Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.64789582C>A | CA474976862 | MAP4K2 | c.2418G>T (p.Ala806=) c.2394G>T (p.Ala798=) c.730G>T c.2365G>T (n.2365G>T) c.*2218G>T (n.*2218G>T) n.1360G>T c.2349G>T (p.Ala783=) c.2286G>T (p.Ala762=) c.2262G>T (p.Ala754=) c.1818G>T (p.Ala606=) c.2538G>T (p.Ala846=) c.2469G>T (p.Ala823=) c.2406G>T (p.Ala802=) c.2007G>T (p.Ala669=) n.2632G>T | gnomAD v4 |
11 | g.64789582C= | CA1978888781 | MAP4K2 | c.2418G= (p.Ala806=) c.2394G= (p.Ala798=) c.730G= c.2365G= (n.2365G=) c.*2218G= (n.*2218G=) n.1360G= c.2349G= (p.Ala783=) c.2286G= (p.Ala762=) c.2262G= (p.Ala754=) c.1818G= (p.Ala606=) c.2538G= (p.Ala846=) c.2469G= (p.Ala823=) c.2406G= (p.Ala802=) c.2007G= (p.Ala669=) n.2632G= | |
11 | g.64789582C>G | CA474976864 | MAP4K2 | c.2418G>C (p.Ala806=) c.2394G>C (p.Ala798=) c.730G>C c.2365G>C (n.2365G>C) c.*2218G>C (n.*2218G>C) n.1360G>C c.2349G>C (p.Ala783=) c.2286G>C (p.Ala762=) c.2262G>C (p.Ala754=) c.1818G>C (p.Ala606=) c.2538G>C (p.Ala846=) c.2469G>C (p.Ala823=) c.2406G>C (p.Ala802=) c.2007G>C (p.Ala669=) n.2632G>C | |
11 | g.64789582C>T | CA6081128 | MAP4K2 | c.2418G>A (p.Ala806=) c.2394G>A (p.Ala798=) c.730G>A c.2365G>A (n.2365G>A) c.*2218G>A (n.*2218G>A) n.1360G>A c.2349G>A (p.Ala783=) c.2286G>A (p.Ala762=) c.2262G>A (p.Ala754=) c.1818G>A (p.Ala606=) c.2538G>A (p.Ala846=) c.2469G>A (p.Ala823=) c.2406G>A (p.Ala802=) c.2007G>A (p.Ala669=) n.2632G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64789583G>A | CA6081129 | MAP4K2 | c.2417C>T (p.Ala806Val) c.2393C>T (p.Ala798Val) c.729C>T c.2364C>T (n.2364C>T) c.*2217C>T (n.*2217C>T) n.1359C>T c.2348C>T (p.Ala783Val) c.2285C>T (p.Ala762Val) c.2261C>T (p.Ala754Val) c.1817C>T (p.Ala606Val) c.2537C>T (p.Ala846Val) c.2468C>T (p.Ala823Val) c.2405C>T (p.Ala802Val) c.2006C>T (p.Ala669Val) n.2631C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64789583G>C | CA381148812 | MAP4K2 | c.2417C>G (p.Ala806Gly) c.2393C>G (p.Ala798Gly) c.729C>G c.2364C>G (n.2364C>G) c.*2217C>G (n.*2217C>G) n.1359C>G c.2348C>G (p.Ala783Gly) c.2285C>G (p.Ala762Gly) c.2261C>G (p.Ala754Gly) c.1817C>G (p.Ala606Gly) c.2537C>G (p.Ala846Gly) c.2468C>G (p.Ala823Gly) c.2405C>G (p.Ala802Gly) c.2006C>G (p.Ala669Gly) n.2631C>G | |
11 | g.64789583G= | CA1978888798 | MAP4K2 | c.2417C= (p.Ala806=) c.2393C= (p.Ala798=) c.729C= c.2364C= (n.2364C=) c.*2217C= (n.*2217C=) n.1359C= c.2348C= (p.Ala783=) c.2285C= (p.Ala762=) c.2261C= (p.Ala754=) c.1817C= (p.Ala606=) c.2537C= (p.Ala846=) c.2468C= (p.Ala823=) c.2405C= (p.Ala802=) c.2006C= (p.Ala669=) n.2631C= | |
11 | g.64789583G>T | CA381148814 | MAP4K2 | c.2417C>A (p.Ala806Glu) c.2393C>A (p.Ala798Glu) c.729C>A c.2364C>A (n.2364C>A) c.*2217C>A (n.*2217C>A) n.1359C>A c.2348C>A (p.Ala783Glu) c.2285C>A (p.Ala762Glu) c.2261C>A (p.Ala754Glu) c.1817C>A (p.Ala606Glu) c.2537C>A (p.Ala846Glu) c.2468C>A (p.Ala823Glu) c.2405C>A (p.Ala802Glu) c.2006C>A (p.Ala669Glu) n.2631C>A | gnomAD v4 |
11 | g.64789584C>A | CA381148816 | MAP4K2 | c.2416G>T (p.Ala806Ser) c.2392G>T (p.Ala798Ser) c.728G>T c.2363G>T (n.2363G>T) c.*2216G>T (n.*2216G>T) n.1358G>T c.2347G>T (p.Ala783Ser) c.2284G>T (p.Ala762Ser) c.2260G>T (p.Ala754Ser) c.1816G>T (p.Ala606Ser) c.2536G>T (p.Ala846Ser) c.2467G>T (p.Ala823Ser) c.2404G>T (p.Ala802Ser) c.2005G>T (p.Ala669Ser) n.2630G>T | |
11 | g.64789584C>G | CA381148819 | MAP4K2 | c.2416G>C (p.Ala806Pro) c.2392G>C (p.Ala798Pro) c.728G>C c.2363G>C (n.2363G>C) c.*2216G>C (n.*2216G>C) n.1358G>C c.2347G>C (p.Ala783Pro) c.2284G>C (p.Ala762Pro) c.2260G>C (p.Ala754Pro) c.1816G>C (p.Ala606Pro) c.2536G>C (p.Ala846Pro) c.2467G>C (p.Ala823Pro) c.2404G>C (p.Ala802Pro) c.2005G>C (p.Ala669Pro) n.2630G>C | |
11 | g.64789584C>T | CA381148824 | MAP4K2 | c.2416G>A (p.Ala806Thr) c.2392G>A (p.Ala798Thr) c.728G>A c.2363G>A (n.2363G>A) c.*2216G>A (n.*2216G>A) n.1358G>A c.2347G>A (p.Ala783Thr) c.2284G>A (p.Ala762Thr) c.2260G>A (p.Ala754Thr) c.1816G>A (p.Ala606Thr) c.2536G>A (p.Ala846Thr) c.2467G>A (p.Ala823Thr) c.2404G>A (p.Ala802Thr) c.2005G>A (p.Ala669Thr) n.2630G>A | gnomAD v4 |
11 | g.64789585C>A | CA381148829 | MAP4K2 | c.2415G>T (p.Glu805Asp) c.2391G>T (p.Glu797Asp) c.727G>T c.2362G>T (n.2362G>T) c.*2215G>T (n.*2215G>T) n.1357G>T c.2346G>T (p.Glu782Asp) c.2283G>T (p.Glu761Asp) c.2259G>T (p.Glu753Asp) c.1815G>T (p.Glu605Asp) c.2535G>T (p.Glu845Asp) c.2466G>T (p.Glu822Asp) c.2403G>T (p.Glu801Asp) c.2004G>T (p.Glu668Asp) n.2629G>T | |
