Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41410733C>A | CA406004738 | BCKDHA | c.205C>A (p.Gln69Lys) c.139C>A (p.Gln47Lys) n.225C>A c.307C>A (p.Gln103Lys) c.12C>A n.447C>A | |
19 | g.41410733C>G | CA406004739 | BCKDHA | c.205C>G (p.Gln69Glu) c.139C>G (p.Gln47Glu) n.225C>G c.307C>G (p.Gln103Glu) c.12C>G n.447C>G | |
19 | g.41410733C>T | CA406004740 | BCKDHA | c.205C>T (p.Gln69Ter) c.139C>T (p.Gln47Ter) n.225C>T c.307C>T (p.Gln103Ter) c.12C>T n.447C>T | |
19 | g.41410734A>C | CA406004741 | BCKDHA | c.206A>C (p.Gln69Pro) c.140A>C (p.Gln47Pro) n.226A>C c.308A>C (p.Gln103Pro) c.13A>C n.448A>C | |
19 | g.41410734A>G | CA406004742 | BCKDHA | c.206A>G (p.Gln69Arg) c.140A>G (p.Gln47Arg) n.226A>G c.308A>G (p.Gln103Arg) c.13A>G n.448A>G | |
19 | g.41410734A>T | CA406004743 | BCKDHA | c.206A>T (p.Gln69Leu) c.140A>T (p.Gln47Leu) n.226A>T c.308A>T (p.Gln103Leu) c.13A>T n.448A>T | |
19 | g.41410735G>A | CA507555440 | BCKDHA | c.207G>A (p.Gln69=) c.141G>A (p.Gln47=) n.227G>A c.309G>A (p.Gln103=) c.14G>A n.449G>A | |
19 | g.41410735G>C | CA406004744 | BCKDHA | c.207G>C (p.Gln69His) c.141G>C (p.Gln47His) n.227G>C c.309G>C (p.Gln103His) c.14G>C n.449G>C | |
19 | g.41410735G>T | CA406004745 | BCKDHA | c.207G>T (p.Gln69His) c.141G>T (p.Gln47His) n.227G>T c.309G>T (p.Gln103His) c.14G>T n.449G>T | |
19 | g.41410735_41410736delinsGC | CA2336453799 | BCKDHA | c.207_208delinsGC (p.Gln69=) c.141_142delinsGC (p.Gln47=) n.227_228delinsGC c.309_310delinsGC (p.Gln103=) c.14_15delinsGC n.449_450delinsGC | |
19 | g.41410736C>A | CA406004746 | BCKDHA | c.208C>A (p.Pro70Thr) c.142C>A (p.Pro48Thr) n.228C>A c.310C>A (p.Pro104Thr) c.15C>A n.450C>A | |
19 | g.41410736C= | CA2336453800 | BCKDHA | c.208C= (p.Pro70=) c.142C= (p.Pro48=) n.228C= c.310C= (p.Pro104=) c.15C= n.450C= | |
19 | g.41410736C>G | CA406004747 | BCKDHA | c.208C>G (p.Pro70Ala) c.142C>G (p.Pro48Ala) n.228C>G c.310C>G (p.Pro104Ala) c.15C>G n.450C>G | |
19 | g.41410736C>T | CA9461025 | BCKDHA | c.208C>T (p.Pro70Ser) c.142C>T (p.Pro48Ser) n.228C>T c.310C>T (p.Pro104Ser) c.15C>T n.450C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41410738del | CA633470450 | BCKDHA | c.210del (p.Asn71ThrfsTer?) c.144del (p.Asn49ThrfsTer?) n.230del c.312del (p.Asn105ThrfsTer?) c.17del n.452del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41410737C>A | CA406004748 | BCKDHA | c.209C>A (p.Pro70His) c.143C>A (p.Pro48His) n.229C>A c.311C>A (p.Pro104His) c.16C>A n.451C>A | |
19 | g.41410737C>G | CA406004749 | BCKDHA | c.209C>G (p.Pro70Arg) c.143C>G (p.Pro48Arg) n.229C>G c.311C>G (p.Pro104Arg) c.16C>G n.451C>G | |
19 | g.41410737C>T | CA406004750 | BCKDHA | c.209C>T (p.Pro70Leu) c.143C>T (p.Pro48Leu) n.229C>T c.311C>T (p.Pro104Leu) c.16C>T n.451C>T | |
19 | g.41410738C>A | CA507555442 | BCKDHA | c.210C>A (p.Pro70=) c.144C>A (p.Pro48=) n.230C>A c.312C>A (p.Pro104=) c.17C>A n.452C>A | gnomAD v4 |
19 | g.41410738C>G | CA507555444 | BCKDHA | c.210C>G (p.Pro70=) c.144C>G (p.Pro48=) n.230C>G c.312C>G (p.Pro104=) c.17C>G n.452C>G | |
19 | g.41410738C>T | CA507555445 | BCKDHA | c.210C>T (p.Pro70=) c.144C>T (p.Pro48=) n.230C>T c.312C>T (p.Pro104=) c.17C>T n.452C>T | ClinVar |
19 | g.41410739A>C | CA406004751 | BCKDHA | c.211A>C (p.Asn71His) c.145A>C (p.Asn49His) n.231A>C c.313A>C (p.Asn105His) c.18A>C n.453A>C | |
19 | g.41410739A>G | CA406004752 | BCKDHA | c.211A>G (p.Asn71Asp) c.145A>G (p.Asn49Asp) n.231A>G c.313A>G (p.Asn105Asp) c.18A>G n.453A>G | |
19 | g.41410739A>T | CA406004753 | BCKDHA | c.211A>T (p.Asn71Tyr) c.145A>T (p.Asn49Tyr) n.231A>T c.313A>T (p.Asn105Tyr) c.18A>T n.453A>T | |
19 | g.41410740A= | CA2336453801 | BCKDHA | c.212A= (p.Asn71=) c.146A= (p.Asn49=) n.232A= c.314A= (p.Asn105=) c.19A= n.454A= | |
19 | g.41410740A>C | CA406004754 | BCKDHA | c.212A>C (p.Asn71Thr) c.146A>C (p.Asn49Thr) n.232A>C c.314A>C (p.Asn105Thr) c.19A>C n.454A>C | |
19 | g.41410740A>G | CA9461026 | BCKDHA | c.212A>G (p.Asn71Ser) c.146A>G (p.Asn49Ser) n.232A>G c.314A>G (p.Asn105Ser) c.19A>G n.454A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410740A>T | CA406004755 | BCKDHA | c.212A>T (p.Asn71Ile) c.146A>T (p.Asn49Ile) n.232A>T c.314A>T (p.Asn105Ile) c.19A>T n.454A>T | |
19 | g.41410741C>A | CA406004756 | BCKDHA | c.213C>A (p.Asn71Lys) c.147C>A (p.Asn49Lys) n.233C>A c.315C>A (p.Asn105Lys) c.20C>A n.455C>A | |
19 | g.41410741C= | CA2336453802 | BCKDHA | c.213C= (p.Asn71=) c.147C= (p.Asn49=) n.233C= c.315C= (p.Asn105=) c.20C= n.455C= | |
19 | g.41410741C>G | CA406004757 | BCKDHA | c.213C>G (p.Asn71Lys) c.147C>G (p.Asn49Lys) n.233C>G c.315C>G (p.Asn105Lys) c.20C>G n.455C>G | |
19 | g.41410741C>T | CA9461027 | BCKDHA | c.213C>T (p.Asn71=) c.147C>T (p.Asn49=) n.233C>T c.315C>T (p.Asn105=) c.20C>T n.455C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41410742G>A | CA9461028 | BCKDHA | c.214G>A (p.Val72Ile) c.148G>A (p.Val50Ile) n.234G>A c.316G>A (p.Val106Ile) c.21G>A n.456G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41410742G>C | CA406004758 | BCKDHA | c.214G>C (p.Val72Leu) c.148G>C (p.Val50Leu) n.234G>C c.316G>C (p.Val106Leu) c.21G>C n.456G>C | |
19 | g.41410742G= | CA2336453803 | BCKDHA | c.214G= (p.Val72=) c.148G= (p.Val50=) n.234G= c.316G= (p.Val106=) c.21G= n.456G= | |
19 | g.41410742G>T | CA406004759 | BCKDHA | c.214G>T (p.Val72Phe) c.148G>T (p.Val50Phe) n.234G>T c.316G>T (p.Val106Phe) c.21G>T n.456G>T | |
19 | g.41410743T>A | CA406004760 | BCKDHA | c.215T>A (p.Val72Asp) c.149T>A (p.Val50Asp) n.235T>A c.317T>A (p.Val106Asp) c.22T>A n.457T>A | |
19 | g.41410743T>C | CA406004761 | BCKDHA | c.215T>C (p.Val72Ala) c.149T>C (p.Val50Ala) n.235T>C c.317T>C (p.Val106Ala) c.22T>C n.457T>C | |
19 | g.41410743T>G | CA406004762 | BCKDHA | c.215T>G (p.Val72Gly) c.149T>G (p.Val50Gly) n.235T>G c.317T>G (p.Val106Gly) c.22T>G n.457T>G | |
19 | g.41410744C>A | CA507555454 | BCKDHA | c.216C>A (p.Val72=) c.150C>A (p.Val50=) n.236C>A c.318C>A (p.Val106=) c.23C>A n.458C>A | |
19 | g.41410744C>G | CA507555453 | BCKDHA | c.216C>G (p.Val72=) c.150C>G (p.Val50=) n.236C>G c.318C>G (p.Val106=) c.23C>G n.458C>G | ClinVar |
19 | g.41410744C>T | CA507555452 | BCKDHA | c.216C>T (p.Val72=) c.150C>T (p.Val50=) n.236C>T c.318C>T (p.Val106=) c.23C>T n.458C>T | |
19 | g.41410745A= | CA2336453804 | BCKDHA | c.217A= (p.Ile73=) c.151A= (p.Ile51=) n.237A= c.319A= (p.Ile107=) c.24A= n.459A= | |
19 | g.41410745A>C | CA406004763 | BCKDHA | c.217A>C (p.Ile73Leu) c.151A>C (p.Ile51Leu) n.237A>C c.319A>C (p.Ile107Leu) c.24A>C n.459A>C | |
19 | g.41410745A>G | CA9461029 | BCKDHA | c.217A>G (p.Ile73Val) c.151A>G (p.Ile51Val) n.237A>G c.319A>G (p.Ile107Val) c.24A>G n.459A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410745A>T | CA406004764 | BCKDHA | c.217A>T (p.Ile73Phe) c.151A>T (p.Ile51Phe) n.237A>T c.319A>T (p.Ile107Phe) c.24A>T n.459A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41410746T>A | CA406004765 | BCKDHA | c.218T>A (p.Ile73Asn) c.152T>A (p.Ile51Asn) n.238T>A c.320T>A (p.Ile107Asn) c.25T>A n.460T>A | |
19 | g.41410746T>C | CA406004766 | BCKDHA | c.218T>C (p.Ile73Thr) c.152T>C (p.Ile51Thr) n.238T>C c.320T>C (p.Ile107Thr) c.25T>C n.460T>C | |
19 | g.41410746T>G | CA406004767 | BCKDHA | c.218T>G (p.Ile73Ser) c.152T>G (p.Ile51Ser) n.238T>G c.320T>G (p.Ile107Ser) c.25T>G n.460T>G | |
19 | g.41410747C>A | CA507555459 | BCKDHA | c.219C>A (p.Ile73=) c.153C>A (p.Ile51=) n.239C>A c.321C>A (p.Ile107=) c.26C>A n.461C>A | |
19 | g.41410747C>G | CA406004768 | BCKDHA | c.219C>G (p.Ile73Met) c.153C>G (p.Ile51Met) n.239C>G c.321C>G (p.Ile107Met) c.26C>G n.461C>G | gnomAD v4 |
19 | g.41410747C>T | CA507555461 | BCKDHA | c.219C>T (p.Ile73=) c.153C>T (p.Ile51=) n.239C>T c.321C>T (p.Ile107=) c.26C>T n.461C>T | gnomAD v4 |
19 | g.41410748T>A | CA406004771 | BCKDHA | c.220T>A (p.Ser74Thr) c.154T>A (p.Ser52Thr) n.240T>A c.322T>A (p.Ser108Thr) c.27T>A n.462T>A | |
19 | g.41410748T>C | CA406004770 | BCKDHA | c.220T>C (p.Ser74Pro) c.154T>C (p.Ser52Pro) n.240T>C c.322T>C (p.Ser108Pro) c.27T>C n.462T>C | |
19 | g.41410748T>G | CA406004769 | BCKDHA | c.220T>G (p.Ser74Ala) c.154T>G (p.Ser52Ala) n.240T>G c.322T>G (p.Ser108Ala) c.27T>G n.462T>G | |
19 | g.41410749C>A | CA406004772 | BCKDHA | c.221C>A (p.Ser74Tyr) c.155C>A (p.Ser52Tyr) n.241C>A c.323C>A (p.Ser108Tyr) c.28C>A n.463C>A | |
19 | g.41410749C>G | CA406004773 | BCKDHA | c.221C>G (p.Ser74Cys) c.155C>G (p.Ser52Cys) n.241C>G c.323C>G (p.Ser108Cys) c.28C>G n.463C>G | |
19 | g.41410749C>T | CA406004774 | BCKDHA | c.221C>T (p.Ser74Phe) c.155C>T (p.Ser52Phe) n.241C>T c.323C>T (p.Ser108Phe) c.28C>T n.463C>T | COSMIC |
19 | g.41410750T>A | CA507555463 | BCKDHA | c.222T>A (p.Ser74=) c.156T>A (p.Ser52=) n.242T>A c.324T>A (p.Ser108=) c.29T>A n.464T>A | |
19 | g.41410750T>C | CA507555464 | BCKDHA | c.222T>C (p.Ser74=) c.156T>C (p.Ser52=) n.242T>C c.324T>C (p.Ser108=) c.29T>C n.464T>C | dbSNP gnomAD v4 |
19 | g.41410750T>G | CA507555465 | BCKDHA | c.222T>G (p.Ser74=) c.156T>G (p.Ser52=) n.242T>G c.324T>G (p.Ser108=) c.29T>G n.464T>G | ClinVar |
19 | g.41410750T= | CA2336453805 | BCKDHA | c.222T= (p.Ser74=) c.156T= (p.Ser52=) n.242T= c.324T= (p.Ser108=) c.29T= n.464T= | |
19 | g.41410751G>A | CA308515340 | BCKDHA | c.223G>A (p.Gly75Arg) c.157G>A (p.Gly53Arg) n.243G>A c.325G>A (p.Gly109Arg) c.30G>A n.465G>A | dbSNP gnomAD v4 |
19 | g.41410751G>C | CA406004775 | BCKDHA | c.223G>C (p.Gly75Arg) c.157G>C (p.Gly53Arg) n.243G>C c.325G>C (p.Gly109Arg) c.30G>C n.465G>C | |
19 | g.41410751G= | CA2336453806 | BCKDHA | c.223G= (p.Gly75=) c.157G= (p.Gly53=) n.243G= c.325G= (p.Gly109=) c.30G= n.465G= | |
19 | g.41410751G>T | CA406004776 | BCKDHA | c.223G>T (p.Gly75Ter) c.157G>T (p.Gly53Ter) n.243G>T c.325G>T (p.Gly109Ter) c.30G>T n.465G>T | |
19 | g.41410752G>A | CA406004777 | BCKDHA | c.224G>A (p.Gly75Glu) c.158G>A (p.Gly53Glu) n.244G>A c.326G>A (p.Gly109Glu) c.31G>A n.466G>A | |
19 | g.41410752G>C | CA406004778 | BCKDHA | c.224G>C (p.Gly75Ala) c.158G>C (p.Gly53Ala) n.244G>C c.326G>C (p.Gly109Ala) c.31G>C n.466G>C | |
19 | g.41410752G>T | CA406004779 | BCKDHA | c.224G>T (p.Gly75Val) c.158G>T (p.Gly53Val) n.244G>T c.326G>T (p.Gly109Val) c.31G>T n.466G>T | |
19 | g.41410753A= | CA2336453807 | BCKDHA | c.225A= (p.Gly75=) c.159A= (p.Gly53=) n.245A= c.327A= (p.Gly109=) c.32A= n.467A= | |
19 | g.41410753A>C | CA507555468 | BCKDHA | c.225A>C (p.Gly75=) c.159A>C (p.Gly53=) n.245A>C c.327A>C (p.Gly109=) c.32A>C n.467A>C | dbSNP |
19 | g.41410753A>G | CA507555469 | BCKDHA | c.225A>G (p.Gly75=) c.159A>G (p.Gly53=) n.245A>G c.327A>G (p.Gly109=) c.32A>G n.467A>G | |
19 | g.41410753A>T | CA507555472 | BCKDHA | c.225A>T (p.Gly75=) c.159A>T (p.Gly53=) n.245A>T c.327A>T (p.Gly109=) c.32A>T n.467A>T | |
19 | g.41410754A= | CA2336453808 | BCKDHA | c.226A= (p.Ile76=) c.160A= (p.Ile54=) n.246A= c.328A= (p.Ile110=) c.33A= n.468A= | |
19 | g.41410754A>C | CA406004780 | BCKDHA | c.226A>C (p.Ile76Leu) c.160A>C (p.Ile54Leu) n.246A>C c.328A>C (p.Ile110Leu) c.33A>C n.468A>C | |
19 | g.41410754A>G | CA406004781 | BCKDHA | c.226A>G (p.Ile76Val) c.160A>G (p.Ile54Val) n.246A>G c.328A>G (p.Ile110Val) c.33A>G n.468A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41410754A>T | CA406004782 | BCKDHA | c.226A>T (p.Ile76Phe) c.160A>T (p.Ile54Phe) n.246A>T c.328A>T (p.Ile110Phe) c.33A>T n.468A>T | |
19 | g.41410755T>A | CA406004785 | BCKDHA | c.227T>A (p.Ile76Asn) c.161T>A (p.Ile54Asn) n.247T>A c.329T>A (p.Ile110Asn) c.34T>A n.469T>A | |
19 | g.41410755T>C | CA406004784 | BCKDHA | c.227T>C (p.Ile76Thr) c.161T>C (p.Ile54Thr) n.247T>C c.329T>C (p.Ile110Thr) c.34T>C n.469T>C | |
19 | g.41410755T>G | CA406004783 | BCKDHA | c.227T>G (p.Ile76Ser) c.161T>G (p.Ile54Ser) n.247T>G c.329T>G (p.Ile110Ser) c.34T>G n.469T>G | |
19 | g.41410756C>A | CA507555475 | BCKDHA | c.228C>A (p.Ile76=) c.162C>A (p.Ile54=) n.248C>A c.330C>A (p.Ile110=) c.35C>A n.470C>A | |
19 | g.41410756C>G | CA406004786 | BCKDHA | c.228C>G (p.Ile76Met) c.162C>G (p.Ile54Met) n.248C>G c.330C>G (p.Ile110Met) c.35C>G n.470C>G | |
19 | g.41410756C>T | CA507555477 | BCKDHA | c.228C>T (p.Ile76=) c.162C>T (p.Ile54=) n.248C>T c.330C>T (p.Ile110=) c.35C>T n.470C>T | ClinVar |
19 | g.41410757C>A | CA406004787 | BCKDHA | c.229C>A (p.Pro77Thr) c.163C>A (p.Pro55Thr) n.249C>A c.331C>A (p.Pro111Thr) c.36C>A n.471C>A | |
19 | g.41410757C>G | CA406004789 | BCKDHA | c.229C>G (p.Pro77Ala) c.163C>G (p.Pro55Ala) n.249C>G c.331C>G (p.Pro111Ala) c.36C>G n.471C>G | |
19 | g.41410757C>T | CA406004791 | BCKDHA | c.229C>T (p.Pro77Ser) c.163C>T (p.Pro55Ser) n.249C>T c.331C>T (p.Pro111Ser) c.36C>T n.471C>T | |
19 | g.41410758C>A | CA406004792 | BCKDHA | c.230C>A (p.Pro77His) c.164C>A (p.Pro55His) n.250C>A c.332C>A (p.Pro111His) c.37C>A n.472C>A | |
19 | g.41410758C>G | CA406004795 | BCKDHA | c.230C>G (p.Pro77Arg) c.164C>G (p.Pro55Arg) n.250C>G c.332C>G (p.Pro111Arg) c.37C>G n.472C>G | |
19 | g.41410758C>T | CA406004797 | BCKDHA | c.230C>T (p.Pro77Leu) c.164C>T (p.Pro55Leu) n.250C>T c.332C>T (p.Pro111Leu) c.37C>T n.472C>T | gnomAD v4 |
19 | g.41410759C>A | CA507555480 | BCKDHA | c.231C>A (p.Pro77=) c.165C>A (p.Pro55=) n.251C>A c.333C>A (p.Pro111=) c.38C>A n.473C>A | ClinVar |
19 | g.41410759C>G | CA507555481 | BCKDHA | c.231C>G (p.Pro77=) c.165C>G (p.Pro55=) n.251C>G c.333C>G (p.Pro111=) c.38C>G n.473C>G | ClinVar dbSNP |
19 | g.41410759C>T | CA507555482 | BCKDHA | c.231C>T (p.Pro77=) c.165C>T (p.Pro55=) n.251C>T c.333C>T (p.Pro111=) c.38C>T n.473C>T | |
19 | g.41410760A= | CA2336453809 | BCKDHA | c.232A= (p.Ile78=) c.166A= (p.Ile56=) n.252A= c.334A= (p.Ile112=) c.39A= n.474A= | |
19 | g.41410760A>C | CA406004800 | BCKDHA | c.232A>C (p.Ile78Leu) c.166A>C (p.Ile56Leu) n.252A>C c.334A>C (p.Ile112Leu) c.39A>C n.474A>C | |
19 | g.41410760A>G | CA406004804 | BCKDHA | c.232A>G (p.Ile78Val) c.166A>G (p.Ile56Val) n.252A>G c.334A>G (p.Ile112Val) c.39A>G n.474A>G | dbSNP gnomAD v4 |
19 | g.41410760A>T | CA406004802 | BCKDHA | c.232A>T (p.Ile78Phe) c.166A>T (p.Ile56Phe) n.252A>T c.334A>T (p.Ile112Phe) c.39A>T n.474A>T | |
19 | g.41410761T>A | CA406004807 | BCKDHA | c.233T>A (p.Ile78Asn) c.167T>A (p.Ile56Asn) n.253T>A c.335T>A (p.Ile112Asn) c.40T>A n.475T>A | |
19 | g.41410761T>C | CA406004809 | BCKDHA | c.233T>C (p.Ile78Thr) c.167T>C (p.Ile56Thr) n.253T>C c.335T>C (p.Ile112Thr) c.40T>C n.475T>C | |
19 | g.41410761T>G | CA406004811 | BCKDHA | c.233T>G (p.Ile78Ser) c.167T>G (p.Ile56Ser) n.253T>G c.335T>G (p.Ile112Ser) c.40T>G n.475T>G | |
19 | g.41410762C>A | CA507555486 | BCKDHA | c.234C>A (p.Ile78=) c.168C>A (p.Ile56=) n.254C>A c.336C>A (p.Ile112=) c.41C>A n.476C>A | |
19 | g.41410762C>G | CA406004813 | BCKDHA | c.234C>G (p.Ile78Met) c.168C>G (p.Ile56Met) n.254C>G c.336C>G (p.Ile112Met) c.41C>G n.476C>G | |
19 | g.41410762C>T | CA507555487 | BCKDHA | c.234C>T (p.Ile78=) c.168C>T (p.Ile56=) n.254C>T c.336C>T (p.Ile112=) c.41C>T n.476C>T | |
19 | g.41410763T>A | CA406004821 | BCKDHA | c.235T>A (p.Tyr79Asn) c.169T>A (p.Tyr57Asn) n.255T>A c.337T>A (p.Tyr113Asn) c.42T>A n.477T>A | |
19 | g.41410763T>C | CA406004816 | BCKDHA | c.235T>C (p.Tyr79His) c.169T>C (p.Tyr57His) n.255T>C c.337T>C (p.Tyr113His) c.42T>C n.477T>C | |
19 | g.41410763T>G | CA406004819 | BCKDHA | c.235T>G (p.Tyr79Asp) c.169T>G (p.Tyr57Asp) n.255T>G c.337T>G (p.Tyr113Asp) c.42T>G n.477T>G | |
19 | g.41410764A>C | CA406004824 | BCKDHA | c.236A>C (p.Tyr79Ser) c.170A>C (p.Tyr57Ser) n.256A>C c.338A>C (p.Tyr113Ser) c.43A>C n.478A>C | |
19 | g.41410764A>G | CA406004826 | BCKDHA | c.236A>G (p.Tyr79Cys) c.170A>G (p.Tyr57Cys) n.256A>G c.338A>G (p.Tyr113Cys) c.43A>G n.478A>G | |
19 | g.41410764A>T | CA406004828 | BCKDHA | c.236A>T (p.Tyr79Phe) c.170A>T (p.Tyr57Phe) n.256A>T c.338A>T (p.Tyr113Phe) c.43A>T n.478A>T | |
19 | g.41410765C>A | CA406004830 | BCKDHA | c.237C>A (p.Tyr79Ter) c.171C>A (p.Tyr57Ter) n.257C>A c.339C>A (p.Tyr113Ter) c.44C>A n.479C>A | |
19 | g.41410765C>G | CA406004832 | BCKDHA | c.237C>G (p.Tyr79Ter) c.171C>G (p.Tyr57Ter) n.257C>G c.339C>G (p.Tyr113Ter) c.44C>G n.479C>G | |
19 | g.41410765C>T | CA507555492 | BCKDHA | c.237C>T (p.Tyr79=) c.171C>T (p.Tyr57=) n.257C>T c.339C>T (p.Tyr113=) c.44C>T n.479C>T | |
19 | g.41410766C>A | CA406004835 | BCKDHA | c.238C>A (p.Arg80Ser) c.172C>A (p.Arg58Ser) n.258C>A c.340C>A (p.Arg114Ser) c.45C>A n.480C>A | |
19 | g.41410766C= | CA2336453810 | BCKDHA | c.238C= (p.Arg80=) c.172C= (p.Arg58=) n.258C= c.340C= (p.Arg114=) c.45C= n.480C= | |
19 | g.41410766C>G | CA406004837 | BCKDHA | c.238C>G (p.Arg80Gly) c.172C>G (p.Arg58Gly) n.258C>G c.340C>G (p.Arg114Gly) c.45C>G n.480C>G | |
19 | g.41410766C>T | CA9461030 | BCKDHA | c.238C>T (p.Arg80Cys) c.172C>T (p.Arg58Cys) n.258C>T c.340C>T (p.Arg114Cys) c.45C>T n.480C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41410767G>A | CA9461031 | BCKDHA | c.239G>A (p.Arg80His) c.173G>A (p.Arg58His) n.259G>A c.341G>A (p.Arg114His) c.46G>A n.481G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41410767G>C | CA406004842 | BCKDHA | c.239G>C (p.Arg80Pro) c.173G>C (p.Arg58Pro) n.259G>C c.341G>C (p.Arg114Pro) c.46G>C n.481G>C | |
19 | g.41410767G= | CA2336453811 | BCKDHA | c.239G= (p.Arg80=) c.173G= (p.Arg58=) n.259G= c.341G= (p.Arg114=) c.46G= n.481G= | |
19 | g.41410767G>T | CA406004844 | BCKDHA | c.239G>T (p.Arg80Leu) c.173G>T (p.Arg58Leu) n.259G>T c.341G>T (p.Arg114Leu) c.46G>T n.481G>T | |
19 | g.41410768C>A | CA507555498 | BCKDHA | c.240C>A (p.Arg80=) c.174C>A (p.Arg58=) n.260C>A c.342C>A (p.Arg114=) c.47C>A n.482C>A | |
19 | g.41410768C= | CA2336453812 | BCKDHA | c.240C= (p.Arg80=) c.174C= (p.Arg58=) n.260C= c.342C= (p.Arg114=) c.47C= n.482C= | |
19 | g.41410768C>G | CA507555499 | BCKDHA | c.240C>G (p.Arg80=) c.174C>G (p.Arg58=) n.260C>G c.342C>G (p.Arg114=) c.47C>G n.482C>G | |
19 | g.41410768C>T | CA9461032 | BCKDHA | c.240C>T (p.Arg80=) c.174C>T (p.Arg58=) n.260C>T c.342C>T (p.Arg114=) c.47C>T n.482C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410769G>A | CA9461033 | BCKDHA | c.241G>A (p.Val81Ile) c.175G>A (p.Val59Ile) n.261G>A c.343G>A (p.Val115Ile) c.48G>A n.483G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410769G>C | CA406004853 | BCKDHA | c.241G>C (p.Val81Leu) c.175G>C (p.Val59Leu) n.261G>C c.343G>C (p.Val115Leu) c.48G>C n.483G>C | |
19 | g.41410769G= | CA2336453813 | BCKDHA | c.241G= (p.Val81=) c.175G= (p.Val59=) n.261G= c.343G= (p.Val115=) c.48G= n.483G= | |
19 | g.41410769G>T | CA406004851 | BCKDHA | c.241G>T (p.Val81Phe) c.175G>T (p.Val59Phe) n.261G>T c.343G>T (p.Val115Phe) c.48G>T n.483G>T | |
19 | g.41410770T>A | CA406004856 | BCKDHA | c.242T>A (p.Val81Asp) c.176T>A (p.Val59Asp) n.262T>A c.344T>A (p.Val115Asp) c.49T>A n.484T>A | |
19 | g.41410770T>C | CA406004859 | BCKDHA | c.242T>C (p.Val81Ala) c.176T>C (p.Val59Ala) n.262T>C c.344T>C (p.Val115Ala) c.49T>C n.484T>C | |
19 | g.41410770T>G | CA406004860 | BCKDHA | c.242T>G (p.Val81Gly) c.176T>G (p.Val59Gly) n.262T>G c.344T>G (p.Val115Gly) c.49T>G n.484T>G | |
19 | g.41410771C>A | CA507555506 | BCKDHA | c.243C>A (p.Val81=) c.177C>A (p.Val59=) n.263C>A c.345C>A (p.Val115=) c.50C>A n.485C>A | ClinVar dbSNP |
19 | g.41410771C>G | CA507555509 | BCKDHA | c.243C>G (p.Val81=) c.177C>G (p.Val59=) n.263C>G c.345C>G (p.Val115=) c.50C>G n.485C>G | |
19 | g.41410771C>T | CA507555508 | BCKDHA | c.243C>T (p.Val81=) c.177C>T (p.Val59=) n.263C>T c.345C>T (p.Val115=) c.50C>T n.485C>T | |
19 | g.41410772A= | CA2336453814 | BCKDHA | c.244A= (p.Met82=) c.178A= (p.Met60=) n.264A= c.346A= (p.Met116=) c.51A= n.486A= | |
19 | g.41410772A>C | CA308515378 | BCKDHA | c.244A>C (p.Met82Leu) c.178A>C (p.Met60Leu) n.264A>C c.346A>C (p.Met116Leu) c.51A>C n.486A>C | dbSNP |
19 | g.41410772A>G | CA406004865 | BCKDHA | c.244A>G (p.Met82Val) c.178A>G (p.Met60Val) n.264A>G c.346A>G (p.Met116Val) c.51A>G n.486A>G | |
19 | g.41410772A>T | CA406004867 | BCKDHA | c.244A>T (p.Met82Leu) c.178A>T (p.Met60Leu) n.264A>T c.346A>T (p.Met116Leu) c.51A>T n.486A>T | |
19 | g.41410773T>A | CA406004870 | BCKDHA | c.245T>A (p.Met82Lys) c.179T>A (p.Met60Lys) n.265T>A c.347T>A (p.Met116Lys) c.52T>A n.487T>A | |
19 | g.41410773T>C | CA9461034 | BCKDHA | c.245T>C (p.Met82Thr) c.179T>C (p.Met60Thr) n.265T>C c.347T>C (p.Met116Thr) c.52T>C n.487T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410773T>G | CA406004873 | BCKDHA | c.245T>G (p.Met82Arg) c.179T>G (p.Met60Arg) n.265T>G c.347T>G (p.Met116Arg) c.52T>G n.487T>G | |
19 | g.41410773T= | CA2336453815 | BCKDHA | c.245T= (p.Met82=) c.179T= (p.Met60=) n.265T= c.347T= (p.Met116=) c.52T= n.487T= | |
19 | g.41410774G>A | CA9461035 | BCKDHA | c.246G>A (p.Met82Ile) c.180G>A (p.Met60Ile) n.266G>A c.348G>A (p.Met116Ile) c.53G>A n.488G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410774G>C | CA406004877 | BCKDHA | c.246G>C (p.Met82Ile) c.180G>C (p.Met60Ile) n.266G>C c.348G>C (p.Met116Ile) c.53G>C n.488G>C | |
19 | g.41410774G= | CA2336453816 | BCKDHA | c.246G= (p.Met82=) c.180G= (p.Met60=) n.266G= c.348G= (p.Met116=) c.53G= n.488G= | |
19 | g.41410774G>T | CA406004878 | BCKDHA | c.246G>T (p.Met82Ile) c.180G>T (p.Met60Ile) n.266G>T c.348G>T (p.Met116Ile) c.53G>T n.488G>T | |
19 | g.41410775G>A | CA406004887 | BCKDHA | c.247G>A (p.Asp83Asn) c.181G>A (p.Asp61Asn) n.267G>A c.349G>A (p.Asp117Asn) c.54G>A n.489G>A | |
19 | g.41410775G>C | CA406004882 | BCKDHA | c.247G>C (p.Asp83His) c.181G>C (p.Asp61His) n.267G>C c.349G>C (p.Asp117His) c.54G>C n.489G>C | |
19 | g.41410775G>T | CA406004884 | BCKDHA | c.247G>T (p.Asp83Tyr) c.181G>T (p.Asp61Tyr) n.267G>T c.349G>T (p.Asp117Tyr) c.54G>T n.489G>T | |
19 | g.41410776A>C | CA406004890 | BCKDHA | c.248A>C (p.Asp83Ala) c.182A>C (p.Asp61Ala) n.268A>C c.350A>C (p.Asp117Ala) c.55A>C n.490A>C | |
19 | g.41410776A>G | CA406004891 | BCKDHA | c.248A>G (p.Asp83Gly) c.182A>G (p.Asp61Gly) n.268A>G c.350A>G (p.Asp117Gly) c.55A>G n.490A>G | |
19 | g.41410776A>T | CA406004894 | BCKDHA | c.248A>T (p.Asp83Val) c.182A>T (p.Asp61Val) n.268A>T c.350A>T (p.Asp117Val) c.55A>T n.490A>T | |
19 | g.41410777C>A | CA406004896 | BCKDHA | c.249C>A (p.Asp83Glu) c.183C>A (p.Asp61Glu) n.269C>A c.351C>A (p.Asp117Glu) c.56C>A n.491C>A | |
19 | g.41410777C= | CA2336453817 | BCKDHA | c.249C= (p.Asp83=) c.183C= (p.Asp61=) n.269C= c.351C= (p.Asp117=) c.56C= n.491C= | |
19 | g.41410777C>G | CA406004899 | BCKDHA | c.249C>G (p.Asp83Glu) c.183C>G (p.Asp61Glu) n.269C>G c.351C>G (p.Asp117Glu) c.56C>G n.491C>G | |
19 | g.41410777C>T | CA221191 | BCKDHA | c.249C>T (p.Asp83=) c.183C>T (p.Asp61=) n.269C>T c.351C>T (p.Asp117=) c.56C>T n.491C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410778C>A | CA507555520 | BCKDHA | c.250C>A (p.Arg84=) c.184C>A (p.Arg62=) n.270C>A c.352C>A (p.Arg118=) c.57C>A n.492C>A | |
19 | g.41410778C= | CA2336453818 | BCKDHA | c.250C= (p.Arg84=) c.184C= (p.Arg62=) n.270C= c.352C= (p.Arg118=) c.57C= n.492C= | |
19 | g.41410778C>G | CA406004901 | BCKDHA | c.250C>G (p.Arg84Gly) c.184C>G (p.Arg62Gly) n.270C>G c.352C>G (p.Arg118Gly) c.57C>G n.492C>G | |
19 | g.41410778C>T | CA308515422 | BCKDHA | c.250C>T (p.Arg84Trp) c.184C>T (p.Arg62Trp) n.270C>T c.352C>T (p.Arg118Trp) c.57C>T n.492C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41410779G>A | CA9461036 | BCKDHA | c.251G>A (p.Arg84Gln) c.185G>A (p.Arg62Gln) n.271G>A c.353G>A (p.Arg118Gln) c.58G>A n.493G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410779G>C | CA406004906 | BCKDHA | c.251G>C (p.Arg84Pro) c.185G>C (p.Arg62Pro) n.271G>C c.353G>C (p.Arg118Pro) c.58G>C n.493G>C | |
19 | g.41410779G= | CA2336453819 | BCKDHA | c.251G= (p.Arg84=) c.185G= (p.Arg62=) n.271G= c.353G= (p.Arg118=) c.58G= n.493G= | |
19 | g.41410779G>T | CA406004909 | BCKDHA | c.251G>T (p.Arg84Leu) c.185G>T (p.Arg62Leu) n.271G>T c.353G>T (p.Arg118Leu) c.58G>T n.493G>T | |
19 | g.41410780G>A | CA507555522 | BCKDHA | c.252G>A (p.Arg84=) c.186G>A (p.Arg62=) n.272G>A c.354G>A (p.Arg118=) c.59G>A n.494G>A | ClinVar COSMIC |
19 | g.41410780G>C | CA507555524 | BCKDHA | c.252G>C (p.Arg84=) c.186G>C (p.Arg62=) n.272G>C c.354G>C (p.Arg118=) c.59G>C n.494G>C | |
19 | g.41410780G>T | CA507555526 | BCKDHA | c.252G>T (p.Arg84=) c.186G>T (p.Arg62=) n.272G>T c.354G>T (p.Arg118=) c.59G>T n.494G>T | ClinVar dbSNP |
19 | g.41410781C>A | CA406004916 | BCKDHA | c.253C>A (p.Gln85Lys) c.187C>A (p.Gln63Lys) n.273C>A c.355C>A (p.Gln119Lys) c.60C>A n.495C>A | |
19 | g.41410781C>G | CA406004914 | BCKDHA | c.253C>G (p.Gln85Glu) c.187C>G (p.Gln63Glu) n.273C>G c.355C>G (p.Gln119Glu) c.60C>G n.495C>G | gnomAD v4 |
19 | g.41410781C>T | CA406004912 | BCKDHA | c.253C>T (p.Gln85Ter) c.187C>T (p.Gln63Ter) n.273C>T c.355C>T (p.Gln119Ter) c.60C>T n.495C>T | ClinVar |
19 | g.41410782A= | CA2336453820 | BCKDHA | c.254A= (p.Gln85=) c.188A= (p.Gln63=) n.274A= c.356A= (p.Gln119=) c.61A= n.496A= | |
19 | g.41410782A>C | CA406004918 | BCKDHA | c.254A>C (p.Gln85Pro) c.188A>C (p.Gln63Pro) n.274A>C c.356A>C (p.Gln119Pro) c.61A>C n.496A>C | |
19 | g.41410782A>G | CA406004923 | BCKDHA | c.254A>G (p.Gln85Arg) c.188A>G (p.Gln63Arg) n.274A>G c.356A>G (p.Gln119Arg) c.61A>G n.496A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41410782A>T | CA406004921 | BCKDHA | c.254A>T (p.Gln85Leu) c.188A>T (p.Gln63Leu) n.274A>T c.356A>T (p.Gln119Leu) c.61A>T n.496A>T | |
19 | g.41410783A= | CA2336453821 | BCKDHA | c.255A= (p.Gln85=) c.189A= (p.Gln63=) n.275A= c.357A= (p.Gln119=) c.62A= n.497A= | |
19 | g.41410783A>C | CA406004926 | BCKDHA | c.255A>C (p.Gln85His) c.189A>C (p.Gln63His) n.275A>C c.357A>C (p.Gln119His) c.62A>C n.497A>C | |
19 | g.41410783A>G | CA507555531 | BCKDHA | c.255A>G (p.Gln85=) c.189A>G (p.Gln63=) n.275A>G c.357A>G (p.Gln119=) c.62A>G n.497A>G | dbSNP |
19 | g.41410783A>T | CA406004929 | BCKDHA | c.255A>T (p.Gln85His) c.189A>T (p.Gln63His) n.275A>T c.357A>T (p.Gln119His) c.62A>T n.497A>T | |
19 | g.41410784G>A | CA406004932 | BCKDHA | c.256G>A (p.Gly86Ser) c.190G>A (p.Gly64Ser) n.276G>A c.358G>A (p.Gly120Ser) c.63G>A n.498G>A | |
19 | g.41410784G>C | CA406004934 | BCKDHA | c.256G>C (p.Gly86Arg) c.190G>C (p.Gly64Arg) n.276G>C c.358G>C (p.Gly120Arg) c.63G>C n.498G>C | |
19 | g.41410784G>T | CA406004936 | BCKDHA | c.256G>T (p.Gly86Cys) c.190G>T (p.Gly64Cys) n.276G>T c.358G>T (p.Gly120Cys) c.63G>T n.498G>T | COSMIC |
19 | g.41410785G>A | CA308515433 | BCKDHA | c.257G>A (p.Gly86Asp) c.191G>A (p.Gly64Asp) n.277G>A c.359G>A (p.Gly120Asp) c.64G>A n.499G>A | dbSNP gnomAD v4 |
19 | g.41410785G>C | CA406004941 | BCKDHA | c.257G>C (p.Gly86Ala) c.191G>C (p.Gly64Ala) n.277G>C c.359G>C (p.Gly120Ala) c.64G>C n.499G>C | |
19 | g.41410785G= | CA2336453822 | BCKDHA | c.257G= (p.Gly86=) c.191G= (p.Gly64=) n.277G= c.359G= (p.Gly120=) c.64G= n.499G= | |
19 | g.41410785G>T | CA406004943 | BCKDHA | c.257G>T (p.Gly86Val) c.191G>T (p.Gly64Val) n.277G>T c.359G>T (p.Gly120Val) c.64G>T n.499G>T | |
19 | g.41410786C>A | CA507555534 | BCKDHA | c.258C>A (p.Gly86=) c.192C>A (p.Gly64=) n.278C>A c.360C>A (p.Gly120=) c.65C>A n.500C>A | |
19 | g.41410786C>G | CA507555536 | BCKDHA | c.258C>G (p.Gly86=) c.192C>G (p.Gly64=) n.278C>G c.360C>G (p.Gly120=) c.65C>G n.500C>G | ClinVar dbSNP |
19 | g.41410786C>T | CA507555537 | BCKDHA | c.258C>T (p.Gly86=) c.192C>T (p.Gly64=) n.278C>T c.360C>T (p.Gly120=) c.65C>T n.500C>T | |
19 | g.41410787C>A | CA406004946 | BCKDHA | c.259C>A (p.Gln87Lys) c.193C>A (p.Gln65Lys) n.279C>A c.361C>A (p.Gln121Lys) c.66C>A n.501C>A | |
19 | g.41410787C>G | CA406004948 | BCKDHA | c.259C>G (p.Gln87Glu) c.193C>G (p.Gln65Glu) n.279C>G c.361C>G (p.Gln121Glu) c.66C>G n.501C>G | |
19 | g.41410787C>T | CA406004951 | BCKDHA | c.259C>T (p.Gln87Ter) c.193C>T (p.Gln65Ter) n.279C>T c.361C>T (p.Gln121Ter) c.66C>T n.501C>T | gnomAD v4 |
19 | g.41410788A>C | CA406004954 | BCKDHA | c.260A>C (p.Gln87Pro) c.194A>C (p.Gln65Pro) n.280A>C c.362A>C (p.Gln121Pro) c.67A>C n.502A>C | |
19 | g.41410788A>G | CA406004956 | BCKDHA | c.260A>G (p.Gln87Arg) c.194A>G (p.Gln65Arg) n.280A>G c.362A>G (p.Gln121Arg) c.67A>G n.502A>G | |
19 | g.41410788A>T | CA406004958 | BCKDHA | c.260A>T (p.Gln87Leu) c.194A>T (p.Gln65Leu) n.280A>T c.362A>T (p.Gln121Leu) c.67A>T n.502A>T | |
19 | g.41410789G>A | CA507555540 | BCKDHA | c.261G>A (p.Gln87=) c.195G>A (p.Gln65=) n.281G>A c.363G>A (p.Gln121=) c.68G>A n.503G>A | |
19 | g.41410789G>C | CA406004963 | BCKDHA | c.261G>C (p.Gln87His) c.195G>C (p.Gln65His) n.281G>C c.363G>C (p.Gln121His) c.68G>C n.503G>C | |
19 | g.41410789G= | CA2336453823 | BCKDHA | c.261G= (p.Gln87=) c.195G= (p.Gln65=) n.281G= c.363G= (p.Gln121=) c.68G= n.503G= | |
19 | g.41410789G>T | CA9461037 | BCKDHA | c.261G>T (p.Gln87His) c.195G>T (p.Gln65His) n.281G>T c.363G>T (p.Gln121His) c.68G>T n.503G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410790A>C | CA406004966 | BCKDHA | c.262A>C (p.Ile88Leu) c.196A>C (p.Ile66Leu) n.282A>C c.364A>C (p.Ile122Leu) c.69A>C n.504A>C | |
19 | g.41410790A>G | CA406004969 | BCKDHA | c.262A>G (p.Ile88Val) c.196A>G (p.Ile66Val) n.282A>G c.364A>G (p.Ile122Val) c.69A>G n.504A>G | |
19 | g.41410790A>T | CA406004972 | BCKDHA | c.262A>T (p.Ile88Phe) c.196A>T (p.Ile66Phe) n.282A>T c.364A>T (p.Ile122Phe) c.69A>T n.504A>T | |
19 | g.41410791T>A | CA406004974 | BCKDHA | c.263T>A (p.Ile88Asn) c.197T>A (p.Ile66Asn) n.283T>A c.365T>A (p.Ile122Asn) c.70T>A n.505T>A | |
19 | g.41410791T>C | CA406004976 | BCKDHA | c.263T>C (p.Ile88Thr) c.197T>C (p.Ile66Thr) n.283T>C c.365T>C (p.Ile122Thr) c.70T>C n.505T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41410791T>G | CA406004978 | BCKDHA | c.263T>G (p.Ile88Ser) c.197T>G (p.Ile66Ser) n.283T>G c.365T>G (p.Ile122Ser) c.70T>G n.505T>G | |
19 | g.41410791T= | CA2336453824 | BCKDHA | c.263T= (p.Ile88=) c.197T= (p.Ile66=) n.283T= c.365T= (p.Ile122=) c.70T= n.505T= | |
19 | g.41410792C>A | CA507555545 | BCKDHA | c.264C>A (p.Ile88=) c.198C>A (p.Ile66=) n.284C>A c.366C>A (p.Ile122=) c.71C>A n.506C>A | |
19 | g.41410792C>G | CA406004980 | BCKDHA | c.264C>G (p.Ile88Met) c.198C>G (p.Ile66Met) n.284C>G c.366C>G (p.Ile122Met) c.71C>G n.506C>G | |
19 | g.41410792C>T | CA507555546 | BCKDHA | c.264C>T (p.Ile88=) c.198C>T (p.Ile66=) n.284C>T c.366C>T (p.Ile122=) c.71C>T n.506C>T | |
19 | g.41410793A>C | CA406004984 | BCKDHA | c.265A>C (p.Ile89Leu) c.199A>C (p.Ile67Leu) n.285A>C c.367A>C (p.Ile123Leu) c.72A>C n.507A>C | |
19 | g.41410793A>G | CA406004987 | BCKDHA | c.265A>G (p.Ile89Val) c.199A>G (p.Ile67Val) n.285A>G c.367A>G (p.Ile123Val) c.72A>G n.507A>G | |
19 | g.41410793A>T | CA406004991 | BCKDHA | c.265A>T (p.Ile89Phe) c.199A>T (p.Ile67Phe) n.285A>T c.367A>T (p.Ile123Phe) c.72A>T n.507A>T | |
19 | g.41410794T>A | CA406004995 | BCKDHA | c.266T>A (p.Ile89Asn) c.200T>A (p.Ile67Asn) n.286T>A c.368T>A (p.Ile123Asn) c.73T>A n.508T>A | |
19 | g.41410794T>C | CA406004998 | BCKDHA | c.266T>C (p.Ile89Thr) c.200T>C (p.Ile67Thr) n.286T>C c.368T>C (p.Ile123Thr) c.73T>C n.508T>C | |
19 | g.41410794T>G | CA406005000 | BCKDHA | c.266T>G (p.Ile89Ser) c.200T>G (p.Ile67Ser) n.286T>G c.368T>G (p.Ile123Ser) c.73T>G n.508T>G | |
19 | g.41410795C>A | CA507555548 | BCKDHA | c.267C>A (p.Ile89=) c.201C>A (p.Ile67=) n.287C>A c.369C>A (p.Ile123=) c.74C>A n.509C>A | |
19 | g.41410795C>G | CA406005001 | BCKDHA | c.267C>G (p.Ile89Met) c.201C>G (p.Ile67Met) n.287C>G c.369C>G (p.Ile123Met) c.74C>G n.509C>G | |
19 | g.41410795C>T | CA507555550 | BCKDHA | c.267C>T (p.Ile89=) c.201C>T (p.Ile67=) n.287C>T c.369C>T (p.Ile123=) c.74C>T n.509C>T | |
19 | g.41410796A>C | CA406005004 | BCKDHA | c.268A>C (p.Asn90His) c.202A>C (p.Asn68His) n.288A>C c.370A>C (p.Asn124His) c.75A>C n.510A>C | dbSNP |
19 | g.41410796A>G | CA406005002 | BCKDHA | c.268A>G (p.Asn90Asp) c.202A>G (p.Asn68Asp) n.288A>G c.370A>G (p.Asn124Asp) c.75A>G n.510A>G | |
19 | g.41410796A>T | CA406005003 | BCKDHA | c.268A>T (p.Asn90Tyr) c.202A>T (p.Asn68Tyr) n.288A>T c.370A>T (p.Asn124Tyr) c.75A>T n.510A>T | |
19 | g.41410797A= | CA2336453825 | BCKDHA | c.269A= (p.Asn90=) c.203A= (p.Asn68=) n.289A= c.371A= (p.Asn124=) c.76A= n.511A= | |
19 | g.41410797A>C | CA406005005 | BCKDHA | c.269A>C (p.Asn90Thr) c.203A>C (p.Asn68Thr) n.289A>C c.371A>C (p.Asn124Thr) c.76A>C n.511A>C | |
19 | g.41410797A>G | CA406005006 | BCKDHA | c.269A>G (p.Asn90Ser) c.203A>G (p.Asn68Ser) n.289A>G c.371A>G (p.Asn124Ser) c.76A>G n.511A>G | dbSNP |
19 | g.41410797A>T | CA406005007 | BCKDHA | c.269A>T (p.Asn90Ile) c.203A>T (p.Asn68Ile) n.289A>T c.371A>T (p.Asn124Ile) c.76A>T n.511A>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41410798C>A | CA406005008 | BCKDHA | c.270C>A (p.Asn90Lys) c.204C>A (p.Asn68Lys) n.290C>A c.372C>A (p.Asn124Lys) c.77C>A n.512C>A | |
19 | g.41410798C>G | CA406005009 | BCKDHA | c.270C>G (p.Asn90Lys) c.204C>G (p.Asn68Lys) n.290C>G c.372C>G (p.Asn124Lys) c.77C>G n.512C>G | |
19 | g.41410798C>T | CA507555553 | BCKDHA | c.270C>T (p.Asn90=) c.204C>T (p.Asn68=) n.290C>T c.372C>T (p.Asn124=) c.77C>T n.512C>T | |
19 | g.41410799C>A | CA406005011 | BCKDHA | c.271C>A (p.Pro91Thr) c.205C>A (p.Pro69Thr) n.291C>A c.373C>A (p.Pro125Thr) c.78C>A n.513C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410799C= | CA2336453826 | BCKDHA | c.271C= (p.Pro91=) c.205C= (p.Pro69=) n.291C= c.373C= (p.Pro125=) c.78C= n.513C= | |
19 | g.41410799C>G | CA406005012 | BCKDHA | c.271C>G (p.Pro91Ala) c.205C>G (p.Pro69Ala) n.291C>G c.373C>G (p.Pro125Ala) c.78C>G n.513C>G | |
19 | g.41410799C>T | CA406005013 | BCKDHA | c.271C>T (p.Pro91Ser) c.205C>T (p.Pro69Ser) n.291C>T c.373C>T (p.Pro125Ser) c.78C>T n.513C>T | |
19 | g.41410800C>A | CA9461038 | BCKDHA | c.272C>A (p.Pro91His) c.206C>A (p.Pro69His) n.292C>A c.374C>A (p.Pro125His) c.79C>A n.514C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41410800C= | CA2336453827 | BCKDHA | c.272C= (p.Pro91=) c.206C= (p.Pro69=) n.292C= c.374C= (p.Pro125=) c.79C= n.514C= | |
19 | g.41410800C>G | CA406005019 | BCKDHA | c.272C>G (p.Pro91Arg) c.206C>G (p.Pro69Arg) n.292C>G c.374C>G (p.Pro125Arg) c.79C>G n.514C>G | |
19 | g.41410800C>T | CA406005022 | BCKDHA | c.272C>T (p.Pro91Leu) c.206C>T (p.Pro69Leu) n.292C>T c.374C>T (p.Pro125Leu) c.79C>T n.514C>T | |
19 | g.41410801C>A | CA507555557 | BCKDHA | c.273C>A (p.Pro91=) c.207C>A (p.Pro69=) n.293C>A c.375C>A (p.Pro125=) c.80C>A n.515C>A | |
19 | g.41410801C= | CA2336453828 | BCKDHA | c.273C= (p.Pro91=) c.207C= (p.Pro69=) n.293C= c.375C= (p.Pro125=) c.80C= n.515C= | |
19 | g.41410801C>G | CA507555558 | BCKDHA | c.273C>G (p.Pro91=) c.207C>G (p.Pro69=) n.293C>G c.375C>G (p.Pro125=) c.80C>G n.515C>G | |
19 | g.41410801C>T | CA507555559 | BCKDHA | c.273C>T (p.Pro91=) c.207C>T (p.Pro69=) n.293C>T c.375C>T (p.Pro125=) c.80C>T n.515C>T | dbSNP |
19 | g.41410802A>C | CA406005037 | BCKDHA | c.274A>C (p.Ser92Arg) c.208A>C (p.Ser70Arg) n.294A>C c.376A>C (p.Ser126Arg) c.81A>C n.516A>C | |
19 | g.41410802A>G | CA406005025 | BCKDHA | c.274A>G (p.Ser92Gly) c.208A>G (p.Ser70Gly) n.294A>G c.376A>G (p.Ser126Gly) c.81A>G n.516A>G | |
19 | g.41410802A>T | CA406005026 | BCKDHA | c.274A>T (p.Ser92Cys) c.208A>T (p.Ser70Cys) n.294A>T c.376A>T (p.Ser126Cys) c.81A>T n.516A>T | |
19 | g.41410803G>A | CA406005042 | BCKDHA | c.275G>A (p.Ser92Asn) c.209G>A (p.Ser70Asn) n.295G>A c.377G>A (p.Ser126Asn) c.82G>A n.517G>A | |
19 | g.41410803G>C | CA406005044 | BCKDHA | c.275G>C (p.Ser92Thr) c.209G>C (p.Ser70Thr) n.295G>C c.377G>C (p.Ser126Thr) c.82G>C n.517G>C | |
19 | g.41410803G>T | CA406005047 | BCKDHA | c.275G>T (p.Ser92Ile) c.209G>T (p.Ser70Ile) n.295G>T c.377G>T (p.Ser126Ile) c.82G>T n.517G>T | |
19 | g.41410804C>A | CA406005048 | BCKDHA | c.276C>A (p.Ser92Arg) c.210C>A (p.Ser70Arg) n.296C>A c.378C>A (p.Ser126Arg) c.83C>A n.518C>A | |
19 | g.41410804C= | CA2336453829 | BCKDHA | c.276C= (p.Ser92=) c.210C= (p.Ser70=) n.296C= c.378C= (p.Ser126=) c.83C= n.518C= | |
19 | g.41410804C>G | CA406005049 | BCKDHA | c.276C>G (p.Ser92Arg) c.210C>G (p.Ser70Arg) n.296C>G c.378C>G (p.Ser126Arg) c.83C>G n.518C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41410804C>T | CA9461039 | BCKDHA | c.276C>T (p.Ser92=) c.210C>T (p.Ser70=) n.296C>T c.378C>T (p.Ser126=) c.83C>T n.518C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410805G>A | CA9461040 | BCKDHA | c.277G>A (p.Glu93Lys) c.211G>A (p.Glu71Lys) n.297G>A c.379G>A (p.Glu127Lys) c.84G>A n.519G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410805G>C | CA406005054 | BCKDHA | c.277G>C (p.Glu93Gln) c.211G>C (p.Glu71Gln) n.297G>C c.379G>C (p.Glu127Gln) c.84G>C n.519G>C | |
19 | g.41410805G= | CA2336453830 | BCKDHA | c.277G= (p.Glu93=) c.211G= (p.Glu71=) n.297G= c.379G= (p.Glu127=) c.84G= n.519G= | |
19 | g.41410805G>T | CA406005057 | BCKDHA | c.277G>T (p.Glu93Ter) c.211G>T (p.Glu71Ter) n.297G>T c.379G>T (p.Glu127Ter) c.84G>T n.519G>T | ClinVar |
19 | g.41410806A>C | CA406005060 | BCKDHA | c.278A>C (p.Glu93Ala) c.212A>C (p.Glu71Ala) n.298A>C c.380A>C (p.Glu127Ala) c.85A>C n.520A>C | |
19 | g.41410806A>G | CA406005061 | BCKDHA | c.278A>G (p.Glu93Gly) c.212A>G (p.Glu71Gly) n.298A>G c.380A>G (p.Glu127Gly) c.85A>G n.520A>G | |
19 | g.41410806A>T | CA406005062 | BCKDHA | c.278A>T (p.Glu93Val) c.212A>T (p.Glu71Val) n.298A>T c.380A>T (p.Glu127Val) c.85A>T n.520A>T | |
19 | g.41410807G>A | CA507555568 | BCKDHA | c.279G>A (p.Glu93=) c.213G>A (p.Glu71=) n.299G>A c.381G>A (p.Glu127=) c.86G>A n.521G>A | dbSNP gnomAD v4 COSMIC |
19 | g.41410807G>C | CA406005063 | BCKDHA | c.279G>C (p.Glu93Asp) c.213G>C (p.Glu71Asp) n.299G>C c.381G>C (p.Glu127Asp) c.86G>C n.521G>C | |
19 | g.41410807G= | CA2336453831 | BCKDHA | c.279G= (p.Glu93=) c.213G= (p.Glu71=) n.299G= c.381G= (p.Glu127=) c.86G= n.521G= | |
