| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.78118068A= | CA2439138585 | PGK1 | c.539A= (p.Asn180=) c.455A= (p.Asn152=) n.531A= | |
| X | g.78118068A>C | CA413721387 | PGK1 | c.539A>C (p.Asn180Thr) c.455A>C (p.Asn152Thr) n.531A>C | |
| X | g.78118068A>G | CA10459729 | PGK1 | c.539A>G (p.Asn180Ser) c.455A>G (p.Asn152Ser) n.531A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118068A>T | CA413721388 | PGK1 | c.539A>T (p.Asn180Ile) c.455A>T (p.Asn152Ile) n.531A>T | |
| X | g.78118069T>A | CA413721389 | PGK1 | c.540T>A (p.Asn180Lys) c.456T>A (p.Asn152Lys) n.532T>A | gnomAD v4 |
| X | g.78118069T>C | CA517379900 | PGK1 | c.540T>C (p.Asn180=) c.456T>C (p.Asn152=) n.532T>C | |
| X | g.78118069T>G | CA413721390 | PGK1 | c.540T>G (p.Asn180Lys) c.456T>G (p.Asn152Lys) n.532T>G | gnomAD v4 |
| X | g.78118070C>A | CA413721392 | PGK1 | c.541C>A (p.Leu181Met) c.457C>A (p.Leu153Met) n.533C>A | |
| X | g.78118070C>G | CA413721391 | PGK1 | c.541C>G (p.Leu181Val) c.457C>G (p.Leu153Val) n.533C>G | |
| X | g.78118070C>T | CA517379901 | PGK1 | c.541C>T (p.Leu181=) c.457C>T (p.Leu153=) n.533C>T | COSMIC |
| X | g.78118071T>A | CA413721393 | PGK1 | c.542T>A (p.Leu181Gln) c.458T>A (p.Leu153Gln) n.534T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118071T>C | CA413721394 | PGK1 | c.542T>C (p.Leu181Pro) c.458T>C (p.Leu153Pro) n.534T>C | |
| X | g.78118071T>G | CA413721395 | PGK1 | c.542T>G (p.Leu181Arg) c.458T>G (p.Leu153Arg) n.534T>G | |
| X | g.78118071T= | CA2439138586 | PGK1 | c.542T= (p.Leu181=) c.458T= (p.Leu153=) n.534T= | |
| X | g.78118072G>A | CA517379905 | PGK1 | c.543G>A (p.Leu181=) c.459G>A (p.Leu153=) n.535G>A | |
| X | g.78118072G>C | CA517379904 | PGK1 | c.543G>C (p.Leu181=) c.459G>C (p.Leu153=) n.535G>C | gnomAD v4 |
| X | g.78118072G>T | CA517379903 | PGK1 | c.543G>T (p.Leu181=) c.459G>T (p.Leu153=) n.535G>T | |
| X | g.78118073C>A | CA413721396 | PGK1 | c.544C>A (p.Pro182Thr) c.460C>A (p.Pro154Thr) n.536C>A | gnomAD v4 |
| X | g.78118073C>G | CA413721397 | PGK1 | c.544C>G (p.Pro182Ala) c.460C>G (p.Pro154Ala) n.536C>G | |
| X | g.78118073C>T | CA413721398 | PGK1 | c.544C>T (p.Pro182Ser) c.460C>T (p.Pro154Ser) n.536C>T | |
| X | g.78118074C>A | CA413721400 | PGK1 | c.545C>A (p.Pro182Gln) c.461C>A (p.Pro154Gln) n.537C>A | |
| X | g.78118074C= | CA2439138587 | PGK1 | c.545C= (p.Pro182=) c.461C= (p.Pro154=) n.537C= | |
| X | g.78118074C>G | CA413721399 | PGK1 | c.545C>G (p.Pro182Arg) c.461C>G (p.Pro154Arg) n.537C>G | |
| X | g.78118074C>T | CA10459730 | PGK1 | c.545C>T (p.Pro182Leu) c.461C>T (p.Pro154Leu) n.537C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118075A>C | CA517379906 | PGK1 | c.546A>C (p.Pro182=) c.462A>C (p.Pro154=) n.538A>C | |
| X | g.78118075A>G | CA517379908 | PGK1 | c.546A>G (p.Pro182=) c.462A>G (p.Pro154=) n.538A>G | |
| X | g.78118075A>T | CA517379907 | PGK1 | c.546A>T (p.Pro182=) c.462A>T (p.Pro154=) n.538A>T | |
| X | g.78118076C>A | CA413721401 | PGK1 | c.547C>A (p.Gln183Lys) c.463C>A (p.Gln155Lys) n.539C>A | |
| X | g.78118076C>G | CA413721403 | PGK1 | c.547C>G (p.Gln183Glu) c.463C>G (p.Gln155Glu) n.539C>G | |
| X | g.78118076C>T | CA413721402 | PGK1 | c.547C>T (p.Gln183Ter) c.463C>T (p.Gln155Ter) n.539C>T | |
| X | g.78118077A>C | CA413721404 | PGK1 | c.548A>C (p.Gln183Pro) c.464A>C (p.Gln155Pro) n.540A>C | |
| X | g.78118077A>G | CA413721406 | PGK1 | c.548A>G (p.Gln183Arg) c.464A>G (p.Gln155Arg) n.540A>G | |
| X | g.78118077A>T | CA413721405 | PGK1 | c.548A>T (p.Gln183Leu) c.464A>T (p.Gln155Leu) n.540A>T | |
| X | g.78118078G>A | CA517379909 | PGK1 | c.549G>A (p.Gln183=) c.465G>A (p.Gln155=) n.541G>A | |
| X | g.78118078G>C | CA413721407 | PGK1 | c.549G>C (p.Gln183His) c.465G>C (p.Gln155His) n.541G>C | |
| X | g.78118078G>T | CA413721408 | PGK1 | c.549G>T (p.Gln183His) c.465G>T (p.Gln155His) n.541G>T | |
| X | g.78118079A>C | CA413721409 | PGK1 | c.550A>C (p.Lys184Gln) c.466A>C (p.Lys156Gln) n.542A>C | |
| X | g.78118079A>G | CA413721411 | PGK1 | c.550A>G (p.Lys184Glu) c.466A>G (p.Lys156Glu) n.542A>G | |
| X | g.78118079A>T | CA413721410 | PGK1 | c.550A>T (p.Lys184Ter) c.466A>T (p.Lys156Ter) n.542A>T | |
| X | g.78118080A>C | CA413721412 | PGK1 | c.551A>C (p.Lys184Thr) c.467A>C (p.Lys156Thr) n.543A>C | |
| X | g.78118080A>G | CA413721414 | PGK1 | c.551A>G (p.Lys184Arg) c.467A>G (p.Lys156Arg) n.543A>G | |
