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.29534254A>C | CA398917364 | TAOK1 | c.2498A>C (p.Glu833Ala) c.2054A>C (p.Glu685Ala) | |
| 17 | g.29534254A>G | CA398917365 | TAOK1 | c.2498A>G (p.Glu833Gly) c.2054A>G (p.Glu685Gly) | |
| 17 | g.29534254A>T | CA398917366 | TAOK1 | c.2498A>T (p.Glu833Val) c.2054A>T (p.Glu685Val) | |
| 17 | g.29534255G>A | CA499152452 | TAOK1 | c.2499G>A (p.Glu833=) c.2055G>A (p.Glu685=) | |
| 17 | g.29534255G>C | CA398917367 | TAOK1 | c.2499G>C (p.Glu833Asp) c.2055G>C (p.Glu685Asp) | |
| 17 | g.29534255G>T | CA398917368 | TAOK1 | c.2499G>T (p.Glu833Asp) c.2055G>T (p.Glu685Asp) | |
| 17 | g.29534256C>A | CA398917371 | TAOK1 | c.2500C>A (p.Leu834Ile) c.2056C>A (p.Leu686Ile) | |
| 17 | g.29534256C= | CA2254807229 | TAOK1 | c.2500C= (p.Leu834=) c.2056C= (p.Leu686=) | |
| 17 | g.29534256C>G | CA398917370 | TAOK1 | c.2500C>G (p.Leu834Val) c.2056C>G (p.Leu686Val) | dbSNP |
| 17 | g.29534256C>T | CA398917369 | TAOK1 | c.2500C>T (p.Leu834Phe) c.2056C>T (p.Leu686Phe) | |
| 17 | g.29534257T>A | CA398917372 | TAOK1 | c.2501T>A (p.Leu834His) c.2057T>A (p.Leu686His) | |
| 17 | g.29534257T>C | CA398917373 | TAOK1 | c.2501T>C (p.Leu834Pro) c.2057T>C (p.Leu686Pro) | |
| 17 | g.29534257T>G | CA398917374 | TAOK1 | c.2501T>G (p.Leu834Arg) c.2057T>G (p.Leu686Arg) | |
| 17 | g.29534258T>A | CA499152456 | TAOK1 | c.2502T>A (p.Leu834=) c.2058T>A (p.Leu686=) | |
| 17 | g.29534258T>C | CA499152455 | TAOK1 | c.2502T>C (p.Leu834=) c.2058T>C (p.Leu686=) | |
| 17 | g.29534258T>G | CA499152454 | TAOK1 | c.2502T>G (p.Leu834=) c.2058T>G (p.Leu686=) | |
| 17 | g.29534259G>A | CA398917375 | TAOK1 | c.2503G>A (p.Glu835Lys) c.2059G>A (p.Glu687Lys) | |
| 17 | g.29534259G>C | CA398917376 | TAOK1 | c.2503G>C (p.Glu835Gln) c.2059G>C (p.Glu687Gln) | |
| 17 | g.29534259G>T | CA398917377 | TAOK1 | c.2503G>T (p.Glu835Ter) c.2059G>T (p.Glu687Ter) | ClinVar dbSNP |
| 17 | g.29534260A>C | CA398917378 | TAOK1 | c.2504A>C (p.Glu835Ala) c.2060A>C (p.Glu687Ala) | |
| 17 | g.29534260A>G | CA398917379 | TAOK1 | c.2504A>G (p.Glu835Gly) c.2060A>G (p.Glu687Gly) | |
| 17 | g.29534260A>T | CA398917380 | TAOK1 | c.2504A>T (p.Glu835Val) c.2060A>T (p.Glu687Val) | |
| 17 | g.29534261A= | CA2254807232 | TAOK1 | c.2505A= (p.Glu835=) c.2061A= (p.Glu687=) | |
| 17 | g.29534261A>C | CA398917381 | TAOK1 | c.2505A>C (p.Glu835Asp) c.2061A>C (p.Glu687Asp) | |
| 17 | g.29534261A>G | CA8474872 | TAOK1 | c.2505A>G (p.Glu835=) c.2061A>G (p.Glu687=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29534261A>T | CA398917382 | TAOK1 | c.2505A>T (p.Glu835Asp) c.2061A>T (p.Glu687Asp) | |
