UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.50192595C>A | CA413188169 | AKAP4 | c.2118G>T (p.Lys706Asn) c.2091G>T (p.Lys697Asn) n.2230G>T | dbSNP |
| X | g.50192595C>G | CA413188171 | AKAP4 | c.2118G>C (p.Lys706Asn) c.2091G>C (p.Lys697Asn) n.2230G>C | |
| X | g.50192595C>T | CA516678921 | AKAP4 | c.2118G>A (p.Lys706=) c.2091G>A (p.Lys697=) n.2230G>A | |
| X | g.50192596T>A | CA413188172 | AKAP4 | c.2117A>T (p.Lys706Met) c.2090A>T (p.Lys697Met) n.2229A>T | |
| X | g.50192596T>C | CA413188174 | AKAP4 | c.2117A>G (p.Lys706Arg) c.2090A>G (p.Lys697Arg) n.2229A>G | |
| X | g.50192596T>G | CA413188176 | AKAP4 | c.2117A>C (p.Lys706Thr) c.2090A>C (p.Lys697Thr) n.2229A>C | |
| X | g.50192597T>A | CA413188178 | AKAP4 | c.2116A>T (p.Lys706Ter) c.2089A>T (p.Lys697Ter) n.2228A>T | |
| X | g.50192597T>C | CA413188180 | AKAP4 | c.2116A>G (p.Lys706Glu) c.2089A>G (p.Lys697Glu) n.2228A>G | dbSNP |
| X | g.50192597T>G | CA413188182 | AKAP4 | c.2116A>C (p.Lys706Gln) c.2089A>C (p.Lys697Gln) n.2228A>C | |
| X | g.50192598C>A | CA413188185 | AKAP4 | c.2115G>T (p.Met705Ile) c.2088G>T (p.Met696Ile) n.2227G>T | COSMIC |
| X | g.50192598C>G | CA413188186 | AKAP4 | c.2115G>C (p.Met705Ile) c.2088G>C (p.Met696Ile) n.2227G>C | |
| X | g.50192598C>T | CA413188188 | AKAP4 | c.2115G>A (p.Met705Ile) c.2088G>A (p.Met696Ile) n.2227G>A | |
| X | g.50192599A>C | CA413188194 | AKAP4 | c.2114T>G (p.Met705Arg) c.2087T>G (p.Met696Arg) n.2226T>G | |
| X | g.50192599A>G | CA413188192 | AKAP4 | c.2114T>C (p.Met705Thr) c.2087T>C (p.Met696Thr) n.2226T>C | COSMIC |
| X | g.50192599A>T | CA413188190 | AKAP4 | c.2114T>A (p.Met705Lys) c.2087T>A (p.Met696Lys) n.2226T>A | |
| X | g.50192600T>A | CA413188196 | AKAP4 | c.2113A>T (p.Met705Leu) c.2086A>T (p.Met696Leu) n.2225A>T | |
| X | g.50192600T>C | CA413188197 | AKAP4 | c.2113A>G (p.Met705Val) c.2086A>G (p.Met696Val) n.2225A>G | gnomAD v4 |
| X | g.50192600T>G | CA413188199 | AKAP4 | c.2113A>C (p.Met705Leu) c.2086A>C (p.Met696Leu) n.2225A>C | |
| X | g.50192601C>A | CA516678929 | AKAP4 | c.2112G>T (p.Val704=) c.2085G>T (p.Val695=) n.2224G>T | |
| X | g.50192601C>G | CA516678930 | AKAP4 | c.2112G>C (p.Val704=) c.2085G>C (p.Val695=) n.2224G>C | |
| X | g.50192601C>T | CA516678931 | AKAP4 | c.2112G>A (p.Val704=) c.2085G>A (p.Val695=) n.2224G>A | |
| X | g.50192602A>C | CA413188201 | AKAP4 | c.2111T>G (p.Val704Gly) c.2084T>G (p.Val695Gly) n.2223T>G | |
| X | g.50192602A>G | CA413188203 | AKAP4 | c.2111T>C (p.Val704Ala) c.2084T>C (p.Val695Ala) n.2223T>C | |
| X | g.50192602A>T | CA413188205 | AKAP4 | c.2111T>A (p.Val704Glu) c.2084T>A (p.Val695Glu) n.2223T>A | |
| X | g.50192603C>A | CA413188207 | AKAP4 | c.2110G>T (p.Val704Leu) c.2083G>T (p.Val695Leu) n.2222G>T | |
| X | g.50192603C>G | CA413188209 | AKAP4 | c.2110G>C (p.Val704Leu) c.2083G>C (p.Val695Leu) n.2222G>C | |
| X | g.50192603C>T | CA413188211 | AKAP4 | c.2110G>A (p.Val704Met) c.2083G>A (p.Val695Met) n.2222G>A | |
| X | g.50192604A>C | CA516678934 | AKAP4 | c.2109T>G (p.Ser703=) c.2082T>G (p.Ser694=) n.2221T>G | |
| X | g.50192604A>G | CA516678935 | AKAP4 | c.2109T>C (p.Ser703=) c.2082T>C (p.Ser694=) n.2221T>C | gnomAD v4 |
| X | g.50192604A>T | CA516678936 | AKAP4 | c.2109T>A (p.Ser703=) c.2082T>A (p.Ser694=) n.2221T>A | |
| X | g.50192605G>A | CA413188213 | AKAP4 | c.2108C>T (p.Ser703Phe) c.2081C>T (p.Ser694Phe) n.2220C>T | COSMIC |
| X | g.50192605G>C | CA413188214 | AKAP4 | c.2108C>G (p.Ser703Cys) c.2081C>G (p.Ser694Cys) n.2220C>G | |
| X | g.50192605G>T | CA413188215 | AKAP4 | c.2108C>A (p.Ser703Tyr) c.2081C>A (p.Ser694Tyr) n.2220C>A | |
| X | g.50192606A= | CA2428802788 | AKAP4 | c.2107T= (p.Ser703=) c.2080T= (p.Ser694=) n.2219T= | |
| X | g.50192606A>C | CA413188218 | AKAP4 | c.2107T>G (p.Ser703Ala) c.2080T>G (p.Ser694Ala) n.2219T>G | |
| X | g.50192606A>G | CA413188220 | AKAP4 | c.2107T>C (p.Ser703Pro) c.2080T>C (p.Ser694Pro) n.2219T>C | |
| X | g.50192606A>T | CA413188217 | AKAP4 | c.2107T>A (p.Ser703Thr) c.2080T>A (p.Ser694Thr) n.2219T>A | dbSNP |
| X | g.50192607T>A | CA413188224 | AKAP4 | c.2106A>T (p.Glu702Asp) c.2079A>T (p.Glu693Asp) n.2218A>T | |
| X | g.50192607T>C | CA516678939 | AKAP4 | c.2106A>G (p.Glu702=) c.2079A>G (p.Glu693=) n.2218A>G | |
| X | g.50192607T>G | CA413188222 | AKAP4 | c.2106A>C (p.Glu702Asp) c.2079A>C (p.Glu693Asp) n.2218A>C | |
| X | g.50192608T>A | CA413188226 | AKAP4 | c.2105A>T (p.Glu702Val) c.2078A>T (p.Glu693Val) n.2217A>T | |
