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 |
|---|---|---|---|---|---|
| X | g.72667374C>A | CA413594399 | PHKA1 | c.717+1G>T (n.717+1G>T) n.860+1G>T | |
| X | g.72667374C>G | CA413594400 | PHKA1 | c.717+1G>C (n.717+1G>C) n.860+1G>C | |
| X | g.72667374C>T | CA413594401 | PHKA1 | c.717+1G>A (n.717+1G>A) n.860+1G>A | |
| X | g.72667375C>A | CA413594402 | PHKA1 | c.717G>T (p.Gln239His) n.860G>T | |
| X | g.72667375C>G | CA413594403 | PHKA1 | c.717G>C (p.Gln239His) n.860G>C | |
| X | g.72667375C>T | CA516753792 | PHKA1 | c.717G>A (p.Gln239=) n.860G>A | |
| X | g.72667376T>A | CA413594404 | PHKA1 | c.716A>T (p.Gln239Leu) n.859A>T | |
| X | g.72667376T>C | CA413594405 | PHKA1 | c.716A>G (p.Gln239Arg) n.859A>G | |
| X | g.72667376T>G | CA413594406 | PHKA1 | c.716A>C (p.Gln239Pro) n.859A>C | |
| X | g.72667377G>A | CA413594407 | PHKA1 | c.715C>T (p.Gln239Ter) n.858C>T | |
| X | g.72667377G>C | CA413594408 | PHKA1 | c.715C>G (p.Gln239Glu) n.858C>G | |
| X | g.72667377G>T | CA413594409 | PHKA1 | c.715C>A (p.Gln239Lys) n.858C>A | gnomAD v4 |
| X | g.72667378del | CA2694091619 | PHKA1 | c.715del (p.Gln239SerfsTer4) n.858del | gnomAD v4 |
| X | g.72667378G>A | CA516753793 | PHKA1 | c.714C>T (p.Cys238=) n.857C>T | |
| X | g.72667378G>C | CA413594411 | PHKA1 | c.714C>G (p.Cys238Trp) n.857C>G | |
| X | g.72667378G>T | CA413594410 | PHKA1 | c.714C>A (p.Cys238Ter) n.857C>A | gnomAD v4 |
| X | g.72667379del | CA2579646304 | PHKA1 | c.713del (p.Cys238SerfsTer5) n.856del | |
| X | g.72667379C>A | CA413594412 | PHKA1 | c.713G>T (p.Cys238Phe) n.856G>T | |
| X | g.72667379C>G | CA413594413 | PHKA1 | c.713G>C (p.Cys238Ser) n.856G>C | |
| X | g.72667379C>T | CA413594414 | PHKA1 | c.713G>A (p.Cys238Tyr) n.856G>A | |
| X | g.72667380A>C | CA413594415 | PHKA1 | c.712T>G (p.Cys238Gly) n.855T>G | |
| X | g.72667380A>G | CA413594416 | PHKA1 | c.712T>C (p.Cys238Arg) n.855T>C | |
| X | g.72667380A>T | CA413594417 | PHKA1 | c.712T>A (p.Cys238Ser) n.855T>A | |
| X | g.72667381G>A | CA516753794 | PHKA1 | c.711C>T (p.His237=) n.854C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.72667381G>C | CA331072338 | PHKA1 | c.711C>G (p.His237Gln) n.854C>G | ClinVar dbSNP gnomAD v4 |
| X | g.72667381G= | CA2436843969 | PHKA1 | c.711C= (p.His237=) n.854C= | |
| X | g.72667381G>T | CA413594418 | PHKA1 | c.711C>A (p.His237Gln) n.854C>A | gnomAD v4 |
| X | g.72667382T>A | CA413594419 | PHKA1 | c.710A>T (p.His237Leu) n.853A>T | |
| X | g.72667382T>C | CA413594420 | PHKA1 | c.710A>G (p.His237Arg) n.853A>G | |
| X | g.72667382T>G | CA413594421 | PHKA1 | c.710A>C (p.His237Pro) n.853A>C | |
| X | g.72667383G>A | CA413594422 | PHKA1 | c.709C>T (p.His237Tyr) n.852C>T | |
| X | g.72667383G>C | CA413594423 | PHKA1 | c.709C>G (p.His237Asp) n.852C>G | |
| X | g.72667383G>T | CA413594424 | PHKA1 | c.709C>A (p.His237Asn) n.852C>A | gnomAD v4 |
| X | g.72667384C>A | CA413594426 | PHKA1 | c.708G>T (p.Gln236His) n.851G>T | |
| X | g.72667384C>G | CA413594425 | PHKA1 | c.708G>C (p.Gln236His) n.851G>C | |
| X | g.72667384C>T | CA516753795 | PHKA1 | c.708G>A (p.Gln236=) n.851G>A | gnomAD v4 |
| X | g.72667385T>A | CA413594427 | PHKA1 | c.707A>T (p.Gln236Leu) n.850A>T | gnomAD v4 |
| X | g.72667385T>C | CA413594428 | PHKA1 | c.707A>G (p.Gln236Arg) n.850A>G | gnomAD v4 |
| X | g.72667385T>G | CA413594429 | PHKA1 | c.707A>C (p.Gln236Pro) n.850A>C | |
| X | g.72667386G>A | CA413594430 | PHKA1 | c.706C>T (p.Gln236Ter) n.849C>T | gnomAD v4 |
| X | g.72667386G>C | CA413594431 | PHKA1 | c.706C>G (p.Gln236Glu) n.849C>G | dbSNP |
| X | g.72667386G= | CA2436843970 | PHKA1 | c.706C= (p.Gln236=) n.849C= | |
| X | g.72667386G>T | CA413594432 | PHKA1 | c.706C>A (p.Gln236Lys) n.849C>A | gnomAD v4 |
| X | g.72667387T>A | CA516753796 | PHKA1 | c.705A>T (p.Val235=) n.848A>T | |
| X | g.72667387T>C | CA516753797 | PHKA1 | c.705A>G (p.Val235=) n.848A>G | |
| X | g.72667387T>G | CA516753798 | PHKA1 | c.705A>C (p.Val235=) n.848A>C | |
| X | g.72667388A>C | CA413594435 | PHKA1 | c.704T>G (p.Val235Gly) n.847T>G | |
| X | g.72667388A>G | CA413594433 | PHKA1 | c.704T>C (p.Val235Ala) n.847T>C | |
| X | g.72667388A>T | CA413594434 | PHKA1 | c.704T>A (p.Val235Glu) n.847T>A | |
| X | g.72667389C>A | CA413594436 | PHKA1 | c.703G>T (p.Val235Leu) n.846G>T | |
| X | g.72667389C>G | CA413594437 | PHKA1 | c.703G>C (p.Val235Leu) n.846G>C | |
| X | g.72667389C>T | CA413594438 | PHKA1 | c.703G>A (p.Val235Ile) n.846G>A | COSMIC COSMIC |
| X | g.72667390T>A | CA413594439 | PHKA1 | c.702A>T (p.Glu234Asp) n.845A>T | |
| X | g.72667390T>C | CA516753799 | PHKA1 | c.702A>G (p.Glu234=) n.845A>G | |
| X | g.72667390T>G | CA413594440 | PHKA1 | c.702A>C (p.Glu234Asp) n.845A>C | |
| X | g.72667391T>A | CA413594443 | PHKA1 | c.701A>T (p.Glu234Val) n.844A>T | |
| X | g.72667391T>C | CA413594441 | PHKA1 | c.701A>G (p.Glu234Gly) n.844A>G | |
| X | g.72667391T>G | CA413594442 | PHKA1 | c.701A>C (p.Glu234Ala) n.844A>C | |
| X | g.72667392C>A | CA413594444 | PHKA1 | c.700G>T (p.Glu234Ter) n.843G>T | |
| X | g.72667392C>G | CA413594445 | PHKA1 | c.700G>C (p.Glu234Gln) n.843G>C | |
| X | g.72667392C>T | CA413594446 | PHKA1 | c.700G>A (p.Glu234Lys) n.843G>A | |
| X | g.72667393A>C | CA413594447 | PHKA1 | c.699T>G (p.Asp233Glu) n.842T>G | |
| X | g.72667393A>G | CA516753800 | PHKA1 | c.699T>C (p.Asp233=) n.842T>C | |
| X | g.72667393A>T | CA413594448 | PHKA1 | c.699T>A (p.Asp233Glu) n.842T>A | |
| X | g.72667394T>A | CA413594451 | PHKA1 | c.698A>T (p.Asp233Val) n.841A>T | |
| X | g.72667394T>C | CA413594450 | PHKA1 | c.698A>G (p.Asp233Gly) n.841A>G | |
| X | g.72667394T>G | CA413594449 | PHKA1 | c.698A>C (p.Asp233Ala) n.841A>C | |
| X | g.72667395C>A | CA413594452 | PHKA1 | c.697G>T (p.Asp233Tyr) n.840G>T | |
| X | g.72667395C>G | CA413594453 | PHKA1 | c.697G>C (p.Asp233His) n.840G>C | |
| X | g.72667395C>T | CA413594454 | PHKA1 | c.697G>A (p.Asp233Asn) n.840G>A | |
| X | g.72667396A>C | CA516753801 | PHKA1 | c.696T>G (p.Ala232=) n.839T>G | |
| X | g.72667396A>G | CA516753803 | PHKA1 | c.696T>C (p.Ala232=) n.839T>C | |
| X | g.72667396A>T | CA516753802 | PHKA1 | c.696T>A (p.Ala232=) n.839T>A | |
| X | g.72667396_72667397delinsAG | CA2436843971 | PHKA1 | c.695_696delinsCT (p.Ala232=) n.838_839delinsCT | |
| X | g.72667397del | CA913184774 | PHKA1 | c.695del (p.Ala232ValfsTer11) n.838del | ClinVar dbSNP gnomAD v4 |
| X | g.72667397G>A | CA413594455 | PHKA1 | c.695C>T (p.Ala232Val) n.838C>T | dbSNP |
| X | g.72667397G>C | CA413594456 | PHKA1 | c.695C>G (p.Ala232Gly) n.838C>G | |
| X | g.72667397G= | CA2436843972 | PHKA1 | c.695C= (p.Ala232=) n.838C= | |
| X | g.72667397G>T | CA413594457 | PHKA1 | c.695C>A (p.Ala232Asp) n.838C>A | gnomAD v4 |
| X | g.72667398C>A | CA413594460 | PHKA1 | c.694G>T (p.Ala232Ser) n.837G>T | gnomAD v4 |
| X | g.72667398C>G | CA413594458 | PHKA1 | c.694G>C (p.Ala232Pro) n.837G>C | |
| X | g.72667398C>T | CA413594459 | PHKA1 | c.694G>A (p.Ala232Thr) n.837G>A | gnomAD v4 |
| X | g.72667399C>A | CA516753804 | PHKA1 | c.693G>T (p.Leu231=) n.836G>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.72667399C= | CA2436843973 | PHKA1 | c.693G= (p.Leu231=) n.836G= | |
| X | g.72667399C>G | CA516753805 | PHKA1 | c.693G>C (p.Leu231=) n.836G>C | |
| X | g.72667399C>T | CA516753806 | PHKA1 | c.693G>A (p.Leu231=) n.836G>A | gnomAD v4 |
| X | g.72667400A>C | CA413594461 | PHKA1 | c.692T>G (p.Leu231Arg) n.835T>G | |
| X | g.72667400A>G | CA413594462 | PHKA1 | c.692T>C (p.Leu231Pro) n.835T>C | |
| X | g.72667400A>T | CA413594463 | PHKA1 | c.692T>A (p.Leu231Gln) n.835T>A | |
| X | g.72667401G>A | CA516753807 | PHKA1 | c.691C>T (p.Leu231=) n.834C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.72667401G>C | CA413594464 | PHKA1 | c.691C>G (p.Leu231Val) n.834C>G | |
| X | g.72667401G= | CA2436843974 | PHKA1 | c.691C= (p.Leu231=) n.834C= | |
| X | g.72667401G>T | CA413594465 | PHKA1 | c.691C>A (p.Leu231Met) n.834C>A | |
| X | g.72667402G>A | CA516753808 | PHKA1 | c.690C>T (p.Val230=) n.833C>T | COSMIC COSMIC |
| X | g.72667402G>C | CA516753809 | PHKA1 | c.690C>G (p.Val230=) n.833C>G | |
| X | g.72667402G>T | CA516753810 | PHKA1 | c.690C>A (p.Val230=) n.833C>A | gnomAD v4 |
| X | g.72667403A>C | CA413594466 | PHKA1 | c.689T>G (p.Val230Gly) n.832T>G | |
| X | g.72667403A>G | CA413594467 | PHKA1 | c.689T>C (p.Val230Ala) n.832T>C | |
| X | g.72667403A>T | CA413594468 | PHKA1 | c.689T>A (p.Val230Asp) n.832T>A | |
| X | g.72667404C>A | CA413594469 | PHKA1 | c.688G>T (p.Val230Phe) n.831G>T | |
| X | g.72667404C>G | CA413594470 | PHKA1 | c.688G>C (p.Val230Leu) n.831G>C | |
| X | g.72667404C>T | CA413594471 | PHKA1 | c.688G>A (p.Val230Ile) n.831G>A | |
| X | g.72667405A= | CA2436843975 | PHKA1 | c.687T= (p.His229=) n.830T= | |
| X | g.72667405A>C | CA413594472 | PHKA1 | c.687T>G (p.His229Gln) n.830T>G | |
| X | g.72667405A>G | CA516753811 | PHKA1 | c.687T>C (p.His229=) n.830T>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.72667405A>T | CA413594473 | PHKA1 | c.687T>A (p.His229Gln) n.830T>A | dbSNP |
| X | g.72667406T>A | CA413594475 | PHKA1 | c.686A>T (p.His229Leu) n.829A>T | |
| X | g.72667406T>C | CA10451011 | PHKA1 | c.686A>G (p.His229Arg) n.829A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.72667406T>G | CA413594474 | PHKA1 | c.686A>C (p.His229Pro) n.829A>C | |
| X | g.72667406T= | CA2436843976 | PHKA1 | c.686A= (p.His229=) n.829A= | |
| X | g.72667407G>A | CA413594476 | PHKA1 | c.685C>T (p.His229Tyr) n.828C>T | gnomAD v4 |
| X | g.72667407G>C | CA413594477 | PHKA1 | c.685C>G (p.His229Asp) n.828C>G | |
| X | g.72667407G>T | CA413594478 | PHKA1 | c.685C>A (p.His229Asn) n.828C>A | gnomAD v4 |
| X | g.72667407_72667414delinsGGATAACT | CA2436843977 | PHKA1 | c.678_685delinsAGTTATCC (p.Ser226=) n.821_828delinsAGTTATCC | |
| X | g.72667408G>A | CA516753812 | PHKA1 | c.684C>T (p.Ile228=) n.827C>T | |
| X | g.72667408G>C | CA413594479 | PHKA1 | c.684C>G (p.Ile228Met) n.827C>G | |
| X | g.72667408G>T | CA516753813 | PHKA1 | c.684C>A (p.Ile228=) n.827C>A | |
| X | g.72667411_72667417del | CA1139667635 | PHKA1 | c.678_684del (p.Val227MetfsTer14) n.821_827del | ClinVar dbSNP |
| X | g.72667409A>C | CA413594480 | PHKA1 | c.683T>G (p.Ile228Ser) n.826T>G | |
| X | g.72667409A>G | CA413594481 | PHKA1 | c.683T>C (p.Ile228Thr) n.826T>C | |
| X | g.72667409A>T | CA413594482 | PHKA1 | c.683T>A (p.Ile228Asn) n.826T>A | |
| X | g.72667410T>A | CA413594483 | PHKA1 | c.682A>T (p.Ile228Phe) n.825A>T | |
| X | g.72667410T>C | CA413594484 | PHKA1 | c.682A>G (p.Ile228Val) n.825A>G | ClinVar |
| X | g.72667410T>G | CA413594485 | PHKA1 | c.682A>C (p.Ile228Leu) n.825A>C | |
