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 |
|---|---|---|---|---|---|
| 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.42911018A= | CA2260697360 | G6PC1 | c.666A= (p.Gly222=) c.*58A= (n.*58A=) | |
| 17 | g.42911018A>C | CA500104715 | G6PC1 | c.666A>C (p.Gly222=) c.*58A>C (n.*58A>C) | |
| 17 | g.42911018A>G | CA500104717 | G6PC1 | c.666A>G (p.Gly222=) c.*58A>G (n.*58A>G) | dbSNP |
| 17 | g.42911018A>T | CA500104718 | G6PC1 | c.666A>T (p.Gly222=) c.*58A>T (n.*58A>T) | COSMIC |
| 17 | g.42911019T>A | CA399655754 | G6PC1 | c.667T>A (p.Phe223Ile) c.*59T>A (n.*59T>A) | |
| 17 | g.42911019T>C | CA399655752 | G6PC1 | c.667T>C (p.Phe223Leu) c.*59T>C (n.*59T>C) | |
| 17 | g.42911019T>G | CA399655751 | G6PC1 | c.667T>G (p.Phe223Val) c.*59T>G (n.*59T>G) | |
| 17 | g.42911020T>A | CA399655755 | G6PC1 | c.668T>A (p.Phe223Tyr) c.*60T>A (n.*60T>A) | |
| 17 | g.42911020T>C | CA399655757 | G6PC1 | c.668T>C (p.Phe223Ser) c.*60T>C (n.*60T>C) | |
| 17 | g.42911020T>G | CA399655759 | G6PC1 | c.668T>G (p.Phe223Cys) c.*60T>G (n.*60T>G) | |
| 17 | g.42911021T>A | CA399655760 | G6PC1 | c.669T>A (p.Phe223Leu) c.*61T>A (n.*61T>A) | |
| 17 | g.42911021T>C | CA500104728 | G6PC1 | c.669T>C (p.Phe223=) c.*61T>C (n.*61T>C) | |
| 17 | g.42911021T>G | CA399655761 | G6PC1 | c.669T>G (p.Phe223Leu) c.*61T>G (n.*61T>G) | |
| 17 | g.42911022T>A | CA399655763 | G6PC1 | c.670T>A (p.Tyr224Asn) c.*62T>A (n.*62T>A) | |
| 17 | g.42911022T>C | CA399655765 | G6PC1 | c.670T>C (p.Tyr224His) c.*62T>C (n.*62T>C) | |
| 17 | g.42911022T>G | CA399655766 | G6PC1 | c.670T>G (p.Tyr224Asp) c.*62T>G (n.*62T>G) | |
| 17 | g.42911023A>C | CA399655768 | G6PC1 | c.671A>C (p.Tyr224Ser) c.*63A>C (n.*63A>C) | |
| 17 | g.42911023A>G | CA399655769 | G6PC1 | c.671A>G (p.Tyr224Cys) c.*63A>G (n.*63A>G) | |
| 17 | g.42911023A>T | CA399655771 | G6PC1 | c.671A>T (p.Tyr224Phe) c.*63A>T (n.*63A>T) | |
| 17 | g.42911023_42911027del | CA645586429 | G6PC1 | c.671_675del (p.Tyr224SerfsTer29) c.*63_*67del (n.*63_*67del) | COSMIC |
| 17 | g.42911024T>A | CA399655773 | G6PC1 | c.672T>A (p.Tyr224Ter) c.*64T>A (n.*64T>A) | |
| 17 | g.42911024T>C | CA500104737 | G6PC1 | c.672T>C (p.Tyr224=) c.*64T>C (n.*64T>C) | |
| 17 | g.42911024T>G | CA399655775 | G6PC1 | c.672T>G (p.Tyr224Ter) c.*64T>G (n.*64T>G) | |
| 17 | g.42911025C>A | CA399655777 | G6PC1 | c.673C>A (p.Leu225Met) c.*65C>A (n.*65C>A) | |
| 17 | g.42911025C>G | CA399655776 | G6PC1 | c.673C>G (p.Leu225Val) c.*65C>G (n.*65C>G) | |
| 17 | g.42911025C>T | CA500104741 | G6PC1 | c.673C>T (p.Leu225=) c.*65C>T (n.*65C>T) | ClinVar |
| 17 | g.42911026T>A | CA399655778 | G6PC1 | c.674T>A (p.Leu225Gln) c.*66T>A (n.*66T>A) | |
| 17 | g.42911026T>C | CA399655779 | G6PC1 | c.674T>C (p.Leu225Pro) c.*66T>C (n.*66T>C) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42911026T>G | CA399655780 | G6PC1 | c.674T>G (p.Leu225Arg) c.*66T>G (n.*66T>G) | |
| 17 | g.42911026T= | CA2260697361 | G6PC1 | c.674T= (p.Leu225=) c.*66T= (n.*66T=) | |
| 17 | g.42911027G>A | CA500104747 | G6PC1 | c.675G>A (p.Leu225=) c.*67G>A (n.*67G>A) | |
| 17 | g.42911027G>C | CA500104749 | G6PC1 | c.675G>C (p.Leu225=) c.*67G>C (n.*67G>C) | |
| 17 | g.42911027G>T | CA500104751 | G6PC1 | c.675G>T (p.Leu225=) c.*67G>T (n.*67G>T) | |
| 17 | g.42911028C>A | CA399655781 | G6PC1 | c.676C>A (p.Leu226Met) c.*68C>A (n.*68C>A) | |
| 17 | g.42911028C= | CA2260697362 | G6PC1 | c.676C= (p.Leu226=) c.*68C= (n.*68C=) | |
| 17 | g.42911028C>G | CA8587637 | G6PC1 | c.676C>G (p.Leu226Val) c.*68C>G (n.*68C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42911028C>T | CA500104754 | G6PC1 | c.676C>T (p.Leu226=) c.*68C>T (n.*68C>T) | dbSNP gnomAD v4 |
| 17 | g.42911029T>A | CA399655786 | G6PC1 | c.677T>A (p.Leu226Gln) c.*69T>A (n.*69T>A) | |
| 17 | g.42911029T>C | CA8587638 | G6PC1 | c.677T>C (p.Leu226Pro) c.*69T>C (n.*69T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42911029T>G | CA399655784 | G6PC1 | c.677T>G (p.Leu226Arg) c.*69T>G (n.*69T>G) | |
| 17 | g.42911029T= | CA2260697363 | G6PC1 | c.677T= (p.Leu226=) c.*69T= (n.*69T=) | |
| 17 | g.42911030G>A | CA500104760 | G6PC1 | c.678G>A (p.Leu226=) c.*70G>A (n.*70G>A) | |
| 17 | g.42911030G>C | CA500104762 | G6PC1 | c.678G>C (p.Leu226=) c.*70G>C (n.*70G>C) | ClinVar |
| 17 | g.42911030G>T | CA500104764 | G6PC1 | c.678G>T (p.Leu226=) c.*70G>T (n.*70G>T) | COSMIC |
| 17 | g.42911031C>A | CA399655788 | G6PC1 | c.679C>A (p.Leu227Ile) c.*71C>A (n.*71C>A) | |
