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.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 | |
| X | g.78123254A>G | CA517380789 | PGK1 | c.816A>G (p.Lys272=) c.732A>G (p.Lys244=) n.223A>G | gnomAD v3 gnomAD v4 |
| X | g.78123254A>T | CA413716507 | PGK1 | c.816A>T (p.Lys272Asn) c.732A>T (p.Lys244Asn) n.223A>T | |
| X | g.78123255G>A | CA413716516 | PGK1 | c.817G>A (p.Ala273Thr) c.733G>A (p.Ala245Thr) n.224G>A | |
| X | g.78123255G>C | CA413716513 | PGK1 | c.817G>C (p.Ala273Pro) c.733G>C (p.Ala245Pro) n.224G>C | |
| X | g.78123255G>T | CA413716510 | PGK1 | c.817G>T (p.Ala273Ser) c.733G>T (p.Ala245Ser) n.224G>T | |
| X | g.78123256C>A | CA413716520 | PGK1 | c.818C>A (p.Ala273Asp) c.734C>A (p.Ala245Asp) n.225C>A | |
| X | g.78123256C>G | CA413716522 | PGK1 | c.818C>G (p.Ala273Gly) c.734C>G (p.Ala245Gly) n.225C>G | |
| X | g.78123256C>T | CA413716526 | PGK1 | c.818C>T (p.Ala273Val) c.734C>T (p.Ala245Val) n.225C>T | |
| X | g.78123257T>A | CA517380790 | PGK1 | c.819T>A (p.Ala273=) c.735T>A (p.Ala245=) n.226T>A | |
| X | g.78123257T>C | CA331586157 | PGK1 | c.819T>C (p.Ala273=) c.735T>C (p.Ala245=) n.226T>C | dbSNP |
| X | g.78123257T>G | CA517380791 | PGK1 | c.819T>G (p.Ala273=) c.735T>G (p.Ala245=) n.226T>G | |
| X | g.78123257T= | CA2439140507 | PGK1 | c.819T= (p.Ala273=) c.735T= (p.Ala245=) n.226T= | |
| X | g.78123258G>A | CA413716531 | PGK1 | c.820G>A (p.Glu274Lys) c.736G>A (p.Glu246Lys) n.227G>A | |
| X | g.78123258G>C | CA413716532 | PGK1 | c.820G>C (p.Glu274Gln) c.736G>C (p.Glu246Gln) n.227G>C | |
| X | g.78123258G>T | CA413716535 | PGK1 | c.820G>T (p.Glu274Ter) c.736G>T (p.Glu246Ter) n.227G>T | |
| X | g.78123259A>C | CA413716538 | PGK1 | c.821A>C (p.Glu274Ala) c.737A>C (p.Glu246Ala) n.228A>C | gnomAD v4 |
| X | g.78123259A>G | CA413716541 | PGK1 | c.821A>G (p.Glu274Gly) c.737A>G (p.Glu246Gly) n.228A>G | ClinVar |
| X | g.78123259A>T | CA413716543 | PGK1 | c.821A>T (p.Glu274Val) c.737A>T (p.Glu246Val) n.228A>T | |
| X | g.78123260G>A | CA517380793 | PGK1 | c.822G>A (p.Glu274=) c.738G>A (p.Glu246=) n.229G>A | |
| X | g.78123260G>C | CA413716546 | PGK1 | c.822G>C (p.Glu274Asp) c.738G>C (p.Glu246Asp) n.229G>C | |
| X | g.78123260G>T | CA413716548 | PGK1 | c.822G>T (p.Glu274Asp) c.738G>T (p.Glu246Asp) n.229G>T | |
| X | g.78123261A= | CA2439140508 | PGK1 | c.823A= (p.Lys275=) c.739A= (p.Lys247=) n.230A= | |
| X | g.78123261A>C | CA413716554 | PGK1 | c.823A>C (p.Lys275Gln) c.739A>C (p.Lys247Gln) n.230A>C | |
| X | g.78123261A>G | CA413716553 | PGK1 | c.823A>G (p.Lys275Glu) c.739A>G (p.Lys247Glu) n.230A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.78123261A>T | CA413716551 | PGK1 | c.823A>T (p.Lys275Ter) c.739A>T (p.Lys247Ter) n.230A>T | |
| X | g.78123262A= | CA2439140509 | PGK1 | c.824A= (p.Lys275=) c.740A= (p.Lys247=) n.231A= | |
| X | g.78123262A>C | CA413716556 | PGK1 | c.824A>C (p.Lys275Thr) c.740A>C (p.Lys247Thr) n.231A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.78123262A>G | CA413716558 | PGK1 | c.824A>G (p.Lys275Arg) c.740A>G (p.Lys247Arg) n.231A>G | |
| X | g.78123262A>T | CA413716560 | PGK1 | c.824A>T (p.Lys275Met) c.740A>T (p.Lys247Met) n.231A>T | |
| X | g.78123263G>A | CA517380794 | PGK1 | c.825G>A (p.Lys275=) c.741G>A (p.Lys247=) n.232G>A | |
| X | g.78123263G>C | CA413716561 | PGK1 | c.825G>C (p.Lys275Asn) c.741G>C (p.Lys247Asn) n.232G>C | |
| X | g.78123263G>T | CA413716563 | PGK1 | c.825G>T (p.Lys275Asn) c.741G>T (p.Lys247Asn) n.232G>T | |
| X | g.78123264A>C | CA413716565 | PGK1 | c.826A>C (p.Asn276His) c.742A>C (p.Asn248His) n.233A>C | |
| X | g.78123264A>G | CA413716567 | PGK1 | c.826A>G (p.Asn276Asp) c.742A>G (p.Asn248Asp) n.233A>G | |
| X | g.78123264A>T | CA413716568 | PGK1 | c.826A>T (p.Asn276Tyr) c.742A>T (p.Asn248Tyr) n.233A>T | COSMIC |
| X | g.78123265A>C | CA413716570 | PGK1 | c.827A>C (p.Asn276Thr) c.743A>C (p.Asn248Thr) n.234A>C | |
| X | g.78123265A>G | CA413716572 | PGK1 | c.827A>G (p.Asn276Ser) c.743A>G (p.Asn248Ser) n.234A>G | |
| X | g.78123265A>T | CA413716574 | PGK1 | c.827A>T (p.Asn276Ile) c.743A>T (p.Asn248Ile) n.234A>T | |
| X | g.78123266T>A | CA413716576 | PGK1 | c.828T>A (p.Asn276Lys) c.744T>A (p.Asn248Lys) n.235T>A | |
| X | g.78123266T>C | CA517380795 | PGK1 | c.828T>C (p.Asn276=) c.744T>C (p.Asn248=) n.235T>C | gnomAD v4 |
| X | g.78123266T>G | CA413716578 | PGK1 | c.828T>G (p.Asn276Lys) c.744T>G (p.Asn248Lys) n.235T>G | |
| X | g.78123267G>A | CA10459774 | PGK1 | c.829G>A (p.Gly277Ser) c.745G>A (p.Gly249Ser) n.236G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78123267G>C | CA413716580 | PGK1 | c.829G>C (p.Gly277Arg) c.745G>C (p.Gly249Arg) n.236G>C | |
| X | g.78123267G= | CA2439140510 | PGK1 | c.829G= (p.Gly277=) c.745G= (p.Gly249=) n.236G= | |
| X | g.78123267G>T | CA413716582 | PGK1 | c.829G>T (p.Gly277Cys) c.745G>T (p.Gly249Cys) n.236G>T | |
| X | g.78123268G>A | CA413716585 | PGK1 | c.830G>A (p.Gly277Asp) c.746G>A (p.Gly249Asp) n.237G>A | |
| X | g.78123268G>C | CA413716587 | PGK1 | c.830G>C (p.Gly277Ala) c.746G>C (p.Gly249Ala) n.237G>C | |
| X | g.78123268G>T | CA413716592 | PGK1 | c.830G>T (p.Gly277Val) c.746G>T (p.Gly249Val) n.237G>T | |
| X | g.78123269T>A | CA517380796 | PGK1 | c.831T>A (p.Gly277=) c.747T>A (p.Gly249=) n.238T>A | |
| X | g.78123269T>C | CA517380798 | PGK1 | c.831T>C (p.Gly277=) c.747T>C (p.Gly249=) n.238T>C | |
| X | g.78123269T>G | CA517380797 | PGK1 | c.831T>G (p.Gly277=) c.747T>G (p.Gly249=) n.238T>G | |
| X | g.78123270G>A | CA10459775 | PGK1 | c.832G>A (p.Val278Met) c.748G>A (p.Val250Met) n.239G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78123270G>C | CA413716600 | PGK1 | c.832G>C (p.Val278Leu) c.748G>C (p.Val250Leu) n.239G>C | |
| X | g.78123270G= | CA2439140511 | PGK1 | c.832G= (p.Val278=) c.748G= (p.Val250=) n.239G= | |
| X | g.78123270G>T | CA413716602 | PGK1 | c.832G>T (p.Val278Leu) c.748G>T (p.Val250Leu) n.239G>T | ClinVar |
| X | g.78123271T>A | CA413716604 | PGK1 | c.833T>A (p.Val278Glu) c.749T>A (p.Val250Glu) n.240T>A | |
| X | g.78123271T>C | CA413716606 | PGK1 | c.833T>C (p.Val278Ala) c.749T>C (p.Val250Ala) n.240T>C | |
| X | g.78123271T>G | CA413716608 | PGK1 | c.833T>G (p.Val278Gly) c.749T>G (p.Val250Gly) n.240T>G | |
| X | g.78123272G>A | CA517380799 | PGK1 | c.834G>A (p.Val278=) c.750G>A (p.Val250=) n.241G>A | |
| X | g.78123272G>C | CA517380800 | PGK1 | c.834G>C (p.Val278=) c.750G>C (p.Val250=) n.241G>C | |
| X | g.78123272G>T | CA517380801 | PGK1 | c.834G>T (p.Val278=) c.750G>T (p.Val250=) n.241G>T | |
| X | g.78123273A>C | CA413716610 | PGK1 | c.835A>C (p.Lys279Gln) c.751A>C (p.Lys251Gln) n.242A>C | |
| X | g.78123273A>G | CA413716612 | PGK1 | c.835A>G (p.Lys279Glu) c.751A>G (p.Lys251Glu) n.242A>G | |
| X | g.78123273A>T | CA413716614 | PGK1 | c.835A>T (p.Lys279Ter) c.751A>T (p.Lys251Ter) n.242A>T | |
| X | g.78123274A>C | CA413716618 | PGK1 | c.836A>C (p.Lys279Thr) c.752A>C (p.Lys251Thr) n.243A>C | gnomAD v4 |
| X | g.78123274A>G | CA413716621 | PGK1 | c.836A>G (p.Lys279Arg) c.752A>G (p.Lys251Arg) n.243A>G | gnomAD v4 |
| X | g.78123274A>T | CA413716620 | PGK1 | c.836A>T (p.Lys279Met) c.752A>T (p.Lys251Met) n.243A>T | |
| X | g.78123275G>A | CA517380802 | PGK1 | c.837G>A (p.Lys279=) c.753G>A (p.Lys251=) n.244G>A | gnomAD v4 |
| X | g.78123275G>C | CA413716623 | PGK1 | c.837G>C (p.Lys279Asn) c.753G>C (p.Lys251Asn) n.244G>C | |
| X | g.78123275G>T | CA413716624 | PGK1 | c.837G>T (p.Lys279Asn) c.753G>T (p.Lys251Asn) n.244G>T | |
| X | g.78123276A>C | CA413716627 | PGK1 | c.838A>C (p.Ile280Leu) c.754A>C (p.Ile252Leu) n.245A>C | |
| X | g.78123276A>G | CA413716629 | PGK1 | c.838A>G (p.Ile280Val) c.754A>G (p.Ile252Val) n.245A>G | |
| X | g.78123276A>T | CA413716631 | PGK1 | c.838A>T (p.Ile280Phe) c.754A>T (p.Ile252Phe) n.245A>T | |
| X | g.78123277T>A | CA413716633 | PGK1 | c.839T>A (p.Ile280Asn) c.755T>A (p.Ile252Asn) n.246T>A | |
| X | g.78123277T>C | CA413716636 | PGK1 | c.839T>C (p.Ile280Thr) c.755T>C (p.Ile252Thr) n.246T>C | |
| X | g.78123277T>G | CA413716638 | PGK1 | c.839T>G (p.Ile280Ser) c.755T>G (p.Ile252Ser) n.246T>G | ClinVar |
| X | g.78123278T>A | CA517380803 | PGK1 | c.840T>A (p.Ile280=) c.756T>A (p.Ile252=) n.247T>A | |
| X | g.78123278T>C | CA517380804 | PGK1 | c.840T>C (p.Ile280=) c.756T>C (p.Ile252=) n.247T>C | |
| X | g.78123278T>G | CA413716641 | PGK1 | c.840T>G (p.Ile280Met) c.756T>G (p.Ile252Met) n.247T>G | |
| X | g.78123279A>C | CA413716644 | PGK1 | c.841A>C (p.Thr281Pro) c.757A>C (p.Thr253Pro) n.248A>C | |
| X | g.78123279A>G | CA413716645 | PGK1 | c.841A>G (p.Thr281Ala) c.757A>G (p.Thr253Ala) n.248A>G | |
| X | g.78123279A>T | CA413716646 | PGK1 | c.841A>T (p.Thr281Ser) c.757A>T (p.Thr253Ser) n.248A>T | |
| X | g.78123280C>A | CA413716649 | PGK1 | c.842C>A (p.Thr281Asn) c.758C>A (p.Thr253Asn) n.249C>A | |
| X | g.78123280C>G | CA413716651 | PGK1 | c.842C>G (p.Thr281Ser) c.758C>G (p.Thr253Ser) n.249C>G | |
| X | g.78123280C>T | CA413716653 | PGK1 | c.842C>T (p.Thr281Ile) c.758C>T (p.Thr253Ile) n.249C>T | |
| X | g.78123281C>A | CA517380805 | PGK1 | c.843C>A (p.Thr281=) c.759C>A (p.Thr253=) n.250C>A | |
| X | g.78123281C= | CA2439140512 | PGK1 | c.843C= (p.Thr281=) c.759C= (p.Thr253=) n.250C= | |
| X | g.78123281C>G | CA517380806 | PGK1 | c.843C>G (p.Thr281=) c.759C>G (p.Thr253=) n.250C>G | |
| X | g.78123281C>T | CA10459776 | PGK1 | c.843C>T (p.Thr281=) c.759C>T (p.Thr253=) n.250C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78123282T>A | CA413716658 | PGK1 | c.844T>A (p.Leu282Met) c.760T>A (p.Leu254Met) n.251T>A | |
| X | g.78123282T>C | CA517380807 | PGK1 | c.844T>C (p.Leu282=) c.760T>C (p.Leu254=) n.251T>C | |
| X | g.78123282T>G | CA413716657 | PGK1 | c.844T>G (p.Leu282Val) c.760T>G (p.Leu254Val) n.251T>G | |
| X | g.78123283T>A | CA413716661 | PGK1 | c.845T>A (p.Leu282Ter) c.761T>A (p.Leu254Ter) n.252T>A | |
| X | g.78123283T>C | CA413716663 | PGK1 | c.845T>C (p.Leu282Ser) c.761T>C (p.Leu254Ser) n.252T>C | |
| X | g.78123283T>G | CA413716664 | PGK1 | c.845T>G (p.Leu282Trp) c.761T>G (p.Leu254Trp) n.252T>G | gnomAD v4 |
| X | g.78123284G>A | CA517380808 | PGK1 | c.846G>A (p.Leu282=) c.762G>A (p.Leu254=) n.253G>A | |
| X | g.78123284G>C | CA10459777 | PGK1 | c.846G>C (p.Leu282Phe) c.762G>C (p.Leu254Phe) n.253G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78123284G= | CA2439140513 | PGK1 | c.846G= (p.Leu282=) c.762G= (p.Leu254=) n.253G= | |
| X | g.78123284G>T | CA413716668 | PGK1 | c.846G>T (p.Leu282Phe) c.762G>T (p.Leu254Phe) n.253G>T | |
| X | g.78123285C>A | CA413716674 | PGK1 | c.847C>A (p.Pro283Thr) c.763C>A (p.Pro255Thr) n.254C>A | |
| X | g.78123285C>G | CA413716673 | PGK1 | c.847C>G (p.Pro283Ala) c.763C>G (p.Pro255Ala) n.254C>G | |
| X | g.78123285C>T | CA413716671 | PGK1 | c.847C>T (p.Pro283Ser) c.763C>T (p.Pro255Ser) n.254C>T | |
| X | g.78123286C>A | CA413716677 | PGK1 | c.848C>A (p.Pro283His) c.764C>A (p.Pro255His) n.255C>A | |
| X | g.78123286C= | CA2439140514 | PGK1 | c.848C= (p.Pro283=) c.764C= (p.Pro255=) n.255C= | |
| X | g.78123286C>G | CA413716679 | PGK1 | c.848C>G (p.Pro283Arg) c.764C>G (p.Pro255Arg) n.255C>G | |
| X | g.78123286C>T | CA10459778 | PGK1 | c.848C>T (p.Pro283Leu) c.764C>T (p.Pro255Leu) n.255C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78123287T>A | CA517380809 | PGK1 | c.849T>A (p.Pro283=) c.765T>A (p.Pro255=) n.256T>A | |
| X | g.78123287T>C | CA517380810 | PGK1 | c.849T>C (p.Pro283=) c.765T>C (p.Pro255=) n.256T>C | |
| X | g.78123287T>G | CA517380811 | PGK1 | c.849T>G (p.Pro283=) c.765T>G (p.Pro255=) n.256T>G | |
| X | g.78123288G>A | CA10459779 | PGK1 | c.850G>A (p.Val284Ile) c.766G>A (p.Val256Ile) n.257G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78123288G>C | CA413716683 | PGK1 | c.850G>C (p.Val284Leu) c.766G>C (p.Val256Leu) n.257G>C | COSMIC |
| X | g.78123288G= | CA2439140515 | PGK1 | c.850G= (p.Val284=) c.766G= (p.Val256=) n.257G= | |
| X | g.78123288G>T | CA413716685 | PGK1 | c.850G>T (p.Val284Phe) c.766G>T (p.Val256Phe) n.257G>T | |
| X | g.78123289T>A | CA413716687 | PGK1 | c.851T>A (p.Val284Asp) c.767T>A (p.Val256Asp) n.258T>A | |
