Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.101243621T>A | CA353855920 | IMPG2 | c.2710A>T (p.Ser904Cys) c.2416A>T (p.Ser806Cys) c.2299A>T (p.Ser767Cys) | |
3 | g.101243621T>C | CA353855921 | IMPG2 | c.2710A>G (p.Ser904Gly) c.2416A>G (p.Ser806Gly) c.2299A>G (p.Ser767Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243621T>G | CA353855924 | IMPG2 | c.2710A>C (p.Ser904Arg) c.2416A>C (p.Ser806Arg) c.2299A>C (p.Ser767Arg) | |
3 | g.101243621T= | CA1388615852 | IMPG2 | c.2710A= (p.Ser904=) c.2416A= (p.Ser806=) c.2299A= (p.Ser767=) | |
3 | g.101243622G>A | CA434869613 | IMPG2 | c.2709C>T (p.Phe903=) c.2415C>T (p.Phe805=) c.2298C>T (p.Phe766=) | gnomAD v4 |
3 | g.101243622G>C | CA353855927 | IMPG2 | c.2709C>G (p.Phe903Leu) c.2415C>G (p.Phe805Leu) c.2298C>G (p.Phe766Leu) | |
3 | g.101243622G>T | CA353855928 | IMPG2 | c.2709C>A (p.Phe903Leu) c.2415C>A (p.Phe805Leu) c.2298C>A (p.Phe766Leu) | |
3 | g.101243623A>C | CA353855930 | IMPG2 | c.2708T>G (p.Phe903Cys) c.2414T>G (p.Phe805Cys) c.2297T>G (p.Phe766Cys) | gnomAD v4 |
3 | g.101243623A>G | CA353855931 | IMPG2 | c.2708T>C (p.Phe903Ser) c.2414T>C (p.Phe805Ser) c.2297T>C (p.Phe766Ser) | |
3 | g.101243623A>T | CA353855929 | IMPG2 | c.2708T>A (p.Phe903Tyr) c.2414T>A (p.Phe805Tyr) c.2297T>A (p.Phe766Tyr) | |
3 | g.101243624A>C | CA353855933 | IMPG2 | c.2707T>G (p.Phe903Val) c.2413T>G (p.Phe805Val) c.2296T>G (p.Phe766Val) | |
3 | g.101243624A>G | CA353855935 | IMPG2 | c.2707T>C (p.Phe903Leu) c.2413T>C (p.Phe805Leu) c.2296T>C (p.Phe766Leu) | gnomAD v4 |
3 | g.101243624A>T | CA353855936 | IMPG2 | c.2707T>A (p.Phe903Ile) c.2413T>A (p.Phe805Ile) c.2296T>A (p.Phe766Ile) | |
3 | g.101243625G>A | CA434869614 | IMPG2 | c.2706C>T (p.Phe902=) c.2412C>T (p.Phe804=) c.2295C>T (p.Phe765=) | |
3 | g.101243625G>C | CA353855939 | IMPG2 | c.2706C>G (p.Phe902Leu) c.2412C>G (p.Phe804Leu) c.2295C>G (p.Phe765Leu) | |
3 | g.101243625G>T | CA353855941 | IMPG2 | c.2706C>A (p.Phe902Leu) c.2412C>A (p.Phe804Leu) c.2295C>A (p.Phe765Leu) | |
3 | g.101243626A>C | CA353855949 | IMPG2 | c.2705T>G (p.Phe902Cys) c.2411T>G (p.Phe804Cys) c.2294T>G (p.Phe765Cys) | |
3 | g.101243626A>G | CA353855944 | IMPG2 | c.2705T>C (p.Phe902Ser) c.2411T>C (p.Phe804Ser) c.2294T>C (p.Phe765Ser) | gnomAD v4 |
3 | g.101243626A>T | CA353855946 | IMPG2 | c.2705T>A (p.Phe902Tyr) c.2411T>A (p.Phe804Tyr) c.2294T>A (p.Phe765Tyr) | |
3 | g.101243627A>C | CA353855951 | IMPG2 | c.2704T>G (p.Phe902Val) c.2410T>G (p.Phe804Val) c.2293T>G (p.Phe765Val) | |
3 | g.101243627A>G | CA353855961 | IMPG2 | c.2704T>C (p.Phe902Leu) c.2410T>C (p.Phe804Leu) c.2293T>C (p.Phe765Leu) | |
3 | g.101243627A>T | CA353855964 | IMPG2 | c.2704T>A (p.Phe902Ile) c.2410T>A (p.Phe804Ile) c.2293T>A (p.Phe765Ile) | |
3 | g.101243628A>C | CA434869615 | IMPG2 | c.2703T>G (p.Val901=) c.2409T>G (p.Val803=) c.2292T>G (p.Val764=) | |
3 | g.101243628A>G | CA434869616 | IMPG2 | c.2703T>C (p.Val901=) c.2409T>C (p.Val803=) c.2292T>C (p.Val764=) | |
3 | g.101243628A>T | CA434869617 | IMPG2 | c.2703T>A (p.Val901=) c.2409T>A (p.Val803=) c.2292T>A (p.Val764=) | |
3 | g.101243629A>C | CA353855966 | IMPG2 | c.2702T>G (p.Val901Gly) c.2408T>G (p.Val803Gly) c.2291T>G (p.Val764Gly) | |
3 | g.101243629A>G | CA353855967 | IMPG2 | c.2702T>C (p.Val901Ala) c.2408T>C (p.Val803Ala) c.2291T>C (p.Val764Ala) | |
3 | g.101243629A>T | CA353855969 | IMPG2 | c.2702T>A (p.Val901Asp) c.2408T>A (p.Val803Asp) c.2291T>A (p.Val764Asp) | |
3 | g.101243630C>A | CA353855981 | IMPG2 | c.2701G>T (p.Val901Phe) c.2407G>T (p.Val803Phe) c.2290G>T (p.Val764Phe) | |
3 | g.101243630C>G | CA353855987 | IMPG2 | c.2701G>C (p.Val901Leu) c.2407G>C (p.Val803Leu) c.2290G>C (p.Val764Leu) | |
3 | g.101243630C>T | CA353855974 | IMPG2 | c.2701G>A (p.Val901Ile) c.2407G>A (p.Val803Ile) c.2290G>A (p.Val764Ile) | |
3 | g.101243631C>A | CA434869618 | IMPG2 | c.2700G>T (p.Val900=) c.2406G>T (p.Val802=) c.2289G>T (p.Val763=) | |
3 | g.101243631C= | CA1388615853 | IMPG2 | c.2700G= (p.Val900=) c.2406G= (p.Val802=) c.2289G= (p.Val763=) | |
3 | g.101243631C>G | CA434869619 | IMPG2 | c.2700G>C (p.Val900=) c.2406G>C (p.Val802=) c.2289G>C (p.Val763=) | |
3 | g.101243631C>T | CA2518928 | IMPG2 | c.2700G>A (p.Val900=) c.2406G>A (p.Val802=) c.2289G>A (p.Val763=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243632A>C | CA353856002 | IMPG2 | c.2699T>G (p.Val900Gly) c.2405T>G (p.Val802Gly) c.2288T>G (p.Val763Gly) | |
3 | g.101243632A>G | CA353855997 | IMPG2 | c.2699T>C (p.Val900Ala) c.2405T>C (p.Val802Ala) c.2288T>C (p.Val763Ala) | |
3 | g.101243632A>T | CA353855999 | IMPG2 | c.2699T>A (p.Val900Glu) c.2405T>A (p.Val802Glu) c.2288T>A (p.Val763Glu) | |
3 | g.101243633C>A | CA353856006 | IMPG2 | c.2698G>T (p.Val900Leu) c.2404G>T (p.Val802Leu) c.2287G>T (p.Val763Leu) | |
3 | g.101243633C= | CA1388615854 | IMPG2 | c.2698G= (p.Val900=) c.2404G= (p.Val802=) c.2287G= (p.Val763=) | |
3 | g.101243633C>G | CA353856008 | IMPG2 | c.2698G>C (p.Val900Leu) c.2404G>C (p.Val802Leu) c.2287G>C (p.Val763Leu) | dbSNP |
3 | g.101243633C>T | CA2518929 | IMPG2 | c.2698G>A (p.Val900Met) c.2404G>A (p.Val802Met) c.2287G>A (p.Val763Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243634C>A | CA353856014 | IMPG2 | c.2697G>T (p.Leu899Phe) c.2403G>T (p.Leu801Phe) c.2286G>T (p.Leu762Phe) | |