| 17 | g.42911031C>G | CA399655790 | G6PC1 | c.679C>G (p.Leu227Val) c.*71C>G (n.*71C>G) | |
| 17 | g.42911031C>T | CA399655792 | G6PC1 | c.679C>T (p.Leu227Phe) c.*71C>T (n.*71C>T) | gnomAD v4 |
| 17 | g.42911032T>A | CA399655793 | G6PC1 | c.680T>A (p.Leu227His) c.*72T>A (n.*72T>A) | |
| 17 | g.42911032T>C | CA399655795 | G6PC1 | c.680T>C (p.Leu227Pro) c.*72T>C (n.*72T>C) | |
| 17 | g.42911032T>G | CA399655797 | G6PC1 | c.680T>G (p.Leu227Arg) c.*72T>G (n.*72T>G) | |
| 17 | g.42911033C>A | CA500104772 | G6PC1 | c.681C>A (p.Leu227=) c.*73C>A (n.*73C>A) | gnomAD v4 |
| 17 | g.42911033C>G | CA500104776 | G6PC1 | c.681C>G (p.Leu227=) c.*73C>G (n.*73C>G) | gnomAD v4 |
| 17 | g.42911033C>T | CA500104774 | G6PC1 | c.681C>T (p.Leu227=) c.*73C>T (n.*73C>T) | |
| 17 | g.42911034A>C | CA399655801 | G6PC1 | c.682A>C (p.Lys228Gln) c.*74A>C (n.*74A>C) | |
| 17 | g.42911034A>G | CA399655798 | G6PC1 | c.682A>G (p.Lys228Glu) c.*74A>G (n.*74A>G) | gnomAD v4 |
| 17 | g.42911034A>T | CA399655799 | G6PC1 | c.682A>T (p.Lys228Ter) c.*74A>T (n.*74A>T) | |
| 17 | g.42911035A>C | CA399655803 | G6PC1 | c.683A>C (p.Lys228Thr) c.*75A>C (n.*75A>C) | |
| 17 | g.42911035A>G | CA399655804 | G6PC1 | c.683A>G (p.Lys228Arg) c.*75A>G (n.*75A>G) | gnomAD v4 |
| 17 | g.42911035A>T | CA399655806 | G6PC1 | c.683A>T (p.Lys228Met) c.*75A>T (n.*75A>T) | |
| 17 | g.42911036G>A | CA500104785 | G6PC1 | c.684G>A (p.Lys228=) c.*76G>A (n.*76G>A) | |
| 17 | g.42911036G>C | CA399655808 | G6PC1 | c.684G>C (p.Lys228Asn) c.*76G>C (n.*76G>C) | |
| 17 | g.42911036G>T | CA399655810 | G6PC1 | c.684G>T (p.Lys228Asn) c.*76G>T (n.*76G>T) | |
| 17 | g.42911037G>A | CA8587639 | G6PC1 | c.685G>A (p.Gly229Arg) c.*77G>A (n.*77G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911037G>C | CA399655812 | G6PC1 | c.685G>C (p.Gly229Arg) c.*77G>C (n.*77G>C) | |
| 17 | g.42911037G= | CA2260697364 | G6PC1 | c.685G= (p.Gly229=) c.*77G= (n.*77G=) | |
| 17 | g.42911037G>T | CA399655814 | G6PC1 | c.685G>T (p.Gly229Ter) c.*77G>T (n.*77G>T) | |
| 17 | g.42911038G>A | CA399655816 | G6PC1 | c.686G>A (p.Gly229Glu) c.*78G>A (n.*78G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42911038G>C | CA399655818 | G6PC1 | c.686G>C (p.Gly229Ala) c.*78G>C (n.*78G>C) | |
| 17 | g.42911038G= | CA2260697365 | G6PC1 | c.686G= (p.Gly229=) c.*78G= (n.*78G=) | |
| 17 | g.42911038G>T | CA399655820 | G6PC1 | c.686G>T (p.Gly229Val) c.*78G>T (n.*78G>T) | |
| 17 | g.42911039A>C | CA500104794 | G6PC1 | c.687A>C (p.Gly229=) c.*79A>C (n.*79A>C) | |
| 17 | g.42911039A>G | CA500104796 | G6PC1 | c.687A>G (p.Gly229=) c.*79A>G (n.*79A>G) | |
| 17 | g.42911039A>T | CA500104797 | G6PC1 | c.687A>T (p.Gly229=) c.*79A>T (n.*79A>T) | gnomAD v4 |
| 17 | g.42911040C>A | CA399655821 | G6PC1 | c.688C>A (p.Leu230Met) c.*80C>A (n.*80C>A) | |
| 17 | g.42911040C= | CA2260697366 | G6PC1 | c.688C= (p.Leu230=) c.*80C= (n.*80C=) | |
| 17 | g.42911040C>G | CA399655822 | G6PC1 | c.688C>G (p.Leu230Val) c.*80C>G (n.*80C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911040C>T | CA500104805 | G6PC1 | c.688C>T (p.Leu230=) c.*80C>T (n.*80C>T) | |
| 17 | g.42911041T>A | CA399655823 | G6PC1 | c.689T>A (p.Leu230Gln) c.*81T>A (n.*81T>A) | |
| 17 | g.42911041T>C | CA399655827 | G6PC1 | c.689T>C (p.Leu230Pro) c.*81T>C (n.*81T>C) | ClinVar dbSNP |
| 17 | g.42911041T>G | CA399655825 | G6PC1 | c.689T>G (p.Leu230Arg) c.*81T>G (n.*81T>G) | dbSNP gnomAD v4 |
| 17 | g.42911041T= | CA2260697367 | G6PC1 | c.689T= (p.Leu230=) c.*81T= (n.*81T=) | |
| 17 | g.42911042G>A | CA500104810 | G6PC1 | c.690G>A (p.Leu230=) c.*82G>A (n.*82G>A) | |
| 17 | g.42911042G>C | CA500104812 | G6PC1 | c.690G>C (p.Leu230=) c.*82G>C (n.*82G>C) | |
| 17 | g.42911042G>T | CA500104815 | G6PC1 | c.690G>T (p.Leu230=) c.*82G>T (n.*82G>T) | |
| 17 | g.42911043G>A | CA399655829 | G6PC1 | c.691G>A (p.Gly231Ser) c.*83G>A (n.*83G>A) | |
| 17 | g.42911043G>C | CA399655832 | G6PC1 | c.691G>C (p.Gly231Arg) c.*83G>C (n.*83G>C) | |
| 17 | g.42911043G>T | CA399655830 | G6PC1 | c.691G>T (p.Gly231Cys) c.*83G>T (n.*83G>T) | |
| 17 | g.42911044G>A | CA290789878 | G6PC1 | c.692G>A (p.Gly231Asp) c.*84G>A (n.*84G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911044G>C | CA399655834 | G6PC1 | c.692G>C (p.Gly231Ala) c.*84G>C (n.*84G>C) | |
| 17 | g.42911044G= | CA2260697368 | G6PC1 | c.692G= (p.Gly231=) c.*84G= (n.*84G=) | |
