| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54845808C>A | CA254724 | GCH1 | c.586G>T (p.Ala196Ser) n.734G>T n.293-2754G>T c.292G>T (p.Ala98Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.54845808C= | CA2138218973 | GCH1 | c.586G= (p.Ala196=) n.734G= n.293-2754G= c.292G= (p.Ala98=) | |
| 14 | g.54845808C>G | CA389787333 | GCH1 | c.586G>C (p.Ala196Pro) n.734G>C n.293-2754G>C c.292G>C (p.Ala98Pro) | |
| 14 | g.54845808C>T | CA389787334 | GCH1 | c.586G>A (p.Ala196Thr) n.734G>A n.293-2754G>A c.292G>A (p.Ala98Thr) | |
| 14 | g.54845809T>A | CA389787335 | GCH1 | c.585A>T (p.Glu195Asp) n.733A>T n.293-2755A>T c.291A>T (p.Glu97Asp) | |
| 14 | g.54845809T>C | CA486482324 | GCH1 | c.585A>G (p.Glu195=) n.733A>G n.293-2755A>G c.291A>G (p.Glu97=) | |
| 14 | g.54845809T>G | CA16606564 | GCH1 | c.585A>C (p.Glu195Asp) n.733A>C n.293-2755A>C c.291A>C (p.Glu97Asp) | ClinVar dbSNP gnomAD v4 |
| 14 | g.54845809T= | CA2138218974 | GCH1 | c.585A= (p.Glu195=) n.733A= n.293-2755A= c.291A= (p.Glu97=) | |
| 14 | g.54845810T>A | CA389787338 | GCH1 | c.584A>T (p.Glu195Val) n.732A>T n.293-2756A>T c.290A>T (p.Glu97Val) | |
| 14 | g.54845810T>C | CA389787336 | GCH1 | c.584A>G (p.Glu195Gly) n.732A>G n.293-2756A>G c.290A>G (p.Glu97Gly) | |
| 14 | g.54845810T>G | CA389787337 | GCH1 | c.584A>C (p.Glu195Ala) n.732A>C n.293-2756A>C c.290A>C (p.Glu97Ala) | |
| 14 | g.54845811C>A | CA389787339 | GCH1 | c.583G>T (p.Glu195Ter) n.731G>T n.293-2757G>T c.289G>T (p.Glu97Ter) | |
| 14 | g.54845811C>G | CA389787340 | GCH1 | c.583G>C (p.Glu195Gln) n.731G>C n.293-2757G>C c.289G>C (p.Glu97Gln) | |
| 14 | g.54845811C>T | CA389787341 | GCH1 | c.583G>A (p.Glu195Lys) n.731G>A n.293-2757G>A c.289G>A (p.Glu97Lys) | gnomAD v4 |
| 14 | g.54845811_54845816del | CA2499222643 | GCH1 | c.578_583del (p.Ile193_Glu195delinsLys) n.726_731del n.293-2762_293-2757del c.284_289del (p.Ile95_Glu97delinsLys) | ClinVar dbSNP |
| 14 | g.54845812C>A | CA486482325 | GCH1 | c.582G>T (p.Thr194=) n.730G>T n.293-2758G>T c.288G>T (p.Thr96=) | |
| 14 | g.54845812C= | CA2138218975 | GCH1 | c.582G= (p.Thr194=) n.730G= n.293-2758G= c.288G= (p.Thr96=) | |
| 14 | g.54845812C>G | CA486482327 | GCH1 | c.582G>C (p.Thr194=) n.730G>C n.293-2758G>C c.288G>C (p.Thr96=) | |
| 14 | g.54845812C>T | CA7193533 | GCH1 | c.582G>A (p.Thr194=) n.730G>A n.293-2758G>A c.288G>A (p.Thr96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.54845813G>A | CA260544149 | GCH1 | c.581C>T (p.Thr194Met) n.729C>T n.293-2759C>T c.287C>T (p.Thr96Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.54845813G>C | CA389787342 | GCH1 | c.581C>G (p.Thr194Arg) n.729C>G n.293-2759C>G c.287C>G (p.Thr96Arg) | |
| 14 | g.54845813G= | CA2138218976 | GCH1 | c.581C= (p.Thr194=) n.729C= n.293-2759C= c.287C= (p.Thr96=) | |
| 14 | g.54845813G>T | CA389787343 | GCH1 | c.581C>A (p.Thr194Lys) n.729C>A n.293-2759C>A c.287C>A (p.Thr96Lys) | gnomAD v4 |
| 14 | g.54845814T>A | CA260544157 | GCH1 | c.580A>T (p.Thr194Ser) n.728A>T n.293-2760A>T c.286A>T (p.Thr96Ser) | dbSNP gnomAD v4 |
| 14 | g.54845814T>C | CA389787344 | GCH1 | c.580A>G (p.Thr194Ala) n.728A>G n.293-2760A>G c.286A>G (p.Thr96Ala) | |
| 14 | g.54845814T>G | CA389787345 | GCH1 | c.580A>C (p.Thr194Pro) n.728A>C n.293-2760A>C c.286A>C (p.Thr96Pro) | |
| 14 | g.54845814T= | CA2138218977 | GCH1 | c.580A= (p.Thr194=) n.728A= n.293-2760A= c.286A= (p.Thr96=) | |
| 14 | g.54845815G>A | CA486482329 | GCH1 | c.579C>T (p.Ile193=) n.727C>T n.293-2761C>T c.285C>T (p.Ile95=) | gnomAD v4 |
| 14 | g.54845815G>C | CA389787346 | GCH1 | c.579C>G (p.Ile193Met) n.727C>G n.293-2761C>G c.285C>G (p.Ile95Met) | |
| 14 | g.54845815G>T | CA486482328 | GCH1 | c.579C>A (p.Ile193=) n.727C>A n.293-2761C>A c.285C>A (p.Ile95=) | gnomAD v4 |
| 14 | g.54845816A>C | CA389787349 | GCH1 | c.578T>G (p.Ile193Ser) n.726T>G n.293-2762T>G c.284T>G (p.Ile95Ser) | |
| 14 | g.54845816A>G | CA389787348 | GCH1 | c.578T>C (p.Ile193Thr) n.726T>C n.293-2762T>C c.284T>C (p.Ile95Thr) | |
| 14 | g.54845816A>T | CA389787347 | GCH1 | c.578T>A (p.Ile193Asn) n.726T>A n.293-2762T>A c.284T>A (p.Ile95Asn) | ClinVar dbSNP |
| 14 | g.54845817T>A | CA389787350 | GCH1 | c.577A>T (p.Ile193Phe) n.725A>T n.293-2763A>T c.283A>T (p.Ile95Phe) | |
| 14 | g.54845817T>C | CA389787351 | GCH1 | c.577A>G (p.Ile193Val) n.725A>G n.293-2763A>G c.283A>G (p.Ile95Val) | gnomAD v4 |
| 14 | g.54845817T>G | CA389787352 | GCH1 | c.577A>C (p.Ile193Leu) n.725A>C n.293-2763A>C c.283A>C (p.Ile95Leu) | |
| 14 | g.54845818T>A | CA7193534 | GCH1 | c.576A>T (p.Ala192=) n.724A>T n.293-2764A>T c.282A>T (p.Ala94=) | dbSNP ExAC gnomAD v2 |
| 14 | g.54845818T>C | CA486482335 | GCH1 | c.576A>G (p.Ala192=) n.724A>G n.293-2764A>G c.282A>G (p.Ala94=) | gnomAD v4 |
| 14 | g.54845818T>G | CA486482334 | GCH1 | c.576A>C (p.Ala192=) n.724A>C n.293-2764A>C c.282A>C (p.Ala94=) | |
| 14 | g.54845818T= | CA2138218978 | GCH1 | c.576A= (p.Ala192=) n.724A= n.293-2764A= c.282A= (p.Ala94=) | |
| 14 | g.54845819G>A | CA389787353 | GCH1 | c.575C>T (p.Ala192Val) n.723C>T n.293-2765C>T c.281C>T (p.Ala94Val) | |
| 14 | g.54845819G>C | CA389787354 | GCH1 | c.575C>G (p.Ala192Gly) n.723C>G n.293-2765C>G c.281C>G (p.Ala94Gly) | |
| 14 | g.54845819G>T | CA389787355 | GCH1 | c.575C>A (p.Ala192Glu) n.723C>A n.293-2765C>A c.281C>A (p.Ala94Glu) | gnomAD v4 |
| 14 | g.54845820C>A | CA389787356 | GCH1 | c.574G>T (p.Ala192Ser) n.722G>T n.293-2766G>T c.280G>T (p.Ala94Ser) | |
| 14 | g.54845820C= | CA2138218979 | GCH1 | c.574G= (p.Ala192=) n.722G= n.293-2766G= c.280G= (p.Ala94=) | |
| 14 | g.54845820C>G | CA389787357 | GCH1 | c.574G>C (p.Ala192Pro) n.722G>C n.293-2766G>C c.280G>C (p.Ala94Pro) | |
| 14 | g.54845820C>T | CA389787358 | GCH1 | c.574G>A (p.Ala192Thr) n.722G>A n.293-2766G>A c.280G>A (p.Ala94Thr) | dbSNP gnomAD v4 |
| 14 | g.54845821T>A | CA486482338 | GCH1 | c.573A>T (p.Val191=) n.721A>T n.293-2767A>T c.279A>T (p.Val93=) | |
| 14 | g.54845821T>C | CA486482340 | GCH1 | c.573A>G (p.Val191=) n.721A>G n.293-2767A>G c.279A>G (p.Val93=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.54845821T>G | CA486482339 | GCH1 | c.573A>C (p.Val191=) n.721A>C n.293-2767A>C c.279A>C (p.Val93=) |