Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41422633A>C | CA507690602 | BCKDHA | c.858A>C (p.Ala286=) c.792A>C (p.Ala264=) n.487A>C c.960A>C (p.Ala320=) c.771A>C (p.Ala257=) n.486A>C c.855A>C (p.Ala285=) | |
19 | g.41422633A>G | CA507690604 | BCKDHA | c.858A>G (p.Ala286=) c.792A>G (p.Ala264=) n.487A>G c.960A>G (p.Ala320=) c.771A>G (p.Ala257=) n.486A>G c.855A>G (p.Ala285=) | |
19 | g.41422633A>T | CA507690605 | BCKDHA | c.858A>T (p.Ala286=) c.792A>T (p.Ala264=) n.487A>T c.960A>T (p.Ala320=) c.771A>T (p.Ala257=) n.486A>T c.855A>T (p.Ala285=) | |
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.41422634C>A | CA507690606 | BCKDHA | c.859C>A (p.Arg287=) c.793C>A (p.Arg265=) n.488C>A c.961C>A (p.Arg321=) c.772C>A (p.Arg258=) n.487C>A c.856C>A (p.Arg286=) | |
19 | g.41422634C= | CA2336459202 | BCKDHA | c.859C= (p.Arg287=) c.793C= (p.Arg265=) n.488C= c.961C= (p.Arg321=) c.772C= (p.Arg258=) n.487C= c.856C= (p.Arg286=) | |
19 | g.41422634C>G | CA9461289 | BCKDHA | c.859C>G (p.Arg287Gly) c.793C>G (p.Arg265Gly) n.488C>G c.961C>G (p.Arg321Gly) c.772C>G (p.Arg258Gly) n.487C>G c.856C>G (p.Arg286Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422634C>T | CA9461290 | BCKDHA | c.859C>T (p.Arg287Ter) c.793C>T (p.Arg265Ter) n.488C>T c.961C>T (p.Arg321Ter) c.772C>T (p.Arg258Ter) n.487C>T c.856C>T (p.Arg286Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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.41422635G>A | CA9461291 | BCKDHA | c.860G>A (p.Arg287Gln) c.794G>A (p.Arg265Gln) n.489G>A c.962G>A (p.Arg321Gln) c.773G>A (p.Arg258Gln) n.488G>A c.857G>A (p.Arg286Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422635G>C | CA406013204 | BCKDHA | c.860G>C (p.Arg287Pro) c.794G>C (p.Arg265Pro) n.489G>C c.962G>C (p.Arg321Pro) c.773G>C (p.Arg258Pro) n.488G>C c.857G>C (p.Arg286Pro) | |
19 | g.41422635G= | CA2336459203 | BCKDHA | c.860G= (p.Arg287=) c.794G= (p.Arg265=) n.489G= c.962G= (p.Arg321=) c.773G= (p.Arg258=) n.488G= c.857G= (p.Arg286=) | |
19 | g.41422635G>T | CA406013206 | BCKDHA | c.860G>T (p.Arg287Leu) c.794G>T (p.Arg265Leu) n.489G>T c.962G>T (p.Arg321Leu) c.773G>T (p.Arg258Leu) n.488G>T c.857G>T (p.Arg286Leu) | |
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.41422642del | CA2841673852 | BCKDHA | c.867del (p.Tyr291MetfsTer?) c.801del (p.Tyr269MetfsTer?) n.496del c.969del (p.Tyr325MetfsTer?) c.780del (p.Tyr262MetfsTer?) n.495del c.864del (p.Tyr290MetfsTer?) | |
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.41422645del | CA2841673853 | BCKDHA | c.870del (p.Tyr291MetfsTer?) c.804del (p.Tyr269MetfsTer?) n.499del c.972del (p.Tyr325MetfsTer?) c.783del (p.Tyr262MetfsTer?) n.498del c.867del (p.Tyr290MetfsTer?) | |
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) | |
19 | g.41422650G>C | CA406013282 | BCKDHA | c.875G>C (p.Gly292Ala) c.809G>C (p.Gly270Ala) n.504G>C c.977G>C (p.Gly326Ala) c.788G>C (p.Gly263Ala) n.503G>C c.872G>C (p.Gly291Ala) | |
19 | g.41422650G>T | CA406013280 | BCKDHA | c.875G>T (p.Gly292Val) c.809G>T (p.Gly270Val) n.504G>T c.977G>T (p.Gly326Val) c.788G>T (p.Gly263Val) n.503G>T c.872G>T (p.Gly291Val) | |
19 | g.41422651C>A | CA507690694 | BCKDHA | c.876C>A (p.Gly292=) c.810C>A (p.Gly270=) n.505C>A c.978C>A (p.Gly326=) c.789C>A (p.Gly263=) n.504C>A c.873C>A (p.Gly291=) | |
19 | g.41422651C>G | CA507690692 | BCKDHA | c.876C>G (p.Gly292=) c.810C>G (p.Gly270=) n.505C>G c.978C>G (p.Gly326=) c.789C>G (p.Gly263=) n.504C>G c.873C>G (p.Gly291=) | |
19 | g.41422651C>T | CA507690693 | BCKDHA | c.876C>T (p.Gly292=) c.810C>T (p.Gly270=) n.505C>T c.978C>T (p.Gly326=) c.789C>T (p.Gly263=) n.504C>T c.873C>T (p.Gly291=) | |
19 | g.41422652A>C | CA406013286 | BCKDHA | c.877A>C (p.Ile293Leu) c.811A>C (p.Ile271Leu) n.506A>C c.979A>C (p.Ile327Leu) c.790A>C (p.Ile264Leu) n.505A>C c.874A>C (p.Ile292Leu) | |
19 | g.41422652A>G | CA406013287 | BCKDHA | c.877A>G (p.Ile293Val) c.811A>G (p.Ile271Val) n.506A>G c.979A>G (p.Ile327Val) c.790A>G (p.Ile264Val) n.505A>G c.874A>G (p.Ile292Val) | |
19 | g.41422652A>T | CA406013289 | BCKDHA | c.877A>T (p.Ile293Phe) c.811A>T (p.Ile271Phe) n.506A>T c.979A>T (p.Ile327Phe) c.790A>T (p.Ile264Phe) n.505A>T c.874A>T (p.Ile292Phe) | |
19 | g.41422653T>A | CA406013294 | BCKDHA | c.878T>A (p.Ile293Asn) c.812T>A (p.Ile271Asn) n.507T>A c.980T>A (p.Ile327Asn) c.791T>A (p.Ile264Asn) n.506T>A c.875T>A (p.Ile292Asn) | |
19 | g.41422653T>C | CA406013296 | BCKDHA | c.878T>C (p.Ile293Thr) c.812T>C (p.Ile271Thr) n.507T>C c.980T>C (p.Ile327Thr) c.791T>C (p.Ile264Thr) n.506T>C c.875T>C (p.Ile292Thr) | |
19 | g.41422653T>G | CA406013298 | BCKDHA | c.878T>G (p.Ile293Ser) c.812T>G (p.Ile271Ser) n.507T>G c.980T>G (p.Ile327Ser) c.791T>G (p.Ile264Ser) n.506T>G c.875T>G (p.Ile292Ser) | |
19 | g.41422654C>A | CA507690698 | BCKDHA | c.879C>A (p.Ile293=) c.813C>A (p.Ile271=) n.508C>A c.981C>A (p.Ile327=) c.792C>A (p.Ile264=) n.507C>A c.876C>A (p.Ile292=) | |
19 | g.41422654C>G | CA406013300 | BCKDHA | c.879C>G (p.Ile293Met) c.813C>G (p.Ile271Met) n.508C>G c.981C>G (p.Ile327Met) c.792C>G (p.Ile264Met) n.507C>G c.876C>G (p.Ile292Met) | |
19 | g.41422654C>T | CA507690699 | BCKDHA | c.879C>T (p.Ile293=) c.813C>T (p.Ile271=) n.508C>T c.981C>T (p.Ile327=) c.792C>T (p.Ile264=) n.507C>T c.876C>T (p.Ile292=) | |
19 | g.41422655A= | CA2336459209 | BCKDHA | c.880A= (p.Met294=) c.814A= (p.Met272=) n.509A= c.982A= (p.Met328=) c.793A= (p.Met265=) n.508A= c.877A= (p.Met293=) | |
19 | g.41422655A>C | CA406013303 | BCKDHA | c.880A>C (p.Met294Leu) c.814A>C (p.Met272Leu) n.509A>C c.982A>C (p.Met328Leu) c.793A>C (p.Met265Leu) n.508A>C c.877A>C (p.Met293Leu) | |
19 | g.41422655A>G | CA308524733 | BCKDHA | c.880A>G (p.Met294Val) c.814A>G (p.Met272Val) n.509A>G c.982A>G (p.Met328Val) c.793A>G (p.Met265Val) n.508A>G c.877A>G (p.Met293Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422655A>T | CA406013306 | BCKDHA | c.880A>T (p.Met294Leu) c.814A>T (p.Met272Leu) n.509A>T c.982A>T (p.Met328Leu) c.793A>T (p.Met265Leu) n.508A>T c.877A>T (p.Met293Leu) | |
19 | g.41422656T>A | CA406013308 | BCKDHA | c.881T>A (p.Met294Lys) c.815T>A (p.Met272Lys) n.510T>A c.983T>A (p.Met328Lys) c.794T>A (p.Met265Lys) n.509T>A c.878T>A (p.Met293Lys) | |
19 | g.41422656T>C | CA406013310 | BCKDHA | c.881T>C (p.Met294Thr) c.815T>C (p.Met272Thr) n.510T>C c.983T>C (p.Met328Thr) c.794T>C (p.Met265Thr) n.509T>C c.878T>C (p.Met293Thr) | gnomAD v4 |
19 | g.41422656T>G | CA406013312 | BCKDHA | c.881T>G (p.Met294Arg) c.815T>G (p.Met272Arg) n.510T>G c.983T>G (p.Met328Arg) c.794T>G (p.Met265Arg) n.509T>G c.878T>G (p.Met293Arg) | |
19 | g.41422657G>A | CA406013318 | BCKDHA | c.882G>A (p.Met294Ile) c.816G>A (p.Met272Ile) n.511G>A c.984G>A (p.Met328Ile) c.795G>A (p.Met265Ile) n.510G>A c.879G>A (p.Met293Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422657G>C | CA406013316 | BCKDHA | c.882G>C (p.Met294Ile) c.816G>C (p.Met272Ile) n.511G>C c.984G>C (p.Met328Ile) c.795G>C (p.Met265Ile) n.510G>C c.879G>C (p.Met293Ile) | |
19 | g.41422657G= | CA2336459210 | BCKDHA | c.882G= (p.Met294=) c.816G= (p.Met272=) n.511G= c.984G= (p.Met328=) c.795G= (p.Met265=) n.510G= c.879G= (p.Met293=) | |
19 | g.41422657G>T | CA406013317 | BCKDHA | c.882G>T (p.Met294Ile) c.816G>T (p.Met272Ile) n.511G>T c.984G>T (p.Met328Ile) c.795G>T (p.Met265Ile) n.510G>T c.879G>T (p.Met293Ile) | |
19 | g.41422658T>A | CA406013319 | BCKDHA | c.883T>A (p.Ser295Thr) c.817T>A (p.Ser273Thr) n.512T>A c.985T>A (p.Ser329Thr) c.796T>A (p.Ser266Thr) n.511T>A c.880T>A (p.Ser294Thr) | |
19 | g.41422658T>C | CA406013320 | BCKDHA | c.883T>C (p.Ser295Pro) c.817T>C (p.Ser273Pro) n.512T>C c.985T>C (p.Ser329Pro) c.796T>C (p.Ser266Pro) n.511T>C c.880T>C (p.Ser294Pro) | |
19 | g.41422658T>G | CA406013321 | BCKDHA | c.883T>G (p.Ser295Ala) c.817T>G (p.Ser273Ala) n.512T>G c.985T>G (p.Ser329Ala) c.796T>G (p.Ser266Ala) n.511T>G c.880T>G (p.Ser294Ala) | |
