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.78124893A= | CA2439141081 | PGK1 | c.956A= (p.Glu319=) c.872A= (p.Glu291=) | |
| X | g.78124893A>C | CA413717281 | PGK1 | c.956A>C (p.Glu319Ala) c.872A>C (p.Glu291Ala) | |
| X | g.78124893A>G | CA413717282 | PGK1 | c.956A>G (p.Glu319Gly) c.872A>G (p.Glu291Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78124893A>T | CA413717285 | PGK1 | c.956A>T (p.Glu319Val) c.872A>T (p.Glu291Val) | |
| X | g.78124894A>C | CA413717287 | PGK1 | c.957A>C (p.Glu319Asp) c.873A>C (p.Glu291Asp) | |
| X | g.78124894A>G | CA517381192 | PGK1 | c.957A>G (p.Glu319=) c.873A>G (p.Glu291=) | dbSNP |
| X | g.78124894A>T | CA413717289 | PGK1 | c.957A>T (p.Glu319Asp) c.873A>T (p.Glu291Asp) | |
| X | g.78124895A>C | CA413717291 | PGK1 | c.958A>C (p.Ser320Arg) c.874A>C (p.Ser292Arg) | |
| X | g.78124895A>G | CA413717293 | PGK1 | c.958A>G (p.Ser320Gly) c.874A>G (p.Ser292Gly) | |
| X | g.78124895A>T | CA413717295 | PGK1 | c.958A>T (p.Ser320Cys) c.874A>T (p.Ser292Cys) | |
| X | g.78124896G>A | CA120834 | PGK1 | c.959G>A (p.Ser320Asn) c.875G>A (p.Ser292Asn) | ClinVar dbSNP |
| X | g.78124896G>C | CA413717299 | PGK1 | c.959G>C (p.Ser320Thr) c.875G>C (p.Ser292Thr) | |
| X | g.78124896G= | CA2439141082 | PGK1 | c.959G= (p.Ser320=) c.875G= (p.Ser292=) | |
| X | g.78124896G>T | CA413717300 | PGK1 | c.959G>T (p.Ser320Ile) c.875G>T (p.Ser292Ile) | |
| X | g.78124897C>A | CA413717301 | PGK1 | c.960C>A (p.Ser320Arg) c.876C>A (p.Ser292Arg) | |
| X | g.78124897C>G | CA413717303 | PGK1 | c.960C>G (p.Ser320Arg) c.876C>G (p.Ser292Arg) | |
| X | g.78124897C>T | CA517381203 | PGK1 | c.960C>T (p.Ser320=) c.876C>T (p.Ser292=) | |
| X | g.78124898A>C | CA413717306 | PGK1 | c.961A>C (p.Ser321Arg) c.877A>C (p.Ser293Arg) | |
| X | g.78124898A>G | CA413717308 | PGK1 | c.961A>G (p.Ser321Gly) c.877A>G (p.Ser293Gly) | |
| X | g.78124898A>T | CA413717309 | PGK1 | c.961A>T (p.Ser321Cys) c.877A>T (p.Ser293Cys) | |
| X | g.78124899G>A | CA413717312 | PGK1 | c.962G>A (p.Ser321Asn) c.878G>A (p.Ser293Asn) | COSMIC |
| X | g.78124899G>C | CA413717314 | PGK1 | c.962G>C (p.Ser321Thr) c.878G>C (p.Ser293Thr) | |
| X | g.78124899G>T | CA413717316 | PGK1 | c.962G>T (p.Ser321Ile) c.878G>T (p.Ser293Ile) | |
| X | g.78124900C>A | CA413717318 | PGK1 | c.963C>A (p.Ser321Arg) c.879C>A (p.Ser293Arg) | |
| X | g.78124900C>G | CA413717320 | PGK1 | c.963C>G (p.Ser321Arg) c.879C>G (p.Ser293Arg) | |
| X | g.78124900C>T | CA517381214 | PGK1 | c.963C>T (p.Ser321=) c.879C>T (p.Ser293=) | |
| X | g.78124901A>C | CA413717323 | PGK1 | c.964A>C (p.Lys322Gln) c.880A>C (p.Lys294Gln) | |
| X | g.78124901A>G | CA413717324 | PGK1 | c.964A>G (p.Lys322Glu) c.880A>G (p.Lys294Glu) | |
| X | g.78124901A>T | CA413717326 | PGK1 | c.964A>T (p.Lys322Ter) c.880A>T (p.Lys294Ter) | |
| X | g.78124902A>C | CA413717333 | PGK1 | c.965A>C (p.Lys322Thr) c.881A>C (p.Lys294Thr) | COSMIC |
| X | g.78124902A>G | CA413717329 | PGK1 | c.965A>G (p.Lys322Arg) c.881A>G (p.Lys294Arg) | COSMIC |
| X | g.78124902A>T | CA413717330 | PGK1 | c.965A>T (p.Lys322Met) c.881A>T (p.Lys294Met) | |
| X | g.78124903G>A | CA517381224 | PGK1 | c.966G>A (p.Lys322=) c.882G>A (p.Lys294=) | gnomAD v4 |
| X | g.78124903G>C | CA413717335 | PGK1 | c.966G>C (p.Lys322Asn) c.882G>C (p.Lys294Asn) | dbSNP gnomAD v4 |
| X | g.78124903G= | CA2439141083 | PGK1 | c.966G= (p.Lys322=) c.882G= (p.Lys294=) | |
| X | g.78124903G>T | CA413717337 | PGK1 | c.966G>T (p.Lys322Asn) c.882G>T (p.Lys294Asn) | |
| X | g.78124904A>C | CA413717340 | PGK1 | c.967A>C (p.Lys323Gln) c.883A>C (p.Lys295Gln) | |
| X | g.78124904A>G | CA413717341 | PGK1 | c.967A>G (p.Lys323Glu) c.883A>G (p.Lys295Glu) | |
| X | g.78124904A>T | CA413717343 | PGK1 | c.967A>T (p.Lys323Ter) c.883A>T (p.Lys295Ter) | |
| X | g.78124905A>C | CA413717346 | PGK1 | c.968A>C (p.Lys323Thr) c.884A>C (p.Lys295Thr) | |
| X | g.78124905A>G | CA413717348 | PGK1 | c.968A>G (p.Lys323Arg) c.884A>G (p.Lys295Arg) | |
| X | g.78124905A>T | CA413717350 | PGK1 | c.968A>T (p.Lys323Met) c.884A>T (p.Lys295Met) | |
