Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42910912_42911425delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA | CA2260697314 | G6PC1 | c.563-3_1073delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA c.447-3_*465delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA c.486-3_*465delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA | |
17 | g.42910915_42911427del | CA1139665564 | G6PC1 | c.563_*1del c.447_*467del c.486_*467del | ClinVar dbSNP |
17 | g.42911145del | CA2695226082 | G6PC1 | c.793del (p.Leu265TrpfsTer?) c.*185del (n.*185del) | |
17 | g.42911145C>A | CA399656312 | G6PC1 | c.793C>A (p.Leu265Met) c.*185C>A (n.*185C>A) | |
17 | g.42911145C= | CA2260697410 | G6PC1 | c.793C= (p.Leu265=) c.*185C= (n.*185C=) | |
17 | g.42911145C>G | CA8587650 | G6PC1 | c.793C>G (p.Leu265Val) c.*185C>G (n.*185C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911145C>T | CA500229501 | G6PC1 | c.793C>T (p.Leu265=) c.*185C>T (n.*185C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911146T>A | CA399656321 | G6PC1 | c.794T>A (p.Leu265Gln) c.*186T>A (n.*186T>A) | |
17 | g.42911146T>C | CA399656324 | G6PC1 | c.794T>C (p.Leu265Pro) c.*186T>C (n.*186T>C) | gnomAD v4 |
17 | g.42911146T>G | CA399656322 | G6PC1 | c.794T>G (p.Leu265Arg) c.*186T>G (n.*186T>G) | |
17 | g.42911147G>A | CA500229503 | G6PC1 | c.795G>A (p.Leu265=) c.*187G>A (n.*187G>A) | |
17 | g.42911147G>C | CA500229504 | G6PC1 | c.795G>C (p.Leu265=) c.*187G>C (n.*187G>C) | |
17 | g.42911147G>T | CA500229505 | G6PC1 | c.795G>T (p.Leu265=) c.*187G>T (n.*187G>T) | |
17 | g.42911148G>A | CA399656327 | G6PC1 | c.796G>A (p.Gly266Ser) c.*188G>A (n.*188G>A) | ClinVar dbSNP |
17 | g.42911148G>C | CA399656328 | G6PC1 | c.796G>C (p.Gly266Arg) c.*188G>C (n.*188G>C) | |
17 | g.42911148G>T | CA399656330 | G6PC1 | c.796G>T (p.Gly266Cys) c.*188G>T (n.*188G>T) | |
17 | g.42911149G>A | CA399656333 | G6PC1 | c.797G>A (p.Gly266Asp) c.*189G>A (n.*189G>A) | COSMIC |
17 | g.42911149G>C | CA399656334 | G6PC1 | c.797G>C (p.Gly266Ala) c.*189G>C (n.*189G>C) | |
17 | g.42911149G>T | CA399656336 | G6PC1 | c.797G>T (p.Gly266Val) c.*189G>T (n.*189G>T) | |
17 | g.42911149_42911150delinsGC | CA2260697411 | G6PC1 | c.797_798delinsGC (p.Gly266=) c.*189_*190delinsGC (n.*189_*190delinsGC) | |
17 | g.42911150del | CA8587651 | G6PC1 | c.798del (p.Thr267ArgfsTer?) c.*190del (n.*190del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911150C>A | CA500229507 | G6PC1 | c.798C>A (p.Gly266=) c.*190C>A (n.*190C>A) | |
17 | g.42911150C= | CA2260697412 | G6PC1 | c.798C= (p.Gly266=) c.*190C= (n.*190C=) | |
17 | g.42911150C>G | CA500229508 | G6PC1 | c.798C>G (p.Gly266=) c.*190C>G (n.*190C>G) | |
17 | g.42911150C>T | CA500229509 | G6PC1 | c.798C>T (p.Gly266=) c.*190C>T (n.*190C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911151A>C | CA399656345 | G6PC1 | c.799A>C (p.Thr267Pro) c.*191A>C (n.*191A>C) | |
17 | g.42911151A>G | CA399656340 | G6PC1 | c.799A>G (p.Thr267Ala) c.*191A>G (n.*191A>G) | |
17 | g.42911151A>T | CA399656342 | G6PC1 | c.799A>T (p.Thr267Ser) c.*191A>T (n.*191A>T) | |
17 | g.42911152C>A | CA290789944 | G6PC1 | c.800C>A (p.Thr267Lys) c.*192C>A (n.*192C>A) | dbSNP |
17 | g.42911152C= | CA2260697413 | G6PC1 | c.800C= (p.Thr267=) c.*192C= (n.*192C=) | |
17 | g.42911152C>G | CA399656348 | G6PC1 | c.800C>G (p.Thr267Arg) c.*192C>G (n.*192C>G) | ClinVar gnomAD v4 |
17 | g.42911152C>T | CA8587652 | G6PC1 | c.800C>T (p.Thr267Met) c.*192C>T (n.*192C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911153G>A | CA8587653 | G6PC1 | c.801G>A (p.Thr267=) c.*193G>A (n.*193G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911153G>C | CA290789955 | G6PC1 | c.801G>C (p.Thr267=) c.*193G>C (n.*193G>C) | dbSNP |
17 | g.42911153G= | CA2260697414 | G6PC1 | c.801G= (p.Thr267=) c.*193G= (n.*193G=) | |
17 | g.42911153G>T | CA500229511 | G6PC1 | c.801G>T (p.Thr267=) c.*193G>T (n.*193G>T) | ClinVar dbSNP |
17 | g.42911154C>A | CA399656354 | G6PC1 | c.802C>A (p.Leu268Ile) c.*194C>A (n.*194C>A) | |
17 | g.42911154C= | CA2260697415 | G6PC1 | c.802C= (p.Leu268=) c.*194C= (n.*194C=) | |
17 | g.42911154C>G | CA399656359 | G6PC1 | c.802C>G (p.Leu268Val) c.*194C>G (n.*194C>G) | |
17 | g.42911154C>T | CA399656356 | G6PC1 | c.802C>T (p.Leu268Phe) c.*194C>T (n.*194C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911155T>A | CA399656362 | G6PC1 | c.803T>A (p.Leu268His) c.*195T>A (n.*195T>A) | |
17 | g.42911155T>C | CA399656363 | G6PC1 | c.803T>C (p.Leu268Pro) c.*195T>C (n.*195T>C) | |
17 | g.42911155T>G | CA399656366 | G6PC1 | c.803T>G (p.Leu268Arg) c.*195T>G (n.*195T>G) | |
17 | g.42911156C>A | CA500229515 | G6PC1 | c.804C>A (p.Leu268=) c.*196C>A (n.*196C>A) | |
17 | g.42911156C= | CA2260697416 | G6PC1 | c.804C= (p.Leu268=) c.*196C= (n.*196C=) | |
17 | g.42911156C>G | CA500229516 | G6PC1 | c.804C>G (p.Leu268=) c.*196C>G (n.*196C>G) | |
17 | g.42911156C>T | CA8587654 | G6PC1 | c.804C>T (p.Leu268=) c.*196C>T (n.*196C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911157T>A | CA399656370 | G6PC1 | c.805T>A (p.Phe269Ile) c.*197T>A (n.*197T>A) | |
17 | g.42911157T>C | CA399656372 | G6PC1 | c.805T>C (p.Phe269Leu) c.*197T>C (n.*197T>C) | |
17 | g.42911157T>G | CA399656374 | G6PC1 | c.805T>G (p.Phe269Val) c.*197T>G (n.*197T>G) | |
17 | g.42911158T>A | CA399656377 | G6PC1 | c.806T>A (p.Phe269Tyr) c.*198T>A (n.*198T>A) | |
17 | g.42911158T>C | CA8587655 | G6PC1 | c.806T>C (p.Phe269Ser) c.*198T>C (n.*198T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911158T>G | CA399656379 | G6PC1 | c.806T>G (p.Phe269Cys) c.*198T>G (n.*198T>G) | |
17 | g.42911158T= | CA2260697417 | G6PC1 | c.806T= (p.Phe269=) c.*198T= (n.*198T=) | |
17 | g.42911159T>A | CA399656382 | G6PC1 | c.807T>A (p.Phe269Leu) c.*199T>A (n.*199T>A) | |
17 | g.42911159T>C | CA500229522 | G6PC1 | c.807T>C (p.Phe269=) c.*199T>C (n.*199T>C) | |
17 | g.42911159T>G | CA399656385 | G6PC1 | c.807T>G (p.Phe269Leu) c.*199T>G (n.*199T>G) | |
17 | g.42911160G>A | CA399656386 | G6PC1 | c.808G>A (p.Gly270Ser) c.*200G>A (n.*200G>A) | gnomAD v4 |
17 | g.42911160G>C | CA399656391 | G6PC1 | c.808G>C (p.Gly270Arg) c.*200G>C (n.*200G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911160G= | CA2260697418 | G6PC1 | c.808G= (p.Gly270=) c.*200G= (n.*200G=) | |
17 | g.42911160G>T | CA399656389 | G6PC1 | c.808G>T (p.Gly270Cys) c.*200G>T (n.*200G>T) | |
17 | g.42911161G>A | CA399656394 | G6PC1 | c.809G>A (p.Gly270Asp) c.*201G>A (n.*201G>A) | ClinVar |
17 | g.42911161G>C | CA399656396 | G6PC1 | c.809G>C (p.Gly270Ala) c.*201G>C (n.*201G>C) | |
17 | g.42911161G= | CA2260697419 | G6PC1 | c.809G= (p.Gly270=) c.*201G= (n.*201G=) | |
17 | g.42911161G>T | CA341569 | G6PC1 | c.809G>T (p.Gly270Val) c.*201G>T (n.*201G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911162C>A | CA500229527 | G6PC1 | c.810C>A (p.Gly270=) c.*202C>A (n.*202C>A) | |
17 | g.42911162C= | CA2260697420 | G6PC1 | c.810C= (p.Gly270=) c.*202C= (n.*202C=) | |
17 | g.42911162C>G | CA500229528 | G6PC1 | c.810C>G (p.Gly270=) c.*202C>G (n.*202C>G) | ClinVar gnomAD v4 |
17 | g.42911162C>T | CA290789962 | G6PC1 | c.810C>T (p.Gly270=) c.*202C>T (n.*202C>T) | dbSNP gnomAD v4 |
17 | g.42911163C>A | CA399656400 | G6PC1 | c.811C>A (p.Leu271Met) c.*203C>A (n.*203C>A) | |
17 | g.42911163C>G | CA399656402 | G6PC1 | c.811C>G (p.Leu271Val) c.*203C>G (n.*203C>G) | |
17 | g.42911163C>T | CA500229529 | G6PC1 | c.811C>T (p.Leu271=) c.*203C>T (n.*203C>T) | ClinVar dbSNP |
17 | g.42911163_42911164delinsCT | CA2260697421 | G6PC1 | c.811_812delinsCT (p.Leu271=) c.*203_*204delinsCT (n.*203_*204delinsCT) | |
17 | g.42911164del | CA772150938 | G6PC1 | c.812del (p.Leu271ArgfsTer30) c.*204del (n.*204del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911164T>A | CA399656405 | G6PC1 | c.812T>A (p.Leu271Gln) c.*204T>A (n.*204T>A) | |
17 | g.42911164T>C | CA399656407 | G6PC1 | c.812T>C (p.Leu271Pro) c.*204T>C (n.*204T>C) | |
17 | g.42911164T>G | CA399656410 | G6PC1 | c.812T>G (p.Leu271Arg) c.*204T>G (n.*204T>G) | |
17 | g.42911165G>A | CA500229532 | G6PC1 | c.813G>A (p.Leu271=) c.*205G>A (n.*205G>A) | |
17 | g.42911165G>C | CA290789963 | G6PC1 | c.813G>C (p.Leu271=) c.*205G>C (n.*205G>C) | ClinVar dbSNP |
17 | g.42911165G= | CA2260697422 | G6PC1 | c.813G= (p.Leu271=) c.*205G= (n.*205G=) | |
17 | g.42911165G>T | CA500229531 | G6PC1 | c.813G>T (p.Leu271=) c.*205G>T (n.*205G>T) | |
17 | g.42911166G>A | CA399656414 | G6PC1 | c.814G>A (p.Gly272Arg) c.*206G>A (n.*206G>A) | |
17 | g.42911166G>C | CA399656418 | G6PC1 | c.814G>C (p.Gly272Arg) c.*206G>C (n.*206G>C) | |
17 | g.42911166G>T | CA399656419 | G6PC1 | c.814G>T (p.Gly272Trp) c.*206G>T (n.*206G>T) | gnomAD v4 |
17 | g.42911167G>A | CA399656426 | G6PC1 | c.815G>A (p.Gly272Glu) c.*207G>A (n.*207G>A) | |
17 | g.42911167G>C | CA399656420 | G6PC1 | c.815G>C (p.Gly272Ala) c.*207G>C (n.*207G>C) | |
17 | g.42911167G>T | CA399656423 | G6PC1 | c.815G>T (p.Gly272Val) c.*207G>T (n.*207G>T) | |
17 | g.42911168G>A | CA8587656 | G6PC1 | c.816G>A (p.Gly272=) c.*208G>A (n.*208G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911168G>C | CA500229534 | G6PC1 | c.816G>C (p.Gly272=) c.*208G>C (n.*208G>C) | |
17 | g.42911168G= | CA2260697423 | G6PC1 | c.816G= (p.Gly272=) c.*208G= (n.*208G=) | |
17 | g.42911168G>T | CA500229535 | G6PC1 | c.816G>T (p.Gly272=) c.*208G>T (n.*208G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911169C>A | CA399656429 | G6PC1 | c.817C>A (p.Leu273Met) c.*209C>A (n.*209C>A) | |
17 | g.42911169C>G | CA399656431 | G6PC1 | c.817C>G (p.Leu273Val) c.*209C>G (n.*209C>G) | |
17 | g.42911169C>T | CA500229537 | G6PC1 | c.817C>T (p.Leu273=) c.*209C>T (n.*209C>T) | |
17 | g.42911170T>A | CA399656434 | G6PC1 | c.818T>A (p.Leu273Gln) c.*210T>A (n.*210T>A) | |
17 | g.42911170T>C | CA399656436 | G6PC1 | c.818T>C (p.Leu273Pro) c.*210T>C (n.*210T>C) | gnomAD v4 |
17 | g.42911170T>G | CA399656437 | G6PC1 | c.818T>G (p.Leu273Arg) c.*210T>G (n.*210T>G) | |
17 | g.42911171G>A | CA500229542 | G6PC1 | c.819G>A (p.Leu273=) c.*211G>A (n.*211G>A) | gnomAD v4 |
17 | g.42911171G>C | CA500229543 | G6PC1 | c.819G>C (p.Leu273=) c.*211G>C (n.*211G>C) | |
17 | g.42911171G>T | CA500229544 | G6PC1 | c.819G>T (p.Leu273=) c.*211G>T (n.*211G>T) | |
17 | g.42911172G>A | CA8587657 | G6PC1 | c.820G>A (p.Ala274Thr) c.*212G>A (n.*212G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911172G>C | CA399656440 | G6PC1 | c.820G>C (p.Ala274Pro) c.*212G>C (n.*212G>C) | |
17 | g.42911172G= | CA2260697424 | G6PC1 | c.820G= (p.Ala274=) c.*212G= (n.*212G=) | |
17 | g.42911172G>T | CA399656443 | G6PC1 | c.820G>T (p.Ala274Ser) c.*212G>T (n.*212G>T) | gnomAD v4 |
17 | g.42911173C>A | CA399656447 | G6PC1 | c.821C>A (p.Ala274Asp) c.*213C>A (n.*213C>A) | |
17 | g.42911173C= | CA2260697425 | G6PC1 | c.821C= (p.Ala274=) c.*213C= (n.*213C=) | |
17 | g.42911173C>G | CA399656448 | G6PC1 | c.821C>G (p.Ala274Gly) c.*213C>G (n.*213C>G) | |
17 | g.42911173C>T | CA8587658 | G6PC1 | c.821C>T (p.Ala274Val) c.*213C>T (n.*213C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911174T>A | CA500229545 | G6PC1 | c.822T>A (p.Ala274=) c.*214T>A (n.*214T>A) | |
17 | g.42911174T>C | CA8587659 | G6PC1 | c.822T>C (p.Ala274=) c.*214T>C (n.*214T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911174T>G | CA500229547 | G6PC1 | c.822T>G (p.Ala274=) c.*214T>G (n.*214T>G) | |
17 | g.42911174T= | CA2260697426 | G6PC1 | c.822T= (p.Ala274=) c.*214T= (n.*214T=) | |
17 | g.42911175C>A | CA399656453 | G6PC1 | c.823C>A (p.Leu275Ile) c.*215C>A (n.*215C>A) | |
17 | g.42911175C= | CA2260697427 | G6PC1 | c.823C= (p.Leu275=) c.*215C= (n.*215C=) | |
17 | g.42911175C>G | CA290789999 | G6PC1 | c.823C>G (p.Leu275Val) c.*215C>G (n.*215C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911175C>T | CA399656455 | G6PC1 | c.823C>T (p.Leu275Phe) c.*215C>T (n.*215C>T) | |
17 | g.42911178_42911182del | CA2580093787 | G6PC1 | c.826_830del (p.Asn276GlnfsTer?) c.*218_*222del (n.*218_*222del) | ClinVar |
17 | g.42911176T>A | CA399656457 | G6PC1 | c.824T>A (p.Leu275His) c.*216T>A (n.*216T>A) | |
17 | g.42911176T>C | CA399656462 | G6PC1 | c.824T>C (p.Leu275Pro) c.*216T>C (n.*216T>C) | |
17 | g.42911176T>G | CA399656459 | G6PC1 | c.824T>G (p.Leu275Arg) c.*216T>G (n.*216T>G) | |
17 | g.42911177C>A | CA8587660 | G6PC1 | c.825C>A (p.Leu275=) c.*217C>A (n.*217C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911177C= | CA2260697428 | G6PC1 | c.825C= (p.Leu275=) c.*217C= (n.*217C=) | |
17 | g.42911177C>G | CA500229549 | G6PC1 | c.825C>G (p.Leu275=) c.*217C>G (n.*217C>G) | |
17 | g.42911177C>T | CA500229550 | G6PC1 | c.825C>T (p.Leu275=) c.*217C>T (n.*217C>T) | |
17 | g.42911178A>C | CA399656465 | G6PC1 | c.826A>C (p.Asn276His) c.*218A>C (n.*218A>C) | |
17 | g.42911178A>G | CA399656466 | G6PC1 | c.826A>G (p.Asn276Asp) c.*218A>G (n.*218A>G) | |
17 | g.42911178A>T | CA399656468 | G6PC1 | c.826A>T (p.Asn276Tyr) c.*218A>T (n.*218A>T) | |
17 | g.42911179A>C | CA399656472 | G6PC1 | c.827A>C (p.Asn276Thr) c.*219A>C (n.*219A>C) | |
17 | g.42911179A>G | CA399656475 | G6PC1 | c.827A>G (p.Asn276Ser) c.*219A>G (n.*219A>G) | |
17 | g.42911179A>T | CA399656477 | G6PC1 | c.827A>T (p.Asn276Ile) c.*219A>T (n.*219A>T) | |
17 | g.42911180C>A | CA399656481 | G6PC1 | c.828C>A (p.Asn276Lys) c.*220C>A (n.*220C>A) | |
17 | g.42911180C>G | CA399656478 | G6PC1 | c.828C>G (p.Asn276Lys) c.*220C>G (n.*220C>G) | |
17 | g.42911180C>T | CA500229553 | G6PC1 | c.828C>T (p.Asn276=) c.*220C>T (n.*220C>T) | |
17 | g.42911181T>A | CA399656482 | G6PC1 | c.829T>A (p.Ser277Thr) c.*221T>A (n.*221T>A) | |
17 | g.42911181T>C | CA399656485 | G6PC1 | c.829T>C (p.Ser277Pro) c.*221T>C (n.*221T>C) | |
17 | g.42911181T>G | CA399656487 | G6PC1 | c.829T>G (p.Ser277Ala) c.*221T>G (n.*221T>G) | |
17 | g.42911182C>A | CA8587661 | G6PC1 | c.830C>A (p.Ser277Tyr) c.*222C>A (n.*222C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911182C= | CA2260697429 | G6PC1 | c.830C= (p.Ser277=) c.*222C= (n.*222C=) | |
17 | g.42911182C>G | CA399656490 | G6PC1 | c.830C>G (p.Ser277Cys) c.*222C>G (n.*222C>G) | |
17 | g.42911182C>T | CA8587662 | G6PC1 | c.830C>T (p.Ser277Phe) c.*222C>T (n.*222C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911183C>A | CA500229555 | G6PC1 | c.831C>A (p.Ser277=) c.*223C>A (n.*223C>A) | |
17 | g.42911183C= | CA2260697430 | G6PC1 | c.831C= (p.Ser277=) c.*223C= (n.*223C=) | |
17 | g.42911183C>G | CA500229557 | G6PC1 | c.831C>G (p.Ser277=) c.*223C>G (n.*223C>G) | |
17 | g.42911183C>T | CA500229559 | G6PC1 | c.831C>T (p.Ser277=) c.*223C>T (n.*223C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911184A>C | CA399656499 | G6PC1 | c.832A>C (p.Ser278Arg) c.*224A>C (n.*224A>C) | |
17 | g.42911184A>G | CA399656495 | G6PC1 | c.832A>G (p.Ser278Gly) c.*224A>G (n.*224A>G) | |
17 | g.42911184A>T | CA399656498 | G6PC1 | c.832A>T (p.Ser278Cys) c.*224A>T (n.*224A>T) | |
17 | g.42911185G>A | CA399656501 | G6PC1 | c.833G>A (p.Ser278Asn) c.*225G>A (n.*225G>A) | |
17 | g.42911185G>C | CA399656503 | G6PC1 | c.833G>C (p.Ser278Thr) c.*225G>C (n.*225G>C) | |
17 | g.42911185G= | CA2260697431 | G6PC1 | c.833G= (p.Ser278=) c.*225G= (n.*225G=) | |
17 | g.42911185G>T | CA399656506 | G6PC1 | c.833G>T (p.Ser278Ile) c.*225G>T (n.*225G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911186C>A | CA399656508 | G6PC1 | c.834C>A (p.Ser278Arg) c.*226C>A (n.*226C>A) | |
17 | g.42911186C>G | CA399656510 | G6PC1 | c.834C>G (p.Ser278Arg) c.*226C>G (n.*226C>G) | |
17 | g.42911186C>T | CA500229560 | G6PC1 | c.834C>T (p.Ser278=) c.*226C>T (n.*226C>T) | gnomAD v4 |
17 | g.42911187A>C | CA399656518 | G6PC1 | c.835A>C (p.Met279Leu) c.*227A>C (n.*227A>C) | |
17 | g.42911187A>G | CA399656516 | G6PC1 | c.835A>G (p.Met279Val) c.*227A>G (n.*227A>G) | COSMIC |
17 | g.42911187A>T | CA399656514 | G6PC1 | c.835A>T (p.Met279Leu) c.*227A>T (n.*227A>T) | |
17 | g.42911188T>A | CA399656520 | G6PC1 | c.836T>A (p.Met279Lys) c.*228T>A (n.*228T>A) | |
17 | g.42911188T>C | CA8587663 | G6PC1 | c.836T>C (p.Met279Thr) c.*228T>C (n.*228T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911188T>G | CA399656523 | G6PC1 | c.836T>G (p.Met279Arg) c.*228T>G (n.*228T>G) | |
17 | g.42911188T= | CA2260697432 | G6PC1 | c.836T= (p.Met279=) c.*228T= (n.*228T=) | |
17 | g.42911189G>A | CA399656525 | G6PC1 | c.837G>A (p.Met279Ile) c.*229G>A (n.*229G>A) | |
17 | g.42911189G>C | CA399656528 | G6PC1 | c.837G>C (p.Met279Ile) c.*229G>C (n.*229G>C) | |
17 | g.42911189G>T | CA399656529 | G6PC1 | c.837G>T (p.Met279Ile) c.*229G>T (n.*229G>T) | |
17 | g.42911190T>A | CA399656531 | G6PC1 | c.838T>A (p.Tyr280Asn) c.*230T>A (n.*230T>A) | gnomAD v4 |
17 | g.42911190T>C | CA399656535 | G6PC1 | c.838T>C (p.Tyr280His) c.*230T>C (n.*230T>C) | |
17 | g.42911190T>G | CA399656533 | G6PC1 | c.838T>G (p.Tyr280Asp) c.*230T>G (n.*230T>G) | dbSNP |
17 | g.42911190T= | CA2260697433 | G6PC1 | c.838T= (p.Tyr280=) c.*230T= (n.*230T=) | |
17 | g.42911191A>C | CA399656538 | G6PC1 | c.839A>C (p.Tyr280Ser) c.*231A>C (n.*231A>C) | |
17 | g.42911191A>G | CA399656540 | G6PC1 | c.839A>G (p.Tyr280Cys) c.*231A>G (n.*231A>G) | |
17 | g.42911191A>T | CA399656542 | G6PC1 | c.839A>T (p.Tyr280Phe) c.*231A>T (n.*231A>T) | |
17 | g.42911192C>A | CA399656545 | G6PC1 | c.840C>A (p.Tyr280Ter) c.*232C>A (n.*232C>A) | gnomAD v4 |
17 | g.42911192C>G | CA399656547 | G6PC1 | c.840C>G (p.Tyr280Ter) c.*232C>G (n.*232C>G) | |
17 | g.42911192C>T | CA500229568 | G6PC1 | c.840C>T (p.Tyr280=) c.*232C>T (n.*232C>T) | |
17 | g.42911193A= | CA2260697434 | G6PC1 | c.841A= (p.Arg281=) c.*233A= (n.*233A=) | |
17 | g.42911193A>C | CA500229570 | G6PC1 | c.841A>C (p.Arg281=) c.*233A>C (n.*233A>C) | |
17 | g.42911193A>G | CA399656550 | G6PC1 | c.841A>G (p.Arg281Gly) c.*233A>G (n.*233A>G) | dbSNP gnomAD v4 |
17 | g.42911193A>T | CA399656552 | G6PC1 | c.841A>T (p.Arg281Trp) c.*233A>T (n.*233A>T) | gnomAD v4 |
17 | g.42911194G>A | CA399656559 | G6PC1 | c.842G>A (p.Arg281Lys) c.*234G>A (n.*234G>A) | |
17 | g.42911194G>C | CA399656554 | G6PC1 | c.842G>C (p.Arg281Thr) c.*234G>C (n.*234G>C) | |
17 | g.42911194G>T | CA399656557 | G6PC1 | c.842G>T (p.Arg281Met) c.*234G>T (n.*234G>T) | |
17 | g.42911195G>A | CA500229573 | G6PC1 | c.843G>A (p.Arg281=) c.*235G>A (n.*235G>A) | gnomAD v4 COSMIC |
17 | g.42911195G>C | CA399656562 | G6PC1 | c.843G>C (p.Arg281Ser) c.*235G>C (n.*235G>C) | ClinVar dbSNP gnomAD v4 |
17 | g.42911195G= | CA2260697435 | G6PC1 | c.843G= (p.Arg281=) c.*235G= (n.*235G=) | |
17 | g.42911195G>T | CA399656563 | G6PC1 | c.843G>T (p.Arg281Ser) c.*235G>T (n.*235G>T) | |
17 | g.42911196G>A | CA399656566 | G6PC1 | c.844G>A (p.Glu282Lys) c.*236G>A (n.*236G>A) | dbSNP gnomAD v4 COSMIC |
17 | g.42911196G>C | CA399656568 | G6PC1 | c.844G>C (p.Glu282Gln) c.*236G>C (n.*236G>C) | |
17 | g.42911196G= | CA2260697436 | G6PC1 | c.844G= (p.Glu282=) c.*236G= (n.*236G=) | |
17 | g.42911196G>T | CA399656569 | G6PC1 | c.844G>T (p.Glu282Ter) c.*236G>T (n.*236G>T) | |
17 | g.42911197A>C | CA399656571 | G6PC1 | c.845A>C (p.Glu282Ala) c.*237A>C (n.*237A>C) | |
17 | g.42911197A>G | CA399656575 | G6PC1 | c.845A>G (p.Glu282Gly) c.*237A>G (n.*237A>G) | |
17 | g.42911197A>T | CA399656572 | G6PC1 | c.845A>T (p.Glu282Val) c.*237A>T (n.*237A>T) | |
17 | g.42911198G>A | CA8587665 | G6PC1 | c.846G>A (p.Glu282=) c.*238G>A (n.*238G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911198G>C | CA399656579 | G6PC1 | c.846G>C (p.Glu282Asp) c.*238G>C (n.*238G>C) | COSMIC |
17 | g.42911198G= | CA2260697437 | G6PC1 | c.846G= (p.Glu282=) c.*238G= (n.*238G=) | |
17 | g.42911198G>T | CA8587664 | G6PC1 | c.846G>T (p.Glu282Asp) c.*238G>T (n.*238G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911199A>C | CA399656583 | G6PC1 | c.847A>C (p.Ser283Arg) c.*239A>C (n.*239A>C) | |
17 | g.42911199A>G | CA399656585 | G6PC1 | c.847A>G (p.Ser283Gly) c.*239A>G (n.*239A>G) | |
17 | g.42911199A>T | CA399656587 | G6PC1 | c.847A>T (p.Ser283Cys) c.*239A>T (n.*239A>T) | |
17 | g.42911200G>A | CA399656589 | G6PC1 | c.848G>A (p.Ser283Asn) c.*240G>A (n.*240G>A) | gnomAD v4 COSMIC |
17 | g.42911200G>C | CA399656591 | G6PC1 | c.848G>C (p.Ser283Thr) c.*240G>C (n.*240G>C) | |
17 | g.42911200G>T | CA399656592 | G6PC1 | c.848G>T (p.Ser283Ile) c.*240G>T (n.*240G>T) | |
17 | g.42911201C>A | CA399656595 | G6PC1 | c.849C>A (p.Ser283Arg) c.*241C>A (n.*241C>A) | |
17 | g.42911201C= | CA2260697438 | G6PC1 | c.849C= (p.Ser283=) c.*241C= (n.*241C=) | |
17 | g.42911201C>G | CA399656598 | G6PC1 | c.849C>G (p.Ser283Arg) c.*241C>G (n.*241C>G) | |
17 | g.42911201C>T | CA290790023 | G6PC1 | c.849C>T (p.Ser283=) c.*241C>T (n.*241C>T) | dbSNP |
17 | g.42911202T>A | CA399656600 | G6PC1 | c.850T>A (p.Cys284Ser) c.*242T>A (n.*242T>A) | |
17 | g.42911202T>C | CA399656604 | G6PC1 | c.850T>C (p.Cys284Arg) c.*242T>C (n.*242T>C) | gnomAD v4 |
17 | g.42911202T>G | CA399656601 | G6PC1 | c.850T>G (p.Cys284Gly) c.*242T>G (n.*242T>G) | |
17 | g.42911203G>A | CA399656606 | G6PC1 | c.851G>A (p.Cys284Tyr) c.*243G>A (n.*243G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911203G>C | CA399656610 | G6PC1 | c.851G>C (p.Cys284Ser) c.*243G>C (n.*243G>C) | |
17 | g.42911203G= | CA2260697439 | G6PC1 | c.851G= (p.Cys284=) c.*243G= (n.*243G=) | |
17 | g.42911203G>T | CA399656608 | G6PC1 | c.851G>T (p.Cys284Phe) c.*243G>T (n.*243G>T) | |
17 | g.42911204C>A | CA399656613 | G6PC1 | c.852C>A (p.Cys284Ter) c.*244C>A (n.*244C>A) | |
17 | g.42911204C>G | CA399656614 | G6PC1 | c.852C>G (p.Cys284Trp) c.*244C>G (n.*244C>G) | |
17 | g.42911204C>T | CA500229709 | G6PC1 | c.852C>T (p.Cys284=) c.*244C>T (n.*244C>T) | |
17 | g.42911205A>C | CA399656617 | G6PC1 | c.853A>C (p.Lys285Gln) c.*245A>C (n.*245A>C) | |
17 | g.42911205A>G | CA399656619 | G6PC1 | c.853A>G (p.Lys285Glu) c.*245A>G (n.*245A>G) | gnomAD v4 COSMIC |
17 | g.42911205A>T | CA399656622 | G6PC1 | c.853A>T (p.Lys285Ter) c.*245A>T (n.*245A>T) | |
17 | g.42911205_42911206dup | CA2695226084 | G6PC1 | c.853_854dup (p.Gly286ArgfsTer16) c.*245_*246dup (n.*245_*246dup) | |
17 | g.42911205_42911206insT | CA2580093790 | G6PC1 | c.853_854insT (p.Lys285IlefsTer26) c.*245_*246insT (n.*245_*246insT) | ClinVar |
17 | g.42911206A>C | CA399656624 | G6PC1 | c.854A>C (p.Lys285Thr) c.*246A>C (n.*246A>C) | |
17 | g.42911206A>G | CA399656627 | G6PC1 | c.854A>G (p.Lys285Arg) c.*246A>G (n.*246A>G) | gnomAD v4 |