| X | g.72667411A>C | CA516753814 | PHKA1 | c.681T>G (p.Val227=) n.824T>G | |
| X | g.72667411A>G | CA516753815 | PHKA1 | c.681T>C (p.Val227=) n.824T>C | |
| X | g.72667411A>T | CA516753816 | PHKA1 | c.681T>A (p.Val227=) n.824T>A | |
| X | g.72667412A>C | CA413594486 | PHKA1 | c.680T>G (p.Val227Gly) n.823T>G | |
| X | g.72667412A>G | CA413594487 | PHKA1 | c.680T>C (p.Val227Ala) n.823T>C | |
| X | g.72667412A>T | CA413594488 | PHKA1 | c.680T>A (p.Val227Asp) n.823T>A | |
| X | g.72667413C>A | CA413594490 | PHKA1 | c.679G>T (p.Val227Phe) n.822G>T | |
| X | g.72667413C= | CA2436843978 | PHKA1 | c.679G= (p.Val227=) n.822G= | |
| X | g.72667413C>G | CA413594489 | PHKA1 | c.679G>C (p.Val227Leu) n.822G>C | |
| X | g.72667413C>T | CA10451012 | PHKA1 | c.679G>A (p.Val227Ile) n.822G>A | dbSNP ExAC gnomAD v2 |
| X | g.72667414T>A | CA10451013 | PHKA1 | c.678A>T (p.Ser226=) n.821A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.72667414T>C | CA516753818 | PHKA1 | c.678A>G (p.Ser226=) n.821A>G | gnomAD v4 |
| X | g.72667414T>G | CA516753817 | PHKA1 | c.678A>C (p.Ser226=) n.821A>C | |
| X | g.72667414T= | CA2436843979 | PHKA1 | c.678A= (p.Ser226=) n.821A= | |
| X | g.72667415G>A | CA413594491 | PHKA1 | c.677C>T (p.Ser226Leu) n.820C>T | |
| X | g.72667415G>C | CA413594492 | PHKA1 | c.677C>G (p.Ser226Ter) n.820C>G | |
| X | g.72667415G>T | CA413594493 | PHKA1 | c.677C>A (p.Ser226Ter) n.820C>A | COSMIC COSMIC |
| X | g.72667416A>C | CA413594494 | PHKA1 | c.676T>G (p.Ser226Ala) n.819T>G | |
| X | g.72667416A>G | CA413594495 | PHKA1 | c.676T>C (p.Ser226Pro) n.819T>C | |
| X | g.72667416A>T | CA413594496 | PHKA1 | c.676T>A (p.Ser226Thr) n.819T>A | |
| X | g.72667417T>A | CA413594497 | PHKA1 | c.675A>T (p.Gln225His) n.818A>T | |
| X | g.72667417T>C | CA516753819 | PHKA1 | c.675A>G (p.Gln225=) n.818A>G | |
| X | g.72667417T>G | CA413594498 | PHKA1 | c.675A>C (p.Gln225His) n.818A>C | |
| X | g.72667418T>A | CA413594499 | PHKA1 | c.674A>T (p.Gln225Leu) n.817A>T | dbSNP gnomAD v4 |
| X | g.72667418T>C | CA413594500 | PHKA1 | c.674A>G (p.Gln225Arg) n.817A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.72667418T>G | CA413594501 | PHKA1 | c.674A>C (p.Gln225Pro) n.817A>C | |
| X | g.72667418T= | CA2436843980 | PHKA1 | c.674A= (p.Gln225=) n.817A= | |
| X | g.72667419G>A | CA413594502 | PHKA1 | c.673C>T (p.Gln225Ter) n.816C>T | |
| X | g.72667419G>C | CA413594504 | PHKA1 | c.673C>G (p.Gln225Glu) n.816C>G | |
| X | g.72667419G>T | CA413594503 | PHKA1 | c.673C>A (p.Gln225Lys) n.816C>A | |
| X | g.72667420A>C | CA516753820 | PHKA1 | c.672T>G (p.Pro224=) n.815T>G | |
| X | g.72667420A>G | CA516753822 | PHKA1 | c.672T>C (p.Pro224=) n.815T>C | |
| X | g.72667420A>T | CA516753821 | PHKA1 | c.672T>A (p.Pro224=) n.815T>A | |
| X | g.72667421G>A | CA413594505 | PHKA1 | c.671C>T (p.Pro224Leu) n.814C>T | |
| X | g.72667421G>C | CA413594506 | PHKA1 | c.671C>G (p.Pro224Arg) n.814C>G | |
| X | g.72667421G>T | CA413594507 | PHKA1 | c.671C>A (p.Pro224His) n.814C>A | |
| X | g.72667422G>A | CA413594508 | PHKA1 | c.670C>T (p.Pro224Ser) n.813C>T | |
| X | g.72667422G>C | CA413594509 | PHKA1 | c.670C>G (p.Pro224Ala) n.813C>G | |
| X | g.72667422G>T | CA413594510 | PHKA1 | c.670C>A (p.Pro224Thr) n.813C>A | |
| X | g.72667423C>A | CA516753823 | PHKA1 | c.669G>T (p.Gly223=) n.812G>T | |
| X | g.72667423C>G | CA516753824 | PHKA1 | c.669G>C (p.Gly223=) n.812G>C | |
| X | g.72667423C>T | CA516753825 | PHKA1 | c.669G>A (p.Gly223=) n.812G>A | |
| X | g.72667424C>A | CA413594513 | PHKA1 | c.668G>T (p.Gly223Val) n.811G>T | |
| X | g.72667424C>G | CA413594512 | PHKA1 | c.668G>C (p.Gly223Ala) n.811G>C | |
| X | g.72667424C>T | CA413594511 | PHKA1 | c.668G>A (p.Gly223Glu) n.811G>A | |
| X | g.72667425C>A | CA413594514 | PHKA1 | c.667G>T (p.Gly223Trp) n.810G>T | |
| X | g.72667425C= | CA2436843981 | PHKA1 | c.667G= (p.Gly223=) n.810G= | |
| X | g.72667425C>G | CA413594515 | PHKA1 | c.667G>C (p.Gly223Arg) n.810G>C | |
| X | g.72667425C>T | CA120816 | PHKA1 | c.667G>A (p.Gly223Arg) n.810G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.72667426A>C | CA516753826 | PHKA1 | c.666T>G (p.Gly222=) n.809T>G | |
| X | g.72667426A>G | CA516753827 | PHKA1 | c.666T>C (p.Gly222=) n.809T>C | |
| X | g.72667426A>T | CA516753828 | PHKA1 | c.666T>A (p.Gly222=) n.809T>A | |
| X | g.72667427C>A | CA413594516 | PHKA1 | c.665G>T (p.Gly222Val) n.808G>T | ClinVar |
| X | g.72667427C>G | CA413594517 | PHKA1 | c.665G>C (p.Gly222Ala) n.808G>C | |
| X | g.72667427C>T | CA413594518 | PHKA1 | c.665G>A (p.Gly222Asp) n.808G>A | |
| X | g.72667428C>A | CA413594519 | PHKA1 | c.664G>T (p.Gly222Cys) n.807G>T | ClinVar |
| X | g.72667428C>G | CA413594521 | PHKA1 | c.664G>C (p.Gly222Arg) n.807G>C | |
| X | g.72667428C>T | CA413594520 | PHKA1 | c.664G>A (p.Gly222Ser) n.807G>A | gnomAD v4 |
| X | g.72667429T>A | CA413594522 | PHKA1 | c.663A>T (p.Lys221Asn) n.806A>T | |
| X | g.72667429T>C | CA10451014 | PHKA1 | c.663A>G (p.Lys221=) n.806A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.72667429T>G | CA413594523 | PHKA1 | c.663A>C (p.Lys221Asn) n.806A>C | |
| X | g.72667429T= | CA2436843982 | PHKA1 | c.663A= (p.Lys221=) n.806A= | |
| X | g.72667429_72667431del | CA2821775028 | PHKA1 | c.661_663del (p.Lys221del) n.804_806del | |
| X | g.72667430T>A | CA413594524 | PHKA1 | c.662A>T (p.Lys221Ile) n.805A>T | |
| X | g.72667430T>C | CA413594525 | PHKA1 | c.662A>G (p.Lys221Arg) n.805A>G | |
| X | g.72667430T>G | CA413594526 | PHKA1 | c.662A>C (p.Lys221Thr) n.805A>C | |
| X | g.72667431T>A | CA413594527 | PHKA1 | c.661A>T (p.Lys221Ter) n.804A>T | |
| X | g.72667431T>C | CA413594528 | PHKA1 | c.661A>G (p.Lys221Glu) n.804A>G | |
| X | g.72667431T>G | CA413594529 | PHKA1 | c.661A>C (p.Lys221Gln) n.804A>C | |
| X | g.72667432C>A | CA516753829 | PHKA1 | c.660G>T (p.Val220=) n.803G>T | |
| X | g.72667432C>G | CA516753830 | PHKA1 | c.660G>C (p.Val220=) n.803G>C | |
| X | g.72667432C>T | CA516753831 | PHKA1 | c.660G>A (p.Val220=) n.803G>A | gnomAD v4 |
| X | g.72667433A>C | CA413594530 | PHKA1 | c.659T>G (p.Val220Gly) n.802T>G | |
| X | g.72667433A>G | CA413594531 | PHKA1 | c.659T>C (p.Val220Ala) n.802T>C | |
| X | g.72667433A>T | CA413594532 | PHKA1 | c.659T>A (p.Val220Glu) n.802T>A | |
| X | g.72667434C>A | CA10451016 | PHKA1 | c.658G>T (p.Val220Leu) n.801G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.72667434C= | CA2436843983 | PHKA1 | c.658G= (p.Val220=) n.801G= | |
| X | g.72667434C>G | CA413594533 | PHKA1 | c.658G>C (p.Val220Leu) n.801G>C | |
| X | g.72667434C>T | CA10451015 | PHKA1 | c.658G>A (p.Val220Met) n.801G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.72667435A>C | CA516753832 | PHKA1 | c.657T>G (p.Gly219=) n.800T>G | |
| X | g.72667435A>G | CA516753833 | PHKA1 | c.657T>C (p.Gly219=) n.800T>C | |
| X | g.72667435A>T | CA516753834 | PHKA1 | c.657T>A (p.Gly219=) n.800T>A | |
| X | g.72667436C>A | CA413594534 | PHKA1 | c.656G>T (p.Gly219Val) n.799G>T | |
| X | g.72667436C>G | CA413594535 | PHKA1 | c.656G>C (p.Gly219Ala) n.799G>C | |
| X | g.72667436C>T | CA413594536 | PHKA1 | c.656G>A (p.Gly219Asp) n.799G>A | |
