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.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) | |
17 | g.42911246T>A | CA500229786 | G6PC1 | c.894T>A (p.Ser298=) c.*286T>A (n.*286T>A) | |
17 | g.42911246T>C | CA500229787 | G6PC1 | c.894T>C (p.Ser298=) c.*286T>C (n.*286T>C) | |
17 | g.42911246T>G | CA500229788 | G6PC1 | c.894T>G (p.Ser298=) c.*286T>G (n.*286T>G) | gnomAD v4 |
17 | g.42911247A= | CA2260697457 | G6PC1 | c.895A= (p.Ile299=) c.*287A= (n.*287A=) | |
17 | g.42911247A>C | CA399656853 | G6PC1 | c.895A>C (p.Ile299Leu) c.*287A>C (n.*287A>C) | gnomAD v4 |
17 | g.42911247A>G | CA399656850 | G6PC1 | c.895A>G (p.Ile299Val) c.*287A>G (n.*287A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911247A>T | CA399656847 | G6PC1 | c.895A>T (p.Ile299Phe) c.*287A>T (n.*287A>T) | |
17 | g.42911248T>A | CA399656861 | G6PC1 | c.896T>A (p.Ile299Asn) c.*288T>A (n.*288T>A) | |
17 | g.42911248T>C | CA8587671 | G6PC1 | c.896T>C (p.Ile299Thr) c.*288T>C (n.*288T>C) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.42911248T>G | CA399656872 | G6PC1 | c.896T>G (p.Ile299Ser) c.*288T>G (n.*288T>G) | |
17 | g.42911248T= | CA2260697458 | G6PC1 | c.896T= (p.Ile299=) c.*288T= (n.*288T=) | |
17 | g.42911249T>A | CA500229790 | G6PC1 | c.897T>A (p.Ile299=) c.*289T>A (n.*289T>A) | |
17 | g.42911249T>C | CA500229791 | G6PC1 | c.897T>C (p.Ile299=) c.*289T>C (n.*289T>C) | |
17 | g.42911249T>G | CA399656875 | G6PC1 | c.897T>G (p.Ile299Met) c.*289T>G (n.*289T>G) | |
17 | g.42911250G>A | CA399656879 | G6PC1 | c.898G>A (p.Val300Ile) c.*290G>A (n.*290G>A) | |
17 | g.42911250G>C | CA399656883 | G6PC1 | c.898G>C (p.Val300Leu) c.*290G>C (n.*290G>C) | |
17 | g.42911250G>T | CA399656891 | G6PC1 | c.898G>T (p.Val300Leu) c.*290G>T (n.*290G>T) | |
17 | g.42911251T>A | CA399656894 | G6PC1 | c.899T>A (p.Val300Glu) c.*291T>A (n.*291T>A) | |
17 | g.42911251T>C | CA399656896 | G6PC1 | c.899T>C (p.Val300Ala) c.*291T>C (n.*291T>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911251T>G | CA399656899 | G6PC1 | c.899T>G (p.Val300Gly) c.*291T>G (n.*291T>G) | |
17 | g.42911251T= | CA2260697459 | G6PC1 | c.899T= (p.Val300=) c.*291T= (n.*291T=) | |
17 | g.42911252del | CA2695226085 | G6PC1 | c.900del (p.Ala301ProfsTer12) c.*292del (n.*292del) | |
17 | g.42911252A>C | CA500229794 | G6PC1 | c.900A>C (p.Val300=) c.*292A>C (n.*292A>C) | |
17 | g.42911252A>G | CA500229795 | G6PC1 | c.900A>G (p.Val300=) c.*292A>G (n.*292A>G) | |
17 | g.42911252A>T | CA500229796 | G6PC1 | c.900A>T (p.Val300=) c.*292A>T (n.*292A>T) | |
17 | g.42911253G>A | CA399656901 | G6PC1 | c.901G>A (p.Ala301Thr) c.*293G>A (n.*293G>A) | |
17 | g.42911253G>C | CA399656903 | G6PC1 | c.901G>C (p.Ala301Pro) c.*293G>C (n.*293G>C) | |
17 | g.42911253G>T | CA399656906 | G6PC1 | c.901G>T (p.Ala301Ser) c.*293G>T (n.*293G>T) | |
17 | g.42911254C>A | CA399656916 | G6PC1 | c.902C>A (p.Ala301Asp) c.*294C>A (n.*294C>A) | |
17 | g.42911254C>G | CA399656923 | G6PC1 | c.902C>G (p.Ala301Gly) c.*294C>G (n.*294C>G) | |
17 | g.42911254C>T | CA399656911 | G6PC1 | c.902C>T (p.Ala301Val) c.*294C>T (n.*294C>T) | |
17 | g.42911255C>A | CA500229799 | G6PC1 | c.903C>A (p.Ala301=) c.*295C>A (n.*295C>A) | |
17 | g.42911255C>G | CA500229801 | G6PC1 | c.903C>G (p.Ala301=) c.*295C>G (n.*295C>G) | |
17 | g.42911255C>T | CA500229800 | G6PC1 | c.903C>T (p.Ala301=) c.*295C>T (n.*295C>T) | ClinVar |
17 | g.42911256T>A | CA399656944 | G6PC1 | c.904T>A (p.Ser302Thr) c.*296T>A (n.*296T>A) | |
17 | g.42911256T>C | CA399656940 | G6PC1 | c.904T>C (p.Ser302Pro) c.*296T>C (n.*296T>C) | |
17 | g.42911256T>G | CA399656941 | G6PC1 | c.904T>G (p.Ser302Ala) c.*296T>G (n.*296T>G) | |
17 | g.42911257C>A | CA399656948 | G6PC1 | c.905C>A (p.Ser302Tyr) c.*297C>A (n.*297C>A) | |
17 | g.42911257C>G | CA399656949 | G6PC1 | c.905C>G (p.Ser302Cys) c.*297C>G (n.*297C>G) | |
17 | g.42911257C>T | CA399656950 | G6PC1 | c.905C>T (p.Ser302Phe) c.*297C>T (n.*297C>T) | |
17 | g.42911258C>A | CA500229805 | G6PC1 | c.906C>A (p.Ser302=) c.*298C>A (n.*298C>A) | |
17 | g.42911258C>G | CA500229806 | G6PC1 | c.906C>G (p.Ser302=) c.*298C>G (n.*298C>G) | |
17 | g.42911258C>T | CA500229807 | G6PC1 | c.906C>T (p.Ser302=) c.*298C>T (n.*298C>T) | |
17 | g.42911259C>A | CA399656951 | G6PC1 | c.907C>A (p.Leu303Ile) c.*299C>A (n.*299C>A) | dbSNP gnomAD v4 |
17 | g.42911259C= | CA2260697460 | G6PC1 | c.907C= (p.Leu303=) c.*299C= (n.*299C=) | |
17 | g.42911259C>G | CA399656952 | G6PC1 | c.907C>G (p.Leu303Val) c.*299C>G (n.*299C>G) | |
17 | g.42911259C>T | CA399656955 | G6PC1 | c.907C>T (p.Leu303Phe) c.*299C>T (n.*299C>T) | |
17 | g.42911260T>A | CA399656956 | G6PC1 | c.908T>A (p.Leu303His) c.*300T>A (n.*300T>A) | |
17 | g.42911260T>C | CA399656959 | G6PC1 | c.908T>C (p.Leu303Pro) c.*300T>C (n.*300T>C) | |
17 | g.42911260T>G | CA399656962 | G6PC1 | c.908T>G (p.Leu303Arg) c.*300T>G (n.*300T>G) | |
17 | g.42911261C>A | CA500229810 | G6PC1 | c.909C>A (p.Leu303=) c.*301C>A (n.*301C>A) | |
17 | g.42911261C= | CA2260697461 | G6PC1 | c.909C= (p.Leu303=) c.*301C= (n.*301C=) | |
17 | g.42911261C>G | CA500229811 | G6PC1 | c.909C>G (p.Leu303=) c.*301C>G (n.*301C>G) | ClinVar |
17 | g.42911261C>T | CA8587672 | G6PC1 | c.909C>T (p.Leu303=) c.*301C>T (n.*301C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911262G>A | CA321240 | G6PC1 | c.910G>A (p.Val304Ile) c.*302G>A (n.*302G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42911262G>C | CA399656971 | G6PC1 | c.910G>C (p.Val304Leu) c.*302G>C (n.*302G>C) | |
17 | g.42911262G= | CA2260697462 | G6PC1 | c.910G= (p.Val304=) c.*302G= (n.*302G=) | |
17 | g.42911262G>T | CA399656974 | G6PC1 | c.910G>T (p.Val304Phe) c.*302G>T (n.*302G>T) | |
17 | g.42911263T>A | CA399656992 | G6PC1 | c.911T>A (p.Val304Asp) c.*303T>A (n.*303T>A) | |
17 | g.42911263T>C | CA399656996 | G6PC1 | c.911T>C (p.Val304Ala) c.*303T>C (n.*303T>C) | |
17 | g.42911263T>G | CA399656999 | G6PC1 | c.911T>G (p.Val304Gly) c.*303T>G (n.*303T>G) | |
17 | g.42911264C>A | CA500229815 | G6PC1 | c.912C>A (p.Val304=) c.*304C>A (n.*304C>A) | |
17 | g.42911264C>G | CA500229816 | G6PC1 | c.912C>G (p.Val304=) c.*304C>G (n.*304C>G) | |
17 | g.42911264C>T | CA500229817 | G6PC1 | c.912C>T (p.Val304=) c.*304C>T (n.*304C>T) | |
17 | g.42911265C>A | CA399657002 | G6PC1 | c.913C>A (p.Leu305Ile) c.*305C>A (n.*305C>A) | |
17 | g.42911265C= | CA2260697463 | G6PC1 | c.913C= (p.Leu305=) c.*305C= (n.*305C=) | |
17 | g.42911265C>G | CA399657004 | G6PC1 | c.913C>G (p.Leu305Val) c.*305C>G (n.*305C>G) | |
17 | g.42911265C>T | CA8587673 | G6PC1 | c.913C>T (p.Leu305Phe) c.*305C>T (n.*305C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911266T>A | CA399657010 | G6PC1 | c.914T>A (p.Leu305His) c.*306T>A (n.*306T>A) | |
17 | g.42911266T>C | CA399657013 | G6PC1 | c.914T>C (p.Leu305Pro) c.*306T>C (n.*306T>C) | |
17 | g.42911266T>G | CA399657017 | G6PC1 | c.914T>G (p.Leu305Arg) c.*306T>G (n.*306T>G) | |
17 | g.42911267C>A | CA500229821 | G6PC1 | c.915C>A (p.Leu305=) c.*307C>A (n.*307C>A) | |
17 | g.42911267C>G | CA500229823 | G6PC1 | c.915C>G (p.Leu305=) c.*307C>G (n.*307C>G) | |
17 | g.42911267C>T | CA500229822 | G6PC1 | c.915C>T (p.Leu305=) c.*307C>T (n.*307C>T) | |
17 | g.42911268C>A | CA399657019 | G6PC1 | c.916C>A (p.Leu306Met) c.*308C>A (n.*308C>A) | |
17 | g.42911268C= | CA2260697464 | G6PC1 | c.916C= (p.Leu306=) c.*308C= (n.*308C=) | |
17 | g.42911268C>G | CA399657021 | G6PC1 | c.916C>G (p.Leu306Val) c.*308C>G (n.*308C>G) | |
17 | g.42911268C>T | CA290790113 | G6PC1 | c.916C>T (p.Leu306=) c.*308C>T (n.*308C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911269T>A | CA399657029 | G6PC1 | c.917T>A (p.Leu306Gln) c.*309T>A (n.*309T>A) | |
17 | g.42911269T>C | CA399657032 | G6PC1 | c.917T>C (p.Leu306Pro) c.*309T>C (n.*309T>C) | gnomAD v4 |
17 | g.42911269T>G | CA399657026 | G6PC1 | c.917T>G (p.Leu306Arg) c.*309T>G (n.*309T>G) | |
17 | g.42911270G>A | CA500229828 | G6PC1 | c.918G>A (p.Leu306=) c.*310G>A (n.*310G>A) | ClinVar |
17 | g.42911270G>C | CA500229826 | G6PC1 | c.918G>C (p.Leu306=) c.*310G>C (n.*310G>C) | |
17 | g.42911270G>T | CA500229827 | G6PC1 | c.918G>T (p.Leu306=) c.*310G>T (n.*310G>T) | |
17 | g.42911271C>A | CA399657035 | G6PC1 | c.919C>A (p.His307Asn) c.*311C>A (n.*311C>A) | |
17 | g.42911271C>G | CA399657039 | G6PC1 | c.919C>G (p.His307Asp) c.*311C>G (n.*311C>G) | |
17 | g.42911271C>T | CA399657040 | G6PC1 | c.919C>T (p.His307Tyr) c.*311C>T (n.*311C>T) | |
