Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.745674del | CA2635152822 | GEMIN4 | c.2373del (p.Phe791LeufsTer?) c.2340del (p.Phe780LeufsTer?) c.2385del (p.Phe795LeufsTer?) | gnomAD v4 |
17 | g.745673_745674del | CA2635152826 | GEMIN4 | c.2372_2373del (p.Phe791Ter) c.2339_2340del (p.Phe780Ter) c.2384_2385del (p.Phe795Ter) | gnomAD v4 |
17 | g.745673A= | CA2242474366 | GEMIN4 | c.2370T= (p.Leu790=) c.2337T= (p.Leu779=) c.2382T= (p.Leu794=) | |
17 | g.745673A>C | CA8262433 | GEMIN4 | c.2370T>G (p.Leu790=) c.2337T>G (p.Leu779=) c.2382T>G (p.Leu794=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745673A>G | CA497384012 | GEMIN4 | c.2370T>C (p.Leu790=) c.2337T>C (p.Leu779=) c.2382T>C (p.Leu794=) | |
17 | g.745673A>T | CA497384013 | GEMIN4 | c.2370T>A (p.Leu790=) c.2337T>A (p.Leu779=) c.2382T>A (p.Leu794=) | |
17 | g.745674A>C | CA397503967 | GEMIN4 | c.2369T>G (p.Leu790Arg) c.2336T>G (p.Leu779Arg) c.2381T>G (p.Leu794Arg) | |
17 | g.745674A>G | CA397503968 | GEMIN4 | c.2369T>C (p.Leu790Pro) c.2336T>C (p.Leu779Pro) c.2381T>C (p.Leu794Pro) | |
17 | g.745674A>T | CA397503969 | GEMIN4 | c.2369T>A (p.Leu790His) c.2336T>A (p.Leu779His) c.2381T>A (p.Leu794His) | |
17 | g.745675G>A | CA397503971 | GEMIN4 | c.2368C>T (p.Leu790Phe) c.2335C>T (p.Leu779Phe) c.2380C>T (p.Leu794Phe) | gnomAD v4 |
17 | g.745675G>C | CA397503972 | GEMIN4 | c.2368C>G (p.Leu790Val) c.2335C>G (p.Leu779Val) c.2380C>G (p.Leu794Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745675G= | CA2242474367 | GEMIN4 | c.2368C= (p.Leu790=) c.2335C= (p.Leu779=) c.2380C= (p.Leu794=) | |
17 | g.745675G>T | CA397503970 | GEMIN4 | c.2368C>A (p.Leu790Ile) c.2335C>A (p.Leu779Ile) c.2380C>A (p.Leu794Ile) | |
17 | g.745676T>A | CA497384026 | GEMIN4 | c.2367A>T (p.Thr789=) c.2334A>T (p.Thr778=) c.2379A>T (p.Thr793=) | |
17 | g.745676T>C | CA8262434 | GEMIN4 | c.2367A>G (p.Thr789=) c.2334A>G (p.Thr778=) c.2379A>G (p.Thr793=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745676T>G | CA497384029 | GEMIN4 | c.2367A>C (p.Thr789=) c.2334A>C (p.Thr778=) c.2379A>C (p.Thr793=) | |
17 | g.745676T= | CA2242474368 | GEMIN4 | c.2367A= (p.Thr789=) c.2334A= (p.Thr778=) c.2379A= (p.Thr793=) | |
17 | g.745677G>A | CA397503973 | GEMIN4 | c.2366C>T (p.Thr789Ile) c.2333C>T (p.Thr778Ile) c.2378C>T (p.Thr793Ile) | gnomAD v4 |
17 | g.745677G>C | CA397503974 | GEMIN4 | c.2366C>G (p.Thr789Arg) c.2333C>G (p.Thr778Arg) c.2378C>G (p.Thr793Arg) | |
