Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.745630C>A | CA397503865 | GEMIN4 | c.2413G>T (p.Ala805Ser) c.2380G>T (p.Ala794Ser) c.2425G>T (p.Ala809Ser) | gnomAD v4 |
17 | g.745630C= | CA2242474350 | GEMIN4 | c.2413G= (p.Ala805=) c.2380G= (p.Ala794=) c.2425G= (p.Ala809=) | |
17 | g.745630C>G | CA397503866 | GEMIN4 | c.2413G>C (p.Ala805Pro) c.2380G>C (p.Ala794Pro) c.2425G>C (p.Ala809Pro) | |
17 | g.745630C>T | CA8262426 | GEMIN4 | c.2413G>A (p.Ala805Thr) c.2380G>A (p.Ala794Thr) c.2425G>A (p.Ala809Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745631C>A | CA397503867 | GEMIN4 | c.2412G>T (p.Gln804His) c.2379G>T (p.Gln793His) c.2424G>T (p.Gln808His) | gnomAD v4 |
17 | g.745631C= | CA2242474351 | GEMIN4 | c.2412G= (p.Gln804=) c.2379G= (p.Gln793=) c.2424G= (p.Gln808=) | |
17 | g.745631C>G | CA397503868 | GEMIN4 | c.2412G>C (p.Gln804His) c.2379G>C (p.Gln793His) c.2424G>C (p.Gln808His) | |
17 | g.745631C>T | CA497383886 | GEMIN4 | c.2412G>A (p.Gln804=) c.2379G>A (p.Gln793=) c.2424G>A (p.Gln808=) | dbSNP gnomAD v4 |
17 | g.745632T>A | CA397503870 | GEMIN4 | c.2411A>T (p.Gln804Leu) c.2378A>T (p.Gln793Leu) c.2423A>T (p.Gln808Leu) | |
17 | g.745632T>C | CA397503871 | GEMIN4 | c.2411A>G (p.Gln804Arg) c.2378A>G (p.Gln793Arg) c.2423A>G (p.Gln808Arg) | COSMIC COSMIC |
17 | g.745632T>G | CA397503869 | GEMIN4 | c.2411A>C (p.Gln804Pro) c.2378A>C (p.Gln793Pro) c.2423A>C (p.Gln808Pro) | gnomAD v4 |
17 | g.745633G>A | CA397503872 | GEMIN4 | c.2410C>T (p.Gln804Ter) c.2377C>T (p.Gln793Ter) c.2422C>T (p.Gln808Ter) | |
17 | g.745633G>C | CA397503874 | GEMIN4 | c.2410C>G (p.Gln804Glu) c.2377C>G (p.Gln793Glu) c.2422C>G (p.Gln808Glu) | gnomAD v4 |
17 | g.745633G>T | CA397503873 | GEMIN4 | c.2410C>A (p.Gln804Lys) c.2377C>A (p.Gln793Lys) c.2422C>A (p.Gln808Lys) | |
17 | g.745635dup | CA2839190368 | GEMIN4 | c.2410dup (p.Gln804ProfsTer?) c.2377dup (p.Gln793ProfsTer?) c.2422dup (p.Gln808ProfsTer?) | |
17 | g.745634G>A | CA497383890 | GEMIN4 | c.2409C>T (p.Ser803=) c.2376C>T (p.Ser792=) c.2421C>T (p.Ser807=) | gnomAD v4 |
17 | g.745634G>C | CA497383891 | GEMIN4 | c.2409C>G (p.Ser803=) c.2376C>G (p.Ser792=) c.2421C>G (p.Ser807=) | |
17 | g.745634G>T | CA497383889 | GEMIN4 | c.2409C>A (p.Ser803=) c.2376C>A (p.Ser792=) c.2421C>A (p.Ser807=) | |
17 | g.745635G>A | CA397503875 | GEMIN4 | c.2408C>T (p.Ser803Phe) c.2375C>T (p.Ser792Phe) c.2420C>T (p.Ser807Phe) | gnomAD v4 |
17 | g.745635G>C | CA397503876 | GEMIN4 | c.2408C>G (p.Ser803Cys) c.2375C>G (p.Ser792Cys) c.2420C>G (p.Ser807Cys) | |
17 | g.745635G>T | CA397503877 | GEMIN4 | c.2408C>A (p.Ser803Tyr) c.2375C>A (p.Ser792Tyr) c.2420C>A (p.Ser807Tyr) | |
17 | g.745636A= | CA2242474352 | GEMIN4 | c.2407T= (p.Ser803=) c.2374T= (p.Ser792=) c.2419T= (p.Ser807=) | |
17 | g.745636A>C | CA397503878 | GEMIN4 | c.2407T>G (p.Ser803Ala) c.2374T>G (p.Ser792Ala) c.2419T>G (p.Ser807Ala) | |
17 | g.745636A>G | CA397503879 | GEMIN4 | c.2407T>C (p.Ser803Pro) c.2374T>C (p.Ser792Pro) c.2419T>C (p.Ser807Pro) | dbSNP |
17 | g.745636A>T | CA397503880 | GEMIN4 | c.2407T>A (p.Ser803Thr) c.2374T>A (p.Ser792Thr) c.2419T>A (p.Ser807Thr) | |
17 | g.745637G>A | CA497383909 | GEMIN4 | c.2406C>T (p.Thr802=) c.2373C>T (p.Thr791=) c.2418C>T (p.Thr806=) | |
17 | g.745637G>C | CA497383907 | GEMIN4 | c.2406C>G (p.Thr802=) c.2373C>G (p.Thr791=) c.2418C>G (p.Thr806=) | |
17 | g.745637G>T | CA497383903 | GEMIN4 | c.2406C>A (p.Thr802=) c.2373C>A (p.Thr791=) c.2418C>A (p.Thr806=) | |
17 | g.745638G>A | CA397503881 | GEMIN4 | c.2405C>T (p.Thr802Ile) c.2372C>T (p.Thr791Ile) c.2417C>T (p.Thr806Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745638G>C | CA397503882 | GEMIN4 | c.2405C>G (p.Thr802Ser) c.2372C>G (p.Thr791Ser) c.2417C>G (p.Thr806Ser) | |
17 | g.745638G= | CA2242474353 | GEMIN4 | c.2405C= (p.Thr802=) c.2372C= (p.Thr791=) c.2417C= (p.Thr806=) | |
17 | g.745638G>T | CA397503883 | GEMIN4 | c.2405C>A (p.Thr802Asn) c.2372C>A (p.Thr791Asn) c.2417C>A (p.Thr806Asn) | |
17 | g.745639T>A | CA397503884 | GEMIN4 | c.2404A>T (p.Thr802Ser) c.2371A>T (p.Thr791Ser) c.2416A>T (p.Thr806Ser) | |
17 | g.745639T>C | CA397503885 | GEMIN4 | c.2404A>G (p.Thr802Ala) c.2371A>G (p.Thr791Ala) c.2416A>G (p.Thr806Ala) | dbSNP |
17 | g.745639T>G | CA397503886 | GEMIN4 | c.2404A>C (p.Thr802Pro) c.2371A>C (p.Thr791Pro) c.2416A>C (p.Thr806Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745639T= | CA2242474354 | GEMIN4 | c.2404A= (p.Thr802=) c.2371A= (p.Thr791=) c.2416A= (p.Thr806=) | |
17 | g.745640C>A | CA397503887 | GEMIN4 | c.2403G>T (p.Trp801Cys) c.2370G>T (p.Trp790Cys) c.2415G>T (p.Trp805Cys) | |
17 | g.745640C>G | CA397503889 | GEMIN4 | c.2403G>C (p.Trp801Cys) c.2370G>C (p.Trp790Cys) c.2415G>C (p.Trp805Cys) | |
17 | g.745640C>T | CA397503888 | GEMIN4 | c.2403G>A (p.Trp801Ter) c.2370G>A (p.Trp790Ter) c.2415G>A (p.Trp805Ter) | |
17 | g.745641C>A | CA397503890 | GEMIN4 | c.2402G>T (p.Trp801Leu) c.2369G>T (p.Trp790Leu) c.2414G>T (p.Trp805Leu) | |
17 | g.745641C>G | CA397503891 | GEMIN4 | c.2402G>C (p.Trp801Ser) c.2369G>C (p.Trp790Ser) c.2414G>C (p.Trp805Ser) | |
17 | g.745641C>T | CA397503892 | GEMIN4 | c.2402G>A (p.Trp801Ter) c.2369G>A (p.Trp790Ter) c.2414G>A (p.Trp805Ter) | |
17 | g.745642A>C | CA397503893 | GEMIN4 | c.2401T>G (p.Trp801Gly) c.2368T>G (p.Trp790Gly) c.2413T>G (p.Trp805Gly) | |
17 | g.745642A>G | CA397503894 | GEMIN4 | c.2401T>C (p.Trp801Arg) c.2368T>C (p.Trp790Arg) c.2413T>C (p.Trp805Arg) | gnomAD v4 |
17 | g.745642A>T | CA397503895 | GEMIN4 | c.2401T>A (p.Trp801Arg) c.2368T>A (p.Trp790Arg) c.2413T>A (p.Trp805Arg) | |
17 | g.745643C>A | CA397503896 | GEMIN4 | c.2400G>T (p.Glu800Asp) c.2367G>T (p.Glu789Asp) c.2412G>T (p.Glu804Asp) | |
17 | g.745643C= | CA2242474355 | GEMIN4 | c.2400G= (p.Glu800=) c.2367G= (p.Glu789=) c.2412G= (p.Glu804=) | |
17 | g.745643C>G | CA397503897 | GEMIN4 | c.2400G>C (p.Glu800Asp) c.2367G>C (p.Glu789Asp) c.2412G>C (p.Glu804Asp) | |
17 | g.745643C>T | CA8262427 | GEMIN4 | c.2400G>A (p.Glu800=) c.2367G>A (p.Glu789=) c.2412G>A (p.Glu804=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745644T>A | CA397503900 | GEMIN4 | c.2399A>T (p.Glu800Val) c.2366A>T (p.Glu789Val) c.2411A>T (p.Glu804Val) | |
17 | g.745644T>C | CA397503899 | GEMIN4 | c.2399A>G (p.Glu800Gly) c.2366A>G (p.Glu789Gly) c.2411A>G (p.Glu804Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745644T>G | CA397503898 | GEMIN4 | c.2399A>C (p.Glu800Ala) c.2366A>C (p.Glu789Ala) c.2411A>C (p.Glu804Ala) | |
17 | g.745644T= | CA2242474356 | GEMIN4 | c.2399A= (p.Glu800=) c.2366A= (p.Glu789=) c.2411A= (p.Glu804=) | |
17 | g.745645C>A | CA397503901 | GEMIN4 | c.2398G>T (p.Glu800Ter) c.2365G>T (p.Glu789Ter) c.2410G>T (p.Glu804Ter) | |
17 | g.745645C= | CA2242474357 | GEMIN4 | c.2398G= (p.Glu800=) c.2365G= (p.Glu789=) c.2410G= (p.Glu804=) | |
17 | g.745645C>G | CA397503902 | GEMIN4 | c.2398G>C (p.Glu800Gln) c.2365G>C (p.Glu789Gln) c.2410G>C (p.Glu804Gln) | |
17 | g.745645C>T | CA286713655 | GEMIN4 | c.2398G>A (p.Glu800Lys) c.2365G>A (p.Glu789Lys) c.2410G>A (p.Glu804Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.745646G>A | CA8262428 | GEMIN4 | c.2397C>T (p.Asp799=) c.2364C>T (p.Asp788=) c.2409C>T (p.Asp803=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745646G>C | CA397503903 | GEMIN4 | c.2397C>G (p.Asp799Glu) c.2364C>G (p.Asp788Glu) c.2409C>G (p.Asp803Glu) | |
17 | g.745646G= | CA2242474358 | GEMIN4 | c.2397C= (p.Asp799=) c.2364C= (p.Asp788=) c.2409C= (p.Asp803=) | |
17 | g.745646G>T | CA397503904 | GEMIN4 | c.2397C>A (p.Asp799Glu) c.2364C>A (p.Asp788Glu) c.2409C>A (p.Asp803Glu) | |
17 | g.745647T>A | CA397503905 | GEMIN4 | c.2396A>T (p.Asp799Val) c.2363A>T (p.Asp788Val) c.2408A>T (p.Asp803Val) | |
17 | g.745647T>C | CA397503906 | GEMIN4 | c.2396A>G (p.Asp799Gly) c.2363A>G (p.Asp788Gly) c.2408A>G (p.Asp803Gly) | |
17 | g.745647T>G | CA397503907 | GEMIN4 | c.2396A>C (p.Asp799Ala) c.2363A>C (p.Asp788Ala) c.2408A>C (p.Asp803Ala) | |
17 | g.745648C>A | CA397503908 | GEMIN4 | c.2395G>T (p.Asp799Tyr) c.2362G>T (p.Asp788Tyr) c.2407G>T (p.Asp803Tyr) | |
17 | g.745648C>G | CA397503909 | GEMIN4 | c.2395G>C (p.Asp799His) c.2362G>C (p.Asp788His) c.2407G>C (p.Asp803His) | |
17 | g.745648C>T | CA397503910 | GEMIN4 | c.2395G>A (p.Asp799Asn) c.2362G>A (p.Asp788Asn) c.2407G>A (p.Asp803Asn) | gnomAD v4 |
17 | g.745649T>A | CA397503912 | GEMIN4 | c.2394A>T (p.Glu798Asp) c.2361A>T (p.Glu787Asp) c.2406A>T (p.Glu802Asp) | gnomAD v4 |
17 | g.745649T>C | CA497383932 | GEMIN4 | c.2394A>G (p.Glu798=) c.2361A>G (p.Glu787=) c.2406A>G (p.Glu802=) | |
17 | g.745649T>G | CA397503911 | GEMIN4 | c.2394A>C (p.Glu798Asp) c.2361A>C (p.Glu787Asp) c.2406A>C (p.Glu802Asp) | |
17 | g.745650T>A | CA397503913 | GEMIN4 | c.2393A>T (p.Glu798Val) c.2360A>T (p.Glu787Val) c.2405A>T (p.Glu802Val) | |
17 | g.745650T>C | CA397503914 | GEMIN4 | c.2393A>G (p.Glu798Gly) c.2360A>G (p.Glu787Gly) c.2405A>G (p.Glu802Gly) | |
17 | g.745650T>G | CA397503915 | GEMIN4 | c.2393A>C (p.Glu798Ala) c.2360A>C (p.Glu787Ala) c.2405A>C (p.Glu802Ala) | |
17 | g.745651C>A | CA397503916 | GEMIN4 | c.2392G>T (p.Glu798Ter) c.2359G>T (p.Glu787Ter) c.2404G>T (p.Glu802Ter) | |
17 | g.745651C>G | CA397503917 | GEMIN4 | c.2392G>C (p.Glu798Gln) c.2359G>C (p.Glu787Gln) c.2404G>C (p.Glu802Gln) | |
17 | g.745651C>T | CA397503918 | GEMIN4 | c.2392G>A (p.Glu798Lys) c.2359G>A (p.Glu787Lys) c.2404G>A (p.Glu802Lys) | |
17 | g.745652T>A | CA497383936 | GEMIN4 | c.2391A>T (p.Ser797=) c.2358A>T (p.Ser786=) c.2403A>T (p.Ser801=) | |
17 | g.745652T>C | CA497383937 | GEMIN4 | c.2391A>G (p.Ser797=) c.2358A>G (p.Ser786=) c.2403A>G (p.Ser801=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745652T>G | CA497383939 | GEMIN4 | c.2391A>C (p.Ser797=) c.2358A>C (p.Ser786=) c.2403A>C (p.Ser801=) | |
17 | g.745652T= | CA2242474359 | GEMIN4 | c.2391A= (p.Ser797=) c.2358A= (p.Ser786=) c.2403A= (p.Ser801=) | |
17 | g.745653G>A | CA8262429 | GEMIN4 | c.2390C>T (p.Ser797Leu) c.2357C>T (p.Ser786Leu) c.2402C>T (p.Ser801Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745653G>C | CA397503919 | GEMIN4 | c.2390C>G (p.Ser797Ter) c.2357C>G (p.Ser786Ter) c.2402C>G (p.Ser801Ter) | |
17 | g.745653G= | CA2242474360 | GEMIN4 | c.2390C= (p.Ser797=) c.2357C= (p.Ser786=) c.2402C= (p.Ser801=) | |
17 | g.745653G>T | CA397503920 | GEMIN4 | c.2390C>A (p.Ser797Ter) c.2357C>A (p.Ser786Ter) c.2402C>A (p.Ser801Ter) | gnomAD v4 |
17 | g.745654A>C | CA397503921 | GEMIN4 | c.2389T>G (p.Ser797Ala) c.2356T>G (p.Ser786Ala) c.2401T>G (p.Ser801Ala) | |
17 | g.745654A>G | CA397503922 | GEMIN4 | c.2389T>C (p.Ser797Pro) c.2356T>C (p.Ser786Pro) c.2401T>C (p.Ser801Pro) | |
17 | g.745654A>T | CA397503923 | GEMIN4 | c.2389T>A (p.Ser797Thr) c.2356T>A (p.Ser786Thr) c.2401T>A (p.Ser801Thr) | |
17 | g.745655A= | CA2242474361 | GEMIN4 | c.2388T= (p.Leu796=) c.2355T= (p.Leu785=) c.2400T= (p.Leu800=) | |
17 | g.745655A>C | CA497383943 | GEMIN4 | c.2388T>G (p.Leu796=) c.2355T>G (p.Leu785=) c.2400T>G (p.Leu800=) | dbSNP |
17 | g.745655A>G | CA8262430 | GEMIN4 | c.2388T>C (p.Leu796=) c.2355T>C (p.Leu785=) c.2400T>C (p.Leu800=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745655A>T | CA497383944 | GEMIN4 | c.2388T>A (p.Leu796=) c.2355T>A (p.Leu785=) c.2400T>A (p.Leu800=) | |
17 | g.745656A>C | CA397503925 | GEMIN4 | c.2387T>G (p.Leu796Arg) c.2354T>G (p.Leu785Arg) c.2399T>G (p.Leu800Arg) | |
17 | g.745656A>G | CA397503926 | GEMIN4 | c.2387T>C (p.Leu796Pro) c.2354T>C (p.Leu785Pro) c.2399T>C (p.Leu800Pro) | |
17 | g.745656A>T | CA397503924 | GEMIN4 | c.2387T>A (p.Leu796His) c.2354T>A (p.Leu785His) c.2399T>A (p.Leu800His) | |
17 | g.745657G>A | CA397503927 | GEMIN4 | c.2386C>T (p.Leu796Phe) c.2353C>T (p.Leu785Phe) c.2398C>T (p.Leu800Phe) | |
17 | g.745657G>C | CA397503928 | GEMIN4 | c.2386C>G (p.Leu796Val) c.2353C>G (p.Leu785Val) c.2398C>G (p.Leu800Val) | |
17 | g.745657G>T | CA397503929 | GEMIN4 | c.2386C>A (p.Leu796Ile) c.2353C>A (p.Leu785Ile) c.2398C>A (p.Leu800Ile) | gnomAD v4 |
17 | g.745658C>A | CA397503930 | GEMIN4 | c.2385G>T (p.Lys795Asn) c.2352G>T (p.Lys784Asn) c.2397G>T (p.Lys799Asn) | gnomAD v4 |
17 | g.745658C>G | CA397503931 | GEMIN4 | c.2385G>C (p.Lys795Asn) c.2352G>C (p.Lys784Asn) c.2397G>C (p.Lys799Asn) | |
17 | g.745658C>T | CA497383957 | GEMIN4 | c.2385G>A (p.Lys795=) c.2352G>A (p.Lys784=) c.2397G>A (p.Lys799=) | gnomAD v4 |
17 | g.745659T>A | CA397503932 | GEMIN4 | c.2384A>T (p.Lys795Met) c.2351A>T (p.Lys784Met) c.2396A>T (p.Lys799Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745659T>C | CA397503933 | GEMIN4 | c.2384A>G (p.Lys795Arg) c.2351A>G (p.Lys784Arg) c.2396A>G (p.Lys799Arg) | |
17 | g.745659T>G | CA397503934 | GEMIN4 | c.2384A>C (p.Lys795Thr) c.2351A>C (p.Lys784Thr) c.2396A>C (p.Lys799Thr) | |
17 | g.745659T= | CA2242474362 | GEMIN4 | c.2384A= (p.Lys795=) c.2351A= (p.Lys784=) c.2396A= (p.Lys799=) | |
17 | g.745660T>A | CA397503935 | GEMIN4 | c.2383A>T (p.Lys795Ter) c.2350A>T (p.Lys784Ter) c.2395A>T (p.Lys799Ter) | |
17 | g.745660T>C | CA397503936 | GEMIN4 | c.2383A>G (p.Lys795Glu) c.2350A>G (p.Lys784Glu) c.2395A>G (p.Lys799Glu) | |
17 | g.745660T>G | CA397503937 | GEMIN4 | c.2383A>C (p.Lys795Gln) c.2350A>C (p.Lys784Gln) c.2395A>C (p.Lys799Gln) | |
17 | g.745661A= | CA2242474363 | GEMIN4 | c.2382T= (p.Cys794=) c.2349T= (p.Cys783=) c.2394T= (p.Cys798=) | |
17 | g.745661A>C | CA397503938 | GEMIN4 | c.2382T>G (p.Cys794Trp) c.2349T>G (p.Cys783Trp) c.2394T>G (p.Cys798Trp) | |
17 | g.745661A>G | CA497383958 | GEMIN4 | c.2382T>C (p.Cys794=) c.2349T>C (p.Cys783=) c.2394T>C (p.Cys798=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745661A>T | CA397503939 | GEMIN4 | c.2382T>A (p.Cys794Ter) c.2349T>A (p.Cys783Ter) c.2394T>A (p.Cys798Ter) | |
17 | g.745662C>A | CA397503941 | GEMIN4 | c.2381G>T (p.Cys794Phe) c.2348G>T (p.Cys783Phe) c.2393G>T (p.Cys798Phe) | |
17 | g.745662C= | CA2242474364 | GEMIN4 | c.2381G= (p.Cys794=) c.2348G= (p.Cys783=) c.2393G= (p.Cys798=) | |
17 | g.745662C>G | CA8262431 | GEMIN4 | c.2381G>C (p.Cys794Ser) c.2348G>C (p.Cys783Ser) c.2393G>C (p.Cys798Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745662C>T | CA397503940 | GEMIN4 | c.2381G>A (p.Cys794Tyr) c.2348G>A (p.Cys783Tyr) c.2393G>A (p.Cys798Tyr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745663A>C | CA397503942 | GEMIN4 | c.2380T>G (p.Cys794Gly) c.2347T>G (p.Cys783Gly) c.2392T>G (p.Cys798Gly) | |
17 | g.745663A>G | CA397503943 | GEMIN4 | c.2380T>C (p.Cys794Arg) c.2347T>C (p.Cys783Arg) c.2392T>C (p.Cys798Arg) | |
17 | g.745663A>T | CA397503944 | GEMIN4 | c.2380T>A (p.Cys794Ser) c.2347T>A (p.Cys783Ser) c.2392T>A (p.Cys798Ser) | |
17 | g.745664G>A | CA497383980 | GEMIN4 | c.2379C>T (p.Ile793=) c.2346C>T (p.Ile782=) c.2391C>T (p.Ile797=) | |
17 | g.745664G>C | CA397503945 | GEMIN4 | c.2379C>G (p.Ile793Met) c.2346C>G (p.Ile782Met) c.2391C>G (p.Ile797Met) | |
17 | g.745664G>T | CA497383981 | GEMIN4 | c.2379C>A (p.Ile793=) c.2346C>A (p.Ile782=) c.2391C>A (p.Ile797=) | gnomAD v4 |
17 | g.745665A>C | CA397503946 | GEMIN4 | c.2378T>G (p.Ile793Ser) c.2345T>G (p.Ile782Ser) c.2390T>G (p.Ile797Ser) | |
17 | g.745665A>G | CA397503947 | GEMIN4 | c.2378T>C (p.Ile793Thr) c.2345T>C (p.Ile782Thr) c.2390T>C (p.Ile797Thr) | |
17 | g.745665A>T | CA397503948 | GEMIN4 | c.2378T>A (p.Ile793Asn) c.2345T>A (p.Ile782Asn) c.2390T>A (p.Ile797Asn) | |
17 | g.745666T>A | CA397503949 | GEMIN4 | c.2377A>T (p.Ile793Phe) c.2344A>T (p.Ile782Phe) c.2389A>T (p.Ile797Phe) | |
17 | g.745666T>C | CA397503950 | GEMIN4 | c.2377A>G (p.Ile793Val) c.2344A>G (p.Ile782Val) c.2389A>G (p.Ile797Val) | |
17 | g.745666T>G | CA397503951 | GEMIN4 | c.2377A>C (p.Ile793Leu) c.2344A>C (p.Ile782Leu) c.2389A>C (p.Ile797Leu) | |
17 | g.745667C>A | CA397503952 | GEMIN4 | c.2376G>T (p.Glu792Asp) c.2343G>T (p.Glu781Asp) c.2388G>T (p.Glu796Asp) | gnomAD v4 |
17 | g.745667C>G | CA397503953 | GEMIN4 | c.2376G>C (p.Glu792Asp) c.2343G>C (p.Glu781Asp) c.2388G>C (p.Glu796Asp) | |
17 | g.745667C>T | CA497383993 | GEMIN4 | c.2376G>A (p.Glu792=) c.2343G>A (p.Glu781=) c.2388G>A (p.Glu796=) | |
17 | g.745668T>A | CA397503954 | GEMIN4 | c.2375A>T (p.Glu792Val) c.2342A>T (p.Glu781Val) c.2387A>T (p.Glu796Val) | |
17 | g.745668T>C | CA397503955 | GEMIN4 | c.2375A>G (p.Glu792Gly) c.2342A>G (p.Glu781Gly) c.2387A>G (p.Glu796Gly) | gnomAD v4 |
17 | g.745668T>G | CA397503956 | GEMIN4 | c.2375A>C (p.Glu792Ala) c.2342A>C (p.Glu781Ala) c.2387A>C (p.Glu796Ala) | |
17 | g.745669C>A | CA397503958 | GEMIN4 | c.2374G>T (p.Glu792Ter) c.2341G>T (p.Glu781Ter) c.2386G>T (p.Glu796Ter) | |
17 | g.745669C>G | CA397503959 | GEMIN4 | c.2374G>C (p.Glu792Gln) c.2341G>C (p.Glu781Gln) c.2386G>C (p.Glu796Gln) | |
17 | g.745669C>T | CA397503957 | GEMIN4 | c.2374G>A (p.Glu792Lys) c.2341G>A (p.Glu781Lys) c.2386G>A (p.Glu796Lys) | |
17 | g.745670A>C | CA397503960 | GEMIN4 | c.2373T>G (p.Phe791Leu) c.2340T>G (p.Phe780Leu) c.2385T>G (p.Phe795Leu) | |
17 | g.745670A>G | CA497384003 | GEMIN4 | c.2373T>C (p.Phe791=) c.2340T>C (p.Phe780=) c.2385T>C (p.Phe795=) | |
17 | g.745670A>T | CA397503961 | GEMIN4 | c.2373T>A (p.Phe791Leu) c.2340T>A (p.Phe780Leu) c.2385T>A (p.Phe795Leu) | gnomAD v4 |
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.745670_745671insTGAGTGCTTTGCCTCCCGATATGCCAGAGCTTGTGGTCC | CA2808150947 | GEMIN4 | c.2372_2373insGGACCACAAGCTCTGGCATATCGGGAGGCAAAGCACTCA (p.Phe791delinsLeuAspHisLysLeuTrpHisIleGlyArgGlnSerThrHis) c.2339_2340insGGACCACAAGCTCTGGCATATCGGGAGGCAAAGCACTCA (p.Phe780delinsLeuAspHisLysLeuTrpHisIleGlyArgGlnSerThrHis) c.2384_2385insGGACCACAAGCTCTGGCATATCGGGAGGCAAAGCACTCA (p.Phe795delinsLeuAspHisLysLeuTrpHisIleGlyArgGlnSerThrHis) | |
17 | g.745671A>C | CA397503962 | GEMIN4 | c.2372T>G (p.Phe791Cys) c.2339T>G (p.Phe780Cys) c.2384T>G (p.Phe795Cys) | gnomAD v4 |
17 | g.745671A>G | CA397503963 | GEMIN4 | c.2372T>C (p.Phe791Ser) c.2339T>C (p.Phe780Ser) c.2384T>C (p.Phe795Ser) | gnomAD v4 |
17 | g.745671A>T | CA397503964 | GEMIN4 | c.2372T>A (p.Phe791Tyr) c.2339T>A (p.Phe780Tyr) c.2384T>A (p.Phe795Tyr) | |
17 | g.745672A= | CA2242474365 | GEMIN4 | c.2371T= (p.Phe791=) c.2338T= (p.Phe780=) c.2383T= (p.Phe795=) | |
17 | g.745672A>C | CA397503965 | GEMIN4 | c.2371T>G (p.Phe791Val) c.2338T>G (p.Phe780Val) c.2383T>G (p.Phe795Val) | |
17 | g.745672A>G | CA8262432 | GEMIN4 | c.2371T>C (p.Phe791Leu) c.2338T>C (p.Phe780Leu) c.2383T>C (p.Phe795Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745672A>T | CA397503966 | GEMIN4 | c.2371T>A (p.Phe791Ile) c.2338T>A (p.Phe780Ile) c.2383T>A (p.Phe795Ile) | |
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=) |