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.29530504C>A | CA398914931 | TAOK1 | c.2246C>A (p.Pro749Gln) c.1802C>A (p.Pro601Gln) n.330C>A | |
| 17 | g.29530504C= | CA2254806464 | TAOK1 | c.2246C= (p.Pro749=) c.1802C= (p.Pro601=) n.330C= | |
| 17 | g.29530504C>G | CA398914932 | TAOK1 | c.2246C>G (p.Pro749Arg) c.1802C>G (p.Pro601Arg) n.330C>G | dbSNP |
| 17 | g.29530504C>T | CA398914935 | TAOK1 | c.2246C>T (p.Pro749Leu) c.1802C>T (p.Pro601Leu) n.330C>T | |
| 17 | g.29530505A= | CA2254806465 | TAOK1 | c.2247A= (p.Pro749=) c.1803A= (p.Pro601=) n.331A= | |
| 17 | g.29530505A>C | CA499151697 | TAOK1 | c.2247A>C (p.Pro749=) c.1803A>C (p.Pro601=) n.331A>C | |
| 17 | g.29530505A>G | CA499151698 | TAOK1 | c.2247A>G (p.Pro749=) c.1803A>G (p.Pro601=) n.331A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.29530505A>T | CA499151696 | TAOK1 | c.2247A>T (p.Pro749=) c.1803A>T (p.Pro601=) n.331A>T | |
| 17 | g.29530506A>C | CA398914938 | TAOK1 | c.2248A>C (p.Lys750Gln) c.1804A>C (p.Lys602Gln) n.332A>C | |
| 17 | g.29530506A>G | CA398914939 | TAOK1 | c.2248A>G (p.Lys750Glu) c.1804A>G (p.Lys602Glu) n.332A>G | |
| 17 | g.29530506A>T | CA398914941 | TAOK1 | c.2248A>T (p.Lys750Ter) c.1804A>T (p.Lys602Ter) n.332A>T | |
| 17 | g.29530507A>C | CA398914947 | TAOK1 | c.2249A>C (p.Lys750Thr) c.1805A>C (p.Lys602Thr) n.333A>C | |
| 17 | g.29530507A>G | CA398914943 | TAOK1 | c.2249A>G (p.Lys750Arg) c.1805A>G (p.Lys602Arg) n.333A>G | |
| 17 | g.29530507A>T | CA398914945 | TAOK1 | c.2249A>T (p.Lys750Met) c.1805A>T (p.Lys602Met) n.333A>T | |
| 17 | g.29530508G>A | CA499151699 | TAOK1 | c.2250G>A (p.Lys750=) c.1806G>A (p.Lys602=) n.334G>A | |
| 17 | g.29530508G>C | CA398914949 | TAOK1 | c.2250G>C (p.Lys750Asn) c.1806G>C (p.Lys602Asn) n.334G>C | |
| 17 | g.29530508G>T | CA398914951 | TAOK1 | c.2250G>T (p.Lys750Asn) c.1806G>T (p.Lys602Asn) n.334G>T | |
| 17 | g.29530511_29530514del | CA2573054361 | TAOK1 | c.2253_2256del (p.Glu752ThrfsTer5) c.1809_1812del (p.Glu604ThrfsTer5) n.337_340del | ClinVar dbSNP |
| 17 | g.29530509A>C | CA398914954 | TAOK1 | c.2251A>C (p.Ser751Arg) c.1807A>C (p.Ser603Arg) n.335A>C | |
| 17 | g.29530509A>G | CA398914956 | TAOK1 | c.2251A>G (p.Ser751Gly) c.1807A>G (p.Ser603Gly) n.335A>G | |
| 17 | g.29530509A>T | CA398914958 | TAOK1 | c.2251A>T (p.Ser751Cys) c.1807A>T (p.Ser603Cys) n.335A>T | |
| 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 |