| X | g.50192608T>C | CA413188228 | AKAP4 | c.2105A>G (p.Glu702Gly) c.2078A>G (p.Glu693Gly) n.2217A>G | |
| X | g.50192608T>G | CA413188230 | AKAP4 | c.2105A>C (p.Glu702Ala) c.2078A>C (p.Glu693Ala) n.2217A>C | |
| X | g.50192609C>A | CA413188232 | AKAP4 | c.2104G>T (p.Glu702Ter) c.2077G>T (p.Glu693Ter) n.2216G>T | |
| X | g.50192609C>G | CA413188234 | AKAP4 | c.2104G>C (p.Glu702Gln) c.2077G>C (p.Glu693Gln) n.2216G>C | |
| X | g.50192609C>T | CA413188236 | AKAP4 | c.2104G>A (p.Glu702Lys) c.2077G>A (p.Glu693Lys) n.2216G>A | |
| X | g.50192610T>A | CA516678942 | AKAP4 | c.2103A>T (p.Val701=) c.2076A>T (p.Val692=) n.2215A>T | |
| X | g.50192610T>C | CA516678944 | AKAP4 | c.2103A>G (p.Val701=) c.2076A>G (p.Val692=) n.2215A>G | |
| X | g.50192610T>G | CA516678945 | AKAP4 | c.2103A>C (p.Val701=) c.2076A>C (p.Val692=) n.2215A>C | |
| X | g.50192611A>C | CA413188238 | AKAP4 | c.2102T>G (p.Val701Gly) c.2075T>G (p.Val692Gly) n.2214T>G | |
| X | g.50192611A>G | CA413188240 | AKAP4 | c.2102T>C (p.Val701Ala) c.2075T>C (p.Val692Ala) n.2214T>C | |
| X | g.50192611A>T | CA413188242 | AKAP4 | c.2102T>A (p.Val701Glu) c.2075T>A (p.Val692Glu) n.2214T>A | |
| X | g.50192612C>A | CA413188244 | AKAP4 | c.2101G>T (p.Val701Leu) c.2074G>T (p.Val692Leu) n.2213G>T | |
| X | g.50192612C>G | CA413188246 | AKAP4 | c.2101G>C (p.Val701Leu) c.2074G>C (p.Val692Leu) n.2213G>C | |
| X | g.50192612C>T | CA413188248 | AKAP4 | c.2101G>A (p.Val701Ile) c.2074G>A (p.Val692Ile) n.2213G>A | |
| X | g.50192613T>A | CA516678948 | AKAP4 | c.2100A>T (p.Leu700=) c.2073A>T (p.Leu691=) n.2212A>T | |
| X | g.50192613T>C | CA516678949 | AKAP4 | c.2100A>G (p.Leu700=) c.2073A>G (p.Leu691=) n.2212A>G | |
| X | g.50192613T>G | CA516678947 | AKAP4 | c.2100A>C (p.Leu700=) c.2073A>C (p.Leu691=) n.2212A>C | |
| X | g.50192614A= | CA2428802789 | AKAP4 | c.2099T= (p.Leu700=) c.2072T= (p.Leu691=) n.2211T= | |
| X | g.50192614A>C | CA413188254 | AKAP4 | c.2099T>G (p.Leu700Arg) c.2072T>G (p.Leu691Arg) n.2211T>G | |
| X | g.50192614A>G | CA329787853 | AKAP4 | c.2099T>C (p.Leu700Pro) c.2072T>C (p.Leu691Pro) n.2211T>C | dbSNP |
| X | g.50192614A>T | CA413188251 | AKAP4 | c.2099T>A (p.Leu700Gln) c.2072T>A (p.Leu691Gln) n.2211T>A | |
| X | g.50192615G>A | CA516678951 | AKAP4 | c.2098C>T (p.Leu700=) c.2071C>T (p.Leu691=) n.2210C>T | |
| X | g.50192615G>C | CA413188256 | AKAP4 | c.2098C>G (p.Leu700Val) c.2071C>G (p.Leu691Val) n.2210C>G | |
| X | g.50192615G>T | CA413188258 | AKAP4 | c.2098C>A (p.Leu700Ile) c.2071C>A (p.Leu691Ile) n.2210C>A | |
| X | g.50192616T>A | CA413188260 | AKAP4 | c.2097A>T (p.Lys699Asn) c.2070A>T (p.Lys690Asn) n.2209A>T | |
| X | g.50192616T>C | CA516678958 | AKAP4 | c.2097A>G (p.Lys699=) c.2070A>G (p.Lys690=) n.2209A>G | |
| X | g.50192616T>G | CA413188262 | AKAP4 | c.2097A>C (p.Lys699Asn) c.2070A>C (p.Lys690Asn) n.2209A>C | |
| X | g.50192617T>A | CA413188264 | AKAP4 | c.2096A>T (p.Lys699Ile) c.2069A>T (p.Lys690Ile) n.2208A>T | |
| X | g.50192617T>C | CA413188266 | AKAP4 | c.2096A>G (p.Lys699Arg) c.2069A>G (p.Lys690Arg) n.2208A>G | gnomAD v4 |
| X | g.50192617T>G | CA413188268 | AKAP4 | c.2096A>C (p.Lys699Thr) c.2069A>C (p.Lys690Thr) n.2208A>C | |
| X | g.50192618T>A | CA413188270 | AKAP4 | c.2095A>T (p.Lys699Ter) c.2068A>T (p.Lys690Ter) n.2207A>T | |
| X | g.50192618T>C | CA413188272 | AKAP4 | c.2095A>G (p.Lys699Glu) c.2068A>G (p.Lys690Glu) n.2207A>G | |
| X | g.50192618T>G | CA413188274 | AKAP4 | c.2095A>C (p.Lys699Gln) c.2068A>C (p.Lys690Gln) n.2207A>C | |
| X | g.50192619A>C | CA413188277 | AKAP4 | c.2094T>G (p.Asp698Glu) c.2067T>G (p.Asp689Glu) n.2206T>G | |
| X | g.50192619A>G | CA516678965 | AKAP4 | c.2094T>C (p.Asp698=) c.2067T>C (p.Asp689=) n.2206T>C | |
| X | g.50192619A>T | CA413188278 | AKAP4 | c.2094T>A (p.Asp698Glu) c.2067T>A (p.Asp689Glu) n.2206T>A | |
| X | g.50192620T>A | CA413188284 | AKAP4 | c.2093A>T (p.Asp698Val) c.2066A>T (p.Asp689Val) n.2205A>T | |
| X | g.50192620T>C | CA413188282 | AKAP4 | c.2093A>G (p.Asp698Gly) c.2066A>G (p.Asp689Gly) n.2205A>G | ClinVar dbSNP |
| X | g.50192620T>G | CA413188280 | AKAP4 | c.2093A>C (p.Asp698Ala) c.2066A>C (p.Asp689Ala) n.2205A>C | |
| X | g.50192620T= | CA2428802790 | AKAP4 | c.2093A= (p.Asp698=) c.2066A= (p.Asp689=) n.2205A= | |
| X | g.50192621C>A | CA413188287 | AKAP4 | c.2092G>T (p.Asp698Tyr) c.2065G>T (p.Asp689Tyr) n.2204G>T | |
| X | g.50192621C>G | CA413188289 | AKAP4 | c.2092G>C (p.Asp698His) c.2065G>C (p.Asp689His) n.2204G>C | |
| X | g.50192621C>T | CA413188290 | AKAP4 | c.2092G>A (p.Asp698Asn) c.2065G>A (p.Asp689Asn) n.2204G>A | gnomAD v4 COSMIC |
