Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.50192395T>A | CA413187493 | AKAP4 | c.2318A>T (p.Gln773Leu) c.2291A>T (p.Gln764Leu) n.2430A>T | |
X | g.50192395T>C | CA413187494 | AKAP4 | c.2318A>G (p.Gln773Arg) c.2291A>G (p.Gln764Arg) n.2430A>G | |
X | g.50192395T>G | CA413187495 | AKAP4 | c.2318A>C (p.Gln773Pro) c.2291A>C (p.Gln764Pro) n.2430A>C | |
X | g.50192396G>A | CA413187496 | AKAP4 | c.2317C>T (p.Gln773Ter) c.2290C>T (p.Gln764Ter) n.2429C>T | |
X | g.50192396G>C | CA329787849 | AKAP4 | c.2317C>G (p.Gln773Glu) c.2290C>G (p.Gln764Glu) n.2429C>G | dbSNP |
X | g.50192396G= | CA2428802728 | AKAP4 | c.2317C= (p.Gln773=) c.2290C= (p.Gln764=) n.2429C= | |
X | g.50192396G>T | CA413187497 | AKAP4 | c.2317C>A (p.Gln773Lys) c.2290C>A (p.Gln764Lys) n.2429C>A | COSMIC |
X | g.50192397C>A | CA413187498 | AKAP4 | c.2316G>T (p.Lys772Asn) c.2289G>T (p.Lys763Asn) n.2428G>T | |
X | g.50192397C>G | CA413187499 | AKAP4 | c.2316G>C (p.Lys772Asn) c.2289G>C (p.Lys763Asn) n.2428G>C | |
X | g.50192397C>T | CA516679425 | AKAP4 | c.2316G>A (p.Lys772=) c.2289G>A (p.Lys763=) n.2428G>A | |
X | g.50192398T>A | CA413187500 | AKAP4 | c.2315A>T (p.Lys772Met) c.2288A>T (p.Lys763Met) n.2427A>T | |
X | g.50192398T>C | CA413187501 | AKAP4 | c.2315A>G (p.Lys772Arg) c.2288A>G (p.Lys763Arg) n.2427A>G | |
X | g.50192398T>G | CA413187502 | AKAP4 | c.2315A>C (p.Lys772Thr) c.2288A>C (p.Lys763Thr) n.2427A>C | gnomAD v4 |
X | g.50192399T>A | CA413187505 | AKAP4 | c.2314A>T (p.Lys772Ter) c.2287A>T (p.Lys763Ter) n.2426A>T | |
X | g.50192399T>C | CA413187504 | AKAP4 | c.2314A>G (p.Lys772Glu) c.2287A>G (p.Lys763Glu) n.2426A>G | |
X | g.50192399T>G | CA413187503 | AKAP4 | c.2314A>C (p.Lys772Gln) c.2287A>C (p.Lys763Gln) n.2426A>C | |
X | g.50192400C>A | CA413187506 | AKAP4 | c.2313G>T (p.Gln771His) c.2286G>T (p.Gln762His) n.2425G>T | |
X | g.50192400C>G | CA413187507 | AKAP4 | c.2313G>C (p.Gln771His) c.2286G>C (p.Gln762His) n.2425G>C | |
X | g.50192400C>T | CA516679444 | AKAP4 | c.2313G>A (p.Gln771=) c.2286G>A (p.Gln762=) n.2425G>A | |
X | g.50192401T>A | CA413187508 | AKAP4 | c.2312A>T (p.Gln771Leu) c.2285A>T (p.Gln762Leu) n.2424A>T | |
X | g.50192401T>C | CA413187509 | AKAP4 | c.2312A>G (p.Gln771Arg) c.2285A>G (p.Gln762Arg) n.2424A>G | dbSNP |
X | g.50192401T>G | CA10414123 | AKAP4 | c.2312A>C (p.Gln771Pro) c.2285A>C (p.Gln762Pro) n.2424A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50192401T= | CA2428802729 | AKAP4 | c.2312A= (p.Gln771=) c.2285A= (p.Gln762=) n.2424A= | |
X | g.50192402G>A | CA413187510 | AKAP4 | c.2311C>T (p.Gln771Ter) c.2284C>T (p.Gln762Ter) n.2423C>T | |
X | g.50192402G>C | CA413187511 | AKAP4 | c.2311C>G (p.Gln771Glu) c.2284C>G (p.Gln762Glu) n.2423C>G | |
X | g.50192402G>T | CA413187512 | AKAP4 | c.2311C>A (p.Gln771Lys) c.2284C>A (p.Gln762Lys) n.2423C>A | |
X | g.50192403C>A | CA413187513 | AKAP4 | c.2310G>T (p.Leu770Phe) c.2283G>T (p.Leu761Phe) n.2422G>T | |
X | g.50192403C>G | CA413187514 | AKAP4 | c.2310G>C (p.Leu770Phe) c.2283G>C (p.Leu761Phe) n.2422G>C | |
X | g.50192403C>T | CA516679450 | AKAP4 | c.2310G>A (p.Leu770=) c.2283G>A (p.Leu761=) n.2422G>A | |
X | g.50192404A>C | CA413187515 | AKAP4 | c.2309T>G (p.Leu770Trp) c.2282T>G (p.Leu761Trp) n.2421T>G | |
X | g.50192404A>G | CA413187516 | AKAP4 | c.2309T>C (p.Leu770Ser) c.2282T>C (p.Leu761Ser) n.2421T>C | |
X | g.50192404A>T | CA413187517 | AKAP4 | c.2309T>A (p.Leu770Ter) c.2282T>A (p.Leu761Ter) n.2421T>A | |
X | g.50192405A>C | CA413187519 | AKAP4 | c.2308T>G (p.Leu770Val) c.2281T>G (p.Leu761Val) n.2420T>G | |
X | g.50192405A>G | CA516679456 | AKAP4 | c.2308T>C (p.Leu770=) c.2281T>C (p.Leu761=) n.2420T>C | |
X | g.50192405A>T | CA413187518 | AKAP4 | c.2308T>A (p.Leu770Met) c.2281T>A (p.Leu761Met) n.2420T>A | |
X | g.50192406G>A | CA516679460 | AKAP4 | c.2307C>T (p.Ser769=) c.2280C>T (p.Ser760=) n.2419C>T | dbSNP |
X | g.50192406G>C | CA413187520 | AKAP4 | c.2307C>G (p.Ser769Arg) c.2280C>G (p.Ser760Arg) n.2419C>G | |
X | g.50192406G= | CA2428802730 | AKAP4 | c.2307C= (p.Ser769=) c.2280C= (p.Ser760=) n.2419C= | |
X | g.50192406G>T | CA413187521 | AKAP4 | c.2307C>A (p.Ser769Arg) c.2280C>A (p.Ser760Arg) n.2419C>A | dbSNP |
X | g.50192407C>A | CA413187522 | AKAP4 | c.2306G>T (p.Ser769Ile) c.2279G>T (p.Ser760Ile) n.2418G>T | |
X | g.50192407C>G | CA413187523 | AKAP4 | c.2306G>C (p.Ser769Thr) c.2279G>C (p.Ser760Thr) n.2418G>C | |
