| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422259G>A | CA406012853 | BCKDHA | c.742G>A (p.Ala248Thr) c.676G>A (p.Ala226Thr) n.371G>A c.844G>A (p.Ala282Thr) c.655G>A (p.Ala219Thr) n.370G>A | |
| 19 | g.41422259G>C | CA406012855 | BCKDHA | c.742G>C (p.Ala248Pro) c.676G>C (p.Ala226Pro) n.371G>C c.844G>C (p.Ala282Pro) c.655G>C (p.Ala219Pro) n.370G>C | |
| 19 | g.41422259G>T | CA406012854 | BCKDHA | c.742G>T (p.Ala248Ser) c.676G>T (p.Ala226Ser) n.371G>T c.844G>T (p.Ala282Ser) c.655G>T (p.Ala219Ser) n.370G>T | |
| 19 | g.41422260C>A | CA406012856 | BCKDHA | c.743C>A (p.Ala248Asp) c.677C>A (p.Ala226Asp) n.372C>A c.845C>A (p.Ala282Asp) c.656C>A (p.Ala219Asp) n.371C>A | |
| 19 | g.41422260C= | CA2336459030 | BCKDHA | c.743C= (p.Ala248=) c.677C= (p.Ala226=) n.372C= c.845C= (p.Ala282=) c.656C= (p.Ala219=) n.371C= | |
| 19 | g.41422260C>G | CA406012857 | BCKDHA | c.743C>G (p.Ala248Gly) c.677C>G (p.Ala226Gly) n.372C>G c.845C>G (p.Ala282Gly) c.656C>G (p.Ala219Gly) n.371C>G | |
| 19 | g.41422260C>T | CA308524255 | BCKDHA | c.743C>T (p.Ala248Val) c.677C>T (p.Ala226Val) n.372C>T c.845C>T (p.Ala282Val) c.656C>T (p.Ala219Val) n.371C>T | ClinVar dbSNP |
| 19 | g.41422261C>A | CA507690525 | BCKDHA | c.744C>A (p.Ala248=) c.678C>A (p.Ala226=) n.373C>A c.846C>A (p.Ala282=) c.657C>A (p.Ala219=) n.372C>A | dbSNP gnomAD v4 |
| 19 | g.41422261C= | CA2336459031 | BCKDHA | c.744C= (p.Ala248=) c.678C= (p.Ala226=) n.373C= c.846C= (p.Ala282=) c.657C= (p.Ala219=) n.372C= | |
| 19 | g.41422261C>G | CA507690527 | BCKDHA | c.744C>G (p.Ala248=) c.678C>G (p.Ala226=) n.373C>G c.846C>G (p.Ala282=) c.657C>G (p.Ala219=) n.372C>G | gnomAD v4 |
| 19 | g.41422261C>T | CA9461252 | BCKDHA | c.744C>T (p.Ala248=) c.678C>T (p.Ala226=) n.373C>T c.846C>T (p.Ala282=) c.657C>T (p.Ala219=) n.372C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422262G>A | CA115515 | BCKDHA | c.745G>A (p.Gly249Ser) c.679G>A (p.Gly227Ser) n.374G>A c.847G>A (p.Gly283Ser) c.658G>A (p.Gly220Ser) n.373G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422262G>C | CA406012859 | BCKDHA | c.745G>C (p.Gly249Arg) c.679G>C (p.Gly227Arg) n.374G>C c.847G>C (p.Gly283Arg) c.658G>C (p.Gly220Arg) n.373G>C | |
| 19 | g.41422262G= | CA2336459032 | BCKDHA | c.745G= (p.Gly249=) c.679G= (p.Gly227=) n.374G= c.847G= (p.Gly283=) c.658G= (p.Gly220=) n.373G= | |
| 19 | g.41422262G>T | CA406012858 | BCKDHA | c.745G>T (p.Gly249Cys) c.679G>T (p.Gly227Cys) n.374G>T c.847G>T (p.Gly283Cys) c.658G>T (p.Gly220Cys) n.373G>T | ClinVar dbSNP |
| 19 | g.41422263G>A | CA406012860 | BCKDHA | c.746G>A (p.Gly249Asp) c.680G>A (p.Gly227Asp) n.375G>A c.848G>A (p.Gly283Asp) c.659G>A (p.Gly220Asp) n.374G>A | |
| 19 | g.41422263G>C | CA312362 | BCKDHA | c.746G>C (p.Gly249Ala) c.680G>C (p.Gly227Ala) n.375G>C c.848G>C (p.Gly283Ala) c.659G>C (p.Gly220Ala) n.374G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422263G= | CA2336459033 | BCKDHA | c.746G= (p.Gly249=) c.680G= (p.Gly227=) n.375G= c.848G= (p.Gly283=) c.659G= (p.Gly220=) n.374G= | |
| 19 | g.41422263G>T | CA406012861 | BCKDHA | c.746G>T (p.Gly249Val) c.680G>T (p.Gly227Val) n.375G>T c.848G>T (p.Gly283Val) c.659G>T (p.Gly220Val) n.374G>T | ClinVar |
| 19 | g.41422263_41422264del | CA2695198206 | BCKDHA | c.746_747del (p.Gly249ValfsTer8) c.680_681del (p.Gly227ValfsTer8) n.375_376del c.848_849del (p.Gly283ValfsTer8) c.659_660del (p.Gly220ValfsTer8) n.374_375del | ClinVar |
| 19 | g.41422264C>A | CA507690530 | BCKDHA | c.747C>A (p.Gly249=) c.681C>A (p.Gly227=) n.376C>A c.849C>A (p.Gly283=) c.660C>A (p.Gly220=) n.375C>A | |
| 19 | g.41422264C>G | CA507690531 | BCKDHA | c.747C>G (p.Gly249=) c.681C>G (p.Gly227=) n.376C>G c.849C>G (p.Gly283=) c.660C>G (p.Gly220=) n.375C>G | |
| 19 | g.41422264C>T | CA507690529 | BCKDHA | c.747C>T (p.Gly249=) c.681C>T (p.Gly227=) n.376C>T c.849C>T (p.Gly283=) c.660C>T (p.Gly220=) n.375C>T | |
| 19 | g.41422265T>A | CA406012862 | BCKDHA | c.748T>A (p.Phe250Ile) c.682T>A (p.Phe228Ile) n.377T>A c.850T>A (p.Phe284Ile) c.661T>A (p.Phe221Ile) n.376T>A | |
| 19 | g.41422265T>C | CA406012864 | BCKDHA | c.748T>C (p.Phe250Leu) c.682T>C (p.Phe228Leu) n.377T>C c.850T>C (p.Phe284Leu) c.661T>C (p.Phe221Leu) n.376T>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41422265T>G | CA406012863 | BCKDHA | c.748T>G (p.Phe250Val) c.682T>G (p.Phe228Val) n.377T>G c.850T>G (p.Phe284Val) c.661T>G (p.Phe221Val) n.376T>G | |
| 19 | g.41422265T= | CA2336459034 | BCKDHA | c.748T= (p.Phe250=) c.682T= (p.Phe228=) n.377T= c.850T= (p.Phe284=) c.661T= (p.Phe221=) n.376T= | |
| 19 | g.41422266T>A | CA406012865 | BCKDHA | c.749T>A (p.Phe250Tyr) c.683T>A (p.Phe228Tyr) n.378T>A c.851T>A (p.Phe284Tyr) c.662T>A (p.Phe221Tyr) n.377T>A | |
| 19 | g.41422266T>C | CA406012867 | BCKDHA | c.749T>C (p.Phe250Ser) c.683T>C (p.Phe228Ser) n.378T>C c.851T>C (p.Phe284Ser) c.662T>C (p.Phe221Ser) n.377T>C | |
| 19 | g.41422266T>G | CA406012866 | BCKDHA | c.749T>G (p.Phe250Cys) c.683T>G (p.Phe228Cys) n.378T>G c.851T>G (p.Phe284Cys) c.662T>G (p.Phe221Cys) n.377T>G | |
| 19 | g.41422267C>A | CA406012868 | BCKDHA | c.750C>A (p.Phe250Leu) c.684C>A (p.Phe228Leu) n.379C>A c.852C>A (p.Phe284Leu) c.663C>A (p.Phe221Leu) n.378C>A | COSMIC |
| 19 | g.41422267C>G | CA406012869 | BCKDHA | c.750C>G (p.Phe250Leu) c.684C>G (p.Phe228Leu) n.379C>G c.852C>G (p.Phe284Leu) c.663C>G (p.Phe221Leu) n.378C>G | |
| 19 | g.41422267C>T | CA507690535 | BCKDHA | c.750C>T (p.Phe250=) c.684C>T (p.Phe228=) n.379C>T c.852C>T (p.Phe284=) c.663C>T (p.Phe221=) n.378C>T | |
| 19 | g.41422268A>C | CA406012870 | BCKDHA | c.751A>C (p.Asn251His) c.685A>C (p.Asn229His) n.380A>C c.853A>C (p.Asn285His) c.664A>C (p.Asn222His) n.379A>C | |
| 19 | g.41422268A>G | CA406012871 | BCKDHA | c.751A>G (p.Asn251Asp) c.685A>G (p.Asn229Asp) n.380A>G c.853A>G (p.Asn285Asp) c.664A>G (p.Asn222Asp) n.379A>G | gnomAD v4 |
| 19 | g.41422268A>T | CA406012872 | BCKDHA | c.751A>T (p.Asn251Tyr) c.685A>T (p.Asn229Tyr) n.380A>T c.853A>T (p.Asn285Tyr) c.664A>T (p.Asn222Tyr) n.379A>T | |
| 19 | g.41422269A= | CA2336459035 | BCKDHA | c.752A= (p.Asn251=) c.686A= (p.Asn229=) n.381A= c.854A= (p.Asn285=) c.665A= (p.Asn222=) n.380A= | |
| 19 | g.41422269A>C | CA406012873 | BCKDHA | c.752A>C (p.Asn251Thr) c.686A>C (p.Asn229Thr) n.381A>C c.854A>C (p.Asn285Thr) c.665A>C (p.Asn222Thr) n.380A>C | |
| 19 | g.41422269A>G | CA9461253 | BCKDHA | c.752A>G (p.Asn251Ser) c.686A>G (p.Asn229Ser) n.381A>G c.854A>G (p.Asn285Ser) c.665A>G (p.Asn222Ser) n.380A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41422269A>T | CA406012874 | BCKDHA | c.752A>T (p.Asn251Ile) c.686A>T (p.Asn229Ile) n.381A>T c.854A>T (p.Asn285Ile) c.665A>T (p.Asn222Ile) n.380A>T | |
| 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 |