11 | g.64789585C= | CA1978888804 | MAP4K2 | c.2415G= (p.Glu805=) c.2391G= (p.Glu797=) c.727G= c.2362G= (n.2362G=) c.*2215G= (n.*2215G=) n.1357G= c.2346G= (p.Glu782=) c.2283G= (p.Glu761=) c.2259G= (p.Glu753=) c.1815G= (p.Glu605=) c.2535G= (p.Glu845=) c.2466G= (p.Glu822=) c.2403G= (p.Glu801=) c.2004G= (p.Glu668=) n.2629G= | |
11 | g.64789585C>G | CA381148833 | MAP4K2 | c.2415G>C (p.Glu805Asp) c.2391G>C (p.Glu797Asp) c.727G>C c.2362G>C (n.2362G>C) c.*2215G>C (n.*2215G>C) n.1357G>C c.2346G>C (p.Glu782Asp) c.2283G>C (p.Glu761Asp) c.2259G>C (p.Glu753Asp) c.1815G>C (p.Glu605Asp) c.2535G>C (p.Glu845Asp) c.2466G>C (p.Glu822Asp) c.2403G>C (p.Glu801Asp) c.2004G>C (p.Glu668Asp) n.2629G>C | |
11 | g.64789585C>T | CA223902143 | MAP4K2 | c.2415G>A (p.Glu805=) c.2391G>A (p.Glu797=) c.727G>A c.2362G>A (n.2362G>A) c.*2215G>A (n.*2215G>A) n.1357G>A c.2346G>A (p.Glu782=) c.2283G>A (p.Glu761=) c.2259G>A (p.Glu753=) c.1815G>A (p.Glu605=) c.2535G>A (p.Glu845=) c.2466G>A (p.Glu822=) c.2403G>A (p.Glu801=) c.2004G>A (p.Glu668=) n.2629G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64789586T>A | CA381148838 | MAP4K2 | c.2414A>T (p.Glu805Val) c.2390A>T (p.Glu797Val) c.726A>T c.2361A>T (n.2361A>T) c.*2214A>T (n.*2214A>T) n.1356A>T c.2345A>T (p.Glu782Val) c.2282A>T (p.Glu761Val) c.2258A>T (p.Glu753Val) c.1814A>T (p.Glu605Val) c.2534A>T (p.Glu845Val) c.2465A>T (p.Glu822Val) c.2402A>T (p.Glu801Val) c.2003A>T (p.Glu668Val) n.2628A>T | |
11 | g.64789586T>C | CA381148845 | MAP4K2 | c.2414A>G (p.Glu805Gly) c.2390A>G (p.Glu797Gly) c.726A>G c.2361A>G (n.2361A>G) c.*2214A>G (n.*2214A>G) n.1356A>G c.2345A>G (p.Glu782Gly) c.2282A>G (p.Glu761Gly) c.2258A>G (p.Glu753Gly) c.1814A>G (p.Glu605Gly) c.2534A>G (p.Glu845Gly) c.2465A>G (p.Glu822Gly) c.2402A>G (p.Glu801Gly) c.2003A>G (p.Glu668Gly) n.2628A>G | gnomAD v4 |
11 | g.64789586T>G | CA381148840 | MAP4K2 | c.2414A>C (p.Glu805Ala) c.2390A>C (p.Glu797Ala) c.726A>C c.2361A>C (n.2361A>C) c.*2214A>C (n.*2214A>C) n.1356A>C c.2345A>C (p.Glu782Ala) c.2282A>C (p.Glu761Ala) c.2258A>C (p.Glu753Ala) c.1814A>C (p.Glu605Ala) c.2534A>C (p.Glu845Ala) c.2465A>C (p.Glu822Ala) c.2402A>C (p.Glu801Ala) c.2003A>C (p.Glu668Ala) n.2628A>C | |
11 | g.64789587C>A | CA381148852 | MAP4K2 | c.2413G>T (p.Glu805Ter) c.2389G>T (p.Glu797Ter) c.725G>T c.2360G>T (n.2360G>T) c.*2213G>T (n.*2213G>T) n.1355G>T c.2344G>T (p.Glu782Ter) c.2281G>T (p.Glu761Ter) c.2257G>T (p.Glu753Ter) c.1813G>T (p.Glu605Ter) c.2533G>T (p.Glu845Ter) c.2464G>T (p.Glu822Ter) c.2401G>T (p.Glu801Ter) c.2002G>T (p.Glu668Ter) n.2627G>T | |
