Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56975033delCA2732294037CETPc.931-68del (n.931-68del)
c.751-68del (n.751-68del)
c.736-68del (n.736-68del)
dbSNP
16g.56975032C>ACA2633389030CETPc.931-69C>A (n.931-69C>A)
c.751-69C>A (n.751-69C>A)
c.736-69C>A (n.736-69C>A)
gnomAD v4
16g.56975032C>TCA2633389031CETPc.931-69C>T (n.931-69C>T)
c.751-69C>T (n.751-69C>T)
c.736-69C>T (n.736-69C>T)
gnomAD v4
16g.56975036C>ACA977673190CETPc.931-65C>A (n.931-65C>A)
c.751-65C>A (n.751-65C>A)
c.736-65C>A (n.736-65C>A)
dbSNP gnomAD v3 gnomAD v4
16g.56975036C=CA2224400055CETPc.931-65C= (n.931-65C=)
c.751-65C= (n.751-65C=)
c.736-65C= (n.736-65C=)
16g.56975036C>TCA281525222CETPc.931-65C>T (n.931-65C>T)
c.751-65C>T (n.751-65C>T)
c.736-65C>T (n.736-65C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56975037G>ACA281525226CETPc.931-64G>A (n.931-64G>A)
c.751-64G>A (n.751-64G>A)
c.736-64G>A (n.736-64G>A)
dbSNP gnomAD v3 gnomAD v4
16g.56975037G>CCA2633389038CETPc.931-64G>C (n.931-64G>C)
c.751-64G>C (n.751-64G>C)
c.736-64G>C (n.736-64G>C)
gnomAD v4
16g.56975037G=CA2224400056CETPc.931-64G= (n.931-64G=)
c.751-64G= (n.751-64G=)
c.736-64G= (n.736-64G=)
16g.56975037G>TCA2633389040CETPc.931-64G>T (n.931-64G>T)
c.751-64G>T (n.751-64G>T)
c.736-64G>T (n.736-64G>T)
gnomAD v4
16g.56975039A>GCA2633389043CETPc.931-62A>G (n.931-62A>G)
c.751-62A>G (n.751-62A>G)
c.736-62A>G (n.736-62A>G)
gnomAD v4
16g.56975040G>ACA2576002903CETPc.931-61G>A (n.931-61G>A)
c.751-61G>A (n.751-61G>A)
c.736-61G>A (n.736-61G>A)
gnomAD v4
16g.56975040G>CCA2576002904CETPc.931-61G>C (n.931-61G>C)
c.751-61G>C (n.751-61G>C)
c.736-61G>C (n.736-61G>C)
gnomAD v4
16g.56975043T>CCA2224400058CETPc.931-58T>C (n.931-58T>C)
c.751-58T>C (n.751-58T>C)
c.736-58T>C (n.736-58T>C)
dbSNP
16g.56975043T=CA2224400057CETPc.931-58T= (n.931-58T=)
c.751-58T= (n.751-58T=)
c.736-58T= (n.736-58T=)
16g.56975048C=CA2224400059CETPc.931-53C= (n.931-53C=)
c.751-53C= (n.751-53C=)
c.736-53C= (n.736-53C=)
16g.56975048C>TCA2224400060CETPc.931-53C>T (n.931-53C>T)
c.751-53C>T (n.751-53C>T)
c.736-53C>T (n.736-53C>T)
dbSNP
16g.56975049T>CCA2633389048CETPc.931-52T>C (n.931-52T>C)
c.751-52T>C (n.751-52T>C)
c.736-52T>C (n.736-52T>C)
gnomAD v4
16g.56975050G>ACA2633389051CETPc.931-51G>A (n.931-51G>A)
c.751-51G>A (n.751-51G>A)
c.736-51G>A (n.736-51G>A)
gnomAD v4
16g.56975053G>ACA2633389056CETPc.931-48G>A (n.931-48G>A)
c.751-48G>A (n.751-48G>A)
c.736-48G>A (n.736-48G>A)
gnomAD v4
16g.56975053G=CA2224400061CETPc.931-48G= (n.931-48G=)
c.751-48G= (n.751-48G=)
c.736-48G= (n.736-48G=)
16g.56975053G>TCA722018100CETPc.931-48G>T (n.931-48G>T)
c.751-48G>T (n.751-48G>T)
c.736-48G>T (n.736-48G>T)
dbSNP gnomAD v4
16g.56975055G>ACA2633389060CETPc.931-46G>A (n.931-46G>A)
c.751-46G>A (n.751-46G>A)
c.736-46G>A (n.736-46G>A)
gnomAD v4
16g.56975055G>TCA2633389061CETPc.931-46G>T (n.931-46G>T)
c.751-46G>T (n.751-46G>T)
c.736-46G>T (n.736-46G>T)
gnomAD v4
16g.56975056T>ACA2224400063CETPc.931-45T>A (n.931-45T>A)
c.751-45T>A (n.751-45T>A)
c.736-45T>A (n.736-45T>A)
dbSNP
16g.56975056T=CA2224400062CETPc.931-45T= (n.931-45T=)
c.751-45T= (n.751-45T=)
c.736-45T= (n.736-45T=)
16g.56975057G>ACA2633389063CETPc.931-44G>A (n.931-44G>A)
c.751-44G>A (n.751-44G>A)
c.736-44G>A (n.736-44G>A)
gnomAD v4
16g.56975058delCA2576002905CETPc.931-43del (n.931-43del)
c.751-43del (n.751-43del)
c.736-43del (n.736-43del)
16g.56975058G>ACA2633389066CETPc.931-43G>A (n.931-43G>A)
c.751-43G>A (n.751-43G>A)
c.736-43G>A (n.736-43G>A)
gnomAD v4
16g.56975058G>TCA2576002906CETPc.931-43G>T (n.931-43G>T)
c.751-43G>T (n.751-43G>T)
c.736-43G>T (n.736-43G>T)
16g.56975059A=CA2224400064CETPc.931-42A= (n.931-42A=)
c.751-42A= (n.751-42A=)
c.736-42A= (n.736-42A=)
16g.56975059A>GCA622342430CETPc.931-42A>G (n.931-42A>G)
c.751-42A>G (n.751-42A>G)
c.736-42A>G (n.736-42A>G)
dbSNP gnomAD v2 gnomAD v4
16g.56975060C>ACA8071154CETPc.931-41C>A (n.931-41C>A)
c.751-41C>A (n.751-41C>A)
c.736-41C>A (n.736-41C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56975060C=CA2224400065CETPc.931-41C= (n.931-41C=)
c.751-41C= (n.751-41C=)
c.736-41C= (n.736-41C=)
16g.56975060C>GCA722018104CETPc.931-41C>G (n.931-41C>G)
c.751-41C>G (n.751-41C>G)
c.736-41C>G (n.736-41C>G)
dbSNP gnomAD v4
16g.56975060C>TCA977673195CETPc.931-41C>T (n.931-41C>T)
c.751-41C>T (n.751-41C>T)
c.736-41C>T (n.736-41C>T)
dbSNP gnomAD v3 gnomAD v4
16g.56975063T>CCA722018107CETPc.931-38T>C (n.931-38T>C)
c.751-38T>C (n.751-38T>C)
c.736-38T>C (n.736-38T>C)
dbSNP gnomAD v3 gnomAD v4
16g.56975063T=CA2224400066CETPc.931-38T= (n.931-38T=)
c.751-38T= (n.751-38T=)
c.736-38T= (n.736-38T=)
16g.56975064A>GCA2633389082CETPc.931-37A>G (n.931-37A>G)
c.751-37A>G (n.751-37A>G)
c.736-37A>G (n.736-37A>G)
gnomAD v4
16g.56975065C=CA2224400067CETPc.931-36C= (n.931-36C=)
c.751-36C= (n.751-36C=)
c.736-36C= (n.736-36C=)
16g.56975065C>GCA2633389089CETPc.931-36C>G (n.931-36C>G)
c.751-36C>G (n.751-36C>G)
c.736-36C>G (n.736-36C>G)
gnomAD v4
16g.56975065C>TCA8071155CETPc.931-36C>T (n.931-36C>T)
c.751-36C>T (n.751-36C>T)
c.736-36C>T (n.736-36C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56975066T>GCA2224400069CETPc.931-35T>G (n.931-35T>G)
c.751-35T>G (n.751-35T>G)
c.736-35T>G (n.736-35T>G)
dbSNP gnomAD v4
16g.56975066T=CA2224400068CETPc.931-35T= (n.931-35T=)
c.751-35T= (n.751-35T=)
c.736-35T= (n.736-35T=)
16g.56975067C>ACA2633389096CETPc.931-34C>A (n.931-34C>A)
c.751-34C>A (n.751-34C>A)
c.736-34C>A (n.736-34C>A)
gnomAD v4
16g.56975067C=CA2224400070CETPc.931-34C= (n.931-34C=)
c.751-34C= (n.751-34C=)
c.736-34C= (n.736-34C=)
16g.56975067C>TCA8071156CETPc.931-34C>T (n.931-34C>T)
c.751-34C>T (n.751-34C>T)
c.736-34C>T (n.736-34C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56975073_56975076delCA2633389094CETPc.931-28_931-25del (n.931-28_931-25del)
c.751-28_751-25del (n.751-28_751-25del)
c.736-28_736-25del (n.736-28_736-25del)
gnomAD v4
16g.56975068C=CA2224400071CETPc.931-33C= (n.931-33C=)
