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 |
|---|---|---|---|---|---|
| 17 | g.29530604G>A | CA398915297 | TAOK1 | c.2346G>A (p.Met782Ile) c.1902G>A (p.Met634Ile) n.430G>A | |
| 17 | g.29530604G>C | CA398915296 | TAOK1 | c.2346G>C (p.Met782Ile) c.1902G>C (p.Met634Ile) n.430G>C | |
| 17 | g.29530604G>T | CA398915298 | TAOK1 | c.2346G>T (p.Met782Ile) c.1902G>T (p.Met634Ile) n.430G>T | |
| 17 | g.29530605C>A | CA398915299 | TAOK1 | c.2347C>A (p.Leu783Ile) c.1903C>A (p.Leu635Ile) n.431C>A | |
| 17 | g.29530605C>G | CA398915301 | TAOK1 | c.2347C>G (p.Leu783Val) c.1903C>G (p.Leu635Val) n.431C>G | |
| 17 | g.29530605C>T | CA398915300 | TAOK1 | c.2347C>T (p.Leu783Phe) c.1903C>T (p.Leu635Phe) n.431C>T | |
| 17 | g.29530606T>A | CA398915302 | TAOK1 | c.2348T>A (p.Leu783His) c.1904T>A (p.Leu635His) n.432T>A | |
| 17 | g.29530606T>C | CA398915303 | TAOK1 | c.2348T>C (p.Leu783Pro) c.1904T>C (p.Leu635Pro) n.432T>C | |
| 17 | g.29530606T>G | CA398915304 | TAOK1 | c.2348T>G (p.Leu783Arg) c.1904T>G (p.Leu635Arg) n.432T>G | |
| 17 | g.29530607C>A | CA499151753 | TAOK1 | c.2349C>A (p.Leu783=) c.1905C>A (p.Leu635=) n.433C>A | |
| 17 | g.29530607C>G | CA499151754 | TAOK1 | c.2349C>G (p.Leu783=) c.1905C>G (p.Leu635=) n.433C>G | |
| 17 | g.29530607C>T | CA499151755 | TAOK1 | c.2349C>T (p.Leu783=) c.1905C>T (p.Leu635=) n.433C>T | |
| 17 | g.29530608T>A | CA398915305 | TAOK1 | c.2350T>A (p.Ser784Thr) c.1906T>A (p.Ser636Thr) n.434T>A | |
| 17 | g.29530608T>C | CA398915306 | TAOK1 | c.2350T>C (p.Ser784Pro) c.1906T>C (p.Ser636Pro) n.434T>C | |
| 17 | g.29530608T>G | CA398915307 | TAOK1 | c.2350T>G (p.Ser784Ala) c.1906T>G (p.Ser636Ala) n.434T>G | |
| 17 | g.29530609C>A | CA398915308 | TAOK1 | c.2351C>A (p.Ser784Tyr) c.1907C>A (p.Ser636Tyr) n.435C>A | |
| 17 | g.29530609C>G | CA398915309 | TAOK1 | c.2351C>G (p.Ser784Cys) c.1907C>G (p.Ser636Cys) n.435C>G | |
| 17 | g.29530609C>T | CA398915310 | TAOK1 | c.2351C>T (p.Ser784Phe) c.1907C>T (p.Ser636Phe) n.435C>T | |
| 17 | g.29530610C>A | CA499151757 | TAOK1 | c.2352C>A (p.Ser784=) c.1908C>A (p.Ser636=) n.436C>A | |
| 17 | g.29530610C>G | CA499151758 | TAOK1 | c.2352C>G (p.Ser784=) c.1908C>G (p.Ser636=) n.436C>G | |
| 17 | g.29530610C>T | CA499151756 | TAOK1 | c.2352C>T (p.Ser784=) c.1908C>T (p.Ser636=) n.436C>T | |
| 17 | g.29530611A>C | CA398915311 | TAOK1 | c.2353A>C (p.Thr785Pro) c.1909A>C (p.Thr637Pro) n.437A>C | |
| 17 | g.29530611A>G | CA398915312 | TAOK1 | c.2353A>G (p.Thr785Ala) c.1909A>G (p.Thr637Ala) n.437A>G | |
| 17 | g.29530611A>T | CA398915313 | TAOK1 | c.2353A>T (p.Thr785Ser) c.1909A>T (p.Thr637Ser) n.437A>T | |
| 17 | g.29530612C>A | CA398915316 | TAOK1 | c.2354C>A (p.Thr785Lys) c.1910C>A (p.Thr637Lys) n.438C>A | |
| 17 | g.29530612C>G | CA398915314 | TAOK1 | c.2354C>G (p.Thr785Arg) c.1910C>G (p.Thr637Arg) n.438C>G | |
| 17 | g.29530612C>T | CA398915315 | TAOK1 | c.2354C>T (p.Thr785Ile) c.1910C>T (p.Thr637Ile) n.438C>T | |
| 17 | g.29530613A= | CA2254806502 | TAOK1 | c.2355A= (p.Thr785=) c.1911A= (p.Thr637=) n.439A= | |
| 17 | g.29530613A>C | CA499151759 | TAOK1 | c.2355A>C (p.Thr785=) c.1911A>C (p.Thr637=) n.439A>C | |
| 17 | g.29530613A>G | CA499151760 | TAOK1 | c.2355A>G (p.Thr785=) c.1911A>G (p.Thr637=) n.439A>G | dbSNP gnomAD v4 |
| 17 | g.29530613A>T | CA499151761 | TAOK1 | c.2355A>T (p.Thr785=) c.1911A>T (p.Thr637=) n.439A>T | |
| 17 | g.29530614C>A | CA8474819 | TAOK1 | c.2356C>A (p.Gln786Lys) c.1912C>A (p.Gln638Lys) n.440C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.29530614C= | CA2254806505 | TAOK1 | c.2356C= (p.Gln786=) c.1912C= (p.Gln638=) n.440C= | |
| 17 | g.29530614C>G | CA398915317 | TAOK1 | c.2356C>G (p.Gln786Glu) c.1912C>G (p.Gln638Glu) n.440C>G | |
| 17 | g.29530614C>T | CA398915318 | TAOK1 | c.2356C>T (p.Gln786Ter) c.1912C>T (p.Gln638Ter) n.440C>T | |
| 17 | g.29530615A>C | CA398915319 | TAOK1 | c.2357A>C (p.Gln786Pro) c.1913A>C (p.Gln638Pro) n.441A>C | |
| 17 | g.29530615A>G | CA398915320 | TAOK1 | c.2357A>G (p.Gln786Arg) c.1913A>G (p.Gln638Arg) n.441A>G | |
| 17 | g.29530615A>T | CA398915321 | TAOK1 | c.2357A>T (p.Gln786Leu) c.1913A>T (p.Gln638Leu) n.441A>T | |
| 17 | g.29530616A>C | CA398915322 | TAOK1 | c.2358A>C (p.Gln786His) c.1914A>C (p.Gln638His) n.442A>C | |
| 17 | g.29530616A>G | CA499151762 | TAOK1 | c.2358A>G (p.Gln786=) c.1914A>G (p.Gln638=) n.442A>G | gnomAD v4 |
| 17 | g.29530616A>T | CA398915323 | TAOK1 | c.2358A>T (p.Gln786His) c.1914A>T (p.Gln638His) n.442A>T | |
| 17 | g.29530617G>A | CA398915324 | TAOK1 | c.2359G>A (p.Ala787Thr) c.1915G>A (p.Ala639Thr) n.443G>A | |
| 17 | g.29530617G>C | CA398915325 | TAOK1 | c.2359G>C (p.Ala787Pro) c.1915G>C (p.Ala639Pro) n.443G>C | |
| 17 | g.29530617G>T | CA398915326 | TAOK1 | c.2359G>T (p.Ala787Ser) c.1915G>T (p.Ala639Ser) n.443G>T | |
| 17 | g.29530618C>A | CA398915329 | TAOK1 | c.2360C>A (p.Ala787Asp) c.1916C>A (p.Ala639Asp) n.444C>A | |
| 17 | g.29530618C>G | CA398915328 | TAOK1 | c.2360C>G (p.Ala787Gly) c.1916C>G (p.Ala639Gly) n.444C>G | |
| 17 | g.29530618C>T | CA398915327 | TAOK1 | c.2360C>T (p.Ala787Val) c.1916C>T (p.Ala639Val) n.444C>T | |
| 17 | g.29530619C>A | CA499151763 | TAOK1 | c.2361C>A (p.Ala787=) c.1917C>A (p.Ala639=) n.445C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29530619C= | CA2254806508 | TAOK1 | c.2361C= (p.Ala787=) c.1917C= (p.Ala639=) n.445C= | |
| 17 | g.29530619C>G | CA8474820 | TAOK1 | c.2361C>G (p.Ala787=) c.1917C>G (p.Ala639=) n.445C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |