| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422270C>A | CA406012877 | BCKDHA | c.753C>A (p.Asn251Lys) c.687C>A (p.Asn229Lys) n.382C>A c.855C>A (p.Asn285Lys) c.666C>A (p.Asn222Lys) n.381C>A | |
| 19 | g.41422270C= | CA2336459036 | BCKDHA | c.753C= (p.Asn251=) c.687C= (p.Asn229=) n.382C= c.855C= (p.Asn285=) c.666C= (p.Asn222=) n.381C= | |
| 19 | g.41422270C>G | CA406012875 | BCKDHA | c.753C>G (p.Asn251Lys) c.687C>G (p.Asn229Lys) n.382C>G c.855C>G (p.Asn285Lys) c.666C>G (p.Asn222Lys) n.381C>G | dbSNP gnomAD v4 |
| 19 | g.41422270C>T | CA507690542 | BCKDHA | c.753C>T (p.Asn251=) c.687C>T (p.Asn229=) n.382C>T c.855C>T (p.Asn285=) c.666C>T (p.Asn222=) n.381C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41422271T>A | CA406012878 | BCKDHA | c.754T>A (p.Phe252Ile) c.688T>A (p.Phe230Ile) n.383T>A c.856T>A (p.Phe286Ile) c.667T>A (p.Phe223Ile) n.382T>A | |
| 19 | g.41422271T>C | CA406012879 | BCKDHA | c.754T>C (p.Phe252Leu) c.688T>C (p.Phe230Leu) n.383T>C c.856T>C (p.Phe286Leu) c.667T>C (p.Phe223Leu) n.382T>C | |
| 19 | g.41422271T>G | CA406012880 | BCKDHA | c.754T>G (p.Phe252Val) c.688T>G (p.Phe230Val) n.383T>G c.856T>G (p.Phe286Val) c.667T>G (p.Phe223Val) n.382T>G | |
| 19 | g.41422272T>A | CA406012881 | BCKDHA | c.755T>A (p.Phe252Tyr) c.689T>A (p.Phe230Tyr) n.384T>A c.857T>A (p.Phe286Tyr) c.668T>A (p.Phe223Tyr) n.383T>A | |
| 19 | g.41422272T>C | CA406012882 | BCKDHA | c.755T>C (p.Phe252Ser) c.689T>C (p.Phe230Ser) n.384T>C c.857T>C (p.Phe286Ser) c.668T>C (p.Phe223Ser) n.383T>C | |
| 19 | g.41422272T>G | CA406012883 | BCKDHA | c.755T>G (p.Phe252Cys) c.689T>G (p.Phe230Cys) n.384T>G c.857T>G (p.Phe286Cys) c.668T>G (p.Phe223Cys) n.383T>G | |
| 19 | g.41422272T= | CA2336459037 | BCKDHA | c.755T= (p.Phe252=) c.689T= (p.Phe230=) n.384T= c.857T= (p.Phe286=) c.668T= (p.Phe223=) n.383T= | |
| 19 | g.41422272_41422273insA | CA2336459038 | BCKDHA | c.755_756insA (p.Phe252LeufsTer6) c.689_690insA (p.Phe230LeufsTer6) n.384_385insA c.857_858insA (p.Phe286LeufsTer6) c.668_669insA (p.Phe223LeufsTer6) n.383_384insA | ClinVar dbSNP |
| 19 | g.41422273C>A | CA406012885 | BCKDHA | c.756C>A (p.Phe252Leu) c.690C>A (p.Phe230Leu) n.385C>A c.858C>A (p.Phe286Leu) c.669C>A (p.Phe223Leu) n.384C>A | |
| 19 | g.41422273C= | CA2336459039 | BCKDHA | c.756C= (p.Phe252=) c.690C= (p.Phe230=) n.385C= c.858C= (p.Phe286=) c.669C= (p.Phe223=) n.384C= | |
| 19 | g.41422273C>G | CA406012884 | BCKDHA | c.756C>G (p.Phe252Leu) c.690C>G (p.Phe230Leu) n.385C>G c.858C>G (p.Phe286Leu) c.669C>G (p.Phe223Leu) n.384C>G | gnomAD v4 |
| 19 | g.41422273C>T | CA9461254 | BCKDHA | c.756C>T (p.Phe252=) c.690C>T (p.Phe230=) n.385C>T c.858C>T (p.Phe286=) c.669C>T (p.Phe223=) n.384C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.41422274G>A | CA9461255 | BCKDHA | c.757G>A (p.Ala253Thr) c.691G>A (p.Ala231Thr) n.386G>A c.859G>A (p.Ala287Thr) c.670G>A (p.Ala224Thr) n.385G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422274G>C | CA406012886 | BCKDHA | c.757G>C (p.Ala253Pro) c.691G>C (p.Ala231Pro) n.386G>C c.859G>C (p.Ala287Pro) c.670G>C (p.Ala224Pro) n.385G>C | |
| 19 | g.41422274G= | CA2336459040 | BCKDHA | c.757G= (p.Ala253=) c.691G= (p.Ala231=) n.386G= c.859G= (p.Ala287=) c.670G= (p.Ala224=) n.385G= | |
| 19 | g.41422274G>T | CA406012887 | BCKDHA | c.757G>T (p.Ala253Ser) c.691G>T (p.Ala231Ser) n.386G>T c.859G>T (p.Ala287Ser) c.670G>T (p.Ala224Ser) n.385G>T | COSMIC |
| 19 | g.41422275C>A | CA406012888 | BCKDHA | c.758C>A (p.Ala253Asp) c.692C>A (p.Ala231Asp) n.387C>A c.860C>A (p.Ala287Asp) c.671C>A (p.Ala224Asp) n.386C>A | |
| 19 | g.41422275C= | CA2336459041 | BCKDHA | c.758C= (p.Ala253=) c.692C= (p.Ala231=) n.387C= c.860C= (p.Ala287=) c.671C= (p.Ala224=) n.386C= | |
| 19 | g.41422275C>G | CA406012889 | BCKDHA | c.758C>G (p.Ala253Gly) c.692C>G (p.Ala231Gly) n.387C>G c.860C>G (p.Ala287Gly) c.671C>G (p.Ala224Gly) n.386C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41422275C>T | CA406012890 | BCKDHA | c.758C>T (p.Ala253Val) c.692C>T (p.Ala231Val) n.387C>T c.860C>T (p.Ala287Val) c.671C>T (p.Ala224Val) n.386C>T | |
| 19 | g.41422276T>A | CA507690554 | BCKDHA | c.759T>A (p.Ala253=) c.693T>A (p.Ala231=) n.388T>A c.861T>A (p.Ala287=) c.672T>A (p.Ala224=) n.387T>A | |
| 19 | g.41422276T>C | CA507690556 | BCKDHA | c.759T>C (p.Ala253=) c.693T>C (p.Ala231=) n.388T>C c.861T>C (p.Ala287=) c.672T>C (p.Ala224=) n.387T>C | |
| 19 | g.41422276T>G | CA507690555 | BCKDHA | c.759T>G (p.Ala253=) c.693T>G (p.Ala231=) n.388T>G c.861T>G (p.Ala287=) c.672T>G (p.Ala224=) n.387T>G | |
| 19 | g.41422277G>A | CA406012891 | BCKDHA | c.760G>A (p.Ala254Thr) c.694G>A (p.Ala232Thr) n.389G>A c.862G>A (p.Ala288Thr) c.673G>A (p.Ala225Thr) n.388G>A | |
| 19 | g.41422277G>C | CA406012892 | BCKDHA | c.760G>C (p.Ala254Pro) c.694G>C (p.Ala232Pro) n.389G>C c.862G>C (p.Ala288Pro) c.673G>C (p.Ala225Pro) n.388G>C | |
| 19 | g.41422277G>T | CA406012893 | BCKDHA | c.760G>T (p.Ala254Ser) c.694G>T (p.Ala232Ser) n.389G>T c.862G>T (p.Ala288Ser) c.673G>T (p.Ala225Ser) n.388G>T | |
| 19 | g.41422278C>A | CA221213 | BCKDHA | c.761C>A (p.Ala254Asp) c.695C>A (p.Ala232Asp) n.390C>A c.863C>A (p.Ala288Asp) c.674C>A (p.Ala225Asp) n.389C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41422278C= | CA2336459042 | BCKDHA | c.761C= (p.Ala254=) c.695C= (p.Ala232=) n.390C= c.863C= (p.Ala288=) c.674C= (p.Ala225=) n.389C= | |
