Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41422199G>A | CA406012724 | BCKDHA | c.682G>A (p.Ala228Thr) c.616G>A (p.Ala206Thr) n.311G>A n.808G>A c.784G>A (p.Ala262Thr) c.582G>A c.595G>A (p.Ala199Thr) n.310G>A | gnomAD v4 |
19 | g.41422199G>C | CA406012725 | BCKDHA | c.682G>C (p.Ala228Pro) c.616G>C (p.Ala206Pro) n.311G>C n.808G>C c.784G>C (p.Ala262Pro) c.582G>C c.595G>C (p.Ala199Pro) n.310G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422199G= | CA2336458997 | BCKDHA | c.682G= (p.Ala228=) c.616G= (p.Ala206=) n.311G= n.808G= c.784G= (p.Ala262=) c.582G= c.595G= (p.Ala199=) n.310G= | |
19 | g.41422199G>T | CA406012726 | BCKDHA | c.682G>T (p.Ala228Ser) c.616G>T (p.Ala206Ser) n.311G>T n.808G>T c.784G>T (p.Ala262Ser) c.582G>T c.595G>T (p.Ala199Ser) n.310G>T | |
19 | g.41422200C>A | CA406012727 | BCKDHA | c.683C>A (p.Ala228Asp) c.617C>A (p.Ala206Asp) n.312C>A n.809C>A c.785C>A (p.Ala262Asp) c.583C>A c.596C>A (p.Ala199Asp) n.311C>A | |
19 | g.41422200C= | CA2336458998 | BCKDHA | c.683C= (p.Ala228=) c.617C= (p.Ala206=) n.312C= n.809C= c.785C= (p.Ala262=) c.583C= c.596C= (p.Ala199=) n.311C= | |
19 | g.41422200C>G | CA308524094 | BCKDHA | c.683C>G (p.Ala228Gly) c.617C>G (p.Ala206Gly) n.312C>G n.809C>G c.785C>G (p.Ala262Gly) c.583C>G c.596C>G (p.Ala199Gly) n.311C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422200C>T | CA406012728 | BCKDHA | c.683C>T (p.Ala228Val) c.617C>T (p.Ala206Val) n.312C>T n.809C>T c.785C>T (p.Ala262Val) c.583C>T c.596C>T (p.Ala199Val) n.311C>T | |
19 | g.41422201C>A | CA507690387 | BCKDHA | c.684C>A (p.Ala228=) c.618C>A (p.Ala206=) n.313C>A n.810C>A c.786C>A (p.Ala262=) c.584C>A c.597C>A (p.Ala199=) n.312C>A | |
19 | g.41422201C= | CA2336458999 | BCKDHA | c.684C= (p.Ala228=) c.618C= (p.Ala206=) n.313C= n.810C= c.786C= (p.Ala262=) c.584C= c.597C= (p.Ala199=) n.312C= | |
19 | g.41422201C>G | CA507690388 | BCKDHA | c.684C>G (p.Ala228=) c.618C>G (p.Ala206=) n.313C>G n.810C>G c.786C>G (p.Ala262=) c.584C>G c.597C>G (p.Ala199=) n.312C>G | |
19 | g.41422201C>T | CA9461242 | BCKDHA | c.684C>T (p.Ala228=) c.618C>T (p.Ala206=) n.313C>T n.810C>T c.786C>T (p.Ala262=) c.584C>T c.597C>T (p.Ala199=) n.312C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422202A= | CA2336459000 | BCKDHA | c.685A= (p.Asn229=) c.619A= (p.Asn207=) n.314A= n.811A= c.787A= (p.Asn263=) c.585A= c.598A= (p.Asn200=) n.313A= | |
19 | g.41422202A>C | CA406012729 | BCKDHA | c.685A>C (p.Asn229His) c.619A>C (p.Asn207His) n.314A>C n.811A>C c.787A>C (p.Asn263His) c.585A>C c.598A>C (p.Asn200His) n.313A>C | gnomAD v4 |
19 | g.41422202A>G | CA406012730 | BCKDHA | c.685A>G (p.Asn229Asp) c.619A>G (p.Asn207Asp) n.314A>G n.811A>G c.787A>G (p.Asn263Asp) c.585A>G c.598A>G (p.Asn200Asp) n.313A>G | gnomAD v4 |
19 | g.41422202A>T | CA9461243 | BCKDHA | c.685A>T (p.Asn229Tyr) c.619A>T (p.Asn207Tyr) n.314A>T n.811A>T c.787A>T (p.Asn263Tyr) c.585A>T c.598A>T (p.Asn200Tyr) n.313A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422203A>C | CA406012731 | BCKDHA | c.686A>C (p.Asn229Thr) c.620A>C (p.Asn207Thr) n.315A>C n.812A>C c.788A>C (p.Asn263Thr) c.586A>C c.599A>C (p.Asn200Thr) n.314A>C | |
19 | g.41422203A>G | CA406012732 | BCKDHA | c.686A>G (p.Asn229Ser) c.620A>G (p.Asn207Ser) n.315A>G n.812A>G c.788A>G (p.Asn263Ser) c.586A>G c.599A>G (p.Asn200Ser) n.314A>G | |
19 | g.41422203A>T | CA406012733 | BCKDHA | c.686A>T (p.Asn229Ile) c.620A>T (p.Asn207Ile) n.315A>T n.812A>T c.788A>T (p.Asn263Ile) c.586A>T c.599A>T (p.Asn200Ile) n.314A>T | |
19 | g.41422204C>A | CA406012735 | BCKDHA | c.687C>A (p.Asn229Lys) c.621C>A (p.Asn207Lys) n.316C>A n.813C>A c.789C>A (p.Asn263Lys) c.587C>A c.600C>A (p.Asn200Lys) n.315C>A | |
19 | g.41422204C>G | CA406012734 | BCKDHA | c.687C>G (p.Asn229Lys) c.621C>G (p.Asn207Lys) n.316C>G n.813C>G c.789C>G (p.Asn263Lys) c.587C>G c.600C>G (p.Asn200Lys) n.315C>G | |
19 | g.41422204C>T | CA507690394 | BCKDHA | c.687C>T (p.Asn229=) c.621C>T (p.Asn207=) n.316C>T n.813C>T c.789C>T (p.Asn263=) c.587C>T c.600C>T (p.Asn200=) n.315C>T | gnomAD v4 |
19 | g.41422205A= | CA2336459001 | BCKDHA | c.688A= (p.Arg230=) c.622A= (p.Arg208=) n.317A= n.814A= c.790A= (p.Arg264=) c.588A= c.601A= (p.Arg201=) n.316A= | |
19 | g.41422205A>C | CA507690396 | BCKDHA | c.688A>C (p.Arg230=) c.622A>C (p.Arg208=) n.317A>C n.814A>C c.790A>C (p.Arg264=) c.588A>C c.601A>C (p.Arg201=) n.316A>C | |
19 | g.41422205A>G | CA9461244 | BCKDHA | c.688A>G (p.Arg230Gly) c.622A>G (p.Arg208Gly) n.317A>G n.814A>G c.790A>G (p.Arg264Gly) c.588A>G c.601A>G (p.Arg201Gly) n.316A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422205A>T | CA406012736 | BCKDHA | c.688A>T (p.Arg230Trp) c.622A>T (p.Arg208Trp) n.317A>T n.814A>T c.790A>T (p.Arg264Trp) c.588A>T c.601A>T (p.Arg201Trp) n.316A>T | |
19 | g.41422206G>A | CA406012737 | BCKDHA | c.689G>A (p.Arg230Lys) c.623G>A (p.Arg208Lys) n.318G>A n.815G>A c.791G>A (p.Arg264Lys) c.589G>A c.602G>A (p.Arg201Lys) n.317G>A | |
19 | g.41422206G>C | CA308524127 | BCKDHA | c.689G>C (p.Arg230Thr) c.623G>C (p.Arg208Thr) n.318G>C n.815G>C c.791G>C (p.Arg264Thr) c.589G>C c.602G>C (p.Arg201Thr) n.317G>C | dbSNP |
19 | g.41422206G= | CA2336459002 | BCKDHA | c.689G= (p.Arg230=) c.623G= (p.Arg208=) n.318G= n.815G= c.791G= (p.Arg264=) c.589G= c.602G= (p.Arg201=) n.317G= | |
19 | g.41422206G>T | CA308524135 | BCKDHA | c.689G>T (p.Arg230Met) c.623G>T (p.Arg208Met) n.318G>T n.815G>T c.791G>T (p.Arg264Met) c.589G>T c.602G>T (p.Arg201Met) n.317G>T | dbSNP |
19 | g.41422208del | CA2814427390 | BCKDHA | c.691del (p.Val231SerfsTer?) c.625del (p.Val209SerfsTer?) n.320del c.793del (p.Val265SerfsTer?) c.591del c.604del (p.Val202SerfsTer?) n.319del | |
19 | g.41422207G>A | CA507690405 | BCKDHA | c.690G>A (p.Arg230=) c.624G>A (p.Arg208=) n.319G>A n.816G>A c.792G>A (p.Arg264=) c.590G>A c.603G>A (p.Arg201=) n.318G>A | |
19 | g.41422207G>C | CA406012738 | BCKDHA | c.690G>C (p.Arg230Ser) c.624G>C (p.Arg208Ser) n.319G>C n.816G>C c.792G>C (p.Arg264Ser) c.590G>C c.603G>C (p.Arg201Ser) n.318G>C | |
19 | g.41422207G= | CA2336459003 | BCKDHA | c.690G= (p.Arg230=) c.624G= (p.Arg208=) n.319G= n.816G= c.792G= (p.Arg264=) c.590G= c.603G= (p.Arg201=) n.318G= | |
19 | g.41422207G>T | CA308524141 | BCKDHA | c.690G>T (p.Arg230Ser) c.624G>T (p.Arg208Ser) n.319G>T n.816G>T c.792G>T (p.Arg264Ser) c.590G>T c.603G>T (p.Arg201Ser) n.318G>T | dbSNP gnomAD v4 |
19 | g.41422208G>A | CA406012739 | BCKDHA | c.691G>A (p.Val231Ile) c.625G>A (p.Val209Ile) n.320G>A c.793G>A (p.Val265Ile) c.591G>A c.604G>A (p.Val202Ile) n.319G>A | COSMIC |
19 | g.41422208G>C | CA406012740 | BCKDHA | c.691G>C (p.Val231Leu) c.625G>C (p.Val209Leu) n.320G>C c.793G>C (p.Val265Leu) c.591G>C c.604G>C (p.Val202Leu) n.319G>C | |