| 17 | g.42911044G>T | CA399655836 | G6PC1 | c.692G>T (p.Gly231Val) c.*84G>T (n.*84G>T) | |
| 17 | g.42911045T>A | CA500104823 | G6PC1 | c.693T>A (p.Gly231=) c.*85T>A (n.*85T>A) | |
| 17 | g.42911045T>C | CA500104825 | G6PC1 | c.693T>C (p.Gly231=) c.*85T>C (n.*85T>C) | ClinVar gnomAD v4 |
| 17 | g.42911045T>G | CA500104827 | G6PC1 | c.693T>G (p.Gly231=) c.*85T>G (n.*85T>G) | |
| 17 | g.42911046G>A | CA321017 | G6PC1 | c.694G>A (p.Val232Ile) c.*86G>A (n.*86G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911046G>C | CA399655838 | G6PC1 | c.694G>C (p.Val232Leu) c.*86G>C (n.*86G>C) | |
| 17 | g.42911046G= | CA2260697369 | G6PC1 | c.694G= (p.Val232=) c.*86G= (n.*86G=) | |
| 17 | g.42911046G>T | CA399655840 | G6PC1 | c.694G>T (p.Val232Leu) c.*86G>T (n.*86G>T) | |
| 17 | g.42911047T>A | CA399655842 | G6PC1 | c.695T>A (p.Val232Glu) c.*87T>A (n.*87T>A) | |
| 17 | g.42911047T>C | CA399655844 | G6PC1 | c.695T>C (p.Val232Ala) c.*87T>C (n.*87T>C) | |
| 17 | g.42911047T>G | CA399655845 | G6PC1 | c.695T>G (p.Val232Gly) c.*87T>G (n.*87T>G) | |
| 17 | g.42911048A>C | CA500104839 | G6PC1 | c.696A>C (p.Val232=) c.*88A>C (n.*88A>C) | |
| 17 | g.42911048A>G | CA500104835 | G6PC1 | c.696A>G (p.Val232=) c.*88A>G (n.*88A>G) | |
| 17 | g.42911048A>T | CA500104837 | G6PC1 | c.696A>T (p.Val232=) c.*88A>T (n.*88A>T) | |
| 17 | g.42911049G>A | CA399655848 | G6PC1 | c.697G>A (p.Asp233Asn) c.*89G>A (n.*89G>A) | |
| 17 | g.42911049G>C | CA399655850 | G6PC1 | c.697G>C (p.Asp233His) c.*89G>C (n.*89G>C) | |
| 17 | g.42911049G>T | CA399655851 | G6PC1 | c.697G>T (p.Asp233Tyr) c.*89G>T (n.*89G>T) | |
| 17 | g.42911050A>C | CA399655853 | G6PC1 | c.698A>C (p.Asp233Ala) c.*90A>C (n.*90A>C) | |
| 17 | g.42911050A>G | CA399655856 | G6PC1 | c.698A>G (p.Asp233Gly) c.*90A>G (n.*90A>G) | dbSNP |
| 17 | g.42911050A>T | CA399655854 | G6PC1 | c.698A>T (p.Asp233Val) c.*90A>T (n.*90A>T) | |
| 17 | g.42911051C>A | CA399655857 | G6PC1 | c.699C>A (p.Asp233Glu) c.*91C>A (n.*91C>A) | |
| 17 | g.42911051C= | CA2260697370 | G6PC1 | c.699C= (p.Asp233=) c.*91C= (n.*91C=) | |
| 17 | g.42911051C>G | CA399655858 | G6PC1 | c.699C>G (p.Asp233Glu) c.*91C>G (n.*91C>G) | |
| 17 | g.42911051C>T | CA500104853 | G6PC1 | c.699C>T (p.Asp233=) c.*91C>T (n.*91C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911052C>A | CA399655861 | G6PC1 | c.700C>A (p.Leu234Ile) c.*92C>A (n.*92C>A) | gnomAD v4 |
| 17 | g.42911052C= | CA2260697371 | G6PC1 | c.700C= (p.Leu234=) c.*92C= (n.*92C=) | |
| 17 | g.42911052C>G | CA399655862 | G6PC1 | c.700C>G (p.Leu234Val) c.*92C>G (n.*92C>G) | |
| 17 | g.42911052C>T | CA399655864 | G6PC1 | c.700C>T (p.Leu234Phe) c.*92C>T (n.*92C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42911053T>A | CA399655866 | G6PC1 | c.701T>A (p.Leu234His) c.*93T>A (n.*93T>A) | |
| 17 | g.42911053T>C | CA399655868 | G6PC1 | c.701T>C (p.Leu234Pro) c.*93T>C (n.*93T>C) | |
| 17 | g.42911053T>G | CA399655870 | G6PC1 | c.701T>G (p.Leu234Arg) c.*93T>G (n.*93T>G) | |
| 17 | g.42911054C>A | CA500104863 | G6PC1 | c.702C>A (p.Leu234=) c.*94C>A (n.*94C>A) | |
| 17 | g.42911054C= | CA2260697372 | G6PC1 | c.702C= (p.Leu234=) c.*94C= (n.*94C=) | |
| 17 | g.42911054C>G | CA500104864 | G6PC1 | c.702C>G (p.Leu234=) c.*94C>G (n.*94C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911054C>T | CA500104866 | G6PC1 | c.702C>T (p.Leu234=) c.*94C>T (n.*94C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911055del | CA983871583 | G6PC1 | c.703del (p.Leu235CysfsTer?) c.*95del (n.*95del) | gnomAD v3 gnomAD v4 |
| 17 | g.42911055C>A | CA399655871 | G6PC1 | c.703C>A (p.Leu235Met) c.*95C>A (n.*95C>A) | |
| 17 | g.42911055C>G | CA399655872 | G6PC1 | c.703C>G (p.Leu235Val) c.*95C>G (n.*95C>G) | |
| 17 | g.42911055C>T | CA500104869 | G6PC1 | c.703C>T (p.Leu235=) c.*95C>T (n.*95C>T) | |
| 17 | g.42911056T>A | CA399655875 | G6PC1 | c.704T>A (p.Leu235Gln) c.*96T>A (n.*96T>A) | |
| 17 | g.42911056T>C | CA399655877 | G6PC1 | c.704T>C (p.Leu235Pro) c.*96T>C (n.*96T>C) | |
| 17 | g.42911056T>G | CA399655874 | G6PC1 | c.704T>G (p.Leu235Arg) c.*96T>G (n.*96T>G) | gnomAD v3 gnomAD v4 |
| 17 | g.42911057G>A | CA500104876 | G6PC1 | c.705G>A (p.Leu235=) c.*97G>A (n.*97G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911057G>C | CA500104880 | G6PC1 | c.705G>C (p.Leu235=) c.*97G>C (n.*97G>C) | |
| 17 | g.42911057G= | CA2260697373 | G6PC1 | c.705G= (p.Leu235=) c.*97G= (n.*97G=) | |