| X | g.72667437C>A | CA413594537 | PHKA1 | c.655G>T (p.Gly219Cys) n.798G>T | gnomAD v4 |
| X | g.72667437C>G | CA413594538 | PHKA1 | c.655G>C (p.Gly219Arg) n.798G>C | |
| X | g.72667437C>T | CA413594539 | PHKA1 | c.655G>A (p.Gly219Ser) n.798G>A | gnomAD v4 |
| X | g.72667438A>C | CA413594541 | PHKA1 | c.654T>G (p.Phe218Leu) n.797T>G | |
| X | g.72667438A>G | CA516753835 | PHKA1 | c.654T>C (p.Phe218=) n.797T>C | |
| X | g.72667438A>T | CA413594540 | PHKA1 | c.654T>A (p.Phe218Leu) n.797T>A | |
| X | g.72667439A>C | CA413594542 | PHKA1 | c.653T>G (p.Phe218Cys) n.796T>G | |
| X | g.72667439A>G | CA413594543 | PHKA1 | c.653T>C (p.Phe218Ser) n.796T>C | |
| X | g.72667439A>T | CA413594544 | PHKA1 | c.653T>A (p.Phe218Tyr) n.796T>A | |
| X | g.72667440A>C | CA413594545 | PHKA1 | c.652T>G (p.Phe218Val) n.795T>G | |
| X | g.72667440A>G | CA413594546 | PHKA1 | c.652T>C (p.Phe218Leu) n.795T>C | gnomAD v4 |
| X | g.72667440A>T | CA413594547 | PHKA1 | c.652T>A (p.Phe218Ile) n.795T>A | |
| X | g.72667441C>A | CA516753836 | PHKA1 | c.651G>T (p.Leu217=) n.794G>T | |
| X | g.72667441C>G | CA516753837 | PHKA1 | c.651G>C (p.Leu217=) n.794G>C | |
| X | g.72667441C>T | CA516753838 | PHKA1 | c.651G>A (p.Leu217=) n.794G>A | |
| X | g.72667442A>C | CA413594548 | PHKA1 | c.650T>G (p.Leu217Arg) n.793T>G | |
| X | g.72667442A>G | CA413594550 | PHKA1 | c.650T>C (p.Leu217Pro) n.793T>C | |
| X | g.72667442A>T | CA413594549 | PHKA1 | c.650T>A (p.Leu217Gln) n.793T>A | |
| X | g.72667443G>A | CA516753839 | PHKA1 | c.649C>T (p.Leu217=) n.792C>T | COSMIC COSMIC |
| X | g.72667443G>C | CA413594551 | PHKA1 | c.649C>G (p.Leu217Val) n.792C>G | |
| X | g.72667443G>T | CA413594552 | PHKA1 | c.649C>A (p.Leu217Met) n.792C>A | |
| X | g.72667444A>C | CA413594553 | PHKA1 | c.648T>G (p.Asp216Glu) n.791T>G | |
| X | g.72667444A>G | CA516753840 | PHKA1 | c.648T>C (p.Asp216=) n.791T>C | gnomAD v4 |
| X | g.72667444A>T | CA413594554 | PHKA1 | c.648T>A (p.Asp216Glu) n.791T>A | |
| X | g.72667445T>A | CA413594555 | PHKA1 | c.647A>T (p.Asp216Val) n.790A>T | |
| X | g.72667445T>C | CA413594556 | PHKA1 | c.647A>G (p.Asp216Gly) n.790A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.72667445T>G | CA413594557 | PHKA1 | c.647A>C (p.Asp216Ala) n.790A>C | |
| X | g.72667445T= | CA2436843984 | PHKA1 | c.647A= (p.Asp216=) n.790A= | |
| X | g.72667446C>A | CA413594558 | PHKA1 | c.646G>T (p.Asp216Tyr) n.789G>T | |
| X | g.72667446C>G | CA413594559 | PHKA1 | c.646G>C (p.Asp216His) n.789G>C | |
| X | g.72667446C>T | CA413594560 | PHKA1 | c.646G>A (p.Asp216Asn) n.789G>A | |
| X | g.72667447del | CA2579646305 | PHKA1 | c.646del (p.Asp216IlefsTer5) n.789del | |
| X | g.72667447C>A | CA516753841 | PHKA1 | c.645G>T (p.Leu215=) n.788G>T | |
| X | g.72667447C= | CA2436843985 | PHKA1 | c.645G= (p.Leu215=) n.788G= | |
| X | g.72667447C>G | CA516753842 | PHKA1 | c.645G>C (p.Leu215=) n.788G>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.72667447C>T | CA10451017 | PHKA1 | c.645G>A (p.Leu215=) n.788G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.72667448A>C | CA413594561 | PHKA1 | c.644T>G (p.Leu215Arg) n.787T>G | gnomAD v4 |
| X | g.72667448A>G | CA413594563 | PHKA1 | c.644T>C (p.Leu215Pro) n.787T>C | |
| X | g.72667448A>T | CA413594562 | PHKA1 | c.644T>A (p.Leu215Gln) n.787T>A | |
| X | g.72667449G>A | CA516753843 | PHKA1 | c.643C>T (p.Leu215=) n.786C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.72667449G>C | CA413594564 | PHKA1 | c.643C>G (p.Leu215Val) n.786C>G | |
| X | g.72667449G= | CA2436843986 | PHKA1 | c.643C= (p.Leu215=) n.786C= | |
| X | g.72667449G>T | CA413594565 | PHKA1 | c.643C>A (p.Leu215Met) n.786C>A | gnomAD v4 |
| X | g.72667450T>A | CA413594566 | PHKA1 | c.642A>T (p.Glu214Asp) n.785A>T | |
| X | g.72667450T>C | CA516753844 | PHKA1 | c.642A>G (p.Glu214=) n.785A>G | |
| X | g.72667450T>G | CA413594567 | PHKA1 | c.642A>C (p.Glu214Asp) n.785A>C | |
| X | g.72667451T>A | CA413594568 | PHKA1 | c.641A>T (p.Glu214Val) n.784A>T | |
| X | g.72667451T>C | CA413594569 | PHKA1 | c.641A>G (p.Glu214Gly) n.784A>G | |
| X | g.72667451T>G | CA413594570 | PHKA1 | c.641A>C (p.Glu214Ala) n.784A>C | |
| X | g.72667452C>A | CA413594571 | PHKA1 | c.640G>T (p.Glu214Ter) n.783G>T | |
| X | g.72667452C= | CA2436843987 | PHKA1 | c.640G= (p.Glu214=) n.783G= | |
| X | g.72667452C>G | CA413594572 | PHKA1 | c.640G>C (p.Glu214Gln) n.783G>C | |
| X | g.72667452C>T | CA10451018 | PHKA1 | c.640G>A (p.Glu214Lys) n.783G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.72667453A>C | CA413594573 | PHKA1 | c.639T>G (p.Asp213Glu) n.782T>G | |
| X | g.72667453A>G | CA516753845 | PHKA1 | c.639T>C (p.Asp213=) n.782T>C | |
| X | g.72667453A>T | CA413594574 | PHKA1 | c.639T>A (p.Asp213Glu) n.782T>A | |
| X | g.72667454T>A | CA413594575 | PHKA1 | c.638A>T (p.Asp213Val) n.781A>T | |
| X | g.72667454T>C | CA413594576 | PHKA1 | c.638A>G (p.Asp213Gly) n.781A>G | |
| X | g.72667454T>G | CA413594577 | PHKA1 | c.638A>C (p.Asp213Ala) n.781A>C | |
| X | g.72667455C>A | CA413594578 | PHKA1 | c.637G>T (p.Asp213Tyr) n.780G>T | |
| X | g.72667455C>G | CA413594580 | PHKA1 | c.637G>C (p.Asp213His) n.780G>C | |
| X | g.72667455C>T | CA413594579 | PHKA1 | c.637G>A (p.Asp213Asn) n.780G>A | |
| X | g.72667456T>A | CA413594581 | PHKA1 | c.636A>T (p.Leu212Phe) n.779A>T | |
| X | g.72667456T>C | CA516753846 | PHKA1 | c.636A>G (p.Leu212=) n.779A>G | |
| X | g.72667456T>G | CA413594582 | PHKA1 | c.636A>C (p.Leu212Phe) n.779A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.72667456T= | CA2436843988 | PHKA1 | c.636A= (p.Leu212=) n.779A= | |
| X | g.72667457A>C | CA413594583 | PHKA1 | c.635T>G (p.Leu212Ter) n.778T>G | ClinVar dbSNP |
| X | g.72667457A>G | CA413594584 | PHKA1 | c.635T>C (p.Leu212Ser) n.778T>C | |
| X | g.72667457A>T | CA413594585 | PHKA1 | c.635T>A (p.Leu212Ter) n.778T>A | |
| X | g.72667458del | CA2821775032 | PHKA1 | c.635del (p.Leu212Ter) n.778del | |
| X | g.72667458A>C | CA413594586 | PHKA1 | c.634T>G (p.Leu212Val) n.777T>G | |
| X | g.72667458A>G | CA516753847 | PHKA1 | c.634T>C (p.Leu212=) n.777T>C | |
| X | g.72667458A>T | CA413594587 | PHKA1 | c.634T>A (p.Leu212Ile) n.777T>A | |
| X | g.72667459T>A | CA516753848 | PHKA1 | c.633A>T (p.Ala211=) n.776A>T | |
| X | g.72667459T>C | CA516753849 | PHKA1 | c.633A>G (p.Ala211=) n.776A>G | gnomAD v4 |
| X | g.72667459T>G | CA516753850 | PHKA1 | c.633A>C (p.Ala211=) n.776A>C | |
| X | g.72667460G>A | CA413594588 | PHKA1 | c.632C>T (p.Ala211Val) n.775C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.72667460G>C | CA10451019 | PHKA1 | c.632C>G (p.Ala211Gly) n.775C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.72667460G= | CA2436843989 | PHKA1 | c.632C= (p.Ala211=) n.775C= | |
| X | g.72667460G>T | CA413594589 | PHKA1 | c.632C>A (p.Ala211Glu) n.775C>A | |
| X | g.72667461C>A | CA413594592 | PHKA1 | c.631G>T (p.Ala211Ser) n.774G>T | |
| X | g.72667461C= | CA2436843990 | PHKA1 | c.631G= (p.Ala211=) n.774G= | |
| X | g.72667461C>G | CA413594591 | PHKA1 | c.631G>C (p.Ala211Pro) n.774G>C | |