| X | g.50192622T>A | CA516678969 | AKAP4 | c.2091A>T (p.Ile697=) c.2064A>T (p.Ile688=) n.2203A>T | |
| X | g.50192622T>C | CA413188294 | AKAP4 | c.2091A>G (p.Ile697Met) c.2064A>G (p.Ile688Met) n.2203A>G | |
| X | g.50192622T>G | CA516678970 | AKAP4 | c.2091A>C (p.Ile697=) c.2064A>C (p.Ile688=) n.2203A>C | |
| X | g.50192623A>C | CA413188296 | AKAP4 | c.2090T>G (p.Ile697Arg) c.2063T>G (p.Ile688Arg) n.2202T>G | COSMIC |
| X | g.50192623A>G | CA413188298 | AKAP4 | c.2090T>C (p.Ile697Thr) c.2063T>C (p.Ile688Thr) n.2202T>C | |
| X | g.50192623A>T | CA413188300 | AKAP4 | c.2090T>A (p.Ile697Lys) c.2063T>A (p.Ile688Lys) n.2202T>A | |
| X | g.50192624T>A | CA413188302 | AKAP4 | c.2089A>T (p.Ile697Leu) c.2062A>T (p.Ile688Leu) n.2201A>T | |
| X | g.50192624T>C | CA413188304 | AKAP4 | c.2089A>G (p.Ile697Val) c.2062A>G (p.Ile688Val) n.2201A>G | |
| X | g.50192624T>G | CA413188306 | AKAP4 | c.2089A>C (p.Ile697Leu) c.2062A>C (p.Ile688Leu) n.2201A>C | |
| X | g.50192625A>C | CA413188308 | AKAP4 | c.2088T>G (p.Phe696Leu) c.2061T>G (p.Phe687Leu) n.2200T>G | |
| X | g.50192625A>G | CA516678975 | AKAP4 | c.2088T>C (p.Phe696=) c.2061T>C (p.Phe687=) n.2200T>C | |
| X | g.50192625A>T | CA413188310 | AKAP4 | c.2088T>A (p.Phe696Leu) c.2061T>A (p.Phe687Leu) n.2200T>A | |
| X | g.50192626A>C | CA413188314 | AKAP4 | c.2087T>G (p.Phe696Cys) c.2060T>G (p.Phe687Cys) n.2199T>G | |
| X | g.50192626A>G | CA413188316 | AKAP4 | c.2087T>C (p.Phe696Ser) c.2060T>C (p.Phe687Ser) n.2199T>C | |
| X | g.50192626A>T | CA413188312 | AKAP4 | c.2087T>A (p.Phe696Tyr) c.2060T>A (p.Phe687Tyr) n.2199T>A | |
| X | g.50192627A= | CA2428802791 | AKAP4 | c.2086T= (p.Phe696=) c.2059T= (p.Phe687=) n.2198T= | |
| X | g.50192627A>C | CA413188319 | AKAP4 | c.2086T>G (p.Phe696Val) c.2059T>G (p.Phe687Val) n.2198T>G | |
| X | g.50192627A>G | CA413188320 | AKAP4 | c.2086T>C (p.Phe696Leu) c.2059T>C (p.Phe687Leu) n.2198T>C | dbSNP |
| X | g.50192627A>T | CA413188322 | AKAP4 | c.2086T>A (p.Phe696Ile) c.2059T>A (p.Phe687Ile) n.2198T>A | |
| X | g.50192628T>A | CA413188325 | AKAP4 | c.2085A>T (p.Gln695His) c.2058A>T (p.Gln686His) n.2197A>T | |
| X | g.50192628T>C | CA516678979 | AKAP4 | c.2085A>G (p.Gln695=) c.2058A>G (p.Gln686=) n.2197A>G | |
| X | g.50192628T>G | CA413188326 | AKAP4 | c.2085A>C (p.Gln695His) c.2058A>C (p.Gln686His) n.2197A>C | |
| X | g.50192629T>A | CA413188332 | AKAP4 | c.2084A>T (p.Gln695Leu) c.2057A>T (p.Gln686Leu) n.2196A>T | |
| X | g.50192629T>C | CA413188328 | AKAP4 | c.2084A>G (p.Gln695Arg) c.2057A>G (p.Gln686Arg) n.2196A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50192629T>G | CA413188330 | AKAP4 | c.2084A>C (p.Gln695Pro) c.2057A>C (p.Gln686Pro) n.2196A>C | |
| X | g.50192629T= | CA2428802792 | AKAP4 | c.2084A= (p.Gln695=) c.2057A= (p.Gln686=) n.2196A= | |
| X | g.50192630G>A | CA413188334 | AKAP4 | c.2083C>T (p.Gln695Ter) c.2056C>T (p.Gln686Ter) n.2195C>T | |
| X | g.50192630G>C | CA413188336 | AKAP4 | c.2083C>G (p.Gln695Glu) c.2056C>G (p.Gln686Glu) n.2195C>G | |
| X | g.50192630G= | CA2428802793 | AKAP4 | c.2083C= (p.Gln695=) c.2056C= (p.Gln686=) n.2195C= | |
| X | g.50192630G>T | CA413188338 | AKAP4 | c.2083C>A (p.Gln695Lys) c.2056C>A (p.Gln686Lys) n.2195C>A | dbSNP gnomAD v4 |
| X | g.50192631C>A | CA516678988 | AKAP4 | c.2082G>T (p.Gly694=) c.2055G>T (p.Gly685=) n.2194G>T | |
| X | g.50192631C>G | CA516678990 | AKAP4 | c.2082G>C (p.Gly694=) c.2055G>C (p.Gly685=) n.2194G>C | |
| X | g.50192631C>T | CA516678991 | AKAP4 | c.2082G>A (p.Gly694=) c.2055G>A (p.Gly685=) n.2194G>A | |
| X | g.50192633del | CA2555698915 | AKAP4 | c.2082del (p.Gln695AsnfsTer3) c.2055del (p.Gln686AsnfsTer3) n.2194del | |
| X | g.50192632C>A | CA413188341 | AKAP4 | c.2081G>T (p.Gly694Val) c.2054G>T (p.Gly685Val) n.2193G>T | |
| X | g.50192632C>G | CA413188342 | AKAP4 | c.2081G>C (p.Gly694Ala) c.2054G>C (p.Gly685Ala) n.2193G>C | |
| X | g.50192632C>T | CA413188344 | AKAP4 | c.2081G>A (p.Gly694Glu) c.2054G>A (p.Gly685Glu) n.2193G>A | COSMIC |
| X | g.50192633C>A | CA413188348 | AKAP4 | c.2080G>T (p.Gly694Trp) c.2053G>T (p.Gly685Trp) n.2192G>T | |
| X | g.50192633C= | CA2428802794 | AKAP4 | c.2080G= (p.Gly694=) c.2053G= (p.Gly685=) n.2192G= | |
| X | g.50192633C>G | CA413188350 | AKAP4 | c.2080G>C (p.Gly694Arg) c.2053G>C (p.Gly685Arg) n.2192G>C | |
