OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.50471669T>A | CA392386014 | USP8 | c.723T>A (p.Asp241Glu) c.492T>A (p.Asp164Glu) n.469T>A c.*149T>A (n.*149T>A) c.336-5607T>A (n.336-5607T>A) c.*389T>A (n.*389T>A) c.153T>A (p.Asp51Glu) | |
| 15 | g.50471669T>C | CA490347154 | USP8 | c.723T>C (p.Asp241=) c.492T>C (p.Asp164=) n.469T>C c.*149T>C (n.*149T>C) c.336-5607T>C (n.336-5607T>C) c.*389T>C (n.*389T>C) c.153T>C (p.Asp51=) | |
| 15 | g.50471669T>G | CA392386015 | USP8 | c.723T>G (p.Asp241Glu) c.492T>G (p.Asp164Glu) n.469T>G c.*149T>G (n.*149T>G) c.336-5607T>G (n.336-5607T>G) c.*389T>G (n.*389T>G) c.153T>G (p.Asp51Glu) | |
| 15 | g.50471670G>A | CA392386017 | USP8 | c.724G>A (p.Asp242Asn) c.493G>A (p.Asp165Asn) n.470G>A c.*150G>A (n.*150G>A) c.336-5606G>A (n.336-5606G>A) c.*390G>A (n.*390G>A) c.154G>A (p.Asp52Asn) | |
| 15 | g.50471670G>C | CA392386019 | USP8 | c.724G>C (p.Asp242His) c.493G>C (p.Asp165His) n.470G>C c.*150G>C (n.*150G>C) c.336-5606G>C (n.336-5606G>C) c.*390G>C (n.*390G>C) c.154G>C (p.Asp52His) | |
| 15 | g.50471670G>T | CA392386022 | USP8 | c.724G>T (p.Asp242Tyr) c.493G>T (p.Asp165Tyr) n.470G>T c.*150G>T (n.*150G>T) c.336-5606G>T (n.336-5606G>T) c.*390G>T (n.*390G>T) c.154G>T (p.Asp52Tyr) | |
| 15 | g.50471671A>C | CA392386024 | USP8 | c.725A>C (p.Asp242Ala) c.494A>C (p.Asp165Ala) n.471A>C c.*151A>C (n.*151A>C) c.336-5605A>C (n.336-5605A>C) c.*391A>C (n.*391A>C) c.155A>C (p.Asp52Ala) | |
| 15 | g.50471671A>G | CA392386027 | USP8 | c.725A>G (p.Asp242Gly) c.494A>G (p.Asp165Gly) n.471A>G c.*151A>G (n.*151A>G) c.336-5605A>G (n.336-5605A>G) c.*391A>G (n.*391A>G) c.155A>G (p.Asp52Gly) | gnomAD v4 |
| 15 | g.50471671A>T | CA392386034 | USP8 | c.725A>T (p.Asp242Val) c.494A>T (p.Asp165Val) n.471A>T c.*151A>T (n.*151A>T) c.336-5605A>T (n.336-5605A>T) c.*391A>T (n.*391A>T) c.155A>T (p.Asp52Val) | |
| 15 | g.50471672T>A | CA392386036 | USP8 | c.726T>A (p.Asp242Glu) c.495T>A (p.Asp165Glu) n.472T>A c.*152T>A (n.*152T>A) c.336-5604T>A (n.336-5604T>A) c.*392T>A (n.*392T>A) c.156T>A (p.Asp52Glu) | |
| 15 | g.50471672T>C | CA490347155 | USP8 | c.726T>C (p.Asp242=) c.495T>C (p.Asp165=) n.472T>C c.*152T>C (n.*152T>C) c.336-5604T>C (n.336-5604T>C) c.*392T>C (n.*392T>C) c.156T>C (p.Asp52=) | |
| 15 | g.50471672T>G | CA392386039 | USP8 | c.726T>G (p.Asp242Glu) c.495T>G (p.Asp165Glu) n.472T>G c.*152T>G (n.*152T>G) c.336-5604T>G (n.336-5604T>G) c.*392T>G (n.*392T>G) c.156T>G (p.Asp52Glu) | dbSNP |
| 15 | g.50471672T= | CA2176416855 | USP8 | c.726T= (p.Asp242=) c.495T= (p.Asp165=) n.472T= c.*152T= (n.*152T=) c.336-5604T= (n.336-5604T=) c.*392T= (n.*392T=) c.156T= (p.Asp52=) | |
| 15 | g.50471673T>A | CA392386043 | USP8 | c.727T>A (p.Ser243Thr) c.496T>A (p.Ser166Thr) n.473T>A c.*153T>A (n.*153T>A) c.336-5603T>A (n.336-5603T>A) c.*393T>A (n.*393T>A) c.157T>A (p.Ser53Thr) | |
| 15 | g.50471673T>C | CA392386046 | USP8 | c.727T>C (p.Ser243Pro) c.496T>C (p.Ser166Pro) n.473T>C c.*153T>C (n.*153T>C) c.336-5603T>C (n.336-5603T>C) c.*393T>C (n.*393T>C) c.157T>C (p.Ser53Pro) | |
| 15 | g.50471673T>G | CA392386044 | USP8 | c.727T>G (p.Ser243Ala) c.496T>G (p.Ser166Ala) n.473T>G c.*153T>G (n.*153T>G) c.336-5603T>G (n.336-5603T>G) c.*393T>G (n.*393T>G) c.157T>G (p.Ser53Ala) | |
| 15 | g.50471674C>A | CA392386049 | USP8 | c.728C>A (p.Ser243Tyr) c.497C>A (p.Ser166Tyr) n.474C>A c.*154C>A (n.*154C>A) c.336-5602C>A (n.336-5602C>A) c.*394C>A (n.*394C>A) c.158C>A (p.Ser53Tyr) | |
| 15 | g.50471674C>G | CA392386052 | USP8 | c.728C>G (p.Ser243Cys) c.497C>G (p.Ser166Cys) n.474C>G c.*154C>G (n.*154C>G) c.336-5602C>G (n.336-5602C>G) c.*394C>G (n.*394C>G) c.158C>G (p.Ser53Cys) | |
| 15 | g.50471674C>T | CA392386060 | USP8 | c.728C>T (p.Ser243Phe) c.497C>T (p.Ser166Phe) n.474C>T c.*154C>T (n.*154C>T) c.336-5602C>T (n.336-5602C>T) c.*394C>T (n.*394C>T) c.158C>T (p.Ser53Phe) | |
| 15 | g.50471674dup | CA2628413817 | USP8 | c.728dup (p.Lys244Ter) c.497dup (p.Lys167Ter) n.474dup c.*154dup (n.*154dup) c.336-5602dup (n.336-5602dup) c.*394dup (n.*394dup) c.158dup (p.Lys54Ter) | gnomAD v4 |
| 15 | g.50471675T>A | CA490347161 | USP8 | c.729T>A (p.Ser243=) c.498T>A (p.Ser166=) n.475T>A c.*155T>A (n.*155T>A) c.336-5601T>A (n.336-5601T>A) c.*395T>A (n.*395T>A) c.159T>A (p.Ser53=) | |
| 15 | g.50471675T>C | CA490347159 | USP8 | c.729T>C (p.Ser243=) c.498T>C (p.Ser166=) n.475T>C c.*155T>C (n.*155T>C) c.336-5601T>C (n.336-5601T>C) c.*395T>C (n.*395T>C) c.159T>C (p.Ser53=) | |
| 15 | g.50471675T>G | CA490347160 | USP8 | c.729T>G (p.Ser243=) c.498T>G (p.Ser166=) n.475T>G c.*155T>G (n.*155T>G) c.336-5601T>G (n.336-5601T>G) c.*395T>G (n.*395T>G) c.159T>G (p.Ser53=) | |
| 15 | g.50471676A= | CA2176416856 | USP8 | c.730A= (p.Lys244=) c.499A= (p.Lys167=) n.476A= c.*156A= (n.*156A=) c.336-5600A= (n.336-5600A=) c.*396A= (n.*396A=) c.160A= (p.Lys54=) | |
| 15 | g.50471676A>C | CA392386062 | USP8 | c.730A>C (p.Lys244Gln) c.499A>C (p.Lys167Gln) n.476A>C c.*156A>C (n.*156A>C) c.336-5600A>C (n.336-5600A>C) c.*396A>C (n.*396A>C) c.160A>C (p.Lys54Gln) | |
| 15 | g.50471676A>G | CA392386064 | USP8 | c.730A>G (p.Lys244Glu) c.499A>G (p.Lys167Glu) n.476A>G c.*156A>G (n.*156A>G) c.336-5600A>G (n.336-5600A>G) c.*396A>G (n.*396A>G) c.160A>G (p.Lys54Glu) | dbSNP |
| 15 | g.50471676A>T | CA392386066 | USP8 | c.730A>T (p.Lys244Ter) c.499A>T (p.Lys167Ter) n.476A>T c.*156A>T (n.*156A>T) c.336-5600A>T (n.336-5600A>T) c.*396A>T (n.*396A>T) c.160A>T (p.Lys54Ter) | |
| 15 | g.50471677A= | CA2176416857 | USP8 | c.731A= (p.Lys244=) c.500A= (p.Lys167=) n.477A= c.*157A= (n.*157A=) c.336-5599A= (n.336-5599A=) c.*397A= (n.*397A=) c.161A= (p.Lys54=) | |
| 15 | g.50471677A>C | CA7555557 | USP8 | c.731A>C (p.Lys244Thr) c.500A>C (p.Lys167Thr) n.477A>C c.*157A>C (n.*157A>C) c.336-5599A>C (n.336-5599A>C) c.*397A>C (n.*397A>C) c.161A>C (p.Lys54Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50471677A>G | CA392386074 | USP8 | c.731A>G (p.Lys244Arg) c.500A>G (p.Lys167Arg) n.477A>G c.*157A>G (n.*157A>G) c.336-5599A>G (n.336-5599A>G) c.*397A>G (n.*397A>G) c.161A>G (p.Lys54Arg) | |
| 15 | g.50471677A>T | CA392386075 | USP8 | c.731A>T (p.Lys244Ile) c.500A>T (p.Lys167Ile) n.477A>T c.*157A>T (n.*157A>T) c.336-5599A>T (n.336-5599A>T) c.*397A>T (n.*397A>T) c.161A>T (p.Lys54Ile) | |
| 15 | g.50471678A>C | CA392386078 | USP8 | c.732A>C (p.Lys244Asn) c.501A>C (p.Lys167Asn) n.478A>C c.*158A>C (n.*158A>C) c.336-5598A>C (n.336-5598A>C) c.*398A>C (n.*398A>C) c.162A>C (p.Lys54Asn) | |
| 15 | g.50471678A>G | CA490347162 | USP8 | c.732A>G (p.Lys244=) c.501A>G (p.Lys167=) n.478A>G c.*158A>G (n.*158A>G) c.336-5598A>G (n.336-5598A>G) c.*398A>G (n.*398A>G) c.162A>G (p.Lys54=) | |
| 15 | g.50471678A>T | CA392386079 | USP8 | c.732A>T (p.Lys244Asn) c.501A>T (p.Lys167Asn) n.478A>T c.*158A>T (n.*158A>T) c.336-5598A>T (n.336-5598A>T) c.*398A>T (n.*398A>T) c.162A>T (p.Lys54Asn) | |
| 15 | g.50471679G>A | CA270485979 | USP8 | c.733G>A (p.Asp245Asn) c.502G>A (p.Asp168Asn) n.479G>A c.*159G>A (n.*159G>A) c.336-5597G>A (n.336-5597G>A) c.*399G>A (n.*399G>A) c.163G>A (p.Asp55Asn) | dbSNP |
| 15 | g.50471679G>C | CA392386080 | USP8 | c.733G>C (p.Asp245His) c.502G>C (p.Asp168His) n.479G>C c.*159G>C (n.*159G>C) c.336-5597G>C (n.336-5597G>C) c.*399G>C (n.*399G>C) c.163G>C (p.Asp55His) | |
| 15 | g.50471679G= | CA2176416858 | USP8 | c.733G= (p.Asp245=) c.502G= (p.Asp168=) n.479G= c.*159G= (n.*159G=) c.336-5597G= (n.336-5597G=) c.*399G= (n.*399G=) c.163G= (p.Asp55=) | |
| 15 | g.50471679G>T | CA392386081 | USP8 | c.733G>T (p.Asp245Tyr) c.502G>T (p.Asp168Tyr) n.479G>T c.*159G>T (n.*159G>T) c.336-5597G>T (n.336-5597G>T) c.*399G>T (n.*399G>T) c.163G>T (p.Asp55Tyr) | |
| 15 | g.50471680A>C | CA392386087 | USP8 | c.734A>C (p.Asp245Ala) c.503A>C (p.Asp168Ala) n.480A>C c.*160A>C (n.*160A>C) c.336-5596A>C (n.336-5596A>C) c.*400A>C (n.*400A>C) c.164A>C (p.Asp55Ala) | |
| 15 | g.50471680A>G | CA392386086 | USP8 | c.734A>G (p.Asp245Gly) c.503A>G (p.Asp168Gly) n.480A>G c.*160A>G (n.*160A>G) c.336-5596A>G (n.336-5596A>G) c.*400A>G (n.*400A>G) c.164A>G (p.Asp55Gly) | |
| 15 | g.50471680A>T | CA392386084 | USP8 | c.734A>T (p.Asp245Val) c.503A>T (p.Asp168Val) n.480A>T c.*160A>T (n.*160A>T) c.336-5596A>T (n.336-5596A>T) c.*400A>T (n.*400A>T) c.164A>T (p.Asp55Val) | |
| 15 | g.50471681C>A | CA392386089 | USP8 | c.735C>A (p.Asp245Glu) c.504C>A (p.Asp168Glu) n.481C>A c.*161C>A (n.*161C>A) c.336-5595C>A (n.336-5595C>A) c.*401C>A (n.*401C>A) c.165C>A (p.Asp55Glu) | |
| 15 | g.50471681C= | CA2176416859 | USP8 | c.735C= (p.Asp245=) c.504C= (p.Asp168=) n.481C= c.*161C= (n.*161C=) c.336-5595C= (n.336-5595C=) c.*401C= (n.*401C=) c.165C= (p.Asp55=) | |
