| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.78118027C= | CA2439138571 | PGK1 | c.522-24C= (n.522-24C=) c.438-24C= (n.438-24C=) n.514-24C= | |
| X | g.78118027C>T | CA10459725 | PGK1 | c.522-24C>T (n.522-24C>T) c.438-24C>T (n.438-24C>T) n.514-24C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118028T>C | CA2694155907 | PGK1 | c.522-23T>C (n.522-23T>C) c.438-23T>C (n.438-23T>C) n.514-23T>C | gnomAD v4 |
| X | g.78118029G>A | CA2694155908 | PGK1 | c.522-22G>A (n.522-22G>A) c.438-22G>A (n.438-22G>A) n.514-22G>A | gnomAD v4 |
| X | g.78118029G>C | CA2545880773 | PGK1 | c.522-22G>C (n.522-22G>C) c.438-22G>C (n.438-22G>C) n.514-22G>C | gnomAD v4 |
| X | g.78118029G= | CA2439138572 | PGK1 | c.522-22G= (n.522-22G=) c.438-22G= (n.438-22G=) n.514-22G= | |
| X | g.78118029G>T | CA642709312 | PGK1 | c.522-22G>T (n.522-22G>T) c.438-22G>T (n.438-22G>T) n.514-22G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118030A>G | CA2694155909 | PGK1 | c.522-21A>G (n.522-21A>G) c.438-21A>G (n.438-21A>G) n.514-21A>G | gnomAD v4 |
| X | g.78118031A>G | CA2694155910 | PGK1 | c.522-20A>G (n.522-20A>G) c.438-20A>G (n.438-20A>G) n.514-20A>G | gnomAD v4 |
| X | g.78118032T>C | CA10459726 | PGK1 | c.522-19T>C (n.522-19T>C) c.438-19T>C (n.438-19T>C) n.514-19T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78118032T= | CA2439138573 | PGK1 | c.522-19T= (n.522-19T=) c.438-19T= (n.438-19T=) n.514-19T= | |
| X | g.78118035C>A | CA2694155911 | PGK1 | c.522-16C>A (n.522-16C>A) c.438-16C>A (n.438-16C>A) n.514-16C>A | gnomAD v4 |
| X | g.78118036T>A | CA2579650762 | PGK1 | c.522-15T>A (n.522-15T>A) c.438-15T>A (n.438-15T>A) n.514-15T>A | |
| X | g.78118036T>C | CA2694155912 | PGK1 | c.522-15T>C (n.522-15T>C) c.438-15T>C (n.438-15T>C) n.514-15T>C | gnomAD v4 |
| X | g.78118037T>C | CA2694155913 | PGK1 | c.522-14T>C (n.522-14T>C) c.438-14T>C (n.438-14T>C) n.514-14T>C | gnomAD v4 |
| X | g.78118037T>G | CA2579650763 | PGK1 | c.522-14T>G (n.522-14T>G) c.438-14T>G (n.438-14T>G) n.514-14T>G | |
| X | g.78118039G>C | CA1134521267 | PGK1 | c.522-12G>C (n.522-12G>C) c.438-12G>C (n.438-12G>C) n.514-12G>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.78118039G= | CA2439138574 | PGK1 | c.522-12G= (n.522-12G=) c.438-12G= (n.438-12G=) n.514-12G= | |
| X | g.78118039G>T | CA2530120125 | PGK1 | c.522-12G>T (n.522-12G>T) c.438-12G>T (n.438-12G>T) n.514-12G>T | |
| X | g.78118041T>A | CA2439138576 | PGK1 | c.522-10T>A (n.522-10T>A) c.438-10T>A (n.438-10T>A) n.514-10T>A | dbSNP |
| X | g.78118041T= | CA2439138575 | PGK1 | c.522-10T= (n.522-10T=) c.438-10T= (n.438-10T=) n.514-10T= | |
| X | g.78118042C>A | CA2579650764 | PGK1 | c.522-9C>A (n.522-9C>A) c.438-9C>A (n.438-9C>A) n.514-9C>A | gnomAD v4 |
| X | g.78118042C= | CA2439138577 | PGK1 | c.522-9C= (n.522-9C=) c.438-9C= (n.438-9C=) n.514-9C= | |
| X | g.78118042C>G | CA642709313 | PGK1 | c.522-9C>G (n.522-9C>G) c.438-9C>G (n.438-9C>G) n.514-9C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118046del | CA2694155914 | PGK1 | c.522-5del (n.522-5del) c.438-5del (n.438-5del) n.514-5del | gnomAD v4 |
| X | g.78118047C>T | CA2694155915 | PGK1 | c.522-4C>T (n.522-4C>T) c.438-4C>T (n.438-4C>T) n.514-4C>T | gnomAD v4 |
| X | g.78118048T>C | CA517379884 | PGK1 | c.522-3T>C (n.522-3T>C) c.438-3T>C (n.438-3T>C) n.514-3T>C | dbSNP |
| X | g.78118048T= | CA2439138578 | PGK1 | c.522-3T= (n.522-3T=) c.438-3T= (n.438-3T=) n.514-3T= | |
| X | g.78118049A>C | CA413721344 | PGK1 | c.522-2A>C (n.522-2A>C) c.438-2A>C (n.438-2A>C) n.514-2A>C | |
| X | g.78118049A>G | CA413721345 | PGK1 | c.522-2A>G (n.522-2A>G) c.438-2A>G (n.438-2A>G) n.514-2A>G | gnomAD v4 |
| X | g.78118049A>T | CA413721346 | PGK1 | c.522-2A>T (n.522-2A>T) c.438-2A>T (n.438-2A>T) n.514-2A>T | |
| X | g.78118050G>A | CA413721347 | PGK1 | c.522-1G>A (n.522-1G>A) c.438-1G>A (n.438-1G>A) n.514-1G>A | |
| X | g.78118050G>C | CA413721348 | PGK1 | c.522-1G>C (n.522-1G>C) c.438-1G>C (n.438-1G>C) n.514-1G>C | |
| X | g.78118050G>T | CA413721349 | PGK1 | c.522-1G>T (n.522-1G>T) c.438-1G>T (n.438-1G>T) n.514-1G>T | COSMIC |
| X | g.78118051C>A | CA413721350 | PGK1 | c.522C>A (p.Ser174Arg) c.438C>A (p.Ser146Arg) n.514C>A | gnomAD v4 |
| X | g.78118051C= | CA2439138579 | PGK1 | c.522C= (p.Ser174=) c.438C= (p.Ser146=) n.514C= | |
| X | g.78118051C>G | CA413721351 | PGK1 | c.522C>G (p.Ser174Arg) c.438C>G (p.Ser146Arg) n.514C>G | |
| X | g.78118051C>T | CA10459727 | PGK1 | c.522C>T (p.Ser174=) c.438C>T (p.Ser146=) n.514C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118052T>A | CA413721352 | PGK1 | c.523T>A (p.Ser175Thr) c.439T>A (p.Ser147Thr) n.515T>A | |
| X | g.78118052T>C | CA413721353 | PGK1 | c.523T>C (p.Ser175Pro) c.439T>C (p.Ser147Pro) n.515T>C | |
| X | g.78118052T>G | CA413721354 | PGK1 | c.523T>G (p.Ser175Ala) c.439T>G (p.Ser147Ala) n.515T>G | |
| X | g.78118053C>A | CA413721357 | PGK1 | c.524C>A (p.Ser175Tyr) c.440C>A (p.Ser147Tyr) n.516C>A | |
| X | g.78118053C>G | CA413721356 | PGK1 | c.524C>G (p.Ser175Cys) c.440C>G (p.Ser147Cys) n.516C>G | |
| X | g.78118053C>T | CA413721355 | PGK1 | c.524C>T (p.Ser175Phe) c.440C>T (p.Ser147Phe) n.516C>T | |
| X | g.78118054del | CA2579650765 | PGK1 | c.525del (p.Met176TrpfsTer2) c.441del (p.Met148TrpfsTer2) n.517del | |
| X | g.78118054C>A | CA517379887 | PGK1 | c.525C>A (p.Ser175=) c.441C>A (p.Ser147=) n.517C>A | |
| X | g.78118054C= | CA2439138580 | PGK1 | c.525C= (p.Ser175=) c.441C= (p.Ser147=) n.517C= | |
| X | g.78118054C>G | CA517379886 | PGK1 | c.525C>G (p.Ser175=) c.441C>G (p.Ser147=) n.517C>G | |
| X | g.78118054C>T | CA517379885 | PGK1 | c.525C>T (p.Ser175=) c.441C>T (p.Ser147=) n.517C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118055A= | CA2439138581 | PGK1 | c.526A= (p.Met176=) c.442A= (p.Met148=) n.518A= | |
| X | g.78118055A>C | CA413721358 | PGK1 | c.526A>C (p.Met176Leu) c.442A>C (p.Met148Leu) n.518A>C | |
| X | g.78118055A>G | CA10459728 | PGK1 | c.526A>G (p.Met176Val) c.442A>G (p.Met148Val) n.518A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78118055A>T | CA413721359 | PGK1 | c.526A>T (p.Met176Leu) c.442A>T (p.Met148Leu) n.518A>T | |
| X | g.78118056T>A | CA413721360 | PGK1 | c.527T>A (p.Met176Lys) c.443T>A (p.Met148Lys) n.519T>A | |
| X | g.78118056T>C | CA413721361 | PGK1 | c.527T>C (p.Met176Thr) c.443T>C (p.Met148Thr) n.519T>C | |
| X | g.78118056T>G | CA413721362 | PGK1 | c.527T>G (p.Met176Arg) c.443T>G (p.Met148Arg) n.519T>G | |
| X | g.78118057G>A | CA413721363 | PGK1 | c.528G>A (p.Met176Ile) c.444G>A (p.Met148Ile) n.520G>A | |
| X | g.78118057G>C | CA413721364 | PGK1 | c.528G>C (p.Met176Ile) c.444G>C (p.Met148Ile) n.520G>C | |
| X | g.78118057G>T | CA413721365 | PGK1 | c.528G>T (p.Met176Ile) c.444G>T (p.Met148Ile) n.520G>T | |
| X | g.78118058G>A | CA413721366 | PGK1 | c.529G>A (p.Val177Ile) c.445G>A (p.Val149Ile) n.521G>A | |
| X | g.78118058G>C | CA413721367 | PGK1 | c.529G>C (p.Val177Leu) c.445G>C (p.Val149Leu) n.521G>C | |
| X | g.78118058G>T | CA413721368 | PGK1 | c.529G>T (p.Val177Leu) c.445G>T (p.Val149Leu) n.521G>T | |
| X | g.78118059T>A | CA413721371 | PGK1 | c.530T>A (p.Val177Glu) c.446T>A (p.Val149Glu) n.522T>A | |
| X | g.78118059T>C | CA413721370 | PGK1 | c.530T>C (p.Val177Ala) c.446T>C (p.Val149Ala) n.522T>C | |
| X | g.78118059T>G | CA413721369 | PGK1 | c.530T>G (p.Val177Gly) c.446T>G (p.Val149Gly) n.522T>G | |
| X | g.78118060A= | CA2439138582 | PGK1 | c.531A= (p.Val177=) c.447A= (p.Val149=) n.523A= | |
| X | g.78118060A>C | CA517379890 | PGK1 | c.531A>C (p.Val177=) c.447A>C (p.Val149=) n.523A>C | |
| X | g.78118060A>G | CA517379891 | PGK1 | c.531A>G (p.Val177=) c.447A>G (p.Val149=) n.523A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78118060A>T | CA517379892 | PGK1 | c.531A>T (p.Val177=) c.447A>T (p.Val149=) n.523A>T | |
| X | g.78118062_78118064del | CA2694155916 | PGK1 | c.533_535del (p.Gly178del) c.449_451del (p.Gly150del) n.525_527del | gnomAD v4 |
| X | g.78118061G>A | CA413721372 | PGK1 | c.532G>A (p.Gly178Arg) c.448G>A (p.Gly150Arg) n.524G>A | gnomAD v4 |
| X | g.78118061G>C | CA413721373 | PGK1 | c.532G>C (p.Gly178Arg) c.448G>C (p.Gly150Arg) n.524G>C | |
| X | g.78118061G>T | CA413721374 | PGK1 | c.532G>T (p.Gly178Ter) c.448G>T (p.Gly150Ter) n.524G>T | |
| X | g.78118062G>A | CA413721375 | PGK1 | c.533G>A (p.Gly178Glu) c.449G>A (p.Gly150Glu) n.525G>A | |
| X | g.78118062G>C | CA413721376 | PGK1 | c.533G>C (p.Gly178Ala) c.449G>C (p.Gly150Ala) n.525G>C | |
| X | g.78118062G>T | CA413721377 | PGK1 | c.533G>T (p.Gly178Val) c.449G>T (p.Gly150Val) n.525G>T | |
| X | g.78118063A= | CA2439138583 | PGK1 | c.534A= (p.Gly178=) c.450A= (p.Gly150=) n.526A= | |
| X | g.78118063A>C | CA517379893 | PGK1 | c.534A>C (p.Gly178=) c.450A>C (p.Gly150=) n.526A>C | dbSNP |
| X | g.78118063A>G | CA517379894 | PGK1 | c.534A>G (p.Gly178=) c.450A>G (p.Gly150=) n.526A>G | gnomAD v4 |
| X | g.78118063A>T | CA517379895 | PGK1 | c.534A>T (p.Gly178=) c.450A>T (p.Gly150=) n.526A>T | |
| X | g.78118064G>A | CA413721378 | PGK1 | c.535G>A (p.Val179Ile) c.451G>A (p.Val151Ile) n.527G>A | |
| X | g.78118064G>C | CA413721379 | PGK1 | c.535G>C (p.Val179Leu) c.451G>C (p.Val151Leu) n.527G>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.78118064G= | CA2439138584 | PGK1 | c.535G= (p.Val179=) c.451G= (p.Val151=) n.527G= | |
| X | g.78118064G>T | CA413721380 | PGK1 | c.535G>T (p.Val179Phe) c.451G>T (p.Val151Phe) n.527G>T | |
| X | g.78118065T>A | CA413721381 | PGK1 | c.536T>A (p.Val179Asp) c.452T>A (p.Val151Asp) n.528T>A | |
| X | g.78118065T>C | CA413721382 | PGK1 | c.536T>C (p.Val179Ala) c.452T>C (p.Val151Ala) n.528T>C | gnomAD v4 |
| X | g.78118065T>G | CA413721383 | PGK1 | c.536T>G (p.Val179Gly) c.452T>G (p.Val151Gly) n.528T>G | |
| X | g.78118066C>A | CA517379897 | PGK1 | c.537C>A (p.Val179=) c.453C>A (p.Val151=) n.529C>A | |
| X | g.78118066C>G | CA517379898 | PGK1 | c.537C>G (p.Val179=) c.453C>G (p.Val151=) n.529C>G | |
| X | g.78118066C>T | CA517379899 | PGK1 | c.537C>T (p.Val179=) c.453C>T (p.Val151=) n.529C>T | |
| X | g.78118067A>C | CA413721385 | PGK1 | c.538A>C (p.Asn180His) c.454A>C (p.Asn152His) n.530A>C | |
| X | g.78118067A>G | CA413721386 | PGK1 | c.538A>G (p.Asn180Asp) c.454A>G (p.Asn152Asp) n.530A>G | |
| X | g.78118067A>T | CA413721384 | PGK1 | c.538A>T (p.Asn180Tyr) c.454A>T (p.Asn152Tyr) n.530A>T | |
| 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 |