| 19 | g.41422278C>G | CA406012894 | BCKDHA | c.761C>G (p.Ala254Gly) c.695C>G (p.Ala232Gly) n.390C>G c.863C>G (p.Ala288Gly) c.674C>G (p.Ala225Gly) n.389C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41422278C>T | CA406012895 | BCKDHA | c.761C>T (p.Ala254Val) c.695C>T (p.Ala232Val) n.390C>T c.863C>T (p.Ala288Val) c.674C>T (p.Ala225Val) n.389C>T | |
| 19 | g.41422279C>A | CA507690557 | BCKDHA | c.762C>A (p.Ala254=) c.696C>A (p.Ala232=) n.391C>A c.864C>A (p.Ala288=) c.675C>A (p.Ala225=) n.390C>A | |
| 19 | g.41422279C= | CA2336459043 | BCKDHA | c.762C= (p.Ala254=) c.696C= (p.Ala232=) n.391C= c.864C= (p.Ala288=) c.675C= (p.Ala225=) n.390C= | |
| 19 | g.41422279C>G | CA507690558 | BCKDHA | c.762C>G (p.Ala254=) c.696C>G (p.Ala232=) n.391C>G c.864C>G (p.Ala288=) c.675C>G (p.Ala225=) n.390C>G | |
| 19 | g.41422279C>T | CA507690559 | BCKDHA | c.762C>T (p.Ala254=) c.696C>T (p.Ala232=) n.391C>T c.864C>T (p.Ala288=) c.675C>T (p.Ala225=) n.390C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422280A>C | CA406012896 | BCKDHA | c.763A>C (p.Thr255Pro) c.697A>C (p.Thr233Pro) n.392A>C c.865A>C (p.Thr289Pro) c.676A>C (p.Thr226Pro) n.391A>C | |
| 19 | g.41422280A>G | CA406012898 | BCKDHA | c.763A>G (p.Thr255Ala) c.697A>G (p.Thr233Ala) n.392A>G c.865A>G (p.Thr289Ala) c.676A>G (p.Thr226Ala) n.391A>G | |
| 19 | g.41422280A>T | CA406012897 | BCKDHA | c.763A>T (p.Thr255Ser) c.697A>T (p.Thr233Ser) n.392A>T c.865A>T (p.Thr289Ser) c.676A>T (p.Thr226Ser) n.391A>T | gnomAD v4 |
| 19 | g.41422281C>A | CA406012899 | BCKDHA | c.764C>A (p.Thr255Lys) c.698C>A (p.Thr233Lys) n.393C>A c.866C>A (p.Thr289Lys) c.677C>A (p.Thr226Lys) n.392C>A | |
| 19 | g.41422281C>G | CA406012900 | BCKDHA | c.764C>G (p.Thr255Arg) c.698C>G (p.Thr233Arg) n.393C>G c.866C>G (p.Thr289Arg) c.677C>G (p.Thr226Arg) n.392C>G | |
| 19 | g.41422281C>T | CA406012901 | BCKDHA | c.764C>T (p.Thr255Ile) c.698C>T (p.Thr233Ile) n.393C>T c.866C>T (p.Thr289Ile) c.677C>T (p.Thr226Ile) n.392C>T | gnomAD v4 |
| 19 | g.41422282A= | CA2336459044 | BCKDHA | c.765A= (p.Thr255=) c.699A= (p.Thr233=) n.394A= c.867A= (p.Thr289=) c.678A= (p.Thr226=) n.393A= | |
| 19 | g.41422282A>C | CA507690565 | BCKDHA | c.765A>C (p.Thr255=) c.699A>C (p.Thr233=) n.394A>C c.867A>C (p.Thr289=) c.678A>C (p.Thr226=) n.393A>C | |
| 19 | g.41422282A>G | CA507690566 | BCKDHA | c.765A>G (p.Thr255=) c.699A>G (p.Thr233=) n.394A>G c.867A>G (p.Thr289=) c.678A>G (p.Thr226=) n.393A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41422282A>T | CA507690568 | BCKDHA | c.765A>T (p.Thr255=) c.699A>T (p.Thr233=) n.394A>T c.867A>T (p.Thr289=) c.678A>T (p.Thr226=) n.393A>T | |
| 19 | g.41422283C>A | CA406012902 | BCKDHA | c.766C>A (p.Leu256Ile) c.700C>A (p.Leu234Ile) n.395C>A c.868C>A (p.Leu290Ile) c.679C>A (p.Leu227Ile) n.394C>A | |
| 19 | g.41422283C>G | CA406012903 | BCKDHA | c.766C>G (p.Leu256Val) c.700C>G (p.Leu234Val) n.395C>G c.868C>G (p.Leu290Val) c.679C>G (p.Leu227Val) n.394C>G |