3 | g.101243634C>G | CA353856016 | IMPG2 | c.2697G>C (p.Leu899Phe) c.2403G>C (p.Leu801Phe) c.2286G>C (p.Leu762Phe) | |
3 | g.101243634C>T | CA434869620 | IMPG2 | c.2697G>A (p.Leu899=) c.2403G>A (p.Leu801=) c.2286G>A (p.Leu762=) | |
3 | g.101243635A>C | CA353856020 | IMPG2 | c.2696T>G (p.Leu899Trp) c.2402T>G (p.Leu801Trp) c.2285T>G (p.Leu762Trp) | gnomAD v4 |
3 | g.101243635A>G | CA353856022 | IMPG2 | c.2696T>C (p.Leu899Ser) c.2402T>C (p.Leu801Ser) c.2285T>C (p.Leu762Ser) | |
3 | g.101243635A>T | CA353856025 | IMPG2 | c.2696T>A (p.Leu899Ter) c.2402T>A (p.Leu801Ter) c.2285T>A (p.Leu762Ter) | |
3 | g.101243636A>C | CA353856028 | IMPG2 | c.2695T>G (p.Leu899Val) c.2401T>G (p.Leu801Val) c.2284T>G (p.Leu762Val) | gnomAD v4 |
3 | g.101243636A>G | CA434869621 | IMPG2 | c.2695T>C (p.Leu899=) c.2401T>C (p.Leu801=) c.2284T>C (p.Leu762=) | |
3 | g.101243636A>T | CA353856029 | IMPG2 | c.2695T>A (p.Leu899Met) c.2401T>A (p.Leu801Met) c.2284T>A (p.Leu762Met) | |
3 | g.101243637A>C | CA434869622 | IMPG2 | c.2694T>G (p.Ala898=) c.2400T>G (p.Ala800=) c.2283T>G (p.Ala761=) | |
3 | g.101243637A>G | CA434869623 | IMPG2 | c.2694T>C (p.Ala898=) c.2400T>C (p.Ala800=) c.2283T>C (p.Ala761=) | |
3 | g.101243637A>T | CA434869624 | IMPG2 | c.2694T>A (p.Ala898=) c.2400T>A (p.Ala800=) c.2283T>A (p.Ala761=) | |
3 | g.101243638G>A | CA353856038 | IMPG2 | c.2693C>T (p.Ala898Val) c.2399C>T (p.Ala800Val) c.2282C>T (p.Ala761Val) | |
3 | g.101243638G>C | CA353856036 | IMPG2 | c.2693C>G (p.Ala898Gly) c.2399C>G (p.Ala800Gly) c.2282C>G (p.Ala761Gly) | |
3 | g.101243638G>T | CA353856033 | IMPG2 | c.2693C>A (p.Ala898Asp) c.2399C>A (p.Ala800Asp) c.2282C>A (p.Ala761Asp) | |
3 | g.101243639C>A | CA353856041 | IMPG2 | c.2692G>T (p.Ala898Ser) c.2398G>T (p.Ala800Ser) c.2281G>T (p.Ala761Ser) | |
3 | g.101243639C>G | CA353856044 | IMPG2 | c.2692G>C (p.Ala898Pro) c.2398G>C (p.Ala800Pro) c.2281G>C (p.Ala761Pro) | gnomAD v4 |
3 | g.101243639C>T | CA353856047 | IMPG2 | c.2692G>A (p.Ala898Thr) c.2398G>A (p.Ala800Thr) c.2281G>A (p.Ala761Thr) | gnomAD v4 |
3 | g.101243640T>A | CA434869627 | IMPG2 | c.2691A>T (p.Gly897=) c.2397A>T (p.Gly799=) c.2280A>T (p.Gly760=) | |
3 | g.101243640T>C | CA434869625 | IMPG2 | c.2691A>G (p.Gly897=) c.2397A>G (p.Gly799=) c.2280A>G (p.Gly760=) | |
3 | g.101243640T>G | CA434869626 | IMPG2 | c.2691A>C (p.Gly897=) c.2397A>C (p.Gly799=) c.2280A>C (p.Gly760=) | |
3 | g.101243641C>A | CA79722127 | IMPG2 | c.2690G>T (p.Gly897Val) c.2396G>T (p.Gly799Val) c.2279G>T (p.Gly760Val) | dbSNP |
3 | g.101243641C= | CA1388615855 | IMPG2 | c.2690G= (p.Gly897=) c.2396G= (p.Gly799=) c.2279G= (p.Gly760=) | |
3 | g.101243641C>G | CA353856052 | IMPG2 | c.2690G>C (p.Gly897Ala) c.2396G>C (p.Gly799Ala) c.2279G>C (p.Gly760Ala) | COSMIC |
3 | g.101243641C>T | CA353856054 | IMPG2 | c.2690G>A (p.Gly897Glu) c.2396G>A (p.Gly799Glu) c.2279G>A (p.Gly760Glu) | dbSNP gnomAD v4 COSMIC |
3 | g.101243642C>A | CA353856056 | IMPG2 | c.2689G>T (p.Gly897Ter) c.2395G>T (p.Gly799Ter) c.2278G>T (p.Gly760Ter) | COSMIC |
3 | g.101243642C>G | CA353856059 | IMPG2 | c.2689G>C (p.Gly897Arg) c.2395G>C (p.Gly799Arg) c.2278G>C (p.Gly760Arg) | |
3 | g.101243642C>T | CA353856061 | IMPG2 | c.2689G>A (p.Gly897Arg) c.2395G>A (p.Gly799Arg) c.2278G>A (p.Gly760Arg) | |
3 | g.101243643T>A | CA434869628 | IMPG2 | c.2688A>T (p.Ser896=) c.2394A>T (p.Ser798=) c.2277A>T (p.Ser759=) | gnomAD v4 |
3 | g.101243643T>C | CA434869629 | IMPG2 | c.2688A>G (p.Ser896=) c.2394A>G (p.Ser798=) c.2277A>G (p.Ser759=) | |
3 | g.101243643T>G | CA434869630 | IMPG2 | c.2688A>C (p.Ser896=) c.2394A>C (p.Ser798=) c.2277A>C (p.Ser759=) | gnomAD v4 |
3 | g.101243644G>A | CA353856062 | IMPG2 | c.2687C>T (p.Ser896Leu) c.2393C>T (p.Ser798Leu) c.2276C>T (p.Ser759Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243644G>C | CA353856066 | IMPG2 | c.2687C>G (p.Ser896Ter) c.2393C>G (p.Ser798Ter) c.2276C>G (p.Ser759Ter) | |
3 | g.101243644G= | CA1388615856 | IMPG2 | c.2687C= (p.Ser896=) c.2393C= (p.Ser798=) c.2276C= (p.Ser759=) | |
3 | g.101243644G>T | CA353856069 | IMPG2 | c.2687C>A (p.Ser896Ter) c.2393C>A (p.Ser798Ter) c.2276C>A (p.Ser759Ter) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243645A>C | CA353856074 | IMPG2 | c.2686T>G (p.Ser896Ala) c.2392T>G (p.Ser798Ala) c.2275T>G (p.Ser759Ala) | |
3 | g.101243645A>G | CA353856073 | IMPG2 | c.2686T>C (p.Ser896Pro) c.2392T>C (p.Ser798Pro) c.2275T>C (p.Ser759Pro) | |
3 | g.101243645A>T | CA353856071 | IMPG2 | c.2686T>A (p.Ser896Thr) c.2392T>A (p.Ser798Thr) c.2275T>A (p.Ser759Thr) | |
3 | g.101243646A>C | CA434869631 | IMPG2 | c.2685T>G (p.Thr895=) c.2391T>G (p.Thr797=) c.2274T>G (p.Thr758=) | |
3 | g.101243646A>G | CA434869633 | IMPG2 | c.2685T>C (p.Thr895=) c.2391T>C (p.Thr797=) c.2274T>C (p.Thr758=) | |
3 | g.101243646A>T | CA434869632 | IMPG2 | c.2685T>A (p.Thr895=) c.2391T>A (p.Thr797=) c.2274T>A (p.Thr758=) | gnomAD v4 |
3 | g.101243647G>A | CA353856075 | IMPG2 | c.2684C>T (p.Thr895Ile) c.2390C>T (p.Thr797Ile) c.2273C>T (p.Thr758Ile) | |
3 | g.101243647G>C | CA2518930 | IMPG2 | c.2684C>G (p.Thr895Ser) c.2390C>G (p.Thr797Ser) c.2273C>G (p.Thr758Ser) | dbSNP ExAC gnomAD v2 |
3 | g.101243647G= | CA1388615857 | IMPG2 | c.2684C= (p.Thr895=) c.2390C= (p.Thr797=) c.2273C= (p.Thr758=) | |
3 | g.101243647G>T | CA353856078 | IMPG2 | c.2684C>A (p.Thr895Asn) c.2390C>A (p.Thr797Asn) c.2273C>A (p.Thr758Asn) | |