11 | g.64789587C= | CA1978888806 | MAP4K2 | c.2413G= (p.Glu805=) c.2389G= (p.Glu797=) c.725G= c.2360G= (n.2360G=) c.*2213G= (n.*2213G=) n.1355G= c.2344G= (p.Glu782=) c.2281G= (p.Glu761=) c.2257G= (p.Glu753=) c.1813G= (p.Glu605=) c.2533G= (p.Glu845=) c.2464G= (p.Glu822=) c.2401G= (p.Glu801=) c.2002G= (p.Glu668=) n.2627G= | |
11 | g.64789587C>G | CA381148855 | MAP4K2 | c.2413G>C (p.Glu805Gln) c.2389G>C (p.Glu797Gln) c.725G>C c.2360G>C (n.2360G>C) c.*2213G>C (n.*2213G>C) n.1355G>C c.2344G>C (p.Glu782Gln) c.2281G>C (p.Glu761Gln) c.2257G>C (p.Glu753Gln) c.1813G>C (p.Glu605Gln) c.2533G>C (p.Glu845Gln) c.2464G>C (p.Glu822Gln) c.2401G>C (p.Glu801Gln) c.2002G>C (p.Glu668Gln) n.2627G>C | |
11 | g.64789587C>T | CA381148857 | MAP4K2 | c.2413G>A (p.Glu805Lys) c.2389G>A (p.Glu797Lys) c.725G>A c.2360G>A (n.2360G>A) c.*2213G>A (n.*2213G>A) n.1355G>A c.2344G>A (p.Glu782Lys) c.2281G>A (p.Glu761Lys) c.2257G>A (p.Glu753Lys) c.1813G>A (p.Glu605Lys) c.2533G>A (p.Glu845Lys) c.2464G>A (p.Glu822Lys) c.2401G>A (p.Glu801Lys) c.2002G>A (p.Glu668Lys) n.2627G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.64789588T>A | CA474976865 | MAP4K2 | c.2412A>T (p.Pro804=) c.2388A>T (p.Pro796=) c.724A>T c.2359A>T (n.2359A>T) c.*2212A>T (n.*2212A>T) n.1354A>T c.2343A>T (p.Pro781=) c.2280A>T (p.Pro760=) c.2256A>T (p.Pro752=) c.1812A>T (p.Pro604=) c.2532A>T (p.Pro844=) c.2463A>T (p.Pro821=) c.2400A>T (p.Pro800=) c.2001A>T (p.Pro667=) n.2626A>T | |
11 | g.64789588T>C | CA474976867 | MAP4K2 | c.2412A>G (p.Pro804=) c.2388A>G (p.Pro796=) c.724A>G c.2359A>G (n.2359A>G) c.*2212A>G (n.*2212A>G) n.1354A>G c.2343A>G (p.Pro781=) c.2280A>G (p.Pro760=) c.2256A>G (p.Pro752=) c.1812A>G (p.Pro604=) c.2532A>G (p.Pro844=) c.2463A>G (p.Pro821=) c.2400A>G (p.Pro800=) c.2001A>G (p.Pro667=) n.2626A>G | gnomAD v4 |
11 | g.64789588T>G | CA474976866 | MAP4K2 | c.2412A>C (p.Pro804=) c.2388A>C (p.Pro796=) c.724A>C c.2359A>C (n.2359A>C) c.*2212A>C (n.*2212A>C) n.1354A>C c.2343A>C (p.Pro781=) c.2280A>C (p.Pro760=) c.2256A>C (p.Pro752=) c.1812A>C (p.Pro604=) c.2532A>C (p.Pro844=) c.2463A>C (p.Pro821=) c.2400A>C (p.Pro800=) c.2001A>C (p.Pro667=) n.2626A>C | |
