| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54902482_54902493delinsTCGCTGCGGGGC | CA2138251532 | GCH1 | c.171_182delinsGCCCCGCAGCGA (p.Arg57=) n.319_330delinsGCCCCGCAGCGA | |
| 14 | g.54902487_54902497del | CA2138251533 | GCH1 | c.171_181del (p.Pro58GlyfsTer3) n.319_329del | dbSNP |
| 14 | g.54902489G>A | CA389794070 | GCH1 | c.175C>T (p.Arg59Cys) n.323C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.54902489G>C | CA7193669 | GCH1 | c.175C>G (p.Arg59Gly) n.323C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.54902489G= | CA2138251538 | GCH1 | c.175C= (p.Arg59=) n.323C= | |
| 14 | g.54902489G>T | CA389794068 | GCH1 | c.175C>A (p.Arg59Ser) n.323C>A | gnomAD v4 |
| 14 | g.54902492dup | CA2695219333 | GCH1 | c.175dup (p.Arg59ProfsTer6) n.323dup | |
| 14 | g.54902492del | CA2624945418 | GCH1 | c.175del (p.Arg59AlafsTer8) n.323del | gnomAD v4 |
| 14 | g.54902490G>A | CA486658866 | GCH1 | c.174C>T (p.Pro58=) n.322C>T | ClinVar |
| 14 | g.54902490G>C | CA486658868 | GCH1 | c.174C>G (p.Pro58=) n.322C>G | |
| 14 | g.54902490G>T | CA486658870 | GCH1 | c.174C>A (p.Pro58=) n.322C>A | |
| 14 | g.54902491G>A | CA389794074 | GCH1 | c.173C>T (p.Pro58Leu) n.321C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.54902491G>C | CA389794072 | GCH1 | c.173C>G (p.Pro58Arg) n.321C>G | |
| 14 | g.54902491G= | CA2138251539 | GCH1 | c.173C= (p.Pro58=) n.321C= | |
| 14 | g.54902491G>T | CA389794073 | GCH1 | c.173C>A (p.Pro58His) n.321C>A | |
| 14 | g.54902492G>A | CA389794075 | GCH1 | c.172C>T (p.Pro58Ser) n.320C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.54902492G>C | CA389794076 | GCH1 | c.172C>G (p.Pro58Ala) n.320C>G | |
| 14 | g.54902492G= | CA2138251540 | GCH1 | c.172C= (p.Pro58=) n.320C= | |
| 14 | g.54902492G>T | CA389794077 | GCH1 | c.172C>A (p.Pro58Thr) n.320C>A | |
| 14 | g.54902493C>A | CA486658873 | GCH1 | c.171G>T (p.Arg57=) n.319G>T | |
| 14 | g.54902493C>G | CA486658875 | GCH1 | c.171G>C (p.Arg57=) n.319G>C | |
| 14 | g.54902493C>T | CA486658877 | GCH1 | c.171G>A (p.Arg57=) n.319G>A | |
| 14 | g.54902494C>A | CA389794079 | GCH1 | c.170G>T (p.Arg57Leu) n.318G>T | |
| 14 | g.54902494C= | CA2138251541 | GCH1 | c.170G= (p.Arg57=) n.318G= | |
| 14 | g.54902494C>G | CA389794081 | GCH1 | c.170G>C (p.Arg57Pro) n.318G>C | |
| 14 | g.54902494C>T | CA7193670 | GCH1 | c.170G>A (p.Arg57Gln) n.318G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.54902495G>A | CA389794084 | GCH1 | c.169C>T (p.Arg57Trp) n.317C>T | gnomAD v4 COSMIC |
| 14 | g.54902495G>C | CA389794086 | GCH1 | c.169C>G (p.Arg57Gly) n.317C>G | |
| 14 | g.54902495G>T | CA486658881 | GCH1 | c.169C>A (p.Arg57=) n.317C>A | COSMIC |
| 14 | g.54902496C>A | CA389794087 | GCH1 | c.168G>T (p.Glu56Asp) n.316G>T | |
| 14 | g.54902496C>G | CA389794089 | GCH1 | c.168G>C (p.Glu56Asp) n.316G>C | |
| 14 | g.54902496C>T | CA486658882 | GCH1 | c.168G>A (p.Glu56=) n.316G>A | ClinVar dbSNP |
| 14 | g.54902497T>A | CA389794092 | GCH1 | c.167A>T (p.Glu56Val) n.315A>T | gnomAD v4 |
| 14 | g.54902497T>C | CA389794093 | GCH1 | c.167A>G (p.Glu56Gly) n.315A>G | dbSNP gnomAD v2 |
| 14 | g.54902497T>G | CA389794091 | GCH1 | c.167A>C (p.Glu56Ala) n.315A>C | |
| 14 | g.54902497T= | CA2138251542 | GCH1 | c.167A= (p.Glu56=) n.315A= | |
| 14 | g.54902498C>A | CA389794094 | GCH1 | c.166G>T (p.Glu56Ter) n.314G>T | gnomAD v4 |
| 14 | g.54902498C>G | CA389794095 | GCH1 | c.166G>C (p.Glu56Gln) n.314G>C | |
| 14 | g.54902498C>T | CA389794097 | GCH1 | c.166G>A (p.Glu56Lys) n.314G>A | gnomAD v4 COSMIC |
| 14 | g.54902499G>A | CA486658890 | GCH1 | c.165C>T (p.Gly55=) n.313C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.54902499G>C | CA486658888 | GCH1 | c.165C>G (p.Gly55=) n.313C>G | |
| 14 | g.54902499G= | CA2138251543 | GCH1 | c.165C= (p.Gly55=) n.313C= | |
| 14 | g.54902499G>T | CA486658886 | GCH1 | c.165C>A (p.Gly55=) n.313C>A | |
| 14 | g.54902500C>A | CA389794099 | GCH1 | c.164G>T (p.Gly55Val) n.312G>T | dbSNP |
| 14 | g.54902500C= | CA2138251544 | GCH1 | c.164G= (p.Gly55=) n.312G= | |
| 14 | g.54902500C>G | CA389794101 | GCH1 | c.164G>C (p.Gly55Ala) n.312G>C | |
| 14 | g.54902500C>T | CA389794102 | GCH1 | c.164G>A (p.Gly55Asp) n.312G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.54902501C>A | CA389794104 | GCH1 | c.163G>T (p.Gly55Cys) n.311G>T | |
| 14 | g.54902501C>G | CA389794107 | GCH1 | c.163G>C (p.Gly55Arg) n.311G>C | |
| 14 | g.54902501C>T | CA389794106 | GCH1 | c.163G>A (p.Gly55Ser) n.311G>A | ClinVar dbSNP |