3 | g.101243648T>A | CA353856079 | IMPG2 | c.2683A>T (p.Thr895Ser) c.2389A>T (p.Thr797Ser) c.2272A>T (p.Thr758Ser) | |
3 | g.101243648T>C | CA353856081 | IMPG2 | c.2683A>G (p.Thr895Ala) c.2389A>G (p.Thr797Ala) c.2272A>G (p.Thr758Ala) | dbSNP gnomAD v4 |
3 | g.101243648T>G | CA353856082 | IMPG2 | c.2683A>C (p.Thr895Pro) c.2389A>C (p.Thr797Pro) c.2272A>C (p.Thr758Pro) | |
3 | g.101243648T= | CA1388615858 | IMPG2 | c.2683A= (p.Thr895=) c.2389A= (p.Thr797=) c.2272A= (p.Thr758=) | |
3 | g.101243649C>A | CA353856087 | IMPG2 | c.2682G>T (p.Gln894His) c.2388G>T (p.Gln796His) c.2271G>T (p.Gln757His) | |
3 | g.101243649C= | CA1388615859 | IMPG2 | c.2682G= (p.Gln894=) c.2388G= (p.Gln796=) c.2271G= (p.Gln757=) | |
3 | g.101243649C>G | CA353856085 | IMPG2 | c.2682G>C (p.Gln894His) c.2388G>C (p.Gln796His) c.2271G>C (p.Gln757His) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243649C>T | CA434869634 | IMPG2 | c.2682G>A (p.Gln894=) c.2388G>A (p.Gln796=) c.2271G>A (p.Gln757=) | |
3 | g.101243650T>A | CA353856089 | IMPG2 | c.2681A>T (p.Gln894Leu) c.2387A>T (p.Gln796Leu) c.2270A>T (p.Gln757Leu) | |
3 | g.101243650T>C | CA353856091 | IMPG2 | c.2681A>G (p.Gln894Arg) c.2387A>G (p.Gln796Arg) c.2270A>G (p.Gln757Arg) | |
3 | g.101243650T>G | CA353856092 | IMPG2 | c.2681A>C (p.Gln894Pro) c.2387A>C (p.Gln796Pro) c.2270A>C (p.Gln757Pro) | |
3 | g.101243651G>A | CA353856095 | IMPG2 | c.2680C>T (p.Gln894Ter) c.2386C>T (p.Gln796Ter) c.2269C>T (p.Gln757Ter) | |
3 | g.101243651G>C | CA353856097 | IMPG2 | c.2680C>G (p.Gln894Glu) c.2386C>G (p.Gln796Glu) c.2269C>G (p.Gln757Glu) | |
3 | g.101243651G= | CA1388615860 | IMPG2 | c.2680C= (p.Gln894=) c.2386C= (p.Gln796=) c.2269C= (p.Gln757=) | |
3 | g.101243651G>T | CA353856098 | IMPG2 | c.2680C>A (p.Gln894Lys) c.2386C>A (p.Gln796Lys) c.2269C>A (p.Gln757Lys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243652G>A | CA434869635 | IMPG2 | c.2679C>T (p.Thr893=) c.2385C>T (p.Thr795=) c.2268C>T (p.Thr756=) | |
3 | g.101243652G>C | CA434869637 | IMPG2 | c.2679C>G (p.Thr893=) c.2385C>G (p.Thr795=) c.2268C>G (p.Thr756=) | gnomAD v4 |
3 | g.101243652G= | CA1388615861 | IMPG2 | c.2679C= (p.Thr893=) c.2385C= (p.Thr795=) c.2268C= (p.Thr756=) | |
3 | g.101243652G>T | CA434869636 | IMPG2 | c.2679C>A (p.Thr893=) c.2385C>A (p.Thr795=) c.2268C>A (p.Thr756=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243653G>A | CA2518931 | IMPG2 | c.2678C>T (p.Thr893Ile) c.2384C>T (p.Thr795Ile) c.2267C>T (p.Thr756Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.101243653G>C | CA353856100 | IMPG2 | c.2678C>G (p.Thr893Ser) c.2384C>G (p.Thr795Ser) c.2267C>G (p.Thr756Ser) | dbSNP |
3 | g.101243653G= | CA1388615862 | IMPG2 | c.2678C= (p.Thr893=) c.2384C= (p.Thr795=) c.2267C= (p.Thr756=) | |
3 | g.101243653G>T | CA353856099 | IMPG2 | c.2678C>A (p.Thr893Asn) c.2384C>A (p.Thr795Asn) c.2267C>A (p.Thr756Asn) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.101243654T>A | CA353856102 | IMPG2 | c.2677A>T (p.Thr893Ser) c.2383A>T (p.Thr795Ser) c.2266A>T (p.Thr756Ser) | |
3 | g.101243654T>C | CA353856104 | IMPG2 | c.2677A>G (p.Thr893Ala) c.2383A>G (p.Thr795Ala) c.2266A>G (p.Thr756Ala) | |
3 | g.101243654T>G | CA353856106 | IMPG2 | c.2677A>C (p.Thr893Pro) c.2383A>C (p.Thr795Pro) c.2266A>C (p.Thr756Pro) | |
3 | g.101243655A>C | CA353856107 | IMPG2 | c.2676T>G (p.Tyr892Ter) c.2382T>G (p.Tyr794Ter) c.2265T>G (p.Tyr755Ter) | |
3 | g.101243655A>G | CA434869638 | IMPG2 | c.2676T>C (p.Tyr892=) c.2382T>C (p.Tyr794=) c.2265T>C (p.Tyr755=) | |
3 | g.101243655A>T | CA353856108 | IMPG2 | c.2676T>A (p.Tyr892Ter) c.2382T>A (p.Tyr794Ter) c.2265T>A (p.Tyr755Ter) | |
3 | g.101243656T>A | CA353856110 | IMPG2 | c.2675A>T (p.Tyr892Phe) c.2381A>T (p.Tyr794Phe) c.2264A>T (p.Tyr755Phe) | |
3 | g.101243656T>C | CA353856112 | IMPG2 | c.2675A>G (p.Tyr892Cys) c.2381A>G (p.Tyr794Cys) c.2264A>G (p.Tyr755Cys) | |
3 | g.101243656T>G | CA353856113 | IMPG2 | c.2675A>C (p.Tyr892Ser) c.2381A>C (p.Tyr794Ser) c.2264A>C (p.Tyr755Ser) | |
3 | g.101243657A>C | CA353856115 | IMPG2 | c.2674T>G (p.Tyr892Asp) c.2380T>G (p.Tyr794Asp) c.2263T>G (p.Tyr755Asp) | |
3 | g.101243657A>G | CA353856117 | IMPG2 | c.2674T>C (p.Tyr892His) c.2380T>C (p.Tyr794His) c.2263T>C (p.Tyr755His) | gnomAD v4 |
3 | g.101243657A>T | CA353856119 | IMPG2 | c.2674T>A (p.Tyr892Asn) c.2380T>A (p.Tyr794Asn) c.2263T>A (p.Tyr755Asn) | |
3 | g.101243658A>C | CA353856120 | IMPG2 | c.2673T>G (p.Ser891Arg) c.2379T>G (p.Ser793Arg) c.2262T>G (p.Ser754Arg) | gnomAD v4 |
3 | g.101243658A>G | CA434869639 | IMPG2 | c.2673T>C (p.Ser891=) c.2379T>C (p.Ser793=) c.2262T>C (p.Ser754=) | |
3 | g.101243658A>T | CA353856121 | IMPG2 | c.2673T>A (p.Ser891Arg) c.2379T>A (p.Ser793Arg) c.2262T>A (p.Ser754Arg) | |
3 | g.101243659C>A | CA353856122 | IMPG2 | c.2672G>T (p.Ser891Ile) c.2378G>T (p.Ser793Ile) c.2261G>T (p.Ser754Ile) | |
3 | g.101243659C= | CA1388615863 | IMPG2 | c.2672G= (p.Ser891=) c.2378G= (p.Ser793=) c.2261G= (p.Ser754=) | |
3 | g.101243659C>G | CA353856125 | IMPG2 | c.2672G>C (p.Ser891Thr) c.2378G>C (p.Ser793Thr) c.2261G>C (p.Ser754Thr) | |
3 | g.101243659C>T | CA2518932 | IMPG2 | c.2672G>A (p.Ser891Asn) c.2378G>A (p.Ser793Asn) c.2261G>A (p.Ser754Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243660T>A | CA353856126 | IMPG2 | c.2671A>T (p.Ser891Cys) c.2377A>T (p.Ser793Cys) c.2260A>T (p.Ser754Cys) | |