11 | g.64789589G>A | CA381148861 | MAP4K2 | c.2411C>T (p.Pro804Leu) c.2387C>T (p.Pro796Leu) c.723C>T c.2358C>T (n.2358C>T) c.*2211C>T (n.*2211C>T) n.1353C>T c.2342C>T (p.Pro781Leu) c.2279C>T (p.Pro760Leu) c.2255C>T (p.Pro752Leu) c.1811C>T (p.Pro604Leu) c.2531C>T (p.Pro844Leu) c.2462C>T (p.Pro821Leu) c.2399C>T (p.Pro800Leu) c.2000C>T (p.Pro667Leu) n.2625C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.64789589G>C | CA381148865 | MAP4K2 | c.2411C>G (p.Pro804Arg) c.2387C>G (p.Pro796Arg) c.723C>G c.2358C>G (n.2358C>G) c.*2211C>G (n.*2211C>G) n.1353C>G c.2342C>G (p.Pro781Arg) c.2279C>G (p.Pro760Arg) c.2255C>G (p.Pro752Arg) c.1811C>G (p.Pro604Arg) c.2531C>G (p.Pro844Arg) c.2462C>G (p.Pro821Arg) c.2399C>G (p.Pro800Arg) c.2000C>G (p.Pro667Arg) n.2625C>G | |
11 | g.64789589G>T | CA381148866 | MAP4K2 | c.2411C>A (p.Pro804Gln) c.2387C>A (p.Pro796Gln) c.723C>A c.2358C>A (n.2358C>A) c.*2211C>A (n.*2211C>A) n.1353C>A c.2342C>A (p.Pro781Gln) c.2279C>A (p.Pro760Gln) c.2255C>A (p.Pro752Gln) c.1811C>A (p.Pro604Gln) c.2531C>A (p.Pro844Gln) c.2462C>A (p.Pro821Gln) c.2399C>A (p.Pro800Gln) c.2000C>A (p.Pro667Gln) n.2625C>A | |
11 | g.64789590G>A | CA381148868 | MAP4K2 | c.2410C>T (p.Pro804Ser) c.2386C>T (p.Pro796Ser) c.722C>T c.2357C>T (n.2357C>T) c.*2210C>T (n.*2210C>T) n.1352C>T c.2341C>T (p.Pro781Ser) c.2278C>T (p.Pro760Ser) c.2254C>T (p.Pro752Ser) c.1810C>T (p.Pro604Ser) c.2530C>T (p.Pro844Ser) c.2461C>T (p.Pro821Ser) c.2398C>T (p.Pro800Ser) c.1999C>T (p.Pro667Ser) n.2624C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.64789590G>C | CA223902144 | MAP4K2 | c.2410C>G (p.Pro804Ala) c.2386C>G (p.Pro796Ala) c.722C>G c.2357C>G (n.2357C>G) c.*2210C>G (n.*2210C>G) n.1352C>G c.2341C>G (p.Pro781Ala) c.2278C>G (p.Pro760Ala) c.2254C>G (p.Pro752Ala) c.1810C>G (p.Pro604Ala) c.2530C>G (p.Pro844Ala) c.2461C>G (p.Pro821Ala) c.2398C>G (p.Pro800Ala) c.1999C>G (p.Pro667Ala) n.2624C>G | dbSNP |
11 | g.64789590G= | CA1978888810 | MAP4K2 | c.2410C= (p.Pro804=) c.2386C= (p.Pro796=) c.722C= c.2357C= (n.2357C=) c.*2210C= (n.*2210C=) n.1352C= c.2341C= (p.Pro781=) c.2278C= (p.Pro760=) c.2254C= (p.Pro752=) c.1810C= (p.Pro604=) c.2530C= (p.Pro844=) c.2461C= (p.Pro821=) c.2398C= (p.Pro800=) c.1999C= (p.Pro667=) n.2624C= | |