17 | g.745677G>T | CA397503975 | GEMIN4 | c.2366C>A (p.Thr789Lys) c.2333C>A (p.Thr778Lys) c.2378C>A (p.Thr793Lys) | |
17 | g.745678T>A | CA397503978 | GEMIN4 | c.2365A>T (p.Thr789Ser) c.2332A>T (p.Thr778Ser) c.2377A>T (p.Thr793Ser) | |
17 | g.745678T>C | CA397503977 | GEMIN4 | c.2365A>G (p.Thr789Ala) c.2332A>G (p.Thr778Ala) c.2377A>G (p.Thr793Ala) | |
17 | g.745678T>G | CA397503976 | GEMIN4 | c.2365A>C (p.Thr789Pro) c.2332A>C (p.Thr778Pro) c.2377A>C (p.Thr793Pro) | |
17 | g.745679G>A | CA497384039 | GEMIN4 | c.2364C>T (p.Ala788=) c.2331C>T (p.Ala777=) c.2376C>T (p.Ala792=) | dbSNP gnomAD v2 |
17 | g.745679G>C | CA497384040 | GEMIN4 | c.2364C>G (p.Ala788=) c.2331C>G (p.Ala777=) c.2376C>G (p.Ala792=) | |
17 | g.745679G= | CA2242474369 | GEMIN4 | c.2364C= (p.Ala788=) c.2331C= (p.Ala777=) c.2376C= (p.Ala792=) | |
17 | g.745679G>T | CA497384041 | GEMIN4 | c.2364C>A (p.Ala788=) c.2331C>A (p.Ala777=) c.2376C>A (p.Ala792=) | |
17 | g.745680G>A | CA286713656 | GEMIN4 | c.2363C>T (p.Ala788Val) c.2330C>T (p.Ala777Val) c.2375C>T (p.Ala792Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745680G>C | CA397503979 | GEMIN4 | c.2363C>G (p.Ala788Gly) c.2330C>G (p.Ala777Gly) c.2375C>G (p.Ala792Gly) | |
17 | g.745680G= | CA2242474370 | GEMIN4 | c.2363C= (p.Ala788=) c.2330C= (p.Ala777=) c.2375C= (p.Ala792=) | |
17 | g.745680G>T | CA397503980 | GEMIN4 | c.2363C>A (p.Ala788Asp) c.2330C>A (p.Ala777Asp) c.2375C>A (p.Ala792Asp) | gnomAD v4 |
17 | g.745681C>A | CA397503981 | GEMIN4 | c.2362G>T (p.Ala788Ser) c.2329G>T (p.Ala777Ser) c.2374G>T (p.Ala792Ser) | |
17 | g.745681C= | CA2242474371 | GEMIN4 | c.2362G= (p.Ala788=) c.2329G= (p.Ala777=) c.2374G= (p.Ala792=) | |
17 | g.745681C>G | CA397503982 | GEMIN4 | c.2362G>C (p.Ala788Pro) c.2329G>C (p.Ala777Pro) c.2374G>C (p.Ala792Pro) | dbSNP |
17 | g.745681C>T | CA397503983 | GEMIN4 | c.2362G>A (p.Ala788Thr) c.2329G>A (p.Ala777Thr) c.2374G>A (p.Ala792Thr) | |
17 | g.745682T>A | CA497384045 | GEMIN4 | c.2361A>T (p.Pro787=) c.2328A>T (p.Pro776=) c.2373A>T (p.Pro791=) | |
17 | g.745682T>C | CA497384047 | GEMIN4 | c.2361A>G (p.Pro787=) c.2328A>G (p.Pro776=) c.2373A>G (p.Pro791=) | |
17 | g.745682T>G | CA497384046 | GEMIN4 | c.2361A>C (p.Pro787=) c.2328A>C (p.Pro776=) c.2373A>C (p.Pro791=) | |
17 | g.745683G>A | CA397503984 | GEMIN4 | c.2360C>T (p.Pro787Leu) c.2327C>T (p.Pro776Leu) c.2372C>T (p.Pro791Leu) | |
17 | g.745683G>C | CA397503986 | GEMIN4 | c.2360C>G (p.Pro787Arg) c.2327C>G (p.Pro776Arg) c.2372C>G (p.Pro791Arg) | |
17 | g.745683G>T | CA397503985 | GEMIN4 | c.2360C>A (p.Pro787Gln) c.2327C>A (p.Pro776Gln) c.2372C>A (p.Pro791Gln) | gnomAD v4 |
17 | g.745684G>A | CA397503987 | GEMIN4 | c.2359C>T (p.Pro787Ser) c.2326C>T (p.Pro776Ser) c.2371C>T (p.Pro791Ser) | gnomAD v4 |
17 | g.745684G>C | CA286713657 | GEMIN4 | c.2359C>G (p.Pro787Ala) c.2326C>G (p.Pro776Ala) c.2371C>G (p.Pro791Ala) | dbSNP gnomAD v4 |
17 | g.745684G= | CA2242474372 | GEMIN4 | c.2359C= (p.Pro787=) c.2326C= (p.Pro776=) c.2371C= (p.Pro791=) | |
17 | g.745684G>T | CA397503988 | GEMIN4 | c.2359C>A (p.Pro787Thr) c.2326C>A (p.Pro776Thr) c.2371C>A (p.Pro791Thr) | gnomAD v4 |
17 | g.745685C>A | CA497384056 | GEMIN4 | c.2358G>T (p.Val786=) c.2325G>T (p.Val775=) c.2370G>T (p.Val790=) | |
17 | g.745685C>G | CA497384058 | GEMIN4 | c.2358G>C (p.Val786=) c.2325G>C (p.Val775=) c.2370G>C (p.Val790=) | |
17 | g.745685C>T | CA497384061 | GEMIN4 | c.2358G>A (p.Val786=) c.2325G>A (p.Val775=) c.2370G>A (p.Val790=) | |
17 | g.745686A>C | CA397503989 | GEMIN4 | c.2357T>G (p.Val786Gly) c.2324T>G (p.Val775Gly) c.2369T>G (p.Val790Gly) | |
17 | g.745686A>G | CA397503990 | GEMIN4 | c.2357T>C (p.Val786Ala) c.2324T>C (p.Val775Ala) c.2369T>C (p.Val790Ala) | |
17 | g.745686A>T | CA397503991 | GEMIN4 | c.2357T>A (p.Val786Glu) c.2324T>A (p.Val775Glu) c.2369T>A (p.Val790Glu) | gnomAD v4 |
17 | g.745687C>A | CA397503994 | GEMIN4 | c.2356G>T (p.Val786Leu) c.2323G>T (p.Val775Leu) c.2368G>T (p.Val790Leu) | dbSNP gnomAD v4 |
17 | g.745687C= | CA2242474373 | GEMIN4 | c.2356G= (p.Val786=) c.2323G= (p.Val775=) c.2368G= (p.Val790=) | |
17 | g.745687C>G | CA397503992 | GEMIN4 | c.2356G>C (p.Val786Leu) c.2323G>C (p.Val775Leu) c.2368G>C (p.Val790Leu) | |
17 | g.745687C>T | CA397503993 | GEMIN4 | c.2356G>A (p.Val786Met) c.2323G>A (p.Val775Met) c.2368G>A (p.Val790Met) | |
17 | g.745688T>A | CA397503995 | GEMIN4 | c.2355A>T (p.Glu785Asp) c.2322A>T (p.Glu774Asp) c.2367A>T (p.Glu789Asp) | |
17 | g.745688T>C | CA497384076 | GEMIN4 | c.2355A>G (p.Glu785=) c.2322A>G (p.Glu774=) c.2367A>G (p.Glu789=) | dbSNP |
17 | g.745688T>G | CA8262435 | GEMIN4 | c.2355A>C (p.Glu785Asp) c.2322A>C (p.Glu774Asp) c.2367A>C (p.Glu789Asp) | dbSNP ExAC gnomAD v2 |
17 | g.745688T= | CA2242474374 | GEMIN4 | c.2355A= (p.Glu785=) c.2322A= (p.Glu774=) c.2367A= (p.Glu789=) | |
17 | g.745689T>A | CA397503996 | GEMIN4 | c.2354A>T (p.Glu785Val) c.2321A>T (p.Glu774Val) c.2366A>T (p.Glu789Val) | |
17 | g.745689T>C | CA397503997 | GEMIN4 | c.2354A>G (p.Glu785Gly) c.2321A>G (p.Glu774Gly) c.2366A>G (p.Glu789Gly) | |
17 | g.745689T>G | CA397503998 | GEMIN4 | c.2354A>C (p.Glu785Ala) c.2321A>C (p.Glu774Ala) c.2366A>C (p.Glu789Ala) | |
17 | g.745690C>A | CA397504001 | GEMIN4 | c.2353G>T (p.Glu785Ter) c.2320G>T (p.Glu774Ter) c.2365G>T (p.Glu789Ter) | gnomAD v4 |
17 | g.745690C= | CA2242474375 | GEMIN4 | c.2353G= (p.Glu785=) c.2320G= (p.Glu774=) c.2365G= (p.Glu789=) | |
17 | g.745690C>G | CA397503999 | GEMIN4 | c.2353G>C (p.Glu785Gln) c.2320G>C (p.Glu774Gln) c.2365G>C (p.Glu789Gln) | |
17 | g.745690C>T | CA397504000 | GEMIN4 | c.2353G>A (p.Glu785Lys) c.2320G>A (p.Glu774Lys) c.2365G>A (p.Glu789Lys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745691A>C | CA397504002 | GEMIN4 | c.2352T>G (p.Cys784Trp) c.2319T>G (p.Cys773Trp) c.2364T>G (p.Cys788Trp) | |
17 | g.745691A>G | CA497384091 | GEMIN4 | c.2352T>C (p.Cys784=) c.2319T>C (p.Cys773=) c.2364T>C (p.Cys788=) | |
17 | g.745691A>T | CA397504003 | GEMIN4 | c.2352T>A (p.Cys784Ter) c.2319T>A (p.Cys773Ter) c.2364T>A (p.Cys788Ter) | |
17 | g.745692del | CA2635152857 | GEMIN4 | c.2351del (p.Cys784LeufsTer?) c.2318del (p.Cys773LeufsTer?) c.2363del (p.Cys788LeufsTer?) | gnomAD v4 |
17 | g.745692C>A | CA397504004 | GEMIN4 | c.2351G>T (p.Cys784Phe) c.2318G>T (p.Cys773Phe) c.2363G>T (p.Cys788Phe) | |
17 | g.745692C>G | CA397504005 | GEMIN4 | c.2351G>C (p.Cys784Ser) c.2318G>C (p.Cys773Ser) c.2363G>C (p.Cys788Ser) | |
17 | g.745692C>T | CA397504006 | GEMIN4 | c.2351G>A (p.Cys784Tyr) c.2318G>A (p.Cys773Tyr) c.2363G>A (p.Cys788Tyr) | |
17 | g.745693A>C | CA397504007 | GEMIN4 | c.2350T>G (p.Cys784Gly) c.2317T>G (p.Cys773Gly) c.2362T>G (p.Cys788Gly) | |
17 | g.745693A>G | CA397504008 | GEMIN4 | c.2350T>C (p.Cys784Arg) c.2317T>C (p.Cys773Arg) c.2362T>C (p.Cys788Arg) | |
17 | g.745693A>T | CA397504009 | GEMIN4 | c.2350T>A (p.Cys784Ser) c.2317T>A (p.Cys773Ser) c.2362T>A (p.Cys788Ser) | |
17 | g.745694C>A | CA397504010 | GEMIN4 | c.2349G>T (p.Lys783Asn) c.2316G>T (p.Lys772Asn) c.2361G>T (p.Lys787Asn) | dbSNP gnomAD v2 |
17 | g.745694C= | CA2242474376 | GEMIN4 | c.2349G= (p.Lys783=) c.2316G= (p.Lys772=) c.2361G= (p.Lys787=) | |
17 | g.745694C>G | CA286713658 | GEMIN4 | c.2349G>C (p.Lys783Asn) c.2316G>C (p.Lys772Asn) c.2361G>C (p.Lys787Asn) | dbSNP gnomAD v4 |
17 | g.745694C>T | CA497384099 | GEMIN4 | c.2349G>A (p.Lys783=) c.2316G>A (p.Lys772=) c.2361G>A (p.Lys787=) | |
17 | g.745695T>A | CA397504011 | GEMIN4 | c.2348A>T (p.Lys783Met) c.2315A>T (p.Lys772Met) c.2360A>T (p.Lys787Met) | |
17 | g.745695T>C | CA397504012 | GEMIN4 | c.2348A>G (p.Lys783Arg) c.2315A>G (p.Lys772Arg) c.2360A>G (p.Lys787Arg) | dbSNP |
17 | g.745695T>G | CA397504013 | GEMIN4 | c.2348A>C (p.Lys783Thr) c.2315A>C (p.Lys772Thr) c.2360A>C (p.Lys787Thr) | |
17 | g.745695T= | CA2242474377 | GEMIN4 | c.2348A= (p.Lys783=) c.2315A= (p.Lys772=) c.2360A= (p.Lys787=) | |
17 | g.745695_745696insG | CA2635152867 | GEMIN4 | c.2347_2348insC (p.Lys783ThrfsTer3) c.2314_2315insC (p.Lys772ThrfsTer3) c.2359_2360insC (p.Lys787ThrfsTer3) | gnomAD v4 |
17 | g.745696T>A | CA397504014 | GEMIN4 | c.2347A>T (p.Lys783Ter) c.2314A>T (p.Lys772Ter) c.2359A>T (p.Lys787Ter) | |
17 | g.745696T>C | CA397504016 | GEMIN4 | c.2347A>G (p.Lys783Glu) c.2314A>G (p.Lys772Glu) c.2359A>G (p.Lys787Glu) | gnomAD v4 |
17 | g.745696T>G | CA397504015 | GEMIN4 | c.2347A>C (p.Lys783Gln) c.2314A>C (p.Lys772Gln) c.2359A>C (p.Lys787Gln) | |
17 | g.745697G>A | CA497384110 | GEMIN4 | c.2346C>T (p.Phe782=) c.2313C>T (p.Phe771=) c.2358C>T (p.Phe786=) | gnomAD v4 |
17 | g.745697G>C | CA8262436 | GEMIN4 | c.2346C>G (p.Phe782Leu) c.2313C>G (p.Phe771Leu) c.2358C>G (p.Phe786Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745697G= | CA2242474378 | GEMIN4 | c.2346C= (p.Phe782=) c.2313C= (p.Phe771=) c.2358C= (p.Phe786=) | |
17 | g.745697G>T | CA8262437 | GEMIN4 | c.2346C>A (p.Phe782Leu) c.2313C>A (p.Phe771Leu) c.2358C>A (p.Phe786Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745698A>C | CA397504017 | GEMIN4 | c.2345T>G (p.Phe782Cys) c.2312T>G (p.Phe771Cys) c.2357T>G (p.Phe786Cys) | |
17 | g.745698A>G | CA397504018 | GEMIN4 | c.2345T>C (p.Phe782Ser) c.2312T>C (p.Phe771Ser) c.2357T>C (p.Phe786Ser) | |
17 | g.745698A>T | CA397504019 | GEMIN4 | c.2345T>A (p.Phe782Tyr) c.2312T>A (p.Phe771Tyr) c.2357T>A (p.Phe786Tyr) | |
17 | g.745699A>C | CA397504020 | GEMIN4 | c.2344T>G (p.Phe782Val) c.2311T>G (p.Phe771Val) c.2356T>G (p.Phe786Val) | |
17 | g.745699A>G | CA397504021 | GEMIN4 | c.2344T>C (p.Phe782Leu) c.2311T>C (p.Phe771Leu) c.2356T>C (p.Phe786Leu) | |
17 | g.745699A>T | CA397504022 | GEMIN4 | c.2344T>A (p.Phe782Ile) c.2311T>A (p.Phe771Ile) c.2356T>A (p.Phe786Ile) | |
17 | g.745700G>A | CA497384126 | GEMIN4 | c.2343C>T (p.His781=) c.2310C>T (p.His770=) c.2355C>T (p.His785=) | |
17 | g.745700G>C | CA397504023 | GEMIN4 | c.2343C>G (p.His781Gln) c.2310C>G (p.His770Gln) c.2355C>G (p.His785Gln) | |
17 | g.745700G>T | CA397504024 | GEMIN4 | c.2343C>A (p.His781Gln) c.2310C>A (p.His770Gln) c.2355C>A (p.His785Gln) | |
17 | g.745701T>A | CA397504025 | GEMIN4 | c.2342A>T (p.His781Leu) c.2309A>T (p.His770Leu) c.2354A>T (p.His785Leu) | gnomAD v4 |
17 | g.745701T>C | CA397504026 | GEMIN4 | c.2342A>G (p.His781Arg) c.2309A>G (p.His770Arg) c.2354A>G (p.His785Arg) | gnomAD v4 |
17 | g.745701T>G | CA397504027 | GEMIN4 | c.2342A>C (p.His781Pro) c.2309A>C (p.His770Pro) c.2354A>C (p.His785Pro) | |
17 | g.745702G>A | CA397504028 | GEMIN4 | c.2341C>T (p.His781Tyr) c.2308C>T (p.His770Tyr) c.2353C>T (p.His785Tyr) | gnomAD v4 |
17 | g.745702G>C | CA397504030 | GEMIN4 | c.2341C>G (p.His781Asp) c.2308C>G (p.His770Asp) c.2353C>G (p.His785Asp) | |
17 | g.745702G>T | CA397504029 | GEMIN4 | c.2341C>A (p.His781Asn) c.2308C>A (p.His770Asn) c.2353C>A (p.His785Asn) | |
17 | g.745703C>A | CA497384141 | GEMIN4 | c.2340G>T (p.Gly780=) c.2307G>T (p.Gly769=) c.2352G>T (p.Gly784=) | |
17 | g.745703C= | CA2242474379 | GEMIN4 | c.2340G= (p.Gly780=) c.2307G= (p.Gly769=) c.2352G= (p.Gly784=) | |
17 | g.745703C>G | CA497384140 | GEMIN4 | c.2340G>C (p.Gly780=) c.2307G>C (p.Gly769=) c.2352G>C (p.Gly784=) | dbSNP gnomAD v4 |
17 | g.745703C>T | CA497384139 | GEMIN4 | c.2340G>A (p.Gly780=) c.2307G>A (p.Gly769=) c.2352G>A (p.Gly784=) | gnomAD v4 |
17 | g.745704C>A | CA397504031 | GEMIN4 | c.2339G>T (p.Gly780Val) c.2306G>T (p.Gly769Val) c.2351G>T (p.Gly784Val) | |
17 | g.745704C= | CA2242474380 | GEMIN4 | c.2339G= (p.Gly780=) c.2306G= (p.Gly769=) c.2351G= (p.Gly784=) | |
17 | g.745704C>G | CA397504032 | GEMIN4 | c.2339G>C (p.Gly780Ala) c.2306G>C (p.Gly769Ala) c.2351G>C (p.Gly784Ala) | |
17 | g.745704C>T | CA397504033 | GEMIN4 | c.2339G>A (p.Gly780Glu) c.2306G>A (p.Gly769Glu) c.2351G>A (p.Gly784Glu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745705C>A | CA397504034 | GEMIN4 | c.2338G>T (p.Gly780Trp) c.2305G>T (p.Gly769Trp) c.2350G>T (p.Gly784Trp) | gnomAD v4 |
17 | g.745705C= | CA2242474381 | GEMIN4 | c.2338G= (p.Gly780=) c.2305G= (p.Gly769=) c.2350G= (p.Gly784=) | |
17 | g.745705C>G | CA397504035 | GEMIN4 | c.2338G>C (p.Gly780Arg) c.2305G>C (p.Gly769Arg) c.2350G>C (p.Gly784Arg) | |
17 | g.745705C>T | CA397504036 | GEMIN4 | c.2338G>A (p.Gly780Arg) c.2305G>A (p.Gly769Arg) c.2350G>A (p.Gly784Arg) | dbSNP |
17 | g.745706C>A | CA397504037 | GEMIN4 | c.2337G>T (p.Glu779Asp) c.2304G>T (p.Glu768Asp) c.2349G>T (p.Glu783Asp) | |
17 | g.745706C>G | CA397504038 | GEMIN4 | c.2337G>C (p.Glu779Asp) c.2304G>C (p.Glu768Asp) c.2349G>C (p.Glu783Asp) | |
17 | g.745706C>T | CA497384153 | GEMIN4 | c.2337G>A (p.Glu779=) c.2304G>A (p.Glu768=) c.2349G>A (p.Glu783=) | |
17 | g.745707T>A | CA397504039 | GEMIN4 | c.2336A>T (p.Glu779Val) c.2303A>T (p.Glu768Val) c.2348A>T (p.Glu783Val) | |
17 | g.745707T>C | CA397504040 | GEMIN4 | c.2336A>G (p.Glu779Gly) c.2303A>G (p.Glu768Gly) c.2348A>G (p.Glu783Gly) | gnomAD v4 |
17 | g.745707T>G | CA397504041 | GEMIN4 | c.2336A>C (p.Glu779Ala) c.2303A>C (p.Glu768Ala) c.2348A>C (p.Glu783Ala) | |
17 | g.745708C>A | CA397504042 | GEMIN4 | c.2335G>T (p.Glu779Ter) c.2302G>T (p.Glu768Ter) c.2347G>T (p.Glu783Ter) | gnomAD v4 |
17 | g.745708C= | CA2242474382 | GEMIN4 | c.2335G= (p.Glu779=) c.2302G= (p.Glu768=) c.2347G= (p.Glu783=) | |
17 | g.745708C>G | CA397504043 | GEMIN4 | c.2335G>C (p.Glu779Gln) c.2302G>C (p.Glu768Gln) c.2347G>C (p.Glu783Gln) | |
17 | g.745708C>T | CA8262438 | GEMIN4 | c.2335G>A (p.Glu779Lys) c.2302G>A (p.Glu768Lys) c.2347G>A (p.Glu783Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745709G>A | CA497384168 | GEMIN4 | c.2334C>T (p.Phe778=) c.2301C>T (p.Phe767=) c.2346C>T (p.Phe782=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745709G>C | CA397504045 | GEMIN4 | c.2334C>G (p.Phe778Leu) c.2301C>G (p.Phe767Leu) c.2346C>G (p.Phe782Leu) | gnomAD v4 |
17 | g.745709G= | CA2242474383 | GEMIN4 | c.2334C= (p.Phe778=) c.2301C= (p.Phe767=) c.2346C= (p.Phe782=) | |
17 | g.745709G>T | CA397504044 | GEMIN4 | c.2334C>A (p.Phe778Leu) c.2301C>A (p.Phe767Leu) c.2346C>A (p.Phe782Leu) | |
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.745710A>C | CA397504046 | GEMIN4 | c.2333T>G (p.Phe778Cys) c.2300T>G (p.Phe767Cys) c.2345T>G (p.Phe782Cys) | |
17 | g.745710A>G | CA397504047 | GEMIN4 | c.2333T>C (p.Phe778Ser) c.2300T>C (p.Phe767Ser) c.2345T>C (p.Phe782Ser) | gnomAD v4 |
17 | g.745710A>T | CA397504048 | GEMIN4 | c.2333T>A (p.Phe778Tyr) c.2300T>A (p.Phe767Tyr) c.2345T>A (p.Phe782Tyr) | |
17 | g.745711A= | CA2242474384 | GEMIN4 | c.2332T= (p.Phe778=) c.2299T= (p.Phe767=) c.2344T= (p.Phe782=) | |
17 | g.745711A>C | CA397504049 | GEMIN4 | c.2332T>G (p.Phe778Val) c.2299T>G (p.Phe767Val) c.2344T>G (p.Phe782Val) | gnomAD v4 |
17 | g.745711A>G | CA8262439 | GEMIN4 | c.2332T>C (p.Phe778Leu) c.2299T>C (p.Phe767Leu) c.2344T>C (p.Phe782Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745711A>T | CA397504050 | GEMIN4 | c.2332T>A (p.Phe778Ile) c.2299T>A (p.Phe767Ile) c.2344T>A (p.Phe782Ile) | |
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) |