X | g.50192407C>T | CA413187524 | AKAP4 | c.2306G>A (p.Ser769Asn) c.2279G>A (p.Ser760Asn) n.2418G>A | |
X | g.50192408T>A | CA413187525 | AKAP4 | c.2305A>T (p.Ser769Cys) c.2278A>T (p.Ser760Cys) n.2417A>T | |
X | g.50192408T>C | CA413187526 | AKAP4 | c.2305A>G (p.Ser769Gly) c.2278A>G (p.Ser760Gly) n.2417A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.50192408T>G | CA413187527 | AKAP4 | c.2305A>C (p.Ser769Arg) c.2278A>C (p.Ser760Arg) n.2417A>C | |
X | g.50192408T= | CA2428802731 | AKAP4 | c.2305A= (p.Ser769=) c.2278A= (p.Ser760=) n.2417A= | |
X | g.50192409A= | CA2428802732 | AKAP4 | c.2304T= (p.Asn768=) c.2277T= (p.Asn759=) n.2416T= | |
X | g.50192409A>C | CA413187528 | AKAP4 | c.2304T>G (p.Asn768Lys) c.2277T>G (p.Asn759Lys) n.2416T>G | |
X | g.50192409A>G | CA10414124 | AKAP4 | c.2304T>C (p.Asn768=) c.2277T>C (p.Asn759=) n.2416T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50192409A>T | CA413187529 | AKAP4 | c.2304T>A (p.Asn768Lys) c.2277T>A (p.Asn759Lys) n.2416T>A | |
X | g.50192410T>A | CA413187530 | AKAP4 | c.2303A>T (p.Asn768Ile) c.2276A>T (p.Asn759Ile) n.2415A>T | |
X | g.50192410T>C | CA413187531 | AKAP4 | c.2303A>G (p.Asn768Ser) c.2276A>G (p.Asn759Ser) n.2415A>G | |
X | g.50192410T>G | CA413187532 | AKAP4 | c.2303A>C (p.Asn768Thr) c.2276A>C (p.Asn759Thr) n.2415A>C | |
X | g.50192411T>A | CA413187535 | AKAP4 | c.2302A>T (p.Asn768Tyr) c.2275A>T (p.Asn759Tyr) n.2414A>T | |
X | g.50192411T>C | CA413187534 | AKAP4 | c.2302A>G (p.Asn768Asp) c.2275A>G (p.Asn759Asp) n.2414A>G | dbSNP |
X | g.50192411T>G | CA413187533 | AKAP4 | c.2302A>C (p.Asn768His) c.2275A>C (p.Asn759His) n.2414A>C | |
X | g.50192411T= | CA2428802733 | AKAP4 | c.2302A= (p.Asn768=) c.2275A= (p.Asn759=) n.2414A= | |
X | g.50192412T>A | CA516679483 | AKAP4 | c.2301A>T (p.Thr767=) c.2274A>T (p.Thr758=) n.2413A>T | |
X | g.50192412T>C | CA516679478 | AKAP4 | c.2301A>G (p.Thr767=) c.2274A>G (p.Thr758=) n.2413A>G | |
X | g.50192412T>G | CA516679480 | AKAP4 | c.2301A>C (p.Thr767=) c.2274A>C (p.Thr758=) n.2413A>C | |
X | g.50192413G>A | CA413187536 | AKAP4 | c.2300C>T (p.Thr767Ile) c.2273C>T (p.Thr758Ile) n.2412C>T | gnomAD v4 |
X | g.50192413G>C | CA413187537 | AKAP4 | c.2300C>G (p.Thr767Arg) c.2273C>G (p.Thr758Arg) n.2412C>G | |
X | g.50192413G>T | CA413187538 | AKAP4 | c.2300C>A (p.Thr767Lys) c.2273C>A (p.Thr758Lys) n.2412C>A | |
X | g.50192414T>A | CA413187539 | AKAP4 | c.2299A>T (p.Thr767Ser) c.2272A>T (p.Thr758Ser) n.2411A>T | dbSNP gnomAD v4 |
X | g.50192414T>C | CA413187540 | AKAP4 | c.2299A>G (p.Thr767Ala) c.2272A>G (p.Thr758Ala) n.2411A>G | |
X | g.50192414T>G | CA413187541 | AKAP4 | c.2299A>C (p.Thr767Pro) c.2272A>C (p.Thr758Pro) n.2411A>C | |
X | g.50192414T= | CA2428802734 | AKAP4 | c.2299A= (p.Thr767=) c.2272A= (p.Thr758=) n.2411A= | |
X | g.50192415A>C | CA516679501 | AKAP4 | c.2298T>G (p.Ser766=) c.2271T>G (p.Ser757=) n.2410T>G | |
X | g.50192415A>G | CA516679502 | AKAP4 | c.2298T>C (p.Ser766=) c.2271T>C (p.Ser757=) n.2410T>C | |
X | g.50192415A>T | CA516679505 | AKAP4 | c.2298T>A (p.Ser766=) c.2271T>A (p.Ser757=) n.2410T>A | |
X | g.50192416G>A | CA413187542 | AKAP4 | c.2297C>T (p.Ser766Phe) c.2270C>T (p.Ser757Phe) n.2409C>T | gnomAD v4 |
X | g.50192416G>C | CA413187543 | AKAP4 | c.2297C>G (p.Ser766Cys) c.2270C>G (p.Ser757Cys) n.2409C>G | |
X | g.50192416G>T | CA413187544 | AKAP4 | c.2297C>A (p.Ser766Tyr) c.2270C>A (p.Ser757Tyr) n.2409C>A | |
X | g.50192417A>C | CA413187545 | AKAP4 | c.2296T>G (p.Ser766Ala) c.2269T>G (p.Ser757Ala) n.2408T>G | |
X | g.50192417A>G | CA413187546 | AKAP4 | c.2296T>C (p.Ser766Pro) c.2269T>C (p.Ser757Pro) n.2408T>C | |
X | g.50192417A>T | CA413187547 | AKAP4 | c.2296T>A (p.Ser766Thr) c.2269T>A (p.Ser757Thr) n.2408T>A | |
X | g.50192418G>A | CA516679508 | AKAP4 | c.2295C>T (p.Cys765=) c.2268C>T (p.Cys756=) n.2407C>T | gnomAD v4 |
X | g.50192418G>C | CA413187548 | AKAP4 | c.2295C>G (p.Cys765Trp) c.2268C>G (p.Cys756Trp) n.2407C>G | |
X | g.50192418G>T | CA413187549 | AKAP4 | c.2295C>A (p.Cys765Ter) c.2268C>A (p.Cys756Ter) n.2407C>A | |
X | g.50192419C>A | CA413187551 | AKAP4 | c.2294G>T (p.Cys765Phe) c.2267G>T (p.Cys756Phe) n.2406G>T | |
X | g.50192419C>G | CA413187552 | AKAP4 | c.2294G>C (p.Cys765Ser) c.2267G>C (p.Cys756Ser) n.2406G>C | |
X | g.50192419C>T | CA413187550 | AKAP4 | c.2294G>A (p.Cys765Tyr) c.2267G>A (p.Cys756Tyr) n.2406G>A | |
X | g.50192420A>C | CA413187553 | AKAP4 | c.2293T>G (p.Cys765Gly) c.2266T>G (p.Cys756Gly) n.2405T>G | |
