| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422633_41422641delinsACGAGGCCC | CA2336459201 | BCKDHA | c.858_866delinsACGAGGCCC (p.Ala286=) c.792_800delinsACGAGGCCC (p.Ala264=) n.487_495delinsACGAGGCCC c.960_968delinsACGAGGCCC (p.Ala320=) c.771_779delinsACGAGGCCC (p.Ala257=) n.486_494delinsACGAGGCCC c.855_863delinsACGAGGCCC (p.Ala285=) | |
| 19 | g.41422636_41422643del | CA275390 | BCKDHA | c.861_868del (p.Gly288ValfsTer11) c.795_802del (p.Gly266ValfsTer11) n.490_497del c.963_970del (p.Gly322ValfsTer11) c.774_781del (p.Gly259ValfsTer11) n.489_496del c.858_865del (p.Gly287ValfsTer11) | ClinVar dbSNP gnomAD v4 |
| 19 | g.41422636A>C | CA507690609 | BCKDHA | c.861A>C (p.Arg287=) c.795A>C (p.Arg265=) n.490A>C c.963A>C (p.Arg321=) c.774A>C (p.Arg258=) n.489A>C c.858A>C (p.Arg286=) | |
| 19 | g.41422636A>G | CA507690611 | BCKDHA | c.861A>G (p.Arg287=) c.795A>G (p.Arg265=) n.490A>G c.963A>G (p.Arg321=) c.774A>G (p.Arg258=) n.489A>G c.858A>G (p.Arg286=) | |
| 19 | g.41422636A>T | CA507690613 | BCKDHA | c.861A>T (p.Arg287=) c.795A>T (p.Arg265=) n.490A>T c.963A>T (p.Arg321=) c.774A>T (p.Arg258=) n.489A>T c.858A>T (p.Arg286=) | |
| 19 | g.41422637G>A | CA406013212 | BCKDHA | c.862G>A (p.Gly288Ser) c.796G>A (p.Gly266Ser) n.491G>A c.964G>A (p.Gly322Ser) c.775G>A (p.Gly259Ser) n.490G>A c.859G>A (p.Gly287Ser) | |
| 19 | g.41422637G>C | CA406013214 | BCKDHA | c.862G>C (p.Gly288Arg) c.796G>C (p.Gly266Arg) n.491G>C c.964G>C (p.Gly322Arg) c.775G>C (p.Gly259Arg) n.490G>C c.859G>C (p.Gly287Arg) | |
| 19 | g.41422637G>T | CA406013210 | BCKDHA | c.862G>T (p.Gly288Cys) c.796G>T (p.Gly266Cys) n.491G>T c.964G>T (p.Gly322Cys) c.775G>T (p.Gly259Cys) n.490G>T c.859G>T (p.Gly287Cys) | |
| 19 | g.41422638G>A | CA406013220 | BCKDHA | c.863G>A (p.Gly288Asp) c.797G>A (p.Gly266Asp) n.492G>A c.965G>A (p.Gly322Asp) c.776G>A (p.Gly259Asp) n.491G>A c.860G>A (p.Gly287Asp) | |
| 19 | g.41422638G>C | CA406013216 | BCKDHA | c.863G>C (p.Gly288Ala) c.797G>C (p.Gly266Ala) n.492G>C c.965G>C (p.Gly322Ala) c.776G>C (p.Gly259Ala) n.491G>C c.860G>C (p.Gly287Ala) | |
| 19 | g.41422638G>T | CA406013218 | BCKDHA | c.863G>T (p.Gly288Val) c.797G>T (p.Gly266Val) n.492G>T c.965G>T (p.Gly322Val) c.776G>T (p.Gly259Val) n.491G>T c.860G>T (p.Gly287Val) | |
| 19 | g.41422639C>A | CA507690617 | BCKDHA | c.864C>A (p.Gly288=) c.798C>A (p.Gly266=) n.493C>A c.966C>A (p.Gly322=) c.777C>A (p.Gly259=) n.492C>A c.861C>A (p.Gly287=) | |
| 19 | g.41422639C>G | CA507690618 | BCKDHA | c.864C>G (p.Gly288=) c.798C>G (p.Gly266=) n.493C>G c.966C>G (p.Gly322=) c.777C>G (p.Gly259=) n.492C>G c.861C>G (p.Gly287=) | |
| 19 | g.41422639C>T | CA507690619 | BCKDHA | c.864C>T (p.Gly288=) c.798C>T (p.Gly266=) n.493C>T c.966C>T (p.Gly322=) c.777C>T (p.Gly259=) n.492C>T c.861C>T (p.Gly287=) | |
| 19 | g.41422640C>A | CA406013223 | BCKDHA | c.865C>A (p.Pro289Thr) c.799C>A (p.Pro267Thr) n.494C>A c.967C>A (p.Pro323Thr) c.778C>A (p.Pro260Thr) n.493C>A c.862C>A (p.Pro288Thr) | |
| 19 | g.41422640C>G | CA406013225 | BCKDHA | c.865C>G (p.Pro289Ala) c.799C>G (p.Pro267Ala) n.494C>G c.967C>G (p.Pro323Ala) c.778C>G (p.Pro260Ala) n.493C>G c.862C>G (p.Pro288Ala) | |
| 19 | g.41422640C>T | CA406013227 | BCKDHA | c.865C>T (p.Pro289Ser) c.799C>T (p.Pro267Ser) n.494C>T c.967C>T (p.Pro323Ser) c.778C>T (p.Pro260Ser) n.493C>T c.862C>T (p.Pro288Ser) | |
| 19 | g.41422641C>A | CA406013229 | BCKDHA | c.866C>A (p.Pro289His) c.800C>A (p.Pro267His) n.495C>A c.968C>A (p.Pro323His) c.779C>A (p.Pro260His) n.494C>A c.863C>A (p.Pro288His) | |
| 19 | g.41422641C>G | CA406013231 | BCKDHA | c.866C>G (p.Pro289Arg) c.800C>G (p.Pro267Arg) n.495C>G c.968C>G (p.Pro323Arg) c.779C>G (p.Pro260Arg) n.494C>G c.863C>G (p.Pro288Arg) | |
| 19 | g.41422641C>T | CA406013235 | BCKDHA | c.866C>T (p.Pro289Leu) c.800C>T (p.Pro267Leu) n.495C>T c.968C>T (p.Pro323Leu) c.779C>T (p.Pro260Leu) n.494C>T c.863C>T (p.Pro288Leu) | |
| 19 | g.41422642C>A | CA507690678 | BCKDHA | c.867C>A (p.Pro289=) c.801C>A (p.Pro267=) n.496C>A c.969C>A (p.Pro323=) c.780C>A (p.Pro260=) n.495C>A c.864C>A (p.Pro288=) | |
| 19 | g.41422642C= | CA2336459204 | BCKDHA | c.867C= (p.Pro289=) c.801C= (p.Pro267=) n.496C= c.969C= (p.Pro323=) c.780C= (p.Pro260=) n.495C= c.864C= (p.Pro288=) | |
| 19 | g.41422642C>G | CA507690680 | BCKDHA | c.867C>G (p.Pro289=) c.801C>G (p.Pro267=) n.496C>G c.969C>G (p.Pro323=) c.780C>G (p.Pro260=) n.495C>G c.864C>G (p.Pro288=) | |
| 19 | g.41422642C>T | CA9461292 | BCKDHA | c.867C>T (p.Pro289=) c.801C>T (p.Pro267=) n.496C>T c.969C>T (p.Pro323=) c.780C>T (p.Pro260=) n.495C>T c.864C>T (p.Pro288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41422643G>A | CA115508 | BCKDHA | c.868G>A (p.Gly290Arg) c.802G>A (p.Gly268Arg) n.497G>A c.970G>A (p.Gly324Arg) c.781G>A (p.Gly261Arg) n.496G>A c.865G>A (p.Gly289Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422643G>C | CA9461293 | BCKDHA | c.868G>C (p.Gly290Arg) c.802G>C (p.Gly268Arg) n.497G>C c.970G>C (p.Gly324Arg) c.781G>C (p.Gly261Arg) n.496G>C c.865G>C (p.Gly289Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41422643G= | CA2336459205 | BCKDHA | c.868G= (p.Gly290=) c.802G= (p.Gly268=) n.497G= c.970G= (p.Gly324=) c.781G= (p.Gly261=) n.496G= c.865G= (p.Gly289=) | |
| 19 | g.41422643G>T | CA406013241 | BCKDHA | c.868G>T (p.Gly290Trp) c.802G>T (p.Gly268Trp) n.497G>T c.970G>T (p.Gly324Trp) c.781G>T (p.Gly261Trp) n.496G>T c.865G>T (p.Gly289Trp) | |
| 19 | g.41422644G>A | CA406013247 | BCKDHA | c.869G>A (p.Gly290Glu) c.803G>A (p.Gly268Glu) n.498G>A c.971G>A (p.Gly324Glu) c.782G>A (p.Gly261Glu) n.497G>A c.866G>A (p.Gly289Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41422644G>C | CA406013246 | BCKDHA | c.869G>C (p.Gly290Ala) c.803G>C (p.Gly268Ala) n.498G>C c.971G>C (p.Gly324Ala) c.782G>C (p.Gly261Ala) n.497G>C c.866G>C (p.Gly289Ala) | |
| 19 | g.41422644G= | CA2336459206 | BCKDHA | c.869G= (p.Gly290=) c.803G= (p.Gly268=) n.498G= c.971G= (p.Gly324=) c.782G= (p.Gly261=) n.497G= c.866G= (p.Gly289=) | |
| 19 | g.41422644G>T | CA406013244 | BCKDHA | c.869G>T (p.Gly290Val) c.803G>T (p.Gly268Val) n.498G>T c.971G>T (p.Gly324Val) c.782G>T (p.Gly261Val) n.497G>T c.866G>T (p.Gly289Val) | |
| 19 | g.41422645G>A | CA507690686 | BCKDHA | c.870G>A (p.Gly290=) c.804G>A (p.Gly268=) n.499G>A c.972G>A (p.Gly324=) c.783G>A (p.Gly261=) n.498G>A c.867G>A (p.Gly289=) | |
| 19 | g.41422645G>C | CA507690685 | BCKDHA | c.870G>C (p.Gly290=) c.804G>C (p.Gly268=) n.499G>C c.972G>C (p.Gly324=) c.783G>C (p.Gly261=) n.498G>C c.867G>C (p.Gly289=) | |
| 19 | g.41422645G>T | CA507690684 | BCKDHA | c.870G>T (p.Gly290=) c.804G>T (p.Gly268=) n.499G>T c.972G>T (p.Gly324=) c.783G>T (p.Gly261=) n.498G>T c.867G>T (p.Gly289=) | |
| 19 | g.41422646T>A | CA406013250 | BCKDHA | c.871T>A (p.Tyr291Asn) c.805T>A (p.Tyr269Asn) n.500T>A c.973T>A (p.Tyr325Asn) c.784T>A (p.Tyr262Asn) n.499T>A c.868T>A (p.Tyr290Asn) | |
| 19 | g.41422646T>C | CA406013252 | BCKDHA | c.871T>C (p.Tyr291His) c.805T>C (p.Tyr269His) n.500T>C c.973T>C (p.Tyr325His) c.784T>C (p.Tyr262His) n.499T>C c.868T>C (p.Tyr290His) | dbSNP |
| 19 | g.41422646T>G | CA406013254 | BCKDHA | c.871T>G (p.Tyr291Asp) c.805T>G (p.Tyr269Asp) n.500T>G c.973T>G (p.Tyr325Asp) c.784T>G (p.Tyr262Asp) n.499T>G c.868T>G (p.Tyr290Asp) | |
| 19 | g.41422647A= | CA2336459207 | BCKDHA | c.872A= (p.Tyr291=) c.806A= (p.Tyr269=) n.501A= c.974A= (p.Tyr325=) c.785A= (p.Tyr262=) n.500A= c.869A= (p.Tyr290=) | |
| 19 | g.41422647A>C | CA406013257 | BCKDHA | c.872A>C (p.Tyr291Ser) c.806A>C (p.Tyr269Ser) n.501A>C c.974A>C (p.Tyr325Ser) c.785A>C (p.Tyr262Ser) n.500A>C c.869A>C (p.Tyr290Ser) | |
| 19 | g.41422647A>G | CA406013259 | BCKDHA | c.872A>G (p.Tyr291Cys) c.806A>G (p.Tyr269Cys) n.501A>G c.974A>G (p.Tyr325Cys) c.785A>G (p.Tyr262Cys) n.500A>G c.869A>G (p.Tyr290Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41422647A>T | CA406013261 | BCKDHA | c.872A>T (p.Tyr291Phe) c.806A>T (p.Tyr269Phe) n.501A>T c.974A>T (p.Tyr325Phe) c.785A>T (p.Tyr262Phe) n.500A>T c.869A>T (p.Tyr290Phe) | |
| 19 | g.41422648T>A | CA406013263 | BCKDHA | c.873T>A (p.Tyr291Ter) c.807T>A (p.Tyr269Ter) n.502T>A c.975T>A (p.Tyr325Ter) c.786T>A (p.Tyr262Ter) n.501T>A c.870T>A (p.Tyr290Ter) | |
| 19 | g.41422648T>C | CA308524731 | BCKDHA | c.873T>C (p.Tyr291=) c.807T>C (p.Tyr269=) n.502T>C c.975T>C (p.Tyr325=) c.786T>C (p.Tyr262=) n.501T>C c.870T>C (p.Tyr290=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41422648T>G | CA406013267 | BCKDHA | c.873T>G (p.Tyr291Ter) c.807T>G (p.Tyr269Ter) n.502T>G c.975T>G (p.Tyr325Ter) c.786T>G (p.Tyr262Ter) n.501T>G c.870T>G (p.Tyr290Ter) | |
| 19 | g.41422648T= | CA2336459208 | BCKDHA | c.873T= (p.Tyr291=) c.807T= (p.Tyr269=) n.502T= c.975T= (p.Tyr325=) c.786T= (p.Tyr262=) n.501T= c.870T= (p.Tyr290=) | |
| 19 | g.41422649G>A | CA406013270 | BCKDHA | c.874G>A (p.Gly292Ser) c.808G>A (p.Gly270Ser) n.503G>A c.976G>A (p.Gly326Ser) c.787G>A (p.Gly263Ser) n.502G>A c.871G>A (p.Gly291Ser) | |
| 19 | g.41422649G>C | CA406013272 | BCKDHA | c.874G>C (p.Gly292Arg) c.808G>C (p.Gly270Arg) n.503G>C c.976G>C (p.Gly326Arg) c.787G>C (p.Gly263Arg) n.502G>C c.871G>C (p.Gly291Arg) | gnomAD v4 |
| 19 | g.41422649G>T | CA406013277 | BCKDHA | c.874G>T (p.Gly292Cys) c.808G>T (p.Gly270Cys) n.503G>T c.976G>T (p.Gly326Cys) c.787G>T (p.Gly263Cys) n.502G>T c.871G>T (p.Gly291Cys) | |
| 19 | g.41422650G>A | CA406013284 | BCKDHA | c.875G>A (p.Gly292Asp) c.809G>A (p.Gly270Asp) n.504G>A c.977G>A (p.Gly326Asp) c.788G>A (p.Gly263Asp) n.503G>A c.872G>A (p.Gly291Asp) |