| X | g.78123289T>C | CA413716692 | PGK1 | c.851T>C (p.Val284Ala) c.767T>C (p.Val256Ala) n.258T>C | |
| X | g.78123289T>G | CA413716689 | PGK1 | c.851T>G (p.Val284Gly) c.767T>G (p.Val256Gly) n.258T>G | |
| X | g.78123290T>A | CA517380812 | PGK1 | c.852T>A (p.Val284=) c.768T>A (p.Val256=) n.259T>A | |
| X | g.78123290T>C | CA517380813 | PGK1 | c.852T>C (p.Val284=) c.768T>C (p.Val256=) n.259T>C | |
| X | g.78123290T>G | CA517380814 | PGK1 | c.852T>G (p.Val284=) c.768T>G (p.Val256=) n.259T>G | |
| X | g.78123291G>A | CA413716694 | PGK1 | c.853G>A (p.Asp285Asn) c.769G>A (p.Asp257Asn) n.260G>A | gnomAD v4 |
| X | g.78123291G>C | CA413716696 | PGK1 | c.853G>C (p.Asp285His) c.769G>C (p.Asp257His) n.260G>C | |
| X | g.78123291G>T | CA413716697 | PGK1 | c.853G>T (p.Asp285Tyr) c.769G>T (p.Asp257Tyr) n.260G>T | |
| X | g.78123292A= | CA2439140516 | PGK1 | c.854A= (p.Asp285=) c.770A= (p.Asp257=) n.261A= | |
| X | g.78123292A>C | CA413716699 | PGK1 | c.854A>C (p.Asp285Ala) c.770A>C (p.Asp257Ala) n.261A>C | |
| X | g.78123292A>G | CA413716701 | PGK1 | c.854A>G (p.Asp285Gly) c.770A>G (p.Asp257Gly) n.261A>G | |
| X | g.78123292A>T | CA120831 | PGK1 | c.854A>T (p.Asp285Val) c.770A>T (p.Asp257Val) n.261A>T | ClinVar dbSNP |
| X | g.78123293C>A | CA413716704 | PGK1 | c.855C>A (p.Asp285Glu) c.771C>A (p.Asp257Glu) n.262C>A | |
| X | g.78123293C>G | CA413716706 | PGK1 | c.855C>G (p.Asp285Glu) c.771C>G (p.Asp257Glu) n.262C>G | |
| X | g.78123293C>T | CA517380815 | PGK1 | c.855C>T (p.Asp285=) c.771C>T (p.Asp257=) n.262C>T | |
| X | g.78123294T>A | CA413716708 | PGK1 | c.856T>A (p.Phe286Ile) c.772T>A (p.Phe258Ile) n.263T>A | |
| X | g.78123294T>C | CA413716709 | PGK1 | c.856T>C (p.Phe286Leu) c.772T>C (p.Phe258Leu) n.263T>C | |
| X | g.78123294T>G | CA413716711 | PGK1 | c.856T>G (p.Phe286Val) c.772T>G (p.Phe258Val) n.263T>G | |
| X | g.78123295T>A | CA413716716 | PGK1 | c.857T>A (p.Phe286Tyr) c.773T>A (p.Phe258Tyr) n.264T>A | |
| X | g.78123295T>C | CA413716715 | PGK1 | c.857T>C (p.Phe286Ser) c.773T>C (p.Phe258Ser) n.264T>C | gnomAD v4 |
| X | g.78123295T>G | CA413716713 | PGK1 | c.857T>G (p.Phe286Cys) c.773T>G (p.Phe258Cys) n.264T>G | |
| X | g.78123296T>A | CA413716719 | PGK1 | c.858T>A (p.Phe286Leu) c.774T>A (p.Phe258Leu) n.265T>A | |
| X | g.78123296T>C | CA331586158 | PGK1 | c.858T>C (p.Phe286=) c.774T>C (p.Phe258=) n.265T>C | dbSNP |
| X | g.78123296T>G | CA413716722 | PGK1 | c.858T>G (p.Phe286Leu) c.774T>G (p.Phe258Leu) n.265T>G | |
| X | g.78123296T= | CA2439140517 | PGK1 | c.858T= (p.Phe286=) c.774T= (p.Phe258=) n.265T= | |
| X | g.78123297G>A | CA413716724 | PGK1 | c.859G>A (p.Val287Ile) c.775G>A (p.Val259Ile) n.266G>A | |
| X | g.78123297G>C | CA413716725 | PGK1 | c.859G>C (p.Val287Leu) c.775G>C (p.Val259Leu) n.266G>C | |
| X | g.78123297G>T | CA413716727 | PGK1 | c.859G>T (p.Val287Phe) c.775G>T (p.Val259Phe) n.266G>T | |
| X | g.78123298T>A | CA413716730 | PGK1 | c.860T>A (p.Val287Asp) c.776T>A (p.Val259Asp) n.267T>A | |
| X | g.78123298T>C | CA413716731 | PGK1 | c.860T>C (p.Val287Ala) c.776T>C (p.Val259Ala) n.267T>C | |
| X | g.78123298T>G | CA413716734 | PGK1 | c.860T>G (p.Val287Gly) c.776T>G (p.Val259Gly) n.267T>G | |
| X | g.78123299C>A | CA517380816 | PGK1 | c.861C>A (p.Val287=) c.777C>A (p.Val259=) n.268C>A | gnomAD v4 |
| X | g.78123299C= | CA2439140518 | PGK1 | c.861C= (p.Val287=) c.777C= (p.Val259=) n.268C= | |
| X | g.78123299C>G | CA517380817 | PGK1 | c.861C>G (p.Val287=) c.777C>G (p.Val259=) n.268C>G | |
| X | g.78123299C>T | CA517380818 | PGK1 | c.861C>T (p.Val287=) c.777C>T (p.Val259=) n.268C>T | dbSNP |
| X | g.78123300A>C | CA413716736 | PGK1 | c.862A>C (p.Thr288Pro) c.778A>C (p.Thr260Pro) n.269A>C | |
| X | g.78123300A>G | CA413716738 | PGK1 | c.862A>G (p.Thr288Ala) c.778A>G (p.Thr260Ala) n.269A>G | |
| X | g.78123300A>T | CA413716740 | PGK1 | c.862A>T (p.Thr288Ser) c.778A>T (p.Thr260Ser) n.269A>T | |
| X | g.78123301C>A | CA413716745 | PGK1 | c.863C>A (p.Thr288Asn) c.779C>A (p.Thr260Asn) n.270C>A | |
| X | g.78123301C= | CA2439140519 | PGK1 | c.863C= (p.Thr288=) c.779C= (p.Thr260=) n.270C= | |
| X | g.78123301C>G | CA413716743 | PGK1 | c.863C>G (p.Thr288Ser) c.779C>G (p.Thr260Ser) n.270C>G | |
| X | g.78123301C>T | CA413716742 | PGK1 | c.863C>T (p.Thr288Ile) c.779C>T (p.Thr260Ile) n.270C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.78123302T>A | CA517380819 | PGK1 | c.864T>A (p.Thr288=) c.780T>A (p.Thr260=) n.271T>A | |
| X | g.78123302T>C | CA517380820 | PGK1 | c.864T>C (p.Thr288=) c.780T>C (p.Thr260=) n.271T>C | COSMIC |
| X | g.78123302T>G | CA517380821 | PGK1 | c.864T>G (p.Thr288=) c.780T>G (p.Thr260=) n.271T>G | |
| X | g.78123303G>A | CA413716748 | PGK1 | c.865G>A (p.Ala289Thr) c.781G>A (p.Ala261Thr) n.272G>A | |
| X | g.78123303G>C | CA413716751 | PGK1 | c.865G>C (p.Ala289Pro) c.781G>C (p.Ala261Pro) n.272G>C | |
| X | g.78123303G= | CA2439140520 | PGK1 | c.865G= (p.Ala289=) c.781G= (p.Ala261=) n.272G= | |
| X | g.78123303G>T | CA413716750 | PGK1 | c.865G>T (p.Ala289Ser) c.781G>T (p.Ala261Ser) n.272G>T | dbSNP |
| X | g.78123304C>A | CA413716754 | PGK1 | c.866C>A (p.Ala289Asp) c.782C>A (p.Ala261Asp) n.273C>A | |
| X | g.78123304C>G | CA413716756 | PGK1 | c.866C>G (p.Ala289Gly) c.782C>G (p.Ala261Gly) n.273C>G | |
| X | g.78123304C>T | CA413716758 | PGK1 | c.866C>T (p.Ala289Val) c.782C>T (p.Ala261Val) n.273C>T | |
| X | g.78123305T>A | CA517380823 | PGK1 | c.867T>A (p.Ala289=) c.783T>A (p.Ala261=) n.274T>A | |
| X | g.78123305T>C | CA10459780 | PGK1 | c.867T>C (p.Ala289=) c.783T>C (p.Ala261=) n.274T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78123305T>G | CA517380822 | PGK1 | c.867T>G (p.Ala289=) c.783T>G (p.Ala261=) n.274T>G | |
| X | g.78123305T= | CA2439140521 | PGK1 | c.867T= (p.Ala289=) c.783T= (p.Ala261=) n.274T= | |
| X | g.78123306G>A | CA413716761 | PGK1 | c.868G>A (p.Asp290Asn) c.784G>A (p.Asp262Asn) n.275G>A | gnomAD v4 |
| X | g.78123306G>C | CA413716764 | PGK1 | c.868G>C (p.Asp290His) c.784G>C (p.Asp262His) n.275G>C | |
| X | g.78123306G>T | CA413716765 | PGK1 | c.868G>T (p.Asp290Tyr) c.784G>T (p.Asp262Tyr) n.275G>T | |
| X | g.78123307A>C | CA413716766 | PGK1 | c.869A>C (p.Asp290Ala) c.785A>C (p.Asp262Ala) n.276A>C | |
| X | g.78123307A>G | CA413716767 | PGK1 | c.869A>G (p.Asp290Gly) c.785A>G (p.Asp262Gly) n.276A>G | COSMIC |
| X | g.78123307A>T | CA413716768 | PGK1 | c.869A>T (p.Asp290Val) c.785A>T (p.Asp262Val) n.276A>T | |
| X | g.78123308C>A | CA413716771 | PGK1 | c.870C>A (p.Asp290Glu) c.786C>A (p.Asp262Glu) n.277C>A | |
| X | g.78123308C>G | CA413716772 | PGK1 | c.870C>G (p.Asp290Glu) c.786C>G (p.Asp262Glu) n.277C>G | |
| X | g.78123308C>T | CA517380824 | PGK1 | c.870C>T (p.Asp290=) c.786C>T (p.Asp262=) n.277C>T | |
| X | g.78123309A>C | CA413716778 | PGK1 | c.871A>C (p.Lys291Gln) c.787A>C (p.Lys263Gln) n.278A>C | |
| X | g.78123309A>G | CA413716775 | PGK1 | c.871A>G (p.Lys291Glu) c.787A>G (p.Lys263Glu) n.278A>G | |
| X | g.78123309A>T | CA413716776 | PGK1 | c.871A>T (p.Lys291Ter) c.787A>T (p.Lys263Ter) n.278A>T | |
| X | g.78123310A= | CA2439140522 | PGK1 | c.872A= (p.Lys291=) c.788A= (p.Lys263=) n.279A= | |
| X | g.78123310A>C | CA413716781 | PGK1 | c.872A>C (p.Lys291Thr) c.788A>C (p.Lys263Thr) n.279A>C | |
| X | g.78123310A>G | CA413716782 | PGK1 | c.872A>G (p.Lys291Arg) c.788A>G (p.Lys263Arg) n.279A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.78123310A>T | CA413716784 | PGK1 | c.872A>T (p.Lys291Met) c.788A>T (p.Lys263Met) n.279A>T | |
| X | g.78123311G>A | CA517380825 | PGK1 | c.873G>A (p.Lys291=) c.789G>A (p.Lys263=) n.280G>A | |
| X | g.78123311G>C | CA413716787 | PGK1 | c.873G>C (p.Lys291Asn) c.789G>C (p.Lys263Asn) n.280G>C | |
| X | g.78123311G>T | CA413716788 | PGK1 | c.873G>T (p.Lys291Asn) c.789G>T (p.Lys263Asn) n.280G>T | |
| X | g.78123312T>A | CA413716790 | PGK1 | c.874T>A (p.Phe292Ile) c.790T>A (p.Phe264Ile) n.281T>A | |
| X | g.78123312T>C | CA413716792 | PGK1 | c.874T>C (p.Phe292Leu) c.790T>C (p.Phe264Leu) n.281T>C | |
| X | g.78123312T>G | CA413716793 | PGK1 | c.874T>G (p.Phe292Val) c.790T>G (p.Phe264Val) n.281T>G | |
| X | g.78123313T>A | CA413716796 | PGK1 | c.875T>A (p.Phe292Tyr) c.791T>A (p.Phe264Tyr) n.282T>A | |
| X | g.78123313T>C | CA413716798 | PGK1 | c.875T>C (p.Phe292Ser) c.791T>C (p.Phe264Ser) n.282T>C | |
| X | g.78123313T>G | CA413716799 | PGK1 | c.875T>G (p.Phe292Cys) c.791T>G (p.Phe264Cys) n.282T>G | |
| X | g.78123314T>A | CA413716802 | PGK1 | c.876T>A (p.Phe292Leu) c.792T>A (p.Phe264Leu) n.283T>A | gnomAD v4 |
| X | g.78123314T>C | CA517380826 | PGK1 | c.876T>C (p.Phe292=) c.792T>C (p.Phe264=) n.283T>C | |
| X | g.78123314T>G | CA413716800 | PGK1 | c.876T>G (p.Phe292Leu) c.792T>G (p.Phe264Leu) n.283T>G | gnomAD v4 |
| X | g.78123315G>A | CA413716804 | PGK1 | c.877G>A (p.Asp293Asn) c.793G>A (p.Asp265Asn) n.284G>A | gnomAD v4 |
| X | g.78123315G>C | CA413716805 | PGK1 | c.877G>C (p.Asp293His) c.793G>C (p.Asp265His) n.284G>C | COSMIC |
| X | g.78123315G>T | CA413716806 | PGK1 | c.877G>T (p.Asp293Tyr) c.793G>T (p.Asp265Tyr) n.284G>T | |
| X | g.78123316A>C | CA413716809 | PGK1 | c.878A>C (p.Asp293Ala) c.794A>C (p.Asp265Ala) n.285A>C | |
| X | g.78123316A>G | CA413716811 | PGK1 | c.878A>G (p.Asp293Gly) c.794A>G (p.Asp265Gly) n.285A>G | |
| X | g.78123316A>T | CA413716812 | PGK1 | c.878A>T (p.Asp293Val) c.794A>T (p.Asp265Val) n.285A>T | |
| X | g.78123317T>A | CA413716815 | PGK1 | c.879T>A (p.Asp293Glu) c.795T>A (p.Asp265Glu) n.286T>A | |
| X | g.78123317T>C | CA517380827 | PGK1 | c.879T>C (p.Asp293=) c.795T>C (p.Asp265=) n.286T>C | |
| X | g.78123317T>G | CA413716817 | PGK1 | c.879T>G (p.Asp293Glu) c.795T>G (p.Asp265Glu) n.286T>G | |
| X | g.78123318G>A | CA413716820 | PGK1 | c.880G>A (p.Glu294Lys) c.796G>A (p.Glu266Lys) n.287G>A | dbSNP gnomAD v4 |
| X | g.78123318G>C | CA413716821 | PGK1 | c.880G>C (p.Glu294Gln) c.796G>C (p.Glu266Gln) n.287G>C | |
| X | g.78123318G= | CA2439140523 | PGK1 | c.880G= (p.Glu294=) c.796G= (p.Glu266=) n.287G= | |
| X | g.78123318G>T | CA413716823 | PGK1 | c.880G>T (p.Glu294Ter) c.796G>T (p.Glu266Ter) n.287G>T | |
| X | g.78123319A>C | CA413716826 | PGK1 | c.881A>C (p.Glu294Ala) c.797A>C (p.Glu266Ala) n.288A>C | |
| X | g.78123319A>G | CA413716828 | PGK1 | c.881A>G (p.Glu294Gly) c.797A>G (p.Glu266Gly) n.288A>G | |
| X | g.78123319A>T | CA413716830 | PGK1 | c.881A>T (p.Glu294Val) c.797A>T (p.Glu266Val) n.288A>T | |
| X | g.78123320G>A | CA517380828 | PGK1 | c.882G>A (p.Glu294=) c.798G>A (p.Glu266=) n.289G>A | |
| X | g.78123320G>C | CA413716834 | PGK1 | c.882G>C (p.Glu294Asp) c.798G>C (p.Glu266Asp) n.289G>C | |
| X | g.78123320G>T | CA413716832 | PGK1 | c.882G>T (p.Glu294Asp) c.798G>T (p.Glu266Asp) n.289G>T | |
| X | g.78123321A>C | CA413716836 | PGK1 | c.883A>C (p.Asn295His) c.799A>C (p.Asn267His) n.290A>C | |
| X | g.78123321A>G | CA413716838 | PGK1 | c.883A>G (p.Asn295Asp) c.799A>G (p.Asn267Asp) n.290A>G | |
| X | g.78123321A>T | CA413716839 | PGK1 | c.883A>T (p.Asn295Tyr) c.799A>T (p.Asn267Tyr) n.290A>T | |
| X | g.78123322A= | CA2439140524 | PGK1 | c.884A= (p.Asn295=) c.800A= (p.Asn267=) n.291A= | |
| X | g.78123322A>C | CA413716841 | PGK1 | c.884A>C (p.Asn295Thr) c.800A>C (p.Asn267Thr) n.291A>C | |
| X | g.78123322A>G | CA10459781 | PGK1 | c.884A>G (p.Asn295Ser) c.800A>G (p.Asn267Ser) n.291A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78123322A>T | CA413716844 | PGK1 | c.884A>T (p.Asn295Ile) c.800A>T (p.Asn267Ile) n.291A>T | dbSNP |
| X | g.78123323T>A | CA413716847 | PGK1 | c.885T>A (p.Asn295Lys) c.801T>A (p.Asn267Lys) n.292T>A | |
| X | g.78123323T>C | CA517380829 | PGK1 | c.885T>C (p.Asn295=) c.801T>C (p.Asn267=) n.292T>C | |
| X | g.78123323T>G | CA413716848 | PGK1 | c.885T>G (p.Asn295Lys) c.801T>G (p.Asn267Lys) n.292T>G | |
| X | g.78123324G>A | CA331586159 | PGK1 | c.886G>A (p.Ala296Thr) c.802G>A (p.Ala268Thr) n.293G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.78123324G>C | CA413716851 | PGK1 | c.886G>C (p.Ala296Pro) c.802G>C (p.Ala268Pro) n.293G>C | |
| X | g.78123324G= | CA2439140525 | PGK1 | c.886G= (p.Ala296=) c.802G= (p.Ala268=) n.293G= | |
| X | g.78123324G>T | CA413716854 | PGK1 | c.886G>T (p.Ala296Ser) c.802G>T (p.Ala268Ser) n.293G>T | |
| X | g.78123325C>A | CA413716856 | PGK1 | c.887C>A (p.Ala296Asp) c.803C>A (p.Ala268Asp) n.294C>A | |
| X | g.78123325C= | CA2439140526 | PGK1 | c.887C= (p.Ala296=) c.803C= (p.Ala268=) n.294C= | |
| X | g.78123325C>G | CA413716858 | PGK1 | c.887C>G (p.Ala296Gly) c.803C>G (p.Ala268Gly) n.294C>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.78123325C>T | CA331586160 | PGK1 | c.887C>T (p.Ala296Val) c.803C>T (p.Ala268Val) n.294C>T | ClinVar dbSNP gnomAD v4 |
| X | g.78123326C>A | CA517380831 | PGK1 | c.888C>A (p.Ala296=) c.804C>A (p.Ala268=) n.295C>A | gnomAD v4 |
| X | g.78123326C= | CA2439140527 | PGK1 | c.888C= (p.Ala296=) c.804C= (p.Ala268=) n.295C= | |
| X | g.78123326C>G | CA10459782 | PGK1 | c.888C>G (p.Ala296=) c.804C>G (p.Ala268=) n.295C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78123326C>T | CA517380830 | PGK1 | c.888C>T (p.Ala296=) c.804C>T (p.Ala268=) n.295C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.78123327A>C | CA413716866 | PGK1 | c.889A>C (p.Lys297Gln) c.805A>C (p.Lys269Gln) n.296A>C | |
| X | g.78123327A>G | CA413716863 | PGK1 | c.889A>G (p.Lys297Glu) c.805A>G (p.Lys269Glu) n.296A>G | |
| X | g.78123327A>T | CA413716868 | PGK1 | c.889A>T (p.Lys297Ter) c.805A>T (p.Lys269Ter) n.296A>T | |
| X | g.78123328A= | CA2439140528 | PGK1 | c.890A= (p.Lys297=) c.806A= (p.Lys269=) n.297A= | |
| X | g.78123328A>C | CA413716870 | PGK1 | c.890A>C (p.Lys297Thr) c.806A>C (p.Lys269Thr) n.297A>C | |
| X | g.78123328A>G | CA10459783 | PGK1 | c.890A>G (p.Lys297Arg) c.806A>G (p.Lys269Arg) n.297A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78123328A>T | CA413716873 | PGK1 | c.890A>T (p.Lys297Met) c.806A>T (p.Lys269Met) n.297A>T | |
| X | g.78123328_78123329insTCTACACAGGG | CA2571146346 | PGK1 | c.890_891insTCTACACAGGG (p.Lys297AsnfsTer?) c.806_807insTCTACACAGGG (p.Lys269AsnfsTer?) n.297_298insTCTACACAGGG | |
| X | g.78123329G>A | CA517380832 | PGK1 | c.891G>A (p.Lys297=) c.807G>A (p.Lys269=) n.298G>A | |
| X | g.78123329G>C | CA413716876 | PGK1 | c.891G>C (p.Lys297Asn) c.807G>C (p.Lys269Asn) n.298G>C | |
| X | g.78123329G>T | CA413716878 | PGK1 | c.891G>T (p.Lys297Asn) c.807G>T (p.Lys269Asn) n.298G>T | |
| X | g.78123330A= | CA2439140529 | PGK1 | c.892A= (p.Thr298=) c.808A= (p.Thr270=) n.299A= | |
| X | g.78123330A>C | CA413716880 | PGK1 | c.892A>C (p.Thr298Pro) c.808A>C (p.Thr270Pro) n.299A>C | |
| X | g.78123330A>G | CA10459784 | PGK1 | c.892A>G (p.Thr298Ala) c.808A>G (p.Thr270Ala) n.299A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78123330A>T | CA413716882 | PGK1 | c.892A>T (p.Thr298Ser) c.808A>T (p.Thr270Ser) n.299A>T | |
| X | g.78123331C>A | CA413716886 | PGK1 | c.893C>A (p.Thr298Asn) c.809C>A (p.Thr270Asn) n.300C>A | |
| X | g.78123331C>G | CA413716890 | PGK1 | c.893C>G (p.Thr298Ser) c.809C>G (p.Thr270Ser) n.300C>G | |
| X | g.78123331C>T | CA413716888 | PGK1 | c.893C>T (p.Thr298Ile) c.809C>T (p.Thr270Ile) n.300C>T | gnomAD v4 |
| X | g.78123332T>A | CA517380834 | PGK1 | c.894T>A (p.Thr298=) c.810T>A (p.Thr270=) n.301T>A | |
| X | g.78123332T>C | CA517380833 | PGK1 | c.894T>C (p.Thr298=) c.810T>C (p.Thr270=) n.301T>C | |
| X | g.78123332T>G | CA10459785 | PGK1 | c.894T>G (p.Thr298=) c.810T>G (p.Thr270=) n.301T>G | dbSNP ExAC |
| X | g.78123332T= | CA2439140530 | PGK1 | c.894T= (p.Thr298=) c.810T= (p.Thr270=) n.301T= | |
| X | g.78123333G>A | CA413716894 | PGK1 | c.895G>A (p.Gly299Ser) c.811G>A (p.Gly271Ser) n.302G>A | gnomAD v4 |
| X | g.78123333G>C | CA413716895 | PGK1 | c.895G>C (p.Gly299Arg) c.811G>C (p.Gly271Arg) n.302G>C | |
| X | g.78123333G>T | CA413716897 | PGK1 | c.895G>T (p.Gly299Cys) c.811G>T (p.Gly271Cys) n.302G>T | |
| X | g.78123334G>A | CA413716899 | PGK1 | c.896G>A (p.Gly299Asp) c.812G>A (p.Gly271Asp) n.303G>A | dbSNP gnomAD v2 |
| X | g.78123334G>C | CA413716900 | PGK1 | c.896G>C (p.Gly299Ala) c.812G>C (p.Gly271Ala) n.303G>C | |
| X | g.78123334G= | CA2439140531 | PGK1 | c.896G= (p.Gly299=) c.812G= (p.Gly271=) n.303G= | |
| X | g.78123334G>T | CA413716902 | PGK1 | c.896G>T (p.Gly299Val) c.812G>T (p.Gly271Val) n.303G>T | |
| X | g.78123335C>A | CA517380835 | PGK1 | c.897C>A (p.Gly299=) c.813C>A (p.Gly271=) n.304C>A | |
| X | g.78123335C>G | CA517380836 | PGK1 | c.897C>G (p.Gly299=) c.813C>G (p.Gly271=) n.304C>G | |
| X | g.78123335C>T | CA517380837 | PGK1 | c.897C>T (p.Gly299=) c.813C>T (p.Gly271=) n.304C>T | COSMIC |
| X | g.78123336C>A | CA10459786 | PGK1 | c.898C>A (p.Gln300Lys) c.814C>A (p.Gln272Lys) n.305C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78123336C= | CA2439140532 | PGK1 | c.898C= (p.Gln300=) c.814C= (p.Gln272=) n.305C= | |
| X | g.78123336C>G | CA10459787 | PGK1 | c.898C>G (p.Gln300Glu) c.814C>G (p.Gln272Glu) n.305C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78123336C>T | CA413716907 | PGK1 | c.898C>T (p.Gln300Ter) c.814C>T (p.Gln272Ter) n.305C>T | |
| X | g.78123337A>C | CA413716913 | PGK1 | c.899A>C (p.Gln300Pro) c.815A>C (p.Gln272Pro) n.306A>C | |
| X | g.78123337A>G | CA413716911 | PGK1 | c.899A>G (p.Gln300Arg) c.815A>G (p.Gln272Arg) n.306A>G | |
| X | g.78123337A>T | CA413716909 | PGK1 | c.899A>T (p.Gln300Leu) c.815A>T (p.Gln272Leu) n.306A>T | |
| X | g.78123338dup | CA2439140533 | PGK1 | c.900dup (p.Ala301SerfsTer19) c.816dup (p.Ala273SerfsTer19) | dbSNP |
| X | g.78123338A= | CA2439140534 | PGK1 | c.900A= (p.Gln300=) c.816A= (p.Gln272=) n.307A= | |
| X | g.78123338A>C | CA413716915 | PGK1 | c.900A>C (p.Gln300His) c.816A>C (p.Gln272His) n.307A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.78123338A>G | CA517380838 | PGK1 | c.900A>G (p.Gln300=) c.816A>G (p.Gln272=) n.307A>G | |
| X | g.78123338A>T | CA413716917 | PGK1 | c.900A>T (p.Gln300His) c.816A>T (p.Gln272His) n.307A>T | |
| X | g.78123339G>A | CA413716918 | PGK1 | c.901G>A (p.Ala301Thr) c.817G>A (p.Ala273Thr) | gnomAD v4 |
| X | g.78123339G>C | CA413716920 | PGK1 | c.901G>C (p.Ala301Pro) c.817G>C (p.Ala273Pro) | |
| X | g.78123339G>T | CA413716922 | PGK1 | c.901G>T (p.Ala301Ser) c.817G>T (p.Ala273Ser) | COSMIC |
| X | g.78123340C>A | CA413716924 | PGK1 | c.902C>A (p.Ala301Asp) c.818C>A (p.Ala273Asp) | dbSNP |
| X | g.78123340C= | CA2439140535 | PGK1 | c.902C= (p.Ala301=) c.818C= (p.Ala273=) | |
| X | g.78123340C>G | CA413716926 | PGK1 | c.902C>G (p.Ala301Gly) c.818C>G (p.Ala273Gly) | |
| X | g.78123340C>T | CA413716928 | PGK1 | c.902C>T (p.Ala301Val) c.818C>T (p.Ala273Val) | |
| X | g.78123341C>A | CA517380839 | PGK1 | c.903C>A (p.Ala301=) c.819C>A (p.Ala273=) | |
| X | g.78123341C>G | CA517380840 | PGK1 | c.903C>G (p.Ala301=) c.819C>G (p.Ala273=) | |
| X | g.78123341C>T | CA517380841 | PGK1 | c.903C>T (p.Ala301=) c.819C>T (p.Ala273=) | |
| X | g.78123342A>C | CA413716930 | PGK1 | c.904A>C (p.Thr302Pro) c.820A>C (p.Thr274Pro) | |
| X | g.78123342A>G | CA413716932 | PGK1 | c.904A>G (p.Thr302Ala) c.820A>G (p.Thr274Ala) | |
| X | g.78123342A>T | CA413716933 | PGK1 | c.904A>T (p.Thr302Ser) c.820A>T (p.Thr274Ser) | |
| X | g.78123343C>A | CA413716941 | PGK1 | c.905C>A (p.Thr302Asn) c.821C>A (p.Thr274Asn) | |
| X | g.78123343C= | CA2439140537 | PGK1 | c.905C= (p.Thr302=) c.821C= (p.Thr274=) | |
| X | g.78123343C>G | CA413716943 | PGK1 | c.905C>G (p.Thr302Ser) c.821C>G (p.Thr274Ser) | |
| X | g.78123343C>T | CA413716940 | PGK1 | c.905C>T (p.Thr302Ile) c.821C>T (p.Thr274Ile) | dbSNP |
| X | g.78123343_78123386delinsCTGTGGCTTCTGGCATACCTGCTGGCTGGATGGTGAGTCACTTG | CA2439140536 | PGK1 | c.905_936+12delinsCTGTGGCTTCTGGCATACCTGCTGGCTGGATGGTGAGTCACTTG c.821_852+12delinsCTGTGGCTTCTGGCATACCTGCTGGCTGGATGGTGAGTCACTTG | |
| X | g.78123344T>A | CA517380842 | PGK1 | c.906T>A (p.Thr302=) c.822T>A (p.Thr274=) | |
| X | g.78123344T>C | CA517380843 | PGK1 | c.906T>C (p.Thr302=) c.822T>C (p.Thr274=) | |
| X | g.78123344T>G | CA517380844 | PGK1 | c.906T>G (p.Thr302=) c.822T>G (p.Thr274=) | |
| X | g.78123344_78123386del | CA891863078 | PGK1 | c.906_936+12del c.822_852+12del | ClinVar dbSNP |