17 | g.42911206A>T | CA399656628 | G6PC1 | c.854A>T (p.Lys285Met) c.*246A>T (n.*246A>T) | |
17 | g.42911206_42911207delinsAG | CA2260697440 | G6PC1 | c.854_855delinsAG (p.Lys285=) c.*246_*247delinsAG (n.*246_*247delinsAG) | |
17 | g.42911207G>A | CA500229715 | G6PC1 | c.855G>A (p.Lys285=) c.*247G>A (n.*247G>A) | ClinVar dbSNP |
17 | g.42911207G>C | CA399656630 | G6PC1 | c.855G>C (p.Lys285Asn) c.*247G>C (n.*247G>C) | |
17 | g.42911207G= | CA2260697441 | G6PC1 | c.855G= (p.Lys285=) c.*247G= (n.*247G=) | |
17 | g.42911207G>T | CA399656634 | G6PC1 | c.855G>T (p.Lys285Asn) c.*247G>T (n.*247G>T) | |
17 | g.42911210del | CA16041845 | G6PC1 | c.858del (p.Lys287AsnfsTer14) c.*250del (n.*250del) | ClinVar dbSNP |
17 | g.42911208G>A | CA290790028 | G6PC1 | c.856G>A (p.Gly286Arg) c.*248G>A (n.*248G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.42911208G>C | CA399656638 | G6PC1 | c.856G>C (p.Gly286Arg) c.*248G>C (n.*248G>C) | gnomAD v4 |
17 | g.42911208G= | CA2260697442 | G6PC1 | c.856G= (p.Gly286=) c.*248G= (n.*248G=) | |
17 | g.42911208G>T | CA399656637 | G6PC1 | c.856G>T (p.Gly286Trp) c.*248G>T (n.*248G>T) | |
17 | g.42911209G>A | CA399656640 | G6PC1 | c.857G>A (p.Gly286Glu) c.*249G>A (n.*249G>A) | gnomAD v4 COSMIC |
17 | g.42911209G>C | CA399656641 | G6PC1 | c.857G>C (p.Gly286Ala) c.*249G>C (n.*249G>C) | |
17 | g.42911209G>T | CA399656642 | G6PC1 | c.857G>T (p.Gly286Val) c.*249G>T (n.*249G>T) | |
17 | g.42911210G>A | CA500229725 | G6PC1 | c.858G>A (p.Gly286=) c.*250G>A (n.*250G>A) | |
17 | g.42911210G>C | CA500229726 | G6PC1 | c.858G>C (p.Gly286=) c.*250G>C (n.*250G>C) | |
17 | g.42911210G>T | CA500229727 | G6PC1 | c.858G>T (p.Gly286=) c.*250G>T (n.*250G>T) | |
17 | g.42911211A>C | CA399656643 | G6PC1 | c.859A>C (p.Lys287Gln) c.*251A>C (n.*251A>C) | COSMIC |
17 | g.42911211A>G | CA399656644 | G6PC1 | c.859A>G (p.Lys287Glu) c.*251A>G (n.*251A>G) | |
17 | g.42911211A>T | CA399656646 | G6PC1 | c.859A>T (p.Lys287Ter) c.*251A>T (n.*251A>T) | |
17 | g.42911212A>C | CA399656648 | G6PC1 | c.860A>C (p.Lys287Thr) c.*252A>C (n.*252A>C) | |
17 | g.42911212A>G | CA399656649 | G6PC1 | c.860A>G (p.Lys287Arg) c.*252A>G (n.*252A>G) | |
17 | g.42911212A>T | CA399656650 | G6PC1 | c.860A>T (p.Lys287Ile) c.*252A>T (n.*252A>T) | |
17 | g.42911213A>C | CA399656651 | G6PC1 | c.861A>C (p.Lys287Asn) c.*253A>C (n.*253A>C) | |
17 | g.42911213A>G | CA500229731 | G6PC1 | c.861A>G (p.Lys287=) c.*253A>G (n.*253A>G) | |
17 | g.42911213A>T | CA399656652 | G6PC1 | c.861A>T (p.Lys287Asn) c.*253A>T (n.*253A>T) | |
17 | g.42911214C>A | CA399656654 | G6PC1 | c.862C>A (p.Leu288Ile) c.*254C>A (n.*254C>A) | |
17 | g.42911214C= | CA2260697443 | G6PC1 | c.862C= (p.Leu288=) c.*254C= (n.*254C=) | |
17 | g.42911214C>G | CA399656656 | G6PC1 | c.862C>G (p.Leu288Val) c.*254C>G (n.*254C>G) | |
17 | g.42911214C>T | CA290790031 | G6PC1 | c.862C>T (p.Leu288Phe) c.*254C>T (n.*254C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911215_42911216del | CA2638041526 | G6PC1 | c.863_864del (p.Leu288GlnfsTer22) c.*255_*256del (n.*255_*256del) | gnomAD v4 |
17 | g.42911215T>A | CA399656658 | G6PC1 | c.863T>A (p.Leu288His) c.*255T>A (n.*255T>A) | dbSNP |
17 | g.42911215T>C | CA399656659 | G6PC1 | c.863T>C (p.Leu288Pro) c.*255T>C (n.*255T>C) | |
17 | g.42911215T>G | CA399656660 | G6PC1 | c.863T>G (p.Leu288Arg) c.*255T>G (n.*255T>G) | |
17 | g.42911216C>A | CA500229737 | G6PC1 | c.864C>A (p.Leu288=) c.*256C>A (n.*256C>A) | |
17 | g.42911216C>G | CA500229738 | G6PC1 | c.864C>G (p.Leu288=) c.*256C>G (n.*256C>G) | |
17 | g.42911216C>T | CA500229739 | G6PC1 | c.864C>T (p.Leu288=) c.*256C>T (n.*256C>T) | |
17 | g.42911217A= | CA2260697444 | G6PC1 | c.865A= (p.Ser289=) c.*257A= (n.*257A=) | |
17 | g.42911217A>C | CA399656663 | G6PC1 | c.865A>C (p.Ser289Arg) c.*257A>C (n.*257A>C) | |
17 | g.42911217A>G | CA290790032 | G6PC1 | c.865A>G (p.Ser289Gly) c.*257A>G (n.*257A>G) | dbSNP |
17 | g.42911217A>T | CA399656665 | G6PC1 | c.865A>T (p.Ser289Cys) c.*257A>T (n.*257A>T) | |
17 | g.42911218G>A | CA399656670 | G6PC1 | c.866G>A (p.Ser289Asn) c.*258G>A (n.*258G>A) | |
17 | g.42911218G>C | CA399656667 | G6PC1 | c.866G>C (p.Ser289Thr) c.*258G>C (n.*258G>C) | |
17 | g.42911218G= | CA2260697445 | G6PC1 | c.866G= (p.Ser289=) c.*258G= (n.*258G=) | |
17 | g.42911218G>T | CA399656669 | G6PC1 | c.866G>T (p.Ser289Ile) c.*258G>T (n.*258G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911219C>A | CA399656672 | G6PC1 | c.867C>A (p.Ser289Arg) c.*259C>A (n.*259C>A) | |
17 | g.42911219C>G | CA399656674 | G6PC1 | c.867C>G (p.Ser289Arg) c.*259C>G (n.*259C>G) | |
17 | g.42911219C>T | CA500229743 | G6PC1 | c.867C>T (p.Ser289=) c.*259C>T (n.*259C>T) | |
17 | g.42911220A>C | CA399656676 | G6PC1 | c.868A>C (p.Lys290Gln) c.*260A>C (n.*260A>C) | |
17 | g.42911220A>G | CA399656677 | G6PC1 | c.868A>G (p.Lys290Glu) c.*260A>G (n.*260A>G) | |
17 | g.42911220A>T | CA399656678 | G6PC1 | c.868A>T (p.Lys290Ter) c.*260A>T (n.*260A>T) | |
17 | g.42911221A>C | CA399656680 | G6PC1 | c.869A>C (p.Lys290Thr) c.*261A>C (n.*261A>C) | |
17 | g.42911221A>G | CA399656684 | G6PC1 | c.869A>G (p.Lys290Arg) c.*261A>G (n.*261A>G) | |
17 | g.42911221A>T | CA399656682 | G6PC1 | c.869A>T (p.Lys290Met) c.*261A>T (n.*261A>T) | gnomAD v2 gnomAD v4 |
17 | g.42911222del | CA2576281044 | G6PC1 | c.870del (p.Lys290AsnfsTer11) c.*262del (n.*262del) | |
17 | g.42911222G>A | CA8587666 | G6PC1 | c.870G>A (p.Lys290=) c.*262G>A (n.*262G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911222G>C | CA399656687 | G6PC1 | c.870G>C (p.Lys290Asn) c.*262G>C (n.*262G>C) | |
17 | g.42911222G= | CA2260697446 | G6PC1 | c.870G= (p.Lys290=) c.*262G= (n.*262G=) | |
17 | g.42911222G>T | CA399656688 | G6PC1 | c.870G>T (p.Lys290Asn) c.*262G>T (n.*262G>T) | |
17 | g.42911223T>A | CA399656689 | G6PC1 | c.871T>A (p.Trp291Arg) c.*263T>A (n.*263T>A) | |
17 | g.42911223T>C | CA399656690 | G6PC1 | c.871T>C (p.Trp291Arg) c.*263T>C (n.*263T>C) | |
17 | g.42911223T>G | CA399656692 | G6PC1 | c.871T>G (p.Trp291Gly) c.*263T>G (n.*263T>G) | |
17 | g.42911224G>A | CA399656694 | G6PC1 | c.872G>A (p.Trp291Ter) c.*264G>A (n.*264G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911224G>C | CA399656696 | G6PC1 | c.872G>C (p.Trp291Ser) c.*264G>C (n.*264G>C) | |
17 | g.42911224G= | CA2260697447 | G6PC1 | c.872G= (p.Trp291=) c.*264G= (n.*264G=) | |
17 | g.42911224G>T | CA399656697 | G6PC1 | c.872G>T (p.Trp291Leu) c.*264G>T (n.*264G>T) | dbSNP |
17 | g.42911225G>A | CA399656699 | G6PC1 | c.873G>A (p.Trp291Ter) c.*265G>A (n.*265G>A) | |
17 | g.42911225G>C | CA399656700 | G6PC1 | c.873G>C (p.Trp291Cys) c.*265G>C (n.*265G>C) | |
17 | g.42911225G>T | CA399656701 | G6PC1 | c.873G>T (p.Trp291Cys) c.*265G>T (n.*265G>T) | |
17 | g.42911226C>A | CA399656703 | G6PC1 | c.874C>A (p.Leu292Ile) c.*266C>A (n.*266C>A) | |
17 | g.42911226C>G | CA399656706 | G6PC1 | c.874C>G (p.Leu292Val) c.*266C>G (n.*266C>G) | |
17 | g.42911226C>T | CA399656705 | G6PC1 | c.874C>T (p.Leu292Phe) c.*266C>T (n.*266C>T) | |
17 | g.42911227T>A | CA399656707 | G6PC1 | c.875T>A (p.Leu292His) c.*267T>A (n.*267T>A) | |
17 | g.42911227T>C | CA399656713 | G6PC1 | c.875T>C (p.Leu292Pro) c.*267T>C (n.*267T>C) | |
17 | g.42911227T>G | CA399656711 | G6PC1 | c.875T>G (p.Leu292Arg) c.*267T>G (n.*267T>G) | |
17 | g.42911228C>A | CA500229753 | G6PC1 | c.876C>A (p.Leu292=) c.*268C>A (n.*268C>A) | |
17 | g.42911228C>G | CA500229754 | G6PC1 | c.876C>G (p.Leu292=) c.*268C>G (n.*268C>G) | |
17 | g.42911228C>T | CA500229755 | G6PC1 | c.876C>T (p.Leu292=) c.*268C>T (n.*268C>T) | |
17 | g.42911229C>A | CA399656716 | G6PC1 | c.877C>A (p.Pro293Thr) c.*269C>A (n.*269C>A) | |
17 | g.42911229C= | CA2260697448 | G6PC1 | c.877C= (p.Pro293=) c.*269C= (n.*269C=) | |
17 | g.42911229C>G | CA290790055 | G6PC1 | c.877C>G (p.Pro293Ala) c.*269C>G (n.*269C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911229C>T | CA399656720 | G6PC1 | c.877C>T (p.Pro293Ser) c.*269C>T (n.*269C>T) | COSMIC |
17 | g.42911230C>A | CA399656723 | G6PC1 | c.878C>A (p.Pro293Gln) c.*270C>A (n.*270C>A) | |
17 | g.42911230C= | CA2260697449 | G6PC1 | c.878C= (p.Pro293=) c.*270C= (n.*270C=) | |
17 | g.42911230C>G | CA399656726 | G6PC1 | c.878C>G (p.Pro293Arg) c.*270C>G (n.*270C>G) | |
17 | g.42911230C>T | CA8587667 | G6PC1 | c.878C>T (p.Pro293Leu) c.*270C>T (n.*270C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.42911231A= | CA2260697450 | G6PC1 | c.879A= (p.Pro293=) c.*271A= (n.*271A=) | |
17 | g.42911231A>C | CA500229760 | G6PC1 | c.879A>C (p.Pro293=) c.*271A>C (n.*271A>C) | |
17 | g.42911231A>G | CA8587668 | G6PC1 | c.879A>G (p.Pro293=) c.*271A>G (n.*271A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911231A>T | CA500229762 | G6PC1 | c.879A>T (p.Pro293=) c.*271A>T (n.*271A>T) | |
17 | g.42911232T>A | CA399656733 | G6PC1 | c.880T>A (p.Phe294Ile) c.*272T>A (n.*272T>A) | |
17 | g.42911232T>C | CA399656736 | G6PC1 | c.880T>C (p.Phe294Leu) c.*272T>C (n.*272T>C) | |
