| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.78123240G>A | CA120818 | PGK1 | c.802G>A (p.Asp268Asn) c.718G>A (p.Asp240Asn) n.209G>A | ClinVar dbSNP |
| X | g.78123240G>C | CA413716434 | PGK1 | c.802G>C (p.Asp268His) c.718G>C (p.Asp240His) n.209G>C | |
| X | g.78123240G= | CA2439140501 | PGK1 | c.802G= (p.Asp268=) c.718G= (p.Asp240=) n.209G= | |
| X | g.78123240G>T | CA413716435 | PGK1 | c.802G>T (p.Asp268Tyr) c.718G>T (p.Asp240Tyr) n.209G>T | COSMIC |
| X | g.78123241A>C | CA413716442 | PGK1 | c.803A>C (p.Asp268Ala) c.719A>C (p.Asp240Ala) n.210A>C | |
| X | g.78123241A>G | CA413716437 | PGK1 | c.803A>G (p.Asp268Gly) c.719A>G (p.Asp240Gly) n.210A>G | |
| X | g.78123241A>T | CA413716440 | PGK1 | c.803A>T (p.Asp268Val) c.719A>T (p.Asp240Val) n.210A>T | |
| X | g.78123242C>A | CA413716444 | PGK1 | c.804C>A (p.Asp268Glu) c.720C>A (p.Asp240Glu) n.211C>A | |
| X | g.78123242C>G | CA413716446 | PGK1 | c.804C>G (p.Asp268Glu) c.720C>G (p.Asp240Glu) n.211C>G | |
| X | g.78123242C>T | CA517380781 | PGK1 | c.804C>T (p.Asp268=) c.720C>T (p.Asp240=) n.211C>T | |
| X | g.78123243C>A | CA413716449 | PGK1 | c.805C>A (p.Leu269Ile) c.721C>A (p.Leu241Ile) n.212C>A | |
| X | g.78123243C= | CA2439140502 | PGK1 | c.805C= (p.Leu269=) c.721C= (p.Leu241=) n.212C= | |
| X | g.78123243C>G | CA413716451 | PGK1 | c.805C>G (p.Leu269Val) c.721C>G (p.Leu241Val) n.212C>G | |
| X | g.78123243C>T | CA517380782 | PGK1 | c.805C>T (p.Leu269=) c.721C>T (p.Leu241=) n.212C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.78123244T>A | CA413716454 | PGK1 | c.806T>A (p.Leu269Gln) c.722T>A (p.Leu241Gln) n.213T>A | |
| X | g.78123244T>C | CA413716456 | PGK1 | c.806T>C (p.Leu269Pro) c.722T>C (p.Leu241Pro) n.213T>C | gnomAD v4 |
| X | g.78123244T>G | CA413716459 | PGK1 | c.806T>G (p.Leu269Arg) c.722T>G (p.Leu241Arg) n.213T>G | ClinVar dbSNP gnomAD v4 |
| X | g.78123244T= | CA2439140503 | PGK1 | c.806T= (p.Leu269=) c.722T= (p.Leu241=) n.213T= | |
| X | g.78123245A>C | CA517380783 | PGK1 | c.807A>C (p.Leu269=) c.723A>C (p.Leu241=) n.214A>C | |
| X | g.78123245A>G | CA517380784 | PGK1 | c.807A>G (p.Leu269=) c.723A>G (p.Leu241=) n.214A>G | gnomAD v4 |
| X | g.78123245A>T | CA517380785 | PGK1 | c.807A>T (p.Leu269=) c.723A>T (p.Leu241=) n.214A>T | |
| X | g.78123246A>C | CA413716460 | PGK1 | c.808A>C (p.Met270Leu) c.724A>C (p.Met242Leu) n.215A>C | |
| X | g.78123246A>G | CA413716461 | PGK1 | c.808A>G (p.Met270Val) c.724A>G (p.Met242Val) n.215A>G | |
| X | g.78123246A>T | CA413716462 | PGK1 | c.808A>T (p.Met270Leu) c.724A>T (p.Met242Leu) n.215A>T | |
| X | g.78123247T>A | CA413716465 | PGK1 | c.809T>A (p.Met270Lys) c.725T>A (p.Met242Lys) n.216T>A | |
| X | g.78123247T>C | CA10459771 | PGK1 | c.809T>C (p.Met270Thr) c.725T>C (p.Met242Thr) n.216T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78123247T>G | CA413716470 | PGK1 | c.809T>G (p.Met270Arg) c.725T>G (p.Met242Arg) n.216T>G | |
| X | g.78123247T= | CA2439140504 | PGK1 | c.809T= (p.Met270=) c.725T= (p.Met242=) n.216T= | |
| X | g.78123248G>A | CA413716473 | PGK1 | c.810G>A (p.Met270Ile) c.726G>A (p.Met242Ile) n.217G>A | gnomAD v4 |
| X | g.78123248G>C | CA413716477 | PGK1 | c.810G>C (p.Met270Ile) c.726G>C (p.Met242Ile) n.217G>C | |
| X | g.78123248G>T | CA413716474 | PGK1 | c.810G>T (p.Met270Ile) c.726G>T (p.Met242Ile) n.217G>T | |
| X | g.78123249T>A | CA10459772 | PGK1 | c.811T>A (p.Ser271Thr) c.727T>A (p.Ser243Thr) n.218T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78123249T>C | CA413716484 | PGK1 | c.811T>C (p.Ser271Pro) c.727T>C (p.Ser243Pro) n.218T>C | COSMIC |
| X | g.78123249T>G | CA413716482 | PGK1 | c.811T>G (p.Ser271Ala) c.727T>G (p.Ser243Ala) n.218T>G | |
| X | g.78123249T= | CA2439140505 | PGK1 | c.811T= (p.Ser271=) c.727T= (p.Ser243=) n.218T= | |
| X | g.78123250C>A | CA413716487 | PGK1 | c.812C>A (p.Ser271Tyr) c.728C>A (p.Ser243Tyr) n.219C>A | |
| X | g.78123250C>G | CA413716489 | PGK1 | c.812C>G (p.Ser271Cys) c.728C>G (p.Ser243Cys) n.219C>G | |
| X | g.78123250C>T | CA413716491 | PGK1 | c.812C>T (p.Ser271Phe) c.728C>T (p.Ser243Phe) n.219C>T | |
| X | g.78123251C>A | CA517380786 | PGK1 | c.813C>A (p.Ser271=) c.729C>A (p.Ser243=) n.220C>A | |
| X | g.78123251C>G | CA517380787 | PGK1 | c.813C>G (p.Ser271=) c.729C>G (p.Ser243=) n.220C>G | |
| X | g.78123251C>T | CA517380788 | PGK1 | c.813C>T (p.Ser271=) c.729C>T (p.Ser243=) n.220C>T | |
| X | g.78123252A>C | CA413716494 | PGK1 | c.814A>C (p.Lys272Gln) c.730A>C (p.Lys244Gln) n.221A>C | |
| X | g.78123252A>G | CA413716496 | PGK1 | c.814A>G (p.Lys272Glu) c.730A>G (p.Lys244Glu) n.221A>G | |
| X | g.78123252A>T | CA413716498 | PGK1 | c.814A>T (p.Lys272Ter) c.730A>T (p.Lys244Ter) n.221A>T | |
| X | g.78123254del | CA2579650845 | PGK1 | c.816del (p.Ala273LeufsTer6) c.732del (p.Ala245LeufsTer6) n.223del | |
| X | g.78123253A= | CA2439140506 | PGK1 | c.815A= (p.Lys272=) c.731A= (p.Lys244=) n.222A= | |
| X | g.78123253A>C | CA413716500 | PGK1 | c.815A>C (p.Lys272Thr) c.731A>C (p.Lys244Thr) n.222A>C | |
| X | g.78123253A>G | CA10459773 | PGK1 | c.815A>G (p.Lys272Arg) c.731A>G (p.Lys244Arg) n.222A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78123253A>T | CA413716502 | PGK1 | c.815A>T (p.Lys272Ile) c.731A>T (p.Lys244Ile) n.222A>T | |
| X | g.78123254A>C | CA413716505 | PGK1 | c.816A>C (p.Lys272Asn) c.732A>C (p.Lys244Asn) n.223A>C |