17 | g.42911272A>C | CA399657044 | G6PC1 | c.920A>C (p.His307Pro) c.*312A>C (n.*312A>C) | |
17 | g.42911272A>G | CA399657048 | G6PC1 | c.920A>G (p.His307Arg) c.*312A>G (n.*312A>G) | |
17 | g.42911272A>T | CA399657059 | G6PC1 | c.920A>T (p.His307Leu) c.*312A>T (n.*312A>T) | |
17 | g.42911273C>A | CA399657062 | G6PC1 | c.921C>A (p.His307Gln) c.*313C>A (n.*313C>A) | |
17 | g.42911273C= | CA2260697465 | G6PC1 | c.921C= (p.His307=) c.*313C= (n.*313C=) | |
17 | g.42911273C>G | CA399657064 | G6PC1 | c.921C>G (p.His307Gln) c.*313C>G (n.*313C>G) | |
17 | g.42911273C>T | CA500229831 | G6PC1 | c.921C>T (p.His307=) c.*313C>T (n.*313C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.42911274G>A | CA8587674 | G6PC1 | c.922G>A (p.Val308Ile) c.*314G>A (n.*314G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42911274G>C | CA290790125 | G6PC1 | c.922G>C (p.Val308Leu) c.*314G>C (n.*314G>C) | dbSNP |
17 | g.42911274G= | CA2260697466 | G6PC1 | c.922G= (p.Val308=) c.*314G= (n.*314G=) | |
17 | g.42911274G>T | CA399657070 | G6PC1 | c.922G>T (p.Val308Phe) c.*314G>T (n.*314G>T) | |
17 | g.42911275T>A | CA399657071 | G6PC1 | c.923T>A (p.Val308Asp) c.*315T>A (n.*315T>A) | |
17 | g.42911275T>C | CA399657072 | G6PC1 | c.923T>C (p.Val308Ala) c.*315T>C (n.*315T>C) | gnomAD v4 |
17 | g.42911275T>G | CA399657073 | G6PC1 | c.923T>G (p.Val308Gly) c.*315T>G (n.*315T>G) | |
17 | g.42911276C>A | CA500229833 | G6PC1 | c.924C>A (p.Val308=) c.*316C>A (n.*316C>A) | |
17 | g.42911276C>G | CA500229834 | G6PC1 | c.924C>G (p.Val308=) c.*316C>G (n.*316C>G) | |
17 | g.42911276C>T | CA500229835 | G6PC1 | c.924C>T (p.Val308=) c.*316C>T (n.*316C>T) | COSMIC |
17 | g.42911277T>A | CA399657077 | G6PC1 | c.925T>A (p.Phe309Ile) c.*317T>A (n.*317T>A) | gnomAD v4 |
17 | g.42911277T>C | CA399657076 | G6PC1 | c.925T>C (p.Phe309Leu) c.*317T>C (n.*317T>C) | |
17 | g.42911277T>G | CA399657074 | G6PC1 | c.925T>G (p.Phe309Val) c.*317T>G (n.*317T>G) | |
17 | g.42911279del | CA2695226086 | G6PC1 | c.927del (p.Phe309LeufsTer4) c.*319del (n.*319del) | |
17 | g.42911278T>A | CA399657083 | G6PC1 | c.926T>A (p.Phe309Tyr) c.*318T>A (n.*318T>A) | |
17 | g.42911278T>C | CA399657087 | G6PC1 | c.926T>C (p.Phe309Ser) c.*318T>C (n.*318T>C) | |
17 | g.42911278T>G | CA399657088 | G6PC1 | c.926T>G (p.Phe309Cys) c.*318T>G (n.*318T>G) | |
17 | g.42911279T>A | CA399657090 | G6PC1 | c.927T>A (p.Phe309Leu) c.*319T>A (n.*319T>A) | |
17 | g.42911279T>C | CA500229836 | G6PC1 | c.927T>C (p.Phe309=) c.*319T>C (n.*319T>C) | ClinVar |
17 | g.42911279T>G | CA399657095 | G6PC1 | c.927T>G (p.Phe309Leu) c.*319T>G (n.*319T>G) | |
17 | g.42911280G>A | CA399657097 | G6PC1 | c.928G>A (p.Asp310Asn) c.*320G>A (n.*320G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42911280G>C | CA399657105 | G6PC1 | c.928G>C (p.Asp310His) c.*320G>C (n.*320G>C) | |
17 | g.42911280G= | CA2260697467 | G6PC1 | c.928G= (p.Asp310=) c.*320G= (n.*320G=) | |
17 | g.42911280G>T | CA399657115 | G6PC1 | c.928G>T (p.Asp310Tyr) c.*320G>T (n.*320G>T) | |
17 | g.42911281A>C | CA399657118 | G6PC1 | c.929A>C (p.Asp310Ala) c.*321A>C (n.*321A>C) | |
17 | g.42911281A>G | CA399657124 | G6PC1 | c.929A>G (p.Asp310Gly) c.*321A>G (n.*321A>G) | |
17 | g.42911281A>T | CA399657132 | G6PC1 | c.929A>T (p.Asp310Val) c.*321A>T (n.*321A>T) | |
17 | g.42911282C>A | CA399657136 | G6PC1 | c.930C>A (p.Asp310Glu) c.*322C>A (n.*322C>A) | |
17 | g.42911282C= | CA2260697468 | G6PC1 | c.930C= (p.Asp310=) c.*322C= (n.*322C=) | |
17 | g.42911282C>G | CA399657138 | G6PC1 | c.930C>G (p.Asp310Glu) c.*322C>G (n.*322C>G) | |
17 | g.42911282C>T | CA500229842 | G6PC1 | c.930C>T (p.Asp310=) c.*322C>T (n.*322C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911283T>A | CA399657156 | G6PC1 | c.931T>A (p.Ser311Thr) c.*323T>A (n.*323T>A) | |
17 | g.42911283T>C | CA399657153 | G6PC1 | c.931T>C (p.Ser311Pro) c.*323T>C (n.*323T>C) | |
17 | g.42911283T>G | CA399657155 | G6PC1 | c.931T>G (p.Ser311Ala) c.*323T>G (n.*323T>G) | |
17 | g.42911284C>A | CA399657160 | G6PC1 | c.932C>A (p.Ser311Tyr) c.*324C>A (n.*324C>A) | gnomAD v4 |
17 | g.42911284C>G | CA399657164 | G6PC1 | c.932C>G (p.Ser311Cys) c.*324C>G (n.*324C>G) | |