11 | g.64789590G>T | CA381148870 | MAP4K2 | c.2410C>A (p.Pro804Thr) c.2386C>A (p.Pro796Thr) c.722C>A c.2357C>A (n.2357C>A) c.*2210C>A (n.*2210C>A) n.1352C>A c.2341C>A (p.Pro781Thr) c.2278C>A (p.Pro760Thr) c.2254C>A (p.Pro752Thr) c.1810C>A (p.Pro604Thr) c.2530C>A (p.Pro844Thr) c.2461C>A (p.Pro821Thr) c.2398C>A (p.Pro800Thr) c.1999C>A (p.Pro667Thr) n.2624C>A | |
11 | g.64789591G>A | CA474976868 | MAP4K2 | c.2409C>T (p.Asn803=) c.2385C>T (p.Asn795=) c.721C>T c.2356C>T (n.2356C>T) c.*2209C>T (n.*2209C>T) n.1351C>T c.2340C>T (p.Asn780=) c.2277C>T (p.Asn759=) c.2253C>T (p.Asn751=) c.1809C>T (p.Asn603=) c.2529C>T (p.Asn843=) c.2460C>T (p.Asn820=) c.2397C>T (p.Asn799=) c.1998C>T (p.Asn666=) n.2623C>T | gnomAD v4 |
11 | g.64789591G>C | CA381148871 | MAP4K2 | c.2409C>G (p.Asn803Lys) c.2385C>G (p.Asn795Lys) c.721C>G c.2356C>G (n.2356C>G) c.*2209C>G (n.*2209C>G) n.1351C>G c.2340C>G (p.Asn780Lys) c.2277C>G (p.Asn759Lys) c.2253C>G (p.Asn751Lys) c.1809C>G (p.Asn603Lys) c.2529C>G (p.Asn843Lys) c.2460C>G (p.Asn820Lys) c.2397C>G (p.Asn799Lys) c.1998C>G (p.Asn666Lys) n.2623C>G | gnomAD v4 |
11 | g.64789591G>T | CA381148876 | MAP4K2 | c.2409C>A (p.Asn803Lys) c.2385C>A (p.Asn795Lys) c.721C>A c.2356C>A (n.2356C>A) c.*2209C>A (n.*2209C>A) n.1351C>A c.2340C>A (p.Asn780Lys) c.2277C>A (p.Asn759Lys) c.2253C>A (p.Asn751Lys) c.1809C>A (p.Asn603Lys) c.2529C>A (p.Asn843Lys) c.2460C>A (p.Asn820Lys) c.2397C>A (p.Asn799Lys) c.1998C>A (p.Asn666Lys) n.2623C>A | |
11 | g.64789592T>A | CA381148878 | MAP4K2 | c.2408A>T (p.Asn803Ile) c.2384A>T (p.Asn795Ile) c.720A>T c.2355A>T (n.2355A>T) c.*2208A>T (n.*2208A>T) n.1350A>T c.2339A>T (p.Asn780Ile) c.2276A>T (p.Asn759Ile) c.2252A>T (p.Asn751Ile) c.1808A>T (p.Asn603Ile) c.2528A>T (p.Asn843Ile) c.2459A>T (p.Asn820Ile) c.2396A>T (p.Asn799Ile) c.1997A>T (p.Asn666Ile) n.2622A>T | |
11 | g.64789592T>C | CA381148886 | MAP4K2 | c.2408A>G (p.Asn803Ser) c.2384A>G (p.Asn795Ser) c.720A>G c.2355A>G (n.2355A>G) c.*2208A>G (n.*2208A>G) n.1350A>G c.2339A>G (p.Asn780Ser) c.2276A>G (p.Asn759Ser) c.2252A>G (p.Asn751Ser) c.1808A>G (p.Asn603Ser) c.2528A>G (p.Asn843Ser) c.2459A>G (p.Asn820Ser) c.2396A>G (p.Asn799Ser) c.1997A>G (p.Asn666Ser) n.2622A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.64789592T>G | CA381148885 | MAP4K2 | c.2408A>C (p.Asn803Thr) c.2384A>C (p.Asn795Thr) c.720A>C c.2355A>C (n.2355A>C) c.*2208A>C (n.*2208A>C) n.1350A>C c.2339A>C (p.Asn780Thr) c.2276A>C (p.Asn759Thr) c.2252A>C (p.Asn751Thr) c.1808A>C (p.Asn603Thr) c.2528A>C (p.Asn843Thr) c.2459A>C (p.Asn820Thr) c.2396A>C (p.Asn799Thr) c.1997A>C (p.Asn666Thr) n.2622A>C | |