| X | g.78124906G>A | CA517381233 | PGK1 | c.969G>A (p.Lys323=) c.885G>A (p.Lys295=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.78124906G>C | CA413717352 | PGK1 | c.969G>C (p.Lys323Asn) c.885G>C (p.Lys295Asn) | |
| X | g.78124906G= | CA2439141084 | PGK1 | c.969G= (p.Lys323=) c.885G= (p.Lys295=) | |
| X | g.78124906G>T | CA413717353 | PGK1 | c.969G>T (p.Lys323Asn) c.885G>T (p.Lys295Asn) | |
| X | g.78124907T>A | CA413717357 | PGK1 | c.970T>A (p.Tyr324Asn) c.886T>A (p.Tyr296Asn) | |
| X | g.78124907T>C | CA413717358 | PGK1 | c.970T>C (p.Tyr324His) c.886T>C (p.Tyr296His) | |
| X | g.78124907T>G | CA413717361 | PGK1 | c.970T>G (p.Tyr324Asp) c.886T>G (p.Tyr296Asp) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.78124907T= | CA2439141085 | PGK1 | c.970T= (p.Tyr324=) c.886T= (p.Tyr296=) | |
| X | g.78124908A>C | CA413717365 | PGK1 | c.971A>C (p.Tyr324Ser) c.887A>C (p.Tyr296Ser) | |
| X | g.78124908A>G | CA413717364 | PGK1 | c.971A>G (p.Tyr324Cys) c.887A>G (p.Tyr296Cys) | gnomAD v4 |
| X | g.78124908A>T | CA413717363 | PGK1 | c.971A>T (p.Tyr324Phe) c.887A>T (p.Tyr296Phe) | |
| X | g.78124909T>A | CA413717368 | PGK1 | c.972T>A (p.Tyr324Ter) c.888T>A (p.Tyr296Ter) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.78124909T>C | CA517381242 | PGK1 | c.972T>C (p.Tyr324=) c.888T>C (p.Tyr296=) | |
| X | g.78124909T>G | CA413717370 | PGK1 | c.972T>G (p.Tyr324Ter) c.888T>G (p.Tyr296Ter) | |
| X | g.78124909T= | CA2439141086 | PGK1 | c.972T= (p.Tyr324=) c.888T= (p.Tyr296=) | |
| X | g.78124910G>A | CA413717372 | PGK1 | c.973G>A (p.Ala325Thr) c.889G>A (p.Ala297Thr) | |
| X | g.78124910G>C | CA413717374 | PGK1 | c.973G>C (p.Ala325Pro) c.889G>C (p.Ala297Pro) | |
| X | g.78124910G>T | CA413717376 | PGK1 | c.973G>T (p.Ala325Ser) c.889G>T (p.Ala297Ser) | |
| X | g.78124911C>A | CA413717378 | PGK1 | c.974C>A (p.Ala325Asp) c.890C>A (p.Ala297Asp) | |
| X | g.78124911C>G | CA413717380 | PGK1 | c.974C>G (p.Ala325Gly) c.890C>G (p.Ala297Gly) | |
| X | g.78124911C>T | CA413717382 | PGK1 | c.974C>T (p.Ala325Val) c.890C>T (p.Ala297Val) | |
| X | g.78124912T>A | CA517381249 | PGK1 | c.975T>A (p.Ala325=) c.891T>A (p.Ala297=) | |
| X | g.78124912T>C | CA517381250 | PGK1 | c.975T>C (p.Ala325=) c.891T>C (p.Ala297=) | dbSNP |
| X | g.78124912T>G | CA517381251 | PGK1 | c.975T>G (p.Ala325=) c.891T>G (p.Ala297=) | |
| X | g.78124913G>A | CA413717384 | PGK1 | c.976G>A (p.Glu326Lys) c.892G>A (p.Glu298Lys) | COSMIC |
| X | g.78124913G>C | CA413717385 | PGK1 | c.976G>C (p.Glu326Gln) c.892G>C (p.Glu298Gln) | |
| X | g.78124913G>T | CA413717387 | PGK1 | c.976G>T (p.Glu326Ter) c.892G>T (p.Glu298Ter) | |
| X | g.78124914A= | CA2439141087 | PGK1 | c.977A= (p.Glu326=) c.893A= (p.Glu298=) | |
| X | g.78124914A>C | CA413717389 | PGK1 | c.977A>C (p.Glu326Ala) c.893A>C (p.Glu298Ala) | |
| X | g.78124914A>G | CA413717392 | PGK1 | c.977A>G (p.Glu326Gly) c.893A>G (p.Glu298Gly) | |
| X | g.78124914A>T | CA413717393 | PGK1 | c.977A>T (p.Glu326Val) c.893A>T (p.Glu298Val) | dbSNP |
| X | g.78124915G>A | CA10459807 | PGK1 | c.978G>A (p.Glu326=) c.894G>A (p.Glu298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78124915G>C | CA413717398 | PGK1 | c.978G>C (p.Glu326Asp) c.894G>C (p.Glu298Asp) | |
| X | g.78124915G= | CA2439141088 | PGK1 | c.978G= (p.Glu326=) c.894G= (p.Glu298=) | |
| X | g.78124915G>T | CA413717395 | PGK1 | c.978G>T (p.Glu326Asp) c.894G>T (p.Glu298Asp) | |
| X | g.78124916G>A | CA331586247 | PGK1 | c.979G>A (p.Ala327Thr) c.895G>A (p.Ala299Thr) | dbSNP |
| X | g.78124916G>C | CA413717402 | PGK1 | c.979G>C (p.Ala327Pro) c.895G>C (p.Ala299Pro) | |
| X | g.78124916G= | CA2439141089 | PGK1 | c.979G= (p.Ala327=) c.895G= (p.Ala299=) | |
| X | g.78124916G>T | CA413717403 | PGK1 | c.979G>T (p.Ala327Ser) c.895G>T (p.Ala299Ser) | |
| X | g.78124917C>A | CA413717406 | PGK1 | c.980C>A (p.Ala327Asp) c.896C>A (p.Ala299Asp) | |
| X | g.78124917C>G | CA413717407 | PGK1 | c.980C>G (p.Ala327Gly) c.896C>G (p.Ala299Gly) | |
| X | g.78124917C>T | CA413717409 | PGK1 | c.980C>T (p.Ala327Val) c.896C>T (p.Ala299Val) | |
| X | g.78124918T>A | CA517381253 | PGK1 | c.981T>A (p.Ala327=) c.897T>A (p.Ala299=) | |