| X | g.72667461C>T | CA413594590 | PHKA1 | c.631G>A (p.Ala211Thr) n.774G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.72667462T>A | CA413594593 | PHKA1 | c.630A>T (p.Glu210Asp) n.773A>T | |
| X | g.72667462T>C | CA516753851 | PHKA1 | c.630A>G (p.Glu210=) n.773A>G | |
| X | g.72667462T>G | CA413594594 | PHKA1 | c.630A>C (p.Glu210Asp) n.773A>C | |
| X | g.72667463T>A | CA413594595 | PHKA1 | c.629A>T (p.Glu210Val) n.772A>T | |
| X | g.72667463T>C | CA413594596 | PHKA1 | c.629A>G (p.Glu210Gly) n.772A>G | |
| X | g.72667463T>G | CA413594597 | PHKA1 | c.629A>C (p.Glu210Ala) n.772A>C | |
| X | g.72667464C>A | CA413594598 | PHKA1 | c.628G>T (p.Glu210Ter) n.771G>T | |
| X | g.72667464C= | CA2436843991 | PHKA1 | c.628G= (p.Glu210=) n.771G= | |
| X | g.72667464C>G | CA413594599 | PHKA1 | c.628G>C (p.Glu210Gln) n.771G>C | |
| X | g.72667464C>T | CA413594600 | PHKA1 | c.628G>A (p.Glu210Lys) n.771G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.72667465del | CA2579646306 | PHKA1 | c.628del (p.Glu210LysfsTer3) n.771del | |
| X | g.72667465C>A | CA516753852 | PHKA1 | c.627G>T (p.Leu209=) n.770G>T | dbSNP gnomAD v2 |
| X | g.72667465C= | CA2436843992 | PHKA1 | c.627G= (p.Leu209=) n.770G= | |
| X | g.72667465C>G | CA516753853 | PHKA1 | c.627G>C (p.Leu209=) n.770G>C | |
| X | g.72667465C>T | CA516753854 | PHKA1 | c.627G>A (p.Leu209=) n.770G>A | gnomAD v4 |
| X | g.72667466A>C | CA413594601 | PHKA1 | c.626T>G (p.Leu209Arg) n.769T>G | |
| X | g.72667466A>G | CA413594602 | PHKA1 | c.626T>C (p.Leu209Pro) n.769T>C | |
| X | g.72667466A>T | CA413594603 | PHKA1 | c.626T>A (p.Leu209Gln) n.769T>A | |
| X | g.72667467G>A | CA516753855 | PHKA1 | c.625C>T (p.Leu209=) n.768C>T | |
| X | g.72667467G>C | CA413594604 | PHKA1 | c.625C>G (p.Leu209Val) n.768C>G | |
| X | g.72667467G>T | CA413594605 | PHKA1 | c.625C>A (p.Leu209Met) n.768C>A | |
| X | g.72667468G>A | CA516753856 | PHKA1 | c.624C>T (p.Ala208=) n.767C>T | gnomAD v4 |
| X | g.72667468G>C | CA516753857 | PHKA1 | c.624C>G (p.Ala208=) n.767C>G | |
| X | g.72667468G>T | CA516753858 | PHKA1 | c.624C>A (p.Ala208=) n.767C>A | gnomAD v4 |
| X | g.72667469G>A | CA413594608 | PHKA1 | c.623C>T (p.Ala208Val) n.766C>T | |
| X | g.72667469G>C | CA413594606 | PHKA1 | c.623C>G (p.Ala208Gly) n.766C>G | |
| X | g.72667469G>T | CA413594607 | PHKA1 | c.623C>A (p.Ala208Asp) n.766C>A | gnomAD v4 |
| X | g.72667470C>A | CA413594609 | PHKA1 | c.622G>T (p.Ala208Ser) n.765G>T | |
| X | g.72667470C>G | CA413594610 | PHKA1 | c.622G>C (p.Ala208Pro) n.765G>C | |
| X | g.72667470C>T | CA413594611 | PHKA1 | c.622G>A (p.Ala208Thr) n.765G>A | gnomAD v4 COSMIC |
| X | g.72667471T>A | CA516753859 | PHKA1 | c.621A>T (p.Ala207=) n.764A>T | |
| X | g.72667471T>C | CA516753861 | PHKA1 | c.621A>G (p.Ala207=) n.764A>G | |
| X | g.72667471T>G | CA516753860 | PHKA1 | c.621A>C (p.Ala207=) n.764A>C | |
| X | g.72667472G>A | CA413594612 | PHKA1 | c.620C>T (p.Ala207Val) n.763C>T | |
| X | g.72667472G>C | CA413594613 | PHKA1 | c.620C>G (p.Ala207Gly) n.763C>G | |
| X | g.72667472G>T | CA413594614 | PHKA1 | c.620C>A (p.Ala207Glu) n.763C>A | gnomAD v4 |
| X | g.72667473C>A | CA413594615 | PHKA1 | c.619G>T (p.Ala207Ser) n.762G>T | |
| X | g.72667473C>G | CA413594616 | PHKA1 | c.619G>C (p.Ala207Pro) n.762G>C | |
| X | g.72667473C>T | CA413594617 | PHKA1 | c.619G>A (p.Ala207Thr) n.762G>A | |
| X | g.72667474C>A | CA413594618 | PHKA1 | c.619-1G>T (n.619-1G>T) n.762-1G>T | |
| X | g.72667474C>G | CA413594619 | PHKA1 | c.619-1G>C (n.619-1G>C) n.762-1G>C | |
| X | g.72667474C>T | CA413594620 | PHKA1 | c.619-1G>A (n.619-1G>A) n.762-1G>A | gnomAD v4 |