| 17 | g.29534262C>A | CA398917385 | TAOK1 | c.2506C>A (p.Gln836Lys) c.2062C>A (p.Gln688Lys) | |
| 17 | g.29534262C>G | CA398917384 | TAOK1 | c.2506C>G (p.Gln836Glu) c.2062C>G (p.Gln688Glu) | |
| 17 | g.29534262C>T | CA398917383 | TAOK1 | c.2506C>T (p.Gln836Ter) c.2062C>T (p.Gln688Ter) | |
| 17 | g.29534263A>C | CA398917386 | TAOK1 | c.2507A>C (p.Gln836Pro) c.2063A>C (p.Gln688Pro) | |
| 17 | g.29534263A>G | CA398917388 | TAOK1 | c.2507A>G (p.Gln836Arg) c.2063A>G (p.Gln688Arg) | |
| 17 | g.29534263A>T | CA398917387 | TAOK1 | c.2507A>T (p.Gln836Leu) c.2063A>T (p.Gln688Leu) | |
| 17 | g.29534264G>A | CA499152462 | TAOK1 | c.2508G>A (p.Gln836=) c.2064G>A (p.Gln688=) | |
| 17 | g.29534264G>C | CA289202119 | TAOK1 | c.2508G>C (p.Gln836His) c.2064G>C (p.Gln688His) | dbSNP |
| 17 | g.29534264G= | CA2254807235 | TAOK1 | c.2508G= (p.Gln836=) c.2064G= (p.Gln688=) | |
| 17 | g.29534264G>T | CA398917389 | TAOK1 | c.2508G>T (p.Gln836His) c.2064G>T (p.Gln688His) | |
| 17 | g.29534265A>C | CA499152464 | TAOK1 | c.2509A>C (p.Arg837=) c.2065A>C (p.Arg689=) | |
| 17 | g.29534265A>G | CA398917390 | TAOK1 | c.2509A>G (p.Arg837Gly) c.2065A>G (p.Arg689Gly) | |
| 17 | g.29534265A>T | CA398917391 | TAOK1 | c.2509A>T (p.Arg837Trp) c.2065A>T (p.Arg689Trp) | |
| 17 | g.29534266G>A | CA398917392 | TAOK1 | c.2510G>A (p.Arg837Lys) c.2066G>A (p.Arg689Lys) | gnomAD v3 gnomAD v4 |
| 17 | g.29534266G>C | CA398917393 | TAOK1 | c.2510G>C (p.Arg837Thr) c.2066G>C (p.Arg689Thr) | |
| 17 | g.29534266G>T | CA398917394 | TAOK1 | c.2510G>T (p.Arg837Met) c.2066G>T (p.Arg689Met) | |
| 17 | g.29534267G>A | CA8474873 | TAOK1 | c.2511G>A (p.Arg837=) c.2067G>A (p.Arg689=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29534267G>C | CA398917395 | TAOK1 | c.2511G>C (p.Arg837Ser) c.2067G>C (p.Arg689Ser) | |
| 17 | g.29534267G= | CA2254807238 | TAOK1 | c.2511G= (p.Arg837=) c.2067G= (p.Arg689=) | |
| 17 | g.29534267G>T | CA398917396 | TAOK1 | c.2511G>T (p.Arg837Ser) c.2067G>T (p.Arg689Ser) | |
| 17 | g.29534268G>A | CA398917397 | TAOK1 | c.2512G>A (p.Val838Ile) c.2068G>A (p.Val690Ile) | |
| 17 | g.29534268G>C | CA398917398 | TAOK1 | c.2512G>C (p.Val838Leu) c.2068G>C (p.Val690Leu) | |
| 17 | g.29534268G>T | CA398917399 | TAOK1 | c.2512G>T (p.Val838Phe) c.2068G>T (p.Val690Phe) | gnomAD v4 |
| 17 | g.29534268_29534271dup | CA8474874 | TAOK1 | c.2512_2515dup (p.Ser839CysfsTer13) c.2068_2071dup (p.Ser691CysfsTer13) | dbSNP ExAC gnomAD v2 gnomAD v4 |