Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.73683264G>A | CA160072675 | BUD23,DNAJC30 | c.160C>T (p.Leu54Phe) n.240G>A | dbSNP gnomAD v4 |
7 | g.73683264G>C | CA367827742 | BUD23,DNAJC30 | c.160C>G (p.Leu54Val) n.240G>C | |
7 | g.73683264G= | CA1717166395 | BUD23,DNAJC30 | c.160C= (p.Leu54=) n.240G= | |
7 | g.73683264G>T | CA367827735 | BUD23,DNAJC30 | c.160C>A (p.Leu54Ile) n.240G>T | COSMIC |
7 | g.73683265C>A | CA456052838 | BUD23,DNAJC30 | c.159G>T (p.Leu53=) n.241C>A | |
7 | g.73683265C= | CA1717166396 | BUD23,DNAJC30 | c.159G= (p.Leu53=) n.241C= | |
7 | g.73683265C>G | CA456052840 | BUD23,DNAJC30 | c.159G>C (p.Leu53=) n.241C>G | dbSNP gnomAD v4 |
7 | g.73683265C>T | CA456052836 | BUD23,DNAJC30 | c.159G>A (p.Leu53=) n.241C>T | |
7 | g.73683266A>C | CA367827746 | BUD23,DNAJC30 | c.158T>G (p.Leu53Arg) n.242A>C | |
7 | g.73683266A>G | CA367827749 | BUD23,DNAJC30 | c.158T>C (p.Leu53Pro) n.242A>G | |
7 | g.73683266A>T | CA367827750 | BUD23,DNAJC30 | c.158T>A (p.Leu53Gln) n.242A>T | |
7 | g.73683267del | CA2683240421 | BUD23,DNAJC30 | c.157del (p.Leu53CysfsTer?) n.243del | gnomAD v4 |
7 | g.73683267G>A | CA456052843 | BUD23,DNAJC30 | c.157C>T (p.Leu53=) n.243G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683267G>C | CA367827753 | BUD23,DNAJC30 | c.157C>G (p.Leu53Val) n.243G>C | |
7 | g.73683267G= | CA1717166397 | BUD23,DNAJC30 | c.157C= (p.Leu53=) n.243G= | |
7 | g.73683267G>T | CA367827754 | BUD23,DNAJC30 | c.157C>A (p.Leu53Met) n.243G>T | |
7 | g.73683268A>C | CA367827755 | BUD23,DNAJC30 | c.156T>G (p.Asp52Glu) n.244A>C | |
7 | g.73683268A>G | CA456052847 | BUD23,DNAJC30 | c.156T>C (p.Asp52=) n.244A>G | |
7 | g.73683268A>T | CA367827756 | BUD23,DNAJC30 | c.156T>A (p.Asp52Glu) n.244A>T | |
7 | g.73683269T>A | CA367827759 | BUD23,DNAJC30 | c.155A>T (p.Asp52Val) n.245T>A | |
7 | g.73683269T>C | CA367827762 | BUD23,DNAJC30 | c.155A>G (p.Asp52Gly) n.245T>C | |
7 | g.73683269T>G | CA367827763 | BUD23,DNAJC30 | c.155A>C (p.Asp52Ala) n.245T>G | |
7 | g.73683270C>A | CA367827767 | BUD23,DNAJC30 | c.154G>T (p.Asp52Tyr) n.246C>A | |
7 | g.73683270C= | CA1717166398 | BUD23,DNAJC30 | c.154G= (p.Asp52=) n.246C= | |
7 | g.73683270C>G | CA367827769 | BUD23,DNAJC30 | c.154G>C (p.Asp52His) n.246C>G | |
7 | g.73683270C>T | CA367827771 | BUD23,DNAJC30 | c.154G>A (p.Asp52Asn) n.246C>T | dbSNP |
7 | g.73683271A>C | CA367827774 | BUD23,DNAJC30 | c.153T>G (p.Tyr51Ter) n.247A>C | |
7 | g.73683271A>G | CA456052853 | BUD23,DNAJC30 | c.153T>C (p.Tyr51=) n.247A>G | |
7 | g.73683271A>T | CA367827776 | BUD23,DNAJC30 | c.153T>A (p.Tyr51Ter) n.247A>T | gnomAD v4 |
7 | g.73683272T>A | CA367827784 | BUD23,DNAJC30 | c.152A>T (p.Tyr51Phe) n.248T>A | |
7 | g.73683272T>C | CA4289988 | BUD23,DNAJC30 | c.152A>G (p.Tyr51Cys) n.248T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683272T>G | CA4289989 | BUD23,DNAJC30 | c.152A>C (p.Tyr51Ser) n.248T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683272T= | CA1717166399 | BUD23,DNAJC30 | c.152A= (p.Tyr51=) n.248T= | |
7 | g.73683273A>C | CA367827790 | BUD23,DNAJC30 | c.151T>G (p.Tyr51Asp) n.249A>C | |
7 | g.73683273A>G | CA367827792 | BUD23,DNAJC30 | c.151T>C (p.Tyr51His) n.249A>G | |
7 | g.73683273A>T | CA367827796 | BUD23,DNAJC30 | c.151T>A (p.Tyr51Asn) n.249A>T | |
7 | g.73683274C>A | CA456052857 | BUD23,DNAJC30 | c.150G>T (p.Leu50=) n.250C>A | |
7 | g.73683274C= | CA1717166400 | BUD23,DNAJC30 | c.150G= (p.Leu50=) n.250C= | |
7 | g.73683274C>G | CA456052858 | BUD23,DNAJC30 | c.150G>C (p.Leu50=) n.250C>G | |
7 | g.73683274C>T | CA4289990 | BUD23,DNAJC30 | c.150G>A (p.Leu50=) n.250C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683275A= | CA1717166401 | BUD23,DNAJC30 | c.149T= (p.Leu50=) n.251A= | |
7 | g.73683275A>C | CA367827805 | BUD23,DNAJC30 | c.149T>G (p.Leu50Arg) n.251A>C | |
7 | g.73683275A>G | CA160072678 | BUD23,DNAJC30 | c.149T>C (p.Leu50Pro) n.251A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683275A>T | CA367827808 | BUD23,DNAJC30 | c.149T>A (p.Leu50Gln) n.251A>T | |
7 | g.73683276G>A | CA4289991 | BUD23,DNAJC30 | c.148C>T (p.Leu50=) n.252G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683276G>C | CA367827816 | BUD23,DNAJC30 | c.148C>G (p.Leu50Val) n.252G>C | |
7 | g.73683276G= | CA1717166402 | BUD23,DNAJC30 | c.148C= (p.Leu50=) n.252G= | |
7 | g.73683276G>T | CA367827813 | BUD23,DNAJC30 | c.148C>A (p.Leu50Met) n.252G>T | |
7 | g.73683277C>A | CA456052861 | BUD23,DNAJC30 | c.147G>T (p.Ala49=) n.253C>A | |
7 | g.73683277C>G | CA456052862 | BUD23,DNAJC30 | c.147G>C (p.Ala49=) n.253C>G | |
7 | g.73683277C>T | CA456052863 | BUD23,DNAJC30 | c.147G>A (p.Ala49=) n.253C>T | |
7 | g.73683278G>A | CA4289992 | BUD23,DNAJC30 | c.146C>T (p.Ala49Val) n.254G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683278G>C | CA367827826 | BUD23,DNAJC30 | c.146C>G (p.Ala49Gly) n.254G>C | ClinVar dbSNP |
7 | g.73683278G= | CA1717166403 | BUD23,DNAJC30 | c.146C= (p.Ala49=) n.254G= | |
7 | g.73683278G>T | CA367827830 | BUD23,DNAJC30 | c.146C>A (p.Ala49Glu) n.254G>T | |
7 | g.73683279C>A | CA367827834 | BUD23,DNAJC30 | c.145G>T (p.Ala49Ser) n.255C>A | |
7 | g.73683279C= | CA1717166404 | BUD23,DNAJC30 | c.145G= (p.Ala49=) n.255C= | |
7 | g.73683279C>G | CA367827836 | BUD23,DNAJC30 | c.145G>C (p.Ala49Pro) n.255C>G | |
7 | g.73683279C>T | CA367827838 | BUD23,DNAJC30 | c.145G>A (p.Ala49Thr) n.255C>T | dbSNP gnomAD v2 |
7 | g.73683280C>A | CA456052868 | BUD23,DNAJC30 | c.144G>T (p.Thr48=) n.256C>A | |
7 | g.73683280C= | CA1717166405 | BUD23,DNAJC30 | c.144G= (p.Thr48=) n.256C= | |
7 | g.73683280C>G | CA456052869 | BUD23,DNAJC30 | c.144G>C (p.Thr48=) n.256C>G | |
7 | g.73683280C>T | CA456052870 | BUD23,DNAJC30 | c.144G>A (p.Thr48=) n.256C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683281G>A | CA4289993 | BUD23,DNAJC30 | c.143C>T (p.Thr48Met) n.257G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683281G>C | CA367827842 | BUD23,DNAJC30 | c.143C>G (p.Thr48Arg) n.257G>C | gnomAD v4 |
7 | g.73683281G= | CA1717166406 | BUD23,DNAJC30 | c.143C= (p.Thr48=) n.257G= | |
7 | g.73683281G>T | CA4289994 | BUD23,DNAJC30 | c.143C>A (p.Thr48Lys) n.257G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683282T>A | CA367827849 | BUD23,DNAJC30 | c.142A>T (p.Thr48Ser) n.258T>A | |
7 | g.73683282T>C | CA367827851 | BUD23,DNAJC30 | c.142A>G (p.Thr48Ala) n.258T>C | |
7 | g.73683282T>G | CA367827853 | BUD23,DNAJC30 | c.142A>C (p.Thr48Pro) n.258T>G | gnomAD v4 |
7 | g.73683283G>A | CA456052874 | BUD23,DNAJC30 | c.141C>T (p.Arg47=) n.259G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683283G>C | CA456052875 | BUD23,DNAJC30 | c.141C>G (p.Arg47=) n.259G>C | |
7 | g.73683283G= | CA1717166407 | BUD23,DNAJC30 | c.141C= (p.Arg47=) n.259G= | |
7 | g.73683283G>T | CA456052876 | BUD23,DNAJC30 | c.141C>A (p.Arg47=) n.259G>T | |
7 | g.73683284C>A | CA367827869 | BUD23,DNAJC30 | c.140G>T (p.Arg47Leu) n.260C>A | |
7 | g.73683284C>G | CA367827868 | BUD23,DNAJC30 | c.140G>C (p.Arg47Pro) n.260C>G | |
7 | g.73683284C>T | CA367827865 | BUD23,DNAJC30 | c.140G>A (p.Arg47His) n.260C>T | |
7 | g.73683285G>A | CA367827870 | BUD23,DNAJC30 | c.139C>T (p.Arg47Cys) n.261G>A | gnomAD v4 |
7 | g.73683285G>C | CA367827871 | BUD23,DNAJC30 | c.139C>G (p.Arg47Gly) n.261G>C | |
7 | g.73683285G>T | CA367827873 | BUD23,DNAJC30 | c.139C>A (p.Arg47Ser) n.261G>T | |
7 | g.73683286C>A | CA456052881 | BUD23,DNAJC30 | c.138G>T (p.Ser46=) n.262C>A | |
7 | g.73683286C= | CA1717166408 | BUD23,DNAJC30 | c.138G= (p.Ser46=) n.262C= | |
7 | g.73683286C>G | CA4289995 | BUD23,DNAJC30 | c.138G>C (p.Ser46=) n.262C>G | dbSNP ExAC gnomAD v2 |
7 | g.73683286C>T | CA456052883 | BUD23,DNAJC30 | c.138G>A (p.Ser46=) n.262C>T | |
7 | g.73683287G>A | CA367827876 | BUD23,DNAJC30 | c.137C>T (p.Ser46Leu) n.263G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683287G>C | CA367827879 | BUD23,DNAJC30 | c.137C>G (p.Ser46Trp) n.263G>C | |
7 | g.73683287G= | CA1717166409 | BUD23,DNAJC30 | c.137C= (p.Ser46=) n.263G= | |
7 | g.73683287G>T | CA367827882 | BUD23,DNAJC30 | c.137C>A (p.Ser46Ter) n.263G>T | |
7 | g.73683288A>C | CA367827891 | BUD23,DNAJC30 | c.136T>G (p.Ser46Ala) n.264A>C | |
7 | g.73683288A>G | CA367827893 | BUD23,DNAJC30 | c.136T>C (p.Ser46Pro) n.264A>G | |
7 | g.73683288A>T | CA367827896 | BUD23,DNAJC30 | c.136T>A (p.Ser46Thr) n.264A>T | |
7 | g.73683289A= | CA1717166410 | BUD23,DNAJC30 | c.135T= (p.Tyr45=) n.265A= | |
7 | g.73683289A>C | CA367827899 | BUD23,DNAJC30 | c.135T>G (p.Tyr45Ter) n.265A>C | |
7 | g.73683289A>G | CA456052888 | BUD23,DNAJC30 | c.135T>C (p.Tyr45=) n.265A>G | |
7 | g.73683289A>T | CA367827900 | BUD23,DNAJC30 | c.135T>A (p.Tyr45Ter) n.265A>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683290T>A | CA367827906 | BUD23,DNAJC30 | c.134A>T (p.Tyr45Phe) n.266T>A | |
7 | g.73683290T>C | CA367827905 | BUD23,DNAJC30 | c.134A>G (p.Tyr45Cys) n.266T>C | |
7 | g.73683290T>G | CA367827902 | BUD23,DNAJC30 | c.134A>C (p.Tyr45Ser) n.266T>G | |
7 | g.73683291A>C | CA367827907 | BUD23,DNAJC30 | c.133T>G (p.Tyr45Asp) n.267A>C | |
7 | g.73683291A>G | CA367827911 | BUD23,DNAJC30 | c.133T>C (p.Tyr45His) n.267A>G | |
7 | g.73683291A>T | CA367827909 | BUD23,DNAJC30 | c.133T>A (p.Tyr45Asn) n.267A>T | |
7 | g.73683292C>A | CA456052890 | BUD23,DNAJC30 | c.132G>T (p.Ser44=) n.268C>A | gnomAD v4 |
7 | g.73683292C= | CA1717166412 | BUD23,DNAJC30 | c.132G= (p.Ser44=) n.268C= | |
7 | g.73683292C>G | CA456052892 | BUD23,DNAJC30 | c.132G>C (p.Ser44=) n.268C>G | |
7 | g.73683292C>T | CA456052894 | BUD23,DNAJC30 | c.132G>A (p.Ser44=) n.268C>T | |
7 | g.73683292_73683294delinsCGA | CA1717166411 | BUD23,DNAJC30 | c.130_132delinsTCG (p.Ser44=) n.268_270delinsCGA | |
7 | g.73683292_73683293insATAAAGGGATGACATTACGGAGTAGGCCTTGTGCT | CA4289997 | BUD23,DNAJC30 | c.131_132insAGCACAAGGCCTACTCCGTAATGTCATCCCTTTAT (p.Tyr45AlafsTer?) n.268_269insATAAAGGGATGACATTACGGAGTAGGCCTTGTGCT | dbSNP ExAC |
7 | g.73683293G>A | CA367827912 | BUD23,DNAJC30 | c.131C>T (p.Ser44Leu) n.269G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683293G>C | CA367827914 | BUD23,DNAJC30 | c.131C>G (p.Ser44Trp) n.269G>C | dbSNP |
7 | g.73683293G= | CA1717166413 | BUD23,DNAJC30 | c.131C= (p.Ser44=) n.269G= | |
7 | g.73683293G>T | CA367827916 | BUD23,DNAJC30 | c.131C>A (p.Ser44Ter) n.269G>T | |
7 | g.73683294_73683295del | CA4289996 | BUD23,DNAJC30 | c.130_131del (p.Ser44ValfsTer8) n.270_271del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683294A= | CA1717166414 | BUD23,DNAJC30 | c.130T= (p.Ser44=) n.270A= | |
7 | g.73683294A>C | CA367827919 | BUD23,DNAJC30 | c.130T>G (p.Ser44Ala) n.270A>C | |
7 | g.73683294A>G | CA367827920 | BUD23,DNAJC30 | c.130T>C (p.Ser44Pro) n.270A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683294A>T | CA367827921 | BUD23,DNAJC30 | c.130T>A (p.Ser44Thr) n.270A>T | |
7 | g.73683295G>A | CA456052901 | BUD23,DNAJC30 | c.129C>T (p.Cys43=) n.271G>A | gnomAD v4 |
7 | g.73683295G>C | CA367827922 | BUD23,DNAJC30 | c.129C>G (p.Cys43Trp) n.271G>C | |
7 | g.73683295G>T | CA367827923 | BUD23,DNAJC30 | c.129C>A (p.Cys43Ter) n.271G>T | |
7 | g.73683296C>A | CA367827926 | BUD23,DNAJC30 | c.128G>T (p.Cys43Phe) n.272C>A | |
7 | g.73683296C= | CA1717166415 | BUD23,DNAJC30 | c.128G= (p.Cys43=) n.272C= | |
7 | g.73683296C>G | CA367827929 | BUD23,DNAJC30 | c.128G>C (p.Cys43Ser) n.272C>G | |
7 | g.73683296C>T | CA367827931 | BUD23,DNAJC30 | c.128G>A (p.Cys43Tyr) n.272C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683297A= | CA1717166416 | BUD23,DNAJC30 | c.127T= (p.Cys43=) n.273A= | |
7 | g.73683297A>C | CA367827934 | BUD23,DNAJC30 | c.127T>G (p.Cys43Gly) n.273A>C | |
7 | g.73683297A>G | CA367827938 | BUD23,DNAJC30 | c.127T>C (p.Cys43Arg) n.273A>G | dbSNP gnomAD v4 |
7 | g.73683297A>T | CA367827936 | BUD23,DNAJC30 | c.127T>A (p.Cys43Ser) n.273A>T | |
7 | g.73683298G>A | CA4289998 | BUD23,DNAJC30 | c.126C>T (p.Asp42=) n.274G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683298G>C | CA367827941 | BUD23,DNAJC30 | c.126C>G (p.Asp42Glu) n.274G>C | |
7 | g.73683298G= | CA1717166417 | BUD23,DNAJC30 | c.126C= (p.Asp42=) n.274G= | |
7 | g.73683298G>T | CA367827944 | BUD23,DNAJC30 | c.126C>A (p.Asp42Glu) n.274G>T | |
7 | g.73683299T>A | CA367827948 | BUD23,DNAJC30 | c.125A>T (p.Asp42Val) n.275T>A | |
7 | g.73683299T>C | CA367827950 | BUD23,DNAJC30 | c.125A>G (p.Asp42Gly) n.275T>C | |
7 | g.73683299T>G | CA367827953 | BUD23,DNAJC30 | c.125A>C (p.Asp42Ala) n.275T>G | |