3 | g.101243660T>C | CA353856129 | IMPG2 | c.2671A>G (p.Ser891Gly) c.2377A>G (p.Ser793Gly) c.2260A>G (p.Ser754Gly) | |
3 | g.101243660T>G | CA353856127 | IMPG2 | c.2671A>C (p.Ser891Arg) c.2377A>C (p.Ser793Arg) c.2260A>C (p.Ser754Arg) | |
3 | g.101243661C>A | CA353856130 | IMPG2 | c.2670G>T (p.Leu890Phe) c.2376G>T (p.Leu792Phe) c.2259G>T (p.Leu753Phe) | |
3 | g.101243661C>G | CA353856131 | IMPG2 | c.2670G>C (p.Leu890Phe) c.2376G>C (p.Leu792Phe) c.2259G>C (p.Leu753Phe) | |
3 | g.101243661C>T | CA434869642 | IMPG2 | c.2670G>A (p.Leu890=) c.2376G>A (p.Leu792=) c.2259G>A (p.Leu753=) | |
3 | g.101243662A= | CA1388615864 | IMPG2 | c.2669T= (p.Leu890=) c.2375T= (p.Leu792=) c.2258T= (p.Leu753=) | |
3 | g.101243662A>C | CA353856133 | IMPG2 | c.2669T>G (p.Leu890Trp) c.2375T>G (p.Leu792Trp) c.2258T>G (p.Leu753Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243662A>G | CA353856136 | IMPG2 | c.2669T>C (p.Leu890Ser) c.2375T>C (p.Leu792Ser) c.2258T>C (p.Leu753Ser) | |
3 | g.101243662A>T | CA353856134 | IMPG2 | c.2669T>A (p.Leu890Ter) c.2375T>A (p.Leu792Ter) c.2258T>A (p.Leu753Ter) | |
3 | g.101243663A>C | CA353856138 | IMPG2 | c.2668T>G (p.Leu890Val) c.2374T>G (p.Leu792Val) c.2257T>G (p.Leu753Val) | |
3 | g.101243663A>G | CA434869645 | IMPG2 | c.2668T>C (p.Leu890=) c.2374T>C (p.Leu792=) c.2257T>C (p.Leu753=) | |
3 | g.101243663A>T | CA353856140 | IMPG2 | c.2668T>A (p.Leu890Met) c.2374T>A (p.Leu792Met) c.2257T>A (p.Leu753Met) | ClinVar |
3 | g.101243664G>A | CA79722150 | IMPG2 | c.2667C>T (p.Asp889=) c.2373C>T (p.Asp791=) c.2256C>T (p.Asp752=) | ClinVar dbSNP gnomAD v4 |
3 | g.101243664G>C | CA353856141 | IMPG2 | c.2667C>G (p.Asp889Glu) c.2373C>G (p.Asp791Glu) c.2256C>G (p.Asp752Glu) | |
3 | g.101243664G= | CA1388615865 | IMPG2 | c.2667C= (p.Asp889=) c.2373C= (p.Asp791=) c.2256C= (p.Asp752=) | |
3 | g.101243664G>T | CA353856142 | IMPG2 | c.2667C>A (p.Asp889Glu) c.2373C>A (p.Asp791Glu) c.2256C>A (p.Asp752Glu) | |
3 | g.101243665T>A | CA353856144 | IMPG2 | c.2666A>T (p.Asp889Val) c.2372A>T (p.Asp791Val) c.2255A>T (p.Asp752Val) | |
3 | g.101243665T>C | CA353856145 | IMPG2 | c.2666A>G (p.Asp889Gly) c.2372A>G (p.Asp791Gly) c.2255A>G (p.Asp752Gly) | |
3 | g.101243665T>G | CA353856147 | IMPG2 | c.2666A>C (p.Asp889Ala) c.2372A>C (p.Asp791Ala) c.2255A>C (p.Asp752Ala) | |
3 | g.101243666C>A | CA353856149 | IMPG2 | c.2665G>T (p.Asp889Tyr) c.2371G>T (p.Asp791Tyr) c.2254G>T (p.Asp752Tyr) | |
3 | g.101243666C>G | CA353856151 | IMPG2 | c.2665G>C (p.Asp889His) c.2371G>C (p.Asp791His) c.2254G>C (p.Asp752His) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.101243666C>T | CA353856153 | IMPG2 | c.2665G>A (p.Asp889Asn) c.2371G>A (p.Asp791Asn) c.2254G>A (p.Asp752Asn) | |
3 | g.101243667A= | CA1388615866 | IMPG2 | c.2664T= (p.Asp888=) c.2370T= (p.Asp790=) c.2253T= (p.Asp751=) | |
3 | g.101243667A>C | CA353856155 | IMPG2 | c.2664T>G (p.Asp888Glu) c.2370T>G (p.Asp790Glu) c.2253T>G (p.Asp751Glu) | |
3 | g.101243667A>G | CA434869647 | IMPG2 | c.2664T>C (p.Asp888=) c.2370T>C (p.Asp790=) c.2253T>C (p.Asp751=) | ClinVar dbSNP |
3 | g.101243667A>T | CA353856157 | IMPG2 | c.2664T>A (p.Asp888Glu) c.2370T>A (p.Asp790Glu) c.2253T>A (p.Asp751Glu) | gnomAD v4 |
3 | g.101243668T>A | CA353856159 | IMPG2 | c.2663A>T (p.Asp888Val) c.2369A>T (p.Asp790Val) c.2252A>T (p.Asp751Val) | |
3 | g.101243668T>C | CA353856162 | IMPG2 | c.2663A>G (p.Asp888Gly) c.2369A>G (p.Asp790Gly) c.2252A>G (p.Asp751Gly) | |
3 | g.101243668T>G | CA353856160 | IMPG2 | c.2663A>C (p.Asp888Ala) c.2369A>C (p.Asp790Ala) c.2252A>C (p.Asp751Ala) | |
3 | g.101243668_101243671delinsTCTC | CA1388615867 | IMPG2 | c.2660_2663delinsGAGA (p.Gly887=) c.2366_2369delinsGAGA (p.Gly789=) c.2249_2252delinsGAGA (p.Gly750=) | |
3 | g.101243669C>A | CA353856164 | IMPG2 | c.2662G>T (p.Asp888Tyr) c.2368G>T (p.Asp790Tyr) c.2251G>T (p.Asp751Tyr) | |
3 | g.101243669C>G | CA353856166 | IMPG2 | c.2662G>C (p.Asp888His) c.2368G>C (p.Asp790His) c.2251G>C (p.Asp751His) | |
3 | g.101243669C>T | CA353856168 | IMPG2 | c.2662G>A (p.Asp888Asn) c.2368G>A (p.Asp790Asn) c.2251G>A (p.Asp751Asn) | |
3 | g.101243674_101243676del | CA545494272 | IMPG2 | c.2660_2662del (p.Gly887del) c.2366_2368del (p.Gly789del) c.2249_2251del (p.Gly750del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243670T>A | CA434869649 | IMPG2 | c.2661A>T (p.Gly887=) c.2367A>T (p.Gly789=) c.2250A>T (p.Gly750=) | |
3 | g.101243670T>C | CA434869650 | IMPG2 | c.2661A>G (p.Gly887=) c.2367A>G (p.Gly789=) c.2250A>G (p.Gly750=) | gnomAD v4 |
3 | g.101243670T>G | CA434869652 | IMPG2 | c.2661A>C (p.Gly887=) c.2367A>C (p.Gly789=) c.2250A>C (p.Gly750=) | |
3 | g.101243671C>A | CA353856170 | IMPG2 | c.2660G>T (p.Gly887Val) c.2366G>T (p.Gly789Val) c.2249G>T (p.Gly750Val) | |
3 | g.101243671C>G | CA353856171 | IMPG2 | c.2660G>C (p.Gly887Ala) c.2366G>C (p.Gly789Ala) c.2249G>C (p.Gly750Ala) | |
3 | g.101243671C>T | CA353856173 | IMPG2 | c.2660G>A (p.Gly887Glu) c.2366G>A (p.Gly789Glu) c.2249G>A (p.Gly750Glu) | COSMIC |
3 | g.101243672C>A | CA353856175 | IMPG2 | c.2659G>T (p.Gly887Ter) c.2365G>T (p.Gly789Ter) c.2248G>T (p.Gly750Ter) | |
3 | g.101243672C>G | CA353856177 | IMPG2 | c.2659G>C (p.Gly887Arg) c.2365G>C (p.Gly789Arg) c.2248G>C (p.Gly750Arg) | |
3 | g.101243672C>T | CA353856178 | IMPG2 | c.2659G>A (p.Gly887Arg) c.2365G>A (p.Gly789Arg) c.2248G>A (p.Gly750Arg) | gnomAD v4 |
3 | g.101243673T>A | CA434869654 | IMPG2 | c.2658A>T (p.Gly886=) c.2364A>T (p.Gly788=) c.2247A>T (p.Gly749=) | |
3 | g.101243673T>C | CA434869655 | IMPG2 | c.2658A>G (p.Gly886=) c.2364A>G (p.Gly788=) c.2247A>G (p.Gly749=) | |
3 | g.101243673T>G | CA434869656 | IMPG2 | c.2658A>C (p.Gly886=) c.2364A>C (p.Gly788=) c.2247A>C (p.Gly749=) | |
3 | g.101243674C>A | CA353856181 | IMPG2 | c.2657G>T (p.Gly886Val) c.2363G>T (p.Gly788Val) c.2246G>T (p.Gly749Val) | |
3 | g.101243674C= | CA1388615868 | IMPG2 | c.2657G= (p.Gly886=) c.2363G= (p.Gly788=) c.2246G= (p.Gly749=) | |
3 | g.101243674C>G | CA353856183 | IMPG2 | c.2657G>C (p.Gly886Ala) c.2363G>C (p.Gly788Ala) c.2246G>C (p.Gly749Ala) | |
3 | g.101243674C>T | CA353856180 | IMPG2 | c.2657G>A (p.Gly886Glu) c.2363G>A (p.Gly788Glu) c.2246G>A (p.Gly749Glu) | dbSNP gnomAD v2 |
3 | g.101243675C>A | CA353856184 | IMPG2 | c.2656G>T (p.Gly886Ter) c.2362G>T (p.Gly788Ter) c.2245G>T (p.Gly749Ter) | |
3 | g.101243675C>G | CA353856186 | IMPG2 | c.2656G>C (p.Gly886Arg) c.2362G>C (p.Gly788Arg) c.2245G>C (p.Gly749Arg) | |
3 | g.101243675C>T | CA353856187 | IMPG2 | c.2656G>A (p.Gly886Arg) c.2362G>A (p.Gly788Arg) c.2245G>A (p.Gly749Arg) | |
3 | g.101243676T>A | CA353856188 | IMPG2 | c.2655A>T (p.Glu885Asp) c.2361A>T (p.Glu787Asp) c.2244A>T (p.Glu748Asp) | |
3 | g.101243676T>C | CA434869663 | IMPG2 | c.2655A>G (p.Glu885=) c.2361A>G (p.Glu787=) c.2244A>G (p.Glu748=) | |
3 | g.101243676T>G | CA353856189 | IMPG2 | c.2655A>C (p.Glu885Asp) c.2361A>C (p.Glu787Asp) c.2244A>C (p.Glu748Asp) | |
3 | g.101243677T>A | CA353856190 | IMPG2 | c.2654A>T (p.Glu885Val) c.2360A>T (p.Glu787Val) c.2243A>T (p.Glu748Val) | |
3 | g.101243677T>C | CA79722176 | IMPG2 | c.2654A>G (p.Glu885Gly) c.2360A>G (p.Glu787Gly) c.2243A>G (p.Glu748Gly) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.101243677T>G | CA353856191 | IMPG2 | c.2654A>C (p.Glu885Ala) c.2360A>C (p.Glu787Ala) c.2243A>C (p.Glu748Ala) | |
3 | g.101243677T= | CA1388615869 | IMPG2 | c.2654A= (p.Glu885=) c.2360A= (p.Glu787=) c.2243A= (p.Glu748=) | |
3 | g.101243678C>A | CA353856192 | IMPG2 | c.2653G>T (p.Glu885Ter) c.2359G>T (p.Glu787Ter) c.2242G>T (p.Glu748Ter) | |
3 | g.101243678C>G | CA353856193 | IMPG2 | c.2653G>C (p.Glu885Gln) c.2359G>C (p.Glu787Gln) c.2242G>C (p.Glu748Gln) | |
3 | g.101243678C>T | CA353856194 | IMPG2 | c.2653G>A (p.Glu885Lys) c.2359G>A (p.Glu787Lys) c.2242G>A (p.Glu748Lys) | |
3 | g.101243679T>A | CA2518933 | IMPG2 | c.2652A>T (p.Thr884=) c.2358A>T (p.Thr786=) c.2241A>T (p.Thr747=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.101243679T>C | CA434869664 | IMPG2 | c.2652A>G (p.Thr884=) c.2358A>G (p.Thr786=) c.2241A>G (p.Thr747=) | |
3 | g.101243679T>G | CA79722193 | IMPG2 | c.2652A>C (p.Thr884=) c.2358A>C (p.Thr786=) c.2241A>C (p.Thr747=) | ClinVar dbSNP gnomAD v4 |
3 | g.101243679T= | CA1388615870 | IMPG2 | c.2652A= (p.Thr884=) c.2358A= (p.Thr786=) c.2241A= (p.Thr747=) | |
3 | g.101243680G>A | CA353856197 | IMPG2 | c.2651C>T (p.Thr884Ile) c.2357C>T (p.Thr786Ile) c.2240C>T (p.Thr747Ile) | gnomAD v4 |
3 | g.101243680G>C | CA353856198 | IMPG2 | c.2651C>G (p.Thr884Arg) c.2357C>G (p.Thr786Arg) c.2240C>G (p.Thr747Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.101243680G= | CA1388615871 | IMPG2 | c.2651C= (p.Thr884=) c.2357C= (p.Thr786=) c.2240C= (p.Thr747=) | |
3 | g.101243680G>T | CA353856195 | IMPG2 | c.2651C>A (p.Thr884Lys) c.2357C>A (p.Thr786Lys) c.2240C>A (p.Thr747Lys) | |
3 | g.101243681T>A | CA353856200 | IMPG2 | c.2650A>T (p.Thr884Ser) c.2356A>T (p.Thr786Ser) c.2239A>T (p.Thr747Ser) | |
3 | g.101243681T>C | CA353856201 | IMPG2 | c.2650A>G (p.Thr884Ala) c.2356A>G (p.Thr786Ala) c.2239A>G (p.Thr747Ala) | dbSNP |
3 | g.101243681T>G | CA353856203 | IMPG2 | c.2650A>C (p.Thr884Pro) c.2356A>C (p.Thr786Pro) c.2239A>C (p.Thr747Pro) | dbSNP |
3 | g.101243681T= | CA1388615872 | IMPG2 | c.2650A= (p.Thr884=) c.2356A= (p.Thr786=) c.2239A= (p.Thr747=) | |
3 | g.101243682G>A | CA434869669 | IMPG2 | c.2649C>T (p.Pro883=) c.2355C>T (p.Pro785=) c.2238C>T (p.Pro746=) | gnomAD v4 |
3 | g.101243682G>C | CA434869668 | IMPG2 | c.2649C>G (p.Pro883=) c.2355C>G (p.Pro785=) c.2238C>G (p.Pro746=) | |
3 | g.101243682G= | CA1388615873 | IMPG2 | c.2649C= (p.Pro883=) c.2355C= (p.Pro785=) c.2238C= (p.Pro746=) | |
3 | g.101243682G>T | CA2518934 | IMPG2 | c.2649C>A (p.Pro883=) c.2355C>A (p.Pro785=) c.2238C>A (p.Pro746=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.101243683G>A | CA353856210 | IMPG2 | c.2648C>T (p.Pro883Leu) c.2354C>T (p.Pro785Leu) c.2237C>T (p.Pro746Leu) | gnomAD v4 |
3 | g.101243683G>C | CA353856208 | IMPG2 | c.2648C>G (p.Pro883Arg) c.2354C>G (p.Pro785Arg) c.2237C>G (p.Pro746Arg) | |
3 | g.101243683G>T | CA353856206 | IMPG2 | c.2648C>A (p.Pro883His) c.2354C>A (p.Pro785His) c.2237C>A (p.Pro746His) | |
3 | g.101243684G>A | CA353856212 | IMPG2 | c.2647C>T (p.Pro883Ser) c.2353C>T (p.Pro785Ser) c.2236C>T (p.Pro746Ser) | |
3 | g.101243684G>C | CA353856213 | IMPG2 | c.2647C>G (p.Pro883Ala) c.2353C>G (p.Pro785Ala) c.2236C>G (p.Pro746Ala) | |
3 | g.101243684G>T | CA353856215 | IMPG2 | c.2647C>A (p.Pro883Thr) c.2353C>A (p.Pro785Thr) c.2236C>A (p.Pro746Thr) | |
3 | g.101243685C>A | CA353856217 | IMPG2 | c.2646G>T (p.Trp882Cys) c.2352G>T (p.Trp784Cys) c.2235G>T (p.Trp745Cys) | |
3 | g.101243685C>G | CA353856219 | IMPG2 | c.2646G>C (p.Trp882Cys) c.2352G>C (p.Trp784Cys) c.2235G>C (p.Trp745Cys) | |
3 | g.101243685C>T | CA353856220 | IMPG2 | c.2646G>A (p.Trp882Ter) c.2352G>A (p.Trp784Ter) c.2235G>A (p.Trp745Ter) | |
3 | g.101243686del | CA2666780746 | IMPG2 | c.2646del (p.Trp882CysfsTer9) c.2352del (p.Trp784CysfsTer9) c.2235del (p.Trp745CysfsTer9) | gnomAD v4 |
3 | g.101243686C>A | CA353856225 | IMPG2 | c.2645G>T (p.Trp882Leu) c.2351G>T (p.Trp784Leu) c.2234G>T (p.Trp745Leu) | dbSNP gnomAD v4 |
3 | g.101243686C= | CA1388615874 | IMPG2 | c.2645G= (p.Trp882=) c.2351G= (p.Trp784=) c.2234G= (p.Trp745=) | |
3 | g.101243686C>G | CA353856223 | IMPG2 | c.2645G>C (p.Trp882Ser) c.2351G>C (p.Trp784Ser) c.2234G>C (p.Trp745Ser) | |
3 | g.101243686C>T | CA353856221 | IMPG2 | c.2645G>A (p.Trp882Ter) c.2351G>A (p.Trp784Ter) c.2234G>A (p.Trp745Ter) | |
3 | g.101243687A= | CA1388615875 | IMPG2 | c.2644T= (p.Trp882=) c.2350T= (p.Trp784=) c.2233T= (p.Trp745=) | |
3 | g.101243687A>C | CA79722217 | IMPG2 | c.2644T>G (p.Trp882Gly) c.2350T>G (p.Trp784Gly) c.2233T>G (p.Trp745Gly) | dbSNP gnomAD v4 |
3 | g.101243687A>G | CA353856229 | IMPG2 | c.2644T>C (p.Trp882Arg) c.2350T>C (p.Trp784Arg) c.2233T>C (p.Trp745Arg) | |
3 | g.101243687A>T | CA353856227 | IMPG2 | c.2644T>A (p.Trp882Arg) c.2350T>A (p.Trp784Arg) c.2233T>A (p.Trp745Arg) | |
3 | g.101243688A>C | CA434869674 | IMPG2 | c.2643T>G (p.Ala881=) c.2349T>G (p.Ala783=) c.2232T>G (p.Ala744=) | |
3 | g.101243688A>G | CA434869673 | IMPG2 | c.2643T>C (p.Ala881=) c.2349T>C (p.Ala783=) c.2232T>C (p.Ala744=) | |
3 | g.101243688A>T | CA434869676 | IMPG2 | c.2643T>A (p.Ala881=) c.2349T>A (p.Ala783=) c.2232T>A (p.Ala744=) | |
3 | g.101243689G>A | CA353856230 | IMPG2 | c.2642C>T (p.Ala881Val) c.2348C>T (p.Ala783Val) c.2231C>T (p.Ala744Val) | |
3 | g.101243689G>C | CA353856232 | IMPG2 | c.2642C>G (p.Ala881Gly) c.2348C>G (p.Ala783Gly) c.2231C>G (p.Ala744Gly) | |
3 | g.101243689G>T | CA353856233 | IMPG2 | c.2642C>A (p.Ala881Asp) c.2348C>A (p.Ala783Asp) c.2231C>A (p.Ala744Asp) | |
3 | g.101243690C>A | CA353856234 | IMPG2 | c.2641G>T (p.Ala881Ser) c.2347G>T (p.Ala783Ser) c.2230G>T (p.Ala744Ser) | |
3 | g.101243690C>G | CA353856235 | IMPG2 | c.2641G>C (p.Ala881Pro) c.2347G>C (p.Ala783Pro) c.2230G>C (p.Ala744Pro) | |
3 | g.101243690C>T | CA353856237 | IMPG2 | c.2641G>A (p.Ala881Thr) c.2347G>A (p.Ala783Thr) c.2230G>A (p.Ala744Thr) | |
3 | g.101243691C>A | CA434869679 | IMPG2 | c.2640G>T (p.Val880=) c.2346G>T (p.Val782=) c.2229G>T (p.Val743=) | gnomAD v4 |
3 | g.101243691C>G | CA434869680 | IMPG2 | c.2640G>C (p.Val880=) c.2346G>C (p.Val782=) c.2229G>C (p.Val743=) | |
3 | g.101243691C>T | CA434869682 | IMPG2 | c.2640G>A (p.Val880=) c.2346G>A (p.Val782=) c.2229G>A (p.Val743=) | |
3 | g.101243692A>C | CA353856239 | IMPG2 | c.2639T>G (p.Val880Gly) c.2345T>G (p.Val782Gly) c.2228T>G (p.Val743Gly) | |
3 | g.101243692A>G | CA353856240 | IMPG2 | c.2639T>C (p.Val880Ala) c.2345T>C (p.Val782Ala) c.2228T>C (p.Val743Ala) | |
3 | g.101243692A>T | CA353856242 | IMPG2 | c.2639T>A (p.Val880Glu) c.2345T>A (p.Val782Glu) c.2228T>A (p.Val743Glu) | |
3 | g.101243693C>A | CA353856244 | IMPG2 | c.2638G>T (p.Val880Leu) c.2344G>T (p.Val782Leu) c.2227G>T (p.Val743Leu) | |
3 | g.101243693C= | CA1388615876 | IMPG2 | c.2638G= (p.Val880=) c.2344G= (p.Val782=) c.2227G= (p.Val743=) | |
3 | g.101243693C>G | CA353856246 | IMPG2 | c.2638G>C (p.Val880Leu) c.2344G>C (p.Val782Leu) c.2227G>C (p.Val743Leu) | |
3 | g.101243693C>T | CA2518935 | IMPG2 | c.2638G>A (p.Val880Met) c.2344G>A (p.Val782Met) c.2227G>A (p.Val743Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243694A= | CA1388615877 | IMPG2 | c.2637T= (p.Ser879=) c.2343T= (p.Ser781=) c.2226T= (p.Ser742=) | |
3 | g.101243694A>C | CA353856249 | IMPG2 | c.2637T>G (p.Ser879Arg) c.2343T>G (p.Ser781Arg) c.2226T>G (p.Ser742Arg) | |
3 | g.101243694A>G | CA434869685 | IMPG2 | c.2637T>C (p.Ser879=) c.2343T>C (p.Ser781=) c.2226T>C (p.Ser742=) | |
3 | g.101243694A>T | CA353856250 | IMPG2 | c.2637T>A (p.Ser879Arg) c.2343T>A (p.Ser781Arg) c.2226T>A (p.Ser742Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243695C>A | CA353856252 | IMPG2 | c.2636G>T (p.Ser879Ile) c.2342G>T (p.Ser781Ile) c.2225G>T (p.Ser742Ile) | |
3 | g.101243695C= | CA1388615878 | IMPG2 | c.2636G= (p.Ser879=) c.2342G= (p.Ser781=) c.2225G= (p.Ser742=) | |
3 | g.101243695C>G | CA2518936 | IMPG2 | c.2636G>C (p.Ser879Thr) c.2342G>C (p.Ser781Thr) c.2225G>C (p.Ser742Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.101243695C>T | CA353856254 | IMPG2 | c.2636G>A (p.Ser879Asn) c.2342G>A (p.Ser781Asn) c.2225G>A (p.Ser742Asn) | gnomAD v4 |
3 | g.101243696T>A | CA353856257 | IMPG2 | c.2635A>T (p.Ser879Cys) c.2341A>T (p.Ser781Cys) c.2224A>T (p.Ser742Cys) | |
3 | g.101243696T>C | CA353856259 | IMPG2 | c.2635A>G (p.Ser879Gly) c.2341A>G (p.Ser781Gly) c.2224A>G (p.Ser742Gly) | ClinVar dbSNP |
3 | g.101243696T>G | CA353856260 | IMPG2 | c.2635A>C (p.Ser879Arg) c.2341A>C (p.Ser781Arg) c.2224A>C (p.Ser742Arg) | |
3 | g.101243696T= | CA1388615879 | IMPG2 | c.2635A= (p.Ser879=) c.2341A= (p.Ser781=) c.2224A= (p.Ser742=) | |
3 | g.101243697A>C | CA434869689 | IMPG2 | c.2634T>G (p.Val878=) c.2340T>G (p.Val780=) c.2223T>G (p.Val741=) | |
3 | g.101243697A>G | CA434869690 | IMPG2 | c.2634T>C (p.Val878=) c.2340T>C (p.Val780=) c.2223T>C (p.Val741=) | |