c.751-33C= (n.751-33C=)
c.736-33C= (n.736-33C=)
16g.56975068C>TCA722018113CETPc.931-33C>T (n.931-33C>T)
c.751-33C>T (n.751-33C>T)
c.736-33C>T (n.736-33C>T)
dbSNP gnomAD v3 gnomAD v4
16g.56975070C>TCA2576002908CETPc.931-31C>T (n.931-31C>T)
c.751-31C>T (n.751-31C>T)
c.736-31C>T (n.736-31C>T)
16g.56975072delCA2576002907CETPc.931-29del (n.931-29del)
c.751-29del (n.751-29del)
c.736-29del (n.736-29del)
16g.56975071C>ACA2558232056CETPc.931-30C>A (n.931-30C>A)
c.751-30C>A (n.751-30C>A)
c.736-30C>A (n.736-30C>A)
16g.56975072C>ACA8071157CETPc.931-29C>A (n.931-29C>A)
c.751-29C>A (n.751-29C>A)
c.736-29C>A (n.736-29C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56975072C=CA2224400072CETPc.931-29C= (n.931-29C=)
c.751-29C= (n.751-29C=)
c.736-29C= (n.736-29C=)
16g.56975072C>TCA977673203CETPc.931-29C>T (n.931-29C>T)
c.751-29C>T (n.751-29C>T)
c.736-29C>T (n.736-29C>T)
dbSNP gnomAD v3 gnomAD v4
16g.56975073A=CA2224400073CETPc.931-28A= (n.931-28A=)
c.751-28A= (n.751-28A=)
c.736-28A= (n.736-28A=)
16g.56975073A>GCA8071158CETPc.931-28A>G (n.931-28A>G)
c.751-28A>G (n.751-28A>G)
c.736-28A>G (n.736-28A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56975073_56975074delinsACCA2224400074CETPc.931-28_931-27delinsAC (n.931-28_931-27delinsAC)
c.751-28_751-27delinsAC (n.751-28_751-27delinsAC)
c.736-28_736-27delinsAC (n.736-28_736-27delinsAC)
16g.56975074C>GCA2633389102CETPc.931-27C>G (n.931-27C>G)
c.751-27C>G (n.751-27C>G)
c.736-27C>G (n.736-27C>G)
gnomAD v4
16g.56975076delCA8071159CETPc.931-25del (n.931-25del)
c.751-25del (n.751-25del)
c.736-25del (n.736-25del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56975076C>ACA2576002909CETPc.931-25C>A (n.931-25C>A)
c.751-25C>A (n.751-25C>A)
c.736-25C>A (n.736-25C>A)
gnomAD v4
16g.56975077T>CCA2576002910CETPc.931-24T>C (n.931-24T>C)
c.751-24T>C (n.751-24T>C)
c.736-24T>C (n.736-24T>C)
16g.56975079C>TCA2807162146CETPc.931-22C>T (n.931-22C>T)
c.751-22C>T (n.751-22C>T)
c.736-22C>T (n.736-22C>T)
16g.56975081A=CA2224400075CETPc.931-20A= (n.931-20A=)
c.751-20A= (n.751-20A=)
c.736-20A= (n.736-20A=)
16g.56975081A>CCA722018123CETPc.931-20A>C (n.931-20A>C)
c.751-20A>C (n.751-20A>C)
c.736-20A>C (n.736-20A>C)
dbSNP gnomAD v3 gnomAD v4
16g.56975081A>GCA2633389107CETPc.931-20A>G (n.931-20A>G)
c.751-20A>G (n.751-20A>G)
c.736-20A>G (n.736-20A>G)
gnomAD v4
16g.56975082C>ACA8071160CETPc.931-19C>A (n.931-19C>A)
c.751-19C>A (n.751-19C>A)
c.736-19C>A (n.736-19C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56975082C=CA2224400076CETPc.931-19C= (n.931-19C=)
c.751-19C= (n.751-19C=)
c.736-19C= (n.736-19C=)
16g.56975082C>TCA2633389110CETPc.931-19C>T (n.931-19C>T)
c.751-19C>T (n.751-19C>T)
c.736-19C>T (n.736-19C>T)
gnomAD v4
16g.56975083T>GCA8071161CETPc.931-18T>G (n.931-18T>G)
c.751-18T>G (n.751-18T>G)
c.736-18T>G (n.736-18T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56975083T=CA2224400077CETPc.931-18T= (n.931-18T=)