X | g.50192420A>G | CA413187555 | AKAP4 | c.2293T>C (p.Cys765Arg) c.2266T>C (p.Cys756Arg) n.2405T>C | |
X | g.50192420A>T | CA413187554 | AKAP4 | c.2293T>A (p.Cys765Ser) c.2266T>A (p.Cys756Ser) n.2405T>A | |
X | g.50192421C>A | CA413187556 | AKAP4 | c.2292G>T (p.Gln764His) c.2265G>T (p.Gln755His) n.2404G>T | |
X | g.50192421C= | CA2428802735 | AKAP4 | c.2292G= (p.Gln764=) c.2265G= (p.Gln755=) n.2404G= | |
X | g.50192421C>G | CA329787850 | AKAP4 | c.2292G>C (p.Gln764His) c.2265G>C (p.Gln755His) n.2404G>C | dbSNP |
X | g.50192421C>T | CA516679529 | AKAP4 | c.2292G>A (p.Gln764=) c.2265G>A (p.Gln755=) n.2404G>A | gnomAD v4 |
X | g.50192422T>A | CA413187557 | AKAP4 | c.2291A>T (p.Gln764Leu) c.2264A>T (p.Gln755Leu) n.2403A>T | |
X | g.50192422T>C | CA413187558 | AKAP4 | c.2291A>G (p.Gln764Arg) c.2264A>G (p.Gln755Arg) n.2403A>G | COSMIC |
X | g.50192422T>G | CA413187559 | AKAP4 | c.2291A>C (p.Gln764Pro) c.2264A>C (p.Gln755Pro) n.2403A>C | |
X | g.50192423G>A | CA413187560 | AKAP4 | c.2290C>T (p.Gln764Ter) c.2263C>T (p.Gln755Ter) n.2402C>T | |
X | g.50192423G>C | CA413187561 | AKAP4 | c.2290C>G (p.Gln764Glu) c.2263C>G (p.Gln755Glu) n.2402C>G | |
X | g.50192423G>T | CA413187562 | AKAP4 | c.2290C>A (p.Gln764Lys) c.2263C>A (p.Gln755Lys) n.2402C>A | |
X | g.50192424A>C | CA413187563 | AKAP4 | c.2289T>G (p.Asn763Lys) c.2262T>G (p.Asn754Lys) n.2401T>G | |
X | g.50192424A>G | CA516679550 | AKAP4 | c.2289T>C (p.Asn763=) c.2262T>C (p.Asn754=) n.2401T>C | |
X | g.50192424A>T | CA413187564 | AKAP4 | c.2289T>A (p.Asn763Lys) c.2262T>A (p.Asn754Lys) n.2401T>A | |
X | g.50192425T>A | CA413187565 | AKAP4 | c.2288A>T (p.Asn763Ile) c.2261A>T (p.Asn754Ile) n.2400A>T | gnomAD v4 |
X | g.50192425T>C | CA413187566 | AKAP4 | c.2288A>G (p.Asn763Ser) c.2261A>G (p.Asn754Ser) n.2400A>G | |
X | g.50192425T>G | CA413187567 | AKAP4 | c.2288A>C (p.Asn763Thr) c.2261A>C (p.Asn754Thr) n.2400A>C | |
X | g.50192426T>A | CA413187568 | AKAP4 | c.2287A>T (p.Asn763Tyr) c.2260A>T (p.Asn754Tyr) n.2399A>T | |
X | g.50192426T>C | CA413187569 | AKAP4 | c.2287A>G (p.Asn763Asp) c.2260A>G (p.Asn754Asp) n.2399A>G | |
X | g.50192426T>G | CA413187570 | AKAP4 | c.2287A>C (p.Asn763His) c.2260A>C (p.Asn754His) n.2399A>C | |
X | g.50192427A>C | CA413187572 | AKAP4 | c.2286T>G (p.Asn762Lys) c.2259T>G (p.Asn753Lys) n.2398T>G | |
X | g.50192427A>G | CA516679571 | AKAP4 | c.2286T>C (p.Asn762=) c.2259T>C (p.Asn753=) n.2398T>C | gnomAD v4 |
X | g.50192427A>T | CA413187571 | AKAP4 | c.2286T>A (p.Asn762Lys) c.2259T>A (p.Asn753Lys) n.2398T>A | |
X | g.50192428T>A | CA413187573 | AKAP4 | c.2285A>T (p.Asn762Ile) c.2258A>T (p.Asn753Ile) n.2397A>T | |
X | g.50192428T>C | CA413187574 | AKAP4 | c.2285A>G (p.Asn762Ser) c.2258A>G (p.Asn753Ser) n.2397A>G | |
X | g.50192428T>G | CA413187575 | AKAP4 | c.2285A>C (p.Asn762Thr) c.2258A>C (p.Asn753Thr) n.2397A>C | |
X | g.50192429T>A | CA413187576 | AKAP4 | c.2284A>T (p.Asn762Tyr) c.2257A>T (p.Asn753Tyr) n.2396A>T | |
X | g.50192429T>C | CA413187577 | AKAP4 | c.2284A>G (p.Asn762Asp) c.2257A>G (p.Asn753Asp) n.2396A>G | |
X | g.50192429T>G | CA413187578 | AKAP4 | c.2284A>C (p.Asn762His) c.2257A>C (p.Asn753His) n.2396A>C | |
X | g.50192430G>A | CA516679581 | AKAP4 | c.2283C>T (p.Val761=) c.2256C>T (p.Val752=) n.2395C>T | |
X | g.50192430G>C | CA516679585 | AKAP4 | c.2283C>G (p.Val761=) c.2256C>G (p.Val752=) n.2395C>G | |
X | g.50192430G>T | CA516679582 | AKAP4 | c.2283C>A (p.Val761=) c.2256C>A (p.Val752=) n.2395C>A | |
X | g.50192431A>C | CA413187579 | AKAP4 | c.2282T>G (p.Val761Gly) c.2255T>G (p.Val752Gly) n.2394T>G | |
X | g.50192431A>G | CA413187580 | AKAP4 | c.2282T>C (p.Val761Ala) c.2255T>C (p.Val752Ala) n.2394T>C | |
X | g.50192431A>T | CA413187581 | AKAP4 | c.2282T>A (p.Val761Asp) c.2255T>A (p.Val752Asp) n.2394T>A | gnomAD v4 |
X | g.50192432C>A | CA413187582 | AKAP4 | c.2281G>T (p.Val761Phe) c.2254G>T (p.Val752Phe) n.2393G>T | |
X | g.50192432C= | CA2428802736 | AKAP4 | c.2281G= (p.Val761=) c.2254G= (p.Val752=) n.2393G= | |
X | g.50192432C>G | CA413187583 | AKAP4 | c.2281G>C (p.Val761Leu) c.2254G>C (p.Val752Leu) n.2393G>C | |
X | g.50192432C>T | CA10414125 | AKAP4 | c.2281G>A (p.Val761Ile) c.2254G>A (p.Val752Ile) n.2393G>A | dbSNP ExAC gnomAD v4 |
X | g.50192433A= | CA2428802737 | AKAP4 | c.2280T= (p.Ile760=) c.2253T= (p.Ile751=) n.2392T= | |
X | g.50192433A>C | CA329787851 | AKAP4 | c.2280T>G (p.Ile760Met) c.2253T>G (p.Ile751Met) n.2392T>G | dbSNP gnomAD v4 |
X | g.50192433A>G | CA516679594 | AKAP4 | c.2280T>C (p.Ile760=) c.2253T>C (p.Ile751=) n.2392T>C | |
X | g.50192433A>T | CA516679595 | AKAP4 | c.2280T>A (p.Ile760=) c.2253T>A (p.Ile751=) n.2392T>A | dbSNP |
X | g.50192434A>C | CA413187586 | AKAP4 | c.2279T>G (p.Ile760Ser) c.2252T>G (p.Ile751Ser) n.2391T>G | |
X | g.50192434A>G | CA413187588 | AKAP4 | c.2279T>C (p.Ile760Thr) c.2252T>C (p.Ile751Thr) n.2391T>C | |
X | g.50192434A>T | CA413187587 | AKAP4 | c.2279T>A (p.Ile760Asn) c.2252T>A (p.Ile751Asn) n.2391T>A | |
X | g.50192435T>A | CA413187589 | AKAP4 | c.2278A>T (p.Ile760Phe) c.2251A>T (p.Ile751Phe) n.2390A>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.50192435T>C | CA413187590 | AKAP4 | c.2278A>G (p.Ile760Val) c.2251A>G (p.Ile751Val) n.2390A>G | |
X | g.50192435T>G | CA413187591 | AKAP4 | c.2278A>C (p.Ile760Leu) c.2251A>C (p.Ile751Leu) n.2390A>C | |
X | g.50192435T= | CA2428802738 | AKAP4 | c.2278A= (p.Ile760=) c.2251A= (p.Ile751=) n.2390A= | |
X | g.50192436T>A | CA516679607 | AKAP4 | c.2277A>T (p.Val759=) c.2250A>T (p.Val750=) n.2389A>T | |
X | g.50192436T>C | CA516679612 | AKAP4 | c.2277A>G (p.Val759=) c.2250A>G (p.Val750=) n.2389A>G | |
X | g.50192436T>G | CA516679610 | AKAP4 | c.2277A>C (p.Val759=) c.2250A>C (p.Val750=) n.2389A>C | gnomAD v4 |
X | g.50192437A>C | CA413187592 | AKAP4 | c.2276T>G (p.Val759Gly) c.2249T>G (p.Val750Gly) n.2388T>G | |
X | g.50192437A>G | CA413187593 | AKAP4 | c.2276T>C (p.Val759Ala) c.2249T>C (p.Val750Ala) n.2388T>C | |
X | g.50192437A>T | CA413187594 | AKAP4 | c.2276T>A (p.Val759Glu) c.2249T>A (p.Val750Glu) n.2388T>A | |
X | g.50192438C>A | CA413187595 | AKAP4 | c.2275G>T (p.Val759Leu) c.2248G>T (p.Val750Leu) n.2387G>T | |
X | g.50192438C>G | CA413187596 | AKAP4 | c.2275G>C (p.Val759Leu) c.2248G>C (p.Val750Leu) n.2387G>C | |
X | g.50192438C>T | CA413187597 | AKAP4 | c.2275G>A (p.Val759Ile) c.2248G>A (p.Val750Ile) n.2387G>A | COSMIC |
X | g.50192439T>A | CA413187598 | AKAP4 | c.2274A>T (p.Glu758Asp) c.2247A>T (p.Glu749Asp) n.2386A>T | |
X | g.50192439T>C | CA516679628 | AKAP4 | c.2274A>G (p.Glu758=) c.2247A>G (p.Glu749=) n.2386A>G | |
X | g.50192439T>G | CA413187599 | AKAP4 | c.2274A>C (p.Glu758Asp) c.2247A>C (p.Glu749Asp) n.2386A>C | |
X | g.50192440T>A | CA413187602 | AKAP4 | c.2273A>T (p.Glu758Val) c.2246A>T (p.Glu749Val) n.2385A>T | |
X | g.50192440T>C | CA413187601 | AKAP4 | c.2273A>G (p.Glu758Gly) c.2246A>G (p.Glu749Gly) n.2385A>G | |
X | g.50192440T>G | CA413187600 | AKAP4 | c.2273A>C (p.Glu758Ala) c.2246A>C (p.Glu749Ala) n.2385A>C | |
X | g.50192441C>A | CA413187603 | AKAP4 | c.2272G>T (p.Glu758Ter) c.2245G>T (p.Glu749Ter) n.2384G>T | |
X | g.50192441C= | CA2428802739 | AKAP4 | c.2272G= (p.Glu758=) c.2245G= (p.Glu749=) n.2384G= | |
X | g.50192441C>G | CA413187604 | AKAP4 | c.2272G>C (p.Glu758Gln) c.2245G>C (p.Glu749Gln) n.2384G>C | |
X | g.50192441C>T | CA413187605 | AKAP4 | c.2272G>A (p.Glu758Lys) c.2245G>A (p.Glu749Lys) n.2384G>A | dbSNP |
X | g.50192442A>C | CA413187606 | AKAP4 | c.2271T>G (p.His757Gln) c.2244T>G (p.His748Gln) n.2383T>G | |
X | g.50192442A>G | CA516679637 | AKAP4 | c.2271T>C (p.His757=) c.2244T>C (p.His748=) n.2383T>C | |
X | g.50192442A>T | CA413187607 | AKAP4 | c.2271T>A (p.His757Gln) c.2244T>A (p.His748Gln) n.2383T>A | |
X | g.50192443T>A | CA413187608 | AKAP4 | c.2270A>T (p.His757Leu) c.2243A>T (p.His748Leu) n.2382A>T | |
X | g.50192443T>C | CA10414126 | AKAP4 | c.2270A>G (p.His757Arg) c.2243A>G (p.His748Arg) n.2382A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50192443T>G | CA413187609 | AKAP4 | c.2270A>C (p.His757Pro) c.2243A>C (p.His748Pro) n.2382A>C | |
X | g.50192443T= | CA2428802740 | AKAP4 | c.2270A= (p.His757=) c.2243A= (p.His748=) n.2382A= | |
X | g.50192444G>A | CA413187610 | AKAP4 | c.2269C>T (p.His757Tyr) c.2242C>T (p.His748Tyr) n.2381C>T | |
X | g.50192444G>C | CA413187611 | AKAP4 | c.2269C>G (p.His757Asp) c.2242C>G (p.His748Asp) n.2381C>G | |
X | g.50192444G= | CA2428802741 | AKAP4 | c.2269C= (p.His757=) c.2242C= (p.His748=) n.2381C= | |
X | g.50192444G>T | CA10414127 | AKAP4 | c.2269C>A (p.His757Asn) c.2242C>A (p.His748Asn) n.2381C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50192445T>A | CA516679645 | AKAP4 | c.2268A>T (p.Gly756=) c.2241A>T (p.Gly747=) n.2380A>T | |
X | g.50192445T>C | CA516679646 | AKAP4 | c.2268A>G (p.Gly756=) c.2241A>G (p.Gly747=) n.2380A>G | |
X | g.50192445T>G | CA516679647 | AKAP4 | c.2268A>C (p.Gly756=) c.2241A>C (p.Gly747=) n.2380A>C | |
X | g.50192446C>A | CA413187614 | AKAP4 | c.2267G>T (p.Gly756Val) c.2240G>T (p.Gly747Val) n.2379G>T | |
X | g.50192446C>G | CA413187613 | AKAP4 | c.2267G>C (p.Gly756Ala) c.2240G>C (p.Gly747Ala) n.2379G>C | |
X | g.50192446C>T | CA413187612 | AKAP4 | c.2267G>A (p.Gly756Glu) c.2240G>A (p.Gly747Glu) n.2379G>A | |
X | g.50192447C>A | CA413187615 | AKAP4 | c.2266G>T (p.Gly756Ter) c.2239G>T (p.Gly747Ter) n.2378G>T | |
X | g.50192447C>G | CA413187617 | AKAP4 | c.2266G>C (p.Gly756Arg) c.2239G>C (p.Gly747Arg) n.2378G>C | |
X | g.50192447C>T | CA413187616 | AKAP4 | c.2266G>A (p.Gly756Arg) c.2239G>A (p.Gly747Arg) n.2378G>A | |
X | g.50192448A>C | CA516679650 | AKAP4 | c.2265T>G (p.Leu755=) c.2238T>G (p.Leu746=) n.2377T>G | |
X | g.50192448A>G | CA516679651 | AKAP4 | c.2265T>C (p.Leu755=) c.2238T>C (p.Leu746=) n.2377T>C | |
X | g.50192448A>T | CA516679654 | AKAP4 | c.2265T>A (p.Leu755=) c.2238T>A (p.Leu746=) n.2377T>A | |
X | g.50192449A= | CA2428802742 | AKAP4 | c.2264T= (p.Leu755=) c.2237T= (p.Leu746=) n.2376T= | |
X | g.50192449A>C | CA413187618 | AKAP4 | c.2264T>G (p.Leu755Arg) c.2237T>G (p.Leu746Arg) n.2376T>G | |
X | g.50192449A>G | CA413187619 | AKAP4 | c.2264T>C (p.Leu755Pro) c.2237T>C (p.Leu746Pro) n.2376T>C | dbSNP gnomAD v4 |
X | g.50192449A>T | CA413187620 | AKAP4 | c.2264T>A (p.Leu755His) c.2237T>A (p.Leu746His) n.2376T>A | |
X | g.50192450G>A | CA413187621 | AKAP4 | c.2263C>T (p.Leu755Phe) c.2236C>T (p.Leu746Phe) n.2375C>T | |
X | g.50192450G>C | CA413187622 | AKAP4 | c.2263C>G (p.Leu755Val) c.2236C>G (p.Leu746Val) n.2375C>G | |
X | g.50192450G>T | CA413187623 | AKAP4 | c.2263C>A (p.Leu755Ile) c.2236C>A (p.Leu746Ile) n.2375C>A | |
X | g.50192451A>C | CA516679662 | AKAP4 | c.2262T>G (p.Ser754=) c.2235T>G (p.Ser745=) n.2374T>G | |
X | g.50192451A>G | CA516679663 | AKAP4 | c.2262T>C (p.Ser754=) c.2235T>C (p.Ser745=) n.2374T>C | |
X | g.50192451A>T | CA516679666 | AKAP4 | c.2262T>A (p.Ser754=) c.2235T>A (p.Ser745=) n.2374T>A | |
X | g.50192452G>A | CA413187624 | AKAP4 | c.2261C>T (p.Ser754Phe) c.2234C>T (p.Ser745Phe) n.2373C>T | dbSNP gnomAD v4 |
X | g.50192452G>C | CA413187625 | AKAP4 | c.2261C>G (p.Ser754Cys) c.2234C>G (p.Ser745Cys) n.2373C>G | |
X | g.50192452G= | CA2428802743 | AKAP4 | c.2261C= (p.Ser754=) c.2234C= (p.Ser745=) n.2373C= | |
X | g.50192452G>T | CA413187626 | AKAP4 | c.2261C>A (p.Ser754Tyr) c.2234C>A (p.Ser745Tyr) n.2373C>A | |
X | g.50192453A>C | CA413187627 | AKAP4 | c.2260T>G (p.Ser754Ala) c.2233T>G (p.Ser745Ala) n.2372T>G | |
X | g.50192453A>G | CA413187628 | AKAP4 | c.2260T>C (p.Ser754Pro) c.2233T>C (p.Ser745Pro) n.2372T>C | |
X | g.50192453A>T | CA413187629 | AKAP4 | c.2260T>A (p.Ser754Thr) c.2233T>A (p.Ser745Thr) n.2372T>A | |
X | g.50192454G>A | CA516679678 | AKAP4 | c.2259C>T (p.Asp753=) c.2232C>T (p.Asp744=) n.2371C>T | |
X | g.50192454G>C | CA413187631 | AKAP4 | c.2259C>G (p.Asp753Glu) c.2232C>G (p.Asp744Glu) n.2371C>G | |
X | g.50192454G>T | CA413187630 | AKAP4 | c.2259C>A (p.Asp753Glu) c.2232C>A (p.Asp744Glu) n.2371C>A | |
X | g.50192455T>A | CA413187632 | AKAP4 | c.2258A>T (p.Asp753Val) c.2231A>T (p.Asp744Val) n.2370A>T | |
X | g.50192455T>C | CA413187633 | AKAP4 | c.2258A>G (p.Asp753Gly) c.2231A>G (p.Asp744Gly) n.2370A>G | |
X | g.50192455T>G | CA413187634 | AKAP4 | c.2258A>C (p.Asp753Ala) c.2231A>C (p.Asp744Ala) n.2370A>C | |
X | g.50192456C>A | CA413187635 | AKAP4 | c.2257G>T (p.Asp753Tyr) c.2230G>T (p.Asp744Tyr) n.2369G>T | |
X | g.50192456C>G | CA413187636 | AKAP4 | c.2257G>C (p.Asp753His) c.2230G>C (p.Asp744His) n.2369G>C | gnomAD v4 |
X | g.50192456C>T | CA413187637 | AKAP4 | c.2257G>A (p.Asp753Asn) c.2230G>A (p.Asp744Asn) n.2369G>A | |
X | g.50192457T>A | CA413187638 | AKAP4 | c.2256A>T (p.Gln752His) c.2229A>T (p.Gln743His) n.2368A>T | |
X | g.50192457T>C | CA516679696 | AKAP4 | c.2256A>G (p.Gln752=) c.2229A>G (p.Gln743=) n.2368A>G | |
X | g.50192457T>G | CA413187639 | AKAP4 | c.2256A>C (p.Gln752His) c.2229A>C (p.Gln743His) n.2368A>C | |
X | g.50192458T>A | CA413187640 | AKAP4 | c.2255A>T (p.Gln752Leu) c.2228A>T (p.Gln743Leu) n.2367A>T | |
X | g.50192458T>C | CA413187641 | AKAP4 | c.2255A>G (p.Gln752Arg) c.2228A>G (p.Gln743Arg) n.2367A>G | |
X | g.50192458T>G | CA413187642 | AKAP4 | c.2255A>C (p.Gln752Pro) c.2228A>C (p.Gln743Pro) n.2367A>C | |
X | g.50192459G>A | CA413187645 | AKAP4 | c.2254C>T (p.Gln752Ter) c.2227C>T (p.Gln743Ter) n.2366C>T | |
