (p.Cys769Ser) c.3016T>A (p.Cys1006Ser) c.2242T>A (p.Cys748Ser) c.2209T>A (p.Cys737Ser) n.3243T>A c.2422T>A (p.Cys808Ser) n.3237T>A | |
X | g.53241880A>C | CA516425193 | IQSEC2 | c.3078T>G (p.Val1026=) c.871T>G c.380T>G c.209T>G c.2919T>G (p.Val973=) n.1226T>G c.2889T>G (p.Val963=) c.2304T>G (p.Val768=) c.3015T>G (p.Val1005=) c.2241T>G (p.Val747=) c.2208T>G (p.Val736=) n.3242T>G c.2421T>G (p.Val807=) n.3236T>G | |
X | g.53241880A>G | CA516425194 | IQSEC2 | c.3078T>C (p.Val1026=) c.871T>C c.380T>C c.209T>C c.2919T>C (p.Val973=) n.1226T>C c.2889T>C (p.Val963=) c.2304T>C (p.Val768=) c.3015T>C (p.Val1005=) c.2241T>C (p.Val747=) c.2208T>C (p.Val736=) n.3242T>C c.2421T>C (p.Val807=) n.3236T>C | |
X | g.53241880A>T | CA516425195 | IQSEC2 | c.3078T>A (p.Val1026=) c.871T>A c.380T>A c.209T>A c.2919T>A (p.Val973=) n.1226T>A c.2889T>A (p.Val963=) c.2304T>A (p.Val768=) c.3015T>A (p.Val1005=) c.2241T>A (p.Val747=) c.2208T>A (p.Val736=) n.3242T>A c.2421T>A (p.Val807=) n.3236T>A | |
X | g.53241881A= | CA2429772825 | IQSEC2 | c.3077T= (p.Val1026=) c.870T= c.379T= c.208T= c.2918T= (p.Val973=) n.1225T= c.2888T= (p.Val963=) c.2303T= (p.Val768=) c.3014T= (p.Val1005=) c.2240T= (p.Val747=) c.2207T= (p.Val736=) n.3241T= c.2420T= (p.Val807=) n.3235T= | |
X | g.53241881A>C | CA413149620 | IQSEC2 | c.3077T>G (p.Val1026Gly) c.870T>G c.379T>G c.208T>G c.2918T>G (p.Val973Gly) n.1225T>G c.2888T>G (p.Val963Gly) c.2303T>G (p.Val768Gly) c.3014T>G (p.Val1005Gly) c.2240T>G (p.Val747Gly) c.2207T>G (p.Val736Gly) n.3241T>G c.2420T>G (p.Val807Gly) n.3235T>G | |
X | g.53241881A>G | CA10419875 | IQSEC2 | c.3077T>C (p.Val1026Ala) c.870T>C c.379T>C c.208T>C c.2918T>C (p.Val973Ala) n.1225T>C c.2888T>C (p.Val963Ala) c.2303T>C (p.Val768Ala) c.3014T>C (p.Val1005Ala) c.2240T>C (p.Val747Ala) c.2207T>C (p.Val736Ala) n.3241T>C c.2420T>C (p.Val807Ala) n.3235T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53241881A>T | CA413149622 | IQSEC2 | c.3077T>A (p.Val1026Asp) c.870T>A c.379T>A c.208T>A c.2918T>A (p.Val973Asp) n.1225T>A c.2888T>A (p.Val963Asp) c.2303T>A (p.Val768Asp) c.3014T>A (p.Val1005Asp) c.2240T>A (p.Val747Asp) c.2207T>A (p.Val736Asp) n.3241T>A c.2420T>A (p.Val807Asp) n.3235T>A | |
X | g.53241882C>A | CA413149630 | IQSEC2 | c.3076G>T (p.Val1026Phe) c.869G>T c.378G>T c.207G>T c.2917G>T (p.Val973Phe) n.1224G>T c.2887G>T (p.Val963Phe) c.2302G>T (p.Val768Phe) c.3013G>T (p.Val1005Phe) c.2239G>T (p.Val747Phe) c.2206G>T (p.Val736Phe) n.3240G>T c.2419G>T (p.Val807Phe) n.3234G>T | |
X | g.53241882C>G | CA413149634 | IQSEC2 | c.3076G>C (p.Val1026Leu) c.869G>C c.378G>C c.207G>C c.2917G>C (p.Val973Leu) n.1224G>C c.2887G>C (p.Val963Leu) c.2302G>C (p.Val768Leu) c.3013G>C (p.Val1005Leu) c.2239G>C (p.Val747Leu) c.2206G>C (p.Val736Leu) n.3240G>C c.2419G>C (p.Val807Leu) n.3234G>C | |
X | g.53241882C>T | CA413149635 | IQSEC2 | c.3076G>A (p.Val1026Ile) c.869G>A c.378G>A c.207G>A c.2917G>A (p.Val973Ile) n.1224G>A c.2887G>A (p.Val963Ile) c.2302G>A (p.Val768Ile) c.3013G>A (p.Val1005Ile) c.2239G>A (p.Val747Ile) c.2206G>A (p.Val736Ile) n.3240G>A c.2419G>A (p.Val807Ile) n.3234G>A | |
X | g.53241883C>A | CA516425216 | IQSEC2 | c.3075G>T (p.Leu1025=) c.868G>T c.377G>T c.206G>T c.2916G>T (p.Leu972=) n.1223G>T c.2886G>T (p.Leu962=) c.2301G>T (p.Leu767=) c.3012G>T (p.Leu1004=) c.2238G>T (p.Leu746=) c.2205G>T (p.Leu735=) n.3239G>T c.2418G>T (p.Leu806=) n.3233G>T | |
X | g.53241883C>G | CA516425221 | IQSEC2 | c.3075G>C (p.Leu1025=) c.868G>C c.377G>C c.206G>C c.2916G>C (p.Leu972=) n.1223G>C c.2886G>C (p.Leu962=) c.2301G>C (p.Leu767=) c.3012G>C (p.Leu1004=) c.2238G>C (p.Leu746=) c.2205G>C (p.Leu735=) n.3239G>C c.2418G>C (p.Leu806=) n.3233G>C | |
X | g.53241883C>T | CA516425219 | IQSEC2 | c.3075G>A (p.Leu1025=) c.868G>A c.377G>A c.206G>A c.2916G>A (p.Leu972=) n.1223G>A c.2886G>A (p.Leu962=) c.2301G>A (p.Leu767=) c.3012G>A (p.Leu1004=) c.2238G>A (p.Leu746=) c.2205G>A (p.Leu735=) n.3239G>A c.2418G>A (p.Leu806=) n.3233G>A | |
X | g.53241884A= | CA2429772826 | IQSEC2 | c.3074T= (p.Leu1025=) c.867T= c.376T= c.205T= c.2915T= (p.Leu972=) n.1222T= c.2885T= (p.Leu962=) c.2300T= (p.Leu767=) c.3011T= (p.Leu1004=) c.2237T= (p.Leu746=) c.2204T= (p.Leu735=) n.3238T= c.2417T= (p.Leu806=) n.3232T= | |
X | g.53241884A>C | CA413149636 | IQSEC2 | c.3074T>G (p.Leu1025Arg) c.867T>G c.376T>G c.205T>G c.2915T>G (p.Leu972Arg) n.1222T>G c.2885T>G (p.Leu962Arg) c.2300T>G (p.Leu767Arg) c.3011T>G (p.Leu1004Arg) c.2237T>G (p.Leu746Arg) c.2204T>G (p.Leu735Arg) n.3238T>G c.2417T>G (p.Leu806Arg) n.3232T>G | |