| 15 | g.50471681C>G | CA392386091 | USP8 | c.735C>G (p.Asp245Glu) c.504C>G (p.Asp168Glu) n.481C>G c.*161C>G (n.*161C>G) c.336-5595C>G (n.336-5595C>G) c.*401C>G (n.*401C>G) c.165C>G (p.Asp55Glu) | dbSNP gnomAD v2 |
| 15 | g.50471681C>T | CA490347163 | USP8 | c.735C>T (p.Asp245=) c.504C>T (p.Asp168=) n.481C>T c.*161C>T (n.*161C>T) c.336-5595C>T (n.336-5595C>T) c.*401C>T (n.*401C>T) c.165C>T (p.Asp55=) | gnomAD v4 |
| 15 | g.50471682A>C | CA392386094 | USP8 | c.736A>C (p.Thr246Pro) c.505A>C (p.Thr169Pro) n.482A>C c.*162A>C (n.*162A>C) c.336-5594A>C (n.336-5594A>C) c.*402A>C (n.*402A>C) c.166A>C (p.Thr56Pro) | |
| 15 | g.50471682A>G | CA392386097 | USP8 | c.736A>G (p.Thr246Ala) c.505A>G (p.Thr169Ala) n.482A>G c.*162A>G (n.*162A>G) c.336-5594A>G (n.336-5594A>G) c.*402A>G (n.*402A>G) c.166A>G (p.Thr56Ala) | |
| 15 | g.50471682A>T | CA392386100 | USP8 | c.736A>T (p.Thr246Ser) c.505A>T (p.Thr169Ser) n.482A>T c.*162A>T (n.*162A>T) c.336-5594A>T (n.336-5594A>T) c.*402A>T (n.*402A>T) c.166A>T (p.Thr56Ser) | |
| 15 | g.50471683C>A | CA392386105 | USP8 | c.737C>A (p.Thr246Lys) c.506C>A (p.Thr169Lys) n.483C>A c.*163C>A (n.*163C>A) c.336-5593C>A (n.336-5593C>A) c.*403C>A (n.*403C>A) c.167C>A (p.Thr56Lys) | |
| 15 | g.50471683C>G | CA392386113 | USP8 | c.737C>G (p.Thr246Arg) c.506C>G (p.Thr169Arg) n.483C>G c.*163C>G (n.*163C>G) c.336-5593C>G (n.336-5593C>G) c.*403C>G (n.*403C>G) c.167C>G (p.Thr56Arg) | |
| 15 | g.50471683C>T | CA392386114 | USP8 | c.737C>T (p.Thr246Ile) c.506C>T (p.Thr169Ile) n.483C>T c.*163C>T (n.*163C>T) c.336-5593C>T (n.336-5593C>T) c.*403C>T (n.*403C>T) c.167C>T (p.Thr56Ile) | |
| 15 | g.50471684A= | CA2176416860 | USP8 | c.738A= (p.Thr246=) c.507A= (p.Thr169=) n.484A= c.*164A= (n.*164A=) c.336-5592A= (n.336-5592A=) c.*404A= (n.*404A=) c.168A= (p.Thr56=) | |
| 15 | g.50471684A>C | CA490347164 | USP8 | c.738A>C (p.Thr246=) c.507A>C (p.Thr169=) n.484A>C c.*164A>C (n.*164A>C) c.336-5592A>C (n.336-5592A>C) c.*404A>C (n.*404A>C) c.168A>C (p.Thr56=) | |
| 15 | g.50471684A>G | CA490347165 | USP8 | c.738A>G (p.Thr246=) c.507A>G (p.Thr169=) n.484A>G c.*164A>G (n.*164A>G) c.336-5592A>G (n.336-5592A>G) c.*404A>G (n.*404A>G) c.168A>G (p.Thr56=) | dbSNP gnomAD v4 |
| 15 | g.50471684A>T | CA490347166 | USP8 | c.738A>T (p.Thr246=) c.507A>T (p.Thr169=) n.484A>T c.*164A>T (n.*164A>T) c.336-5592A>T (n.336-5592A>T) c.*404A>T (n.*404A>T) c.168A>T (p.Thr56=) | dbSNP |
| 15 | g.50471685T>A | CA392386115 | USP8 | c.739T>A (p.Trp247Arg) c.508T>A (p.Trp170Arg) n.485T>A c.*165T>A (n.*165T>A) c.336-5591T>A (n.336-5591T>A) c.*405T>A (n.*405T>A) c.169T>A (p.Trp57Arg) | |
| 15 | g.50471685T>C | CA392386116 | USP8 | c.739T>C (p.Trp247Arg) c.508T>C (p.Trp170Arg) n.485T>C c.*165T>C (n.*165T>C) c.336-5591T>C (n.336-5591T>C) c.*405T>C (n.*405T>C) c.169T>C (p.Trp57Arg) | |
| 15 | g.50471685T>G | CA392386117 | USP8 | c.739T>G (p.Trp247Gly) c.508T>G (p.Trp170Gly) n.485T>G c.*165T>G (n.*165T>G) c.336-5591T>G (n.336-5591T>G) c.*405T>G (n.*405T>G) c.169T>G (p.Trp57Gly) | |
| 15 | g.50471686G>A | CA392386118 | USP8 | c.740G>A (p.Trp247Ter) c.509G>A (p.Trp170Ter) n.486G>A c.*166G>A (n.*166G>A) c.336-5590G>A (n.336-5590G>A) c.*406G>A (n.*406G>A) c.170G>A (p.Trp57Ter) | |
| 15 | g.50471686G>C | CA392386119 | USP8 | c.740G>C (p.Trp247Ser) c.509G>C (p.Trp170Ser) n.486G>C c.*166G>C (n.*166G>C) c.336-5590G>C (n.336-5590G>C) c.*406G>C (n.*406G>C) c.170G>C (p.Trp57Ser) | |
| 15 | g.50471686G>T | CA392386120 | USP8 | c.740G>T (p.Trp247Leu) c.509G>T (p.Trp170Leu) n.486G>T c.*166G>T (n.*166G>T) c.336-5590G>T (n.336-5590G>T) c.*406G>T (n.*406G>T) c.170G>T (p.Trp57Leu) | |
| 15 | g.50471687G>A | CA392386124 | USP8 | c.741G>A (p.Trp247Ter) c.510G>A (p.Trp170Ter) n.487G>A c.*167G>A (n.*167G>A) c.336-5589G>A (n.336-5589G>A) c.*407G>A (n.*407G>A) c.171G>A (p.Trp57Ter) | |
| 15 | g.50471687G>C | CA392386125 | USP8 | c.741G>C (p.Trp247Cys) c.510G>C (p.Trp170Cys) n.487G>C c.*167G>C (n.*167G>C) c.336-5589G>C (n.336-5589G>C) c.*407G>C (n.*407G>C) c.171G>C (p.Trp57Cys) | |
| 15 | g.50471687G>T | CA392386122 | USP8 | c.741G>T (p.Trp247Cys) c.510G>T (p.Trp170Cys) n.487G>T c.*167G>T (n.*167G>T) c.336-5589G>T (n.336-5589G>T) c.*407G>T (n.*407G>T) c.171G>T (p.Trp57Cys) | |
| 15 | g.50471688A>C | CA392386127 | USP8 | c.742A>C (p.Lys248Gln) c.511A>C (p.Lys171Gln) n.488A>C c.*168A>C (n.*168A>C) c.336-5588A>C (n.336-5588A>C) c.*408A>C (n.*408A>C) c.172A>C (p.Lys58Gln) | |
| 15 | g.50471688A>G | CA392386128 | USP8 | c.742A>G (p.Lys248Glu) c.511A>G (p.Lys171Glu) n.488A>G c.*168A>G (n.*168A>G) c.336-5588A>G (n.336-5588A>G) c.*408A>G (n.*408A>G) c.172A>G (p.Lys58Glu) | |
| 15 | g.50471688A>T | CA392386131 | USP8 | c.742A>T (p.Lys248Ter) c.511A>T (p.Lys171Ter) n.488A>T c.*168A>T (n.*168A>T) c.336-5588A>T (n.336-5588A>T) c.*408A>T (n.*408A>T) c.172A>T (p.Lys58Ter) | |
| 15 | g.50471689A>C | CA392386463 | USP8 | c.743A>C (p.Lys248Thr) c.512A>C (p.Lys171Thr) n.489A>C c.*169A>C (n.*169A>C) c.336-5587A>C (n.336-5587A>C) c.*409A>C (n.*409A>C) c.173A>C (p.Lys58Thr) | |
| 15 | g.50471689A>G | CA392386466 | USP8 | c.743A>G (p.Lys248Arg) c.512A>G (p.Lys171Arg) n.489A>G c.*169A>G (n.*169A>G) c.336-5587A>G (n.336-5587A>G) c.*409A>G (n.*409A>G) c.173A>G (p.Lys58Arg) | |
| 15 | g.50471689A>T | CA392386468 | USP8 | c.743A>T (p.Lys248Met) c.512A>T (p.Lys171Met) n.489A>T c.*169A>T (n.*169A>T) c.336-5587A>T (n.336-5587A>T) c.*409A>T (n.*409A>T) c.173A>T (p.Lys58Met) | |
| 15 | g.50471690G>A | CA490347566 | USP8 | c.744G>A (p.Lys248=) c.513G>A (p.Lys171=) n.490G>A c.*170G>A (n.*170G>A) c.336-5586G>A (n.336-5586G>A) c.*410G>A (n.*410G>A) c.174G>A (p.Lys58=) | |
| 15 | g.50471690G>C | CA392386470 | USP8 | c.744G>C (p.Lys248Asn) c.513G>C (p.Lys171Asn) n.490G>C c.*170G>C (n.*170G>C) c.336-5586G>C (n.336-5586G>C) c.*410G>C (n.*410G>C) c.174G>C (p.Lys58Asn) | |
| 15 | g.50471690G>T | CA392386471 | USP8 | c.744G>T (p.Lys248Asn) c.513G>T (p.Lys171Asn) n.490G>T c.*170G>T (n.*170G>T) c.336-5586G>T (n.336-5586G>T) c.*410G>T (n.*410G>T) c.174G>T (p.Lys58Asn) | |
| 15 | g.50471691A>C | CA392386473 | USP8 | c.745A>C (p.Lys249Gln) c.514A>C (p.Lys172Gln) n.491A>C c.*171A>C (n.*171A>C) c.336-5585A>C (n.336-5585A>C) c.*411A>C (n.*411A>C) c.175A>C (p.Lys59Gln) | |
| 15 | g.50471691A>G | CA392386474 | USP8 | c.745A>G (p.Lys249Glu) c.514A>G (p.Lys172Glu) n.491A>G c.*171A>G (n.*171A>G) c.336-5585A>G (n.336-5585A>G) c.*411A>G (n.*411A>G) c.175A>G (p.Lys59Glu) | |
| 15 | g.50471691A>T | CA392386476 | USP8 | c.745A>T (p.Lys249Ter) c.514A>T (p.Lys172Ter) n.491A>T c.*171A>T (n.*171A>T) c.336-5585A>T (n.336-5585A>T) c.*411A>T (n.*411A>T) c.175A>T (p.Lys59Ter) | |
| 15 | g.50471692A>C | CA392386481 | USP8 | c.746A>C (p.Lys249Thr) c.515A>C (p.Lys172Thr) n.492A>C c.*172A>C (n.*172A>C) c.336-5584A>C (n.336-5584A>C) c.*412A>C (n.*412A>C) c.176A>C (p.Lys59Thr) | |
| 15 | g.50471692A>G | CA392386483 | USP8 | c.746A>G (p.Lys249Arg) c.515A>G (p.Lys172Arg) n.492A>G c.*172A>G (n.*172A>G) c.336-5584A>G (n.336-5584A>G) c.*412A>G (n.*412A>G) c.176A>G (p.Lys59Arg) | |
| 15 | g.50471692A>T | CA392386486 | USP8 | c.746A>T (p.Lys249Met) c.515A>T (p.Lys172Met) n.492A>T c.*172A>T (n.*172A>T) c.336-5584A>T (n.336-5584A>T) c.*412A>T (n.*412A>T) c.176A>T (p.Lys59Met) | |
| 15 | g.50471693G>A | CA490347604 | USP8 | c.747G>A (p.Lys249=) c.516G>A (p.Lys172=) n.493G>A c.*173G>A (n.*173G>A) c.336-5583G>A (n.336-5583G>A) c.*413G>A (n.*413G>A) c.177G>A (p.Lys59=) | gnomAD v4 |
| 15 | g.50471693G>C | CA392386491 | USP8 | c.747G>C (p.Lys249Asn) c.516G>C (p.Lys172Asn) n.493G>C c.*173G>C (n.*173G>C) c.336-5583G>C (n.336-5583G>C) c.*413G>C (n.*413G>C) c.177G>C (p.Lys59Asn) | |
| 15 | g.50471693G>T | CA392386492 | USP8 | c.747G>T (p.Lys249Asn) c.516G>T (p.Lys172Asn) n.493G>T c.*173G>T (n.*173G>T) c.336-5583G>T (n.336-5583G>T) c.*413G>T (n.*413G>T) c.177G>T (p.Lys59Asn) | |
| 15 | g.50471694A= | CA2176416861 | USP8 | c.748A= (p.Arg250=) c.517A= (p.Arg173=) n.494A= c.*174A= (n.*174A=) c.336-5582A= (n.336-5582A=) c.*414A= (n.*414A=) c.178A= (p.Arg60=) | |
| 15 | g.50471694A>C | CA7555558 | USP8 | c.748A>C (p.Arg250=) c.517A>C (p.Arg173=) n.494A>C c.*174A>C (n.*174A>C) c.336-5582A>C (n.336-5582A>C) c.*414A>C (n.*414A>C) c.178A>C (p.Arg60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50471694A>G | CA392386494 | USP8 | c.748A>G (p.Arg250Gly) c.517A>G (p.Arg173Gly) n.494A>G c.*174A>G (n.*174A>G) c.336-5582A>G (n.336-5582A>G) c.*414A>G (n.*414A>G) c.178A>G (p.Arg60Gly) | |
| 15 | g.50471694A>T | CA392386496 | USP8 | c.748A>T (p.Arg250Trp) c.517A>T (p.Arg173Trp) n.494A>T c.*174A>T (n.*174A>T) c.336-5582A>T (n.336-5582A>T) c.*414A>T (n.*414A>T) c.178A>T (p.Arg60Trp) | gnomAD v4 |
| 15 | g.50471695G>A | CA392386508 | USP8 | c.749G>A (p.Arg250Lys) c.518G>A (p.Arg173Lys) n.495G>A c.*175G>A (n.*175G>A) c.336-5581G>A (n.336-5581G>A) c.*415G>A (n.*415G>A) c.179G>A (p.Arg60Lys) | |
| 15 | g.50471695G>C | CA392386511 | USP8 | c.749G>C (p.Arg250Thr) c.518G>C (p.Arg173Thr) n.495G>C c.*175G>C (n.*175G>C) c.336-5581G>C (n.336-5581G>C) c.*415G>C (n.*415G>C) c.179G>C (p.Arg60Thr) | dbSNP gnomAD v4 |
| 15 | g.50471695G= | CA2176416862 | USP8 | c.749G= (p.Arg250=) c.518G= (p.Arg173=) n.495G= c.*175G= (n.*175G=) c.336-5581G= (n.336-5581G=) c.*415G= (n.*415G=) c.179G= (p.Arg60=) | |
| 15 | g.50471695G>T | CA392386514 | USP8 | c.749G>T (p.Arg250Met) c.518G>T (p.Arg173Met) n.495G>T c.*175G>T (n.*175G>T) c.336-5581G>T (n.336-5581G>T) c.*415G>T (n.*415G>T) c.179G>T (p.Arg60Met) | |
| 15 | g.50471699del | CA2628413818 | USP8 | c.753del (p.Asn252MetfsTer26) c.522del (p.Asn175MetfsTer26) n.499del c.*179del (n.*179del) c.336-5577del (n.336-5577del) c.*419del (n.*419del) c.183del (p.Asn62MetfsTer26) | gnomAD v4 |
| 15 | g.50471696G>A | CA490347634 | USP8 | c.750G>A (p.Arg250=) c.519G>A (p.Arg173=) n.496G>A c.*176G>A (n.*176G>A) c.336-5580G>A (n.336-5580G>A) c.*416G>A (n.*416G>A) c.180G>A (p.Arg60=) | gnomAD v4 |
| 15 | g.50471696G>C | CA392386519 | USP8 | c.750G>C (p.Arg250Ser) c.519G>C (p.Arg173Ser) n.496G>C c.*176G>C (n.*176G>C) c.336-5580G>C (n.336-5580G>C) c.*416G>C (n.*416G>C) c.180G>C (p.Arg60Ser) | |
| 15 | g.50471696G>T | CA392386520 | USP8 | c.750G>T (p.Arg250Ser) c.519G>T (p.Arg173Ser) n.496G>T c.*176G>T (n.*176G>T) c.336-5580G>T (n.336-5580G>T) c.*416G>T (n.*416G>T) c.180G>T (p.Arg60Ser) | |
| 15 | g.50471697G>A | CA392386524 | USP8 | c.751G>A (p.Gly251Arg) c.520G>A (p.Gly174Arg) n.497G>A c.*177G>A (n.*177G>A) c.336-5579G>A (n.336-5579G>A) c.*417G>A (n.*417G>A) c.181G>A (p.Gly61Arg) | |
| 15 | g.50471697G>C | CA392386527 | USP8 | c.751G>C (p.Gly251Arg) c.520G>C (p.Gly174Arg) n.497G>C c.*177G>C (n.*177G>C) c.336-5579G>C (n.336-5579G>C) c.*417G>C (n.*417G>C) c.181G>C (p.Gly61Arg) | gnomAD v4 |
| 15 | g.50471697G>T | CA392386532 | USP8 | c.751G>T (p.Gly251Trp) c.520G>T (p.Gly174Trp) n.497G>T c.*177G>T (n.*177G>T) c.336-5579G>T (n.336-5579G>T) c.*417G>T (n.*417G>T) c.181G>T (p.Gly61Trp) | |
| 15 | g.50471698G>A | CA392386538 | USP8 | c.752G>A (p.Gly251Glu) c.521G>A (p.Gly174Glu) n.498G>A c.*178G>A (n.*178G>A) c.336-5578G>A (n.336-5578G>A) c.*418G>A (n.*418G>A) c.182G>A (p.Gly61Glu) | |
| 15 | g.50471698G>C | CA392386543 | USP8 | c.752G>C (p.Gly251Ala) c.521G>C (p.Gly174Ala) n.498G>C c.*178G>C (n.*178G>C) c.336-5578G>C (n.336-5578G>C) c.*418G>C (n.*418G>C) c.182G>C (p.Gly61Ala) | |
| 15 | g.50471698G>T | CA392386541 | USP8 | c.752G>T (p.Gly251Val) c.521G>T (p.Gly174Val) n.498G>T c.*178G>T (n.*178G>T) c.336-5578G>T (n.336-5578G>T) c.*418G>T (n.*418G>T) c.182G>T (p.Gly61Val) | |
| 15 | g.50471699G>A | CA490347655 | USP8 | c.753G>A (p.Gly251=) c.522G>A (p.Gly174=) n.499G>A c.*179G>A (n.*179G>A) c.336-5577G>A (n.336-5577G>A) c.*419G>A (n.*419G>A) c.183G>A (p.Gly61=) | |
| 15 | g.50471699G>C | CA490347658 | USP8 | c.753G>C (p.Gly251=) c.522G>C (p.Gly174=) n.499G>C c.*179G>C (n.*179G>C) c.336-5577G>C (n.336-5577G>C) c.*419G>C (n.*419G>C) c.183G>C (p.Gly61=) | |
| 15 | g.50471699G>T | CA490347661 | USP8 | c.753G>T (p.Gly251=) c.522G>T (p.Gly174=) n.499G>T c.*179G>T (n.*179G>T) c.336-5577G>T (n.336-5577G>T) c.*419G>T (n.*419G>T) c.183G>T (p.Gly61=) | |
| 15 | g.50471700A>C | CA392386544 | USP8 | c.754A>C (p.Asn252His) c.523A>C (p.Asn175His) n.500A>C c.*180A>C (n.*180A>C) c.336-5576A>C (n.336-5576A>C) c.*420A>C (n.*420A>C) c.184A>C (p.Asn62His) | |
| 15 | g.50471700A>G | CA392386546 | USP8 | c.754A>G (p.Asn252Asp) c.523A>G (p.Asn175Asp) n.500A>G c.*180A>G (n.*180A>G) c.336-5576A>G (n.336-5576A>G) c.*420A>G (n.*420A>G) c.184A>G (p.Asn62Asp) | |
| 15 | g.50471700A>T | CA392386545 | USP8 | c.754A>T (p.Asn252Tyr) c.523A>T (p.Asn175Tyr) n.500A>T c.*180A>T (n.*180A>T) c.336-5576A>T (n.336-5576A>T) c.*420A>T (n.*420A>T) c.184A>T (p.Asn62Tyr) | |
| 15 | g.50471701A= | CA2176416863 | USP8 | c.755A= (p.Asn252=) c.524A= (p.Asn175=) n.501A= c.*181A= (n.*181A=) c.336-5575A= (n.336-5575A=) c.*421A= (n.*421A=) c.185A= (p.Asn62=) | |
| 15 | g.50471701A>C | CA392386547 | USP8 | c.755A>C (p.Asn252Thr) c.524A>C (p.Asn175Thr) n.501A>C c.*181A>C (n.*181A>C) c.336-5575A>C (n.336-5575A>C) c.*421A>C (n.*421A>C) c.185A>C (p.Asn62Thr) | |
| 15 | g.50471701A>G | CA7555559 | USP8 | c.755A>G (p.Asn252Ser) c.524A>G (p.Asn175Ser) n.501A>G c.*181A>G (n.*181A>G) c.336-5575A>G (n.336-5575A>G) c.*421A>G (n.*421A>G) c.185A>G (p.Asn62Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50471701A>T | CA392386551 | USP8 | c.755A>T (p.Asn252Ile) c.524A>T (p.Asn175Ile) n.501A>T c.*181A>T (n.*181A>T) c.336-5575A>T (n.336-5575A>T) c.*421A>T (n.*421A>T) c.185A>T (p.Asn62Ile) | |
| 15 | g.50471702T>A | CA392386555 | USP8 | c.756T>A (p.Asn252Lys) c.525T>A (p.Asn175Lys) n.502T>A c.*182T>A (n.*182T>A) c.336-5574T>A (n.336-5574T>A) c.*422T>A (n.*422T>A) c.186T>A (p.Asn62Lys) | |
| 15 | g.50471702T>C | CA7555560 | USP8 | c.756T>C (p.Asn252=) c.525T>C (p.Asn175=) n.502T>C c.*182T>C (n.*182T>C) c.336-5574T>C (n.336-5574T>C) c.*422T>C (n.*422T>C) c.186T>C (p.Asn62=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50471702T>G | CA392386557 | USP8 | c.756T>G (p.Asn252Lys) c.525T>G (p.Asn175Lys) n.502T>G c.*182T>G (n.*182T>G) c.336-5574T>G (n.336-5574T>G) c.*422T>G (n.*422T>G) c.186T>G (p.Asn62Lys) | |
| 15 | g.50471702T= | CA2176416864 | USP8 | c.756T= (p.Asn252=) c.525T= (p.Asn175=) n.502T= c.*182T= (n.*182T=) c.336-5574T= (n.336-5574T=) c.*422T= (n.*422T=) c.186T= (p.Asn62=) | |
| 15 | g.50471703G>A | CA392386560 | USP8 | c.757G>A (p.Val253Met) c.526G>A (p.Val176Met) n.503G>A c.*183G>A (n.*183G>A) c.336-5573G>A (n.336-5573G>A) c.*423G>A (n.*423G>A) c.187G>A (p.Val63Met) | gnomAD v4 |
| 15 | g.50471703G>C | CA392386563 | USP8 | c.757G>C (p.Val253Leu) c.526G>C (p.Val176Leu) n.503G>C c.*183G>C (n.*183G>C) c.336-5573G>C (n.336-5573G>C) c.*423G>C (n.*423G>C) c.187G>C (p.Val63Leu) | gnomAD v4 |
| 15 | g.50471703G>T | CA392386565 | USP8 | c.757G>T (p.Val253Leu) c.526G>T (p.Val176Leu) n.503G>T c.*183G>T (n.*183G>T) c.336-5573G>T (n.336-5573G>T) c.*423G>T (n.*423G>T) c.187G>T (p.Val63Leu) | |
| 15 | g.50471704T>A | CA392386566 | USP8 | c.758T>A (p.Val253Glu) c.527T>A (p.Val176Glu) n.504T>A c.*184T>A (n.*184T>A) c.336-5572T>A (n.336-5572T>A) c.*424T>A (n.*424T>A) c.188T>A (p.Val63Glu) | |
| 15 | g.50471704T>C | CA392386568 | USP8 | c.758T>C (p.Val253Ala) c.527T>C (p.Val176Ala) n.504T>C c.*184T>C (n.*184T>C) c.336-5572T>C (n.336-5572T>C) c.*424T>C (n.*424T>C) c.188T>C (p.Val63Ala) | gnomAD v4 |
| 15 | g.50471704T>G | CA392386571 | USP8 | c.758T>G (p.Val253Gly) c.527T>G (p.Val176Gly) n.504T>G c.*184T>G (n.*184T>G) c.336-5572T>G (n.336-5572T>G) c.*424T>G (n.*424T>G) c.188T>G (p.Val63Gly) | gnomAD v4 |
| 15 | g.50471705G>A | CA490347718 | USP8 | c.759G>A (p.Val253=) c.528G>A (p.Val176=) n.505G>A c.*185G>A (n.*185G>A) c.336-5571G>A (n.336-5571G>A) c.*425G>A (n.*425G>A) c.189G>A (p.Val63=) | |
| 15 | g.50471705G>C | CA490347720 | USP8 | c.759G>C (p.Val253=) c.528G>C (p.Val176=) n.505G>C c.*185G>C (n.*185G>C) c.336-5571G>C (n.336-5571G>C) c.*425G>C (n.*425G>C) c.189G>C (p.Val63=) | |
| 15 | g.50471705G>T | CA490347723 | USP8 | c.759G>T (p.Val253=) c.528G>T (p.Val176=) n.505G>T c.*185G>T (n.*185G>T) c.336-5571G>T (n.336-5571G>T) c.*425G>T (n.*425G>T) c.189G>T (p.Val63=) | |
| 15 | g.50471706G>A | CA392386575 | USP8 | c.760G>A (p.Glu254Lys) c.529G>A (p.Glu177Lys) n.506G>A c.*186G>A (n.*186G>A) c.336-5570G>A (n.336-5570G>A) c.*426G>A (n.*426G>A) c.190G>A (p.Glu64Lys) | |
| 15 | g.50471706G>C | CA392386579 | USP8 | c.760G>C (p.Glu254Gln) c.529G>C (p.Glu177Gln) n.506G>C c.*186G>C (n.*186G>C) c.336-5570G>C (n.336-5570G>C) c.*426G>C (n.*426G>C) c.190G>C (p.Glu64Gln) | |
| 15 | g.50471706G>T | CA392386577 | USP8 | c.760G>T (p.Glu254Ter) c.529G>T (p.Glu177Ter) n.506G>T c.*186G>T (n.*186G>T) c.336-5570G>T (n.336-5570G>T) c.*426G>T (n.*426G>T) c.190G>T (p.Glu64Ter) | |
| 15 | g.50471707A>C | CA392386580 | USP8 | c.761A>C (p.Glu254Ala) c.530A>C (p.Glu177Ala) n.507A>C c.*187A>C (n.*187A>C) c.336-5569A>C (n.336-5569A>C) c.*427A>C (n.*427A>C) c.191A>C (p.Glu64Ala) | |
| 15 | g.50471707A>G | CA392386582 | USP8 | c.761A>G (p.Glu254Gly) c.530A>G (p.Glu177Gly) n.507A>G c.*187A>G (n.*187A>G) c.336-5569A>G (n.336-5569A>G) c.*427A>G (n.*427A>G) c.191A>G (p.Glu64Gly) | |
| 15 | g.50471707A>T | CA392386585 | USP8 | c.761A>T (p.Glu254Val) c.530A>T (p.Glu177Val) n.507A>T c.*187A>T (n.*187A>T) c.336-5569A>T (n.336-5569A>T) c.*427A>T (n.*427A>T) c.191A>T (p.Glu64Val) | |
| 15 | g.50471708G>A | CA7555561 | USP8 | c.762G>A (p.Glu254=) c.531G>A (p.Glu177=) n.508G>A c.*188G>A (n.*188G>A) c.336-5568G>A (n.336-5568G>A) c.*428G>A (n.*428G>A) c.192G>A (p.Glu64=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50471708G>C | CA392386588 | USP8 | c.762G>C (p.Glu254Asp) c.531G>C (p.Glu177Asp) n.508G>C c.*188G>C (n.*188G>C) c.336-5568G>C (n.336-5568G>C) c.*428G>C (n.*428G>C) c.192G>C (p.Glu64Asp) | |
| 15 | g.50471708G= | CA2176416865 | USP8 | c.762G= (p.Glu254=) c.531G= (p.Glu177=) n.508G= c.*188G= (n.*188G=) c.336-5568G= (n.336-5568G=) c.*428G= (n.*428G=) c.192G= (p.Glu64=) | |
| 15 | g.50471708G>T | CA392386592 | USP8 | c.762G>T (p.Glu254Asp) c.531G>T (p.Glu177Asp) n.508G>T c.*188G>T (n.*188G>T) c.336-5568G>T (n.336-5568G>T) c.*428G>T (n.*428G>T) c.192G>T (p.Glu64Asp) | |
| 15 | g.50471709T>A | CA392386594 | USP8 | c.763T>A (p.Tyr255Asn) c.532T>A (p.Tyr178Asn) n.509T>A c.*189T>A (n.*189T>A) c.336-5567T>A (n.336-5567T>A) c.*429T>A (n.*429T>A) c.193T>A (p.Tyr65Asn) | |
| 15 | g.50471709T>C | CA392386596 | USP8 | c.763T>C (p.Tyr255His) c.532T>C (p.Tyr178His) n.509T>C c.*189T>C (n.*189T>C) c.336-5567T>C (n.336-5567T>C) c.*429T>C (n.*429T>C) c.193T>C (p.Tyr65His) | |
| 15 | g.50471709T>G | CA392386598 | USP8 | c.763T>G (p.Tyr255Asp) c.532T>G (p.Tyr178Asp) n.509T>G c.*189T>G (n.*189T>G) c.336-5567T>G (n.336-5567T>G) c.*429T>G (n.*429T>G) c.193T>G (p.Tyr65Asp) | |
| 15 | g.50471710A= | CA2176416866 | USP8 | c.764A= (p.Tyr255=) c.533A= (p.Tyr178=) n.510A= c.*190A= (n.*190A=) c.336-5566A= (n.336-5566A=) c.*430A= (n.*430A=) c.194A= (p.Tyr65=) | |
| 15 | g.50471710A>C | CA392386605 | USP8 | c.764A>C (p.Tyr255Ser) c.533A>C (p.Tyr178Ser) n.510A>C c.*190A>C (n.*190A>C) c.336-5566A>C (n.336-5566A>C) c.*430A>C (n.*430A>C) c.194A>C (p.Tyr65Ser) | |
| 15 | g.50471710A>G | CA7555563 | USP8 | c.764A>G (p.Tyr255Cys) c.533A>G (p.Tyr178Cys) n.510A>G c.*190A>G (n.*190A>G) c.336-5566A>G (n.336-5566A>G) c.*430A>G (n.*430A>G) c.194A>G (p.Tyr65Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50471710A>T | CA7555562 | USP8 | c.764A>T (p.Tyr255Phe) c.533A>T (p.Tyr178Phe) n.510A>T c.*190A>T (n.*190A>T) c.336-5566A>T (n.336-5566A>T) c.*430A>T (n.*430A>T) c.194A>T (p.Tyr65Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50471711T>A | CA392386608 | USP8 | c.765T>A (p.Tyr255Ter) c.534T>A (p.Tyr178Ter) n.511T>A c.*191T>A (n.*191T>A) c.336-5565T>A (n.336-5565T>A) c.*431T>A (n.*431T>A) c.195T>A (p.Tyr65Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50471711T>C | CA490347770 | USP8 | c.765T>C (p.Tyr255=) c.534T>C (p.Tyr178=) n.511T>C c.*191T>C (n.*191T>C) c.336-5565T>C (n.336-5565T>C) c.*431T>C (n.*431T>C) c.195T>C (p.Tyr65=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50471711T>G | CA392386610 | USP8 | c.765T>G (p.Tyr255Ter) c.534T>G (p.Tyr178Ter) n.511T>G c.*191T>G (n.*191T>G) c.336-5565T>G (n.336-5565T>G) c.*431T>G (n.*431T>G) c.195T>G (p.Tyr65Ter) | |
| 15 | g.50471711T= | CA2176416867 | USP8 | c.765T= (p.Tyr255=) c.534T= (p.Tyr178=) n.511T= c.*191T= (n.*191T=) c.336-5565T= (n.336-5565T=) c.*431T= (n.*431T=) c.195T= (p.Tyr65=) | |
| 15 | g.50471712G>A | CA270486009 | USP8 | c.766G>A (p.Val256Met) c.535G>A (p.Val179Met) n.512G>A c.*192G>A (n.*192G>A) c.336-5564G>A (n.336-5564G>A) c.*432G>A (n.*432G>A) c.196G>A (p.Val66Met) | dbSNP |
| 15 | g.50471712G>C | CA392386614 | USP8 | c.766G>C (p.Val256Leu) c.535G>C (p.Val179Leu) n.512G>C c.*192G>C (n.*192G>C) c.336-5564G>C (n.336-5564G>C) c.*432G>C (n.*432G>C) c.196G>C (p.Val66Leu) | |
| 15 | g.50471712G= | CA2176416868 | USP8 | c.766G= (p.Val256=) c.535G= (p.Val179=) n.512G= c.*192G= (n.*192G=) c.336-5564G= (n.336-5564G=) c.*432G= (n.*432G=) c.196G= (p.Val66=) | |
| 15 | g.50471712G>T | CA392386617 | USP8 | c.766G>T (p.Val256Leu) c.535G>T (p.Val179Leu) n.512G>T c.*192G>T (n.*192G>T) c.336-5564G>T (n.336-5564G>T) c.*432G>T (n.*432G>T) c.196G>T (p.Val66Leu) | |
| 15 | g.50471713T>A | CA392386621 | USP8 | c.767T>A (p.Val256Glu) c.536T>A (p.Val179Glu) n.513T>A c.*193T>A (n.*193T>A) c.336-5563T>A (n.336-5563T>A) c.*433T>A (n.*433T>A) c.197T>A (p.Val66Glu) | |
| 15 | g.50471713T>C | CA392386623 | USP8 | c.767T>C (p.Val256Ala) c.536T>C (p.Val179Ala) n.513T>C c.*193T>C (n.*193T>C) c.336-5563T>C (n.336-5563T>C) c.*433T>C (n.*433T>C) c.197T>C (p.Val66Ala) | |
| 15 | g.50471713T>G | CA392386636 | USP8 | c.767T>G (p.Val256Gly) c.536T>G (p.Val179Gly) n.513T>G c.*193T>G (n.*193T>G) c.336-5563T>G (n.336-5563T>G) c.*433T>G (n.*433T>G) c.197T>G (p.Val66Gly) | |
| 15 | g.50471714G>A | CA490347795 | USP8 | c.768G>A (p.Val256=) c.537G>A (p.Val179=) n.514G>A c.*194G>A (n.*194G>A) c.336-5562G>A (n.336-5562G>A) c.*434G>A (n.*434G>A) c.198G>A (p.Val66=) | |
| 15 | g.50471714G>C | CA490347801 | USP8 | c.768G>C (p.Val256=) c.537G>C (p.Val179=) n.514G>C c.*194G>C (n.*194G>C) c.336-5562G>C (n.336-5562G>C) c.*434G>C (n.*434G>C) c.198G>C (p.Val66=) | |
| 15 | g.50471714G>T | CA490347797 | USP8 | c.768G>T (p.Val256=) c.537G>T (p.Val179=) n.514G>T c.*194G>T (n.*194G>T) c.336-5562G>T (n.336-5562G>T) c.*434G>T (n.*434G>T) c.198G>T (p.Val66=) | |
| 15 | g.50471715G>A | CA392386638 | USP8 | c.769G>A (p.Val257Ile) c.538G>A (p.Val180Ile) n.515G>A c.*195G>A (n.*195G>A) c.336-5561G>A (n.336-5561G>A) c.*435G>A (n.*435G>A) c.199G>A (p.Val67Ile) | gnomAD v4 |
| 15 | g.50471715G>C | CA392386642 | USP8 | c.769G>C (p.Val257Leu) c.538G>C (p.Val180Leu) n.515G>C c.*195G>C (n.*195G>C) c.336-5561G>C (n.336-5561G>C) c.*435G>C (n.*435G>C) c.199G>C (p.Val67Leu) | |
| 15 | g.50471715G>T | CA392386647 | USP8 | c.769G>T (p.Val257Leu) c.538G>T (p.Val180Leu) n.515G>T c.*195G>T (n.*195G>T) c.336-5561G>T (n.336-5561G>T) c.*435G>T (n.*435G>T) c.199G>T (p.Val67Leu) | |
| 15 | g.50471716T>A | CA392386651 | USP8 | c.770T>A (p.Val257Glu) c.539T>A (p.Val180Glu) n.516T>A c.*196T>A (n.*196T>A) c.336-5560T>A (n.336-5560T>A) c.*436T>A (n.*436T>A) c.200T>A (p.Val67Glu) | |
| 15 | g.50471716T>C | CA392386653 | USP8 | c.770T>C (p.Val257Ala) c.539T>C (p.Val180Ala) n.516T>C c.*196T>C (n.*196T>C) c.336-5560T>C (n.336-5560T>C) c.*436T>C (n.*436T>C) c.200T>C (p.Val67Ala) | COSMIC |
| 15 | g.50471716T>G | CA392386654 | USP8 | c.770T>G (p.Val257Gly) c.539T>G (p.Val180Gly) n.516T>G c.*196T>G (n.*196T>G) c.336-5560T>G (n.336-5560T>G) c.*436T>G (n.*436T>G) c.200T>G (p.Val67Gly) | |
| 15 | g.50471717A= | CA2176416869 | USP8 | c.771A= (p.Val257=) c.540A= (p.Val180=) n.517A= c.*197A= (n.*197A=) c.336-5559A= (n.336-5559A=) c.*437A= (n.*437A=) c.201A= (p.Val67=) | |
| 15 | g.50471717A>C | CA7555565 | USP8 | c.771A>C (p.Val257=) c.540A>C (p.Val180=) n.517A>C c.*197A>C (n.*197A>C) c.336-5559A>C (n.336-5559A>C) c.*437A>C (n.*437A>C) c.201A>C (p.Val67=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50471717A>G | CA7555564 | USP8 | c.771A>G (p.Val257=) c.540A>G (p.Val180=) n.517A>G c.*197A>G (n.*197A>G) c.336-5559A>G (n.336-5559A>G) c.*437A>G (n.*437A>G) c.201A>G (p.Val67=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50471717A>T | CA490347835 | USP8 | c.771A>T (p.Val257=) c.540A>T (p.Val180=) n.517A>T c.*197A>T (n.*197A>T) c.336-5559A>T (n.336-5559A>T) c.*437A>T (n.*437A>T) c.201A>T (p.Val67=) | |
| 15 | g.50471718C>A | CA392386655 | USP8 | c.772C>A (p.Leu258Ile) c.541C>A (p.Leu181Ile) n.518C>A c.*198C>A (n.*198C>A) c.336-5558C>A (n.336-5558C>A) c.*438C>A (n.*438C>A) c.202C>A (p.Leu68Ile) | |
| 15 | g.50471718C= | CA2176416870 | USP8 | c.772C= (p.Leu258=) c.541C= (p.Leu181=) n.518C= c.*198C= (n.*198C=) c.336-5558C= (n.336-5558C=) c.*438C= (n.*438C=) c.202C= (p.Leu68=) | |
| 15 | g.50471718C>G | CA392386657 | USP8 | c.772C>G (p.Leu258Val) c.541C>G (p.Leu181Val) n.518C>G c.*198C>G (n.*198C>G) c.336-5558C>G (n.336-5558C>G) c.*438C>G (n.*438C>G) c.202C>G (p.Leu68Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50471718C>T | CA392386659 | USP8 | c.772C>T (p.Leu258Phe) c.541C>T (p.Leu181Phe) n.518C>T c.*198C>T (n.*198C>T) c.336-5558C>T (n.336-5558C>T) c.*438C>T (n.*438C>T) c.202C>T (p.Leu68Phe) | gnomAD v4 COSMIC |
| 15 | g.50471719T>A | CA392386667 | USP8 | c.773T>A (p.Leu258His) c.542T>A (p.Leu181His) n.519T>A c.*199T>A (n.*199T>A) c.336-5557T>A (n.336-5557T>A) c.*439T>A (n.*439T>A) c.203T>A (p.Leu68His) | |