| 17 | g.42911057G>T | CA500104878 | G6PC1 | c.705G>T (p.Leu235=) c.*97G>T (n.*97G>T) | |
| 17 | g.42911058T>A | CA399655878 | G6PC1 | c.706T>A (p.Trp236Arg) c.*98T>A (n.*98T>A) | ClinVar dbSNP |
| 17 | g.42911058T>C | CA399655881 | G6PC1 | c.706T>C (p.Trp236Arg) c.*98T>C (n.*98T>C) | |
| 17 | g.42911058T>G | CA399655882 | G6PC1 | c.706T>G (p.Trp236Gly) c.*98T>G (n.*98T>G) | ClinVar |
| 17 | g.42911058T= | CA2260697374 | G6PC1 | c.706T= (p.Trp236=) c.*98T= (n.*98T=) | |
| 17 | g.42911059G>A | CA399655884 | G6PC1 | c.707G>A (p.Trp236Ter) c.*99G>A (n.*99G>A) | ClinVar dbSNP |
| 17 | g.42911059G>C | CA399655886 | G6PC1 | c.707G>C (p.Trp236Ser) c.*99G>C (n.*99G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42911059G= | CA2260697375 | G6PC1 | c.707G= (p.Trp236=) c.*99G= (n.*99G=) | |
| 17 | g.42911059G>T | CA399655887 | G6PC1 | c.707G>T (p.Trp236Leu) c.*99G>T (n.*99G>T) | |
| 17 | g.42911060G>A | CA399655889 | G6PC1 | c.708G>A (p.Trp236Ter) c.*100G>A (n.*100G>A) | ClinVar dbSNP |
| 17 | g.42911060G>C | CA399655890 | G6PC1 | c.708G>C (p.Trp236Cys) c.*100G>C (n.*100G>C) | |
| 17 | g.42911060G>T | CA399655892 | G6PC1 | c.708G>T (p.Trp236Cys) c.*100G>T (n.*100G>T) | |
| 17 | g.42911061A= | CA2260697376 | G6PC1 | c.709A= (p.Thr237=) c.*101A= (n.*101A=) | |
| 17 | g.42911061A>C | CA399655896 | G6PC1 | c.709A>C (p.Thr237Pro) c.*101A>C (n.*101A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42911061A>G | CA399655897 | G6PC1 | c.709A>G (p.Thr237Ala) c.*101A>G (n.*101A>G) | gnomAD v4 |
| 17 | g.42911061A>T | CA399655899 | G6PC1 | c.709A>T (p.Thr237Ser) c.*101A>T (n.*101A>T) | gnomAD v3 gnomAD v4 |
| 17 | g.42911062C>A | CA399655902 | G6PC1 | c.710C>A (p.Thr237Asn) c.*102C>A (n.*102C>A) | |
| 17 | g.42911062C>G | CA399655904 | G6PC1 | c.710C>G (p.Thr237Ser) c.*102C>G (n.*102C>G) | |
| 17 | g.42911062C>T | CA399655900 | G6PC1 | c.710C>T (p.Thr237Ile) c.*102C>T (n.*102C>T) | |
| 17 | g.42911062_42911063insGCCGTA | CA983871595 | G6PC1 | c.710_711insGCCGTA (p.Thr237_Leu238insProTyr) c.*102_*103insGCCGTA (n.*102_*103insGCCGTA) | gnomAD v3 gnomAD v4 |
| 17 | g.42911063T>A | CA500104890 | G6PC1 | c.711T>A (p.Thr237=) c.*103T>A (n.*103T>A) | |
| 17 | g.42911063T>C | CA500104891 | G6PC1 | c.711T>C (p.Thr237=) c.*103T>C (n.*103T>C) | |
| 17 | g.42911063T>G | CA500104892 | G6PC1 | c.711T>G (p.Thr237=) c.*103T>G (n.*103T>G) | |
| 17 | g.42911064C>A | CA399655905 | G6PC1 | c.712C>A (p.Leu238Met) c.*104C>A (n.*104C>A) | |
| 17 | g.42911064C>G | CA399655906 | G6PC1 | c.712C>G (p.Leu238Val) c.*104C>G (n.*104C>G) | |
| 17 | g.42911064C>T | CA500104893 | G6PC1 | c.712C>T (p.Leu238=) c.*104C>T (n.*104C>T) | |
| 17 | g.42911064_42911065insA | CA983871601 | G6PC1 | c.712_713insA (p.Leu238HisfsTer17) c.*104_*105insA (n.*104_*105insA) | gnomAD v3 gnomAD v4 |
| 17 | g.42911065T>A | CA399655908 | G6PC1 | c.713T>A (p.Leu238Gln) c.*105T>A (n.*105T>A) | |
| 17 | g.42911065T>C | CA399655910 | G6PC1 | c.713T>C (p.Leu238Pro) c.*105T>C (n.*105T>C) | |
| 17 | g.42911065T>G | CA399655911 | G6PC1 | c.713T>G (p.Leu238Arg) c.*105T>G (n.*105T>G) | |
| 17 | g.42911066G>A | CA500104895 | G6PC1 | c.714G>A (p.Leu238=) c.*106G>A (n.*106G>A) | |
| 17 | g.42911066G>C | CA500104896 | G6PC1 | c.714G>C (p.Leu238=) c.*106G>C (n.*106G>C) | |
| 17 | g.42911066G>T | CA500104897 | G6PC1 | c.714G>T (p.Leu238=) c.*106G>T (n.*106G>T) | gnomAD v4 |
| 17 | g.42911067del | CA2695226079 | G6PC1 | c.715del (p.Glu239ArgfsTer?) c.*107del (n.*107del) | |
| 17 | g.42911067G>A | CA399655915 | G6PC1 | c.715G>A (p.Glu239Lys) c.*107G>A (n.*107G>A) | gnomAD v4 |
| 17 | g.42911067G>C | CA399655913 | G6PC1 | c.715G>C (p.Glu239Gln) c.*107G>C (n.*107G>C) | |
| 17 | g.42911067G>T | CA399655914 | G6PC1 | c.715G>T (p.Glu239Ter) c.*107G>T (n.*107G>T) | |
| 17 | g.42911068A>C | CA399655916 | G6PC1 | c.716A>C (p.Glu239Ala) c.*108A>C (n.*108A>C) | |
| 17 | g.42911068A>G | CA399655917 | G6PC1 | c.716A>G (p.Glu239Gly) c.*108A>G (n.*108A>G) | |
| 17 | g.42911068A>T | CA399655919 | G6PC1 | c.716A>T (p.Glu239Val) c.*108A>T (n.*108A>T) | |
| 17 | g.42911069G>A | CA500229430 | G6PC1 | c.717G>A (p.Glu239=) c.*109G>A (n.*109G>A) | gnomAD v3 gnomAD v4 |
| 17 | g.42911069G>C | CA399655920 | G6PC1 | c.717G>C (p.Glu239Asp) c.*109G>C (n.*109G>C) | |
| 17 | g.42911069G>T | CA399655921 | G6PC1 | c.717G>T (p.Glu239Asp) c.*109G>T (n.*109G>T) | |
| 17 | g.42911070A>C | CA399655922 | G6PC1 | c.718A>C (p.Lys240Gln) c.*110A>C (n.*110A>C) | |
| 17 | g.42911070A>G | CA399655925 | G6PC1 | c.718A>G (p.Lys240Glu) c.*110A>G (n.*110A>G) | |
| 17 | g.42911070A>T | CA399655924 | G6PC1 | c.718A>T (p.Lys240Ter) c.*110A>T (n.*110A>T) | |
| 17 | g.42911071A>C | CA399655927 | G6PC1 | c.719A>C (p.Lys240Thr) c.*111A>C (n.*111A>C) | |
| 17 | g.42911071A>G | CA399655931 | G6PC1 | c.719A>G (p.Lys240Arg) c.*111A>G (n.*111A>G) | |
| 17 | g.42911071A>T | CA399655929 | G6PC1 | c.719A>T (p.Lys240Ile) c.*111A>T (n.*111A>T) | |
| 17 | g.42911072A>C | CA399655933 | G6PC1 | c.720A>C (p.Lys240Asn) c.*112A>C (n.*112A>C) | |
| 17 | g.42911072A>G | CA500229431 | G6PC1 | c.720A>G (p.Lys240=) c.*112A>G (n.*112A>G) | |
| 17 | g.42911072A>T | CA399655935 | G6PC1 | c.720A>T (p.Lys240Asn) c.*112A>T (n.*112A>T) | |
| 17 | g.42911073G>A | CA399655936 | G6PC1 | c.721G>A (p.Ala241Thr) c.*113G>A (n.*113G>A) | gnomAD v4 |
| 17 | g.42911073G>C | CA399655938 | G6PC1 | c.721G>C (p.Ala241Pro) c.*113G>C (n.*113G>C) | |
| 17 | g.42911073G>T | CA399655939 | G6PC1 | c.721G>T (p.Ala241Ser) c.*113G>T (n.*113G>T) | |
| 17 | g.42911073_42911078del | CA983871613 | G6PC1 | c.721_726del (p.Ala241_Gln242del) c.*113_*118del (n.*113_*118del) | gnomAD v3 gnomAD v4 |
| 17 | g.42911074C>A | CA399655940 | G6PC1 | c.722C>A (p.Ala241Asp) c.*114C>A (n.*114C>A) | |
| 17 | g.42911074C>G | CA399655942 | G6PC1 | c.722C>G (p.Ala241Gly) c.*114C>G (n.*114C>G) | |
| 17 | g.42911074C>T | CA399655944 | G6PC1 | c.722C>T (p.Ala241Val) c.*114C>T (n.*114C>T) | gnomAD v4 |
| 17 | g.42911075C>A | CA500229433 | G6PC1 | c.723C>A (p.Ala241=) c.*115C>A (n.*115C>A) | |
| 17 | g.42911075C= | CA2260697377 | G6PC1 | c.723C= (p.Ala241=) c.*115C= (n.*115C=) | |
| 17 | g.42911075C>G | CA500229434 | G6PC1 | c.723C>G (p.Ala241=) c.*115C>G (n.*115C>G) | |
| 17 | g.42911075C>T | CA8587640 | G6PC1 | c.723C>T (p.Ala241=) c.*115C>T (n.*115C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911076C>A | CA399655946 | G6PC1 | c.724C>A (p.Gln242Lys) c.*116C>A (n.*116C>A) | |
| 17 | g.42911076C= | CA2260697378 | G6PC1 | c.724C= (p.Gln242=) c.*116C= (n.*116C=) | |
| 17 | g.42911076C>G | CA399655948 | G6PC1 | c.724C>G (p.Gln242Glu) c.*116C>G (n.*116C>G) | |
| 17 | g.42911076C>T | CA341567 | G6PC1 | c.724C>T (p.Gln242Ter) c.*116C>T (n.*116C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911077A>C | CA399655955 | G6PC1 | c.725A>C (p.Gln242Pro) c.*117A>C (n.*117A>C) | |
| 17 | g.42911077A>G | CA399655957 | G6PC1 | c.725A>G (p.Gln242Arg) c.*117A>G (n.*117A>G) | |
| 17 | g.42911077A>T | CA399655958 | G6PC1 | c.725A>T (p.Gln242Leu) c.*117A>T (n.*117A>T) | |
| 17 | g.42911078G>A | CA8587641 | G6PC1 | c.726G>A (p.Gln242=) c.*118G>A (n.*118G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911078G>C | CA399655960 | G6PC1 | c.726G>C (p.Gln242His) c.*118G>C (n.*118G>C) | |
| 17 | g.42911078G= | CA2260697379 | G6PC1 | c.726G= (p.Gln242=) c.*118G= (n.*118G=) | |
| 17 | g.42911078G>T | CA290789884 | G6PC1 | c.726G>T (p.Gln242His) c.*118G>T (n.*118G>T) | dbSNP |
| 17 | g.42911079A>C | CA500229438 | G6PC1 | c.727A>C (p.Arg243=) c.*119A>C (n.*119A>C) | |
| 17 | g.42911079A>G | CA399655961 | G6PC1 | c.727A>G (p.Arg243Gly) c.*119A>G (n.*119A>G) | |
| 17 | g.42911079A>T | CA399655962 | G6PC1 | c.727A>T (p.Arg243Trp) c.*119A>T (n.*119A>T) | COSMIC |
| 17 | g.42911080G>A | CA8587642 | G6PC1 | c.728G>A (p.Arg243Lys) c.*120G>A (n.*120G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42911080G>C | CA399655965 | G6PC1 | c.728G>C (p.Arg243Thr) c.*120G>C (n.*120G>C) | |
| 17 | g.42911080G= | CA2260697380 | G6PC1 | c.728G= (p.Arg243=) c.*120G= (n.*120G=) | |
| 17 | g.42911080G>T | CA399655967 | G6PC1 | c.728G>T (p.Arg243Met) c.*120G>T (n.*120G>T) | |
| 17 | g.42911081G>A | CA500229439 | G6PC1 | c.729G>A (p.Arg243=) c.*121G>A (n.*121G>A) | ClinVar |
| 17 | g.42911081G>C | CA399655969 | G6PC1 | c.729G>C (p.Arg243Ser) c.*121G>C (n.*121G>C) | |
| 17 | g.42911081G= | CA2260697381 | G6PC1 | c.729G= (p.Arg243=) c.*121G= (n.*121G=) | |
| 17 | g.42911081G>T | CA399655970 | G6PC1 | c.729G>T (p.Arg243Ser) c.*121G>T (n.*121G>T) | dbSNP gnomAD v4 |
| 17 | g.42911082T>A | CA399655973 | G6PC1 | c.730T>A (p.Trp244Arg) c.*122T>A (n.*122T>A) | |
| 17 | g.42911082T>C | CA399655975 | G6PC1 | c.730T>C (p.Trp244Arg) c.*122T>C (n.*122T>C) | |
| 17 | g.42911082T>G | CA399655976 | G6PC1 | c.730T>G (p.Trp244Gly) c.*122T>G (n.*122T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911082T= | CA2260697382 | G6PC1 | c.730T= (p.Trp244=) c.*122T= (n.*122T=) | |
| 17 | g.42911083G>A | CA399655978 | G6PC1 | c.731G>A (p.Trp244Ter) c.*123G>A (n.*123G>A) | ClinVar dbSNP |
| 17 | g.42911083G>C | CA399655980 | G6PC1 | c.731G>C (p.Trp244Ser) c.*123G>C (n.*123G>C) | |
| 17 | g.42911083G= | CA2260697383 | G6PC1 | c.731G= (p.Trp244=) c.*123G= (n.*123G=) | |
| 17 | g.42911083G>T | CA399655982 | G6PC1 | c.731G>T (p.Trp244Leu) c.*123G>T (n.*123G>T) | |
| 17 | g.42911084G>A | CA399655985 | G6PC1 | c.732G>A (p.Trp244Ter) c.*124G>A (n.*124G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911084G>C | CA399655987 | G6PC1 | c.732G>C (p.Trp244Cys) c.*124G>C (n.*124G>C) | |
| 17 | g.42911084G= | CA2260697384 | G6PC1 | c.732G= (p.Trp244=) c.*124G= (n.*124G=) | |
| 17 | g.42911084G>T | CA399655983 | G6PC1 | c.732G>T (p.Trp244Cys) c.*124G>T (n.*124G>T) | |
| 17 | g.42911085T>A | CA399655988 | G6PC1 | c.733T>A (p.Cys245Ser) c.*125T>A (n.*125T>A) | |
| 17 | g.42911085T>C | CA399655990 | G6PC1 | c.733T>C (p.Cys245Arg) c.*125T>C (n.*125T>C) | |
| 17 | g.42911085T>G | CA399655991 | G6PC1 | c.733T>G (p.Cys245Gly) c.*125T>G (n.*125T>G) | |
| 17 | g.42911086G>A | CA8587643 | G6PC1 | c.734G>A (p.Cys245Tyr) c.*126G>A (n.*126G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42911086G>C | CA399655994 | G6PC1 | c.734G>C (p.Cys245Ser) c.*126G>C (n.*126G>C) | |
| 17 | g.42911086G= | CA2260697385 | G6PC1 | c.734G= (p.Cys245=) c.*126G= (n.*126G=) | |
| 17 | g.42911086G>T | CA399655995 | G6PC1 | c.734G>T (p.Cys245Phe) c.*126G>T (n.*126G>T) | |
| 17 | g.42911086dup | CA2695226080 | G6PC1 | c.734dup (p.Cys245TrpfsTer10) c.*126dup (n.*126dup) | |
| 17 | g.42911087C>A | CA399655997 | G6PC1 | c.735C>A (p.Cys245Ter) c.*127C>A (n.*127C>A) | ClinVar gnomAD v4 |
| 17 | g.42911087C= | CA2260697386 | G6PC1 | c.735C= (p.Cys245=) c.*127C= (n.*127C=) | |
| 17 | g.42911087C>G | CA399655999 | G6PC1 | c.735C>G (p.Cys245Trp) c.*127C>G (n.*127C>G) | |
| 17 | g.42911087C>T | CA8587644 | G6PC1 | c.735C>T (p.Cys245=) c.*127C>T (n.*127C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911087_42911094delinsGCGAGCAG | CA2695226081 | G6PC1 | c.735_742delinsGCGAGCAG (p.Cys245_Pro248delinsTrpArgAlaAla) c.*127_*134delinsGCGAGCAG (n.*127_*134delinsGCGAGCAG) | |
| 17 | g.42911087_42911095del | CA2638041262 | G6PC1 | c.735_743del (p.Cys245Ter) c.*127_*135del (n.*127_*135del) | gnomAD v4 |
| 17 | g.42911088G>A | CA290789886 | G6PC1 | c.736G>A (p.Glu246Lys) c.*128G>A (n.*128G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911088G>C | CA399656006 | G6PC1 | c.736G>C (p.Glu246Gln) c.*128G>C (n.*128G>C) | |
| 17 | g.42911088G= | CA2260697387 | G6PC1 | c.736G= (p.Glu246=) c.*128G= (n.*128G=) | |
| 17 | g.42911088G>T | CA399656008 | G6PC1 | c.736G>T (p.Glu246Ter) c.*128G>T (n.*128G>T) | |
| 17 | g.42911089A>C | CA399656020 | G6PC1 | c.737A>C (p.Glu246Ala) c.*129A>C (n.*129A>C) | |
| 17 | g.42911089A>G | CA399656011 | G6PC1 | c.737A>G (p.Glu246Gly) c.*129A>G (n.*129A>G) | |
| 17 | g.42911089A>T | CA399656014 | G6PC1 | c.737A>T (p.Glu246Val) c.*129A>T (n.*129A>T) | |
| 17 | g.42911090G>A | CA500229446 | G6PC1 | c.738G>A (p.Glu246=) c.*130G>A (n.*130G>A) | gnomAD v4 |
| 17 | g.42911090G>C | CA399656024 | G6PC1 | c.738G>C (p.Glu246Asp) c.*130G>C (n.*130G>C) | |
| 17 | g.42911090G>T | CA399656026 | G6PC1 | c.738G>T (p.Glu246Asp) c.*130G>T (n.*130G>T) | |
| 17 | g.42911091C>A | CA399656028 | G6PC1 | c.739C>A (p.Gln247Lys) c.*131C>A (n.*131C>A) | dbSNP gnomAD v4 |
| 17 | g.42911091C= | CA2260697388 | G6PC1 | c.739C= (p.Gln247=) c.*131C= (n.*131C=) | |
| 17 | g.42911091C>G | CA399656031 | G6PC1 | c.739C>G (p.Gln247Glu) c.*131C>G (n.*131C>G) | |
| 17 | g.42911091C>T | CA399656032 | G6PC1 | c.739C>T (p.Gln247Ter) c.*131C>T (n.*131C>T) | |
| 17 | g.42911094_42911097del | CA2580093784 | G6PC1 | c.742_745del (p.Pro248AsnfsTer?) c.*134_*137del (n.*134_*137del) | ClinVar |
| 17 | g.42911092A= | CA2260697389 | G6PC1 | c.740A= (p.Gln247=) c.*132A= (n.*132A=) | |
| 17 | g.42911092A>C | CA399656035 | G6PC1 | c.740A>C (p.Gln247Pro) c.*132A>C (n.*132A>C) | |
| 17 | g.42911092A>G | CA290789892 | G6PC1 | c.740A>G (p.Gln247Arg) c.*132A>G (n.*132A>G) | dbSNP |
| 17 | g.42911092A>T | CA399656041 | G6PC1 | c.740A>T (p.Gln247Leu) c.*132A>T (n.*132A>T) | |
| 17 | g.42911093G>A | CA500229450 | G6PC1 | c.741G>A (p.Gln247=) c.*133G>A (n.*133G>A) | |
| 17 | g.42911093G>C | CA399656044 | G6PC1 | c.741G>C (p.Gln247His) c.*133G>C (n.*133G>C) | |
| 17 | g.42911093G>T | CA399656045 | G6PC1 | c.741G>T (p.Gln247His) c.*133G>T (n.*133G>T) | |
| 17 | g.42911094C>A | CA399656052 | G6PC1 | c.742C>A (p.Pro248Thr) c.*134C>A (n.*134C>A) | |
| 17 | g.42911094C>G | CA399656050 | G6PC1 | c.742C>G (p.Pro248Ala) c.*134C>G (n.*134C>G) | |
| 17 | g.42911094C>T | CA399656048 | G6PC1 | c.742C>T (p.Pro248Ser) c.*134C>T (n.*134C>T) | gnomAD v4 |
| 17 | g.42911095C>A | CA399656053 | G6PC1 | c.743C>A (p.Pro248Gln) c.*135C>A (n.*135C>A) | |
| 17 | g.42911095C>G | CA399656055 | G6PC1 | c.743C>G (p.Pro248Arg) c.*135C>G (n.*135C>G) | |
| 17 | g.42911095C>T | CA399656057 | G6PC1 | c.743C>T (p.Pro248Leu) c.*135C>T (n.*135C>T) | |
| 17 | g.42911096A>C | CA500229456 | G6PC1 | c.744A>C (p.Pro248=) c.*136A>C (n.*136A>C) | |
| 17 | g.42911096A>G | CA500229454 | G6PC1 | c.744A>G (p.Pro248=) c.*136A>G (n.*136A>G) | |
| 17 | g.42911096A>T | CA500229455 | G6PC1 | c.744A>T (p.Pro248=) c.*136A>T (n.*136A>T) | |
| 17 | g.42911097G>A | CA399656058 | G6PC1 | c.745G>A (p.Glu249Lys) c.*137G>A (n.*137G>A) | COSMIC |
| 17 | g.42911097G>C | CA399656062 | G6PC1 | c.745G>C (p.Glu249Gln) c.*137G>C (n.*137G>C) | |
| 17 | g.42911097G>T | CA399656066 | G6PC1 | c.745G>T (p.Glu249Ter) c.*137G>T (n.*137G>T) | |
| 17 | g.42911098A= | CA2260697390 | G6PC1 | c.746A= (p.Glu249=) c.*138A= (n.*138A=) | |
| 17 | g.42911098A>C | CA399656072 | G6PC1 | c.746A>C (p.Glu249Ala) c.*138A>C (n.*138A>C) | |
| 17 | g.42911098A>G | CA399656067 | G6PC1 | c.746A>G (p.Glu249Gly) c.*138A>G (n.*138A>G) | |
| 17 | g.42911098A>T | CA399656070 | G6PC1 | c.746A>T (p.Glu249Val) c.*138A>T (n.*138A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911099A>C | CA399656075 | G6PC1 | c.747A>C (p.Glu249Asp) c.*139A>C (n.*139A>C) | |
| 17 | g.42911099A>G | CA500229459 | G6PC1 | c.747A>G (p.Glu249=) c.*139A>G (n.*139A>G) | ClinVar gnomAD v4 |
| 17 | g.42911099A>T | CA399656077 | G6PC1 | c.747A>T (p.Glu249Asp) c.*139A>T (n.*139A>T) | |
| 17 | g.42911100T>A | CA399656080 | G6PC1 | c.748T>A (p.Trp250Arg) c.*140T>A (n.*140T>A) | |
| 17 | g.42911100T>C | CA399656083 | G6PC1 | c.748T>C (p.Trp250Arg) c.*140T>C (n.*140T>C) | |
| 17 | g.42911100T>G | CA399656084 | G6PC1 | c.748T>G (p.Trp250Gly) c.*140T>G (n.*140T>G) | |
| 17 | g.42911101G>A | CA399656092 | G6PC1 | c.749G>A (p.Trp250Ter) c.*141G>A (n.*141G>A) | |
| 17 | g.42911101G>C | CA399656086 | G6PC1 | c.749G>C (p.Trp250Ser) c.*141G>C (n.*141G>C) | |
| 17 | g.42911101G>T | CA399656088 | G6PC1 | c.749G>T (p.Trp250Leu) c.*141G>T (n.*141G>T) | |
| 17 | g.42911102G>A | CA290789894 | G6PC1 | c.750G>A (p.Trp250Ter) c.*142G>A (n.*142G>A) | ClinVar dbSNP COSMIC |
| 17 | g.42911102G>C | CA399656095 | G6PC1 | c.750G>C (p.Trp250Cys) c.*142G>C (n.*142G>C) | |
| 17 | g.42911102G= | CA2260697391 | G6PC1 | c.750G= (p.Trp250=) c.*142G= (n.*142G=) | |
| 17 | g.42911102G>T | CA399656098 | G6PC1 | c.750G>T (p.Trp250Cys) c.*142G>T (n.*142G>T) | gnomAD v4 |
| 17 | g.42911103G>A | CA399656102 | G6PC1 | c.751G>A (p.Val251Ile) c.*143G>A (n.*143G>A) | |
| 17 | g.42911103G>C | CA399656104 | G6PC1 | c.751G>C (p.Val251Leu) c.*143G>C (n.*143G>C) | |
| 17 | g.42911103G>T | CA399656106 | G6PC1 | c.751G>T (p.Val251Phe) c.*143G>T (n.*143G>T) | |
| 17 | g.42911104T>A | CA399656108 | G6PC1 | c.752T>A (p.Val251Asp) c.*144T>A (n.*144T>A) | |
| 17 | g.42911104T>C | CA399656111 | G6PC1 | c.752T>C (p.Val251Ala) c.*144T>C (n.*144T>C) | COSMIC |
| 17 | g.42911104T>G | CA399656112 | G6PC1 | c.752T>G (p.Val251Gly) c.*144T>G (n.*144T>G) | |
| 17 | g.42911105C>A | CA500229463 | G6PC1 | c.753C>A (p.Val251=) c.*145C>A (n.*145C>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42911105C= | CA2260697392 | G6PC1 | c.753C= (p.Val251=) c.*145C= (n.*145C=) | |
| 17 | g.42911105C>G | CA500229465 | G6PC1 | c.753C>G (p.Val251=) c.*145C>G (n.*145C>G) | |
| 17 | g.42911105C>T | CA500229464 | G6PC1 | c.753C>T (p.Val251=) c.*145C>T (n.*145C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911106C>A | CA399656114 | G6PC1 | c.754C>A (p.His252Asn) c.*146C>A (n.*146C>A) | |
| 17 | g.42911106C>G | CA399656117 | G6PC1 | c.754C>G (p.His252Asp) c.*146C>G (n.*146C>G) | |
| 17 | g.42911106C>T | CA399656120 | G6PC1 | c.754C>T (p.His252Tyr) c.*146C>T (n.*146C>T) | |
| 17 | g.42911107A= | CA2260697393 | G6PC1 | c.755A= (p.His252=) c.*147A= (n.*147A=) | |