| X | g.78124918T>C | CA517381254 | PGK1 | c.981T>C (p.Ala327=) c.897T>C (p.Ala299=) | |
| X | g.78124918T>G | CA517381256 | PGK1 | c.981T>G (p.Ala327=) c.897T>G (p.Ala299=) | |
| X | g.78124919G>A | CA413717414 | PGK1 | c.982G>A (p.Val328Ile) c.898G>A (p.Val300Ile) | |
| X | g.78124919G>C | CA413717413 | PGK1 | c.982G>C (p.Val328Leu) c.898G>C (p.Val300Leu) | |
| X | g.78124919G>T | CA413717412 | PGK1 | c.982G>T (p.Val328Phe) c.898G>T (p.Val300Phe) | |
| X | g.78124920T>A | CA413717417 | PGK1 | c.983T>A (p.Val328Asp) c.899T>A (p.Val300Asp) | |
| X | g.78124920T>C | CA413717419 | PGK1 | c.983T>C (p.Val328Ala) c.899T>C (p.Val300Ala) | |
| X | g.78124920T>G | CA413717421 | PGK1 | c.983T>G (p.Val328Gly) c.899T>G (p.Val300Gly) | gnomAD v4 |
| X | g.78124921C>A | CA517381257 | PGK1 | c.984C>A (p.Val328=) c.900C>A (p.Val300=) | |
| X | g.78124921C>G | CA517381258 | PGK1 | c.984C>G (p.Val328=) c.900C>G (p.Val300=) | dbSNP |
| X | g.78124921C>T | CA517381259 | PGK1 | c.984C>T (p.Val328=) c.900C>T (p.Val300=) | |
| X | g.78124922A= | CA2439141090 | PGK1 | c.985A= (p.Thr329=) c.901A= (p.Thr301=) | |
| X | g.78124922A>C | CA413717422 | PGK1 | c.985A>C (p.Thr329Pro) c.901A>C (p.Thr301Pro) | |
| X | g.78124922A>G | CA10459808 | PGK1 | c.985A>G (p.Thr329Ala) c.901A>G (p.Thr301Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78124922A>T | CA413717425 | PGK1 | c.985A>T (p.Thr329Ser) c.901A>T (p.Thr301Ser) | |
| X | g.78124923C>A | CA413717427 | PGK1 | c.986C>A (p.Thr329Asn) c.902C>A (p.Thr301Asn) | |
| X | g.78124923C>G | CA413717432 | PGK1 | c.986C>G (p.Thr329Ser) c.902C>G (p.Thr301Ser) | dbSNP |
| X | g.78124923C>T | CA413717430 | PGK1 | c.986C>T (p.Thr329Ile) c.902C>T (p.Thr301Ile) | gnomAD v3 gnomAD v4 |
| X | g.78124924T>A | CA517381260 | PGK1 | c.987T>A (p.Thr329=) c.903T>A (p.Thr301=) | |
| X | g.78124924T>C | CA517381262 | PGK1 | c.987T>C (p.Thr329=) c.903T>C (p.Thr301=) | |
| X | g.78124924T>G | CA517381265 | PGK1 | c.987T>G (p.Thr329=) c.903T>G (p.Thr301=) | |
| X | g.78124925C>A | CA517381267 | PGK1 | c.988C>A (p.Arg330=) c.904C>A (p.Arg302=) | |
| X | g.78124925C= | CA2439141091 | PGK1 | c.988C= (p.Arg330=) c.904C= (p.Arg302=) | |
| X | g.78124925C>G | CA413717435 | PGK1 | c.988C>G (p.Arg330Gly) c.904C>G (p.Arg302Gly) | |
| X | g.78124925C>T | CA10459809 | PGK1 | c.988C>T (p.Arg330Trp) c.904C>T (p.Arg302Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78124926G>A | CA413717439 | PGK1 | c.989G>A (p.Arg330Gln) c.905G>A (p.Arg302Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.78124926G>C | CA413717441 | PGK1 | c.989G>C (p.Arg330Pro) c.905G>C (p.Arg302Pro) | dbSNP gnomAD v4 |
| X | g.78124926G= | CA2439141092 | PGK1 | c.989G= (p.Arg330=) c.905G= (p.Arg302=) | |
| X | g.78124926G>T | CA413717444 | PGK1 | c.989G>T (p.Arg330Leu) c.905G>T (p.Arg302Leu) | COSMIC |
| X | g.78124927G>A | CA517381268 | PGK1 | c.990G>A (p.Arg330=) c.906G>A (p.Arg302=) | dbSNP |
| X | g.78124927G>C | CA517381270 | PGK1 | c.990G>C (p.Arg330=) c.906G>C (p.Arg302=) | |
| X | g.78124927G>T | CA517381269 | PGK1 | c.990G>T (p.Arg330=) c.906G>T (p.Arg302=) | |
| X | g.78124928G>A | CA413717446 | PGK1 | c.991G>A (p.Ala331Thr) c.907G>A (p.Ala303Thr) | gnomAD v4 |
| X | g.78124928G>C | CA413717454 | PGK1 | c.991G>C (p.Ala331Pro) c.907G>C (p.Ala303Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78124928G= | CA2439141093 | PGK1 | c.991G= (p.Ala331=) c.907G= (p.Ala303=) | |
| X | g.78124928G>T | CA413717457 | PGK1 | c.991G>T (p.Ala331Ser) c.907G>T (p.Ala303Ser) | |
| X | g.78124929C>A | CA413717461 | PGK1 | c.992C>A (p.Ala331Asp) c.908C>A (p.Ala303Asp) | |
| X | g.78124929C>G | CA413717462 | PGK1 | c.992C>G (p.Ala331Gly) c.908C>G (p.Ala303Gly) | |
| X | g.78124929C>T | CA413717465 | PGK1 | c.992C>T (p.Ala331Val) c.908C>T (p.Ala303Val) | |
| X | g.78124930T>A | CA517381275 | PGK1 | c.993T>A (p.Ala331=) c.909T>A (p.Ala303=) | |
| X | g.78124930T>C | CA517381276 | PGK1 | c.993T>C (p.Ala331=) c.909T>C (p.Ala303=) | gnomAD v4 |
| X | g.78124930T>G | CA517381277 | PGK1 | c.993T>G (p.Ala331=) c.909T>G (p.Ala303=) | |
| X | g.78124931A>C | CA413717472 | PGK1 | c.994A>C (p.Lys332Gln) c.910A>C (p.Lys304Gln) | |
| X | g.78124931A>G | CA413717467 | PGK1 | c.994A>G (p.Lys332Glu) c.910A>G (p.Lys304Glu) | |
| X | g.78124931A>T | CA413717469 | PGK1 | c.994A>T (p.Lys332Ter) c.910A>T (p.Lys304Ter) | |
| X | g.78124932A>C | CA413717475 | PGK1 | c.995A>C (p.Lys332Thr) c.911A>C (p.Lys304Thr) | |
| X | g.78124932A>G | CA413717478 | PGK1 | c.995A>G (p.Lys332Arg) c.911A>G (p.Lys304Arg) | |
| X | g.78124932A>T | CA413717476 | PGK1 | c.995A>T (p.Lys332Met) c.911A>T (p.Lys304Met) | |
| X | g.78124933G>A | CA517381282 | PGK1 | c.996G>A (p.Lys332=) c.912G>A (p.Lys304=) | |
| X | g.78124933G>C | CA413717480 | PGK1 | c.996G>C (p.Lys332Asn) c.912G>C (p.Lys304Asn) | |
| X | g.78124933G>T | CA413717482 | PGK1 | c.996G>T (p.Lys332Asn) c.912G>T (p.Lys304Asn) | |
| X | g.78124934C>A | CA413717485 | PGK1 | c.997C>A (p.Gln333Lys) c.913C>A (p.Gln305Lys) | |
| X | g.78124934C= | CA2439141094 | PGK1 | c.997C= (p.Gln333=) c.913C= (p.Gln305=) | |
| X | g.78124934C>G | CA10459810 | PGK1 | c.997C>G (p.Gln333Glu) c.913C>G (p.Gln305Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78124934C>T | CA413717491 | PGK1 | c.997C>T (p.Gln333Ter) c.913C>T (p.Gln305Ter) | |
| X | g.78124935A>C | CA413717495 | PGK1 | c.998A>C (p.Gln333Pro) c.914A>C (p.Gln305Pro) | |
| X | g.78124935A>G | CA413717498 | PGK1 | c.998A>G (p.Gln333Arg) c.914A>G (p.Gln305Arg) | |
| X | g.78124935A>T | CA413717501 | PGK1 | c.998A>T (p.Gln333Leu) c.914A>T (p.Gln305Leu) | |
| X | g.78124936G>A | CA517381285 | PGK1 | c.999G>A (p.Gln333=) c.915G>A (p.Gln305=) | |
| X | g.78124936G>C | CA413717504 | PGK1 | c.999G>C (p.Gln333His) c.915G>C (p.Gln305His) | |
| X | g.78124936G>T | CA413717506 | PGK1 | c.999G>T (p.Gln333His) c.915G>T (p.Gln305His) | |
| X | g.78124937A>C | CA413717512 | PGK1 | c.1000A>C (p.Ile334Leu) c.916A>C (p.Ile306Leu) | |
| X | g.78124937A>G | CA413717515 | PGK1 | c.1000A>G (p.Ile334Val) c.916A>G (p.Ile306Val) | |
| X | g.78124937A>T | CA413717518 | PGK1 | c.1000A>T (p.Ile334Phe) c.916A>T (p.Ile306Phe) | |
| X | g.78124938T>A | CA413717521 | PGK1 | c.1001T>A (p.Ile334Asn) c.917T>A (p.Ile306Asn) | |
| X | g.78124938T>C | CA413717527 | PGK1 | c.1001T>C (p.Ile334Thr) c.917T>C (p.Ile306Thr) | |
| X | g.78124938T>G | CA413717524 | PGK1 | c.1001T>G (p.Ile334Ser) c.917T>G (p.Ile306Ser) | |
| X | g.78124939T>A | CA517381290 | PGK1 | c.1002T>A (p.Ile334=) c.918T>A (p.Ile306=) | |
| X | g.78124939T>C | CA517381291 | PGK1 | c.1002T>C (p.Ile334=) c.918T>C (p.Ile306=) | |
| X | g.78124939T>G | CA413717530 | PGK1 | c.1002T>G (p.Ile334Met) c.918T>G (p.Ile306Met) | |
| X | g.78124940G>A | CA413717534 | PGK1 | c.1003G>A (p.Val335Met) c.919G>A (p.Val307Met) | gnomAD v3 gnomAD v4 |
| X | g.78124940G>C | CA413717537 | PGK1 | c.1003G>C (p.Val335Leu) c.919G>C (p.Val307Leu) | |
| X | g.78124940G>T | CA413717540 | PGK1 | c.1003G>T (p.Val335Leu) c.919G>T (p.Val307Leu) | |
| X | g.78124941T>A | CA413717544 | PGK1 | c.1004T>A (p.Val335Glu) c.920T>A (p.Val307Glu) | |
| X | g.78124941T>C | CA413717547 | PGK1 | c.1004T>C (p.Val335Ala) c.920T>C (p.Val307Ala) | |
| X | g.78124941T>G | CA413717548 | PGK1 | c.1004T>G (p.Val335Gly) c.920T>G (p.Val307Gly) | |
| X | g.78124942G>A | CA517381292 | PGK1 | c.1005G>A (p.Val335=) c.921G>A (p.Val307=) | |
| X | g.78124942G>C | CA517381293 | PGK1 | c.1005G>C (p.Val335=) c.921G>C (p.Val307=) | |
| X | g.78124942G>T | CA517381294 | PGK1 | c.1005G>T (p.Val335=) c.921G>T (p.Val307=) | dbSNP |
| X | g.78124943T>A | CA413717549 | PGK1 | c.1006T>A (p.Trp336Arg) c.922T>A (p.Trp308Arg) | |
| X | g.78124943T>C | CA413717550 | PGK1 | c.1006T>C (p.Trp336Arg) c.922T>C (p.Trp308Arg) | |
| X | g.78124943T>G | CA413717551 | PGK1 | c.1006T>G (p.Trp336Gly) c.922T>G (p.Trp308Gly) | |
| X | g.78124944G>A | CA413717563 | PGK1 | c.1007G>A (p.Trp336Ter) c.923G>A (p.Trp308Ter) n.1G>A | |
| X | g.78124944G>C | CA413717561 | PGK1 | c.1007G>C (p.Trp336Ser) c.923G>C (p.Trp308Ser) n.1G>C | |
| X | g.78124944G>T | CA413717558 | PGK1 | c.1007G>T (p.Trp336Leu) c.923G>T (p.Trp308Leu) n.1G>T | |
| X | g.78124944_78124955del | CA2821960806 | PGK1 | c.1007_1018del (p.Trp336_Val340delinsLeu) c.923_934del (p.Trp308_Val312delinsLeu) n.1_12del | |
| X | g.78124945G>A | CA413717574 | PGK1 | c.1008G>A (p.Trp336Ter) c.924G>A (p.Trp308Ter) n.2G>A | |
| X | g.78124945G>C | CA413717569 | PGK1 | c.1008G>C (p.Trp336Cys) c.924G>C (p.Trp308Cys) n.2G>C | |
| X | g.78124945G>T | CA413717571 | PGK1 | c.1008G>T (p.Trp336Cys) c.924G>T (p.Trp308Cys) n.2G>T | |
| X | g.78124946A>C | CA413717577 | PGK1 | c.1009A>C (p.Asn337His) c.925A>C (p.Asn309His) n.3A>C | |
| X | g.78124946A>G | CA413717580 | PGK1 | c.1009A>G (p.Asn337Asp) c.925A>G (p.Asn309Asp) n.3A>G | |
| X | g.78124946A>T | CA413717583 | PGK1 | c.1009A>T (p.Asn337Tyr) c.925A>T (p.Asn309Tyr) n.3A>T | |
| X | g.78124947A>C | CA413717587 | PGK1 | c.1010A>C (p.Asn337Thr) c.926A>C (p.Asn309Thr) n.4A>C | |
| X | g.78124947A>G | CA413717590 | PGK1 | c.1010A>G (p.Asn337Ser) c.926A>G (p.Asn309Ser) n.4A>G | |
| X | g.78124947A>T | CA413717593 | PGK1 | c.1010A>T (p.Asn337Ile) c.926A>T (p.Asn309Ile) n.4A>T | |
| X | g.78124948T>A | CA413717596 | PGK1 | c.1011T>A (p.Asn337Lys) c.927T>A (p.Asn309Lys) n.5T>A | |
| X | g.78124948T>C | CA517381297 | PGK1 | c.1011T>C (p.Asn337=) c.927T>C (p.Asn309=) n.5T>C | |
| X | g.78124948T>G | CA413717599 | PGK1 | c.1011T>G (p.Asn337Lys) c.927T>G (p.Asn309Lys) n.5T>G | |
| X | g.78124949G>A | CA413717603 | PGK1 | c.1012G>A (p.Gly338Ser) c.928G>A (p.Gly310Ser) n.6G>A | |
| X | g.78124949G>C | CA413717606 | PGK1 | c.1012G>C (p.Gly338Arg) c.928G>C (p.Gly310Arg) n.6G>C | |
| X | g.78124949G>T | CA413717610 | PGK1 | c.1012G>T (p.Gly338Cys) c.928G>T (p.Gly310Cys) n.6G>T | |
| X | g.78124950G>A | CA413717626 | PGK1 | c.1013G>A (p.Gly338Asp) c.929G>A (p.Gly310Asp) n.7G>A | |
| X | g.78124950G>C | CA413717615 | PGK1 | c.1013G>C (p.Gly338Ala) c.929G>C (p.Gly310Ala) n.7G>C | |
| X | g.78124950G>T | CA413717617 | PGK1 | c.1013G>T (p.Gly338Val) c.929G>T (p.Gly310Val) n.7G>T | |
| X | g.78124951T>A | CA517381299 | PGK1 | c.1014T>A (p.Gly338=) c.930T>A (p.Gly310=) n.8T>A | |
| X | g.78124951T>C | CA517381301 | PGK1 | c.1014T>C (p.Gly338=) c.930T>C (p.Gly310=) n.8T>C | |
| X | g.78124951T>G | CA517381302 | PGK1 | c.1014T>G (p.Gly338=) c.930T>G (p.Gly310=) n.8T>G | |
| X | g.78124952C>A | CA413717632 | PGK1 | c.1015C>A (p.Pro339Thr) c.931C>A (p.Pro311Thr) n.9C>A | COSMIC |
| X | g.78124952C>G | CA413717634 | PGK1 | c.1015C>G (p.Pro339Ala) c.931C>G (p.Pro311Ala) n.9C>G | |
| X | g.78124952C>T | CA413717638 | PGK1 | c.1015C>T (p.Pro339Ser) c.931C>T (p.Pro311Ser) n.9C>T | |
| X | g.78124953C>A | CA413717642 | PGK1 | c.1016C>A (p.Pro339His) c.932C>A (p.Pro311His) n.10C>A | |
| X | g.78124953C>G | CA413717645 | PGK1 | c.1016C>G (p.Pro339Arg) c.932C>G (p.Pro311Arg) n.10C>G | |
| X | g.78124953C>T | CA413717647 | PGK1 | c.1016C>T (p.Pro339Leu) c.932C>T (p.Pro311Leu) n.10C>T | |
| X | g.78124954T>A | CA517381304 | PGK1 | c.1017T>A (p.Pro339=) c.933T>A (p.Pro311=) n.11T>A | |
| X | g.78124954T>C | CA517381305 | PGK1 | c.1017T>C (p.Pro339=) c.933T>C (p.Pro311=) n.11T>C | gnomAD v4 |
| X | g.78124954T>G | CA517381306 | PGK1 | c.1017T>G (p.Pro339=) c.933T>G (p.Pro311=) n.11T>G | |
| X | g.78124955G>A | CA413717650 | PGK1 | c.1018G>A (p.Val340Met) c.934G>A (p.Val312Met) n.12G>A | dbSNP |
| X | g.78124955G>C | CA413717651 | PGK1 | c.1018G>C (p.Val340Leu) c.934G>C (p.Val312Leu) n.12G>C | |
| X | g.78124955G= | CA2439141095 | PGK1 | c.1018G= (p.Val340=) c.934G= (p.Val312=) n.12G= | |
| X | g.78124955G>T | CA413717652 | PGK1 | c.1018G>T (p.Val340Leu) c.934G>T (p.Val312Leu) n.12G>T | gnomAD v4 |
| X | g.78124956T>A | CA413717655 | PGK1 | c.1019T>A (p.Val340Glu) c.935T>A (p.Val312Glu) n.13T>A | |
| X | g.78124956T>C | CA413717656 | PGK1 | c.1019T>C (p.Val340Ala) c.935T>C (p.Val312Ala) n.13T>C | |
| X | g.78124956T>G | CA413717659 | PGK1 | c.1019T>G (p.Val340Gly) c.935T>G (p.Val312Gly) n.13T>G | |
| X | g.78124957G>A | CA517381310 | PGK1 | c.1020G>A (p.Val340=) c.936G>A (p.Val312=) n.14G>A | |
| X | g.78124957G>C | CA517381312 | PGK1 | c.1020G>C (p.Val340=) c.936G>C (p.Val312=) n.14G>C | |
| X | g.78124957G>T | CA517381311 | PGK1 | c.1020G>T (p.Val340=) c.936G>T (p.Val312=) n.14G>T | dbSNP |
| X | g.78124958G>A | CA413717666 | PGK1 | c.1021G>A (p.Gly341Arg) c.937G>A (p.Gly313Arg) n.15G>A | |
| X | g.78124958G>C | CA413717669 | PGK1 | c.1021G>C (p.Gly341Arg) c.937G>C (p.Gly313Arg) n.15G>C | |
| X | g.78124958G>T | CA413717663 | PGK1 | c.1021G>T (p.Gly341Trp) c.937G>T (p.Gly313Trp) n.15G>T | |
| X | g.78124959G>A | CA413717673 | PGK1 | c.1022G>A (p.Gly341Glu) c.938G>A (p.Gly313Glu) n.16G>A | |
| X | g.78124959G>C | CA413717679 | PGK1 | c.1022G>C (p.Gly341Ala) c.938G>C (p.Gly313Ala) n.16G>C | |
| X | g.78124959G>T | CA413717675 | PGK1 | c.1022G>T (p.Gly341Val) c.938G>T (p.Gly313Val) n.16G>T | |
| X | g.78124960G>A | CA517381314 | PGK1 | c.1023G>A (p.Gly341=) c.939G>A (p.Gly313=) n.17G>A | |
| X | g.78124960G>C | CA517381315 | PGK1 | c.1023G>C (p.Gly341=) c.939G>C (p.Gly313=) n.17G>C | |
| X | g.78124960G>T | CA517381316 | PGK1 | c.1023G>T (p.Gly341=) c.939G>T (p.Gly313=) n.17G>T | |
| X | g.78124961G>A | CA413717683 | PGK1 | c.1024G>A (p.Val342Ile) c.940G>A (p.Val314Ile) n.18G>A | gnomAD v4 |
| X | g.78124961G>C | CA413717685 | PGK1 | c.1024G>C (p.Val342Leu) c.940G>C (p.Val314Leu) n.18G>C | |
| X | g.78124961G>T | CA413717687 | PGK1 | c.1024G>T (p.Val342Leu) c.940G>T (p.Val314Leu) n.18G>T | |
| X | g.78124962T>A | CA413717692 | PGK1 | c.1025T>A (p.Val342Glu) c.941T>A (p.Val314Glu) n.19T>A | |
| X | g.78124962T>C | CA413717695 | PGK1 | c.1025T>C (p.Val342Ala) c.941T>C (p.Val314Ala) n.19T>C | |
| X | g.78124962T>G | CA413717697 | PGK1 | c.1025T>G (p.Val342Gly) c.941T>G (p.Val314Gly) n.19T>G | |
| X | g.78124963A= | CA2439141096 | PGK1 | c.1026A= (p.Val342=) c.942A= (p.Val314=) n.20A= | |
| X | g.78124963A>C | CA517381318 | PGK1 | c.1026A>C (p.Val342=) c.942A>C (p.Val314=) n.20A>C | |
| X | g.78124963A>G | CA10459811 | PGK1 | c.1026A>G (p.Val342=) c.942A>G (p.Val314=) n.20A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78124963A>T | CA517381320 | PGK1 | c.1026A>T (p.Val342=) c.942A>T (p.Val314=) n.20A>T | |
| X | g.78124964T>A | CA413717710 | PGK1 | c.1027T>A (p.Phe343Ile) c.943T>A (p.Phe315Ile) n.21T>A | |
| X | g.78124964T>C | CA413717705 | PGK1 | c.1027T>C (p.Phe343Leu) c.943T>C (p.Phe315Leu) n.21T>C | |
| X | g.78124964T>G | CA413717707 | PGK1 | c.1027T>G (p.Phe343Val) c.943T>G (p.Phe315Val) n.21T>G | |
| X | g.78124965T>A | CA413717715 | PGK1 | c.1028T>A (p.Phe343Tyr) c.944T>A (p.Phe315Tyr) n.22T>A | |
| X | g.78124965T>C | CA413717716 | PGK1 | c.1028T>C (p.Phe343Ser) c.944T>C (p.Phe315Ser) n.22T>C | ClinVar dbSNP |
| X | g.78124965T>G | CA413717719 | PGK1 | c.1028T>G (p.Phe343Cys) c.944T>G (p.Phe315Cys) n.22T>G | |
| X | g.78124965T= | CA2439141097 | PGK1 | c.1028T= (p.Phe343=) c.944T= (p.Phe315=) n.22T= | |
| X | g.78124966T>A | CA413717723 | PGK1 | c.1029T>A (p.Phe343Leu) c.945T>A (p.Phe315Leu) n.23T>A | gnomAD v4 |
| X | g.78124966T>C | CA517381322 | PGK1 | c.1029T>C (p.Phe343=) c.945T>C (p.Phe315=) n.23T>C | |
| X | g.78124966T>G | CA413717725 | PGK1 | c.1029T>G (p.Phe343Leu) c.945T>G (p.Phe315Leu) n.23T>G | |
| X | g.78124967G>A | CA413717730 | PGK1 | c.1030G>A (p.Glu344Lys) c.946G>A (p.Glu316Lys) n.24G>A | |
| X | g.78124967G>C | CA413717736 | PGK1 | c.1030G>C (p.Glu344Gln) c.946G>C (p.Glu316Gln) n.24G>C | |
| X | g.78124967G>T | CA413717733 | PGK1 | c.1030G>T (p.Glu344Ter) c.946G>T (p.Glu316Ter) n.24G>T | |
| X | g.78124968A>C | CA413717740 | PGK1 | c.1031A>C (p.Glu344Ala) c.947A>C (p.Glu316Ala) n.25A>C | |
| X | g.78124968A>G | CA413717743 | PGK1 | c.1031A>G (p.Glu344Gly) c.947A>G (p.Glu316Gly) n.25A>G | |
| X | g.78124968A>T | CA413717747 | PGK1 | c.1031A>T (p.Glu344Val) c.947A>T (p.Glu316Val) n.25A>T | |
| X | g.78124969A>C | CA413717751 | PGK1 | c.1032A>C (p.Glu344Asp) c.948A>C (p.Glu316Asp) n.26A>C | |
| X | g.78124969A>G | CA517381328 | PGK1 | c.1032A>G (p.Glu344=) c.948A>G (p.Glu316=) n.26A>G | |
| X | g.78124969A>T | CA413717752 | PGK1 | c.1032A>T (p.Glu344Asp) c.948A>T (p.Glu316Asp) n.26A>T | |
| X | g.78124970T>A | CA413717755 | PGK1 | c.1033T>A (p.Trp345Arg) c.949T>A (p.Trp317Arg) n.27T>A | |
| X | g.78124970T>C | CA413717757 | PGK1 | c.1033T>C (p.Trp345Arg) c.949T>C (p.Trp317Arg) n.27T>C | |
| X | g.78124970T>G | CA413717760 | PGK1 | c.1033T>G (p.Trp345Gly) c.949T>G (p.Trp317Gly) n.27T>G | |
| X | g.78124971G>A | CA413717762 | PGK1 | c.1034G>A (p.Trp345Ter) c.950G>A (p.Trp317Ter) n.28G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.78124971G>C | CA413717765 | PGK1 | c.1034G>C (p.Trp345Ser) c.950G>C (p.Trp317Ser) n.28G>C | |
| X | g.78124971G= | CA2439141098 | PGK1 | c.1034G= (p.Trp345=) c.950G= (p.Trp317=) n.28G= | |
| X | g.78124971G>T | CA413717767 | PGK1 | c.1034G>T (p.Trp345Leu) c.950G>T (p.Trp317Leu) n.28G>T | |
| X | g.78124972G>A | CA413717769 | PGK1 | c.1035G>A (p.Trp345Ter) c.951G>A (p.Trp317Ter) n.29G>A | |
| X | g.78124972G>C | CA413717774 | PGK1 | c.1035G>C (p.Trp345Cys) c.951G>C (p.Trp317Cys) n.29G>C | dbSNP |
| X | g.78124972G>T | CA413717771 | PGK1 | c.1035G>T (p.Trp345Cys) c.951G>T (p.Trp317Cys) n.29G>T | |
| X | g.78124973G>A | CA413717777 | PGK1 | c.1036G>A (p.Glu346Lys) c.952G>A (p.Glu318Lys) n.30G>A | |
| X | g.78124973G>C | CA413717780 | PGK1 | c.1036G>C (p.Glu346Gln) c.952G>C (p.Glu318Gln) n.30G>C | |
| X | g.78124973G>T | CA413717783 | PGK1 | c.1036G>T (p.Glu346Ter) c.952G>T (p.Glu318Ter) n.30G>T | |
| X | g.78124974A>C | CA413717786 | PGK1 | c.1037A>C (p.Glu346Ala) c.953A>C (p.Glu318Ala) n.31A>C | |
| X | g.78124974A>G | CA413717789 | PGK1 | c.1037A>G (p.Glu346Gly) c.953A>G (p.Glu318Gly) n.31A>G | |
| X | g.78124974A>T | CA413717790 | PGK1 | c.1037A>T (p.Glu346Val) c.953A>T (p.Glu318Val) n.31A>T | |
| X | g.78124975A>C | CA413717791 | PGK1 | c.1038A>C (p.Glu346Asp) c.954A>C (p.Glu318Asp) n.32A>C | |
| X | g.78124975A>G | CA517381333 | PGK1 | c.1038A>G (p.Glu346=) c.954A>G (p.Glu318=) n.32A>G | |
| X | g.78124975A>T | CA413717793 | PGK1 | c.1038A>T (p.Glu346Asp) c.954A>T (p.Glu318Asp) n.32A>T | |
| X | g.78124976G>A | CA413717795 | PGK1 | c.1039G>A (p.Ala347Thr) c.955G>A (p.Ala319Thr) n.33G>A | gnomAD v4 |
| X | g.78124976G>C | CA413717797 | PGK1 | c.1039G>C (p.Ala347Pro) c.955G>C (p.Ala319Pro) n.33G>C | |
| X | g.78124976G>T | CA413717798 | PGK1 | c.1039G>T (p.Ala347Ser) c.955G>T (p.Ala319Ser) n.33G>T | |
| X | g.78124977C>A | CA413717807 | PGK1 | c.1040C>A (p.Ala347Asp) c.956C>A (p.Ala319Asp) n.34C>A | |
| X | g.78124977C>G | CA413717804 | PGK1 | c.1040C>G (p.Ala347Gly) c.956C>G (p.Ala319Gly) n.34C>G | |
| X | g.78124977C>T | CA413717802 | PGK1 | c.1040C>T (p.Ala347Val) c.956C>T (p.Ala319Val) n.34C>T | |
| X | g.78124978T>A | CA517381336 | PGK1 | c.1041T>A (p.Ala347=) c.957T>A (p.Ala319=) n.35T>A | |
| X | g.78124978T>C | CA517381337 | PGK1 | c.1041T>C (p.Ala347=) c.957T>C (p.Ala319=) n.35T>C | dbSNP |
| X | g.78124978T>G | CA517381338 | PGK1 | c.1041T>G (p.Ala347=) c.957T>G (p.Ala319=) n.35T>G | |
| X | g.78124979T>A | CA413717811 | PGK1 | c.1042T>A (p.Phe348Ile) c.958T>A (p.Phe320Ile) n.36T>A | |
| X | g.78124979T>C | CA413717814 | PGK1 | c.1042T>C (p.Phe348Leu) c.958T>C (p.Phe320Leu) n.36T>C | |
| X | g.78124979T>G | CA413717818 | PGK1 | c.1042T>G (p.Phe348Val) c.958T>G (p.Phe320Val) n.36T>G | |
| X | g.78124980T>A | CA413717822 | PGK1 | c.1043T>A (p.Phe348Tyr) c.959T>A (p.Phe320Tyr) n.37T>A | |
| X | g.78124980T>C | CA413717824 | PGK1 | c.1043T>C (p.Phe348Ser) c.959T>C (p.Phe320Ser) n.37T>C | |
| X | g.78124980T>G | CA413717827 | PGK1 | c.1043T>G (p.Phe348Cys) c.959T>G (p.Phe320Cys) n.37T>G | ClinVar dbSNP |
| X | g.78124981T>A | CA413717832 | PGK1 | c.1044T>A (p.Phe348Leu) c.960T>A (p.Phe320Leu) n.38T>A | |
| X | g.78124981T>C | CA10459812 | PGK1 | c.1044T>C (p.Phe348=) c.960T>C (p.Phe320=) n.38T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78124981T>G | CA413717837 | PGK1 | c.1044T>G (p.Phe348Leu) c.960T>G (p.Phe320Leu) n.38T>G | |
| X | g.78124981T= | CA2439141099 | PGK1 | c.1044T= (p.Phe348=) c.960T= (p.Phe320=) n.38T= | |
| X | g.78124982G>A | CA413717841 | PGK1 | c.1045G>A (p.Ala349Thr) c.961G>A (p.Ala321Thr) n.39G>A | |
| X | g.78124982G>C | CA413717844 | PGK1 | c.1045G>C (p.Ala349Pro) c.961G>C (p.Ala321Pro) n.39G>C | |
| X | g.78124982G>T | CA413717848 | PGK1 | c.1045G>T (p.Ala349Ser) c.961G>T (p.Ala321Ser) n.39G>T | |
