Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.54902451C>A | CA486658791 | GCH1 | c.213G>T (p.Leu71=) n.361G>T | |
14 | g.54902451C= | CA2138251509 | GCH1 | c.213G= (p.Leu71=) n.361G= | |
14 | g.54902451C>G | CA486658792 | GCH1 | c.213G>C (p.Leu71=) n.361G>C | |
14 | g.54902451C>T | CA486658793 | GCH1 | c.213G>A (p.Leu71=) n.361G>A | dbSNP gnomAD v2 |
14 | g.54902452del | CA2573149962 | GCH1 | c.212del (p.Leu71ArgfsTer9) n.360del | ClinVar dbSNP |
14 | g.54902452A= | CA2138251510 | GCH1 | c.212T= (p.Leu71=) n.360T= | |
14 | g.54902452A>C | CA389793923 | GCH1 | c.212T>G (p.Leu71Arg) n.360T>G | |
14 | g.54902452A>G | CA389793926 | GCH1 | c.212T>C (p.Leu71Pro) n.360T>C | ClinVar dbSNP |
14 | g.54902452A>T | CA389793925 | GCH1 | c.212T>A (p.Leu71Gln) n.360T>A | |
14 | g.54902453G>A | CA7193661 | GCH1 | c.211C>T (p.Leu71=) n.359C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.54902453G>C | CA389793928 | GCH1 | c.211C>G (p.Leu71Val) n.359C>G | |
14 | g.54902453G= | CA2138251511 | GCH1 | c.211C= (p.Leu71=) n.359C= | |
14 | g.54902453G>T | CA389793930 | GCH1 | c.211C>A (p.Leu71Met) n.359C>A | |
14 | g.54902454G>A | CA486658795 | GCH1 | c.210C>T (p.Asn70=) n.358C>T | gnomAD v4 |
14 | g.54902454G>C | CA7193663 | GCH1 | c.210C>G (p.Asn70Lys) n.358C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.54902454G= | CA2138251512 | GCH1 | c.210C= (p.Asn70=) n.358C= | |
14 | g.54902454G>T | CA7193662 | GCH1 | c.210C>A (p.Asn70Lys) n.358C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.54902455T>A | CA389793936 | GCH1 | c.209A>T (p.Asn70Ile) n.357A>T | |
14 | g.54902455T>C | CA389793934 | GCH1 | c.209A>G (p.Asn70Ser) n.357A>G | |
14 | g.54902455T>G | CA389793932 | GCH1 | c.209A>C (p.Asn70Thr) n.357A>C | |
14 | g.54902456del | CA1139532950 | GCH1 | c.209del (p.Asn70ThrfsTer10) n.357del | |
14 | g.54902456T>A | CA389793938 | GCH1 | c.208A>T (p.Asn70Tyr) n.356A>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.54902456T>C | CA389793939 | GCH1 | c.208A>G (p.Asn70Asp) n.356A>G | |
14 | g.54902456T>G | CA389793940 | GCH1 | c.208A>C (p.Asn70His) n.356A>C | gnomAD v4 |
14 | g.54902456T= | CA2138251513 | GCH1 | c.208A= (p.Asn70=) n.356A= | |
14 | g.54902457A= | CA2138251514 | GCH1 | c.207T= (p.Pro69=) n.355T= | |
14 | g.54902457A>C | CA486658798 | GCH1 | c.207T>G (p.Pro69=) n.355T>G | dbSNP |
14 | g.54902457A>G | CA486658799 | GCH1 | c.207T>C (p.Pro69=) n.355T>C | |
14 | g.54902457A>T | CA486658800 | GCH1 | c.207T>A (p.Pro69=) n.355T>A | |
14 | g.54902458G>A | CA211433 | GCH1 | c.206C>T (p.Pro69Leu) n.354C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.54902458G>C | CA389793942 | GCH1 | c.206C>G (p.Pro69Arg) n.354C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.54902458G= | CA2138251515 | GCH1 | c.206C= (p.Pro69=) n.354C= | |
14 | g.54902458G>T | CA389793944 | GCH1 | c.206C>A (p.Pro69His) n.354C>A | |
14 | g.54902459G>A | CA389793949 | GCH1 | c.205C>T (p.Pro69Ser) n.353C>T | gnomAD v4 |
14 | g.54902459G>C | CA389793946 | GCH1 | c.205C>G (p.Pro69Ala) n.353C>G | |
14 | g.54902459G>T | CA389793948 | GCH1 | c.205C>A (p.Pro69Thr) n.353C>A | |
14 | g.54902460G>A | CA7193664 | GCH1 | c.204C>T (p.Leu68=) n.352C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.54902460G>C | CA486658806 | GCH1 | c.204C>G (p.Leu68=) n.352C>G | |
14 | g.54902460G= | CA2138251516 | GCH1 | c.204C= (p.Leu68=) n.352C= | |
14 | g.54902460G>T | CA486658807 | GCH1 | c.204C>A (p.Leu68=) n.352C>A | |
14 | g.54902461A>C | CA389793952 | GCH1 | c.203T>G (p.Leu68Arg) n.351T>G | |
14 | g.54902461A>G | CA389793954 | GCH1 | c.203T>C (p.Leu68Pro) n.351T>C | |
14 | g.54902461A>T | CA389793955 | GCH1 | c.203T>A (p.Leu68His) n.351T>A | |
14 | g.54902462G>A | CA389793956 | GCH1 | c.202C>T (p.Leu68Phe) n.350C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.54902462G>C | CA389793958 | GCH1 | c.202C>G (p.Leu68Val) n.350C>G | |
14 | g.54902462G= | CA2138251518 | GCH1 | c.202C= (p.Leu68=) n.350C= | |
14 | g.54902462G>T | CA389793960 | GCH1 | c.202C>A (p.Leu68Ile) n.350C>A | |
14 | g.54902462_54902471delinsGGTTCAGCTC | CA2138251517 | GCH1 | c.193_202delinsGAGCTGAACC (p.Glu65=) n.341_350delinsGAGCTGAACC | |
14 | g.54902463G>A | CA486658811 | GCH1 | c.201C>T (p.Asn67=) n.349C>T | |
14 | g.54902463G>C | CA389793961 | GCH1 | c.201C>G (p.Asn67Lys) n.349C>G | dbSNP |