17 | g.42911232T>G | CA399656739 | G6PC1 | c.880T>G (p.Phe294Val) c.*272T>G (n.*272T>G) | |
17 | g.42911233T>A | CA399656744 | G6PC1 | c.881T>A (p.Phe294Tyr) c.*273T>A (n.*273T>A) | |
17 | g.42911233T>C | CA399656749 | G6PC1 | c.881T>C (p.Phe294Ser) c.*273T>C (n.*273T>C) | |
17 | g.42911233T>G | CA399656751 | G6PC1 | c.881T>G (p.Phe294Cys) c.*273T>G (n.*273T>G) | gnomAD v4 |
17 | g.42911234C>A | CA321728 | G6PC1 | c.882C>A (p.Phe294Leu) c.*274C>A (n.*274C>A) | ClinVar dbSNP |
17 | g.42911234C= | CA2260697451 | G6PC1 | c.882C= (p.Phe294=) c.*274C= (n.*274C=) | |
17 | g.42911234C>G | CA399656755 | G6PC1 | c.882C>G (p.Phe294Leu) c.*274C>G (n.*274C>G) | |
17 | g.42911234C>T | CA500229764 | G6PC1 | c.882C>T (p.Phe294=) c.*274C>T (n.*274C>T) | |
17 | g.42911235C>A | CA399656757 | G6PC1 | c.883C>A (p.Arg295Ser) c.*275C>A (n.*275C>A) | |
17 | g.42911235C= | CA2260697452 | G6PC1 | c.883C= (p.Arg295=) c.*275C= (n.*275C=) | |
17 | g.42911235C>G | CA399656763 | G6PC1 | c.883C>G (p.Arg295Gly) c.*275C>G (n.*275C>G) | |
17 | g.42911235C>T | CA256178 | G6PC1 | c.883C>T (p.Arg295Cys) c.*275C>T (n.*275C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42911236G>A | CA8587669 | G6PC1 | c.884G>A (p.Arg295His) c.*276G>A (n.*276G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911236G>C | CA399656770 | G6PC1 | c.884G>C (p.Arg295Pro) c.*276G>C (n.*276G>C) | |
17 | g.42911236G= | CA2260697453 | G6PC1 | c.884G= (p.Arg295=) c.*276G= (n.*276G=) | |
17 | g.42911236G>T | CA399656776 | G6PC1 | c.884G>T (p.Arg295Leu) c.*276G>T (n.*276G>T) | |
17 | g.42911237C>A | CA500229767 | G6PC1 | c.885C>A (p.Arg295=) c.*277C>A (n.*277C>A) | |
17 | g.42911237C>G | CA500229768 | G6PC1 | c.885C>G (p.Arg295=) c.*277C>G (n.*277C>G) | |
17 | g.42911237C>T | CA500229770 | G6PC1 | c.885C>T (p.Arg295=) c.*277C>T (n.*277C>T) | |
17 | g.42911238C>A | CA399656780 | G6PC1 | c.886C>A (p.Leu296Ile) c.*278C>A (n.*278C>A) | |
17 | g.42911238C= | CA2260697454 | G6PC1 | c.886C= (p.Leu296=) c.*278C= (n.*278C=) | |
17 | g.42911238C>G | CA399656785 | G6PC1 | c.886C>G (p.Leu296Val) c.*278C>G (n.*278C>G) | |
17 | g.42911238C>T | CA399656788 | G6PC1 | c.886C>T (p.Leu296Phe) c.*278C>T (n.*278C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911239T>A | CA399656792 | G6PC1 | c.887T>A (p.Leu296His) c.*279T>A (n.*279T>A) | |
17 | g.42911239T>C | CA399656797 | G6PC1 | c.887T>C (p.Leu296Pro) c.*279T>C (n.*279T>C) | |
17 | g.42911239T>G | CA399656798 | G6PC1 | c.887T>G (p.Leu296Arg) c.*279T>G (n.*279T>G) | |
17 | g.42911240C>A | CA500229776 | G6PC1 | c.888C>A (p.Leu296=) c.*280C>A (n.*280C>A) | |
17 | g.42911240C= | CA2260697455 | G6PC1 | c.888C= (p.Leu296=) c.*280C= (n.*280C=) | |
17 | g.42911240C>G | CA500229777 | G6PC1 | c.888C>G (p.Leu296=) c.*280C>G (n.*280C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911240C>T | CA500229780 | G6PC1 | c.888C>T (p.Leu296=) c.*280C>T (n.*280C>T) | |
17 | g.42911241A>C | CA399656805 | G6PC1 | c.889A>C (p.Ser297Arg) c.*281A>C (n.*281A>C) | |
17 | g.42911241A>G | CA399656804 | G6PC1 | c.889A>G (p.Ser297Gly) c.*281A>G (n.*281A>G) | |
17 | g.42911241A>T | CA399656800 | G6PC1 | c.889A>T (p.Ser297Cys) c.*281A>T (n.*281A>T) | |
17 | g.42911242G>A | CA399656806 | G6PC1 | c.890G>A (p.Ser297Asn) c.*282G>A (n.*282G>A) | |
17 | g.42911242G>C | CA399656807 | G6PC1 | c.890G>C (p.Ser297Thr) c.*282G>C (n.*282G>C) | |
17 | g.42911242G>T | CA399656817 | G6PC1 | c.890G>T (p.Ser297Ile) c.*282G>T (n.*282G>T) | |
17 | g.42911243C>A | CA399656824 | G6PC1 | c.891C>A (p.Ser297Arg) c.*283C>A (n.*283C>A) | |
17 | g.42911243C>G | CA399656825 | G6PC1 | c.891C>G (p.Ser297Arg) c.*283C>G (n.*283C>G) | |
17 | g.42911243C>T | CA500229784 | G6PC1 | c.891C>T (p.Ser297=) c.*283C>T (n.*283C>T) | ClinVar gnomAD v4 |
17 | g.42911244T>A | CA399656837 | G6PC1 | c.892T>A (p.Ser298Thr) c.*284T>A (n.*284T>A) | |
17 | g.42911244T>C | CA8587670 | G6PC1 | c.892T>C (p.Ser298Pro) c.*284T>C (n.*284T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911244T>G | CA399656839 | G6PC1 | c.892T>G (p.Ser298Ala) c.*284T>G (n.*284T>G) | |
17 | g.42911244T= | CA2260697456 | G6PC1 | c.892T= (p.Ser298=) c.*284T= (n.*284T=) | |
17 | g.42911245C>A | CA399656841 | G6PC1 | c.893C>A (p.Ser298Tyr) c.*285C>A (n.*285C>A) | |
17 | g.42911245C>G | CA399656844 | G6PC1 | c.893C>G (p.Ser298Cys) c.*285C>G (n.*285C>G) | |
17 | g.42911245C>T | CA399656845 | G6PC1 | c.893C>T (p.Ser298Phe) c.*285C>T (n.*285C>T) |