17 | g.42911284C>T | CA399657163 | G6PC1 | c.932C>T (p.Ser311Phe) c.*324C>T (n.*324C>T) | COSMIC |
17 | g.42911285C>A | CA500229845 | G6PC1 | c.933C>A (p.Ser311=) c.*325C>A (n.*325C>A) | dbSNP |
17 | g.42911285C= | CA2260697469 | G6PC1 | c.933C= (p.Ser311=) c.*325C= (n.*325C=) | |
17 | g.42911285C>G | CA500229846 | G6PC1 | c.933C>G (p.Ser311=) c.*325C>G (n.*325C>G) | |
17 | g.42911285C>T | CA500229849 | G6PC1 | c.933C>T (p.Ser311=) c.*325C>T (n.*325C>T) | dbSNP gnomAD v4 |
17 | g.42911286T>A | CA399657165 | G6PC1 | c.934T>A (p.Leu312Met) c.*326T>A (n.*326T>A) | |
17 | g.42911286T>C | CA500229851 | G6PC1 | c.934T>C (p.Leu312=) c.*326T>C (n.*326T>C) | |
17 | g.42911286T>G | CA399657166 | G6PC1 | c.934T>G (p.Leu312Val) c.*326T>G (n.*326T>G) | |
17 | g.42911287T>A | CA399657167 | G6PC1 | c.935T>A (p.Leu312Ter) c.*327T>A (n.*327T>A) | |
17 | g.42911287T>C | CA399657171 | G6PC1 | c.935T>C (p.Leu312Ser) c.*327T>C (n.*327T>C) | |
17 | g.42911287T>G | CA399657169 | G6PC1 | c.935T>G (p.Leu312Trp) c.*327T>G (n.*327T>G) | |
17 | g.42911288G>A | CA500229852 | G6PC1 | c.936G>A (p.Leu312=) c.*328G>A (n.*328G>A) | |
17 | g.42911288G>C | CA399657175 | G6PC1 | c.936G>C (p.Leu312Phe) c.*328G>C (n.*328G>C) | gnomAD v4 |
17 | g.42911288G>T | CA399657179 | G6PC1 | c.936G>T (p.Leu312Phe) c.*328G>T (n.*328G>T) | |
17 | g.42911289A>C | CA399657184 | G6PC1 | c.937A>C (p.Lys313Gln) c.*329A>C (n.*329A>C) | |
17 | g.42911289A>G | CA399657187 | G6PC1 | c.937A>G (p.Lys313Glu) c.*329A>G (n.*329A>G) | |
17 | g.42911289A>T | CA399657189 | G6PC1 | c.937A>T (p.Lys313Ter) c.*329A>T (n.*329A>T) | |
17 | g.42911290A>C | CA399657192 | G6PC1 | c.938A>C (p.Lys313Thr) c.*330A>C (n.*330A>C) | |
17 | g.42911290A>G | CA399657194 | G6PC1 | c.938A>G (p.Lys313Arg) c.*330A>G (n.*330A>G) | |
17 | g.42911290A>T | CA399657195 | G6PC1 | c.938A>T (p.Lys313Ile) c.*330A>T (n.*330A>T) | |
17 | g.42911291A= | CA2260697470 | G6PC1 | c.939A= (p.Lys313=) c.*331A= (n.*331A=) | |
17 | g.42911291A>C | CA399657196 | G6PC1 | c.939A>C (p.Lys313Asn) c.*331A>C (n.*331A>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911291A>G | CA500229857 | G6PC1 | c.939A>G (p.Lys313=) c.*331A>G (n.*331A>G) | |
17 | g.42911291A>T | CA399657197 | G6PC1 | c.939A>T (p.Lys313Asn) c.*331A>T (n.*331A>T) | |
17 | g.42911292C>A | CA399657202 | G6PC1 | c.940C>A (p.Pro314Thr) c.*332C>A (n.*332C>A) | |
17 | g.42911292C= | CA2260697471 | G6PC1 | c.940C= (p.Pro314=) c.*332C= (n.*332C=) | |
17 | g.42911292C>G | CA399657201 | G6PC1 | c.940C>G (p.Pro314Ala) c.*332C>G (n.*332C>G) | |
17 | g.42911292C>T | CA399657200 | G6PC1 | c.940C>T (p.Pro314Ser) c.*332C>T (n.*332C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911296dup | CA2638041600 | G6PC1 | c.944dup (p.Ser316IlefsTer?) c.*336dup (n.*336dup) | gnomAD v4 |
17 | g.42911293C>A | CA399657204 | G6PC1 | c.941C>A (p.Pro314His) c.*333C>A (n.*333C>A) | |
17 | g.42911293C= | CA2260697472 | G6PC1 | c.941C= (p.Pro314=) c.*333C= (n.*333C=) | |
17 | g.42911293C>G | CA399657206 | G6PC1 | c.941C>G (p.Pro314Arg) c.*333C>G (n.*333C>G) | |
17 | g.42911293C>T | CA8587675 | G6PC1 | c.941C>T (p.Pro314Leu) c.*333C>T (n.*333C>T) | dbSNP ExAC gnomAD v2 |
17 | g.42911294C>A | CA8587677 | G6PC1 | c.942C>A (p.Pro314=) c.*334C>A (n.*334C>A) | dbSNP ExAC gnomAD v2 |
17 | g.42911294C= | CA2260697473 | G6PC1 | c.942C= (p.Pro314=) c.*334C= (n.*334C=) | |
17 | g.42911294C>G | CA8587676 | G6PC1 | c.942C>G (p.Pro314=) c.*334C>G (n.*334C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911294C>T | CA500229861 | G6PC1 | c.942C>T (p.Pro314=) c.*334C>T (n.*334C>T) | |
17 | g.42911295C>A | CA399657216 | G6PC1 | c.943C>A (p.Pro315Thr) c.*335C>A (n.*335C>A) | |
17 | g.42911295C= | CA2260697474 | G6PC1 | c.943C= (p.Pro315=) c.*335C= (n.*335C=) | |
17 | g.42911295C>G | CA323719 | G6PC1 | c.943C>G (p.Pro315Ala) c.*335C>G (n.*335C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911295C>T | CA399657220 | G6PC1 | c.943C>T (p.Pro315Ser) c.*335C>T (n.*335C>T) | dbSNP COSMIC |
17 | g.42911296C>A | CA399657224 | G6PC1 | c.944C>A (p.Pro315Gln) c.*336C>A (n.*336C>A) | |
17 | g.42911296C= | CA2260697475 | G6PC1 | c.944C= (p.Pro315=) c.*336C= (n.*336C=) | |
17 | g.42911296C>G | CA399657227 | G6PC1 | c.944C>G (p.Pro315Arg) c.*336C>G (n.*336C>G) | |