11 | g.64789592T= | CA1978888814 | MAP4K2 | c.2408A= (p.Asn803=) c.2384A= (p.Asn795=) c.720A= c.2355A= (n.2355A=) c.*2208A= (n.*2208A=) n.1350A= c.2339A= (p.Asn780=) c.2276A= (p.Asn759=) c.2252A= (p.Asn751=) c.1808A= (p.Asn603=) c.2528A= (p.Asn843=) c.2459A= (p.Asn820=) c.2396A= (p.Asn799=) c.1997A= (p.Asn666=) n.2622A= | |
11 | g.64789593T>A | CA381148888 | MAP4K2 | c.2407A>T (p.Asn803Tyr) c.2383A>T (p.Asn795Tyr) c.719A>T c.2354A>T (n.2354A>T) c.*2207A>T (n.*2207A>T) n.1349A>T c.2338A>T (p.Asn780Tyr) c.2275A>T (p.Asn759Tyr) c.2251A>T (p.Asn751Tyr) c.1807A>T (p.Asn603Tyr) c.2527A>T (p.Asn843Tyr) c.2458A>T (p.Asn820Tyr) c.2395A>T (p.Asn799Tyr) c.1996A>T (p.Asn666Tyr) n.2621A>T | |
11 | g.64789593T>C | CA381148889 | MAP4K2 | c.2407A>G (p.Asn803Asp) c.2383A>G (p.Asn795Asp) c.719A>G c.2354A>G (n.2354A>G) c.*2207A>G (n.*2207A>G) n.1349A>G c.2338A>G (p.Asn780Asp) c.2275A>G (p.Asn759Asp) c.2251A>G (p.Asn751Asp) c.1807A>G (p.Asn603Asp) c.2527A>G (p.Asn843Asp) c.2458A>G (p.Asn820Asp) c.2395A>G (p.Asn799Asp) c.1996A>G (p.Asn666Asp) n.2621A>G | |
11 | g.64789593T>G | CA381148891 | MAP4K2 | c.2407A>C (p.Asn803His) c.2383A>C (p.Asn795His) c.719A>C c.2354A>C (n.2354A>C) c.*2207A>C (n.*2207A>C) n.1349A>C c.2338A>C (p.Asn780His) c.2275A>C (p.Asn759His) c.2251A>C (p.Asn751His) c.1807A>C (p.Asn603His) c.2527A>C (p.Asn843His) c.2458A>C (p.Asn820His) c.2395A>C (p.Asn799His) c.1996A>C (p.Asn666His) n.2621A>C | |
11 | g.64789594G>A | CA6081130 | MAP4K2 | c.2406C>T (p.Asp802=) c.2382C>T (p.Asp794=) c.718C>T c.2353C>T (n.2353C>T) c.*2206C>T (n.*2206C>T) n.1348C>T c.2337C>T (p.Asp779=) c.2274C>T (p.Asp758=) c.2250C>T (p.Asp750=) c.1806C>T (p.Asp602=) c.2526C>T (p.Asp842=) c.2457C>T (p.Asp819=) c.2394C>T (p.Asp798=) c.1995C>T (p.Asp665=) n.2620C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64789594G>C | CA381148893 | MAP4K2 | c.2406C>G (p.Asp802Glu) c.2382C>G (p.Asp794Glu) c.718C>G c.2353C>G (n.2353C>G) c.*2206C>G (n.*2206C>G) n.1348C>G c.2337C>G (p.Asp779Glu) c.2274C>G (p.Asp758Glu) c.2250C>G (p.Asp750Glu) c.1806C>G (p.Asp602Glu) c.2526C>G (p.Asp842Glu) c.2457C>G (p.Asp819Glu) c.2394C>G (p.Asp798Glu) c.1995C>G (p.Asp665Glu) n.2620C>G | |
