| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.29534244G>A | CA398917345 | TAOK1 | c.2488G>A (p.Glu830Lys) c.2044G>A (p.Glu682Lys) | |
| 17 | g.29534244G>C | CA398917344 | TAOK1 | c.2488G>C (p.Glu830Gln) c.2044G>C (p.Glu682Gln) | |
| 17 | g.29534244G>T | CA398917343 | TAOK1 | c.2488G>T (p.Glu830Ter) c.2044G>T (p.Glu682Ter) | ClinVar dbSNP |
| 17 | g.29534245A>C | CA398917346 | TAOK1 | c.2489A>C (p.Glu830Ala) c.2045A>C (p.Glu682Ala) | |
| 17 | g.29534245A>G | CA398917347 | TAOK1 | c.2489A>G (p.Glu830Gly) c.2045A>G (p.Glu682Gly) | |
| 17 | g.29534245A>T | CA398917348 | TAOK1 | c.2489A>T (p.Glu830Val) c.2045A>T (p.Glu682Val) | |
| 17 | g.29534246G>A | CA8474868 | TAOK1 | c.2490G>A (p.Glu830=) c.2046G>A (p.Glu682=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29534246G>C | CA398917349 | TAOK1 | c.2490G>C (p.Glu830Asp) c.2046G>C (p.Glu682Asp) | |
| 17 | g.29534246G= | CA2254807210 | TAOK1 | c.2490G= (p.Glu830=) c.2046G= (p.Glu682=) | |
| 17 | g.29534246G>T | CA398917350 | TAOK1 | c.2490G>T (p.Glu830Asp) c.2046G>T (p.Glu682Asp) | |
| 17 | g.29534247C>A | CA398917351 | TAOK1 | c.2491C>A (p.Leu831Ile) c.2047C>A (p.Leu683Ile) | |
| 17 | g.29534247C>G | CA398917352 | TAOK1 | c.2491C>G (p.Leu831Val) c.2047C>G (p.Leu683Val) | |
| 17 | g.29534247C>T | CA398917353 | TAOK1 | c.2491C>T (p.Leu831Phe) c.2047C>T (p.Leu683Phe) | |
| 17 | g.29534248T>A | CA398917354 | TAOK1 | c.2492T>A (p.Leu831His) c.2048T>A (p.Leu683His) | |
| 17 | g.29534248T>C | CA398917355 | TAOK1 | c.2492T>C (p.Leu831Pro) c.2048T>C (p.Leu683Pro) | |
| 17 | g.29534248T>G | CA398917356 | TAOK1 | c.2492T>G (p.Leu831Arg) c.2048T>G (p.Leu683Arg) | |
| 17 | g.29534249T>A | CA499152442 | TAOK1 | c.2493T>A (p.Leu831=) c.2049T>A (p.Leu683=) | |
| 17 | g.29534249T>C | CA499152443 | TAOK1 | c.2493T>C (p.Leu831=) c.2049T>C (p.Leu683=) | |
| 17 | g.29534249T>G | CA499152444 | TAOK1 | c.2493T>G (p.Leu831=) c.2049T>G (p.Leu683=) | |
| 17 | g.29534250C>A | CA398917358 | TAOK1 | c.2494C>A (p.Arg832Ser) c.2050C>A (p.Arg684Ser) | |
| 17 | g.29534250C= | CA2254807213 | TAOK1 | c.2494C= (p.Arg832=) c.2050C= (p.Arg684=) | |
| 17 | g.29534250C>G | CA398917357 | TAOK1 | c.2494C>G (p.Arg832Gly) c.2050C>G (p.Arg684Gly) | gnomAD v4 |
| 17 | g.29534250C>T | CA8474869 | TAOK1 | c.2494C>T (p.Arg832Cys) c.2050C>T (p.Arg684Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29534251G>A | CA8474870 | TAOK1 | c.2495G>A (p.Arg832His) c.2051G>A (p.Arg684His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.29534251G>C | CA398917359 | TAOK1 | c.2495G>C (p.Arg832Pro) c.2051G>C (p.Arg684Pro) | |
| 17 | g.29534251G= | CA2254807216 | TAOK1 | c.2495G= (p.Arg832=) c.2051G= (p.Arg684=) | |
| 17 | g.29534251G>T | CA398917360 | TAOK1 | c.2495G>T (p.Arg832Leu) c.2051G>T (p.Arg684Leu) | |
| 17 | g.29534252C>A | CA499152449 | TAOK1 | c.2496C>A (p.Arg832=) c.2052C>A (p.Arg684=) | |
| 17 | g.29534252C= | CA2254807221 | TAOK1 | c.2496C= (p.Arg832=) c.2052C= (p.Arg684=) | |
| 17 | g.29534252C>G | CA499152450 | TAOK1 | c.2496C>G (p.Arg832=) c.2052C>G (p.Arg684=) | |
| 17 | g.29534252C>T | CA8474871 | TAOK1 | c.2496C>T (p.Arg832=) c.2052C>T (p.Arg684=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29534253G>A | CA398917361 | TAOK1 | c.2497G>A (p.Glu833Lys) c.2053G>A (p.Glu685Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.29534253G>C | CA398917362 | TAOK1 | c.2497G>C (p.Glu833Gln) c.2053G>C (p.Glu685Gln) | |
| 17 | g.29534253G= | CA2254807226 | TAOK1 | c.2497G= (p.Glu833=) c.2053G= (p.Glu685=) | |
| 17 | g.29534253G>T | CA398917363 | TAOK1 | c.2497G>T (p.Glu833Ter) c.2053G>T (p.Glu685Ter) | |
| 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=) |