| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54845787del | CA10588576 | GCH1 | c.610del (p.Val204Ter) n.758del n.293-2730del c.316del (p.Val106Ter) | ClinVar dbSNP |
| 14 | g.54845787C>A | CA389787297 | GCH1 | c.607G>T (p.Gly203Trp) n.755G>T n.293-2733G>T c.313G>T (p.Gly105Trp) | |
| 14 | g.54845787C= | CA2138218961 | GCH1 | c.607G= (p.Gly203=) n.755G= n.293-2733G= c.313G= (p.Gly105=) | |
| 14 | g.54845787C>G | CA389787298 | GCH1 | c.607G>C (p.Gly203Arg) n.755G>C n.293-2733G>C c.313G>C (p.Gly105Arg) | |
| 14 | g.54845787C>T | CA16606864 | GCH1 | c.607G>A (p.Gly203Arg) n.755G>A n.293-2733G>A c.313G>A (p.Gly105Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.54845788_54845790dup | CA2138218962 | GCH1 | c.605_607dup (p.Val202_Gly203insVal) n.753_755dup n.293-2735_293-2733dup c.311_313dup (p.Val104_Gly105insVal) | dbSNP |
| 14 | g.54845788G>A | CA486482296 | GCH1 | c.606C>T (p.Val202=) n.754C>T n.293-2734C>T c.312C>T (p.Val104=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.54845788G>C | CA486482298 | GCH1 | c.606C>G (p.Val202=) n.754C>G n.293-2734C>G c.312C>G (p.Val104=) | |
| 14 | g.54845788G= | CA2138218963 | GCH1 | c.606C= (p.Val202=) n.754C= n.293-2734C= c.312C= (p.Val104=) | |
| 14 | g.54845788G>T | CA486482300 | GCH1 | c.606C>A (p.Val202=) n.754C>A n.293-2734C>A c.312C>A (p.Val104=) | gnomAD v4 |
| 14 | g.54845789A>C | CA389787300 | GCH1 | c.605T>G (p.Val202Gly) n.753T>G n.293-2735T>G c.311T>G (p.Val104Gly) | |
| 14 | g.54845789A>G | CA389787301 | GCH1 | c.605T>C (p.Val202Ala) n.753T>C n.293-2735T>C c.311T>C (p.Val104Ala) | |
| 14 | g.54845789A>T | CA389787299 | GCH1 | c.605T>A (p.Val202Asp) n.753T>A n.293-2735T>A c.311T>A (p.Val104Asp) | |
| 14 | g.54845790C>A | CA389787302 | GCH1 | c.604G>T (p.Val202Phe) n.752G>T n.293-2736G>T c.310G>T (p.Val104Phe) | |
| 14 | g.54845790C= | CA2138218964 | GCH1 | c.604G= (p.Val202=) n.752G= n.293-2736G= c.310G= (p.Val104=) | |
| 14 | g.54845790C>G | CA389787303 | GCH1 | c.604G>C (p.Val202Leu) n.752G>C n.293-2736G>C c.310G>C (p.Val104Leu) | |
| 14 | g.54845790C>T | CA389787304 | GCH1 | c.604G>A (p.Val202Ile) n.752G>A n.293-2736G>A c.310G>A (p.Val104Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.54845791T>A | CA486482301 | GCH1 | c.603A>T (p.Gly201=) n.751A>T n.293-2737A>T c.309A>T (p.Gly103=) | |
| 14 | g.54845791T>C | CA486482302 | GCH1 | c.603A>G (p.Gly201=) n.751A>G n.293-2737A>G c.309A>G (p.Gly103=) | gnomAD v4 |
| 14 | g.54845791T>G | CA486482303 | GCH1 | c.603A>C (p.Gly201=) n.751A>C n.293-2737A>C c.309A>C (p.Gly103=) | |
| 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) | |
| 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=) | gnomAD v4 COSMIC |
| 14 | g.54845800C= | CA2138218968 | GCH1 | c.594G= (p.Arg198=) n.742G= n.293-2746G= c.300G= (p.Arg100=) |