11 | g.64789594G= | CA1978888818 | MAP4K2 | c.2406C= (p.Asp802=) c.2382C= (p.Asp794=) c.718C= c.2353C= (n.2353C=) c.*2206C= (n.*2206C=) n.1348C= c.2337C= (p.Asp779=) c.2274C= (p.Asp758=) c.2250C= (p.Asp750=) c.1806C= (p.Asp602=) c.2526C= (p.Asp842=) c.2457C= (p.Asp819=) c.2394C= (p.Asp798=) c.1995C= (p.Asp665=) n.2620C= | |
11 | g.64789594G>T | CA381148896 | MAP4K2 | c.2406C>A (p.Asp802Glu) c.2382C>A (p.Asp794Glu) c.718C>A c.2353C>A (n.2353C>A) c.*2206C>A (n.*2206C>A) n.1348C>A c.2337C>A (p.Asp779Glu) c.2274C>A (p.Asp758Glu) c.2250C>A (p.Asp750Glu) c.1806C>A (p.Asp602Glu) c.2526C>A (p.Asp842Glu) c.2457C>A (p.Asp819Glu) c.2394C>A (p.Asp798Glu) c.1995C>A (p.Asp665Glu) n.2620C>A | |
11 | g.64789595T>A | CA381148898 | MAP4K2 | c.2405A>T (p.Asp802Val) c.2381A>T (p.Asp794Val) c.717A>T c.2352A>T (n.2352A>T) c.*2205A>T (n.*2205A>T) n.1347A>T c.2336A>T (p.Asp779Val) c.2273A>T (p.Asp758Val) c.2249A>T (p.Asp750Val) c.1805A>T (p.Asp602Val) c.2525A>T (p.Asp842Val) c.2456A>T (p.Asp819Val) c.2393A>T (p.Asp798Val) c.1994A>T (p.Asp665Val) n.2619A>T | |
11 | g.64789595T>C | CA381148899 | MAP4K2 | c.2405A>G (p.Asp802Gly) c.2381A>G (p.Asp794Gly) c.717A>G c.2352A>G (n.2352A>G) c.*2205A>G (n.*2205A>G) n.1347A>G c.2336A>G (p.Asp779Gly) c.2273A>G (p.Asp758Gly) c.2249A>G (p.Asp750Gly) c.1805A>G (p.Asp602Gly) c.2525A>G (p.Asp842Gly) c.2456A>G (p.Asp819Gly) c.2393A>G (p.Asp798Gly) c.1994A>G (p.Asp665Gly) n.2619A>G | |
11 | g.64789595T>G | CA381148902 | MAP4K2 | c.2405A>C (p.Asp802Ala) c.2381A>C (p.Asp794Ala) c.717A>C c.2352A>C (n.2352A>C) c.*2205A>C (n.*2205A>C) n.1347A>C c.2336A>C (p.Asp779Ala) c.2273A>C (p.Asp758Ala) c.2249A>C (p.Asp750Ala) c.1805A>C (p.Asp602Ala) c.2525A>C (p.Asp842Ala) c.2456A>C (p.Asp819Ala) c.2393A>C (p.Asp798Ala) c.1994A>C (p.Asp665Ala) n.2619A>C | |
11 | g.64789596C>A | CA381148912 | MAP4K2 | c.2404G>T (p.Asp802Tyr) c.2380G>T (p.Asp794Tyr) c.716G>T c.2351G>T (n.2351G>T) c.*2204G>T (n.*2204G>T) n.1346G>T c.2335G>T (p.Asp779Tyr) c.2272G>T (p.Asp758Tyr) c.2248G>T (p.Asp750Tyr) c.1804G>T (p.Asp602Tyr) c.2524G>T (p.Asp842Tyr) c.2455G>T (p.Asp819Tyr) c.2392G>T (p.Asp798Tyr) c.1993G>T (p.Asp665Tyr) n.2618G>T |