19 | g.41422208G>T | CA406012741 | BCKDHA | c.691G>T (p.Val231Phe) c.625G>T (p.Val209Phe) n.320G>T c.793G>T (p.Val265Phe) c.591G>T c.604G>T (p.Val202Phe) n.319G>T | ClinVar dbSNP gnomAD v4 |
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.41422209T>A | CA406012742 | BCKDHA | c.692T>A (p.Val231Asp) c.626T>A (p.Val209Asp) n.321T>A c.794T>A (p.Val265Asp) c.592T>A c.605T>A (p.Val202Asp) n.320T>A | |
19 | g.41422209T>C | CA406012743 | BCKDHA | c.692T>C (p.Val231Ala) c.626T>C (p.Val209Ala) n.321T>C c.794T>C (p.Val265Ala) c.592T>C c.605T>C (p.Val202Ala) n.320T>C | |
19 | g.41422209T>G | CA406012744 | BCKDHA | c.692T>G (p.Val231Gly) c.626T>G (p.Val209Gly) n.321T>G c.794T>G (p.Val265Gly) c.592T>G c.605T>G (p.Val202Gly) n.320T>G | dbSNP |
19 | g.41422209T= | CA2336459004 | BCKDHA | c.692T= (p.Val231=) c.626T= (p.Val209=) n.321T= c.794T= (p.Val265=) c.592T= c.605T= (p.Val202=) n.320T= | |
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 | |
19 | g.41422223T>G | CA406012775 | BCKDHA | c.706T>G (p.Phe236Val) c.640T>G (p.Phe214Val) n.335T>G c.808T>G (p.Phe270Val) c.606T>G c.619T>G (p.Phe207Val) n.334T>G | |
19 | g.41422224T>A | CA406012777 | BCKDHA | c.707T>A (p.Phe236Tyr) c.641T>A (p.Phe214Tyr) n.336T>A c.809T>A (p.Phe270Tyr) c.607T>A c.620T>A (p.Phe207Tyr) n.335T>A | |
19 | g.41422224T>C | CA406012778 | BCKDHA | c.707T>C (p.Phe236Ser) c.641T>C (p.Phe214Ser) n.336T>C c.809T>C (p.Phe270Ser) c.607T>C c.620T>C (p.Phe207Ser) n.335T>C | |
19 | g.41422224T>G | CA406012776 | BCKDHA | c.707T>G (p.Phe236Cys) c.641T>G (p.Phe214Cys) n.336T>G c.809T>G (p.Phe270Cys) c.607T>G c.620T>G (p.Phe207Cys) n.335T>G | |
19 | g.41422225C>A | CA406012779 | BCKDHA | c.708C>A (p.Phe236Leu) c.642C>A (p.Phe214Leu) n.337C>A c.810C>A (p.Phe270Leu) c.608C>A c.621C>A (p.Phe207Leu) n.336C>A | |
19 | g.41422225C= | CA2336459009 | BCKDHA | c.708C= (p.Phe236=) c.642C= (p.Phe214=) n.337C= c.810C= (p.Phe270=) c.608C= c.621C= (p.Phe207=) n.336C= | |
19 | g.41422225C>G | CA406012780 | BCKDHA | c.708C>G (p.Phe236Leu) c.642C>G (p.Phe214Leu) n.337C>G c.810C>G (p.Phe270Leu) c.608C>G c.621C>G (p.Phe207Leu) n.336C>G | |
19 | g.41422225C>T | CA221210 | BCKDHA | c.708C>T (p.Phe236=) c.642C>T (p.Phe214=) n.337C>T c.810C>T (p.Phe270=) c.608C>T c.621C>T (p.Phe207=) n.336C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422226G>A | CA406012781 | BCKDHA | c.709G>A (p.Gly237Ser) c.643G>A (p.Gly215Ser) n.338G>A c.811G>A (p.Gly271Ser) c.609G>A c.622G>A (p.Gly208Ser) n.337G>A | ClinVar gnomAD v4 |
19 | g.41422226G>C | CA406012782 | BCKDHA | c.709G>C (p.Gly237Arg) c.643G>C (p.Gly215Arg) n.338G>C c.811G>C (p.Gly271Arg) c.609G>C c.622G>C (p.Gly208Arg) n.337G>C | |
19 | g.41422226G>T | CA406012783 | BCKDHA | c.709G>T (p.Gly237Cys) c.643G>T (p.Gly215Cys) n.338G>T c.811G>T (p.Gly271Cys) c.609G>T c.622G>T (p.Gly208Cys) n.337G>T | |
19 | g.41422227G>A | CA406012784 | BCKDHA | c.710G>A (p.Gly237Asp) c.644G>A (p.Gly215Asp) n.339G>A c.812G>A (p.Gly271Asp) c.610G>A c.623G>A (p.Gly208Asp) n.338G>A | |
19 | g.41422227G>C | CA406012785 | BCKDHA | c.710G>C (p.Gly237Ala) c.644G>C (p.Gly215Ala) n.339G>C c.812G>C (p.Gly271Ala) c.610G>C c.623G>C (p.Gly208Ala) n.338G>C | |
19 | g.41422227G>T | CA406012786 | BCKDHA | c.710G>T (p.Gly237Val) c.644G>T (p.Gly215Val) n.339G>T c.812G>T (p.Gly271Val) c.610G>T c.623G>T (p.Gly208Val) n.338G>T | |
19 | g.41422228C>A | CA507690455 | BCKDHA | c.711C>A (p.Gly237=) c.645C>A (p.Gly215=) n.340C>A c.813C>A (p.Gly271=) c.611C>A c.624C>A (p.Gly208=) n.339C>A | |
19 | g.41422228C= | CA2336459010 | BCKDHA | c.711C= (p.Gly237=) c.645C= (p.Gly215=) n.340C= c.813C= (p.Gly271=) c.611C= c.624C= (p.Gly208=) n.339C= | |
19 | g.41422228C>G | CA507690457 | BCKDHA | c.711C>G (p.Gly237=) c.645C>G (p.Gly215=) n.340C>G c.813C>G (p.Gly271=) c.611C>G c.624C>G (p.Gly208=) n.339C>G | |
19 | g.41422228C>T | CA308524153 | BCKDHA | c.711C>T (p.Gly237=) c.645C>T (p.Gly215=) n.340C>T c.813C>T (p.Gly271=) c.611C>T c.624C>T (p.Gly208=) n.339C>T | dbSNP gnomAD v4 |
19 | g.41422229G>A | CA406012787 | BCKDHA | c.712G>A (p.Glu238Lys) c.646G>A (p.Glu216Lys) n.341G>A c.814G>A (p.Glu272Lys) c.612G>A c.625G>A (p.Glu209Lys) n.340G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422229G>C | CA406012788 | BCKDHA | c.712G>C (p.Glu238Gln) c.646G>C (p.Glu216Gln) n.341G>C c.814G>C (p.Glu272Gln) c.612G>C c.625G>C (p.Glu209Gln) n.340G>C | |
19 | g.41422229G= | CA2336459011 | BCKDHA | c.712G= (p.Glu238=) c.646G= (p.Glu216=) n.341G= c.814G= (p.Glu272=) c.612G= c.625G= (p.Glu209=) n.340G= | |
19 | g.41422229G>T | CA406012789 | BCKDHA | c.712G>T (p.Glu238Ter) c.646G>T (p.Glu216Ter) n.341G>T c.814G>T (p.Glu272Ter) c.612G>T c.625G>T (p.Glu209Ter) n.340G>T | ClinVar dbSNP gnomAD v4 |
19 | g.41422230_41422231del | CA913016475 | BCKDHA | c.713_714del (p.Glu238GlyfsTer5) c.647_648del (p.Glu216GlyfsTer5) n.342_343del c.815_816del (p.Glu272GlyfsTer5) c.613_614del c.626_627del (p.Glu209GlyfsTer5) n.341_342del | |
19 | g.41422230A= | CA2336459013 | BCKDHA | c.713A= (p.Glu238=) c.647A= (p.Glu216=) n.342A= c.815A= (p.Glu272=) c.613A= c.626A= (p.Glu209=) n.341A= | |
19 | g.41422230A>C | CA406012792 | BCKDHA | c.713A>C (p.Glu238Ala) c.647A>C (p.Glu216Ala) n.342A>C c.815A>C (p.Glu272Ala) c.613A>C c.626A>C (p.Glu209Ala) n.341A>C | |
19 | g.41422230A>G | CA406012790 | BCKDHA | c.713A>G (p.Glu238Gly) c.647A>G (p.Glu216Gly) n.342A>G c.815A>G (p.Glu272Gly) c.613A>G c.626A>G (p.Glu209Gly) n.341A>G | dbSNP |
19 | g.41422230A>T | CA406012791 | BCKDHA | c.713A>T (p.Glu238Val) c.647A>T (p.Glu216Val) n.342A>T c.815A>T (p.Glu272Val) c.613A>T c.626A>T (p.Glu209Val) n.341A>T | |
19 | g.41422230_41422231delinsAG | CA2336459012 | BCKDHA | c.713_714delinsAG (p.Glu238=) c.647_648delinsAG (p.Glu216=) n.342_343delinsAG c.815_816delinsAG (p.Glu272=) c.613_614delinsAG c.626_627delinsAG (p.Glu209=) n.341_342delinsAG | |
19 | g.41422231G>A | CA507690460 | BCKDHA | c.714G>A (p.Glu238=) c.648G>A (p.Glu216=) n.343G>A c.816G>A (p.Glu272=) c.614G>A c.627G>A (p.Glu209=) n.342G>A | |
19 | g.41422231G>C | CA308524156 | BCKDHA | c.714G>C (p.Glu238Asp) c.648G>C (p.Glu216Asp) n.343G>C c.816G>C (p.Glu272Asp) c.614G>C c.627G>C (p.Glu209Asp) n.342G>C | dbSNP |
19 | g.41422231G= | CA2336459014 | BCKDHA | c.714G= (p.Glu238=) c.648G= (p.Glu216=) n.343G= c.816G= (p.Glu272=) c.614G= c.627G= (p.Glu209=) n.342G= | |
19 | g.41422231G>T | CA406012793 | BCKDHA | c.714G>T (p.Glu238Asp) c.648G>T (p.Glu216Asp) n.343G>T c.816G>T (p.Glu272Asp) c.614G>T c.627G>T (p.Glu209Asp) n.342G>T | |
19 | g.41422235dup | CA2814427392 | BCKDHA | c.718dup (p.Ala240GlyfsTer4) c.652dup (p.Ala218GlyfsTer4) n.347dup c.820dup (p.Ala274GlyfsTer4) c.618dup c.631dup (p.Ala211GlyfsTer4) n.346dup | |
19 | g.41422235del | CA658820749 | BCKDHA | c.718del (p.Ala240GlnfsTer?) c.652del (p.Ala218GlnfsTer?) n.347del c.820del (p.Ala274GlnfsTer?) c.618del c.631del (p.Ala211GlnfsTer?) n.346del | ClinVar dbSNP gnomAD v4 |
