Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.745713_745715del | CA2635152907 | GEMIN4 | c.2332_2334del (p.Phe778del) c.2299_2301del (p.Phe767del) c.2344_2346del (p.Phe782del) | gnomAD v4 |
17 | g.745712G>A | CA497384177 | GEMIN4 | c.2331C>T (p.Phe777=) c.2298C>T (p.Phe766=) c.2343C>T (p.Phe781=) | |
17 | g.745712G>C | CA397504051 | GEMIN4 | c.2331C>G (p.Phe777Leu) c.2298C>G (p.Phe766Leu) c.2343C>G (p.Phe781Leu) | dbSNP |
17 | g.745712G= | CA2242474385 | GEMIN4 | c.2331C= (p.Phe777=) c.2298C= (p.Phe766=) c.2343C= (p.Phe781=) | |
17 | g.745712G>T | CA397504052 | GEMIN4 | c.2331C>A (p.Phe777Leu) c.2298C>A (p.Phe766Leu) c.2343C>A (p.Phe781Leu) | |
17 | g.745713A= | CA2242474386 | GEMIN4 | c.2330T= (p.Phe777=) c.2297T= (p.Phe766=) c.2342T= (p.Phe781=) | |
17 | g.745713A>C | CA397504053 | GEMIN4 | c.2330T>G (p.Phe777Cys) c.2297T>G (p.Phe766Cys) c.2342T>G (p.Phe781Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745713A>G | CA397504054 | GEMIN4 | c.2330T>C (p.Phe777Ser) c.2297T>C (p.Phe766Ser) c.2342T>C (p.Phe781Ser) | |
17 | g.745713A>T | CA397504055 | GEMIN4 | c.2330T>A (p.Phe777Tyr) c.2297T>A (p.Phe766Tyr) c.2342T>A (p.Phe781Tyr) | |
17 | g.745714A= | CA2242474387 | GEMIN4 | c.2329T= (p.Phe777=) c.2296T= (p.Phe766=) c.2341T= (p.Phe781=) | |
17 | g.745714A>C | CA397504056 | GEMIN4 | c.2329T>G (p.Phe777Val) c.2296T>G (p.Phe766Val) c.2341T>G (p.Phe781Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745714A>G | CA397504057 | GEMIN4 | c.2329T>C (p.Phe777Leu) c.2296T>C (p.Phe766Leu) c.2341T>C (p.Phe781Leu) | gnomAD v4 |
17 | g.745714A>T | CA397504058 | GEMIN4 | c.2329T>A (p.Phe777Ile) c.2296T>A (p.Phe766Ile) c.2341T>A (p.Phe781Ile) | |
17 | g.745715G>A | CA497384193 | GEMIN4 | c.2328C>T (p.Ser776=) c.2295C>T (p.Ser765=) c.2340C>T (p.Ser780=) | |
17 | g.745715G>C | CA397504060 | GEMIN4 | c.2328C>G (p.Ser776Arg) c.2295C>G (p.Ser765Arg) c.2340C>G (p.Ser780Arg) | |
17 | g.745715G>T | CA397504059 | GEMIN4 | c.2328C>A (p.Ser776Arg) c.2295C>A (p.Ser765Arg) c.2340C>A (p.Ser780Arg) | |
17 | g.745716C>A | CA397504061 | GEMIN4 | c.2327G>T (p.Ser776Ile) c.2294G>T (p.Ser765Ile) c.2339G>T (p.Ser780Ile) | gnomAD v4 |
17 | g.745716C>G | CA397504062 | GEMIN4 | c.2327G>C (p.Ser776Thr) c.2294G>C (p.Ser765Thr) c.2339G>C (p.Ser780Thr) | |
17 | g.745716C>T | CA397504063 | GEMIN4 | c.2327G>A (p.Ser776Asn) c.2294G>A (p.Ser765Asn) c.2339G>A (p.Ser780Asn) | dbSNP |
17 | g.745717T>A | CA397504064 | GEMIN4 | c.2326A>T (p.Ser776Cys) c.2293A>T (p.Ser765Cys) c.2338A>T (p.Ser780Cys) | |
17 | g.745717T>C | CA397504065 | GEMIN4 | c.2326A>G (p.Ser776Gly) c.2293A>G (p.Ser765Gly) c.2338A>G (p.Ser780Gly) | gnomAD v4 COSMIC COSMIC |
17 | g.745717T>G | CA397504066 | GEMIN4 | c.2326A>C (p.Ser776Arg) c.2293A>C (p.Ser765Arg) c.2338A>C (p.Ser780Arg) | |
17 | g.745718C>A | CA397504068 | GEMIN4 | c.2325G>T (p.Lys775Asn) c.2292G>T (p.Lys764Asn) c.2337G>T (p.Lys779Asn) | |
17 | g.745718C>G | CA397504067 | GEMIN4 | c.2325G>C (p.Lys775Asn) c.2292G>C (p.Lys764Asn) c.2337G>C (p.Lys779Asn) | |
17 | g.745718C>T | CA497384205 | GEMIN4 | c.2325G>A (p.Lys775=) c.2292G>A (p.Lys764=) c.2337G>A (p.Lys779=) | gnomAD v4 |
17 | g.745719T>A | CA397504069 | GEMIN4 | c.2324A>T (p.Lys775Met) c.2291A>T (p.Lys764Met) c.2336A>T (p.Lys779Met) | |
17 | g.745719T>C | CA397504070 | GEMIN4 | c.2324A>G (p.Lys775Arg) c.2291A>G (p.Lys764Arg) c.2336A>G (p.Lys779Arg) | |
17 | g.745719T>G | CA397504071 | GEMIN4 | c.2324A>C (p.Lys775Thr) c.2291A>C (p.Lys764Thr) c.2336A>C (p.Lys779Thr) | |
17 | g.745720T>A | CA397504072 | GEMIN4 | c.2323A>T (p.Lys775Ter) c.2290A>T (p.Lys764Ter) c.2335A>T (p.Lys779Ter) | |
17 | g.745720T>C | CA397504073 | GEMIN4 | c.2323A>G (p.Lys775Glu) c.2290A>G (p.Lys764Glu) c.2335A>G (p.Lys779Glu) | |
17 | g.745720T>G | CA397504074 | GEMIN4 | c.2323A>C (p.Lys775Gln) c.2290A>C (p.Lys764Gln) c.2335A>C (p.Lys779Gln) | |
17 | g.745721C>A | CA497384211 | GEMIN4 | c.2322G>T (p.Leu774=) c.2289G>T (p.Leu763=) c.2334G>T (p.Leu778=) | gnomAD v4 |
17 | g.745721C= | CA2242474388 | GEMIN4 | c.2322G= (p.Leu774=) c.2289G= (p.Leu763=) c.2334G= (p.Leu778=) | |
17 | g.745721C>G | CA497384215 | GEMIN4 | c.2322G>C (p.Leu774=) c.2289G>C (p.Leu763=) c.2334G>C (p.Leu778=) | |
17 | g.745721C>T | CA497384218 | GEMIN4 | c.2322G>A (p.Leu774=) c.2289G>A (p.Leu763=) c.2334G>A (p.Leu778=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745722A>C | CA397504077 | GEMIN4 | c.2321T>G (p.Leu774Arg) c.2288T>G (p.Leu763Arg) c.2333T>G (p.Leu778Arg) | |
17 | g.745722A>G | CA397504075 | GEMIN4 | c.2321T>C (p.Leu774Pro) c.2288T>C (p.Leu763Pro) c.2333T>C (p.Leu778Pro) | |
17 | g.745722A>T | CA397504076 | GEMIN4 | c.2321T>A (p.Leu774Gln) c.2288T>A (p.Leu763Gln) c.2333T>A (p.Leu778Gln) | |
17 | g.745723G>A | CA497384225 | GEMIN4 | c.2320C>T (p.Leu774=) c.2287C>T (p.Leu763=) c.2332C>T (p.Leu778=) | gnomAD v4 |
17 | g.745723G>C | CA397504078 | GEMIN4 | c.2320C>G (p.Leu774Val) c.2287C>G (p.Leu763Val) c.2332C>G (p.Leu778Val) | |
17 | g.745723G>T | CA397504079 | GEMIN4 | c.2320C>A (p.Leu774Met) c.2287C>A (p.Leu763Met) c.2332C>A (p.Leu778Met) | |
17 | g.745724C>A | CA397504080 | GEMIN4 | c.2319G>T (p.Arg773Ser) c.2286G>T (p.Arg762Ser) c.2331G>T (p.Arg777Ser) | gnomAD v4 |
17 | g.745724C>G | CA397504081 | GEMIN4 | c.2319G>C (p.Arg773Ser) c.2286G>C (p.Arg762Ser) c.2331G>C (p.Arg777Ser) | |
17 | g.745724C>T | CA497384231 | GEMIN4 | c.2319G>A (p.Arg773=) c.2286G>A (p.Arg762=) c.2331G>A (p.Arg777=) | ClinVar gnomAD v4 |
17 | g.745725C>A | CA397504082 | GEMIN4 | c.2318G>T (p.Arg773Met) c.2285G>T (p.Arg762Met) c.2330G>T (p.Arg777Met) | dbSNP |
17 | g.745725C= | CA2242474389 | GEMIN4 | c.2318G= (p.Arg773=) c.2285G= (p.Arg762=) c.2330G= (p.Arg777=) | |
17 | g.745725C>G | CA397504083 | GEMIN4 | c.2318G>C (p.Arg773Thr) c.2285G>C (p.Arg762Thr) c.2330G>C (p.Arg777Thr) | dbSNP |
17 | g.745725C>T | CA397504084 | GEMIN4 | c.2318G>A (p.Arg773Lys) c.2285G>A (p.Arg762Lys) c.2330G>A (p.Arg777Lys) | |
17 | g.745726T>A | CA397504085 | GEMIN4 | c.2317A>T (p.Arg773Trp) c.2284A>T (p.Arg762Trp) c.2329A>T (p.Arg777Trp) | |
17 | g.745726T>C | CA397504086 | GEMIN4 | c.2317A>G (p.Arg773Gly) c.2284A>G (p.Arg762Gly) c.2329A>G (p.Arg777Gly) | |
17 | g.745726T>G | CA497384238 | GEMIN4 | c.2317A>C (p.Arg773=) c.2284A>C (p.Arg762=) c.2329A>C (p.Arg777=) | |
17 | g.745727C>A | CA497384242 | GEMIN4 | c.2316G>T (p.Leu772=) c.2283G>T (p.Leu761=) c.2328G>T (p.Leu776=) | |
17 | g.745727C= | CA2242474390 | GEMIN4 | c.2316G= (p.Leu772=) c.2283G= (p.Leu761=) c.2328G= (p.Leu776=) | |
17 | g.745727C>G | CA497384245 | GEMIN4 | c.2316G>C (p.Leu772=) c.2283G>C (p.Leu761=) c.2328G>C (p.Leu776=) | |
17 | g.745727C>T | CA286713659 | GEMIN4 | c.2316G>A (p.Leu772=) c.2283G>A (p.Leu761=) c.2328G>A (p.Leu776=) | dbSNP |
17 | g.745728A>C | CA397504087 | GEMIN4 | c.2315T>G (p.Leu772Arg) c.2282T>G (p.Leu761Arg) c.2327T>G (p.Leu776Arg) | |
17 | g.745728A>G | CA397504088 | GEMIN4 | c.2315T>C (p.Leu772Pro) c.2282T>C (p.Leu761Pro) c.2327T>C (p.Leu776Pro) | gnomAD v4 |
17 | g.745728A>T | CA397504089 | GEMIN4 | c.2315T>A (p.Leu772Gln) c.2282T>A (p.Leu761Gln) c.2327T>A (p.Leu776Gln) | |
17 | g.745729G>A | CA497384259 | GEMIN4 | c.2314C>T (p.Leu772=) c.2281C>T (p.Leu761=) c.2326C>T (p.Leu776=) | |
17 | g.745729G>C | CA397504090 | GEMIN4 | c.2314C>G (p.Leu772Val) c.2281C>G (p.Leu761Val) c.2326C>G (p.Leu776Val) | |
17 | g.745729G>T | CA397504091 | GEMIN4 | c.2314C>A (p.Leu772Met) c.2281C>A (p.Leu761Met) c.2326C>A (p.Leu776Met) | |
17 | g.745730G>A | CA497384263 | GEMIN4 | c.2313C>T (p.Gly771=) c.2280C>T (p.Gly760=) c.2325C>T (p.Gly775=) | dbSNP gnomAD v2 |
17 | g.745730G>C | CA497384265 | GEMIN4 | c.2313C>G (p.Gly771=) c.2280C>G (p.Gly760=) c.2325C>G (p.Gly775=) | |
17 | g.745730G= | CA2242474391 | GEMIN4 | c.2313C= (p.Gly771=) c.2280C= (p.Gly760=) c.2325C= (p.Gly775=) | |
17 | g.745730G>T | CA497384267 | GEMIN4 | c.2313C>A (p.Gly771=) c.2280C>A (p.Gly760=) c.2325C>A (p.Gly775=) | |
17 | g.745731C>A | CA397504094 | GEMIN4 | c.2312G>T (p.Gly771Val) c.2279G>T (p.Gly760Val) c.2324G>T (p.Gly775Val) | |
17 | g.745731C>G | CA397504092 | GEMIN4 | c.2312G>C (p.Gly771Ala) c.2279G>C (p.Gly760Ala) c.2324G>C (p.Gly775Ala) | |
17 | g.745731C>T | CA397504093 | GEMIN4 | c.2312G>A (p.Gly771Asp) c.2279G>A (p.Gly760Asp) c.2324G>A (p.Gly775Asp) | |
17 | g.745732C>A | CA397504095 | GEMIN4 | c.2311G>T (p.Gly771Cys) c.2278G>T (p.Gly760Cys) c.2323G>T (p.Gly775Cys) | |
17 | g.745732C>G | CA397504096 | GEMIN4 | c.2311G>C (p.Gly771Arg) c.2278G>C (p.Gly760Arg) c.2323G>C (p.Gly775Arg) | |
17 | g.745732C>T | CA397504097 | GEMIN4 | c.2311G>A (p.Gly771Ser) c.2278G>A (p.Gly760Ser) c.2323G>A (p.Gly775Ser) | gnomAD v4 |
17 | g.745732_745737del | CA2635152966 | GEMIN4 | c.2306_2311del (p.Thr769_Gly771delinsSer) c.2273_2278del (p.Thr758_Gly760delinsSer) c.2318_2323del (p.Thr773_Gly775delinsSer) | gnomAD v4 |
17 | g.745733C>A | CA497384276 | GEMIN4 | c.2310G>T (p.Val770=) c.2277G>T (p.Val759=) c.2322G>T (p.Val774=) | gnomAD v4 |
17 | g.745733C>G | CA497384277 | GEMIN4 | c.2310G>C (p.Val770=) c.2277G>C (p.Val759=) c.2322G>C (p.Val774=) | |
17 | g.745733C>T | CA497384280 | GEMIN4 | c.2310G>A (p.Val770=) c.2277G>A (p.Val759=) c.2322G>A (p.Val774=) | |
17 | g.745734A>C | CA397504098 | GEMIN4 | c.2309T>G (p.Val770Gly) c.2276T>G (p.Val759Gly) c.2321T>G (p.Val774Gly) | |
17 | g.745734A>G | CA397504099 | GEMIN4 | c.2309T>C (p.Val770Ala) c.2276T>C (p.Val759Ala) c.2321T>C (p.Val774Ala) | |
17 | g.745734A>T | CA397504100 | GEMIN4 | c.2309T>A (p.Val770Glu) c.2276T>A (p.Val759Glu) c.2321T>A (p.Val774Glu) | |
17 | g.745735C>A | CA286713660 | GEMIN4 | c.2308G>T (p.Val770Leu) c.2275G>T (p.Val759Leu) c.2320G>T (p.Val774Leu) | dbSNP |
17 | g.745735C= | CA2242474392 | GEMIN4 | c.2308G= (p.Val770=) c.2275G= (p.Val759=) c.2320G= (p.Val774=) | |
17 | g.745735C>G | CA397504101 | GEMIN4 | c.2308G>C (p.Val770Leu) c.2275G>C (p.Val759Leu) c.2320G>C (p.Val774Leu) | |
17 | g.745735C>T | CA397504102 | GEMIN4 | c.2308G>A (p.Val770Met) c.2275G>A (p.Val759Met) c.2320G>A (p.Val774Met) | |
17 | g.745736A>C | CA497384285 | GEMIN4 | c.2307T>G (p.Thr769=) c.2274T>G (p.Thr758=) c.2319T>G (p.Thr773=) | |
17 | g.745736A>G | CA497384287 | GEMIN4 | c.2307T>C (p.Thr769=) c.2274T>C (p.Thr758=) c.2319T>C (p.Thr773=) | |
17 | g.745736A>T | CA497384289 | GEMIN4 | c.2307T>A (p.Thr769=) c.2274T>A (p.Thr758=) c.2319T>A (p.Thr773=) | |
17 | g.745737G>A | CA397504103 | GEMIN4 | c.2306C>T (p.Thr769Ile) c.2273C>T (p.Thr758Ile) c.2318C>T (p.Thr773Ile) | |
17 | g.745737G>C | CA397504104 | GEMIN4 | c.2306C>G (p.Thr769Ser) c.2273C>G (p.Thr758Ser) c.2318C>G (p.Thr773Ser) | |
17 | g.745737G>T | CA397504105 | GEMIN4 | c.2306C>A (p.Thr769Asn) c.2273C>A (p.Thr758Asn) c.2318C>A (p.Thr773Asn) | |
17 | g.745738T>A | CA397504106 | GEMIN4 | c.2305A>T (p.Thr769Ser) c.2272A>T (p.Thr758Ser) c.2317A>T (p.Thr773Ser) | |
17 | g.745738T>C | CA397504108 | GEMIN4 | c.2305A>G (p.Thr769Ala) c.2272A>G (p.Thr758Ala) c.2317A>G (p.Thr773Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745738T>G | CA397504107 | GEMIN4 | c.2305A>C (p.Thr769Pro) c.2272A>C (p.Thr758Pro) c.2317A>C (p.Thr773Pro) | |
17 | g.745738T= | CA2242474393 | GEMIN4 | c.2305A= (p.Thr769=) c.2272A= (p.Thr758=) c.2317A= (p.Thr773=) | |
17 | g.745739C>A | CA8262440 | GEMIN4 | c.2304G>T (p.Trp768Cys) c.2271G>T (p.Trp757Cys) c.2316G>T (p.Trp772Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745739C= | CA2242474394 | GEMIN4 | c.2304G= (p.Trp768=) c.2271G= (p.Trp757=) c.2316G= (p.Trp772=) | |
17 | g.745739C>G | CA397504110 | GEMIN4 | c.2304G>C (p.Trp768Cys) c.2271G>C (p.Trp757Cys) c.2316G>C (p.Trp772Cys) | gnomAD v4 |
17 | g.745739C>T | CA397504109 | GEMIN4 | c.2304G>A (p.Trp768Ter) c.2271G>A (p.Trp757Ter) c.2316G>A (p.Trp772Ter) | gnomAD v4 |
17 | g.745740C>A | CA397504111 | GEMIN4 | c.2303G>T (p.Trp768Leu) c.2270G>T (p.Trp757Leu) c.2315G>T (p.Trp772Leu) | gnomAD v4 |
17 | g.745740C>G | CA397504112 | GEMIN4 | c.2303G>C (p.Trp768Ser) c.2270G>C (p.Trp757Ser) c.2315G>C (p.Trp772Ser) | |
17 | g.745740C>T | CA397504113 | GEMIN4 | c.2303G>A (p.Trp768Ter) c.2270G>A (p.Trp757Ter) c.2315G>A (p.Trp772Ter) | gnomAD v4 |
17 | g.745741A= | CA2242474395 | GEMIN4 | c.2302T= (p.Trp768=) c.2269T= (p.Trp757=) c.2314T= (p.Trp772=) | |
17 | g.745741A>C | CA397504114 | GEMIN4 | c.2302T>G (p.Trp768Gly) c.2269T>G (p.Trp757Gly) c.2314T>G (p.Trp772Gly) | |
17 | g.745741A>G | CA397504115 | GEMIN4 | c.2302T>C (p.Trp768Arg) c.2269T>C (p.Trp757Arg) c.2314T>C (p.Trp772Arg) | dbSNP |
17 | g.745741A>T | CA397504116 | GEMIN4 | c.2302T>A (p.Trp768Arg) c.2269T>A (p.Trp757Arg) c.2314T>A (p.Trp772Arg) | |
17 | g.745742G>A | CA8262441 | GEMIN4 | c.2301C>T (p.Asp767=) c.2268C>T (p.Asp756=) c.2313C>T (p.Asp771=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745742G>C | CA397504117 | GEMIN4 | c.2301C>G (p.Asp767Glu) c.2268C>G (p.Asp756Glu) c.2313C>G (p.Asp771Glu) | |
17 | g.745742G= | CA2242474396 | GEMIN4 | c.2301C= (p.Asp767=) c.2268C= (p.Asp756=) c.2313C= (p.Asp771=) | |
17 | g.745742G>T | CA397504118 | GEMIN4 | c.2301C>A (p.Asp767Glu) c.2268C>A (p.Asp756Glu) c.2313C>A (p.Asp771Glu) | |
17 | g.745743T>A | CA397504119 | GEMIN4 | c.2300A>T (p.Asp767Val) c.2267A>T (p.Asp756Val) c.2312A>T (p.Asp771Val) | |
17 | g.745743T>C | CA397504120 | GEMIN4 | c.2300A>G (p.Asp767Gly) c.2267A>G (p.Asp756Gly) c.2312A>G (p.Asp771Gly) | gnomAD v4 |
17 | g.745743T>G | CA397504121 | GEMIN4 | c.2300A>C (p.Asp767Ala) c.2267A>C (p.Asp756Ala) c.2312A>C (p.Asp771Ala) | |
17 | g.745744C>A | CA397504122 | GEMIN4 | c.2299G>T (p.Asp767Tyr) c.2266G>T (p.Asp756Tyr) c.2311G>T (p.Asp771Tyr) | |
17 | g.745744C>G | CA397504124 | GEMIN4 | c.2299G>C (p.Asp767His) c.2266G>C (p.Asp756His) c.2311G>C (p.Asp771His) | |
17 | g.745744C>T | CA397504123 | GEMIN4 | c.2299G>A (p.Asp767Asn) c.2266G>A (p.Asp756Asn) c.2311G>A (p.Asp771Asn) | |
17 | g.745745T>A | CA497384303 | GEMIN4 | c.2298A>T (p.Leu766=) c.2265A>T (p.Leu755=) c.2310A>T (p.Leu770=) | |
17 | g.745745T>C | CA497384305 | GEMIN4 | c.2298A>G (p.Leu766=) c.2265A>G (p.Leu755=) c.2310A>G (p.Leu770=) | |
17 | g.745745T>G | CA497384306 | GEMIN4 | c.2298A>C (p.Leu766=) c.2265A>C (p.Leu755=) c.2310A>C (p.Leu770=) | |
17 | g.745746A= | CA2242474397 | GEMIN4 | c.2297T= (p.Leu766=) c.2264T= (p.Leu755=) c.2309T= (p.Leu770=) | |
17 | g.745746A>C | CA397504125 | GEMIN4 | c.2297T>G (p.Leu766Arg) c.2264T>G (p.Leu755Arg) c.2309T>G (p.Leu770Arg) | gnomAD v4 |
17 | g.745746A>G | CA397504126 | GEMIN4 | c.2297T>C (p.Leu766Pro) c.2264T>C (p.Leu755Pro) c.2309T>C (p.Leu770Pro) | gnomAD v4 |
17 | g.745746A>T | CA8262442 | GEMIN4 | c.2297T>A (p.Leu766Gln) c.2264T>A (p.Leu755Gln) c.2309T>A (p.Leu770Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745747G>A | CA497384311 | GEMIN4 | c.2296C>T (p.Leu766=) c.2263C>T (p.Leu755=) c.2308C>T (p.Leu770=) | gnomAD v4 |
17 | g.745747G>C | CA397504127 | GEMIN4 | c.2296C>G (p.Leu766Val) c.2263C>G (p.Leu755Val) c.2308C>G (p.Leu770Val) | |
17 | g.745747G>T | CA397504128 | GEMIN4 | c.2296C>A (p.Leu766Ile) c.2263C>A (p.Leu755Ile) c.2308C>A (p.Leu770Ile) | |
17 | g.745748C>A | CA397504129 | GEMIN4 | c.2295G>T (p.Gln765His) c.2262G>T (p.Gln754His) c.2307G>T (p.Gln769His) | gnomAD v4 |
17 | g.745748C>G | CA397504130 | GEMIN4 | c.2295G>C (p.Gln765His) c.2262G>C (p.Gln754His) c.2307G>C (p.Gln769His) | |
17 | g.745748C>T | CA497384313 | GEMIN4 | c.2295G>A (p.Gln765=) c.2262G>A (p.Gln754=) c.2307G>A (p.Gln769=) | gnomAD v4 |
17 | g.745749T>A | CA397504131 | GEMIN4 | c.2294A>T (p.Gln765Leu) c.2261A>T (p.Gln754Leu) c.2306A>T (p.Gln769Leu) | |
17 | g.745749T>C | CA397504132 | GEMIN4 | c.2294A>G (p.Gln765Arg) c.2261A>G (p.Gln754Arg) c.2306A>G (p.Gln769Arg) | |
17 | g.745749T>G | CA397504133 | GEMIN4 | c.2294A>C (p.Gln765Pro) c.2261A>C (p.Gln754Pro) c.2306A>C (p.Gln769Pro) | |
17 | g.745750G>A | CA397504135 | GEMIN4 | c.2293C>T (p.Gln765Ter) c.2260C>T (p.Gln754Ter) c.2305C>T (p.Gln769Ter) | |
17 | g.745750G>C | CA397504136 | GEMIN4 | c.2293C>G (p.Gln765Glu) c.2260C>G (p.Gln754Glu) c.2305C>G (p.Gln769Glu) | dbSNP gnomAD v4 |
17 | g.745750G= | CA2242474398 | GEMIN4 | c.2293C= (p.Gln765=) c.2260C= (p.Gln754=) c.2305C= (p.Gln769=) | |
17 | g.745750G>T | CA397504134 | GEMIN4 | c.2293C>A (p.Gln765Lys) c.2260C>A (p.Gln754Lys) c.2305C>A (p.Gln769Lys) | |
17 | g.745751T>A | CA397504137 | GEMIN4 | c.2292A>T (p.Glu764Asp) c.2259A>T (p.Glu753Asp) c.2304A>T (p.Glu768Asp) | |
17 | g.745751T>C | CA497384319 | GEMIN4 | c.2292A>G (p.Glu764=) c.2259A>G (p.Glu753=) c.2304A>G (p.Glu768=) | gnomAD v4 |
17 | g.745751T>G | CA397504138 | GEMIN4 | c.2292A>C (p.Glu764Asp) c.2259A>C (p.Glu753Asp) c.2304A>C (p.Glu768Asp) | |
17 | g.745752T>A | CA397504139 | GEMIN4 | c.2291A>T (p.Glu764Val) c.2258A>T (p.Glu753Val) c.2303A>T (p.Glu768Val) | |
17 | g.745752T>C | CA397504140 | GEMIN4 | c.2291A>G (p.Glu764Gly) c.2258A>G (p.Glu753Gly) c.2303A>G (p.Glu768Gly) | |
17 | g.745752T>G | CA397504141 | GEMIN4 | c.2291A>C (p.Glu764Ala) c.2258A>C (p.Glu753Ala) c.2303A>C (p.Glu768Ala) | |
17 | g.745753C>A | CA397504142 | GEMIN4 | c.2290G>T (p.Glu764Ter) c.2257G>T (p.Glu753Ter) c.2302G>T (p.Glu768Ter) | |
17 | g.745753C= | CA2242474399 | GEMIN4 | c.2290G= (p.Glu764=) c.2257G= (p.Glu753=) c.2302G= (p.Glu768=) | |
17 | g.745753C>G | CA397504143 | GEMIN4 | c.2290G>C (p.Glu764Gln) c.2257G>C (p.Glu753Gln) c.2302G>C (p.Glu768Gln) | |
17 | g.745753C>T | CA397504144 | GEMIN4 | c.2290G>A (p.Glu764Lys) c.2257G>A (p.Glu753Lys) c.2302G>A (p.Glu768Lys) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745754T>A | CA397504145 | GEMIN4 | c.2289A>T (p.Leu763Phe) c.2256A>T (p.Leu752Phe) c.2301A>T (p.Leu767Phe) | |
17 | g.745754T>C | CA497384325 | GEMIN4 | c.2289A>G (p.Leu763=) c.2256A>G (p.Leu752=) c.2301A>G (p.Leu767=) | |
17 | g.745754T>G | CA397504146 | GEMIN4 | c.2289A>C (p.Leu763Phe) c.2256A>C (p.Leu752Phe) c.2301A>C (p.Leu767Phe) | |
17 | g.745755A>C | CA397504147 | GEMIN4 | c.2288T>G (p.Leu763Ter) c.2255T>G (p.Leu752Ter) c.2300T>G (p.Leu767Ter) | |
17 | g.745755A>G | CA397504148 | GEMIN4 | c.2288T>C (p.Leu763Ser) c.2255T>C (p.Leu752Ser) c.2300T>C (p.Leu767Ser) | |
17 | g.745755A>T | CA397504149 | GEMIN4 | c.2288T>A (p.Leu763Ter) c.2255T>A (p.Leu752Ter) c.2300T>A (p.Leu767Ter) | |
17 | g.745756A>C | CA397504151 | GEMIN4 | c.2287T>G (p.Leu763Val) c.2254T>G (p.Leu752Val) c.2299T>G (p.Leu767Val) | |
17 | g.745756A>G | CA497384328 | GEMIN4 | c.2287T>C (p.Leu763=) c.2254T>C (p.Leu752=) c.2299T>C (p.Leu767=) | |
17 | g.745756A>T | CA397504150 | GEMIN4 | c.2287T>A (p.Leu763Ile) c.2254T>A (p.Leu752Ile) c.2299T>A (p.Leu767Ile) | |
17 | g.745756_745757delinsAC | CA2242474400 | GEMIN4 | c.2286_2287delinsGT (p.Lys762=) c.2253_2254delinsGT (p.Lys751=) c.2298_2299delinsGT (p.Lys766=) | |
17 | g.745757del | CA624456766 | GEMIN4 | c.2286del (p.Lys762AsnfsTer2) c.2253del (p.Lys751AsnfsTer2) c.2298del (p.Lys766AsnfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745757C>A | CA397504152 | GEMIN4 | c.2286G>T (p.Lys762Asn) c.2253G>T (p.Lys751Asn) c.2298G>T (p.Lys766Asn) | |
17 | g.745757C>G | CA397504153 | GEMIN4 | c.2286G>C (p.Lys762Asn) c.2253G>C (p.Lys751Asn) c.2298G>C (p.Lys766Asn) | |
17 | g.745757C>T | CA497384332 | GEMIN4 | c.2286G>A (p.Lys762=) c.2253G>A (p.Lys751=) c.2298G>A (p.Lys766=) | gnomAD v4 |
17 | g.745758T>A | CA397504154 | GEMIN4 | c.2285A>T (p.Lys762Met) c.2252A>T (p.Lys751Met) c.2297A>T (p.Lys766Met) | |
17 | g.745758T>C | CA397504155 | GEMIN4 | c.2285A>G (p.Lys762Arg) c.2252A>G (p.Lys751Arg) c.2297A>G (p.Lys766Arg) | |
17 | g.745758T>G | CA397504156 | GEMIN4 | c.2285A>C (p.Lys762Thr) c.2252A>C (p.Lys751Thr) c.2297A>C (p.Lys766Thr) | |
17 | g.745759T>A | CA397504157 | GEMIN4 | c.2284A>T (p.Lys762Ter) c.2251A>T (p.Lys751Ter) c.2296A>T (p.Lys766Ter) | |
17 | g.745759T>C | CA397504158 | GEMIN4 | c.2284A>G (p.Lys762Glu) c.2251A>G (p.Lys751Glu) c.2296A>G (p.Lys766Glu) | |
17 | g.745759T>G | CA397504159 | GEMIN4 | c.2284A>C (p.Lys762Gln) c.2251A>C (p.Lys751Gln) c.2296A>C (p.Lys766Gln) | |
17 | g.745760G>A | CA497384335 | GEMIN4 | c.2283C>T (p.Arg761=) c.2250C>T (p.Arg750=) c.2295C>T (p.Arg765=) | gnomAD v4 |
17 | g.745760G>C | CA497384336 | GEMIN4 | c.2283C>G (p.Arg761=) c.2250C>G (p.Arg750=) c.2295C>G (p.Arg765=) | |
17 | g.745760G= | CA2242474401 | GEMIN4 | c.2283C= (p.Arg761=) c.2250C= (p.Arg750=) c.2295C= (p.Arg765=) | |
17 | g.745760G>T | CA497384338 | GEMIN4 | c.2283C>A (p.Arg761=) c.2250C>A (p.Arg750=) c.2295C>A (p.Arg765=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745761C>A | CA8262443 | GEMIN4 | c.2282G>T (p.Arg761Leu) c.2249G>T (p.Arg750Leu) c.2294G>T (p.Arg765Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745761C= | CA2242474402 | GEMIN4 | c.2282G= (p.Arg761=) c.2249G= (p.Arg750=) c.2294G= (p.Arg765=) | |
17 | g.745761C>G | CA397504160 | GEMIN4 | c.2282G>C (p.Arg761Pro) c.2249G>C (p.Arg750Pro) c.2294G>C (p.Arg765Pro) | |
17 | g.745761C>T | CA397504161 | GEMIN4 | c.2282G>A (p.Arg761His) c.2249G>A (p.Arg750His) c.2294G>A (p.Arg765His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745762G>A | CA8262444 | GEMIN4 | c.2281C>T (p.Arg761Cys) c.2248C>T (p.Arg750Cys) c.2293C>T (p.Arg765Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.745762G>C | CA397504162 | GEMIN4 | c.2281C>G (p.Arg761Gly) c.2248C>G (p.Arg750Gly) c.2293C>G (p.Arg765Gly) | |
17 | g.745762G= | CA2242474403 | GEMIN4 | c.2281C= (p.Arg761=) c.2248C= (p.Arg750=) c.2293C= (p.Arg765=) | |
17 | g.745762G>T | CA397504163 | GEMIN4 | c.2281C>A (p.Arg761Ser) c.2248C>A (p.Arg750Ser) c.2293C>A (p.Arg765Ser) | |
17 | g.745763G>A | CA497384340 | GEMIN4 | c.2280C>T (p.His760=) c.2247C>T (p.His749=) c.2292C>T (p.His764=) | gnomAD v4 |
17 | g.745763G>C | CA397504164 | GEMIN4 | c.2280C>G (p.His760Gln) c.2247C>G (p.His749Gln) c.2292C>G (p.His764Gln) | |
17 | g.745763G>T | CA397504165 | GEMIN4 | c.2280C>A (p.His760Gln) c.2247C>A (p.His749Gln) c.2292C>A (p.His764Gln) | |
17 | g.745764T>A | CA397504166 | GEMIN4 | c.2279A>T (p.His760Leu) c.2246A>T (p.His749Leu) c.2291A>T (p.His764Leu) | |
17 | g.745764T>C | CA397504168 | GEMIN4 | c.2279A>G (p.His760Arg) c.2246A>G (p.His749Arg) c.2291A>G (p.His764Arg) | |
17 | g.745764T>G | CA397504167 | GEMIN4 | c.2279A>C (p.His760Pro) c.2246A>C (p.His749Pro) c.2291A>C (p.His764Pro) | gnomAD v4 |
17 | g.745765G>A | CA397504169 | GEMIN4 | c.2278C>T (p.His760Tyr) c.2245C>T (p.His749Tyr) c.2290C>T (p.His764Tyr) | |
17 | g.745765G>C | CA397504171 | GEMIN4 | c.2278C>G (p.His760Asp) c.2245C>G (p.His749Asp) c.2290C>G (p.His764Asp) | |
17 | g.745765G>T | CA397504170 | GEMIN4 | c.2278C>A (p.His760Asn) c.2245C>A (p.His749Asn) c.2290C>A (p.His764Asn) | |
17 | g.745766G>A | CA497384343 | GEMIN4 | c.2277C>T (p.Leu759=) c.2244C>T (p.Leu748=) c.2289C>T (p.Leu763=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745766G>C | CA497384345 | GEMIN4 | c.2277C>G (p.Leu759=) c.2244C>G (p.Leu748=) c.2289C>G (p.Leu763=) | |
17 | g.745766G= | CA2242474404 | GEMIN4 | c.2277C= (p.Leu759=) c.2244C= (p.Leu748=) c.2289C= (p.Leu763=) | |
17 | g.745766G>T | CA497384346 | GEMIN4 | c.2277C>A (p.Leu759=) c.2244C>A (p.Leu748=) c.2289C>A (p.Leu763=) | |
17 | g.745767A>C | CA397504172 | GEMIN4 | c.2276T>G (p.Leu759Arg) c.2243T>G (p.Leu748Arg) c.2288T>G (p.Leu763Arg) | |
17 | g.745767A>G | CA397504173 | GEMIN4 | c.2276T>C (p.Leu759Pro) c.2243T>C (p.Leu748Pro) c.2288T>C (p.Leu763Pro) | gnomAD v4 |
17 | g.745767A>T | CA397504174 | GEMIN4 | c.2276T>A (p.Leu759His) c.2243T>A (p.Leu748His) c.2288T>A (p.Leu763His) | |
17 | g.745768G>A | CA397504175 | GEMIN4 | c.2275C>T (p.Leu759Phe) c.2242C>T (p.Leu748Phe) c.2287C>T (p.Leu763Phe) | |
17 | g.745768G>C | CA397504176 | GEMIN4 | c.2275C>G (p.Leu759Val) c.2242C>G (p.Leu748Val) c.2287C>G (p.Leu763Val) | |
17 | g.745768G>T | CA397504177 | GEMIN4 | c.2275C>A (p.Leu759Ile) c.2242C>A (p.Leu748Ile) c.2287C>A (p.Leu763Ile) | |
17 | g.745769C>A | CA397504178 | GEMIN4 | c.2274G>T (p.Trp758Cys) c.2241G>T (p.Trp747Cys) c.2286G>T (p.Trp762Cys) | |
17 | g.745769C= | CA2242474405 | GEMIN4 | c.2274G= (p.Trp758=) c.2241G= (p.Trp747=) c.2286G= (p.Trp762=) | |
17 | g.745769C>G | CA397504179 | GEMIN4 | c.2274G>C (p.Trp758Cys) c.2241G>C (p.Trp747Cys) c.2286G>C (p.Trp762Cys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745769C>T | CA397504180 | GEMIN4 | c.2274G>A (p.Trp758Ter) c.2241G>A (p.Trp747Ter) c.2286G>A (p.Trp762Ter) | |
17 | g.745770C>A | CA397504181 | GEMIN4 | c.2273G>T (p.Trp758Leu) c.2240G>T (p.Trp747Leu) c.2285G>T (p.Trp762Leu) | |
17 | g.745770C= | CA2242474406 | GEMIN4 | c.2273G= (p.Trp758=) c.2240G= (p.Trp747=) c.2285G= (p.Trp762=) | |
17 | g.745770C>G | CA8262445 | GEMIN4 | c.2273G>C (p.Trp758Ser) c.2240G>C (p.Trp747Ser) c.2285G>C (p.Trp762Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745770C>T | CA397504182 | GEMIN4 | c.2273G>A (p.Trp758Ter) c.2240G>A (p.Trp747Ter) c.2285G>A (p.Trp762Ter) | |
17 | g.745771A>C | CA397504185 | GEMIN4 | c.2272T>G (p.Trp758Gly) c.2239T>G (p.Trp747Gly) c.2284T>G (p.Trp762Gly) | |
17 | g.745771A>G | CA397504183 | GEMIN4 | c.2272T>C (p.Trp758Arg) c.2239T>C (p.Trp747Arg) c.2284T>C (p.Trp762Arg) | |
17 | g.745771A>T | CA397504184 | GEMIN4 | c.2272T>A (p.Trp758Arg) c.2239T>A (p.Trp747Arg) c.2284T>A (p.Trp762Arg) | |
17 | g.745772G>A | CA497384353 | GEMIN4 | c.2271C>T (p.Ser757=) c.2238C>T (p.Ser746=) c.2283C>T (p.Ser761=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745772G>C | CA497384354 | GEMIN4 | c.2271C>G (p.Ser757=) c.2238C>G (p.Ser746=) c.2283C>G (p.Ser761=) | dbSNP gnomAD v4 |
17 | g.745772G= | CA2242474407 | GEMIN4 | c.2271C= (p.Ser757=) c.2238C= (p.Ser746=) c.2283C= (p.Ser761=) | |
17 | g.745772G>T | CA497384355 | GEMIN4 | c.2271C>A (p.Ser757=) c.2238C>A (p.Ser746=) c.2283C>A (p.Ser761=) | COSMIC COSMIC |
17 | g.745773G>A | CA286713661 | GEMIN4 | c.2270C>T (p.Ser757Phe) c.2237C>T (p.Ser746Phe) c.2282C>T (p.Ser761Phe) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745773G>C | CA8262446 | GEMIN4 | c.2270C>G (p.Ser757Cys) c.2237C>G (p.Ser746Cys) c.2282C>G (p.Ser761Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745773G= | CA2242474408 | GEMIN4 | c.2270C= (p.Ser757=) c.2237C= (p.Ser746=) c.2282C= (p.Ser761=) | |
17 | g.745773G>T | CA397504186 | GEMIN4 | c.2270C>A (p.Ser757Tyr) c.2237C>A (p.Ser746Tyr) c.2282C>A (p.Ser761Tyr) | |
17 | g.745774A>C | CA397504187 | GEMIN4 | c.2269T>G (p.Ser757Ala) c.2236T>G (p.Ser746Ala) c.2281T>G (p.Ser761Ala) | |
17 | g.745774A>G | CA397504188 | GEMIN4 | c.2269T>C (p.Ser757Pro) c.2236T>C (p.Ser746Pro) c.2281T>C (p.Ser761Pro) | |
17 | g.745774A>T | CA397504189 | GEMIN4 | c.2269T>A (p.Ser757Thr) c.2236T>A (p.Ser746Thr) c.2281T>A (p.Ser761Thr) | |
17 | g.745775C>A | CA497384360 | GEMIN4 | c.2268G>T (p.Leu756=) c.2235G>T (p.Leu745=) c.2280G>T (p.Leu760=) | |
17 | g.745775C>G | CA497384361 | GEMIN4 | c.2268G>C (p.Leu756=) c.2235G>C (p.Leu745=) c.2280G>C (p.Leu760=) | |
17 | g.745775C>T | CA497384362 | GEMIN4 | c.2268G>A (p.Leu756=) c.2235G>A (p.Leu745=) c.2280G>A (p.Leu760=) | |
17 | g.745776A= | CA2242474409 | GEMIN4 | c.2267T= (p.Leu756=) c.2234T= (p.Leu745=) c.2279T= (p.Leu760=) | |
17 | g.745776A>C | CA397504190 | GEMIN4 | c.2267T>G (p.Leu756Arg) c.2234T>G (p.Leu745Arg) c.2279T>G (p.Leu760Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745776A>G | CA397504191 | GEMIN4 | c.2267T>C (p.Leu756Pro) c.2234T>C (p.Leu745Pro) c.2279T>C (p.Leu760Pro) | |
17 | g.745776A>T | CA397504192 | GEMIN4 | c.2267T>A (p.Leu756Gln) c.2234T>A (p.Leu745Gln) c.2279T>A (p.Leu760Gln) | |
17 | g.745777G>A | CA497384366 | GEMIN4 | c.2266C>T (p.Leu756=) c.2233C>T (p.Leu745=) c.2278C>T (p.Leu760=) | COSMIC COSMIC |
17 | g.745777G>C | CA397504193 | GEMIN4 | c.2266C>G (p.Leu756Val) c.2233C>G (p.Leu745Val) c.2278C>G (p.Leu760Val) | |
17 | g.745777G= | CA2242474410 | GEMIN4 | c.2266C= (p.Leu756=) c.2233C= (p.Leu745=) c.2278C= (p.Leu760=) | |
17 | g.745777G>T | CA8262447 | GEMIN4 | c.2266C>A (p.Leu756Met) c.2233C>A (p.Leu745Met) c.2278C>A (p.Leu760Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745778G>A | CA497384367 | GEMIN4 | c.2265C>T (p.Ser755=) c.2232C>T (p.Ser744=) c.2277C>T (p.Ser759=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745778G>C | CA497384368 | GEMIN4 | c.2265C>G (p.Ser755=) c.2232C>G (p.Ser744=) c.2277C>G (p.Ser759=) | gnomAD v4 |
17 | g.745778G= | CA2242474411 | GEMIN4 | c.2265C= (p.Ser755=) c.2232C= (p.Ser744=) c.2277C= (p.Ser759=) | |
17 | g.745778G>T | CA497384369 | GEMIN4 | c.2265C>A (p.Ser755=) c.2232C>A (p.Ser744=) c.2277C>A (p.Ser759=) | gnomAD v4 |
17 | g.745779G>A | CA8262448 | GEMIN4 | c.2264C>T (p.Ser755Phe) c.2231C>T (p.Ser744Phe) c.2276C>T (p.Ser759Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745779G>C | CA397504195 | GEMIN4 | c.2264C>G (p.Ser755Cys) c.2231C>G (p.Ser744Cys) c.2276C>G (p.Ser759Cys) | |
17 | g.745779G= | CA2242474412 | GEMIN4 | c.2264C= (p.Ser755=) c.2231C= (p.Ser744=) c.2276C= (p.Ser759=) | |
17 | g.745779G>T | CA397504194 | GEMIN4 | c.2264C>A (p.Ser755Tyr) c.2231C>A (p.Ser744Tyr) c.2276C>A (p.Ser759Tyr) | gnomAD v4 |
17 | g.745780A>C | CA397504196 | GEMIN4 | c.2263T>G (p.Ser755Ala) c.2230T>G (p.Ser744Ala) c.2275T>G (p.Ser759Ala) | |
17 | g.745780A>G | CA397504197 | GEMIN4 | c.2263T>C (p.Ser755Pro) c.2230T>C (p.Ser744Pro) c.2275T>C (p.Ser759Pro) | |
17 | g.745780A>T | CA397504198 | GEMIN4 | c.2263T>A (p.Ser755Thr) c.2230T>A (p.Ser744Thr) c.2275T>A (p.Ser759Thr) | |
17 | g.745781C>A | CA397504199 | GEMIN4 | c.2262G>T (p.Lys754Asn) c.2229G>T (p.Lys743Asn) c.2274G>T (p.Lys758Asn) | |
17 | g.745781C>G | CA397504200 | GEMIN4 | c.2262G>C (p.Lys754Asn) c.2229G>C (p.Lys743Asn) c.2274G>C (p.Lys758Asn) | |
17 | g.745781C>T | CA497384373 | GEMIN4 | c.2262G>A (p.Lys754=) c.2229G>A (p.Lys743=) c.2274G>A (p.Lys758=) | gnomAD v2 |
17 | g.745781_745782delinsCT | CA2242474413 | GEMIN4 | c.2261_2262delinsAG (p.Lys754=) c.2228_2229delinsAG (p.Lys743=) c.2273_2274delinsAG (p.Lys758=) | |
17 | g.745782T>A | CA397504201 | GEMIN4 | c.2261A>T (p.Lys754Met) c.2228A>T (p.Lys743Met) c.2273A>T (p.Lys758Met) | |
17 | g.745782T>C | CA397504202 | GEMIN4 | c.2261A>G (p.Lys754Arg) c.2228A>G (p.Lys743Arg) c.2273A>G (p.Lys758Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745782T>G | CA397504203 | GEMIN4 | c.2261A>C (p.Lys754Thr) c.2228A>C (p.Lys743Thr) c.2273A>C (p.Lys758Thr) | |
17 | g.745782T= | CA2242474414 | GEMIN4 | c.2261A= (p.Lys754=) c.2228A= (p.Lys743=) c.2273A= (p.Lys758=) | |
17 | g.745783del | CA624456767 | GEMIN4 | c.2261del (p.Lys754SerfsTer10) c.2228del (p.Lys743SerfsTer10) c.2273del (p.Lys758SerfsTer10) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745783T>A | CA397504204 | GEMIN4 | c.2260A>T (p.Lys754Ter) c.2227A>T (p.Lys743Ter) c.2272A>T (p.Lys758Ter) | |
17 | g.745783T>C | CA397504205 | GEMIN4 | c.2260A>G (p.Lys754Glu) c.2227A>G (p.Lys743Glu) c.2272A>G (p.Lys758Glu) | gnomAD v4 |
17 | g.745783T>G | CA397504206 | GEMIN4 | c.2260A>C (p.Lys754Gln) c.2227A>C (p.Lys743Gln) c.2272A>C (p.Lys758Gln) | |
17 | g.745784G>A | CA497384376 | GEMIN4 | c.2259C>T (p.Ile753=) c.2226C>T (p.Ile742=) c.2271C>T (p.Ile757=) | |
17 | g.745784G>C | CA397504207 | GEMIN4 | c.2259C>G (p.Ile753Met) c.2226C>G (p.Ile742Met) c.2271C>G (p.Ile757Met) | |
17 | g.745784G>T | CA497384377 | GEMIN4 | c.2259C>A (p.Ile753=) c.2226C>A (p.Ile742=) c.2271C>A (p.Ile757=) | gnomAD v4 |
17 | g.745785A>C | CA397504210 | GEMIN4 | c.2258T>G (p.Ile753Ser) c.2225T>G (p.Ile742Ser) c.2270T>G (p.Ile757Ser) | |
17 | g.745785A>G | CA397504209 | GEMIN4 | c.2258T>C (p.Ile753Thr) c.2225T>C (p.Ile742Thr) c.2270T>C (p.Ile757Thr) | |
17 | g.745785A>T | CA397504208 | GEMIN4 | c.2258T>A (p.Ile753Asn) c.2225T>A (p.Ile742Asn) c.2270T>A (p.Ile757Asn) | |
17 | g.745786T>A | CA397504211 | GEMIN4 | c.2257A>T (p.Ile753Phe) c.2224A>T (p.Ile742Phe) c.2269A>T (p.Ile757Phe) | |
17 | g.745786T>C | CA397504212 | GEMIN4 | c.2257A>G (p.Ile753Val) c.2224A>G (p.Ile742Val) c.2269A>G (p.Ile757Val) | dbSNP gnomAD v4 |
17 | g.745786T>G | CA397504213 | GEMIN4 | c.2257A>C (p.Ile753Leu) c.2224A>C (p.Ile742Leu) c.2269A>C (p.Ile757Leu) | |
17 | g.745786T= | CA2242474415 | GEMIN4 | c.2257A= (p.Ile753=) c.2224A= (p.Ile742=) c.2269A= (p.Ile757=) | |
17 | g.745787C>A | CA397504214 | GEMIN4 | c.2256G>T (p.Trp752Cys) c.2223G>T (p.Trp741Cys) c.2268G>T (p.Trp756Cys) | gnomAD v4 |
17 | g.745787C>G | CA397504215 | GEMIN4 | c.2256G>C (p.Trp752Cys) c.2223G>C (p.Trp741Cys) c.2268G>C (p.Trp756Cys) | |
17 | g.745787C>T | CA397504216 | GEMIN4 | c.2256G>A (p.Trp752Ter) c.2223G>A (p.Trp741Ter) c.2268G>A (p.Trp756Ter) | |
17 | g.745787_745788delinsTT | CA645586969 | GEMIN4 | c.2255_2256delinsAA (p.Trp752Ter) c.2222_2223delinsAA (p.Trp741Ter) c.2267_2268delinsAA (p.Trp756Ter) | COSMIC COSMIC |
17 | g.745788C>A | CA397504217 | GEMIN4 | c.2255G>T (p.Trp752Leu) c.2222G>T (p.Trp741Leu) c.2267G>T (p.Trp756Leu) | |
17 | g.745788C>G | CA397504218 | GEMIN4 | c.2255G>C (p.Trp752Ser) c.2222G>C (p.Trp741Ser) c.2267G>C (p.Trp756Ser) | |
17 | g.745788C>T | CA397504219 | GEMIN4 | c.2255G>A (p.Trp752Ter) c.2222G>A (p.Trp741Ter) c.2267G>A (p.Trp756Ter) | gnomAD v4 |
17 | g.745789A>C | CA397504220 | GEMIN4 | c.2254T>G (p.Trp752Gly) c.2221T>G (p.Trp741Gly) c.2266T>G (p.Trp756Gly) | |
17 | g.745789A>G | CA397504221 | GEMIN4 | c.2254T>C (p.Trp752Arg) c.2221T>C (p.Trp741Arg) c.2266T>C (p.Trp756Arg) | |
17 | g.745789A>T | CA397504222 | GEMIN4 | c.2254T>A (p.Trp752Arg) c.2221T>A (p.Trp741Arg) c.2266T>A (p.Trp756Arg) | |
17 | g.745790G>A | CA497384383 | GEMIN4 | c.2253C>T (p.Val751=) c.2220C>T (p.Val740=) c.2265C>T (p.Val755=) | |
17 | g.745790G>C | CA497384385 | GEMIN4 | c.2253C>G (p.Val751=) c.2220C>G (p.Val740=) c.2265C>G (p.Val755=) | |
17 | g.745790G>T | CA497384387 | GEMIN4 | c.2253C>A (p.Val751=) c.2220C>A (p.Val740=) c.2265C>A (p.Val755=) | |
17 | g.745791A>C | CA397504225 | GEMIN4 | c.2252T>G (p.Val751Gly) c.2219T>G (p.Val740Gly) c.2264T>G (p.Val755Gly) | |
17 | g.745791A>G | CA397504224 | GEMIN4 | c.2252T>C (p.Val751Ala) c.2219T>C (p.Val740Ala) c.2264T>C (p.Val755Ala) | |
17 | g.745791A>T | CA397504223 | GEMIN4 | c.2252T>A (p.Val751Asp) c.2219T>A (p.Val740Asp) c.2264T>A (p.Val755Asp) | |
17 | g.745792C>A | CA397504226 | GEMIN4 | c.2251G>T (p.Val751Phe) c.2218G>T (p.Val740Phe) c.2263G>T (p.Val755Phe) | |
17 | g.745792C>G | CA397504228 | GEMIN4 | c.2251G>C (p.Val751Leu) c.2218G>C (p.Val740Leu) c.2263G>C (p.Val755Leu) | |
17 | g.745792C>T | CA397504227 | GEMIN4 | c.2251G>A (p.Val751Ile) c.2218G>A (p.Val740Ile) c.2263G>A (p.Val755Ile) | gnomAD v4 |
17 | g.745793A>C | CA397504229 | GEMIN4 | c.2250T>G (p.Asp750Glu) c.2217T>G (p.Asp739Glu) c.2262T>G (p.Asp754Glu) | |
17 | g.745793A>G | CA497384388 | GEMIN4 | c.2250T>C (p.Asp750=) c.2217T>C (p.Asp739=) c.2262T>C (p.Asp754=) | |
17 | g.745793A>T | CA397504230 | GEMIN4 | c.2250T>A (p.Asp750Glu) c.2217T>A (p.Asp739Glu) c.2262T>A (p.Asp754Glu) | |
17 | g.745794T>A | CA397504231 | GEMIN4 | c.2249A>T (p.Asp750Val) c.2216A>T (p.Asp739Val) c.2261A>T (p.Asp754Val) | |
17 | g.745794T>C | CA397504232 | GEMIN4 | c.2249A>G (p.Asp750Gly) c.2216A>G (p.Asp739Gly) c.2261A>G (p.Asp754Gly) | |
17 | g.745794T>G | CA397504233 | GEMIN4 | c.2249A>C (p.Asp750Ala) c.2216A>C (p.Asp739Ala) c.2261A>C (p.Asp754Ala) | |
17 | g.745795C>A | CA397504234 | GEMIN4 | c.2248G>T (p.Asp750Tyr) c.2215G>T (p.Asp739Tyr) c.2260G>T (p.Asp754Tyr) | |
17 | g.745795C>G | CA397504235 | GEMIN4 | c.2248G>C (p.Asp750His) c.2215G>C (p.Asp739His) c.2260G>C (p.Asp754His) | |
17 | g.745795C>T | CA397504236 | GEMIN4 | c.2248G>A (p.Asp750Asn) c.2215G>A (p.Asp739Asn) c.2260G>A (p.Asp754Asn) | |
17 | g.745796C>A | CA497384391 | GEMIN4 | c.2247G>T (p.Pro749=) c.2214G>T (p.Pro738=) c.2259G>T (p.Pro753=) | gnomAD v4 |
17 | g.745796C= | CA2242474416 | GEMIN4 | c.2247G= (p.Pro749=) c.2214G= (p.Pro738=) c.2259G= (p.Pro753=) | |
17 | g.745796C>G | CA497384393 | GEMIN4 | c.2247G>C (p.Pro749=) c.2214G>C (p.Pro738=) c.2259G>C (p.Pro753=) | |
17 | g.745796C>T | CA8262449 | GEMIN4 | c.2247G>A (p.Pro749=) c.2214G>A (p.Pro738=) c.2259G>A (p.Pro753=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745797G>A | CA8262450 | GEMIN4 | c.2246C>T (p.Pro749Leu) c.2213C>T (p.Pro738Leu) c.2258C>T (p.Pro753Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745797G>C | CA397504237 | GEMIN4 | c.2246C>G (p.Pro749Arg) c.2213C>G (p.Pro738Arg) c.2258C>G (p.Pro753Arg) | gnomAD v4 |
17 | g.745797G= | CA2242474417 | GEMIN4 | c.2246C= (p.Pro749=) c.2213C= (p.Pro738=) c.2258C= (p.Pro753=) | |
17 | g.745797G>T | CA397504238 | GEMIN4 | c.2246C>A (p.Pro749Gln) c.2213C>A (p.Pro738Gln) c.2258C>A (p.Pro753Gln) | |
17 | g.745798G>A | CA397504240 | GEMIN4 | c.2245C>T (p.Pro749Ser) c.2212C>T (p.Pro738Ser) c.2257C>T (p.Pro753Ser) | dbSNP gnomAD v2 |
17 | g.745798G>C | CA8262451 | GEMIN4 | c.2245C>G (p.Pro749Ala) c.2212C>G (p.Pro738Ala) c.2257C>G (p.Pro753Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745798G= | CA2242474418 | GEMIN4 | c.2245C= (p.Pro749=) c.2212C= (p.Pro738=) c.2257C= (p.Pro753=) | |
17 | g.745798G>T | CA397504239 | GEMIN4 | c.2245C>A (p.Pro749Thr) c.2212C>A (p.Pro738Thr) c.2257C>A (p.Pro753Thr) | |
17 | g.745799G>A | CA497384396 | GEMIN4 | c.2244C>T (p.Ser748=) c.2211C>T (p.Ser737=) c.2256C>T (p.Ser752=) | dbSNP |
17 | g.745799G>C | CA497384397 | GEMIN4 | c.2244C>G (p.Ser748=) c.2211C>G (p.Ser737=) c.2256C>G (p.Ser752=) | |
17 | g.745799G= | CA2242474419 | GEMIN4 | c.2244C= (p.Ser748=) c.2211C= (p.Ser737=) c.2256C= (p.Ser752=) | |
17 | g.745799G>T | CA497384398 | GEMIN4 | c.2244C>A (p.Ser748=) c.2211C>A (p.Ser737=) c.2256C>A (p.Ser752=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745800G>A | CA397504241 | GEMIN4 | c.2243C>T (p.Ser748Phe) c.2210C>T (p.Ser737Phe) c.2255C>T (p.Ser752Phe) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745800G>C | CA397504242 | GEMIN4 | c.2243C>G (p.Ser748Cys) c.2210C>G (p.Ser737Cys) c.2255C>G (p.Ser752Cys) | gnomAD v4 |
17 | g.745800G= | CA2242474420 | GEMIN4 | c.2243C= (p.Ser748=) c.2210C= (p.Ser737=) c.2255C= (p.Ser752=) | |
17 | g.745800G>T | CA397504243 | GEMIN4 | c.2243C>A (p.Ser748Tyr) c.2210C>A (p.Ser737Tyr) c.2255C>A (p.Ser752Tyr) | |
17 | g.745801A>C | CA397504244 | GEMIN4 | c.2242T>G (p.Ser748Ala) c.2209T>G (p.Ser737Ala) c.2254T>G (p.Ser752Ala) | |
17 | g.745801A>G | CA397504245 | GEMIN4 | c.2242T>C (p.Ser748Pro) c.2209T>C (p.Ser737Pro) c.2254T>C (p.Ser752Pro) | |
17 | g.745801A>T | CA397504246 | GEMIN4 | c.2242T>A (p.Ser748Thr) c.2209T>A (p.Ser737Thr) c.2254T>A (p.Ser752Thr) | |
17 | g.745803_745805del | CA2635153094 | GEMIN4 | c.2240_2242del (p.Phe747del) c.2207_2209del (p.Phe736del) c.2252_2254del (p.Phe751del) | gnomAD v4 |
17 | g.745802G>A | CA497384402 | GEMIN4 | c.2241C>T (p.Phe747=) c.2208C>T (p.Phe736=) c.2253C>T (p.Phe751=) | |
17 | g.745802G>C | CA397504247 | GEMIN4 | c.2241C>G (p.Phe747Leu) c.2208C>G (p.Phe736Leu) c.2253C>G (p.Phe751Leu) | |
17 | g.745802G>T | CA397504248 | GEMIN4 | c.2241C>A (p.Phe747Leu) c.2208C>A (p.Phe736Leu) c.2253C>A (p.Phe751Leu) | |
17 | g.745803A>C | CA397504249 | GEMIN4 | c.2240T>G (p.Phe747Cys) c.2207T>G (p.Phe736Cys) c.2252T>G (p.Phe751Cys) | |
17 | g.745803A>G | CA397504250 | GEMIN4 | c.2240T>C (p.Phe747Ser) c.2207T>C (p.Phe736Ser) c.2252T>C (p.Phe751Ser) | |
17 | g.745803A>T | CA397504251 | GEMIN4 | c.2240T>A (p.Phe747Tyr) c.2207T>A (p.Phe736Tyr) c.2252T>A (p.Phe751Tyr) | |
17 | g.745804A= | CA2242474421 | GEMIN4 | c.2239T= (p.Phe747=) c.2206T= (p.Phe736=) c.2251T= (p.Phe751=) | |
17 | g.745804A>C | CA397504254 | GEMIN4 | c.2239T>G (p.Phe747Val) c.2206T>G (p.Phe736Val) c.2251T>G (p.Phe751Val) | |
17 | g.745804A>G | CA397504253 | GEMIN4 | c.2239T>C (p.Phe747Leu) c.2206T>C (p.Phe736Leu) c.2251T>C (p.Phe751Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745804A>T | CA397504252 | GEMIN4 | c.2239T>A (p.Phe747Ile) c.2206T>A (p.Phe736Ile) c.2251T>A (p.Phe751Ile) | gnomAD v4 |
17 | g.745805G>A | CA8262452 | GEMIN4 | c.2238C>T (p.Thr746=) c.2205C>T (p.Thr735=) c.2250C>T (p.Thr750=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745805G>C | CA497384407 | GEMIN4 | c.2238C>G (p.Thr746=) c.2205C>G (p.Thr735=) c.2250C>G (p.Thr750=) | |
17 | g.745805G= | CA2242474422 | GEMIN4 | c.2238C= (p.Thr746=) c.2205C= (p.Thr735=) c.2250C= (p.Thr750=) | |
17 | g.745805G>T | CA497384406 | GEMIN4 | c.2238C>A (p.Thr746=) c.2205C>A (p.Thr735=) c.2250C>A (p.Thr750=) | |
17 | g.745806G>A | CA397504255 | GEMIN4 | c.2237C>T (p.Thr746Ile) c.2204C>T (p.Thr735Ile) c.2249C>T (p.Thr750Ile) | gnomAD v4 |
17 | g.745806G>C | CA397504256 | GEMIN4 | c.2237C>G (p.Thr746Ser) c.2204C>G (p.Thr735Ser) c.2249C>G (p.Thr750Ser) | |
17 | g.745806G>T | CA397504257 | GEMIN4 | c.2237C>A (p.Thr746Asn) c.2204C>A (p.Thr735Asn) c.2249C>A (p.Thr750Asn) | gnomAD v4 |
17 | g.745807T>A | CA397504258 | GEMIN4 | c.2236A>T (p.Thr746Ser) c.2203A>T (p.Thr735Ser) c.2248A>T (p.Thr750Ser) | |
17 | g.745807T>C | CA397504259 | GEMIN4 | c.2236A>G (p.Thr746Ala) c.2203A>G (p.Thr735Ala) c.2248A>G (p.Thr750Ala) | |
17 | g.745807T>G | CA397504260 | GEMIN4 | c.2236A>C (p.Thr746Pro) c.2203A>C (p.Thr735Pro) c.2248A>C (p.Thr750Pro) | |
17 | g.745808C>A | CA397504261 | GEMIN4 | c.2235G>T (p.Glu745Asp) c.2202G>T (p.Glu734Asp) c.2247G>T (p.Glu749Asp) | |
17 | g.745808C= | CA2242474423 | GEMIN4 | c.2235G= (p.Glu745=) c.2202G= (p.Glu734=) c.2247G= (p.Glu749=) | |
17 | g.745808C>G | CA397504262 | GEMIN4 | c.2235G>C (p.Glu745Asp) c.2202G>C (p.Glu734Asp) c.2247G>C (p.Glu749Asp) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745808C>T | CA497384412 | GEMIN4 | c.2235G>A (p.Glu745=) c.2202G>A (p.Glu734=) c.2247G>A (p.Glu749=) | gnomAD v4 |
17 | g.745809T>A | CA397504263 | GEMIN4 | c.2234A>T (p.Glu745Val) c.2201A>T (p.Glu734Val) c.2246A>T (p.Glu749Val) | |
17 | g.745809T>C | CA397504264 | GEMIN4 | c.2234A>G (p.Glu745Gly) c.2201A>G (p.Glu734Gly) c.2246A>G (p.Glu749Gly) | |
17 | g.745809T>G | CA397504265 | GEMIN4 | c.2234A>C (p.Glu745Ala) c.2201A>C (p.Glu734Ala) c.2246A>C (p.Glu749Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745809T= | CA2242474424 | GEMIN4 | c.2234A= (p.Glu745=) c.2201A= (p.Glu734=) c.2246A= (p.Glu749=) | |
17 | g.745810C>A | CA397504267 | GEMIN4 | c.2233G>T (p.Glu745Ter) c.2200G>T (p.Glu734Ter) c.2245G>T (p.Glu749Ter) | |
17 | g.745810C= | CA2242474425 | GEMIN4 | c.2233G= (p.Glu745=) c.2200G= (p.Glu734=) c.2245G= (p.Glu749=) | |
17 | g.745810C>G | CA397504268 | GEMIN4 | c.2233G>C (p.Glu745Gln) c.2200G>C (p.Glu734Gln) c.2245G>C (p.Glu749Gln) | |
17 | g.745810C>T | CA397504266 | GEMIN4 | c.2233G>A (p.Glu745Lys) c.2200G>A (p.Glu734Lys) c.2245G>A (p.Glu749Lys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745811A>C | CA497384420 | GEMIN4 | c.2232T>G (p.Ala744=) c.2199T>G (p.Ala733=) c.2244T>G (p.Ala748=) | |
17 | g.745811A>G | CA497384419 | GEMIN4 | c.2232T>C (p.Ala744=) c.2199T>C (p.Ala733=) c.2244T>C (p.Ala748=) | gnomAD v4 |
17 | g.745811A>T | CA497384418 | GEMIN4 | c.2232T>A (p.Ala744=) c.2199T>A (p.Ala733=) c.2244T>A (p.Ala748=) | |
17 | g.745812G>A | CA397504269 | GEMIN4 | c.2231C>T (p.Ala744Val) c.2198C>T (p.Ala733Val) c.2243C>T (p.Ala748Val) | |
17 | g.745812G>C | CA397504270 | GEMIN4 | c.2231C>G (p.Ala744Gly) c.2198C>G (p.Ala733Gly) c.2243C>G (p.Ala748Gly) | gnomAD v4 |
17 | g.745812G>T | CA397504271 | GEMIN4 | c.2231C>A (p.Ala744Asp) c.2198C>A (p.Ala733Asp) c.2243C>A (p.Ala748Asp) |