17 | g.42911296C>T | CA8587678 | G6PC1 | c.944C>T (p.Pro315Leu) c.*336C>T (n.*336C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911297A= | CA2260697476 | G6PC1 | c.945A= (p.Pro315=) c.*337A= (n.*337A=) | |
17 | g.42911297A>C | CA500229864 | G6PC1 | c.945A>C (p.Pro315=) c.*337A>C (n.*337A>C) | |
17 | g.42911297A>G | CA500229866 | G6PC1 | c.945A>G (p.Pro315=) c.*337A>G (n.*337A>G) | ClinVar dbSNP |
17 | g.42911297A>T | CA500229867 | G6PC1 | c.945A>T (p.Pro315=) c.*337A>T (n.*337A>T) | dbSNP |
17 | g.42911298T>A | CA399657236 | G6PC1 | c.946T>A (p.Ser316Thr) c.*338T>A (n.*338T>A) | |
17 | g.42911298T>C | CA399657238 | G6PC1 | c.946T>C (p.Ser316Pro) c.*338T>C (n.*338T>C) | COSMIC |
17 | g.42911298T>G | CA399657235 | G6PC1 | c.946T>G (p.Ser316Ala) c.*338T>G (n.*338T>G) | |
17 | g.42911299C>A | CA399657241 | G6PC1 | c.947C>A (p.Ser316Tyr) c.*339C>A (n.*339C>A) | gnomAD v4 |
17 | g.42911299C>G | CA399657243 | G6PC1 | c.947C>G (p.Ser316Cys) c.*339C>G (n.*339C>G) | gnomAD v4 |
17 | g.42911299C>T | CA399657246 | G6PC1 | c.947C>T (p.Ser316Phe) c.*339C>T (n.*339C>T) | |
17 | g.42911300C>A | CA8587679 | G6PC1 | c.948C>A (p.Ser316=) c.*340C>A (n.*340C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911300C= | CA2260697477 | G6PC1 | c.948C= (p.Ser316=) c.*340C= (n.*340C=) | |
17 | g.42911300C>G | CA500229870 | G6PC1 | c.948C>G (p.Ser316=) c.*340C>G (n.*340C>G) | |
17 | g.42911300C>T | CA8587680 | G6PC1 | c.948C>T (p.Ser316=) c.*340C>T (n.*340C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.42911301C>A | CA399657259 | G6PC1 | c.949C>A (p.Gln317Lys) c.*341C>A (n.*341C>A) | |
17 | g.42911301C>G | CA399657257 | G6PC1 | c.949C>G (p.Gln317Glu) c.*341C>G (n.*341C>G) | |
17 | g.42911301C>T | CA399657258 | G6PC1 | c.949C>T (p.Gln317Ter) c.*341C>T (n.*341C>T) | |
17 | g.42911302A>C | CA399657261 | G6PC1 | c.950A>C (p.Gln317Pro) c.*342A>C (n.*342A>C) | |
17 | g.42911302A>G | CA399657263 | G6PC1 | c.950A>G (p.Gln317Arg) c.*342A>G (n.*342A>G) | |
17 | g.42911302A>T | CA399657266 | G6PC1 | c.950A>T (p.Gln317Leu) c.*342A>T (n.*342A>T) | |
17 | g.42911303A= | CA2260697478 | G6PC1 | c.951A= (p.Gln317=) c.*343A= (n.*343A=) | |
17 | g.42911303A>C | CA399657268 | G6PC1 | c.951A>C (p.Gln317His) c.*343A>C (n.*343A>C) | |
17 | g.42911303A>G | CA500229877 | G6PC1 | c.951A>G (p.Gln317=) c.*343A>G (n.*343A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911303A>T | CA399657270 | G6PC1 | c.951A>T (p.Gln317His) c.*343A>T (n.*343A>T) | |
17 | g.42911304G>A | CA399657274 | G6PC1 | c.952G>A (p.Val318Ile) c.*344G>A (n.*344G>A) | |
17 | g.42911304G>C | CA399657278 | G6PC1 | c.952G>C (p.Val318Leu) c.*344G>C (n.*344G>C) | |
17 | g.42911304G= | CA2260697479 | G6PC1 | c.952G= (p.Val318=) c.*344G= (n.*344G=) | |
17 | g.42911304G>T | CA399657276 | G6PC1 | c.952G>T (p.Val318Phe) c.*344G>T (n.*344G>T) | |
17 | g.42911304_42911305insGT | CA658824740 | G6PC1 | c.952_953insGT (p.Val318GlyfsTer16) c.*344_*345insGT (n.*344_*345insGT) | ClinVar dbSNP |
17 | g.42911305T>A | CA399657281 | G6PC1 | c.953T>A (p.Val318Asp) c.*345T>A (n.*345T>A) | |
17 | g.42911305T>C | CA399657285 | G6PC1 | c.953T>C (p.Val318Ala) c.*345T>C (n.*345T>C) | dbSNP gnomAD v4 |
17 | g.42911305T>G | CA399657290 | G6PC1 | c.953T>G (p.Val318Gly) c.*345T>G (n.*345T>G) | dbSNP |
17 | g.42911305T= | CA2260697480 | G6PC1 | c.953T= (p.Val318=) c.*345T= (n.*345T=) | |
17 | g.42911306C>A | CA8587682 | G6PC1 | c.954C>A (p.Val318=) c.*346C>A (n.*346C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911306C= | CA2260697481 | G6PC1 | c.954C= (p.Val318=) c.*346C= (n.*346C=) | |
17 | g.42911306C>G | CA500229881 | G6PC1 | c.954C>G (p.Val318=) c.*346C>G (n.*346C>G) | |
17 | g.42911306C>T | CA8587681 | G6PC1 | c.954C>T (p.Val318=) c.*346C>T (n.*346C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.42911307G>A | CA8587683 | G6PC1 | c.955G>A (p.Glu319Lys) c.*347G>A (n.*347G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.42911307G>C | CA399657298 | G6PC1 | c.955G>C (p.Glu319Gln) c.*347G>C (n.*347G>C) | |
17 | g.42911307G= | CA2260697482 | G6PC1 | c.955G= (p.Glu319=) c.*347G= (n.*347G=) | |
