| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422175_41422179delinsGCGTA | CA2336458982 | BCKDHA | c.658_662delinsGCGTA (p.Ala220=) c.592_596delinsGCGTA (p.Ala198=) n.287_291delinsGCGTA n.784_788delinsGCGTA c.760_764delinsGCGTA (p.Ala254=) c.558_562delinsGCGTA c.571_575delinsGCGTA (p.Ala191=) n.286_290delinsGCGTA | |
| 19 | g.41422176del | CA2580097290 | BCKDHA | c.659del (p.Ala220GlyfsTer?) c.593del (p.Ala198GlyfsTer?) n.288del n.785del c.761del (p.Ala254GlyfsTer?) c.559del c.572del (p.Ala191GlyfsTer?) n.287del | ClinVar |
| 19 | g.41422176C>A | CA406012680 | BCKDHA | c.659C>A (p.Ala220Glu) c.593C>A (p.Ala198Glu) n.288C>A n.785C>A c.761C>A (p.Ala254Glu) c.559C>A c.572C>A (p.Ala191Glu) n.287C>A | |
| 19 | g.41422176C= | CA2336458983 | BCKDHA | c.659C= (p.Ala220=) c.593C= (p.Ala198=) n.288C= n.785C= c.761C= (p.Ala254=) c.559C= c.572C= (p.Ala191=) n.287C= | |
| 19 | g.41422176C>G | CA406012681 | BCKDHA | c.659C>G (p.Ala220Gly) c.593C>G (p.Ala198Gly) n.288C>G n.785C>G c.761C>G (p.Ala254Gly) c.559C>G c.572C>G (p.Ala191Gly) n.287C>G | |
| 19 | g.41422176C>T | CA221207 | BCKDHA | c.659C>T (p.Ala220Val) c.593C>T (p.Ala198Val) n.288C>T n.785C>T c.761C>T (p.Ala254Val) c.559C>T c.572C>T (p.Ala191Val) n.287C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422178_41422181del | CA312364 | BCKDHA | c.661_664del (p.Tyr221GlnfsTer?) c.595_598del (p.Tyr199GlnfsTer?) n.290_293del n.787_790del c.763_766del (p.Tyr255GlnfsTer?) c.561_564del c.574_577del (p.Tyr192GlnfsTer?) n.289_292del | ClinVar dbSNP gnomAD v4 |
| 19 | g.41422177G>A | CA9461236 | BCKDHA | c.660G>A (p.Ala220=) c.594G>A (p.Ala198=) n.289G>A n.786G>A c.762G>A (p.Ala254=) c.560G>A c.573G>A (p.Ala191=) n.288G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422177G>C | CA507690318 | BCKDHA | c.660G>C (p.Ala220=) c.594G>C (p.Ala198=) n.289G>C n.786G>C c.762G>C (p.Ala254=) c.560G>C c.573G>C (p.Ala191=) n.288G>C | |
| 19 | g.41422177G= | CA2336458984 | BCKDHA | c.660G= (p.Ala220=) c.594G= (p.Ala198=) n.289G= n.786G= c.762G= (p.Ala254=) c.560G= c.573G= (p.Ala191=) n.288G= | |
| 19 | g.41422177G>T | CA507690317 | BCKDHA | c.660G>T (p.Ala220=) c.594G>T (p.Ala198=) n.289G>T n.786G>T c.762G>T (p.Ala254=) c.560G>T c.573G>T (p.Ala191=) n.288G>T | |
| 19 | g.41422178T>A | CA406012683 | BCKDHA | c.661T>A (p.Tyr221Asn) c.595T>A (p.Tyr199Asn) n.290T>A n.787T>A c.763T>A (p.Tyr255Asn) c.561T>A c.574T>A (p.Tyr192Asn) n.289T>A | gnomAD v4 |
| 19 | g.41422178T>C | CA9461237 | BCKDHA | c.661T>C (p.Tyr221His) c.595T>C (p.Tyr199His) n.290T>C n.787T>C c.763T>C (p.Tyr255His) c.561T>C c.574T>C (p.Tyr192His) n.289T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41422178T>G | CA406012682 | BCKDHA | c.661T>G (p.Tyr221Asp) c.595T>G (p.Tyr199Asp) n.290T>G n.787T>G c.763T>G (p.Tyr255Asp) c.561T>G c.574T>G (p.Tyr192Asp) n.289T>G | |
| 19 | g.41422178T= | CA2336458985 | BCKDHA | c.661T= (p.Tyr221=) c.595T= (p.Tyr199=) n.290T= n.787T= c.763T= (p.Tyr255=) c.561T= c.574T= (p.Tyr192=) n.289T= | |
| 19 | g.41422179A>C | CA406012684 | BCKDHA | c.662A>C (p.Tyr221Ser) c.596A>C (p.Tyr199Ser) n.291A>C n.788A>C c.764A>C (p.Tyr255Ser) c.562A>C c.575A>C (p.Tyr192Ser) n.290A>C | |
| 19 | g.41422179A>G | CA406012685 | BCKDHA | c.662A>G (p.Tyr221Cys) c.596A>G (p.Tyr199Cys) n.291A>G n.788A>G c.764A>G (p.Tyr255Cys) c.562A>G c.575A>G (p.Tyr192Cys) n.290A>G | |
| 19 | g.41422179A>T | CA406012686 | BCKDHA | c.662A>T (p.Tyr221Phe) c.596A>T (p.Tyr199Phe) n.291A>T n.788A>T c.764A>T (p.Tyr255Phe) c.562A>T c.575A>T (p.Tyr192Phe) n.290A>T | |
| 19 | g.41422180del | CA2573156391 | BCKDHA | c.663del (p.Tyr221Ter) c.597del (p.Tyr199Ter) n.292del n.789del c.765del (p.Tyr255Ter) c.563del c.576del (p.Tyr192Ter) n.291del | ClinVar dbSNP |
| 19 | g.41422180C>A | CA406012687 | BCKDHA | c.663C>A (p.Tyr221Ter) c.597C>A (p.Tyr199Ter) n.292C>A n.789C>A c.765C>A (p.Tyr255Ter) c.563C>A c.576C>A (p.Tyr192Ter) n.291C>A | |
| 19 | g.41422180C= | CA2336458986 | BCKDHA | c.663C= (p.Tyr221=) c.597C= (p.Tyr199=) n.292C= n.789C= c.765C= (p.Tyr255=) c.563C= c.576C= (p.Tyr192=) n.291C= | |
| 19 | g.41422180C>G | CA406012688 | BCKDHA | c.663C>G (p.Tyr221Ter) c.597C>G (p.Tyr199Ter) n.292C>G n.789C>G c.765C>G (p.Tyr255Ter) c.563C>G c.576C>G (p.Tyr192Ter) n.291C>G | gnomAD v4 |
| 19 | g.41422180C>T | CA221208 | BCKDHA | c.663C>T (p.Tyr221=) c.597C>T (p.Tyr199=) n.292C>T n.789C>T c.765C>T (p.Tyr255=) c.563C>T c.576C>T (p.Tyr192=) n.291C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422181G>A | CA9461238 | BCKDHA | c.664G>A (p.Ala222Thr) c.598G>A (p.Ala200Thr) n.293G>A n.790G>A c.766G>A (p.Ala256Thr) c.564G>A c.577G>A (p.Ala193Thr) n.292G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422181G>C | CA406012689 | BCKDHA | c.664G>C (p.Ala222Pro) c.598G>C (p.Ala200Pro) n.293G>C n.790G>C c.766G>C (p.Ala256Pro) c.564G>C c.577G>C (p.Ala193Pro) n.292G>C | |
| 19 | g.41422181G= | CA2336458987 | BCKDHA | c.664G= (p.Ala222=) c.598G= (p.Ala200=) n.293G= n.790G= c.766G= (p.Ala256=) c.564G= c.577G= (p.Ala193=) n.292G= | |
| 19 | g.41422181G>T | CA406012690 | BCKDHA | c.664G>T (p.Ala222Ser) c.598G>T (p.Ala200Ser) n.293G>T n.790G>T c.766G>T (p.Ala256Ser) c.564G>T c.577G>T (p.Ala193Ser) n.292G>T | |
| 19 | g.41422182C>A | CA406012691 | BCKDHA | c.665C>A (p.Ala222Glu) c.599C>A (p.Ala200Glu) n.294C>A n.791C>A c.767C>A (p.Ala256Glu) c.565C>A c.578C>A (p.Ala193Glu) n.293C>A | |
| 19 | g.41422182C>G | CA406012692 | BCKDHA | c.665C>G (p.Ala222Gly) c.599C>G (p.Ala200Gly) n.294C>G n.791C>G c.767C>G (p.Ala256Gly) c.565C>G c.578C>G (p.Ala193Gly) n.293C>G | |
| 19 | g.41422182C>T | CA406012693 | BCKDHA | c.665C>T (p.Ala222Val) c.599C>T (p.Ala200Val) n.294C>T n.791C>T c.767C>T (p.Ala256Val) c.565C>T c.578C>T (p.Ala193Val) n.293C>T | |
| 19 | g.41422183A>C | CA507690329 | BCKDHA | c.666A>C (p.Ala222=) c.600A>C (p.Ala200=) n.295A>C n.792A>C c.768A>C (p.Ala256=) c.566A>C c.579A>C (p.Ala193=) n.294A>C | |
| 19 | g.41422183A>G | CA507690331 | BCKDHA | c.666A>G (p.Ala222=) c.600A>G (p.Ala200=) n.295A>G n.792A>G c.768A>G (p.Ala256=) c.566A>G c.579A>G (p.Ala193=) n.294A>G | |
| 19 | g.41422183A>T | CA507690333 | BCKDHA | c.666A>T (p.Ala222=) c.600A>T (p.Ala200=) n.295A>T n.792A>T c.768A>T (p.Ala256=) c.566A>T c.579A>T (p.Ala193=) n.294A>T | |
| 19 | g.41422184G>A | CA406012695 | BCKDHA | c.667G>A (p.Ala223Thr) c.601G>A (p.Ala201Thr) n.296G>A n.793G>A c.769G>A (p.Ala257Thr) c.567G>A c.580G>A (p.Ala194Thr) n.295G>A | |
| 19 | g.41422184G>C | CA406012696 | BCKDHA | c.667G>C (p.Ala223Pro) c.601G>C (p.Ala201Pro) n.296G>C n.793G>C c.769G>C (p.Ala257Pro) c.567G>C c.580G>C (p.Ala194Pro) n.295G>C | |
| 19 | g.41422184G>T | CA406012694 | BCKDHA | c.667G>T (p.Ala223Ser) c.601G>T (p.Ala201Ser) n.296G>T n.793G>T c.769G>T (p.Ala257Ser) c.567G>T c.580G>T (p.Ala194Ser) n.295G>T | |
| 19 | g.41422185C>A | CA406012697 | BCKDHA | c.668C>A (p.Ala223Asp) c.602C>A (p.Ala201Asp) n.297C>A n.794C>A c.770C>A (p.Ala257Asp) c.568C>A c.581C>A (p.Ala194Asp) n.296C>A | |
| 19 | g.41422185C>G | CA406012699 | BCKDHA | c.668C>G (p.Ala223Gly) c.602C>G (p.Ala201Gly) n.297C>G n.794C>G c.770C>G (p.Ala257Gly) c.568C>G c.581C>G (p.Ala194Gly) n.296C>G | |
| 19 | g.41422185C>T | CA406012698 | BCKDHA | c.668C>T (p.Ala223Val) c.602C>T (p.Ala201Val) n.297C>T n.794C>T c.770C>T (p.Ala257Val) c.568C>T c.581C>T (p.Ala194Val) n.296C>T | |
| 19 | g.41422186C>A | CA507690341 | BCKDHA | c.669C>A (p.Ala223=) c.603C>A (p.Ala201=) n.298C>A n.795C>A c.771C>A (p.Ala257=) c.569C>A c.582C>A (p.Ala194=) n.297C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41422186C= | CA2336458988 | BCKDHA | c.669C= (p.Ala223=) c.603C= (p.Ala201=) n.298C= n.795C= c.771C= (p.Ala257=) c.569C= c.582C= (p.Ala194=) n.297C= | |
| 19 | g.41422186C>G | CA507690342 | BCKDHA | c.669C>G (p.Ala223=) c.603C>G (p.Ala201=) n.298C>G n.795C>G c.771C>G (p.Ala257=) c.569C>G c.582C>G (p.Ala194=) n.297C>G | |
| 19 | g.41422186C>T | CA507690340 | BCKDHA | c.669C>T (p.Ala223=) c.603C>T (p.Ala201=) n.298C>T n.795C>T c.771C>T (p.Ala257=) c.569C>T c.582C>T (p.Ala194=) n.297C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422187A= | CA2336458989 | BCKDHA | c.670A= (p.Lys224=) c.604A= (p.Lys202=) n.299A= n.796A= c.772A= (p.Lys258=) c.570A= c.583A= (p.Lys195=) n.298A= | |
| 19 | g.41422187A>C | CA406012700 | BCKDHA | c.670A>C (p.Lys224Gln) c.604A>C (p.Lys202Gln) n.299A>C n.796A>C c.772A>C (p.Lys258Gln) c.570A>C c.583A>C (p.Lys195Gln) n.298A>C | |
| 19 | g.41422187A>G | CA406012701 | BCKDHA | c.670A>G (p.Lys224Glu) c.604A>G (p.Lys202Glu) n.299A>G n.796A>G c.772A>G (p.Lys258Glu) c.570A>G c.583A>G (p.Lys195Glu) n.298A>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41422187A>T | CA406012702 | BCKDHA | c.670A>T (p.Lys224Ter) c.604A>T (p.Lys202Ter) n.299A>T n.796A>T c.772A>T (p.Lys258Ter) c.570A>T c.583A>T (p.Lys195Ter) n.298A>T | |
| 19 | g.41422188A= | CA2336458990 | BCKDHA | c.671A= (p.Lys224=) c.605A= (p.Lys202=) n.300A= n.797A= c.773A= (p.Lys258=) c.571A= c.584A= (p.Lys195=) n.299A= | |
| 19 | g.41422188A>C | CA406012703 | BCKDHA | c.671A>C (p.Lys224Thr) c.605A>C (p.Lys202Thr) n.300A>C n.797A>C c.773A>C (p.Lys258Thr) c.571A>C c.584A>C (p.Lys195Thr) n.299A>C | dbSNP gnomAD v4 |
| 19 | g.41422188A>G | CA406012704 | BCKDHA | c.671A>G (p.Lys224Arg) c.605A>G (p.Lys202Arg) n.300A>G n.797A>G c.773A>G (p.Lys258Arg) c.571A>G c.584A>G (p.Lys195Arg) n.299A>G |