| X | g.78118080A>T | CA413721413 | PGK1 | c.551A>T (p.Lys184Met) c.467A>T (p.Lys156Met) n.543A>T | |
| X | g.78118081G>A | CA517379910 | PGK1 | c.552G>A (p.Lys184=) c.468G>A (p.Lys156=) n.544G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118081G>C | CA10459731 | PGK1 | c.552G>C (p.Lys184Asn) c.468G>C (p.Lys156Asn) n.544G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118081G= | CA2439138588 | PGK1 | c.552G= (p.Lys184=) c.468G= (p.Lys156=) n.544G= | |
| X | g.78118081G>T | CA413721415 | PGK1 | c.552G>T (p.Lys184Asn) c.468G>T (p.Lys156Asn) n.544G>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.78118082G>A | CA413721416 | PGK1 | c.553G>A (p.Ala185Thr) c.469G>A (p.Ala157Thr) n.545G>A | gnomAD v4 |
| X | g.78118082G>C | CA413721417 | PGK1 | c.553G>C (p.Ala185Pro) c.469G>C (p.Ala157Pro) n.545G>C | |
| X | g.78118082G>T | CA413721418 | PGK1 | c.553G>T (p.Ala185Ser) c.469G>T (p.Ala157Ser) n.545G>T | ClinVar |
| X | g.78118083C>A | CA413721419 | PGK1 | c.554C>A (p.Ala185Asp) c.470C>A (p.Ala157Asp) n.546C>A | |
| X | g.78118083C>G | CA413721420 | PGK1 | c.554C>G (p.Ala185Gly) c.470C>G (p.Ala157Gly) n.546C>G | |
| X | g.78118083C>T | CA413721421 | PGK1 | c.554C>T (p.Ala185Val) c.470C>T (p.Ala157Val) n.546C>T | |
| X | g.78118084T>A | CA10459732 | PGK1 | c.555T>A (p.Ala185=) c.471T>A (p.Ala157=) n.547T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118084T>C | CA517379911 | PGK1 | c.555T>C (p.Ala185=) c.471T>C (p.Ala157=) n.547T>C | |
| X | g.78118084T>G | CA517379912 | PGK1 | c.555T>G (p.Ala185=) c.471T>G (p.Ala157=) n.547T>G | |
| X | g.78118084T= | CA2439138589 | PGK1 | c.555T= (p.Ala185=) c.471T= (p.Ala157=) n.547T= | |
| X | g.78118085G>A | CA413721422 | PGK1 | c.556G>A (p.Gly186Ser) c.472G>A (p.Gly158Ser) n.548G>A | |
| X | g.78118085G>C | CA413721423 | PGK1 | c.556G>C (p.Gly186Arg) c.472G>C (p.Gly158Arg) n.548G>C | |
| X | g.78118085G>T | CA413721424 | PGK1 | c.556G>T (p.Gly186Cys) c.472G>T (p.Gly158Cys) n.548G>T | |
| X | g.78118086G>A | CA413721425 | PGK1 | c.557G>A (p.Gly186Asp) c.473G>A (p.Gly158Asp) n.549G>A | |
| X | g.78118086G>C | CA413721427 | PGK1 | c.557G>C (p.Gly186Ala) c.473G>C (p.Gly158Ala) n.549G>C | |
| X | g.78118086G>T | CA413721426 | PGK1 | c.557G>T (p.Gly186Val) c.473G>T (p.Gly158Val) n.549G>T | |
| X | g.78118087T>A | CA517379915 | PGK1 | c.558T>A (p.Gly186=) c.474T>A (p.Gly158=) n.550T>A | |
| X | g.78118087T>C | CA517379916 | PGK1 | c.558T>C (p.Gly186=) c.474T>C (p.Gly158=) n.550T>C | |
| X | g.78118087T>G | CA517379917 | PGK1 | c.558T>G (p.Gly186=) c.474T>G (p.Gly158=) n.550T>G | |
| X | g.78118088G>A | CA413721428 | PGK1 | c.559G>A (p.Gly187Arg) c.475G>A (p.Gly159Arg) n.551G>A | |
| X | g.78118088G>C | CA413721429 | PGK1 | c.559G>C (p.Gly187Arg) c.475G>C (p.Gly159Arg) n.551G>C | |
| X | g.78118088G>T | CA413721430 | PGK1 | c.559G>T (p.Gly187Trp) c.475G>T (p.Gly159Trp) n.551G>T | |
| X | g.78118089G>A | CA413721431 | PGK1 | c.560G>A (p.Gly187Glu) c.476G>A (p.Gly159Glu) n.552G>A | |
| X | g.78118089G>C | CA413721432 | PGK1 | c.560G>C (p.Gly187Ala) c.476G>C (p.Gly159Ala) n.552G>C | |
| X | g.78118089G>T | CA413721433 | PGK1 | c.560G>T (p.Gly187Val) c.476G>T (p.Gly159Val) n.552G>T | |
| X | g.78118090G>A | CA517379921 | PGK1 | c.561G>A (p.Gly187=) c.477G>A (p.Gly159=) n.553G>A | |
| X | g.78118090G>C | CA517379918 | PGK1 | c.561G>C (p.Gly187=) c.477G>C (p.Gly159=) n.553G>C | |
| X | g.78118090G>T | CA517379919 | PGK1 | c.561G>T (p.Gly187=) c.477G>T (p.Gly159=) n.553G>T | COSMIC |
| X | g.78118091T>A | CA413721434 | PGK1 | c.562T>A (p.Phe188Ile) c.478T>A (p.Phe160Ile) n.554T>A | |
| X | g.78118091T>C | CA413721435 | PGK1 | c.562T>C (p.Phe188Leu) c.478T>C (p.Phe160Leu) n.554T>C | |
| X | g.78118091T>G | CA10459733 | PGK1 | c.562T>G (p.Phe188Val) c.478T>G (p.Phe160Val) n.554T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118091T= | CA2439138590 | PGK1 | c.562T= (p.Phe188=) c.478T= (p.Phe160=) n.554T= | |
| X | g.78118095del | CA2579650766 | PGK1 | c.566del (p.Leu189Ter) c.482del (p.Leu161Ter) n.558del | gnomAD v4 |
| X | g.78118092T>A | CA413721438 | PGK1 | c.563T>A (p.Phe188Tyr) c.479T>A (p.Phe160Tyr) n.555T>A | |
| X | g.78118092T>C | CA413721437 | PGK1 | c.563T>C (p.Phe188Ser) c.479T>C (p.Phe160Ser) n.555T>C | |
| X | g.78118092T>G | CA413721436 | PGK1 | c.563T>G (p.Phe188Cys) c.479T>G (p.Phe160Cys) n.555T>G | |
| X | g.78118093T>A | CA413721439 | PGK1 | c.564T>A (p.Phe188Leu) c.480T>A (p.Phe160Leu) n.556T>A | |