| 15 | g.50471719T>C | CA392386674 | USP8 | c.773T>C (p.Leu258Pro) c.542T>C (p.Leu181Pro) n.519T>C c.*199T>C (n.*199T>C) c.336-5557T>C (n.336-5557T>C) c.*439T>C (n.*439T>C) c.203T>C (p.Leu68Pro) | |
| 15 | g.50471719T>G | CA392386676 | USP8 | c.773T>G (p.Leu258Arg) c.542T>G (p.Leu181Arg) n.519T>G c.*199T>G (n.*199T>G) c.336-5557T>G (n.336-5557T>G) c.*439T>G (n.*439T>G) c.203T>G (p.Leu68Arg) | |
| 15 | g.50471720T>A | CA490347851 | USP8 | c.774T>A (p.Leu258=) c.543T>A (p.Leu181=) n.520T>A c.*200T>A (n.*200T>A) c.336-5556T>A (n.336-5556T>A) c.*440T>A (n.*440T>A) c.204T>A (p.Leu68=) | |
| 15 | g.50471720T>C | CA490347854 | USP8 | c.774T>C (p.Leu258=) c.543T>C (p.Leu181=) n.520T>C c.*200T>C (n.*200T>C) c.336-5556T>C (n.336-5556T>C) c.*440T>C (n.*440T>C) c.204T>C (p.Leu68=) | dbSNP |
| 15 | g.50471720T>G | CA490347855 | USP8 | c.774T>G (p.Leu258=) c.543T>G (p.Leu181=) n.520T>G c.*200T>G (n.*200T>G) c.336-5556T>G (n.336-5556T>G) c.*440T>G (n.*440T>G) c.204T>G (p.Leu68=) | |
| 15 | g.50471720T= | CA2176416871 | USP8 | c.774T= (p.Leu258=) c.543T= (p.Leu181=) n.520T= c.*200T= (n.*200T=) c.336-5556T= (n.336-5556T=) c.*440T= (n.*440T=) c.204T= (p.Leu68=) | |
| 15 | g.50471721C>A | CA7555566 | USP8 | c.775C>A (p.Leu259Ile) c.544C>A (p.Leu182Ile) n.521C>A c.*201C>A (n.*201C>A) c.336-5555C>A (n.336-5555C>A) c.*441C>A (n.*441C>A) c.205C>A (p.Leu69Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50471721C= | CA2176416872 | USP8 | c.775C= (p.Leu259=) c.544C= (p.Leu182=) n.521C= c.*201C= (n.*201C=) c.336-5555C= (n.336-5555C=) c.*441C= (n.*441C=) c.205C= (p.Leu69=) | |
| 15 | g.50471721C>G | CA392386677 | USP8 | c.775C>G (p.Leu259Val) c.544C>G (p.Leu182Val) n.521C>G c.*201C>G (n.*201C>G) c.336-5555C>G (n.336-5555C>G) c.*441C>G (n.*441C>G) c.205C>G (p.Leu69Val) | |
| 15 | g.50471721C>T | CA392386678 | USP8 | c.775C>T (p.Leu259Phe) c.544C>T (p.Leu182Phe) n.521C>T c.*201C>T (n.*201C>T) c.336-5555C>T (n.336-5555C>T) c.*441C>T (n.*441C>T) c.205C>T (p.Leu69Phe) | |
| 15 | g.50471722T>A | CA392386679 | USP8 | c.776T>A (p.Leu259His) c.545T>A (p.Leu182His) n.522T>A c.*202T>A (n.*202T>A) c.336-5554T>A (n.336-5554T>A) c.*442T>A (n.*442T>A) c.206T>A (p.Leu69His) | |
| 15 | g.50471722T>C | CA392386682 | USP8 | c.776T>C (p.Leu259Pro) c.545T>C (p.Leu182Pro) n.522T>C c.*202T>C (n.*202T>C) c.336-5554T>C (n.336-5554T>C) c.*442T>C (n.*442T>C) c.206T>C (p.Leu69Pro) | |
| 15 | g.50471722T>G | CA392386684 | USP8 | c.776T>G (p.Leu259Arg) c.545T>G (p.Leu182Arg) n.522T>G c.*202T>G (n.*202T>G) c.336-5554T>G (n.336-5554T>G) c.*442T>G (n.*442T>G) c.206T>G (p.Leu69Arg) | |
| 15 | g.50471723T>A | CA490347884 | USP8 | c.777T>A (p.Leu259=) c.546T>A (p.Leu182=) n.523T>A c.*203T>A (n.*203T>A) c.336-5553T>A (n.336-5553T>A) c.*443T>A (n.*443T>A) c.207T>A (p.Leu69=) | |
| 15 | g.50471723T>C | CA490347881 | USP8 | c.777T>C (p.Leu259=) c.546T>C (p.Leu182=) n.523T>C c.*203T>C (n.*203T>C) c.336-5553T>C (n.336-5553T>C) c.*443T>C (n.*443T>C) c.207T>C (p.Leu69=) | gnomAD v4 |
| 15 | g.50471723T>G | CA490347879 | USP8 | c.777T>G (p.Leu259=) c.546T>G (p.Leu182=) n.523T>G c.*203T>G (n.*203T>G) c.336-5553T>G (n.336-5553T>G) c.*443T>G (n.*443T>G) c.207T>G (p.Leu69=) | |
| 15 | g.50471724G>A | CA392386699 | USP8 | c.778G>A (p.Asp260Asn) c.547G>A (p.Asp183Asn) n.524G>A c.*204G>A (n.*204G>A) c.336-5552G>A (n.336-5552G>A) c.*444G>A (n.*444G>A) c.208G>A (p.Asp70Asn) | |
| 15 | g.50471724G>C | CA392386697 | USP8 | c.778G>C (p.Asp260His) c.547G>C (p.Asp183His) n.524G>C c.*204G>C (n.*204G>C) c.336-5552G>C (n.336-5552G>C) c.*444G>C (n.*444G>C) c.208G>C (p.Asp70His) | |
| 15 | g.50471724G>T | CA392386691 | USP8 | c.778G>T (p.Asp260Tyr) c.547G>T (p.Asp183Tyr) n.524G>T c.*204G>T (n.*204G>T) c.336-5552G>T (n.336-5552G>T) c.*444G>T (n.*444G>T) c.208G>T (p.Asp70Tyr) | |
| 15 | g.50471725A>C | CA392386701 | USP8 | c.779A>C (p.Asp260Ala) c.548A>C (p.Asp183Ala) n.525A>C c.*205A>C (n.*205A>C) c.336-5551A>C (n.336-5551A>C) c.*445A>C (n.*445A>C) c.209A>C (p.Asp70Ala) | |
| 15 | g.50471725A>G | CA392386712 | USP8 | c.779A>G (p.Asp260Gly) c.548A>G (p.Asp183Gly) n.525A>G c.*205A>G (n.*205A>G) c.336-5551A>G (n.336-5551A>G) c.*445A>G (n.*445A>G) c.209A>G (p.Asp70Gly) | gnomAD v4 |
| 15 | g.50471725A>T | CA392386709 | USP8 | c.779A>T (p.Asp260Val) c.548A>T (p.Asp183Val) n.525A>T c.*205A>T (n.*205A>T) c.336-5551A>T (n.336-5551A>T) c.*445A>T (n.*445A>T) c.209A>T (p.Asp70Val) | |
| 15 | g.50471726C>A | CA392386715 | USP8 | c.780C>A (p.Asp260Glu) c.549C>A (p.Asp183Glu) n.526C>A c.*206C>A (n.*206C>A) c.336-5550C>A (n.336-5550C>A) c.*446C>A (n.*446C>A) c.210C>A (p.Asp70Glu) | |
| 15 | g.50471726C>G | CA392386716 | USP8 | c.780C>G (p.Asp260Glu) c.549C>G (p.Asp183Glu) n.526C>G c.*206C>G (n.*206C>G) c.336-5550C>G (n.336-5550C>G) c.*446C>G (n.*446C>G) c.210C>G (p.Asp70Glu) | |
| 15 | g.50471726C>T | CA490347908 | USP8 | c.780C>T (p.Asp260=) c.549C>T (p.Asp183=) n.526C>T c.*206C>T (n.*206C>T) c.336-5550C>T (n.336-5550C>T) c.*446C>T (n.*446C>T) c.210C>T (p.Asp70=) | |
| 15 | g.50471727T>A | CA392386717 | USP8 | c.781T>A (p.Trp261Arg) c.550T>A (p.Trp184Arg) n.527T>A c.*207T>A (n.*207T>A) c.336-5549T>A (n.336-5549T>A) c.*447T>A (n.*447T>A) c.211T>A (p.Trp71Arg) | |
| 15 | g.50471727T>C | CA392386720 | USP8 | c.781T>C (p.Trp261Arg) c.550T>C (p.Trp184Arg) n.527T>C c.*207T>C (n.*207T>C) c.336-5549T>C (n.336-5549T>C) c.*447T>C (n.*447T>C) c.211T>C (p.Trp71Arg) | |
| 15 | g.50471727T>G | CA392386735 | USP8 | c.781T>G (p.Trp261Gly) c.550T>G (p.Trp184Gly) n.527T>G c.*207T>G (n.*207T>G) c.336-5549T>G (n.336-5549T>G) c.*447T>G (n.*447T>G) c.211T>G (p.Trp71Gly) | dbSNP |
| 15 | g.50471727T= | CA2176416873 | USP8 | c.781T= (p.Trp261=) c.550T= (p.Trp184=) n.527T= c.*207T= (n.*207T=) c.336-5549T= (n.336-5549T=) c.*447T= (n.*447T=) c.211T= (p.Trp71=) | |
| 15 | g.50471728G>A | CA392386741 | USP8 | c.782G>A (p.Trp261Ter) c.551G>A (p.Trp184Ter) n.528G>A c.*208G>A (n.*208G>A) c.336-5548G>A (n.336-5548G>A) c.*448G>A (n.*448G>A) c.212G>A (p.Trp71Ter) | |
| 15 | g.50471728G>C | CA392386740 | USP8 | c.782G>C (p.Trp261Ser) c.551G>C (p.Trp184Ser) n.528G>C c.*208G>C (n.*208G>C) c.336-5548G>C (n.336-5548G>C) c.*448G>C (n.*448G>C) c.212G>C (p.Trp71Ser) | |
| 15 | g.50471728G>T | CA392386738 | USP8 | c.782G>T (p.Trp261Leu) c.551G>T (p.Trp184Leu) n.528G>T c.*208G>T (n.*208G>T) c.336-5548G>T (n.336-5548G>T) c.*448G>T (n.*448G>T) c.212G>T (p.Trp71Leu) | |
| 15 | g.50471729G>A | CA392386743 | USP8 | c.783G>A (p.Trp261Ter) c.552G>A (p.Trp184Ter) n.529G>A c.*209G>A (n.*209G>A) c.336-5547G>A (n.336-5547G>A) c.*449G>A (n.*449G>A) c.213G>A (p.Trp71Ter) | |
| 15 | g.50471729G>C | CA392386744 | USP8 | c.783G>C (p.Trp261Cys) c.552G>C (p.Trp184Cys) n.529G>C c.*209G>C (n.*209G>C) c.336-5547G>C (n.336-5547G>C) c.*449G>C (n.*449G>C) c.213G>C (p.Trp71Cys) | |
| 15 | g.50471729G>T | CA392386746 | USP8 | c.783G>T (p.Trp261Cys) c.552G>T (p.Trp184Cys) n.529G>T c.*209G>T (n.*209G>T) c.336-5547G>T (n.336-5547G>T) c.*449G>T (n.*449G>T) c.213G>T (p.Trp71Cys) | |
| 15 | g.50471730T>A | CA392386752 | USP8 | c.784T>A (p.Phe262Ile) c.553T>A (p.Phe185Ile) n.530T>A c.*210T>A (n.*210T>A) c.336-5546T>A (n.336-5546T>A) c.*450T>A (n.*450T>A) c.214T>A (p.Phe72Ile) | |
| 15 | g.50471730T>C | CA392386755 | USP8 | c.784T>C (p.Phe262Leu) c.553T>C (p.Phe185Leu) n.530T>C c.*210T>C (n.*210T>C) c.336-5546T>C (n.336-5546T>C) c.*450T>C (n.*450T>C) c.214T>C (p.Phe72Leu) | |
| 15 | g.50471730T>G | CA392386756 | USP8 | c.784T>G (p.Phe262Val) c.553T>G (p.Phe185Val) n.530T>G c.*210T>G (n.*210T>G) c.336-5546T>G (n.336-5546T>G) c.*450T>G (n.*450T>G) c.214T>G (p.Phe72Val) | |
| 15 | g.50471732del | CA2575733277 | USP8 | c.786del (p.Phe262LeufsTer16) c.555del (p.Phe185LeufsTer16) n.532del c.*212del (n.*212del) c.336-5544del (n.336-5544del) c.*452del (n.*452del) c.216del (p.Phe72LeufsTer16) | |
| 15 | g.50471731T>A | CA392386769 | USP8 | c.785T>A (p.Phe262Tyr) c.554T>A (p.Phe185Tyr) n.531T>A c.*211T>A (n.*211T>A) c.336-5545T>A (n.336-5545T>A) c.*451T>A (n.*451T>A) c.215T>A (p.Phe72Tyr) | |
| 15 | g.50471731T>C | CA392386760 | USP8 | c.785T>C (p.Phe262Ser) c.554T>C (p.Phe185Ser) n.531T>C c.*211T>C (n.*211T>C) c.336-5545T>C (n.336-5545T>C) c.*451T>C (n.*451T>C) c.215T>C (p.Phe72Ser) | |
| 15 | g.50471731T>G | CA392386763 | USP8 | c.785T>G (p.Phe262Cys) c.554T>G (p.Phe185Cys) n.531T>G c.*211T>G (n.*211T>G) c.336-5545T>G (n.336-5545T>G) c.*451T>G (n.*451T>G) c.215T>G (p.Phe72Cys) | |
| 15 | g.50471732T>A | CA392386772 | USP8 | c.786T>A (p.Phe262Leu) c.555T>A (p.Phe185Leu) n.532T>A c.*212T>A (n.*212T>A) c.336-5544T>A (n.336-5544T>A) c.*452T>A (n.*452T>A) c.216T>A (p.Phe72Leu) | |
| 15 | g.50471732T>C | CA490347962 | USP8 | c.786T>C (p.Phe262=) c.555T>C (p.Phe185=) n.532T>C c.*212T>C (n.*212T>C) c.336-5544T>C (n.336-5544T>C) c.*452T>C (n.*452T>C) c.216T>C (p.Phe72=) | |
| 15 | g.50471732T>G | CA392386782 | USP8 | c.786T>G (p.Phe262Leu) c.555T>G (p.Phe185Leu) n.532T>G c.*212T>G (n.*212T>G) c.336-5544T>G (n.336-5544T>G) c.*452T>G (n.*452T>G) c.216T>G (p.Phe72Leu) | |
| 15 | g.50471733A>C | CA392386783 | USP8 | c.787A>C (p.Ser263Arg) c.556A>C (p.Ser186Arg) n.533A>C c.*213A>C (n.*213A>C) c.336-5543A>C (n.336-5543A>C) c.*453A>C (n.*453A>C) c.217A>C (p.Ser73Arg) | |
| 15 | g.50471733A>G | CA392386784 | USP8 | c.787A>G (p.Ser263Gly) c.556A>G (p.Ser186Gly) n.533A>G c.*213A>G (n.*213A>G) c.336-5543A>G (n.336-5543A>G) c.*453A>G (n.*453A>G) c.217A>G (p.Ser73Gly) | |
| 15 | g.50471733A>T | CA392386785 | USP8 | c.787A>T (p.Ser263Cys) c.556A>T (p.Ser186Cys) n.533A>T c.*213A>T (n.*213A>T) c.336-5543A>T (n.336-5543A>T) c.*453A>T (n.*453A>T) c.217A>T (p.Ser73Cys) | |
| 15 | g.50471734G>A | CA392386786 | USP8 | c.788G>A (p.Ser263Asn) c.557G>A (p.Ser186Asn) n.534G>A c.*214G>A (n.*214G>A) c.336-5542G>A (n.336-5542G>A) c.*454G>A (n.*454G>A) c.218G>A (p.Ser73Asn) | |
| 15 | g.50471734G>C | CA392386787 | USP8 | c.788G>C (p.Ser263Thr) c.557G>C (p.Ser186Thr) n.534G>C c.*214G>C (n.*214G>C) c.336-5542G>C (n.336-5542G>C) c.*454G>C (n.*454G>C) c.218G>C (p.Ser73Thr) | |
| 15 | g.50471734G= | CA2176416874 | USP8 | c.788G= (p.Ser263=) c.557G= (p.Ser186=) n.534G= c.*214G= (n.*214G=) c.336-5542G= (n.336-5542G=) c.*454G= (n.*454G=) c.218G= (p.Ser73=) | |
| 15 | g.50471734G>T | CA392386790 | USP8 | c.788G>T (p.Ser263Ile) c.557G>T (p.Ser186Ile) n.534G>T c.*214G>T (n.*214G>T) c.336-5542G>T (n.336-5542G>T) c.*454G>T (n.*454G>T) c.218G>T (p.Ser73Ile) | dbSNP gnomAD v4 |
| 15 | g.50471735T>A | CA392386792 | USP8 | c.789T>A (p.Ser263Arg) c.558T>A (p.Ser186Arg) n.535T>A c.*215T>A (n.*215T>A) c.336-5541T>A (n.336-5541T>A) c.*455T>A (n.*455T>A) c.219T>A (p.Ser73Arg) | |
| 15 | g.50471735T>C | CA490347982 | USP8 | c.789T>C (p.Ser263=) c.558T>C (p.Ser186=) n.535T>C c.*215T>C (n.*215T>C) c.336-5541T>C (n.336-5541T>C) c.*455T>C (n.*455T>C) c.219T>C (p.Ser73=) | |
| 15 | g.50471735T>G | CA392386803 | USP8 | c.789T>G (p.Ser263Arg) c.558T>G (p.Ser186Arg) n.535T>G c.*215T>G (n.*215T>G) c.336-5541T>G (n.336-5541T>G) c.*455T>G (n.*455T>G) c.219T>G (p.Ser73Arg) | |
| 15 | g.50471736T>A | CA392386806 | USP8 | c.790T>A (p.Ser264Thr) c.559T>A (p.Ser187Thr) c.*216T>A (n.*216T>A) c.336-5540T>A (n.336-5540T>A) c.*456T>A (n.*456T>A) c.220T>A (p.Ser74Thr) | |
| 15 | g.50471736T>C | CA392386809 | USP8 | c.790T>C (p.Ser264Pro) c.559T>C (p.Ser187Pro) c.*216T>C (n.*216T>C) c.336-5540T>C (n.336-5540T>C) c.*456T>C (n.*456T>C) c.220T>C (p.Ser74Pro) | |
| 15 | g.50471736T>G | CA392386812 | USP8 | c.790T>G (p.Ser264Ala) c.559T>G (p.Ser187Ala) c.*216T>G (n.*216T>G) c.336-5540T>G (n.336-5540T>G) c.*456T>G (n.*456T>G) c.220T>G (p.Ser74Ala) | |
| 15 | g.50471737C>A | CA392386814 | USP8 | c.791C>A (p.Ser264Tyr) c.560C>A (p.Ser187Tyr) c.*217C>A (n.*217C>A) c.336-5539C>A (n.336-5539C>A) c.*457C>A (n.*457C>A) c.221C>A (p.Ser74Tyr) | |
| 15 | g.50471737C>G | CA392386819 | USP8 | c.791C>G (p.Ser264Cys) c.560C>G (p.Ser187Cys) c.*217C>G (n.*217C>G) c.336-5539C>G (n.336-5539C>G) c.*457C>G (n.*457C>G) c.221C>G (p.Ser74Cys) | |
| 15 | g.50471737C>T | CA392386817 | USP8 | c.791C>T (p.Ser264Phe) c.560C>T (p.Ser187Phe) c.*217C>T (n.*217C>T) c.336-5539C>T (n.336-5539C>T) c.*457C>T (n.*457C>T) c.221C>T (p.Ser74Phe) | gnomAD v4 |
| 15 | g.50471738T>A | CA490348033 | USP8 | c.792T>A (p.Ser264=) c.561T>A (p.Ser187=) c.*218T>A (n.*218T>A) c.336-5538T>A (n.336-5538T>A) c.*458T>A (n.*458T>A) c.222T>A (p.Ser74=) | |
| 15 | g.50471738T>C | CA490348036 | USP8 | c.792T>C (p.Ser264=) c.561T>C (p.Ser187=) c.*218T>C (n.*218T>C) c.336-5538T>C (n.336-5538T>C) c.*458T>C (n.*458T>C) c.222T>C (p.Ser74=) | dbSNP gnomAD v4 |
| 15 | g.50471738T>G | CA490348040 | USP8 | c.792T>G (p.Ser264=) c.561T>G (p.Ser187=) c.*218T>G (n.*218T>G) c.336-5538T>G (n.336-5538T>G) c.*458T>G (n.*458T>G) c.222T>G (p.Ser74=) | |
| 15 | g.50471738T= | CA2176416875 | USP8 | c.792T= (p.Ser264=) c.561T= (p.Ser187=) c.*218T= (n.*218T=) c.336-5538T= (n.336-5538T=) c.*458T= (n.*458T=) c.222T= (p.Ser74=) | |
| 15 | g.50471739G>A | CA392386820 | USP8 | c.793G>A (p.Ala265Thr) c.562G>A (p.Ala188Thr) c.*219G>A (n.*219G>A) c.336-5537G>A (n.336-5537G>A) c.*459G>A (n.*459G>A) c.223G>A (p.Ala75Thr) | dbSNP |
| 15 | g.50471739G>C | CA392386822 | USP8 | c.793G>C (p.Ala265Pro) c.562G>C (p.Ala188Pro) c.*219G>C (n.*219G>C) c.336-5537G>C (n.336-5537G>C) c.*459G>C (n.*459G>C) c.223G>C (p.Ala75Pro) | dbSNP gnomAD v4 |
| 15 | g.50471739G= | CA2176416876 | USP8 | c.793G= (p.Ala265=) c.562G= (p.Ala188=) c.*219G= (n.*219G=) c.336-5537G= (n.336-5537G=) c.*459G= (n.*459G=) c.223G= (p.Ala75=) | |
| 15 | g.50471739G>T | CA392386824 | USP8 | c.793G>T (p.Ala265Ser) c.562G>T (p.Ala188Ser) c.*219G>T (n.*219G>T) c.336-5537G>T (n.336-5537G>T) c.*459G>T (n.*459G>T) c.223G>T (p.Ala75Ser) | |
| 15 | g.50471740C>A | CA392386826 | USP8 | c.794C>A (p.Ala265Asp) c.563C>A (p.Ala188Asp) c.*220C>A (n.*220C>A) c.336-5536C>A (n.336-5536C>A) c.*460C>A (n.*460C>A) c.224C>A (p.Ala75Asp) | |
| 15 | g.50471740C>G | CA392386827 | USP8 | c.794C>G (p.Ala265Gly) c.563C>G (p.Ala188Gly) c.*220C>G (n.*220C>G) c.336-5536C>G (n.336-5536C>G) c.*460C>G (n.*460C>G) c.224C>G (p.Ala75Gly) | |
| 15 | g.50471740C>T | CA392386828 | USP8 | c.794C>T (p.Ala265Val) c.563C>T (p.Ala188Val) c.*220C>T (n.*220C>T) c.336-5536C>T (n.336-5536C>T) c.*460C>T (n.*460C>T) c.224C>T (p.Ala75Val) | |
| 15 | g.50471741C>A | CA490348050 | USP8 | c.795C>A (p.Ala265=) c.564C>A (p.Ala188=) c.*221C>A (n.*221C>A) c.336-5535C>A (n.336-5535C>A) c.*461C>A (n.*461C>A) c.225C>A (p.Ala75=) | |
| 15 | g.50471741C= | CA2176416877 | USP8 | c.795C= (p.Ala265=) c.564C= (p.Ala188=) c.*221C= (n.*221C=) c.336-5535C= (n.336-5535C=) c.*461C= (n.*461C=) c.225C= (p.Ala75=) | |
| 15 | g.50471741C>G | CA490348051 | USP8 | c.795C>G (p.Ala265=) c.564C>G (p.Ala188=) c.*221C>G (n.*221C>G) c.336-5535C>G (n.336-5535C>G) c.*461C>G (n.*461C>G) c.225C>G (p.Ala75=) | gnomAD v4 |
| 15 | g.50471741C>T | CA490348052 | USP8 | c.795C>T (p.Ala265=) c.564C>T (p.Ala188=) c.*221C>T (n.*221C>T) c.336-5535C>T (n.336-5535C>T) c.*461C>T (n.*461C>T) c.225C>T (p.Ala75=) | dbSNP |
| 15 | g.50471742A>C | CA392386830 | USP8 | c.796A>C (p.Lys266Gln) c.565A>C (p.Lys189Gln) c.*222A>C (n.*222A>C) c.336-5534A>C (n.336-5534A>C) c.*462A>C (n.*462A>C) c.226A>C (p.Lys76Gln) | |
| 15 | g.50471742A>G | CA392386833 | USP8 | c.796A>G (p.Lys266Glu) c.565A>G (p.Lys189Glu) c.*222A>G (n.*222A>G) c.336-5534A>G (n.336-5534A>G) c.*462A>G (n.*462A>G) c.226A>G (p.Lys76Glu) | |
| 15 | g.50471742A>T | CA392386841 | USP8 | c.796A>T (p.Lys266Ter) c.565A>T (p.Lys189Ter) c.*222A>T (n.*222A>T) c.336-5534A>T (n.336-5534A>T) c.*462A>T (n.*462A>T) c.226A>T (p.Lys76Ter) | |
| 15 | g.50471743A= | CA2176416878 | USP8 | c.797A= (p.Lys266=) c.566A= (p.Lys189=) c.*223A= (n.*223A=) c.336-5533A= (n.336-5533A=) c.*463A= (n.*463A=) c.227A= (p.Lys76=) | |
| 15 | g.50471743A>C | CA392386843 | USP8 | c.797A>C (p.Lys266Thr) c.566A>C (p.Lys189Thr) c.*223A>C (n.*223A>C) c.336-5533A>C (n.336-5533A>C) c.*463A>C (n.*463A>C) c.227A>C (p.Lys76Thr) | |
| 15 | g.50471743A>G | CA7555567 | USP8 | c.797A>G (p.Lys266Arg) c.566A>G (p.Lys189Arg) c.*223A>G (n.*223A>G) c.336-5533A>G (n.336-5533A>G) c.*463A>G (n.*463A>G) c.227A>G (p.Lys76Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50471743A>T | CA392386848 | USP8 | c.797A>T (p.Lys266Ile) c.566A>T (p.Lys189Ile) c.*223A>T (n.*223A>T) c.336-5533A>T (n.336-5533A>T) c.*463A>T (n.*463A>T) c.227A>T (p.Lys76Ile) | |
| 15 | g.50471744A= | CA2176416879 | USP8 | c.798A= (p.Lys266=) c.567A= (p.Lys189=) c.*224A= (n.*224A=) c.336-5532A= (n.336-5532A=) c.*464A= (n.*464A=) c.228A= (p.Lys76=) | |
| 15 | g.50471744A>C | CA392386853 | USP8 | c.798A>C (p.Lys266Asn) c.567A>C (p.Lys189Asn) c.*224A>C (n.*224A>C) c.336-5532A>C (n.336-5532A>C) c.*464A>C (n.*464A>C) c.228A>C (p.Lys76Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50471744A>G | CA490348083 | USP8 | c.798A>G (p.Lys266=) c.567A>G (p.Lys189=) c.*224A>G (n.*224A>G) c.336-5532A>G (n.336-5532A>G) c.*464A>G (n.*464A>G) c.228A>G (p.Lys76=) | |
| 15 | g.50471744A>T | CA392386849 | USP8 | c.798A>T (p.Lys266Asn) c.567A>T (p.Lys189Asn) c.*224A>T (n.*224A>T) c.336-5532A>T (n.336-5532A>T) c.*464A>T (n.*464A>T) c.228A>T (p.Lys76Asn) | |
| 15 | g.50471745G>A | CA392386856 | USP8 | c.799G>A (p.Asp267Asn) c.568G>A (p.Asp190Asn) c.*225G>A (n.*225G>A) c.336-5531G>A (n.336-5531G>A) c.*465G>A (n.*465G>A) c.229G>A (p.Asp77Asn) | |
| 15 | g.50471745G>C | CA392386860 | USP8 | c.799G>C (p.Asp267His) c.568G>C (p.Asp190His) c.*225G>C (n.*225G>C) c.336-5531G>C (n.336-5531G>C) c.*465G>C (n.*465G>C) c.229G>C (p.Asp77His) | |
| 15 | g.50471745G>T | CA392386863 | USP8 | c.799G>T (p.Asp267Tyr) c.568G>T (p.Asp190Tyr) c.*225G>T (n.*225G>T) c.336-5531G>T (n.336-5531G>T) c.*465G>T (n.*465G>T) c.229G>T (p.Asp77Tyr) | |
| 15 | g.50471746A>C | CA392386866 | USP8 | c.800A>C (p.Asp267Ala) c.569A>C (p.Asp190Ala) c.*226A>C (n.*226A>C) c.336-5530A>C (n.336-5530A>C) c.*466A>C (n.*466A>C) c.230A>C (p.Asp77Ala) | |
| 15 | g.50471746A>G | CA392386872 | USP8 | c.800A>G (p.Asp267Gly) c.569A>G (p.Asp190Gly) c.*226A>G (n.*226A>G) c.336-5530A>G (n.336-5530A>G) c.*466A>G (n.*466A>G) c.230A>G (p.Asp77Gly) | |
| 15 | g.50471746A>T | CA392386874 | USP8 | c.800A>T (p.Asp267Val) c.569A>T (p.Asp190Val) c.*226A>T (n.*226A>T) c.336-5530A>T (n.336-5530A>T) c.*466A>T (n.*466A>T) c.230A>T (p.Asp77Val) | |
| 15 | g.50471747T>A | CA392386879 | USP8 | c.801T>A (p.Asp267Glu) c.570T>A (p.Asp190Glu) c.*227T>A (n.*227T>A) c.336-5529T>A (n.336-5529T>A) c.*467T>A (n.*467T>A) c.231T>A (p.Asp77Glu) | |
| 15 | g.50471747T>C | CA490348106 | USP8 | c.801T>C (p.Asp267=) c.570T>C (p.Asp190=) c.*227T>C (n.*227T>C) c.336-5529T>C (n.336-5529T>C) c.*467T>C (n.*467T>C) c.231T>C (p.Asp77=) | dbSNP gnomAD v4 |
| 15 | g.50471747T>G | CA392386885 | USP8 | c.801T>G (p.Asp267Glu) c.570T>G (p.Asp190Glu) c.*227T>G (n.*227T>G) c.336-5529T>G (n.336-5529T>G) c.*467T>G (n.*467T>G) c.231T>G (p.Asp77Glu) | |
| 15 | g.50471747T= | CA2176416880 | USP8 | c.801T= (p.Asp267=) c.570T= (p.Asp190=) c.*227T= (n.*227T=) c.336-5529T= (n.336-5529T=) c.*467T= (n.*467T=) c.231T= (p.Asp77=) | |
| 15 | g.50471748T>A | CA7555568 | USP8 | c.802T>A (p.Leu268Ile) c.571T>A (p.Leu191Ile) c.*228T>A (n.*228T>A) c.336-5528T>A (n.336-5528T>A) c.*468T>A (n.*468T>A) c.232T>A (p.Leu78Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50471748T>C | CA490348113 | USP8 | c.802T>C (p.Leu268=) c.571T>C (p.Leu191=) c.*228T>C (n.*228T>C) c.336-5528T>C (n.336-5528T>C) c.*468T>C (n.*468T>C) c.232T>C (p.Leu78=) | |
| 15 | g.50471748T>G | CA392386891 | USP8 | c.802T>G (p.Leu268Val) c.571T>G (p.Leu191Val) c.*228T>G (n.*228T>G) c.336-5528T>G (n.336-5528T>G) c.*468T>G (n.*468T>G) c.232T>G (p.Leu78Val) | ClinVar |
| 15 | g.50471748T= | CA2176416881 | USP8 | c.802T= (p.Leu268=) c.571T= (p.Leu191=) c.*228T= (n.*228T=) c.336-5528T= (n.336-5528T=) c.*468T= (n.*468T=) c.232T= (p.Leu78=) | |
| 15 | g.50471749T>A | CA392386892 | USP8 | c.803T>A (p.Leu268Ter) c.572T>A (p.Leu191Ter) c.*229T>A (n.*229T>A) c.336-5527T>A (n.336-5527T>A) c.*469T>A (n.*469T>A) c.233T>A (p.Leu78Ter) | |
| 15 | g.50471749T>C | CA392386893 | USP8 | c.803T>C (p.Leu268Ser) c.572T>C (p.Leu191Ser) c.*229T>C (n.*229T>C) c.336-5527T>C (n.336-5527T>C) c.*469T>C (n.*469T>C) c.233T>C (p.Leu78Ser) | dbSNP |
| 15 | g.50471749T>G | CA392386895 | USP8 | c.803T>G (p.Leu268Ter) c.572T>G (p.Leu191Ter) c.*229T>G (n.*229T>G) c.336-5527T>G (n.336-5527T>G) c.*469T>G (n.*469T>G) c.233T>G (p.Leu78Ter) | |
| 15 | g.50471749T= | CA2176416882 | USP8 | c.803T= (p.Leu268=) c.572T= (p.Leu191=) c.*229T= (n.*229T=) c.336-5527T= (n.336-5527T=) c.*469T= (n.*469T=) c.233T= (p.Leu78=) | |
| 15 | g.50471750A= | CA2176416883 | USP8 | c.804A= (p.Leu268=) c.573A= (p.Leu191=) c.*230A= (n.*230A=) c.336-5526A= (n.336-5526A=) c.*470A= (n.*470A=) c.234A= (p.Leu78=) | |
| 15 | g.50471750A>C | CA392386897 | USP8 | c.804A>C (p.Leu268Phe) c.573A>C (p.Leu191Phe) c.*230A>C (n.*230A>C) c.336-5526A>C (n.336-5526A>C) c.*470A>C (n.*470A>C) c.234A>C (p.Leu78Phe) | |
| 15 | g.50471750A>G | CA490348131 | USP8 | c.804A>G (p.Leu268=) c.573A>G (p.Leu191=) c.*230A>G (n.*230A>G) c.336-5526A>G (n.336-5526A>G) c.*470A>G (n.*470A>G) c.234A>G (p.Leu78=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50471750A>T | CA392386900 | USP8 | c.804A>T (p.Leu268Phe) c.573A>T (p.Leu191Phe) c.*230A>T (n.*230A>T) c.336-5526A>T (n.336-5526A>T) c.*470A>T (n.*470A>T) c.234A>T (p.Leu78Phe) | |
| 15 | g.50471751C>A | CA392386903 | USP8 | c.805C>A (p.Gln269Lys) c.574C>A (p.Gln192Lys) c.*231C>A (n.*231C>A) c.336-5525C>A (n.336-5525C>A) c.*471C>A (n.*471C>A) c.235C>A (p.Gln79Lys) | |
| 15 | g.50471751C>G | CA392386905 | USP8 | c.805C>G (p.Gln269Glu) c.574C>G (p.Gln192Glu) c.*231C>G (n.*231C>G) c.336-5525C>G (n.336-5525C>G) c.*471C>G (n.*471C>G) c.235C>G (p.Gln79Glu) | gnomAD v4 |
| 15 | g.50471751C>T | CA392386907 | USP8 | c.805C>T (p.Gln269Ter) c.574C>T (p.Gln192Ter) c.*231C>T (n.*231C>T) c.336-5525C>T (n.336-5525C>T) c.*471C>T (n.*471C>T) c.235C>T (p.Gln79Ter) | |
| 15 | g.50471752A= | CA2176416884 | USP8 | c.806A= (p.Gln269=) c.575A= (p.Gln192=) c.*232A= (n.*232A=) c.336-5524A= (n.336-5524A=) c.*472A= (n.*472A=) c.236A= (p.Gln79=) | |
| 15 | g.50471752A>C | CA392386910 | USP8 | c.806A>C (p.Gln269Pro) c.575A>C (p.Gln192Pro) c.*232A>C (n.*232A>C) c.336-5524A>C (n.336-5524A>C) c.*472A>C (n.*472A>C) c.236A>C (p.Gln79Pro) | |
| 15 | g.50471752A>G | CA270486022 | USP8 | c.806A>G (p.Gln269Arg) c.575A>G (p.Gln192Arg) c.*232A>G (n.*232A>G) c.336-5524A>G (n.336-5524A>G) c.*472A>G (n.*472A>G) c.236A>G (p.Gln79Arg) | dbSNP |
| 15 | g.50471752A>T | CA392386916 | USP8 | c.806A>T (p.Gln269Leu) c.575A>T (p.Gln192Leu) c.*232A>T (n.*232A>T) c.336-5524A>T (n.336-5524A>T) c.*472A>T (n.*472A>T) c.236A>T (p.Gln79Leu) | |
| 15 | g.50471753G>A | CA490348149 | USP8 | c.807G>A (p.Gln269=) c.576G>A (p.Gln192=) c.*233G>A (n.*233G>A) c.336-5523G>A (n.336-5523G>A) c.*473G>A (n.*473G>A) c.237G>A (p.Gln79=) | gnomAD v3 gnomAD v4 |
| 15 | g.50471753G>C | CA392386918 | USP8 | c.807G>C (p.Gln269His) c.576G>C (p.Gln192His) c.*233G>C (n.*233G>C) c.336-5523G>C (n.336-5523G>C) c.*473G>C (n.*473G>C) c.237G>C (p.Gln79His) | |
| 15 | g.50471753G>T | CA392386920 | USP8 | c.807G>T (p.Gln269His) c.576G>T (p.Gln192His) c.*233G>T (n.*233G>T) c.336-5523G>T (n.336-5523G>T) c.*473G>T (n.*473G>T) c.237G>T (p.Gln79His) | |
| 15 | g.50471754A= | CA2176416885 | USP8 | c.808A= (p.Ile270=) c.577A= (p.Ile193=) c.*234A= (n.*234A=) c.336-5522A= (n.336-5522A=) c.*474A= (n.*474A=) c.238A= (p.Ile80=) | |
| 15 | g.50471754A>C | CA392386922 | USP8 | c.808A>C (p.Ile270Leu) c.577A>C (p.Ile193Leu) c.*234A>C (n.*234A>C) c.336-5522A>C (n.336-5522A>C) c.*474A>C (n.*474A>C) c.238A>C (p.Ile80Leu) | gnomAD v3 gnomAD v4 |
| 15 | g.50471754A>G | CA270486030 | USP8 | c.808A>G (p.Ile270Val) c.577A>G (p.Ile193Val) c.*234A>G (n.*234A>G) c.336-5522A>G (n.336-5522A>G) c.*474A>G (n.*474A>G) c.238A>G (p.Ile80Val) | ClinVar dbSNP gnomAD v4 |
| 15 | g.50471754A>T | CA392386924 | USP8 | c.808A>T (p.Ile270Phe) c.577A>T (p.Ile193Phe) c.*234A>T (n.*234A>T) c.336-5522A>T (n.336-5522A>T) c.*474A>T (n.*474A>T) c.238A>T (p.Ile80Phe) | |
| 15 | g.50471755T>A | CA392386927 | USP8 | c.809T>A (p.Ile270Asn) c.578T>A (p.Ile193Asn) c.*235T>A (n.*235T>A) c.336-5521T>A (n.336-5521T>A) c.*475T>A (n.*475T>A) c.239T>A (p.Ile80Asn) | |
| 15 | g.50471755T>C | CA392386930 | USP8 | c.809T>C (p.Ile270Thr) c.578T>C (p.Ile193Thr) c.*235T>C (n.*235T>C) c.336-5521T>C (n.336-5521T>C) c.*475T>C (n.*475T>C) c.239T>C (p.Ile80Thr) | |
| 15 | g.50471755T>G | CA392386933 | USP8 | c.809T>G (p.Ile270Ser) c.578T>G (p.Ile193Ser) c.*235T>G (n.*235T>G) c.336-5521T>G (n.336-5521T>G) c.*475T>G (n.*475T>G) c.239T>G (p.Ile80Ser) | |
| 15 | g.50471756T>A | CA490348166 | USP8 | c.810T>A (p.Ile270=) c.579T>A (p.Ile193=) c.*236T>A (n.*236T>A) c.336-5520T>A (n.336-5520T>A) c.*476T>A (n.*476T>A) c.240T>A (p.Ile80=) | |
| 15 | g.50471756T>C | CA490348184 | USP8 | c.810T>C (p.Ile270=) c.579T>C (p.Ile193=) c.*236T>C (n.*236T>C) c.336-5520T>C (n.336-5520T>C) c.*476T>C (n.*476T>C) c.240T>C (p.Ile80=) | |
| 15 | g.50471756T>G | CA270486033 | USP8 | c.810T>G (p.Ile270Met) c.579T>G (p.Ile193Met) c.*236T>G (n.*236T>G) c.336-5520T>G (n.336-5520T>G) c.*476T>G (n.*476T>G) c.240T>G (p.Ile80Met) | dbSNP gnomAD v4 |
| 15 | g.50471756T= | CA2176416886 | USP8 | c.810T= (p.Ile270=) c.579T= (p.Ile193=) c.*236T= (n.*236T=) c.336-5520T= (n.336-5520T=) c.*476T= (n.*476T=) c.240T= (p.Ile80=) | |
| 15 | g.50471757G>A | CA392386947 | USP8 | c.811G>A (p.Gly271Arg) c.580G>A (p.Gly194Arg) c.*237G>A (n.*237G>A) c.336-5519G>A (n.336-5519G>A) c.*477G>A (n.*477G>A) c.241G>A (p.Gly81Arg) | |
| 15 | g.50471757G>C | CA392386942 | USP8 | c.811G>C (p.Gly271Arg) c.580G>C (p.Gly194Arg) c.*237G>C (n.*237G>C) c.336-5519G>C (n.336-5519G>C) c.*477G>C (n.*477G>C) c.241G>C (p.Gly81Arg) | |
| 15 | g.50471757G>T | CA392386945 | USP8 | c.811G>T (p.Gly271Ter) c.580G>T (p.Gly194Ter) c.*237G>T (n.*237G>T) c.336-5519G>T (n.336-5519G>T) c.*477G>T (n.*477G>T) c.241G>T (p.Gly81Ter) | |
| 15 | g.50471758G>A | CA392386949 | USP8 | c.812G>A (p.Gly271Glu) c.581G>A (p.Gly194Glu) c.*238G>A (n.*238G>A) c.336-5518G>A (n.336-5518G>A) c.*478G>A (n.*478G>A) c.242G>A (p.Gly81Glu) | |
| 15 | g.50471758G>C | CA392386952 | USP8 | c.812G>C (p.Gly271Ala) c.581G>C (p.Gly194Ala) c.*238G>C (n.*238G>C) c.336-5518G>C (n.336-5518G>C) c.*478G>C (n.*478G>C) c.242G>C (p.Gly81Ala) | |
| 15 | g.50471758G>T | CA392386954 | USP8 | c.812G>T (p.Gly271Val) c.581G>T (p.Gly194Val) c.*238G>T (n.*238G>T) c.336-5518G>T (n.336-5518G>T) c.*478G>T (n.*478G>T) c.242G>T (p.Gly81Val) | |
| 15 | g.50471759A= | CA2176416887 | USP8 | c.813A= (p.Gly271=) c.582A= (p.Gly194=) c.*239A= (n.*239A=) c.336-5517A= (n.336-5517A=) c.*479A= (n.*479A=) c.243A= (p.Gly81=) | |
| 15 | g.50471759A>C | CA490348212 | USP8 | c.813A>C (p.Gly271=) c.582A>C (p.Gly194=) c.*239A>C (n.*239A>C) c.336-5517A>C (n.336-5517A>C) c.*479A>C (n.*479A>C) c.243A>C (p.Gly81=) | |
| 15 | g.50471759A>G | CA7555569 | USP8 | c.813A>G (p.Gly271=) c.582A>G (p.Gly194=) c.*239A>G (n.*239A>G) c.336-5517A>G (n.336-5517A>G) c.*479A>G (n.*479A>G) c.243A>G (p.Gly81=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50471759A>T | CA490348208 | USP8 | c.813A>T (p.Gly271=) c.582A>T (p.Gly194=) c.*239A>T (n.*239A>T) c.336-5517A>T (n.336-5517A>T) c.*479A>T (n.*479A>T) c.243A>T (p.Gly81=) | |
| 15 | g.50471760A>C | CA392386960 | USP8 | c.814A>C (p.Thr272Pro) c.583A>C (p.Thr195Pro) c.*240A>C (n.*240A>C) c.336-5516A>C (n.336-5516A>C) c.*480A>C (n.*480A>C) c.244A>C (p.Thr82Pro) | |
| 15 | g.50471760A>G | CA392386962 | USP8 | c.814A>G (p.Thr272Ala) c.583A>G (p.Thr195Ala) c.*240A>G (n.*240A>G) c.336-5516A>G (n.336-5516A>G) c.*480A>G (n.*480A>G) c.244A>G (p.Thr82Ala) | |
| 15 | g.50471760A>T | CA392386965 | USP8 | c.814A>T (p.Thr272Ser) c.583A>T (p.Thr195Ser) c.*240A>T (n.*240A>T) c.336-5516A>T (n.336-5516A>T) c.*480A>T (n.*480A>T) c.244A>T (p.Thr82Ser) | |
| 15 | g.50471761C>A | CA392386967 | USP8 | c.815C>A (p.Thr272Lys) c.584C>A (p.Thr195Lys) c.*241C>A (n.*241C>A) c.336-5515C>A (n.336-5515C>A) c.*481C>A (n.*481C>A) c.245C>A (p.Thr82Lys) | |
| 15 | g.50471761C>G | CA392386968 | USP8 | c.815C>G (p.Thr272Arg) c.584C>G (p.Thr195Arg) c.*241C>G (n.*241C>G) c.336-5515C>G (n.336-5515C>G) c.*481C>G (n.*481C>G) c.245C>G (p.Thr82Arg) | |
| 15 | g.50471761C>T | CA392386969 | USP8 | c.815C>T (p.Thr272Ile) c.584C>T (p.Thr195Ile) c.*241C>T (n.*241C>T) c.336-5515C>T (n.336-5515C>T) c.*481C>T (n.*481C>T) c.245C>T (p.Thr82Ile) | |
| 15 | g.50471762A>C | CA490348223 | USP8 | c.816A>C (p.Thr272=) c.585A>C (p.Thr195=) c.*242A>C (n.*242A>C) c.336-5514A>C (n.336-5514A>C) c.*482A>C (n.*482A>C) c.246A>C (p.Thr82=) | |
| 15 | g.50471762A>G | CA490348226 | USP8 | c.816A>G (p.Thr272=) c.585A>G (p.Thr195=) c.*242A>G (n.*242A>G) c.336-5514A>G (n.336-5514A>G) c.*482A>G (n.*482A>G) c.246A>G (p.Thr82=) | gnomAD v4 |
| 15 | g.50471762A>T | CA490348224 | USP8 | c.816A>T (p.Thr272=) c.585A>T (p.Thr195=) c.*242A>T (n.*242A>T) c.336-5514A>T (n.336-5514A>T) c.*482A>T (n.*482A>T) c.246A>T (p.Thr82=) | |
| 15 | g.50471763A= | CA2176416888 | USP8 | c.817A= (p.Thr273=) c.586A= (p.Thr196=) c.*243A= (n.*243A=) c.336-5513A= (n.336-5513A=) c.*483A= (n.*483A=) c.247A= (p.Thr83=) | |
| 15 | g.50471763A>C | CA392386970 | USP8 | c.817A>C (p.Thr273Pro) c.586A>C (p.Thr196Pro) c.*243A>C (n.*243A>C) c.336-5513A>C (n.336-5513A>C) c.*483A>C (n.*483A>C) c.247A>C (p.Thr83Pro) | |
| 15 | g.50471763A>G | CA7555570 | USP8 | c.817A>G (p.Thr273Ala) c.586A>G (p.Thr196Ala) c.*243A>G (n.*243A>G) c.336-5513A>G (n.336-5513A>G) c.*483A>G (n.*483A>G) c.247A>G (p.Thr83Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50471763A>T | CA392386971 | USP8 | c.817A>T (p.Thr273Ser) c.586A>T (p.Thr196Ser) c.*243A>T (n.*243A>T) c.336-5513A>T (n.336-5513A>T) c.*483A>T (n.*483A>T) c.247A>T (p.Thr83Ser) | |
| 15 | g.50471764C>A | CA392386972 | USP8 | c.818C>A (p.Thr273Asn) c.587C>A (p.Thr196Asn) c.*244C>A (n.*244C>A) c.336-5512C>A (n.336-5512C>A) c.*484C>A (n.*484C>A) c.248C>A (p.Thr83Asn) | |
| 15 | g.50471764C>G | CA392386974 | USP8 | c.818C>G (p.Thr273Ser) c.587C>G (p.Thr196Ser) c.*244C>G (n.*244C>G) c.336-5512C>G (n.336-5512C>G) c.*484C>G (n.*484C>G) c.248C>G (p.Thr83Ser) | |
| 15 | g.50471764C>T | CA392386973 | USP8 | c.818C>T (p.Thr273Ile) c.587C>T (p.Thr196Ile) c.*244C>T (n.*244C>T) c.336-5512C>T (n.336-5512C>T) c.*484C>T (n.*484C>T) c.248C>T (p.Thr83Ile) | |
| 15 | g.50471765T>A | CA490348243 | USP8 | c.819T>A (p.Thr273=) c.588T>A (p.Thr196=) c.*245T>A (n.*245T>A) c.336-5511T>A (n.336-5511T>A) c.*485T>A (n.*485T>A) c.249T>A (p.Thr83=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50471765T>C | CA490348244 | USP8 | c.819T>C (p.Thr273=) c.588T>C (p.Thr196=) c.*245T>C (n.*245T>C) c.336-5511T>C (n.336-5511T>C) c.*485T>C (n.*485T>C) c.249T>C (p.Thr83=) | |
| 15 | g.50471765T>G | CA490348247 | USP8 | c.819T>G (p.Thr273=) c.588T>G (p.Thr196=) c.*245T>G (n.*245T>G) c.336-5511T>G (n.336-5511T>G) c.*485T>G (n.*485T>G) c.249T>G (p.Thr83=) | |
| 15 | g.50471765T= | CA2176416889 | USP8 | c.819T= (p.Thr273=) c.588T= (p.Thr196=) c.*245T= (n.*245T=) c.336-5511T= (n.336-5511T=) c.*485T= (n.*485T=) c.249T= (p.Thr83=) | |
| 15 | g.50471766C>A | CA392386976 | USP8 | c.820C>A (p.Leu274Ile) c.589C>A (p.Leu197Ile) c.*246C>A (n.*246C>A) c.336-5510C>A (n.336-5510C>A) c.*486C>A (n.*486C>A) c.250C>A (p.Leu84Ile) | COSMIC |
| 15 | g.50471766C= | CA2176416890 | USP8 | c.820C= (p.Leu274=) c.589C= (p.Leu197=) c.*246C= (n.*246C=) c.336-5510C= (n.336-5510C=) c.*486C= (n.*486C=) c.250C= (p.Leu84=) | |
| 15 | g.50471766C>G | CA7555571 | USP8 | c.820C>G (p.Leu274Val) c.589C>G (p.Leu197Val) c.*246C>G (n.*246C>G) c.336-5510C>G (n.336-5510C>G) c.*486C>G (n.*486C>G) c.250C>G (p.Leu84Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50471766C>T | CA392386979 | USP8 | c.820C>T (p.Leu274Phe) c.589C>T (p.Leu197Phe) c.*246C>T (n.*246C>T) c.336-5510C>T (n.336-5510C>T) c.*486C>T (n.*486C>T) c.250C>T (p.Leu84Phe) | |
| 15 | g.50471767T>A | CA392386980 | USP8 | c.821T>A (p.Leu274His) c.590T>A (p.Leu197His) c.*247T>A (n.*247T>A) c.336-5509T>A (n.336-5509T>A) c.*487T>A (n.*487T>A) c.251T>A (p.Leu84His) | |
| 15 | g.50471767T>C | CA392386983 | USP8 | c.821T>C (p.Leu274Pro) c.590T>C (p.Leu197Pro) c.*247T>C (n.*247T>C) c.336-5509T>C (n.336-5509T>C) c.*487T>C (n.*487T>C) c.251T>C (p.Leu84Pro) | |
| 15 | g.50471767T>G | CA392386985 | USP8 | c.821T>G (p.Leu274Arg) c.590T>G (p.Leu197Arg) c.*247T>G (n.*247T>G) c.336-5509T>G (n.336-5509T>G) c.*487T>G (n.*487T>G) c.251T>G (p.Leu84Arg) | |
| 15 | g.50471768C>A | CA490348258 | USP8 | c.822C>A (p.Leu274=) c.591C>A (p.Leu197=) c.*248C>A (n.*248C>A) c.336-5508C>A (n.336-5508C>A) c.*488C>A (n.*488C>A) c.252C>A (p.Leu84=) | |
| 15 | g.50471768C= | CA2176416891 | USP8 | c.822C= (p.Leu274=) c.591C= (p.Leu197=) c.*248C= (n.*248C=) c.336-5508C= (n.336-5508C=) c.*488C= (n.*488C=) c.252C= (p.Leu84=) | |
| 15 | g.50471768C>G | CA490348261 | USP8 | c.822C>G (p.Leu274=) c.591C>G (p.Leu197=) c.*248C>G (n.*248C>G) c.336-5508C>G (n.336-5508C>G) c.*488C>G (n.*488C>G) c.252C>G (p.Leu84=) | |
| 15 | g.50471768C>T | CA270486045 | USP8 | c.822C>T (p.Leu274=) c.591C>T (p.Leu197=) c.*248C>T (n.*248C>T) c.336-5508C>T (n.336-5508C>T) c.*488C>T (n.*488C>T) c.252C>T (p.Leu84=) | dbSNP |
| 15 | g.50471769C>A | CA490348268 | USP8 | c.823C>A (p.Arg275=) c.592C>A (p.Arg198=) c.*249C>A (n.*249C>A) c.336-5507C>A (n.336-5507C>A) c.*489C>A (n.*489C>A) c.253C>A (p.Arg85=) | |
| 15 | g.50471769C= | CA2176416892 | USP8 | c.823C= (p.Arg275=) c.592C= (p.Arg198=) c.*249C= (n.*249C=) c.336-5507C= (n.336-5507C=) c.*489C= (n.*489C=) c.253C= (p.Arg85=) | |
| 15 | g.50471769C>G | CA392386989 | USP8 | c.823C>G (p.Arg275Gly) c.592C>G (p.Arg198Gly) c.*249C>G (n.*249C>G) c.336-5507C>G (n.336-5507C>G) c.*489C>G (n.*489C>G) c.253C>G (p.Arg85Gly) | |
| 15 | g.50471769C>T | CA7555572 | USP8 | c.823C>T (p.Arg275Trp) c.592C>T (p.Arg198Trp) c.*249C>T (n.*249C>T) c.336-5507C>T (n.336-5507C>T) c.*489C>T (n.*489C>T) c.253C>T (p.Arg85Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |