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.29530511_29530514del | CA2573054361 | TAOK1 | c.2253_2256del (p.Glu752ThrfsTer5) c.1809_1812del (p.Glu604ThrfsTer5) n.337_340del | ClinVar dbSNP |
| 17 | g.29530510G>A | CA398914960 | TAOK1 | c.2252G>A (p.Ser751Asn) c.1808G>A (p.Ser603Asn) n.336G>A | |
| 17 | g.29530510G>C | CA398914962 | TAOK1 | c.2252G>C (p.Ser751Thr) c.1808G>C (p.Ser603Thr) n.336G>C | |
| 17 | g.29530510G>T | CA398914964 | TAOK1 | c.2252G>T (p.Ser751Ile) c.1808G>T (p.Ser603Ile) n.336G>T | |
| 17 | g.29530511T>A | CA398914966 | TAOK1 | c.2253T>A (p.Ser751Arg) c.1809T>A (p.Ser603Arg) n.337T>A | |
| 17 | g.29530511T>C | CA499151700 | TAOK1 | c.2253T>C (p.Ser751=) c.1809T>C (p.Ser603=) n.337T>C | |
| 17 | g.29530511T>G | CA398914968 | TAOK1 | c.2253T>G (p.Ser751Arg) c.1809T>G (p.Ser603Arg) n.337T>G | |
| 17 | g.29530512G>A | CA398914970 | TAOK1 | c.2254G>A (p.Glu752Lys) c.1810G>A (p.Glu604Lys) n.338G>A | |
| 17 | g.29530512G>C | CA398914972 | TAOK1 | c.2254G>C (p.Glu752Gln) c.1810G>C (p.Glu604Gln) n.338G>C | |
| 17 | g.29530512G>T | CA398914973 | TAOK1 | c.2254G>T (p.Glu752Ter) c.1810G>T (p.Glu604Ter) n.338G>T | |
| 17 | g.29530513A>C | CA398914975 | TAOK1 | c.2255A>C (p.Glu752Ala) c.1811A>C (p.Glu604Ala) n.339A>C | |
| 17 | g.29530513A>G | CA398914980 | TAOK1 | c.2255A>G (p.Glu752Gly) c.1811A>G (p.Glu604Gly) n.339A>G | |
| 17 | g.29530513A>T | CA398914977 | TAOK1 | c.2255A>T (p.Glu752Val) c.1811A>T (p.Glu604Val) n.339A>T | |
| 17 | g.29530514G>A | CA499151701 | TAOK1 | c.2256G>A (p.Glu752=) c.1812G>A (p.Glu604=) n.340G>A | |
| 17 | g.29530514G>C | CA398914981 | TAOK1 | c.2256G>C (p.Glu752Asp) c.1812G>C (p.Glu604Asp) n.340G>C | |
| 17 | g.29530514G>T | CA398914983 | TAOK1 | c.2256G>T (p.Glu752Asp) c.1812G>T (p.Glu604Asp) n.340G>T | |
| 17 | g.29530515C>A | CA398914984 | TAOK1 | c.2257C>A (p.His753Asn) c.1813C>A (p.His605Asn) n.341C>A | |
| 17 | g.29530515C>G | CA398914985 | TAOK1 | c.2257C>G (p.His753Asp) c.1813C>G (p.His605Asp) n.341C>G | |
| 17 | g.29530515C>T | CA398914987 | TAOK1 | c.2257C>T (p.His753Tyr) c.1813C>T (p.His605Tyr) n.341C>T | COSMIC |
| 17 | g.29530516del | CA2636955297 | TAOK1 | c.2258del (p.His753ProfsTer5) c.1814del (p.His605ProfsTer5) n.342del | gnomAD v4 |
| 17 | g.29530516A>C | CA398914990 | TAOK1 | c.2258A>C (p.His753Pro) c.1814A>C (p.His605Pro) n.342A>C | |
| 17 | g.29530516A>G | CA398914992 | TAOK1 | c.2258A>G (p.His753Arg) c.1814A>G (p.His605Arg) n.342A>G | |
| 17 | g.29530516A>T | CA398914994 | TAOK1 | c.2258A>T (p.His753Leu) c.1814A>T (p.His605Leu) n.342A>T | |
| 17 | g.29530517C>A | CA398914995 | TAOK1 | c.2259C>A (p.His753Gln) c.1815C>A (p.His605Gln) n.343C>A | |
| 17 | g.29530517C>G | CA398914997 | TAOK1 | c.2259C>G (p.His753Gln) c.1815C>G (p.His605Gln) n.343C>G | |
| 17 | g.29530517C>T | CA499151702 | TAOK1 | c.2259C>T (p.His753=) c.1815C>T (p.His605=) n.343C>T | gnomAD v4 |
| 17 | g.29530518A= | CA2254806466 | TAOK1 | c.2260A= (p.Lys754=) c.1816A= (p.Lys606=) n.344A= | |
| 17 | g.29530518A>C | CA398914999 | TAOK1 | c.2260A>C (p.Lys754Gln) c.1816A>C (p.Lys606Gln) n.344A>C | |
| 17 | g.29530518A>G | CA398915001 | TAOK1 | c.2260A>G (p.Lys754Glu) c.1816A>G (p.Lys606Glu) n.344A>G | ClinVar dbSNP |
| 17 | g.29530518A>T | CA398915003 | TAOK1 | c.2260A>T (p.Lys754Ter) c.1816A>T (p.Lys606Ter) n.344A>T | |
| 17 | g.29530519A= | CA2254806467 | TAOK1 | c.2261A= (p.Lys754=) c.1817A= (p.Lys606=) n.345A= | |
| 17 | g.29530519A>C | CA398915008 | TAOK1 | c.2261A>C (p.Lys754Thr) c.1817A>C (p.Lys606Thr) n.345A>C | |
| 17 | g.29530519A>G | CA398915006 | TAOK1 | c.2261A>G (p.Lys754Arg) c.1817A>G (p.Lys606Arg) n.345A>G | dbSNP gnomAD v4 |
| 17 | g.29530519A>T | CA398915007 | TAOK1 | c.2261A>T (p.Lys754Ile) c.1817A>T (p.Lys606Ile) n.345A>T | |
| 17 | g.29530520A>C | CA398915010 | TAOK1 | c.2262A>C (p.Lys754Asn) c.1818A>C (p.Lys606Asn) n.346A>C | |
| 17 | g.29530520A>G | CA499151703 | TAOK1 | c.2262A>G (p.Lys754=) c.1818A>G (p.Lys606=) n.346A>G | |
| 17 | g.29530520A>T | CA398915012 | TAOK1 | c.2262A>T (p.Lys754Asn) c.1818A>T (p.Lys606Asn) n.346A>T | |
| 17 | g.29530521G>A | CA398915015 | TAOK1 | c.2263G>A (p.Ala755Thr) c.1819G>A (p.Ala607Thr) n.347G>A | |
| 17 | g.29530521G>C | CA398915016 | TAOK1 | c.2263G>C (p.Ala755Pro) c.1819G>C (p.Ala607Pro) n.347G>C | |
| 17 | g.29530521G>T | CA398915018 | TAOK1 | c.2263G>T (p.Ala755Ser) c.1819G>T (p.Ala607Ser) n.347G>T | |
| 17 | g.29530522C>A | CA398915021 | TAOK1 | c.2264C>A (p.Ala755Asp) c.1820C>A (p.Ala607Asp) n.348C>A | |
| 17 | g.29530522C>G | CA398915022 | TAOK1 | c.2264C>G (p.Ala755Gly) c.1820C>G (p.Ala607Gly) n.348C>G | |
| 17 | g.29530522C>T | CA398915024 | TAOK1 | c.2264C>T (p.Ala755Val) c.1820C>T (p.Ala607Val) n.348C>T | |
| 17 | g.29530523T>A | CA499151704 | TAOK1 | c.2265T>A (p.Ala755=) c.1821T>A (p.Ala607=) n.349T>A | |
| 17 | g.29530523T>C | CA499151705 | TAOK1 | c.2265T>C (p.Ala755=) c.1821T>C (p.Ala607=) n.349T>C | |
| 17 | g.29530523T>G | CA499151706 | TAOK1 | c.2265T>G (p.Ala755=) c.1821T>G (p.Ala607=) n.349T>G | |
| 17 | g.29530524G>A | CA398915026 | TAOK1 | c.2266G>A (p.Val756Ile) c.1822G>A (p.Val608Ile) n.350G>A | gnomAD v4 |
| 17 | g.29530524G>C | CA398915027 | TAOK1 | c.2266G>C (p.Val756Leu) c.1822G>C (p.Val608Leu) n.350G>C | gnomAD v4 |
| 17 | g.29530524G>T | CA398915030 | TAOK1 | c.2266G>T (p.Val756Phe) c.1822G>T (p.Val608Phe) n.350G>T | |
| 17 | g.29530525T>A | CA398915036 | TAOK1 | c.2267T>A (p.Val756Asp) c.1823T>A (p.Val608Asp) n.351T>A |