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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.662597C>A | CA355917554 | PDE6B | c.1811C>A (p.Thr604Asn) c.974C>A (p.Thr325Asn) c.2030C>A (p.Thr677Asn) c.1016C>A (p.Thr339Asn) c.740C>A (p.Thr247Asn) n.203G>T c.656C>A (p.Thr219Asn) | |
| 4 | g.662597C= | CA1432860099 | PDE6B | c.1811C= (p.Thr604=) c.974C= (p.Thr325=) c.2030C= (p.Thr677=) c.1016C= (p.Thr339=) c.740C= (p.Thr247=) n.203G= c.656C= (p.Thr219=) | |
| 4 | g.662597C>G | CA355917556 | PDE6B | c.1811C>G (p.Thr604Ser) c.974C>G (p.Thr325Ser) c.2030C>G (p.Thr677Ser) c.1016C>G (p.Thr339Ser) c.740C>G (p.Thr247Ser) n.203G>C c.656C>G (p.Thr219Ser) | ClinVar dbSNP |
| 4 | g.662597C>T | CA2794688 | PDE6B | c.1811C>T (p.Thr604Ile) c.974C>T (p.Thr325Ile) c.2030C>T (p.Thr677Ile) c.1016C>T (p.Thr339Ile) c.740C>T (p.Thr247Ile) n.203G>A c.656C>T (p.Thr219Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.662598C>A | CA438053780 | PDE6B | c.1812C>A (p.Thr604=) c.975C>A (p.Thr325=) c.2031C>A (p.Thr677=) c.1017C>A (p.Thr339=) c.741C>A (p.Thr247=) n.202G>T c.657C>A (p.Thr219=) | gnomAD v4 |
| 4 | g.662598C>G | CA438053782 | PDE6B | c.1812C>G (p.Thr604=) c.975C>G (p.Thr325=) c.2031C>G (p.Thr677=) c.1017C>G (p.Thr339=) c.741C>G (p.Thr247=) n.202G>C c.657C>G (p.Thr219=) | |
| 4 | g.662598C>T | CA438053781 | PDE6B | c.1812C>T (p.Thr604=) c.975C>T (p.Thr325=) c.2031C>T (p.Thr677=) c.1017C>T (p.Thr339=) c.741C>T (p.Thr247=) n.202G>A c.657C>T (p.Thr219=) | |
| 4 | g.662599A= | CA1432860105 | PDE6B | c.1813A= (p.Asn605=) c.976A= (p.Asn326=) c.2032A= (p.Asn678=) c.1018A= (p.Asn340=) c.742A= (p.Asn248=) n.201T= c.658A= (p.Asn220=) | |
| 4 | g.662599A>C | CA355917559 | PDE6B | c.1813A>C (p.Asn605His) c.976A>C (p.Asn326His) c.2032A>C (p.Asn678His) c.1018A>C (p.Asn340His) c.742A>C (p.Asn248His) n.201T>G c.658A>C (p.Asn220His) | |
| 4 | g.662599A>G | CA355917561 | PDE6B | c.1813A>G (p.Asn605Asp) c.976A>G (p.Asn326Asp) c.2032A>G (p.Asn678Asp) c.1018A>G (p.Asn340Asp) c.742A>G (p.Asn248Asp) n.201T>C c.658A>G (p.Asn220Asp) | |
| 4 | g.662599A>T | CA2794689 | PDE6B | c.1813A>T (p.Asn605Tyr) c.976A>T (p.Asn326Tyr) c.2032A>T (p.Asn678Tyr) c.1018A>T (p.Asn340Tyr) c.742A>T (p.Asn248Tyr) n.201T>A c.658A>T (p.Asn220Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.662600A>C | CA355917563 | PDE6B | c.1814A>C (p.Asn605Thr) c.977A>C (p.Asn326Thr) c.2033A>C (p.Asn678Thr) c.1019A>C (p.Asn340Thr) c.743A>C (p.Asn248Thr) n.200T>G c.659A>C (p.Asn220Thr) | |
| 4 | g.662600A>G | CA355917565 | PDE6B | c.1814A>G (p.Asn605Ser) c.977A>G (p.Asn326Ser) c.2033A>G (p.Asn678Ser) c.1019A>G (p.Asn340Ser) c.743A>G (p.Asn248Ser) n.200T>C c.659A>G (p.Asn220Ser) | |
