Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
14 | g.54845806G>C | CA486482319 | GCH1 | c.588C>G (p.Ala196=) n.736C>G n.293-2752C>G c.294C>G (p.Ala98=) | |
14 | g.54845806G= | CA2138218971 | GCH1 | c.588C= (p.Ala196=) n.736C= n.293-2752C= c.294C= (p.Ala98=) | |
14 | g.54845806G>T | CA486482320 | GCH1 | c.588C>A (p.Ala196=) n.736C>A n.293-2752C>A c.294C>A (p.Ala98=) | |
14 | g.54845807G>A | CA389787330 | GCH1 | c.587C>T (p.Ala196Val) n.735C>T n.293-2753C>T c.293C>T (p.Ala98Val) | |
14 | g.54845807G>C | CA389787331 | GCH1 | c.587C>G (p.Ala196Gly) n.735C>G n.293-2753C>G c.293C>G (p.Ala98Gly) | dbSNP |
14 | g.54845807G= | CA2138218972 | GCH1 | c.587C= (p.Ala196=) n.735C= n.293-2753C= c.293C= (p.Ala98=) | |
14 | g.54845807G>T | CA389787332 | GCH1 | c.587C>A (p.Ala196Asp) n.735C>A n.293-2753C>A c.293C>A (p.Ala98Asp) | |
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=) |