| X | g.78118093T>C | CA517379923 | PGK1 | c.564T>C (p.Phe188=) c.480T>C (p.Phe160=) n.556T>C | |
| X | g.78118093T>G | CA413721440 | PGK1 | c.564T>G (p.Phe188Leu) c.480T>G (p.Phe160Leu) n.556T>G | |
| X | g.78118094T>A | CA413721441 | PGK1 | c.565T>A (p.Leu189Met) c.481T>A (p.Leu161Met) n.557T>A | |
| X | g.78118094T>C | CA517379924 | PGK1 | c.565T>C (p.Leu189=) c.481T>C (p.Leu161=) n.557T>C | |
| X | g.78118094T>G | CA10459734 | PGK1 | c.565T>G (p.Leu189Val) c.481T>G (p.Leu161Val) n.557T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118094T= | CA2439138591 | PGK1 | c.565T= (p.Leu189=) c.481T= (p.Leu161=) n.557T= | |
| X | g.78118095T>A | CA413721442 | PGK1 | c.566T>A (p.Leu189Ter) c.482T>A (p.Leu161Ter) n.558T>A | |
| X | g.78118095T>C | CA413721443 | PGK1 | c.566T>C (p.Leu189Ser) c.482T>C (p.Leu161Ser) n.558T>C | |
| X | g.78118095T>G | CA413721444 | PGK1 | c.566T>G (p.Leu189Trp) c.482T>G (p.Leu161Trp) n.558T>G | |
| X | g.78118096G>A | CA517379925 | PGK1 | c.567G>A (p.Leu189=) c.483G>A (p.Leu161=) n.559G>A | COSMIC |
| X | g.78118096G>C | CA413721445 | PGK1 | c.567G>C (p.Leu189Phe) c.483G>C (p.Leu161Phe) n.559G>C | |
| X | g.78118096G>T | CA413721446 | PGK1 | c.567G>T (p.Leu189Phe) c.483G>T (p.Leu161Phe) n.559G>T | |
| X | g.78118097A>C | CA413721447 | PGK1 | c.568A>C (p.Met190Leu) c.484A>C (p.Met162Leu) n.560A>C | |
| X | g.78118097A>G | CA413721448 | PGK1 | c.568A>G (p.Met190Val) c.484A>G (p.Met162Val) n.560A>G | |
| X | g.78118097A>T | CA413721449 | PGK1 | c.568A>T (p.Met190Leu) c.484A>T (p.Met162Leu) n.560A>T | |
| X | g.78118098T>A | CA413721452 | PGK1 | c.569T>A (p.Met190Lys) c.485T>A (p.Met162Lys) n.561T>A | |
| X | g.78118098T>C | CA413721450 | PGK1 | c.569T>C (p.Met190Thr) c.485T>C (p.Met162Thr) n.561T>C | |
| X | g.78118098T>G | CA413721451 | PGK1 | c.569T>G (p.Met190Arg) c.485T>G (p.Met162Arg) n.561T>G | |
| X | g.78118098_78118101delinsTGAA | CA2439138592 | PGK1 | c.569_572delinsTGAA (p.Met190=) c.485_488delinsTGAA (p.Met162=) n.561_564delinsTGAA | |
| X | g.78118099G>A | CA413721453 | PGK1 | c.570G>A (p.Met190Ile) c.486G>A (p.Met162Ile) n.562G>A | COSMIC |
| X | g.78118099G>C | CA413721454 | PGK1 | c.570G>C (p.Met190Ile) c.486G>C (p.Met162Ile) n.562G>C | |
| X | g.78118099G>T | CA413721455 | PGK1 | c.570G>T (p.Met190Ile) c.486G>T (p.Met162Ile) n.562G>T | |
| X | g.78118103_78118105del | CA120827 | PGK1 | c.574_576del (p.Lys192del) c.490_492del (p.Lys164del) n.566_568del | ClinVar dbSNP |
| X | g.78118100A>C | CA413721456 | PGK1 | c.571A>C (p.Lys191Gln) c.487A>C (p.Lys163Gln) n.563A>C | |
| X | g.78118100A>G | CA413721457 | PGK1 | c.571A>G (p.Lys191Glu) c.487A>G (p.Lys163Glu) n.563A>G | |
| X | g.78118100A>T | CA413721458 | PGK1 | c.571A>T (p.Lys191Ter) c.487A>T (p.Lys163Ter) n.563A>T | |
| X | g.78118101A>C | CA413721459 | PGK1 | c.572A>C (p.Lys191Thr) c.488A>C (p.Lys163Thr) n.564A>C | |
| X | g.78118101A>G | CA413721460 | PGK1 | c.572A>G (p.Lys191Arg) c.488A>G (p.Lys163Arg) n.564A>G | |
| X | g.78118101A>T | CA413721461 | PGK1 | c.572A>T (p.Lys191Met) c.488A>T (p.Lys163Met) n.564A>T | |
| X | g.78118102G>A | CA517379926 | PGK1 | c.573G>A (p.Lys191=) c.489G>A (p.Lys163=) n.565G>A | |
| X | g.78118102G>C | CA413721462 | PGK1 | c.573G>C (p.Lys191Asn) c.489G>C (p.Lys163Asn) n.565G>C | gnomAD v4 |
| X | g.78118102G>T | CA413721463 | PGK1 | c.573G>T (p.Lys191Asn) c.489G>T (p.Lys163Asn) n.565G>T | |
| X | g.78118103A>C | CA413721465 | PGK1 | c.574A>C (p.Lys192Gln) c.490A>C (p.Lys164Gln) n.566A>C | |
| X | g.78118103A>G | CA413721466 | PGK1 | c.574A>G (p.Lys192Glu) c.490A>G (p.Lys164Glu) n.566A>G | |
| X | g.78118103A>T | CA413721464 | PGK1 | c.574A>T (p.Lys192Ter) c.490A>T (p.Lys164Ter) n.566A>T | |
| X | g.78118104A= | CA2439138593 | PGK1 | c.575A= (p.Lys192=) c.491A= (p.Lys164=) n.567A= | |
| X | g.78118104A>C | CA413721467 | PGK1 | c.575A>C (p.Lys192Thr) c.491A>C (p.Lys164Thr) n.567A>C | |
| X | g.78118104A>G | CA413721468 | PGK1 | c.575A>G (p.Lys192Arg) c.491A>G (p.Lys164Arg) n.567A>G | |
| X | g.78118104A>T | CA10459735 | PGK1 | c.575A>T (p.Lys192Met) c.491A>T (p.Lys164Met) n.567A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78118105G>A | CA517379927 | PGK1 | c.576G>A (p.Lys192=) c.492G>A (p.Lys164=) n.568G>A | |
| X | g.78118105G>C | CA413721469 | PGK1 | c.576G>C (p.Lys192Asn) c.492G>C (p.Lys164Asn) n.568G>C | ClinVar |
