Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41410678C>A | CA406004616 | BCKDHA | c.150C>A (p.Asp50Glu) c.84C>A (p.Asp28Glu) n.170C>A c.252C>A (p.Asp84Glu) n.392C>A | |
19 | g.41410678C= | CA2336453775 | BCKDHA | c.150C= (p.Asp50=) c.84C= (p.Asp28=) n.170C= c.252C= (p.Asp84=) n.392C= | |
19 | g.41410678C>G | CA406004617 | BCKDHA | c.150C>G (p.Asp50Glu) c.84C>G (p.Asp28Glu) n.170C>G c.252C>G (p.Asp84Glu) n.392C>G | gnomAD v4 |
19 | g.41410678C>T | CA507555396 | BCKDHA | c.150C>T (p.Asp50=) c.84C>T (p.Asp28=) n.170C>T c.252C>T (p.Asp84=) n.392C>T | dbSNP gnomAD v4 |
19 | g.41410679A>C | CA406004618 | BCKDHA | c.151A>C (p.Lys51Gln) c.85A>C (p.Lys29Gln) n.171A>C c.253A>C (p.Lys85Gln) n.393A>C | |
19 | g.41410679A>G | CA406004619 | BCKDHA | c.151A>G (p.Lys51Glu) c.85A>G (p.Lys29Glu) n.171A>G c.253A>G (p.Lys85Glu) n.393A>G | |
19 | g.41410679A>T | CA406004620 | BCKDHA | c.151A>T (p.Lys51Ter) c.85A>T (p.Lys29Ter) n.171A>T c.253A>T (p.Lys85Ter) n.393A>T | |
19 | g.41410680A>C | CA406004623 | BCKDHA | c.152A>C (p.Lys51Thr) c.86A>C (p.Lys29Thr) n.172A>C c.254A>C (p.Lys85Thr) n.394A>C | |
19 | g.41410680A>G | CA406004622 | BCKDHA | c.152A>G (p.Lys51Arg) c.86A>G (p.Lys29Arg) n.172A>G c.254A>G (p.Lys85Arg) n.394A>G | |
19 | g.41410680A>T | CA406004621 | BCKDHA | c.152A>T (p.Lys51Met) c.86A>T (p.Lys29Met) n.172A>T c.254A>T (p.Lys85Met) n.394A>T | COSMIC |
19 | g.41410681G>A | CA507555397 | BCKDHA | c.153G>A (p.Lys51=) c.87G>A (p.Lys29=) n.173G>A c.255G>A (p.Lys85=) n.395G>A | gnomAD v4 |
19 | g.41410681G>C | CA406004624 | BCKDHA | c.153G>C (p.Lys51Asn) c.87G>C (p.Lys29Asn) n.173G>C c.255G>C (p.Lys85Asn) n.395G>C | |
19 | g.41410681G>T | CA406004625 | BCKDHA | c.153G>T (p.Lys51Asn) c.87G>T (p.Lys29Asn) n.173G>T c.255G>T (p.Lys85Asn) n.395G>T | gnomAD v4 |
19 | g.41410682C>A | CA406004626 | BCKDHA | c.154C>A (p.Pro52Thr) c.88C>A (p.Pro30Thr) n.174C>A c.256C>A (p.Pro86Thr) n.396C>A | |
19 | g.41410682C>G | CA406004627 | BCKDHA | c.154C>G (p.Pro52Ala) c.88C>G (p.Pro30Ala) n.174C>G c.256C>G (p.Pro86Ala) n.396C>G | |
19 | g.41410682C>T | CA406004628 | BCKDHA | c.154C>T (p.Pro52Ser) c.88C>T (p.Pro30Ser) n.174C>T c.256C>T (p.Pro86Ser) n.396C>T | gnomAD v4 |
19 | g.41410683C>A | CA406004629 | BCKDHA | c.155C>A (p.Pro52His) c.89C>A (p.Pro30His) n.175C>A c.257C>A (p.Pro86His) n.397C>A | |
19 | g.41410683C>G | CA406004630 | BCKDHA | c.155C>G (p.Pro52Arg) c.89C>G (p.Pro30Arg) n.175C>G c.257C>G (p.Pro86Arg) n.397C>G | |
19 | g.41410683C>T | CA406004631 | BCKDHA | c.155C>T (p.Pro52Leu) c.89C>T (p.Pro30Leu) n.175C>T c.257C>T (p.Pro86Leu) n.397C>T | |
19 | g.41410684C>A | CA507555398 | BCKDHA | c.156C>A (p.Pro52=) c.90C>A (p.Pro30=) n.176C>A c.258C>A (p.Pro86=) n.398C>A | |
19 | g.41410684C= | CA2336453776 | BCKDHA | c.156C= (p.Pro52=) c.90C= (p.Pro30=) n.176C= c.258C= (p.Pro86=) n.398C= | |
19 | g.41410684C>G | CA507555399 | BCKDHA | c.156C>G (p.Pro52=) c.90C>G (p.Pro30=) n.176C>G c.258C>G (p.Pro86=) n.398C>G | |
19 | g.41410684C>T | CA507555400 | BCKDHA | c.156C>T (p.Pro52=) c.90C>T (p.Pro30=) n.176C>T c.258C>T (p.Pro86=) n.398C>T | ClinVar dbSNP gnomAD v4 |
19 | g.41410685C>A | CA406004632 | BCKDHA | c.157C>A (p.Gln53Lys) c.91C>A (p.Gln31Lys) n.177C>A c.259C>A (p.Gln87Lys) n.399C>A | |
19 | g.41410685C>G | CA406004633 | BCKDHA | c.157C>G (p.Gln53Glu) c.91C>G (p.Gln31Glu) n.177C>G c.259C>G (p.Gln87Glu) n.399C>G | |
19 | g.41410685C>T | CA406004634 | BCKDHA | c.157C>T (p.Gln53Ter) c.91C>T (p.Gln31Ter) n.177C>T c.259C>T (p.Gln87Ter) n.399C>T | |
19 | g.41410686A>C | CA406004635 | BCKDHA | c.158A>C (p.Gln53Pro) c.92A>C (p.Gln31Pro) n.178A>C c.260A>C (p.Gln87Pro) n.400A>C | |
19 | g.41410686A>G | CA406004636 | BCKDHA | c.158A>G (p.Gln53Arg) c.92A>G (p.Gln31Arg) n.178A>G c.260A>G (p.Gln87Arg) n.400A>G | |
19 | g.41410686A>T | CA406004637 | BCKDHA | c.158A>T (p.Gln53Leu) c.92A>T (p.Gln31Leu) n.178A>T c.260A>T (p.Gln87Leu) n.400A>T | |
19 | g.41410687G>A | CA9461013 | BCKDHA | c.159G>A (p.Gln53=) c.93G>A (p.Gln31=) n.179G>A c.261G>A (p.Gln87=) n.401G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41410687G>C | CA9461012 | BCKDHA | c.159G>C (p.Gln53His) c.93G>C (p.Gln31His) n.179G>C c.261G>C (p.Gln87His) n.401G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410687G= | CA2336453777 | BCKDHA | c.159G= (p.Gln53=) c.93G= (p.Gln31=) n.179G= c.261G= (p.Gln87=) n.401G= | |
19 | g.41410687G>T | CA406004638 | BCKDHA | c.159G>T (p.Gln53His) c.93G>T (p.Gln31His) n.179G>T c.261G>T (p.Gln87His) n.401G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41410688T>A | CA406004639 | BCKDHA | c.160T>A (p.Phe54Ile) c.94T>A (p.Phe32Ile) n.180T>A c.262T>A (p.Phe88Ile) n.402T>A | |
19 | g.41410688T>C | CA406004640 | BCKDHA | c.160T>C (p.Phe54Leu) c.94T>C (p.Phe32Leu) n.180T>C c.262T>C (p.Phe88Leu) n.402T>C | |
19 | g.41410688T>G | CA406004641 | BCKDHA | c.160T>G (p.Phe54Val) c.94T>G (p.Phe32Val) n.180T>G c.262T>G (p.Phe88Val) n.402T>G | |
19 | g.41410689T>A | CA406004642 | BCKDHA | c.161T>A (p.Phe54Tyr) c.95T>A (p.Phe32Tyr) n.181T>A c.263T>A (p.Phe88Tyr) n.403T>A | |
19 | g.41410689T>C | CA406004643 | BCKDHA | c.161T>C (p.Phe54Ser) c.95T>C (p.Phe32Ser) n.181T>C c.263T>C (p.Phe88Ser) n.403T>C | |
19 | g.41410689T>G | CA406004644 | BCKDHA | c.161T>G (p.Phe54Cys) c.95T>G (p.Phe32Cys) n.181T>G c.263T>G (p.Phe88Cys) n.403T>G | |
19 | g.41410689_41410690delinsTC | CA2336453778 | BCKDHA | c.161_162delinsTC (p.Phe54=) c.95_96delinsTC (p.Phe32=) n.181_182delinsTC c.263_264delinsTC (p.Phe88=) n.403_404delinsTC | |
19 | g.41410690C>A | CA406004646 | BCKDHA | c.162C>A (p.Phe54Leu) c.96C>A (p.Phe32Leu) n.182C>A c.264C>A (p.Phe88Leu) n.404C>A | |
19 | g.41410690C>G | CA406004645 | BCKDHA | c.162C>G (p.Phe54Leu) c.96C>G (p.Phe32Leu) n.182C>G c.264C>G (p.Phe88Leu) n.404C>G | |
19 | g.41410690C>T | CA507555401 | BCKDHA | c.162C>T (p.Phe54=) c.96C>T (p.Phe32=) n.182C>T c.264C>T (p.Phe88=) n.404C>T | gnomAD v4 |
19 | g.41410692del | CA2336453779 | BCKDHA | c.164del (p.Pro55GlnfsTer8) c.98del (p.Pro33GlnfsTer8) n.184del c.266del (p.Pro89GlnfsTer8) n.406del | ClinVar dbSNP |
19 | g.41410691C>A | CA406004647 | BCKDHA | c.163C>A (p.Pro55Thr) c.97C>A (p.Pro33Thr) n.183C>A c.265C>A (p.Pro89Thr) n.405C>A | COSMIC |
19 | g.41410691C>G | CA406004648 | BCKDHA | c.163C>G (p.Pro55Ala) c.97C>G (p.Pro33Ala) n.183C>G c.265C>G (p.Pro89Ala) n.405C>G | |
19 | g.41410691C>T | CA406004649 | BCKDHA | c.163C>T (p.Pro55Ser) c.97C>T (p.Pro33Ser) n.183C>T c.265C>T (p.Pro89Ser) n.405C>T | |
19 | g.41410692C>A | CA406004650 | BCKDHA | c.164C>A (p.Pro55Gln) c.98C>A (p.Pro33Gln) n.184C>A c.266C>A (p.Pro89Gln) n.406C>A | |
