UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.660590del | CA2794582 | PDE6B | c.1591del (p.Arg531GlufsTer?) c.754del (p.Arg252GlufsTer?) c.1810del (p.Arg604GlufsTer?) c.796del (p.Arg266GlufsTer?) c.520del (p.Arg174GlufsTer?) c.436del (p.Arg146GlufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.660590C>A | CA437897767 | PDE6B | c.1591C>A (p.Arg531=) c.754C>A (p.Arg252=) c.1810C>A (p.Arg604=) c.796C>A (p.Arg266=) c.520C>A (p.Arg174=) c.436C>A (p.Arg146=) | |
| 4 | g.660590C= | CA1432855438 | PDE6B | c.1591C= (p.Arg531=) c.754C= (p.Arg252=) c.1810C= (p.Arg604=) c.796C= (p.Arg266=) c.520C= (p.Arg174=) c.436C= (p.Arg146=) | |
| 4 | g.660590C>G | CA2794584 | PDE6B | c.1591C>G (p.Arg531Gly) c.754C>G (p.Arg252Gly) c.1810C>G (p.Arg604Gly) c.796C>G (p.Arg266Gly) c.520C>G (p.Arg174Gly) c.436C>G (p.Arg146Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.660590C>T | CA256717 | PDE6B | c.1591C>T (p.Arg531Ter) c.754C>T (p.Arg252Ter) c.1810C>T (p.Arg604Ter) c.796C>T (p.Arg266Ter) c.520C>T (p.Arg174Ter) c.436C>T (p.Arg146Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.660591G>A | CA2794585 | PDE6B | c.1592G>A (p.Arg531Gln) c.755G>A (p.Arg252Gln) c.1811G>A (p.Arg604Gln) c.797G>A (p.Arg266Gln) c.521G>A (p.Arg174Gln) c.437G>A (p.Arg146Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.660591G>C | CA2794586 | PDE6B | c.1592G>C (p.Arg531Pro) c.755G>C (p.Arg252Pro) c.1811G>C (p.Arg604Pro) c.797G>C (p.Arg266Pro) c.521G>C (p.Arg174Pro) c.437G>C (p.Arg146Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.660591G= | CA1432855442 | PDE6B | c.1592G= (p.Arg531=) c.755G= (p.Arg252=) c.1811G= (p.Arg604=) c.797G= (p.Arg266=) c.521G= (p.Arg174=) c.437G= (p.Arg146=) | |
| 4 | g.660591G>T | CA2794587 | PDE6B | c.1592G>T (p.Arg531Leu) c.755G>T (p.Arg252Leu) c.1811G>T (p.Arg604Leu) c.797G>T (p.Arg266Leu) c.521G>T (p.Arg174Leu) c.437G>T (p.Arg146Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.660592A= | CA1432855447 | PDE6B | c.1593A= (p.Arg531=) c.756A= (p.Arg252=) c.1812A= (p.Arg604=) c.798A= (p.Arg266=) c.522A= (p.Arg174=) c.438A= (p.Arg146=) | |
| 4 | g.660592A>C | CA437897769 | PDE6B | c.1593A>C (p.Arg531=) c.756A>C (p.Arg252=) c.1812A>C (p.Arg604=) c.798A>C (p.Arg266=) c.522A>C (p.Arg174=) c.438A>C (p.Arg146=) | |
