| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54845792C>A | CA389787305 | GCH1 | c.602G>T (p.Gly201Val) n.750G>T n.293-2738G>T c.308G>T (p.Gly103Val) | |
| 14 | g.54845792C= | CA2138218965 | GCH1 | c.602G= (p.Gly201=) n.750G= n.293-2738G= c.308G= (p.Gly103=) | |
| 14 | g.54845792C>G | CA389787306 | GCH1 | c.602G>C (p.Gly201Ala) n.750G>C n.293-2738G>C c.308G>C (p.Gly103Ala) | |
| 14 | g.54845792C>T | CA254720 | GCH1 | c.602G>A (p.Gly201Glu) n.750G>A n.293-2738G>A c.308G>A (p.Gly103Glu) | ClinVar dbSNP |
| 14 | g.54845793C>A | CA389787307 | GCH1 | c.601G>T (p.Gly201Ter) n.749G>T n.293-2739G>T c.307G>T (p.Gly103Ter) | ClinVar dbSNP |
| 14 | g.54845793C>G | CA389787308 | GCH1 | c.601G>C (p.Gly201Arg) n.749G>C n.293-2739G>C c.307G>C (p.Gly103Arg) | ClinVar |
| 14 | g.54845793C>T | CA389787309 | GCH1 | c.601G>A (p.Gly201Arg) n.749G>A n.293-2739G>A c.307G>A (p.Gly103Arg) | |
| 14 | g.54845794A>C | CA486482304 | GCH1 | c.600T>G (p.Ala200=) n.748T>G n.293-2740T>G c.306T>G (p.Ala102=) | |
| 14 | g.54845794A>G | CA486482306 | GCH1 | c.600T>C (p.Ala200=) n.748T>C n.293-2740T>C c.306T>C (p.Ala102=) | gnomAD v4 |
| 14 | g.54845794A>T | CA486482305 | GCH1 | c.600T>A (p.Ala200=) n.748T>A n.293-2740T>A c.306T>A (p.Ala102=) | |
| 14 | g.54845795G>A | CA389787310 | GCH1 | c.599C>T (p.Ala200Val) n.747C>T n.293-2741C>T c.305C>T (p.Ala102Val) | gnomAD v4 |
| 14 | g.54845795G>C | CA389787311 | GCH1 | c.599C>G (p.Ala200Gly) n.747C>G n.293-2741C>G c.305C>G (p.Ala102Gly) | ClinVar dbSNP |
| 14 | g.54845795G>T | CA389787312 | GCH1 | c.599C>A (p.Ala200Asp) n.747C>A n.293-2741C>A c.305C>A (p.Ala102Asp) | gnomAD v4 |
| 14 | g.54845796C>A | CA389787315 | GCH1 | c.598G>T (p.Ala200Ser) n.746G>T n.293-2742G>T c.304G>T (p.Ala102Ser) | |
| 14 | g.54845796C>G | CA389787313 | GCH1 | c.598G>C (p.Ala200Pro) n.746G>C n.293-2742G>C c.304G>C (p.Ala102Pro) | |
| 14 | g.54845796C>T | CA389787314 | GCH1 | c.598G>A (p.Ala200Thr) n.746G>A n.293-2742G>A c.304G>A (p.Ala102Thr) | gnomAD v4 |
| 14 | g.54845797del | CA2695219308 | GCH1 | c.597del (p.Ala200LeufsTer5) n.745del n.293-2743del c.303del (p.Ala102LeufsTer5) | |
| 14 | g.54845797A= | CA2138218966 | GCH1 | c.597T= (p.Pro199=) n.745T= n.293-2743T= c.303T= (p.Pro101=) | |
| 14 | g.54845797A>C | CA486482308 | GCH1 | c.597T>G (p.Pro199=) n.745T>G n.293-2743T>G c.303T>G (p.Pro101=) | |
| 14 | g.54845797A>G | CA7193529 | GCH1 | c.597T>C (p.Pro199=) n.745T>C n.293-2743T>C c.303T>C (p.Pro101=) | dbSNP ExAC gnomAD v2 |
| 14 | g.54845797A>T | CA486482309 | GCH1 | c.597T>A (p.Pro199=) n.745T>A n.293-2743T>A c.303T>A (p.Pro101=) | |
| 14 | g.54845798G>A | CA389787316 | GCH1 | c.596C>T (p.Pro199Leu) n.744C>T n.293-2744C>T c.302C>T (p.Pro101Leu) | ClinVar dbSNP |
| 14 | g.54845798G>C | CA389787317 | GCH1 | c.596C>G (p.Pro199Arg) n.744C>G n.293-2744C>G c.302C>G (p.Pro101Arg) | gnomAD v4 |
| 14 | g.54845798G>T | CA389787318 | GCH1 | c.596C>A (p.Pro199His) n.744C>A n.293-2744C>A c.302C>A (p.Pro101His) | gnomAD v4 |
| 14 | g.54845799G>A | CA389787319 | GCH1 | c.595C>T (p.Pro199Ser) n.743C>T n.293-2745C>T c.301C>T (p.Pro101Ser) | |
| 14 | g.54845799G>C | CA120284 | GCH1 | c.595C>G (p.Pro199Ala) n.743C>G n.293-2745C>G c.301C>G (p.Pro101Ala) | ClinVar dbSNP |
| 14 | g.54845799G= | CA2138218967 | GCH1 | c.595C= (p.Pro199=) n.743C= n.293-2745C= c.301C= (p.Pro101=) | |
| 14 | g.54845799G>T | CA389787320 | GCH1 | c.595C>A (p.Pro199Thr) n.743C>A n.293-2745C>A c.301C>A (p.Pro101Thr) | |
| 14 | g.54845800C>A | CA486482311 | GCH1 | c.594G>T (p.Arg198=) n.742G>T n.293-2746G>T c.300G>T (p.Arg100=) | ClinVar gnomAD v4 COSMIC |
| 14 | g.54845800C= | CA2138218968 | GCH1 | c.594G= (p.Arg198=) n.742G= n.293-2746G= c.300G= (p.Arg100=) | |
| 14 | g.54845800C>G | CA486482312 | GCH1 | c.594G>C (p.Arg198=) n.742G>C n.293-2746G>C c.300G>C (p.Arg100=) | |
| 14 | g.54845800C>T | CA7193530 | GCH1 | c.594G>A (p.Arg198=) n.742G>A n.293-2746G>A c.300G>A (p.Arg100=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.54845801C>A | CA389787321 | GCH1 | c.593G>T (p.Arg198Leu) n.741G>T n.293-2747G>T c.299G>T (p.Arg100Leu) | COSMIC |
| 14 | g.54845801C= | CA2138218969 | GCH1 | c.593G= (p.Arg198=) n.741G= n.293-2747G= c.299G= (p.Arg100=) | |
| 14 | g.54845801C>G | CA389787322 | GCH1 | c.593G>C (p.Arg198Pro) n.741G>C n.293-2747G>C c.299G>C (p.Arg100Pro) | |
| 14 | g.54845801C>T | CA7193531 | GCH1 | c.593G>A (p.Arg198Gln) n.741G>A n.293-2747G>A c.299G>A (p.Arg100Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.54845802G>A | CA260544134 | GCH1 | c.592C>T (p.Arg198Trp) n.740C>T n.293-2748C>T c.298C>T (p.Arg100Trp) | ClinVar dbSNP gnomAD v4 |
| 14 | g.54845802G>C | CA7193532 | GCH1 | c.592C>G (p.Arg198Gly) n.740C>G n.293-2748C>G c.298C>G (p.Arg100Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.54845802G= | CA2138218970 | GCH1 | c.592C= (p.Arg198=) n.740C= n.293-2748C= c.298C= (p.Arg100=) | |
| 14 | g.54845802G>T | CA486482314 | GCH1 | c.592C>A (p.Arg198=) n.740C>A n.293-2748C>A c.298C>A (p.Arg100=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.54845803C>A | CA389787323 | GCH1 | c.591G>T (p.Leu197Phe) n.739G>T n.293-2749G>T c.297G>T (p.Leu99Phe) | |
| 14 | g.54845803C>G | CA389787324 | GCH1 | c.591G>C (p.Leu197Phe) n.739G>C n.293-2749G>C c.297G>C (p.Leu99Phe) | ClinVar |
| 14 | g.54845803C>T | CA486482315 | GCH1 | c.591G>A (p.Leu197=) n.739G>A n.293-2749G>A c.297G>A (p.Leu99=) | |
| 14 | g.54845804A>C | CA389787325 | GCH1 | c.590T>G (p.Leu197Trp) n.738T>G n.293-2750T>G c.296T>G (p.Leu99Trp) | |
| 14 | g.54845804A>G | CA389787326 | GCH1 | c.590T>C (p.Leu197Ser) n.738T>C n.293-2750T>C c.296T>C (p.Leu99Ser) | |
| 14 | g.54845804A>T | CA389787327 | GCH1 | c.590T>A (p.Leu197Ter) n.738T>A n.293-2750T>A c.296T>A (p.Leu99Ter) | |
| 14 | g.54845805A>C | CA389787328 | GCH1 | c.589T>G (p.Leu197Val) n.737T>G n.293-2751T>G c.295T>G (p.Leu99Val) | |
| 14 | g.54845805A>G | CA486482316 | GCH1 | c.589T>C (p.Leu197=) n.737T>C n.293-2751T>C c.295T>C (p.Leu99=) | |
| 14 | g.54845805A>T | CA389787329 | GCH1 | c.589T>A (p.Leu197Met) n.737T>A n.293-2751T>A c.295T>A (p.Leu99Met) | |
| 14 | g.54845806G>A | CA486482318 | GCH1 | c.588C>T (p.Ala196=) n.736C>T n.293-2752C>T c.294C>T (p.Ala98=) | dbSNP gnomAD v3 gnomAD v4 |