X | g.53241884A>G | CA413149637 | IQSEC2 | c.3074T>C (p.Leu1025Pro) c.867T>C c.376T>C c.205T>C c.2915T>C (p.Leu972Pro) n.1222T>C c.2885T>C (p.Leu962Pro) c.2300T>C (p.Leu767Pro) c.3011T>C (p.Leu1004Pro) c.2237T>C (p.Leu746Pro) c.2204T>C (p.Leu735Pro) n.3238T>C c.2417T>C (p.Leu806Pro) n.3232T>C | dbSNP |
X | g.53241884A>T | CA413149638 | IQSEC2 | c.3074T>A (p.Leu1025Gln) c.867T>A c.376T>A c.205T>A c.2915T>A (p.Leu972Gln) n.1222T>A c.2885T>A (p.Leu962Gln) c.2300T>A (p.Leu767Gln) c.3011T>A (p.Leu1004Gln) c.2237T>A (p.Leu746Gln) c.2204T>A (p.Leu735Gln) n.3238T>A c.2417T>A (p.Leu806Gln) n.3232T>A | |
X | g.53241885G>A | CA516425236 | IQSEC2 | c.3073C>T (p.Leu1025=) c.866C>T c.375C>T c.204C>T c.2914C>T (p.Leu972=) n.1221C>T c.2884C>T (p.Leu962=) c.2299C>T (p.Leu767=) c.3010C>T (p.Leu1004=) c.2236C>T (p.Leu746=) c.2203C>T (p.Leu735=) n.3237C>T c.2416C>T (p.Leu806=) n.3231C>T | gnomAD v4 |
X | g.53241885G>C | CA413149643 | IQSEC2 | c.3073C>G (p.Leu1025Val) c.866C>G c.375C>G c.204C>G c.2914C>G (p.Leu972Val) n.1221C>G c.2884C>G (p.Leu962Val) c.2299C>G (p.Leu767Val) c.3010C>G (p.Leu1004Val) c.2236C>G (p.Leu746Val) c.2203C>G (p.Leu735Val) n.3237C>G c.2416C>G (p.Leu806Val) n.3231C>G | |
X | g.53241885G>T | CA413149645 | IQSEC2 | c.3073C>A (p.Leu1025Met) c.866C>A c.375C>A c.204C>A c.2914C>A (p.Leu972Met) n.1221C>A c.2884C>A (p.Leu962Met) c.2299C>A (p.Leu767Met) c.3010C>A (p.Leu1004Met) c.2236C>A (p.Leu746Met) c.2203C>A (p.Leu735Met) n.3237C>A c.2416C>A (p.Leu806Met) n.3231C>A | |
X | g.53241886T>A | CA516425250 | IQSEC2 | c.3072A>T (p.Arg1024=) c.865A>T c.374A>T c.203A>T c.2913A>T (p.Arg971=) n.1220A>T c.2883A>T (p.Arg961=) c.2298A>T (p.Arg766=) c.3009A>T (p.Arg1003=) c.2235A>T (p.Arg745=) c.2202A>T (p.Arg734=) n.3236A>T c.2415A>T (p.Arg805=) n.3230A>T | gnomAD v4 |
X | g.53241886T>C | CA516425254 | IQSEC2 | c.3072A>G (p.Arg1024=) c.865A>G c.374A>G c.203A>G c.2913A>G (p.Arg971=) n.1220A>G c.2883A>G (p.Arg961=) c.2298A>G (p.Arg766=) c.3009A>G (p.Arg1003=) c.2235A>G (p.Arg745=) c.2202A>G (p.Arg734=) n.3236A>G c.2415A>G (p.Arg805=) n.3230A>G | |
X | g.53241886T>G | CA516425255 | IQSEC2 | c.3072A>C (p.Arg1024=) c.865A>C c.374A>C c.203A>C c.2913A>C (p.Arg971=) n.1220A>C c.2883A>C (p.Arg961=) c.2298A>C (p.Arg766=) c.3009A>C (p.Arg1003=) c.2235A>C (p.Arg745=) c.2202A>C (p.Arg734=) n.3236A>C c.2415A>C (p.Arg805=) n.3230A>C | |
X | g.53241887C>A | CA413149652 | IQSEC2 | c.3071G>T (p.Arg1024Leu) c.864G>T c.373G>T c.202G>T c.2912G>T (p.Arg971Leu) n.1219G>T c.2882G>T (p.Arg961Leu) c.2297G>T (p.Arg766Leu) c.3008G>T (p.Arg1003Leu) c.2234G>T (p.Arg745Leu) c.2201G>T (p.Arg734Leu) n.3235G>T c.2414G>T (p.Arg805Leu) n.3229G>T | |
X | g.53241887C>G | CA413149659 | IQSEC2 | c.3071G>C (p.Arg1024Pro) c.864G>C c.373G>C c.202G>C c.2912G>C (p.Arg971Pro) n.1219G>C c.2882G>C (p.Arg961Pro) c.2297G>C (p.Arg766Pro) c.3008G>C (p.Arg1003Pro) c.2234G>C (p.Arg745Pro) c.2201G>C (p.Arg734Pro) n.3235G>C c.2414G>C (p.Arg805Pro) n.3229G>C | |
X | g.53241887C>T | CA413149662 | IQSEC2 | c.3071G>A (p.Arg1024Gln) c.864G>A c.373G>A c.202G>A c.2912G>A (p.Arg971Gln) n.1219G>A c.2882G>A (p.Arg961Gln) c.2297G>A (p.Arg766Gln) c.3008G>A (p.Arg1003Gln) c.2234G>A (p.Arg745Gln) c.2201G>A (p.Arg734Gln) n.3235G>A c.2414G>A (p.Arg805Gln) n.3229G>A | |
X | g.53241888G>A | CA413149665 | IQSEC2 | c.3070C>T (p.Arg1024Ter) c.863C>T c.372C>T c.201C>T c.2911C>T (p.Arg971Ter) n.1218C>T c.2881C>T (p.Arg961Ter) c.2296C>T (p.Arg766Ter) c.3007C>T (p.Arg1003Ter) c.2233C>T (p.Arg745Ter) c.2200C>T (p.Arg734Ter) n.3234C>T c.2413C>T (p.Arg805Ter) n.3228C>T | ClinVar dbSNP COSMIC COSMIC COSMIC |
X | g.53241888G>C | CA413149668 | IQSEC2 | c.3070C>G (p.Arg1024Gly) c.863C>G c.372C>G c.201C>G c.2911C>G (p.Arg971Gly) n.1218C>G c.2881C>G (p.Arg961Gly) c.2296C>G (p.Arg766Gly) c.3007C>G (p.Arg1003Gly) c.2233C>G (p.Arg745Gly) c.2200C>G (p.Arg734Gly) n.3234C>G c.2413C>G (p.Arg805Gly) n.3228C>G | |
X | g.53241888G= | CA2429772827 | IQSEC2 | c.3070C= (p.Arg1024=) c.863C= c.372C= c.201C= c.2911C= (p.Arg971=) n.1218C= c.2881C= (p.Arg961=) c.2296C= (p.Arg766=) c.3007C= (p.Arg1003=) c.2233C= (p.Arg745=) c.2200C= (p.Arg734=) n.3234C= c.2413C= (p.Arg805=) n.3228C= | |
X | g.53241888G>T | CA516425260 | IQSEC2 | c.3070C>A (p.Arg1024=) c.863C>A c.372C>A c.201C>A c.2911C>A (p.Arg971=) n.1218C>A c.2881C>A (p.Arg961=) c.2296C>A (p.Arg766=) c.3007C>A (p.Arg1003=) c.2233C>A (p.Arg745=) c.2200C>A (p.Arg734=) n.3234C>A c.2413C>A (p.Arg805=) n.3228C>A | |