17 | g.42911307G>T | CA399657300 | G6PC1 | c.955G>T (p.Glu319Ter) c.*347G>T (n.*347G>T) | |
17 | g.42911308A>C | CA399657303 | G6PC1 | c.956A>C (p.Glu319Ala) c.*348A>C (n.*348A>C) | |
17 | g.42911308A>G | CA399657306 | G6PC1 | c.956A>G (p.Glu319Gly) c.*348A>G (n.*348A>G) | |
17 | g.42911308A>T | CA399657308 | G6PC1 | c.956A>T (p.Glu319Val) c.*348A>T (n.*348A>T) | |
17 | g.42911309G>A | CA290790151 | G6PC1 | c.957G>A (p.Glu319=) c.*349G>A (n.*349G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42911309G>C | CA399657313 | G6PC1 | c.957G>C (p.Glu319Asp) c.*349G>C (n.*349G>C) | dbSNP |
17 | g.42911309G= | CA2260697483 | G6PC1 | c.957G= (p.Glu319=) c.*349G= (n.*349G=) | |
17 | g.42911309G>T | CA399657312 | G6PC1 | c.957G>T (p.Glu319Asp) c.*349G>T (n.*349G>T) | COSMIC |
17 | g.42911310C>A | CA399657315 | G6PC1 | c.958C>A (p.Leu320Met) c.*350C>A (n.*350C>A) | |
17 | g.42911310C>G | CA399657316 | G6PC1 | c.958C>G (p.Leu320Val) c.*350C>G (n.*350C>G) | |
17 | g.42911310C>T | CA500229888 | G6PC1 | c.958C>T (p.Leu320=) c.*350C>T (n.*350C>T) | |
17 | g.42911311T>A | CA399657317 | G6PC1 | c.959T>A (p.Leu320Gln) c.*351T>A (n.*351T>A) | |
17 | g.42911311T>C | CA399657318 | G6PC1 | c.959T>C (p.Leu320Pro) c.*351T>C (n.*351T>C) | gnomAD v4 |
17 | g.42911311T>G | CA399657319 | G6PC1 | c.959T>G (p.Leu320Arg) c.*351T>G (n.*351T>G) | |
17 | g.42911312G>A | CA500229891 | G6PC1 | c.960G>A (p.Leu320=) c.*352G>A (n.*352G>A) | ClinVar |
17 | g.42911312G>C | CA500229893 | G6PC1 | c.960G>C (p.Leu320=) c.*352G>C (n.*352G>C) | |
17 | g.42911312G= | CA2260697484 | G6PC1 | c.960G= (p.Leu320=) c.*352G= (n.*352G=) | |
17 | g.42911312G>T | CA8587684 | G6PC1 | c.960G>T (p.Leu320=) c.*352G>T (n.*352G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911313G>A | CA8587685 | G6PC1 | c.961G>A (p.Val321Ile) c.*353G>A (n.*353G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911313G>C | CA399657322 | G6PC1 | c.961G>C (p.Val321Leu) c.*353G>C (n.*353G>C) | |
17 | g.42911313G= | CA2260697485 | G6PC1 | c.961G= (p.Val321=) c.*353G= (n.*353G=) | |
17 | g.42911313G>T | CA399657321 | G6PC1 | c.961G>T (p.Val321Phe) c.*353G>T (n.*353G>T) | gnomAD v4 |
17 | g.42911314T>A | CA399657323 | G6PC1 | c.962T>A (p.Val321Asp) c.*354T>A (n.*354T>A) | gnomAD v4 |
17 | g.42911314T>C | CA399657324 | G6PC1 | c.962T>C (p.Val321Ala) c.*354T>C (n.*354T>C) | gnomAD v4 |
17 | g.42911314T>G | CA399657325 | G6PC1 | c.962T>G (p.Val321Gly) c.*354T>G (n.*354T>G) | gnomAD v4 |
17 | g.42911315C>A | CA500229896 | G6PC1 | c.963C>A (p.Val321=) c.*355C>A (n.*355C>A) | |
17 | g.42911315C>G | CA500229900 | G6PC1 | c.963C>G (p.Val321=) c.*355C>G (n.*355C>G) | |
17 | g.42911315C>T | CA500229898 | G6PC1 | c.963C>T (p.Val321=) c.*355C>T (n.*355C>T) | |
17 | g.42911316T>A | CA399657327 | G6PC1 | c.964T>A (p.Phe322Ile) c.*356T>A (n.*356T>A) | |
17 | g.42911316T>C | CA399657329 | G6PC1 | c.964T>C (p.Phe322Leu) c.*356T>C (n.*356T>C) | ClinVar |
17 | g.42911316T>G | CA399657340 | G6PC1 | c.964T>G (p.Phe322Val) c.*356T>G (n.*356T>G) | ClinVar dbSNP gnomAD v4 |
17 | g.42911316T= | CA2260697486 | G6PC1 | c.964T= (p.Phe322=) c.*356T= (n.*356T=) | |
17 | g.42911317del | CA2695226087 | G6PC1 | c.965del (p.Phe322SerfsTer11) c.*357del (n.*357del) | |
17 | g.42911317T>A | CA324941 | G6PC1 | c.965T>A (p.Phe322Tyr) c.*357T>A (n.*357T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911317T>C | CA399657348 | G6PC1 | c.965T>C (p.Phe322Ser) c.*357T>C (n.*357T>C) | |
17 | g.42911317T>G | CA399657345 | G6PC1 | c.965T>G (p.Phe322Cys) c.*357T>G (n.*357T>G) | |
17 | g.42911317T= | CA2260697487 | G6PC1 | c.965T= (p.Phe322=) c.*357T= (n.*357T=) | |
17 | g.42911318C>A | CA399657352 | G6PC1 | c.966C>A (p.Phe322Leu) c.*358C>A (n.*358C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911318C= | CA2260697488 | G6PC1 | c.966C= (p.Phe322=) c.*358C= (n.*358C=) | |
17 | g.42911318C>G | CA399657354 | G6PC1 | c.966C>G (p.Phe322Leu) c.*358C>G (n.*358C>G) | |
17 | g.42911318C>T | CA500229902 | G6PC1 | c.966C>T (p.Phe322=) c.*358C>T (n.*358C>T) | ClinVar dbSNP |
17 | g.42911319T>A | CA399657358 | G6PC1 | c.967T>A (p.Tyr323Asn) c.*359T>A (n.*359T>A) | |
17 | g.42911319T>C | CA399657361 | G6PC1 | c.967T>C (p.Tyr323His) c.*359T>C (n.*359T>C) | |