| 4 | g.660592A>G | CA2794588 | PDE6B | c.1593A>G (p.Arg531=) c.756A>G (p.Arg252=) c.1812A>G (p.Arg604=) c.798A>G (p.Arg266=) c.522A>G (p.Arg174=) c.438A>G (p.Arg146=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.660592A>T | CA437897770 | PDE6B | c.1593A>T (p.Arg531=) c.756A>T (p.Arg252=) c.1812A>T (p.Arg604=) c.798A>T (p.Arg266=) c.522A>T (p.Arg174=) c.438A>T (p.Arg146=) | gnomAD v4 |
| 4 | g.660593A>C | CA355916365 | PDE6B | c.1594A>C (p.Lys532Gln) c.757A>C (p.Lys253Gln) c.1813A>C (p.Lys605Gln) c.799A>C (p.Lys267Gln) c.523A>C (p.Lys175Gln) c.439A>C (p.Lys147Gln) | |
| 4 | g.660593A>G | CA355916368 | PDE6B | c.1594A>G (p.Lys532Glu) c.757A>G (p.Lys253Glu) c.1813A>G (p.Lys605Glu) c.799A>G (p.Lys267Glu) c.523A>G (p.Lys175Glu) c.439A>G (p.Lys147Glu) | |
| 4 | g.660593A>T | CA355916370 | PDE6B | c.1594A>T (p.Lys532Ter) c.757A>T (p.Lys253Ter) c.1813A>T (p.Lys605Ter) c.799A>T (p.Lys267Ter) c.523A>T (p.Lys175Ter) c.439A>T (p.Lys147Ter) | |
| 4 | g.660594A>C | CA355916376 | PDE6B | c.1595A>C (p.Lys532Thr) c.758A>C (p.Lys253Thr) c.1814A>C (p.Lys605Thr) c.800A>C (p.Lys267Thr) c.524A>C (p.Lys175Thr) c.440A>C (p.Lys147Thr) | |
| 4 | g.660594A>G | CA355916374 | PDE6B | c.1595A>G (p.Lys532Arg) c.758A>G (p.Lys253Arg) c.1814A>G (p.Lys605Arg) c.800A>G (p.Lys267Arg) c.524A>G (p.Lys175Arg) c.440A>G (p.Lys147Arg) | |
| 4 | g.660594A>T | CA355916372 | PDE6B | c.1595A>T (p.Lys532Met) c.758A>T (p.Lys253Met) c.1814A>T (p.Lys605Met) c.800A>T (p.Lys267Met) c.524A>T (p.Lys175Met) c.440A>T (p.Lys147Met) | |
| 4 | g.660595G>A | CA437897771 | PDE6B | c.1596G>A (p.Lys532=) c.759G>A (p.Lys253=) c.1815G>A (p.Lys605=) c.801G>A (p.Lys267=) c.525G>A (p.Lys175=) c.441G>A (p.Lys147=) | |
| 4 | g.660595G>C | CA355916378 | PDE6B | c.1596G>C (p.Lys532Asn) c.759G>C (p.Lys253Asn) c.1815G>C (p.Lys605Asn) c.801G>C (p.Lys267Asn) c.525G>C (p.Lys175Asn) c.441G>C (p.Lys147Asn) | |
| 4 | g.660595G= | CA1432855448 | PDE6B | c.1596G= (p.Lys532=) c.759G= (p.Lys253=) c.1815G= (p.Lys605=) c.801G= (p.Lys267=) c.525G= (p.Lys175=) c.441G= (p.Lys147=) | |
| 4 | g.660595G>T | CA355916380 | PDE6B | c.1596G>T (p.Lys532Asn) c.759G>T (p.Lys253Asn) c.1815G>T (p.Lys605Asn) c.801G>T (p.Lys267Asn) c.525G>T (p.Lys175Asn) c.441G>T (p.Lys147Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.660596T>A | CA355916381 | PDE6B | c.1597T>A (p.Phe533Ile) c.760T>A (p.Phe254Ile) c.1816T>A (p.Phe606Ile) c.802T>A (p.Phe268Ile) c.526T>A (p.Phe176Ile) c.442T>A (p.Phe148Ile) | |
| 4 | g.660596T>C | CA355916383 | PDE6B | c.1597T>C (p.Phe533Leu) c.760T>C (p.Phe254Leu) c.1816T>C (p.Phe606Leu) c.802T>C (p.Phe268Leu) c.526T>C (p.Phe176Leu) c.442T>C (p.Phe148Leu) | |