X | g.53241889A>C | CA516425261 | IQSEC2 | c.3069T>G (p.Arg1023=) c.862T>G c.371T>G c.200T>G c.2910T>G (p.Arg970=) n.1217T>G c.2880T>G (p.Arg960=) c.2295T>G (p.Arg765=) c.3006T>G (p.Arg1002=) c.2232T>G (p.Arg744=) c.2199T>G (p.Arg733=) n.3233T>G c.2412T>G (p.Arg804=) n.3227T>G | |
X | g.53241889A>G | CA516425263 | IQSEC2 | c.3069T>C (p.Arg1023=) c.862T>C c.371T>C c.200T>C c.2910T>C (p.Arg970=) n.1217T>C c.2880T>C (p.Arg960=) c.2295T>C (p.Arg765=) c.3006T>C (p.Arg1002=) c.2232T>C (p.Arg744=) c.2199T>C (p.Arg733=) n.3233T>C c.2412T>C (p.Arg804=) n.3227T>C | |
X | g.53241889A>T | CA516425266 | IQSEC2 | c.3069T>A (p.Arg1023=) c.862T>A c.371T>A c.200T>A c.2910T>A (p.Arg970=) n.1217T>A c.2880T>A (p.Arg960=) c.2295T>A (p.Arg765=) c.3006T>A (p.Arg1002=) c.2232T>A (p.Arg744=) c.2199T>A (p.Arg733=) n.3233T>A c.2412T>A (p.Arg804=) n.3227T>A | |
X | g.53241890C>A | CA413149681 | IQSEC2 | c.3068G>T (p.Arg1023Leu) c.861G>T c.370G>T c.199G>T c.2909G>T (p.Arg970Leu) n.1216G>T c.2879G>T (p.Arg960Leu) c.2294G>T (p.Arg765Leu) c.3005G>T (p.Arg1002Leu) c.2231G>T (p.Arg744Leu) c.2198G>T (p.Arg733Leu) n.3232G>T c.2411G>T (p.Arg804Leu) n.3226G>T | |
X | g.53241890C= | CA2429772828 | IQSEC2 | c.3068G= (p.Arg1023=) c.861G= c.370G= c.199G= c.2909G= (p.Arg970=) n.1216G= c.2879G= (p.Arg960=) c.2294G= (p.Arg765=) c.3005G= (p.Arg1002=) c.2231G= (p.Arg744=) c.2198G= (p.Arg733=) n.3232G= c.2411G= (p.Arg804=) n.3226G= | |
X | g.53241890C>G | CA413149672 | IQSEC2 | c.3068G>C (p.Arg1023Pro) c.861G>C c.370G>C c.199G>C c.2909G>C (p.Arg970Pro) n.1216G>C c.2879G>C (p.Arg960Pro) c.2294G>C (p.Arg765Pro) c.3005G>C (p.Arg1002Pro) c.2231G>C (p.Arg744Pro) c.2198G>C (p.Arg733Pro) n.3232G>C c.2411G>C (p.Arg804Pro) n.3226G>C | |
X | g.53241890C>T | CA413149676 | IQSEC2 | c.3068G>A (p.Arg1023His) c.861G>A c.370G>A c.199G>A c.2909G>A (p.Arg970His) n.1216G>A c.2879G>A (p.Arg960His) c.2294G>A (p.Arg765His) c.3005G>A (p.Arg1002His) c.2231G>A (p.Arg744His) c.2198G>A (p.Arg733His) n.3232G>A c.2411G>A (p.Arg804His) n.3226G>A | ClinVar dbSNP |
X | g.53241891G>A | CA413149688 | IQSEC2 | c.3067C>T (p.Arg1023Cys) c.860C>T c.369C>T c.198C>T c.2908C>T (p.Arg970Cys) n.1215C>T c.2878C>T (p.Arg960Cys) c.2293C>T (p.Arg765Cys) c.3004C>T (p.Arg1002Cys) c.2230C>T (p.Arg744Cys) c.2197C>T (p.Arg733Cys) n.3231C>T c.2410C>T (p.Arg804Cys) n.3225C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53241891G>C | CA413149691 | IQSEC2 | c.3067C>G (p.Arg1023Gly) c.860C>G c.369C>G c.198C>G c.2908C>G (p.Arg970Gly) n.1215C>G c.2878C>G (p.Arg960Gly) c.2293C>G (p.Arg765Gly) c.3004C>G (p.Arg1002Gly) c.2230C>G (p.Arg744Gly) c.2197C>G (p.Arg733Gly) n.3231C>G c.2410C>G (p.Arg804Gly) n.3225C>G | |
X | g.53241891G= | CA2429772829 | IQSEC2 | c.3067C= (p.Arg1023=) c.860C= c.369C= c.198C= c.2908C= (p.Arg970=) n.1215C= c.2878C= (p.Arg960=) c.2293C= (p.Arg765=) c.3004C= (p.Arg1002=) c.2230C= (p.Arg744=) c.2197C= (p.Arg733=) n.3231C= c.2410C= (p.Arg804=) n.3225C= | |
X | g.53241891G>T | CA413149693 | IQSEC2 | c.3067C>A (p.Arg1023Ser) c.860C>A c.369C>A c.198C>A c.2908C>A (p.Arg970Ser) n.1215C>A c.2878C>A (p.Arg960Ser) c.2293C>A (p.Arg765Ser) c.3004C>A (p.Arg1002Ser) c.2230C>A (p.Arg744Ser) c.2197C>A (p.Arg733Ser) n.3231C>A c.2410C>A (p.Arg804Ser) n.3225C>A | |
X | g.53241892G>A | CA516425282 | IQSEC2 | c.3066C>T (p.His1022=) c.859C>T c.368C>T c.197C>T c.2907C>T (p.His969=) n.1214C>T c.2877C>T (p.His959=) c.2292C>T (p.His764=) c.3003C>T (p.His1001=) c.2229C>T (p.His743=) c.2196C>T (p.His732=) n.3230C>T c.2409C>T (p.His803=) n.3224C>T | gnomAD v4 |
X | g.53241892G>C | CA413149695 | IQSEC2 | c.3066C>G (p.His1022Gln) c.859C>G c.368C>G c.197C>G c.2907C>G (p.His969Gln) n.1214C>G c.2877C>G (p.His959Gln) c.2292C>G (p.His764Gln) c.3003C>G (p.His1001Gln) c.2229C>G (p.His743Gln) c.2196C>G (p.His732Gln) n.3230C>G c.2409C>G (p.His803Gln) n.3224C>G | |
X | g.53241892G>T | CA413149698 | IQSEC2 | c.3066C>A (p.His1022Gln) c.859C>A c.368C>A c.197C>A c.2907C>A (p.His969Gln) n.1214C>A c.2877C>A (p.His959Gln) c.2292C>A (p.His764Gln) c.3003C>A (p.His1001Gln) c.2229C>A (p.His743Gln) c.2196C>A (p.His732Gln) n.3230C>A c.2409C>A (p.His803Gln) n.3224C>A | COSMIC COSMIC COSMIC |
X | g.53241893T>A | CA413149702 | IQSEC2 | c.3065A>T (p.His1022Leu) c.858A>T c.367A>T c.196A>T c.2906A>T (p.His969Leu) n.1213A>T c.2876A>T (p.His959Leu) c.2291A>T (p.His764Leu) c.3002A>T (p.His1001Leu) c.2228A>T (p.His743Leu) c.2195A>T (p.His732Leu) n.3229A>T c.2408A>T (p.His803Leu) n.3223A>T | |