X | g.50192459G>C | CA413187644 | AKAP4 | c.2254C>G (p.Gln752Glu) c.2227C>G (p.Gln743Glu) n.2366C>G | |
X | g.50192459G>T | CA413187643 | AKAP4 | c.2254C>A (p.Gln752Lys) c.2227C>A (p.Gln743Lys) n.2366C>A | |
X | g.50192460A>C | CA413187646 | AKAP4 | c.2253T>G (p.Tyr751Ter) c.2226T>G (p.Tyr742Ter) n.2365T>G | |
X | g.50192460A>G | CA516679706 | AKAP4 | c.2253T>C (p.Tyr751=) c.2226T>C (p.Tyr742=) n.2365T>C | |
X | g.50192460A>T | CA413187647 | AKAP4 | c.2253T>A (p.Tyr751Ter) c.2226T>A (p.Tyr742Ter) n.2365T>A | |
X | g.50192461T>A | CA413187648 | AKAP4 | c.2252A>T (p.Tyr751Phe) c.2225A>T (p.Tyr742Phe) n.2364A>T | |
X | g.50192461T>C | CA413187649 | AKAP4 | c.2252A>G (p.Tyr751Cys) c.2225A>G (p.Tyr742Cys) n.2364A>G | |
X | g.50192461T>G | CA413187650 | AKAP4 | c.2252A>C (p.Tyr751Ser) c.2225A>C (p.Tyr742Ser) n.2364A>C | |
X | g.50192462A>C | CA413187653 | AKAP4 | c.2251T>G (p.Tyr751Asp) c.2224T>G (p.Tyr742Asp) n.2363T>G | |
X | g.50192462A>G | CA413187652 | AKAP4 | c.2251T>C (p.Tyr751His) c.2224T>C (p.Tyr742His) n.2363T>C | gnomAD v4 |
X | g.50192462A>T | CA413187651 | AKAP4 | c.2251T>A (p.Tyr751Asn) c.2224T>A (p.Tyr742Asn) n.2363T>A | |
X | g.50192463G>A | CA10414128 | AKAP4 | c.2250C>T (p.Asn750=) c.2223C>T (p.Asn741=) n.2362C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50192463G>C | CA413187654 | AKAP4 | c.2250C>G (p.Asn750Lys) c.2223C>G (p.Asn741Lys) n.2362C>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.50192463G= | CA2428802744 | AKAP4 | c.2250C= (p.Asn750=) c.2223C= (p.Asn741=) n.2362C= | |
X | g.50192463G>T | CA413187655 | AKAP4 | c.2250C>A (p.Asn750Lys) c.2223C>A (p.Asn741Lys) n.2362C>A | |
X | g.50192464T>A | CA413187656 | AKAP4 | c.2249A>T (p.Asn750Ile) c.2222A>T (p.Asn741Ile) n.2361A>T | |
X | g.50192464T>C | CA413187657 | AKAP4 | c.2249A>G (p.Asn750Ser) c.2222A>G (p.Asn741Ser) n.2361A>G | |
X | g.50192464T>G | CA413187658 | AKAP4 | c.2249A>C (p.Asn750Thr) c.2222A>C (p.Asn741Thr) n.2361A>C | |
X | g.50192465T>A | CA413187659 | AKAP4 | c.2248A>T (p.Asn750Tyr) c.2221A>T (p.Asn741Tyr) n.2360A>T | |
X | g.50192465T>C | CA413187661 | AKAP4 | c.2248A>G (p.Asn750Asp) c.2221A>G (p.Asn741Asp) n.2360A>G | |
X | g.50192465T>G | CA413187660 | AKAP4 | c.2248A>C (p.Asn750His) c.2221A>C (p.Asn741His) n.2360A>C | |
X | g.50192466C>A | CA413187662 | AKAP4 | c.2247G>T (p.Gln749His) c.2220G>T (p.Gln740His) n.2359G>T | COSMIC |
X | g.50192466C>G | CA413187663 | AKAP4 | c.2247G>C (p.Gln749His) c.2220G>C (p.Gln740His) n.2359G>C | gnomAD v4 |
X | g.50192466C>T | CA516679726 | AKAP4 | c.2247G>A (p.Gln749=) c.2220G>A (p.Gln740=) n.2359G>A | |
X | g.50192467T>A | CA413187664 | AKAP4 | c.2246A>T (p.Gln749Leu) c.2219A>T (p.Gln740Leu) n.2358A>T | |
X | g.50192467T>C | CA413187665 | AKAP4 | c.2246A>G (p.Gln749Arg) c.2219A>G (p.Gln740Arg) n.2358A>G | |
X | g.50192467T>G | CA413187666 | AKAP4 | c.2246A>C (p.Gln749Pro) c.2219A>C (p.Gln740Pro) n.2358A>C | |
X | g.50192468G>A | CA413187667 | AKAP4 | c.2245C>T (p.Gln749Ter) c.2218C>T (p.Gln740Ter) n.2357C>T | |
X | g.50192468G>C | CA413187668 | AKAP4 | c.2245C>G (p.Gln749Glu) c.2218C>G (p.Gln740Glu) n.2357C>G | |
X | g.50192468G>T | CA413187669 | AKAP4 | c.2245C>A (p.Gln749Lys) c.2218C>A (p.Gln740Lys) n.2357C>A | |
X | g.50192469T>A | CA516679739 | AKAP4 | c.2244A>T (p.Pro748=) c.2217A>T (p.Pro739=) n.2356A>T | |
X | g.50192469T>C | CA516679741 | AKAP4 | c.2244A>G (p.Pro748=) c.2217A>G (p.Pro739=) n.2356A>G | |
X | g.50192469T>G | CA516679740 | AKAP4 | c.2244A>C (p.Pro748=) c.2217A>C (p.Pro739=) n.2356A>C | |
X | g.50192470G>A | CA413187670 | AKAP4 | c.2243C>T (p.Pro748Leu) c.2216C>T (p.Pro739Leu) n.2355C>T | |
X | g.50192470G>C | CA413187671 | AKAP4 | c.2243C>G (p.Pro748Arg) c.2216C>G (p.Pro739Arg) n.2355C>G | |
X | g.50192470G= | CA2428802745 | AKAP4 | c.2243C= (p.Pro748=) c.2216C= (p.Pro739=) n.2355C= | |
X | g.50192470G>T | CA10414129 | AKAP4 | c.2243C>A (p.Pro748Gln) c.2216C>A (p.Pro739Gln) n.2355C>A | dbSNP ExAC |
X | g.50192471G>A | CA413187673 | AKAP4 | c.2242C>T (p.Pro748Ser) c.2215C>T (p.Pro739Ser) n.2354C>T | gnomAD v4 |
X | g.50192471G>C | CA413187674 | AKAP4 | c.2242C>G (p.Pro748Ala) c.2215C>G (p.Pro739Ala) n.2354C>G | |
X | g.50192471G>T | CA413187672 | AKAP4 | c.2242C>A (p.Pro748Thr) c.2215C>A (p.Pro739Thr) n.2354C>A | gnomAD v4 |
X | g.50192472C>A | CA413187675 | AKAP4 | c.2241G>T (p.Met747Ile) c.2214G>T (p.Met738Ile) n.2353G>T | |