19 | g.41422232G>A | CA406012794 | BCKDHA | c.715G>A (p.Gly239Arg) c.649G>A (p.Gly217Arg) n.344G>A c.817G>A (p.Gly273Arg) c.615G>A c.628G>A (p.Gly210Arg) n.343G>A | gnomAD v4 |
19 | g.41422232G>C | CA406012795 | BCKDHA | c.715G>C (p.Gly239Arg) c.649G>C (p.Gly217Arg) n.344G>C c.817G>C (p.Gly273Arg) c.615G>C c.628G>C (p.Gly210Arg) n.343G>C | |
19 | g.41422232G>T | CA406012796 | BCKDHA | c.715G>T (p.Gly239Trp) c.649G>T (p.Gly217Trp) n.344G>T c.817G>T (p.Gly273Trp) c.615G>T c.628G>T (p.Gly210Trp) n.343G>T | |
19 | g.41422233G>A | CA406012797 | BCKDHA | c.716G>A (p.Gly239Glu) c.650G>A (p.Gly217Glu) n.345G>A c.818G>A (p.Gly273Glu) c.616G>A c.629G>A (p.Gly210Glu) n.344G>A | gnomAD v4 |
19 | g.41422233G>C | CA406012798 | BCKDHA | c.716G>C (p.Gly239Ala) c.650G>C (p.Gly217Ala) n.345G>C c.818G>C (p.Gly273Ala) c.616G>C c.629G>C (p.Gly210Ala) n.344G>C | |
19 | g.41422233G>T | CA406012799 | BCKDHA | c.716G>T (p.Gly239Val) c.650G>T (p.Gly217Val) n.345G>T c.818G>T (p.Gly273Val) c.616G>T c.629G>T (p.Gly210Val) n.344G>T | |
19 | g.41422234G>A | CA507690472 | BCKDHA | c.717G>A (p.Gly239=) c.651G>A (p.Gly217=) n.346G>A c.819G>A (p.Gly273=) c.617G>A c.630G>A (p.Gly210=) n.345G>A | gnomAD v4 |
19 | g.41422234G>C | CA507690470 | BCKDHA | c.717G>C (p.Gly239=) c.651G>C (p.Gly217=) n.346G>C c.819G>C (p.Gly273=) c.617G>C c.630G>C (p.Gly210=) n.345G>C | |
19 | g.41422234G>T | CA507690471 | BCKDHA | c.717G>T (p.Gly239=) c.651G>T (p.Gly217=) n.346G>T c.819G>T (p.Gly273=) c.617G>T c.630G>T (p.Gly210=) n.345G>T | |
19 | g.41422235G>A | CA406012800 | BCKDHA | c.718G>A (p.Ala240Thr) c.652G>A (p.Ala218Thr) n.347G>A c.820G>A (p.Ala274Thr) c.618G>A c.631G>A (p.Ala211Thr) n.346G>A | gnomAD v4 |
19 | g.41422235G>C | CA406012801 | BCKDHA | c.718G>C (p.Ala240Pro) c.652G>C (p.Ala218Pro) n.347G>C c.820G>C (p.Ala274Pro) c.618G>C c.631G>C (p.Ala211Pro) n.346G>C | |
19 | g.41422235G>T | CA406012802 | BCKDHA | c.718G>T (p.Ala240Ser) c.652G>T (p.Ala218Ser) n.347G>T c.820G>T (p.Ala274Ser) c.618G>T c.631G>T (p.Ala211Ser) n.346G>T | |
19 | g.41422236C>A | CA406012804 | BCKDHA | c.719C>A (p.Ala240Glu) c.653C>A (p.Ala218Glu) n.348C>A c.821C>A (p.Ala274Glu) c.619C>A c.632C>A (p.Ala211Glu) n.347C>A | gnomAD v4 |
19 | g.41422236C= | CA2336459015 | BCKDHA | c.719C= (p.Ala240=) c.653C= (p.Ala218=) n.348C= c.821C= (p.Ala274=) c.619C= c.632C= (p.Ala211=) n.347C= | |
19 | g.41422236C>G | CA406012805 | BCKDHA | c.719C>G (p.Ala240Gly) c.653C>G (p.Ala218Gly) n.348C>G c.821C>G (p.Ala274Gly) c.619C>G c.632C>G (p.Ala211Gly) n.347C>G | |
19 | g.41422236C>T | CA406012803 | BCKDHA | c.719C>T (p.Ala240Val) c.653C>T (p.Ala218Val) n.348C>T c.821C>T (p.Ala274Val) c.619C>T c.632C>T (p.Ala211Val) n.347C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422237A>C | CA507690476 | BCKDHA | c.720A>C (p.Ala240=) c.654A>C (p.Ala218=) n.349A>C c.822A>C (p.Ala274=) c.620A>C c.633A>C (p.Ala211=) n.348A>C | |
19 | g.41422237A>G | CA507690477 | BCKDHA | c.720A>G (p.Ala240=) c.654A>G (p.Ala218=) n.349A>G c.822A>G (p.Ala274=) c.620A>G c.633A>G (p.Ala211=) n.348A>G | gnomAD v4 |
19 | g.41422237A>T | CA507690479 | BCKDHA | c.720A>T (p.Ala240=) c.654A>T (p.Ala218=) n.349A>T c.822A>T (p.Ala274=) c.620A>T c.633A>T (p.Ala211=) n.348A>T | |
19 | g.41422238G>A | CA9461246 | BCKDHA | c.721G>A (p.Ala241Thr) c.655G>A (p.Ala219Thr) n.350G>A c.823G>A (p.Ala275Thr) c.621G>A c.634G>A (p.Ala212Thr) n.349G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422238G>C | CA406012806 | BCKDHA | c.721G>C (p.Ala241Pro) c.655G>C (p.Ala219Pro) n.350G>C c.823G>C (p.Ala275Pro) c.621G>C c.634G>C (p.Ala212Pro) n.349G>C | |
19 | g.41422238G= | CA2336459016 | BCKDHA | c.721G= (p.Ala241=) c.655G= (p.Ala219=) n.350G= c.823G= (p.Ala275=) c.621G= c.634G= (p.Ala212=) n.349G= | |
19 | g.41422238G>T | CA406012807 | BCKDHA | c.721G>T (p.Ala241Ser) c.655G>T (p.Ala219Ser) n.350G>T c.823G>T (p.Ala275Ser) c.621G>T c.634G>T (p.Ala212Ser) n.349G>T | |
19 | g.41422239C>A | CA406012808 | BCKDHA | c.722C>A (p.Ala241Asp) c.656C>A (p.Ala219Asp) n.351C>A c.824C>A (p.Ala275Asp) c.622C>A c.635C>A (p.Ala212Asp) n.350C>A | |
19 | g.41422239C>G | CA406012809 | BCKDHA | c.722C>G (p.Ala241Gly) c.656C>G (p.Ala219Gly) n.351C>G c.824C>G (p.Ala275Gly) c.622C>G c.635C>G (p.Ala212Gly) n.350C>G | |
19 | g.41422239C>T | CA406012810 | BCKDHA | c.722C>T (p.Ala241Val) c.656C>T (p.Ala219Val) n.351C>T c.824C>T (p.Ala275Val) c.622C>T c.635C>T (p.Ala212Val) n.350C>T | |
19 | g.41422240C>A | CA507690482 | BCKDHA | c.723C>A (p.Ala241=) c.657C>A (p.Ala219=) n.352C>A c.825C>A (p.Ala275=) c.623C>A c.636C>A (p.Ala212=) n.351C>A | |
19 | g.41422240C>G | CA507690483 | BCKDHA | c.723C>G (p.Ala241=) c.657C>G (p.Ala219=) n.352C>G c.825C>G (p.Ala275=) c.623C>G c.636C>G (p.Ala212=) n.351C>G | |
19 | g.41422240C>T | CA507690484 | BCKDHA | c.723C>T (p.Ala241=) c.657C>T (p.Ala219=) n.352C>T c.825C>T (p.Ala275=) c.623C>T c.636C>T (p.Ala212=) n.351C>T | ClinVar dbSNP gnomAD v4 |
19 | g.41422241A= | CA2336459017 | BCKDHA | c.724A= (p.Ser242=) c.658A= (p.Ser220=) n.353A= c.826A= (p.Ser276=) c.624A= c.637A= (p.Ser213=) n.352A= | |
19 | g.41422241A>C | CA406012812 | BCKDHA | c.724A>C (p.Ser242Arg) c.658A>C (p.Ser220Arg) n.353A>C c.826A>C (p.Ser276Arg) c.624A>C c.637A>C (p.Ser213Arg) n.352A>C | |
19 | g.41422241A>G | CA9461247 | BCKDHA | c.724A>G (p.Ser242Gly) c.658A>G (p.Ser220Gly) n.353A>G c.826A>G (p.Ser276Gly) c.624A>G c.637A>G (p.Ser213Gly) n.352A>G | dbSNP ExAC gnomAD v2 |
19 | g.41422241A>T | CA406012811 | BCKDHA | c.724A>T (p.Ser242Cys) c.658A>T (p.Ser220Cys) n.353A>T c.826A>T (p.Ser276Cys) c.624A>T c.637A>T (p.Ser213Cys) n.352A>T | |
19 | g.41422242G>A | CA406012813 | BCKDHA | c.725G>A (p.Ser242Asn) c.659G>A (p.Ser220Asn) n.354G>A c.827G>A (p.Ser276Asn) c.625G>A c.638G>A (p.Ser213Asn) n.353G>A | |
19 | g.41422242G>C | CA406012814 | BCKDHA | c.725G>C (p.Ser242Thr) c.659G>C (p.Ser220Thr) n.354G>C c.827G>C (p.Ser276Thr) c.625G>C c.638G>C (p.Ser213Thr) n.353G>C | |
19 | g.41422242G>T | CA406012815 | BCKDHA | c.725G>T (p.Ser242Ile) c.659G>T (p.Ser220Ile) n.354G>T c.827G>T (p.Ser276Ile) c.625G>T c.638G>T (p.Ser213Ile) n.353G>T | |
19 | g.41422243T>A | CA406012816 | BCKDHA | c.726T>A (p.Ser242Arg) c.660T>A (p.Ser220Arg) n.355T>A c.828T>A (p.Ser276Arg) c.626T>A c.639T>A (p.Ser213Arg) n.354T>A | |
19 | g.41422243T>C | CA9461248 | BCKDHA | c.726T>C (p.Ser242=) c.660T>C (p.Ser220=) n.355T>C c.828T>C (p.Ser276=) c.626T>C c.639T>C (p.Ser213=) n.354T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422243T>G | CA406012817 | BCKDHA | c.726T>G (p.Ser242Arg) c.660T>G (p.Ser220Arg) n.355T>G c.828T>G (p.Ser276Arg) c.626T>G c.639T>G (p.Ser213Arg) n.354T>G | |
19 | g.41422243T= | CA2336459018 | BCKDHA | c.726T= (p.Ser242=) c.660T= (p.Ser220=) n.355T= c.828T= (p.Ser276=) c.626T= c.639T= (p.Ser213=) n.354T= | |
19 | g.41422244G>A | CA406012818 | BCKDHA | c.727G>A (p.Glu243Lys) c.661G>A (p.Glu221Lys) n.356G>A c.829G>A (p.Glu277Lys) c.627G>A c.640G>A (p.Glu214Lys) n.355G>A | |
19 | g.41422244G>C | CA406012820 | BCKDHA | c.727G>C (p.Glu243Gln) c.661G>C (p.Glu221Gln) n.356G>C c.829G>C (p.Glu277Gln) c.627G>C c.640G>C (p.Glu214Gln) n.355G>C | |
19 | g.41422244G>T | CA406012819 | BCKDHA | c.727G>T (p.Glu243Ter) c.661G>T (p.Glu221Ter) n.356G>T c.829G>T (p.Glu277Ter) c.627G>T c.640G>T (p.Glu214Ter) n.355G>T | |
19 | g.41422245A= | CA2336459019 | BCKDHA | c.728A= (p.Glu243=) c.662A= (p.Glu221=) n.357A= c.830A= (p.Glu277=) c.628A= c.641A= (p.Glu214=) n.356A= | |
19 | g.41422245A>C | CA406012821 | BCKDHA | c.728A>C (p.Glu243Ala) c.662A>C (p.Glu221Ala) n.357A>C c.830A>C (p.Glu277Ala) c.628A>C c.641A>C (p.Glu214Ala) n.356A>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422245A>G | CA406012822 | BCKDHA | c.728A>G (p.Glu243Gly) c.662A>G (p.Glu221Gly) n.357A>G c.830A>G (p.Glu277Gly) c.628A>G c.641A>G (p.Glu214Gly) n.356A>G | |
19 | g.41422245A>T | CA406012823 | BCKDHA | c.728A>T (p.Glu243Val) c.662A>T (p.Glu221Val) n.357A>T c.830A>T (p.Glu277Val) c.628A>T c.641A>T (p.Glu214Val) n.356A>T | |
19 | g.41422246G>A | CA9461249 | BCKDHA | c.729G>A (p.Glu243=) c.663G>A (p.Glu221=) n.358G>A c.831G>A (p.Glu277=) c.629G>A c.642G>A (p.Glu214=) n.357G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422246G>C | CA406012824 | BCKDHA | c.729G>C (p.Glu243Asp) c.663G>C (p.Glu221Asp) n.358G>C c.831G>C (p.Glu277Asp) c.629G>C c.642G>C (p.Glu214Asp) n.357G>C | |
19 | g.41422246G= | CA2336459020 | BCKDHA | c.729G= (p.Glu243=) c.663G= (p.Glu221=) n.358G= c.831G= (p.Glu277=) c.629G= c.642G= (p.Glu214=) n.357G= | |
19 | g.41422246G>T | CA406012825 | BCKDHA | c.729G>T (p.Glu243Asp) c.663G>T (p.Glu221Asp) n.358G>T c.831G>T (p.Glu277Asp) c.629G>T c.642G>T (p.Glu214Asp) n.357G>T | |
19 | g.41422250dup | CA2814427397 | BCKDHA | c.733dup (p.Asp245GlyfsTer13) c.667dup (p.Asp223GlyfsTer13) n.362dup c.835dup (p.Asp279GlyfsTer13) c.646dup (p.Asp216GlyfsTer13) n.361dup | |
19 | g.41422247G>A | CA406012826 | BCKDHA | c.730G>A (p.Gly244Arg) c.664G>A (p.Gly222Arg) n.359G>A c.832G>A (p.Gly278Arg) c.630G>A c.643G>A (p.Gly215Arg) n.358G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422247G>C | CA406012827 | BCKDHA | c.730G>C (p.Gly244Arg) c.664G>C (p.Gly222Arg) n.359G>C c.832G>C (p.Gly278Arg) c.630G>C c.643G>C (p.Gly215Arg) n.358G>C | |
19 | g.41422247G= | CA2336459021 | BCKDHA | c.730G= (p.Gly244=) c.664G= (p.Gly222=) n.359G= c.832G= (p.Gly278=) c.630G= c.643G= (p.Gly215=) n.358G= | |
19 | g.41422247G>T | CA406012828 | BCKDHA | c.730G>T (p.Gly244Trp) c.664G>T (p.Gly222Trp) n.359G>T c.832G>T (p.Gly278Trp) c.630G>T c.643G>T (p.Gly215Trp) n.358G>T | |
19 | g.41422248G>A | CA406012829 | BCKDHA | c.731G>A (p.Gly244Glu) c.665G>A (p.Gly222Glu) n.360G>A c.833G>A (p.Gly278Glu) c.631G>A c.644G>A (p.Gly215Glu) n.359G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422248G>C | CA406012830 | BCKDHA | c.731G>C (p.Gly244Ala) c.665G>C (p.Gly222Ala) n.360G>C c.833G>C (p.Gly278Ala) c.631G>C c.644G>C (p.Gly215Ala) n.359G>C | |
19 | g.41422248G= | CA2336459022 | BCKDHA | c.731G= (p.Gly244=) c.665G= (p.Gly222=) n.360G= c.833G= (p.Gly278=) c.631G= c.644G= (p.Gly215=) n.359G= | |
19 | g.41422248G>T | CA406012831 | BCKDHA | c.731G>T (p.Gly244Val) c.665G>T (p.Gly222Val) n.360G>T c.833G>T (p.Gly278Val) c.631G>T c.644G>T (p.Gly215Val) n.359G>T | ClinVar |
19 | g.41422249G>A | CA507690502 | BCKDHA | c.732G>A (p.Gly244=) c.666G>A (p.Gly222=) n.361G>A c.834G>A (p.Gly278=) c.632G>A c.645G>A (p.Gly215=) n.360G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422249G>C | CA507690500 | BCKDHA | c.732G>C (p.Gly244=) c.666G>C (p.Gly222=) n.361G>C c.834G>C (p.Gly278=) c.632G>C c.645G>C (p.Gly215=) n.360G>C | |
19 | g.41422249G= | CA2336459023 | BCKDHA | c.732G= (p.Gly244=) c.666G= (p.Gly222=) n.361G= c.834G= (p.Gly278=) c.632G= c.645G= (p.Gly215=) n.360G= | |
19 | g.41422249G>T | CA507690501 | BCKDHA | c.732G>T (p.Gly244=) c.666G>T (p.Gly222=) n.361G>T c.834G>T (p.Gly278=) c.632G>T c.645G>T (p.Gly215=) n.360G>T | gnomAD v4 |
19 | g.41422250G>A | CA406012832 | BCKDHA | c.733G>A (p.Asp245Asn) c.667G>A (p.Asp223Asn) n.362G>A c.835G>A (p.Asp279Asn) c.646G>A (p.Asp216Asn) n.361G>A | |
19 | g.41422250G>C | CA406012834 | BCKDHA | c.733G>C (p.Asp245His) c.667G>C (p.Asp223His) n.362G>C c.835G>C (p.Asp279His) c.646G>C (p.Asp216His) n.361G>C | |
19 | g.41422250G>T | CA406012833 | BCKDHA | c.733G>T (p.Asp245Tyr) c.667G>T (p.Asp223Tyr) n.362G>T c.835G>T (p.Asp279Tyr) c.646G>T (p.Asp216Tyr) n.361G>T | |
19 | g.41422251A>C | CA406012835 | BCKDHA | c.734A>C (p.Asp245Ala) c.668A>C (p.Asp223Ala) n.363A>C c.836A>C (p.Asp279Ala) c.647A>C (p.Asp216Ala) n.362A>C | |
19 | g.41422251A>G | CA406012836 | BCKDHA | c.734A>G (p.Asp245Gly) c.668A>G (p.Asp223Gly) n.363A>G c.836A>G (p.Asp279Gly) c.647A>G (p.Asp216Gly) n.362A>G | |
19 | g.41422251A>T | CA406012837 | BCKDHA | c.734A>T (p.Asp245Val) c.668A>T (p.Asp223Val) n.363A>T c.836A>T (p.Asp279Val) c.647A>T (p.Asp216Val) n.362A>T | |
19 | g.41422252C>A | CA406012838 | BCKDHA | c.735C>A (p.Asp245Glu) c.669C>A (p.Asp223Glu) n.364C>A c.837C>A (p.Asp279Glu) c.648C>A (p.Asp216Glu) n.363C>A | |
19 | g.41422252C= | CA2336459024 | BCKDHA | c.735C= (p.Asp245=) c.669C= (p.Asp223=) n.364C= c.837C= (p.Asp279=) c.648C= (p.Asp216=) n.363C= | |
19 | g.41422252C>G | CA406012839 | BCKDHA | c.735C>G (p.Asp245Glu) c.669C>G (p.Asp223Glu) n.364C>G c.837C>G (p.Asp279Glu) c.648C>G (p.Asp216Glu) n.363C>G | |
19 | g.41422252C>T | CA9461250 | BCKDHA | c.735C>T (p.Asp245=) c.669C>T (p.Asp223=) n.364C>T c.837C>T (p.Asp279=) c.648C>T (p.Asp216=) n.363C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422253G>A | CA9461251 | BCKDHA | c.736G>A (p.Ala246Thr) c.670G>A (p.Ala224Thr) n.365G>A c.838G>A (p.Ala280Thr) c.649G>A (p.Ala217Thr) n.364G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41422253G>C | CA406012840 | BCKDHA | c.736G>C (p.Ala246Pro) c.670G>C (p.Ala224Pro) n.365G>C c.838G>C (p.Ala280Pro) c.649G>C (p.Ala217Pro) n.364G>C | |
19 | g.41422253G= | CA2336459025 | BCKDHA | c.736G= (p.Ala246=) c.670G= (p.Ala224=) n.365G= c.838G= (p.Ala280=) c.649G= (p.Ala217=) n.364G= | |
19 | g.41422253G>T | CA406012841 | BCKDHA | c.736G>T (p.Ala246Ser) c.670G>T (p.Ala224Ser) n.365G>T c.838G>T (p.Ala280Ser) c.649G>T (p.Ala217Ser) n.364G>T | |
19 | g.41422254C>A | CA406012842 | BCKDHA | c.737C>A (p.Ala246Asp) c.671C>A (p.Ala224Asp) n.366C>A c.839C>A (p.Ala280Asp) c.650C>A (p.Ala217Asp) n.365C>A | |
19 | g.41422254C= | CA2336459026 | BCKDHA | c.737C= (p.Ala246=) c.671C= (p.Ala224=) n.366C= c.839C= (p.Ala280=) c.650C= (p.Ala217=) n.365C= | |