17 | g.42911319T>G | CA399657362 | G6PC1 | c.967T>G (p.Tyr323Asp) c.*359T>G (n.*359T>G) | |
17 | g.42911320A>C | CA399657365 | G6PC1 | c.968A>C (p.Tyr323Ser) c.*360A>C (n.*360A>C) | |
17 | g.42911320A>G | CA399657367 | G6PC1 | c.968A>G (p.Tyr323Cys) c.*360A>G (n.*360A>G) | |
17 | g.42911320A>T | CA399657369 | G6PC1 | c.968A>T (p.Tyr323Phe) c.*360A>T (n.*360A>T) | |
17 | g.42911321C>A | CA273945 | G6PC1 | c.969C>A (p.Tyr323Ter) c.*361C>A (n.*361C>A) | ClinVar dbSNP ExAC gnomAD v4 |
17 | g.42911321C= | CA2260697489 | G6PC1 | c.969C= (p.Tyr323=) c.*361C= (n.*361C=) | |
17 | g.42911321C>G | CA399657374 | G6PC1 | c.969C>G (p.Tyr323Ter) c.*361C>G (n.*361C>G) | |
17 | g.42911321C>T | CA8587686 | G6PC1 | c.969C>T (p.Tyr323=) c.*361C>T (n.*361C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911322G>A | CA8587687 | G6PC1 | c.970G>A (p.Val324Ile) c.*362G>A (n.*362G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42911322G>C | CA399657382 | G6PC1 | c.970G>C (p.Val324Leu) c.*362G>C (n.*362G>C) | |
17 | g.42911322G= | CA2260697490 | G6PC1 | c.970G= (p.Val324=) c.*362G= (n.*362G=) | |
17 | g.42911322G>T | CA399657379 | G6PC1 | c.970G>T (p.Val324Phe) c.*362G>T (n.*362G>T) | |
17 | g.42911323T>A | CA399657384 | G6PC1 | c.971T>A (p.Val324Asp) c.*363T>A (n.*363T>A) | |
17 | g.42911323T>C | CA399657386 | G6PC1 | c.971T>C (p.Val324Ala) c.*363T>C (n.*363T>C) | |
17 | g.42911323T>G | CA399657389 | G6PC1 | c.971T>G (p.Val324Gly) c.*363T>G (n.*363T>G) | |
17 | g.42911324C>A | CA500229419 | G6PC1 | c.972C>A (p.Val324=) c.*364C>A (n.*364C>A) | COSMIC |
17 | g.42911324C>G | CA500229420 | G6PC1 | c.972C>G (p.Val324=) c.*364C>G (n.*364C>G) | |
17 | g.42911324C>T | CA500229421 | G6PC1 | c.972C>T (p.Val324=) c.*364C>T (n.*364C>T) | |
17 | g.42911325T>A | CA399657392 | G6PC1 | c.973T>A (p.Leu325Met) c.*365T>A (n.*365T>A) | |
17 | g.42911325T>C | CA500229422 | G6PC1 | c.973T>C (p.Leu325=) c.*365T>C (n.*365T>C) | |
17 | g.42911325T>G | CA399657394 | G6PC1 | c.973T>G (p.Leu325Val) c.*365T>G (n.*365T>G) | |
17 | g.42911326T>A | CA399657396 | G6PC1 | c.974T>A (p.Leu325Ter) c.*366T>A (n.*366T>A) | |
17 | g.42911326T>C | CA8587688 | G6PC1 | c.974T>C (p.Leu325Ser) c.*366T>C (n.*366T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911326T>G | CA399657404 | G6PC1 | c.974T>G (p.Leu325Trp) c.*366T>G (n.*366T>G) | |
17 | g.42911326T= | CA2260697491 | G6PC1 | c.974T= (p.Leu325=) c.*366T= (n.*366T=) | |
17 | g.42911327G>A | CA500229423 | G6PC1 | c.975G>A (p.Leu325=) c.*367G>A (n.*367G>A) | |
17 | g.42911327G>C | CA399657407 | G6PC1 | c.975G>C (p.Leu325Phe) c.*367G>C (n.*367G>C) | |
17 | g.42911327G>T | CA399657411 | G6PC1 | c.975G>T (p.Leu325Phe) c.*367G>T (n.*367G>T) | |
17 | g.42911328T>A | CA399657413 | G6PC1 | c.976T>A (p.Ser326Thr) c.*368T>A (n.*368T>A) | |
17 | g.42911328T>C | CA399657419 | G6PC1 | c.976T>C (p.Ser326Pro) c.*368T>C (n.*368T>C) | |
17 | g.42911328T>G | CA399657421 | G6PC1 | c.976T>G (p.Ser326Ala) c.*368T>G (n.*368T>G) | |
17 | g.42911329C>A | CA399657423 | G6PC1 | c.977C>A (p.Ser326Tyr) c.*369C>A (n.*369C>A) | |
17 | g.42911329C= | CA2260697493 | G6PC1 | c.977C= (p.Ser326=) c.*369C= (n.*369C=) | |
17 | g.42911329C>G | CA8587689 | G6PC1 | c.977C>G (p.Ser326Cys) c.*369C>G (n.*369C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911329C>T | CA399657425 | G6PC1 | c.977C>T (p.Ser326Phe) c.*369C>T (n.*369C>T) | gnomAD v4 |
17 | g.42911329_42911332delinsCCTT | CA2260697492 | G6PC1 | c.977_980delinsCCTT (p.Ser326=) c.*369_*372delinsCCTT (n.*369_*372delinsCCTT) | |
17 | g.42911330C>A | CA500229424 | G6PC1 | c.978C>A (p.Ser326=) c.*370C>A (n.*370C>A) | |
17 | g.42911330C>G | CA500229425 | G6PC1 | c.978C>G (p.Ser326=) c.*370C>G (n.*370C>G) | |
17 | g.42911330C>T | CA500229426 | G6PC1 | c.978C>T (p.Ser326=) c.*370C>T (n.*370C>T) | |
17 | g.42911332_42911334del | CA341570 | G6PC1 | c.980_982del (p.Phe327del) c.*372_*374del (n.*372_*374del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911331T>A | CA399657437 | G6PC1 | c.979T>A (p.Phe327Ile) c.*371T>A (n.*371T>A) | |
17 | g.42911331T>C | CA399657439 | G6PC1 | c.979T>C (p.Phe327Leu) c.*371T>C (n.*371T>C) | |
17 | g.42911331T>G | CA399657440 | G6PC1 | c.979T>G (p.Phe327Val) c.*371T>G (n.*371T>G) | |
17 | g.42911331_42911332del | CA2695226088 | G6PC1 | c.979_980del (p.Phe327LeufsTer?) c.*371_*372del (n.*371_*372del) | |
17 | g.42911332dup | CA2809535966 | G6PC1 | c.980dup (p.Cys328LeufsTer?) c.*372dup (n.*372dup) | |
17 | g.42911332T>A | CA399657442 | G6PC1 | c.980T>A (p.Phe327Tyr) c.*372T>A (n.*372T>A) | |
17 | g.42911332T>C | CA399657443 | G6PC1 | c.980T>C (p.Phe327Ser) c.*372T>C (n.*372T>C) | |
17 | g.42911332T>G | CA399657445 | G6PC1 | c.980T>G (p.Phe327Cys) c.*372T>G (n.*372T>G) | |
17 | g.42911333C>A | CA399657448 | G6PC1 | c.981C>A (p.Phe327Leu) c.*373C>A (n.*373C>A) | |
17 | g.42911333C>G | CA399657450 | G6PC1 | c.981C>G (p.Phe327Leu) c.*373C>G (n.*373C>G) | |
17 | g.42911333C>T | CA500229427 | G6PC1 | c.981C>T (p.Phe327=) c.*373C>T (n.*373C>T) | gnomAD v4 COSMIC |
17 | g.42911334T>A | CA399657457 | G6PC1 | c.982T>A (p.Cys328Ser) c.*374T>A (n.*374T>A) | |
17 | g.42911334T>C | CA399657454 | G6PC1 | c.982T>C (p.Cys328Arg) c.*374T>C (n.*374T>C) | |
17 | g.42911334T>G | CA399657453 | G6PC1 | c.982T>G (p.Cys328Gly) c.*374T>G (n.*374T>G) | |
17 | g.42911335G>A | CA399657462 | G6PC1 | c.983G>A (p.Cys328Tyr) c.*375G>A (n.*375G>A) | gnomAD v4 |
17 | g.42911335G>C | CA399657461 | G6PC1 | c.983G>C (p.Cys328Ser) c.*375G>C (n.*375G>C) | |
17 | g.42911335G>T | CA399657464 | G6PC1 | c.983G>T (p.Cys328Phe) c.*375G>T (n.*375G>T) | |
17 | g.42911336C>A | CA399657466 | G6PC1 | c.984C>A (p.Cys328Ter) c.*376C>A (n.*376C>A) | gnomAD v4 |
17 | g.42911336C>G | CA399657467 | G6PC1 | c.984C>G (p.Cys328Trp) c.*376C>G (n.*376C>G) | gnomAD v4 |
17 | g.42911336C>T | CA500229428 | G6PC1 | c.984C>T (p.Cys328=) c.*376C>T (n.*376C>T) | |
17 | g.42911337A>C | CA399657470 | G6PC1 | c.985A>C (p.Lys329Gln) c.*377A>C (n.*377A>C) | |
17 | g.42911337A>G | CA399657471 | G6PC1 | c.985A>G (p.Lys329Glu) c.*377A>G (n.*377A>G) | |
17 | g.42911337A>T | CA399657473 | G6PC1 | c.985A>T (p.Lys329Ter) c.*377A>T (n.*377A>T) | |
17 | g.42911338A>C | CA399657476 | G6PC1 | c.986A>C (p.Lys329Thr) c.*378A>C (n.*378A>C) | |
17 | g.42911338A>G | CA399657479 | G6PC1 | c.986A>G (p.Lys329Arg) c.*378A>G (n.*378A>G) | |
17 | g.42911338A>T | CA399657480 | G6PC1 | c.986A>T (p.Lys329Met) c.*378A>T (n.*378A>T) | |
17 | g.42911339G>A | CA500229429 | G6PC1 | c.987G>A (p.Lys329=) c.*379G>A (n.*379G>A) | |
17 | g.42911339G>C | CA399657483 | G6PC1 | c.987G>C (p.Lys329Asn) c.*379G>C (n.*379G>C) | |
17 | g.42911339G>T | CA399657486 | G6PC1 | c.987G>T (p.Lys329Asn) c.*379G>T (n.*379G>T) | |
17 | g.42911340A>C | CA399657487 | G6PC1 | c.988A>C (p.Ser330Arg) c.*380A>C (n.*380A>C) | |
17 | g.42911340A>G | CA399657488 | G6PC1 | c.988A>G (p.Ser330Gly) c.*380A>G (n.*380A>G) | |
17 | g.42911340A>T | CA399657489 | G6PC1 | c.988A>T (p.Ser330Cys) c.*380A>T (n.*380A>T) | |
17 | g.42911341G>A | CA399657490 | G6PC1 | c.989G>A (p.Ser330Asn) c.*381G>A (n.*381G>A) | gnomAD v4 |
17 | g.42911341G>C | CA399657492 | G6PC1 | c.989G>C (p.Ser330Thr) c.*381G>C (n.*381G>C) | |
17 | g.42911341G>T | CA399657491 | G6PC1 | c.989G>T (p.Ser330Ile) c.*381G>T (n.*381G>T) | |
17 | g.42911342T>A | CA399657493 | G6PC1 | c.990T>A (p.Ser330Arg) c.*382T>A (n.*382T>A) | |
17 | g.42911342T>C | CA8587690 | G6PC1 | c.990T>C (p.Ser330=) c.*382T>C (n.*382T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911342T>G | CA399657494 | G6PC1 | c.990T>G (p.Ser330Arg) c.*382T>G (n.*382T>G) | ClinVar dbSNP |
17 | g.42911342T= | CA2260697494 | G6PC1 | c.990T= (p.Ser330=) c.*382T= (n.*382T=) | |
17 | g.42911343G>A | CA399657495 | G6PC1 | c.991G>A (p.Ala331Thr) c.*383G>A (n.*383G>A) | gnomAD v4 |
17 | g.42911343G>C | CA399657496 | G6PC1 | c.991G>C (p.Ala331Pro) c.*383G>C (n.*383G>C) | |
17 | g.42911343G>T | CA399657498 | G6PC1 | c.991G>T (p.Ala331Ser) c.*383G>T (n.*383G>T) | |
17 | g.42911344C>A | CA399657501 | G6PC1 | c.992C>A (p.Ala331Glu) c.*384C>A (n.*384C>A) | |
17 | g.42911344C= | CA2260697495 | G6PC1 | c.992C= (p.Ala331=) c.*384C= (n.*384C=) | |
17 | g.42911344C>G | CA399657503 | G6PC1 | c.992C>G (p.Ala331Gly) c.*384C>G (n.*384C>G) | gnomAD v4 |
17 | g.42911344C>T | CA8587691 | G6PC1 | c.992C>T (p.Ala331Val) c.*384C>T (n.*384C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |