| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53241815_53241816delinsCG | CA2429772809 | IQSEC2 | c.3142_3143delinsCG (p.Arg1048=) c.935_936delinsCG c.444_445delinsCG c.273_274delinsCG c.46_47delinsCG (p.Arg16=) c.2983_2984delinsCG (p.Arg995=) n.1290_1291delinsCG c.2953_2954delinsCG (p.Arg985=) c.2368_2369delinsCG (p.Arg790=) c.3079_3080delinsCG (p.Arg1027=) c.2305_2306delinsCG (p.Arg769=) c.2272_2273delinsCG (p.Arg758=) n.3306_3307delinsCG c.2485_2486delinsCG (p.Arg829=) n.3300_3301delinsCG | |
| X | g.53241816del | CA915951125 | IQSEC2 | c.3142del (p.Arg1048GlyfsTer23) c.935del c.444del c.273del c.46del (p.Arg16GlyfsTer23) c.2983del (p.Arg995GlyfsTer23) n.1290del c.2953del (p.Arg985GlyfsTer23) c.2368del (p.Arg790GlyfsTer23) c.3079del (p.Arg1027GlyfsTer23) c.2305del (p.Arg769GlyfsTer23) c.2272del (p.Arg758GlyfsTer23) n.3306del c.2485del (p.Arg829GlyfsTer23) n.3300del | ClinVar dbSNP |
| X | g.53241816G>A | CA501123 | IQSEC2 | c.3142C>T (p.Arg1048Trp) c.935C>T c.444C>T c.273C>T c.46C>T (p.Arg16Trp) c.2983C>T (p.Arg995Trp) n.1290C>T c.2953C>T (p.Arg985Trp) c.2368C>T (p.Arg790Trp) c.3079C>T (p.Arg1027Trp) c.2305C>T (p.Arg769Trp) c.2272C>T (p.Arg758Trp) n.3306C>T c.2485C>T (p.Arg829Trp) n.3300C>T | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.53241816G>C | CA413148941 | IQSEC2 | c.3142C>G (p.Arg1048Gly) c.935C>G c.444C>G c.273C>G c.46C>G (p.Arg16Gly) c.2983C>G (p.Arg995Gly) n.1290C>G c.2953C>G (p.Arg985Gly) c.2368C>G (p.Arg790Gly) c.3079C>G (p.Arg1027Gly) c.2305C>G (p.Arg769Gly) c.2272C>G (p.Arg758Gly) n.3306C>G c.2485C>G (p.Arg829Gly) n.3300C>G | |
| X | g.53241816G= | CA2429772810 | IQSEC2 | c.3142C= (p.Arg1048=) c.935C= c.444C= c.273C= c.46C= (p.Arg16=) c.2983C= (p.Arg995=) n.1290C= c.2953C= (p.Arg985=) c.2368C= (p.Arg790=) c.3079C= (p.Arg1027=) c.2305C= (p.Arg769=) c.2272C= (p.Arg758=) n.3306C= c.2485C= (p.Arg829=) n.3300C= | |
| X | g.53241816G>T | CA516424711 | IQSEC2 | c.3142C>A (p.Arg1048=) c.935C>A c.444C>A c.273C>A c.46C>A (p.Arg16=) c.2983C>A (p.Arg995=) n.1290C>A c.2953C>A (p.Arg985=) c.2368C>A (p.Arg790=) c.3079C>A (p.Arg1027=) c.2305C>A (p.Arg769=) c.2272C>A (p.Arg758=) n.3306C>A c.2485C>A (p.Arg829=) n.3300C>A | |
| X | g.53241817C>A | CA413148948 | IQSEC2 | c.3141G>T (p.Gln1047His) c.934G>T c.443G>T c.272G>T c.45G>T (p.Gln15His) c.2982G>T (p.Gln994His) n.1289G>T c.2952G>T (p.Gln984His) c.2367G>T (p.Gln789His) c.3078G>T (p.Gln1026His) c.2304G>T (p.Gln768His) c.2271G>T (p.Gln757His) n.3305G>T c.2484G>T (p.Gln828His) n.3299G>T | |
| X | g.53241817C>G | CA413148965 | IQSEC2 | c.3141G>C (p.Gln1047His) c.934G>C c.443G>C c.272G>C c.45G>C (p.Gln15His) c.2982G>C (p.Gln994His) n.1289G>C c.2952G>C (p.Gln984His) c.2367G>C (p.Gln789His) c.3078G>C (p.Gln1026His) c.2304G>C (p.Gln768His) c.2271G>C (p.Gln757His) n.3305G>C c.2484G>C (p.Gln828His) n.3299G>C | |
| X | g.53241817C>T | CA516424718 | IQSEC2 | c.3141G>A (p.Gln1047=) c.934G>A c.443G>A c.272G>A c.45G>A (p.Gln15=) c.2982G>A (p.Gln994=) n.1289G>A c.2952G>A (p.Gln984=) c.2367G>A (p.Gln789=) c.3078G>A (p.Gln1026=) c.2304G>A (p.Gln768=) c.2271G>A (p.Gln757=) n.3305G>A c.2484G>A (p.Gln828=) n.3299G>A | |
| X | g.53241818T>A | CA413148972 | IQSEC2 | c.3140A>T (p.Gln1047Leu) c.933A>T c.442A>T c.271A>T c.44A>T (p.Gln15Leu) c.2981A>T (p.Gln994Leu) n.1288A>T c.2951A>T (p.Gln984Leu) c.2366A>T (p.Gln789Leu) c.3077A>T (p.Gln1026Leu) c.2303A>T (p.Gln768Leu) c.2270A>T (p.Gln757Leu) n.3304A>T c.2483A>T (p.Gln828Leu) n.3298A>T | |
| X | g.53241818T>C | CA413148989 | IQSEC2 | c.3140A>G (p.Gln1047Arg) c.933A>G c.442A>G c.271A>G c.44A>G (p.Gln15Arg) c.2981A>G (p.Gln994Arg) n.1288A>G c.2951A>G (p.Gln984Arg) c.2366A>G (p.Gln789Arg) c.3077A>G (p.Gln1026Arg) c.2303A>G (p.Gln768Arg) c.2270A>G (p.Gln757Arg) n.3304A>G c.2483A>G (p.Gln828Arg) n.3298A>G | gnomAD v4 |
| X | g.53241818T>G | CA413148993 | IQSEC2 | c.3140A>C (p.Gln1047Pro) c.933A>C c.442A>C c.271A>C c.44A>C (p.Gln15Pro) c.2981A>C (p.Gln994Pro) n.1288A>C c.2951A>C (p.Gln984Pro) c.2366A>C (p.Gln789Pro) c.3077A>C (p.Gln1026Pro) c.2303A>C (p.Gln768Pro) c.2270A>C (p.Gln757Pro) n.3304A>C c.2483A>C (p.Gln828Pro) n.3298A>C | |
| X | g.53241819G>A | CA413149011 | IQSEC2 | c.3139C>T (p.Gln1047Ter) c.932C>T c.441C>T c.270C>T c.43C>T (p.Gln15Ter) c.2980C>T (p.Gln994Ter) n.1287C>T c.2950C>T (p.Gln984Ter) c.2365C>T (p.Gln789Ter) c.3076C>T (p.Gln1026Ter) c.2302C>T (p.Gln768Ter) c.2269C>T (p.Gln757Ter) n.3303C>T c.2482C>T (p.Gln828Ter) n.3297C>T | |
| X | g.53241819G>C | CA413149001 | IQSEC2 | c.3139C>G (p.Gln1047Glu) c.932C>G c.441C>G c.270C>G c.43C>G (p.Gln15Glu) c.2980C>G (p.Gln994Glu) n.1287C>G c.2950C>G (p.Gln984Glu) c.2365C>G (p.Gln789Glu) c.3076C>G (p.Gln1026Glu) c.2302C>G (p.Gln768Glu) c.2269C>G (p.Gln757Glu) n.3303C>G c.2482C>G (p.Gln828Glu) n.3297C>G | |
| X | g.53241819G>T | CA413149008 | IQSEC2 | c.3139C>A (p.Gln1047Lys) c.932C>A c.441C>A c.270C>A c.43C>A (p.Gln15Lys) c.2980C>A (p.Gln994Lys) n.1287C>A c.2950C>A (p.Gln984Lys) c.2365C>A (p.Gln789Lys) c.3076C>A (p.Gln1026Lys) c.2302C>A (p.Gln768Lys) c.2269C>A (p.Gln757Lys) n.3303C>A c.2482C>A (p.Gln828Lys) n.3297C>A | |
| X | g.53241820A>C | CA413149012 | IQSEC2 | c.3138T>G (p.His1046Gln) c.931T>G c.440T>G c.269T>G c.42T>G (p.His14Gln) c.2979T>G (p.His993Gln) n.1286T>G c.2949T>G (p.His983Gln) c.2364T>G (p.His788Gln) c.3075T>G (p.His1025Gln) c.2301T>G (p.His767Gln) c.2268T>G (p.His756Gln) n.3302T>G c.2481T>G (p.His827Gln) n.3296T>G | ClinVar dbSNP |
| X | g.53241820A>G | CA516424743 | IQSEC2 | c.3138T>C (p.His1046=) c.931T>C c.440T>C c.269T>C c.42T>C (p.His14=) c.2979T>C (p.His993=) n.1286T>C c.2949T>C (p.His983=) c.2364T>C (p.His788=) c.3075T>C (p.His1025=) c.2301T>C (p.His767=) c.2268T>C (p.His756=) n.3302T>C c.2481T>C (p.His827=) n.3296T>C | |
| X | g.53241820A>T | CA413149013 | IQSEC2 | c.3138T>A (p.His1046Gln) c.931T>A c.440T>A c.269T>A c.42T>A (p.His14Gln) c.2979T>A (p.His993Gln) n.1286T>A c.2949T>A (p.His983Gln) c.2364T>A (p.His788Gln) c.3075T>A (p.His1025Gln) c.2301T>A (p.His767Gln) c.2268T>A (p.His756Gln) n.3302T>A c.2481T>A (p.His827Gln) n.3296T>A | |
| X | g.53241821T>A | CA413149016 | IQSEC2 | c.3137A>T (p.His1046Leu) c.930A>T c.439A>T c.268A>T c.41A>T (p.His14Leu) c.2978A>T (p.His993Leu) n.1285A>T c.2948A>T (p.His983Leu) c.2363A>T (p.His788Leu) c.3074A>T (p.His1025Leu) c.2300A>T (p.His767Leu) c.2267A>T (p.His756Leu) n.3301A>T c.2480A>T (p.His827Leu) n.3295A>T | |
| X | g.53241821T>C | CA413149017 | IQSEC2 | c.3137A>G (p.His1046Arg) c.930A>G c.439A>G c.268A>G c.41A>G (p.His14Arg) c.2978A>G (p.His993Arg) n.1285A>G c.2948A>G (p.His983Arg) c.2363A>G (p.His788Arg) c.3074A>G (p.His1025Arg) c.2300A>G (p.His767Arg) c.2267A>G (p.His756Arg) n.3301A>G c.2480A>G (p.His827Arg) n.3295A>G | |
| X | g.53241821T>G | CA413149018 | IQSEC2 | c.3137A>C (p.His1046Pro) c.930A>C c.439A>C c.268A>C c.41A>C (p.His14Pro) c.2978A>C (p.His993Pro) n.1285A>C c.2948A>C (p.His983Pro) c.2363A>C (p.His788Pro) c.3074A>C (p.His1025Pro) c.2300A>C (p.His767Pro) c.2267A>C (p.His756Pro) n.3301A>C c.2480A>C (p.His827Pro) n.3295A>C | |
| X | g.53241822G>A | CA413149023 | IQSEC2 | c.3136C>T (p.His1046Tyr) c.929C>T c.438C>T c.267C>T c.40C>T (p.His14Tyr) c.2977C>T (p.His993Tyr) n.1284C>T c.2947C>T (p.His983Tyr) c.2362C>T (p.His788Tyr) c.3073C>T (p.His1025Tyr) c.2299C>T (p.His767Tyr) c.2266C>T (p.His756Tyr) n.3300C>T c.2479C>T (p.His827Tyr) n.3294C>T | ClinVar |
| X | g.53241822G>C | CA413149026 | IQSEC2 | c.3136C>G (p.His1046Asp) c.929C>G c.438C>G c.267C>G c.40C>G (p.His14Asp) c.2977C>G (p.His993Asp) n.1284C>G c.2947C>G (p.His983Asp) c.2362C>G (p.His788Asp) c.3073C>G (p.His1025Asp) c.2299C>G (p.His767Asp) c.2266C>G (p.His756Asp) n.3300C>G c.2479C>G (p.His827Asp) n.3294C>G | |
| X | g.53241822G>T | CA413149031 | IQSEC2 | c.3136C>A (p.His1046Asn) c.929C>A c.438C>A c.267C>A c.40C>A (p.His14Asn) c.2977C>A (p.His993Asn) n.1284C>A c.2947C>A (p.His983Asn) c.2362C>A (p.His788Asn) c.3073C>A (p.His1025Asn) c.2299C>A (p.His767Asn) c.2266C>A (p.His756Asn) n.3300C>A c.2479C>A (p.His827Asn) n.3294C>A | |
| X | g.53241823C>A | CA413149037 | IQSEC2 | c.3135G>T (p.Leu1045Phe) c.928G>T c.437G>T c.266G>T c.39G>T (p.Leu13Phe) c.2976G>T (p.Leu992Phe) n.1283G>T c.2946G>T (p.Leu982Phe) c.2361G>T (p.Leu787Phe) c.3072G>T (p.Leu1024Phe) c.2298G>T (p.Leu766Phe) c.2265G>T (p.Leu755Phe) n.3299G>T c.2478G>T (p.Leu826Phe) n.3293G>T | |
| X | g.53241823C>G | CA413149047 | IQSEC2 | c.3135G>C (p.Leu1045Phe) c.928G>C c.437G>C c.266G>C c.39G>C (p.Leu13Phe) c.2976G>C (p.Leu992Phe) n.1283G>C c.2946G>C (p.Leu982Phe) c.2361G>C (p.Leu787Phe) c.3072G>C (p.Leu1024Phe) c.2298G>C (p.Leu766Phe) c.2265G>C (p.Leu755Phe) n.3299G>C c.2478G>C (p.Leu826Phe) n.3293G>C | |
| X | g.53241823C>T | CA516424764 | IQSEC2 | c.3135G>A (p.Leu1045=) c.928G>A c.437G>A c.266G>A c.39G>A (p.Leu13=) c.2976G>A (p.Leu992=) n.1283G>A c.2946G>A (p.Leu982=) c.2361G>A (p.Leu787=) c.3072G>A (p.Leu1024=) c.2298G>A (p.Leu766=) c.2265G>A (p.Leu755=) n.3299G>A c.2478G>A (p.Leu826=) n.3293G>A | |
| 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 |