| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155295555G>A | CA342755874 | PKLR | c.389C>T (p.Ser130Phe) c.197C>T (p.Ser66Phe) c.296C>T (p.Ser99Phe) c.294C>T (n.294C>T) c.548C>T (p.Ser183Phe) | |
| 1 | g.155295555G>C | CA342755873 | PKLR | c.389C>G (p.Ser130Cys) c.197C>G (p.Ser66Cys) c.296C>G (p.Ser99Cys) c.294C>G (n.294C>G) c.548C>G (p.Ser183Cys) | |
| 1 | g.155295555G= | CA1141580351 | PKLR | c.389C= (p.Ser130=) c.197C= (p.Ser66=) c.296C= (p.Ser99=) c.294C= (n.294C=) c.548C= (p.Ser183=) | |
| 1 | g.155295555G>T | CA215081 | PKLR | c.389C>A (p.Ser130Tyr) c.197C>A (p.Ser66Tyr) c.296C>A (p.Ser99Tyr) c.294C>A (n.294C>A) c.548C>A (p.Ser183Tyr) | ClinVar dbSNP |
| 1 | g.155295556A>C | CA342755877 | PKLR | c.388T>G (p.Ser130Ala) c.196T>G (p.Ser66Ala) c.295T>G (p.Ser99Ala) c.293T>G (n.293T>G) c.547T>G (p.Ser183Ala) | |
| 1 | g.155295556A>G | CA342755879 | PKLR | c.388T>C (p.Ser130Pro) c.196T>C (p.Ser66Pro) c.295T>C (p.Ser99Pro) c.293T>C (n.293T>C) c.547T>C (p.Ser183Pro) | |
| 1 | g.155295556A>T | CA342755881 | PKLR | c.388T>A (p.Ser130Thr) c.196T>A (p.Ser66Thr) c.295T>A (p.Ser99Thr) c.293T>A (n.293T>A) c.547T>A (p.Ser183Thr) | |
| 1 | g.155295557C>A | CA342755883 | PKLR | c.387G>T (p.Glu129Asp) c.195G>T (p.Glu65Asp) c.294G>T (p.Glu98Asp) c.292G>T (n.292G>T) c.546G>T (p.Glu182Asp) | |
| 1 | g.155295557C>G | CA342755885 | PKLR | c.387G>C (p.Glu129Asp) c.195G>C (p.Glu65Asp) c.294G>C (p.Glu98Asp) c.292G>C (n.292G>C) c.546G>C (p.Glu182Asp) | |
| 1 | g.155295557C>T | CA421245890 | PKLR | c.387G>A (p.Glu129=) c.195G>A (p.Glu65=) c.294G>A (p.Glu98=) c.292G>A (n.292G>A) c.546G>A (p.Glu182=) | gnomAD v4 |
| 1 | g.155295558T>A | CA342755888 | PKLR | c.386A>T (p.Glu129Val) c.194A>T (p.Glu65Val) c.293A>T (p.Glu98Val) c.291A>T (n.291A>T) c.545A>T (p.Glu182Val) | |
| 1 | g.155295558T>C | CA342755889 | PKLR | c.386A>G (p.Glu129Gly) c.194A>G (p.Glu65Gly) c.293A>G (p.Glu98Gly) c.291A>G (n.291A>G) c.545A>G (p.Glu182Gly) | |
| 1 | g.155295558T>G | CA342755891 | PKLR | c.386A>C (p.Glu129Ala) c.194A>C (p.Glu65Ala) c.293A>C (p.Glu98Ala) c.291A>C (n.291A>C) c.545A>C (p.Glu182Ala) | |
| 1 | g.155295559C>A | CA342755895 | PKLR | c.385G>T (p.Glu129Ter) c.193G>T (p.Glu65Ter) c.292G>T (p.Glu98Ter) c.290G>T (n.290G>T) c.544G>T (p.Glu182Ter) | |
| 1 | g.155295559C= | CA1200112672 | PKLR | c.385G= (p.Glu129=) c.193G= (p.Glu65=) c.292G= (p.Glu98=) c.290G= (n.290G=) c.544G= (p.Glu182=) | |
| 1 | g.155295559C>G | CA342755897 | PKLR | c.385G>C (p.Glu129Gln) c.193G>C (p.Glu65Gln) c.292G>C (p.Glu98Gln) c.290G>C (n.290G>C) c.544G>C (p.Glu182Gln) | |