| 17 | g.42911107A>C | CA399656121 | G6PC1 | c.755A>C (p.His252Pro) c.*147A>C (n.*147A>C) | |
| 17 | g.42911107A>G | CA399656123 | G6PC1 | c.755A>G (p.His252Arg) c.*147A>G (n.*147A>G) | dbSNP |
| 17 | g.42911107A>T | CA399656122 | G6PC1 | c.755A>T (p.His252Leu) c.*147A>T (n.*147A>T) | |
| 17 | g.42911108C>A | CA399656124 | G6PC1 | c.756C>A (p.His252Gln) c.*148C>A (n.*148C>A) | |
| 17 | g.42911108C>G | CA399656129 | G6PC1 | c.756C>G (p.His252Gln) c.*148C>G (n.*148C>G) | |
| 17 | g.42911108C>T | CA500229466 | G6PC1 | c.756C>T (p.His252=) c.*148C>T (n.*148C>T) | |
| 17 | g.42911108_42911109delinsCA | CA2260697394 | G6PC1 | c.756_757delinsCA (p.His252=) c.*148_*149delinsCA (n.*148_*149delinsCA) | |
| 17 | g.42911109del | CA983871642 | G6PC1 | c.757del (p.Ile253LeufsTer?) c.*149del (n.*149del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42911109A= | CA2260697395 | G6PC1 | c.757A= (p.Ile253=) c.*149A= (n.*149A=) | |
| 17 | g.42911109A>C | CA399656131 | G6PC1 | c.757A>C (p.Ile253Leu) c.*149A>C (n.*149A>C) | |
| 17 | g.42911109A>G | CA8587645 | G6PC1 | c.757A>G (p.Ile253Val) c.*149A>G (n.*149A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911109A>T | CA399656134 | G6PC1 | c.757A>T (p.Ile253Phe) c.*149A>T (n.*149A>T) | |
| 17 | g.42911110T>A | CA399656137 | G6PC1 | c.758T>A (p.Ile253Asn) c.*150T>A (n.*150T>A) | |
| 17 | g.42911110T>C | CA399656140 | G6PC1 | c.758T>C (p.Ile253Thr) c.*150T>C (n.*150T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911110T>G | CA399656141 | G6PC1 | c.758T>G (p.Ile253Ser) c.*150T>G (n.*150T>G) | |
| 17 | g.42911110T= | CA2260697396 | G6PC1 | c.758T= (p.Ile253=) c.*150T= (n.*150T=) | |
| 17 | g.42911111T>A | CA500229468 | G6PC1 | c.759T>A (p.Ile253=) c.*151T>A (n.*151T>A) | |
| 17 | g.42911111T>C | CA500229469 | G6PC1 | c.759T>C (p.Ile253=) c.*151T>C (n.*151T>C) | |
| 17 | g.42911111T>G | CA399656144 | G6PC1 | c.759T>G (p.Ile253Met) c.*151T>G (n.*151T>G) | |
| 17 | g.42911112G>A | CA399656148 | G6PC1 | c.760G>A (p.Asp254Asn) c.*152G>A (n.*152G>A) | gnomAD v4 |
| 17 | g.42911112G>C | CA399656155 | G6PC1 | c.760G>C (p.Asp254His) c.*152G>C (n.*152G>C) | |
| 17 | g.42911112G>T | CA399656157 | G6PC1 | c.760G>T (p.Asp254Tyr) c.*152G>T (n.*152G>T) | |
| 17 | g.42911113A>C | CA399656162 | G6PC1 | c.761A>C (p.Asp254Ala) c.*153A>C (n.*153A>C) | |
| 17 | g.42911113A>G | CA399656159 | G6PC1 | c.761A>G (p.Asp254Gly) c.*153A>G (n.*153A>G) | |
| 17 | g.42911113A>T | CA399656161 | G6PC1 | c.761A>T (p.Asp254Val) c.*153A>T (n.*153A>T) | |
| 17 | g.42911115_42911116del | CA2594127696 | G6PC1 | c.763_764del (p.Thr255HisfsTer?) c.*155_*156del (n.*155_*156del) | gnomAD v3 gnomAD v4 |
| 17 | g.42911114C>A | CA399656165 | G6PC1 | c.762C>A (p.Asp254Glu) c.*154C>A (n.*154C>A) | |
| 17 | g.42911114C>G | CA399656166 | G6PC1 | c.762C>G (p.Asp254Glu) c.*154C>G (n.*154C>G) | |
| 17 | g.42911114C>T | CA500229473 | G6PC1 | c.762C>T (p.Asp254=) c.*154C>T (n.*154C>T) | ClinVar |
| 17 | g.42911115A>C | CA399656171 | G6PC1 | c.763A>C (p.Thr255Pro) c.*155A>C (n.*155A>C) | |
| 17 | g.42911115A>G | CA399656173 | G6PC1 | c.763A>G (p.Thr255Ala) c.*155A>G (n.*155A>G) | |
| 17 | g.42911115A>T | CA399656175 | G6PC1 | c.763A>T (p.Thr255Ser) c.*155A>T (n.*155A>T) | |
| 17 | g.42911116C>A | CA399656178 | G6PC1 | c.764C>A (p.Thr255Asn) c.*156C>A (n.*156C>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.42911116C= | CA2260697397 | G6PC1 | c.764C= (p.Thr255=) c.*156C= (n.*156C=) | |
| 17 | g.42911116C>G | CA399656181 | G6PC1 | c.764C>G (p.Thr255Ser) c.*156C>G (n.*156C>G) | |
| 17 | g.42911116C>T | CA399656183 | G6PC1 | c.764C>T (p.Thr255Ile) c.*156C>T (n.*156C>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42911117C>A | CA500229474 | G6PC1 | c.765C>A (p.Thr255=) c.*157C>A (n.*157C>A) | |
| 17 | g.42911117C= | CA2260697398 | G6PC1 | c.765C= (p.Thr255=) c.*157C= (n.*157C=) | |
| 17 | g.42911117C>G | CA500229476 | G6PC1 | c.765C>G (p.Thr255=) c.*157C>G (n.*157C>G) | |
| 17 | g.42911117C>T | CA500229475 | G6PC1 | c.765C>T (p.Thr255=) c.*157C>T (n.*157C>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42911118A>C | CA399656184 | G6PC1 | c.766A>C (p.Thr256Pro) c.*158A>C (n.*158A>C) | |
| 17 | g.42911118A>G | CA399656186 | G6PC1 | c.766A>G (p.Thr256Ala) c.*158A>G (n.*158A>G) | |
| 17 | g.42911118A>T | CA399656188 | G6PC1 | c.766A>T (p.Thr256Ser) c.*158A>T (n.*158A>T) |