| X | g.50192633C>T | CA413188347 | AKAP4 | c.2080G>A (p.Gly694Arg) c.2053G>A (p.Gly685Arg) n.2192G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192634G>A | CA10414145 | AKAP4 | c.2079C>T (p.Asn693=) c.2052C>T (p.Asn684=) n.2191C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.50192634G>C | CA413188353 | AKAP4 | c.2079C>G (p.Asn693Lys) c.2052C>G (p.Asn684Lys) n.2191C>G | |
| X | g.50192634G= | CA2428802795 | AKAP4 | c.2079C= (p.Asn693=) c.2052C= (p.Asn684=) n.2191C= | |
| X | g.50192634G>T | CA10414146 | AKAP4 | c.2079C>A (p.Asn693Lys) c.2052C>A (p.Asn684Lys) n.2191C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50192635T>A | CA413188357 | AKAP4 | c.2078A>T (p.Asn693Ile) c.2051A>T (p.Asn684Ile) n.2190A>T | |
| X | g.50192635T>C | CA413188360 | AKAP4 | c.2078A>G (p.Asn693Ser) c.2051A>G (p.Asn684Ser) n.2190A>G | |
| X | g.50192635T>G | CA413188358 | AKAP4 | c.2078A>C (p.Asn693Thr) c.2051A>C (p.Asn684Thr) n.2190A>C | |
| X | g.50192636T>A | CA413188363 | AKAP4 | c.2077A>T (p.Asn693Tyr) c.2050A>T (p.Asn684Tyr) n.2189A>T | |
| X | g.50192636T>C | CA413188364 | AKAP4 | c.2077A>G (p.Asn693Asp) c.2050A>G (p.Asn684Asp) n.2189A>G | |
| X | g.50192636T>G | CA413188366 | AKAP4 | c.2077A>C (p.Asn693His) c.2050A>C (p.Asn684His) n.2189A>C | |
| X | g.50192637C>A | CA516679002 | AKAP4 | c.2076G>T (p.Ala692=) c.2049G>T (p.Ala683=) n.2188G>T | |
| X | g.50192637C= | CA2428802796 | AKAP4 | c.2076G= (p.Ala692=) c.2049G= (p.Ala683=) n.2188G= | |
| X | g.50192637C>G | CA516679004 | AKAP4 | c.2076G>C (p.Ala692=) c.2049G>C (p.Ala683=) n.2188G>C | |
| X | g.50192637C>T | CA516679005 | AKAP4 | c.2076G>A (p.Ala692=) c.2049G>A (p.Ala683=) n.2188G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.50192638G>A | CA10414147 | AKAP4 | c.2075C>T (p.Ala692Val) c.2048C>T (p.Ala683Val) n.2187C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192638G>C | CA413188369 | AKAP4 | c.2075C>G (p.Ala692Gly) c.2048C>G (p.Ala683Gly) n.2187C>G | |
| X | g.50192638G= | CA2428802797 | AKAP4 | c.2075C= (p.Ala692=) c.2048C= (p.Ala683=) n.2187C= | |
| X | g.50192638G>T | CA413188371 | AKAP4 | c.2075C>A (p.Ala692Glu) c.2048C>A (p.Ala683Glu) n.2187C>A | COSMIC |
| X | g.50192639C>A | CA413188373 | AKAP4 | c.2074G>T (p.Ala692Ser) c.2047G>T (p.Ala683Ser) n.2186G>T | |
| X | g.50192639C>G | CA413188376 | AKAP4 | c.2074G>C (p.Ala692Pro) c.2047G>C (p.Ala683Pro) n.2186G>C | |
| X | g.50192639C>T | CA413188378 | AKAP4 | c.2074G>A (p.Ala692Thr) c.2047G>A (p.Ala683Thr) n.2186G>A | |
| X | g.50192640T>A | CA413188380 | AKAP4 | c.2073A>T (p.Gln691His) c.2046A>T (p.Gln682His) n.2185A>T | |
| X | g.50192640T>C | CA516679013 | AKAP4 | c.2073A>G (p.Gln691=) c.2046A>G (p.Gln682=) n.2185A>G | gnomAD v4 |
| X | g.50192640T>G | CA413188381 | AKAP4 | c.2073A>C (p.Gln691His) c.2046A>C (p.Gln682His) n.2185A>C | |
| X | g.50192641T>A | CA413188387 | AKAP4 | c.2072A>T (p.Gln691Leu) c.2045A>T (p.Gln682Leu) n.2184A>T | |
| X | g.50192641T>C | CA413188384 | AKAP4 | c.2072A>G (p.Gln691Arg) c.2045A>G (p.Gln682Arg) n.2184A>G | |
| X | g.50192641T>G | CA413188385 | AKAP4 | c.2072A>C (p.Gln691Pro) c.2045A>C (p.Gln682Pro) n.2184A>C | |
| X | g.50192642G>A | CA413188389 | AKAP4 | c.2071C>T (p.Gln691Ter) c.2044C>T (p.Gln682Ter) n.2183C>T | |
| X | g.50192642G>C | CA413188391 | AKAP4 | c.2071C>G (p.Gln691Glu) c.2044C>G (p.Gln682Glu) n.2183C>G | |
| X | g.50192642G>T | CA413188393 | AKAP4 | c.2071C>A (p.Gln691Lys) c.2044C>A (p.Gln682Lys) n.2183C>A | |
| X | g.50192643C>A | CA413188395 | AKAP4 | c.2070G>T (p.Lys690Asn) c.2043G>T (p.Lys681Asn) n.2182G>T | |
| X | g.50192643C>G | CA413188396 | AKAP4 | c.2070G>C (p.Lys690Asn) c.2043G>C (p.Lys681Asn) n.2182G>C | |
| X | g.50192643C>T | CA516679029 | AKAP4 | c.2070G>A (p.Lys690=) c.2043G>A (p.Lys681=) n.2182G>A | |
| X | g.50192644T>A | CA413188399 | AKAP4 | c.2069A>T (p.Lys690Met) c.2042A>T (p.Lys681Met) n.2181A>T | |
| X | g.50192644T>C | CA413188401 | AKAP4 | c.2069A>G (p.Lys690Arg) c.2042A>G (p.Lys681Arg) n.2181A>G | |
| X | g.50192644T>G | CA413188403 | AKAP4 | c.2069A>C (p.Lys690Thr) c.2042A>C (p.Lys681Thr) n.2181A>C | |
| X | g.50192645T>A | CA413188405 | AKAP4 | c.2068A>T (p.Lys690Ter) c.2041A>T (p.Lys681Ter) n.2180A>T | |
| X | g.50192645T>C | CA413188407 | AKAP4 | c.2068A>G (p.Lys690Glu) c.2041A>G (p.Lys681Glu) n.2180A>G | |
| X | g.50192645T>G | CA413188409 | AKAP4 | c.2068A>C (p.Lys690Gln) c.2041A>C (p.Lys681Gln) n.2180A>C | |
| X | g.50192646C>A | CA413188413 | AKAP4 | c.2067G>T (p.Met689Ile) c.2040G>T (p.Met680Ile) n.2179G>T | |
| X | g.50192646C>G | CA413188415 | AKAP4 | c.2067G>C (p.Met689Ile) c.2040G>C (p.Met680Ile) n.2179G>C | |
| X | g.50192646C>T | CA413188411 | AKAP4 | c.2067G>A (p.Met689Ile) c.2040G>A (p.Met680Ile) n.2179G>A | |
| X | g.50192647A>C | CA413188417 | AKAP4 | c.2066T>G (p.Met689Arg) c.2039T>G (p.Met680Arg) n.2178T>G | |
| X | g.50192647A>G | CA413188419 | AKAP4 | c.2066T>C (p.Met689Thr) c.2039T>C (p.Met680Thr) n.2178T>C | |
| X | g.50192647A>T | CA413188421 | AKAP4 | c.2066T>A (p.Met689Lys) c.2039T>A (p.Met680Lys) n.2178T>A | COSMIC |
| X | g.50192648T>A | CA413188423 | AKAP4 | c.2065A>T (p.Met689Leu) c.2038A>T (p.Met680Leu) n.2177A>T | |
| X | g.50192648T>C | CA413188425 | AKAP4 | c.2065A>G (p.Met689Val) c.2038A>G (p.Met680Val) n.2177A>G | |
| X | g.50192648T>G | CA10414148 | AKAP4 | c.2065A>C (p.Met689Leu) c.2038A>C (p.Met680Leu) n.2177A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50192648T= | CA2428802798 | AKAP4 | c.2065A= (p.Met689=) c.2038A= (p.Met680=) n.2177A= | |
| X | g.50192649C>A | CA516679041 | AKAP4 | c.2064G>T (p.Gly688=) c.2037G>T (p.Gly679=) n.2176G>T | |
| X | g.50192649C>G | CA516679045 | AKAP4 | c.2064G>C (p.Gly688=) c.2037G>C (p.Gly679=) n.2176G>C | gnomAD v4 |
| X | g.50192649C>T | CA516679047 | AKAP4 | c.2064G>A (p.Gly688=) c.2037G>A (p.Gly679=) n.2176G>A | |
| X | g.50192650C>A | CA413188431 | AKAP4 | c.2063G>T (p.Gly688Val) c.2036G>T (p.Gly679Val) n.2175G>T | |
| X | g.50192650C>G | CA413188427 | AKAP4 | c.2063G>C (p.Gly688Ala) c.2036G>C (p.Gly679Ala) n.2175G>C | |
| X | g.50192650C>T | CA413188429 | AKAP4 | c.2063G>A (p.Gly688Glu) c.2036G>A (p.Gly679Glu) n.2175G>A | COSMIC |
| X | g.50192651C>A | CA413188433 | AKAP4 | c.2062G>T (p.Gly688Trp) c.2035G>T (p.Gly679Trp) n.2174G>T | |
| X | g.50192651C>G | CA413188435 | AKAP4 | c.2062G>C (p.Gly688Arg) c.2035G>C (p.Gly679Arg) n.2174G>C | |
| X | g.50192651C>T | CA413188437 | AKAP4 | c.2062G>A (p.Gly688Arg) c.2035G>A (p.Gly679Arg) n.2174G>A | gnomAD v4 |
| X | g.50192652A>C | CA413188439 | AKAP4 | c.2061T>G (p.Ser687Arg) c.2034T>G (p.Ser678Arg) n.2173T>G | |
| X | g.50192652A>G | CA516679054 | AKAP4 | c.2061T>C (p.Ser687=) c.2034T>C (p.Ser678=) n.2173T>C | |
| X | g.50192652A>T | CA413188441 | AKAP4 | c.2061T>A (p.Ser687Arg) c.2034T>A (p.Ser678Arg) n.2173T>A | |
| X | g.50192653C>A | CA413188443 | AKAP4 | c.2060G>T (p.Ser687Ile) c.2033G>T (p.Ser678Ile) n.2172G>T | |
| X | g.50192653C>G | CA413188446 | AKAP4 | c.2060G>C (p.Ser687Thr) c.2033G>C (p.Ser678Thr) n.2172G>C | |
| X | g.50192653C>T | CA413188445 | AKAP4 | c.2060G>A (p.Ser687Asn) c.2033G>A (p.Ser678Asn) n.2172G>A | |
| X | g.50192654T>A | CA413188449 | AKAP4 | c.2059A>T (p.Ser687Cys) c.2032A>T (p.Ser678Cys) n.2171A>T | |
| X | g.50192654T>C | CA413188451 | AKAP4 | c.2059A>G (p.Ser687Gly) c.2032A>G (p.Ser678Gly) n.2171A>G | |
| X | g.50192654T>G | CA413188453 | AKAP4 | c.2059A>C (p.Ser687Arg) c.2032A>C (p.Ser678Arg) n.2171A>C | |
| X | g.50192655G>A | CA516679068 | AKAP4 | c.2058C>T (p.Thr686=) c.2031C>T (p.Thr677=) n.2170C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192655G>C | CA516679072 | AKAP4 | c.2058C>G (p.Thr686=) c.2031C>G (p.Thr677=) n.2170C>G | |
| X | g.50192655G= | CA2428802799 | AKAP4 | c.2058C= (p.Thr686=) c.2031C= (p.Thr677=) n.2170C= | |
| X | g.50192655G>T | CA516679073 | AKAP4 | c.2058C>A (p.Thr686=) c.2031C>A (p.Thr677=) n.2170C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192656G>A | CA413188455 | AKAP4 | c.2057C>T (p.Thr686Ile) c.2030C>T (p.Thr677Ile) n.2169C>T | gnomAD v4 |
| X | g.50192656G>C | CA413188457 | AKAP4 | c.2057C>G (p.Thr686Ser) c.2030C>G (p.Thr677Ser) n.2169C>G | dbSNP gnomAD v4 |
| X | g.50192656G= | CA2428802800 | AKAP4 | c.2057C= (p.Thr686=) c.2030C= (p.Thr677=) n.2169C= | |
| X | g.50192656G>T | CA413188458 | AKAP4 | c.2057C>A (p.Thr686Asn) c.2030C>A (p.Thr677Asn) n.2169C>A | |
| X | g.50192657T>A | CA413188461 | AKAP4 | c.2056A>T (p.Thr686Ser) c.2029A>T (p.Thr677Ser) n.2168A>T | |
| X | g.50192657T>C | CA413188463 | AKAP4 | c.2056A>G (p.Thr686Ala) c.2029A>G (p.Thr677Ala) n.2168A>G | |
| X | g.50192657T>G | CA413188465 | AKAP4 | c.2056A>C (p.Thr686Pro) c.2029A>C (p.Thr677Pro) n.2168A>C | |
| X | g.50192658A>C | CA413188467 | AKAP4 | c.2055T>G (p.Cys685Trp) c.2028T>G (p.Cys676Trp) n.2167T>G | |
| X | g.50192658A>G | CA516679084 | AKAP4 | c.2055T>C (p.Cys685=) c.2028T>C (p.Cys676=) n.2167T>C | gnomAD v4 |
| X | g.50192658A>T | CA413188469 | AKAP4 | c.2055T>A (p.Cys685Ter) c.2028T>A (p.Cys676Ter) n.2167T>A | |
| X | g.50192659_50192660del | CA2579610893 | AKAP4 | c.2054_2055del (p.Cys685TyrfsTer14) c.2027_2028del (p.Cys676TyrfsTer14) n.2166_2167del | |
| X | g.50192659C>A | CA413188475 | AKAP4 | c.2054G>T (p.Cys685Phe) c.2027G>T (p.Cys676Phe) n.2166G>T | |
| X | g.50192659C= | CA2428802801 | AKAP4 | c.2054G= (p.Cys685=) c.2027G= (p.Cys676=) n.2166G= | |
| X | g.50192659C>G | CA413188473 | AKAP4 | c.2054G>C (p.Cys685Ser) c.2027G>C (p.Cys676Ser) n.2166G>C | |
| X | g.50192659C>T | CA413188471 | AKAP4 | c.2054G>A (p.Cys685Tyr) c.2027G>A (p.Cys676Tyr) n.2166G>A | dbSNP gnomAD v4 |
| X | g.50192660A>C | CA413188477 | AKAP4 | c.2053T>G (p.Cys685Gly) c.2026T>G (p.Cys676Gly) n.2165T>G | |
| X | g.50192660A>G | CA413188479 | AKAP4 | c.2053T>C (p.Cys685Arg) c.2026T>C (p.Cys676Arg) n.2165T>C | gnomAD v4 |
| X | g.50192660A>T | CA413188481 | AKAP4 | c.2053T>A (p.Cys685Ser) c.2026T>A (p.Cys676Ser) n.2165T>A | gnomAD v4 |
| X | g.50192661G>A | CA516679099 | AKAP4 | c.2052C>T (p.Asp684=) c.2025C>T (p.Asp675=) n.2164C>T | |
| X | g.50192661G>C | CA413188483 | AKAP4 | c.2052C>G (p.Asp684Glu) c.2025C>G (p.Asp675Glu) n.2164C>G | gnomAD v4 |
| X | g.50192661G>T | CA413188485 | AKAP4 | c.2052C>A (p.Asp684Glu) c.2025C>A (p.Asp675Glu) n.2164C>A | |
| X | g.50192662T>A | CA413188491 | AKAP4 | c.2051A>T (p.Asp684Val) c.2024A>T (p.Asp675Val) n.2163A>T | gnomAD v4 |
| X | g.50192662T>C | CA413188489 | AKAP4 | c.2051A>G (p.Asp684Gly) c.2024A>G (p.Asp675Gly) n.2163A>G | |
| X | g.50192662T>G | CA413188487 | AKAP4 | c.2051A>C (p.Asp684Ala) c.2024A>C (p.Asp675Ala) n.2163A>C | |
| X | g.50192663C>A | CA413188494 | AKAP4 | c.2050G>T (p.Asp684Tyr) c.2023G>T (p.Asp675Tyr) n.2162G>T | gnomAD v4 |
| X | g.50192663C= | CA2428802802 | AKAP4 | c.2050G= (p.Asp684=) c.2023G= (p.Asp675=) n.2162G= | |
| X | g.50192663C>G | CA413188496 | AKAP4 | c.2050G>C (p.Asp684His) c.2023G>C (p.Asp675His) n.2162G>C | dbSNP |
| X | g.50192663C>T | CA10414149 | AKAP4 | c.2050G>A (p.Asp684Asn) c.2023G>A (p.Asp675Asn) n.2162G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192664A>C | CA516679110 | AKAP4 | c.2049T>G (p.Leu683=) c.2022T>G (p.Leu674=) n.2161T>G | |
| X | g.50192664A>G | CA516679111 | AKAP4 | c.2049T>C (p.Leu683=) c.2022T>C (p.Leu674=) n.2161T>C | |
| X | g.50192664A>T | CA516679112 | AKAP4 | c.2049T>A (p.Leu683=) c.2022T>A (p.Leu674=) n.2161T>A | |
| X | g.50192665A= | CA2428802803 | AKAP4 | c.2048T= (p.Leu683=) c.2021T= (p.Leu674=) n.2160T= | |
| X | g.50192665A>C | CA413188499 | AKAP4 | c.2048T>G (p.Leu683Arg) c.2021T>G (p.Leu674Arg) n.2160T>G | |
| X | g.50192665A>G | CA413188501 | AKAP4 | c.2048T>C (p.Leu683Pro) c.2021T>C (p.Leu674Pro) n.2160T>C | dbSNP gnomAD v2 |
| X | g.50192665A>T | CA413188503 | AKAP4 | c.2048T>A (p.Leu683His) c.2021T>A (p.Leu674His) n.2160T>A | |
| X | g.50192666G>A | CA413188509 | AKAP4 | c.2047C>T (p.Leu683Phe) c.2020C>T (p.Leu674Phe) n.2159C>T | |
| X | g.50192666G>C | CA413188506 | AKAP4 | c.2047C>G (p.Leu683Val) c.2020C>G (p.Leu674Val) n.2159C>G | gnomAD v4 |
| X | g.50192666G>T | CA413188507 | AKAP4 | c.2047C>A (p.Leu683Ile) c.2020C>A (p.Leu674Ile) n.2159C>A | gnomAD v4 |
| X | g.50192667T>A | CA413188512 | AKAP4 | c.2046A>T (p.Glu682Asp) c.2019A>T (p.Glu673Asp) n.2158A>T | |
| X | g.50192667T>C | CA516679119 | AKAP4 | c.2046A>G (p.Glu682=) c.2019A>G (p.Glu673=) n.2158A>G | |
| X | g.50192667T>G | CA413188513 | AKAP4 | c.2046A>C (p.Glu682Asp) c.2019A>C (p.Glu673Asp) n.2158A>C | |
| X | g.50192668T>A | CA413188515 | AKAP4 | c.2045A>T (p.Glu682Val) c.2018A>T (p.Glu673Val) n.2157A>T | |
| X | g.50192668T>C | CA413188517 | AKAP4 | c.2045A>G (p.Glu682Gly) c.2018A>G (p.Glu673Gly) n.2157A>G | |
| X | g.50192668T>G | CA413188518 | AKAP4 | c.2045A>C (p.Glu682Ala) c.2018A>C (p.Glu673Ala) n.2157A>C | |
| X | g.50192669C>A | CA413188520 | AKAP4 | c.2044G>T (p.Glu682Ter) c.2017G>T (p.Glu673Ter) n.2156G>T | |
| X | g.50192669C>G | CA413188521 | AKAP4 | c.2044G>C (p.Glu682Gln) c.2017G>C (p.Glu673Gln) n.2156G>C | |
| X | g.50192669C>T | CA413188523 | AKAP4 | c.2044G>A (p.Glu682Lys) c.2017G>A (p.Glu673Lys) n.2156G>A | |
| X | g.50192670T>A | CA413188525 | AKAP4 | c.2043A>T (p.Gln681His) c.2016A>T (p.Gln672His) n.2155A>T | |
| X | g.50192670T>C | CA516679126 | AKAP4 | c.2043A>G (p.Gln681=) c.2016A>G (p.Gln672=) n.2155A>G | |
| X | g.50192670T>G | CA413188526 | AKAP4 | c.2043A>C (p.Gln681His) c.2016A>C (p.Gln672His) n.2155A>C | |
| X | g.50192671T>A | CA413188528 | AKAP4 | c.2042A>T (p.Gln681Leu) c.2015A>T (p.Gln672Leu) n.2154A>T | |
| X | g.50192671T>C | CA413188530 | AKAP4 | c.2042A>G (p.Gln681Arg) c.2015A>G (p.Gln672Arg) n.2154A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192671T>G | CA413188532 | AKAP4 | c.2042A>C (p.Gln681Pro) c.2015A>C (p.Gln672Pro) n.2154A>C | |
| X | g.50192671T= | CA2428802804 | AKAP4 | c.2042A= (p.Gln681=) c.2015A= (p.Gln672=) n.2154A= | |
| X | g.50192672G>A | CA413188534 | AKAP4 | c.2041C>T (p.Gln681Ter) c.2014C>T (p.Gln672Ter) n.2153C>T | |
| X | g.50192672G>C | CA413188538 | AKAP4 | c.2041C>G (p.Gln681Glu) c.2014C>G (p.Gln672Glu) n.2153C>G | COSMIC |
| X | g.50192672G>T | CA413188536 | AKAP4 | c.2041C>A (p.Gln681Lys) c.2014C>A (p.Gln672Lys) n.2153C>A | |
| X | g.50192673A>C | CA413188540 | AKAP4 | c.2040T>G (p.His680Gln) c.2013T>G (p.His671Gln) n.2152T>G | |
| X | g.50192673A>G | CA516679138 | AKAP4 | c.2040T>C (p.His680=) c.2013T>C (p.His671=) n.2152T>C | |
| X | g.50192673A>T | CA413188542 | AKAP4 | c.2040T>A (p.His680Gln) c.2013T>A (p.His671Gln) n.2152T>A | |
| X | g.50192674T>A | CA413188545 | AKAP4 | c.2039A>T (p.His680Leu) c.2012A>T (p.His671Leu) n.2151A>T | |
| X | g.50192674T>C | CA10414150 | AKAP4 | c.2039A>G (p.His680Arg) c.2012A>G (p.His671Arg) n.2151A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192674T>G | CA413188548 | AKAP4 | c.2039A>C (p.His680Pro) c.2012A>C (p.His671Pro) n.2151A>C | |
| X | g.50192674T= | CA2428802805 | AKAP4 | c.2039A= (p.His680=) c.2012A= (p.His671=) n.2151A= | |
| X | g.50192675G>A | CA413188549 | AKAP4 | c.2038C>T (p.His680Tyr) c.2011C>T (p.His671Tyr) n.2150C>T | |
| X | g.50192675G>C | CA413188551 | AKAP4 | c.2038C>G (p.His680Asp) c.2011C>G (p.His671Asp) n.2150C>G | |
| X | g.50192675G>T | CA413188553 | AKAP4 | c.2038C>A (p.His680Asn) c.2011C>A (p.His671Asn) n.2150C>A | |
| X | g.50192676C>A | CA413188555 | AKAP4 | c.2037G>T (p.Glu679Asp) c.2010G>T (p.Glu670Asp) n.2149G>T | |
| X | g.50192676C>G | CA413188557 | AKAP4 | c.2037G>C (p.Glu679Asp) c.2010G>C (p.Glu670Asp) n.2149G>C | |
| X | g.50192676C>T | CA516679144 | AKAP4 | c.2037G>A (p.Glu679=) c.2010G>A (p.Glu670=) n.2149G>A | |
| X | g.50192677T>A | CA413188559 | AKAP4 | c.2036A>T (p.Glu679Val) c.2009A>T (p.Glu670Val) n.2148A>T | |
| X | g.50192677T>C | CA413188561 | AKAP4 | c.2036A>G (p.Glu679Gly) c.2009A>G (p.Glu670Gly) n.2148A>G | |
| X | g.50192677T>G | CA10414151 | AKAP4 | c.2036A>C (p.Glu679Ala) c.2009A>C (p.Glu670Ala) n.2148A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50192677T= | CA2428802806 | AKAP4 | c.2036A= (p.Glu679=) c.2009A= (p.Glu670=) n.2148A= | |
| X | g.50192678C>A | CA413188563 | AKAP4 | c.2035G>T (p.Glu679Ter) c.2008G>T (p.Glu670Ter) n.2147G>T | |
| X | g.50192678C>G | CA413188567 | AKAP4 | c.2035G>C (p.Glu679Gln) c.2008G>C (p.Glu670Gln) n.2147G>C | |
| X | g.50192678C>T | CA413188565 | AKAP4 | c.2035G>A (p.Glu679Lys) c.2008G>A (p.Glu670Lys) n.2147G>A | |
| X | g.50192679C>A | CA413188568 | AKAP4 | c.2034G>T (p.Gln678His) c.2007G>T (p.Gln669His) n.2146G>T | |
| X | g.50192679C>G | CA413188570 | AKAP4 | c.2034G>C (p.Gln678His) c.2007G>C (p.Gln669His) n.2146G>C | |
| X | g.50192679C>T | CA516679154 | AKAP4 | c.2034G>A (p.Gln678=) c.2007G>A (p.Gln669=) n.2146G>A | |
| X | g.50192680T>A | CA413188572 | AKAP4 | c.2033A>T (p.Gln678Leu) c.2006A>T (p.Gln669Leu) n.2145A>T | |
| X | g.50192680T>C | CA413188574 | AKAP4 | c.2033A>G (p.Gln678Arg) c.2006A>G (p.Gln669Arg) n.2145A>G | gnomAD v4 |
| X | g.50192680T>G | CA413188578 | AKAP4 | c.2033A>C (p.Gln678Pro) c.2006A>C (p.Gln669Pro) n.2145A>C | |
| X | g.50192681G>A | CA413188581 | AKAP4 | c.2032C>T (p.Gln678Ter) c.2005C>T (p.Gln669Ter) n.2144C>T | |
| X | g.50192681G>C | CA413188583 | AKAP4 | c.2032C>G (p.Gln678Glu) c.2005C>G (p.Gln669Glu) n.2144C>G | |
| X | g.50192681G>T | CA413188585 | AKAP4 | c.2032C>A (p.Gln678Lys) c.2005C>A (p.Gln669Lys) n.2144C>A | |
| X | g.50192682G>A | CA516679172 | AKAP4 | c.2031C>T (p.Cys677=) c.2004C>T (p.Cys668=) n.2143C>T | gnomAD v4 |
| X | g.50192682G>C | CA413188587 | AKAP4 | c.2031C>G (p.Cys677Trp) c.2004C>G (p.Cys668Trp) n.2143C>G | |
| X | g.50192682G>T | CA413188589 | AKAP4 | c.2031C>A (p.Cys677Ter) c.2004C>A (p.Cys668Ter) n.2143C>A | |
| X | g.50192683C>A | CA413188595 | AKAP4 | c.2030G>T (p.Cys677Phe) c.2003G>T (p.Cys668Phe) n.2142G>T | |
| X | g.50192683C>G | CA413188593 | AKAP4 | c.2030G>C (p.Cys677Ser) c.2003G>C (p.Cys668Ser) n.2142G>C | |
| X | g.50192683C>T | CA413188591 | AKAP4 | c.2030G>A (p.Cys677Tyr) c.2003G>A (p.Cys668Tyr) n.2142G>A | |
| X | g.50192684A>C | CA413188598 | AKAP4 | c.2029T>G (p.Cys677Gly) c.2002T>G (p.Cys668Gly) n.2141T>G | |
| X | g.50192684A>G | CA413188601 | AKAP4 | c.2029T>C (p.Cys677Arg) c.2002T>C (p.Cys668Arg) n.2141T>C | |
| X | g.50192684A>T | CA413188600 | AKAP4 | c.2029T>A (p.Cys677Ser) c.2002T>A (p.Cys668Ser) n.2141T>A | |
| X | g.50192685T>A | CA413188602 | AKAP4 | c.2028A>T (p.Gln676His) c.2001A>T (p.Gln667His) n.2140A>T | |
| X | g.50192685T>C | CA516679181 | AKAP4 | c.2028A>G (p.Gln676=) c.2001A>G (p.Gln667=) n.2140A>G | |
| X | g.50192685T>G | CA413188603 | AKAP4 | c.2028A>C (p.Gln676His) c.2001A>C (p.Gln667His) n.2140A>C | |
| X | g.50192686T>A | CA413188604 | AKAP4 | c.2027A>T (p.Gln676Leu) c.2000A>T (p.Gln667Leu) n.2139A>T | |
| X | g.50192686T>C | CA413188605 | AKAP4 | c.2027A>G (p.Gln676Arg) c.2000A>G (p.Gln667Arg) n.2139A>G | |
| X | g.50192686T>G | CA413188606 | AKAP4 | c.2027A>C (p.Gln676Pro) c.2000A>C (p.Gln667Pro) n.2139A>C | gnomAD v4 |
| X | g.50192687G>A | CA413188607 | AKAP4 | c.2026C>T (p.Gln676Ter) c.1999C>T (p.Gln667Ter) n.2138C>T | |
| X | g.50192687G>C | CA413188608 | AKAP4 | c.2026C>G (p.Gln676Glu) c.1999C>G (p.Gln667Glu) n.2138C>G | |
| X | g.50192687G>T | CA413188609 | AKAP4 | c.2026C>A (p.Gln676Lys) c.1999C>A (p.Gln667Lys) n.2138C>A | gnomAD v4 |
| X | g.50192688T>A | CA10414152 | AKAP4 | c.2025A>T (p.Glu675Asp) c.1998A>T (p.Glu666Asp) n.2137A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192688T>C | CA516679184 | AKAP4 | c.2025A>G (p.Glu675=) c.1998A>G (p.Glu666=) n.2137A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.50192688T>G | CA413188610 | AKAP4 | c.2025A>C (p.Glu675Asp) c.1998A>C (p.Glu666Asp) n.2137A>C | |
| X | g.50192688T= | CA2428802807 | AKAP4 | c.2025A= (p.Glu675=) c.1998A= (p.Glu666=) n.2137A= | |
| X | g.50192689T>A | CA413188611 | AKAP4 | c.2024A>T (p.Glu675Val) c.1997A>T (p.Glu666Val) n.2136A>T | |
| X | g.50192689T>C | CA413188612 | AKAP4 | c.2024A>G (p.Glu675Gly) c.1997A>G (p.Glu666Gly) n.2136A>G | |
| X | g.50192689T>G | CA413188613 | AKAP4 | c.2024A>C (p.Glu675Ala) c.1997A>C (p.Glu666Ala) n.2136A>C | |
| X | g.50192690C>A | CA413188616 | AKAP4 | c.2023G>T (p.Glu675Ter) c.1996G>T (p.Glu666Ter) n.2135G>T | |
| X | g.50192690C>G | CA413188615 | AKAP4 | c.2023G>C (p.Glu675Gln) c.1996G>C (p.Glu666Gln) n.2135G>C | |
| X | g.50192690C>T | CA413188614 | AKAP4 | c.2023G>A (p.Glu675Lys) c.1996G>A (p.Glu666Lys) n.2135G>A | |
| X | g.50192691T>A | CA10414153 | AKAP4 | c.2022A>T (p.Glu674Asp) c.1995A>T (p.Glu665Asp) n.2134A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192691T>C | CA516679196 | AKAP4 | c.2022A>G (p.Glu674=) c.1995A>G (p.Glu665=) n.2134A>G | |
| X | g.50192691T>G | CA413188617 | AKAP4 | c.2022A>C (p.Glu674Asp) c.1995A>C (p.Glu665Asp) n.2134A>C | gnomAD v4 |
| X | g.50192691T= | CA2428802808 | AKAP4 | c.2022A= (p.Glu674=) c.1995A= (p.Glu665=) n.2134A= | |
| X | g.50192692T>A | CA413188618 | AKAP4 | c.2021A>T (p.Glu674Val) c.1994A>T (p.Glu665Val) n.2133A>T | |
| X | g.50192692T>C | CA413188619 | AKAP4 | c.2021A>G (p.Glu674Gly) c.1994A>G (p.Glu665Gly) n.2133A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192692T>G | CA413188620 | AKAP4 | c.2021A>C (p.Glu674Ala) c.1994A>C (p.Glu665Ala) n.2133A>C | |
| X | g.50192692T= | CA2428802809 | AKAP4 | c.2021A= (p.Glu674=) c.1994A= (p.Glu665=) n.2133A= | |
| X | g.50192693C>A | CA413188621 | AKAP4 | c.2020G>T (p.Glu674Ter) c.1993G>T (p.Glu665Ter) n.2132G>T | |
| X | g.50192693C>G | CA413188622 | AKAP4 | c.2020G>C (p.Glu674Gln) c.1993G>C (p.Glu665Gln) n.2132G>C | |
| X | g.50192693C>T | CA413188623 | AKAP4 | c.2020G>A (p.Glu674Lys) c.1993G>A (p.Glu665Lys) n.2132G>A | |
| X | g.50192694C>A | CA516679203 | AKAP4 | c.2019G>T (p.Ala673=) c.1992G>T (p.Ala664=) n.2131G>T | |
| X | g.50192694C= | CA2428802810 | AKAP4 | c.2019G= (p.Ala673=) c.1992G= (p.Ala664=) n.2131G= | |
| X | g.50192694C>G | CA516679202 | AKAP4 | c.2019G>C (p.Ala673=) c.1992G>C (p.Ala664=) n.2131G>C | |
| X | g.50192694C>T | CA10414154 | AKAP4 | c.2019G>A (p.Ala673=) c.1992G>A (p.Ala664=) n.2131G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.50192695G>A | CA10414156 | AKAP4 | c.2018C>T (p.Ala673Val) c.1991C>T (p.Ala664Val) n.2130C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192695G>C | CA10414155 | AKAP4 | c.2018C>G (p.Ala673Gly) c.1991C>G (p.Ala664Gly) n.2130C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192695G= | CA2428802811 | AKAP4 | c.2018C= (p.Ala673=) c.1991C= (p.Ala664=) n.2130C= | |
| X | g.50192695G>T | CA413188624 | AKAP4 | c.2018C>A (p.Ala673Glu) c.1991C>A (p.Ala664Glu) n.2130C>A |