19 | g.41422254C>G | CA406012843 | BCKDHA | c.737C>G (p.Ala246Gly) c.671C>G (p.Ala224Gly) n.366C>G c.839C>G (p.Ala280Gly) c.650C>G (p.Ala217Gly) n.365C>G | dbSNP |
19 | g.41422254C>T | CA406012844 | BCKDHA | c.737C>T (p.Ala246Val) c.671C>T (p.Ala224Val) n.366C>T c.839C>T (p.Ala280Val) c.650C>T (p.Ala217Val) n.365C>T | |
19 | g.41422255C>A | CA507690515 | BCKDHA | c.738C>A (p.Ala246=) c.672C>A (p.Ala224=) n.367C>A c.840C>A (p.Ala280=) c.651C>A (p.Ala217=) n.366C>A | dbSNP |
19 | g.41422255C= | CA2336459027 | BCKDHA | c.738C= (p.Ala246=) c.672C= (p.Ala224=) n.367C= c.840C= (p.Ala280=) c.651C= (p.Ala217=) n.366C= | |
19 | g.41422255C>G | CA507690512 | BCKDHA | c.738C>G (p.Ala246=) c.672C>G (p.Ala224=) n.367C>G c.840C>G (p.Ala280=) c.651C>G (p.Ala217=) n.366C>G | |
19 | g.41422255C>T | CA507690514 | BCKDHA | c.738C>T (p.Ala246=) c.672C>T (p.Ala224=) n.367C>T c.840C>T (p.Ala280=) c.651C>T (p.Ala217=) n.366C>T | |
19 | g.41422256C>A | CA406012846 | BCKDHA | c.739C>A (p.His247Asn) c.673C>A (p.His225Asn) n.368C>A c.841C>A (p.His281Asn) c.652C>A (p.His218Asn) n.367C>A | |
19 | g.41422256C>G | CA406012847 | BCKDHA | c.739C>G (p.His247Asp) c.673C>G (p.His225Asp) n.368C>G c.841C>G (p.His281Asp) c.652C>G (p.His218Asp) n.367C>G | |
19 | g.41422256C>T | CA406012845 | BCKDHA | c.739C>T (p.His247Tyr) c.673C>T (p.His225Tyr) n.368C>T c.841C>T (p.His281Tyr) c.652C>T (p.His218Tyr) n.367C>T | |
19 | g.41422257A= | CA2336459028 | BCKDHA | c.740A= (p.His247=) c.674A= (p.His225=) n.369A= c.842A= (p.His281=) c.653A= (p.His218=) n.368A= | |
19 | g.41422257A>C | CA406012848 | BCKDHA | c.740A>C (p.His247Pro) c.674A>C (p.His225Pro) n.369A>C c.842A>C (p.His281Pro) c.653A>C (p.His218Pro) n.368A>C | |
19 | g.41422257A>G | CA406012849 | BCKDHA | c.740A>G (p.His247Arg) c.674A>G (p.His225Arg) n.369A>G c.842A>G (p.His281Arg) c.653A>G (p.His218Arg) n.368A>G | ClinVar dbSNP gnomAD v4 |
19 | g.41422257A>T | CA406012850 | BCKDHA | c.740A>T (p.His247Leu) c.674A>T (p.His225Leu) n.369A>T c.842A>T (p.His281Leu) c.653A>T (p.His218Leu) n.368A>T | |
19 | g.41422258T>A | CA406012851 | BCKDHA | c.741T>A (p.His247Gln) c.675T>A (p.His225Gln) n.370T>A c.843T>A (p.His281Gln) c.654T>A (p.His218Gln) n.369T>A | dbSNP |
19 | g.41422258T>C | CA507690521 | BCKDHA | c.741T>C (p.His247=) c.675T>C (p.His225=) n.370T>C c.843T>C (p.His281=) c.654T>C (p.His218=) n.369T>C | |
19 | g.41422258T>G | CA406012852 | BCKDHA | c.741T>G (p.His247Gln) c.675T>G (p.His225Gln) n.370T>G c.843T>G (p.His281Gln) c.654T>G (p.His218Gln) n.369T>G | |
19 | g.41422258T= | CA2336459029 | BCKDHA | c.741T= (p.His247=) c.675T= (p.His225=) n.370T= c.843T= (p.His281=) c.654T= (p.His218=) n.369T= | |
19 | g.41422258dup | CA221212 | BCKDHA | c.741dup (p.Ala248CysfsTer10) c.675dup (p.Ala226CysfsTer10) n.370dup c.843dup (p.Ala282CysfsTer10) c.654dup (p.Ala219CysfsTer10) n.369dup | ClinVar dbSNP |
19 | g.41422259G>A | CA406012853 | BCKDHA | c.742G>A (p.Ala248Thr) c.676G>A (p.Ala226Thr) n.371G>A c.844G>A (p.Ala282Thr) c.655G>A (p.Ala219Thr) n.370G>A | |
19 | g.41422259G>C | CA406012855 | BCKDHA | c.742G>C (p.Ala248Pro) c.676G>C (p.Ala226Pro) n.371G>C c.844G>C (p.Ala282Pro) c.655G>C (p.Ala219Pro) n.370G>C | |
19 | g.41422259G>T | CA406012854 | BCKDHA | c.742G>T (p.Ala248Ser) c.676G>T (p.Ala226Ser) n.371G>T c.844G>T (p.Ala282Ser) c.655G>T (p.Ala219Ser) n.370G>T | |
19 | g.41422260C>A | CA406012856 | BCKDHA | c.743C>A (p.Ala248Asp) c.677C>A (p.Ala226Asp) n.372C>A c.845C>A (p.Ala282Asp) c.656C>A (p.Ala219Asp) n.371C>A | |
19 | g.41422260C= | CA2336459030 | BCKDHA | c.743C= (p.Ala248=) c.677C= (p.Ala226=) n.372C= c.845C= (p.Ala282=) c.656C= (p.Ala219=) n.371C= | |
19 | g.41422260C>G | CA406012857 | BCKDHA | c.743C>G (p.Ala248Gly) c.677C>G (p.Ala226Gly) n.372C>G c.845C>G (p.Ala282Gly) c.656C>G (p.Ala219Gly) n.371C>G | |
19 | g.41422260C>T | CA308524255 | BCKDHA | c.743C>T (p.Ala248Val) c.677C>T (p.Ala226Val) n.372C>T c.845C>T (p.Ala282Val) c.656C>T (p.Ala219Val) n.371C>T | ClinVar dbSNP |
19 | g.41422261C>A | CA507690525 | BCKDHA | c.744C>A (p.Ala248=) c.678C>A (p.Ala226=) n.373C>A c.846C>A (p.Ala282=) c.657C>A (p.Ala219=) n.372C>A | dbSNP gnomAD v4 |
19 | g.41422261C= | CA2336459031 | BCKDHA | c.744C= (p.Ala248=) c.678C= (p.Ala226=) n.373C= c.846C= (p.Ala282=) c.657C= (p.Ala219=) n.372C= | |
19 | g.41422261C>G | CA507690527 | BCKDHA | c.744C>G (p.Ala248=) c.678C>G (p.Ala226=) n.373C>G c.846C>G (p.Ala282=) c.657C>G (p.Ala219=) n.372C>G | gnomAD v4 |
19 | g.41422261C>T | CA9461252 | BCKDHA | c.744C>T (p.Ala248=) c.678C>T (p.Ala226=) n.373C>T c.846C>T (p.Ala282=) c.657C>T (p.Ala219=) n.372C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422262G>A | CA115515 | BCKDHA | c.745G>A (p.Gly249Ser) c.679G>A (p.Gly227Ser) n.374G>A c.847G>A (p.Gly283Ser) c.658G>A (p.Gly220Ser) n.373G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422262G>C | CA406012859 | BCKDHA | c.745G>C (p.Gly249Arg) c.679G>C (p.Gly227Arg) n.374G>C c.847G>C (p.Gly283Arg) c.658G>C (p.Gly220Arg) n.373G>C | |
19 | g.41422262G= | CA2336459032 | BCKDHA | c.745G= (p.Gly249=) c.679G= (p.Gly227=) n.374G= c.847G= (p.Gly283=) c.658G= (p.Gly220=) n.373G= | |
19 | g.41422262G>T | CA406012858 | BCKDHA | c.745G>T (p.Gly249Cys) c.679G>T (p.Gly227Cys) n.374G>T c.847G>T (p.Gly283Cys) c.658G>T (p.Gly220Cys) n.373G>T | ClinVar dbSNP |
19 | g.41422263G>A | CA406012860 | BCKDHA | c.746G>A (p.Gly249Asp) c.680G>A (p.Gly227Asp) n.375G>A c.848G>A (p.Gly283Asp) c.659G>A (p.Gly220Asp) n.374G>A | |
19 | g.41422263G>C | CA312362 | BCKDHA | c.746G>C (p.Gly249Ala) c.680G>C (p.Gly227Ala) n.375G>C c.848G>C (p.Gly283Ala) c.659G>C (p.Gly220Ala) n.374G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422263G= | CA2336459033 | BCKDHA | c.746G= (p.Gly249=) c.680G= (p.Gly227=) n.375G= c.848G= (p.Gly283=) c.659G= (p.Gly220=) n.374G= | |
19 | g.41422263G>T | CA406012861 | BCKDHA | c.746G>T (p.Gly249Val) c.680G>T (p.Gly227Val) n.375G>T c.848G>T (p.Gly283Val) c.659G>T (p.Gly220Val) n.374G>T | ClinVar |
19 | g.41422263_41422264del | CA2695198206 | BCKDHA | c.746_747del (p.Gly249ValfsTer8) c.680_681del (p.Gly227ValfsTer8) n.375_376del c.848_849del (p.Gly283ValfsTer8) c.659_660del (p.Gly220ValfsTer8) n.374_375del | ClinVar |
19 | g.41422264C>A | CA507690530 | BCKDHA | c.747C>A (p.Gly249=) c.681C>A (p.Gly227=) n.376C>A c.849C>A (p.Gly283=) c.660C>A (p.Gly220=) n.375C>A | |
19 | g.41422264C>G | CA507690531 | BCKDHA | c.747C>G (p.Gly249=) c.681C>G (p.Gly227=) n.376C>G c.849C>G (p.Gly283=) c.660C>G (p.Gly220=) n.375C>G | |
19 | g.41422264C>T | CA507690529 | BCKDHA | c.747C>T (p.Gly249=) c.681C>T (p.Gly227=) n.376C>T c.849C>T (p.Gly283=) c.660C>T (p.Gly220=) n.375C>T | |
19 | g.41422265T>A | CA406012862 | BCKDHA | c.748T>A (p.Phe250Ile) c.682T>A (p.Phe228Ile) n.377T>A c.850T>A (p.Phe284Ile) c.661T>A (p.Phe221Ile) n.376T>A | |