X | g.50192472C>G | CA413187676 | AKAP4 | c.2241G>C (p.Met747Ile) c.2214G>C (p.Met738Ile) n.2353G>C | |
X | g.50192472C>T | CA413187677 | AKAP4 | c.2241G>A (p.Met747Ile) c.2214G>A (p.Met738Ile) n.2353G>A | |
X | g.50192473A>C | CA413187678 | AKAP4 | c.2240T>G (p.Met747Arg) c.2213T>G (p.Met738Arg) n.2352T>G | |
X | g.50192473A>G | CA413187679 | AKAP4 | c.2240T>C (p.Met747Thr) c.2213T>C (p.Met738Thr) n.2352T>C | |
X | g.50192473A>T | CA413187680 | AKAP4 | c.2240T>A (p.Met747Lys) c.2213T>A (p.Met738Lys) n.2352T>A | |
X | g.50192474T>A | CA413187683 | AKAP4 | c.2239A>T (p.Met747Leu) c.2212A>T (p.Met738Leu) n.2351A>T | gnomAD v4 |
X | g.50192474T>C | CA413187681 | AKAP4 | c.2239A>G (p.Met747Val) c.2212A>G (p.Met738Val) n.2351A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.50192474T>G | CA413187682 | AKAP4 | c.2239A>C (p.Met747Leu) c.2212A>C (p.Met738Leu) n.2351A>C | |
X | g.50192474T= | CA2428802746 | AKAP4 | c.2239A= (p.Met747=) c.2212A= (p.Met738=) n.2351A= | |
X | g.50192475T>A | CA516679769 | AKAP4 | c.2238A>T (p.Ala746=) c.2211A>T (p.Ala737=) n.2350A>T | |
X | g.50192475T>C | CA516679770 | AKAP4 | c.2238A>G (p.Ala746=) c.2211A>G (p.Ala737=) n.2350A>G | |
X | g.50192475T>G | CA516679773 | AKAP4 | c.2238A>C (p.Ala746=) c.2211A>C (p.Ala737=) n.2350A>C | |
X | g.50192476G>A | CA413187684 | AKAP4 | c.2237C>T (p.Ala746Val) c.2210C>T (p.Ala737Val) n.2349C>T | gnomAD v4 |
X | g.50192476G>C | CA413187685 | AKAP4 | c.2237C>G (p.Ala746Gly) c.2210C>G (p.Ala737Gly) n.2349C>G | |
X | g.50192476G>T | CA413187686 | AKAP4 | c.2237C>A (p.Ala746Glu) c.2210C>A (p.Ala737Glu) n.2349C>A | |
X | g.50192477C>A | CA413187687 | AKAP4 | c.2236G>T (p.Ala746Ser) c.2209G>T (p.Ala737Ser) n.2348G>T | |
X | g.50192477C>G | CA413187688 | AKAP4 | c.2236G>C (p.Ala746Pro) c.2209G>C (p.Ala737Pro) n.2348G>C | |
X | g.50192477C>T | CA413187689 | AKAP4 | c.2236G>A (p.Ala746Thr) c.2209G>A (p.Ala737Thr) n.2348G>A | COSMIC |
X | g.50192478A>C | CA516679785 | AKAP4 | c.2235T>G (p.Gly745=) c.2208T>G (p.Gly736=) n.2347T>G | |
X | g.50192478A>G | CA516679788 | AKAP4 | c.2235T>C (p.Gly745=) c.2208T>C (p.Gly736=) n.2347T>C | ClinVar |
X | g.50192478A>T | CA516679791 | AKAP4 | c.2235T>A (p.Gly745=) c.2208T>A (p.Gly736=) n.2347T>A | |
X | g.50192479C>A | CA413187690 | AKAP4 | c.2234G>T (p.Gly745Val) c.2207G>T (p.Gly736Val) n.2346G>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.50192479C= | CA2428802747 | AKAP4 | c.2234G= (p.Gly745=) c.2207G= (p.Gly736=) n.2346G= | |
X | g.50192479C>G | CA413187692 | AKAP4 | c.2234G>C (p.Gly745Ala) c.2207G>C (p.Gly736Ala) n.2346G>C | |
X | g.50192479C>T | CA413187691 | AKAP4 | c.2234G>A (p.Gly745Asp) c.2207G>A (p.Gly736Asp) n.2346G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50192480C>A | CA413187693 | AKAP4 | c.2233G>T (p.Gly745Cys) c.2206G>T (p.Gly736Cys) n.2345G>T | |
X | g.50192480C>G | CA413187694 | AKAP4 | c.2233G>C (p.Gly745Arg) c.2206G>C (p.Gly736Arg) n.2345G>C | |
X | g.50192480C>T | CA413187695 | AKAP4 | c.2233G>A (p.Gly745Ser) c.2206G>A (p.Gly736Ser) n.2345G>A | gnomAD v4 |
X | g.50192480_50192481insTGGC | CA2693739764 | AKAP4 | c.2233_2234insCCAG (p.Gly745AlafsTer15) c.2206_2207insCCAG (p.Gly736AlafsTer15) n.2345_2346insCCAG | gnomAD v4 |
X | g.50192481A>C | CA413187696 | AKAP4 | c.2232T>G (p.Ser744Arg) c.2205T>G (p.Ser735Arg) n.2344T>G | |
X | g.50192481A>G | CA516679798 | AKAP4 | c.2232T>C (p.Ser744=) c.2205T>C (p.Ser735=) n.2344T>C | |
X | g.50192481A>T | CA413187697 | AKAP4 | c.2232T>A (p.Ser744Arg) c.2205T>A (p.Ser735Arg) n.2344T>A | gnomAD v4 |
X | g.50192481_50192482insTT | CA2693739765 | AKAP4 | c.2231_2232insAA (p.Ser744ArgfsTer17) c.2204_2205insAA (p.Ser735ArgfsTer17) n.2343_2344insAA | gnomAD v4 |
X | g.50192482C>A | CA413187698 | AKAP4 | c.2231G>T (p.Ser744Ile) c.2204G>T (p.Ser735Ile) n.2343G>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.50192482C= | CA2428802748 | AKAP4 | c.2231G= (p.Ser744=) c.2204G= (p.Ser735=) n.2343G= | |
X | g.50192482C>G | CA413187699 | AKAP4 | c.2231G>C (p.Ser744Thr) c.2204G>C (p.Ser735Thr) n.2343G>C | |
X | g.50192482C>T | CA413187700 | AKAP4 | c.2231G>A (p.Ser744Asn) c.2204G>A (p.Ser735Asn) n.2343G>A | |
X | g.50192483T>A | CA413187701 | AKAP4 | c.2230A>T (p.Ser744Cys) c.2203A>T (p.Ser735Cys) n.2342A>T | |
X | g.50192483T>C | CA413187702 | AKAP4 | c.2230A>G (p.Ser744Gly) c.2203A>G (p.Ser735Gly) n.2342A>G | gnomAD v4 |
X | g.50192483T>G | CA413187703 | AKAP4 | c.2230A>C (p.Ser744Arg) c.2203A>C (p.Ser735Arg) n.2342A>C | |
X | g.50192484G>A | CA516679806 | AKAP4 | c.2229C>T (p.His743=) c.2202C>T (p.His734=) n.2341C>T | |
X | g.50192484G>C | CA413187704 | AKAP4 | c.2229C>G (p.His743Gln) c.2202C>G (p.His734Gln) n.2341C>G | gnomAD v4 |
X | g.50192484G>T | CA413187705 | AKAP4 | c.2229C>A (p.His743Gln) c.2202C>A (p.His734Gln) n.2341C>A | |
X | g.50192485T>A | CA413187706 | AKAP4 | c.2228A>T (p.His743Leu) c.2201A>T (p.His734Leu) n.2340A>T | |
X | g.50192485T>C | CA413187708 | AKAP4 | c.2228A>G (p.His743Arg) c.2201A>G (p.His734Arg) n.2340A>G | gnomAD v4 |
X | g.50192485T>G | CA413187707 | AKAP4 | c.2228A>C (p.His743Pro) c.2201A>C (p.His734Pro) n.2340A>C | |
X | g.50192486G>A | CA413187709 | AKAP4 | c.2227C>T (p.His743Tyr) c.2200C>T (p.His734Tyr) n.2339C>T | |
X | g.50192486G>C | CA413187710 | AKAP4 | c.2227C>G (p.His743Asp) c.2200C>G (p.His734Asp) n.2339C>G | |
X | g.50192486G>T | CA413187711 | AKAP4 | c.2227C>A (p.His743Asn) c.2200C>A (p.His734Asn) n.2339C>A | |
X | g.50192487A>C | CA413187712 | AKAP4 | c.2226T>G (p.Ile742Met) c.2199T>G (p.Ile733Met) n.2338T>G | |
X | g.50192487A>G | CA516679819 | AKAP4 | c.2226T>C (p.Ile742=) c.2199T>C (p.Ile733=) n.2338T>C | |
X | g.50192487A>T | CA516679820 | AKAP4 | c.2226T>A (p.Ile742=) c.2199T>A (p.Ile733=) n.2338T>A | |
X | g.50192488A= | CA2428802749 | AKAP4 | c.2225T= (p.Ile742=) c.2198T= (p.Ile733=) n.2337T= | |
X | g.50192488A>C | CA413187713 | AKAP4 | c.2225T>G (p.Ile742Ser) c.2198T>G (p.Ile733Ser) n.2337T>G | |
X | g.50192488A>G | CA10414130 | AKAP4 | c.2225T>C (p.Ile742Thr) c.2198T>C (p.Ile733Thr) n.2337T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50192488A>T | CA413187714 | AKAP4 | c.2225T>A (p.Ile742Asn) c.2198T>A (p.Ile733Asn) n.2337T>A | |
X | g.50192489T>A | CA413187715 | AKAP4 | c.2224A>T (p.Ile742Phe) c.2197A>T (p.Ile733Phe) n.2336A>T | |
X | g.50192489T>C | CA10414131 | AKAP4 | c.2224A>G (p.Ile742Val) c.2197A>G (p.Ile733Val) n.2336A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50192489T>G | CA413187716 | AKAP4 | c.2224A>C (p.Ile742Leu) c.2197A>C (p.Ile733Leu) n.2336A>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.50192489T= | CA2428802750 | AKAP4 | c.2224A= (p.Ile742=) c.2197A= (p.Ile733=) n.2336A= | |
X | g.50192490G>A | CA516679838 | AKAP4 | c.2223C>T (p.Cys741=) c.2196C>T (p.Cys732=) n.2335C>T | |
X | g.50192490G>C | CA413187717 | AKAP4 | c.2223C>G (p.Cys741Trp) c.2196C>G (p.Cys732Trp) n.2335C>G | |
X | g.50192490G>T | CA413187718 | AKAP4 | c.2223C>A (p.Cys741Ter) c.2196C>A (p.Cys732Ter) n.2335C>A | |
X | g.50192491C>A | CA413187720 | AKAP4 | c.2222G>T (p.Cys741Phe) c.2195G>T (p.Cys732Phe) n.2334G>T | |
X | g.50192491C>G | CA413187721 | AKAP4 | c.2222G>C (p.Cys741Ser) c.2195G>C (p.Cys732Ser) n.2334G>C | |
X | g.50192491C>T | CA413187719 | AKAP4 | c.2222G>A (p.Cys741Tyr) c.2195G>A (p.Cys732Tyr) n.2334G>A | |
X | g.50192492A= | CA2428802751 | AKAP4 | c.2221T= (p.Cys741=) c.2194T= (p.Cys732=) n.2333T= | |
X | g.50192492A>C | CA413187722 | AKAP4 | c.2221T>G (p.Cys741Gly) c.2194T>G (p.Cys732Gly) n.2333T>G | |
X | g.50192492A>G | CA413187723 | AKAP4 | c.2221T>C (p.Cys741Arg) c.2194T>C (p.Cys732Arg) n.2333T>C | |
X | g.50192492A>T | CA413187724 | AKAP4 | c.2221T>A (p.Cys741Ser) c.2194T>A (p.Cys732Ser) n.2333T>A | |
X | g.50192493T>A | CA413187725 | AKAP4 | c.2220A>T (p.Arg740Ser) c.2193A>T (p.Arg731Ser) n.2332A>T | gnomAD v4 |
X | g.50192493T>C | CA516679845 | AKAP4 | c.2220A>G (p.Arg740=) c.2193A>G (p.Arg731=) n.2332A>G | |
X | g.50192493T>G | CA413187726 | AKAP4 | c.2220A>C (p.Arg740Ser) c.2193A>C (p.Arg731Ser) n.2332A>C | |
X | g.50192494_50192495dup | CA920410869 | AKAP4 | c.2219_2220dup (p.Cys741AspfsTer20) c.2192_2193dup (p.Cys732AspfsTer20) n.2331_2332dup | dbSNP |
X | g.50192494C>A | CA413187729 | AKAP4 | c.2219G>T (p.Arg740Ile) c.2192G>T (p.Arg731Ile) n.2331G>T | |
X | g.50192494C>G | CA413187727 | AKAP4 | c.2219G>C (p.Arg740Thr) c.2192G>C (p.Arg731Thr) n.2331G>C | |
X | g.50192494C>T | CA413187728 | AKAP4 | c.2219G>A (p.Arg740Lys) c.2192G>A (p.Arg731Lys) n.2331G>A | COSMIC |
X | g.50192495T>A | CA413187730 | AKAP4 | c.2218A>T (p.Arg740Ter) c.2191A>T (p.Arg731Ter) n.2330A>T | |
X | g.50192495T>C | CA413187732 | AKAP4 | c.2218A>G (p.Arg740Gly) c.2191A>G (p.Arg731Gly) n.2330A>G | |
X | g.50192495T>G | CA516679854 | AKAP4 | c.2218A>C (p.Arg740=) c.2191A>C (p.Arg731=) n.2330A>C |