X | g.53241893T>C | CA413149706 | IQSEC2 | c.3065A>G (p.His1022Arg) c.858A>G c.367A>G c.196A>G c.2906A>G (p.His969Arg) n.1213A>G c.2876A>G (p.His959Arg) c.2291A>G (p.His764Arg) c.3002A>G (p.His1001Arg) c.2228A>G (p.His743Arg) c.2195A>G (p.His732Arg) n.3229A>G c.2408A>G (p.His803Arg) n.3223A>G | gnomAD v4 |
X | g.53241893T>G | CA413149708 | IQSEC2 | c.3065A>C (p.His1022Pro) c.858A>C c.367A>C c.196A>C c.2906A>C (p.His969Pro) n.1213A>C c.2876A>C (p.His959Pro) c.2291A>C (p.His764Pro) c.3002A>C (p.His1001Pro) c.2228A>C (p.His743Pro) c.2195A>C (p.His732Pro) n.3229A>C c.2408A>C (p.His803Pro) n.3223A>C | |
X | g.53241894G>A | CA413149713 | IQSEC2 | c.3064C>T (p.His1022Tyr) c.857C>T c.366C>T c.195C>T c.2905C>T (p.His969Tyr) n.1212C>T c.2875C>T (p.His959Tyr) c.2290C>T (p.His764Tyr) c.3001C>T (p.His1001Tyr) c.2227C>T (p.His743Tyr) c.2194C>T (p.His732Tyr) n.3228C>T c.2407C>T (p.His803Tyr) n.3222C>T | |
X | g.53241894G>C | CA413149715 | IQSEC2 | c.3064C>G (p.His1022Asp) c.857C>G c.366C>G c.195C>G c.2905C>G (p.His969Asp) n.1212C>G c.2875C>G (p.His959Asp) c.2290C>G (p.His764Asp) c.3001C>G (p.His1001Asp) c.2227C>G (p.His743Asp) c.2194C>G (p.His732Asp) n.3228C>G c.2407C>G (p.His803Asp) n.3222C>G | |
X | g.53241894G>T | CA413149719 | IQSEC2 | c.3064C>A (p.His1022Asn) c.857C>A c.366C>A c.195C>A c.2905C>A (p.His969Asn) n.1212C>A c.2875C>A (p.His959Asn) c.2290C>A (p.His764Asn) c.3001C>A (p.His1001Asn) c.2227C>A (p.His743Asn) c.2194C>A (p.His732Asn) n.3228C>A c.2407C>A (p.His803Asn) n.3222C>A | |
X | g.53241895A>C | CA516425293 | IQSEC2 | c.3063T>G (p.Pro1021=) c.856T>G c.365T>G c.194T>G c.2904T>G (p.Pro968=) n.1211T>G c.2874T>G (p.Pro958=) c.2289T>G (p.Pro763=) c.3000T>G (p.Pro1000=) c.2226T>G (p.Pro742=) c.2193T>G (p.Pro731=) n.3227T>G c.2406T>G (p.Pro802=) n.3221T>G | |
X | g.53241895A>G | CA516425297 | IQSEC2 | c.3063T>C (p.Pro1021=) c.856T>C c.365T>C c.194T>C c.2904T>C (p.Pro968=) n.1211T>C c.2874T>C (p.Pro958=) c.2289T>C (p.Pro763=) c.3000T>C (p.Pro1000=) c.2226T>C (p.Pro742=) c.2193T>C (p.Pro731=) n.3227T>C c.2406T>C (p.Pro802=) n.3221T>C | |
X | g.53241895A>T | CA516425300 | IQSEC2 | c.3063T>A (p.Pro1021=) c.856T>A c.365T>A c.194T>A c.2904T>A (p.Pro968=) n.1211T>A c.2874T>A (p.Pro958=) c.2289T>A (p.Pro763=) c.3000T>A (p.Pro1000=) c.2226T>A (p.Pro742=) c.2193T>A (p.Pro731=) n.3227T>A c.2406T>A (p.Pro802=) n.3221T>A | |
X | g.53241896G>A | CA413149724 | IQSEC2 | c.3062C>T (p.Pro1021Leu) c.855C>T c.364C>T c.193C>T c.2903C>T (p.Pro968Leu) n.1210C>T c.2873C>T (p.Pro958Leu) c.2288C>T (p.Pro763Leu) c.2999C>T (p.Pro1000Leu) c.2225C>T (p.Pro742Leu) c.2192C>T (p.Pro731Leu) n.3226C>T c.2405C>T (p.Pro802Leu) n.3220C>T | |
X | g.53241896G>C | CA413149742 | IQSEC2 | c.3062C>G (p.Pro1021Arg) c.855C>G c.364C>G c.193C>G c.2903C>G (p.Pro968Arg) n.1210C>G c.2873C>G (p.Pro958Arg) c.2288C>G (p.Pro763Arg) c.2999C>G (p.Pro1000Arg) c.2225C>G (p.Pro742Arg) c.2192C>G (p.Pro731Arg) n.3226C>G c.2405C>G (p.Pro802Arg) n.3220C>G | |
X | g.53241896G>T | CA413149736 | IQSEC2 | c.3062C>A (p.Pro1021His) c.855C>A c.364C>A c.193C>A c.2903C>A (p.Pro968His) n.1210C>A c.2873C>A (p.Pro958His) c.2288C>A (p.Pro763His) c.2999C>A (p.Pro1000His) c.2225C>A (p.Pro742His) c.2192C>A (p.Pro731His) n.3226C>A c.2405C>A (p.Pro802His) n.3220C>A | |
X | g.53241897G>A | CA413149747 | IQSEC2 | c.3061C>T (p.Pro1021Ser) c.854C>T c.363C>T c.192C>T c.2902C>T (p.Pro968Ser) n.1209C>T c.2872C>T (p.Pro958Ser) c.2287C>T (p.Pro763Ser) c.2998C>T (p.Pro1000Ser) c.2224C>T (p.Pro742Ser) c.2191C>T (p.Pro731Ser) n.3225C>T c.2404C>T (p.Pro802Ser) n.3219C>T | |
X | g.53241897G>C | CA413149748 | IQSEC2 | c.3061C>G (p.Pro1021Ala) c.854C>G c.363C>G c.192C>G c.2902C>G (p.Pro968Ala) n.1209C>G c.2872C>G (p.Pro958Ala) c.2287C>G (p.Pro763Ala) c.2998C>G (p.Pro1000Ala) c.2224C>G (p.Pro742Ala) c.2191C>G (p.Pro731Ala) n.3225C>G c.2404C>G (p.Pro802Ala) n.3219C>G | |
X | g.53241897G>T | CA413149751 | IQSEC2 | c.3061C>A (p.Pro1021Thr) c.854C>A c.363C>A c.192C>A c.2902C>A (p.Pro968Thr) n.1209C>A c.2872C>A (p.Pro958Thr) c.2287C>A (p.Pro763Thr) c.2998C>A (p.Pro1000Thr) c.2224C>A (p.Pro742Thr) c.2191C>A (p.Pro731Thr) n.3225C>A c.2404C>A (p.Pro802Thr) n.3219C>A | |
X | g.53241898G>A | CA516425305 | IQSEC2 | c.3060C>T (p.Leu1020=) c.853C>T c.362C>T c.191C>T c.2901C>T (p.Leu967=) n.1208C>T c.2871C>T (p.Leu957=) c.2286C>T (p.Leu762=) c.2997C>T (p.Leu999=) c.2223C>T (p.Leu741=) c.2190C>T (p.Leu730=) n.3224C>T c.2403C>T (p.Leu801=) n.3218C>T | |
X | g.53241898G>C | CA516425307 | IQSEC2 | c.3060C>G (p.Leu1020=) c.853C>G c.362C>G c.191C>G c.2901C>G (p.Leu967=) n.1208C>G c.2871C>G (p.Leu957=) c.2286C>G (p.Leu762=) c.2997C>G (p.Leu999=) c.2223C>G (p.Leu741=) c.2190C>G (p.Leu730=) n.3224C>G c.2403C>G (p.Leu801=) n.3218C>G | |
X | g.53241898G>T | CA516425310 | IQSEC2 | c.3060C>A (p.Leu1020=) c.853C>A c.362C>A c.191C>A c.2901C>A (p.Leu967=) n.1208C>A c.2871C>A (p.Leu957=) c.2286C>A (p.Leu762=) c.2997C>A (p.Leu999=) c.2223C>A (p.Leu741=) c.2190C>A (p.Leu730=) n.3224C>A c.2403C>A (p.Leu801=) n.3218C>A | |
X | g.53241899A= | CA2429772830 | IQSEC2 | c.3059T= (p.Leu1020=) c.852T= c.361T= c.190T= c.2900T= (p.Leu967=) n.1207T= c.2870T= (p.Leu957=) c.2285T= (p.Leu762=) c.2996T= (p.Leu999=) c.2222T= (p.Leu741=) c.2189T= (p.Leu730=) n.3223T= c.2402T= (p.Leu801=) n.3217T= | |
X | g.53241899A>C | CA413149756 | IQSEC2 | c.3059T>G (p.Leu1020Arg) c.852T>G c.361T>G c.190T>G c.2900T>G (p.Leu967Arg) n.1207T>G c.2870T>G (p.Leu957Arg) c.2285T>G (p.Leu762Arg) c.2996T>G (p.Leu999Arg) c.2222T>G (p.Leu741Arg) c.2189T>G (p.Leu730Arg) n.3223T>G c.2402T>G (p.Leu801Arg) n.3217T>G | |
X | g.53241899A>G | CA413149760 | IQSEC2 | c.3059T>C (p.Leu1020Pro) c.852T>C c.361T>C c.190T>C c.2900T>C (p.Leu967Pro) n.1207T>C c.2870T>C (p.Leu957Pro) c.2285T>C (p.Leu762Pro) c.2996T>C (p.Leu999Pro) c.2222T>C (p.Leu741Pro) c.2189T>C (p.Leu730Pro) n.3223T>C c.2402T>C (p.Leu801Pro) n.3217T>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.53241899A>T | CA413149763 | IQSEC2 | c.3059T>A (p.Leu1020His) c.852T>A c.361T>A c.190T>A c.2900T>A (p.Leu967His) n.1207T>A c.2870T>A (p.Leu957His) c.2285T>A (p.Leu762His) c.2996T>A (p.Leu999His) c.2222T>A (p.Leu741His) c.2189T>A (p.Leu730His) n.3223T>A c.2402T>A (p.Leu801His) n.3217T>A | |
X | g.53241900G>A | CA413149783 | IQSEC2 | c.3058C>T (p.Leu1020Phe) c.851C>T c.360C>T c.189C>T c.2899C>T (p.Leu967Phe) n.1206C>T c.2869C>T (p.Leu957Phe) c.2284C>T (p.Leu762Phe) c.2995C>T (p.Leu999Phe) c.2221C>T (p.Leu741Phe) c.2188C>T (p.Leu730Phe) n.3222C>T c.2401C>T (p.Leu801Phe) n.3216C>T | gnomAD v4 |
X | g.53241900G>C | CA413149779 | IQSEC2 | c.3058C>G (p.Leu1020Val) c.851C>G c.360C>G c.189C>G c.2899C>G (p.Leu967Val) n.1206C>G c.2869C>G (p.Leu957Val) c.2284C>G (p.Leu762Val) c.2995C>G (p.Leu999Val) c.2221C>G (p.Leu741Val) c.2188C>G (p.Leu730Val) n.3222C>G c.2401C>G (p.Leu801Val) n.3216C>G | |
X | g.53241900G>T | CA413149768 | IQSEC2 | c.3058C>A (p.Leu1020Ile) c.851C>A c.360C>A c.189C>A c.2899C>A (p.Leu967Ile) n.1206C>A c.2869C>A (p.Leu957Ile) c.2284C>A (p.Leu762Ile) c.2995C>A (p.Leu999Ile) c.2221C>A (p.Leu741Ile) c.2188C>A (p.Leu730Ile) n.3222C>A c.2401C>A (p.Leu801Ile) n.3216C>A | |
X | g.53241901A>C | CA516425331 | IQSEC2 | c.3057T>G (p.Ser1019=) c.850T>G c.359T>G c.188T>G c.2898T>G (p.Ser966=) n.1205T>G c.2868T>G (p.Ser956=) c.2283T>G (p.Ser761=) c.2994T>G (p.Ser998=) c.2220T>G (p.Ser740=) c.2187T>G (p.Ser729=) n.3221T>G c.2400T>G (p.Ser800=) n.3215T>G | |
X | g.53241901A>G | CA516425334 | IQSEC2 | c.3057T>C (p.Ser1019=) c.850T>C c.359T>C c.188T>C c.2898T>C (p.Ser966=) n.1205T>C c.2868T>C (p.Ser956=) c.2283T>C (p.Ser761=) c.2994T>C (p.Ser998=) c.2220T>C (p.Ser740=) c.2187T>C (p.Ser729=) n.3221T>C c.2400T>C (p.Ser800=) n.3215T>C | |
X | g.53241901A>T | CA516425337 | IQSEC2 | c.3057T>A (p.Ser1019=) c.850T>A c.359T>A c.188T>A c.2898T>A (p.Ser966=) n.1205T>A c.2868T>A (p.Ser956=) c.2283T>A (p.Ser761=) c.2994T>A (p.Ser998=) c.2220T>A (p.Ser740=) c.2187T>A (p.Ser729=) n.3221T>A c.2400T>A (p.Ser800=) n.3215T>A | |
X | g.53241908_53241918del | CA2695234292 | IQSEC2 | c.3049-2_3057del c.842-2_850del c.351-2_359del c.180-2_188del c.2890-2_2898del n.1195_1205del c.2860-2_2868del c.2275-2_2283del c.2986-2_2994del c.2212-2_2220del c.2179-2_2187del n.3213-2_3221del c.2392-2_2400del n.3207-2_3215del | |
X | g.53241902G>A | CA413149789 | IQSEC2 | c.3056C>T (p.Ser1019Phe) c.849C>T c.358C>T c.187C>T c.2897C>T (p.Ser966Phe) n.1204C>T c.2867C>T (p.Ser956Phe) c.2282C>T (p.Ser761Phe) c.2993C>T (p.Ser998Phe) c.2219C>T (p.Ser740Phe) c.2186C>T (p.Ser729Phe) n.3220C>T c.2399C>T (p.Ser800Phe) n.3214C>T | |
X | g.53241902G>C | CA413149792 | IQSEC2 | c.3056C>G (p.Ser1019Cys) c.849C>G c.358C>G c.187C>G c.2897C>G (p.Ser966Cys) n.1204C>G c.2867C>G (p.Ser956Cys) c.2282C>G (p.Ser761Cys) c.2993C>G (p.Ser998Cys) c.2219C>G (p.Ser740Cys) c.2186C>G (p.Ser729Cys) n.3220C>G c.2399C>G (p.Ser800Cys) n.3214C>G | gnomAD v4 |
X | g.53241902G>T | CA413149795 | IQSEC2 | c.3056C>A (p.Ser1019Tyr) c.849C>A c.358C>A c.187C>A c.2897C>A (p.Ser966Tyr) n.1204C>A c.2867C>A (p.Ser956Tyr) c.2282C>A (p.Ser761Tyr) c.2993C>A (p.Ser998Tyr) c.2219C>A (p.Ser740Tyr) c.2186C>A (p.Ser729Tyr) n.3220C>A c.2399C>A (p.Ser800Tyr) n.3214C>A | |
X | g.53241903A>C | CA413149800 | IQSEC2 | c.3055T>G (p.Ser1019Ala) c.848T>G c.357T>G c.186T>G c.2896T>G (p.Ser966Ala) n.1203T>G c.2866T>G (p.Ser956Ala) c.2281T>G (p.Ser761Ala) c.2992T>G (p.Ser998Ala) c.2218T>G (p.Ser740Ala) c.2185T>G (p.Ser729Ala) n.3219T>G c.2398T>G (p.Ser800Ala) n.3213T>G | |
X | g.53241903A>G | CA413149803 | IQSEC2 | c.3055T>C (p.Ser1019Pro) c.848T>C c.357T>C c.186T>C c.2896T>C (p.Ser966Pro) n.1203T>C c.2866T>C (p.Ser956Pro) c.2281T>C (p.Ser761Pro) c.2992T>C (p.Ser998Pro) c.2218T>C (p.Ser740Pro) c.2185T>C (p.Ser729Pro) n.3219T>C c.2398T>C (p.Ser800Pro) n.3213T>C | gnomAD v4 |
X | g.53241903A>T | CA413149806 | IQSEC2 | c.3055T>A (p.Ser1019Thr) c.848T>A c.357T>A c.186T>A c.2896T>A (p.Ser966Thr) n.1203T>A c.2866T>A (p.Ser956Thr) c.2281T>A (p.Ser761Thr) c.2992T>A (p.Ser998Thr) c.2218T>A (p.Ser740Thr) c.2185T>A (p.Ser729Thr) n.3219T>A c.2398T>A (p.Ser800Thr) n.3213T>A | |
X | g.53241904C>A | CA516425351 | IQSEC2 | c.3054G>T (p.Leu1018=) c.847G>T c.356G>T c.185G>T c.2895G>T (p.Leu965=) n.1202G>T c.2865G>T (p.Leu955=) c.2280G>T (p.Leu760=) c.2991G>T (p.Leu997=) c.2217G>T (p.Leu739=) c.2184G>T (p.Leu728=) n.3218G>T c.2397G>T (p.Leu799=) n.3212G>T | |
X | g.53241904C>G | CA516425353 | IQSEC2 | c.3054G>C (p.Leu1018=) c.847G>C c.356G>C c.185G>C c.2895G>C (p.Leu965=) n.1202G>C c.2865G>C (p.Leu955=) c.2280G>C (p.Leu760=) c.2991G>C (p.Leu997=) c.2217G>C (p.Leu739=) c.2184G>C (p.Leu728=) n.3218G>C c.2397G>C (p.Leu799=) n.3212G>C | |
X | g.53241904C>T | CA516425356 | IQSEC2 | c.3054G>A (p.Leu1018=) c.847G>A c.356G>A c.185G>A c.2895G>A (p.Leu965=) n.1202G>A c.2865G>A (p.Leu955=) c.2280G>A (p.Leu760=) c.2991G>A (p.Leu997=) c.2217G>A (p.Leu739=) c.2184G>A (p.Leu728=) n.3218G>A c.2397G>A (p.Leu799=) n.3212G>A | |
X | g.53241905A= | CA2429772831 | IQSEC2 | c.3053T= (p.Leu1018=) c.846T= c.355T= c.184T= c.2894T= (p.Leu965=) n.1201T= c.2864T= (p.Leu955=) c.2279T= (p.Leu760=) c.2990T= (p.Leu997=) c.2216T= (p.Leu739=) c.2183T= (p.Leu728=) n.3217T= c.2396T= (p.Leu799=) n.3211T= | |
X | g.53241905A>C | CA413149809 | IQSEC2 | c.3053T>G (p.Leu1018Arg) c.846T>G c.355T>G c.184T>G c.2894T>G (p.Leu965Arg) n.1201T>G c.2864T>G (p.Leu955Arg) c.2279T>G (p.Leu760Arg) c.2990T>G (p.Leu997Arg) c.2216T>G (p.Leu739Arg) c.2183T>G (p.Leu728Arg) n.3217T>G c.2396T>G (p.Leu799Arg) n.3211T>G | |
X | g.53241905A>G | CA413149816 | IQSEC2 | c.3053T>C (p.Leu1018Pro) c.846T>C c.355T>C c.184T>C c.2894T>C (p.Leu965Pro) n.1201T>C c.2864T>C (p.Leu955Pro) c.2279T>C (p.Leu760Pro) c.2990T>C (p.Leu997Pro) c.2216T>C (p.Leu739Pro) c.2183T>C (p.Leu728Pro) n.3217T>C c.2396T>C (p.Leu799Pro) n.3211T>C | ClinVar dbSNP |
X | g.53241905A>T | CA413149813 | IQSEC2 | c.3053T>A (p.Leu1018Gln) c.846T>A c.355T>A c.184T>A c.2894T>A (p.Leu965Gln) n.1201T>A c.2864T>A (p.Leu955Gln) c.2279T>A (p.Leu760Gln) c.2990T>A (p.Leu997Gln) c.2216T>A (p.Leu739Gln) c.2183T>A (p.Leu728Gln) n.3217T>A c.2396T>A (p.Leu799Gln) n.3211T>A | |
X | g.53241906G>A | CA516425364 | IQSEC2 | c.3052C>T (p.Leu1018=) c.845C>T c.354C>T c.183C>T c.2893C>T (p.Leu965=) n.1200C>T c.2863C>T (p.Leu955=) c.2278C>T (p.Leu760=) c.2989C>T (p.Leu997=) c.2215C>T (p.Leu739=) c.2182C>T (p.Leu728=) n.3216C>T c.2395C>T (p.Leu799=) n.3210C>T | gnomAD v4 |
X | g.53241906G>C | CA413149817 | IQSEC2 | c.3052C>G (p.Leu1018Val) c.845C>G c.354C>G c.183C>G c.2893C>G (p.Leu965Val) n.1200C>G c.2863C>G (p.Leu955Val) c.2278C>G (p.Leu760Val) c.2989C>G (p.Leu997Val) c.2215C>G (p.Leu739Val) c.2182C>G (p.Leu728Val) n.3216C>G c.2395C>G (p.Leu799Val) n.3210C>G | |
X | g.53241906G>T | CA413149820 | IQSEC2 | c.3052C>A (p.Leu1018Met) c.845C>A c.354C>A c.183C>A c.2893C>A (p.Leu965Met) n.1200C>A c.2863C>A (p.Leu955Met) c.2278C>A (p.Leu760Met) c.2989C>A (p.Leu997Met) c.2215C>A (p.Leu739Met) c.2182C>A (p.Leu728Met) n.3216C>A c.2395C>A (p.Leu799Met) n.3210C>A | |
X | g.53241907G>A | CA516425369 | IQSEC2 | c.3051C>T (p.Val1017=) c.844C>T c.353C>T c.182C>T c.2892C>T (p.Val964=) n.1199C>T c.2862C>T (p.Val954=) c.2277C>T (p.Val759=) c.2988C>T (p.Val996=) c.2214C>T (p.Val738=) c.2181C>T (p.Val727=) n.3215C>T c.2394C>T (p.Val798=) n.3209C>T | gnomAD v4 |