19 | g.41422265T>C | CA406012864 | BCKDHA | c.748T>C (p.Phe250Leu) c.682T>C (p.Phe228Leu) n.377T>C c.850T>C (p.Phe284Leu) c.661T>C (p.Phe221Leu) n.376T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422265T>G | CA406012863 | BCKDHA | c.748T>G (p.Phe250Val) c.682T>G (p.Phe228Val) n.377T>G c.850T>G (p.Phe284Val) c.661T>G (p.Phe221Val) n.376T>G | |
19 | g.41422265T= | CA2336459034 | BCKDHA | c.748T= (p.Phe250=) c.682T= (p.Phe228=) n.377T= c.850T= (p.Phe284=) c.661T= (p.Phe221=) n.376T= | |
19 | g.41422266T>A | CA406012865 | BCKDHA | c.749T>A (p.Phe250Tyr) c.683T>A (p.Phe228Tyr) n.378T>A c.851T>A (p.Phe284Tyr) c.662T>A (p.Phe221Tyr) n.377T>A | |
19 | g.41422266T>C | CA406012867 | BCKDHA | c.749T>C (p.Phe250Ser) c.683T>C (p.Phe228Ser) n.378T>C c.851T>C (p.Phe284Ser) c.662T>C (p.Phe221Ser) n.377T>C | |
19 | g.41422266T>G | CA406012866 | BCKDHA | c.749T>G (p.Phe250Cys) c.683T>G (p.Phe228Cys) n.378T>G c.851T>G (p.Phe284Cys) c.662T>G (p.Phe221Cys) n.377T>G | |
19 | g.41422267C>A | CA406012868 | BCKDHA | c.750C>A (p.Phe250Leu) c.684C>A (p.Phe228Leu) n.379C>A c.852C>A (p.Phe284Leu) c.663C>A (p.Phe221Leu) n.378C>A | COSMIC |
19 | g.41422267C>G | CA406012869 | BCKDHA | c.750C>G (p.Phe250Leu) c.684C>G (p.Phe228Leu) n.379C>G c.852C>G (p.Phe284Leu) c.663C>G (p.Phe221Leu) n.378C>G | |
19 | g.41422267C>T | CA507690535 | BCKDHA | c.750C>T (p.Phe250=) c.684C>T (p.Phe228=) n.379C>T c.852C>T (p.Phe284=) c.663C>T (p.Phe221=) n.378C>T | |
19 | g.41422268A>C | CA406012870 | BCKDHA | c.751A>C (p.Asn251His) c.685A>C (p.Asn229His) n.380A>C c.853A>C (p.Asn285His) c.664A>C (p.Asn222His) n.379A>C | |
19 | g.41422268A>G | CA406012871 | BCKDHA | c.751A>G (p.Asn251Asp) c.685A>G (p.Asn229Asp) n.380A>G c.853A>G (p.Asn285Asp) c.664A>G (p.Asn222Asp) n.379A>G | gnomAD v4 |
19 | g.41422268A>T | CA406012872 | BCKDHA | c.751A>T (p.Asn251Tyr) c.685A>T (p.Asn229Tyr) n.380A>T c.853A>T (p.Asn285Tyr) c.664A>T (p.Asn222Tyr) n.379A>T | |
19 | g.41422269A= | CA2336459035 | BCKDHA | c.752A= (p.Asn251=) c.686A= (p.Asn229=) n.381A= c.854A= (p.Asn285=) c.665A= (p.Asn222=) n.380A= | |
19 | g.41422269A>C | CA406012873 | BCKDHA | c.752A>C (p.Asn251Thr) c.686A>C (p.Asn229Thr) n.381A>C c.854A>C (p.Asn285Thr) c.665A>C (p.Asn222Thr) n.380A>C | |
19 | g.41422269A>G | CA9461253 | BCKDHA | c.752A>G (p.Asn251Ser) c.686A>G (p.Asn229Ser) n.381A>G c.854A>G (p.Asn285Ser) c.665A>G (p.Asn222Ser) n.380A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422269A>T | CA406012874 | BCKDHA | c.752A>T (p.Asn251Ile) c.686A>T (p.Asn229Ile) n.381A>T c.854A>T (p.Asn285Ile) c.665A>T (p.Asn222Ile) n.380A>T | |
19 | g.41422270C>A | CA406012877 | BCKDHA | c.753C>A (p.Asn251Lys) c.687C>A (p.Asn229Lys) n.382C>A c.855C>A (p.Asn285Lys) c.666C>A (p.Asn222Lys) n.381C>A | |
19 | g.41422270C= | CA2336459036 | BCKDHA | c.753C= (p.Asn251=) c.687C= (p.Asn229=) n.382C= c.855C= (p.Asn285=) c.666C= (p.Asn222=) n.381C= | |
19 | g.41422270C>G | CA406012875 | BCKDHA | c.753C>G (p.Asn251Lys) c.687C>G (p.Asn229Lys) n.382C>G c.855C>G (p.Asn285Lys) c.666C>G (p.Asn222Lys) n.381C>G | dbSNP gnomAD v4 |
19 | g.41422270C>T | CA507690542 | BCKDHA | c.753C>T (p.Asn251=) c.687C>T (p.Asn229=) n.382C>T c.855C>T (p.Asn285=) c.666C>T (p.Asn222=) n.381C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422271T>A | CA406012878 | BCKDHA | c.754T>A (p.Phe252Ile) c.688T>A (p.Phe230Ile) n.383T>A c.856T>A (p.Phe286Ile) c.667T>A (p.Phe223Ile) n.382T>A | |
19 | g.41422271T>C | CA406012879 | BCKDHA | c.754T>C (p.Phe252Leu) c.688T>C (p.Phe230Leu) n.383T>C c.856T>C (p.Phe286Leu) c.667T>C (p.Phe223Leu) n.382T>C | |
19 | g.41422271T>G | CA406012880 | BCKDHA | c.754T>G (p.Phe252Val) c.688T>G (p.Phe230Val) n.383T>G c.856T>G (p.Phe286Val) c.667T>G (p.Phe223Val) n.382T>G | |
19 | g.41422272T>A | CA406012881 | BCKDHA | c.755T>A (p.Phe252Tyr) c.689T>A (p.Phe230Tyr) n.384T>A c.857T>A (p.Phe286Tyr) c.668T>A (p.Phe223Tyr) n.383T>A | |
19 | g.41422272T>C | CA406012882 | BCKDHA | c.755T>C (p.Phe252Ser) c.689T>C (p.Phe230Ser) n.384T>C c.857T>C (p.Phe286Ser) c.668T>C (p.Phe223Ser) n.383T>C | |
19 | g.41422272T>G | CA406012883 | BCKDHA | c.755T>G (p.Phe252Cys) c.689T>G (p.Phe230Cys) n.384T>G c.857T>G (p.Phe286Cys) c.668T>G (p.Phe223Cys) n.383T>G | |
19 | g.41422272T= | CA2336459037 | BCKDHA | c.755T= (p.Phe252=) c.689T= (p.Phe230=) n.384T= c.857T= (p.Phe286=) c.668T= (p.Phe223=) n.383T= | |
19 | g.41422272_41422273insA | CA2336459038 | BCKDHA | c.755_756insA (p.Phe252LeufsTer6) c.689_690insA (p.Phe230LeufsTer6) n.384_385insA c.857_858insA (p.Phe286LeufsTer6) c.668_669insA (p.Phe223LeufsTer6) n.383_384insA | ClinVar dbSNP |
19 | g.41422273C>A | CA406012885 | BCKDHA | c.756C>A (p.Phe252Leu) c.690C>A (p.Phe230Leu) n.385C>A c.858C>A (p.Phe286Leu) c.669C>A (p.Phe223Leu) n.384C>A | |
19 | g.41422273C= | CA2336459039 | BCKDHA | c.756C= (p.Phe252=) c.690C= (p.Phe230=) n.385C= c.858C= (p.Phe286=) c.669C= (p.Phe223=) n.384C= | |
19 | g.41422273C>G | CA406012884 | BCKDHA | c.756C>G (p.Phe252Leu) c.690C>G (p.Phe230Leu) n.385C>G c.858C>G (p.Phe286Leu) c.669C>G (p.Phe223Leu) n.384C>G | gnomAD v4 |
19 | g.41422273C>T | CA9461254 | BCKDHA | c.756C>T (p.Phe252=) c.690C>T (p.Phe230=) n.385C>T c.858C>T (p.Phe286=) c.669C>T (p.Phe223=) n.384C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41422274G>A | CA9461255 | BCKDHA | c.757G>A (p.Ala253Thr) c.691G>A (p.Ala231Thr) n.386G>A c.859G>A (p.Ala287Thr) c.670G>A (p.Ala224Thr) n.385G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422274G>C | CA406012886 | BCKDHA | c.757G>C (p.Ala253Pro) c.691G>C (p.Ala231Pro) n.386G>C c.859G>C (p.Ala287Pro) c.670G>C (p.Ala224Pro) n.385G>C | |
19 | g.41422274G= | CA2336459040 | BCKDHA | c.757G= (p.Ala253=) c.691G= (p.Ala231=) n.386G= c.859G= (p.Ala287=) c.670G= (p.Ala224=) n.385G= | |
19 | g.41422274G>T | CA406012887 | BCKDHA | c.757G>T (p.Ala253Ser) c.691G>T (p.Ala231Ser) n.386G>T c.859G>T (p.Ala287Ser) c.670G>T (p.Ala224Ser) n.385G>T | COSMIC |
19 | g.41422275C>A | CA406012888 | BCKDHA | c.758C>A (p.Ala253Asp) c.692C>A (p.Ala231Asp) n.387C>A c.860C>A (p.Ala287Asp) c.671C>A (p.Ala224Asp) n.386C>A | |
19 | g.41422275C= | CA2336459041 | BCKDHA | c.758C= (p.Ala253=) c.692C= (p.Ala231=) n.387C= c.860C= (p.Ala287=) c.671C= (p.Ala224=) n.386C= | |
19 | g.41422275C>G | CA406012889 | BCKDHA | c.758C>G (p.Ala253Gly) c.692C>G (p.Ala231Gly) n.387C>G c.860C>G (p.Ala287Gly) c.671C>G (p.Ala224Gly) n.386C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422275C>T | CA406012890 | BCKDHA | c.758C>T (p.Ala253Val) c.692C>T (p.Ala231Val) n.387C>T c.860C>T (p.Ala287Val) c.671C>T (p.Ala224Val) n.386C>T | |
19 | g.41422276T>A | CA507690554 | BCKDHA | c.759T>A (p.Ala253=) c.693T>A (p.Ala231=) n.388T>A c.861T>A (p.Ala287=) c.672T>A (p.Ala224=) n.387T>A | |
19 | g.41422276T>C | CA507690556 | BCKDHA | c.759T>C (p.Ala253=) c.693T>C (p.Ala231=) n.388T>C c.861T>C (p.Ala287=) c.672T>C (p.Ala224=) n.387T>C | |
19 | g.41422276T>G | CA507690555 | BCKDHA | c.759T>G (p.Ala253=) c.693T>G (p.Ala231=) n.388T>G c.861T>G (p.Ala287=) c.672T>G (p.Ala224=) n.387T>G | |
19 | g.41422277G>A | CA406012891 | BCKDHA | c.760G>A (p.Ala254Thr) c.694G>A (p.Ala232Thr) n.389G>A c.862G>A (p.Ala288Thr) c.673G>A (p.Ala225Thr) n.388G>A | |
19 | g.41422277G>C | CA406012892 | BCKDHA | c.760G>C (p.Ala254Pro) c.694G>C (p.Ala232Pro) n.389G>C c.862G>C (p.Ala288Pro) c.673G>C (p.Ala225Pro) n.388G>C | |
19 | g.41422277G>T | CA406012893 | BCKDHA | c.760G>T (p.Ala254Ser) c.694G>T (p.Ala232Ser) n.389G>T c.862G>T (p.Ala288Ser) c.673G>T (p.Ala225Ser) n.388G>T | |
19 | g.41422278C>A | CA221213 | BCKDHA | c.761C>A (p.Ala254Asp) c.695C>A (p.Ala232Asp) n.390C>A c.863C>A (p.Ala288Asp) c.674C>A (p.Ala225Asp) n.389C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422278C= | CA2336459042 | BCKDHA | c.761C= (p.Ala254=) c.695C= (p.Ala232=) n.390C= c.863C= (p.Ala288=) c.674C= (p.Ala225=) n.389C= | |
19 | g.41422278C>G | CA406012894 | BCKDHA | c.761C>G (p.Ala254Gly) c.695C>G (p.Ala232Gly) n.390C>G c.863C>G (p.Ala288Gly) c.674C>G (p.Ala225Gly) n.389C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422278C>T | CA406012895 | BCKDHA | c.761C>T (p.Ala254Val) c.695C>T (p.Ala232Val) n.390C>T c.863C>T (p.Ala288Val) c.674C>T (p.Ala225Val) n.389C>T | |
19 | g.41422279C>A | CA507690557 | BCKDHA | c.762C>A (p.Ala254=) c.696C>A (p.Ala232=) n.391C>A c.864C>A (p.Ala288=) c.675C>A (p.Ala225=) n.390C>A | |
19 | g.41422279C= | CA2336459043 | BCKDHA | c.762C= (p.Ala254=) c.696C= (p.Ala232=) n.391C= c.864C= (p.Ala288=) c.675C= (p.Ala225=) n.390C= | |
19 | g.41422279C>G | CA507690558 | BCKDHA | c.762C>G (p.Ala254=) c.696C>G (p.Ala232=) n.391C>G c.864C>G (p.Ala288=) c.675C>G (p.Ala225=) n.390C>G | |
19 | g.41422279C>T | CA507690559 | BCKDHA | c.762C>T (p.Ala254=) c.696C>T (p.Ala232=) n.391C>T c.864C>T (p.Ala288=) c.675C>T (p.Ala225=) n.390C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422280A>C | CA406012896 | BCKDHA | c.763A>C (p.Thr255Pro) c.697A>C (p.Thr233Pro) n.392A>C c.865A>C (p.Thr289Pro) c.676A>C (p.Thr226Pro) n.391A>C | |
19 | g.41422280A>G | CA406012898 | BCKDHA | c.763A>G (p.Thr255Ala) c.697A>G (p.Thr233Ala) n.392A>G c.865A>G (p.Thr289Ala) c.676A>G (p.Thr226Ala) n.391A>G | |
19 | g.41422280A>T | CA406012897 | BCKDHA | c.763A>T (p.Thr255Ser) c.697A>T (p.Thr233Ser) n.392A>T c.865A>T (p.Thr289Ser) c.676A>T (p.Thr226Ser) n.391A>T | gnomAD v4 |
19 | g.41422281C>A | CA406012899 | BCKDHA | c.764C>A (p.Thr255Lys) c.698C>A (p.Thr233Lys) n.393C>A c.866C>A (p.Thr289Lys) c.677C>A (p.Thr226Lys) n.392C>A | |
19 | g.41422281C>G | CA406012900 | BCKDHA | c.764C>G (p.Thr255Arg) c.698C>G (p.Thr233Arg) n.393C>G c.866C>G (p.Thr289Arg) c.677C>G (p.Thr226Arg) n.392C>G | |
19 | g.41422281C>T | CA406012901 | BCKDHA | c.764C>T (p.Thr255Ile) c.698C>T (p.Thr233Ile) n.393C>T c.866C>T (p.Thr289Ile) c.677C>T (p.Thr226Ile) n.392C>T | gnomAD v4 |
19 | g.41422282A= | CA2336459044 | BCKDHA | c.765A= (p.Thr255=) c.699A= (p.Thr233=) n.394A= c.867A= (p.Thr289=) c.678A= (p.Thr226=) n.393A= | |
19 | g.41422282A>C | CA507690565 | BCKDHA | c.765A>C (p.Thr255=) c.699A>C (p.Thr233=) n.394A>C c.867A>C (p.Thr289=) c.678A>C (p.Thr226=) n.393A>C | |
19 | g.41422282A>G | CA507690566 | BCKDHA | c.765A>G (p.Thr255=) c.699A>G (p.Thr233=) n.394A>G c.867A>G (p.Thr289=) c.678A>G (p.Thr226=) n.393A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422282A>T | CA507690568 | BCKDHA | c.765A>T (p.Thr255=) c.699A>T (p.Thr233=) n.394A>T c.867A>T (p.Thr289=) c.678A>T (p.Thr226=) n.393A>T | |
19 | g.41422283C>A | CA406012902 | BCKDHA | c.766C>A (p.Leu256Ile) c.700C>A (p.Leu234Ile) n.395C>A c.868C>A (p.Leu290Ile) c.679C>A (p.Leu227Ile) n.394C>A | |
19 | g.41422283C>G | CA406012903 | BCKDHA | c.766C>G (p.Leu256Val) c.700C>G (p.Leu234Val) n.395C>G c.868C>G (p.Leu290Val) c.679C>G (p.Leu227Val) n.394C>G | |
19 | g.41422283C>T | CA406012904 | BCKDHA | c.766C>T (p.Leu256Phe) c.700C>T (p.Leu234Phe) n.395C>T c.868C>T (p.Leu290Phe) c.679C>T (p.Leu227Phe) n.394C>T | |
19 | g.41422284T>A | CA406012905 | BCKDHA | c.767T>A (p.Leu256His) c.701T>A (p.Leu234His) n.396T>A c.869T>A (p.Leu290His) c.680T>A (p.Leu227His) n.395T>A | |
19 | g.41422284T>C | CA406012906 | BCKDHA | c.767T>C (p.Leu256Pro) c.701T>C (p.Leu234Pro) n.396T>C c.869T>C (p.Leu290Pro) c.680T>C (p.Leu227Pro) n.395T>C | gnomAD v4 |
19 | g.41422284T>G | CA406012907 | BCKDHA | c.767T>G (p.Leu256Arg) c.701T>G (p.Leu234Arg) n.396T>G c.869T>G (p.Leu290Arg) c.680T>G (p.Leu227Arg) n.395T>G | |
19 | g.41422285T>A | CA507690570 | BCKDHA | c.768T>A (p.Leu256=) c.702T>A (p.Leu234=) n.397T>A c.870T>A (p.Leu290=) c.681T>A (p.Leu227=) n.396T>A | |
19 | g.41422285T>C | CA507690571 | BCKDHA | c.768T>C (p.Leu256=) c.702T>C (p.Leu234=) n.397T>C c.870T>C (p.Leu290=) c.681T>C (p.Leu227=) n.396T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422285T>G | CA507690572 | BCKDHA | c.768T>G (p.Leu256=) c.702T>G (p.Leu234=) n.397T>G c.870T>G (p.Leu290=) c.681T>G (p.Leu227=) n.396T>G | |
19 | g.41422285T= | CA2336459045 | BCKDHA | c.768T= (p.Leu256=) c.702T= (p.Leu234=) n.397T= c.870T= (p.Leu290=) c.681T= (p.Leu227=) n.396T= | |
19 | g.41422286G>A | CA406012908 | BCKDHA | c.769G>A (p.Glu257Lys) c.703G>A (p.Glu235Lys) n.398G>A c.871G>A (p.Glu291Lys) c.682G>A (p.Glu228Lys) n.397G>A | |
19 | g.41422286G>C | CA406012909 | BCKDHA | c.769G>C (p.Glu257Gln) c.703G>C (p.Glu235Gln) n.398G>C c.871G>C (p.Glu291Gln) c.682G>C (p.Glu228Gln) n.397G>C | |
19 | g.41422286G>T | CA406012910 | BCKDHA | c.769G>T (p.Glu257Ter) c.703G>T (p.Glu235Ter) n.398G>T c.871G>T (p.Glu291Ter) c.682G>T (p.Glu228Ter) n.397G>T | |
19 | g.41422286dup | CA2585307994 | BCKDHA | c.769dup (p.Glu257GlyfsTer21) c.703dup (p.Glu235GlyfsTer21) n.398dup c.871dup (p.Glu291GlyfsTer21) c.682dup (p.Glu228GlyfsTer21) n.397dup | gnomAD v4 |
19 | g.41422287A>C | CA406012913 | BCKDHA | c.770A>C (p.Glu257Ala) c.704A>C (p.Glu235Ala) n.399A>C c.872A>C (p.Glu291Ala) c.683A>C (p.Glu228Ala) n.398A>C | |
19 | g.41422287A>G | CA406012911 | BCKDHA | c.770A>G (p.Glu257Gly) c.704A>G (p.Glu235Gly) n.399A>G c.872A>G (p.Glu291Gly) c.683A>G (p.Glu228Gly) n.398A>G | |
19 | g.41422287A>T | CA406012912 | BCKDHA | c.770A>T (p.Glu257Val) c.704A>T (p.Glu235Val) n.399A>T c.872A>T (p.Glu291Val) c.683A>T (p.Glu228Val) n.398A>T | |
19 | g.41422288G>A | CA507690578 | BCKDHA | c.771G>A (p.Glu257=) c.705G>A (p.Glu235=) n.400G>A c.873G>A (p.Glu291=) c.684G>A (p.Glu228=) n.399G>A | gnomAD v4 |
19 | g.41422288G>C | CA406012914 | BCKDHA | c.771G>C (p.Glu257Asp) c.705G>C (p.Glu235Asp) n.400G>C c.873G>C (p.Glu291Asp) c.684G>C (p.Glu228Asp) n.399G>C | |
19 | g.41422288G>T | CA406012915 | BCKDHA | c.771G>T (p.Glu257Asp) c.705G>T (p.Glu235Asp) n.400G>T c.873G>T (p.Glu291Asp) c.684G>T (p.Glu228Asp) n.399G>T | |
19 | g.41422289T>A | CA406012916 | BCKDHA | c.772T>A (p.Cys258Ser) c.706T>A (p.Cys236Ser) n.401T>A c.874T>A (p.Cys292Ser) c.685T>A (p.Cys229Ser) n.400T>A | |
19 | g.41422289T>C | CA406012917 | BCKDHA | c.772T>C (p.Cys258Arg) c.706T>C (p.Cys236Arg) n.401T>C c.874T>C (p.Cys292Arg) c.685T>C (p.Cys229Arg) n.400T>C | |
19 | g.41422289T>G | CA406012918 | BCKDHA | c.772T>G (p.Cys258Gly) c.706T>G (p.Cys236Gly) n.401T>G c.874T>G (p.Cys292Gly) c.685T>G (p.Cys229Gly) n.400T>G | |
19 | g.41422290G>A | CA406012919 | BCKDHA | c.773G>A (p.Cys258Tyr) c.707G>A (p.Cys236Tyr) n.402G>A c.875G>A (p.Cys292Tyr) c.686G>A (p.Cys229Tyr) n.401G>A | |
19 | g.41422290G>C | CA406012920 | BCKDHA | c.773G>C (p.Cys258Ser) c.707G>C (p.Cys236Ser) n.402G>C c.875G>C (p.Cys292Ser) c.686G>C (p.Cys229Ser) n.401G>C | |
19 | g.41422290G>T | CA406012921 | BCKDHA | c.773G>T (p.Cys258Phe) c.707G>T (p.Cys236Phe) n.402G>T c.875G>T (p.Cys292Phe) c.686G>T (p.Cys229Phe) n.401G>T | |
19 | g.41422290_41422291delinsAA | CA2573054776 | BCKDHA | c.773_774delinsAA (p.Cys258Ter) c.707_708delinsAA (p.Cys236Ter) n.402_403delinsAA c.875_876delinsAA (p.Cys292Ter) c.686_687delinsAA (p.Cys229Ter) n.401_402delinsAA | ClinVar dbSNP |
19 | g.41422291C>A | CA406012922 | BCKDHA | c.774C>A (p.Cys258Ter) c.708C>A (p.Cys236Ter) n.403C>A c.876C>A (p.Cys292Ter) c.687C>A (p.Cys229Ter) n.402C>A | ClinVar dbSNP |
19 | g.41422291C= | CA2336459046 | BCKDHA | c.774C= (p.Cys258=) c.708C= (p.Cys236=) n.403C= c.876C= (p.Cys292=) c.687C= (p.Cys229=) n.402C= | |
19 | g.41422291C>G | CA406012923 | BCKDHA | c.774C>G (p.Cys258Trp) c.708C>G (p.Cys236Trp) n.403C>G c.876C>G (p.Cys292Trp) c.687C>G (p.Cys229Trp) n.402C>G | |
19 | g.41422291C>T | CA507690579 | BCKDHA | c.774C>T (p.Cys258=) c.708C>T (p.Cys236=) n.403C>T c.876C>T (p.Cys292=) c.687C>T (p.Cys229=) n.402C>T | |
19 | g.41422292C>A | CA406012926 | BCKDHA | c.775C>A (p.Pro259Thr) c.709C>A (p.Pro237Thr) n.404C>A c.877C>A (p.Pro293Thr) c.688C>A (p.Pro230Thr) n.403C>A | |
19 | g.41422292C>G | CA406012925 | BCKDHA | c.775C>G (p.Pro259Ala) c.709C>G (p.Pro237Ala) n.404C>G c.877C>G (p.Pro293Ala) c.688C>G (p.Pro230Ala) n.403C>G | |
19 | g.41422292C>T | CA406012924 | BCKDHA | c.775C>T (p.Pro259Ser) c.709C>T (p.Pro237Ser) n.404C>T c.877C>T (p.Pro293Ser) c.688C>T (p.Pro230Ser) n.403C>T | |
19 | g.41422293C>A | CA406012927 | BCKDHA | c.776C>A (p.Pro259His) c.710C>A (p.Pro237His) n.405C>A c.878C>A (p.Pro293His) c.689C>A (p.Pro230His) n.404C>A | |
19 | g.41422293C>G | CA406012928 | BCKDHA | c.776C>G (p.Pro259Arg) c.710C>G (p.Pro237Arg) n.405C>G c.878C>G (p.Pro293Arg) c.689C>G (p.Pro230Arg) n.404C>G | |
19 | g.41422293C>T | CA406012929 | BCKDHA | c.776C>T (p.Pro259Leu) c.710C>T (p.Pro237Leu) n.405C>T c.878C>T (p.Pro293Leu) c.689C>T (p.Pro230Leu) n.404C>T | ClinVar dbSNP gnomAD v4 |
19 | g.41422294C>A | CA507690582 | BCKDHA | c.777C>A (p.Pro259=) c.711C>A (p.Pro237=) n.406C>A c.879C>A (p.Pro293=) c.690C>A (p.Pro230=) n.405C>A | |
19 | g.41422294C>G | CA507690583 | BCKDHA | c.777C>G (p.Pro259=) c.711C>G (p.Pro237=) n.406C>G c.879C>G (p.Pro293=) c.690C>G (p.Pro230=) n.405C>G | |
19 | g.41422294C>T | CA507690585 | BCKDHA | c.777C>T (p.Pro259=) c.711C>T (p.Pro237=) n.406C>T c.879C>T (p.Pro293=) c.690C>T (p.Pro230=) n.405C>T | ClinVar |
19 | g.41422298_41422300del | CA2585307995 | BCKDHA | c.781_783del (p.Ile261del) c.715_717del (p.Ile239del) n.410_412del c.883_885del (p.Ile295del) c.694_696del (p.Ile232del) n.409_411del | gnomAD v4 |
19 | g.41422295A>C | CA406012930 | BCKDHA | c.778A>C (p.Ile260Leu) c.712A>C (p.Ile238Leu) n.407A>C c.880A>C (p.Ile294Leu) c.691A>C (p.Ile231Leu) n.406A>C | |
19 | g.41422295A>G | CA406012931 | BCKDHA | c.778A>G (p.Ile260Val) c.712A>G (p.Ile238Val) n.407A>G c.880A>G (p.Ile294Val) c.691A>G (p.Ile231Val) n.406A>G | |
19 | g.41422295A>T | CA406012932 | BCKDHA | c.778A>T (p.Ile260Phe) c.712A>T (p.Ile238Phe) n.407A>T c.880A>T (p.Ile294Phe) c.691A>T (p.Ile231Phe) n.406A>T | |
19 | g.41422296T>A | CA406012933 | BCKDHA | c.779T>A (p.Ile260Asn) c.713T>A (p.Ile238Asn) n.408T>A c.881T>A (p.Ile294Asn) c.692T>A (p.Ile231Asn) n.407T>A | |
19 | g.41422296T>C | CA406012934 | BCKDHA | c.779T>C (p.Ile260Thr) c.713T>C (p.Ile238Thr) n.408T>C c.881T>C (p.Ile294Thr) c.692T>C (p.Ile231Thr) n.407T>C | |
19 | g.41422296T>G | CA406012935 | BCKDHA | c.779T>G (p.Ile260Ser) c.713T>G (p.Ile238Ser) n.408T>G c.881T>G (p.Ile294Ser) c.692T>G (p.Ile231Ser) n.407T>G | |
19 | g.41422297C>A | CA507690591 | BCKDHA | c.780C>A (p.Ile260=) c.714C>A (p.Ile238=) n.409C>A c.882C>A (p.Ile294=) c.693C>A (p.Ile231=) n.408C>A | |
19 | g.41422297C= | CA2336459047 | BCKDHA | c.780C= (p.Ile260=) c.714C= (p.Ile238=) n.409C= c.882C= (p.Ile294=) c.693C= (p.Ile231=) n.408C= | |
19 | g.41422297C>G | CA406012936 | BCKDHA | c.780C>G (p.Ile260Met) c.714C>G (p.Ile238Met) n.409C>G c.882C>G (p.Ile294Met) c.693C>G (p.Ile231Met) n.408C>G | dbSNP |
19 | g.41422297C>T | CA507690589 | BCKDHA | c.780C>T (p.Ile260=) c.714C>T (p.Ile238=) n.409C>T c.882C>T (p.Ile294=) c.693C>T (p.Ile231=) n.408C>T | |
19 | g.41422298A= | CA2336459048 | BCKDHA | c.781A= (p.Ile261=) c.715A= (p.Ile239=) n.410A= c.883A= (p.Ile295=) c.694A= (p.Ile232=) n.409A= | |
19 | g.41422298A>C | CA406012937 | BCKDHA | c.781A>C (p.Ile261Leu) c.715A>C (p.Ile239Leu) n.410A>C c.883A>C (p.Ile295Leu) c.694A>C (p.Ile232Leu) n.409A>C | |
19 | g.41422298A>G | CA308524317 | BCKDHA | c.781A>G (p.Ile261Val) c.715A>G (p.Ile239Val) n.410A>G c.883A>G (p.Ile295Val) c.694A>G (p.Ile232Val) n.409A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422298A>T | CA406012938 | BCKDHA | c.781A>T (p.Ile261Phe) c.715A>T (p.Ile239Phe) n.410A>T c.883A>T (p.Ile295Phe) c.694A>T (p.Ile232Phe) n.409A>T | |
19 | g.41422298_41422301delinsATCT | CA2336459049 | BCKDHA | c.781_784delinsATCT (p.Ile261=) c.715_718delinsATCT (p.Ile239=) n.410_413delinsATCT c.883_886delinsATCT (p.Ile295=) c.694_697delinsATCT (p.Ile232=) n.409_412delinsATCT | |
19 | g.41422299T>A | CA406012942 | BCKDHA | c.782T>A (p.Ile261Asn) c.716T>A (p.Ile239Asn) n.411T>A c.884T>A (p.Ile295Asn) c.695T>A (p.Ile232Asn) n.410T>A | |
19 | g.41422299T>C | CA406012941 | BCKDHA | c.782T>C (p.Ile261Thr) c.716T>C (p.Ile239Thr) n.411T>C c.884T>C (p.Ile295Thr) c.695T>C (p.Ile232Thr) n.410T>C | |
19 | g.41422299T>G | CA406012940 | BCKDHA | c.782T>G (p.Ile261Ser) c.716T>G (p.Ile239Ser) n.411T>G c.884T>G (p.Ile295Ser) c.695T>G (p.Ile232Ser) n.410T>G | |
19 | g.41422305_41422307del | CA221215 | BCKDHA | c.788_790del (p.Phe263del) c.722_724del (p.Phe241del) n.417_419del c.890_892del (p.Phe297del) c.701_703del (p.Phe234del) n.416_418del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |