| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422211_41422213del | CA2585307993 | BCKDHA | c.694_696del (p.Val232del) c.628_630del (p.Val210del) n.323_325del c.796_798del (p.Val266del) c.594_596del c.607_609del (p.Val203del) n.322_324del | gnomAD v4 |
| 19 | g.41422210C>A | CA507690408 | BCKDHA | c.693C>A (p.Val231=) c.627C>A (p.Val209=) n.322C>A c.795C>A (p.Val265=) c.593C>A c.606C>A (p.Val202=) n.321C>A | |
| 19 | g.41422210C= | CA2336459005 | BCKDHA | c.693C= (p.Val231=) c.627C= (p.Val209=) n.322C= c.795C= (p.Val265=) c.593C= c.606C= (p.Val202=) n.321C= | |
| 19 | g.41422210C>G | CA507690411 | BCKDHA | c.693C>G (p.Val231=) c.627C>G (p.Val209=) n.322C>G c.795C>G (p.Val265=) c.593C>G c.606C>G (p.Val202=) n.321C>G | gnomAD v4 |
| 19 | g.41422210C>T | CA9461245 | BCKDHA | c.693C>T (p.Val231=) c.627C>T (p.Val209=) n.322C>T c.795C>T (p.Val265=) c.593C>T c.606C>T (p.Val202=) n.321C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41422211G>A | CA308524145 | BCKDHA | c.694G>A (p.Val232Ile) c.628G>A (p.Val210Ile) n.323G>A c.796G>A (p.Val266Ile) c.594G>A c.607G>A (p.Val203Ile) n.322G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422211G>C | CA406012745 | BCKDHA | c.694G>C (p.Val232Leu) c.628G>C (p.Val210Leu) n.323G>C c.796G>C (p.Val266Leu) c.594G>C c.607G>C (p.Val203Leu) n.322G>C | |
| 19 | g.41422211G= | CA2336459006 | BCKDHA | c.694G= (p.Val232=) c.628G= (p.Val210=) n.323G= c.796G= (p.Val266=) c.594G= c.607G= (p.Val203=) n.322G= | |
| 19 | g.41422211G>T | CA406012746 | BCKDHA | c.694G>T (p.Val232Phe) c.628G>T (p.Val210Phe) n.323G>T c.796G>T (p.Val266Phe) c.594G>T c.607G>T (p.Val203Phe) n.322G>T | |
| 19 | g.41422212T>A | CA406012747 | BCKDHA | c.695T>A (p.Val232Asp) c.629T>A (p.Val210Asp) n.324T>A c.797T>A (p.Val266Asp) c.595T>A c.608T>A (p.Val203Asp) n.323T>A | |
| 19 | g.41422212T>C | CA406012748 | BCKDHA | c.695T>C (p.Val232Ala) c.629T>C (p.Val210Ala) n.324T>C c.797T>C (p.Val266Ala) c.595T>C c.608T>C (p.Val203Ala) n.323T>C | gnomAD v4 |
| 19 | g.41422212T>G | CA406012749 | BCKDHA | c.695T>G (p.Val232Gly) c.629T>G (p.Val210Gly) n.324T>G c.797T>G (p.Val266Gly) c.595T>G c.608T>G (p.Val203Gly) n.323T>G | |
| 19 | g.41422212_41422213del | CA2580097291 | BCKDHA | c.695_696del (p.Val232AspfsTer11) c.629_630del (p.Val210AspfsTer11) n.324_325del c.797_798del (p.Val266AspfsTer11) c.595_596del c.608_609del (p.Val203AspfsTer11) n.323_324del | ClinVar |
| 19 | g.41422213C>A | CA507690423 | BCKDHA | c.696C>A (p.Val232=) c.630C>A (p.Val210=) n.325C>A c.798C>A (p.Val266=) c.596C>A c.609C>A (p.Val203=) n.324C>A | |
| 19 | g.41422213C>G | CA507690417 | BCKDHA | c.696C>G (p.Val232=) c.630C>G (p.Val210=) n.325C>G c.798C>G (p.Val266=) c.596C>G c.609C>G (p.Val203=) n.324C>G | |
| 19 | g.41422213C>T | CA507690420 | BCKDHA | c.696C>T (p.Val232=) c.630C>T (p.Val210=) n.325C>T c.798C>T (p.Val266=) c.596C>T c.609C>T (p.Val203=) n.324C>T | gnomAD v4 |
| 19 | g.41422214A>C | CA406012750 | BCKDHA | c.697A>C (p.Ile233Leu) c.631A>C (p.Ile211Leu) n.326A>C c.799A>C (p.Ile267Leu) c.597A>C c.610A>C (p.Ile204Leu) n.325A>C | |
| 19 | g.41422214A>G | CA406012751 | BCKDHA | c.697A>G (p.Ile233Val) c.631A>G (p.Ile211Val) n.326A>G c.799A>G (p.Ile267Val) c.597A>G c.610A>G (p.Ile204Val) n.325A>G | gnomAD v4 |
| 19 | g.41422214A>T | CA406012752 | BCKDHA | c.697A>T (p.Ile233Phe) c.631A>T (p.Ile211Phe) n.326A>T c.799A>T (p.Ile267Phe) c.597A>T c.610A>T (p.Ile204Phe) n.325A>T | |
| 19 | g.41422215T>A | CA406012753 | BCKDHA | c.698T>A (p.Ile233Asn) c.632T>A (p.Ile211Asn) n.327T>A c.800T>A (p.Ile267Asn) c.598T>A c.611T>A (p.Ile204Asn) n.326T>A | |
| 19 | g.41422215T>C | CA406012754 | BCKDHA | c.698T>C (p.Ile233Thr) c.632T>C (p.Ile211Thr) n.327T>C c.800T>C (p.Ile267Thr) c.598T>C c.611T>C (p.Ile204Thr) n.326T>C | |
| 19 | g.41422215T>G | CA406012755 | BCKDHA | c.698T>G (p.Ile233Ser) c.632T>G (p.Ile211Ser) n.327T>G c.800T>G (p.Ile267Ser) c.598T>G c.611T>G (p.Ile204Ser) n.326T>G | |
| 19 | g.41422216_41422217del | CA2580097292 | BCKDHA | c.699_700del (p.Ile233MetfsTer10) c.633_634del (p.Ile211MetfsTer10) n.328_329del c.801_802del (p.Ile267MetfsTer10) c.599_600del c.612_613del (p.Ile204MetfsTer10) n.327_328del | ClinVar gnomAD v4 |
| 19 | g.41422216C>A | CA507690429 | BCKDHA | c.699C>A (p.Ile233=) c.633C>A (p.Ile211=) n.328C>A c.801C>A (p.Ile267=) c.599C>A c.612C>A (p.Ile204=) n.327C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41422216C= | CA2336459007 | BCKDHA | c.699C= (p.Ile233=) c.633C= (p.Ile211=) n.328C= c.801C= (p.Ile267=) c.599C= c.612C= (p.Ile204=) n.327C= | |
| 19 | g.41422216C>G | CA406012756 | BCKDHA | c.699C>G (p.Ile233Met) c.633C>G (p.Ile211Met) n.328C>G c.801C>G (p.Ile267Met) c.599C>G c.612C>G (p.Ile204Met) n.327C>G | |
| 19 | g.41422216C>T | CA507690430 | BCKDHA | c.699C>T (p.Ile233=) c.633C>T (p.Ile211=) n.328C>T c.801C>T (p.Ile267=) c.599C>T c.612C>T (p.Ile204=) n.327C>T | dbSNP gnomAD v4 |
| 19 | g.41422217T>A | CA406012757 | BCKDHA | c.700T>A (p.Cys234Ser) c.634T>A (p.Cys212Ser) n.329T>A c.802T>A (p.Cys268Ser) c.600T>A c.613T>A (p.Cys205Ser) n.328T>A | |
| 19 | g.41422217T>C | CA406012758 | BCKDHA | c.700T>C (p.Cys234Arg) c.634T>C (p.Cys212Arg) n.329T>C c.802T>C (p.Cys268Arg) c.600T>C c.613T>C (p.Cys205Arg) n.328T>C | |
| 19 | g.41422217T>G | CA406012759 | BCKDHA | c.700T>G (p.Cys234Gly) c.634T>G (p.Cys212Gly) n.329T>G c.802T>G (p.Cys268Gly) c.600T>G c.613T>G (p.Cys205Gly) n.328T>G | |
| 19 | g.41422218_41422219del | CA2499225496 | BCKDHA | c.701_702del (p.Cys234LeufsTer9) c.635_636del (p.Cys212LeufsTer9) n.330_331del c.803_804del (p.Cys268LeufsTer9) c.601_602del c.614_615del (p.Cys205LeufsTer9) n.329_330del | ClinVar dbSNP |
| 19 | g.41422218G>A | CA406012762 | BCKDHA | c.701G>A (p.Cys234Tyr) c.635G>A (p.Cys212Tyr) n.330G>A c.803G>A (p.Cys268Tyr) c.601G>A c.614G>A (p.Cys205Tyr) n.329G>A | |
| 19 | g.41422218G>C | CA406012761 | BCKDHA | c.701G>C (p.Cys234Ser) c.635G>C (p.Cys212Ser) n.330G>C c.803G>C (p.Cys268Ser) c.601G>C c.614G>C (p.Cys205Ser) n.329G>C | |