X | g.53241907G>C | CA516425372 | IQSEC2 | c.3051C>G (p.Val1017=) c.844C>G c.353C>G c.182C>G c.2892C>G (p.Val964=) n.1199C>G c.2862C>G (p.Val954=) c.2277C>G (p.Val759=) c.2988C>G (p.Val996=) c.2214C>G (p.Val738=) c.2181C>G (p.Val727=) n.3215C>G c.2394C>G (p.Val798=) n.3209C>G | |
X | g.53241907G>T | CA516425373 | IQSEC2 | c.3051C>A (p.Val1017=) c.844C>A c.353C>A c.182C>A c.2892C>A (p.Val964=) n.1199C>A c.2862C>A (p.Val954=) c.2277C>A (p.Val759=) c.2988C>A (p.Val996=) c.2214C>A (p.Val738=) c.2181C>A (p.Val727=) n.3215C>A c.2394C>A (p.Val798=) n.3209C>A | |
X | g.53241908A>C | CA413149828 | IQSEC2 | c.3050T>G (p.Val1017Gly) c.843T>G c.352T>G c.181T>G c.2891T>G (p.Val964Gly) n.1198T>G c.2861T>G (p.Val954Gly) c.2276T>G (p.Val759Gly) c.2987T>G (p.Val996Gly) c.2213T>G (p.Val738Gly) c.2180T>G (p.Val727Gly) n.3214T>G c.2393T>G (p.Val798Gly) n.3208T>G | |
X | g.53241908A>G | CA413149829 | IQSEC2 | c.3050T>C (p.Val1017Ala) c.843T>C c.352T>C c.181T>C c.2891T>C (p.Val964Ala) n.1198T>C c.2861T>C (p.Val954Ala) c.2276T>C (p.Val759Ala) c.2987T>C (p.Val996Ala) c.2213T>C (p.Val738Ala) c.2180T>C (p.Val727Ala) n.3214T>C c.2393T>C (p.Val798Ala) n.3208T>C | |
X | g.53241908A>T | CA413149831 | IQSEC2 | c.3050T>A (p.Val1017Asp) c.843T>A c.352T>A c.181T>A c.2891T>A (p.Val964Asp) n.1198T>A c.2861T>A (p.Val954Asp) c.2276T>A (p.Val759Asp) c.2987T>A (p.Val996Asp) c.2213T>A (p.Val738Asp) c.2180T>A (p.Val727Asp) n.3214T>A c.2393T>A (p.Val798Asp) n.3208T>A | |
X | g.53241909C>A | CA413149834 | IQSEC2 | c.3049G>T (p.Val1017Phe) c.842G>T c.351G>T c.180G>T c.2890G>T (p.Val964Phe) n.1197G>T c.2860G>T (p.Val954Phe) c.2275G>T (p.Val759Phe) c.2986G>T (p.Val996Phe) c.2212G>T (p.Val738Phe) c.2179G>T (p.Val727Phe) n.3213G>T c.2392G>T (p.Val798Phe) n.3207G>T | |
X | g.53241909C>G | CA413149836 | IQSEC2 | c.3049G>C (p.Val1017Leu) c.842G>C c.351G>C c.180G>C c.2890G>C (p.Val964Leu) n.1197G>C c.2860G>C (p.Val954Leu) c.2275G>C (p.Val759Leu) c.2986G>C (p.Val996Leu) c.2212G>C (p.Val738Leu) c.2179G>C (p.Val727Leu) n.3213G>C c.2392G>C (p.Val798Leu) n.3207G>C | gnomAD v4 |
X | g.53241909C>T | CA413149838 | IQSEC2 | c.3049G>A (p.Val1017Ile) c.842G>A c.351G>A c.180G>A c.2890G>A (p.Val964Ile) n.1197G>A c.2860G>A (p.Val954Ile) c.2275G>A (p.Val759Ile) c.2986G>A (p.Val996Ile) c.2212G>A (p.Val738Ile) c.2179G>A (p.Val727Ile) n.3213G>A c.2392G>A (p.Val798Ile) n.3207G>A | |
X | g.53241910C>A | CA413149841 | IQSEC2 | c.3049-1G>T (n.3049-1G>T) c.842-1G>T c.351-1G>T c.180-1G>T c.2890-1G>T (n.2890-1G>T) n.1196G>T c.2860-1G>T (n.2860-1G>T) c.2275-1G>T (n.2275-1G>T) c.2986-1G>T (n.2986-1G>T) c.2212-1G>T (n.2212-1G>T) c.2179-1G>T (n.2179-1G>T) n.3213-1G>T c.2392-1G>T (n.2392-1G>T) n.3207-1G>T | |
X | g.53241910C>G | CA413149846 | IQSEC2 | c.3049-1G>C (n.3049-1G>C) c.842-1G>C c.351-1G>C c.180-1G>C c.2890-1G>C (n.2890-1G>C) n.1196G>C c.2860-1G>C (n.2860-1G>C) c.2275-1G>C (n.2275-1G>C) c.2986-1G>C (n.2986-1G>C) c.2212-1G>C (n.2212-1G>C) c.2179-1G>C (n.2179-1G>C) n.3213-1G>C c.2392-1G>C (n.2392-1G>C) n.3207-1G>C | |
X | g.53241910C>T | CA413149849 | IQSEC2 | c.3049-1G>A (n.3049-1G>A) c.842-1G>A c.351-1G>A c.180-1G>A c.2890-1G>A (n.2890-1G>A) n.1196G>A c.2860-1G>A (n.2860-1G>A) c.2275-1G>A (n.2275-1G>A) c.2986-1G>A (n.2986-1G>A) c.2212-1G>A (n.2212-1G>A) c.2179-1G>A (n.2179-1G>A) n.3213-1G>A c.2392-1G>A (n.2392-1G>A) n.3207-1G>A | |
X | g.53241911T>A | CA413149854 | IQSEC2 | c.3049-2A>T (n.3049-2A>T) c.842-2A>T c.351-2A>T c.180-2A>T c.2890-2A>T (n.2890-2A>T) n.1195A>T c.2860-2A>T (n.2860-2A>T) c.2275-2A>T (n.2275-2A>T) c.2986-2A>T (n.2986-2A>T) c.2212-2A>T (n.2212-2A>T) c.2179-2A>T (n.2179-2A>T) n.3213-2A>T c.2392-2A>T (n.2392-2A>T) n.3207-2A>T | |
X | g.53241911T>C | CA413149860 | IQSEC2 | c.3049-2A>G (n.3049-2A>G) c.842-2A>G c.351-2A>G c.180-2A>G c.2890-2A>G (n.2890-2A>G) n.1195A>G c.2860-2A>G (n.2860-2A>G) c.2275-2A>G (n.2275-2A>G) c.2986-2A>G (n.2986-2A>G) c.2212-2A>G (n.2212-2A>G) c.2179-2A>G (n.2179-2A>G) n.3213-2A>G c.2392-2A>G (n.2392-2A>G) n.3207-2A>G | |
X | g.53241911T>G | CA413149857 | IQSEC2 | c.3049-2A>C (n.3049-2A>C) c.842-2A>C c.351-2A>C c.180-2A>C c.2890-2A>C (n.2890-2A>C) n.1195A>C c.2860-2A>C (n.2860-2A>C) c.2275-2A>C (n.2275-2A>C) c.2986-2A>C (n.2986-2A>C) c.2212-2A>C (n.2212-2A>C) c.2179-2A>C (n.2179-2A>C) n.3213-2A>C c.2392-2A>C (n.2392-2A>C) n.3207-2A>C | |
X | g.53241912A>C | CA2573055361 | IQSEC2 | c.3049-3T>G (n.3049-3T>G) c.842-3T>G c.351-3T>G c.180-3T>G c.2890-3T>G (n.2890-3T>G) n.1194T>G c.2860-3T>G (n.2860-3T>G) c.2275-3T>G (n.2275-3T>G) c.2986-3T>G (n.2986-3T>G) c.2212-3T>G (n.2212-3T>G) c.2179-3T>G (n.2179-3T>G) n.3213-3T>G c.2392-3T>G (n.2392-3T>G) n.3207-3T>G | ClinVar dbSNP |
X | g.53241913G>A | CA2693796593 | IQSEC2 | c.3049-4C>T (n.3049-4C>T) c.842-4C>T c.351-4C>T c.180-4C>T c.2890-4C>T (n.2890-4C>T) n.1193C>T c.2860-4C>T (n.2860-4C>T) c.2275-4C>T (n.2275-4C>T) c.2986-4C>T (n.2986-4C>T) c.2212-4C>T (n.2212-4C>T) c.2179-4C>T (n.2179-4C>T) n.3213-4C>T c.2392-4C>T (n.2392-4C>T) n.3207-4C>T | gnomAD v4 |
X | g.53241914A>G | CA2693796595 | IQSEC2 | c.3049-5T>C (n.3049-5T>C) c.842-5T>C c.351-5T>C c.180-5T>C c.2890-5T>C (n.2890-5T>C) n.1192T>C c.2860-5T>C (n.2860-5T>C) c.2275-5T>C (n.2275-5T>C) c.2986-5T>C (n.2986-5T>C) c.2212-5T>C (n.2212-5T>C) c.2179-5T>C (n.2179-5T>C) n.3213-5T>C c.2392-5T>C (n.2392-5T>C) n.3207-5T>C | gnomAD v4 |
X | g.53241915C>A | CA2820950735 | IQSEC2 | c.3049-6G>T (n.3049-6G>T) c.842-6G>T c.351-6G>T c.180-6G>T c.2890-6G>T (n.2890-6G>T) n.1191G>T c.2860-6G>T (n.2860-6G>T) c.2275-6G>T (n.2275-6G>T) c.2986-6G>T (n.2986-6G>T) c.2212-6G>T (n.2212-6G>T) c.2179-6G>T (n.2179-6G>T) n.3213-6G>T c.2392-6G>T (n.2392-6G>T) n.3207-6G>T | |
X | g.53241915C= | CA2429772832 | IQSEC2 | c.3049-6G= (n.3049-6G=) c.842-6G= c.351-6G= c.180-6G= c.2890-6G= (n.2890-6G=) n.1191G= c.2860-6G= (n.2860-6G=) c.2275-6G= (n.2275-6G=) c.2986-6G= (n.2986-6G=) c.2212-6G= (n.2212-6G=) c.2179-6G= (n.2179-6G=) n.3213-6G= c.2392-6G= (n.2392-6G=) n.3207-6G= | |
X | g.53241915C>G | CA2693796596 | IQSEC2 | c.3049-6G>C (n.3049-6G>C) c.842-6G>C c.351-6G>C c.180-6G>C c.2890-6G>C (n.2890-6G>C) n.1191G>C c.2860-6G>C (n.2860-6G>C) c.2275-6G>C (n.2275-6G>C) c.2986-6G>C (n.2986-6G>C) c.2212-6G>C (n.2212-6G>C) c.2179-6G>C (n.2179-6G>C) n.3213-6G>C c.2392-6G>C (n.2392-6G>C) n.3207-6G>C | gnomAD v4 |
X | g.53241915C>T | CA10419876 | IQSEC2 | c.3049-6G>A (n.3049-6G>A) c.842-6G>A c.351-6G>A c.180-6G>A c.2890-6G>A (n.2890-6G>A) n.1191G>A c.2860-6G>A (n.2860-6G>A) c.2275-6G>A (n.2275-6G>A) c.2986-6G>A (n.2986-6G>A) c.2212-6G>A (n.2212-6G>A) c.2179-6G>A (n.2179-6G>A) n.3213-6G>A c.2392-6G>A (n.2392-6G>A) n.3207-6G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53241917G>A | CA2693796598 | IQSEC2 | c.3049-8C>T (n.3049-8C>T) c.842-8C>T c.351-8C>T c.180-8C>T c.2890-8C>T (n.2890-8C>T) n.1189C>T c.2860-8C>T (n.2860-8C>T) c.2275-8C>T (n.2275-8C>T) c.2986-8C>T (n.2986-8C>T) c.2212-8C>T (n.2212-8C>T) c.2179-8C>T (n.2179-8C>T) n.3213-8C>T c.2392-8C>T (n.2392-8C>T) n.3207-8C>T | gnomAD v4 |
X | g.53241918G>A | CA2429772834 | IQSEC2 | c.3049-9C>T (n.3049-9C>T) c.842-9C>T c.351-9C>T c.180-9C>T c.2890-9C>T (n.2890-9C>T) n.1188C>T c.2860-9C>T (n.2860-9C>T) c.2275-9C>T (n.2275-9C>T) c.2986-9C>T (n.2986-9C>T) c.2212-9C>T (n.2212-9C>T) c.2179-9C>T (n.2179-9C>T) n.3213-9C>T c.2392-9C>T (n.2392-9C>T) n.3207-9C>T | ClinVar dbSNP |
X | g.53241918G= | CA2429772833 | IQSEC2 | c.3049-9C= (n.3049-9C=) c.842-9C= c.351-9C= c.180-9C= c.2890-9C= (n.2890-9C=) n.1188C= c.2860-9C= (n.2860-9C=) c.2275-9C= (n.2275-9C=) c.2986-9C= (n.2986-9C=) c.2212-9C= (n.2212-9C=) c.2179-9C= (n.2179-9C=) n.3213-9C= c.2392-9C= (n.2392-9C=) n.3207-9C= | |
X | g.53241919C>A | CA10419877 | IQSEC2 | c.3049-10G>T (n.3049-10G>T) c.842-10G>T c.351-10G>T c.180-10G>T c.2890-10G>T (n.2890-10G>T) n.1187G>T c.2860-10G>T (n.2860-10G>T) c.2275-10G>T (n.2275-10G>T) c.2986-10G>T (n.2986-10G>T) c.2212-10G>T (n.2212-10G>T) c.2179-10G>T (n.2179-10G>T) n.3213-10G>T c.2392-10G>T (n.2392-10G>T) n.3207-10G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53241919C= | CA2429772835 | IQSEC2 | c.3049-10G= (n.3049-10G=) c.842-10G= c.351-10G= c.180-10G= c.2890-10G= (n.2890-10G=) n.1187G= c.2860-10G= (n.2860-10G=) c.2275-10G= (n.2275-10G=) c.2986-10G= (n.2986-10G=) c.2212-10G= (n.2212-10G=) c.2179-10G= (n.2179-10G=) n.3213-10G= c.2392-10G= (n.2392-10G=) n.3207-10G= | |
X | g.53241922G>A | CA10419878 | IQSEC2 | c.3049-13C>T (n.3049-13C>T) c.842-13C>T c.351-13C>T c.180-13C>T c.2890-13C>T (n.2890-13C>T) n.1184C>T c.2860-13C>T (n.2860-13C>T) c.2275-13C>T (n.2275-13C>T) c.2986-13C>T (n.2986-13C>T) c.2212-13C>T (n.2212-13C>T) c.2179-13C>T (n.2179-13C>T) n.3213-13C>T c.2392-13C>T (n.2392-13C>T) n.3207-13C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53241922G= | CA2429772836 | IQSEC2 | c.3049-13C= (n.3049-13C=) c.842-13C= c.351-13C= c.180-13C= c.2890-13C= (n.2890-13C=) n.1184C= c.2860-13C= (n.2860-13C=) c.2275-13C= (n.2275-13C=) c.2986-13C= (n.2986-13C=) c.2212-13C= (n.2212-13C=) c.2179-13C= (n.2179-13C=) n.3213-13C= c.2392-13C= (n.2392-13C=) n.3207-13C= |