Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56975033del | CA2732294037 | CETP | c.931-68del (n.931-68del) c.751-68del (n.751-68del) c.736-68del (n.736-68del) | dbSNP |
16 | g.56975032C>A | CA2633389030 | CETP | c.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 |
16 | g.56975032C>T | CA2633389031 | CETP | c.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 |
16 | g.56975036C>A | CA977673190 | CETP | c.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 |
16 | g.56975036C= | CA2224400055 | CETP | c.931-65C= (n.931-65C=) c.751-65C= (n.751-65C=) c.736-65C= (n.736-65C=) | |
16 | g.56975036C>T | CA281525222 | CETP | c.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 |
16 | g.56975037G>A | CA281525226 | CETP | c.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 |
16 | g.56975037G>C | CA2633389038 | CETP | c.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 |
16 | g.56975037G= | CA2224400056 | CETP | c.931-64G= (n.931-64G=) c.751-64G= (n.751-64G=) c.736-64G= (n.736-64G=) | |
16 | g.56975037G>T | CA2633389040 | CETP | c.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 |
16 | g.56975039A>G | CA2633389043 | CETP | c.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 |
16 | g.56975040G>A | CA2576002903 | CETP | c.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 |
16 | g.56975040G>C | CA2576002904 | CETP | c.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 |
16 | g.56975043T>C | CA2224400058 | CETP | c.931-58T>C (n.931-58T>C) c.751-58T>C (n.751-58T>C) c.736-58T>C (n.736-58T>C) | dbSNP |
16 | g.56975043T= | CA2224400057 | CETP | c.931-58T= (n.931-58T=) c.751-58T= (n.751-58T=) c.736-58T= (n.736-58T=) | |
16 | g.56975048C= | CA2224400059 | CETP | c.931-53C= (n.931-53C=) c.751-53C= (n.751-53C=) c.736-53C= (n.736-53C=) | |
16 | g.56975048C>T | CA2224400060 | CETP | c.931-53C>T (n.931-53C>T) c.751-53C>T (n.751-53C>T) c.736-53C>T (n.736-53C>T) | dbSNP |
16 | g.56975049T>C | CA2633389048 | CETP | c.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 |
16 | g.56975050G>A | CA2633389051 | CETP | c.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 |
16 | g.56975053G>A | CA2633389056 | CETP | c.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 |
16 | g.56975053G= | CA2224400061 | CETP | c.931-48G= (n.931-48G=) c.751-48G= (n.751-48G=) c.736-48G= (n.736-48G=) | |
16 | g.56975053G>T | CA722018100 | CETP | c.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 |
16 | g.56975055G>A | CA2633389060 | CETP | c.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 |
16 | g.56975055G>T | CA2633389061 | CETP | c.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 |
16 | g.56975056T>A | CA2224400063 | CETP | c.931-45T>A (n.931-45T>A) c.751-45T>A (n.751-45T>A) c.736-45T>A (n.736-45T>A) | dbSNP |
16 | g.56975056T= | CA2224400062 | CETP | c.931-45T= (n.931-45T=) c.751-45T= (n.751-45T=) c.736-45T= (n.736-45T=) | |
16 | g.56975057G>A | CA2633389063 | CETP | c.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 |