| 4 | g.662600A>T | CA355917567 | PDE6B | c.1814A>T (p.Asn605Ile) c.977A>T (p.Asn326Ile) c.2033A>T (p.Asn678Ile) c.1019A>T (p.Asn340Ile) c.743A>T (p.Asn248Ile) n.200T>A c.659A>T (p.Asn220Ile) | |
| 4 | g.662601C>A | CA355917568 | PDE6B | c.1815C>A (p.Asn605Lys) c.978C>A (p.Asn326Lys) c.2034C>A (p.Asn678Lys) c.1020C>A (p.Asn340Lys) c.744C>A (p.Asn248Lys) n.199G>T c.660C>A (p.Asn220Lys) | |
| 4 | g.662601C>G | CA355917570 | PDE6B | c.1815C>G (p.Asn605Lys) c.978C>G (p.Asn326Lys) c.2034C>G (p.Asn678Lys) c.1020C>G (p.Asn340Lys) c.744C>G (p.Asn248Lys) n.199G>C c.660C>G (p.Asn220Lys) | |
| 4 | g.662601C>T | CA438053786 | PDE6B | c.1815C>T (p.Asn605=) c.978C>T (p.Asn326=) c.2034C>T (p.Asn678=) c.1020C>T (p.Asn340=) c.744C>T (p.Asn248=) n.199G>A c.660C>T (p.Asn220=) | |
| 4 | g.662602A>C | CA355917572 | PDE6B | c.1816A>C (p.Asn606His) c.979A>C (p.Asn327His) c.2035A>C (p.Asn679His) c.1021A>C (p.Asn341His) c.745A>C (p.Asn249His) n.198T>G c.661A>C (p.Asn221His) | |
| 4 | g.662602A>G | CA355917573 | PDE6B | c.1816A>G (p.Asn606Asp) c.979A>G (p.Asn327Asp) c.2035A>G (p.Asn679Asp) c.1021A>G (p.Asn341Asp) c.745A>G (p.Asn249Asp) n.198T>C c.661A>G (p.Asn221Asp) | |
| 4 | g.662602A>T | CA355917575 | PDE6B | c.1816A>T (p.Asn606Tyr) c.979A>T (p.Asn327Tyr) c.2035A>T (p.Asn679Tyr) c.1021A>T (p.Asn341Tyr) c.745A>T (p.Asn249Tyr) n.198T>A c.661A>T (p.Asn221Tyr) | |
| 4 | g.662603A>C | CA355917579 | PDE6B | c.1817A>C (p.Asn606Thr) c.980A>C (p.Asn327Thr) c.2036A>C (p.Asn679Thr) c.1022A>C (p.Asn341Thr) c.746A>C (p.Asn249Thr) n.197T>G c.662A>C (p.Asn221Thr) | |
| 4 | g.662603A>G | CA355917578 | PDE6B | c.1817A>G (p.Asn606Ser) c.980A>G (p.Asn327Ser) c.2036A>G (p.Asn679Ser) c.1022A>G (p.Asn341Ser) c.746A>G (p.Asn249Ser) n.197T>C c.662A>G (p.Asn221Ser) | gnomAD v4 |
| 4 | g.662603A>T | CA355917577 | PDE6B | c.1817A>T (p.Asn606Ile) c.980A>T (p.Asn327Ile) c.2036A>T (p.Asn679Ile) c.1022A>T (p.Asn341Ile) c.746A>T (p.Asn249Ile) n.197T>A c.662A>T (p.Asn221Ile) | |
| 4 | g.662604C>A | CA355917580 | PDE6B | c.1818C>A (p.Asn606Lys) c.981C>A (p.Asn327Lys) c.2037C>A (p.Asn679Lys) c.1023C>A (p.Asn341Lys) c.747C>A (p.Asn249Lys) n.196G>T c.663C>A (p.Asn221Lys) | |
| 4 | g.662604C= | CA1432860110 | PDE6B | c.1818C= (p.Asn606=) c.981C= (p.Asn327=) c.2037C= (p.Asn679=) c.1023C= (p.Asn341=) c.747C= (p.Asn249=) n.196G= c.663C= (p.Asn221=) | |
| 4 | g.662604C>G | CA355917582 | PDE6B | c.1818C>G (p.Asn606Lys) c.981C>G (p.Asn327Lys) c.2037C>G (p.Asn679Lys) c.1023C>G (p.Asn341Lys) c.747C>G (p.Asn249Lys) n.196G>C c.663C>G (p.Asn221Lys) | |
| 4 | g.662604C>T | CA2794690 | PDE6B | c.1818C>T (p.Asn606=) c.981C>T (p.Asn327=) c.2037C>T (p.Asn679=) c.1023C>T (p.Asn341=) c.747C>T (p.Asn249=) n.196G>A c.663C>T (p.Asn221=) | dbSNP ExAC gnomAD v2 |
| 4 | g.662605del | CA2740499108 | PDE6B | c.1819del (p.Leu607CysfsTer4) c.982del (p.Leu328CysfsTer4) c.2038del (p.Leu680CysfsTer4) c.1024del (p.Leu342CysfsTer4) c.748del (p.Leu250CysfsTer4) n.196del c.664del (p.Leu222CysfsTer4) | |
| 4 | g.662605C>A | CA355917584 | PDE6B | c.1819C>A (p.Leu607Met) c.982C>A (p.Leu328Met) c.2038C>A (p.Leu680Met) c.1024C>A (p.Leu342Met) c.748C>A (p.Leu250Met) n.196-1G>T c.664C>A (p.Leu222Met) | gnomAD v4 |
| 4 | g.662605C>G | CA355917586 | PDE6B | c.1819C>G (p.Leu607Val) c.982C>G (p.Leu328Val) c.2038C>G (p.Leu680Val) c.1024C>G (p.Leu342Val) c.748C>G (p.Leu250Val) n.196-1G>C c.664C>G (p.Leu222Val) | |
| 4 | g.662605C>T | CA438053788 | PDE6B | c.1819C>T (p.Leu607=) c.982C>T (p.Leu328=) c.2038C>T (p.Leu680=) c.1024C>T (p.Leu342=) c.748C>T (p.Leu250=) n.196-1G>A c.664C>T (p.Leu222=) | |
| 4 | g.662606T>A | CA355917592 | PDE6B | c.1820T>A (p.Leu607Gln) c.983T>A (p.Leu328Gln) c.2039T>A (p.Leu680Gln) c.1025T>A (p.Leu342Gln) c.749T>A (p.Leu250Gln) n.196-2A>T c.665T>A (p.Leu222Gln) | |
| 4 | g.662606T>C | CA355917590 | PDE6B | c.1820T>C (p.Leu607Pro) c.983T>C (p.Leu328Pro) c.2039T>C (p.Leu680Pro) c.1025T>C (p.Leu342Pro) c.749T>C (p.Leu250Pro) n.196-2A>G c.665T>C (p.Leu222Pro) | |
| 4 | g.662606T>G | CA355917588 | PDE6B | c.1820T>G (p.Leu607Arg) c.983T>G (p.Leu328Arg) c.2039T>G (p.Leu680Arg) c.1025T>G (p.Leu342Arg) c.749T>G (p.Leu250Arg) n.196-2A>C c.665T>G (p.Leu222Arg) | |
| 4 | g.662607_662608del | CA2578010069 | PDE6B | c.1821_1822del (p.Tyr608ProfsTer10) c.984_985del (p.Tyr329ProfsTer10) c.2040_2041del (p.Tyr681ProfsTer10) c.1026_1027del (p.Tyr343ProfsTer10) c.750_751del (p.Tyr251ProfsTer10) n.196-3_196-2del c.666_667del (p.Tyr223ProfsTer10) | |
| 4 | g.662607G>A | CA438053790 | PDE6B | c.1821G>A (p.Leu607=) c.984G>A (p.Leu328=) c.2040G>A (p.Leu680=) c.1026G>A (p.Leu342=) c.750G>A (p.Leu250=) n.196-3C>T c.666G>A (p.Leu222=) | dbSNP |
| 4 | g.662607G>C | CA438053791 | PDE6B | c.1821G>C (p.Leu607=) c.984G>C (p.Leu328=) c.2040G>C (p.Leu680=) c.1026G>C (p.Leu342=) c.750G>C (p.Leu250=) n.196-3C>G c.666G>C (p.Leu222=) | gnomAD v4 |
| 4 | g.662607G>T | CA438053792 | PDE6B | c.1821G>T (p.Leu607=) c.984G>T (p.Leu328=) c.2040G>T (p.Leu680=) c.1026G>T (p.Leu342=) c.750G>T (p.Leu250=) n.196-3C>A c.666G>T (p.Leu222=) | |
| 4 | g.662607_662608insGACAGCGCATTGTATGACCAAGTCGTCGTCG | CA2509887076 | PDE6B | c.1821_1822insGACAGCGCATTGTATGACCAAGTCGTCGTCG (p.Tyr608AspfsTer21) c.984_985insGACAGCGCATTGTATGACCAAGTCGTCGTCG (p.Tyr329AspfsTer21) c.2040_2041insGACAGCGCATTGTATGACCAAGTCGTCGTCG (p.Tyr681AspfsTer21) c.1026_1027insGACAGCGCATTGTATGACCAAGTCGTCGTCG (p.Tyr343AspfsTer21) c.750_751insGACAGCGCATTGTATGACCAAGTCGTCGTCG (p.Tyr251AspfsTer21) n.196-3_196-2insGACGACGACTTGGTCATACAATGCGCTGTCC c.666_667insGACAGCGCATTGTATGACCAAGTCGTCGTCG (p.Tyr223AspfsTer21) | |
| 4 | g.662608T>A | CA355917594 | PDE6B | c.1822T>A (p.Tyr608Asn) c.985T>A (p.Tyr329Asn) c.2041T>A (p.Tyr681Asn) c.1027T>A (p.Tyr343Asn) c.751T>A (p.Tyr251Asn) n.196-4A>T c.667T>A (p.Tyr223Asn) | |
| 4 | g.662608T>C | CA355917596 | PDE6B | c.1822T>C (p.Tyr608His) c.985T>C (p.Tyr329His) c.2041T>C (p.Tyr681His) c.1027T>C (p.Tyr343His) c.751T>C (p.Tyr251His) n.196-4A>G c.667T>C (p.Tyr223His) | gnomAD v4 |
| 4 | g.662608T>G | CA355917598 | PDE6B | c.1822T>G (p.Tyr608Asp) c.985T>G (p.Tyr329Asp) c.2041T>G (p.Tyr681Asp) c.1027T>G (p.Tyr343Asp) c.751T>G (p.Tyr251Asp) n.196-4A>C c.667T>G (p.Tyr223Asp) | |
| 4 | g.662609A>C | CA355917600 | PDE6B | c.1823A>C (p.Tyr608Ser) c.986A>C (p.Tyr329Ser) c.2042A>C (p.Tyr681Ser) c.1028A>C (p.Tyr343Ser) c.752A>C (p.Tyr251Ser) n.196-5T>G c.668A>C (p.Tyr223Ser) | |
| 4 | g.662609A>G | CA355917602 | PDE6B | c.1823A>G (p.Tyr608Cys) c.986A>G (p.Tyr329Cys) c.2042A>G (p.Tyr681Cys) c.1028A>G (p.Tyr343Cys) c.752A>G (p.Tyr251Cys) n.196-5T>C c.668A>G (p.Tyr223Cys) | |
| 4 | g.662609A>T | CA355917604 | PDE6B | c.1823A>T (p.Tyr608Phe) c.986A>T (p.Tyr329Phe) c.2042A>T (p.Tyr681Phe) c.1028A>T (p.Tyr343Phe) c.752A>T (p.Tyr251Phe) n.196-5T>A c.668A>T (p.Tyr223Phe) | |
| 4 | g.662610C>A | CA355917609 | PDE6B | c.1824C>A (p.Tyr608Ter) c.987C>A (p.Tyr329Ter) c.2043C>A (p.Tyr681Ter) c.1029C>A (p.Tyr343Ter) c.753C>A (p.Tyr251Ter) n.196-6G>T c.669C>A (p.Tyr223Ter) | gnomAD v4 |
| 4 | g.662610C= | CA1432849537 | PDE6B | c.1824C= (p.Tyr608=) c.987C= (p.Tyr329=) c.2043C= (p.Tyr681=) c.1029C= (p.Tyr343=) c.753C= (p.Tyr251=) n.196-6G= c.669C= (p.Tyr223=) | |
| 4 | g.662610C>G | CA355917606 | PDE6B | c.1824C>G (p.Tyr608Ter) c.987C>G (p.Tyr329Ter) c.2043C>G (p.Tyr681Ter) c.1029C>G (p.Tyr343Ter) c.753C>G (p.Tyr251Ter) n.196-6G>C c.669C>G (p.Tyr223Ter) | |
| 4 | g.662610C>T | CA2794691 | PDE6B | c.1824C>T (p.Tyr608=) c.987C>T (p.Tyr329=) c.2043C>T (p.Tyr681=) c.1029C>T (p.Tyr343=) c.753C>T (p.Tyr251=) n.196-6G>A c.669C>T (p.Tyr223=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.662611del | CA2669421744 | PDE6B | c.1825del (p.Gln609ArgfsTer2) c.988del (p.Gln330ArgfsTer2) c.2044del (p.Gln682ArgfsTer2) c.1030del (p.Gln344ArgfsTer2) c.754del (p.Gln252ArgfsTer2) n.196-6del c.670del (p.Gln224ArgfsTer2) | gnomAD v4 |