7 | g.73683300C>A | CA367827957 | BUD23,DNAJC30 | c.124G>T (p.Asp42Tyr) n.276C>A | gnomAD v4 |
7 | g.73683300C>G | CA367827959 | BUD23,DNAJC30 | c.124G>C (p.Asp42His) n.276C>G | |
7 | g.73683300C>T | CA367827962 | BUD23,DNAJC30 | c.124G>A (p.Asp42Asn) n.276C>T | |
7 | g.73683301G>A | CA4289999 | BUD23,DNAJC30 | c.123C>T (p.Gly41=) n.277G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683301G>C | CA456052913 | BUD23,DNAJC30 | c.123C>G (p.Gly41=) n.277G>C | |
7 | g.73683301G= | CA1717166418 | BUD23,DNAJC30 | c.123C= (p.Gly41=) n.277G= | |
7 | g.73683301G>T | CA456052912 | BUD23,DNAJC30 | c.123C>A (p.Gly41=) n.277G>T | |
7 | g.73683302C>A | CA367827967 | BUD23,DNAJC30 | c.122G>T (p.Gly41Val) n.278C>A | |
7 | g.73683302C>G | CA367827966 | BUD23,DNAJC30 | c.122G>C (p.Gly41Ala) n.278C>G | |
7 | g.73683302C>T | CA367827965 | BUD23,DNAJC30 | c.122G>A (p.Gly41Asp) n.278C>T | |
7 | g.73683303C>A | CA367827968 | BUD23,DNAJC30 | c.121G>T (p.Gly41Cys) n.279C>A | |
7 | g.73683303C= | CA1717166419 | BUD23,DNAJC30 | c.121G= (p.Gly41=) n.279C= | |
7 | g.73683303C>G | CA367827970 | BUD23,DNAJC30 | c.121G>C (p.Gly41Arg) n.279C>G | |
7 | g.73683303C>T | CA4290000 | BUD23,DNAJC30 | c.121G>A (p.Gly41Ser) n.279C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683304C>A | CA367827974 | BUD23,DNAJC30 | c.120G>T (p.Gln40His) n.280C>A | |
7 | g.73683304C= | CA1717166420 | BUD23,DNAJC30 | c.120G= (p.Gln40=) n.280C= | |
7 | g.73683304C>G | CA367827976 | BUD23,DNAJC30 | c.120G>C (p.Gln40His) n.280C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683304C>T | CA4290001 | BUD23,DNAJC30 | c.120G>A (p.Gln40=) n.280C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683305T>A | CA367827980 | BUD23,DNAJC30 | c.119A>T (p.Gln40Leu) n.281T>A | |
7 | g.73683305T>C | CA367827982 | BUD23,DNAJC30 | c.119A>G (p.Gln40Arg) n.281T>C | |
7 | g.73683305T>G | CA367827985 | BUD23,DNAJC30 | c.119A>C (p.Gln40Pro) n.281T>G | |
7 | g.73683306G>A | CA367827989 | BUD23,DNAJC30 | c.118C>T (p.Gln40Ter) n.282G>A | |
7 | g.73683306G>C | CA367827990 | BUD23,DNAJC30 | c.118C>G (p.Gln40Glu) n.282G>C | gnomAD v4 |
7 | g.73683306G>T | CA367827993 | BUD23,DNAJC30 | c.118C>A (p.Gln40Lys) n.282G>T | |
7 | g.73683307G>A | CA456052921 | BUD23,DNAJC30 | c.117C>T (p.Ser39=) n.283G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683307G>C | CA456052919 | BUD23,DNAJC30 | c.117C>G (p.Ser39=) n.283G>C | |
7 | g.73683307G= | CA1717166421 | BUD23,DNAJC30 | c.117C= (p.Ser39=) n.283G= | |
7 | g.73683307G>T | CA456052920 | BUD23,DNAJC30 | c.117C>A (p.Ser39=) n.283G>T | |
7 | g.73683308G>A | CA367828002 | BUD23,DNAJC30 | c.116C>T (p.Ser39Phe) n.284G>A | |
7 | g.73683308G>C | CA367827999 | BUD23,DNAJC30 | c.116C>G (p.Ser39Cys) n.284G>C | |
7 | g.73683308G>T | CA367827997 | BUD23,DNAJC30 | c.116C>A (p.Ser39Tyr) n.284G>T | |
7 | g.73683309A>C | CA367828006 | BUD23,DNAJC30 | c.115T>G (p.Ser39Ala) n.285A>C | |
7 | g.73683309A>G | CA367828007 | BUD23,DNAJC30 | c.115T>C (p.Ser39Pro) n.285A>G | |
7 | g.73683309A>T | CA367828011 | BUD23,DNAJC30 | c.115T>A (p.Ser39Thr) n.285A>T | |
7 | g.73683310A= | CA1717166422 | BUD23,DNAJC30 | c.114T= (p.Tyr38=) n.286A= | |
7 | g.73683310A>C | CA367828014 | BUD23,DNAJC30 | c.114T>G (p.Tyr38Ter) n.286A>C | |
7 | g.73683310A>G | CA4290002 | BUD23,DNAJC30 | c.114T>C (p.Tyr38=) n.286A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683310A>T | CA367828020 | BUD23,DNAJC30 | c.114T>A (p.Tyr38Ter) n.286A>T | |
7 | g.73683311T>A | CA367828024 | BUD23,DNAJC30 | c.113A>T (p.Tyr38Phe) n.287T>A | |
7 | g.73683311T>C | CA367828027 | BUD23,DNAJC30 | c.113A>G (p.Tyr38Cys) n.287T>C | |
7 | g.73683311T>G | CA4290003 | BUD23,DNAJC30 | c.113A>C (p.Tyr38Ser) n.287T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683311T= | CA1717166423 | BUD23,DNAJC30 | c.113A= (p.Tyr38=) n.287T= | |
7 | g.73683312A= | CA1717166424 | BUD23,DNAJC30 | c.112T= (p.Tyr38=) n.288A= | |
7 | g.73683312A>C | CA367828031 | BUD23,DNAJC30 | c.112T>G (p.Tyr38Asp) n.288A>C | |
7 | g.73683312A>G | CA367828033 | BUD23,DNAJC30 | c.112T>C (p.Tyr38His) n.288A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683312A>T | CA367828035 | BUD23,DNAJC30 | c.112T>A (p.Tyr38Asn) n.288A>T | |
7 | g.73683313A= | CA1717166425 | BUD23,DNAJC30 | c.111T= (p.Thr37=) n.289A= | |
7 | g.73683313A>C | CA456052931 | BUD23,DNAJC30 | c.111T>G (p.Thr37=) n.289A>C | gnomAD v4 |
7 | g.73683313A>G | CA4290004 | BUD23,DNAJC30 | c.111T>C (p.Thr37=) n.289A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683313A>T | CA456052929 | BUD23,DNAJC30 | c.111T>A (p.Thr37=) n.289A>T | |
7 | g.73683314G>A | CA367828040 | BUD23,DNAJC30 | c.110C>T (p.Thr37Ile) n.290G>A | gnomAD v4 |
7 | g.73683314G>C | CA367828043 | BUD23,DNAJC30 | c.110C>G (p.Thr37Ser) n.290G>C | gnomAD v4 |
7 | g.73683314G>T | CA367828038 | BUD23,DNAJC30 | c.110C>A (p.Thr37Asn) n.290G>T | gnomAD v4 |
7 | g.73683315T>A | CA367828048 | BUD23,DNAJC30 | c.109A>T (p.Thr37Ser) n.291T>A | |
7 | g.73683315T>C | CA367828046 | BUD23,DNAJC30 | c.109A>G (p.Thr37Ala) n.291T>C | |
7 | g.73683315T>G | CA367828050 | BUD23,DNAJC30 | c.109A>C (p.Thr37Pro) n.291T>G | |
7 | g.73683316C>A | CA367828053 | BUD23,DNAJC30 | c.108G>T (p.Arg36Ser) n.292C>A | |
7 | g.73683316C= | CA1717166426 | BUD23,DNAJC30 | c.108G= (p.Arg36=) n.292C= | |
7 | g.73683316C>G | CA367828055 | BUD23,DNAJC30 | c.108G>C (p.Arg36Ser) n.292C>G | gnomAD v4 |
7 | g.73683316C>T | CA160072706 | BUD23,DNAJC30 | c.108G>A (p.Arg36=) n.292C>T | dbSNP gnomAD v4 |
7 | g.73683317C>A | CA367828058 | BUD23,DNAJC30 | c.107G>T (p.Arg36Met) n.293C>A | |
7 | g.73683317C>G | CA367828061 | BUD23,DNAJC30 | c.107G>C (p.Arg36Thr) n.293C>G | |
7 | g.73683317C>T | CA367828063 | BUD23,DNAJC30 | c.107G>A (p.Arg36Lys) n.293C>T | COSMIC |
7 | g.73683318T>A | CA367828066 | BUD23,DNAJC30 | c.106A>T (p.Arg36Trp) n.294T>A | |
7 | g.73683318T>C | CA367828069 | BUD23,DNAJC30 | c.106A>G (p.Arg36Gly) n.294T>C | |
7 | g.73683318T>G | CA456052935 | BUD23,DNAJC30 | c.106A>C (p.Arg36=) n.294T>G | |
7 | g.73683319C>A | CA456052941 | BUD23,DNAJC30 | c.105G>T (p.Ala35=) n.295C>A | |
7 | g.73683319C>G | CA456052942 | BUD23,DNAJC30 | c.105G>C (p.Ala35=) n.295C>G | |
7 | g.73683319C>T | CA456052939 | BUD23,DNAJC30 | c.105G>A (p.Ala35=) n.295C>T | |
7 | g.73683320G>A | CA367828071 | BUD23,DNAJC30 | c.104C>T (p.Ala35Val) n.296G>A | gnomAD v4 |
7 | g.73683320G>C | CA367828075 | BUD23,DNAJC30 | c.104C>G (p.Ala35Gly) n.296G>C | |
7 | g.73683320G>T | CA367828078 | BUD23,DNAJC30 | c.104C>A (p.Ala35Glu) n.296G>T | |
7 | g.73683321C>A | CA4290005 | BUD23,DNAJC30 | c.103G>T (p.Ala35Ser) n.297C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683321C= | CA1717166427 | BUD23,DNAJC30 | c.103G= (p.Ala35=) n.297C= | |
7 | g.73683321C>G | CA367828085 | BUD23,DNAJC30 | c.103G>C (p.Ala35Pro) n.297C>G | |
7 | g.73683321C>T | CA367828087 | BUD23,DNAJC30 | c.103G>A (p.Ala35Thr) n.297C>T | |
7 | g.73683322T>A | CA456052949 | BUD23,DNAJC30 | c.102A>T (p.Gly34=) n.298T>A | gnomAD v4 COSMIC |
7 | g.73683322T>C | CA456052950 | BUD23,DNAJC30 | c.102A>G (p.Gly34=) n.298T>C | |
7 | g.73683322T>G | CA456052948 | BUD23,DNAJC30 | c.102A>C (p.Gly34=) n.298T>G | |
7 | g.73683323C>A | CA367828094 | BUD23,DNAJC30 | c.101G>T (p.Gly34Val) n.299C>A | |
7 | g.73683323C>G | CA367828092 | BUD23,DNAJC30 | c.101G>C (p.Gly34Ala) n.299C>G | |
7 | g.73683323C>T | CA367828090 | BUD23,DNAJC30 | c.101G>A (p.Gly34Glu) n.299C>T | |
7 | g.73683324C>A | CA367828097 | BUD23,DNAJC30 | c.100G>T (p.Gly34Ter) n.300C>A | |
7 | g.73683324C= | CA1717166428 | BUD23,DNAJC30 | c.100G= (p.Gly34=) n.300C= | |
7 | g.73683324C>G | CA367828098 | BUD23,DNAJC30 | c.100G>C (p.Gly34Arg) n.300C>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683324C>T | CA4290006 | BUD23,DNAJC30 | c.100G>A (p.Gly34Arg) n.300C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683325T>A | CA456052954 | BUD23,DNAJC30 | c.99A>T (p.Leu33=) n.301T>A | |
7 | g.73683325T>C | CA456052953 | BUD23,DNAJC30 | c.99A>G (p.Leu33=) n.301T>C | |
7 | g.73683325T>G | CA456052952 | BUD23,DNAJC30 | c.99A>C (p.Leu33=) n.301T>G | |
7 | g.73683326A= | CA1717166429 | BUD23,DNAJC30 | c.98T= (p.Leu33=) n.302A= | |
7 | g.73683326A>C | CA367828104 | BUD23,DNAJC30 | c.98T>G (p.Leu33Arg) n.302A>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683326A>G | CA367828106 | BUD23,DNAJC30 | c.98T>C (p.Leu33Pro) n.302A>G | |
7 | g.73683326A>T | CA367828108 | BUD23,DNAJC30 | c.98T>A (p.Leu33Gln) n.302A>T | |
7 | g.73683327G>A | CA456052960 | BUD23,DNAJC30 | c.97C>T (p.Leu33=) n.303G>A | |
7 | g.73683327G>C | CA367828112 | BUD23,DNAJC30 | c.97C>G (p.Leu33Val) n.303G>C | |
7 | g.73683327G>T | CA367828114 | BUD23,DNAJC30 | c.97C>A (p.Leu33Ile) n.303G>T | |
7 | g.73683328G>A | CA456052970 | BUD23,DNAJC30 | c.96C>T (p.Gly32=) n.304G>A | |
7 | g.73683328G>C | CA456052966 | BUD23,DNAJC30 | c.96C>G (p.Gly32=) n.304G>C | |
7 | g.73683328G>T | CA456052968 | BUD23,DNAJC30 | c.96C>A (p.Gly32=) n.304G>T | |
7 | g.73683329C>A | CA367828117 | BUD23,DNAJC30 | c.95G>T (p.Gly32Val) n.305C>A | |
7 | g.73683329C= | CA1717166430 | BUD23,DNAJC30 | c.95G= (p.Gly32=) n.305C= | |
7 | g.73683329C>G | CA367828120 | BUD23,DNAJC30 | c.95G>C (p.Gly32Ala) n.305C>G | |
7 | g.73683329C>T | CA367828123 | BUD23,DNAJC30 | c.95G>A (p.Gly32Asp) n.305C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683330C>A | CA4290007 | BUD23,DNAJC30 | c.94G>T (p.Gly32Cys) n.306C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683330C= | CA1717166431 | BUD23,DNAJC30 | c.94G= (p.Gly32=) n.306C= | |
7 | g.73683330C>G | CA367828127 | BUD23,DNAJC30 | c.94G>C (p.Gly32Arg) n.306C>G | gnomAD v4 |
7 | g.73683330C>T | CA367828129 | BUD23,DNAJC30 | c.94G>A (p.Gly32Ser) n.306C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683331C>A | CA456052978 | BUD23,DNAJC30 | c.93G>T (p.Leu31=) n.307C>A | |
7 | g.73683331C>G | CA456052976 | BUD23,DNAJC30 | c.93G>C (p.Leu31=) n.307C>G | |
7 | g.73683331C>T | CA456052973 | BUD23,DNAJC30 | c.93G>A (p.Leu31=) n.307C>T | |
7 | g.73683332A= | CA1717166432 | BUD23,DNAJC30 | c.92T= (p.Leu31=) n.308A= | |
7 | g.73683332A>C | CA367828132 | BUD23,DNAJC30 | c.92T>G (p.Leu31Arg) n.308A>C | dbSNP |
7 | g.73683332A>G | CA367828131 | BUD23,DNAJC30 | c.92T>C (p.Leu31Pro) n.308A>G | |
7 | g.73683332A>T | CA367828130 | BUD23,DNAJC30 | c.92T>A (p.Leu31Gln) n.308A>T | |
7 | g.73683333G>A | CA4290008 | BUD23,DNAJC30 | c.91C>T (p.Leu31=) n.309G>A | dbSNP ExAC gnomAD v2 |
7 | g.73683333G>C | CA4290009 | BUD23,DNAJC30 | c.91C>G (p.Leu31Val) n.309G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683333G= | CA1717166433 | BUD23,DNAJC30 | c.91C= (p.Leu31=) n.309G= | |
7 | g.73683333G>T | CA367828133 | BUD23,DNAJC30 | c.91C>A (p.Leu31Met) n.309G>T | |
7 | g.73683334G>A | CA160072724 | BUD23,DNAJC30 | c.90C>T (p.Ser30=) n.310G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.73683334G>C | CA367828138 | BUD23,DNAJC30 | c.90C>G (p.Ser30Arg) n.310G>C | |
7 | g.73683334G= | CA1717166434 | BUD23,DNAJC30 | c.90C= (p.Ser30=) n.310G= | |
7 | g.73683334G>T | CA367828140 | BUD23,DNAJC30 | c.90C>A (p.Ser30Arg) n.310G>T | gnomAD v4 |
7 | g.73683335C>A | CA367828143 | BUD23,DNAJC30 | c.89G>T (p.Ser30Ile) n.311C>A | |
7 | g.73683335C= | CA1717166435 | BUD23,DNAJC30 | c.89G= (p.Ser30=) n.311C= | |
7 | g.73683335C>G | CA367828145 | BUD23,DNAJC30 | c.89G>C (p.Ser30Thr) n.311C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683335C>T | CA4290010 | BUD23,DNAJC30 | c.89G>A (p.Ser30Asn) n.311C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683336T>A | CA367828151 | BUD23,DNAJC30 | c.88A>T (p.Ser30Cys) n.312T>A | |
7 | g.73683336T>C | CA367828153 | BUD23,DNAJC30 | c.88A>G (p.Ser30Gly) n.312T>C | |
7 | g.73683336T>G | CA367828154 | BUD23,DNAJC30 | c.88A>C (p.Ser30Arg) n.312T>G | |
7 | g.73683337G>A | CA4290011 | BUD23,DNAJC30 | c.87C>T (p.Pro29=) n.313G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683337G>C | CA456052984 | BUD23,DNAJC30 | c.87C>G (p.Pro29=) n.313G>C | gnomAD v4 |
7 | g.73683337G= | CA1717166436 | BUD23,DNAJC30 | c.87C= (p.Pro29=) n.313G= | |
7 | g.73683337G>T | CA456052985 | BUD23,DNAJC30 | c.87C>A (p.Pro29=) n.313G>T | gnomAD v4 |
7 | g.73683338G>A | CA367828163 | BUD23,DNAJC30 | c.86C>T (p.Pro29Leu) n.314G>A | |
7 | g.73683338G>C | CA367828159 | BUD23,DNAJC30 | c.86C>G (p.Pro29Arg) n.314G>C | |
7 | g.73683338G>T | CA367828161 | BUD23,DNAJC30 | c.86C>A (p.Pro29His) n.314G>T | |
7 | g.73683339G>A | CA367828167 | BUD23,DNAJC30 | c.85C>T (p.Pro29Ser) n.315G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683339G>C | CA367828168 | BUD23,DNAJC30 | c.85C>G (p.Pro29Ala) n.315G>C | |
7 | g.73683339G= | CA1717166437 | BUD23,DNAJC30 | c.85C= (p.Pro29=) n.315G= | |
7 | g.73683339G>T | CA367828172 | BUD23,DNAJC30 | c.85C>A (p.Pro29Thr) n.315G>T | |
7 | g.73683340T>A | CA456052991 | BUD23,DNAJC30 | c.84A>T (p.Ala28=) n.316T>A | |
7 | g.73683340T>C | CA456052994 | BUD23,DNAJC30 | c.84A>G (p.Ala28=) n.316T>C | COSMIC |
7 | g.73683340T>G | CA456052993 | BUD23,DNAJC30 | c.84A>C (p.Ala28=) n.316T>G | |
7 | g.73683341G>A | CA367828175 | BUD23,DNAJC30 | c.83C>T (p.Ala28Val) n.317G>A | |
7 | g.73683341G>C | CA367828178 | BUD23,DNAJC30 | c.83C>G (p.Ala28Gly) n.317G>C | |
7 | g.73683341G>T | CA367828180 | BUD23,DNAJC30 | c.83C>A (p.Ala28Glu) n.317G>T | |
7 | g.73683342C>A | CA4290012 | BUD23,DNAJC30 | c.82G>T (p.Ala28Ser) n.318C>A | dbSNP ExAC gnomAD v2 |
7 | g.73683342C= | CA1717166438 | BUD23,DNAJC30 | c.82G= (p.Ala28=) n.318C= | |
7 | g.73683342C>G | CA367828185 | BUD23,DNAJC30 | c.82G>C (p.Ala28Pro) n.318C>G | |
7 | g.73683342C>T | CA367828187 | BUD23,DNAJC30 | c.82G>A (p.Ala28Thr) n.318C>T | |
7 | g.73683343A>C | CA456052998 | BUD23,DNAJC30 | c.81T>G (p.Ser27=) n.319A>C | |
7 | g.73683343A>G | CA456052999 | BUD23,DNAJC30 | c.81T>C (p.Ser27=) n.319A>G | gnomAD v4 |
7 | g.73683343A>T | CA456053000 | BUD23,DNAJC30 | c.81T>A (p.Ser27=) n.319A>T | |
7 | g.73683344G>A | CA367828201 | BUD23,DNAJC30 | c.80C>T (p.Ser27Phe) n.320G>A | |
7 | g.73683344G>C | CA4290013 | BUD23,DNAJC30 | c.80C>G (p.Ser27Cys) n.320G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683344G= | CA1717166439 | BUD23,DNAJC30 | c.80C= (p.Ser27=) n.320G= | |
7 | g.73683344G>T | CA367828202 | BUD23,DNAJC30 | c.80C>A (p.Ser27Tyr) n.320G>T | |
7 | g.73683345A>C | CA367828205 | BUD23,DNAJC30 | c.79T>G (p.Ser27Ala) n.321A>C | |
7 | g.73683345A>G | CA367828210 | BUD23,DNAJC30 | c.79T>C (p.Ser27Pro) n.321A>G | gnomAD v4 |
7 | g.73683345A>T | CA367828206 | BUD23,DNAJC30 | c.79T>A (p.Ser27Thr) n.321A>T | |
7 | g.73683346A>C | CA367828214 | BUD23,DNAJC30 | c.78T>G (p.Asn26Lys) n.322A>C | |
7 | g.73683346A>G | CA456053008 | BUD23,DNAJC30 | c.78T>C (p.Asn26=) n.322A>G | |
7 | g.73683346A>T | CA367828217 | BUD23,DNAJC30 | c.78T>A (p.Asn26Lys) n.322A>T | |
7 | g.73683347T>A | CA367828220 | BUD23,DNAJC30 | c.77A>T (p.Asn26Ile) n.323T>A | |
7 | g.73683347T>C | CA367828224 | BUD23,DNAJC30 | c.77A>G (p.Asn26Ser) n.323T>C | |
7 | g.73683347T>G | CA367828228 | BUD23,DNAJC30 | c.77A>C (p.Asn26Thr) n.323T>G | |
7 | g.73683348T>A | CA367828232 | BUD23,DNAJC30 | c.76A>T (p.Asn26Tyr) n.324T>A | gnomAD v4 |
7 | g.73683348T>C | CA367828234 | BUD23,DNAJC30 | c.76A>G (p.Asn26Asp) n.324T>C | |
7 | g.73683348T>G | CA367828236 | BUD23,DNAJC30 | c.76A>C (p.Asn26His) n.324T>G | |
7 | g.73683349T>A | CA367828243 | BUD23,DNAJC30 | c.75A>T (p.Gln25His) n.325T>A | |
7 | g.73683349T>C | CA456053013 | BUD23,DNAJC30 | c.75A>G (p.Gln25=) n.325T>C | dbSNP gnomAD v4 |
7 | g.73683349T>G | CA367828245 | BUD23,DNAJC30 | c.75A>C (p.Gln25His) n.325T>G | |
7 | g.73683350T>A | CA367828247 | BUD23,DNAJC30 | c.74A>T (p.Gln25Leu) n.326T>A | |
7 | g.73683350T>C | CA367828250 | BUD23,DNAJC30 | c.74A>G (p.Gln25Arg) n.326T>C | |
7 | g.73683350T>G | CA367828252 | BUD23,DNAJC30 | c.74A>C (p.Gln25Pro) n.326T>G | |
7 | g.73683350_73683364delinsTGTGGAAAGCCACGG | CA1717166440 | BUD23,DNAJC30 | c.60_74delinsCCGTGGCTTTCCACA (p.Ala20=) n.326_340delinsTGTGGAAAGCCACGG | |
7 | g.73683351G>A | CA367828262 | BUD23,DNAJC30 | c.73C>T (p.Gln25Ter) n.327G>A | |
7 | g.73683351G>C | CA367828255 | BUD23,DNAJC30 | c.73C>G (p.Gln25Glu) n.327G>C | |
7 | g.73683351G>T | CA367828257 | BUD23,DNAJC30 | c.73C>A (p.Gln25Lys) n.327G>T | |
7 | g.73683352_73683365del | CA842010822 | BUD23,DNAJC30 | c.60_73del (p.Arg21LysfsTer27) n.328_341del | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683352T>A | CA456053019 | BUD23,DNAJC30 | c.72A>T (p.Pro24=) n.328T>A | |
7 | g.73683352T>C | CA456053018 | BUD23,DNAJC30 | c.72A>G (p.Pro24=) n.328T>C | |
7 | g.73683352T>G | CA456053020 | BUD23,DNAJC30 | c.72A>C (p.Pro24=) n.328T>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683352T= | CA1717166441 | BUD23,DNAJC30 | c.72A= (p.Pro24=) n.328T= | |
7 | g.73683353G>A | CA4290014 | BUD23,DNAJC30 | c.71C>T (p.Pro24Leu) n.329G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683353G>C | CA367828268 | BUD23,DNAJC30 | c.71C>G (p.Pro24Arg) n.329G>C | |
7 | g.73683353G= | CA1717166442 | BUD23,DNAJC30 | c.71C= (p.Pro24=) n.329G= | |
7 | g.73683353G>T | CA367828271 | BUD23,DNAJC30 | c.71C>A (p.Pro24Gln) n.329G>T | gnomAD v4 |
7 | g.73683354G>A | CA367828274 | BUD23,DNAJC30 | c.70C>T (p.Pro24Ser) n.330G>A | |
7 | g.73683354G>C | CA367828277 | BUD23,DNAJC30 | c.70C>G (p.Pro24Ala) n.330G>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683354G= | CA1717166443 | BUD23,DNAJC30 | c.70C= (p.Pro24=) n.330G= | |
7 | g.73683354G>T | CA367828279 | BUD23,DNAJC30 | c.70C>A (p.Pro24Thr) n.330G>T | |
7 | g.73683355A= | CA1717166444 | BUD23,DNAJC30 | c.69T= (p.Phe23=) n.331A= | |
7 | g.73683355A>C | CA367828282 | BUD23,DNAJC30 | c.69T>G (p.Phe23Leu) n.331A>C | |
7 | g.73683355A>G | CA456053025 | BUD23,DNAJC30 | c.69T>C (p.Phe23=) n.331A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683355A>T | CA367828285 | BUD23,DNAJC30 | c.69T>A (p.Phe23Leu) n.331A>T | |
7 | g.73683356A>C | CA367828289 | BUD23,DNAJC30 | c.68T>G (p.Phe23Cys) n.332A>C | |
7 | g.73683356A>G | CA367828291 | BUD23,DNAJC30 | c.68T>C (p.Phe23Ser) n.332A>G | |
7 | g.73683356A>T | CA367828294 | BUD23,DNAJC30 | c.68T>A (p.Phe23Tyr) n.332A>T | |
7 | g.73683357A= | CA1717166445 | BUD23,DNAJC30 | c.67T= (p.Phe23=) n.333A= | |
7 | g.73683357A>C | CA367828301 | BUD23,DNAJC30 | c.67T>G (p.Phe23Val) n.333A>C | |
7 | g.73683357A>G | CA367828303 | BUD23,DNAJC30 | c.67T>C (p.Phe23Leu) n.333A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683357A>T | CA367828297 | BUD23,DNAJC30 | c.67T>A (p.Phe23Ile) n.333A>T | |
7 | g.73683358G>A | CA456053029 | BUD23,DNAJC30 | c.66C>T (p.Gly22=) n.334G>A | gnomAD v4 |
7 | g.73683358G>C | CA456053032 | BUD23,DNAJC30 | c.66C>G (p.Gly22=) n.334G>C | gnomAD v4 |
7 | g.73683358G>T | CA456053030 | BUD23,DNAJC30 | c.66C>A (p.Gly22=) n.334G>T | |
7 | g.73683359C>A | CA367828305 | BUD23,DNAJC30 | c.65G>T (p.Gly22Val) n.335C>A | |
7 | g.73683359C>G | CA367828307 | BUD23,DNAJC30 | c.65G>C (p.Gly22Ala) n.335C>G | gnomAD v4 |
7 | g.73683359C>T | CA367828310 | BUD23,DNAJC30 | c.65G>A (p.Gly22Asp) n.335C>T | |
7 | g.73683360C>A | CA367828311 | BUD23,DNAJC30 | c.64G>T (p.Gly22Cys) n.336C>A | |
7 | g.73683360C>G | CA367828314 | BUD23,DNAJC30 | c.64G>C (p.Gly22Arg) n.336C>G | |
7 | g.73683360C>T | CA367828317 | BUD23,DNAJC30 | c.64G>A (p.Gly22Ser) n.336C>T | gnomAD v4 |
7 | g.73683361A>C | CA456053037 | BUD23,DNAJC30 | c.63T>G (p.Arg21=) n.337A>C | |
7 | g.73683361A>G | CA456053035 | BUD23,DNAJC30 | c.63T>C (p.Arg21=) n.337A>G | |
7 | g.73683361A>T | CA456053036 | BUD23,DNAJC30 | c.63T>A (p.Arg21=) n.337A>T | |
7 | g.73683362C>A | CA367828320 | BUD23,DNAJC30 | c.62G>T (p.Arg21Leu) n.338C>A | gnomAD v4 |
7 | g.73683362C>G | CA367828322 | BUD23,DNAJC30 | c.62G>C (p.Arg21Pro) n.338C>G | |
7 | g.73683362C>T | CA367828324 | BUD23,DNAJC30 | c.62G>A (p.Arg21His) n.338C>T | gnomAD v4 |
7 | g.73683363G>A | CA4290015 | BUD23,DNAJC30 | c.61C>T (p.Arg21Cys) n.339G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683363G>C | CA367828329 | BUD23,DNAJC30 | c.61C>G (p.Arg21Gly) n.339G>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683363G= | CA1717166446 | BUD23,DNAJC30 | c.61C= (p.Arg21=) n.339G= | |
7 | g.73683363G>T | CA367828332 | BUD23,DNAJC30 | c.61C>A (p.Arg21Ser) n.339G>T | gnomAD v4 |
7 | g.73683365del | CA2683240504 | BUD23,DNAJC30 | c.61del (p.Arg21ValfsTer13) n.341del | gnomAD v4 |
7 | g.73683364G>A | CA456053041 | BUD23,DNAJC30 | c.60C>T (p.Ala20=) n.340G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683364G>C | CA456053039 | BUD23,DNAJC30 | c.60C>G (p.Ala20=) n.340G>C | gnomAD v4 |
7 | g.73683364G= | CA1717166447 | BUD23,DNAJC30 | c.60C= (p.Ala20=) n.340G= | |
7 | g.73683364G>T | CA456053042 | BUD23,DNAJC30 | c.60C>A (p.Ala20=) n.340G>T |