| 4 | g.660596T>G | CA355916385 | PDE6B | c.1597T>G (p.Phe533Val) c.760T>G (p.Phe254Val) c.1816T>G (p.Phe606Val) c.802T>G (p.Phe268Val) c.526T>G (p.Phe176Val) c.442T>G (p.Phe148Val) | |
| 4 | g.660597T>A | CA355916387 | PDE6B | c.1598T>A (p.Phe533Tyr) c.761T>A (p.Phe254Tyr) c.1817T>A (p.Phe606Tyr) c.803T>A (p.Phe268Tyr) c.527T>A (p.Phe176Tyr) c.443T>A (p.Phe148Tyr) | |
| 4 | g.660597T>C | CA355916389 | PDE6B | c.1598T>C (p.Phe533Ser) c.761T>C (p.Phe254Ser) c.1817T>C (p.Phe606Ser) c.803T>C (p.Phe268Ser) c.527T>C (p.Phe176Ser) c.443T>C (p.Phe148Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.660597T>G | CA355916391 | PDE6B | c.1598T>G (p.Phe533Cys) c.761T>G (p.Phe254Cys) c.1817T>G (p.Phe606Cys) c.803T>G (p.Phe268Cys) c.527T>G (p.Phe176Cys) c.443T>G (p.Phe148Cys) | |
| 4 | g.660597T= | CA1432855451 | PDE6B | c.1598T= (p.Phe533=) c.761T= (p.Phe254=) c.1817T= (p.Phe606=) c.803T= (p.Phe268=) c.527T= (p.Phe176=) c.443T= (p.Phe148=) | |
| 4 | g.660598C>A | CA355916393 | PDE6B | c.1599C>A (p.Phe533Leu) c.762C>A (p.Phe254Leu) c.1818C>A (p.Phe606Leu) c.804C>A (p.Phe268Leu) c.528C>A (p.Phe176Leu) c.444C>A (p.Phe148Leu) | |
| 4 | g.660598C>G | CA355916395 | PDE6B | c.1599C>G (p.Phe533Leu) c.762C>G (p.Phe254Leu) c.1818C>G (p.Phe606Leu) c.804C>G (p.Phe268Leu) c.528C>G (p.Phe176Leu) c.444C>G (p.Phe148Leu) | |
| 4 | g.660598C>T | CA437897773 | PDE6B | c.1599C>T (p.Phe533=) c.762C>T (p.Phe254=) c.1818C>T (p.Phe606=) c.804C>T (p.Phe268=) c.528C>T (p.Phe176=) c.444C>T (p.Phe148=) | |
| 4 | g.660602_660610del | CA2669419688 | PDE6B | c.1603_1611del (p.Ile535_Gln537del) c.766_774del (p.Ile256_Gln258del) c.1822_1830del (p.Ile608_Gln610del) c.808_816del (p.Ile270_Gln272del) c.532_540del (p.Ile178_Gln180del) c.448_456del (p.Ile150_Gln152del) | gnomAD v4 |
| 4 | g.660599C>A | CA355916399 | PDE6B | c.1600C>A (p.Gln534Lys) c.763C>A (p.Gln255Lys) c.1819C>A (p.Gln607Lys) c.805C>A (p.Gln269Lys) c.529C>A (p.Gln177Lys) c.445C>A (p.Gln149Lys) | gnomAD v4 |
| 4 | g.660599C>G | CA355916400 | PDE6B | c.1600C>G (p.Gln534Glu) c.763C>G (p.Gln255Glu) c.1819C>G (p.Gln607Glu) c.805C>G (p.Gln269Glu) c.529C>G (p.Gln177Glu) c.445C>G (p.Gln149Glu) | |
| 4 | g.660599C>T | CA355916402 | PDE6B | c.1600C>T (p.Gln534Ter) c.763C>T (p.Gln255Ter) c.1819C>T (p.Gln607Ter) c.805C>T (p.Gln269Ter) c.529C>T (p.Gln177Ter) c.445C>T (p.Gln149Ter) | |
| 4 | g.660600A>C | CA355916407 | PDE6B | c.1601A>C (p.Gln534Pro) c.764A>C (p.Gln255Pro) c.1820A>C (p.Gln607Pro) c.806A>C (p.Gln269Pro) c.530A>C (p.Gln177Pro) c.446A>C (p.Gln149Pro) | |
| 4 | g.660600A>G | CA355916404 | PDE6B | c.1601A>G (p.Gln534Arg) c.764A>G (p.Gln255Arg) c.1820A>G (p.Gln607Arg) c.806A>G (p.Gln269Arg) c.530A>G (p.Gln177Arg) c.446A>G (p.Gln149Arg) | |
| 4 | g.660600A>T | CA355916406 | PDE6B | c.1601A>T (p.Gln534Leu) c.764A>T (p.Gln255Leu) c.1820A>T (p.Gln607Leu) c.806A>T (p.Gln269Leu) c.530A>T (p.Gln177Leu) c.446A>T (p.Gln149Leu) | |
| 4 | g.660601G>A | CA437897774 | PDE6B | c.1602G>A (p.Gln534=) c.765G>A (p.Gln255=) c.1821G>A (p.Gln607=) c.807G>A (p.Gln269=) c.531G>A (p.Gln177=) c.447G>A (p.Gln149=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.660601G>C | CA355916408 | PDE6B | c.1602G>C (p.Gln534His) c.765G>C (p.Gln255His) c.1821G>C (p.Gln607His) c.807G>C (p.Gln269His) c.531G>C (p.Gln177His) c.447G>C (p.Gln149His) | |
| 4 | g.660601G= | CA1432855455 | PDE6B | c.1602G= (p.Gln534=) c.765G= (p.Gln255=) c.1821G= (p.Gln607=) c.807G= (p.Gln269=) c.531G= (p.Gln177=) c.447G= (p.Gln149=) | |
| 4 | g.660601G>T | CA355916410 | PDE6B | c.1602G>T (p.Gln534His) c.765G>T (p.Gln255His) c.1821G>T (p.Gln607His) c.807G>T (p.Gln269His) c.531G>T (p.Gln177His) c.447G>T (p.Gln149His) | |
| 4 | g.660602A>C | CA355916412 | PDE6B | c.1603A>C (p.Ile535Leu) c.766A>C (p.Ile256Leu) c.1822A>C (p.Ile608Leu) c.808A>C (p.Ile270Leu) c.532A>C (p.Ile178Leu) c.448A>C (p.Ile150Leu) | |
| 4 | g.660602A>G | CA355916413 | PDE6B | c.1603A>G (p.Ile535Val) c.766A>G (p.Ile256Val) c.1822A>G (p.Ile608Val) c.808A>G (p.Ile270Val) c.532A>G (p.Ile178Val) c.448A>G (p.Ile150Val) | |
| 4 | g.660602A>T | CA355916416 | PDE6B | c.1603A>T (p.Ile535Phe) c.766A>T (p.Ile256Phe) c.1822A>T (p.Ile608Phe) c.808A>T (p.Ile270Phe) c.532A>T (p.Ile178Phe) c.448A>T (p.Ile150Phe) | |
| 4 | g.660603T>A | CA270010 | PDE6B | c.1604T>A (p.Ile535Asn) c.767T>A (p.Ile256Asn) c.1823T>A (p.Ile608Asn) c.809T>A (p.Ile270Asn) c.533T>A (p.Ile178Asn) c.449T>A (p.Ile150Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.660603T>C | CA355916418 | PDE6B | c.1604T>C (p.Ile535Thr) c.767T>C (p.Ile256Thr) c.1823T>C (p.Ile608Thr) c.809T>C (p.Ile270Thr) c.533T>C (p.Ile178Thr) c.449T>C (p.Ile150Thr) | |
| 4 | g.660603T>G | CA355916419 | PDE6B | c.1604T>G (p.Ile535Ser) c.767T>G (p.Ile256Ser) c.1823T>G (p.Ile608Ser) c.809T>G (p.Ile270Ser) c.533T>G (p.Ile178Ser) c.449T>G (p.Ile150Ser) |