19 | g.41410807G>T | CA406005064 | BCKDHA | c.279G>T (p.Glu93Asp) c.213G>T (p.Glu71Asp) n.299G>T c.381G>T (p.Glu127Asp) c.86G>T n.521G>T | |
19 | g.41410808G>A | CA406005067 | BCKDHA | c.280G>A (p.Asp94Asn) c.214G>A (p.Asp72Asn) n.300G>A c.382G>A (p.Asp128Asn) c.87G>A n.522G>A | gnomAD v4 |
19 | g.41410808G>C | CA406005071 | BCKDHA | c.280G>C (p.Asp94His) c.214G>C (p.Asp72His) n.300G>C c.382G>C (p.Asp128His) c.87G>C n.522G>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.41410808G= | CA2336453832 | BCKDHA | c.280G= (p.Asp94=) c.214G= (p.Asp72=) n.300G= c.382G= (p.Asp128=) c.87G= n.522G= | |
19 | g.41410808G>T | CA406005069 | BCKDHA | c.280G>T (p.Asp94Tyr) c.214G>T (p.Asp72Tyr) n.300G>T c.382G>T (p.Asp128Tyr) c.87G>T n.522G>T | |
19 | g.41410809A= | CA2336453833 | BCKDHA | c.281A= (p.Asp94=) c.215A= (p.Asp72=) n.301A= c.383A= (p.Asp128=) c.88A= n.523A= | |
19 | g.41410809A>C | CA406005076 | BCKDHA | c.281A>C (p.Asp94Ala) c.215A>C (p.Asp72Ala) n.301A>C c.383A>C (p.Asp128Ala) c.88A>C n.523A>C | |
19 | g.41410809A>G | CA406005078 | BCKDHA | c.281A>G (p.Asp94Gly) c.215A>G (p.Asp72Gly) n.301A>G c.383A>G (p.Asp128Gly) c.88A>G n.523A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41410809A>T | CA406005080 | BCKDHA | c.281A>T (p.Asp94Val) c.215A>T (p.Asp72Val) n.301A>T c.383A>T (p.Asp128Val) c.88A>T n.523A>T | gnomAD v4 |
19 | g.41410810C>A | CA406005084 | BCKDHA | c.282C>A (p.Asp94Glu) c.216C>A (p.Asp72Glu) n.302C>A c.384C>A (p.Asp128Glu) c.89C>A n.524C>A | ClinVar gnomAD v4 |
19 | g.41410810C= | CA2336453834 | BCKDHA | c.282C= (p.Asp94=) c.216C= (p.Asp72=) n.302C= c.384C= (p.Asp128=) c.89C= n.524C= | |
19 | g.41410810C>G | CA406005086 | BCKDHA | c.282C>G (p.Asp94Glu) c.216C>G (p.Asp72Glu) n.302C>G c.384C>G (p.Asp128Glu) c.89C>G n.524C>G | |
19 | g.41410810C>T | CA308515452 | BCKDHA | c.282C>T (p.Asp94=) c.216C>T (p.Asp72=) n.302C>T c.384C>T (p.Asp128=) c.89C>T n.524C>T | ClinVar dbSNP gnomAD v4 |
19 | g.41410811C>A | CA9461041 | BCKDHA | c.283C>A (p.Pro95Thr) c.217C>A (p.Pro73Thr) n.303C>A c.385C>A (p.Pro129Thr) c.90C>A n.525C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410811C= | CA2336453835 | BCKDHA | c.283C= (p.Pro95=) c.217C= (p.Pro73=) n.303C= c.385C= (p.Pro129=) c.90C= n.525C= | |
19 | g.41410811C>G | CA406005092 | BCKDHA | c.283C>G (p.Pro95Ala) c.217C>G (p.Pro73Ala) n.303C>G c.385C>G (p.Pro129Ala) c.90C>G n.525C>G | gnomAD v4 |
19 | g.41410811C>T | CA406005096 | BCKDHA | c.283C>T (p.Pro95Ser) c.217C>T (p.Pro73Ser) n.303C>T c.385C>T (p.Pro129Ser) c.90C>T n.525C>T | |
19 | g.41410812C>A | CA406005099 | BCKDHA | c.284C>A (p.Pro95His) c.218C>A (p.Pro73His) n.304C>A c.386C>A (p.Pro129His) c.91C>A n.526C>A | |
19 | g.41410812C= | CA2336453836 | BCKDHA | c.284C= (p.Pro95=) c.218C= (p.Pro73=) n.304C= c.386C= (p.Pro129=) c.91C= n.526C= | |
19 | g.41410812C>G | CA406005100 | BCKDHA | c.284C>G (p.Pro95Arg) c.218C>G (p.Pro73Arg) n.304C>G c.386C>G (p.Pro129Arg) c.91C>G n.526C>G | |
19 | g.41410812C>T | CA406005101 | BCKDHA | c.284C>T (p.Pro95Leu) c.218C>T (p.Pro73Leu) n.304C>T c.386C>T (p.Pro129Leu) c.91C>T n.526C>T | dbSNP gnomAD v4 |
19 | g.41410812_41410817delinsCCCACG | CA2336453837 | BCKDHA | c.284_288+1delinsCCCACG c.218_222+1delinsCCCACG n.304_309delinsCCCACG c.386_390+1delinsCCCACG c.91_95+1delinsCCCACG n.526_531delinsCCCACG | |
19 | g.41410813C>A | CA9461042 | BCKDHA | c.285C>A (p.Pro95=) c.219C>A (p.Pro73=) n.305C>A c.387C>A (p.Pro129=) c.92C>A n.527C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41410813C= | CA2336453839 | BCKDHA | c.285C= (p.Pro95=) c.219C= (p.Pro73=) n.305C= c.387C= (p.Pro129=) c.92C= n.527C= | |
19 | g.41410813C>G | CA507555577 | BCKDHA | c.285C>G (p.Pro95=) c.219C>G (p.Pro73=) n.305C>G c.387C>G (p.Pro129=) c.92C>G n.527C>G | |
19 | g.41410813C>T | CA507555578 | BCKDHA | c.285C>T (p.Pro95=) c.219C>T (p.Pro73=) n.305C>T c.387C>T (p.Pro129=) c.92C>T n.527C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41410813_41410817del | CA2336453838 | BCKDHA | c.285_288+1del c.219_222+1del n.305_309del c.387_390+1del c.92_95+1del n.527_531del | dbSNP |
19 | g.41410814C>A | CA406005110 | BCKDHA | c.286C>A (p.His96Asn) c.220C>A (p.His74Asn) n.306C>A c.388C>A (p.His130Asn) c.93C>A n.528C>A | |
19 | g.41410814C>G | CA406005104 | BCKDHA | c.286C>G (p.His96Asp) c.220C>G (p.His74Asp) n.306C>G c.388C>G (p.His130Asp) c.93C>G n.528C>G | |
19 | g.41410814C>T | CA406005107 | BCKDHA | c.286C>T (p.His96Tyr) c.220C>T (p.His74Tyr) n.306C>T c.388C>T (p.His130Tyr) c.93C>T n.528C>T | |
19 | g.41410815A>C | CA406005114 | BCKDHA | c.287A>C (p.His96Pro) c.221A>C (p.His74Pro) n.307A>C c.389A>C (p.His130Pro) c.94A>C n.529A>C | dbSNP |
19 | g.41410815A>G | CA406005115 | BCKDHA | c.287A>G (p.His96Arg) c.221A>G (p.His74Arg) n.307A>G c.389A>G (p.His130Arg) c.94A>G n.529A>G | |
19 | g.41410815A>T | CA406005116 | BCKDHA | c.287A>T (p.His96Leu) c.221A>T (p.His74Leu) n.307A>T c.389A>T (p.His130Leu) c.94A>T n.529A>T | |
19 | g.41410816C>A | CA406005117 | BCKDHA | c.288C>A (p.His96Gln) c.222C>A (p.His74Gln) n.308C>A c.390C>A (p.His130Gln) c.95C>A n.530C>A | |
19 | g.41410816C= | CA2336453840 | BCKDHA | c.288C= (p.His96=) c.222C= (p.His74=) n.308C= c.390C= (p.His130=) c.95C= n.530C= | |
19 | g.41410816C>G | CA406005119 | BCKDHA | c.288C>G (p.His96Gln) c.222C>G (p.His74Gln) n.308C>G c.390C>G (p.His130Gln) c.95C>G n.530C>G | gnomAD v4 |
19 | g.41410816C>T | CA221194 | BCKDHA | c.288C>T (p.His96=) c.222C>T (p.His74=) n.308C>T c.390C>T (p.His130=) c.95C>T n.530C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410817G>A | CA275072 | BCKDHA | c.288+1G>A (n.288+1G>A) c.222+1G>A (n.222+1G>A) n.309G>A c.390+1G>A (n.390+1G>A) c.95+1G>A n.531G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41410817G>C | CA406005127 | BCKDHA | c.288+1G>C (n.288+1G>C) c.222+1G>C (n.222+1G>C) n.309G>C c.390+1G>C (n.390+1G>C) c.95+1G>C n.531G>C | |
19 | g.41410817G= | CA2336453841 | BCKDHA | c.288+1G= (n.288+1G=) c.222+1G= (n.222+1G=) n.309G= c.390+1G= (n.390+1G=) c.95+1G= n.531G= | |
19 | g.41410817G>T | CA406005133 | BCKDHA | c.288+1G>T (n.288+1G>T) c.222+1G>T (n.222+1G>T) n.309G>T c.390+1G>T (n.390+1G>T) c.95+1G>T n.531G>T | |
19 | g.41410818T>A | CA406005137 | BCKDHA | c.288+2T>A (n.288+2T>A) c.222+2T>A (n.222+2T>A) n.310T>A c.390+2T>A (n.390+2T>A) c.95+2T>A n.532T>A | |
19 | g.41410818T>C | CA406005141 | BCKDHA | c.288+2T>C (n.288+2T>C) c.222+2T>C (n.222+2T>C) n.310T>C c.390+2T>C (n.390+2T>C) c.95+2T>C n.532T>C | |
19 | g.41410818T>G | CA406005144 | BCKDHA | c.288+2T>G (n.288+2T>G) c.222+2T>G (n.222+2T>G) n.310T>G c.390+2T>G (n.390+2T>G) c.95+2T>G n.532T>G | dbSNP |
19 | g.41410818_41410820delinsTGA | CA2336453842 | BCKDHA | c.288+2_288+4delinsTGA (n.288+2_288+4delinsTGA) c.222+2_222+4delinsTGA (n.222+2_222+4delinsTGA) n.310_312delinsTGA c.390+2_390+4delinsTGA (n.390+2_390+4delinsTGA) c.95+2_95+4delinsTGA n.532_534delinsTGA | |
19 | g.41410819G>A | CA2585306803 | BCKDHA | c.288+3G>A (n.288+3G>A) c.222+3G>A (n.222+3G>A) n.311G>A c.390+3G>A (n.390+3G>A) c.95+3G>A n.533G>A | gnomAD v4 |
19 | g.41410822_41410823del | CA633470458 | BCKDHA | c.288+6_288+7del (n.288+6_288+7del) c.222+6_222+7del (n.222+6_222+7del) n.314_315del c.390+6_390+7del (n.390+6_390+7del) c.95+6_95+7del n.536_537del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41410820A= | CA2336453843 | BCKDHA | c.288+4A= (n.288+4A=) c.222+4A= (n.222+4A=) n.312A= c.390+4A= (n.390+4A=) c.95+4A= n.534A= | |
19 | g.41410820A>G | CA2336453844 | BCKDHA | c.288+4A>G (n.288+4A>G) c.222+4A>G (n.222+4A>G) n.312A>G c.390+4A>G (n.390+4A>G) c.95+4A>G n.534A>G | dbSNP |
19 | g.41410821G>C | CA2585306804 | BCKDHA | c.288+5G>C (n.288+5G>C) c.222+5G>C (n.222+5G>C) n.313G>C c.390+5G>C (n.390+5G>C) c.95+5G>C n.535G>C | gnomAD v4 |
19 | g.41410822A>G | CA2735979235 | BCKDHA | c.288+6A>G (n.288+6A>G) c.222+6A>G (n.222+6A>G) n.314A>G c.390+6A>G (n.390+6A>G) c.95+6A>G n.536A>G | dbSNP |
19 | g.41410823G>A | CA9461043 | BCKDHA | c.288+7G>A (n.288+7G>A) c.222+7G>A (n.222+7G>A) n.315G>A c.390+7G>A (n.390+7G>A) c.95+7G>A n.537G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41410823G= | CA2336453845 | BCKDHA | c.288+7G= (n.288+7G=) c.222+7G= (n.222+7G=) n.315G= c.390+7G= (n.390+7G=) c.95+7G= n.537G= | |
19 | g.41410825C= | CA2336453846 | BCKDHA | c.288+9C= (n.288+9C=) c.222+9C= (n.222+9C=) n.317C= c.390+9C= (n.390+9C=) c.95+9C= n.539C= | |
19 | g.41410825C>T | CA221193 | BCKDHA | c.288+9C>T (n.288+9C>T) c.222+9C>T (n.222+9C>T) n.317C>T c.390+9C>T (n.390+9C>T) c.95+9C>T n.539C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410826G>A | CA9461044 | BCKDHA | c.288+10G>A (n.288+10G>A) c.222+10G>A (n.222+10G>A) n.318G>A c.390+10G>A (n.390+10G>A) c.95+10G>A n.540G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410826G>C | CA2573156386 | BCKDHA | c.288+10G>C (n.288+10G>C) c.222+10G>C (n.222+10G>C) n.318G>C c.390+10G>C (n.390+10G>C) c.95+10G>C n.540G>C | ClinVar dbSNP |
19 | g.41410826G= | CA2336453847 | BCKDHA | c.288+10G= (n.288+10G=) c.222+10G= (n.222+10G=) n.318G= c.390+10G= (n.390+10G=) c.95+10G= n.540G= | |
19 | g.41410826G>T | CA2585306805 | BCKDHA | c.288+10G>T (n.288+10G>T) c.222+10G>T (n.222+10G>T) n.318G>T c.390+10G>T (n.390+10G>T) c.95+10G>T n.540G>T | gnomAD v4 |
19 | g.41410827G>A | CA9461045 | BCKDHA | c.288+11G>A (n.288+11G>A) c.222+11G>A (n.222+11G>A) n.319G>A c.390+11G>A (n.390+11G>A) c.95+11G>A n.541G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410827G= | CA2336453848 | BCKDHA | c.288+11G= (n.288+11G=) c.222+11G= (n.222+11G=) n.319G= c.390+11G= (n.390+11G=) c.95+11G= n.541G= | |
19 | g.41410828C= | CA2336453849 | BCKDHA | c.288+12C= (n.288+12C=) c.222+12C= (n.222+12C=) n.320C= c.390+12C= (n.390+12C=) c.95+12C= n.542C= | |
19 | g.41410828C>G | CA2336453850 | BCKDHA | c.288+12C>G (n.288+12C>G) c.222+12C>G (n.222+12C>G) n.320C>G c.390+12C>G (n.390+12C>G) c.95+12C>G n.542C>G | dbSNP |
19 | g.41410829C= | CA2336453851 | BCKDHA | c.288+13C= (n.288+13C=) c.222+13C= (n.222+13C=) n.321C= c.390+13C= (n.390+13C=) c.95+13C= n.543C= | |
19 | g.41410829C>T | CA882340747 | BCKDHA | c.288+13C>T (n.288+13C>T) c.222+13C>T (n.222+13C>T) n.321C>T c.390+13C>T (n.390+13C>T) c.95+13C>T n.543C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41410830_41410831del | CA2840728369 | BCKDHA | c.288+14_288+15del (n.288+14_288+15del) c.222+14_222+15del (n.222+14_222+15del) n.322_323del c.390+14_390+15del (n.390+14_390+15del) c.95+14_95+15del n.544_545del | |
19 | g.41410830del | CA2585306806 | BCKDHA | c.288+14del (n.288+14del) c.222+14del (n.222+14del) n.322del c.390+14del (n.390+14del) c.95+14del n.544del | gnomAD v4 |
19 | g.41410830T>A | CA2741631873 | BCKDHA | c.288+14T>A (n.288+14T>A) c.222+14T>A (n.222+14T>A) n.322T>A c.390+14T>A (n.390+14T>A) c.95+14T>A n.544T>A | |
19 | g.41410830_41410831delinsTC | CA2336453852 | BCKDHA | c.288+14_288+15delinsTC (n.288+14_288+15delinsTC) c.222+14_222+15delinsTC (n.222+14_222+15delinsTC) n.322_323delinsTC c.390+14_390+15delinsTC (n.390+14_390+15delinsTC) c.95+14_95+15delinsTC n.544_545delinsTC | |
19 | g.41410831C= | CA2336453854 | BCKDHA | c.288+15C= (n.288+15C=) c.222+15C= (n.222+15C=) n.323C= c.390+15C= (n.390+15C=) c.95+15C= n.545C= | |
19 | g.41410831C>T | CA9461046 | BCKDHA | c.288+15C>T (n.288+15C>T) c.222+15C>T (n.222+15C>T) n.323C>T c.390+15C>T (n.390+15C>T) c.95+15C>T n.545C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410835del | CA2336453853 | BCKDHA | c.288+19del (n.288+19del) c.222+19del (n.222+19del) n.327del c.390+19del (n.390+19del) c.95+19del n.549del | dbSNP |
19 | g.41410832C>A | CA2585306807 | BCKDHA | c.288+16C>A (n.288+16C>A) c.222+16C>A (n.222+16C>A) n.324C>A c.390+16C>A (n.390+16C>A) c.95+16C>A n.546C>A | gnomAD v4 |
19 | g.41410832C= | CA2336453855 | BCKDHA | c.288+16C= (n.288+16C=) c.222+16C= (n.222+16C=) n.324C= c.390+16C= (n.390+16C=) c.95+16C= n.546C= | |
19 | g.41410832C>T | CA633470459 | BCKDHA | c.288+16C>T (n.288+16C>T) c.222+16C>T (n.222+16C>T) n.324C>T c.390+16C>T (n.390+16C>T) c.95+16C>T n.546C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410833C>A | CA2814435376 | BCKDHA | c.288+17C>A (n.288+17C>A) c.222+17C>A (n.222+17C>A) n.325C>A c.390+17C>A (n.390+17C>A) c.95+17C>A n.547C>A | |
19 | g.41410833C>T | CA2585306808 | BCKDHA | c.288+17C>T (n.288+17C>T) c.222+17C>T (n.222+17C>T) n.325C>T c.390+17C>T (n.390+17C>T) c.95+17C>T n.547C>T | gnomAD v4 |