16 | g.56975058del | CA2576002905 | CETP | c.931-43del (n.931-43del) c.751-43del (n.751-43del) c.736-43del (n.736-43del) | |
16 | g.56975058G>A | CA2633389066 | CETP | c.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 |
16 | g.56975058G>T | CA2576002906 | CETP | c.931-43G>T (n.931-43G>T) c.751-43G>T (n.751-43G>T) c.736-43G>T (n.736-43G>T) | |
16 | g.56975059A= | CA2224400064 | CETP | c.931-42A= (n.931-42A=) c.751-42A= (n.751-42A=) c.736-42A= (n.736-42A=) | |
16 | g.56975059A>G | CA622342430 | CETP | c.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 |
16 | g.56975060C>A | CA8071154 | CETP | c.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 |
16 | g.56975060C= | CA2224400065 | CETP | c.931-41C= (n.931-41C=) c.751-41C= (n.751-41C=) c.736-41C= (n.736-41C=) | |
16 | g.56975060C>G | CA722018104 | CETP | c.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 |
16 | g.56975060C>T | CA977673195 | CETP | c.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 |
16 | g.56975063T>C | CA722018107 | CETP | c.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 |
16 | g.56975063T= | CA2224400066 | CETP | c.931-38T= (n.931-38T=) c.751-38T= (n.751-38T=) c.736-38T= (n.736-38T=) | |
16 | g.56975064A>G | CA2633389082 | CETP | c.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 |
16 | g.56975065C= | CA2224400067 | CETP | c.931-36C= (n.931-36C=) c.751-36C= (n.751-36C=) c.736-36C= (n.736-36C=) | |
16 | g.56975065C>G | CA2633389089 | CETP | c.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 |
16 | g.56975065C>T | CA8071155 | CETP | c.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 |
16 | g.56975066T>G | CA2224400069 | CETP | c.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 |
16 | g.56975066T= | CA2224400068 | CETP | c.931-35T= (n.931-35T=) c.751-35T= (n.751-35T=) c.736-35T= (n.736-35T=) | |
16 | g.56975067C>A | CA2633389096 | CETP | c.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 |
16 | g.56975067C= | CA2224400070 | CETP | c.931-34C= (n.931-34C=) c.751-34C= (n.751-34C=) c.736-34C= (n.736-34C=) | |
16 | g.56975067C>T | CA8071156 | CETP | c.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 |
16 | g.56975073_56975076del | CA2633389094 | CETP | c.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 |
16 | g.56975068C= | CA2224400071 | CETP | c.931-33C= (n.931-33C=) c.751-33C= (n.751-33C=) c.736-33C= (n.736-33C=) | |
16 | g.56975068C>T | CA722018113 | CETP | c.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 |
16 | g.56975070C>T | CA2576002908 | CETP | c.931-31C>T (n.931-31C>T) c.751-31C>T (n.751-31C>T) c.736-31C>T (n.736-31C>T) | |
16 | g.56975072del | CA2576002907 | CETP | c.931-29del (n.931-29del) c.751-29del (n.751-29del) c.736-29del (n.736-29del) | |
16 | g.56975071C>A | CA2558232056 | CETP | c.931-30C>A (n.931-30C>A) c.751-30C>A (n.751-30C>A) c.736-30C>A (n.736-30C>A) | |
16 | g.56975072C>A | CA8071157 | CETP | c.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 |
16 | g.56975072C= | CA2224400072 | CETP | c.931-29C= (n.931-29C=) c.751-29C= (n.751-29C=) c.736-29C= (n.736-29C=) | |
16 | g.56975072C>T | CA977673203 | CETP | c.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 |
16 | g.56975073A= | CA2224400073 | CETP | c.931-28A= (n.931-28A=) c.751-28A= (n.751-28A=) c.736-28A= (n.736-28A=) | |
16 | g.56975073A>G | CA8071158 | CETP | c.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 |
16 | g.56975073_56975074delinsAC | CA2224400074 | CETP | c.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) | |
16 | g.56975074C>G | CA2633389102 | CETP | c.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 |
16 | g.56975076del | CA8071159 | CETP | c.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 |
16 | g.56975076C>A | CA2576002909 | CETP | c.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 |
16 | g.56975077T>C | CA2576002910 | CETP | c.931-24T>C (n.931-24T>C) c.751-24T>C (n.751-24T>C) c.736-24T>C (n.736-24T>C) | |
16 | g.56975079C>T | CA2807162146 | CETP | c.931-22C>T (n.931-22C>T) c.751-22C>T (n.751-22C>T) c.736-22C>T (n.736-22C>T) | |
16 | g.56975081A= | CA2224400075 | CETP | c.931-20A= (n.931-20A=) c.751-20A= (n.751-20A=) c.736-20A= (n.736-20A=) | |
16 | g.56975081A>C | CA722018123 | CETP | c.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 |
16 | g.56975081A>G | CA2633389107 | CETP | c.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 |
16 | g.56975082C>A | CA8071160 | CETP | c.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 |
16 | g.56975082C= | CA2224400076 | CETP | c.931-19C= (n.931-19C=) c.751-19C= (n.751-19C=) c.736-19C= (n.736-19C=) | |
16 | g.56975082C>T | CA2633389110 | CETP | c.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 |
16 | g.56975083T>G | CA8071161 | CETP | c.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 |
16 | g.56975083T= | CA2224400077 | CETP | c.931-18T= (n.931-18T=) c.751-18T= (n.751-18T=) c.736-18T= (n.736-18T=) | |
16 | g.56975085C>T | CA2807162147 | CETP | c.931-16C>T (n.931-16C>T) c.751-16C>T (n.751-16C>T) c.736-16C>T (n.736-16C>T) | |
16 | g.56975086C>T | CA2633389114 | CETP | c.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 |
16 | g.56975087T>A | CA2633389115 | CETP | c.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 |
16 | g.56975088C>A | CA2633389116 | CETP | c.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 |
16 | g.56975089A= | CA2224400078 | CETP | c.931-12A= (n.931-12A=) c.751-12A= (n.751-12A=) c.736-12A= (n.736-12A=) | |
16 | g.56975089A>G | CA722018128 | CETP | c.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 |
16 | g.56975089A>T | CA495620032 | CETP | c.931-12A>T (n.931-12A>T) c.751-12A>T (n.751-12A>T) c.736-12A>T (n.736-12A>T) | |
16 | g.56975092T>C | CA722018131 | CETP | c.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 |
16 | g.56975092T= | CA2224400079 | CETP | c.931-9T= (n.931-9T=) c.751-9T= (n.751-9T=) c.736-9T= (n.736-9T=) | |
16 | g.56975093_56975094delinsCT | CA2224400080 | CETP | c.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) | |
16 | g.56975097del | CA722018132 | CETP | c.931-4del (n.931-4del) c.751-4del (n.751-4del) c.736-4del (n.736-4del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56975096T>C | CA622342447 | CETP | c.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 |
16 | g.56975096T= | CA2224400081 | CETP | c.931-5T= (n.931-5T=) c.751-5T= (n.751-5T=) c.736-5T= (n.736-5T=) | |
16 | g.56975098C>T | CA2633389118 | CETP | c.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 |
16 | g.56975099A= | CA2224400082 | CETP | c.931-2A= (n.931-2A=) c.751-2A= (n.751-2A=) c.736-2A= (n.736-2A=) | |
16 | g.56975099A>C | CA396004069 | CETP | c.931-2A>C (n.931-2A>C) c.751-2A>C (n.751-2A>C) c.736-2A>C (n.736-2A>C) | |
16 | g.56975099A>G | CA396004070 | CETP | c.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 |
16 | g.56975099A>T | CA396004071 | CETP | c.931-2A>T (n.931-2A>T) c.751-2A>T (n.751-2A>T) c.736-2A>T (n.736-2A>T) | |
16 | g.56975100G>A | CA8071162 | CETP | c.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 |
16 | g.56975100G>C | CA396004072 | CETP | c.931-1G>C (n.931-1G>C) c.751-1G>C (n.751-1G>C) c.736-1G>C (n.736-1G>C) | |
16 | g.56975100G= | CA2224400083 | CETP | c.931-1G= (n.931-1G=) c.751-1G= (n.751-1G=) c.736-1G= (n.736-1G=) | |
16 | g.56975100G>T | CA396004073 | CETP | c.931-1G>T (n.931-1G>T) c.751-1G>T (n.751-1G>T) c.736-1G>T (n.736-1G>T) | |
16 | g.56975101G>A | CA396004076 | CETP | c.931G>A (p.Ala311Thr) c.751G>A (p.Ala251Thr) c.736G>A (p.Ala246Thr) | dbSNP gnomAD v4 |
16 | g.56975101G>C | CA396004075 | CETP | c.931G>C (p.Ala311Pro) c.751G>C (p.Ala251Pro) c.736G>C (p.Ala246Pro) | |
16 | g.56975101G= | CA2224400084 | CETP | c.931G= (p.Ala311=) c.751G= (p.Ala251=) c.736G= (p.Ala246=) | |
16 | g.56975101G>T | CA396004074 | CETP | c.931G>T (p.Ala311Ser) c.751G>T (p.Ala251Ser) c.736G>T (p.Ala246Ser) | |
16 | g.56975102C>A | CA396004077 | CETP | c.932C>A (p.Ala311Glu) c.752C>A (p.Ala251Glu) c.737C>A (p.Ala246Glu) | |
16 | g.56975102C= | CA2224400085 | CETP | c.932C= (p.Ala311=) c.752C= (p.Ala251=) c.737C= (p.Ala246=) | |
16 | g.56975102C>G | CA396004078 | CETP | c.932C>G (p.Ala311Gly) c.752C>G (p.Ala251Gly) c.737C>G (p.Ala246Gly) | |
16 | g.56975102C>T | CA281525353 | CETP | c.932C>T (p.Ala311Val) c.752C>T (p.Ala251Val) c.737C>T (p.Ala246Val) | dbSNP gnomAD v4 COSMIC |
16 | g.56975103A>C | CA495620037 | CETP | c.933A>C (p.Ala311=) c.753A>C (p.Ala251=) c.738A>C (p.Ala246=) | |
16 | g.56975103A>G | CA495620039 | CETP | c.933A>G (p.Ala311=) c.753A>G (p.Ala251=) c.738A>G (p.Ala246=) | gnomAD v4 |
16 | g.56975103A>T | CA495620041 | CETP | c.933A>T (p.Ala311=) c.753A>T (p.Ala251=) c.738A>T (p.Ala246=) | |
16 | g.56975104G>A | CA396004079 | CETP | c.934G>A (p.Val312Met) c.754G>A (p.Val252Met) c.739G>A (p.Val247Met) | |
16 | g.56975104G>C | CA396004080 | CETP | c.934G>C (p.Val312Leu) c.754G>C (p.Val252Leu) c.739G>C (p.Val247Leu) | |
16 | g.56975104G>T | CA396004081 | CETP | c.934G>T (p.Val312Leu) c.754G>T (p.Val252Leu) c.739G>T (p.Val247Leu) | |
16 | g.56975105T>A | CA396004084 | CETP | c.935T>A (p.Val312Glu) c.755T>A (p.Val252Glu) c.740T>A (p.Val247Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56975105T>C | CA396004082 | CETP | c.935T>C (p.Val312Ala) c.755T>C (p.Val252Ala) c.740T>C (p.Val247Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56975105T>G | CA396004083 | CETP | c.935T>G (p.Val312Gly) c.755T>G (p.Val252Gly) c.740T>G (p.Val247Gly) | |
16 | g.56975105T= | CA2224400086 | CETP | c.935T= (p.Val312=) c.755T= (p.Val252=) c.740T= (p.Val247=) | |
16 | g.56975106G>A | CA495620045 | CETP | c.936G>A (p.Val312=) c.756G>A (p.Val252=) c.741G>A (p.Val247=) | gnomAD v4 |
16 | g.56975106G>C | CA495620043 | CETP | c.936G>C (p.Val312=) c.756G>C (p.Val252=) c.741G>C (p.Val247=) | |
16 | g.56975106G>T | CA495620044 | CETP | c.936G>T (p.Val312=) c.756G>T (p.Val252=) c.741G>T (p.Val247=) | |
16 | g.56975106_56975107delinsGC | CA2224400087 | CETP | c.936_937delinsGC (p.Val312=) c.756_757delinsGC (p.Val252=) c.741_742delinsGC (p.Val247=) | |
16 | g.56975107del | CA622342459 | CETP | c.937del (p.Leu313TrpfsTer?) c.757del (p.Leu253TrpfsTer?) c.742del (p.Leu248TrpfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56975107C>A | CA396004085 | CETP | c.937C>A (p.Leu313Met) c.757C>A (p.Leu253Met) c.742C>A (p.Leu248Met) | |
16 | g.56975107C= | CA2224400088 | CETP | c.937C= (p.Leu313=) c.757C= (p.Leu253=) c.742C= (p.Leu248=) | |
16 | g.56975107C>G | CA396004086 | CETP | c.937C>G (p.Leu313Val) c.757C>G (p.Leu253Val) c.742C>G (p.Leu248Val) | |
16 | g.56975107C>T | CA495620047 | CETP | c.937C>T (p.Leu313=) c.757C>T (p.Leu253=) c.742C>T (p.Leu248=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56975108T>A | CA396004087 | CETP | c.938T>A (p.Leu313Gln) c.758T>A (p.Leu253Gln) c.743T>A (p.Leu248Gln) | |
16 | g.56975108T>C | CA396004088 | CETP | c.938T>C (p.Leu313Pro) c.758T>C (p.Leu253Pro) c.743T>C (p.Leu248Pro) | COSMIC |
16 | g.56975108T>G | CA396004089 | CETP | c.938T>G (p.Leu313Arg) c.758T>G (p.Leu253Arg) c.743T>G (p.Leu248Arg) | |
16 | g.56975109G>A | CA495620054 | CETP | c.939G>A (p.Leu313=) c.759G>A (p.Leu253=) c.744G>A (p.Leu248=) | |
16 | g.56975109G>C | CA495620050 | CETP | c.939G>C (p.Leu313=) c.759G>C (p.Leu253=) c.744G>C (p.Leu248=) | |
16 | g.56975109G>T | CA495620049 | CETP | c.939G>T (p.Leu313=) c.759G>T (p.Leu253=) c.744G>T (p.Leu248=) | |
16 | g.56975110G>A | CA8071163 | CETP | c.940G>A (p.Glu314Lys) c.760G>A (p.Glu254Lys) c.745G>A (p.Glu249Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56975110G>C | CA396004091 | CETP | c.940G>C (p.Glu314Gln) c.760G>C (p.Glu254Gln) c.745G>C (p.Glu249Gln) | |
16 | g.56975110G= | CA2224400089 | CETP | c.940G= (p.Glu314=) c.760G= (p.Glu254=) c.745G= (p.Glu249=) | |
16 | g.56975110G>T | CA396004090 | CETP | c.940G>T (p.Glu314Ter) c.760G>T (p.Glu254Ter) c.745G>T (p.Glu249Ter) | |
16 | g.56975111A>C | CA396004092 | CETP | c.941A>C (p.Glu314Ala) c.761A>C (p.Glu254Ala) c.746A>C (p.Glu249Ala) | |
16 | g.56975111A>G | CA396004093 | CETP | c.941A>G (p.Glu314Gly) c.761A>G (p.Glu254Gly) c.746A>G (p.Glu249Gly) | |
16 | g.56975111A>T | CA396004094 | CETP | c.941A>T (p.Glu314Val) c.761A>T (p.Glu254Val) c.746A>T (p.Glu249Val) | |
16 | g.56975112G>A | CA281525378 | CETP | c.942G>A (p.Glu314=) c.762G>A (p.Glu254=) c.747G>A (p.Glu249=) | dbSNP gnomAD v4 |
16 | g.56975112G>C | CA396004095 | CETP | c.942G>C (p.Glu314Asp) c.762G>C (p.Glu254Asp) c.747G>C (p.Glu249Asp) | |
16 | g.56975112G= | CA2224400090 | CETP | c.942G= (p.Glu314=) c.762G= (p.Glu254=) c.747G= (p.Glu249=) | |
16 | g.56975112G>T | CA396004096 | CETP | c.942G>T (p.Glu314Asp) c.762G>T (p.Glu254Asp) c.747G>T (p.Glu249Asp) | |
16 | g.56975113A>C | CA396004097 | CETP | c.943A>C (p.Thr315Pro) c.763A>C (p.Thr255Pro) c.748A>C (p.Thr250Pro) | |
16 | g.56975113A>G | CA396004098 | CETP | c.943A>G (p.Thr315Ala) c.763A>G (p.Thr255Ala) c.748A>G (p.Thr250Ala) | |
16 | g.56975113A>T | CA396004099 | CETP | c.943A>T (p.Thr315Ser) c.763A>T (p.Thr255Ser) c.748A>T (p.Thr250Ser) | |
16 | g.56975114C>A | CA396004100 | CETP | c.944C>A (p.Thr315Asn) c.764C>A (p.Thr255Asn) c.749C>A (p.Thr250Asn) | |
16 | g.56975114C>G | CA396004101 | CETP | c.944C>G (p.Thr315Ser) c.764C>G (p.Thr255Ser) c.749C>G (p.Thr250Ser) | |
16 | g.56975114C>T | CA396004102 | CETP | c.944C>T (p.Thr315Ile) c.764C>T (p.Thr255Ile) c.749C>T (p.Thr250Ile) | |
16 | g.56975115C>A | CA495620058 | CETP | c.945C>A (p.Thr315=) c.765C>A (p.Thr255=) c.750C>A (p.Thr250=) | |
16 | g.56975115C>G | CA495620060 | CETP | c.945C>G (p.Thr315=) c.765C>G (p.Thr255=) c.750C>G (p.Thr250=) | |
16 | g.56975115C>T | CA495620062 | CETP | c.945C>T (p.Thr315=) c.765C>T (p.Thr255=) c.750C>T (p.Thr250=) | |
16 | g.56975116T>A | CA396004105 | CETP | c.946T>A (p.Trp316Arg) c.766T>A (p.Trp256Arg) c.751T>A (p.Trp251Arg) | |
16 | g.56975116T>C | CA396004104 | CETP | c.946T>C (p.Trp316Arg) c.766T>C (p.Trp256Arg) c.751T>C (p.Trp251Arg) | ClinVar gnomAD v4 |
16 | g.56975116T>G | CA396004103 | CETP | c.946T>G (p.Trp316Gly) c.766T>G (p.Trp256Gly) c.751T>G (p.Trp251Gly) | |
16 | g.56975117G>A | CA396004106 | CETP | c.947G>A (p.Trp316Ter) c.767G>A (p.Trp256Ter) c.752G>A (p.Trp251Ter) | |
16 | g.56975117G>C | CA396004108 | CETP | c.947G>C (p.Trp316Ser) c.767G>C (p.Trp256Ser) c.752G>C (p.Trp251Ser) | |
16 | g.56975117G>T | CA396004107 | CETP | c.947G>T (p.Trp316Leu) c.767G>T (p.Trp256Leu) c.752G>T (p.Trp251Leu) | |
16 | g.56975120del | CA2633389134 | CETP | c.950del (p.Gly317AlafsTer?) c.770del (p.Gly257AlafsTer?) c.755del (p.Gly252AlafsTer?) | gnomAD v4 |
16 | g.56975118G>A | CA396004109 | CETP | c.948G>A (p.Trp316Ter) c.768G>A (p.Trp256Ter) c.753G>A (p.Trp251Ter) | COSMIC |
16 | g.56975118G>C | CA396004111 | CETP | c.948G>C (p.Trp316Cys) c.768G>C (p.Trp256Cys) c.753G>C (p.Trp251Cys) | |
16 | g.56975118G>T | CA396004110 | CETP | c.948G>T (p.Trp316Cys) c.768G>T (p.Trp256Cys) c.753G>T (p.Trp251Cys) | |
16 | g.56975119G>A | CA396004112 | CETP | c.949G>A (p.Gly317Ser) c.769G>A (p.Gly257Ser) c.754G>A (p.Gly252Ser) | |
16 | g.56975119G>C | CA396004114 | CETP | c.949G>C (p.Gly317Arg) c.769G>C (p.Gly257Arg) c.754G>C (p.Gly252Arg) | dbSNP |
16 | g.56975119G= | CA2224400091 | CETP | c.949G= (p.Gly317=) c.769G= (p.Gly257=) c.754G= (p.Gly252=) | |
16 | g.56975119G>T | CA396004113 | CETP | c.949G>T (p.Gly317Cys) c.769G>T (p.Gly257Cys) c.754G>T (p.Gly252Cys) | |
16 | g.56975120G>A | CA8071164 | CETP | c.950G>A (p.Gly317Asp) c.770G>A (p.Gly257Asp) c.755G>A (p.Gly252Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56975120G>C | CA396004115 | CETP | c.950G>C (p.Gly317Ala) c.770G>C (p.Gly257Ala) c.755G>C (p.Gly252Ala) | gnomAD v4 |
16 | g.56975120G= | CA2224400092 | CETP | c.950G= (p.Gly317=) c.770G= (p.Gly257=) c.755G= (p.Gly252=) | |
16 | g.56975120G>T | CA281525391 | CETP | c.950G>T (p.Gly317Val) c.770G>T (p.Gly257Val) c.755G>T (p.Gly252Val) | dbSNP |
16 | g.56975121C>A | CA495620066 | CETP | c.951C>A (p.Gly317=) c.771C>A (p.Gly257=) c.756C>A (p.Gly252=) | |
16 | g.56975121C= | CA2224400093 | CETP | c.951C= (p.Gly317=) c.771C= (p.Gly257=) c.756C= (p.Gly252=) | |
16 | g.56975121C>G | CA495620067 | CETP | c.951C>G (p.Gly317=) c.771C>G (p.Gly257=) c.756C>G (p.Gly252=) | |
16 | g.56975121C>T | CA8071165 | CETP | c.951C>T (p.Gly317=) c.771C>T (p.Gly257=) c.756C>T (p.Gly252=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56975122T>A | CA396004116 | CETP | c.952T>A (p.Phe318Ile) c.772T>A (p.Phe258Ile) c.757T>A (p.Phe253Ile) | |
16 | g.56975122T>C | CA396004117 | CETP | c.952T>C (p.Phe318Leu) c.772T>C (p.Phe258Leu) c.757T>C (p.Phe253Leu) | |
16 | g.56975122T>G | CA396004118 | CETP | c.952T>G (p.Phe318Val) c.772T>G (p.Phe258Val) c.757T>G (p.Phe253Val) | |
16 | g.56975122_56975132delinsTTCAACACCAA | CA2224400094 | CETP | c.952_962delinsTTCAACACCAA (p.Phe318=) c.772_782delinsTTCAACACCAA (p.Phe258=) c.757_767delinsTTCAACACCAA (p.Phe253=) | |
16 | g.56975123T>A | CA396004119 | CETP | c.953T>A (p.Phe318Tyr) c.773T>A (p.Phe258Tyr) c.758T>A (p.Phe253Tyr) | |
16 | g.56975123T>C | CA396004120 | CETP | c.953T>C (p.Phe318Ser) c.773T>C (p.Phe258Ser) c.758T>C (p.Phe253Ser) | |
16 | g.56975123T>G | CA396004121 | CETP | c.953T>G (p.Phe318Cys) c.773T>G (p.Phe258Cys) c.758T>G (p.Phe253Cys) | |
16 | g.56975123_56975132del | CA8071166 | CETP | c.953_962del (p.Phe318SerfsTer?) c.773_782del (p.Phe258SerfsTer?) c.758_767del (p.Phe253SerfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56975124C>A | CA396004122 | CETP | c.954C>A (p.Phe318Leu) c.774C>A (p.Phe258Leu) c.759C>A (p.Phe253Leu) | |
16 | g.56975124C>G | CA396004123 | CETP | c.954C>G (p.Phe318Leu) c.774C>G (p.Phe258Leu) c.759C>G (p.Phe253Leu) | |
16 | g.56975124C>T | CA495620073 | CETP | c.954C>T (p.Phe318=) c.774C>T (p.Phe258=) c.759C>T (p.Phe253=) | |
16 | g.56975125A>C | CA396004126 | CETP | c.955A>C (p.Asn319His) c.775A>C (p.Asn259His) c.760A>C (p.Asn254His) | |
16 | g.56975125A>G | CA396004125 | CETP | c.955A>G (p.Asn319Asp) c.775A>G (p.Asn259Asp) c.760A>G (p.Asn254Asp) | |
16 | g.56975125A>T | CA396004124 | CETP | c.955A>T (p.Asn319Tyr) c.775A>T (p.Asn259Tyr) c.760A>T (p.Asn254Tyr) | |
16 | g.56975126A>C | CA396004127 | CETP | c.956A>C (p.Asn319Thr) c.776A>C (p.Asn259Thr) c.761A>C (p.Asn254Thr) | |
16 | g.56975126A>G | CA396004128 | CETP | c.956A>G (p.Asn319Ser) c.776A>G (p.Asn259Ser) c.761A>G (p.Asn254Ser) | |
16 | g.56975126A>T | CA396004129 | CETP | c.956A>T (p.Asn319Ile) c.776A>T (p.Asn259Ile) c.761A>T (p.Asn254Ile) | |
16 | g.56975127C>A | CA8071167 | CETP | c.957C>A (p.Asn319Lys) c.777C>A (p.Asn259Lys) c.762C>A (p.Asn254Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56975127C= | CA2224400095 | CETP | c.957C= (p.Asn319=) c.777C= (p.Asn259=) c.762C= (p.Asn254=) | |
16 | g.56975127C>G | CA396004130 | CETP | c.957C>G (p.Asn319Lys) c.777C>G (p.Asn259Lys) c.762C>G (p.Asn254Lys) | |
16 | g.56975127C>T | CA495620076 | CETP | c.957C>T (p.Asn319=) c.777C>T (p.Asn259=) c.762C>T (p.Asn254=) | |
16 | g.56975128A>C | CA396004131 | CETP | c.958A>C (p.Thr320Pro) c.778A>C (p.Thr260Pro) c.763A>C (p.Thr255Pro) | |
16 | g.56975128A>G | CA396004132 | CETP | c.958A>G (p.Thr320Ala) c.778A>G (p.Thr260Ala) c.763A>G (p.Thr255Ala) | |
16 | g.56975128A>T | CA396004133 | CETP | c.958A>T (p.Thr320Ser) c.778A>T (p.Thr260Ser) c.763A>T (p.Thr255Ser) | |
16 | g.56975129C>A | CA396004134 | CETP | c.959C>A (p.Thr320Asn) c.779C>A (p.Thr260Asn) c.764C>A (p.Thr255Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56975129C= | CA2224400096 | CETP | c.959C= (p.Thr320=) c.779C= (p.Thr260=) c.764C= (p.Thr255=) | |
16 | g.56975129C>G | CA396004135 | CETP | c.959C>G (p.Thr320Ser) c.779C>G (p.Thr260Ser) c.764C>G (p.Thr255Ser) | |
16 | g.56975129C>T | CA396004136 | CETP | c.959C>T (p.Thr320Ile) c.779C>T (p.Thr260Ile) c.764C>T (p.Thr255Ile) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56975130C>A | CA495620077 | CETP | c.960C>A (p.Thr320=) c.780C>A (p.Thr260=) c.765C>A (p.Thr255=) | |
16 | g.56975130C= | CA2224400097 | CETP | c.960C= (p.Thr320=) c.780C= (p.Thr260=) c.765C= (p.Thr255=) | |
16 | g.56975130C>G | CA495620078 | CETP | c.960C>G (p.Thr320=) c.780C>G (p.Thr260=) c.765C>G (p.Thr255=) | |
16 | g.56975130C>T | CA495620079 | CETP | c.960C>T (p.Thr320=) c.780C>T (p.Thr260=) c.765C>T (p.Thr255=) | dbSNP gnomAD v4 |
16 | g.56975131A>C | CA396004139 | CETP | c.961A>C (p.Asn321His) c.781A>C (p.Asn261His) c.766A>C (p.Asn256His) | |
16 | g.56975131A>G | CA396004138 | CETP | c.961A>G (p.Asn321Asp) c.781A>G (p.Asn261Asp) c.766A>G (p.Asn256Asp) | |
16 | g.56975131A>T | CA396004137 | CETP | c.961A>T (p.Asn321Tyr) c.781A>T (p.Asn261Tyr) c.766A>T (p.Asn256Tyr) | |
16 | g.56975132A= | CA2224400098 | CETP | c.962A= (p.Asn321=) c.782A= (p.Asn261=) c.767A= (p.Asn256=) | |
16 | g.56975132A>C | CA396004140 | CETP | c.962A>C (p.Asn321Thr) c.782A>C (p.Asn261Thr) c.767A>C (p.Asn256Thr) | gnomAD v4 |
16 | g.56975132A>G | CA396004141 | CETP | c.962A>G (p.Asn321Ser) c.782A>G (p.Asn261Ser) c.767A>G (p.Asn256Ser) | dbSNP |
16 | g.56975132A>T | CA396004142 | CETP | c.962A>T (p.Asn321Ile) c.782A>T (p.Asn261Ile) c.767A>T (p.Asn256Ile) |