c.751-18T= (n.751-18T=)
c.736-18T= (n.736-18T=)
16g.56975085C>TCA2807162147CETPc.931-16C>T (n.931-16C>T)
c.751-16C>T (n.751-16C>T)
c.736-16C>T (n.736-16C>T)
16g.56975086C>TCA2633389114CETPc.931-15C>T (n.931-15C>T)
c.751-15C>T (n.751-15C>T)
c.736-15C>T (n.736-15C>T)
gnomAD v4
16g.56975087T>ACA2633389115CETPc.931-14T>A (n.931-14T>A)
c.751-14T>A (n.751-14T>A)
c.736-14T>A (n.736-14T>A)
gnomAD v4
16g.56975088C>ACA2633389116CETPc.931-13C>A (n.931-13C>A)
c.751-13C>A (n.751-13C>A)
c.736-13C>A (n.736-13C>A)
gnomAD v4
16g.56975089A=CA2224400078CETPc.931-12A= (n.931-12A=)
c.751-12A= (n.751-12A=)
c.736-12A= (n.736-12A=)
16g.56975089A>GCA722018128CETPc.931-12A>G (n.931-12A>G)
c.751-12A>G (n.751-12A>G)
c.736-12A>G (n.736-12A>G)
dbSNP gnomAD v3 gnomAD v4
16g.56975089A>TCA495620032CETPc.931-12A>T (n.931-12A>T)
c.751-12A>T (n.751-12A>T)
c.736-12A>T (n.736-12A>T)
16g.56975092T>CCA722018131CETPc.931-9T>C (n.931-9T>C)
c.751-9T>C (n.751-9T>C)
c.736-9T>C (n.736-9T>C)
ClinVar dbSNP gnomAD v4
16g.56975092T=CA2224400079CETPc.931-9T= (n.931-9T=)
c.751-9T= (n.751-9T=)
c.736-9T= (n.736-9T=)
16g.56975093_56975094delinsCTCA2224400080CETPc.931-8_931-7delinsCT (n.931-8_931-7delinsCT)
c.751-8_751-7delinsCT (n.751-8_751-7delinsCT)
c.736-8_736-7delinsCT (n.736-8_736-7delinsCT)
16g.56975097delCA722018132CETPc.931-4del (n.931-4del)
c.751-4del (n.751-4del)
c.736-4del (n.736-4del)
dbSNP gnomAD v3 gnomAD v4
16g.56975096T>CCA622342447CETPc.931-5T>C (n.931-5T>C)
c.751-5T>C (n.751-5T>C)
c.736-5T>C (n.736-5T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56975096T=CA2224400081CETPc.931-5T= (n.931-5T=)
c.751-5T= (n.751-5T=)
c.736-5T= (n.736-5T=)
16g.56975098C>TCA2633389118CETPc.931-3C>T (n.931-3C>T)
c.751-3C>T (n.751-3C>T)
c.736-3C>T (n.736-3C>T)
gnomAD v4
16g.56975099A=CA2224400082CETPc.931-2A= (n.931-2A=)
c.751-2A= (n.751-2A=)
c.736-2A= (n.736-2A=)
16g.56975099A>CCA396004069CETPc.931-2A>C (n.931-2A>C)
c.751-2A>C (n.751-2A>C)
c.736-2A>C (n.736-2A>C)
16g.56975099A>GCA396004070CETPc.931-2A>G (n.931-2A>G)
c.751-2A>G (n.751-2A>G)
c.736-2A>G (n.736-2A>G)
dbSNP gnomAD v2 gnomAD v4
16g.56975099A>TCA396004071CETPc.931-2A>T (n.931-2A>T)
c.751-2A>T (n.751-2A>T)
c.736-2A>T (n.736-2A>T)
16g.56975100G>ACA8071162CETPc.931-1G>A (n.931-1G>A)
c.751-1G>A (n.751-1G>A)
c.736-1G>A (n.736-1G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56975100G>CCA396004072CETPc.931-1G>C (n.931-1G>C)
c.751-1G>C (n.751-1G>C)
c.736-1G>C (n.736-1G>C)
16g.56975100G=CA2224400083CETPc.931-1G= (n.931-1G=)
c.751-1G= (n.751-1G=)
c.736-1G= (n.736-1G=)
16g.56975100G>TCA396004073CETPc.931-1G>T (n.931-1G>T)
c.751-1G>T (n.751-1G>T)
c.736-1G>T (n.736-1G>T)
16g.56975101G>ACA396004076CETPc.931G>A (p.Ala311Thr)
c.751G>A (p.Ala251Thr)
c.736G>A (p.Ala246Thr)
dbSNP gnomAD v4
16g.56975101G>CCA396004075CETPc.931G>C (p.Ala311Pro)
c.751G>C (p.Ala251Pro)
c.736G>C (p.Ala246Pro)
16g.56975101G=CA2224400084CETPc.931G= (p.Ala311=)
c.751G= (p.Ala251=)
