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.72667326G>T | CA2579646297 | PHKA1 | c.717+49C>A (n.717+49C>A) n.860+49C>A | gnomAD v4 |
| X | g.72667327T>C | CA2596528689 | PHKA1 | c.717+48A>G (n.717+48A>G) n.860+48A>G | gnomAD v3 gnomAD v4 |
| X | g.72667328C>A | CA2436843958 | PHKA1 | c.717+47G>T (n.717+47G>T) n.860+47G>T | dbSNP gnomAD v4 |
| X | g.72667328C= | CA2436843957 | PHKA1 | c.717+47G= (n.717+47G=) n.860+47G= | |
| X | g.72667329T>C | CA2694091608 | PHKA1 | c.717+46A>G (n.717+46A>G) n.860+46A>G | gnomAD v4 |
| X | g.72667330G>A | CA642480990 | PHKA1 | c.717+45C>T (n.717+45C>T) n.860+45C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.72667330G= | CA2436843959 | PHKA1 | c.717+45C= (n.717+45C=) n.860+45C= | |
| X | g.72667330G>T | CA2694091609 | PHKA1 | c.717+45C>A (n.717+45C>A) n.860+45C>A | gnomAD v4 |
| X | g.72667332del | CA2579646298 | PHKA1 | c.717+45del (n.717+45del) n.860+45del | |
| X | g.72667331G>A | CA642480991 | PHKA1 | c.717+44C>T (n.717+44C>T) n.860+44C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.72667331G= | CA2436843960 | PHKA1 | c.717+44C= (n.717+44C=) n.860+44C= | |
| X | g.72667331G>T | CA2579646299 | PHKA1 | c.717+44C>A (n.717+44C>A) n.860+44C>A | |
| X | g.72667332G>A | CA10451008 | PHKA1 | c.717+43C>T (n.717+43C>T) n.860+43C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.72667332G= | CA2436843961 | PHKA1 | c.717+43C= (n.717+43C=) n.860+43C= | |
| X | g.72667332G>T | CA2579646300 | PHKA1 | c.717+43C>A (n.717+43C>A) n.860+43C>A | gnomAD v4 |
| X | g.72667333C>A | CA642480993 | PHKA1 | c.717+42G>T (n.717+42G>T) n.860+42G>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.72667333C= | CA2436843962 | PHKA1 | c.717+42G= (n.717+42G=) n.860+42G= | |
| X | g.72667336G>A | CA642480995 | PHKA1 | c.717+39C>T (n.717+39C>T) n.860+39C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.72667336G= | CA2436843963 | PHKA1 | c.717+39C= (n.717+39C=) n.860+39C= | |
| X | g.72667336G>T | CA2694091610 | PHKA1 | c.717+39C>A (n.717+39C>A) n.860+39C>A | gnomAD v4 |
| X | g.72667344T>C | CA2554500041 | PHKA1 | c.717+31A>G (n.717+31A>G) n.860+31A>G | |
| X | g.72667347G>T | CA2694091611 | PHKA1 | c.717+28C>A (n.717+28C>A) n.860+28C>A | gnomAD v4 |
| X | g.72667348C>A | CA642480996 | PHKA1 | c.717+27G>T (n.717+27G>T) n.860+27G>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.72667348C= | CA2436843964 | PHKA1 | c.717+27G= (n.717+27G=) n.860+27G= | |
| X | g.72667348C>T | CA2436843965 | PHKA1 | c.717+27G>A (n.717+27G>A) n.860+27G>A | dbSNP gnomAD v4 |
| X | g.72667349T>C | CA2694091612 | PHKA1 | c.717+26A>G (n.717+26A>G) n.860+26A>G | gnomAD v4 |
| X | g.72667351T>C | CA2694091613 | PHKA1 | c.717+24A>G (n.717+24A>G) n.860+24A>G | gnomAD v4 |
| X | g.72667352T>C | CA2694091614 | PHKA1 | c.717+23A>G (n.717+23A>G) n.860+23A>G | gnomAD v4 |
| X | g.72667353T>C | CA2821775027 | PHKA1 | c.717+22A>G (n.717+22A>G) n.860+22A>G | |
| X | g.72667354C= | CA2436843966 | PHKA1 | c.717+21G= (n.717+21G=) n.860+21G= | |
| X | g.72667354C>T | CA642480997 | PHKA1 | c.717+21G>A (n.717+21G>A) n.860+21G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.72667355C>A | CA2694091615 | PHKA1 | c.717+20G>T (n.717+20G>T) n.860+20G>T | gnomAD v4 |
| X | g.72667360del | CA2579646301 | PHKA1 | c.717+18del (n.717+18del) n.860+18del | |
| X | g.72667358T>C | CA2579646302 | PHKA1 | c.717+17A>G (n.717+17A>G) n.860+17A>G | |
| X | g.72667359T>C | CA2694091616 | PHKA1 | c.717+16A>G (n.717+16A>G) n.860+16A>G | gnomAD v4 |
| X | g.72667360T>C | CA10451009 | PHKA1 | c.717+15A>G (n.717+15A>G) n.860+15A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.72667360T= | CA2436843967 | PHKA1 | c.717+15A= (n.717+15A=) n.860+15A= | |
| X | g.72667362C>T | CA2694091617 | PHKA1 | c.717+13G>A (n.717+13G>A) n.860+13G>A | gnomAD v4 |
| X | g.72667363A>G | CA2694091618 | PHKA1 | c.717+12T>C (n.717+12T>C) n.860+12T>C | gnomAD v4 |
| X | g.72667366A= | CA2436843968 | PHKA1 | c.717+9T= (n.717+9T=) n.860+9T= | |
| X | g.72667366A>G | CA10451010 | PHKA1 | c.717+9T>C (n.717+9T>C) n.860+9T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.72667367T>C | CA2579646303 | PHKA1 | c.717+8A>G (n.717+8A>G) n.860+8A>G | gnomAD v4 |
| X | g.72667370T>C | CA2565431465 | PHKA1 | c.717+5A>G (n.717+5A>G) n.860+5A>G | gnomAD v4 |
| X | g.72667373A>C | CA413594396 | PHKA1 | c.717+2T>G (n.717+2T>G) n.860+2T>G | |
| X | g.72667373A>G | CA413594398 | PHKA1 | c.717+2T>C (n.717+2T>C) n.860+2T>C | |
| X | g.72667373A>T | CA413594397 | PHKA1 | c.717+2T>A (n.717+2T>A) n.860+2T>A | |
| 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 |