Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53243345A>C | CA413153407 | IQSEC2 | c.3035T>G (p.Val1012Gly) c.828T>G c.337T>G c.166T>G c.2876T>G (p.Val959Gly) n.627T>G c.2846T>G (p.Val949Gly) c.2261T>G (p.Val754Gly) c.2972T>G (p.Val991Gly) c.2198T>G (p.Val733Gly) c.2165T>G (p.Val722Gly) n.3199T>G c.2378T>G (p.Val793Gly) n.3193T>G | |
X | g.53243345A>G | CA413153420 | IQSEC2 | c.3035T>C (p.Val1012Ala) c.828T>C c.337T>C c.166T>C c.2876T>C (p.Val959Ala) n.627T>C c.2846T>C (p.Val949Ala) c.2261T>C (p.Val754Ala) c.2972T>C (p.Val991Ala) c.2198T>C (p.Val733Ala) c.2165T>C (p.Val722Ala) n.3199T>C c.2378T>C (p.Val793Ala) n.3193T>C | |
X | g.53243345A>T | CA413153423 | IQSEC2 | c.3035T>A (p.Val1012Asp) c.828T>A c.337T>A c.166T>A c.2876T>A (p.Val959Asp) n.627T>A c.2846T>A (p.Val949Asp) c.2261T>A (p.Val754Asp) c.2972T>A (p.Val991Asp) c.2198T>A (p.Val733Asp) c.2165T>A (p.Val722Asp) n.3199T>A c.2378T>A (p.Val793Asp) n.3193T>A | |
X | g.53243346C>A | CA413153427 | IQSEC2 | c.3034G>T (p.Val1012Phe) c.827G>T c.336G>T c.165G>T c.2875G>T (p.Val959Phe) n.626G>T c.2845G>T (p.Val949Phe) c.2260G>T (p.Val754Phe) c.2971G>T (p.Val991Phe) c.2197G>T (p.Val733Phe) c.2164G>T (p.Val722Phe) n.3198G>T c.2377G>T (p.Val793Phe) n.3192G>T | |
X | g.53243346C>G | CA413153429 | IQSEC2 | c.3034G>C (p.Val1012Leu) c.827G>C c.336G>C c.165G>C c.2875G>C (p.Val959Leu) n.626G>C c.2845G>C (p.Val949Leu) c.2260G>C (p.Val754Leu) c.2971G>C (p.Val991Leu) c.2197G>C (p.Val733Leu) c.2164G>C (p.Val722Leu) n.3198G>C c.2377G>C (p.Val793Leu) n.3192G>C | |
X | g.53243346C>T | CA413153433 | IQSEC2 | c.3034G>A (p.Val1012Ile) c.827G>A c.336G>A c.165G>A c.2875G>A (p.Val959Ile) n.626G>A c.2845G>A (p.Val949Ile) c.2260G>A (p.Val754Ile) c.2971G>A (p.Val991Ile) c.2197G>A (p.Val733Ile) c.2164G>A (p.Val722Ile) n.3198G>A c.2377G>A (p.Val793Ile) n.3192G>A | |
X | g.53243347A>C | CA413153436 | IQSEC2 | c.3033T>G (p.Ile1011Met) c.826T>G c.335T>G c.164T>G c.2874T>G (p.Ile958Met) n.625T>G c.2844T>G (p.Ile948Met) c.2259T>G (p.Ile753Met) c.2970T>G (p.Ile990Met) c.2196T>G (p.Ile732Met) c.2163T>G (p.Ile721Met) n.3197T>G c.2376T>G (p.Ile792Met) n.3191T>G | |
X | g.53243347A>G | CA516426172 | IQSEC2 | c.3033T>C (p.Ile1011=) c.826T>C c.335T>C c.164T>C c.2874T>C (p.Ile958=) n.625T>C c.2844T>C (p.Ile948=) c.2259T>C (p.Ile753=) c.2970T>C (p.Ile990=) c.2196T>C (p.Ile732=) c.2163T>C (p.Ile721=) n.3197T>C c.2376T>C (p.Ile792=) n.3191T>C | gnomAD v4 |
X | g.53243347A>T | CA516426174 | IQSEC2 | c.3033T>A (p.Ile1011=) c.826T>A c.335T>A c.164T>A c.2874T>A (p.Ile958=) n.625T>A c.2844T>A (p.Ile948=) c.2259T>A (p.Ile753=) c.2970T>A (p.Ile990=) c.2196T>A (p.Ile732=) c.2163T>A (p.Ile721=) n.3197T>A c.2376T>A (p.Ile792=) n.3191T>A | gnomAD v2 gnomAD v4 |
X | g.53243348A>C | CA413153442 | IQSEC2 | c.3032T>G (p.Ile1011Ser) c.825T>G c.334T>G c.163T>G c.2873T>G (p.Ile958Ser) n.624T>G c.2843T>G (p.Ile948Ser) c.2258T>G (p.Ile753Ser) c.2969T>G (p.Ile990Ser) c.2195T>G (p.Ile732Ser) c.2162T>G (p.Ile721Ser) n.3196T>G c.2375T>G (p.Ile792Ser) n.3190T>G | |
X | g.53243348A>G | CA413153443 | IQSEC2 | c.3032T>C (p.Ile1011Thr) c.825T>C c.334T>C c.163T>C c.2873T>C (p.Ile958Thr) n.624T>C c.2843T>C (p.Ile948Thr) c.2258T>C (p.Ile753Thr) c.2969T>C (p.Ile990Thr) c.2195T>C (p.Ile732Thr) c.2162T>C (p.Ile721Thr) n.3196T>C c.2375T>C (p.Ile792Thr) n.3190T>C | ClinVar |
X | g.53243348A>T | CA413153447 | IQSEC2 | c.3032T>A (p.Ile1011Asn) c.825T>A c.334T>A c.163T>A c.2873T>A (p.Ile958Asn) n.624T>A c.2843T>A (p.Ile948Asn) c.2258T>A (p.Ile753Asn) c.2969T>A (p.Ile990Asn) c.2195T>A (p.Ile732Asn) c.2162T>A (p.Ile721Asn) n.3196T>A c.2375T>A (p.Ile792Asn) n.3190T>A | |
X | g.53243349T>A | CA413153450 | IQSEC2 | c.3031A>T (p.Ile1011Phe) c.824A>T c.333A>T c.162A>T c.2872A>T (p.Ile958Phe) n.623A>T c.2842A>T (p.Ile948Phe) c.2257A>T (p.Ile753Phe) c.2968A>T (p.Ile990Phe) c.2194A>T (p.Ile732Phe) c.2161A>T (p.Ile721Phe) n.3195A>T c.2374A>T (p.Ile792Phe) n.3189A>T | |
X | g.53243349T>C | CA413153454 | IQSEC2 | c.3031A>G (p.Ile1011Val) c.824A>G c.333A>G c.162A>G c.2872A>G (p.Ile958Val) n.623A>G c.2842A>G (p.Ile948Val) c.2257A>G (p.Ile753Val) c.2968A>G (p.Ile990Val) c.2194A>G (p.Ile732Val) c.2161A>G (p.Ile721Val) n.3195A>G c.2374A>G (p.Ile792Val) n.3189A>G | |
X | g.53243349T>G | CA413153457 | IQSEC2 | c.3031A>C (p.Ile1011Leu) c.824A>C c.333A>C c.162A>C c.2872A>C (p.Ile958Leu) n.623A>C c.2842A>C (p.Ile948Leu) c.2257A>C (p.Ile753Leu) c.2968A>C (p.Ile990Leu) c.2194A>C (p.Ile732Leu) c.2161A>C (p.Ile721Leu) n.3195A>C c.2374A>C (p.Ile792Leu) n.3189A>C | |
X | g.53243350C>A | CA413153467 | IQSEC2 | c.3030G>T (p.Met1010Ile) c.823G>T c.332G>T c.161G>T c.2871G>T (p.Met957Ile) n.622G>T c.2841G>T (p.Met947Ile) c.2256G>T (p.Met752Ile) c.2967G>T (p.Met989Ile) c.2193G>T (p.Met731Ile) c.2160G>T (p.Met720Ile) n.3194G>T c.2373G>T (p.Met791Ile) n.3188G>T | |
X | g.53243350C>G | CA413153464 | IQSEC2 | c.3030G>C (p.Met1010Ile) c.823G>C c.332G>C c.161G>C c.2871G>C (p.Met957Ile) n.622G>C c.2841G>C (p.Met947Ile) c.2256G>C (p.Met752Ile) c.2967G>C (p.Met989Ile) c.2193G>C (p.Met731Ile) c.2160G>C (p.Met720Ile) n.3194G>C c.2373G>C (p.Met791Ile) n.3188G>C | |
X | g.53243350C>T | CA413153461 | IQSEC2 | c.3030G>A (p.Met1010Ile) c.823G>A c.332G>A c.161G>A c.2871G>A (p.Met957Ile) n.622G>A c.2841G>A (p.Met947Ile) c.2256G>A (p.Met752Ile) c.2967G>A (p.Met989Ile) c.2193G>A (p.Met731Ile) c.2160G>A (p.Met720Ile) n.3194G>A c.2373G>A (p.Met791Ile) n.3188G>A | |
X | g.53243351A>C | CA413153471 | IQSEC2 | c.3029T>G (p.Met1010Arg) c.822T>G c.331T>G c.160T>G c.2870T>G (p.Met957Arg) n.621T>G c.2840T>G (p.Met947Arg) c.2255T>G (p.Met752Arg) c.2966T>G (p.Met989Arg) c.2192T>G (p.Met731Arg) c.2159T>G (p.Met720Arg) n.3193T>G c.2372T>G (p.Met791Arg) n.3187T>G | |
X | g.53243351A>G | CA413153473 | IQSEC2 | c.3029T>C (p.Met1010Thr) c.822T>C c.331T>C c.160T>C c.2870T>C (p.Met957Thr) n.621T>C c.2840T>C (p.Met947Thr) c.2255T>C (p.Met752Thr) c.2966T>C (p.Met989Thr) c.2192T>C (p.Met731Thr) c.2159T>C (p.Met720Thr) n.3193T>C c.2372T>C (p.Met791Thr) n.3187T>C | |
X | g.53243351A>T | CA413153476 | IQSEC2 | c.3029T>A (p.Met1010Lys) c.822T>A c.331T>A c.160T>A c.2870T>A (p.Met957Lys) n.621T>A c.2840T>A (p.Met947Lys) c.2255T>A (p.Met752Lys) c.2966T>A (p.Met989Lys) c.2192T>A (p.Met731Lys) c.2159T>A (p.Met720Lys) n.3193T>A c.2372T>A (p.Met791Lys) n.3187T>A | |
X | g.53243352T>A | CA413153480 | IQSEC2 | c.3028A>T (p.Met1010Leu) c.821A>T c.330A>T c.159A>T c.2869A>T (p.Met957Leu) n.620A>T c.2839A>T (p.Met947Leu) c.2254A>T (p.Met752Leu) c.2965A>T (p.Met989Leu) c.2191A>T (p.Met731Leu) c.2158A>T (p.Met720Leu) n.3192A>T c.2371A>T (p.Met791Leu) n.3186A>T | |
X | g.53243352T>C | CA413153482 | IQSEC2 | c.3028A>G (p.Met1010Val) c.821A>G c.330A>G c.159A>G c.2869A>G (p.Met957Val) n.620A>G c.2839A>G (p.Met947Val) c.2254A>G (p.Met752Val) c.2965A>G (p.Met989Val) c.2191A>G (p.Met731Val) c.2158A>G (p.Met720Val) n.3192A>G c.2371A>G (p.Met791Val) n.3186A>G | ClinVar dbSNP COSMIC COSMIC COSMIC |
X | g.53243352T>G | CA413153485 | IQSEC2 | c.3028A>C (p.Met1010Leu) c.821A>C c.330A>C c.159A>C c.2869A>C (p.Met957Leu) n.620A>C c.2839A>C (p.Met947Leu) c.2254A>C (p.Met752Leu) c.2965A>C (p.Met989Leu) c.2191A>C (p.Met731Leu) c.2158A>C (p.Met720Leu) n.3192A>C c.2371A>C (p.Met791Leu) n.3186A>C | ClinVar dbSNP gnomAD v4 |
X | g.53243352T= | CA2429773350 | IQSEC2 | c.3028A= (p.Met1010=) c.821A= c.330A= c.159A= c.2869A= (p.Met957=) n.620A= c.2839A= (p.Met947=) c.2254A= (p.Met752=) c.2965A= (p.Met989=) c.2191A= (p.Met731=) c.2158A= (p.Met720=) n.3192A= c.2371A= (p.Met791=) n.3186A= | |
X | g.53243353G>A | CA516426188 | IQSEC2 | c.3027C>T (p.Arg1009=) c.820C>T c.329C>T c.158C>T c.2868C>T (p.Arg956=) n.619C>T c.2838C>T (p.Arg946=) c.2253C>T (p.Arg751=) c.2964C>T (p.Arg988=) c.2190C>T (p.Arg730=) c.2157C>T (p.Arg719=) n.3191C>T c.2370C>T (p.Arg790=) n.3185C>T | |
X | g.53243353G>C | CA516426190 | IQSEC2 | c.3027C>G (p.Arg1009=) c.820C>G c.329C>G c.158C>G c.2868C>G (p.Arg956=) n.619C>G c.2838C>G (p.Arg946=) c.2253C>G (p.Arg751=) c.2964C>G (p.Arg988=) c.2190C>G (p.Arg730=) c.2157C>G (p.Arg719=) n.3191C>G c.2370C>G (p.Arg790=) n.3185C>G | |
X | g.53243353G>T | CA516426192 | IQSEC2 | c.3027C>A (p.Arg1009=) c.820C>A c.329C>A c.158C>A c.2868C>A (p.Arg956=) n.619C>A c.2838C>A (p.Arg946=) c.2253C>A (p.Arg751=) c.2964C>A (p.Arg988=) c.2190C>A (p.Arg730=) c.2157C>A (p.Arg719=) n.3191C>A c.2370C>A (p.Arg790=) n.3185C>A | |
X | g.53243354C>A | CA413153489 | IQSEC2 | c.3026G>T (p.Arg1009Leu) c.819G>T c.328G>T c.157G>T c.2867G>T (p.Arg956Leu) n.618G>T c.2837G>T (p.Arg946Leu) c.2252G>T (p.Arg751Leu) c.2963G>T (p.Arg988Leu) c.2189G>T (p.Arg730Leu) c.2156G>T (p.Arg719Leu) n.3190G>T c.2369G>T (p.Arg790Leu) n.3184G>T | |
X | g.53243354C= | CA2429773351 | IQSEC2 | c.3026G= (p.Arg1009=) c.819G= c.328G= c.157G= c.2867G= (p.Arg956=) n.618G= c.2837G= (p.Arg946=) c.2252G= (p.Arg751=) c.2963G= (p.Arg988=) c.2189G= (p.Arg730=) c.2156G= (p.Arg719=) n.3190G= c.2369G= (p.Arg790=) n.3184G= | |
X | g.53243354C>G | CA413153492 | IQSEC2 | c.3026G>C (p.Arg1009Pro) c.819G>C c.328G>C c.157G>C c.2867G>C (p.Arg956Pro) n.618G>C c.2837G>C (p.Arg946Pro) c.2252G>C (p.Arg751Pro) c.2963G>C (p.Arg988Pro) c.2189G>C (p.Arg730Pro) c.2156G>C (p.Arg719Pro) n.3190G>C c.2369G>C (p.Arg790Pro) n.3184G>C | |
X | g.53243354C>T | CA413153496 | IQSEC2 | c.3026G>A (p.Arg1009His) c.819G>A c.328G>A c.157G>A c.2867G>A (p.Arg956His) n.618G>A c.2837G>A (p.Arg946His) c.2252G>A (p.Arg751His) c.2963G>A (p.Arg988His) c.2189G>A (p.Arg730His) c.2156G>A (p.Arg719His) n.3190G>A c.2369G>A (p.Arg790His) n.3184G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53243355G>A | CA413153498 | IQSEC2 | c.3025C>T (p.Arg1009Cys) c.818C>T c.327C>T c.156C>T c.2866C>T (p.Arg956Cys) n.617C>T c.2836C>T (p.Arg946Cys) c.2251C>T (p.Arg751Cys) c.2962C>T (p.Arg988Cys) c.2188C>T (p.Arg730Cys) c.2155C>T (p.Arg719Cys) n.3189C>T c.2368C>T (p.Arg790Cys) n.3183C>T | ClinVar dbSNP gnomAD v4 |
X | g.53243355G>C | CA413153499 | IQSEC2 | c.3025C>G (p.Arg1009Gly) c.818C>G c.327C>G c.156C>G c.2866C>G (p.Arg956Gly) n.617C>G c.2836C>G (p.Arg946Gly) c.2251C>G (p.Arg751Gly) c.2962C>G (p.Arg988Gly) c.2188C>G (p.Arg730Gly) c.2155C>G (p.Arg719Gly) n.3189C>G c.2368C>G (p.Arg790Gly) n.3183C>G | |
X | g.53243355G>T | CA413153502 | IQSEC2 | c.3025C>A (p.Arg1009Ser) c.818C>A c.327C>A c.156C>A c.2866C>A (p.Arg956Ser) n.617C>A c.2836C>A (p.Arg946Ser) c.2251C>A (p.Arg751Ser) c.2962C>A (p.Arg988Ser) c.2188C>A (p.Arg730Ser) c.2155C>A (p.Arg719Ser) n.3189C>A c.2368C>A (p.Arg790Ser) n.3183C>A | |
X | g.53243356C>A | CA413153506 | IQSEC2 | c.3024G>T (p.Glu1008Asp) c.817G>T c.326G>T c.155G>T c.2865G>T (p.Glu955Asp) n.616G>T c.2835G>T (p.Glu945Asp) c.2250G>T (p.Glu750Asp) c.2961G>T (p.Glu987Asp) c.2187G>T (p.Glu729Asp) c.2154G>T (p.Glu718Asp) n.3188G>T c.2367G>T (p.Glu789Asp) n.3182G>T | |
X | g.53243356C>G | CA413153509 | IQSEC2 | c.3024G>C (p.Glu1008Asp) c.817G>C c.326G>C c.155G>C c.2865G>C (p.Glu955Asp) n.616G>C c.2835G>C (p.Glu945Asp) c.2250G>C (p.Glu750Asp) c.2961G>C (p.Glu987Asp) c.2187G>C (p.Glu729Asp) c.2154G>C (p.Glu718Asp) n.3188G>C c.2367G>C (p.Glu789Asp) n.3182G>C | |
X | g.53243356C>T | CA516426200 | IQSEC2 | c.3024G>A (p.Glu1008=) c.817G>A c.326G>A c.155G>A c.2865G>A (p.Glu955=) n.616G>A c.2835G>A (p.Glu945=) c.2250G>A (p.Glu750=) c.2961G>A (p.Glu987=) c.2187G>A (p.Glu729=) c.2154G>A (p.Glu718=) n.3188G>A c.2367G>A (p.Glu789=) n.3182G>A | dbSNP |
X | g.53243357T>A | CA413153515 | IQSEC2 | c.3023A>T (p.Glu1008Val) c.816A>T c.325A>T c.154A>T c.2864A>T (p.Glu955Val) n.615A>T c.2834A>T (p.Glu945Val) c.2249A>T (p.Glu750Val) c.2960A>T (p.Glu987Val) c.2186A>T (p.Glu729Val) c.2153A>T (p.Glu718Val) n.3187A>T c.2366A>T (p.Glu789Val) n.3181A>T | |
X | g.53243357T>C | CA413153518 | IQSEC2 | c.3023A>G (p.Glu1008Gly) c.816A>G c.325A>G c.154A>G c.2864A>G (p.Glu955Gly) n.615A>G c.2834A>G (p.Glu945Gly) c.2249A>G (p.Glu750Gly) c.2960A>G (p.Glu987Gly) c.2186A>G (p.Glu729Gly) c.2153A>G (p.Glu718Gly) n.3187A>G c.2366A>G (p.Glu789Gly) n.3181A>G | |
X | g.53243357T>G | CA413153512 | IQSEC2 | c.3023A>C (p.Glu1008Ala) c.816A>C c.325A>C c.154A>C c.2864A>C (p.Glu955Ala) n.615A>C c.2834A>C (p.Glu945Ala) c.2249A>C (p.Glu750Ala) c.2960A>C (p.Glu987Ala) c.2186A>C (p.Glu729Ala) c.2153A>C (p.Glu718Ala) n.3187A>C c.2366A>C (p.Glu789Ala) n.3181A>C | |
X | g.53243358C>A | CA413153522 | IQSEC2 | c.3022G>T (p.Glu1008Ter) c.815G>T c.324G>T c.153G>T c.2863G>T (p.Glu955Ter) n.614G>T c.2833G>T (p.Glu945Ter) c.2248G>T (p.Glu750Ter) c.2959G>T (p.Glu987Ter) c.2185G>T (p.Glu729Ter) c.2152G>T (p.Glu718Ter) n.3186G>T c.2365G>T (p.Glu789Ter) n.3180G>T | |
X | g.53243358C>G | CA413153525 | IQSEC2 | c.3022G>C (p.Glu1008Gln) c.815G>C c.324G>C c.153G>C c.2863G>C (p.Glu955Gln) n.614G>C c.2833G>C (p.Glu945Gln) c.2248G>C (p.Glu750Gln) c.2959G>C (p.Glu987Gln) c.2185G>C (p.Glu729Gln) c.2152G>C (p.Glu718Gln) n.3186G>C c.2365G>C (p.Glu789Gln) n.3180G>C | |
X | g.53243358C>T | CA413153527 | IQSEC2 | c.3022G>A (p.Glu1008Lys) c.815G>A c.324G>A c.153G>A c.2863G>A (p.Glu955Lys) n.614G>A c.2833G>A (p.Glu945Lys) c.2248G>A (p.Glu750Lys) c.2959G>A (p.Glu987Lys) c.2185G>A (p.Glu729Lys) c.2152G>A (p.Glu718Lys) n.3186G>A c.2365G>A (p.Glu789Lys) n.3180G>A | |
X | g.53243359C>A | CA516426217 | IQSEC2 | c.3021G>T (p.Val1007=) c.814G>T c.323G>T c.152G>T c.2862G>T (p.Val954=) n.613G>T c.2832G>T (p.Val944=) c.2247G>T (p.Val749=) c.2958G>T (p.Val986=) c.2184G>T (p.Val728=) c.2151G>T (p.Val717=) n.3185G>T c.2364G>T (p.Val788=) n.3179G>T | |
X | g.53243359C>G | CA516426216 | IQSEC2 | c.3021G>C (p.Val1007=) c.814G>C c.323G>C c.152G>C c.2862G>C (p.Val954=) n.613G>C c.2832G>C (p.Val944=) c.2247G>C (p.Val749=) c.2958G>C (p.Val986=) c.2184G>C (p.Val728=) c.2151G>C (p.Val717=) n.3185G>C c.2364G>C (p.Val788=) n.3179G>C | |
X | g.53243359C>T | CA516426215 | IQSEC2 | c.3021G>A (p.Val1007=) c.814G>A c.323G>A c.152G>A c.2862G>A (p.Val954=) n.613G>A c.2832G>A (p.Val944=) c.2247G>A (p.Val749=) c.2958G>A (p.Val986=) c.2184G>A (p.Val728=) c.2151G>A (p.Val717=) n.3185G>A c.2364G>A (p.Val788=) n.3179G>A | |
X | g.53243360A>C | CA413153531 | IQSEC2 | c.3020T>G (p.Val1007Gly) c.813T>G c.322T>G c.151T>G c.2861T>G (p.Val954Gly) n.612T>G c.2831T>G (p.Val944Gly) c.2246T>G (p.Val749Gly) c.2957T>G (p.Val986Gly) c.2183T>G (p.Val728Gly) c.2150T>G (p.Val717Gly) n.3184T>G c.2363T>G (p.Val788Gly) n.3178T>G | |
X | g.53243360A>G | CA413153534 | IQSEC2 | c.3020T>C (p.Val1007Ala) c.813T>C c.322T>C c.151T>C c.2861T>C (p.Val954Ala) n.612T>C c.2831T>C (p.Val944Ala) c.2246T>C (p.Val749Ala) c.2957T>C (p.Val986Ala) c.2183T>C (p.Val728Ala) c.2150T>C (p.Val717Ala) n.3184T>C c.2363T>C (p.Val788Ala) n.3178T>C | |
X | g.53243360A>T | CA413153538 | IQSEC2 | c.3020T>A (p.Val1007Glu) c.813T>A c.322T>A c.151T>A c.2861T>A (p.Val954Glu) n.612T>A c.2831T>A (p.Val944Glu) c.2246T>A (p.Val749Glu) c.2957T>A (p.Val986Glu) c.2183T>A (p.Val728Glu) c.2150T>A (p.Val717Glu) n.3184T>A c.2363T>A (p.Val788Glu) n.3178T>A | |
X | g.53243361C>A | CA413153541 | IQSEC2 | c.3019G>T (p.Val1007Leu) c.812G>T c.321G>T c.150G>T c.2860G>T (p.Val954Leu) n.611G>T c.2830G>T (p.Val944Leu) c.2245G>T (p.Val749Leu) c.2956G>T (p.Val986Leu) c.2182G>T (p.Val728Leu) c.2149G>T (p.Val717Leu) n.3183G>T c.2362G>T (p.Val788Leu) n.3177G>T | |
X | g.53243361C>G | CA413153543 | IQSEC2 | c.3019G>C (p.Val1007Leu) c.812G>C c.321G>C c.150G>C c.2860G>C (p.Val954Leu) n.611G>C c.2830G>C (p.Val944Leu) c.2245G>C (p.Val749Leu) c.2956G>C (p.Val986Leu) c.2182G>C (p.Val728Leu) c.2149G>C (p.Val717Leu) n.3183G>C c.2362G>C (p.Val788Leu) n.3177G>C | |
X | g.53243361C>T | CA413153545 | IQSEC2 | c.3019G>A (p.Val1007Met) c.812G>A c.321G>A c.150G>A c.2860G>A (p.Val954Met) n.611G>A c.2830G>A (p.Val944Met) c.2245G>A (p.Val749Met) c.2956G>A (p.Val986Met) c.2182G>A (p.Val728Met) c.2149G>A (p.Val717Met) n.3183G>A c.2362G>A (p.Val788Met) n.3177G>A | |
X | g.53243362A>C | CA516426223 | IQSEC2 | c.3018T>G (p.Ala1006=) c.811T>G c.320T>G c.149T>G c.2859T>G (p.Ala953=) n.610T>G c.2829T>G (p.Ala943=) c.2244T>G (p.Ala748=) c.2955T>G (p.Ala985=) c.2181T>G (p.Ala727=) c.2148T>G (p.Ala716=) n.3182T>G c.2361T>G (p.Ala787=) n.3176T>G | |
X | g.53243362A>G | CA516426226 | IQSEC2 | c.3018T>C (p.Ala1006=) c.811T>C c.320T>C c.149T>C c.2859T>C (p.Ala953=) n.610T>C c.2829T>C (p.Ala943=) c.2244T>C (p.Ala748=) c.2955T>C (p.Ala985=) c.2181T>C (p.Ala727=) c.2148T>C (p.Ala716=) n.3182T>C c.2361T>C (p.Ala787=) n.3176T>C | |
X | g.53243362A>T | CA516426227 | IQSEC2 | c.3018T>A (p.Ala1006=) c.811T>A c.320T>A c.149T>A c.2859T>A (p.Ala953=) n.610T>A c.2829T>A (p.Ala943=) c.2244T>A (p.Ala748=) c.2955T>A (p.Ala985=) c.2181T>A (p.Ala727=) c.2148T>A (p.Ala716=) n.3182T>A c.2361T>A (p.Ala787=) n.3176T>A | |
X | g.53243363G>A | CA413153548 | IQSEC2 | c.3017C>T (p.Ala1006Val) c.810C>T c.319C>T c.148C>T c.2858C>T (p.Ala953Val) n.609C>T c.2828C>T (p.Ala943Val) c.2243C>T (p.Ala748Val) c.2954C>T (p.Ala985Val) c.2180C>T (p.Ala727Val) c.2147C>T (p.Ala716Val) n.3181C>T c.2360C>T (p.Ala787Val) n.3175C>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.53243363G>C | CA413153550 | IQSEC2 | c.3017C>G (p.Ala1006Gly) c.810C>G c.319C>G c.148C>G c.2858C>G (p.Ala953Gly) n.609C>G c.2828C>G (p.Ala943Gly) c.2243C>G (p.Ala748Gly) c.2954C>G (p.Ala985Gly) c.2180C>G (p.Ala727Gly) c.2147C>G (p.Ala716Gly) n.3181C>G c.2360C>G (p.Ala787Gly) n.3175C>G | |
X | g.53243363G= | CA2429773352 | IQSEC2 | c.3017C= (p.Ala1006=) c.810C= c.319C= c.148C= c.2858C= (p.Ala953=) n.609C= c.2828C= (p.Ala943=) c.2243C= (p.Ala748=) c.2954C= (p.Ala985=) c.2180C= (p.Ala727=) c.2147C= (p.Ala716=) n.3181C= c.2360C= (p.Ala787=) n.3175C= | |
X | g.53243363G>T | CA413153551 | IQSEC2 | c.3017C>A (p.Ala1006Asp) c.810C>A c.319C>A c.148C>A c.2858C>A (p.Ala953Asp) n.609C>A c.2828C>A (p.Ala943Asp) c.2243C>A (p.Ala748Asp) c.2954C>A (p.Ala985Asp) c.2180C>A (p.Ala727Asp) c.2147C>A (p.Ala716Asp) n.3181C>A c.2360C>A (p.Ala787Asp) n.3175C>A | |
X | g.53243364C>A | CA413153558 | IQSEC2 | c.3016G>T (p.Ala1006Ser) c.809G>T c.318G>T c.147G>T c.2857G>T (p.Ala953Ser) n.608G>T c.2827G>T (p.Ala943Ser) c.2242G>T (p.Ala748Ser) c.2953G>T (p.Ala985Ser) c.2179G>T (p.Ala727Ser) c.2146G>T (p.Ala716Ser) n.3180G>T c.2359G>T (p.Ala787Ser) n.3174G>T | |
X | g.53243364C= | CA2429773353 | IQSEC2 | c.3016G= (p.Ala1006=) c.809G= c.318G= c.147G= c.2857G= (p.Ala953=) n.608G= c.2827G= (p.Ala943=) c.2242G= (p.Ala748=) c.2953G= (p.Ala985=) c.2179G= (p.Ala727=) c.2146G= (p.Ala716=) n.3180G= c.2359G= (p.Ala787=) n.3174G= | |
X | g.53243364C>G | CA413153561 | IQSEC2 | c.3016G>C (p.Ala1006Pro) c.809G>C c.318G>C c.147G>C c.2857G>C (p.Ala953Pro) n.608G>C c.2827G>C (p.Ala943Pro) c.2242G>C (p.Ala748Pro) c.2953G>C (p.Ala985Pro) c.2179G>C (p.Ala727Pro) c.2146G>C (p.Ala716Pro) n.3180G>C c.2359G>C (p.Ala787Pro) n.3174G>C | |
X | g.53243364C>T | CA413153555 | IQSEC2 | c.3016G>A (p.Ala1006Thr) c.809G>A c.318G>A c.147G>A c.2857G>A (p.Ala953Thr) n.608G>A c.2827G>A (p.Ala943Thr) c.2242G>A (p.Ala748Thr) c.2953G>A (p.Ala985Thr) c.2179G>A (p.Ala727Thr) c.2146G>A (p.Ala716Thr) n.3180G>A c.2359G>A (p.Ala787Thr) n.3174G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53243365C>A | CA413153564 | IQSEC2 | c.3015G>T (p.Gln1005His) c.808G>T c.317G>T c.146G>T c.2856G>T (p.Gln952His) n.607G>T c.2826G>T (p.Gln942His) c.2241G>T (p.Gln747His) c.2952G>T (p.Gln984His) c.2178G>T (p.Gln726His) c.2145G>T (p.Gln715His) n.3179G>T c.2358G>T (p.Gln786His) n.3173G>T | dbSNP |
X | g.53243365C= | CA2429773354 | IQSEC2 | c.3015G= (p.Gln1005=) c.808G= c.317G= c.146G= c.2856G= (p.Gln952=) n.607G= c.2826G= (p.Gln942=) c.2241G= (p.Gln747=) c.2952G= (p.Gln984=) c.2178G= (p.Gln726=) c.2145G= (p.Gln715=) n.3179G= c.2358G= (p.Gln786=) n.3173G= | |
X | g.53243365C>G | CA413153568 | IQSEC2 | c.3015G>C (p.Gln1005His) c.808G>C c.317G>C c.146G>C c.2856G>C (p.Gln952His) n.607G>C c.2826G>C (p.Gln942His) c.2241G>C (p.Gln747His) c.2952G>C (p.Gln984His) c.2178G>C (p.Gln726His) c.2145G>C (p.Gln715His) n.3179G>C c.2358G>C (p.Gln786His) n.3173G>C | |
X | g.53243365C>T | CA516426234 | IQSEC2 | c.3015G>A (p.Gln1005=) c.808G>A c.317G>A c.146G>A c.2856G>A (p.Gln952=) n.607G>A c.2826G>A (p.Gln942=) c.2241G>A (p.Gln747=) c.2952G>A (p.Gln984=) c.2178G>A (p.Gln726=) c.2145G>A (p.Gln715=) n.3179G>A c.2358G>A (p.Gln786=) n.3173G>A | dbSNP |
X | g.53243366T>A | CA413153571 | IQSEC2 | c.3014A>T (p.Gln1005Leu) c.807A>T c.316A>T c.145A>T c.2855A>T (p.Gln952Leu) n.606A>T c.2825A>T (p.Gln942Leu) c.2240A>T (p.Gln747Leu) c.2951A>T (p.Gln984Leu) c.2177A>T (p.Gln726Leu) c.2144A>T (p.Gln715Leu) n.3178A>T c.2357A>T (p.Gln786Leu) n.3172A>T | |
X | g.53243366T>C | CA413153578 | IQSEC2 | c.3014A>G (p.Gln1005Arg) c.807A>G c.316A>G c.145A>G c.2855A>G (p.Gln952Arg) n.606A>G c.2825A>G (p.Gln942Arg) c.2240A>G (p.Gln747Arg) c.2951A>G (p.Gln984Arg) c.2177A>G (p.Gln726Arg) c.2144A>G (p.Gln715Arg) n.3178A>G c.2357A>G (p.Gln786Arg) n.3172A>G | |
X | g.53243366T>G | CA413153579 | IQSEC2 | c.3014A>C (p.Gln1005Pro) c.807A>C c.316A>C c.145A>C c.2855A>C (p.Gln952Pro) n.606A>C c.2825A>C (p.Gln942Pro) c.2240A>C (p.Gln747Pro) c.2951A>C (p.Gln984Pro) c.2177A>C (p.Gln726Pro) c.2144A>C (p.Gln715Pro) n.3178A>C c.2357A>C (p.Gln786Pro) n.3172A>C | |
X | g.53243367G>A | CA16043640 | IQSEC2 | c.3013C>T (p.Gln1005Ter) c.806C>T c.315C>T c.144C>T c.2854C>T (p.Gln952Ter) n.605C>T c.2824C>T (p.Gln942Ter) c.2239C>T (p.Gln747Ter) c.2950C>T (p.Gln984Ter) c.2176C>T (p.Gln726Ter) c.2143C>T (p.Gln715Ter) n.3177C>T c.2356C>T (p.Gln786Ter) n.3171C>T | ClinVar dbSNP |
X | g.53243367G>C | CA413153580 | IQSEC2 | c.3013C>G (p.Gln1005Glu) c.806C>G c.315C>G c.144C>G c.2854C>G (p.Gln952Glu) n.605C>G c.2824C>G (p.Gln942Glu) c.2239C>G (p.Gln747Glu) c.2950C>G (p.Gln984Glu) c.2176C>G (p.Gln726Glu) c.2143C>G (p.Gln715Glu) n.3177C>G c.2356C>G (p.Gln786Glu) n.3171C>G | |
X | g.53243367G= | CA2429773355 | IQSEC2 | c.3013C= (p.Gln1005=) c.806C= c.315C= c.144C= c.2854C= (p.Gln952=) n.605C= c.2824C= (p.Gln942=) c.2239C= (p.Gln747=) c.2950C= (p.Gln984=) c.2176C= (p.Gln726=) c.2143C= (p.Gln715=) n.3177C= c.2356C= (p.Gln786=) n.3171C= | |
X | g.53243367G>T | CA413153582 | IQSEC2 | c.3013C>A (p.Gln1005Lys) c.806C>A c.315C>A c.144C>A c.2854C>A (p.Gln952Lys) n.605C>A c.2824C>A (p.Gln942Lys) c.2239C>A (p.Gln747Lys) c.2950C>A (p.Gln984Lys) c.2176C>A (p.Gln726Lys) c.2143C>A (p.Gln715Lys) n.3177C>A c.2356C>A (p.Gln786Lys) n.3171C>A | |
X | g.53243368C>A | CA516426239 | IQSEC2 | c.3012G>T (p.Val1004=) c.805G>T c.314G>T c.143G>T c.2853G>T (p.Val951=) n.604G>T c.2823G>T (p.Val941=) c.2238G>T (p.Val746=) c.2949G>T (p.Val983=) c.2175G>T (p.Val725=) c.2142G>T (p.Val714=) n.3176G>T c.2355G>T (p.Val785=) n.3170G>T | |
X | g.53243368C= | CA2429773356 | IQSEC2 | c.3012G= (p.Val1004=) c.805G= c.314G= c.143G= c.2853G= (p.Val951=) n.604G= c.2823G= (p.Val941=) c.2238G= (p.Val746=) c.2949G= (p.Val983=) c.2175G= (p.Val725=) c.2142G= (p.Val714=) n.3176G= c.2355G= (p.Val785=) n.3170G= | |
X | g.53243368C>G | CA516426241 | IQSEC2 | c.3012G>C (p.Val1004=) c.805G>C c.314G>C c.143G>C c.2853G>C (p.Val951=) n.604G>C c.2823G>C (p.Val941=) c.2238G>C (p.Val746=) c.2949G>C (p.Val983=) c.2175G>C (p.Val725=) c.2142G>C (p.Val714=) n.3176G>C c.2355G>C (p.Val785=) n.3170G>C | |
X | g.53243368C>T | CA516426242 | IQSEC2 | c.3012G>A (p.Val1004=) c.805G>A c.314G>A c.143G>A c.2853G>A (p.Val951=) n.604G>A c.2823G>A (p.Val941=) c.2238G>A (p.Val746=) c.2949G>A (p.Val983=) c.2175G>A (p.Val725=) c.2142G>A (p.Val714=) n.3176G>A c.2355G>A (p.Val785=) n.3170G>A | ClinVar dbSNP |
X | g.53243369A>C | CA413153585 | IQSEC2 | c.3011T>G (p.Val1004Gly) c.804T>G c.313T>G c.142T>G c.2852T>G (p.Val951Gly) n.603T>G c.2822T>G (p.Val941Gly) c.2237T>G (p.Val746Gly) c.2948T>G (p.Val983Gly) c.2174T>G (p.Val725Gly) c.2141T>G (p.Val714Gly) n.3175T>G c.2354T>G (p.Val785Gly) n.3169T>G | |
X | g.53243369A>G | CA413153587 | IQSEC2 | c.3011T>C (p.Val1004Ala) c.804T>C c.313T>C c.142T>C c.2852T>C (p.Val951Ala) n.603T>C c.2822T>C (p.Val941Ala) c.2237T>C (p.Val746Ala) c.2948T>C (p.Val983Ala) c.2174T>C (p.Val725Ala) c.2141T>C (p.Val714Ala) n.3175T>C c.2354T>C (p.Val785Ala) n.3169T>C | |
X | g.53243369A>T | CA413153589 | IQSEC2 | c.3011T>A (p.Val1004Glu) c.804T>A c.313T>A c.142T>A c.2852T>A (p.Val951Glu) n.603T>A c.2822T>A (p.Val941Glu) c.2237T>A (p.Val746Glu) c.2948T>A (p.Val983Glu) c.2174T>A (p.Val725Glu) c.2141T>A (p.Val714Glu) n.3175T>A c.2354T>A (p.Val785Glu) n.3169T>A | |
X | g.53243371_53243377del | CA2695234294 | IQSEC2 | c.3005_3011del (p.Ser1002CysfsTer7) c.798_804del c.307_313del c.136_142del c.2846_2852del (p.Ser949CysfsTer7) n.597_603del c.2816_2822del (p.Ser939CysfsTer7) c.2231_2237del (p.Ser744CysfsTer7) c.2942_2948del (p.Ser981CysfsTer7) c.2168_2174del (p.Ser723CysfsTer7) c.2135_2141del (p.Ser712CysfsTer7) n.3169_3175del c.2348_2354del (p.Ser783CysfsTer7) n.3163_3169del | |
X | g.53243370C>A | CA413153593 | IQSEC2 | c.3010G>T (p.Val1004Leu) c.803G>T c.312G>T c.141G>T c.2851G>T (p.Val951Leu) n.602G>T c.2821G>T (p.Val941Leu) c.2236G>T (p.Val746Leu) c.2947G>T (p.Val983Leu) c.2173G>T (p.Val725Leu) c.2140G>T (p.Val714Leu) n.3174G>T c.2353G>T (p.Val785Leu) n.3168G>T | |
X | g.53243370C>G | CA413153596 | IQSEC2 | c.3010G>C (p.Val1004Leu) c.803G>C c.312G>C c.141G>C c.2851G>C (p.Val951Leu) n.602G>C c.2821G>C (p.Val941Leu) c.2236G>C (p.Val746Leu) c.2947G>C (p.Val983Leu) c.2173G>C (p.Val725Leu) c.2140G>C (p.Val714Leu) n.3174G>C c.2353G>C (p.Val785Leu) n.3168G>C | |
X | g.53243370C>T | CA413153599 | IQSEC2 | c.3010G>A (p.Val1004Met) c.803G>A c.312G>A c.141G>A c.2851G>A (p.Val951Met) n.602G>A c.2821G>A (p.Val941Met) c.2236G>A (p.Val746Met) c.2947G>A (p.Val983Met) c.2173G>A (p.Val725Met) c.2140G>A (p.Val714Met) n.3174G>A c.2353G>A (p.Val785Met) n.3168G>A | |
X | g.53243371C>A | CA413153606 | IQSEC2 | c.3009G>T (p.Gln1003His) c.802G>T c.311G>T c.140G>T c.2850G>T (p.Gln950His) n.601G>T c.2820G>T (p.Gln940His) c.2235G>T (p.Gln745His) c.2946G>T (p.Gln982His) c.2172G>T (p.Gln724His) c.2139G>T (p.Gln713His) n.3173G>T c.2352G>T (p.Gln784His) n.3167G>T | |
X | g.53243371C>G | CA413153604 | IQSEC2 | c.3009G>C (p.Gln1003His) c.802G>C c.311G>C c.140G>C c.2850G>C (p.Gln950His) n.601G>C c.2820G>C (p.Gln940His) c.2235G>C (p.Gln745His) c.2946G>C (p.Gln982His) c.2172G>C (p.Gln724His) c.2139G>C (p.Gln713His) n.3173G>C c.2352G>C (p.Gln784His) n.3167G>C | |
X | g.53243371C>T | CA516426252 | IQSEC2 | c.3009G>A (p.Gln1003=) c.802G>A c.311G>A c.140G>A c.2850G>A (p.Gln950=) n.601G>A c.2820G>A (p.Gln940=) c.2235G>A (p.Gln745=) c.2946G>A (p.Gln982=) c.2172G>A (p.Gln724=) c.2139G>A (p.Gln713=) n.3173G>A c.2352G>A (p.Gln784=) n.3167G>A | |
X | g.53243372T>A | CA413153611 | IQSEC2 | c.3008A>T (p.Gln1003Leu) c.801A>T c.310A>T c.139A>T c.2849A>T (p.Gln950Leu) n.600A>T c.2819A>T (p.Gln940Leu) c.2234A>T (p.Gln745Leu) c.2945A>T (p.Gln982Leu) c.2171A>T (p.Gln724Leu) c.2138A>T (p.Gln713Leu) n.3172A>T c.2351A>T (p.Gln784Leu) n.3166A>T | |
X | g.53243372T>C | CA413153614 | IQSEC2 | c.3008A>G (p.Gln1003Arg) c.801A>G c.310A>G c.139A>G c.2849A>G (p.Gln950Arg) n.600A>G c.2819A>G (p.Gln940Arg) c.2234A>G (p.Gln745Arg) c.2945A>G (p.Gln982Arg) c.2171A>G (p.Gln724Arg) c.2138A>G (p.Gln713Arg) n.3172A>G c.2351A>G (p.Gln784Arg) n.3166A>G | |
X | g.53243372T>G | CA413153616 | IQSEC2 | c.3008A>C (p.Gln1003Pro) c.801A>C c.310A>C c.139A>C c.2849A>C (p.Gln950Pro) n.600A>C c.2819A>C (p.Gln940Pro) c.2234A>C (p.Gln745Pro) c.2945A>C (p.Gln982Pro) c.2171A>C (p.Gln724Pro) c.2138A>C (p.Gln713Pro) n.3172A>C c.2351A>C (p.Gln784Pro) n.3166A>C | |
X | g.53243373G>A | CA413153620 | IQSEC2 | c.3007C>T (p.Gln1003Ter) c.800C>T c.309C>T c.138C>T c.2848C>T (p.Gln950Ter) n.599C>T c.2818C>T (p.Gln940Ter) c.2233C>T (p.Gln745Ter) c.2944C>T (p.Gln982Ter) c.2170C>T (p.Gln724Ter) c.2137C>T (p.Gln713Ter) n.3171C>T c.2350C>T (p.Gln784Ter) n.3165C>T | ClinVar |
X | g.53243373G>C | CA413153622 | IQSEC2 | c.3007C>G (p.Gln1003Glu) c.800C>G c.309C>G c.138C>G c.2848C>G (p.Gln950Glu) n.599C>G c.2818C>G (p.Gln940Glu) c.2233C>G (p.Gln745Glu) c.2944C>G (p.Gln982Glu) c.2170C>G (p.Gln724Glu) c.2137C>G (p.Gln713Glu) n.3171C>G c.2350C>G (p.Gln784Glu) n.3165C>G | |
X | g.53243373G>T | CA413153628 | IQSEC2 | c.3007C>A (p.Gln1003Lys) c.800C>A c.309C>A c.138C>A c.2848C>A (p.Gln950Lys) n.599C>A c.2818C>A (p.Gln940Lys) c.2233C>A (p.Gln745Lys) c.2944C>A (p.Gln982Lys) c.2170C>A (p.Gln724Lys) c.2137C>A (p.Gln713Lys) n.3171C>A c.2350C>A (p.Gln784Lys) n.3165C>A | |
X | g.53243374G>A | CA10419884 | IQSEC2 | c.3006C>T (p.Ser1002=) c.799C>T c.308C>T c.137C>T c.2847C>T (p.Ser949=) n.598C>T c.2817C>T (p.Ser939=) c.2232C>T (p.Ser744=) c.2943C>T (p.Ser981=) c.2169C>T (p.Ser723=) c.2136C>T (p.Ser712=) n.3170C>T c.2349C>T (p.Ser783=) n.3164C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53243374G>C | CA516426257 | IQSEC2 | c.3006C>G (p.Ser1002=) c.799C>G c.308C>G c.137C>G c.2847C>G (p.Ser949=) n.598C>G c.2817C>G (p.Ser939=) c.2232C>G (p.Ser744=) c.2943C>G (p.Ser981=) c.2169C>G (p.Ser723=) c.2136C>G (p.Ser712=) n.3170C>G c.2349C>G (p.Ser783=) n.3164C>G | |
X | g.53243374G= | CA2429773357 | IQSEC2 | c.3006C= (p.Ser1002=) c.799C= c.308C= c.137C= c.2847C= (p.Ser949=) n.598C= c.2817C= (p.Ser939=) c.2232C= (p.Ser744=) c.2943C= (p.Ser981=) c.2169C= (p.Ser723=) c.2136C= (p.Ser712=) n.3170C= c.2349C= (p.Ser783=) n.3164C= | |
X | g.53243374G>T | CA516426258 | IQSEC2 | c.3006C>A (p.Ser1002=) c.799C>A c.308C>A c.137C>A c.2847C>A (p.Ser949=) n.598C>A c.2817C>A (p.Ser939=) c.2232C>A (p.Ser744=) c.2943C>A (p.Ser981=) c.2169C>A (p.Ser723=) c.2136C>A (p.Ser712=) n.3170C>A c.2349C>A (p.Ser783=) n.3164C>A | |
X | g.53243375G>A | CA413153640 | IQSEC2 | c.3005C>T (p.Ser1002Phe) c.798C>T c.307C>T c.136C>T c.2846C>T (p.Ser949Phe) n.597C>T c.2816C>T (p.Ser939Phe) c.2231C>T (p.Ser744Phe) c.2942C>T (p.Ser981Phe) c.2168C>T (p.Ser723Phe) c.2135C>T (p.Ser712Phe) n.3169C>T c.2348C>T (p.Ser783Phe) n.3163C>T | ClinVar dbSNP |
X | g.53243375G>C | CA413153633 | IQSEC2 | c.3005C>G (p.Ser1002Cys) c.798C>G c.307C>G c.136C>G c.2846C>G (p.Ser949Cys) n.597C>G c.2816C>G (p.Ser939Cys) c.2231C>G (p.Ser744Cys) c.2942C>G (p.Ser981Cys) c.2168C>G (p.Ser723Cys) c.2135C>G (p.Ser712Cys) n.3169C>G c.2348C>G (p.Ser783Cys) n.3163C>G | |
X | g.53243375G= | CA2429773358 | IQSEC2 | c.3005C= (p.Ser1002=) c.798C= c.307C= c.136C= c.2846C= (p.Ser949=) n.597C= c.2816C= (p.Ser939=) c.2231C= (p.Ser744=) c.2942C= (p.Ser981=) c.2168C= (p.Ser723=) c.2135C= (p.Ser712=) n.3169C= c.2348C= (p.Ser783=) n.3163C= | |
X | g.53243375G>T | CA413153638 | IQSEC2 | c.3005C>A (p.Ser1002Tyr) c.798C>A c.307C>A c.136C>A c.2846C>A (p.Ser949Tyr) n.597C>A c.2816C>A (p.Ser939Tyr) c.2231C>A (p.Ser744Tyr) c.2942C>A (p.Ser981Tyr) c.2168C>A (p.Ser723Tyr) c.2135C>A (p.Ser712Tyr) n.3169C>A c.2348C>A (p.Ser783Tyr) n.3163C>A | |
X | g.53243376A>C | CA413153644 | IQSEC2 | c.3004T>G (p.Ser1002Ala) c.797T>G c.306T>G c.135T>G c.2845T>G (p.Ser949Ala) n.596T>G c.2815T>G (p.Ser939Ala) c.2230T>G (p.Ser744Ala) c.2941T>G (p.Ser981Ala) c.2167T>G (p.Ser723Ala) c.2134T>G (p.Ser712Ala) n.3168T>G c.2347T>G (p.Ser783Ala) n.3162T>G | |
X | g.53243376A>G | CA413153648 | IQSEC2 | c.3004T>C (p.Ser1002Pro) c.797T>C c.306T>C c.135T>C c.2845T>C (p.Ser949Pro) n.596T>C c.2815T>C (p.Ser939Pro) c.2230T>C (p.Ser744Pro) c.2941T>C (p.Ser981Pro) c.2167T>C (p.Ser723Pro) c.2134T>C (p.Ser712Pro) n.3168T>C c.2347T>C (p.Ser783Pro) n.3162T>C | |
X | g.53243376A>T | CA413153655 | IQSEC2 | c.3004T>A (p.Ser1002Thr) c.797T>A c.306T>A c.135T>A c.2845T>A (p.Ser949Thr) n.596T>A c.2815T>A (p.Ser939Thr) c.2230T>A (p.Ser744Thr) c.2941T>A (p.Ser981Thr) c.2167T>A (p.Ser723Thr) c.2134T>A (p.Ser712Thr) n.3168T>A c.2347T>A (p.Ser783Thr) n.3162T>A | |
X | g.53243377C>A | CA516426272 | IQSEC2 | c.3003G>T (p.Val1001=) c.796G>T c.305G>T c.134G>T c.2844G>T (p.Val948=) n.595G>T c.2814G>T (p.Val938=) c.2229G>T (p.Val743=) c.2940G>T (p.Val980=) c.2166G>T (p.Val722=) c.2133G>T (p.Val711=) n.3167G>T c.2346G>T (p.Val782=) n.3161G>T | gnomAD v4 |
X | g.53243377C= | CA2429773359 | IQSEC2 | c.3003G= (p.Val1001=) c.796G= c.305G= c.134G= c.2844G= (p.Val948=) n.595G= c.2814G= (p.Val938=) c.2229G= (p.Val743=) c.2940G= (p.Val980=) c.2166G= (p.Val722=) c.2133G= (p.Val711=) n.3167G= c.2346G= (p.Val782=) n.3161G= | |
X | g.53243377C>G | CA516426273 | IQSEC2 | c.3003G>C (p.Val1001=) c.796G>C c.305G>C c.134G>C c.2844G>C (p.Val948=) n.595G>C c.2814G>C (p.Val938=) c.2229G>C (p.Val743=) c.2940G>C (p.Val980=) c.2166G>C (p.Val722=) c.2133G>C (p.Val711=) n.3167G>C c.2346G>C (p.Val782=) n.3161G>C | |
X | g.53243377C>T | CA516426274 | IQSEC2 | c.3003G>A (p.Val1001=) c.796G>A c.305G>A c.134G>A c.2844G>A (p.Val948=) n.595G>A c.2814G>A (p.Val938=) c.2229G>A (p.Val743=) c.2940G>A (p.Val980=) c.2166G>A (p.Val722=) c.2133G>A (p.Val711=) n.3167G>A c.2346G>A (p.Val782=) n.3161G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.53243378A>C | CA413153658 | IQSEC2 | c.3002T>G (p.Val1001Gly) c.795T>G c.304T>G c.133T>G c.2843T>G (p.Val948Gly) n.594T>G c.2813T>G (p.Val938Gly) c.2228T>G (p.Val743Gly) c.2939T>G (p.Val980Gly) c.2165T>G (p.Val722Gly) c.2132T>G (p.Val711Gly) n.3166T>G c.2345T>G (p.Val782Gly) n.3160T>G | |
X | g.53243378A>G | CA413153660 | IQSEC2 | c.3002T>C (p.Val1001Ala) c.795T>C c.304T>C c.133T>C c.2843T>C (p.Val948Ala) n.594T>C c.2813T>C (p.Val938Ala) c.2228T>C (p.Val743Ala) c.2939T>C (p.Val980Ala) c.2165T>C (p.Val722Ala) c.2132T>C (p.Val711Ala) n.3166T>C c.2345T>C (p.Val782Ala) n.3160T>C | |
X | g.53243378A>T | CA413153663 | IQSEC2 | c.3002T>A (p.Val1001Glu) c.795T>A c.304T>A c.133T>A c.2843T>A (p.Val948Glu) n.594T>A c.2813T>A (p.Val938Glu) c.2228T>A (p.Val743Glu) c.2939T>A (p.Val980Glu) c.2165T>A (p.Val722Glu) c.2132T>A (p.Val711Glu) n.3166T>A c.2345T>A (p.Val782Glu) n.3160T>A | |
X | g.53243379C>A | CA413153668 | IQSEC2 | c.3001G>T (p.Val1001Leu) c.794G>T c.303G>T c.132G>T c.2842G>T (p.Val948Leu) n.593G>T c.2812G>T (p.Val938Leu) c.2227G>T (p.Val743Leu) c.2938G>T (p.Val980Leu) c.2164G>T (p.Val722Leu) c.2131G>T (p.Val711Leu) n.3165G>T c.2344G>T (p.Val782Leu) n.3159G>T | |
X | g.53243379C>G | CA413153672 | IQSEC2 | c.3001G>C (p.Val1001Leu) c.794G>C c.303G>C c.132G>C c.2842G>C (p.Val948Leu) n.593G>C c.2812G>C (p.Val938Leu) c.2227G>C (p.Val743Leu) c.2938G>C (p.Val980Leu) c.2164G>C (p.Val722Leu) c.2131G>C (p.Val711Leu) n.3165G>C c.2344G>C (p.Val782Leu) n.3159G>C | |
X | g.53243379C>T | CA413153671 | IQSEC2 | c.3001G>A (p.Val1001Met) c.794G>A c.303G>A c.132G>A c.2842G>A (p.Val948Met) n.593G>A c.2812G>A (p.Val938Met) c.2227G>A (p.Val743Met) c.2938G>A (p.Val980Met) c.2164G>A (p.Val722Met) c.2131G>A (p.Val711Met) n.3165G>A c.2344G>A (p.Val782Met) n.3159G>A | |
X | g.53243380A>C | CA413153673 | IQSEC2 | c.3000T>G (p.His1000Gln) c.793T>G c.302T>G c.131T>G c.2841T>G (p.His947Gln) n.592T>G c.2811T>G (p.His937Gln) c.2226T>G (p.His742Gln) c.2937T>G (p.His979Gln) c.2163T>G (p.His721Gln) c.2130T>G (p.His710Gln) n.3164T>G c.2343T>G (p.His781Gln) n.3158T>G | |
X | g.53243380A>G | CA516426287 | IQSEC2 | c.3000T>C (p.His1000=) c.793T>C c.302T>C c.131T>C c.2841T>C (p.His947=) n.592T>C c.2811T>C (p.His937=) c.2226T>C (p.His742=) c.2937T>C (p.His979=) c.2163T>C (p.His721=) c.2130T>C (p.His710=) n.3164T>C c.2343T>C (p.His781=) n.3158T>C | gnomAD v4 |
X | g.53243380A>T | CA413153674 | IQSEC2 | c.3000T>A (p.His1000Gln) c.793T>A c.302T>A c.131T>A c.2841T>A (p.His947Gln) n.592T>A c.2811T>A (p.His937Gln) c.2226T>A (p.His742Gln) c.2937T>A (p.His979Gln) c.2163T>A (p.His721Gln) c.2130T>A (p.His710Gln) n.3164T>A c.2343T>A (p.His781Gln) n.3158T>A | |
X | g.53243381T>A | CA413153676 | IQSEC2 | c.2999A>T (p.His1000Leu) c.792A>T c.301A>T c.130A>T c.2840A>T (p.His947Leu) n.591A>T c.2810A>T (p.His937Leu) c.2225A>T (p.His742Leu) c.2936A>T (p.His979Leu) c.2162A>T (p.His721Leu) c.2129A>T (p.His710Leu) n.3163A>T c.2342A>T (p.His781Leu) n.3157A>T | |
X | g.53243381T>C | CA413153679 | IQSEC2 | c.2999A>G (p.His1000Arg) c.792A>G c.301A>G c.130A>G c.2840A>G (p.His947Arg) n.591A>G c.2810A>G (p.His937Arg) c.2225A>G (p.His742Arg) c.2936A>G (p.His979Arg) c.2162A>G (p.His721Arg) c.2129A>G (p.His710Arg) n.3163A>G c.2342A>G (p.His781Arg) n.3157A>G | |
X | g.53243381T>G | CA413153682 | IQSEC2 | c.2999A>C (p.His1000Pro) c.792A>C c.301A>C c.130A>C c.2840A>C (p.His947Pro) n.591A>C c.2810A>C (p.His937Pro) c.2225A>C (p.His742Pro) c.2936A>C (p.His979Pro) c.2162A>C (p.His721Pro) c.2129A>C (p.His710Pro) n.3163A>C c.2342A>C (p.His781Pro) n.3157A>C | |
X | g.53243381dup | CA2573158980 | IQSEC2 | c.2999dup (p.His1000GlnfsTer?) c.792dup c.301dup c.130dup c.2840dup (p.His947GlnfsTer?) n.591dup c.2810dup (p.His937GlnfsTer?) c.2225dup (p.His742GlnfsTer?) c.2936dup (p.His979GlnfsTer?) c.2162dup (p.His721GlnfsTer?) c.2129dup (p.His710GlnfsTer?) n.3163dup c.2342dup (p.His781GlnfsTer?) n.3157dup | ClinVar dbSNP |
X | g.53243382G>A | CA413153696 | IQSEC2 | c.2998C>T (p.His1000Tyr) c.791C>T c.300C>T c.129C>T c.2839C>T (p.His947Tyr) n.590C>T c.2809C>T (p.His937Tyr) c.2224C>T (p.His742Tyr) c.2935C>T (p.His979Tyr) c.2161C>T (p.His721Tyr) c.2128C>T (p.His710Tyr) n.3162C>T c.2341C>T (p.His781Tyr) n.3156C>T | ClinVar gnomAD v4 |
X | g.53243382G>C | CA413153699 | IQSEC2 | c.2998C>G (p.His1000Asp) c.791C>G c.300C>G c.129C>G c.2839C>G (p.His947Asp) n.590C>G c.2809C>G (p.His937Asp) c.2224C>G (p.His742Asp) c.2935C>G (p.His979Asp) c.2161C>G (p.His721Asp) c.2128C>G (p.His710Asp) n.3162C>G c.2341C>G (p.His781Asp) n.3156C>G | |
X | g.53243382G>T | CA413153700 | IQSEC2 | c.2998C>A (p.His1000Asn) c.791C>A c.300C>A c.129C>A c.2839C>A (p.His947Asn) n.590C>A c.2809C>A (p.His937Asn) c.2224C>A (p.His742Asn) c.2935C>A (p.His979Asn) c.2161C>A (p.His721Asn) c.2128C>A (p.His710Asn) n.3162C>A c.2341C>A (p.His781Asn) n.3156C>A | |
X | g.53243383G>A | CA516426302 | IQSEC2 | c.2997C>T (p.Asp999=) c.790C>T c.299C>T c.128C>T c.2838C>T (p.Asp946=) n.589C>T c.2808C>T (p.Asp936=) c.2223C>T (p.Asp741=) c.2934C>T (p.Asp978=) c.2160C>T (p.Asp720=) c.2127C>T (p.Asp709=) n.3161C>T c.2340C>T (p.Asp780=) n.3155C>T | |
X | g.53243383G>C | CA413153705 | IQSEC2 | c.2997C>G (p.Asp999Glu) c.790C>G c.299C>G c.128C>G c.2838C>G (p.Asp946Glu) n.589C>G c.2808C>G (p.Asp936Glu) c.2223C>G (p.Asp741Glu) c.2934C>G (p.Asp978Glu) c.2160C>G (p.Asp720Glu) c.2127C>G (p.Asp709Glu) n.3161C>G c.2340C>G (p.Asp780Glu) n.3155C>G | |
X | g.53243383G>T | CA413153708 | IQSEC2 | c.2997C>A (p.Asp999Glu) c.790C>A c.299C>A c.128C>A c.2838C>A (p.Asp946Glu) n.589C>A c.2808C>A (p.Asp936Glu) c.2223C>A (p.Asp741Glu) c.2934C>A (p.Asp978Glu) c.2160C>A (p.Asp720Glu) c.2127C>A (p.Asp709Glu) n.3161C>A c.2340C>A (p.Asp780Glu) n.3155C>A | |
X | g.53243384T>A | CA413153709 | IQSEC2 | c.2996A>T (p.Asp999Val) c.789A>T c.298A>T c.127A>T c.2837A>T (p.Asp946Val) n.588A>T c.2807A>T (p.Asp936Val) c.2222A>T (p.Asp741Val) c.2933A>T (p.Asp978Val) c.2159A>T (p.Asp720Val) c.2126A>T (p.Asp709Val) n.3160A>T c.2339A>T (p.Asp780Val) n.3154A>T | |
X | g.53243384T>C | CA413153710 | IQSEC2 | c.2996A>G (p.Asp999Gly) c.789A>G c.298A>G c.127A>G c.2837A>G (p.Asp946Gly) n.588A>G c.2807A>G (p.Asp936Gly) c.2222A>G (p.Asp741Gly) c.2933A>G (p.Asp978Gly) c.2159A>G (p.Asp720Gly) c.2126A>G (p.Asp709Gly) n.3160A>G c.2339A>G (p.Asp780Gly) n.3154A>G | |
X | g.53243384T>G | CA413153712 | IQSEC2 | c.2996A>C (p.Asp999Ala) c.789A>C c.298A>C c.127A>C c.2837A>C (p.Asp946Ala) n.588A>C c.2807A>C (p.Asp936Ala) c.2222A>C (p.Asp741Ala) c.2933A>C (p.Asp978Ala) c.2159A>C (p.Asp720Ala) c.2126A>C (p.Asp709Ala) n.3160A>C c.2339A>C (p.Asp780Ala) n.3154A>C | |
X | g.53243385C>A | CA413153714 | IQSEC2 | c.2995G>T (p.Asp999Tyr) c.788G>T c.297G>T c.126G>T c.2836G>T (p.Asp946Tyr) n.587G>T c.2806G>T (p.Asp936Tyr) c.2221G>T (p.Asp741Tyr) c.2932G>T (p.Asp978Tyr) c.2158G>T (p.Asp720Tyr) c.2125G>T (p.Asp709Tyr) n.3159G>T c.2338G>T (p.Asp780Tyr) n.3153G>T | |
X | g.53243385C>G | CA413153720 | IQSEC2 | c.2995G>C (p.Asp999His) c.788G>C c.297G>C c.126G>C c.2836G>C (p.Asp946His) n.587G>C c.2806G>C (p.Asp936His) c.2221G>C (p.Asp741His) c.2932G>C (p.Asp978His) c.2158G>C (p.Asp720His) c.2125G>C (p.Asp709His) n.3159G>C c.2338G>C (p.Asp780His) n.3153G>C | |
X | g.53243385C>T | CA413153718 | IQSEC2 | c.2995G>A (p.Asp999Asn) c.788G>A c.297G>A c.126G>A c.2836G>A (p.Asp946Asn) n.587G>A c.2806G>A (p.Asp936Asn) c.2221G>A (p.Asp741Asn) c.2932G>A (p.Asp978Asn) c.2158G>A (p.Asp720Asn) c.2125G>A (p.Asp709Asn) n.3159G>A c.2338G>A (p.Asp780Asn) n.3153G>A | |
X | g.53243386A= | CA2429773360 | IQSEC2 | c.2994T= (p.Asp998=) c.787T= c.296T= c.125T= c.2835T= (p.Asp945=) n.586T= c.2805T= (p.Asp935=) c.2220T= (p.Asp740=) c.2931T= (p.Asp977=) c.2157T= (p.Asp719=) c.2124T= (p.Asp708=) n.3158T= c.2337T= (p.Asp779=) n.3152T= | |
X | g.53243386A>C | CA10419885 | IQSEC2 | c.2994T>G (p.Asp998Glu) c.787T>G c.296T>G c.125T>G c.2835T>G (p.Asp945Glu) n.586T>G c.2805T>G (p.Asp935Glu) c.2220T>G (p.Asp740Glu) c.2931T>G (p.Asp977Glu) c.2157T>G (p.Asp719Glu) c.2124T>G (p.Asp708Glu) n.3158T>G c.2337T>G (p.Asp779Glu) n.3152T>G | dbSNP ExAC gnomAD v2 |
X | g.53243386A>G | CA516426308 | IQSEC2 | c.2994T>C (p.Asp998=) c.787T>C c.296T>C c.125T>C c.2835T>C (p.Asp945=) n.586T>C c.2805T>C (p.Asp935=) c.2220T>C (p.Asp740=) c.2931T>C (p.Asp977=) c.2157T>C (p.Asp719=) c.2124T>C (p.Asp708=) n.3158T>C c.2337T>C (p.Asp779=) n.3152T>C | |
X | g.53243386A>T | CA413153728 | IQSEC2 | c.2994T>A (p.Asp998Glu) c.787T>A c.296T>A c.125T>A c.2835T>A (p.Asp945Glu) n.586T>A c.2805T>A (p.Asp935Glu) c.2220T>A (p.Asp740Glu) c.2931T>A (p.Asp977Glu) c.2157T>A (p.Asp719Glu) c.2124T>A (p.Asp708Glu) n.3158T>A c.2337T>A (p.Asp779Glu) n.3152T>A | |
X | g.53243387T>A | CA413153733 | IQSEC2 | c.2993A>T (p.Asp998Val) c.786A>T c.295A>T c.124A>T c.2834A>T (p.Asp945Val) n.585A>T c.2804A>T (p.Asp935Val) c.2219A>T (p.Asp740Val) c.2930A>T (p.Asp977Val) c.2156A>T (p.Asp719Val) c.2123A>T (p.Asp708Val) n.3157A>T c.2336A>T (p.Asp779Val) n.3151A>T | gnomAD v4 |
X | g.53243387T>C | CA413153736 | IQSEC2 | c.2993A>G (p.Asp998Gly) c.786A>G c.295A>G c.124A>G c.2834A>G (p.Asp945Gly) n.585A>G c.2804A>G (p.Asp935Gly) c.2219A>G (p.Asp740Gly) c.2930A>G (p.Asp977Gly) c.2156A>G (p.Asp719Gly) c.2123A>G (p.Asp708Gly) n.3157A>G c.2336A>G (p.Asp779Gly) n.3151A>G | |
X | g.53243387T>G | CA413153737 | IQSEC2 | c.2993A>C (p.Asp998Ala) c.786A>C c.295A>C c.124A>C c.2834A>C (p.Asp945Ala) n.585A>C c.2804A>C (p.Asp935Ala) c.2219A>C (p.Asp740Ala) c.2930A>C (p.Asp977Ala) c.2156A>C (p.Asp719Ala) c.2123A>C (p.Asp708Ala) n.3157A>C c.2336A>C (p.Asp779Ala) n.3151A>C | |
X | g.53243388C>A | CA413153741 | IQSEC2 | c.2992G>T (p.Asp998Tyr) c.785G>T c.294G>T c.123G>T c.2833G>T (p.Asp945Tyr) n.584G>T c.2803G>T (p.Asp935Tyr) c.2218G>T (p.Asp740Tyr) c.2929G>T (p.Asp977Tyr) c.2155G>T (p.Asp719Tyr) c.2122G>T (p.Asp708Tyr) n.3156G>T c.2335G>T (p.Asp779Tyr) n.3150G>T | |
X | g.53243388C= | CA2429773361 | IQSEC2 | c.2992G= (p.Asp998=) c.785G= c.294G= c.123G= c.2833G= (p.Asp945=) n.584G= c.2803G= (p.Asp935=) c.2218G= (p.Asp740=) c.2929G= (p.Asp977=) c.2155G= (p.Asp719=) c.2122G= (p.Asp708=) n.3156G= c.2335G= (p.Asp779=) n.3150G= | |
X | g.53243388C>G | CA413153739 | IQSEC2 | c.2992G>C (p.Asp998His) c.785G>C c.294G>C c.123G>C c.2833G>C (p.Asp945His) n.584G>C c.2803G>C (p.Asp935His) c.2218G>C (p.Asp740His) c.2929G>C (p.Asp977His) c.2155G>C (p.Asp719His) c.2122G>C (p.Asp708His) n.3156G>C c.2335G>C (p.Asp779His) n.3150G>C | |
X | g.53243388C>T | CA10419886 | IQSEC2 | c.2992G>A (p.Asp998Asn) c.785G>A c.294G>A c.123G>A c.2833G>A (p.Asp945Asn) n.584G>A c.2803G>A (p.Asp935Asn) c.2218G>A (p.Asp740Asn) c.2929G>A (p.Asp977Asn) c.2155G>A (p.Asp719Asn) c.2122G>A (p.Asp708Asn) n.3156G>A c.2335G>A (p.Asp779Asn) n.3150G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53243389G>A | CA10419887 | IQSEC2 | c.2991C>T (p.Asn997=) c.784C>T c.293C>T c.122C>T c.2832C>T (p.Asn944=) n.583C>T c.2802C>T (p.Asn934=) c.2217C>T (p.Asn739=) c.2928C>T (p.Asn976=) c.2154C>T (p.Asn718=) c.2121C>T (p.Asn707=) n.3155C>T c.2334C>T (p.Asn778=) n.3149C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53243389G>C | CA413153749 | IQSEC2 | c.2991C>G (p.Asn997Lys) c.784C>G c.293C>G c.122C>G c.2832C>G (p.Asn944Lys) n.583C>G c.2802C>G (p.Asn934Lys) c.2217C>G (p.Asn739Lys) c.2928C>G (p.Asn976Lys) c.2154C>G (p.Asn718Lys) c.2121C>G (p.Asn707Lys) n.3155C>G c.2334C>G (p.Asn778Lys) n.3149C>G | |
X | g.53243389G= | CA2429773362 | IQSEC2 | c.2991C= (p.Asn997=) c.784C= c.293C= c.122C= c.2832C= (p.Asn944=) n.583C= c.2802C= (p.Asn934=) c.2217C= (p.Asn739=) c.2928C= (p.Asn976=) c.2154C= (p.Asn718=) c.2121C= (p.Asn707=) n.3155C= c.2334C= (p.Asn778=) n.3149C= | |
X | g.53243389G>T | CA413153767 | IQSEC2 | c.2991C>A (p.Asn997Lys) c.784C>A c.293C>A c.122C>A c.2832C>A (p.Asn944Lys) n.583C>A c.2802C>A (p.Asn934Lys) c.2217C>A (p.Asn739Lys) c.2928C>A (p.Asn976Lys) c.2154C>A (p.Asn718Lys) c.2121C>A (p.Asn707Lys) n.3155C>A c.2334C>A (p.Asn778Lys) n.3149C>A | |
X | g.53243390T>A | CA413153772 | IQSEC2 | c.2990A>T (p.Asn997Ile) c.783A>T c.292A>T c.121A>T c.2831A>T (p.Asn944Ile) n.582A>T c.2801A>T (p.Asn934Ile) c.2216A>T (p.Asn739Ile) c.2927A>T (p.Asn976Ile) c.2153A>T (p.Asn718Ile) c.2120A>T (p.Asn707Ile) n.3154A>T c.2333A>T (p.Asn778Ile) n.3148A>T | |
X | g.53243390T>C | CA329164390 | IQSEC2 | c.2990A>G (p.Asn997Ser) c.783A>G c.292A>G c.121A>G c.2831A>G (p.Asn944Ser) n.582A>G c.2801A>G (p.Asn934Ser) c.2216A>G (p.Asn739Ser) c.2927A>G (p.Asn976Ser) c.2153A>G (p.Asn718Ser) c.2120A>G (p.Asn707Ser) n.3154A>G c.2333A>G (p.Asn778Ser) n.3148A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53243390T>G | CA413153776 | IQSEC2 | c.2990A>C (p.Asn997Thr) c.783A>C c.292A>C c.121A>C c.2831A>C (p.Asn944Thr) n.582A>C c.2801A>C (p.Asn934Thr) c.2216A>C (p.Asn739Thr) c.2927A>C (p.Asn976Thr) c.2153A>C (p.Asn718Thr) c.2120A>C (p.Asn707Thr) n.3154A>C c.2333A>C (p.Asn778Thr) n.3148A>C | |
X | g.53243390T= | CA2429773363 | IQSEC2 | c.2990A= (p.Asn997=) c.783A= c.292A= c.121A= c.2831A= (p.Asn944=) n.582A= c.2801A= (p.Asn934=) c.2216A= (p.Asn739=) c.2927A= (p.Asn976=) c.2153A= (p.Asn718=) c.2120A= (p.Asn707=) n.3154A= c.2333A= (p.Asn778=) n.3148A= | |
X | g.53243391T>A | CA413153779 | IQSEC2 | c.2989A>T (p.Asn997Tyr) c.782A>T c.291A>T c.120A>T c.2830A>T (p.Asn944Tyr) n.581A>T c.2800A>T (p.Asn934Tyr) c.2215A>T (p.Asn739Tyr) c.2926A>T (p.Asn976Tyr) c.2152A>T (p.Asn718Tyr) c.2119A>T (p.Asn707Tyr) n.3153A>T c.2332A>T (p.Asn778Tyr) n.3147A>T | |
X | g.53243391T>C | CA413153786 | IQSEC2 | c.2989A>G (p.Asn997Asp) c.782A>G c.291A>G c.120A>G c.2830A>G (p.Asn944Asp) n.581A>G c.2800A>G (p.Asn934Asp) c.2215A>G (p.Asn739Asp) c.2926A>G (p.Asn976Asp) c.2152A>G (p.Asn718Asp) c.2119A>G (p.Asn707Asp) n.3153A>G c.2332A>G (p.Asn778Asp) n.3147A>G | |
X | g.53243391T>G | CA413153783 | IQSEC2 | c.2989A>C (p.Asn997His) c.782A>C c.291A>C c.120A>C c.2830A>C (p.Asn944His) n.581A>C c.2800A>C (p.Asn934His) c.2215A>C (p.Asn739His) c.2926A>C (p.Asn976His) c.2152A>C (p.Asn718His) c.2119A>C (p.Asn707His) n.3153A>C c.2332A>C (p.Asn778His) n.3147A>C | |
X | g.53243392G>A | CA516426328 | IQSEC2 | c.2988C>T (p.Thr996=) c.781C>T c.290C>T c.119C>T c.2829C>T (p.Thr943=) n.580C>T c.2799C>T (p.Thr933=) c.2214C>T (p.Thr738=) c.2925C>T (p.Thr975=) c.2151C>T (p.Thr717=) c.2118C>T (p.Thr706=) n.3152C>T c.2331C>T (p.Thr777=) n.3146C>T | |
X | g.53243392G>C | CA516426329 | IQSEC2 | c.2988C>G (p.Thr996=) c.781C>G c.290C>G c.119C>G c.2829C>G (p.Thr943=) n.580C>G c.2799C>G (p.Thr933=) c.2214C>G (p.Thr738=) c.2925C>G (p.Thr975=) c.2151C>G (p.Thr717=) c.2118C>G (p.Thr706=) n.3152C>G c.2331C>G (p.Thr777=) n.3146C>G | |
X | g.53243392G>T | CA516426331 | IQSEC2 | c.2988C>A (p.Thr996=) c.781C>A c.290C>A c.119C>A c.2829C>A (p.Thr943=) n.580C>A c.2799C>A (p.Thr933=) c.2214C>A (p.Thr738=) c.2925C>A (p.Thr975=) c.2151C>A (p.Thr717=) c.2118C>A (p.Thr706=) n.3152C>A c.2331C>A (p.Thr777=) n.3146C>A | gnomAD v4 |
X | g.53243393G>A | CA413153793 | IQSEC2 | c.2987C>T (p.Thr996Ile) c.780C>T c.289C>T c.118C>T c.2828C>T (p.Thr943Ile) n.579C>T c.2798C>T (p.Thr933Ile) c.2213C>T (p.Thr738Ile) c.2924C>T (p.Thr975Ile) c.2150C>T (p.Thr717Ile) c.2117C>T (p.Thr706Ile) n.3151C>T c.2330C>T (p.Thr777Ile) n.3145C>T | |
X | g.53243393G>C | CA413153798 | IQSEC2 | c.2987C>G (p.Thr996Ser) c.780C>G c.289C>G c.118C>G c.2828C>G (p.Thr943Ser) n.579C>G c.2798C>G (p.Thr933Ser) c.2213C>G (p.Thr738Ser) c.2924C>G (p.Thr975Ser) c.2150C>G (p.Thr717Ser) c.2117C>G (p.Thr706Ser) n.3151C>G c.2330C>G (p.Thr777Ser) n.3145C>G | ClinVar gnomAD v4 |
X | g.53243393G>T | CA413153803 | IQSEC2 | c.2987C>A (p.Thr996Asn) c.780C>A c.289C>A c.118C>A c.2828C>A (p.Thr943Asn) n.579C>A c.2798C>A (p.Thr933Asn) c.2213C>A (p.Thr738Asn) c.2924C>A (p.Thr975Asn) c.2150C>A (p.Thr717Asn) c.2117C>A (p.Thr706Asn) n.3151C>A c.2330C>A (p.Thr777Asn) n.3145C>A | |
X | g.53243394T>A | CA413153809 | IQSEC2 | c.2986A>T (p.Thr996Ser) c.779A>T c.288A>T c.117A>T c.2827A>T (p.Thr943Ser) n.578A>T c.2797A>T (p.Thr933Ser) c.2212A>T (p.Thr738Ser) c.2923A>T (p.Thr975Ser) c.2149A>T (p.Thr717Ser) c.2116A>T (p.Thr706Ser) n.3150A>T c.2329A>T (p.Thr777Ser) n.3144A>T | gnomAD v4 |
X | g.53243394T>C | CA413153810 | IQSEC2 | c.2986A>G (p.Thr996Ala) c.779A>G c.288A>G c.117A>G c.2827A>G (p.Thr943Ala) n.578A>G c.2797A>G (p.Thr933Ala) c.2212A>G (p.Thr738Ala) c.2923A>G (p.Thr975Ala) c.2149A>G (p.Thr717Ala) c.2116A>G (p.Thr706Ala) n.3150A>G c.2329A>G (p.Thr777Ala) n.3144A>G | |
X | g.53243394T>G | CA413153811 | IQSEC2 | c.2986A>C (p.Thr996Pro) c.779A>C c.288A>C c.117A>C c.2827A>C (p.Thr943Pro) n.578A>C c.2797A>C (p.Thr933Pro) c.2212A>C (p.Thr738Pro) c.2923A>C (p.Thr975Pro) c.2149A>C (p.Thr717Pro) c.2116A>C (p.Thr706Pro) n.3150A>C c.2329A>C (p.Thr777Pro) n.3144A>C | |
X | g.53243395C>A | CA516426342 | IQSEC2 | c.2985G>T (p.Arg995=) c.778G>T c.287G>T c.116G>T c.2826G>T (p.Arg942=) n.577G>T c.2796G>T (p.Arg932=) c.2211G>T (p.Arg737=) c.2922G>T (p.Arg974=) c.2148G>T (p.Arg716=) c.2115G>T (p.Arg705=) n.3149G>T c.2328G>T (p.Arg776=) n.3143G>T | gnomAD v4 |
X | g.53243395C= | CA2429773364 | IQSEC2 | c.2985G= (p.Arg995=) c.778G= c.287G= c.116G= c.2826G= (p.Arg942=) n.577G= c.2796G= (p.Arg932=) c.2211G= (p.Arg737=) c.2922G= (p.Arg974=) c.2148G= (p.Arg716=) c.2115G= (p.Arg705=) n.3149G= c.2328G= (p.Arg776=) n.3143G= | |
X | g.53243395C>G | CA516426344 | IQSEC2 | c.2985G>C (p.Arg995=) c.778G>C c.287G>C c.116G>C c.2826G>C (p.Arg942=) n.577G>C c.2796G>C (p.Arg932=) c.2211G>C (p.Arg737=) c.2922G>C (p.Arg974=) c.2148G>C (p.Arg716=) c.2115G>C (p.Arg705=) n.3149G>C c.2328G>C (p.Arg776=) n.3143G>C | |
X | g.53243395C>T | CA516426345 | IQSEC2 | c.2985G>A (p.Arg995=) c.778G>A c.287G>A c.116G>A c.2826G>A (p.Arg942=) n.577G>A c.2796G>A (p.Arg932=) c.2211G>A (p.Arg737=) c.2922G>A (p.Arg974=) c.2148G>A (p.Arg716=) c.2115G>A (p.Arg705=) n.3149G>A c.2328G>A (p.Arg776=) n.3143G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.53243396C>A | CA413153812 | IQSEC2 | c.2984G>T (p.Arg995Leu) c.777G>T c.286G>T c.115G>T c.2825G>T (p.Arg942Leu) n.576G>T c.2795G>T (p.Arg932Leu) c.2210G>T (p.Arg737Leu) c.2921G>T (p.Arg974Leu) c.2147G>T (p.Arg716Leu) c.2114G>T (p.Arg705Leu) n.3148G>T c.2327G>T (p.Arg776Leu) n.3142G>T | gnomAD v4 |
X | g.53243396C= | CA2429773365 | IQSEC2 | c.2984G= (p.Arg995=) c.777G= c.286G= c.115G= c.2825G= (p.Arg942=) n.576G= c.2795G= (p.Arg932=) c.2210G= (p.Arg737=) c.2921G= (p.Arg974=) c.2147G= (p.Arg716=) c.2114G= (p.Arg705=) n.3148G= c.2327G= (p.Arg776=) n.3142G= | |
X | g.53243396C>G | CA413153816 | IQSEC2 | c.2984G>C (p.Arg995Pro) c.777G>C c.286G>C c.115G>C c.2825G>C (p.Arg942Pro) n.576G>C c.2795G>C (p.Arg932Pro) c.2210G>C (p.Arg737Pro) c.2921G>C (p.Arg974Pro) c.2147G>C (p.Arg716Pro) c.2114G>C (p.Arg705Pro) n.3148G>C c.2327G>C (p.Arg776Pro) n.3142G>C | |
X | g.53243396C>T | CA329164394 | IQSEC2 | c.2984G>A (p.Arg995Gln) c.777G>A c.286G>A c.115G>A c.2825G>A (p.Arg942Gln) n.576G>A c.2795G>A (p.Arg932Gln) c.2210G>A (p.Arg737Gln) c.2921G>A (p.Arg974Gln) c.2147G>A (p.Arg716Gln) c.2114G>A (p.Arg705Gln) n.3148G>A c.2327G>A (p.Arg776Gln) n.3142G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53243397del | CA2820945953 | IQSEC2 | c.2983del (p.Arg995GlyfsTer16) c.776del c.285del c.114del c.2824del (p.Arg942GlyfsTer16) n.575del c.2794del (p.Arg932GlyfsTer16) c.2209del (p.Arg737GlyfsTer16) c.2920del (p.Arg974GlyfsTer16) c.2146del (p.Arg716GlyfsTer16) c.2113del (p.Arg705GlyfsTer16) n.3147del c.2326del (p.Arg776GlyfsTer16) n.3141del | |
X | g.53243397G>A | CA413153821 | IQSEC2 | c.2983C>T (p.Arg995Trp) c.776C>T c.285C>T c.114C>T c.2824C>T (p.Arg942Trp) n.575C>T c.2794C>T (p.Arg932Trp) c.2209C>T (p.Arg737Trp) c.2920C>T (p.Arg974Trp) c.2146C>T (p.Arg716Trp) c.2113C>T (p.Arg705Trp) n.3147C>T c.2326C>T (p.Arg776Trp) n.3141C>T | gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53243397G>C | CA413153826 | IQSEC2 | c.2983C>G (p.Arg995Gly) c.776C>G c.285C>G c.114C>G c.2824C>G (p.Arg942Gly) n.575C>G c.2794C>G (p.Arg932Gly) c.2209C>G (p.Arg737Gly) c.2920C>G (p.Arg974Gly) c.2146C>G (p.Arg716Gly) c.2113C>G (p.Arg705Gly) n.3147C>G c.2326C>G (p.Arg776Gly) n.3141C>G | |
X | g.53243397G= | CA2429773366 | IQSEC2 | c.2983C= (p.Arg995=) c.776C= c.285C= c.114C= c.2824C= (p.Arg942=) n.575C= c.2794C= (p.Arg932=) c.2209C= (p.Arg737=) c.2920C= (p.Arg974=) c.2146C= (p.Arg716=) c.2113C= (p.Arg705=) n.3147C= c.2326C= (p.Arg776=) n.3141C= | |
X | g.53243397G>T | CA516426352 | IQSEC2 | c.2983C>A (p.Arg995=) c.776C>A c.285C>A c.114C>A c.2824C>A (p.Arg942=) n.575C>A c.2794C>A (p.Arg932=) c.2209C>A (p.Arg737=) c.2920C>A (p.Arg974=) c.2146C>A (p.Arg716=) c.2113C>A (p.Arg705=) n.3147C>A c.2326C>A (p.Arg776=) n.3141C>A | |
X | g.53243398C>A | CA516426353 | IQSEC2 | c.2982G>T (p.Leu994=) c.775G>T c.284G>T c.113G>T c.2823G>T (p.Leu941=) n.574G>T c.2793G>T (p.Leu931=) c.2208G>T (p.Leu736=) c.2919G>T (p.Leu973=) c.2145G>T (p.Leu715=) c.2112G>T (p.Leu704=) n.3146G>T c.2325G>T (p.Leu775=) n.3140G>T | gnomAD v4 |
X | g.53243398C>G | CA516426355 | IQSEC2 | c.2982G>C (p.Leu994=) c.775G>C c.284G>C c.113G>C c.2823G>C (p.Leu941=) n.574G>C c.2793G>C (p.Leu931=) c.2208G>C (p.Leu736=) c.2919G>C (p.Leu973=) c.2145G>C (p.Leu715=) c.2112G>C (p.Leu704=) n.3146G>C c.2325G>C (p.Leu775=) n.3140G>C | |
X | g.53243398C>T | CA516426357 | IQSEC2 | c.2982G>A (p.Leu994=) c.775G>A c.284G>A c.113G>A c.2823G>A (p.Leu941=) n.574G>A c.2793G>A (p.Leu931=) c.2208G>A (p.Leu736=) c.2919G>A (p.Leu973=) c.2145G>A (p.Leu715=) c.2112G>A (p.Leu704=) n.3146G>A c.2325G>A (p.Leu775=) n.3140G>A | |
X | g.53243400_53243404dup | CA1139667565 | IQSEC2 | c.2978_2982dup (p.Arg995AsnfsTer18) c.771_775dup c.280_284dup c.109_113dup c.2819_2823dup (p.Arg942AsnfsTer18) n.570_574dup c.2789_2793dup (p.Arg932AsnfsTer18) c.2204_2208dup (p.Arg737AsnfsTer18) c.2915_2919dup (p.Arg974AsnfsTer18) c.2141_2145dup (p.Arg716AsnfsTer18) c.2108_2112dup (p.Arg705AsnfsTer18) n.3142_3146dup c.2321_2325dup (p.Arg776AsnfsTer18) n.3136_3140dup | ClinVar dbSNP |
X | g.53243399A>C | CA413153837 | IQSEC2 | c.2981T>G (p.Leu994Arg) c.774T>G c.283T>G c.112T>G c.2822T>G (p.Leu941Arg) n.573T>G c.2792T>G (p.Leu931Arg) c.2207T>G (p.Leu736Arg) c.2918T>G (p.Leu973Arg) c.2144T>G (p.Leu715Arg) c.2111T>G (p.Leu704Arg) n.3145T>G c.2324T>G (p.Leu775Arg) n.3139T>G | |
X | g.53243399A>G | CA413153832 | IQSEC2 | c.2981T>C (p.Leu994Pro) c.774T>C c.283T>C c.112T>C c.2822T>C (p.Leu941Pro) n.573T>C c.2792T>C (p.Leu931Pro) c.2207T>C (p.Leu736Pro) c.2918T>C (p.Leu973Pro) c.2144T>C (p.Leu715Pro) c.2111T>C (p.Leu704Pro) n.3145T>C c.2324T>C (p.Leu775Pro) n.3139T>C | |
X | g.53243399A>T | CA413153835 | IQSEC2 | c.2981T>A (p.Leu994Gln) c.774T>A c.283T>A c.112T>A c.2822T>A (p.Leu941Gln) n.573T>A c.2792T>A (p.Leu931Gln) c.2207T>A (p.Leu736Gln) c.2918T>A (p.Leu973Gln) c.2144T>A (p.Leu715Gln) c.2111T>A (p.Leu704Gln) n.3145T>A c.2324T>A (p.Leu775Gln) n.3139T>A | |
X | g.53243400G>A | CA516426365 | IQSEC2 | c.2980C>T (p.Leu994=) c.773C>T c.282C>T c.111C>T c.2821C>T (p.Leu941=) n.572C>T c.2791C>T (p.Leu931=) c.2206C>T (p.Leu736=) c.2917C>T (p.Leu973=) c.2143C>T (p.Leu715=) c.2110C>T (p.Leu704=) n.3144C>T c.2323C>T (p.Leu775=) n.3138C>T | ClinVar dbSNP gnomAD v4 |
X | g.53243400G>C | CA413153844 | IQSEC2 | c.2980C>G (p.Leu994Val) c.773C>G c.282C>G c.111C>G c.2821C>G (p.Leu941Val) n.572C>G c.2791C>G (p.Leu931Val) c.2206C>G (p.Leu736Val) c.2917C>G (p.Leu973Val) c.2143C>G (p.Leu715Val) c.2110C>G (p.Leu704Val) n.3144C>G c.2323C>G (p.Leu775Val) n.3138C>G | |
X | g.53243400G>T | CA413153849 | IQSEC2 | c.2980C>A (p.Leu994Met) c.773C>A c.282C>A c.111C>A c.2821C>A (p.Leu941Met) n.572C>A c.2791C>A (p.Leu931Met) c.2206C>A (p.Leu736Met) c.2917C>A (p.Leu973Met) c.2143C>A (p.Leu715Met) c.2110C>A (p.Leu704Met) n.3144C>A c.2323C>A (p.Leu775Met) n.3138C>A | |
X | g.53243401T>A | CA413153855 | IQSEC2 | c.2979A>T (p.Glu993Asp) c.772A>T c.281A>T c.110A>T c.2820A>T (p.Glu940Asp) n.571A>T c.2790A>T (p.Glu930Asp) c.2205A>T (p.Glu735Asp) c.2916A>T (p.Glu972Asp) c.2142A>T (p.Glu714Asp) c.2109A>T (p.Glu703Asp) n.3143A>T c.2322A>T (p.Glu774Asp) n.3137A>T | |
X | g.53243401T>C | CA516426367 | IQSEC2 | c.2979A>G (p.Glu993=) c.772A>G c.281A>G c.110A>G c.2820A>G (p.Glu940=) n.571A>G c.2790A>G (p.Glu930=) c.2205A>G (p.Glu735=) c.2916A>G (p.Glu972=) c.2142A>G (p.Glu714=) c.2109A>G (p.Glu703=) n.3143A>G c.2322A>G (p.Glu774=) n.3137A>G | gnomAD v4 |
X | g.53243401T>G | CA413153859 | IQSEC2 | c.2979A>C (p.Glu993Asp) c.772A>C c.281A>C c.110A>C c.2820A>C (p.Glu940Asp) n.571A>C c.2790A>C (p.Glu930Asp) c.2205A>C (p.Glu735Asp) c.2916A>C (p.Glu972Asp) c.2142A>C (p.Glu714Asp) c.2109A>C (p.Glu703Asp) n.3143A>C c.2322A>C (p.Glu774Asp) n.3137A>C | |
X | g.53243402T>A | CA413153865 | IQSEC2 | c.2978A>T (p.Glu993Val) c.771A>T c.280A>T c.109A>T c.2819A>T (p.Glu940Val) n.570A>T c.2789A>T (p.Glu930Val) c.2204A>T (p.Glu735Val) c.2915A>T (p.Glu972Val) c.2141A>T (p.Glu714Val) c.2108A>T (p.Glu703Val) n.3142A>T c.2321A>T (p.Glu774Val) n.3136A>T | |
X | g.53243402T>C | CA413153868 | IQSEC2 | c.2978A>G (p.Glu993Gly) c.771A>G c.280A>G c.109A>G c.2819A>G (p.Glu940Gly) n.570A>G c.2789A>G (p.Glu930Gly) c.2204A>G (p.Glu735Gly) c.2915A>G (p.Glu972Gly) c.2141A>G (p.Glu714Gly) c.2108A>G (p.Glu703Gly) n.3142A>G c.2321A>G (p.Glu774Gly) n.3136A>G | |
X | g.53243402T>G | CA413153873 | IQSEC2 | c.2978A>C (p.Glu993Ala) c.771A>C c.280A>C c.109A>C c.2819A>C (p.Glu940Ala) n.570A>C c.2789A>C (p.Glu930Ala) c.2204A>C (p.Glu735Ala) c.2915A>C (p.Glu972Ala) c.2141A>C (p.Glu714Ala) c.2108A>C (p.Glu703Ala) n.3142A>C c.2321A>C (p.Glu774Ala) n.3136A>C | |
X | g.53243403C>A | CA413153886 | IQSEC2 | c.2977G>T (p.Glu993Ter) c.770G>T c.279G>T c.108G>T c.2818G>T (p.Glu940Ter) n.569G>T c.2788G>T (p.Glu930Ter) c.2203G>T (p.Glu735Ter) c.2914G>T (p.Glu972Ter) c.2140G>T (p.Glu714Ter) c.2107G>T (p.Glu703Ter) n.3141G>T c.2320G>T (p.Glu774Ter) n.3135G>T | gnomAD v4 |
X | g.53243403C>G | CA413153884 | IQSEC2 | c.2977G>C (p.Glu993Gln) c.770G>C c.279G>C c.108G>C c.2818G>C (p.Glu940Gln) n.569G>C c.2788G>C (p.Glu930Gln) c.2203G>C (p.Glu735Gln) c.2914G>C (p.Glu972Gln) c.2140G>C (p.Glu714Gln) c.2107G>C (p.Glu703Gln) n.3141G>C c.2320G>C (p.Glu774Gln) n.3135G>C | |
X | g.53243403C>T | CA413153880 | IQSEC2 | c.2977G>A (p.Glu993Lys) c.770G>A c.279G>A c.108G>A c.2818G>A (p.Glu940Lys) n.569G>A c.2788G>A (p.Glu930Lys) c.2203G>A (p.Glu735Lys) c.2914G>A (p.Glu972Lys) c.2140G>A (p.Glu714Lys) c.2107G>A (p.Glu703Lys) n.3141G>A c.2320G>A (p.Glu774Lys) n.3135G>A | gnomAD v4 |
X | g.53243404A>C | CA516426371 | IQSEC2 | c.2976T>G (p.Arg992=) c.769T>G c.278T>G c.107T>G c.2817T>G (p.Arg939=) n.568T>G c.2787T>G (p.Arg929=) c.2202T>G (p.Arg734=) c.2913T>G (p.Arg971=) c.2139T>G (p.Arg713=) c.2106T>G (p.Arg702=) n.3140T>G c.2319T>G (p.Arg773=) n.3134T>G | gnomAD v4 |
X | g.53243404A>G | CA516426372 | IQSEC2 | c.2976T>C (p.Arg992=) c.769T>C c.278T>C c.107T>C c.2817T>C (p.Arg939=) n.568T>C c.2787T>C (p.Arg929=) c.2202T>C (p.Arg734=) c.2913T>C (p.Arg971=) c.2139T>C (p.Arg713=) c.2106T>C (p.Arg702=) n.3140T>C c.2319T>C (p.Arg773=) n.3134T>C | gnomAD v4 |
X | g.53243404A>T | CA516426373 | IQSEC2 | c.2976T>A (p.Arg992=) c.769T>A c.278T>A c.107T>A c.2817T>A (p.Arg939=) n.568T>A c.2787T>A (p.Arg929=) c.2202T>A (p.Arg734=) c.2913T>A (p.Arg971=) c.2139T>A (p.Arg713=) c.2106T>A (p.Arg702=) n.3140T>A c.2319T>A (p.Arg773=) n.3134T>A | |
X | g.53243405C>A | CA413153892 | IQSEC2 | c.2975G>T (p.Arg992Leu) c.768G>T c.277G>T c.106G>T c.2816G>T (p.Arg939Leu) n.567G>T c.2786G>T (p.Arg929Leu) c.2201G>T (p.Arg734Leu) c.2912G>T (p.Arg971Leu) c.2138G>T (p.Arg713Leu) c.2105G>T (p.Arg702Leu) n.3139G>T c.2318G>T (p.Arg773Leu) n.3133G>T | gnomAD v4 |
X | g.53243405C= | CA2429773367 | IQSEC2 | c.2975G= (p.Arg992=) c.768G= c.277G= c.106G= c.2816G= (p.Arg939=) n.567G= c.2786G= (p.Arg929=) c.2201G= (p.Arg734=) c.2912G= (p.Arg971=) c.2138G= (p.Arg713=) c.2105G= (p.Arg702=) n.3139G= c.2318G= (p.Arg773=) n.3133G= | |
X | g.53243405C>G | CA413153893 | IQSEC2 | c.2975G>C (p.Arg992Pro) c.768G>C c.277G>C c.106G>C c.2816G>C (p.Arg939Pro) n.567G>C c.2786G>C (p.Arg929Pro) c.2201G>C (p.Arg734Pro) c.2912G>C (p.Arg971Pro) c.2138G>C (p.Arg713Pro) c.2105G>C (p.Arg702Pro) n.3139G>C c.2318G>C (p.Arg773Pro) n.3133G>C | |
X | g.53243405C>T | CA10419888 | IQSEC2 | c.2975G>A (p.Arg992His) c.768G>A c.277G>A c.106G>A c.2816G>A (p.Arg939His) n.567G>A c.2786G>A (p.Arg929His) c.2201G>A (p.Arg734His) c.2912G>A (p.Arg971His) c.2138G>A (p.Arg713His) c.2105G>A (p.Arg702His) n.3139G>A c.2318G>A (p.Arg773His) n.3133G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53243406G>A | CA413153899 | IQSEC2 | c.2974C>T (p.Arg992Cys) c.767C>T c.276C>T c.105C>T c.2815C>T (p.Arg939Cys) n.566C>T c.2785C>T (p.Arg929Cys) c.2200C>T (p.Arg734Cys) c.2911C>T (p.Arg971Cys) c.2137C>T (p.Arg713Cys) c.2104C>T (p.Arg702Cys) n.3138C>T c.2317C>T (p.Arg773Cys) n.3132C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53243406G>C | CA413153906 | IQSEC2 | c.2974C>G (p.Arg992Gly) c.767C>G c.276C>G c.105C>G c.2815C>G (p.Arg939Gly) n.566C>G c.2785C>G (p.Arg929Gly) c.2200C>G (p.Arg734Gly) c.2911C>G (p.Arg971Gly) c.2137C>G (p.Arg713Gly) c.2104C>G (p.Arg702Gly) n.3138C>G c.2317C>G (p.Arg773Gly) n.3132C>G | |
X | g.53243406G= | CA2429773368 | IQSEC2 | c.2974C= (p.Arg992=) c.767C= c.276C= c.105C= c.2815C= (p.Arg939=) n.566C= c.2785C= (p.Arg929=) c.2200C= (p.Arg734=) c.2911C= (p.Arg971=) c.2137C= (p.Arg713=) c.2104C= (p.Arg702=) n.3138C= c.2317C= (p.Arg773=) n.3132C= | |
X | g.53243406G>T | CA413153909 | IQSEC2 | c.2974C>A (p.Arg992Ser) c.767C>A c.276C>A c.105C>A c.2815C>A (p.Arg939Ser) n.566C>A c.2785C>A (p.Arg929Ser) c.2200C>A (p.Arg734Ser) c.2911C>A (p.Arg971Ser) c.2137C>A (p.Arg713Ser) c.2104C>A (p.Arg702Ser) n.3138C>A c.2317C>A (p.Arg773Ser) n.3132C>A | gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53243407C>A | CA516426378 | IQSEC2 | c.2973G>T (p.Gly991=) c.766G>T c.275G>T c.104G>T c.2814G>T (p.Gly938=) n.565G>T c.2784G>T (p.Gly928=) c.2199G>T (p.Gly733=) c.2910G>T (p.Gly970=) c.2136G>T (p.Gly712=) c.2103G>T (p.Gly701=) n.3137G>T c.2316G>T (p.Gly772=) n.3131G>T | gnomAD v4 |
X | g.53243407C>G | CA516426379 | IQSEC2 | c.2973G>C (p.Gly991=) c.766G>C c.275G>C c.104G>C c.2814G>C (p.Gly938=) n.565G>C c.2784G>C (p.Gly928=) c.2199G>C (p.Gly733=) c.2910G>C (p.Gly970=) c.2136G>C (p.Gly712=) c.2103G>C (p.Gly701=) n.3137G>C c.2316G>C (p.Gly772=) n.3131G>C | |
X | g.53243407C>T | CA516426380 | IQSEC2 | c.2973G>A (p.Gly991=) c.766G>A c.275G>A c.104G>A c.2814G>A (p.Gly938=) n.565G>A c.2784G>A (p.Gly928=) c.2199G>A (p.Gly733=) c.2910G>A (p.Gly970=) c.2136G>A (p.Gly712=) c.2103G>A (p.Gly701=) n.3137G>A c.2316G>A (p.Gly772=) n.3131G>A | |
X | g.53243408C>A | CA413153914 | IQSEC2 | c.2972G>T (p.Gly991Val) c.765G>T c.274G>T c.103G>T c.2813G>T (p.Gly938Val) n.564G>T c.2783G>T (p.Gly928Val) c.2198G>T (p.Gly733Val) c.2909G>T (p.Gly970Val) c.2135G>T (p.Gly712Val) c.2102G>T (p.Gly701Val) n.3136G>T c.2315G>T (p.Gly772Val) n.3130G>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.53243408C= | CA2429773369 | IQSEC2 | c.2972G= (p.Gly991=) c.765G= c.274G= c.103G= c.2813G= (p.Gly938=) n.564G= c.2783G= (p.Gly928=) c.2198G= (p.Gly733=) c.2909G= (p.Gly970=) c.2135G= (p.Gly712=) c.2102G= (p.Gly701=) n.3136G= c.2315G= (p.Gly772=) n.3130G= | |
X | g.53243408C>G | CA413153922 | IQSEC2 | c.2972G>C (p.Gly991Ala) c.765G>C c.274G>C c.103G>C c.2813G>C (p.Gly938Ala) n.564G>C c.2783G>C (p.Gly928Ala) c.2198G>C (p.Gly733Ala) c.2909G>C (p.Gly970Ala) c.2135G>C (p.Gly712Ala) c.2102G>C (p.Gly701Ala) n.3136G>C c.2315G>C (p.Gly772Ala) n.3130G>C | |
X | g.53243408C>T | CA413153918 | IQSEC2 | c.2972G>A (p.Gly991Glu) c.765G>A c.274G>A c.103G>A c.2813G>A (p.Gly938Glu) n.564G>A c.2783G>A (p.Gly928Glu) c.2198G>A (p.Gly733Glu) c.2909G>A (p.Gly970Glu) c.2135G>A (p.Gly712Glu) c.2102G>A (p.Gly701Glu) n.3136G>A c.2315G>A (p.Gly772Glu) n.3130G>A | gnomAD v4 |
X | g.53243409C>A | CA413153923 | IQSEC2 | c.2971G>T (p.Gly991Trp) c.764G>T c.273G>T c.102G>T c.2812G>T (p.Gly938Trp) n.563G>T c.2782G>T (p.Gly928Trp) c.2197G>T (p.Gly733Trp) c.2908G>T (p.Gly970Trp) c.2134G>T (p.Gly712Trp) c.2101G>T (p.Gly701Trp) n.3135G>T c.2314G>T (p.Gly772Trp) n.3129G>T | gnomAD v4 |
X | g.53243409C>G | CA413153924 | IQSEC2 | c.2971G>C (p.Gly991Arg) c.764G>C c.273G>C c.102G>C c.2812G>C (p.Gly938Arg) n.563G>C c.2782G>C (p.Gly928Arg) c.2197G>C (p.Gly733Arg) c.2908G>C (p.Gly970Arg) c.2134G>C (p.Gly712Arg) c.2101G>C (p.Gly701Arg) n.3135G>C c.2314G>C (p.Gly772Arg) n.3129G>C | gnomAD v4 |
X | g.53243409C>T | CA413153925 | IQSEC2 | c.2971G>A (p.Gly991Arg) c.764G>A c.273G>A c.102G>A c.2812G>A (p.Gly938Arg) n.563G>A c.2782G>A (p.Gly928Arg) c.2197G>A (p.Gly733Arg) c.2908G>A (p.Gly970Arg) c.2134G>A (p.Gly712Arg) c.2101G>A (p.Gly701Arg) n.3135G>A c.2314G>A (p.Gly772Arg) n.3129G>A | |
X | g.53243410C>A | CA413153926 | IQSEC2 | c.2970G>T (p.Gln990His) c.763G>T c.272G>T c.101G>T c.2811G>T (p.Gln937His) n.562G>T c.2781G>T (p.Gln927His) c.2196G>T (p.Gln732His) c.2907G>T (p.Gln969His) c.2133G>T (p.Gln711His) c.2100G>T (p.Gln700His) n.3134G>T c.2313G>T (p.Gln771His) n.3128G>T | gnomAD v4 |
X | g.53243410C= | CA2429773370 | IQSEC2 | c.2970G= (p.Gln990=) c.763G= c.272G= c.101G= c.2811G= (p.Gln937=) n.562G= c.2781G= (p.Gln927=) c.2196G= (p.Gln732=) c.2907G= (p.Gln969=) c.2133G= (p.Gln711=) c.2100G= (p.Gln700=) n.3134G= c.2313G= (p.Gln771=) n.3128G= | |
X | g.53243410C>G | CA413153928 | IQSEC2 | c.2970G>C (p.Gln990His) c.763G>C c.272G>C c.101G>C c.2811G>C (p.Gln937His) n.562G>C c.2781G>C (p.Gln927His) c.2196G>C (p.Gln732His) c.2907G>C (p.Gln969His) c.2133G>C (p.Gln711His) c.2100G>C (p.Gln700His) n.3134G>C c.2313G>C (p.Gln771His) n.3128G>C | ClinVar dbSNP |
X | g.53243410C>T | CA10419889 | IQSEC2 | c.2970G>A (p.Gln990=) c.763G>A c.272G>A c.101G>A c.2811G>A (p.Gln937=) n.562G>A c.2781G>A (p.Gln927=) c.2196G>A (p.Gln732=) c.2907G>A (p.Gln969=) c.2133G>A (p.Gln711=) c.2100G>A (p.Gln700=) n.3134G>A c.2313G>A (p.Gln771=) n.3128G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53243411del | CA2695234295 | IQSEC2 | c.2969del (p.Gln990ArgfsTer21) c.762del c.271del c.100del c.2810del (p.Gln937ArgfsTer21) n.561del c.2780del (p.Gln927ArgfsTer21) c.2195del (p.Gln732ArgfsTer21) c.2906del (p.Gln969ArgfsTer21) c.2132del (p.Gln711ArgfsTer21) c.2099del (p.Gln700ArgfsTer21) n.3133del c.2312del (p.Gln771ArgfsTer21) n.3127del | |
X | g.53243411T>A | CA413153931 | IQSEC2 | c.2969A>T (p.Gln990Leu) c.762A>T c.271A>T c.100A>T c.2810A>T (p.Gln937Leu) n.561A>T c.2780A>T (p.Gln927Leu) c.2195A>T (p.Gln732Leu) c.2906A>T (p.Gln969Leu) c.2132A>T (p.Gln711Leu) c.2099A>T (p.Gln700Leu) n.3133A>T c.2312A>T (p.Gln771Leu) n.3127A>T | gnomAD v4 |
X | g.53243411T>C | CA413153948 | IQSEC2 | c.2969A>G (p.Gln990Arg) c.762A>G c.271A>G c.100A>G c.2810A>G (p.Gln937Arg) n.561A>G c.2780A>G (p.Gln927Arg) c.2195A>G (p.Gln732Arg) c.2906A>G (p.Gln969Arg) c.2132A>G (p.Gln711Arg) c.2099A>G (p.Gln700Arg) n.3133A>G c.2312A>G (p.Gln771Arg) n.3127A>G | gnomAD v4 |
X | g.53243411T>G | CA413153954 | IQSEC2 | c.2969A>C (p.Gln990Pro) c.762A>C c.271A>C c.100A>C c.2810A>C (p.Gln937Pro) n.561A>C c.2780A>C (p.Gln927Pro) c.2195A>C (p.Gln732Pro) c.2906A>C (p.Gln969Pro) c.2132A>C (p.Gln711Pro) c.2099A>C (p.Gln700Pro) n.3133A>C c.2312A>C (p.Gln771Pro) n.3127A>C | |
X | g.53243412G>A | CA413153960 | IQSEC2 | c.2968C>T (p.Gln990Ter) c.761C>T c.270C>T c.99C>T c.2809C>T (p.Gln937Ter) n.560C>T c.2779C>T (p.Gln927Ter) c.2194C>T (p.Gln732Ter) c.2905C>T (p.Gln969Ter) c.2131C>T (p.Gln711Ter) c.2098C>T (p.Gln700Ter) n.3132C>T c.2311C>T (p.Gln771Ter) n.3126C>T | gnomAD v4 |
X | g.53243412G>C | CA413153966 | IQSEC2 | c.2968C>G (p.Gln990Glu) c.761C>G c.270C>G c.99C>G c.2809C>G (p.Gln937Glu) n.560C>G c.2779C>G (p.Gln927Glu) c.2194C>G (p.Gln732Glu) c.2905C>G (p.Gln969Glu) c.2131C>G (p.Gln711Glu) c.2098C>G (p.Gln700Glu) n.3132C>G c.2311C>G (p.Gln771Glu) n.3126C>G | |
X | g.53243412G>T | CA413153969 | IQSEC2 | c.2968C>A (p.Gln990Lys) c.761C>A c.270C>A c.99C>A c.2809C>A (p.Gln937Lys) n.560C>A c.2779C>A (p.Gln927Lys) c.2194C>A (p.Gln732Lys) c.2905C>A (p.Gln969Lys) c.2131C>A (p.Gln711Lys) c.2098C>A (p.Gln700Lys) n.3132C>A c.2311C>A (p.Gln771Lys) n.3126C>A | gnomAD v4 |
X | g.53243413G>A | CA516426396 | IQSEC2 | c.2967C>T (p.Ile989=) c.760C>T c.269C>T c.98C>T c.2808C>T (p.Ile936=) n.559C>T c.2778C>T (p.Ile926=) c.2193C>T (p.Ile731=) c.2904C>T (p.Ile968=) c.2130C>T (p.Ile710=) c.2097C>T (p.Ile699=) n.3131C>T c.2310C>T (p.Ile770=) n.3125C>T | |
X | g.53243413G>C | CA413153974 | IQSEC2 | c.2967C>G (p.Ile989Met) c.760C>G c.269C>G c.98C>G c.2808C>G (p.Ile936Met) n.559C>G c.2778C>G (p.Ile926Met) c.2193C>G (p.Ile731Met) c.2904C>G (p.Ile968Met) c.2130C>G (p.Ile710Met) c.2097C>G (p.Ile699Met) n.3131C>G c.2310C>G (p.Ile770Met) n.3125C>G | |
X | g.53243413G>T | CA516426397 | IQSEC2 | c.2967C>A (p.Ile989=) c.760C>A c.269C>A c.98C>A c.2808C>A (p.Ile936=) n.559C>A c.2778C>A (p.Ile926=) c.2193C>A (p.Ile731=) c.2904C>A (p.Ile968=) c.2130C>A (p.Ile710=) c.2097C>A (p.Ile699=) n.3131C>A c.2310C>A (p.Ile770=) n.3125C>A | gnomAD v4 |
X | g.53243414A>C | CA413153983 | IQSEC2 | c.2966T>G (p.Ile989Ser) c.759T>G c.268T>G c.97T>G c.2807T>G (p.Ile936Ser) n.558T>G c.2777T>G (p.Ile926Ser) c.2192T>G (p.Ile731Ser) c.2903T>G (p.Ile968Ser) c.2129T>G (p.Ile710Ser) c.2096T>G (p.Ile699Ser) n.3130T>G c.2309T>G (p.Ile770Ser) n.3124T>G | |
X | g.53243414A>G | CA413153978 | IQSEC2 | c.2966T>C (p.Ile989Thr) c.759T>C c.268T>C c.97T>C c.2807T>C (p.Ile936Thr) n.558T>C c.2777T>C (p.Ile926Thr) c.2192T>C (p.Ile731Thr) c.2903T>C (p.Ile968Thr) c.2129T>C (p.Ile710Thr) c.2096T>C (p.Ile699Thr) n.3130T>C c.2309T>C (p.Ile770Thr) n.3124T>C | |
X | g.53243414A>T | CA413153982 | IQSEC2 | c.2966T>A (p.Ile989Asn) c.759T>A c.268T>A c.97T>A c.2807T>A (p.Ile936Asn) n.558T>A c.2777T>A (p.Ile926Asn) c.2192T>A (p.Ile731Asn) c.2903T>A (p.Ile968Asn) c.2129T>A (p.Ile710Asn) c.2096T>A (p.Ile699Asn) n.3130T>A c.2309T>A (p.Ile770Asn) n.3124T>A | |
X | g.53243415T>A | CA413153984 | IQSEC2 | c.2965A>T (p.Ile989Phe) c.758A>T c.267A>T c.96A>T c.2806A>T (p.Ile936Phe) n.557A>T c.2776A>T (p.Ile926Phe) c.2191A>T (p.Ile731Phe) c.2902A>T (p.Ile968Phe) c.2128A>T (p.Ile710Phe) c.2095A>T (p.Ile699Phe) n.3129A>T c.2308A>T (p.Ile770Phe) n.3123A>T | |
X | g.53243415T>C | CA413153986 | IQSEC2 | c.2965A>G (p.Ile989Val) c.758A>G c.267A>G c.96A>G c.2806A>G (p.Ile936Val) n.557A>G c.2776A>G (p.Ile926Val) c.2191A>G (p.Ile731Val) c.2902A>G (p.Ile968Val) c.2128A>G (p.Ile710Val) c.2095A>G (p.Ile699Val) n.3129A>G c.2308A>G (p.Ile770Val) n.3123A>G | |
X | g.53243415T>G | CA413153988 | IQSEC2 | c.2965A>C (p.Ile989Leu) c.758A>C c.267A>C c.96A>C c.2806A>C (p.Ile936Leu) n.557A>C c.2776A>C (p.Ile926Leu) c.2191A>C (p.Ile731Leu) c.2902A>C (p.Ile968Leu) c.2128A>C (p.Ile710Leu) c.2095A>C (p.Ile699Leu) n.3129A>C c.2308A>C (p.Ile770Leu) n.3123A>C | gnomAD v4 |
X | g.53243416G>A | CA516426400 | IQSEC2 | c.2964C>T (p.Arg988=) c.757C>T c.266C>T c.95C>T c.2805C>T (p.Arg935=) n.556C>T c.2775C>T (p.Arg925=) c.2190C>T (p.Arg730=) c.2901C>T (p.Arg967=) c.2127C>T (p.Arg709=) c.2094C>T (p.Arg698=) n.3128C>T c.2307C>T (p.Arg769=) n.3122C>T | |
X | g.53243416G>C | CA516426401 | IQSEC2 | c.2964C>G (p.Arg988=) c.757C>G c.266C>G c.95C>G c.2805C>G (p.Arg935=) n.556C>G c.2775C>G (p.Arg925=) c.2190C>G (p.Arg730=) c.2901C>G (p.Arg967=) c.2127C>G (p.Arg709=) c.2094C>G (p.Arg698=) n.3128C>G c.2307C>G (p.Arg769=) n.3122C>G | |
X | g.53243416G>T | CA516426403 | IQSEC2 | c.2964C>A (p.Arg988=) c.757C>A c.266C>A c.95C>A c.2805C>A (p.Arg935=) n.556C>A c.2775C>A (p.Arg925=) c.2190C>A (p.Arg730=) c.2901C>A (p.Arg967=) c.2127C>A (p.Arg709=) c.2094C>A (p.Arg698=) n.3128C>A c.2307C>A (p.Arg769=) n.3122C>A | gnomAD v4 |
X | g.53243417C>A | CA413153992 | IQSEC2 | c.2963G>T (p.Arg988Leu) c.756G>T c.265G>T c.94G>T c.2804G>T (p.Arg935Leu) n.555G>T c.2774G>T (p.Arg925Leu) c.2189G>T (p.Arg730Leu) c.2900G>T (p.Arg967Leu) c.2126G>T (p.Arg709Leu) c.2093G>T (p.Arg698Leu) n.3127G>T c.2306G>T (p.Arg769Leu) n.3121G>T | COSMIC COSMIC COSMIC |
X | g.53243417C= | CA2429773371 | IQSEC2 | c.2963G= (p.Arg988=) c.756G= c.265G= c.94G= c.2804G= (p.Arg935=) n.555G= c.2774G= (p.Arg925=) c.2189G= (p.Arg730=) c.2900G= (p.Arg967=) c.2126G= (p.Arg709=) c.2093G= (p.Arg698=) n.3127G= c.2306G= (p.Arg769=) n.3121G= | |
X | g.53243417C>G | CA413153996 | IQSEC2 | c.2963G>C (p.Arg988Pro) c.756G>C c.265G>C c.94G>C c.2804G>C (p.Arg935Pro) n.555G>C c.2774G>C (p.Arg925Pro) c.2189G>C (p.Arg730Pro) c.2900G>C (p.Arg967Pro) c.2126G>C (p.Arg709Pro) c.2093G>C (p.Arg698Pro) n.3127G>C c.2306G>C (p.Arg769Pro) n.3121G>C | |
X | g.53243417C>T | CA413154002 | IQSEC2 | c.2963G>A (p.Arg988His) c.756G>A c.265G>A c.94G>A c.2804G>A (p.Arg935His) n.555G>A c.2774G>A (p.Arg925His) c.2189G>A (p.Arg730His) c.2900G>A (p.Arg967His) c.2126G>A (p.Arg709His) c.2093G>A (p.Arg698His) n.3127G>A c.2306G>A (p.Arg769His) n.3121G>A | dbSNP gnomAD v4 |
X | g.53243418G>A | CA413154005 | IQSEC2 | c.2962C>T (p.Arg988Cys) c.755C>T c.264C>T c.93C>T c.2803C>T (p.Arg935Cys) n.554C>T c.2773C>T (p.Arg925Cys) c.2188C>T (p.Arg730Cys) c.2899C>T (p.Arg967Cys) c.2125C>T (p.Arg709Cys) c.2092C>T (p.Arg698Cys) n.3126C>T c.2305C>T (p.Arg769Cys) n.3120C>T | ClinVar gnomAD v4 |
X | g.53243418G>C | CA413154009 | IQSEC2 | c.2962C>G (p.Arg988Gly) c.755C>G c.264C>G c.93C>G c.2803C>G (p.Arg935Gly) n.554C>G c.2773C>G (p.Arg925Gly) c.2188C>G (p.Arg730Gly) c.2899C>G (p.Arg967Gly) c.2125C>G (p.Arg709Gly) c.2092C>G (p.Arg698Gly) n.3126C>G c.2305C>G (p.Arg769Gly) n.3120C>G | dbSNP gnomAD v2 |
X | g.53243418G= | CA2429773372 | IQSEC2 | c.2962C= (p.Arg988=) c.755C= c.264C= c.93C= c.2803C= (p.Arg935=) n.554C= c.2773C= (p.Arg925=) c.2188C= (p.Arg730=) c.2899C= (p.Arg967=) c.2125C= (p.Arg709=) c.2092C= (p.Arg698=) n.3126C= c.2305C= (p.Arg769=) n.3120C= | |
X | g.53243418G>T | CA413154013 | IQSEC2 | c.2962C>A (p.Arg988Ser) c.755C>A c.264C>A c.93C>A c.2803C>A (p.Arg935Ser) n.554C>A c.2773C>A (p.Arg925Ser) c.2188C>A (p.Arg730Ser) c.2899C>A (p.Arg967Ser) c.2125C>A (p.Arg709Ser) c.2092C>A (p.Arg698Ser) n.3126C>A c.2305C>A (p.Arg769Ser) n.3120C>A | gnomAD v4 |
X | g.53243419C>A | CA413154020 | IQSEC2 | c.2961G>T (p.Gln987His) c.754G>T c.263G>T c.92G>T c.2802G>T (p.Gln934His) n.553G>T c.2772G>T (p.Gln924His) c.2187G>T (p.Gln729His) c.2898G>T (p.Gln966His) c.2124G>T (p.Gln708His) c.2091G>T (p.Gln697His) n.3125G>T c.2304G>T (p.Gln768His) n.3119G>T | gnomAD v4 |
X | g.53243419C>G | CA413154022 | IQSEC2 | c.2961G>C (p.Gln987His) c.754G>C c.263G>C c.92G>C c.2802G>C (p.Gln934His) n.553G>C c.2772G>C (p.Gln924His) c.2187G>C (p.Gln729His) c.2898G>C (p.Gln966His) c.2124G>C (p.Gln708His) c.2091G>C (p.Gln697His) n.3125G>C c.2304G>C (p.Gln768His) n.3119G>C | |
X | g.53243419C>T | CA516426407 | IQSEC2 | c.2961G>A (p.Gln987=) c.754G>A c.263G>A c.92G>A c.2802G>A (p.Gln934=) n.553G>A c.2772G>A (p.Gln924=) c.2187G>A (p.Gln729=) c.2898G>A (p.Gln966=) c.2124G>A (p.Gln708=) c.2091G>A (p.Gln697=) n.3125G>A c.2304G>A (p.Gln768=) n.3119G>A | |
X | g.53243420T>A | CA413154030 | IQSEC2 | c.2960A>T (p.Gln987Leu) c.753A>T c.262A>T c.91A>T c.2801A>T (p.Gln934Leu) n.552A>T c.2771A>T (p.Gln924Leu) c.2186A>T (p.Gln729Leu) c.2897A>T (p.Gln966Leu) c.2123A>T (p.Gln708Leu) c.2090A>T (p.Gln697Leu) n.3124A>T c.2303A>T (p.Gln768Leu) n.3118A>T | gnomAD v4 |
X | g.53243420T>C | CA413154024 | IQSEC2 | c.2960A>G (p.Gln987Arg) c.753A>G c.262A>G c.91A>G c.2801A>G (p.Gln934Arg) n.552A>G c.2771A>G (p.Gln924Arg) c.2186A>G (p.Gln729Arg) c.2897A>G (p.Gln966Arg) c.2123A>G (p.Gln708Arg) c.2090A>G (p.Gln697Arg) n.3124A>G c.2303A>G (p.Gln768Arg) n.3118A>G | |
X | g.53243420T>G | CA413154027 | IQSEC2 | c.2960A>C (p.Gln987Pro) c.753A>C c.262A>C c.91A>C c.2801A>C (p.Gln934Pro) n.552A>C c.2771A>C (p.Gln924Pro) c.2186A>C (p.Gln729Pro) c.2897A>C (p.Gln966Pro) c.2123A>C (p.Gln708Pro) c.2090A>C (p.Gln697Pro) n.3124A>C c.2303A>C (p.Gln768Pro) n.3118A>C | |
X | g.53243421G>A | CA413154031 | IQSEC2 | c.2959C>T (p.Gln987Ter) c.752C>T c.261C>T c.90C>T c.2800C>T (p.Gln934Ter) n.551C>T c.2770C>T (p.Gln924Ter) c.2185C>T (p.Gln729Ter) c.2896C>T (p.Gln966Ter) c.2122C>T (p.Gln708Ter) c.2089C>T (p.Gln697Ter) n.3123C>T c.2302C>T (p.Gln768Ter) n.3117C>T | |
X | g.53243421G>C | CA413154032 | IQSEC2 | c.2959C>G (p.Gln987Glu) c.752C>G c.261C>G c.90C>G c.2800C>G (p.Gln934Glu) n.551C>G c.2770C>G (p.Gln924Glu) c.2185C>G (p.Gln729Glu) c.2896C>G (p.Gln966Glu) c.2122C>G (p.Gln708Glu) c.2089C>G (p.Gln697Glu) n.3123C>G c.2302C>G (p.Gln768Glu) n.3117C>G | |
X | g.53243421G>T | CA413154035 | IQSEC2 | c.2959C>A (p.Gln987Lys) c.752C>A c.261C>A c.90C>A c.2800C>A (p.Gln934Lys) n.551C>A c.2770C>A (p.Gln924Lys) c.2185C>A (p.Gln729Lys) c.2896C>A (p.Gln966Lys) c.2122C>A (p.Gln708Lys) c.2089C>A (p.Gln697Lys) n.3123C>A c.2302C>A (p.Gln768Lys) n.3117C>A | gnomAD v4 |
X | g.53243422G>A | CA516426412 | IQSEC2 | c.2958C>T (p.Tyr986=) c.751C>T c.260C>T c.89C>T c.2799C>T (p.Tyr933=) n.550C>T c.2769C>T (p.Tyr923=) c.2184C>T (p.Tyr728=) c.2895C>T (p.Tyr965=) c.2121C>T (p.Tyr707=) c.2088C>T (p.Tyr696=) n.3122C>T c.2301C>T (p.Tyr767=) n.3116C>T | |
X | g.53243422G>C | CA413154040 | IQSEC2 | c.2958C>G (p.Tyr986Ter) c.751C>G c.260C>G c.89C>G c.2799C>G (p.Tyr933Ter) n.550C>G c.2769C>G (p.Tyr923Ter) c.2184C>G (p.Tyr728Ter) c.2895C>G (p.Tyr965Ter) c.2121C>G (p.Tyr707Ter) c.2088C>G (p.Tyr696Ter) n.3122C>G c.2301C>G (p.Tyr767Ter) n.3116C>G | |
X | g.53243422G>T | CA413154041 | IQSEC2 | c.2958C>A (p.Tyr986Ter) c.751C>A c.260C>A c.89C>A c.2799C>A (p.Tyr933Ter) n.550C>A c.2769C>A (p.Tyr923Ter) c.2184C>A (p.Tyr728Ter) c.2895C>A (p.Tyr965Ter) c.2121C>A (p.Tyr707Ter) c.2088C>A (p.Tyr696Ter) n.3122C>A c.2301C>A (p.Tyr767Ter) n.3116C>A | gnomAD v4 |
X | g.53243423T>A | CA413154042 | IQSEC2 | c.2957A>T (p.Tyr986Phe) c.750A>T c.259A>T c.88A>T c.2798A>T (p.Tyr933Phe) n.549A>T c.2768A>T (p.Tyr923Phe) c.2183A>T (p.Tyr728Phe) c.2894A>T (p.Tyr965Phe) c.2120A>T (p.Tyr707Phe) c.2087A>T (p.Tyr696Phe) n.3121A>T c.2300A>T (p.Tyr767Phe) n.3115A>T | |
X | g.53243423T>C | CA413154045 | IQSEC2 | c.2957A>G (p.Tyr986Cys) c.750A>G c.259A>G c.88A>G c.2798A>G (p.Tyr933Cys) n.549A>G c.2768A>G (p.Tyr923Cys) c.2183A>G (p.Tyr728Cys) c.2894A>G (p.Tyr965Cys) c.2120A>G (p.Tyr707Cys) c.2087A>G (p.Tyr696Cys) n.3121A>G c.2300A>G (p.Tyr767Cys) n.3115A>G | |
X | g.53243423T>G | CA413154049 | IQSEC2 | c.2957A>C (p.Tyr986Ser) c.750A>C c.259A>C c.88A>C c.2798A>C (p.Tyr933Ser) n.549A>C c.2768A>C (p.Tyr923Ser) c.2183A>C (p.Tyr728Ser) c.2894A>C (p.Tyr965Ser) c.2120A>C (p.Tyr707Ser) c.2087A>C (p.Tyr696Ser) n.3121A>C c.2300A>C (p.Tyr767Ser) n.3115A>C | |
X | g.53243424A>C | CA413154055 | IQSEC2 | c.2956T>G (p.Tyr986Asp) c.749T>G c.258T>G c.87T>G c.2797T>G (p.Tyr933Asp) n.548T>G c.2767T>G (p.Tyr923Asp) c.2182T>G (p.Tyr728Asp) c.2893T>G (p.Tyr965Asp) c.2119T>G (p.Tyr707Asp) c.2086T>G (p.Tyr696Asp) n.3120T>G c.2299T>G (p.Tyr767Asp) n.3114T>G | |
X | g.53243424A>G | CA413154059 | IQSEC2 | c.2956T>C (p.Tyr986His) c.749T>C c.258T>C c.87T>C c.2797T>C (p.Tyr933His) n.548T>C c.2767T>C (p.Tyr923His) c.2182T>C (p.Tyr728His) c.2893T>C (p.Tyr965His) c.2119T>C (p.Tyr707His) c.2086T>C (p.Tyr696His) n.3120T>C c.2299T>C (p.Tyr767His) n.3114T>C | |
X | g.53243424A>T | CA413154060 | IQSEC2 | c.2956T>A (p.Tyr986Asn) c.749T>A c.258T>A c.87T>A c.2797T>A (p.Tyr933Asn) n.548T>A c.2767T>A (p.Tyr923Asn) c.2182T>A (p.Tyr728Asn) c.2893T>A (p.Tyr965Asn) c.2119T>A (p.Tyr707Asn) c.2086T>A (p.Tyr696Asn) n.3120T>A c.2299T>A (p.Tyr767Asn) n.3114T>A | |
X | g.53243425G>A | CA516426418 | IQSEC2 | c.2955C>T (p.Ile985=) c.748C>T c.257C>T c.86C>T c.2796C>T (p.Ile932=) n.547C>T c.2766C>T (p.Ile922=) c.2181C>T (p.Ile727=) c.2892C>T (p.Ile964=) c.2118C>T (p.Ile706=) c.2085C>T (p.Ile695=) n.3119C>T c.2298C>T (p.Ile766=) n.3113C>T | |
X | g.53243425G>C | CA413154061 | IQSEC2 | c.2955C>G (p.Ile985Met) c.748C>G c.257C>G c.86C>G c.2796C>G (p.Ile932Met) n.547C>G c.2766C>G (p.Ile922Met) c.2181C>G (p.Ile727Met) c.2892C>G (p.Ile964Met) c.2118C>G (p.Ile706Met) c.2085C>G (p.Ile695Met) n.3119C>G c.2298C>G (p.Ile766Met) n.3113C>G | |
X | g.53243425G>T | CA516426419 | IQSEC2 | c.2955C>A (p.Ile985=) c.748C>A c.257C>A c.86C>A c.2796C>A (p.Ile932=) n.547C>A c.2766C>A (p.Ile922=) c.2181C>A (p.Ile727=) c.2892C>A (p.Ile964=) c.2118C>A (p.Ile706=) c.2085C>A (p.Ile695=) n.3119C>A c.2298C>A (p.Ile766=) n.3113C>A | gnomAD v4 |
X | g.53243426A>C | CA413154066 | IQSEC2 | c.2954T>G (p.Ile985Ser) c.747T>G c.256T>G c.85T>G c.2795T>G (p.Ile932Ser) n.546T>G c.2765T>G (p.Ile922Ser) c.2180T>G (p.Ile727Ser) c.2891T>G (p.Ile964Ser) c.2117T>G (p.Ile706Ser) c.2084T>G (p.Ile695Ser) n.3118T>G c.2297T>G (p.Ile766Ser) n.3112T>G | |
X | g.53243426A>G | CA413154076 | IQSEC2 | c.2954T>C (p.Ile985Thr) c.747T>C c.256T>C c.85T>C c.2795T>C (p.Ile932Thr) n.546T>C c.2765T>C (p.Ile922Thr) c.2180T>C (p.Ile727Thr) c.2891T>C (p.Ile964Thr) c.2117T>C (p.Ile706Thr) c.2084T>C (p.Ile695Thr) n.3118T>C c.2297T>C (p.Ile766Thr) n.3112T>C | |
X | g.53243426A>T | CA413154069 | IQSEC2 | c.2954T>A (p.Ile985Asn) c.747T>A c.256T>A c.85T>A c.2795T>A (p.Ile932Asn) n.546T>A c.2765T>A (p.Ile922Asn) c.2180T>A (p.Ile727Asn) c.2891T>A (p.Ile964Asn) c.2117T>A (p.Ile706Asn) c.2084T>A (p.Ile695Asn) n.3118T>A c.2297T>A (p.Ile766Asn) n.3112T>A | |
X | g.53243427T>A | CA413154082 | IQSEC2 | c.2953A>T (p.Ile985Phe) c.746A>T c.255A>T c.84A>T c.2794A>T (p.Ile932Phe) n.545A>T c.2764A>T (p.Ile922Phe) c.2179A>T (p.Ile727Phe) c.2890A>T (p.Ile964Phe) c.2116A>T (p.Ile706Phe) c.2083A>T (p.Ile695Phe) n.3117A>T c.2296A>T (p.Ile766Phe) n.3111A>T | |
X | g.53243427T>C | CA413154088 | IQSEC2 | c.2953A>G (p.Ile985Val) c.746A>G c.255A>G c.84A>G c.2794A>G (p.Ile932Val) n.545A>G c.2764A>G (p.Ile922Val) c.2179A>G (p.Ile727Val) c.2890A>G (p.Ile964Val) c.2116A>G (p.Ile706Val) c.2083A>G (p.Ile695Val) n.3117A>G c.2296A>G (p.Ile766Val) n.3111A>G | ClinVar |
X | g.53243427T>G | CA413154087 | IQSEC2 | c.2953A>C (p.Ile985Leu) c.746A>C c.255A>C c.84A>C c.2794A>C (p.Ile932Leu) n.545A>C c.2764A>C (p.Ile922Leu) c.2179A>C (p.Ile727Leu) c.2890A>C (p.Ile964Leu) c.2116A>C (p.Ile706Leu) c.2083A>C (p.Ile695Leu) n.3117A>C c.2296A>C (p.Ile766Leu) n.3111A>C | |
X | g.53243428G>A | CA516426424 | IQSEC2 | c.2952C>T (p.Gly984=) c.745C>T c.254C>T c.83C>T c.2793C>T (p.Gly931=) n.544C>T c.2763C>T (p.Gly921=) c.2178C>T (p.Gly726=) c.2889C>T (p.Gly963=) c.2115C>T (p.Gly705=) c.2082C>T (p.Gly694=) n.3116C>T c.2295C>T (p.Gly765=) n.3110C>T | |
X | g.53243428G>C | CA516426425 | IQSEC2 | c.2952C>G (p.Gly984=) c.745C>G c.254C>G c.83C>G c.2793C>G (p.Gly931=) n.544C>G c.2763C>G (p.Gly921=) c.2178C>G (p.Gly726=) c.2889C>G (p.Gly963=) c.2115C>G (p.Gly705=) c.2082C>G (p.Gly694=) n.3116C>G c.2295C>G (p.Gly765=) n.3110C>G | |
X | g.53243428G>T | CA516426428 | IQSEC2 | c.2952C>A (p.Gly984=) c.745C>A c.254C>A c.83C>A c.2793C>A (p.Gly931=) n.544C>A c.2763C>A (p.Gly921=) c.2178C>A (p.Gly726=) c.2889C>A (p.Gly963=) c.2115C>A (p.Gly705=) c.2082C>A (p.Gly694=) n.3116C>A c.2295C>A (p.Gly765=) n.3110C>A | gnomAD v4 |
X | g.53243429C>A | CA413154091 | IQSEC2 | c.2951G>T (p.Gly984Val) c.744G>T c.253G>T c.82G>T c.2792G>T (p.Gly931Val) n.543G>T c.2762G>T (p.Gly921Val) c.2177G>T (p.Gly726Val) c.2888G>T (p.Gly963Val) c.2114G>T (p.Gly705Val) c.2081G>T (p.Gly694Val) n.3115G>T c.2294G>T (p.Gly765Val) n.3109G>T | gnomAD v4 |
X | g.53243429C= | CA2429773373 | IQSEC2 | c.2951G= (p.Gly984=) c.744G= c.253G= c.82G= c.2792G= (p.Gly931=) n.543G= c.2762G= (p.Gly921=) c.2177G= (p.Gly726=) c.2888G= (p.Gly963=) c.2114G= (p.Gly705=) c.2081G= (p.Gly694=) n.3115G= c.2294G= (p.Gly765=) n.3109G= | |
X | g.53243429C>G | CA413154101 | IQSEC2 | c.2951G>C (p.Gly984Ala) c.744G>C c.253G>C c.82G>C c.2792G>C (p.Gly931Ala) n.543G>C c.2762G>C (p.Gly921Ala) c.2177G>C (p.Gly726Ala) c.2888G>C (p.Gly963Ala) c.2114G>C (p.Gly705Ala) c.2081G>C (p.Gly694Ala) n.3115G>C c.2294G>C (p.Gly765Ala) n.3109G>C | |
X | g.53243429C>T | CA413154097 | IQSEC2 | c.2951G>A (p.Gly984Asp) c.744G>A c.253G>A c.82G>A c.2792G>A (p.Gly931Asp) n.543G>A c.2762G>A (p.Gly921Asp) c.2177G>A (p.Gly726Asp) c.2888G>A (p.Gly963Asp) c.2114G>A (p.Gly705Asp) c.2081G>A (p.Gly694Asp) n.3115G>A c.2294G>A (p.Gly765Asp) n.3109G>A | dbSNP gnomAD v4 |
X | g.53243430C>A | CA413154106 | IQSEC2 | c.2950G>T (p.Gly984Cys) c.743G>T c.252G>T c.81G>T c.2791G>T (p.Gly931Cys) n.542G>T c.2761G>T (p.Gly921Cys) c.2176G>T (p.Gly726Cys) c.2887G>T (p.Gly963Cys) c.2113G>T (p.Gly705Cys) c.2080G>T (p.Gly694Cys) n.3114G>T c.2293G>T (p.Gly765Cys) n.3108G>T | gnomAD v4 |
X | g.53243430C>G | CA413154107 | IQSEC2 | c.2950G>C (p.Gly984Arg) c.743G>C c.252G>C c.81G>C c.2791G>C (p.Gly931Arg) n.542G>C c.2761G>C (p.Gly921Arg) c.2176G>C (p.Gly726Arg) c.2887G>C (p.Gly963Arg) c.2113G>C (p.Gly705Arg) c.2080G>C (p.Gly694Arg) n.3114G>C c.2293G>C (p.Gly765Arg) n.3108G>C | |
X | g.53243430C>T | CA413154108 | IQSEC2 | c.2950G>A (p.Gly984Ser) c.743G>A c.252G>A c.81G>A c.2791G>A (p.Gly931Ser) n.542G>A c.2761G>A (p.Gly921Ser) c.2176G>A (p.Gly726Ser) c.2887G>A (p.Gly963Ser) c.2113G>A (p.Gly705Ser) c.2080G>A (p.Gly694Ser) n.3114G>A c.2293G>A (p.Gly765Ser) n.3108G>A | |
X | g.53243431C>A | CA516426434 | IQSEC2 | c.2949G>T (p.Val983=) c.742G>T c.251G>T c.80G>T c.2790G>T (p.Val930=) n.541G>T c.2760G>T (p.Val920=) c.2175G>T (p.Val725=) c.2886G>T (p.Val962=) c.2112G>T (p.Val704=) c.2079G>T (p.Val693=) n.3113G>T c.2292G>T (p.Val764=) n.3107G>T | gnomAD v4 |
X | g.53243431C>G | CA516426436 | IQSEC2 | c.2949G>C (p.Val983=) c.742G>C c.251G>C c.80G>C c.2790G>C (p.Val930=) n.541G>C c.2760G>C (p.Val920=) c.2175G>C (p.Val725=) c.2886G>C (p.Val962=) c.2112G>C (p.Val704=) c.2079G>C (p.Val693=) n.3113G>C c.2292G>C (p.Val764=) n.3107G>C | gnomAD v4 |
X | g.53243431C>T | CA516426437 | IQSEC2 | c.2949G>A (p.Val983=) c.742G>A c.251G>A c.80G>A c.2790G>A (p.Val930=) n.541G>A c.2760G>A (p.Val920=) c.2175G>A (p.Val725=) c.2886G>A (p.Val962=) c.2112G>A (p.Val704=) c.2079G>A (p.Val693=) n.3113G>A c.2292G>A (p.Val764=) n.3107G>A | gnomAD v4 |
X | g.53243432A>C | CA413154111 | IQSEC2 | c.2948T>G (p.Val983Gly) c.741T>G c.250T>G c.79T>G c.2789T>G (p.Val930Gly) n.540T>G c.2759T>G (p.Val920Gly) c.2174T>G (p.Val725Gly) c.2885T>G (p.Val962Gly) c.2111T>G (p.Val704Gly) c.2078T>G (p.Val693Gly) n.3112T>G c.2291T>G (p.Val764Gly) n.3106T>G | |
X | g.53243432A>G | CA413154118 | IQSEC2 | c.2948T>C (p.Val983Ala) c.741T>C c.250T>C c.79T>C c.2789T>C (p.Val930Ala) n.540T>C c.2759T>C (p.Val920Ala) c.2174T>C (p.Val725Ala) c.2885T>C (p.Val962Ala) c.2111T>C (p.Val704Ala) c.2078T>C (p.Val693Ala) n.3112T>C c.2291T>C (p.Val764Ala) n.3106T>C | |
X | g.53243432A>T | CA413154122 | IQSEC2 | c.2948T>A (p.Val983Glu) c.741T>A c.250T>A c.79T>A c.2789T>A (p.Val930Glu) n.540T>A c.2759T>A (p.Val920Glu) c.2174T>A (p.Val725Glu) c.2885T>A (p.Val962Glu) c.2111T>A (p.Val704Glu) c.2078T>A (p.Val693Glu) n.3112T>A c.2291T>A (p.Val764Glu) n.3106T>A | gnomAD v4 |
X | g.53243433C>A | CA413154123 | IQSEC2 | c.2947G>T (p.Val983Leu) c.740G>T c.249G>T c.78G>T c.2788G>T (p.Val930Leu) n.539G>T c.2758G>T (p.Val920Leu) c.2173G>T (p.Val725Leu) c.2884G>T (p.Val962Leu) c.2110G>T (p.Val704Leu) c.2077G>T (p.Val693Leu) n.3111G>T c.2290G>T (p.Val764Leu) n.3105G>T | |
X | g.53243433C>G | CA413154124 | IQSEC2 | c.2947G>C (p.Val983Leu) c.740G>C c.249G>C c.78G>C c.2788G>C (p.Val930Leu) n.539G>C c.2758G>C (p.Val920Leu) c.2173G>C (p.Val725Leu) c.2884G>C (p.Val962Leu) c.2110G>C (p.Val704Leu) c.2077G>C (p.Val693Leu) n.3111G>C c.2290G>C (p.Val764Leu) n.3105G>C | |
X | g.53243433C>T | CA413154127 | IQSEC2 | c.2947G>A (p.Val983Met) c.740G>A c.249G>A c.78G>A c.2788G>A (p.Val930Met) n.539G>A c.2758G>A (p.Val920Met) c.2173G>A (p.Val725Met) c.2884G>A (p.Val962Met) c.2110G>A (p.Val704Met) c.2077G>A (p.Val693Met) n.3111G>A c.2290G>A (p.Val764Met) n.3105G>A | gnomAD v4 |
X | g.53243434C>A | CA516426447 | IQSEC2 | c.2946G>T (p.Leu982=) c.739G>T c.248G>T c.77G>T c.2787G>T (p.Leu929=) n.538G>T c.2757G>T (p.Leu919=) c.2172G>T (p.Leu724=) c.2883G>T (p.Leu961=) c.2109G>T (p.Leu703=) c.2076G>T (p.Leu692=) n.3110G>T c.2289G>T (p.Leu763=) n.3104G>T | gnomAD v4 |
X | g.53243434C>G | CA516426448 | IQSEC2 | c.2946G>C (p.Leu982=) c.739G>C c.248G>C c.77G>C c.2787G>C (p.Leu929=) n.538G>C c.2757G>C (p.Leu919=) c.2172G>C (p.Leu724=) c.2883G>C (p.Leu961=) c.2109G>C (p.Leu703=) c.2076G>C (p.Leu692=) n.3110G>C c.2289G>C (p.Leu763=) n.3104G>C | |
X | g.53243434C>T | CA516426446 | IQSEC2 | c.2946G>A (p.Leu982=) c.739G>A c.248G>A c.77G>A c.2787G>A (p.Leu929=) n.538G>A c.2757G>A (p.Leu919=) c.2172G>A (p.Leu724=) c.2883G>A (p.Leu961=) c.2109G>A (p.Leu703=) c.2076G>A (p.Leu692=) n.3110G>A c.2289G>A (p.Leu763=) n.3104G>A | gnomAD v4 |
X | g.53243434_53243437delinsCAGG | CA2429773374 | IQSEC2 | c.2943_2946delinsCCTG (p.Leu981=) c.736_739delinsCCTG c.245_248delinsCCTG c.74_77delinsCCTG c.2784_2787delinsCCTG (p.Leu928=) n.535_538delinsCCTG c.2754_2757delinsCCTG (p.Leu918=) c.2169_2172delinsCCTG (p.Leu723=) c.2880_2883delinsCCTG (p.Leu960=) c.2106_2109delinsCCTG (p.Leu702=) c.2073_2076delinsCCTG (p.Leu691=) n.3107_3110delinsCCTG c.2286_2289delinsCCTG (p.Leu762=) n.3101_3104delinsCCTG | |
X | g.53243435A>C | CA413154134 | IQSEC2 | c.2945T>G (p.Leu982Arg) c.738T>G c.247T>G c.76T>G c.2786T>G (p.Leu929Arg) n.537T>G c.2756T>G (p.Leu919Arg) c.2171T>G (p.Leu724Arg) c.2882T>G (p.Leu961Arg) c.2108T>G (p.Leu703Arg) c.2075T>G (p.Leu692Arg) n.3109T>G c.2288T>G (p.Leu763Arg) n.3103T>G | |
X | g.53243435A>G | CA413154137 | IQSEC2 | c.2945T>C (p.Leu982Pro) c.738T>C c.247T>C c.76T>C c.2786T>C (p.Leu929Pro) n.537T>C c.2756T>C (p.Leu919Pro) c.2171T>C (p.Leu724Pro) c.2882T>C (p.Leu961Pro) c.2108T>C (p.Leu703Pro) c.2075T>C (p.Leu692Pro) n.3109T>C c.2288T>C (p.Leu763Pro) n.3103T>C | |
X | g.53243435A>T | CA413154142 | IQSEC2 | c.2945T>A (p.Leu982Gln) c.738T>A c.247T>A c.76T>A c.2786T>A (p.Leu929Gln) n.537T>A c.2756T>A (p.Leu919Gln) c.2171T>A (p.Leu724Gln) c.2882T>A (p.Leu961Gln) c.2108T>A (p.Leu703Gln) c.2075T>A (p.Leu692Gln) n.3109T>A c.2288T>A (p.Leu763Gln) n.3103T>A | |
X | g.53243438_53243440del | CA915951126 | IQSEC2 | c.2943_2945del (p.Leu982del) c.736_738del c.245_247del c.74_76del c.2784_2786del (p.Leu929del) n.535_537del c.2754_2756del (p.Leu919del) c.2169_2171del (p.Leu724del) c.2880_2882del (p.Leu961del) c.2106_2108del (p.Leu703del) c.2073_2075del (p.Leu692del) n.3107_3109del c.2286_2288del (p.Leu763del) n.3101_3103del | ClinVar dbSNP |
X | g.53243436G>A | CA516426450 | IQSEC2 | c.2944C>T (p.Leu982=) c.737C>T c.246C>T c.75C>T c.2785C>T (p.Leu929=) n.536C>T c.2755C>T (p.Leu919=) c.2170C>T (p.Leu724=) c.2881C>T (p.Leu961=) c.2107C>T (p.Leu703=) c.2074C>T (p.Leu692=) n.3108C>T c.2287C>T (p.Leu763=) n.3102C>T | gnomAD v4 |
X | g.53243436G>C | CA413154146 | IQSEC2 | c.2944C>G (p.Leu982Val) c.737C>G c.246C>G c.75C>G c.2785C>G (p.Leu929Val) n.536C>G c.2755C>G (p.Leu919Val) c.2170C>G (p.Leu724Val) c.2881C>G (p.Leu961Val) c.2107C>G (p.Leu703Val) c.2074C>G (p.Leu692Val) n.3108C>G c.2287C>G (p.Leu763Val) n.3102C>G | |
X | g.53243436G>T | CA413154150 | IQSEC2 | c.2944C>A (p.Leu982Met) c.737C>A c.246C>A c.75C>A c.2785C>A (p.Leu929Met) n.536C>A c.2755C>A (p.Leu919Met) c.2170C>A (p.Leu724Met) c.2881C>A (p.Leu961Met) c.2107C>A (p.Leu703Met) c.2074C>A (p.Leu692Met) n.3108C>A c.2287C>A (p.Leu763Met) n.3102C>A | gnomAD v4 |
X | g.53243437G>A | CA516426454 | IQSEC2 | c.2943C>T (p.Leu981=) c.736C>T c.245C>T c.74C>T c.2784C>T (p.Leu928=) n.535C>T c.2754C>T (p.Leu918=) c.2169C>T (p.Leu723=) c.2880C>T (p.Leu960=) c.2106C>T (p.Leu702=) c.2073C>T (p.Leu691=) n.3107C>T c.2286C>T (p.Leu762=) n.3101C>T | gnomAD v4 |
X | g.53243437G>C | CA329164412 | IQSEC2 | c.2943C>G (p.Leu981=) c.736C>G c.245C>G c.74C>G c.2784C>G (p.Leu928=) n.535C>G c.2754C>G (p.Leu918=) c.2169C>G (p.Leu723=) c.2880C>G (p.Leu960=) c.2106C>G (p.Leu702=) c.2073C>G (p.Leu691=) n.3107C>G c.2286C>G (p.Leu762=) n.3101C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53243437G= | CA2429773375 | IQSEC2 | c.2943C= (p.Leu981=) c.736C= c.245C= c.74C= c.2784C= (p.Leu928=) n.535C= c.2754C= (p.Leu918=) c.2169C= (p.Leu723=) c.2880C= (p.Leu960=) c.2106C= (p.Leu702=) c.2073C= (p.Leu691=) n.3107C= c.2286C= (p.Leu762=) n.3101C= | |
X | g.53243437G>T | CA516426455 | IQSEC2 | c.2943C>A (p.Leu981=) c.736C>A c.245C>A c.74C>A c.2784C>A (p.Leu928=) n.535C>A c.2754C>A (p.Leu918=) c.2169C>A (p.Leu723=) c.2880C>A (p.Leu960=) c.2106C>A (p.Leu702=) c.2073C>A (p.Leu691=) n.3107C>A c.2286C>A (p.Leu762=) n.3101C>A | gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53243438A>C | CA413154166 | IQSEC2 | c.2942T>G (p.Leu981Arg) c.735T>G c.244T>G c.73T>G c.2783T>G (p.Leu928Arg) n.534T>G c.2753T>G (p.Leu918Arg) c.2168T>G (p.Leu723Arg) c.2879T>G (p.Leu960Arg) c.2105T>G (p.Leu702Arg) c.2072T>G (p.Leu691Arg) n.3106T>G c.2285T>G (p.Leu762Arg) n.3100T>G | |
X | g.53243438A>G | CA413154169 | IQSEC2 | c.2942T>C (p.Leu981Pro) c.735T>C c.244T>C c.73T>C c.2783T>C (p.Leu928Pro) n.534T>C c.2753T>C (p.Leu918Pro) c.2168T>C (p.Leu723Pro) c.2879T>C (p.Leu960Pro) c.2105T>C (p.Leu702Pro) c.2072T>C (p.Leu691Pro) n.3106T>C c.2285T>C (p.Leu762Pro) n.3100T>C | gnomAD v4 |
X | g.53243438A>T | CA413154173 | IQSEC2 | c.2942T>A (p.Leu981His) c.735T>A c.244T>A c.73T>A c.2783T>A (p.Leu928His) n.534T>A c.2753T>A (p.Leu918His) c.2168T>A (p.Leu723His) c.2879T>A (p.Leu960His) c.2105T>A (p.Leu702His) c.2072T>A (p.Leu691His) n.3106T>A c.2285T>A (p.Leu762His) n.3100T>A | |
X | g.53243439G>A | CA413154181 | IQSEC2 | c.2941C>T (p.Leu981Phe) c.734C>T c.243C>T c.72C>T c.2782C>T (p.Leu928Phe) n.533C>T c.2752C>T (p.Leu918Phe) c.2167C>T (p.Leu723Phe) c.2878C>T (p.Leu960Phe) c.2104C>T (p.Leu702Phe) c.2071C>T (p.Leu691Phe) n.3105C>T c.2284C>T (p.Leu762Phe) n.3099C>T | gnomAD v4 |
X | g.53243439G>C | CA413154198 | IQSEC2 | c.2941C>G (p.Leu981Val) c.734C>G c.243C>G c.72C>G c.2782C>G (p.Leu928Val) n.533C>G c.2752C>G (p.Leu918Val) c.2167C>G (p.Leu723Val) c.2878C>G (p.Leu960Val) c.2104C>G (p.Leu702Val) c.2071C>G (p.Leu691Val) n.3105C>G c.2284C>G (p.Leu762Val) n.3099C>G | |
X | g.53243439G>T | CA413154213 | IQSEC2 | c.2941C>A (p.Leu981Ile) c.734C>A c.243C>A c.72C>A c.2782C>A (p.Leu928Ile) n.533C>A c.2752C>A (p.Leu918Ile) c.2167C>A (p.Leu723Ile) c.2878C>A (p.Leu960Ile) c.2104C>A (p.Leu702Ile) c.2071C>A (p.Leu691Ile) n.3105C>A c.2284C>A (p.Leu762Ile) n.3099C>A | |
X | g.53243440G>A | CA329164415 | IQSEC2 | c.2940C>T (p.Asp980=) c.733C>T c.242C>T c.71C>T c.2781C>T (p.Asp927=) n.532C>T c.2751C>T (p.Asp917=) c.2166C>T (p.Asp722=) c.2877C>T (p.Asp959=) c.2103C>T (p.Asp701=) c.2070C>T (p.Asp690=) n.3104C>T c.2283C>T (p.Asp761=) n.3098C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53243440G>C | CA413154226 | IQSEC2 | c.2940C>G (p.Asp980Glu) c.733C>G c.242C>G c.71C>G c.2781C>G (p.Asp927Glu) n.532C>G c.2751C>G (p.Asp917Glu) c.2166C>G (p.Asp722Glu) c.2877C>G (p.Asp959Glu) c.2103C>G (p.Asp701Glu) c.2070C>G (p.Asp690Glu) n.3104C>G c.2283C>G (p.Asp761Glu) n.3098C>G | |
X | g.53243440G= | CA2429773376 | IQSEC2 | c.2940C= (p.Asp980=) c.733C= c.242C= c.71C= c.2781C= (p.Asp927=) n.532C= c.2751C= (p.Asp917=) c.2166C= (p.Asp722=) c.2877C= (p.Asp959=) c.2103C= (p.Asp701=) c.2070C= (p.Asp690=) n.3104C= c.2283C= (p.Asp761=) n.3098C= | |
X | g.53243440G>T | CA413154230 | IQSEC2 | c.2940C>A (p.Asp980Glu) c.733C>A c.242C>A c.71C>A c.2781C>A (p.Asp927Glu) n.532C>A c.2751C>A (p.Asp917Glu) c.2166C>A (p.Asp722Glu) c.2877C>A (p.Asp959Glu) c.2103C>A (p.Asp701Glu) c.2070C>A (p.Asp690Glu) n.3104C>A c.2283C>A (p.Asp761Glu) n.3098C>A | gnomAD v4 |
X | g.53243441T>A | CA413154240 | IQSEC2 | c.2939A>T (p.Asp980Val) c.732A>T c.241A>T c.70A>T c.2780A>T (p.Asp927Val) n.531A>T c.2750A>T (p.Asp917Val) c.2165A>T (p.Asp722Val) c.2876A>T (p.Asp959Val) c.2102A>T (p.Asp701Val) c.2069A>T (p.Asp690Val) n.3103A>T c.2282A>T (p.Asp761Val) n.3097A>T | |
X | g.53243441T>C | CA413154245 | IQSEC2 | c.2939A>G (p.Asp980Gly) c.732A>G c.241A>G c.70A>G c.2780A>G (p.Asp927Gly) n.531A>G c.2750A>G (p.Asp917Gly) c.2165A>G (p.Asp722Gly) c.2876A>G (p.Asp959Gly) c.2102A>G (p.Asp701Gly) c.2069A>G (p.Asp690Gly) n.3103A>G c.2282A>G (p.Asp761Gly) n.3097A>G | |
X | g.53243441T>G | CA413154238 | IQSEC2 | c.2939A>C (p.Asp980Ala) c.732A>C c.241A>C c.70A>C c.2780A>C (p.Asp927Ala) n.531A>C c.2750A>C (p.Asp917Ala) c.2165A>C (p.Asp722Ala) c.2876A>C (p.Asp959Ala) c.2102A>C (p.Asp701Ala) c.2069A>C (p.Asp690Ala) n.3103A>C c.2282A>C (p.Asp761Ala) n.3097A>C | |
X | g.53243442C>A | CA413154250 | IQSEC2 | c.2938G>T (p.Asp980Tyr) c.731G>T c.240G>T c.69G>T c.2779G>T (p.Asp927Tyr) n.530G>T c.2749G>T (p.Asp917Tyr) c.2164G>T (p.Asp722Tyr) c.2875G>T (p.Asp959Tyr) c.2101G>T (p.Asp701Tyr) c.2068G>T (p.Asp690Tyr) n.3102G>T c.2281G>T (p.Asp761Tyr) n.3096G>T | gnomAD v4 |
X | g.53243442C>G | CA413154253 | IQSEC2 | c.2938G>C (p.Asp980His) c.731G>C c.240G>C c.69G>C c.2779G>C (p.Asp927His) n.530G>C c.2749G>C (p.Asp917His) c.2164G>C (p.Asp722His) c.2875G>C (p.Asp959His) c.2101G>C (p.Asp701His) c.2068G>C (p.Asp690His) n.3102G>C c.2281G>C (p.Asp761His) n.3096G>C | |
X | g.53243442C>T | CA413154257 | IQSEC2 | c.2938G>A (p.Asp980Asn) c.731G>A c.240G>A c.69G>A c.2779G>A (p.Asp927Asn) n.530G>A c.2749G>A (p.Asp917Asn) c.2164G>A (p.Asp722Asn) c.2875G>A (p.Asp959Asn) c.2101G>A (p.Asp701Asn) c.2068G>A (p.Asp690Asn) n.3102G>A c.2281G>A (p.Asp761Asn) n.3096G>A | gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53243443T>A | CA516426469 | IQSEC2 | c.2937A>T (p.Arg979=) c.730A>T c.239A>T c.68A>T c.2778A>T (p.Arg926=) n.529A>T c.2748A>T (p.Arg916=) c.2163A>T (p.Arg721=) c.2874A>T (p.Arg958=) c.2100A>T (p.Arg700=) c.2067A>T (p.Arg689=) n.3101A>T c.2280A>T (p.Arg760=) n.3095A>T | gnomAD v4 |
X | g.53243443T>C | CA516426470 | IQSEC2 | c.2937A>G (p.Arg979=) c.730A>G c.239A>G c.68A>G c.2778A>G (p.Arg926=) n.529A>G c.2748A>G (p.Arg916=) c.2163A>G (p.Arg721=) c.2874A>G (p.Arg958=) c.2100A>G (p.Arg700=) c.2067A>G (p.Arg689=) n.3101A>G c.2280A>G (p.Arg760=) n.3095A>G | |
X | g.53243443T>G | CA516426473 | IQSEC2 | c.2937A>C (p.Arg979=) c.730A>C c.239A>C c.68A>C c.2778A>C (p.Arg926=) n.529A>C c.2748A>C (p.Arg916=) c.2163A>C (p.Arg721=) c.2874A>C (p.Arg958=) c.2100A>C (p.Arg700=) c.2067A>C (p.Arg689=) n.3101A>C c.2280A>C (p.Arg760=) n.3095A>C | |
X | g.53243444C>A | CA413154260 | IQSEC2 | c.2936G>T (p.Arg979Leu) c.729G>T c.238G>T c.67G>T c.2777G>T (p.Arg926Leu) n.528G>T c.2747G>T (p.Arg916Leu) c.2162G>T (p.Arg721Leu) c.2873G>T (p.Arg958Leu) c.2099G>T (p.Arg700Leu) c.2066G>T (p.Arg689Leu) n.3100G>T c.2279G>T (p.Arg760Leu) n.3094G>T | gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53243444C= | CA2429773377 | IQSEC2 | c.2936G= (p.Arg979=) c.729G= c.238G= c.67G= c.2777G= (p.Arg926=) n.528G= c.2747G= (p.Arg916=) c.2162G= (p.Arg721=) c.2873G= (p.Arg958=) c.2099G= (p.Arg700=) c.2066G= (p.Arg689=) n.3100G= c.2279G= (p.Arg760=) n.3094G= | |
X | g.53243444C>G | CA413154268 | IQSEC2 | c.2936G>C (p.Arg979Pro) c.729G>C c.238G>C c.67G>C c.2777G>C (p.Arg926Pro) n.528G>C c.2747G>C (p.Arg916Pro) c.2162G>C (p.Arg721Pro) c.2873G>C (p.Arg958Pro) c.2099G>C (p.Arg700Pro) c.2066G>C (p.Arg689Pro) n.3100G>C c.2279G>C (p.Arg760Pro) n.3094G>C | |
X | g.53243444C>T | CA413154271 | IQSEC2 | c.2936G>A (p.Arg979Gln) c.729G>A c.238G>A c.67G>A c.2777G>A (p.Arg926Gln) n.528G>A c.2747G>A (p.Arg916Gln) c.2162G>A (p.Arg721Gln) c.2873G>A (p.Arg958Gln) c.2099G>A (p.Arg700Gln) c.2066G>A (p.Arg689Gln) n.3100G>A c.2279G>A (p.Arg760Gln) n.3094G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53243445G>A | CA16608946 | IQSEC2 | c.2935C>T (p.Arg979Ter) c.728C>T c.237C>T c.66C>T c.2776C>T (p.Arg926Ter) n.527C>T c.2746C>T (p.Arg916Ter) c.2161C>T (p.Arg721Ter) c.2872C>T (p.Arg958Ter) c.2098C>T (p.Arg700Ter) c.2065C>T (p.Arg689Ter) n.3099C>T c.2278C>T (p.Arg760Ter) n.3093C>T | ClinVar dbSNP gnomAD v4 |
X | g.53243445G>C | CA413154282 | IQSEC2 | c.2935C>G (p.Arg979Gly) c.728C>G c.237C>G c.66C>G c.2776C>G (p.Arg926Gly) n.527C>G c.2746C>G (p.Arg916Gly) c.2161C>G (p.Arg721Gly) c.2872C>G (p.Arg958Gly) c.2098C>G (p.Arg700Gly) c.2065C>G (p.Arg689Gly) n.3099C>G c.2278C>G (p.Arg760Gly) n.3093C>G | |
X | g.53243445G= | CA2429773378 | IQSEC2 | c.2935C= (p.Arg979=) c.728C= c.237C= c.66C= c.2776C= (p.Arg926=) n.527C= c.2746C= (p.Arg916=) c.2161C= (p.Arg721=) c.2872C= (p.Arg958=) c.2098C= (p.Arg700=) c.2065C= (p.Arg689=) n.3099C= c.2278C= (p.Arg760=) n.3093C= | |
X | g.53243445G>T | CA516426479 | IQSEC2 | c.2935C>A (p.Arg979=) c.728C>A c.237C>A c.66C>A c.2776C>A (p.Arg926=) n.527C>A c.2746C>A (p.Arg916=) c.2161C>A (p.Arg721=) c.2872C>A (p.Arg958=) c.2098C>A (p.Arg700=) c.2065C>A (p.Arg689=) n.3099C>A c.2278C>A (p.Arg760=) n.3093C>A | gnomAD v4 |