| 19 | g.41422218G>T | CA406012760 | BCKDHA | c.701G>T (p.Cys234Phe) c.635G>T (p.Cys212Phe) n.330G>T c.803G>T (p.Cys268Phe) c.601G>T c.614G>T (p.Cys205Phe) n.329G>T | |
| 19 | g.41422219T>A | CA406012763 | BCKDHA | c.702T>A (p.Cys234Ter) c.636T>A (p.Cys212Ter) n.331T>A c.804T>A (p.Cys268Ter) c.602T>A c.615T>A (p.Cys205Ter) n.330T>A | |
| 19 | g.41422219T>C | CA507690437 | BCKDHA | c.702T>C (p.Cys234=) c.636T>C (p.Cys212=) n.331T>C c.804T>C (p.Cys268=) c.602T>C c.615T>C (p.Cys205=) n.330T>C | |
| 19 | g.41422219T>G | CA406012764 | BCKDHA | c.702T>G (p.Cys234Trp) c.636T>G (p.Cys212Trp) n.331T>G c.804T>G (p.Cys268Trp) c.602T>G c.615T>G (p.Cys205Trp) n.330T>G | |
| 19 | g.41422220del | CA2695228766 | BCKDHA | c.703del (p.Tyr235ThrfsTer?) c.637del (p.Tyr213ThrfsTer?) n.332del c.805del (p.Tyr269ThrfsTer?) c.603del c.616del (p.Tyr206ThrfsTer?) n.331del | |
| 19 | g.41422220T>A | CA406012765 | BCKDHA | c.703T>A (p.Tyr235Asn) c.637T>A (p.Tyr213Asn) n.332T>A c.805T>A (p.Tyr269Asn) c.603T>A c.616T>A (p.Tyr206Asn) n.331T>A | |
| 19 | g.41422220T>C | CA406012766 | BCKDHA | c.703T>C (p.Tyr235His) c.637T>C (p.Tyr213His) n.332T>C c.805T>C (p.Tyr269His) c.603T>C c.616T>C (p.Tyr206His) n.331T>C | |
| 19 | g.41422220T>G | CA406012767 | BCKDHA | c.703T>G (p.Tyr235Asp) c.637T>G (p.Tyr213Asp) n.332T>G c.805T>G (p.Tyr269Asp) c.603T>G c.616T>G (p.Tyr206Asp) n.331T>G | |
| 19 | g.41422221A>C | CA406012768 | BCKDHA | c.704A>C (p.Tyr235Ser) c.638A>C (p.Tyr213Ser) n.333A>C c.806A>C (p.Tyr269Ser) c.604A>C c.617A>C (p.Tyr206Ser) n.332A>C | |
| 19 | g.41422221A>G | CA406012769 | BCKDHA | c.704A>G (p.Tyr235Cys) c.638A>G (p.Tyr213Cys) n.333A>G c.806A>G (p.Tyr269Cys) c.604A>G c.617A>G (p.Tyr206Cys) n.332A>G | |
| 19 | g.41422221A>T | CA406012770 | BCKDHA | c.704A>T (p.Tyr235Phe) c.638A>T (p.Tyr213Phe) n.333A>T c.806A>T (p.Tyr269Phe) c.604A>T c.617A>T (p.Tyr206Phe) n.332A>T | |
| 19 | g.41422222C>A | CA406012771 | BCKDHA | c.705C>A (p.Tyr235Ter) c.639C>A (p.Tyr213Ter) n.334C>A c.807C>A (p.Tyr269Ter) c.605C>A c.618C>A (p.Tyr206Ter) n.333C>A | dbSNP gnomAD v4 |
| 19 | g.41422222C= | CA2336459008 | BCKDHA | c.705C= (p.Tyr235=) c.639C= (p.Tyr213=) n.334C= c.807C= (p.Tyr269=) c.605C= c.618C= (p.Tyr206=) n.333C= | |
| 19 | g.41422222C>G | CA406012772 | BCKDHA | c.705C>G (p.Tyr235Ter) c.639C>G (p.Tyr213Ter) n.334C>G c.807C>G (p.Tyr269Ter) c.605C>G c.618C>G (p.Tyr206Ter) n.333C>G | |
| 19 | g.41422222C>T | CA507690443 | BCKDHA | c.705C>T (p.Tyr235=) c.639C>T (p.Tyr213=) n.334C>T c.807C>T (p.Tyr269=) c.605C>T c.618C>T (p.Tyr206=) n.333C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.41422223T>A | CA406012773 | BCKDHA | c.706T>A (p.Phe236Ile) c.640T>A (p.Phe214Ile) n.335T>A c.808T>A (p.Phe270Ile) c.606T>A c.619T>A (p.Phe207Ile) n.334T>A | |
| 19 | g.41422223T>C | CA406012774 | BCKDHA | c.706T>C (p.Phe236Leu) c.640T>C (p.Phe214Leu) n.335T>C c.808T>C (p.Phe270Leu) c.606T>C c.619T>C (p.Phe207Leu) n.334T>C |