| X | g.78124983C>A | CA413717855 | PGK1 | c.1046C>A (p.Ala349Asp) c.962C>A (p.Ala321Asp) n.40C>A | |
| X | g.78124983C>G | CA413717853 | PGK1 | c.1046C>G (p.Ala349Gly) c.962C>G (p.Ala321Gly) n.40C>G | |
| X | g.78124983C>T | CA413717851 | PGK1 | c.1046C>T (p.Ala349Val) c.962C>T (p.Ala321Val) n.40C>T | |
| X | g.78124984C>A | CA517381341 | PGK1 | c.1047C>A (p.Ala349=) c.963C>A (p.Ala321=) n.41C>A | |
| X | g.78124984C>G | CA517381340 | PGK1 | c.1047C>G (p.Ala349=) c.963C>G (p.Ala321=) n.41C>G | |
| X | g.78124984C>T | CA517381339 | PGK1 | c.1047C>T (p.Ala349=) c.963C>T (p.Ala321=) n.41C>T | |
| X | g.78124985C>A | CA517381343 | PGK1 | c.1048C>A (p.Arg350=) c.964C>A (p.Arg322=) n.42C>A | dbSNP |
| X | g.78124985C= | CA2439141100 | PGK1 | c.1048C= (p.Arg350=) c.964C= (p.Arg322=) n.42C= | |
| X | g.78124985C>G | CA413717857 | PGK1 | c.1048C>G (p.Arg350Gly) c.964C>G (p.Arg322Gly) n.42C>G | gnomAD v4 |
| X | g.78124985C>T | CA10459813 | PGK1 | c.1048C>T (p.Arg350Trp) c.964C>T (p.Arg322Trp) n.42C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.78124986G>A | CA10459814 | PGK1 | c.1049G>A (p.Arg350Gln) c.965G>A (p.Arg322Gln) n.43G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78124986G>C | CA413717861 | PGK1 | c.1049G>C (p.Arg350Pro) c.965G>C (p.Arg322Pro) n.43G>C | |
| X | g.78124986G= | CA2439141101 | PGK1 | c.1049G= (p.Arg350=) c.965G= (p.Arg322=) n.43G= | |
| X | g.78124986G>T | CA413717863 | PGK1 | c.1049G>T (p.Arg350Leu) c.965G>T (p.Arg322Leu) n.43G>T | |
| X | g.78124987G>A | CA10459815 | PGK1 | c.1050G>A (p.Arg350=) c.966G>A (p.Arg322=) n.44G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78124987G>C | CA517381344 | PGK1 | c.1050G>C (p.Arg350=) c.966G>C (p.Arg322=) n.44G>C | |
| X | g.78124987G= | CA2439141102 | PGK1 | c.1050G= (p.Arg350=) c.966G= (p.Arg322=) n.44G= | |
| X | g.78124987G>T | CA517381345 | PGK1 | c.1050G>T (p.Arg350=) c.966G>T (p.Arg322=) n.44G>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.78124988G>A | CA413717871 | PGK1 | c.1051G>A (p.Gly351Arg) c.967G>A (p.Gly323Arg) n.45G>A | gnomAD v4 |
| X | g.78124988G>C | CA413717873 | PGK1 | c.1051G>C (p.Gly351Arg) c.967G>C (p.Gly323Arg) n.45G>C | |
| X | g.78124988G>T | CA413717876 | PGK1 | c.1051G>T (p.Gly351Ter) c.967G>T (p.Gly323Ter) n.45G>T | |
| X | g.78124989G>A | CA413717878 | PGK1 | c.1052G>A (p.Gly351Glu) c.968G>A (p.Gly323Glu) n.46G>A | |
| X | g.78124989G>C | CA413717880 | PGK1 | c.1052G>C (p.Gly351Ala) c.968G>C (p.Gly323Ala) n.46G>C | |
| X | g.78124989G>T | CA413717882 | PGK1 | c.1052G>T (p.Gly351Val) c.968G>T (p.Gly323Val) n.46G>T | COSMIC |
| X | g.78124990A= | CA2439141103 | PGK1 | c.1053A= (p.Gly351=) c.969A= (p.Gly323=) n.47A= | |
| X | g.78124990A>C | CA517381346 | PGK1 | c.1053A>C (p.Gly351=) c.969A>C (p.Gly323=) n.47A>C | |
| X | g.78124990A>G | CA517381348 | PGK1 | c.1053A>G (p.Gly351=) c.969A>G (p.Gly323=) n.47A>G | |
| X | g.78124990A>T | CA331586248 | PGK1 | c.1053A>T (p.Gly351=) c.969A>T (p.Gly323=) n.47A>T | dbSNP |
| X | g.78124991A= | CA2439141104 | PGK1 | c.1054A= (p.Thr352=) c.970A= (p.Thr324=) n.48A= | |
| X | g.78124991A>C | CA413717883 | PGK1 | c.1054A>C (p.Thr352Pro) c.970A>C (p.Thr324Pro) n.48A>C | |
| X | g.78124991A>G | CA413717884 | PGK1 | c.1054A>G (p.Thr352Ala) c.970A>G (p.Thr324Ala) n.48A>G | dbSNP gnomAD v4 |
| X | g.78124991A>T | CA413717887 | PGK1 | c.1054A>T (p.Thr352Ser) c.970A>T (p.Thr324Ser) n.48A>T | |
| X | g.78124992C>A | CA120822 | PGK1 | c.1055C>A (p.Thr352Asn) c.971C>A (p.Thr324Asn) n.49C>A | ClinVar dbSNP gnomAD v4 |
| X | g.78124992C= | CA2439141105 | PGK1 | c.1055C= (p.Thr352=) c.971C= (p.Thr324=) n.49C= | |
| X | g.78124992C>G | CA413717888 | PGK1 | c.1055C>G (p.Thr352Ser) c.971C>G (p.Thr324Ser) n.49C>G | |
| X | g.78124992C>T | CA413717889 | PGK1 | c.1055C>T (p.Thr352Ile) c.971C>T (p.Thr324Ile) n.49C>T | |
| X | g.78124993C>A | CA517381349 | PGK1 | c.1056C>A (p.Thr352=) c.972C>A (p.Thr324=) n.50C>A | gnomAD v4 |
| X | g.78124993C>G | CA517381350 | PGK1 | c.1056C>G (p.Thr352=) c.972C>G (p.Thr324=) n.50C>G | gnomAD v4 |
| X | g.78124993C>T | CA517381351 | PGK1 | c.1056C>T (p.Thr352=) c.972C>T (p.Thr324=) n.50C>T |