3 | g.101243697A>T | CA434869691 | IMPG2 | c.2634T>A (p.Val878=) c.2340T>A (p.Val780=) c.2223T>A (p.Val741=) | |
3 | g.101243698A= | CA1388615880 | IMPG2 | c.2633T= (p.Val878=) c.2339T= (p.Val780=) c.2222T= (p.Val741=) | |
3 | g.101243698A>C | CA353856263 | IMPG2 | c.2633T>G (p.Val878Gly) c.2339T>G (p.Val780Gly) c.2222T>G (p.Val741Gly) | |
3 | g.101243698A>G | CA2518937 | IMPG2 | c.2633T>C (p.Val878Ala) c.2339T>C (p.Val780Ala) c.2222T>C (p.Val741Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243698A>T | CA353856266 | IMPG2 | c.2633T>A (p.Val878Asp) c.2339T>A (p.Val780Asp) c.2222T>A (p.Val741Asp) | COSMIC |
3 | g.101243699C>A | CA353856269 | IMPG2 | c.2632G>T (p.Val878Phe) c.2338G>T (p.Val780Phe) c.2221G>T (p.Val741Phe) | gnomAD v4 |
3 | g.101243699C>G | CA353856270 | IMPG2 | c.2632G>C (p.Val878Leu) c.2338G>C (p.Val780Leu) c.2221G>C (p.Val741Leu) | |
3 | g.101243699C>T | CA353856271 | IMPG2 | c.2632G>A (p.Val878Ile) c.2338G>A (p.Val780Ile) c.2221G>A (p.Val741Ile) | |
3 | g.101243700C>A | CA353856272 | IMPG2 | c.2631G>T (p.Met877Ile) c.2337G>T (p.Met779Ile) c.2220G>T (p.Met740Ile) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.101243700C= | CA1388615881 | IMPG2 | c.2631G= (p.Met877=) c.2337G= (p.Met779=) c.2220G= (p.Met740=) | |
3 | g.101243700C>G | CA353856273 | IMPG2 | c.2631G>C (p.Met877Ile) c.2337G>C (p.Met779Ile) c.2220G>C (p.Met740Ile) | dbSNP |
3 | g.101243700C>T | CA2518938 | IMPG2 | c.2631G>A (p.Met877Ile) c.2337G>A (p.Met779Ile) c.2220G>A (p.Met740Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243701A>C | CA353856275 | IMPG2 | c.2630T>G (p.Met877Arg) c.2336T>G (p.Met779Arg) c.2219T>G (p.Met740Arg) | |
3 | g.101243701A>G | CA353856277 | IMPG2 | c.2630T>C (p.Met877Thr) c.2336T>C (p.Met779Thr) c.2219T>C (p.Met740Thr) | |
3 | g.101243701A>T | CA353856278 | IMPG2 | c.2630T>A (p.Met877Lys) c.2336T>A (p.Met779Lys) c.2219T>A (p.Met740Lys) | |
3 | g.101243702T>A | CA353856280 | IMPG2 | c.2629A>T (p.Met877Leu) c.2335A>T (p.Met779Leu) c.2218A>T (p.Met740Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243702T>C | CA353856283 | IMPG2 | c.2629A>G (p.Met877Val) c.2335A>G (p.Met779Val) c.2218A>G (p.Met740Val) | |
3 | g.101243702T>G | CA353856284 | IMPG2 | c.2629A>C (p.Met877Leu) c.2335A>C (p.Met779Leu) c.2218A>C (p.Met740Leu) | ClinVar dbSNP gnomAD v2 |
3 | g.101243702T= | CA1388615882 | IMPG2 | c.2629A= (p.Met877=) c.2335A= (p.Met779=) c.2218A= (p.Met740=) | |
3 | g.101243703C>A | CA353856286 | IMPG2 | c.2628G>T (p.Glu876Asp) c.2334G>T (p.Glu778Asp) c.2217G>T (p.Glu739Asp) | |
3 | g.101243703C= | CA1388615883 | IMPG2 | c.2628G= (p.Glu876=) c.2334G= (p.Glu778=) c.2217G= (p.Glu739=) | |
3 | g.101243703C>G | CA353856288 | IMPG2 | c.2628G>C (p.Glu876Asp) c.2334G>C (p.Glu778Asp) c.2217G>C (p.Glu739Asp) | |
3 | g.101243703C>T | CA434869697 | IMPG2 | c.2628G>A (p.Glu876=) c.2334G>A (p.Glu778=) c.2217G>A (p.Glu739=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243704T>A | CA353856290 | IMPG2 | c.2627A>T (p.Glu876Val) c.2333A>T (p.Glu778Val) c.2216A>T (p.Glu739Val) | |
3 | g.101243704T>C | CA353856293 | IMPG2 | c.2627A>G (p.Glu876Gly) c.2333A>G (p.Glu778Gly) c.2216A>G (p.Glu739Gly) | |
3 | g.101243704T>G | CA353856295 | IMPG2 | c.2627A>C (p.Glu876Ala) c.2333A>C (p.Glu778Ala) c.2216A>C (p.Glu739Ala) | |
3 | g.101243705C>A | CA353856301 | IMPG2 | c.2626G>T (p.Glu876Ter) c.2332G>T (p.Glu778Ter) c.2215G>T (p.Glu739Ter) | |
3 | g.101243705C>G | CA353856299 | IMPG2 | c.2626G>C (p.Glu876Gln) c.2332G>C (p.Glu778Gln) c.2215G>C (p.Glu739Gln) | |
3 | g.101243705C>T | CA353856296 | IMPG2 | c.2626G>A (p.Glu876Lys) c.2332G>A (p.Glu778Lys) c.2215G>A (p.Glu739Lys) | |
3 | g.101243706T>A | CA434869701 | IMPG2 | c.2625A>T (p.Thr875=) c.2331A>T (p.Thr777=) c.2214A>T (p.Thr738=) | gnomAD v4 |
3 | g.101243706T>C | CA434869703 | IMPG2 | c.2625A>G (p.Thr875=) c.2331A>G (p.Thr777=) c.2214A>G (p.Thr738=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243706T>G | CA434869704 | IMPG2 | c.2625A>C (p.Thr875=) c.2331A>C (p.Thr777=) c.2214A>C (p.Thr738=) | |
3 | g.101243706T= | CA1388615884 | IMPG2 | c.2625A= (p.Thr875=) c.2331A= (p.Thr777=) c.2214A= (p.Thr738=) | |
3 | g.101243707G>A | CA2518939 | IMPG2 | c.2624C>T (p.Thr875Ile) c.2330C>T (p.Thr777Ile) c.2213C>T (p.Thr738Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.101243707G>C | CA353856304 | IMPG2 | c.2624C>G (p.Thr875Arg) c.2330C>G (p.Thr777Arg) c.2213C>G (p.Thr738Arg) | |
3 | g.101243707G= | CA1388615885 | IMPG2 | c.2624C= (p.Thr875=) c.2330C= (p.Thr777=) c.2213C= (p.Thr738=) | |
3 | g.101243707G>T | CA353856307 | IMPG2 | c.2624C>A (p.Thr875Lys) c.2330C>A (p.Thr777Lys) c.2213C>A (p.Thr738Lys) | |
3 | g.101243708T>A | CA353856309 | IMPG2 | c.2623A>T (p.Thr875Ser) c.2329A>T (p.Thr777Ser) c.2212A>T (p.Thr738Ser) | |
3 | g.101243708T>C | CA353856312 | IMPG2 | c.2623A>G (p.Thr875Ala) c.2329A>G (p.Thr777Ala) c.2212A>G (p.Thr738Ala) | |
3 | g.101243708T>G | CA353856314 | IMPG2 | c.2623A>C (p.Thr875Pro) c.2329A>C (p.Thr777Pro) c.2212A>C (p.Thr738Pro) | |
3 | g.101243709G>A | CA434869710 | IMPG2 | c.2622C>T (p.Ser874=) c.2328C>T (p.Ser776=) c.2211C>T (p.Ser737=) | |
3 | g.101243709G>C | CA434869708 | IMPG2 | c.2622C>G (p.Ser874=) c.2328C>G (p.Ser776=) c.2211C>G (p.Ser737=) | |
3 | g.101243709G>T | CA434869707 | IMPG2 | c.2622C>A (p.Ser874=) c.2328C>A (p.Ser776=) c.2211C>A (p.Ser737=) | |
3 | g.101243710G>A | CA353856318 | IMPG2 | c.2621C>T (p.Ser874Phe) c.2327C>T (p.Ser776Phe) c.2210C>T (p.Ser737Phe) | |
3 | g.101243710G>C | CA353856320 | IMPG2 | c.2621C>G (p.Ser874Cys) c.2327C>G (p.Ser776Cys) c.2210C>G (p.Ser737Cys) | |
3 | g.101243710G>T | CA353856321 | IMPG2 | c.2621C>A (p.Ser874Tyr) c.2327C>A (p.Ser776Tyr) c.2210C>A (p.Ser737Tyr) | gnomAD v4 |
3 | g.101243711A= | CA1388615886 | IMPG2 | c.2620T= (p.Ser874=) c.2326T= (p.Ser776=) c.2209T= (p.Ser737=) | |
3 | g.101243711A>C | CA353856324 | IMPG2 | c.2620T>G (p.Ser874Ala) c.2326T>G (p.Ser776Ala) c.2209T>G (p.Ser737Ala) | dbSNP gnomAD v4 |
3 | g.101243711A>G | CA353856327 | IMPG2 | c.2620T>C (p.Ser874Pro) c.2326T>C (p.Ser776Pro) c.2209T>C (p.Ser737Pro) | |
3 | g.101243711A>T | CA353856328 | IMPG2 | c.2620T>A (p.Ser874Thr) c.2326T>A (p.Ser776Thr) c.2209T>A (p.Ser737Thr) | |
3 | g.101243712G>A | CA2518940 | IMPG2 | c.2619C>T (p.His873=) c.2325C>T (p.His775=) c.2208C>T (p.His736=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.101243712G>C | CA353856335 | IMPG2 | c.2619C>G (p.His873Gln) c.2325C>G (p.His775Gln) c.2208C>G (p.His736Gln) | |
3 | g.101243712G= | CA1388615887 | IMPG2 | c.2619C= (p.His873=) c.2325C= (p.His775=) c.2208C= (p.His736=) | |
3 | g.101243712G>T | CA353856332 | IMPG2 | c.2619C>A (p.His873Gln) c.2325C>A (p.His775Gln) c.2208C>A (p.His736Gln) | |
3 | g.101243713T>A | CA353856337 | IMPG2 | c.2618A>T (p.His873Leu) c.2324A>T (p.His775Leu) c.2207A>T (p.His736Leu) | |
3 | g.101243713T>C | CA353856340 | IMPG2 | c.2618A>G (p.His873Arg) c.2324A>G (p.His775Arg) c.2207A>G (p.His736Arg) | |
3 | g.101243713T>G | CA353856342 | IMPG2 | c.2618A>C (p.His873Pro) c.2324A>C (p.His775Pro) c.2207A>C (p.His736Pro) | |
3 | g.101243714del | CA434869718 | IMPG2 | c.2617del (p.His873ThrfsTer18) c.2323del (p.His775ThrfsTer18) c.2206del (p.His736ThrfsTer18) | COSMIC |
3 | g.101243714G>A | CA353856346 | IMPG2 | c.2617C>T (p.His873Tyr) c.2323C>T (p.His775Tyr) c.2206C>T (p.His736Tyr) | |
3 | g.101243714G>C | CA353856348 | IMPG2 | c.2617C>G (p.His873Asp) c.2323C>G (p.His775Asp) c.2206C>G (p.His736Asp) | |
3 | g.101243714G>T | CA353856350 | IMPG2 | c.2617C>A (p.His873Asn) c.2323C>A (p.His775Asn) c.2206C>A (p.His736Asn) | |
3 | g.101243715A>C | CA434869719 | IMPG2 | c.2616T>G (p.Val872=) c.2322T>G (p.Val774=) c.2205T>G (p.Val735=) | |
3 | g.101243715A>G | CA434869721 | IMPG2 | c.2616T>C (p.Val872=) c.2322T>C (p.Val774=) c.2205T>C (p.Val735=) | |
3 | g.101243715A>T | CA434869720 | IMPG2 | c.2616T>A (p.Val872=) c.2322T>A (p.Val774=) c.2205T>A (p.Val735=) | |
3 | g.101243716A= | CA1388615888 | IMPG2 | c.2615T= (p.Val872=) c.2321T= (p.Val774=) c.2204T= (p.Val735=) | |
3 | g.101243716A>C | CA353856352 | IMPG2 | c.2615T>G (p.Val872Gly) c.2321T>G (p.Val774Gly) c.2204T>G (p.Val735Gly) | |
3 | g.101243716A>G | CA353856354 | IMPG2 | c.2615T>C (p.Val872Ala) c.2321T>C (p.Val774Ala) c.2204T>C (p.Val735Ala) | dbSNP |
3 | g.101243716A>T | CA353856355 | IMPG2 | c.2615T>A (p.Val872Asp) c.2321T>A (p.Val774Asp) c.2204T>A (p.Val735Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243717C>A | CA353856356 | IMPG2 | c.2614G>T (p.Val872Phe) c.2320G>T (p.Val774Phe) c.2203G>T (p.Val735Phe) | |
3 | g.101243717C= | CA1388615889 | IMPG2 | c.2614G= (p.Val872=) c.2320G= (p.Val774=) c.2203G= (p.Val735=) | |
3 | g.101243717C>G | CA353856359 | IMPG2 | c.2614G>C (p.Val872Leu) c.2320G>C (p.Val774Leu) c.2203G>C (p.Val735Leu) | |
3 | g.101243717C>T | CA2518941 | IMPG2 | c.2614G>A (p.Val872Ile) c.2320G>A (p.Val774Ile) c.2203G>A (p.Val735Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243718A>C | CA353856361 | IMPG2 | c.2613T>G (p.Ser871Arg) c.2319T>G (p.Ser773Arg) c.2202T>G (p.Ser734Arg) | |
3 | g.101243718A>G | CA434869724 | IMPG2 | c.2613T>C (p.Ser871=) c.2319T>C (p.Ser773=) c.2202T>C (p.Ser734=) | gnomAD v4 |
3 | g.101243718A>T | CA353856362 | IMPG2 | c.2613T>A (p.Ser871Arg) c.2319T>A (p.Ser773Arg) c.2202T>A (p.Ser734Arg) | |
3 | g.101243719C>A | CA353856368 | IMPG2 | c.2612G>T (p.Ser871Ile) c.2318G>T (p.Ser773Ile) c.2201G>T (p.Ser734Ile) | |
3 | g.101243719C= | CA1388615890 | IMPG2 | c.2612G= (p.Ser871=) c.2318G= (p.Ser773=) c.2201G= (p.Ser734=) | |
3 | g.101243719C>G | CA353856366 | IMPG2 | c.2612G>C (p.Ser871Thr) c.2318G>C (p.Ser773Thr) c.2201G>C (p.Ser734Thr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.101243719C>T | CA353856364 | IMPG2 | c.2612G>A (p.Ser871Asn) c.2318G>A (p.Ser773Asn) c.2201G>A (p.Ser734Asn) | gnomAD v4 |
3 | g.101243720T>A | CA353856370 | IMPG2 | c.2611A>T (p.Ser871Cys) c.2317A>T (p.Ser773Cys) c.2200A>T (p.Ser734Cys) | |
3 | g.101243720T>C | CA353856372 | IMPG2 | c.2611A>G (p.Ser871Gly) c.2317A>G (p.Ser773Gly) c.2200A>G (p.Ser734Gly) | |
3 | g.101243720T>G | CA353856373 | IMPG2 | c.2611A>C (p.Ser871Arg) c.2317A>C (p.Ser773Arg) c.2200A>C (p.Ser734Arg) | |
3 | g.101243721T>A | CA434869729 | IMPG2 | c.2610A>T (p.Thr870=) c.2316A>T (p.Thr772=) c.2199A>T (p.Thr733=) | |
3 | g.101243721T>C | CA434869730 | IMPG2 | c.2610A>G (p.Thr870=) c.2316A>G (p.Thr772=) c.2199A>G (p.Thr733=) | |
3 | g.101243721T>G | CA2518942 | IMPG2 | c.2610A>C (p.Thr870=) c.2316A>C (p.Thr772=) c.2199A>C (p.Thr733=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243721T= | CA1388615891 | IMPG2 | c.2610A= (p.Thr870=) c.2316A= (p.Thr772=) c.2199A= (p.Thr733=) |