19 | g.41410692C>G | CA406004651 | BCKDHA | c.164C>G (p.Pro55Arg) c.98C>G (p.Pro33Arg) n.184C>G c.266C>G (p.Pro89Arg) n.406C>G | COSMIC |
19 | g.41410692C>T | CA406004652 | BCKDHA | c.164C>T (p.Pro55Leu) c.98C>T (p.Pro33Leu) n.184C>T c.266C>T (p.Pro89Leu) n.406C>T | |
19 | g.41410693A= | CA2336453780 | BCKDHA | c.165A= (p.Pro55=) c.99A= (p.Pro33=) n.185A= c.267A= (p.Pro89=) n.407A= | |
19 | g.41410693A>C | CA507555402 | BCKDHA | c.165A>C (p.Pro55=) c.99A>C (p.Pro33=) n.185A>C c.267A>C (p.Pro89=) n.407A>C | |
19 | g.41410693A>G | CA507555404 | BCKDHA | c.165A>G (p.Pro55=) c.99A>G (p.Pro33=) n.185A>G c.267A>G (p.Pro89=) n.407A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41410693A>T | CA507555403 | BCKDHA | c.165A>T (p.Pro55=) c.99A>T (p.Pro33=) n.185A>T c.267A>T (p.Pro89=) n.407A>T | |
19 | g.41410694G>A | CA406004655 | BCKDHA | c.166G>A (p.Gly56Arg) c.100G>A (p.Gly34Arg) n.186G>A c.268G>A (p.Gly90Arg) n.408G>A | |
19 | g.41410694G>C | CA406004653 | BCKDHA | c.166G>C (p.Gly56Arg) c.100G>C (p.Gly34Arg) n.186G>C c.268G>C (p.Gly90Arg) n.408G>C | |
19 | g.41410694G>T | CA406004654 | BCKDHA | c.166G>T (p.Gly56Trp) c.100G>T (p.Gly34Trp) n.186G>T c.268G>T (p.Gly90Trp) n.408G>T | |
19 | g.41410695G>A | CA406004656 | BCKDHA | c.167G>A (p.Gly56Glu) c.101G>A (p.Gly34Glu) n.187G>A c.269G>A (p.Gly90Glu) n.409G>A | gnomAD v4 |
19 | g.41410695G>C | CA406004657 | BCKDHA | c.167G>C (p.Gly56Ala) c.101G>C (p.Gly34Ala) n.187G>C c.269G>C (p.Gly90Ala) n.409G>C | |
19 | g.41410695G>T | CA406004658 | BCKDHA | c.167G>T (p.Gly56Val) c.101G>T (p.Gly34Val) n.187G>T c.269G>T (p.Gly90Val) n.409G>T | |
19 | g.41410696G>A | CA507555405 | BCKDHA | c.168G>A (p.Gly56=) c.102G>A (p.Gly34=) n.188G>A c.270G>A (p.Gly90=) n.410G>A | |
19 | g.41410696G>C | CA507555406 | BCKDHA | c.168G>C (p.Gly56=) c.102G>C (p.Gly34=) n.188G>C c.270G>C (p.Gly90=) n.410G>C | |
19 | g.41410696G>T | CA507555407 | BCKDHA | c.168G>T (p.Gly56=) c.102G>T (p.Gly34=) n.188G>T c.270G>T (p.Gly90=) n.410G>T | |
19 | g.41410697G>A | CA9461014 | BCKDHA | c.169G>A (p.Ala57Thr) c.103G>A (p.Ala35Thr) n.189G>A c.271G>A (p.Ala91Thr) n.411G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41410697G>C | CA406004659 | BCKDHA | c.169G>C (p.Ala57Pro) c.103G>C (p.Ala35Pro) n.189G>C c.271G>C (p.Ala91Pro) n.411G>C | gnomAD v4 |
19 | g.41410697G= | CA2336453781 | BCKDHA | c.169G= (p.Ala57=) c.103G= (p.Ala35=) n.189G= c.271G= (p.Ala91=) n.411G= | |
19 | g.41410697G>T | CA406004660 | BCKDHA | c.169G>T (p.Ala57Ser) c.103G>T (p.Ala35Ser) n.189G>T c.271G>T (p.Ala91Ser) n.411G>T | gnomAD v4 |
19 | g.41410698C>A | CA406004661 | BCKDHA | c.170C>A (p.Ala57Asp) c.104C>A (p.Ala35Asp) n.190C>A c.272C>A (p.Ala91Asp) n.412C>A | |
19 | g.41410698C= | CA2336453782 | BCKDHA | c.170C= (p.Ala57=) c.104C= (p.Ala35=) n.190C= c.272C= (p.Ala91=) n.412C= | |
19 | g.41410698C>G | CA406004662 | BCKDHA | c.170C>G (p.Ala57Gly) c.104C>G (p.Ala35Gly) n.190C>G c.272C>G (p.Ala91Gly) n.412C>G | |
19 | g.41410698C>T | CA406004663 | BCKDHA | c.170C>T (p.Ala57Val) c.104C>T (p.Ala35Val) n.190C>T c.272C>T (p.Ala91Val) n.412C>T | dbSNP |
19 | g.41410699C>A | CA507555408 | BCKDHA | c.171C>A (p.Ala57=) c.105C>A (p.Ala35=) n.191C>A c.273C>A (p.Ala91=) n.413C>A | |
19 | g.41410699C= | CA2336453783 | BCKDHA | c.171C= (p.Ala57=) c.105C= (p.Ala35=) n.191C= c.273C= (p.Ala91=) n.413C= | |
19 | g.41410699C>G | CA507555409 | BCKDHA | c.171C>G (p.Ala57=) c.105C>G (p.Ala35=) n.191C>G c.273C>G (p.Ala91=) n.413C>G | |
19 | g.41410699C>T | CA507555410 | BCKDHA | c.171C>T (p.Ala57=) c.105C>T (p.Ala35=) n.191C>T c.273C>T (p.Ala91=) n.413C>T | ClinVar dbSNP gnomAD v4 |
19 | g.41410700T>A | CA406004664 | BCKDHA | c.172T>A (p.Ser58Thr) c.106T>A (p.Ser36Thr) n.192T>A c.274T>A (p.Ser92Thr) n.414T>A | |
19 | g.41410700T>C | CA406004665 | BCKDHA | c.172T>C (p.Ser58Pro) c.106T>C (p.Ser36Pro) n.192T>C c.274T>C (p.Ser92Pro) n.414T>C | |
19 | g.41410700T>G | CA406004666 | BCKDHA | c.172T>G (p.Ser58Ala) c.106T>G (p.Ser36Ala) n.192T>G c.274T>G (p.Ser92Ala) n.414T>G | |
19 | g.41410701C>A | CA406004667 | BCKDHA | c.173C>A (p.Ser58Ter) c.107C>A (p.Ser36Ter) n.193C>A c.275C>A (p.Ser92Ter) n.415C>A | |
19 | g.41410701C= | CA2336453784 | BCKDHA | c.173C= (p.Ser58=) c.107C= (p.Ser36=) n.193C= c.275C= (p.Ser92=) n.415C= | |
19 | g.41410701C>G | CA406004668 | BCKDHA | c.173C>G (p.Ser58Trp) c.107C>G (p.Ser36Trp) n.193C>G c.275C>G (p.Ser92Trp) n.415C>G | |
19 | g.41410701C>T | CA308515239 | BCKDHA | c.173C>T (p.Ser58Leu) c.107C>T (p.Ser36Leu) n.193C>T c.275C>T (p.Ser92Leu) n.415C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41410702G>A | CA9461015 | BCKDHA | c.174G>A (p.Ser58=) c.108G>A (p.Ser36=) n.194G>A c.276G>A (p.Ser92=) n.416G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41410702G>C | CA507555411 | BCKDHA | c.174G>C (p.Ser58=) c.108G>C (p.Ser36=) n.194G>C c.276G>C (p.Ser92=) n.416G>C | |
19 | g.41410702G= | CA2336453785 | BCKDHA | c.174G= (p.Ser58=) c.108G= (p.Ser36=) n.194G= c.276G= (p.Ser92=) n.416G= | |
19 | g.41410702G>T | CA9461016 | BCKDHA | c.174G>T (p.Ser58=) c.108G>T (p.Ser36=) n.194G>T c.276G>T (p.Ser92=) n.416G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41410703G>A | CA406004669 | BCKDHA | c.175G>A (p.Ala59Thr) c.109G>A (p.Ala37Thr) n.195G>A c.277G>A (p.Ala93Thr) n.417G>A | |
19 | g.41410703G>C | CA406004670 | BCKDHA | c.175G>C (p.Ala59Pro) c.109G>C (p.Ala37Pro) n.195G>C c.277G>C (p.Ala93Pro) n.417G>C | |
19 | g.41410703G>T | CA406004671 | BCKDHA | c.175G>T (p.Ala59Ser) c.109G>T (p.Ala37Ser) n.195G>T c.277G>T (p.Ala93Ser) n.417G>T | |
19 | g.41410704C>A | CA406004672 | BCKDHA | c.176C>A (p.Ala59Glu) c.110C>A (p.Ala37Glu) n.196C>A c.278C>A (p.Ala93Glu) n.418C>A | |
19 | g.41410704C= | CA2336453786 | BCKDHA | c.176C= (p.Ala59=) c.110C= (p.Ala37=) n.196C= c.278C= (p.Ala93=) n.418C= | |
19 | g.41410704C>G | CA406004673 | BCKDHA | c.176C>G (p.Ala59Gly) c.110C>G (p.Ala37Gly) n.196C>G c.278C>G (p.Ala93Gly) n.418C>G | |
19 | g.41410704C>T | CA9461017 | BCKDHA | c.176C>T (p.Ala59Val) c.110C>T (p.Ala37Val) n.196C>T c.278C>T (p.Ala93Val) n.418C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410705G>A | CA9461018 | BCKDHA | c.177G>A (p.Ala59=) c.111G>A (p.Ala37=) n.197G>A c.279G>A (p.Ala93=) n.419G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410705G>C | CA507555412 | BCKDHA | c.177G>C (p.Ala59=) c.111G>C (p.Ala37=) n.197G>C c.279G>C (p.Ala93=) n.419G>C | |
19 | g.41410705G= | CA2336453787 | BCKDHA | c.177G= (p.Ala59=) c.111G= (p.Ala37=) n.197G= c.279G= (p.Ala93=) n.419G= | |
19 | g.41410705G>T | CA507555413 | BCKDHA | c.177G>T (p.Ala59=) c.111G>T (p.Ala37=) n.197G>T c.279G>T (p.Ala93=) n.419G>T | |
19 | g.41410706G>A | CA406004674 | BCKDHA | c.178G>A (p.Glu60Lys) c.112G>A (p.Glu38Lys) n.198G>A c.280G>A (p.Glu94Lys) n.420G>A | |
19 | g.41410706G>C | CA406004675 | BCKDHA | c.178G>C (p.Glu60Gln) c.112G>C (p.Glu38Gln) n.198G>C c.280G>C (p.Glu94Gln) n.420G>C | |
19 | g.41410706G>T | CA406004676 | BCKDHA | c.178G>T (p.Glu60Ter) c.112G>T (p.Glu38Ter) n.198G>T c.280G>T (p.Glu94Ter) n.420G>T | |
19 | g.41410707A= | CA2336453788 | BCKDHA | c.179A= (p.Glu60=) c.113A= (p.Glu38=) n.199A= c.281A= (p.Glu94=) n.421A= | |
19 | g.41410707A>C | CA406004677 | BCKDHA | c.179A>C (p.Glu60Ala) c.113A>C (p.Glu38Ala) n.199A>C c.281A>C (p.Glu94Ala) n.421A>C | |
19 | g.41410707A>G | CA9461019 | BCKDHA | c.179A>G (p.Glu60Gly) c.113A>G (p.Glu38Gly) n.199A>G c.281A>G (p.Glu94Gly) n.421A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41410707A>T | CA406004678 | BCKDHA | c.179A>T (p.Glu60Val) c.113A>T (p.Glu38Val) n.199A>T c.281A>T (p.Glu94Val) n.421A>T | |
19 | g.41410708G>A | CA507555415 | BCKDHA | c.180G>A (p.Glu60=) c.114G>A (p.Glu38=) n.200G>A c.282G>A (p.Glu94=) n.422G>A | |
19 | g.41410708G>C | CA406004679 | BCKDHA | c.180G>C (p.Glu60Asp) c.114G>C (p.Glu38Asp) n.200G>C c.282G>C (p.Glu94Asp) n.422G>C | |
19 | g.41410708G>T | CA406004680 | BCKDHA | c.180G>T (p.Glu60Asp) c.114G>T (p.Glu38Asp) n.200G>T c.282G>T (p.Glu94Asp) n.422G>T | |
19 | g.41410709T>A | CA406004681 | BCKDHA | c.181T>A (p.Phe61Ile) c.115T>A (p.Phe39Ile) n.201T>A c.283T>A (p.Phe95Ile) n.423T>A | |
19 | g.41410709T>C | CA406004682 | BCKDHA | c.181T>C (p.Phe61Leu) c.115T>C (p.Phe39Leu) n.201T>C c.283T>C (p.Phe95Leu) n.423T>C | COSMIC |
19 | g.41410709T>G | CA406004683 | BCKDHA | c.181T>G (p.Phe61Val) c.115T>G (p.Phe39Val) n.201T>G c.283T>G (p.Phe95Val) n.423T>G | |
19 | g.41410710T>A | CA406004684 | BCKDHA | c.182T>A (p.Phe61Tyr) c.116T>A (p.Phe39Tyr) n.202T>A c.284T>A (p.Phe95Tyr) n.424T>A | |
19 | g.41410710T>C | CA406004685 | BCKDHA | c.182T>C (p.Phe61Ser) c.116T>C (p.Phe39Ser) n.202T>C c.284T>C (p.Phe95Ser) n.424T>C | |
19 | g.41410710T>G | CA406004686 | BCKDHA | c.182T>G (p.Phe61Cys) c.116T>G (p.Phe39Cys) n.202T>G c.284T>G (p.Phe95Cys) n.424T>G | |
19 | g.41410711T>A | CA406004687 | BCKDHA | c.183T>A (p.Phe61Leu) c.117T>A (p.Phe39Leu) n.203T>A c.285T>A (p.Phe95Leu) n.425T>A | |
19 | g.41410711T>C | CA507555418 | BCKDHA | c.183T>C (p.Phe61=) c.117T>C (p.Phe39=) n.203T>C c.285T>C (p.Phe95=) n.425T>C | ClinVar |
19 | g.41410711T>G | CA406004688 | BCKDHA | c.183T>G (p.Phe61Leu) c.117T>G (p.Phe39Leu) n.203T>G c.285T>G (p.Phe95Leu) n.425T>G | |
19 | g.41410712A= | CA2336453789 | BCKDHA | c.184A= (p.Ile62=) c.118A= (p.Ile40=) n.204A= c.286A= (p.Ile96=) n.426A= | |
19 | g.41410712A>C | CA406004689 | BCKDHA | c.184A>C (p.Ile62Leu) c.118A>C (p.Ile40Leu) n.204A>C c.286A>C (p.Ile96Leu) n.426A>C | |
19 | g.41410712A>G | CA406004690 | BCKDHA | c.184A>G (p.Ile62Val) c.118A>G (p.Ile40Val) n.204A>G c.286A>G (p.Ile96Val) n.426A>G | dbSNP |
19 | g.41410712A>T | CA406004691 | BCKDHA | c.184A>T (p.Ile62Leu) c.118A>T (p.Ile40Leu) n.204A>T c.286A>T (p.Ile96Leu) n.426A>T | |
19 | g.41410713T>A | CA406004693 | BCKDHA | c.185T>A (p.Ile62Lys) c.119T>A (p.Ile40Lys) n.205T>A c.287T>A (p.Ile96Lys) n.427T>A | |
19 | g.41410713T>C | CA9461020 | BCKDHA | c.185T>C (p.Ile62Thr) c.119T>C (p.Ile40Thr) n.205T>C c.287T>C (p.Ile96Thr) n.427T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41410713T>G | CA406004692 | BCKDHA | c.185T>G (p.Ile62Arg) c.119T>G (p.Ile40Arg) n.205T>G c.287T>G (p.Ile96Arg) n.427T>G | |
19 | g.41410713T= | CA2336453790 | BCKDHA | c.185T= (p.Ile62=) c.119T= (p.Ile40=) n.205T= c.287T= (p.Ile96=) n.427T= | |
19 | g.41410714A= | CA2336453791 | BCKDHA | c.186A= (p.Ile62=) c.120A= (p.Ile40=) n.206A= c.288A= (p.Ile96=) n.428A= | |
19 | g.41410714A>C | CA507555419 | BCKDHA | c.186A>C (p.Ile62=) c.120A>C (p.Ile40=) n.206A>C c.288A>C (p.Ile96=) n.428A>C | |
19 | g.41410714A>G | CA9461021 | BCKDHA | c.186A>G (p.Ile62Met) c.120A>G (p.Ile40Met) n.206A>G c.288A>G (p.Ile96Met) n.428A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410714A>T | CA308515276 | BCKDHA | c.186A>T (p.Ile62=) c.120A>T (p.Ile40=) n.206A>T c.288A>T (p.Ile96=) n.428A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41410715del | CA2585306802 | BCKDHA | c.187del (p.Asp63IlefsTer?) c.121del (p.Asp41IlefsTer?) n.207del c.289del (p.Asp97IlefsTer?) n.429del | gnomAD v4 |
19 | g.41410715G>A | CA406004694 | BCKDHA | c.187G>A (p.Asp63Asn) c.121G>A (p.Asp41Asn) n.207G>A c.289G>A (p.Asp97Asn) n.429G>A | |
19 | g.41410715G>C | CA406004695 | BCKDHA | c.187G>C (p.Asp63His) c.121G>C (p.Asp41His) n.207G>C c.289G>C (p.Asp97His) n.429G>C | |
19 | g.41410715G>T | CA406004696 | BCKDHA | c.187G>T (p.Asp63Tyr) c.121G>T (p.Asp41Tyr) n.207G>T c.289G>T (p.Asp97Tyr) n.429G>T | |
19 | g.41410716A>C | CA406004697 | BCKDHA | c.188A>C (p.Asp63Ala) c.122A>C (p.Asp41Ala) n.208A>C c.290A>C (p.Asp97Ala) n.430A>C | |
19 | g.41410716A>G | CA406004698 | BCKDHA | c.188A>G (p.Asp63Gly) c.122A>G (p.Asp41Gly) n.208A>G c.290A>G (p.Asp97Gly) n.430A>G | gnomAD v4 |
19 | g.41410716A>T | CA406004699 | BCKDHA | c.188A>T (p.Asp63Val) c.122A>T (p.Asp41Val) n.208A>T c.290A>T (p.Asp97Val) n.430A>T | gnomAD v4 |
19 | g.41410717T>A | CA406004700 | BCKDHA | c.189T>A (p.Asp63Glu) c.123T>A (p.Asp41Glu) n.209T>A c.291T>A (p.Asp97Glu) n.431T>A | |
19 | g.41410717T>C | CA507555420 | BCKDHA | c.189T>C (p.Asp63=) c.123T>C (p.Asp41=) n.209T>C c.291T>C (p.Asp97=) n.431T>C | |
19 | g.41410717T>G | CA406004701 | BCKDHA | c.189T>G (p.Asp63Glu) c.123T>G (p.Asp41Glu) n.209T>G c.291T>G (p.Asp97Glu) n.431T>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41410717T= | CA2336453792 | BCKDHA | c.189T= (p.Asp63=) c.123T= (p.Asp41=) n.209T= c.291T= (p.Asp97=) n.431T= | |
19 | g.41410718A>C | CA406004702 | BCKDHA | c.190A>C (p.Lys64Gln) c.124A>C (p.Lys42Gln) n.210A>C c.292A>C (p.Lys98Gln) n.432A>C | |
19 | g.41410718A>G | CA406004703 | BCKDHA | c.190A>G (p.Lys64Glu) c.124A>G (p.Lys42Glu) n.210A>G c.292A>G (p.Lys98Glu) n.432A>G | |
19 | g.41410718A>T | CA406004704 | BCKDHA | c.190A>T (p.Lys64Ter) c.124A>T (p.Lys42Ter) n.210A>T c.292A>T (p.Lys98Ter) n.432A>T | |
19 | g.41410719A= | CA2336453793 | BCKDHA | c.191A= (p.Lys64=) c.125A= (p.Lys42=) n.211A= c.293A= (p.Lys98=) n.433A= | |
19 | g.41410719A>C | CA406004706 | BCKDHA | c.191A>C (p.Lys64Thr) c.125A>C (p.Lys42Thr) n.211A>C c.293A>C (p.Lys98Thr) n.433A>C | dbSNP |
19 | g.41410719A>G | CA406004707 | BCKDHA | c.191A>G (p.Lys64Arg) c.125A>G (p.Lys42Arg) n.211A>G c.293A>G (p.Lys98Arg) n.433A>G | |
19 | g.41410719A>T | CA406004705 | BCKDHA | c.191A>T (p.Lys64Met) c.125A>T (p.Lys42Met) n.211A>T c.293A>T (p.Lys98Met) n.433A>T | |
19 | g.41410720G>A | CA9461022 | BCKDHA | c.192G>A (p.Lys64=) c.126G>A (p.Lys42=) n.212G>A c.294G>A (p.Lys98=) n.434G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41410720G>C | CA406004708 | BCKDHA | c.192G>C (p.Lys64Asn) c.126G>C (p.Lys42Asn) n.212G>C c.294G>C (p.Lys98Asn) n.434G>C | |
19 | g.41410720G= | CA2336453794 | BCKDHA | c.192G= (p.Lys64=) c.126G= (p.Lys42=) n.212G= c.294G= (p.Lys98=) n.434G= | |
19 | g.41410720G>T | CA406004709 | BCKDHA | c.192G>T (p.Lys64Asn) c.126G>T (p.Lys42Asn) n.212G>T c.294G>T (p.Lys98Asn) n.434G>T | |
19 | g.41410721T>A | CA406004710 | BCKDHA | c.193T>A (p.Leu65Met) c.127T>A (p.Leu43Met) n.213T>A c.295T>A (p.Leu99Met) n.435T>A | |
19 | g.41410721T>C | CA507555422 | BCKDHA | c.193T>C (p.Leu65=) c.127T>C (p.Leu43=) n.213T>C c.295T>C (p.Leu99=) n.435T>C | |
19 | g.41410721T>G | CA406004711 | BCKDHA | c.193T>G (p.Leu65Val) c.127T>G (p.Leu43Val) n.213T>G c.295T>G (p.Leu99Val) n.435T>G | |
19 | g.41410722T>A | CA406004714 | BCKDHA | c.194T>A (p.Leu65Ter) c.128T>A (p.Leu43Ter) n.214T>A c.296T>A (p.Leu99Ter) c.1T>A n.436T>A | |
19 | g.41410722T>C | CA406004712 | BCKDHA | c.194T>C (p.Leu65Ser) c.128T>C (p.Leu43Ser) n.214T>C c.296T>C (p.Leu99Ser) c.1T>C n.436T>C | |
19 | g.41410722T>G | CA406004713 | BCKDHA | c.194T>G (p.Leu65Trp) c.128T>G (p.Leu43Trp) n.214T>G c.296T>G (p.Leu99Trp) c.1T>G n.436T>G | |
19 | g.41410723G>A | CA507555426 | BCKDHA | c.195G>A (p.Leu65=) c.129G>A (p.Leu43=) n.215G>A c.297G>A (p.Leu99=) c.2G>A n.437G>A | |
19 | g.41410723G>C | CA406004715 | BCKDHA | c.195G>C (p.Leu65Phe) c.129G>C (p.Leu43Phe) n.215G>C c.297G>C (p.Leu99Phe) c.2G>C n.437G>C | |
19 | g.41410723G>T | CA406004716 | BCKDHA | c.195G>T (p.Leu65Phe) c.129G>T (p.Leu43Phe) n.215G>T c.297G>T (p.Leu99Phe) c.2G>T n.437G>T | |
19 | g.41410724G>A | CA406004717 | BCKDHA | c.196G>A (p.Glu66Lys) c.130G>A (p.Glu44Lys) n.216G>A c.298G>A (p.Glu100Lys) c.3G>A n.438G>A | |
19 | g.41410724G>C | CA406004718 | BCKDHA | c.196G>C (p.Glu66Gln) c.130G>C (p.Glu44Gln) n.216G>C c.298G>C (p.Glu100Gln) c.3G>C n.438G>C | |
19 | g.41410724G= | CA2336453795 | BCKDHA | c.196G= (p.Glu66=) c.130G= (p.Glu44=) n.216G= c.298G= (p.Glu100=) c.3G= n.438G= | |
19 | g.41410724G>T | CA406004719 | BCKDHA | c.196G>T (p.Glu66Ter) c.130G>T (p.Glu44Ter) n.216G>T c.298G>T (p.Glu100Ter) c.3G>T n.438G>T | ClinVar dbSNP |
19 | g.41410725A>C | CA406004722 | BCKDHA | c.197A>C (p.Glu66Ala) c.131A>C (p.Glu44Ala) n.217A>C c.299A>C (p.Glu100Ala) c.4A>C n.439A>C | |
19 | g.41410725A>G | CA406004721 | BCKDHA | c.197A>G (p.Glu66Gly) c.131A>G (p.Glu44Gly) n.217A>G c.299A>G (p.Glu100Gly) c.4A>G n.439A>G | |
19 | g.41410725A>T | CA406004720 | BCKDHA | c.197A>T (p.Glu66Val) c.131A>T (p.Glu44Val) n.217A>T c.299A>T (p.Glu100Val) c.4A>T n.439A>T | |
19 | g.41410726A= | CA2336453796 | BCKDHA | c.198A= (p.Glu66=) c.132A= (p.Glu44=) n.218A= c.300A= (p.Glu100=) c.5A= n.440A= | |
19 | g.41410726A>C | CA406004723 | BCKDHA | c.198A>C (p.Glu66Asp) c.132A>C (p.Glu44Asp) n.218A>C c.300A>C (p.Glu100Asp) c.5A>C n.440A>C | |
19 | g.41410726A>G | CA507555427 | BCKDHA | c.198A>G (p.Glu66=) c.132A>G (p.Glu44=) n.218A>G c.300A>G (p.Glu100=) c.5A>G n.440A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41410726A>T | CA406004724 | BCKDHA | c.198A>T (p.Glu66Asp) c.132A>T (p.Glu44Asp) n.218A>T c.300A>T (p.Glu100Asp) c.5A>T n.440A>T | |
19 | g.41410727T>A | CA406004725 | BCKDHA | c.199T>A (p.Phe67Ile) c.133T>A (p.Phe45Ile) n.219T>A c.301T>A (p.Phe101Ile) c.6T>A n.441T>A | |
19 | g.41410727T>C | CA406004727 | BCKDHA | c.199T>C (p.Phe67Leu) c.133T>C (p.Phe45Leu) n.219T>C c.301T>C (p.Phe101Leu) c.6T>C n.441T>C | |
19 | g.41410727T>G | CA406004726 | BCKDHA | c.199T>G (p.Phe67Val) c.133T>G (p.Phe45Val) n.219T>G c.301T>G (p.Phe101Val) c.6T>G n.441T>G | |
19 | g.41410728T>A | CA406004728 | BCKDHA | c.200T>A (p.Phe67Tyr) c.134T>A (p.Phe45Tyr) n.220T>A c.302T>A (p.Phe101Tyr) c.7T>A n.442T>A | |
19 | g.41410728T>C | CA406004730 | BCKDHA | c.200T>C (p.Phe67Ser) c.134T>C (p.Phe45Ser) n.220T>C c.302T>C (p.Phe101Ser) c.7T>C n.442T>C | |
19 | g.41410728T>G | CA406004729 | BCKDHA | c.200T>G (p.Phe67Cys) c.134T>G (p.Phe45Cys) n.220T>G c.302T>G (p.Phe101Cys) c.7T>G n.442T>G | |
19 | g.41410729C>A | CA406004731 | BCKDHA | c.201C>A (p.Phe67Leu) c.135C>A (p.Phe45Leu) n.221C>A c.303C>A (p.Phe101Leu) c.8C>A n.443C>A | |
19 | g.41410729C>G | CA406004732 | BCKDHA | c.201C>G (p.Phe67Leu) c.135C>G (p.Phe45Leu) n.221C>G c.303C>G (p.Phe101Leu) c.8C>G n.443C>G | |
19 | g.41410729C>T | CA507555430 | BCKDHA | c.201C>T (p.Phe67=) c.135C>T (p.Phe45=) n.221C>T c.303C>T (p.Phe101=) c.8C>T n.443C>T | |
19 | g.41410730A= | CA2336453797 | BCKDHA | c.202A= (p.Ile68=) c.136A= (p.Ile46=) n.222A= c.304A= (p.Ile102=) c.9A= n.444A= | |
19 | g.41410730A>C | CA406004733 | BCKDHA | c.202A>C (p.Ile68Leu) c.136A>C (p.Ile46Leu) n.222A>C c.304A>C (p.Ile102Leu) c.9A>C n.444A>C | |
19 | g.41410730A>G | CA9461023 | BCKDHA | c.202A>G (p.Ile68Val) c.136A>G (p.Ile46Val) n.222A>G c.304A>G (p.Ile102Val) c.9A>G n.444A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410730A>T | CA406004734 | BCKDHA | c.202A>T (p.Ile68Phe) c.136A>T (p.Ile46Phe) n.222A>T c.304A>T (p.Ile102Phe) c.9A>T n.444A>T | |
19 | g.41410731T>A | CA9461024 | BCKDHA | c.203T>A (p.Ile68Asn) c.137T>A (p.Ile46Asn) n.223T>A c.305T>A (p.Ile102Asn) c.10T>A n.445T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41410731T>C | CA406004735 | BCKDHA | c.203T>C (p.Ile68Thr) c.137T>C (p.Ile46Thr) n.223T>C c.305T>C (p.Ile102Thr) c.10T>C n.445T>C | |
19 | g.41410731T>G | CA406004736 | BCKDHA | c.203T>G (p.Ile68Ser) c.137T>G (p.Ile46Ser) n.223T>G c.305T>G (p.Ile102Ser) c.10T>G n.445T>G | |
19 | g.41410731T= | CA2336453798 | BCKDHA | c.203T= (p.Ile68=) c.137T= (p.Ile46=) n.223T= c.305T= (p.Ile102=) c.10T= n.445T= | |
19 | g.41410732C>A | CA507555433 | BCKDHA | c.204C>A (p.Ile68=) c.138C>A (p.Ile46=) n.224C>A c.306C>A (p.Ile102=) c.11C>A n.446C>A | ClinVar dbSNP |
19 | g.41410732C>G | CA406004737 | BCKDHA | c.204C>G (p.Ile68Met) c.138C>G (p.Ile46Met) n.224C>G c.306C>G (p.Ile102Met) c.11C>G n.446C>G | |
19 | g.41410732C>T | CA507555435 | BCKDHA | c.204C>T (p.Ile68=) c.138C>T (p.Ile46=) n.224C>T c.306C>T (p.Ile102=) c.11C>T n.446C>T | |
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 |