19 | g.41422659C>A | CA406013322 | BCKDHA | c.884C>A (p.Ser295Ter) c.818C>A (p.Ser273Ter) n.513C>A c.986C>A (p.Ser329Ter) c.797C>A (p.Ser266Ter) n.512C>A c.881C>A (p.Ser294Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422659C= | CA2336459211 | BCKDHA | c.884C= (p.Ser295=) c.818C= (p.Ser273=) n.513C= c.986C= (p.Ser329=) c.797C= (p.Ser266=) n.512C= c.881C= (p.Ser294=) | |
19 | g.41422659C>G | CA406013323 | BCKDHA | c.884C>G (p.Ser295Ter) c.818C>G (p.Ser273Ter) n.513C>G c.986C>G (p.Ser329Ter) c.797C>G (p.Ser266Ter) n.512C>G c.881C>G (p.Ser294Ter) | |
19 | g.41422659C>T | CA406013324 | BCKDHA | c.884C>T (p.Ser295Leu) c.818C>T (p.Ser273Leu) n.513C>T c.986C>T (p.Ser329Leu) c.797C>T (p.Ser266Leu) n.512C>T c.881C>T (p.Ser294Leu) | |
19 | g.41422660A>C | CA507690700 | BCKDHA | c.885A>C (p.Ser295=) c.819A>C (p.Ser273=) n.514A>C c.987A>C (p.Ser329=) c.798A>C (p.Ser266=) n.513A>C c.882A>C (p.Ser294=) | |
19 | g.41422660A>G | CA507690701 | BCKDHA | c.885A>G (p.Ser295=) c.819A>G (p.Ser273=) n.514A>G c.987A>G (p.Ser329=) c.798A>G (p.Ser266=) n.513A>G c.882A>G (p.Ser294=) | gnomAD v4 |
19 | g.41422660A>T | CA507690702 | BCKDHA | c.885A>T (p.Ser295=) c.819A>T (p.Ser273=) n.514A>T c.987A>T (p.Ser329=) c.798A>T (p.Ser266=) n.513A>T c.882A>T (p.Ser294=) | |
19 | g.41422661A= | CA2336459212 | BCKDHA | c.886A= (p.Ile296=) c.820A= (p.Ile274=) n.515A= c.988A= (p.Ile330=) c.799A= (p.Ile267=) n.514A= c.883A= (p.Ile295=) | |
19 | g.41422661A>C | CA406013325 | BCKDHA | c.886A>C (p.Ile296Leu) c.820A>C (p.Ile274Leu) n.515A>C c.988A>C (p.Ile330Leu) c.799A>C (p.Ile267Leu) n.514A>C c.883A>C (p.Ile295Leu) | |
19 | g.41422661A>G | CA406013326 | BCKDHA | c.886A>G (p.Ile296Val) c.820A>G (p.Ile274Val) n.515A>G c.988A>G (p.Ile330Val) c.799A>G (p.Ile267Val) n.514A>G c.883A>G (p.Ile295Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422661A>T | CA406013327 | BCKDHA | c.886A>T (p.Ile296Phe) c.820A>T (p.Ile274Phe) n.515A>T c.988A>T (p.Ile330Phe) c.799A>T (p.Ile267Phe) n.514A>T c.883A>T (p.Ile295Phe) | |
19 | g.41422662T>A | CA406013328 | BCKDHA | c.887T>A (p.Ile296Asn) c.821T>A (p.Ile274Asn) n.516T>A c.989T>A (p.Ile330Asn) c.800T>A (p.Ile267Asn) n.515T>A c.884T>A (p.Ile295Asn) | |
19 | g.41422662T>C | CA406013329 | BCKDHA | c.887T>C (p.Ile296Thr) c.821T>C (p.Ile274Thr) n.516T>C c.989T>C (p.Ile330Thr) c.800T>C (p.Ile267Thr) n.515T>C c.884T>C (p.Ile295Thr) | |
19 | g.41422662T>G | CA406013330 | BCKDHA | c.887T>G (p.Ile296Ser) c.821T>G (p.Ile274Ser) n.516T>G c.989T>G (p.Ile330Ser) c.800T>G (p.Ile267Ser) n.515T>G c.884T>G (p.Ile295Ser) | |
19 | g.41422662_41422669del | CA658820684 | BCKDHA | c.887_894del (p.Ile296ArgfsTer3) c.821_828del (p.Ile274ArgfsTer3) n.516_523del c.989_996del (p.Ile330ArgfsTer3) c.800_807del (p.Ile267ArgfsTer3) n.515_522del c.884_891del (p.Ile295ArgfsTer3) | |
19 | g.41422663C>A | CA507690703 | BCKDHA | c.888C>A (p.Ile296=) c.822C>A (p.Ile274=) n.517C>A c.990C>A (p.Ile330=) c.801C>A (p.Ile267=) n.516C>A c.885C>A (p.Ile295=) | |
19 | g.41422663C= | CA2336459213 | BCKDHA | c.888C= (p.Ile296=) c.822C= (p.Ile274=) n.517C= c.990C= (p.Ile330=) c.801C= (p.Ile267=) n.516C= c.885C= (p.Ile295=) | |
19 | g.41422663C>G | CA406013331 | BCKDHA | c.888C>G (p.Ile296Met) c.822C>G (p.Ile274Met) n.517C>G c.990C>G (p.Ile330Met) c.801C>G (p.Ile267Met) n.516C>G c.885C>G (p.Ile295Met) | |
19 | g.41422663C>T | CA507690704 | BCKDHA | c.888C>T (p.Ile296=) c.822C>T (p.Ile274=) n.517C>T c.990C>T (p.Ile330=) c.801C>T (p.Ile267=) n.516C>T c.885C>T (p.Ile295=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422664C>A | CA406013332 | BCKDHA | c.889C>A (p.Arg297Ser) c.823C>A (p.Arg275Ser) n.518C>A c.991C>A (p.Arg331Ser) c.802C>A (p.Arg268Ser) n.517C>A c.886C>A (p.Arg296Ser) | |
19 | g.41422664C= | CA2336459214 | BCKDHA | c.889C= (p.Arg297=) c.823C= (p.Arg275=) n.518C= c.991C= (p.Arg331=) c.802C= (p.Arg268=) n.517C= c.886C= (p.Arg296=) | |
19 | g.41422664C>G | CA406013333 | BCKDHA | c.889C>G (p.Arg297Gly) c.823C>G (p.Arg275Gly) n.518C>G c.991C>G (p.Arg331Gly) c.802C>G (p.Arg268Gly) n.517C>G c.886C>G (p.Arg296Gly) | |
19 | g.41422664C>T | CA9461294 | BCKDHA | c.889C>T (p.Arg297Cys) c.823C>T (p.Arg275Cys) n.518C>T c.991C>T (p.Arg331Cys) c.802C>T (p.Arg268Cys) n.517C>T c.886C>T (p.Arg296Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422665G>A | CA221222 | BCKDHA | c.890G>A (p.Arg297His) c.824G>A (p.Arg275His) n.519G>A c.992G>A (p.Arg331His) c.803G>A (p.Arg268His) n.518G>A c.887G>A (p.Arg296His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422665G>C | CA406013334 | BCKDHA | c.890G>C (p.Arg297Pro) c.824G>C (p.Arg275Pro) n.519G>C c.992G>C (p.Arg331Pro) c.803G>C (p.Arg268Pro) n.518G>C c.887G>C (p.Arg296Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422665G= | CA2336459215 | BCKDHA | c.890G= (p.Arg297=) c.824G= (p.Arg275=) n.519G= c.992G= (p.Arg331=) c.803G= (p.Arg268=) n.518G= c.887G= (p.Arg296=) | |
19 | g.41422665G>T | CA406013335 | BCKDHA | c.890G>T (p.Arg297Leu) c.824G>T (p.Arg275Leu) n.519G>T c.992G>T (p.Arg331Leu) c.803G>T (p.Arg268Leu) n.518G>T c.887G>T (p.Arg296Leu) | |
19 | g.41422666C>A | CA507690705 | BCKDHA | c.891C>A (p.Arg297=) c.825C>A (p.Arg275=) n.520C>A c.993C>A (p.Arg331=) c.804C>A (p.Arg268=) n.519C>A c.888C>A (p.Arg296=) | |
19 | g.41422666C= | CA2336459216 | BCKDHA | c.891C= (p.Arg297=) c.825C= (p.Arg275=) n.520C= c.993C= (p.Arg331=) c.804C= (p.Arg268=) n.519C= c.888C= (p.Arg296=) | |
19 | g.41422666C>G | CA507690706 | BCKDHA | c.891C>G (p.Arg297=) c.825C>G (p.Arg275=) n.520C>G c.993C>G (p.Arg331=) c.804C>G (p.Arg268=) n.519C>G c.888C>G (p.Arg296=) | |
19 | g.41422666C>T | CA9461295 | BCKDHA | c.891C>T (p.Arg297=) c.825C>T (p.Arg275=) n.520C>T c.993C>T (p.Arg331=) c.804C>T (p.Arg268=) n.519C>T c.888C>T (p.Arg296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41422667G>A | CA406013336 | BCKDHA | c.892G>A (p.Val298Met) c.826G>A (p.Val276Met) n.521G>A c.994G>A (p.Val332Met) c.805G>A (p.Val269Met) n.520G>A c.889G>A (p.Val297Met) | ClinVar dbSNP gnomAD v4 |
19 | g.41422667G>C | CA406013337 | BCKDHA | c.892G>C (p.Val298Leu) c.826G>C (p.Val276Leu) n.521G>C c.994G>C (p.Val332Leu) c.805G>C (p.Val269Leu) n.520G>C c.889G>C (p.Val297Leu) | |
19 | g.41422667G= | CA2336459217 | BCKDHA | c.892G= (p.Val298=) c.826G= (p.Val276=) n.521G= c.994G= (p.Val332=) c.805G= (p.Val269=) n.520G= c.889G= (p.Val297=) | |
19 | g.41422667G>T | CA406013338 | BCKDHA | c.892G>T (p.Val298Leu) c.826G>T (p.Val276Leu) n.521G>T c.994G>T (p.Val332Leu) c.805G>T (p.Val269Leu) n.520G>T c.889G>T (p.Val297Leu) | gnomAD v4 |
19 | g.41422668T>A | CA406013339 | BCKDHA | c.893T>A (p.Val298Glu) c.827T>A (p.Val276Glu) n.522T>A c.995T>A (p.Val332Glu) c.806T>A (p.Val269Glu) n.521T>A c.890T>A (p.Val297Glu) | |
19 | g.41422668T>C | CA406013340 | BCKDHA | c.893T>C (p.Val298Ala) c.827T>C (p.Val276Ala) n.522T>C c.995T>C (p.Val332Ala) c.806T>C (p.Val269Ala) n.521T>C c.890T>C (p.Val297Ala) | |
19 | g.41422668T>G | CA406013341 | BCKDHA | c.893T>G (p.Val298Gly) c.827T>G (p.Val276Gly) n.522T>G c.995T>G (p.Val332Gly) c.806T>G (p.Val269Gly) n.521T>G c.890T>G (p.Val297Gly) | |
19 | g.41422668dup | CA2838609644 | BCKDHA | c.893dup (p.Asp299GlyfsTer3) c.827dup (p.Asp277GlyfsTer3) n.522dup c.995dup (p.Asp333GlyfsTer3) c.806dup (p.Asp270GlyfsTer3) n.521dup c.890dup (p.Asp298GlyfsTer3) | |
19 | g.41422669G>A | CA507690707 | BCKDHA | c.894G>A (p.Val298=) c.828G>A (p.Val276=) n.523G>A c.996G>A (p.Val332=) c.807G>A (p.Val269=) n.522G>A c.891G>A (p.Val297=) | |
19 | g.41422669G>C | CA507690708 | BCKDHA | c.894G>C (p.Val298=) c.828G>C (p.Val276=) n.523G>C c.996G>C (p.Val332=) c.807G>C (p.Val269=) n.522G>C c.891G>C (p.Val297=) | |
19 | g.41422669G>T | CA507690709 | BCKDHA | c.894G>T (p.Val298=) c.828G>T (p.Val276=) n.523G>T c.996G>T (p.Val332=) c.807G>T (p.Val269=) n.522G>T c.891G>T (p.Val297=) | |
19 | g.41422670G>A | CA406013342 | BCKDHA | c.895G>A (p.Asp299Asn) c.829G>A (p.Asp277Asn) n.524G>A c.997G>A (p.Asp333Asn) c.808G>A (p.Asp270Asn) n.523G>A c.892G>A (p.Asp298Asn) | |
