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.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 |