c.736G= (p.Ala246=)
16g.56975101G>TCA396004074CETPc.931G>T (p.Ala311Ser)
c.751G>T (p.Ala251Ser)
c.736G>T (p.Ala246Ser)
16g.56975102C>ACA396004077CETPc.932C>A (p.Ala311Glu)
c.752C>A (p.Ala251Glu)
c.737C>A (p.Ala246Glu)
16g.56975102C=CA2224400085CETPc.932C= (p.Ala311=)
c.752C= (p.Ala251=)
c.737C= (p.Ala246=)
16g.56975102C>GCA396004078CETPc.932C>G (p.Ala311Gly)
c.752C>G (p.Ala251Gly)
c.737C>G (p.Ala246Gly)
16g.56975102C>TCA281525353CETPc.932C>T (p.Ala311Val)
c.752C>T (p.Ala251Val)
c.737C>T (p.Ala246Val)
dbSNP gnomAD v4 COSMIC
16g.56975103A>CCA495620037CETPc.933A>C (p.Ala311=)
c.753A>C (p.Ala251=)
c.738A>C (p.Ala246=)
16g.56975103A>GCA495620039CETPc.933A>G (p.Ala311=)
c.753A>G (p.Ala251=)
c.738A>G (p.Ala246=)
gnomAD v4
16g.56975103A>TCA495620041CETPc.933A>T (p.Ala311=)
c.753A>T (p.Ala251=)
c.738A>T (p.Ala246=)
16g.56975104G>ACA396004079CETPc.934G>A (p.Val312Met)
c.754G>A (p.Val252Met)
c.739G>A (p.Val247Met)
16g.56975104G>CCA396004080CETPc.934G>C (p.Val312Leu)
c.754G>C (p.Val252Leu)
c.739G>C (p.Val247Leu)
16g.56975104G>TCA396004081CETPc.934G>T (p.Val312Leu)
c.754G>T (p.Val252Leu)
c.739G>T (p.Val247Leu)
16g.56975105T>ACA396004084CETPc.935T>A (p.Val312Glu)
c.755T>A (p.Val252Glu)
c.740T>A (p.Val247Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56975105T>CCA396004082CETPc.935T>C (p.Val312Ala)
c.755T>C (p.Val252Ala)
c.740T>C (p.Val247Ala)
dbSNP gnomAD v2 gnomAD v4
16g.56975105T>GCA396004083CETPc.935T>G (p.Val312Gly)
c.755T>G (p.Val252Gly)
c.740T>G (p.Val247Gly)
16g.56975105T=CA2224400086CETPc.935T= (p.Val312=)
c.755T= (p.Val252=)
c.740T= (p.Val247=)
16g.56975106G>ACA495620045CETPc.936G>A (p.Val312=)
c.756G>A (p.Val252=)
c.741G>A (p.Val247=)
gnomAD v4
16g.56975106G>CCA495620043CETPc.936G>C (p.Val312=)
c.756G>C (p.Val252=)
c.741G>C (p.Val247=)
16g.56975106G>TCA495620044CETPc.936G>T (p.Val312=)
c.756G>T (p.Val252=)
c.741G>T (p.Val247=)
16g.56975106_56975107delinsGCCA2224400087CETPc.936_937delinsGC (p.Val312=)
c.756_757delinsGC (p.Val252=)
c.741_742delinsGC (p.Val247=)
16g.56975107delCA622342459CETPc.937del (p.Leu313TrpfsTer?)
c.757del (p.Leu253TrpfsTer?)
c.742del (p.Leu248TrpfsTer?)
dbSNP gnomAD v2 gnomAD v4
16g.56975107C>ACA396004085CETPc.937C>A (p.Leu313Met)
c.757C>A (p.Leu253Met)
c.742C>A (p.Leu248Met)
16g.56975107C=CA2224400088CETPc.937C= (p.Leu313=)
c.757C= (p.Leu253=)
c.742C= (p.Leu248=)
16g.56975107C>GCA396004086CETPc.937C>G (p.Leu313Val)
c.757C>G (p.Leu253Val)
c.742C>G (p.Leu248Val)
16g.56975107C>TCA495620047CETPc.937C>T (p.Leu313=)
c.757C>T (p.Leu253=)
c.742C>T (p.Leu248=)
dbSNP gnomAD v3 gnomAD v4
16g.56975108T>ACA396004087CETPc.938T>A (p.Leu313Gln)
c.758T>A (p.Leu253Gln)
c.743T>A (p.Leu248Gln)
16g.56975108T>CCA396004088CETPc.938T>C (p.Leu313Pro)
c.758T>C (p.Leu253Pro)
c.743T>C (p.Leu248Pro)
COSMIC
16g.56975108T>GCA396004089CETPc.938T>G (p.Leu313Arg)
c.758T>G (p.Leu253Arg)
c.743T>G (p.Leu248Arg)
16g.56975109G>ACA495620054CETPc.939G>A (p.Leu313=)
c.759G>A (p.Leu253=)
c.744G>A (p.Leu248=)
16g.56975109G>CCA495620050CETPc.939G>C (p.Leu313=)
c.759G>C (p.Leu253=)
c.744G>C (p.Leu248=)
16g.56975109G>TCA495620049CETPc.939G>T (p.Leu313=)
c.759G>T (p.Leu253=)
c.744G>T (p.Leu248=)
16g.56975110G>ACA8071163CETPc.940G>A (p.Glu314Lys)
c.760G>A (p.Glu254Lys)
c.745G>A (p.Glu249Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56975110G>CCA396004091CETPc.940G>C (p.Glu314Gln)
c.760G>C (p.Glu254Gln)
c.745G>C (p.Glu249Gln)
16g.56975110G=CA2224400089CETPc.940G= (p.Glu314=)
c.760G= (p.Glu254=)
c.745G= (p.Glu249=)
16g.56975110G>TCA396004090CETPc.940G>T (p.Glu314Ter)
c.760G>T (p.Glu254Ter)
c.745G>T (p.Glu249Ter)
16g.56975111A>CCA396004092CETPc.941A>C (p.Glu314Ala)
c.761A>C (p.Glu254Ala)
c.746A>C (p.Glu249Ala)
16g.56975111A>GCA396004093CETPc.941A>G (p.Glu314Gly)
c.761A>G (p.Glu254Gly)
c.746A>G (p.Glu249Gly)
16g.56975111A>TCA396004094CETPc.941A>T (p.Glu314Val)
c.761A>T (p.Glu254Val)
c.746A>T (p.Glu249Val)
16g.56975112G>ACA281525378CETPc.942G>A (p.Glu314=)
c.762G>A (p.Glu254=)
c.747G>A (p.Glu249=)
dbSNP gnomAD v4
16g.56975112G>CCA396004095CETPc.942G>C (p.Glu314Asp)
c.762G>C (p.Glu254Asp)
c.747G>C (p.Glu249Asp)
16g.56975112G=CA2224400090CETPc.942G= (p.Glu314=)
c.762G= (p.Glu254=)
c.747G= (p.Glu249=)
16g.56975112G>TCA396004096CETPc.942G>T (p.Glu314Asp)
c.762G>T (p.Glu254Asp)
c.747G>T (p.Glu249Asp)
16g.56975113A>CCA396004097CETPc.943A>C (p.Thr315Pro)
c.763A>C (p.Thr255Pro)
c.748A>C (p.Thr250Pro)
16g.56975113A>GCA396004098CETPc.943A>G (p.Thr315Ala)
c.763A>G (p.Thr255Ala)
c.748A>G (p.Thr250Ala)
16g.56975113A>TCA396004099CETPc.943A>T (p.Thr315Ser)
c.763A>T (p.Thr255Ser)
c.748A>T (p.Thr250Ser)
16g.56975114C>ACA396004100CETPc.944C>A (p.Thr315Asn)
c.764C>A (p.Thr255Asn)
c.749C>A (p.Thr250Asn)
16g.56975114C>GCA396004101CETPc.944C>G (p.Thr315Ser)
c.764C>G (p.Thr255Ser)
c.749C>G (p.Thr250Ser)
16g.56975114C>TCA396004102CETPc.944C>T (p.Thr315Ile)
c.764C>T (p.Thr255Ile)
c.749C>T (p.Thr250Ile)
16g.56975115C>ACA495620058CETPc.945C>A (p.Thr315=)
c.765C>A (p.Thr255=)
c.750C>A (p.Thr250=)
16g.56975115C>GCA495620060CETPc.945C>G (p.Thr315=)
c.765C>G (p.Thr255=)
c.750C>G (p.Thr250=)
16g.56975115C>TCA495620062CETPc.945C>T (p.Thr315=)
c.765C>T (p.Thr255=)
c.750C>T (p.Thr250=)
16g.56975116T>ACA396004105CETPc.946T>A (p.Trp316Arg)
c.766T>A (p.Trp256Arg)
c.751T>A (p.Trp251Arg)
16g.56975116T>CCA396004104CETPc.946T>C (p.Trp316Arg)
c.766T>C (p.Trp256Arg)
c.751T>C (p.Trp251Arg)
ClinVar gnomAD v4
16g.56975116T>GCA396004103CETPc.946T>G (p.Trp316Gly)
c.766T>G (p.Trp256Gly)
c.751T>G (p.Trp251Gly)
16g.56975117G>ACA396004106CETPc.947G>A (p.Trp316Ter)
c.767G>A (p.Trp256Ter)
c.752G>A (p.Trp251Ter)
16g.56975117G>CCA396004108CETPc.947G>C (p.Trp316Ser)
c.767G>C (p.Trp256Ser)
c.752G>C (p.Trp251Ser)
16g.56975117G>TCA396004107CETPc.947G>T (p.Trp316Leu)
c.767G>T (p.Trp256Leu)
c.752G>T (p.Trp251Leu)
16g.56975120delCA2633389134CETPc.950del (p.Gly317AlafsTer?)
c.770del (p.Gly257AlafsTer?)
c.755del (p.Gly252AlafsTer?)
gnomAD v4
16g.56975118G>ACA396004109CETPc.948G>A (p.Trp316Ter)
c.768G>A (p.Trp256Ter)
c.753G>A (p.Trp251Ter)
COSMIC
16g.56975118G>CCA396004111CETPc.948G>C (p.Trp316Cys)
c.768G>C (p.Trp256Cys)
c.753G>C (p.Trp251Cys)
16g.56975118G>TCA396004110CETPc.948G>T (p.Trp316Cys)
c.768G>T (p.Trp256Cys)
c.753G>T (p.Trp251Cys)
16g.56975119G>ACA396004112CETPc.949G>A (p.Gly317Ser)
c.769G>A (p.Gly257Ser)
c.754G>A (p.Gly252Ser)
16g.56975119G>CCA396004114CETPc.949G>C (p.Gly317Arg)
c.769G>C (p.Gly257Arg)
c.754G>C (p.Gly252Arg)
dbSNP
16g.56975119G=CA2224400091CETPc.949G= (p.Gly317=)
c.769G= (p.Gly257=)
c.754G= (p.Gly252=)
16g.56975119G>TCA396004113CETPc.949G>T (p.Gly317Cys)
c.769G>T (p.Gly257Cys)
c.754G>T (p.Gly252Cys)
16g.56975120G>ACA8071164CETPc.950G>A (p.Gly317Asp)
c.770G>A (p.Gly257Asp)
c.755G>A (p.Gly252Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56975120G>CCA396004115CETPc.950G>C (p.Gly317Ala)
c.770G>C (p.Gly257Ala)
c.755G>C (p.Gly252Ala)
gnomAD v4
16g.56975120G=CA2224400092CETPc.950G= (p.Gly317=)
c.770G= (p.Gly257=)
c.755G= (p.Gly252=)
16g.56975120G>TCA281525391CETPc.950G>T (p.Gly317Val)
c.770G>T (p.Gly257Val)
c.755G>T (p.Gly252Val)
dbSNP
16g.56975121C>ACA495620066CETPc.951C>A (p.Gly317=)
c.771C>A (p.Gly257=)
c.756C>A (p.Gly252=)
16g.56975121C=CA2224400093CETPc.951C= (p.Gly317=)
c.771C= (p.Gly257=)
c.756C= (p.Gly252=)
16g.56975121C>GCA495620067CETPc.951C>G (p.Gly317=)
c.771C>G (p.Gly257=)
c.756C>G (p.Gly252=)
16g.56975121C>TCA8071165CETPc.951C>T (p.Gly317=)
c.771C>T (p.Gly257=)
c.756C>T (p.Gly252=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56975122T>ACA396004116CETPc.952T>A (p.Phe318Ile)
c.772T>A (p.Phe258Ile)
c.757T>A (p.Phe253Ile)
16g.56975122T>CCA396004117CETPc.952T>C (p.Phe318Leu)
c.772T>C (p.Phe258Leu)
c.757T>C (p.Phe253Leu)
16g.56975122T>GCA396004118CETPc.952T>G (p.Phe318Val)
c.772T>G (p.Phe258Val)
c.757T>G (p.Phe253Val)
16g.56975122_56975132delinsTTCAACACCAACA2224400094CETPc.952_962delinsTTCAACACCAA (p.Phe318=)
c.772_782delinsTTCAACACCAA (p.Phe258=)
c.757_767delinsTTCAACACCAA (p.Phe253=)
16g.56975123T>ACA396004119CETPc.953T>A (p.Phe318Tyr)
c.773T>A (p.Phe258Tyr)
c.758T>A (p.Phe253Tyr)
16g.56975123T>CCA396004120CETPc.953T>C (p.Phe318Ser)
c.773T>C (p.Phe258Ser)
c.758T>C (p.Phe253Ser)
16g.56975123T>GCA396004121CETPc.953T>G (p.Phe318Cys)
c.773T>G (p.Phe258Cys)
c.758T>G (p.Phe253Cys)
16g.56975123_56975132delCA8071166CETPc.953_962del (p.Phe318SerfsTer?)
c.773_782del (p.Phe258SerfsTer?)
c.758_767del (p.Phe253SerfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56975124C>ACA396004122CETPc.954C>A (p.Phe318Leu)
c.774C>A (p.Phe258Leu)
c.759C>A (p.Phe253Leu)
16g.56975124C>GCA396004123CETPc.954C>G (p.Phe318Leu)
c.774C>G (p.Phe258Leu)
c.759C>G (p.Phe253Leu)
16g.56975124C>TCA495620073CETPc.954C>T (p.Phe318=)
c.774C>T (p.Phe258=)
c.759C>T (p.Phe253=)
16g.56975125A>CCA396004126CETPc.955A>C (p.Asn319His)
c.775A>C (p.Asn259His)
c.760A>C (p.Asn254His)
16g.56975125A>GCA396004125CETPc.955A>G (p.Asn319Asp)
c.775A>G (p.Asn259Asp)
c.760A>G (p.Asn254Asp)
16g.56975125A>TCA396004124CETPc.955A>T (p.Asn319Tyr)
c.775A>T (p.Asn259Tyr)
c.760A>T (p.Asn254Tyr)
16g.56975126A>CCA396004127CETPc.956A>C (p.Asn319Thr)
c.776A>C (p.Asn259Thr)
c.761A>C (p.Asn254Thr)
16g.56975126A>GCA396004128CETPc.956A>G (p.Asn319Ser)
c.776A>G (p.Asn259Ser)
c.761A>G (p.Asn254Ser)
16g.56975126A>TCA396004129CETPc.956A>T (p.Asn319Ile)
c.776A>T (p.Asn259Ile)
c.761A>T (p.Asn254Ile)
16g.56975127C>ACA8071167CETPc.957C>A (p.Asn319Lys)
c.777C>A (p.Asn259Lys)
c.762C>A (p.Asn254Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56975127C=CA2224400095CETPc.957C= (p.Asn319=)
c.777C= (p.Asn259=)
c.762C= (p.Asn254=)
16g.56975127C>GCA396004130CETPc.957C>G (p.Asn319Lys)
c.777C>G (p.Asn259Lys)
c.762C>G (p.Asn254Lys)
16g.56975127C>TCA495620076CETPc.957C>T (p.Asn319=)
c.777C>T (p.Asn259=)
c.762C>T (p.Asn254=)
16g.56975128A>CCA396004131CETPc.958A>C (p.Thr320Pro)
c.778A>C (p.Thr260Pro)
c.763A>C (p.Thr255Pro)
16g.56975128A>GCA396004132CETPc.958A>G (p.Thr320Ala)
c.778A>G (p.Thr260Ala)
c.763A>G (p.Thr255Ala)
16g.56975128A>TCA396004133CETPc.958A>T (p.Thr320Ser)
c.778A>T (p.Thr260Ser)
c.763A>T (p.Thr255Ser)
16g.56975129C>ACA396004134CETPc.959C>A (p.Thr320Asn)
c.779C>A (p.Thr260Asn)
c.764C>A (p.Thr255Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56975129C=CA2224400096CETPc.959C= (p.Thr320=)
c.779C= (p.Thr260=)
c.764C= (p.Thr255=)
16g.56975129C>GCA396004135CETPc.959C>G (p.Thr320Ser)
c.779C>G (p.Thr260Ser)
c.764C>G (p.Thr255Ser)
16g.56975129C>TCA396004136CETPc.959C>T (p.Thr320Ile)
c.779C>T (p.Thr260Ile)
c.764C>T (p.Thr255Ile)
dbSNP gnomAD v2 gnomAD v4
16g.56975130C>ACA495620077CETPc.960C>A (p.Thr320=)
c.780C>A (p.Thr260=)
c.765C>A (p.Thr255=)
16g.56975130C=CA2224400097CETPc.960C= (p.Thr320=)
c.780C= (p.Thr260=)
c.765C= (p.Thr255=)
16g.56975130C>GCA495620078CETPc.960C>G (p.Thr320=)
c.780C>G (p.Thr260=)
c.765C>G (p.Thr255=)
16g.56975130C>TCA495620079CETPc.960C>T (p.Thr320=)
c.780C>T (p.Thr260=)
c.765C>T (p.Thr255=)
dbSNP gnomAD v4
16g.56975131A>CCA396004139CETPc.961A>C (p.Asn321His)
c.781A>C (p.Asn261His)
c.766A>C (p.Asn256His)
16g.56975131A>GCA396004138CETPc.961A>G (p.Asn321Asp)
c.781A>G (p.Asn261Asp)
c.766A>G (p.Asn256Asp)
16g.56975131A>TCA396004137CETPc.961A>T (p.Asn321Tyr)
c.781A>T (p.Asn261Tyr)
c.766A>T (p.Asn256Tyr)
16g.56975132A=CA2224400098CETPc.962A= (p.Asn321=)
c.782A= (p.Asn261=)
c.767A= (p.Asn256=)
16g.56975132A>CCA396004140CETPc.962A>C (p.Asn321Thr)
c.782A>C (p.Asn261Thr)
c.767A>C (p.Asn256Thr)
gnomAD v4
16g.56975132A>GCA396004141CETPc.962A>G (p.Asn321Ser)
c.782A>G (p.Asn261Ser)
c.767A>G (p.Asn256Ser)
dbSNP
16g.56975132A>TCA396004142CETPc.962A>T (p.Asn321Ile)
c.782A>T (p.Asn261Ile)
c.767A>T (p.Asn256Ile)

Number of alleles fetched