| X | g.78118105G>T | CA413721470 | PGK1 | c.576G>T (p.Lys192Asn) c.492G>T (p.Lys164Asn) n.568G>T | |
| X | g.78118106G>A | CA413721471 | PGK1 | c.577G>A (p.Glu193Lys) c.493G>A (p.Glu165Lys) n.569G>A | |
| X | g.78118106G>C | CA413721472 | PGK1 | c.577G>C (p.Glu193Gln) c.493G>C (p.Glu165Gln) n.569G>C | |
| X | g.78118106G>T | CA413721473 | PGK1 | c.577G>T (p.Glu193Ter) c.493G>T (p.Glu165Ter) n.569G>T | |
| X | g.78118107A>C | CA413721474 | PGK1 | c.578A>C (p.Glu193Ala) c.494A>C (p.Glu165Ala) n.570A>C | |
| X | g.78118107A>G | CA413721475 | PGK1 | c.578A>G (p.Glu193Gly) c.494A>G (p.Glu165Gly) n.570A>G | |
| X | g.78118107A>T | CA413721476 | PGK1 | c.578A>T (p.Glu193Val) c.494A>T (p.Glu165Val) n.570A>T | |
| X | g.78118108G>A | CA517379928 | PGK1 | c.579G>A (p.Glu193=) c.495G>A (p.Glu165=) n.571G>A | gnomAD v4 |
| X | g.78118108G>C | CA413721477 | PGK1 | c.579G>C (p.Glu193Asp) c.495G>C (p.Glu165Asp) n.571G>C | |
| X | g.78118108G>T | CA413721478 | PGK1 | c.579G>T (p.Glu193Asp) c.495G>T (p.Glu165Asp) n.571G>T | |
| X | g.78118109C>A | CA413721480 | PGK1 | c.580C>A (p.Leu194Met) c.496C>A (p.Leu166Met) n.572C>A | |
| X | g.78118109C>G | CA413721479 | PGK1 | c.580C>G (p.Leu194Val) c.496C>G (p.Leu166Val) n.572C>G | |
| X | g.78118109C>T | CA517379930 | PGK1 | c.580C>T (p.Leu194=) c.496C>T (p.Leu166=) n.572C>T | |
| X | g.78118110T>A | CA413721481 | PGK1 | c.581T>A (p.Leu194Gln) c.497T>A (p.Leu166Gln) n.573T>A | |
| X | g.78118110T>C | CA413721482 | PGK1 | c.581T>C (p.Leu194Pro) c.497T>C (p.Leu166Pro) n.573T>C | |
| X | g.78118110T>G | CA413721483 | PGK1 | c.581T>G (p.Leu194Arg) c.497T>G (p.Leu166Arg) n.573T>G | |
| X | g.78118111G>A | CA517379931 | PGK1 | c.582G>A (p.Leu194=) c.498G>A (p.Leu166=) n.574G>A | gnomAD v4 |
| X | g.78118111G>C | CA517379932 | PGK1 | c.582G>C (p.Leu194=) c.498G>C (p.Leu166=) n.574G>C | |
| X | g.78118111G>T | CA517379933 | PGK1 | c.582G>T (p.Leu194=) c.498G>T (p.Leu166=) n.574G>T | |
| X | g.78118112A>C | CA413721484 | PGK1 | c.583A>C (p.Asn195His) c.499A>C (p.Asn167His) n.575A>C | |
| X | g.78118112A>G | CA413721485 | PGK1 | c.583A>G (p.Asn195Asp) c.499A>G (p.Asn167Asp) n.575A>G | |
| X | g.78118112A>T | CA413721486 | PGK1 | c.583A>T (p.Asn195Tyr) c.499A>T (p.Asn167Tyr) n.575A>T | |
| X | g.78118113A>C | CA413721489 | PGK1 | c.584A>C (p.Asn195Thr) c.500A>C (p.Asn167Thr) n.576A>C | |
| X | g.78118113A>G | CA413721487 | PGK1 | c.584A>G (p.Asn195Ser) c.500A>G (p.Asn167Ser) n.576A>G | COSMIC |
| X | g.78118113A>T | CA413721488 | PGK1 | c.584A>T (p.Asn195Ile) c.500A>T (p.Asn167Ile) n.576A>T | |
| X | g.78118114C>A | CA413721490 | PGK1 | c.585C>A (p.Asn195Lys) c.501C>A (p.Asn167Lys) n.577C>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.78118114C= | CA2439138594 | PGK1 | c.585C= (p.Asn195=) c.501C= (p.Asn167=) n.577C= | |
| X | g.78118114C>G | CA413721491 | PGK1 | c.585C>G (p.Asn195Lys) c.501C>G (p.Asn167Lys) n.577C>G | |
| X | g.78118114C>T | CA517379934 | PGK1 | c.585C>T (p.Asn195=) c.501C>T (p.Asn167=) n.577C>T | |
| X | g.78118115del | CA2579650767 | PGK1 | c.586del (p.Tyr196ThrfsTer?) c.502del (p.Tyr168ThrfsTer?) n.578del | |
| X | g.78118115T>A | CA413721492 | PGK1 | c.586T>A (p.Tyr196Asn) c.502T>A (p.Tyr168Asn) n.578T>A | |
| X | g.78118115T>C | CA413721493 | PGK1 | c.586T>C (p.Tyr196His) c.502T>C (p.Tyr168His) n.578T>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.78118115T>G | CA413721494 | PGK1 | c.586T>G (p.Tyr196Asp) c.502T>G (p.Tyr168Asp) n.578T>G | |
| X | g.78118115T= | CA2439138595 | PGK1 | c.586T= (p.Tyr196=) c.502T= (p.Tyr168=) n.578T= | |
| X | g.78118116A= | CA2439138596 | PGK1 | c.587A= (p.Tyr196=) c.503A= (p.Tyr168=) n.579A= | |
| X | g.78118116A>C | CA413721495 | PGK1 | c.587A>C (p.Tyr196Ser) c.503A>C (p.Tyr168Ser) n.579A>C | |
| X | g.78118116A>G | CA413721497 | PGK1 | c.587A>G (p.Tyr196Cys) c.503A>G (p.Tyr168Cys) n.579A>G | dbSNP gnomAD v2 |
| X | g.78118116A>T | CA413721496 | PGK1 | c.587A>T (p.Tyr196Phe) c.503A>T (p.Tyr168Phe) n.579A>T | |
| X | g.78118117C>A | CA413721498 | PGK1 | c.588C>A (p.Tyr196Ter) c.504C>A (p.Tyr168Ter) n.580C>A | |
| X | g.78118117C>G | CA413721499 | PGK1 | c.588C>G (p.Tyr196Ter) c.504C>G (p.Tyr168Ter) n.580C>G | |
| X | g.78118117C>T | CA517379935 | PGK1 | c.588C>T (p.Tyr196=) c.504C>T (p.Tyr168=) n.580C>T | |
| X | g.78118118T>A | CA413721500 | PGK1 | c.589T>A (p.Phe197Ile) c.505T>A (p.Phe169Ile) n.581T>A | COSMIC |
| X | g.78118118T>C | CA413721501 | PGK1 | c.589T>C (p.Phe197Leu) c.505T>C (p.Phe169Leu) n.581T>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.78118118T>G | CA413721502 | PGK1 | c.589T>G (p.Phe197Val) c.505T>G (p.Phe169Val) n.581T>G | |
| X | g.78118118T= | CA2439138597 | PGK1 | c.589T= (p.Phe197=) c.505T= (p.Phe169=) n.581T= | |
| X | g.78118119T>A | CA413721503 | PGK1 | c.590T>A (p.Phe197Tyr) c.506T>A (p.Phe169Tyr) n.582T>A | |
| X | g.78118119T>C | CA413721504 | PGK1 | c.590T>C (p.Phe197Ser) c.506T>C (p.Phe169Ser) n.582T>C | |
| X | g.78118119T>G | CA413721505 | PGK1 | c.590T>G (p.Phe197Cys) c.506T>G (p.Phe169Cys) n.582T>G | |
| X | g.78118120T>A | CA413721506 | PGK1 | c.591T>A (p.Phe197Leu) c.507T>A (p.Phe169Leu) n.583T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118120T>C | CA517379936 | PGK1 | c.591T>C (p.Phe197=) c.507T>C (p.Phe169=) n.583T>C | |
| X | g.78118120T>G | CA413721507 | PGK1 | c.591T>G (p.Phe197Leu) c.507T>G (p.Phe169Leu) n.583T>G | |
| X | g.78118120T= | CA2439138598 | PGK1 | c.591T= (p.Phe197=) c.507T= (p.Phe169=) n.583T= | |
| X | g.78118121G>A | CA413721508 | PGK1 | c.592G>A (p.Ala198Thr) c.508G>A (p.Ala170Thr) n.584G>A | |
| X | g.78118121G>C | CA413721509 | PGK1 | c.592G>C (p.Ala198Pro) c.508G>C (p.Ala170Pro) n.584G>C | |
| X | g.78118121G>T | CA413721510 | PGK1 | c.592G>T (p.Ala198Ser) c.508G>T (p.Ala170Ser) n.584G>T | |
| X | g.78118122del | CA2579650768 | PGK1 | c.593del (p.Ala198GlufsTer?) c.509del (p.Ala170GlufsTer?) n.585del | |
| X | g.78118122C>A | CA413721513 | PGK1 | c.593C>A (p.Ala198Glu) c.509C>A (p.Ala170Glu) n.585C>A | |
| X | g.78118122C>G | CA413721511 | PGK1 | c.593C>G (p.Ala198Gly) c.509C>G (p.Ala170Gly) n.585C>G | |
| X | g.78118122C>T | CA413721512 | PGK1 | c.593C>T (p.Ala198Val) c.509C>T (p.Ala170Val) n.585C>T | |
| X | g.78118123A>C | CA517379939 | PGK1 | c.594A>C (p.Ala198=) c.510A>C (p.Ala170=) n.586A>C | |
| X | g.78118123A>G | CA517379940 | PGK1 | c.594A>G (p.Ala198=) c.510A>G (p.Ala170=) n.586A>G | |
| X | g.78118123A>T | CA517379941 | PGK1 | c.594A>T (p.Ala198=) c.510A>T (p.Ala170=) n.586A>T | |
| X | g.78118124A>C | CA413721514 | PGK1 | c.595A>C (p.Lys199Gln) c.511A>C (p.Lys171Gln) n.587A>C | |
| X | g.78118124A>G | CA413721515 | PGK1 | c.595A>G (p.Lys199Glu) c.511A>G (p.Lys171Glu) n.587A>G | gnomAD v4 |
| X | g.78118124A>T | CA413721516 | PGK1 | c.595A>T (p.Lys199Ter) c.511A>T (p.Lys171Ter) n.587A>T | |
| X | g.78118125A= | CA2439138599 | PGK1 | c.596A= (p.Lys199=) c.512A= (p.Lys171=) n.588A= | |
| X | g.78118125A>C | CA413721517 | PGK1 | c.596A>C (p.Lys199Thr) c.512A>C (p.Lys171Thr) n.588A>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.78118125A>G | CA413721518 | PGK1 | c.596A>G (p.Lys199Arg) c.512A>G (p.Lys171Arg) n.588A>G | |
| X | g.78118125A>T | CA413721519 | PGK1 | c.596A>T (p.Lys199Met) c.512A>T (p.Lys171Met) n.588A>T | |
| X | g.78118126G>A | CA517379942 | PGK1 | c.597G>A (p.Lys199=) c.513G>A (p.Lys171=) n.589G>A | |
| X | g.78118126G>C | CA413721520 | PGK1 | c.597G>C (p.Lys199Asn) c.513G>C (p.Lys171Asn) n.589G>C | |
| X | g.78118126G>T | CA413721521 | PGK1 | c.597G>T (p.Lys199Asn) c.513G>T (p.Lys171Asn) n.589G>T | |
| X | g.78118127G>A | CA413721522 | PGK1 | c.598G>A (p.Ala200Thr) c.514G>A (p.Ala172Thr) n.590G>A | |
| X | g.78118127G>C | CA413721523 | PGK1 | c.598G>C (p.Ala200Pro) c.514G>C (p.Ala172Pro) n.590G>C | |
| X | g.78118127G>T | CA413721524 | PGK1 | c.598G>T (p.Ala200Ser) c.514G>T (p.Ala172Ser) n.590G>T | |
| X | g.78118128C>A | CA413721527 | PGK1 | c.599C>A (p.Ala200Asp) c.515C>A (p.Ala172Asp) n.591C>A | |
| X | g.78118128C= | CA2439138600 | PGK1 | c.599C= (p.Ala200=) c.515C= (p.Ala172=) n.591C= | |
| X | g.78118128C>G | CA413721526 | PGK1 | c.599C>G (p.Ala200Gly) c.515C>G (p.Ala172Gly) n.591C>G | |
| X | g.78118128C>T | CA413721525 | PGK1 | c.599C>T (p.Ala200Val) c.515C>T (p.Ala172Val) n.591C>T | dbSNP gnomAD v4 COSMIC |
| X | g.78118129C>A | CA10459736 | PGK1 | c.600C>A (p.Ala200=) c.516C>A (p.Ala172=) n.592C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78118129C= | CA2439138601 | PGK1 | c.600C= (p.Ala200=) c.516C= (p.Ala172=) n.592C= | |
| X | g.78118129C>G | CA517379944 | PGK1 | c.600C>G (p.Ala200=) c.516C>G (p.Ala172=) n.592C>G | |
| X | g.78118129C>T | CA517379945 | PGK1 | c.600C>T (p.Ala200=) c.516C>T (p.Ala172=) n.592C>T | gnomAD v4 |
| X | g.78118130T>A | CA413721529 | PGK1 | c.601T>A (p.Leu201Met) c.517T>A (p.Leu173Met) n.593T>A | |
| X | g.78118130T>C | CA517379946 | PGK1 | c.601T>C (p.Leu201=) c.517T>C (p.Leu173=) n.593T>C | |
| X | g.78118130T>G | CA413721528 | PGK1 | c.601T>G (p.Leu201Val) c.517T>G (p.Leu173Val) n.593T>G | |
| X | g.78118131T>A | CA413721530 | PGK1 | c.602T>A (p.Leu201Ter) c.518T>A (p.Leu173Ter) n.594T>A | |
| X | g.78118131T>C | CA413721531 | PGK1 | c.602T>C (p.Leu201Ser) c.518T>C (p.Leu173Ser) n.594T>C | |
| X | g.78118131T>G | CA413721532 | PGK1 | c.602T>G (p.Leu201Trp) c.518T>G (p.Leu173Trp) n.594T>G | |
| X | g.78118132G>A | CA517379947 | PGK1 | c.603G>A (p.Leu201=) c.519G>A (p.Leu173=) n.595G>A | |
| X | g.78118132G>C | CA413721533 | PGK1 | c.603G>C (p.Leu201Phe) c.519G>C (p.Leu173Phe) n.595G>C | |
| X | g.78118132G>T | CA413721534 | PGK1 | c.603G>T (p.Leu201Phe) c.519G>T (p.Leu173Phe) n.595G>T | |
| X | g.78118133G>A | CA413721537 | PGK1 | c.604G>A (p.Glu202Lys) c.520G>A (p.Glu174Lys) n.596G>A | |
| X | g.78118133G>C | CA413721535 | PGK1 | c.604G>C (p.Glu202Gln) c.520G>C (p.Glu174Gln) n.596G>C | |
| X | g.78118133G>T | CA413721536 | PGK1 | c.604G>T (p.Glu202Ter) c.520G>T (p.Glu174Ter) n.596G>T | |
| X | g.78118134A>C | CA413721538 | PGK1 | c.605A>C (p.Glu202Ala) c.521A>C (p.Glu174Ala) n.597A>C | |
| X | g.78118134A>G | CA413721539 | PGK1 | c.605A>G (p.Glu202Gly) c.521A>G (p.Glu174Gly) n.597A>G | gnomAD v4 |
| X | g.78118134A>T | CA413721540 | PGK1 | c.605A>T (p.Glu202Val) c.521A>T (p.Glu174Val) n.597A>T | |
| X | g.78118135G>A | CA331585864 | PGK1 | c.606G>A (p.Glu202=) c.522G>A (p.Glu174=) n.598G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118135G>C | CA413721541 | PGK1 | c.606G>C (p.Glu202Asp) c.522G>C (p.Glu174Asp) n.598G>C | gnomAD v4 |
| X | g.78118135G= | CA2439138602 | PGK1 | c.606G= (p.Glu202=) c.522G= (p.Glu174=) n.598G= | |
| X | g.78118135G>T | CA413721542 | PGK1 | c.606G>T (p.Glu202Asp) c.522G>T (p.Glu174Asp) n.598G>T | gnomAD v4 |
| X | g.78118136A>C | CA413721543 | PGK1 | c.607A>C (p.Ser203Arg) c.523A>C (p.Ser175Arg) n.599A>C | |
| X | g.78118136A>G | CA413721545 | PGK1 | c.607A>G (p.Ser203Gly) c.523A>G (p.Ser175Gly) n.599A>G | |
| X | g.78118136A>T | CA413721544 | PGK1 | c.607A>T (p.Ser203Cys) c.523A>T (p.Ser175Cys) n.599A>T | gnomAD v4 |
| X | g.78118137G>A | CA10459737 | PGK1 | c.608G>A (p.Ser203Asn) c.524G>A (p.Ser175Asn) n.600G>A | dbSNP ExAC gnomAD v2 |
| X | g.78118137G>C | CA413721546 | PGK1 | c.608G>C (p.Ser203Thr) c.524G>C (p.Ser175Thr) n.600G>C | |
| X | g.78118137G= | CA2439138603 | PGK1 | c.608G= (p.Ser203=) c.524G= (p.Ser175=) n.600G= | |
| X | g.78118137G>T | CA413721547 | PGK1 | c.608G>T (p.Ser203Ile) c.524G>T (p.Ser175Ile) n.600G>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.78118138C>A | CA413721548 | PGK1 | c.609C>A (p.Ser203Arg) c.525C>A (p.Ser175Arg) n.601C>A | |
| X | g.78118138C>G | CA413721549 | PGK1 | c.609C>G (p.Ser203Arg) c.525C>G (p.Ser175Arg) n.601C>G | |
| X | g.78118138C>T | CA517379949 | PGK1 | c.609C>T (p.Ser203=) c.525C>T (p.Ser175=) n.601C>T | gnomAD v4 |
| X | g.78118139C>A | CA413721550 | PGK1 | c.610C>A (p.Pro204Thr) c.526C>A (p.Pro176Thr) n.602C>A | |
| X | g.78118139C>G | CA413721551 | PGK1 | c.610C>G (p.Pro204Ala) c.526C>G (p.Pro176Ala) n.602C>G | |
| X | g.78118139C>T | CA413721552 | PGK1 | c.610C>T (p.Pro204Ser) c.526C>T (p.Pro176Ser) n.602C>T | |
| X | g.78118140C>A | CA413721553 | PGK1 | c.611C>A (p.Pro204Gln) c.527C>A (p.Pro176Gln) n.603C>A | |
| X | g.78118140C>G | CA413721554 | PGK1 | c.611C>G (p.Pro204Arg) c.527C>G (p.Pro176Arg) n.603C>G | |
| X | g.78118140C>T | CA413721555 | PGK1 | c.611C>T (p.Pro204Leu) c.527C>T (p.Pro176Leu) n.603C>T | |
| X | g.78118141A>C | CA517379950 | PGK1 | c.612A>C (p.Pro204=) c.528A>C (p.Pro176=) n.604A>C | |
| X | g.78118141A>G | CA517379951 | PGK1 | c.612A>G (p.Pro204=) c.528A>G (p.Pro176=) n.604A>G | |
| X | g.78118141A>T | CA517379952 | PGK1 | c.612A>T (p.Pro204=) c.528A>T (p.Pro176=) n.604A>T | |
| X | g.78118142G>A | CA413721556 | PGK1 | c.613G>A (p.Glu205Lys) c.529G>A (p.Glu177Lys) n.605G>A | COSMIC |
| X | g.78118142G>C | CA413721560 | PGK1 | c.613G>C (p.Glu205Gln) c.529G>C (p.Glu177Gln) n.605G>C | |
| X | g.78118142G>T | CA413721558 | PGK1 | c.613G>T (p.Glu205Ter) c.529G>T (p.Glu177Ter) n.605G>T | |
| X | g.78118143A>C | CA413721561 | PGK1 | c.614A>C (p.Glu205Ala) c.530A>C (p.Glu177Ala) n.606A>C | |
| X | g.78118143A>G | CA413721563 | PGK1 | c.614A>G (p.Glu205Gly) c.530A>G (p.Glu177Gly) n.606A>G | |
| X | g.78118143A>T | CA413721565 | PGK1 | c.614A>T (p.Glu205Val) c.530A>T (p.Glu177Val) n.606A>T | |
| X | g.78118144G>A | CA517379961 | PGK1 | c.615G>A (p.Glu205=) c.531G>A (p.Glu177=) n.607G>A | dbSNP |
| X | g.78118144G>C | CA413721566 | PGK1 | c.615G>C (p.Glu205Asp) c.531G>C (p.Glu177Asp) n.607G>C | |
| X | g.78118144G= | CA2439138604 | PGK1 | c.615G= (p.Glu205=) c.531G= (p.Glu177=) n.607G= | |
| X | g.78118144G>T | CA413721568 | PGK1 | c.615G>T (p.Glu205Asp) c.531G>T (p.Glu177Asp) n.607G>T | |
| X | g.78118145C>A | CA517379965 | PGK1 | c.616C>A (p.Arg206=) c.532C>A (p.Arg178=) n.608C>A | |
| X | g.78118145C>G | CA413721570 | PGK1 | c.616C>G (p.Arg206Gly) c.532C>G (p.Arg178Gly) n.608C>G | |
| X | g.78118145C>T | CA413721572 | PGK1 | c.616C>T (p.Arg206Ter) c.532C>T (p.Arg178Ter) n.608C>T | gnomAD v4 |
| X | g.78118146G>A | CA413721573 | PGK1 | c.617G>A (p.Arg206Gln) c.533G>A (p.Arg178Gln) n.609G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.78118146G>C | CA120820 | PGK1 | c.617G>C (p.Arg206Pro) c.533G>C (p.Arg178Pro) n.609G>C | ClinVar dbSNP |
| X | g.78118146G= | CA2439138605 | PGK1 | c.617G= (p.Arg206=) c.533G= (p.Arg178=) n.609G= | |
| X | g.78118146G>T | CA413721575 | PGK1 | c.617G>T (p.Arg206Leu) c.533G>T (p.Arg178Leu) n.609G>T | |
| X | g.78118147A= | CA2439138606 | PGK1 | c.618A= (p.Arg206=) c.534A= (p.Arg178=) n.610A= | |
| X | g.78118147A>C | CA517379973 | PGK1 | c.618A>C (p.Arg206=) c.534A>C (p.Arg178=) n.610A>C | |
| X | g.78118147A>G | CA517379976 | PGK1 | c.618A>G (p.Arg206=) c.534A>G (p.Arg178=) n.610A>G | |
| X | g.78118147A>T | CA517379974 | PGK1 | c.618A>T (p.Arg206=) c.534A>T (p.Arg178=) n.610A>T | dbSNP |
| X | g.78118148C>A | CA413721577 | PGK1 | c.619C>A (p.Pro207Thr) c.535C>A (p.Pro179Thr) n.611C>A | gnomAD v4 |
| X | g.78118148C>G | CA413721579 | PGK1 | c.619C>G (p.Pro207Ala) c.535C>G (p.Pro179Ala) n.611C>G | |
| X | g.78118148C>T | CA413721581 | PGK1 | c.619C>T (p.Pro207Ser) c.535C>T (p.Pro179Ser) n.611C>T | gnomAD v4 |
| X | g.78118149C>A | CA413721582 | PGK1 | c.620C>A (p.Pro207His) c.536C>A (p.Pro179His) n.612C>A | |
| X | g.78118149C= | CA2439138607 | PGK1 | c.620C= (p.Pro207=) c.536C= (p.Pro179=) n.612C= | |
| X | g.78118149C>G | CA413721585 | PGK1 | c.620C>G (p.Pro207Arg) c.536C>G (p.Pro179Arg) n.612C>G | |
| X | g.78118149C>T | CA413721584 | PGK1 | c.620C>T (p.Pro207Leu) c.536C>T (p.Pro179Leu) n.612C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.78118150C>A | CA517379984 | PGK1 | c.621C>A (p.Pro207=) c.537C>A (p.Pro179=) n.613C>A | gnomAD v4 |
| X | g.78118150C>G | CA517379985 | PGK1 | c.621C>G (p.Pro207=) c.537C>G (p.Pro179=) n.613C>G | |
| X | g.78118150C>T | CA517379988 | PGK1 | c.621C>T (p.Pro207=) c.537C>T (p.Pro179=) n.613C>T | |
| X | g.78118151T>A | CA413721588 | PGK1 | c.622T>A (p.Phe208Ile) c.538T>A (p.Phe180Ile) n.614T>A | |
| X | g.78118151T>C | CA413721590 | PGK1 | c.622T>C (p.Phe208Leu) c.538T>C (p.Phe180Leu) n.614T>C | |
| X | g.78118151T>G | CA413721591 | PGK1 | c.622T>G (p.Phe208Val) c.538T>G (p.Phe180Val) n.614T>G | |
| X | g.78118152T>A | CA413721593 | PGK1 | c.623T>A (p.Phe208Tyr) c.539T>A (p.Phe180Tyr) n.615T>A | |
| X | g.78118152T>C | CA413721594 | PGK1 | c.623T>C (p.Phe208Ser) c.539T>C (p.Phe180Ser) n.615T>C | |
| X | g.78118152T>G | CA413721596 | PGK1 | c.623T>G (p.Phe208Cys) c.539T>G (p.Phe180Cys) n.615T>G | |
| X | g.78118153C>A | CA413721598 | PGK1 | c.624C>A (p.Phe208Leu) c.540C>A (p.Phe180Leu) n.616C>A | |
| X | g.78118153C>G | CA413721600 | PGK1 | c.624C>G (p.Phe208Leu) c.540C>G (p.Phe180Leu) n.616C>G | gnomAD v4 |
| X | g.78118153C>T | CA517380002 | PGK1 | c.624C>T (p.Phe208=) c.540C>T (p.Phe180=) n.616C>T | |
| X | g.78118154C>A | CA413721602 | PGK1 | c.625C>A (p.Leu209Met) c.541C>A (p.Leu181Met) n.617C>A | |
| X | g.78118154C= | CA2439138608 | PGK1 | c.625C= (p.Leu209=) c.541C= (p.Leu181=) n.617C= | |
| X | g.78118154C>G | CA413721603 | PGK1 | c.625C>G (p.Leu209Val) c.541C>G (p.Leu181Val) n.617C>G | |
| X | g.78118154C>T | CA517380007 | PGK1 | c.625C>T (p.Leu209=) c.541C>T (p.Leu181=) n.617C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.78118155T>A | CA413721606 | PGK1 | c.626T>A (p.Leu209Gln) c.542T>A (p.Leu181Gln) n.618T>A | gnomAD v4 |
| X | g.78118155T>C | CA413721608 | PGK1 | c.626T>C (p.Leu209Pro) c.542T>C (p.Leu181Pro) n.618T>C | |
| X | g.78118155T>G | CA413721605 | PGK1 | c.626T>G (p.Leu209Arg) c.542T>G (p.Leu181Arg) n.618T>G | |
| X | g.78118156G>A | CA517380015 | PGK1 | c.627G>A (p.Leu209=) c.543G>A (p.Leu181=) n.619G>A | |
| X | g.78118156G>C | CA517380016 | PGK1 | c.627G>C (p.Leu209=) c.543G>C (p.Leu181=) n.619G>C | |
| X | g.78118156G>T | CA517380020 | PGK1 | c.627G>T (p.Leu209=) c.543G>T (p.Leu181=) n.619G>T | COSMIC |
| X | g.78118157G>A | CA413721614 | PGK1 | c.628G>A (p.Ala210Thr) c.544G>A (p.Ala182Thr) n.620G>A | |
| X | g.78118157G>C | CA413721611 | PGK1 | c.628G>C (p.Ala210Pro) c.544G>C (p.Ala182Pro) n.620G>C | |
| X | g.78118157G>T | CA413721612 | PGK1 | c.628G>T (p.Ala210Ser) c.544G>T (p.Ala182Ser) n.620G>T | |
| X | g.78118158C>A | CA413721616 | PGK1 | c.629C>A (p.Ala210Asp) c.545C>A (p.Ala182Asp) n.621C>A | |
| X | g.78118158C>G | CA413721618 | PGK1 | c.629C>G (p.Ala210Gly) c.545C>G (p.Ala182Gly) n.621C>G | |
| X | g.78118158C>T | CA413721619 | PGK1 | c.629C>T (p.Ala210Val) c.545C>T (p.Ala182Val) n.621C>T | |
| X | g.78118159C>A | CA517380028 | PGK1 | c.630C>A (p.Ala210=) c.546C>A (p.Ala182=) n.622C>A | |
| X | g.78118159C>G | CA517380029 | PGK1 | c.630C>G (p.Ala210=) c.546C>G (p.Ala182=) n.622C>G | |
| X | g.78118159C>T | CA517380032 | PGK1 | c.630C>T (p.Ala210=) c.546C>T (p.Ala182=) n.622C>T | |
| X | g.78118160A>C | CA413721622 | PGK1 | c.631A>C (p.Ile211Leu) c.547A>C (p.Ile183Leu) n.623A>C | |
| X | g.78118160A>G | CA413721623 | PGK1 | c.631A>G (p.Ile211Val) c.547A>G (p.Ile183Val) n.623A>G | gnomAD v4 |
| X | g.78118160A>T | CA413721625 | PGK1 | c.631A>T (p.Ile211Phe) c.547A>T (p.Ile183Phe) n.623A>T | |
| X | g.78118161T>A | CA413721627 | PGK1 | c.632T>A (p.Ile211Asn) c.548T>A (p.Ile183Asn) n.624T>A | |
| X | g.78118161T>C | CA413721628 | PGK1 | c.632T>C (p.Ile211Thr) c.548T>C (p.Ile183Thr) n.624T>C | |
| X | g.78118161T>G | CA413721630 | PGK1 | c.632T>G (p.Ile211Ser) c.548T>G (p.Ile183Ser) n.624T>G | |
| X | g.78118162C>A | CA517380038 | PGK1 | c.633C>A (p.Ile211=) c.549C>A (p.Ile183=) n.625C>A | |
| X | g.78118162C>G | CA413721633 | PGK1 | c.633C>G (p.Ile211Met) c.549C>G (p.Ile183Met) n.625C>G | |
| X | g.78118162C>T | CA517380041 | PGK1 | c.633C>T (p.Ile211=) c.549C>T (p.Ile183=) n.625C>T | |
| X | g.78118163C>A | CA413721636 | PGK1 | c.634C>A (p.Leu212Met) c.550C>A (p.Leu184Met) n.626C>A | |
| X | g.78118163C>G | CA413721634 | PGK1 | c.634C>G (p.Leu212Val) c.550C>G (p.Leu184Val) n.626C>G | gnomAD v4 |
| X | g.78118163C>T | CA517380047 | PGK1 | c.634C>T (p.Leu212=) c.550C>T (p.Leu184=) n.626C>T | |
| X | g.78118164T>A | CA413721638 | PGK1 | c.635T>A (p.Leu212Gln) c.551T>A (p.Leu184Gln) n.627T>A | |
| X | g.78118164T>C | CA413721640 | PGK1 | c.635T>C (p.Leu212Pro) c.551T>C (p.Leu184Pro) n.627T>C | |
| X | g.78118164T>G | CA413721641 | PGK1 | c.635T>G (p.Leu212Arg) c.551T>G (p.Leu184Arg) n.627T>G | |
| X | g.78118165G>A | CA517380052 | PGK1 | c.636G>A (p.Leu212=) c.552G>A (p.Leu184=) n.628G>A | gnomAD v4 |
| X | g.78118165G>C | CA517380054 | PGK1 | c.636G>C (p.Leu212=) c.552G>C (p.Leu184=) n.628G>C | |
| X | g.78118165G>T | CA517380056 | PGK1 | c.636G>T (p.Leu212=) c.552G>T (p.Leu184=) n.628G>T | |
| X | g.78118168_78118171del | CA2695234624 | PGK1 | c.639_641+1del c.555_557+1del n.631_633+1del | |
| X | g.78118166G>A | CA413721642 | PGK1 | c.637G>A (p.Gly213Ser) c.553G>A (p.Gly185Ser) n.629G>A | |
| X | g.78118166G>C | CA413721644 | PGK1 | c.637G>C (p.Gly213Arg) c.553G>C (p.Gly185Arg) n.629G>C | |
| X | g.78118166G>T | CA413721646 | PGK1 | c.637G>T (p.Gly213Cys) c.553G>T (p.Gly185Cys) n.629G>T | |
| X | g.78118168_78118170del | CA2694155917 | PGK1 | c.639_641del (p.Gly214del) c.555_557del (p.Gly186del) n.631_633del | gnomAD v4 |
| X | g.78118167G>A | CA413721648 | PGK1 | c.638G>A (p.Gly213Asp) c.554G>A (p.Gly185Asp) n.630G>A | |
| X | g.78118167G>C | CA413721649 | PGK1 | c.638G>C (p.Gly213Ala) c.554G>C (p.Gly185Ala) n.630G>C | |
| X | g.78118167G>T | CA413721651 | PGK1 | c.638G>T (p.Gly213Val) c.554G>T (p.Gly185Val) n.630G>T | |
| X | g.78118168C>A | CA517380077 | PGK1 | c.639C>A (p.Gly213=) c.555C>A (p.Gly185=) n.631C>A | |
| X | g.78118168C= | CA2439138609 | PGK1 | c.639C= (p.Gly213=) c.555C= (p.Gly185=) n.631C= | |
| X | g.78118168C>G | CA517380079 | PGK1 | c.639C>G (p.Gly213=) c.555C>G (p.Gly185=) n.631C>G | |
| X | g.78118168C>T | CA234548 | PGK1 | c.639C>T (p.Gly213=) c.555C>T (p.Gly185=) n.631C>T | ClinVar dbSNP |