19 | g.41422670G>C | CA406013343 | BCKDHA | c.895G>C (p.Asp299His) c.829G>C (p.Asp277His) n.524G>C c.997G>C (p.Asp333His) c.808G>C (p.Asp270His) n.523G>C c.892G>C (p.Asp298His) | |
19 | g.41422670G>T | CA406013344 | BCKDHA | c.895G>T (p.Asp299Tyr) c.829G>T (p.Asp277Tyr) n.524G>T c.997G>T (p.Asp333Tyr) c.808G>T (p.Asp270Tyr) n.523G>T c.892G>T (p.Asp298Tyr) | |
19 | g.41422671A>C | CA406013345 | BCKDHA | c.896A>C (p.Asp299Ala) c.830A>C (p.Asp277Ala) n.525A>C c.998A>C (p.Asp333Ala) c.809A>C (p.Asp270Ala) n.524A>C c.893A>C (p.Asp298Ala) | |
19 | g.41422671A>G | CA406013346 | BCKDHA | c.896A>G (p.Asp299Gly) c.830A>G (p.Asp277Gly) n.525A>G c.998A>G (p.Asp333Gly) c.809A>G (p.Asp270Gly) n.524A>G c.893A>G (p.Asp298Gly) | |
19 | g.41422671A>T | CA406013347 | BCKDHA | c.896A>T (p.Asp299Val) c.830A>T (p.Asp277Val) n.525A>T c.998A>T (p.Asp333Val) c.809A>T (p.Asp270Val) n.524A>T c.893A>T (p.Asp298Val) | |
19 | g.41422672T>A | CA406013348 | BCKDHA | c.897T>A (p.Asp299Glu) c.831T>A (p.Asp277Glu) n.526T>A c.999T>A (p.Asp333Glu) c.810T>A (p.Asp270Glu) n.525T>A c.894T>A (p.Asp298Glu) | |
19 | g.41422672T>C | CA507690710 | BCKDHA | c.897T>C (p.Asp299=) c.831T>C (p.Asp277=) n.526T>C c.999T>C (p.Asp333=) c.810T>C (p.Asp270=) n.525T>C c.894T>C (p.Asp298=) | dbSNP |
19 | g.41422672T>G | CA406013350 | BCKDHA | c.897T>G (p.Asp299Glu) c.831T>G (p.Asp277Glu) n.526T>G c.999T>G (p.Asp333Glu) c.810T>G (p.Asp270Glu) n.525T>G c.894T>G (p.Asp298Glu) | |
19 | g.41422672T= | CA2336459218 | BCKDHA | c.897T= (p.Asp299=) c.831T= (p.Asp277=) n.526T= c.999T= (p.Asp333=) c.810T= (p.Asp270=) n.525T= c.894T= (p.Asp298=) | |
19 | g.41422673G>A | CA406013351 | BCKDHA | c.898G>A (p.Gly300Ser) c.832G>A (p.Gly278Ser) n.527G>A c.1000G>A (p.Gly334Ser) c.811G>A (p.Gly271Ser) n.526G>A c.895G>A (p.Gly299Ser) | |
19 | g.41422673G>C | CA406013352 | BCKDHA | c.898G>C (p.Gly300Arg) c.832G>C (p.Gly278Arg) n.527G>C c.1000G>C (p.Gly334Arg) c.811G>C (p.Gly271Arg) n.526G>C c.895G>C (p.Gly299Arg) | |
19 | g.41422673G>T | CA406013353 | BCKDHA | c.898G>T (p.Gly300Cys) c.832G>T (p.Gly278Cys) n.527G>T c.1000G>T (p.Gly334Cys) c.811G>T (p.Gly271Cys) n.526G>T c.895G>T (p.Gly299Cys) | |
19 | g.41422674G>A | CA9461296 | BCKDHA | c.899G>A (p.Gly300Asp) c.833G>A (p.Gly278Asp) n.528G>A c.1001G>A (p.Gly334Asp) c.812G>A (p.Gly271Asp) n.527G>A c.896G>A (p.Gly299Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.41422674G>C | CA406013354 | BCKDHA | c.899G>C (p.Gly300Ala) c.833G>C (p.Gly278Ala) n.528G>C c.1001G>C (p.Gly334Ala) c.812G>C (p.Gly271Ala) n.527G>C c.896G>C (p.Gly299Ala) | |
19 | g.41422674G= | CA2336459219 | BCKDHA | c.899G= (p.Gly300=) c.833G= (p.Gly278=) n.528G= c.1001G= (p.Gly334=) c.812G= (p.Gly271=) n.527G= c.896G= (p.Gly299=) | |
19 | g.41422674G>T | CA406013355 | BCKDHA | c.899G>T (p.Gly300Val) c.833G>T (p.Gly278Val) n.528G>T c.1001G>T (p.Gly334Val) c.812G>T (p.Gly271Val) n.527G>T c.896G>T (p.Gly299Val) | |
19 | g.41422675T>A | CA507690711 | BCKDHA | c.900T>A (p.Gly300=) c.834T>A (p.Gly278=) n.529T>A c.1002T>A (p.Gly334=) c.813T>A (p.Gly271=) n.528T>A c.897T>A (p.Gly299=) | |
19 | g.41422675T>C | CA507690712 | BCKDHA | c.900T>C (p.Gly300=) c.834T>C (p.Gly278=) n.529T>C c.1002T>C (p.Gly334=) c.813T>C (p.Gly271=) n.528T>C c.897T>C (p.Gly299=) | |
19 | g.41422675T>G | CA507690713 | BCKDHA | c.900T>G (p.Gly300=) c.834T>G (p.Gly278=) n.529T>G c.1002T>G (p.Gly334=) c.813T>G (p.Gly271=) n.528T>G c.897T>G (p.Gly299=) | |
19 | g.41422676A= | CA2336459220 | BCKDHA | c.901A= (p.Asn301=) c.835A= (p.Asn279=) n.530A= c.1003A= (p.Asn335=) c.814A= (p.Asn272=) n.529A= c.898A= (p.Asn300=) | |
19 | g.41422676A>C | CA406013356 | BCKDHA | c.901A>C (p.Asn301His) c.835A>C (p.Asn279His) n.530A>C c.1003A>C (p.Asn335His) c.814A>C (p.Asn272His) n.529A>C c.898A>C (p.Asn300His) | |
19 | g.41422676A>G | CA406013357 | BCKDHA | c.901A>G (p.Asn301Asp) c.835A>G (p.Asn279Asp) n.530A>G c.1003A>G (p.Asn335Asp) c.814A>G (p.Asn272Asp) n.529A>G c.898A>G (p.Asn300Asp) | dbSNP |
19 | g.41422676A>T | CA406013358 | BCKDHA | c.901A>T (p.Asn301Tyr) c.835A>T (p.Asn279Tyr) n.530A>T c.1003A>T (p.Asn335Tyr) c.814A>T (p.Asn272Tyr) n.529A>T c.898A>T (p.Asn300Tyr) | |
19 | g.41422677A>C | CA406013359 | BCKDHA | c.902A>C (p.Asn301Thr) c.836A>C (p.Asn279Thr) n.531A>C c.1004A>C (p.Asn335Thr) c.815A>C (p.Asn272Thr) n.530A>C c.899A>C (p.Asn300Thr) | |
19 | g.41422677A>G | CA406013360 | BCKDHA | c.902A>G (p.Asn301Ser) c.836A>G (p.Asn279Ser) n.531A>G c.1004A>G (p.Asn335Ser) c.815A>G (p.Asn272Ser) n.530A>G c.899A>G (p.Asn300Ser) | gnomAD v4 |
19 | g.41422677A>T | CA406013361 | BCKDHA | c.902A>T (p.Asn301Ile) c.836A>T (p.Asn279Ile) n.531A>T c.1004A>T (p.Asn335Ile) c.815A>T (p.Asn272Ile) n.530A>T c.899A>T (p.Asn300Ile) | |
19 | g.41422680_41422682del | CA2585308118 | BCKDHA | c.905_907del (p.Asp302del) c.839_841del (p.Asp280del) n.534_536del c.1007_1009del (p.Asp336del) c.818_820del (p.Asp273del) n.533_535del c.902_904del (p.Asp301del) | gnomAD v4 |
19 | g.41422678T>A | CA406013363 | BCKDHA | c.903T>A (p.Asn301Lys) c.837T>A (p.Asn279Lys) n.532T>A c.1005T>A (p.Asn335Lys) c.816T>A (p.Asn272Lys) n.531T>A c.900T>A (p.Asn300Lys) | |
19 | g.41422678T>C | CA507690714 | BCKDHA | c.903T>C (p.Asn301=) c.837T>C (p.Asn279=) n.532T>C c.1005T>C (p.Asn335=) c.816T>C (p.Asn272=) n.531T>C c.900T>C (p.Asn300=) | gnomAD v4 |
19 | g.41422678T>G | CA406013362 | BCKDHA | c.903T>G (p.Asn301Lys) c.837T>G (p.Asn279Lys) n.532T>G c.1005T>G (p.Asn335Lys) c.816T>G (p.Asn272Lys) n.531T>G c.900T>G (p.Asn300Lys) | |
19 | g.41422679G>A | CA406013364 | BCKDHA | c.904G>A (p.Asp302Asn) c.838G>A (p.Asp280Asn) n.533G>A c.1006G>A (p.Asp336Asn) c.817G>A (p.Asp273Asn) n.532G>A c.901G>A (p.Asp301Asn) | ClinVar |
19 | g.41422679G>C | CA406013365 | BCKDHA | c.904G>C (p.Asp302His) c.838G>C (p.Asp280His) n.533G>C c.1006G>C (p.Asp336His) c.817G>C (p.Asp273His) n.532G>C c.901G>C (p.Asp301His) | |
19 | g.41422679G>T | CA406013366 | BCKDHA | c.904G>T (p.Asp302Tyr) c.838G>T (p.Asp280Tyr) n.533G>T c.1006G>T (p.Asp336Tyr) c.817G>T (p.Asp273Tyr) n.532G>T c.901G>T (p.Asp301Tyr) | |
19 | g.41422680A= | CA2336459221 | BCKDHA | c.905A= (p.Asp302=) c.839A= (p.Asp280=) n.534A= c.1007A= (p.Asp336=) c.818A= (p.Asp273=) n.533A= c.902A= (p.Asp301=) | |
19 | g.41422680A>C | CA221224 | BCKDHA | c.905A>C (p.Asp302Ala) c.839A>C (p.Asp280Ala) n.534A>C c.1007A>C (p.Asp336Ala) c.818A>C (p.Asp273Ala) n.533A>C c.902A>C (p.Asp301Ala) | ClinVar dbSNP gnomAD v4 |
19 | g.41422680A>G | CA406013367 | BCKDHA | c.905A>G (p.Asp302Gly) c.839A>G (p.Asp280Gly) n.534A>G c.1007A>G (p.Asp336Gly) c.818A>G (p.Asp273Gly) n.533A>G c.902A>G (p.Asp301Gly) | ClinVar |
19 | g.41422680A>T | CA406013368 | BCKDHA | c.905A>T (p.Asp302Val) c.839A>T (p.Asp280Val) n.534A>T c.1007A>T (p.Asp336Val) c.818A>T (p.Asp273Val) n.533A>T c.902A>T (p.Asp301Val) | |
19 | g.41422680_41422682delinsATG | CA2336459222 | BCKDHA | c.905_907delinsATG (p.Asp302=) c.839_841delinsATG (p.Asp280=) n.534_536delinsATG c.1007_1009delinsATG (p.Asp336=) c.818_820delinsATG (p.Asp273=) n.533_535delinsATG c.902_904delinsATG (p.Asp301=) | |
19 | g.41422681T>A | CA406013369 | BCKDHA | c.906T>A (p.Asp302Glu) c.840T>A (p.Asp280Glu) n.535T>A c.1008T>A (p.Asp336Glu) c.819T>A (p.Asp273Glu) n.534T>A c.903T>A (p.Asp301Glu) | ClinVar |
19 | g.41422681T>C | CA507690715 | BCKDHA | c.906T>C (p.Asp302=) c.840T>C (p.Asp280=) n.535T>C c.1008T>C (p.Asp336=) c.819T>C (p.Asp273=) n.534T>C c.903T>C (p.Asp301=) | |
19 | g.41422681T>G | CA406013370 | BCKDHA | c.906T>G (p.Asp302Glu) c.840T>G (p.Asp280Glu) n.535T>G c.1008T>G (p.Asp336Glu) c.819T>G (p.Asp273Glu) n.534T>G c.903T>G (p.Asp301Glu) | |
19 | g.41422684_41422685del | CA221226 | BCKDHA | c.909_910del (p.Phe304CysfsTer?) c.843_844del (p.Phe282CysfsTer?) n.538_539del c.1011_1012del (p.Phe338CysfsTer?) c.822_823del (p.Phe275CysfsTer?) n.537_538del c.906_907del (p.Phe303CysfsTer?) | ClinVar dbSNP |
19 | g.41422682G>A | CA406013371 | BCKDHA | c.907G>A (p.Val303Met) c.841G>A (p.Val281Met) n.536G>A c.1009G>A (p.Val337Met) c.820G>A (p.Val274Met) n.535G>A c.904G>A (p.Val302Met) | |
19 | g.41422682G>C | CA406013372 | BCKDHA | c.907G>C (p.Val303Leu) c.841G>C (p.Val281Leu) n.536G>C c.1009G>C (p.Val337Leu) c.820G>C (p.Val274Leu) n.535G>C c.904G>C (p.Val302Leu) | |
19 | g.41422682G>T | CA406013373 | BCKDHA | c.907G>T (p.Val303Leu) c.841G>T (p.Val281Leu) n.536G>T c.1009G>T (p.Val337Leu) c.820G>T (p.Val274Leu) n.535G>T c.904G>T (p.Val302Leu) | |
19 | g.41422683T>A | CA406013374 | BCKDHA | c.908T>A (p.Val303Glu) c.842T>A (p.Val281Glu) n.537T>A c.1010T>A (p.Val337Glu) c.821T>A (p.Val274Glu) n.536T>A c.905T>A (p.Val302Glu) | |
19 | g.41422683T>C | CA406013375 | BCKDHA | c.908T>C (p.Val303Ala) c.842T>C (p.Val281Ala) n.537T>C c.1010T>C (p.Val337Ala) c.821T>C (p.Val274Ala) n.536T>C c.905T>C (p.Val302Ala) | |
19 | g.41422683T>G | CA406013376 | BCKDHA | c.908T>G (p.Val303Gly) c.842T>G (p.Val281Gly) n.537T>G c.1010T>G (p.Val337Gly) c.821T>G (p.Val274Gly) n.536T>G c.905T>G (p.Val302Gly) | |
19 | g.41422684G>A | CA507690716 | BCKDHA | c.909G>A (p.Val303=) c.843G>A (p.Val281=) n.538G>A c.1011G>A (p.Val337=) c.822G>A (p.Val274=) n.537G>A c.906G>A (p.Val302=) | |
19 | g.41422684G>C | CA507690717 | BCKDHA | c.909G>C (p.Val303=) c.843G>C (p.Val281=) n.538G>C c.1011G>C (p.Val337=) c.822G>C (p.Val274=) n.537G>C c.906G>C (p.Val302=) | |
19 | g.41422684G>T | CA507690718 | BCKDHA | c.909G>T (p.Val303=) c.843G>T (p.Val281=) n.538G>T c.1011G>T (p.Val337=) c.822G>T (p.Val274=) n.537G>T c.906G>T (p.Val302=) | |
19 | g.41422684_41422685delinsGT | CA2336459223 | BCKDHA | c.909_910delinsGT (p.Val303=) c.843_844delinsGT (p.Val281=) n.538_539delinsGT c.1011_1012delinsGT (p.Val337=) c.822_823delinsGT (p.Val274=) n.537_538delinsGT c.906_907delinsGT (p.Val302=) | |
19 | g.41422685T>A | CA406013377 | BCKDHA | c.910T>A (p.Phe304Ile) c.844T>A (p.Phe282Ile) n.539T>A c.1012T>A (p.Phe338Ile) c.823T>A (p.Phe275Ile) n.538T>A c.907T>A (p.Phe303Ile) | |
19 | g.41422685T>C | CA221227 | BCKDHA | c.910T>C (p.Phe304Leu) c.844T>C (p.Phe282Leu) n.539T>C c.1012T>C (p.Phe338Leu) c.823T>C (p.Phe275Leu) n.538T>C c.907T>C (p.Phe303Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422685T>G | CA406013378 | BCKDHA | c.910T>G (p.Phe304Val) c.844T>G (p.Phe282Val) n.539T>G c.1012T>G (p.Phe338Val) c.823T>G (p.Phe275Val) n.538T>G c.907T>G (p.Phe303Val) | |
19 | g.41422685T= | CA2336459224 | BCKDHA | c.910T= (p.Phe304=) c.844T= (p.Phe282=) n.539T= c.1012T= (p.Phe338=) c.823T= (p.Phe275=) n.538T= c.907T= (p.Phe303=) | |
19 | g.41422687del | CA882349820 | BCKDHA | c.912del (p.Phe304LeufsTer26) c.846del (p.Phe282LeufsTer26) n.541del c.1014del (p.Phe338LeufsTer26) c.825del (p.Phe275LeufsTer26) n.540del c.912del (p.Phe304LeufsTer30) c.909del (p.Phe303LeufsTer26) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422686T>A | CA406013379 | BCKDHA | c.911T>A (p.Phe304Tyr) c.845T>A (p.Phe282Tyr) n.540T>A c.1013T>A (p.Phe338Tyr) c.824T>A (p.Phe275Tyr) n.539T>A c.908T>A (p.Phe303Tyr) | |
19 | g.41422686T>C | CA406013381 | BCKDHA | c.911T>C (p.Phe304Ser) c.845T>C (p.Phe282Ser) n.540T>C c.1013T>C (p.Phe338Ser) c.824T>C (p.Phe275Ser) n.539T>C c.908T>C (p.Phe303Ser) | |
19 | g.41422686T>G | CA406013380 | BCKDHA | c.911T>G (p.Phe304Cys) c.845T>G (p.Phe282Cys) n.540T>G c.1013T>G (p.Phe338Cys) c.824T>G (p.Phe275Cys) n.539T>G c.908T>G (p.Phe303Cys) | |
19 | g.41422687T>A | CA406013382 | BCKDHA | c.912T>A (p.Phe304Leu) c.846T>A (p.Phe282Leu) n.541T>A c.1014T>A (p.Phe338Leu) c.825T>A (p.Phe275Leu) n.540T>A c.909T>A (p.Phe303Leu) | |
19 | g.41422687T>C | CA507690719 | BCKDHA | c.912T>C (p.Phe304=) c.846T>C (p.Phe282=) n.541T>C c.1014T>C (p.Phe338=) c.825T>C (p.Phe275=) n.540T>C c.909T>C (p.Phe303=) | |
19 | g.41422687T>G | CA406013383 | BCKDHA | c.912T>G (p.Phe304Leu) c.846T>G (p.Phe282Leu) n.541T>G c.1014T>G (p.Phe338Leu) c.825T>G (p.Phe275Leu) n.540T>G c.909T>G (p.Phe303Leu) | |
19 | g.41422688G>A | CA406013384 | BCKDHA | c.913G>A (p.Ala305Thr) c.847G>A (p.Ala283Thr) n.542G>A c.1015G>A (p.Ala339Thr) c.826G>A (p.Ala276Thr) n.541G>A c.910G>A (p.Ala304Thr) | |
19 | g.41422688G>C | CA406013385 | BCKDHA | c.913G>C (p.Ala305Pro) c.847G>C (p.Ala283Pro) n.542G>C c.1015G>C (p.Ala339Pro) c.826G>C (p.Ala276Pro) n.541G>C c.910G>C (p.Ala304Pro) | |
19 | g.41422688G>T | CA406013386 | BCKDHA | c.913G>T (p.Ala305Ser) c.847G>T (p.Ala283Ser) n.542G>T c.1015G>T (p.Ala339Ser) c.826G>T (p.Ala276Ser) n.541G>T c.910G>T (p.Ala304Ser) | |
19 | g.41422689C>A | CA406013387 | BCKDHA | c.914C>A (p.Ala305Asp) c.848C>A (p.Ala283Asp) n.543C>A c.1016C>A (p.Ala339Asp) c.827C>A (p.Ala276Asp) n.542C>A c.911C>A (p.Ala304Asp) | |
19 | g.41422689C= | CA2336459225 | BCKDHA | c.914C= (p.Ala305=) c.848C= (p.Ala283=) n.543C= c.1016C= (p.Ala339=) c.827C= (p.Ala276=) n.542C= c.911C= (p.Ala304=) | |
19 | g.41422689C>G | CA406013388 | BCKDHA | c.914C>G (p.Ala305Gly) c.848C>G (p.Ala283Gly) n.543C>G c.1016C>G (p.Ala339Gly) c.827C>G (p.Ala276Gly) n.542C>G c.911C>G (p.Ala304Gly) | |
19 | g.41422689C>T | CA308524778 | BCKDHA | c.914C>T (p.Ala305Val) c.848C>T (p.Ala283Val) n.543C>T c.1016C>T (p.Ala339Val) c.827C>T (p.Ala276Val) n.542C>T c.911C>T (p.Ala304Val) | dbSNP |
19 | g.41422690C>A | CA507690720 | BCKDHA | c.915C>A (p.Ala305=) c.849C>A (p.Ala283=) n.544C>A c.1017C>A (p.Ala339=) c.828C>A (p.Ala276=) n.543C>A c.912C>A (p.Ala304=) | |
19 | g.41422690C= | CA2336459226 | BCKDHA | c.915C= (p.Ala305=) c.849C= (p.Ala283=) n.544C= c.1017C= (p.Ala339=) c.828C= (p.Ala276=) n.543C= c.912C= (p.Ala304=) | |
19 | g.41422690C>G | CA507690721 | BCKDHA | c.915C>G (p.Ala305=) c.849C>G (p.Ala283=) n.544C>G c.1017C>G (p.Ala339=) c.828C>G (p.Ala276=) n.543C>G c.912C>G (p.Ala304=) | |
19 | g.41422690C>T | CA9461297 | BCKDHA | c.915C>T (p.Ala305=) c.849C>T (p.Ala283=) n.544C>T c.1017C>T (p.Ala339=) c.828C>T (p.Ala276=) n.543C>T c.912C>T (p.Ala304=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41422691G>A | CA406013391 | BCKDHA | c.916G>A (p.Val306Ile) c.850G>A (p.Val284Ile) n.545G>A c.1018G>A (p.Val340Ile) c.829G>A (p.Val277Ile) n.544G>A c.913G>A (p.Val305Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422691G>C | CA406013389 | BCKDHA | c.916G>C (p.Val306Leu) c.850G>C (p.Val284Leu) n.545G>C c.1018G>C (p.Val340Leu) c.829G>C (p.Val277Leu) n.544G>C c.913G>C (p.Val305Leu) | |
19 | g.41422691G= | CA2336459228 | BCKDHA | c.916G= (p.Val306=) c.850G= (p.Val284=) n.545G= c.1018G= (p.Val340=) c.829G= (p.Val277=) n.544G= c.913G= (p.Val305=) | |
19 | g.41422691G>T | CA406013390 | BCKDHA | c.916G>T (p.Val306Leu) c.850G>T (p.Val284Leu) n.545G>T c.1018G>T (p.Val340Leu) c.829G>T (p.Val277Leu) n.544G>T c.913G>T (p.Val305Leu) | |
19 | g.41422691_41422692delinsGT | CA2336459227 | BCKDHA | c.916_917delinsGT (p.Val306=) c.850_851delinsGT (p.Val284=) n.545_546delinsGT c.1018_1019delinsGT (p.Val340=) c.829_830delinsGT (p.Val277=) n.544_545delinsGT c.913_914delinsGT (p.Val305=) | |
19 | g.41422692del | CA221229 | BCKDHA | c.917del (p.Val306AspfsTer24) c.851del (p.Val284AspfsTer24) n.546del c.1019del (p.Val340AspfsTer24) c.830del (p.Val277AspfsTer24) n.545del c.917del (p.Val306AspfsTer28) c.914del (p.Val305AspfsTer24) | ClinVar dbSNP |
19 | g.41422692T>A | CA406013392 | BCKDHA | c.917T>A (p.Val306Glu) c.851T>A (p.Val284Glu) n.546T>A c.1019T>A (p.Val340Glu) c.830T>A (p.Val277Glu) n.545T>A c.914T>A (p.Val305Glu) | |
19 | g.41422692T>C | CA406013393 | BCKDHA | c.917T>C (p.Val306Ala) c.851T>C (p.Val284Ala) n.546T>C c.1019T>C (p.Val340Ala) c.830T>C (p.Val277Ala) n.545T>C c.914T>C (p.Val305Ala) | |
19 | g.41422692T>G | CA406013394 | BCKDHA | c.917T>G (p.Val306Gly) c.851T>G (p.Val284Gly) n.546T>G c.1019T>G (p.Val340Gly) c.830T>G (p.Val277Gly) n.545T>G c.914T>G (p.Val305Gly) | |
19 | g.41422693A>C | CA507690722 | BCKDHA | c.918A>C (p.Val306=) c.852A>C (p.Val284=) n.547A>C c.1020A>C (p.Val340=) c.831A>C (p.Val277=) n.546A>C c.915A>C (p.Val305=) | ClinVar |
19 | g.41422693A>G | CA507690723 | BCKDHA | c.918A>G (p.Val306=) c.852A>G (p.Val284=) n.547A>G c.1020A>G (p.Val340=) c.831A>G (p.Val277=) n.546A>G c.915A>G (p.Val305=) | |
19 | g.41422693A>T | CA507690724 | BCKDHA | c.918A>T (p.Val306=) c.852A>T (p.Val284=) n.547A>T c.1020A>T (p.Val340=) c.831A>T (p.Val277=) n.546A>T c.915A>T (p.Val305=) | |
19 | g.41422694T>A | CA406013396 | BCKDHA | c.919T>A (p.Tyr307Asn) c.853T>A (p.Tyr285Asn) n.548T>A c.1021T>A (p.Tyr341Asn) c.832T>A (p.Tyr278Asn) n.547T>A c.916T>A (p.Tyr306Asn) | |
19 | g.41422694T>C | CA9461298 | BCKDHA | c.919T>C (p.Tyr307His) c.853T>C (p.Tyr285His) n.548T>C c.1021T>C (p.Tyr341His) c.832T>C (p.Tyr278His) n.547T>C c.916T>C (p.Tyr306His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422694T>G | CA406013395 | BCKDHA | c.919T>G (p.Tyr307Asp) c.853T>G (p.Tyr285Asp) n.548T>G c.1021T>G (p.Tyr341Asp) c.832T>G (p.Tyr278Asp) n.547T>G c.916T>G (p.Tyr306Asp) | |
19 | g.41422694T= | CA2336459229 | BCKDHA | c.919T= (p.Tyr307=) c.853T= (p.Tyr285=) n.548T= c.1021T= (p.Tyr341=) c.832T= (p.Tyr278=) n.547T= c.916T= (p.Tyr306=) | |
19 | g.41422695A= | CA2336459230 | BCKDHA | c.920A= (p.Tyr307=) c.854A= (p.Tyr285=) n.549A= c.1022A= (p.Tyr341=) c.833A= (p.Tyr278=) n.548A= c.917A= (p.Tyr306=) | |
19 | g.41422695A>C | CA406013397 | BCKDHA | c.920A>C (p.Tyr307Ser) c.854A>C (p.Tyr285Ser) n.549A>C c.1022A>C (p.Tyr341Ser) c.833A>C (p.Tyr278Ser) n.548A>C c.917A>C (p.Tyr306Ser) | |
19 | g.41422695A>G | CA9461299 | BCKDHA | c.920A>G (p.Tyr307Cys) c.854A>G (p.Tyr285Cys) n.549A>G c.1022A>G (p.Tyr341Cys) c.833A>G (p.Tyr278Cys) n.548A>G c.917A>G (p.Tyr306Cys) | dbSNP ExAC gnomAD v2 |
19 | g.41422695A>T | CA406013398 | BCKDHA | c.920A>T (p.Tyr307Phe) c.854A>T (p.Tyr285Phe) n.549A>T c.1022A>T (p.Tyr341Phe) c.833A>T (p.Tyr278Phe) n.548A>T c.917A>T (p.Tyr306Phe) | |
19 | g.41422696C>A | CA9461300 | BCKDHA | c.921C>A (p.Tyr307Ter) c.855C>A (p.Tyr285Ter) n.550C>A c.1023C>A (p.Tyr341Ter) c.834C>A (p.Tyr278Ter) n.549C>A c.918C>A (p.Tyr306Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422696C= | CA2336459231 | BCKDHA | c.921C= (p.Tyr307=) c.855C= (p.Tyr285=) n.550C= c.1023C= (p.Tyr341=) c.834C= (p.Tyr278=) n.549C= c.918C= (p.Tyr306=) | |
19 | g.41422696C>G | CA406013399 | BCKDHA | c.921C>G (p.Tyr307Ter) c.855C>G (p.Tyr285Ter) n.550C>G c.1023C>G (p.Tyr341Ter) c.834C>G (p.Tyr278Ter) n.549C>G c.918C>G (p.Tyr306Ter) | gnomAD v4 |
19 | g.41422696C>T | CA507690725 | BCKDHA | c.921C>T (p.Tyr307=) c.855C>T (p.Tyr285=) n.550C>T c.1023C>T (p.Tyr341=) c.834C>T (p.Tyr278=) n.549C>T c.918C>T (p.Tyr306=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422697A>C | CA406013402 | BCKDHA | c.922A>C (p.Asn308His) c.856A>C (p.Asn286His) n.551A>C c.1024A>C (p.Asn342His) c.835A>C (p.Asn279His) n.550A>C c.922A>C (p.Thr308Pro) c.919A>C (p.Asn307His) | |
19 | g.41422697A>G | CA406013400 | BCKDHA | c.922A>G (p.Asn308Asp) c.856A>G (p.Asn286Asp) n.551A>G c.1024A>G (p.Asn342Asp) c.835A>G (p.Asn279Asp) n.550A>G c.922A>G (p.Thr308Ala) c.919A>G (p.Asn307Asp) | |
19 | g.41422697A>T | CA406013401 | BCKDHA | c.922A>T (p.Asn308Tyr) c.856A>T (p.Asn286Tyr) n.551A>T c.1024A>T (p.Asn342Tyr) c.835A>T (p.Asn279Tyr) n.550A>T c.922A>T (p.Thr308Ser) c.919A>T (p.Asn307Tyr) | |
19 | g.41422698A= | CA2336459232 | BCKDHA | c.923A= (p.Asn308=) c.857A= (p.Asn286=) n.552A= c.1025A= (p.Asn342=) c.836A= (p.Asn279=) n.551A= c.922+1A= (n.922+1A=) c.920A= (p.Asn307=) | |
19 | g.41422698A>C | CA406013403 | BCKDHA | c.923A>C (p.Asn308Thr) c.857A>C (p.Asn286Thr) n.552A>C c.1025A>C (p.Asn342Thr) c.836A>C (p.Asn279Thr) n.551A>C c.922+1A>C (n.922+1A>C) c.920A>C (p.Asn307Thr) | |
19 | g.41422698A>G | CA9461301 | BCKDHA | c.923A>G (p.Asn308Ser) c.857A>G (p.Asn286Ser) n.552A>G c.1025A>G (p.Asn342Ser) c.836A>G (p.Asn279Ser) n.551A>G c.922+1A>G (n.922+1A>G) c.920A>G (p.Asn307Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422698A>T | CA406013404 | BCKDHA | c.923A>T (p.Asn308Ile) c.857A>T (p.Asn286Ile) n.552A>T c.1025A>T (p.Asn342Ile) c.836A>T (p.Asn279Ile) n.551A>T c.922+1A>T (n.922+1A>T) c.920A>T (p.Asn307Ile) | |
19 | g.41422699C>A | CA406013405 | BCKDHA | c.924C>A (p.Asn308Lys) c.858C>A (p.Asn286Lys) n.553C>A c.1026C>A (p.Asn342Lys) c.837C>A (p.Asn279Lys) n.552C>A c.922+2C>A (n.922+2C>A) c.921C>A (p.Asn307Lys) | |
19 | g.41422699C= | CA2336459233 | BCKDHA | c.924C= (p.Asn308=) c.858C= (p.Asn286=) n.553C= c.1026C= (p.Asn342=) c.837C= (p.Asn279=) n.552C= c.922+2C= (n.922+2C=) c.921C= (p.Asn307=) | |
19 | g.41422699C>G | CA406013406 | BCKDHA | c.924C>G (p.Asn308Lys) c.858C>G (p.Asn286Lys) n.553C>G c.1026C>G (p.Asn342Lys) c.837C>G (p.Asn279Lys) n.552C>G c.922+2C>G (n.922+2C>G) c.921C>G (p.Asn307Lys) | |
19 | g.41422699C>T | CA9461302 | BCKDHA | c.924C>T (p.Asn308=) c.858C>T (p.Asn286=) n.553C>T c.1026C>T (p.Asn342=) c.837C>T (p.Asn279=) n.552C>T c.922+2C>T (n.922+2C>T) c.921C>T (p.Asn307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422700G>A | CA9461303 | BCKDHA | c.925G>A (p.Ala309Thr) c.859G>A (p.Ala287Thr) n.554G>A c.1027G>A (p.Ala343Thr) c.838G>A (p.Ala280Thr) n.553G>A c.922+3G>A (n.922+3G>A) c.922G>A (p.Ala308Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.41422700G>C | CA406013407 | BCKDHA | c.925G>C (p.Ala309Pro) c.859G>C (p.Ala287Pro) n.554G>C c.1027G>C (p.Ala343Pro) c.838G>C (p.Ala280Pro) n.553G>C c.922+3G>C (n.922+3G>C) c.922G>C (p.Ala308Pro) | |
19 | g.41422700G= | CA2336459234 | BCKDHA | c.925G= (p.Ala309=) c.859G= (p.Ala287=) n.554G= c.1027G= (p.Ala343=) c.838G= (p.Ala280=) n.553G= c.922+3G= (n.922+3G=) c.922G= (p.Ala308=) | |
19 | g.41422700G>T | CA406013408 | BCKDHA | c.925G>T (p.Ala309Ser) c.859G>T (p.Ala287Ser) n.554G>T c.1027G>T (p.Ala343Ser) c.838G>T (p.Ala280Ser) n.553G>T c.922+3G>T (n.922+3G>T) c.922G>T (p.Ala308Ser) | ClinVar gnomAD v4 |
19 | g.41422701C>A | CA406013409 | BCKDHA | c.926C>A (p.Ala309Asp) c.860C>A (p.Ala287Asp) n.555C>A c.1028C>A (p.Ala343Asp) c.839C>A (p.Ala280Asp) n.554C>A c.922+4C>A (n.922+4C>A) c.923C>A (p.Ala308Asp) | |
19 | g.41422701C>G | CA406013410 | BCKDHA | c.926C>G (p.Ala309Gly) c.860C>G (p.Ala287Gly) n.555C>G c.1028C>G (p.Ala343Gly) c.839C>G (p.Ala280Gly) n.554C>G c.922+4C>G (n.922+4C>G) c.923C>G (p.Ala308Gly) | |
19 | g.41422701C>T | CA406013411 | BCKDHA | c.926C>T (p.Ala309Val) c.860C>T (p.Ala287Val) n.555C>T c.1028C>T (p.Ala343Val) c.839C>T (p.Ala280Val) n.554C>T c.922+4C>T (n.922+4C>T) c.923C>T (p.Ala308Val) | gnomAD v4 |
19 | g.41422702C>A | CA507690726 | BCKDHA | c.927C>A (p.Ala309=) c.861C>A (p.Ala287=) n.556C>A c.1029C>A (p.Ala343=) c.840C>A (p.Ala280=) n.555C>A c.922+5C>A (n.922+5C>A) c.924C>A (p.Ala308=) | |
19 | g.41422702C= | CA2336459235 | BCKDHA | c.927C= (p.Ala309=) c.861C= (p.Ala287=) n.556C= c.1029C= (p.Ala343=) c.840C= (p.Ala280=) n.555C= c.922+5C= (n.922+5C=) c.924C= (p.Ala308=) | |
19 | g.41422702C>G | CA507690727 | BCKDHA | c.927C>G (p.Ala309=) c.861C>G (p.Ala287=) n.556C>G c.1029C>G (p.Ala343=) c.840C>G (p.Ala280=) n.555C>G c.922+5C>G (n.922+5C>G) c.924C>G (p.Ala308=) | |
19 | g.41422702C>T | CA9461304 | BCKDHA | c.927C>T (p.Ala309=) c.861C>T (p.Ala287=) n.556C>T c.1029C>T (p.Ala343=) c.840C>T (p.Ala280=) n.555C>T c.922+5C>T (n.922+5C>T) c.924C>T (p.Ala308=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422703A>C | CA406013412 | BCKDHA | c.928A>C (p.Thr310Pro) c.862A>C (p.Thr288Pro) n.557A>C c.1030A>C (p.Thr344Pro) c.841A>C (p.Thr281Pro) n.556A>C c.922+6A>C (n.922+6A>C) c.925A>C (p.Thr309Pro) | gnomAD v4 |
19 | g.41422703A>G | CA406013414 | BCKDHA | c.928A>G (p.Thr310Ala) c.862A>G (p.Thr288Ala) n.557A>G c.1030A>G (p.Thr344Ala) c.841A>G (p.Thr281Ala) n.556A>G c.922+6A>G (n.922+6A>G) c.925A>G (p.Thr309Ala) | gnomAD v4 |
19 | g.41422703A>T | CA406013413 | BCKDHA | c.928A>T (p.Thr310Ser) c.862A>T (p.Thr288Ser) n.557A>T c.1030A>T (p.Thr344Ser) c.841A>T (p.Thr281Ser) n.556A>T c.922+6A>T (n.922+6A>T) c.925A>T (p.Thr309Ser) | |
19 | g.41422704C>A | CA406013415 | BCKDHA | c.929C>A (p.Thr310Lys) c.863C>A (p.Thr288Lys) n.558C>A c.1031C>A (p.Thr344Lys) c.842C>A (p.Thr281Lys) n.557C>A c.922+7C>A (n.922+7C>A) c.926C>A (p.Thr309Lys) | |
19 | g.41422704C= | CA2336459236 | BCKDHA | c.929C= (p.Thr310=) c.863C= (p.Thr288=) n.558C= c.1031C= (p.Thr344=) c.842C= (p.Thr281=) n.557C= c.922+7C= (n.922+7C=) c.926C= (p.Thr309=) | |
19 | g.41422704C>G | CA115518 | BCKDHA | c.929C>G (p.Thr310Arg) c.863C>G (p.Thr288Arg) n.558C>G c.1031C>G (p.Thr344Arg) c.842C>G (p.Thr281Arg) n.557C>G c.922+7C>G (n.922+7C>G) c.926C>G (p.Thr309Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422704C>T | CA406013416 | BCKDHA | c.929C>T (p.Thr310Ile) c.863C>T (p.Thr288Ile) n.558C>T c.1031C>T (p.Thr344Ile) c.842C>T (p.Thr281Ile) n.557C>T c.922+7C>T (n.922+7C>T) c.926C>T (p.Thr309Ile) | dbSNP gnomAD v4 |
19 | g.41422705A>C | CA507690728 | BCKDHA | c.930A>C (p.Thr310=) c.864A>C (p.Thr288=) n.559A>C c.1032A>C (p.Thr344=) c.843A>C (p.Thr281=) n.558A>C c.922+8A>C (n.922+8A>C) c.927A>C (p.Thr309=) | |
19 | g.41422705A>G | CA507690729 | BCKDHA | c.930A>G (p.Thr310=) c.864A>G (p.Thr288=) n.559A>G c.1032A>G (p.Thr344=) c.843A>G (p.Thr281=) n.558A>G c.922+8A>G (n.922+8A>G) c.927A>G (p.Thr309=) | |
19 | g.41422705A>T | CA507690730 | BCKDHA | c.930A>T (p.Thr310=) c.864A>T (p.Thr288=) n.559A>T c.1032A>T (p.Thr344=) c.843A>T (p.Thr281=) n.558A>T c.922+8A>T (n.922+8A>T) c.927A>T (p.Thr309=) | |
19 | g.41422707dup | CA2841673854 | BCKDHA | c.932dup (p.Glu312GlyfsTer29) c.866dup (p.Glu290GlyfsTer29) n.561dup c.1034dup (p.Glu346GlyfsTer29) c.845dup (p.Glu283GlyfsTer29) n.560dup c.922+10dup (n.922+10dup) c.929dup (p.Glu311GlyfsTer29) | |
19 | g.41422706A= | CA2336459237 | BCKDHA | c.931A= (p.Lys311=) c.865A= (p.Lys289=) n.560A= c.1033A= (p.Lys345=) c.844A= (p.Lys282=) n.559A= c.922+9A= (n.922+9A=) c.928A= (p.Lys310=) | |
19 | g.41422706A>C | CA406013417 | BCKDHA | c.931A>C (p.Lys311Gln) c.865A>C (p.Lys289Gln) n.560A>C c.1033A>C (p.Lys345Gln) c.844A>C (p.Lys282Gln) n.559A>C c.922+9A>C (n.922+9A>C) c.928A>C (p.Lys310Gln) | |
19 | g.41422706A>G | CA406013418 | BCKDHA | c.931A>G (p.Lys311Glu) c.865A>G (p.Lys289Glu) n.560A>G c.1033A>G (p.Lys345Glu) c.844A>G (p.Lys282Glu) n.559A>G c.922+9A>G (n.922+9A>G) c.928A>G (p.Lys310Glu) | gnomAD v4 |
19 | g.41422706A>T | CA406013419 | BCKDHA | c.931A>T (p.Lys311Ter) c.865A>T (p.Lys289Ter) n.560A>T c.1033A>T (p.Lys345Ter) c.844A>T (p.Lys282Ter) n.559A>T c.922+9A>T (n.922+9A>T) c.928A>T (p.Lys310Ter) | ClinVar dbSNP |
19 | g.41422707A= | CA2336459238 | BCKDHA | c.932A= (p.Lys311=) c.866A= (p.Lys289=) n.561A= c.1034A= (p.Lys345=) c.845A= (p.Lys282=) n.560A= c.922+10A= (n.922+10A=) c.929A= (p.Lys310=) | |
19 | g.41422707A>C | CA406013422 | BCKDHA | c.932A>C (p.Lys311Thr) c.866A>C (p.Lys289Thr) n.561A>C c.1034A>C (p.Lys345Thr) c.845A>C (p.Lys282Thr) n.560A>C c.922+10A>C (n.922+10A>C) c.929A>C (p.Lys310Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422707A>G | CA406013420 | BCKDHA | c.932A>G (p.Lys311Arg) c.866A>G (p.Lys289Arg) n.561A>G c.1034A>G (p.Lys345Arg) c.845A>G (p.Lys282Arg) n.560A>G c.922+10A>G (n.922+10A>G) c.929A>G (p.Lys310Arg) | |
19 | g.41422707A>T | CA406013421 | BCKDHA | c.932A>T (p.Lys311Met) c.866A>T (p.Lys289Met) n.561A>T c.1034A>T (p.Lys345Met) c.845A>T (p.Lys282Met) n.560A>T c.922+10A>T (n.922+10A>T) c.929A>T (p.Lys310Met) | |
19 | g.41422708G>A | CA507690731 | BCKDHA | c.933G>A (p.Lys311=) c.867G>A (p.Lys289=) n.562G>A c.1035G>A (p.Lys345=) c.846G>A (p.Lys282=) n.561G>A c.922+11G>A (n.922+11G>A) c.930G>A (p.Lys310=) | |
19 | g.41422708G>C | CA406013423 | BCKDHA | c.933G>C (p.Lys311Asn) c.867G>C (p.Lys289Asn) n.562G>C c.1035G>C (p.Lys345Asn) c.846G>C (p.Lys282Asn) n.561G>C c.922+11G>C (n.922+11G>C) c.930G>C (p.Lys310Asn) | |
19 | g.41422708G>T | CA406013424 | BCKDHA | c.933G>T (p.Lys311Asn) c.867G>T (p.Lys289Asn) n.562G>T c.1035G>T (p.Lys345Asn) c.846G>T (p.Lys282Asn) n.561G>T c.922+11G>T (n.922+11G>T) c.930G>T (p.Lys310Asn) | |
19 | g.41422709del | CA2814427576 | BCKDHA | c.934del (p.Glu312ArgfsTer18) c.868del (p.Glu290ArgfsTer18) n.563del c.1036del (p.Glu346ArgfsTer18) c.847del (p.Glu283ArgfsTer18) n.562del c.922+12del (n.922+12del) c.931del (p.Glu311ArgfsTer18) | |
19 | g.41422709G>A | CA406013425 | BCKDHA | c.934G>A (p.Glu312Lys) c.868G>A (p.Glu290Lys) n.563G>A c.1036G>A (p.Glu346Lys) c.847G>A (p.Glu283Lys) n.562G>A c.922+12G>A (n.922+12G>A) c.931G>A (p.Glu311Lys) | |
19 | g.41422709G>C | CA406013426 | BCKDHA | c.934G>C (p.Glu312Gln) c.868G>C (p.Glu290Gln) n.563G>C c.1036G>C (p.Glu346Gln) c.847G>C (p.Glu283Gln) n.562G>C c.922+12G>C (n.922+12G>C) c.931G>C (p.Glu311Gln) | |
19 | g.41422709G>T | CA406013427 | BCKDHA | c.934G>T (p.Glu312Ter) c.868G>T (p.Glu290Ter) n.563G>T c.1036G>T (p.Glu346Ter) c.847G>T (p.Glu283Ter) n.562G>T c.922+12G>T (n.922+12G>T) c.931G>T (p.Glu311Ter) | |
19 | g.41422710A>C | CA406013428 | BCKDHA | c.935A>C (p.Glu312Ala) c.869A>C (p.Glu290Ala) n.564A>C c.1037A>C (p.Glu346Ala) c.848A>C (p.Glu283Ala) n.563A>C c.922+13A>C (n.922+13A>C) c.932A>C (p.Glu311Ala) | |
19 | g.41422710A>G | CA406013430 | BCKDHA | c.935A>G (p.Glu312Gly) c.869A>G (p.Glu290Gly) n.564A>G c.1037A>G (p.Glu346Gly) c.848A>G (p.Glu283Gly) n.563A>G c.922+13A>G (n.922+13A>G) c.932A>G (p.Glu311Gly) | |
19 | g.41422710A>T | CA406013429 | BCKDHA | c.935A>T (p.Glu312Val) c.869A>T (p.Glu290Val) n.564A>T c.1037A>T (p.Glu346Val) c.848A>T (p.Glu283Val) n.563A>T c.922+13A>T (n.922+13A>T) c.932A>T (p.Glu311Val) | |
19 | g.41422711G>A | CA507690732 | BCKDHA | c.936G>A (p.Glu312=) c.870G>A (p.Glu290=) n.565G>A c.1038G>A (p.Glu346=) c.849G>A (p.Glu283=) n.564G>A c.922+14G>A (n.922+14G>A) c.933G>A (p.Glu311=) | |
19 | g.41422711G>C | CA406013431 | BCKDHA | c.936G>C (p.Glu312Asp) c.870G>C (p.Glu290Asp) n.565G>C c.1038G>C (p.Glu346Asp) c.849G>C (p.Glu283Asp) n.564G>C c.922+14G>C (n.922+14G>C) c.933G>C (p.Glu311Asp) | |
19 | g.41422711G>T | CA406013432 | BCKDHA | c.936G>T (p.Glu312Asp) c.870G>T (p.Glu290Asp) n.565G>T c.1038G>T (p.Glu346Asp) c.849G>T (p.Glu283Asp) n.564G>T c.922+14G>T (n.922+14G>T) c.933G>T (p.Glu311Asp) | |
19 | g.41422712G>A | CA406013433 | BCKDHA | c.937G>A (p.Ala313Thr) c.871G>A (p.Ala291Thr) n.566G>A c.1039G>A (p.Ala347Thr) c.850G>A (p.Ala284Thr) n.565G>A c.922+15G>A (n.922+15G>A) c.934G>A (p.Ala312Thr) | |
19 | g.41422712G>C | CA406013434 | BCKDHA | c.937G>C (p.Ala313Pro) c.871G>C (p.Ala291Pro) n.566G>C c.1039G>C (p.Ala347Pro) c.850G>C (p.Ala284Pro) n.565G>C c.922+15G>C (n.922+15G>C) c.934G>C (p.Ala312Pro) | |
19 | g.41422712G>T | CA406013435 | BCKDHA | c.937G>T (p.Ala313Ser) c.871G>T (p.Ala291Ser) n.566G>T c.1039G>T (p.Ala347Ser) c.850G>T (p.Ala284Ser) n.565G>T c.922+15G>T (n.922+15G>T) c.934G>T (p.Ala312Ser) | |
19 | g.41422713C>A | CA406013436 | BCKDHA | c.938C>A (p.Ala313Asp) c.872C>A (p.Ala291Asp) n.567C>A c.1040C>A (p.Ala347Asp) c.851C>A (p.Ala284Asp) n.566C>A c.922+16C>A (n.922+16C>A) c.935C>A (p.Ala312Asp) | |
19 | g.41422713C>G | CA406013437 | BCKDHA | c.938C>G (p.Ala313Gly) c.872C>G (p.Ala291Gly) n.567C>G c.1040C>G (p.Ala347Gly) c.851C>G (p.Ala284Gly) n.566C>G c.922+16C>G (n.922+16C>G) c.935C>G (p.Ala312Gly) | |
19 | g.41422713C>T | CA406013438 | BCKDHA | c.938C>T (p.Ala313Val) c.872C>T (p.Ala291Val) n.567C>T c.1040C>T (p.Ala347Val) c.851C>T (p.Ala284Val) n.566C>T c.922+16C>T (n.922+16C>T) c.935C>T (p.Ala312Val) | |
19 | g.41422714C>A | CA507690733 | BCKDHA | c.939C>A (p.Ala313=) c.873C>A (p.Ala291=) n.568C>A c.1041C>A (p.Ala347=) c.852C>A (p.Ala284=) n.567C>A c.922+17C>A (n.922+17C>A) c.936C>A (p.Ala312=) | |
19 | g.41422714C= | CA2336459239 | BCKDHA | c.939C= (p.Ala313=) c.873C= (p.Ala291=) n.568C= c.1041C= (p.Ala347=) c.852C= (p.Ala284=) n.567C= c.922+17C= (n.922+17C=) c.936C= (p.Ala312=) | |
19 | g.41422714C>G | CA507690734 | BCKDHA | c.939C>G (p.Ala313=) c.873C>G (p.Ala291=) n.568C>G c.1041C>G (p.Ala347=) c.852C>G (p.Ala284=) n.567C>G c.922+17C>G (n.922+17C>G) c.936C>G (p.Ala312=) | |
19 | g.41422714C>T | CA507690735 | BCKDHA | c.939C>T (p.Ala313=) c.873C>T (p.Ala291=) n.568C>T c.1041C>T (p.Ala347=) c.852C>T (p.Ala284=) n.567C>T c.922+17C>T (n.922+17C>T) c.936C>T (p.Ala312=) | ClinVar dbSNP gnomAD v4 |
19 | g.41422715C>A | CA9461305 | BCKDHA | c.940C>A (p.Arg314=) c.874C>A (p.Arg292=) n.569C>A c.1042C>A (p.Arg348=) c.853C>A (p.Arg285=) n.568C>A c.922+18C>A (n.922+18C>A) c.937C>A (p.Arg313=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422715C= | CA2336459240 | BCKDHA | c.940C= (p.Arg314=) c.874C= (p.Arg292=) n.569C= c.1042C= (p.Arg348=) c.853C= (p.Arg285=) n.568C= c.922+18C= (n.922+18C=) c.937C= (p.Arg313=) | |
19 | g.41422715C>G | CA406013439 | BCKDHA | c.940C>G (p.Arg314Gly) c.874C>G (p.Arg292Gly) n.569C>G c.1042C>G (p.Arg348Gly) c.853C>G (p.Arg285Gly) n.568C>G c.922+18C>G (n.922+18C>G) c.937C>G (p.Arg313Gly) | |
19 | g.41422715C>T | CA354952 | BCKDHA | c.940C>T (p.Arg314Ter) c.874C>T (p.Arg292Ter) n.569C>T c.1042C>T (p.Arg348Ter) c.853C>T (p.Arg285Ter) n.568C>T c.922+18C>T (n.922+18C>T) c.937C>T (p.Arg313Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422716G>A | CA9461306 | BCKDHA | c.941G>A (p.Arg314Gln) c.875G>A (p.Arg292Gln) n.570G>A c.1043G>A (p.Arg348Gln) c.854G>A (p.Arg285Gln) n.569G>A c.922+19G>A (n.922+19G>A) c.938G>A (p.Arg313Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422716G>C | CA406013441 | BCKDHA | c.941G>C (p.Arg314Pro) c.875G>C (p.Arg292Pro) n.570G>C c.1043G>C (p.Arg348Pro) c.854G>C (p.Arg285Pro) n.569G>C c.922+19G>C (n.922+19G>C) c.938G>C (p.Arg313Pro) | |
19 | g.41422716G= | CA2336459242 | BCKDHA | c.941G= (p.Arg314=) c.875G= (p.Arg292=) n.570G= c.1043G= (p.Arg348=) c.854G= (p.Arg285=) n.569G= c.922+19G= (n.922+19G=) c.938G= (p.Arg313=) | |
19 | g.41422716G>T | CA406013440 | BCKDHA | c.941G>T (p.Arg314Leu) c.875G>T (p.Arg292Leu) n.570G>T c.1043G>T (p.Arg348Leu) c.854G>T (p.Arg285Leu) n.569G>T c.922+19G>T (n.922+19G>T) c.938G>T (p.Arg313Leu) | |
19 | g.41422718_41422736dup | CA2336459241 | BCKDHA | c.943_961dup (p.Asn321ThrfsTer26) c.877_895dup (p.Asn299ThrfsTer26) n.572_590dup c.1045_1063dup (p.Asn355ThrfsTer26) c.856_874dup (p.Asn292ThrfsTer26) c.922+21_922+39dup (n.922+21_922+39dup) c.940_958dup (p.Asn320ThrfsTer26) | dbSNP |
19 | g.41422717A>C | CA507690736 | BCKDHA | c.942A>C (p.Arg314=) c.876A>C (p.Arg292=) n.571A>C c.1044A>C (p.Arg348=) c.855A>C (p.Arg285=) n.570A>C c.922+20A>C (n.922+20A>C) c.939A>C (p.Arg313=) | |
19 | g.41422717A>G | CA507690737 | BCKDHA | c.942A>G (p.Arg314=) c.876A>G (p.Arg292=) n.571A>G c.1044A>G (p.Arg348=) c.855A>G (p.Arg285=) n.570A>G c.922+20A>G (n.922+20A>G) c.939A>G (p.Arg313=) | |
19 | g.41422717A>T | CA507690738 | BCKDHA | c.942A>T (p.Arg314=) c.876A>T (p.Arg292=) n.571A>T c.1044A>T (p.Arg348=) c.855A>T (p.Arg285=) n.570A>T c.922+20A>T (n.922+20A>T) c.939A>T (p.Arg313=) | |
19 | g.41422718C>A | CA507690739 | BCKDHA | c.943C>A (p.Arg315=) c.877C>A (p.Arg293=) n.572C>A c.1045C>A (p.Arg349=) c.856C>A (p.Arg286=) n.571C>A c.922+21C>A (n.922+21C>A) c.940C>A (p.Arg314=) | |
19 | g.41422718C= | CA2336459243 | BCKDHA | c.943C= (p.Arg315=) c.877C= (p.Arg293=) n.572C= c.1045C= (p.Arg349=) c.856C= (p.Arg286=) n.571C= c.922+21C= (n.922+21C=) c.940C= (p.Arg314=) | |
19 | g.41422718C>G | CA406013442 | BCKDHA | c.943C>G (p.Arg315Gly) c.877C>G (p.Arg293Gly) n.572C>G c.1045C>G (p.Arg349Gly) c.856C>G (p.Arg286Gly) n.571C>G c.922+21C>G (n.922+21C>G) c.940C>G (p.Arg314Gly) | |
19 | g.41422718C>T | CA9461307 | BCKDHA | c.943C>T (p.Arg315Trp) c.877C>T (p.Arg293Trp) n.572C>T c.1045C>T (p.Arg349Trp) c.856C>T (p.Arg286Trp) n.571C>T c.922+21C>T (n.922+21C>T) c.940C>T (p.Arg314Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41422719G>A | CA308524844 | BCKDHA | c.944G>A (p.Arg315Gln) c.878G>A (p.Arg293Gln) n.573G>A c.1046G>A (p.Arg349Gln) c.857G>A (p.Arg286Gln) n.572G>A c.922+22G>A (n.922+22G>A) c.941G>A (p.Arg314Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41422719G>C | CA406013443 | BCKDHA | c.944G>C (p.Arg315Pro) c.878G>C (p.Arg293Pro) n.573G>C c.1046G>C (p.Arg349Pro) c.857G>C (p.Arg286Pro) n.572G>C c.922+22G>C (n.922+22G>C) c.941G>C (p.Arg314Pro) | |
19 | g.41422719G= | CA2336459244 | BCKDHA | c.944G= (p.Arg315=) c.878G= (p.Arg293=) n.573G= c.1046G= (p.Arg349=) c.857G= (p.Arg286=) n.572G= c.922+22G= (n.922+22G=) c.941G= (p.Arg314=) | |
19 | g.41422719G>T | CA406013444 | BCKDHA | c.944G>T (p.Arg315Leu) c.878G>T (p.Arg293Leu) n.573G>T c.1046G>T (p.Arg349Leu) c.857G>T (p.Arg286Leu) n.572G>T c.922+22G>T (n.922+22G>T) c.941G>T (p.Arg314Leu) | |
19 | g.41422722_41422731del | CA2695228768 | BCKDHA | c.947_956del (p.Arg316GlnfsTer11) c.881_890del (p.Arg294GlnfsTer11) n.576_585del c.1049_1058del (p.Arg350GlnfsTer11) c.860_869del (p.Arg287GlnfsTer11) n.575_584del c.922+25_922+34del (n.922+25_922+34del) c.944_953del (p.Arg315GlnfsTer11) | |
19 | g.41422720G>A | CA507690740 | BCKDHA | c.945G>A (p.Arg315=) c.879G>A (p.Arg293=) n.574G>A c.1047G>A (p.Arg349=) c.858G>A (p.Arg286=) n.573G>A c.922+23G>A (n.922+23G>A) c.942G>A (p.Arg314=) | |
19 | g.41422720G>C | CA507690741 | BCKDHA | c.945G>C (p.Arg315=) c.879G>C (p.Arg293=) n.574G>C c.1047G>C (p.Arg349=) c.858G>C (p.Arg286=) n.573G>C c.922+23G>C (n.922+23G>C) c.942G>C (p.Arg314=) | |
19 | g.41422720G>T | CA507690742 | BCKDHA | c.945G>T (p.Arg315=) c.879G>T (p.Arg293=) n.574G>T c.1047G>T (p.Arg349=) c.858G>T (p.Arg286=) n.573G>T c.922+23G>T (n.922+23G>T) c.942G>T (p.Arg314=) | |
19 | g.41422721C>A | CA507690743 | BCKDHA | c.946C>A (p.Arg316=) c.880C>A (p.Arg294=) n.575C>A c.1048C>A (p.Arg350=) c.859C>A (p.Arg287=) n.574C>A c.922+24C>A (n.922+24C>A) c.943C>A (p.Arg315=) | |
19 | g.41422721C= | CA2336459245 | BCKDHA | c.946C= (p.Arg316=) c.880C= (p.Arg294=) n.575C= c.1048C= (p.Arg350=) c.859C= (p.Arg287=) n.574C= c.922+24C= (n.922+24C=) c.943C= (p.Arg315=) | |
19 | g.41422721C>G | CA406013445 | BCKDHA | c.946C>G (p.Arg316Gly) c.880C>G (p.Arg294Gly) n.575C>G c.1048C>G (p.Arg350Gly) c.859C>G (p.Arg287Gly) n.574C>G c.922+24C>G (n.922+24C>G) c.943C>G (p.Arg315Gly) | |
19 | g.41422721C>T | CA9461308 | BCKDHA | c.946C>T (p.Arg316Trp) c.880C>T (p.Arg294Trp) n.575C>T c.1048C>T (p.Arg350Trp) c.859C>T (p.Arg287Trp) n.574C>T c.922+24C>T (n.922+24C>T) c.943C>T (p.Arg315Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41422722G>A | CA406013446 | BCKDHA | c.947G>A (p.Arg316Gln) c.881G>A (p.Arg294Gln) n.576G>A c.1049G>A (p.Arg350Gln) c.860G>A (p.Arg287Gln) n.575G>A c.922+25G>A (n.922+25G>A) c.944G>A (p.Arg315Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422722G>C | CA406013447 | BCKDHA | c.947G>C (p.Arg316Pro) c.881G>C (p.Arg294Pro) n.576G>C c.1049G>C (p.Arg350Pro) c.860G>C (p.Arg287Pro) n.575G>C c.922+25G>C (n.922+25G>C) c.944G>C (p.Arg315Pro) | |
19 | g.41422722G= | CA2336459246 | BCKDHA | c.947G= (p.Arg316=) c.881G= (p.Arg294=) n.576G= c.1049G= (p.Arg350=) c.860G= (p.Arg287=) n.575G= c.922+25G= (n.922+25G=) c.944G= (p.Arg315=) | |
19 | g.41422722G>T | CA308524861 | BCKDHA | c.947G>T (p.Arg316Leu) c.881G>T (p.Arg294Leu) n.576G>T c.1049G>T (p.Arg350Leu) c.860G>T (p.Arg287Leu) n.575G>T c.922+25G>T (n.922+25G>T) c.944G>T (p.Arg315Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422723G>A | CA507690744 | BCKDHA | c.948G>A (p.Arg316=) c.882G>A (p.Arg294=) n.577G>A c.1050G>A (p.Arg350=) c.861G>A (p.Arg287=) n.576G>A c.922+26G>A (n.922+26G>A) c.945G>A (p.Arg315=) | |
19 | g.41422723G>C | CA507690745 | BCKDHA | c.948G>C (p.Arg316=) c.882G>C (p.Arg294=) n.577G>C c.1050G>C (p.Arg350=) c.861G>C (p.Arg287=) n.576G>C c.922+26G>C (n.922+26G>C) c.945G>C (p.Arg315=) | |
19 | g.41422723G= | CA2336459247 | BCKDHA | c.948G= (p.Arg316=) c.882G= (p.Arg294=) n.577G= c.1050G= (p.Arg350=) c.861G= (p.Arg287=) n.576G= c.922+26G= (n.922+26G=) c.945G= (p.Arg315=) | |
19 | g.41422723G>T | CA308524875 | BCKDHA | c.948G>T (p.Arg316=) c.882G>T (p.Arg294=) n.577G>T c.1050G>T (p.Arg350=) c.861G>T (p.Arg287=) n.576G>T c.922+26G>T (n.922+26G>T) c.945G>T (p.Arg315=) | dbSNP |
19 | g.41422724G>A | CA406013448 | BCKDHA | c.949G>A (p.Ala317Thr) c.883G>A (p.Ala295Thr) n.578G>A c.1051G>A (p.Ala351Thr) c.862G>A (p.Ala288Thr) n.577G>A c.922+27G>A (n.922+27G>A) c.946G>A (p.Ala316Thr) | |
19 | g.41422724G>C | CA406013449 | BCKDHA | c.949G>C (p.Ala317Pro) c.883G>C (p.Ala295Pro) n.578G>C c.1051G>C (p.Ala351Pro) c.862G>C (p.Ala288Pro) n.577G>C c.922+27G>C (n.922+27G>C) c.946G>C (p.Ala316Pro) | |
19 | g.41422724G= | CA2336459248 | BCKDHA | c.949G= (p.Ala317=) c.883G= (p.Ala295=) n.578G= c.1051G= (p.Ala351=) c.862G= (p.Ala288=) n.577G= c.922+27G= (n.922+27G=) c.946G= (p.Ala316=) | |
19 | g.41422724G>T | CA406013450 | BCKDHA | c.949G>T (p.Ala317Ser) c.883G>T (p.Ala295Ser) n.578G>T c.1051G>T (p.Ala351Ser) c.862G>T (p.Ala288Ser) n.577G>T c.922+27G>T (n.922+27G>T) c.946G>T (p.Ala316Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422725C>A | CA406013452 | BCKDHA | c.950C>A (p.Ala317Asp) c.884C>A (p.Ala295Asp) n.579C>A c.1052C>A (p.Ala351Asp) c.863C>A (p.Ala288Asp) n.578C>A c.922+28C>A (n.922+28C>A) c.947C>A (p.Ala316Asp) | |
19 | g.41422725C= | CA2336459249 | BCKDHA | c.950C= (p.Ala317=) c.884C= (p.Ala295=) n.579C= c.1052C= (p.Ala351=) c.863C= (p.Ala288=) n.578C= c.922+28C= (n.922+28C=) c.947C= (p.Ala316=) | |
19 | g.41422725C>G | CA308524880 | BCKDHA | c.950C>G (p.Ala317Gly) c.884C>G (p.Ala295Gly) n.579C>G c.1052C>G (p.Ala351Gly) c.863C>G (p.Ala288Gly) n.578C>G c.922+28C>G (n.922+28C>G) c.947C>G (p.Ala316Gly) | dbSNP gnomAD v4 |
19 | g.41422725C>T | CA406013451 | BCKDHA | c.950C>T (p.Ala317Val) c.884C>T (p.Ala295Val) n.579C>T c.1052C>T (p.Ala351Val) c.863C>T (p.Ala288Val) n.578C>T c.922+28C>T (n.922+28C>T) c.947C>T (p.Ala316Val) | |
19 | g.41422726T>A | CA507690746 | BCKDHA | c.951T>A (p.Ala317=) c.885T>A (p.Ala295=) n.580T>A c.1053T>A (p.Ala351=) c.864T>A (p.Ala288=) n.579T>A c.922+29T>A (n.922+29T>A) c.948T>A (p.Ala316=) | |
19 | g.41422726T>C | CA507690747 | BCKDHA | c.951T>C (p.Ala317=) c.885T>C (p.Ala295=) n.580T>C c.1053T>C (p.Ala351=) c.864T>C (p.Ala288=) n.579T>C c.922+29T>C (n.922+29T>C) c.948T>C (p.Ala316=) | |
19 | g.41422726T>G | CA507690748 | BCKDHA | c.951T>G (p.Ala317=) c.885T>G (p.Ala295=) n.580T>G c.1053T>G (p.Ala351=) c.864T>G (p.Ala288=) n.579T>G c.922+29T>G (n.922+29T>G) c.948T>G (p.Ala316=) | |
19 | g.41422727G>A | CA406013453 | BCKDHA | c.952G>A (p.Val318Met) c.886G>A (p.Val296Met) n.581G>A c.1054G>A (p.Val352Met) c.865G>A (p.Val289Met) n.580G>A c.922+30G>A (n.922+30G>A) c.949G>A (p.Val317Met) | gnomAD v4 |
19 | g.41422727G>C | CA406013454 | BCKDHA | c.952G>C (p.Val318Leu) c.886G>C (p.Val296Leu) n.581G>C c.1054G>C (p.Val352Leu) c.865G>C (p.Val289Leu) n.580G>C c.922+30G>C (n.922+30G>C) c.949G>C (p.Val317Leu) | |
19 | g.41422727G>T | CA406013455 | BCKDHA | c.952G>T (p.Val318Leu) c.886G>T (p.Val296Leu) n.581G>T c.1054G>T (p.Val352Leu) c.865G>T (p.Val289Leu) n.580G>T c.922+30G>T (n.922+30G>T) c.949G>T (p.Val317Leu) | |
19 | g.41422728T>A | CA406013456 | BCKDHA | c.953T>A (p.Val318Glu) c.887T>A (p.Val296Glu) n.582T>A c.1055T>A (p.Val352Glu) c.866T>A (p.Val289Glu) n.581T>A c.922+31T>A (n.922+31T>A) c.950T>A (p.Val317Glu) | |
19 | g.41422728T>C | CA406013457 | BCKDHA | c.953T>C (p.Val318Ala) c.887T>C (p.Val296Ala) n.582T>C c.1055T>C (p.Val352Ala) c.866T>C (p.Val289Ala) n.581T>C c.922+31T>C (n.922+31T>C) c.950T>C (p.Val317Ala) | |
19 | g.41422728T>G | CA406013458 | BCKDHA | c.953T>G (p.Val318Gly) c.887T>G (p.Val296Gly) n.582T>G c.1055T>G (p.Val352Gly) c.866T>G (p.Val289Gly) n.581T>G c.922+31T>G (n.922+31T>G) c.950T>G (p.Val317Gly) | |
19 | g.41422729G>A | CA507690750 | BCKDHA | c.954G>A (p.Val318=) c.888G>A (p.Val296=) n.583G>A c.1056G>A (p.Val352=) c.867G>A (p.Val289=) n.582G>A c.922+32G>A (n.922+32G>A) c.951G>A (p.Val317=) | |
19 | g.41422729G>C | CA507690751 | BCKDHA | c.954G>C (p.Val318=) c.888G>C (p.Val296=) n.583G>C c.1056G>C (p.Val352=) c.867G>C (p.Val289=) n.582G>C c.922+32G>C (n.922+32G>C) c.951G>C (p.Val317=) | |
19 | g.41422729G>T | CA507690749 | BCKDHA | c.954G>T (p.Val318=) c.888G>T (p.Val296=) n.583G>T c.1056G>T (p.Val352=) c.867G>T (p.Val289=) n.582G>T c.922+32G>T (n.922+32G>T) c.951G>T (p.Val317=) | |
19 | g.41422730del | CA2580097305 | BCKDHA | c.955del (p.Ala319GlnfsTer11) c.889del (p.Ala297GlnfsTer11) n.584del c.1057del (p.Ala353GlnfsTer11) c.868del (p.Ala290GlnfsTer11) n.583del c.922+33del (n.922+33del) c.952del (p.Ala318GlnfsTer11) | ClinVar |
19 | g.41422730G>A | CA406013459 | BCKDHA | c.955G>A (p.Ala319Thr) c.889G>A (p.Ala297Thr) n.584G>A c.1057G>A (p.Ala353Thr) c.868G>A (p.Ala290Thr) n.583G>A c.922+33G>A (n.922+33G>A) c.952G>A (p.Ala318Thr) | dbSNP gnomAD v2 |
19 | g.41422730G>C | CA406013460 | BCKDHA | c.955G>C (p.Ala319Pro) c.889G>C (p.Ala297Pro) n.584G>C c.1057G>C (p.Ala353Pro) c.868G>C (p.Ala290Pro) n.583G>C c.922+33G>C (n.922+33G>C) c.952G>C (p.Ala318Pro) | |
19 | g.41422730G= | CA2336459250 | BCKDHA | c.955G= (p.Ala319=) c.889G= (p.Ala297=) n.584G= c.1057G= (p.Ala353=) c.868G= (p.Ala290=) n.583G= c.922+33G= (n.922+33G=) c.952G= (p.Ala318=) | |
19 | g.41422730G>T | CA406013461 | BCKDHA | c.955G>T (p.Ala319Ser) c.889G>T (p.Ala297Ser) n.584G>T c.1057G>T (p.Ala353Ser) c.868G>T (p.Ala290Ser) n.583G>T c.922+33G>T (n.922+33G>T) c.952G>T (p.Ala318Ser) | |
19 | g.41422731C>A | CA406013462 | BCKDHA | c.956C>A (p.Ala319Glu) c.890C>A (p.Ala297Glu) n.585C>A c.1058C>A (p.Ala353Glu) c.869C>A (p.Ala290Glu) n.584C>A c.922+34C>A (n.922+34C>A) c.953C>A (p.Ala318Glu) | |
19 | g.41422731C>G | CA406013463 | BCKDHA | c.956C>G (p.Ala319Gly) c.890C>G (p.Ala297Gly) n.585C>G c.1058C>G (p.Ala353Gly) c.869C>G (p.Ala290Gly) n.584C>G c.922+34C>G (n.922+34C>G) c.953C>G (p.Ala318Gly) | |
19 | g.41422731C>T | CA406013464 | BCKDHA | c.956C>T (p.Ala319Val) c.890C>T (p.Ala297Val) n.585C>T c.1058C>T (p.Ala353Val) c.869C>T (p.Ala290Val) n.584C>T c.922+34C>T (n.922+34C>T) c.953C>T (p.Ala318Val) | |
19 | g.41422732A>C | CA507690752 | BCKDHA | c.957A>C (p.Ala319=) c.891A>C (p.Ala297=) n.586A>C c.1059A>C (p.Ala353=) c.870A>C (p.Ala290=) n.585A>C c.922+35A>C (n.922+35A>C) c.954A>C (p.Ala318=) | |
19 | g.41422732A>G | CA507690753 | BCKDHA | c.957A>G (p.Ala319=) c.891A>G (p.Ala297=) n.586A>G c.1059A>G (p.Ala353=) c.870A>G (p.Ala290=) n.585A>G c.922+35A>G (n.922+35A>G) c.954A>G (p.Ala318=) | |
19 | g.41422732A>T | CA507690754 | BCKDHA | c.957A>T (p.Ala319=) c.891A>T (p.Ala297=) n.586A>T c.1059A>T (p.Ala353=) c.870A>T (p.Ala290=) n.585A>T c.922+35A>T (n.922+35A>T) c.954A>T (p.Ala318=) | |
19 | g.41422735_41422736del | CA2841673855 | BCKDHA | c.960_961del (p.Asn321ProfsTer19) c.894_895del (p.Asn299ProfsTer19) n.589_590del c.1062_1063del (p.Asn355ProfsTer19) c.873_874del (p.Asn292ProfsTer19) c.922+38_922+39del (n.922+38_922+39del) c.957_958del (p.Asn320ProfsTer19) | |
19 | g.41422733G>A | CA9461309 | BCKDHA | c.958G>A (p.Glu320Lys) c.892G>A (p.Glu298Lys) n.587G>A c.1060G>A (p.Glu354Lys) c.871G>A (p.Glu291Lys) n.586G>A c.922+36G>A (n.922+36G>A) c.955G>A (p.Glu319Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422733G>C | CA406013466 | BCKDHA | c.958G>C (p.Glu320Gln) c.892G>C (p.Glu298Gln) n.587G>C c.1060G>C (p.Glu354Gln) c.871G>C (p.Glu291Gln) n.586G>C c.922+36G>C (n.922+36G>C) c.955G>C (p.Glu319Gln) | |
19 | g.41422733G= | CA2336459251 | BCKDHA | c.958G= (p.Glu320=) c.892G= (p.Glu298=) n.587G= c.1060G= (p.Glu354=) c.871G= (p.Glu291=) n.586G= c.922+36G= (n.922+36G=) c.955G= (p.Glu319=) | |
19 | g.41422733G>T | CA406013465 | BCKDHA | c.958G>T (p.Glu320Ter) c.892G>T (p.Glu298Ter) n.587G>T c.1060G>T (p.Glu354Ter) c.871G>T (p.Glu291Ter) n.586G>T c.922+36G>T (n.922+36G>T) c.955G>T (p.Glu319Ter) | gnomAD v4 |