| 1 | g.155295559C>T | CA1144343 | PKLR | c.385G>A (p.Glu129Lys) c.193G>A (p.Glu65Lys) c.292G>A (p.Glu98Lys) c.290G>A (n.290G>A) c.544G>A (p.Glu182Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155295560A= | CA1200112673 | PKLR | c.384T= (p.Ala128=) c.192T= (p.Ala64=) c.291T= (p.Ala97=) c.289T= (n.289T=) c.543T= (p.Ala181=) | |
| 1 | g.155295560A>C | CA421245891 | PKLR | c.384T>G (p.Ala128=) c.192T>G (p.Ala64=) c.291T>G (p.Ala97=) c.289T>G (n.289T>G) c.543T>G (p.Ala181=) | dbSNP gnomAD v4 |
| 1 | g.155295560A>G | CA421245892 | PKLR | c.384T>C (p.Ala128=) c.192T>C (p.Ala64=) c.291T>C (p.Ala97=) c.289T>C (n.289T>C) c.543T>C (p.Ala181=) | |
| 1 | g.155295560A>T | CA421245893 | PKLR | c.384T>A (p.Ala128=) c.192T>A (p.Ala64=) c.291T>A (p.Ala97=) c.289T>A (n.289T>A) c.543T>A (p.Ala181=) | |
| 1 | g.155295561G>A | CA342755905 | PKLR | c.383C>T (p.Ala128Val) c.191C>T (p.Ala64Val) c.290C>T (p.Ala97Val) c.288C>T (n.288C>T) c.542C>T (p.Ala181Val) | |
| 1 | g.155295561G>C | CA342755903 | PKLR | c.383C>G (p.Ala128Gly) c.191C>G (p.Ala64Gly) c.290C>G (p.Ala97Gly) c.288C>G (n.288C>G) c.542C>G (p.Ala181Gly) | |
| 1 | g.155295561G>T | CA342755901 | PKLR | c.383C>A (p.Ala128Asp) c.191C>A (p.Ala64Asp) c.290C>A (p.Ala97Asp) c.288C>A (n.288C>A) c.542C>A (p.Ala181Asp) | |
| 1 | g.155295562C>A | CA342755908 | PKLR | c.382G>T (p.Ala128Ser) c.190G>T (p.Ala64Ser) c.289G>T (p.Ala97Ser) c.287G>T (n.287G>T) c.541G>T (p.Ala181Ser) | gnomAD v4 |
| 1 | g.155295562C>G | CA342755910 | PKLR | c.382G>C (p.Ala128Pro) c.190G>C (p.Ala64Pro) c.289G>C (p.Ala97Pro) c.287G>C (n.287G>C) c.541G>C (p.Ala181Pro) | gnomAD v4 |
| 1 | g.155295562C>T | CA342755912 | PKLR | c.382G>A (p.Ala128Thr) c.190G>A (p.Ala64Thr) c.289G>A (p.Ala97Thr) c.287G>A (n.287G>A) c.541G>A (p.Ala181Thr) | |
| 1 | g.155295563A>C | CA342755914 | PKLR | c.381T>G (p.His127Gln) c.189T>G (p.His63Gln) c.288T>G (p.His96Gln) c.286T>G (n.286T>G) c.540T>G (p.His180Gln) | |
| 1 | g.155295563A>G | CA421245896 | PKLR | c.381T>C (p.His127=) c.189T>C (p.His63=) c.288T>C (p.His96=) c.286T>C (n.286T>C) c.540T>C (p.His180=) | |
| 1 | g.155295563A>T | CA342755916 | PKLR | c.381T>A (p.His127Gln) c.189T>A (p.His63Gln) c.288T>A (p.His96Gln) c.286T>A (n.286T>A) c.540T>A (p.His180Gln) | |
| 1 | g.155295564T>A | CA342755918 | PKLR | c.380A>T (p.His127Leu) c.188A>T (p.His63Leu) c.287A>T (p.His96Leu) c.285A>T (n.285A>T) c.539A>T (p.His180Leu) | gnomAD v4 |
| 1 | g.155295564T>C | CA342755920 | PKLR | c.380A>G (p.His127Arg) c.188A>G (p.His63Arg) c.287A>G (p.His96Arg) c.285A>G (n.285A>G) c.539A>G (p.His180Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.155295564T>G | CA342755922 | PKLR | c.380A>C (p.His127Pro) c.188A>C (p.His63Pro) c.287A>C (p.His96Pro) c.285A>C (n.285A>C) c.539A>C (p.His180Pro) | |
| 1 | g.155295564T= | CA1200112674 | PKLR | c.380A= (p.His127=) c.188A= (p.His63=) c.287A= (p.His96=) c.285A= (n.285A=) c.539A= (p.His180=) | |
| 1 | g.155295565G>A | CA342755925 | PKLR | c.379C>T (p.His127Tyr) c.187C>T (p.His63Tyr) c.286C>T (p.His96Tyr) c.284C>T (n.284C>T) c.538C>T (p.His180Tyr) | gnomAD v4 |
| 1 | g.155295565G>C | CA342755926 | PKLR | c.379C>G (p.His127Asp) c.187C>G (p.His63Asp) c.286C>G (p.His96Asp) c.284C>G (n.284C>G) c.538C>G (p.His180Asp) | ClinVar dbSNP |
| 1 | g.155295565G= | CA1200112675 | PKLR | c.379C= (p.His127=) c.187C= (p.His63=) c.286C= (p.His96=) c.284C= (n.284C=) c.538C= (p.His180=) | |
| 1 | g.155295565G>T | CA342755929 | PKLR | c.379C>A (p.His127Asn) c.187C>A (p.His63Asn) c.286C>A (p.His96Asn) c.284C>A (n.284C>A) c.538C>A (p.His180Asn) | |
| 1 | g.155295566G>A | CA421245898 | PKLR | c.378C>T (p.Tyr126=) c.186C>T (p.Tyr62=) c.285C>T (p.Tyr95=) c.283C>T (n.283C>T) c.537C>T (p.Tyr179=) | |
| 1 | g.155295566G>C | CA342755932 | PKLR | c.378C>G (p.Tyr126Ter) c.186C>G (p.Tyr62Ter) c.285C>G (p.Tyr95Ter) c.283C>G (n.283C>G) c.537C>G (p.Tyr179Ter) | |
| 1 | g.155295566G>T | CA342755934 | PKLR | c.378C>A (p.Tyr126Ter) c.186C>A (p.Tyr62Ter) c.285C>A (p.Tyr95Ter) c.283C>A (n.283C>A) c.537C>A (p.Tyr179Ter) | |
| 1 | g.155295567T>A | CA342755938 | PKLR | c.377A>T (p.Tyr126Phe) c.185A>T (p.Tyr62Phe) c.284A>T (p.Tyr95Phe) c.282A>T (n.282A>T) c.536A>T (p.Tyr179Phe) | |
| 1 | g.155295567T>C | CA342755940 | PKLR | c.377A>G (p.Tyr126Cys) c.185A>G (p.Tyr62Cys) c.284A>G (p.Tyr95Cys) c.282A>G (n.282A>G) c.536A>G (p.Tyr179Cys) | |
| 1 | g.155295567T>G | CA342755936 | PKLR | c.377A>C (p.Tyr126Ser) c.185A>C (p.Tyr62Ser) c.284A>C (p.Tyr95Ser) c.282A>C (n.282A>C) c.536A>C (p.Tyr179Ser) | |
| 1 | g.155295568A>C | CA342755945 | PKLR | c.376T>G (p.Tyr126Asp) c.184T>G (p.Tyr62Asp) c.283T>G (p.Tyr95Asp) c.281T>G (n.281T>G) c.535T>G (p.Tyr179Asp) | |
| 1 | g.155295568A>G | CA342755943 | PKLR | c.376T>C (p.Tyr126His) c.184T>C (p.Tyr62His) c.283T>C (p.Tyr95His) c.281T>C (n.281T>C) c.535T>C (p.Tyr179His) | |
| 1 | g.155295568A>T | CA342755947 | PKLR | c.376T>A (p.Tyr126Asn) c.184T>A (p.Tyr62Asn) c.283T>A (p.Tyr95Asn) c.281T>A (n.281T>A) c.535T>A (p.Tyr179Asn) | |
| 1 | g.155295569C>A | CA342755949 | PKLR | c.376-1G>T (n.376-1G>T) c.184-1G>T (n.184-1G>T) c.283-1G>T (n.283-1G>T) c.281-1G>T (n.281-1G>T) c.535-1G>T (n.535-1G>T) | |
| 1 | g.155295569C>G | CA342755951 | PKLR | c.376-1G>C (n.376-1G>C) c.184-1G>C (n.184-1G>C) c.283-1G>C (n.283-1G>C) c.281-1G>C (n.281-1G>C) c.535-1G>C (n.535-1G>C) | gnomAD v4 |
| 1 | g.155295569C>T | CA342755952 | PKLR | c.376-1G>A (n.376-1G>A) c.184-1G>A (n.184-1G>A) c.283-1G>A (n.283-1G>A) c.281-1G>A (n.281-1G>A) c.535-1G>A (n.535-1G>A) | ClinVar dbSNP gnomAD v4 |