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.660487dup | CA549125566 | PDE6B | c.1488dup (p.Thr497HisfsTer4) c.651dup (p.Thr218HisfsTer4) c.1707dup (p.Thr570HisfsTer4) c.693dup (p.Thr232HisfsTer4) c.417dup (p.Thr140HisfsTer4) c.333dup (p.Thr112HisfsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.660487del | CA256719 | PDE6B | c.1488del (p.Thr497ProfsTer?) c.651del (p.Thr218ProfsTer?) c.1707del (p.Thr570ProfsTer?) c.693del (p.Thr232ProfsTer?) c.417del (p.Thr140ProfsTer?) c.333del (p.Thr112ProfsTer?) | ClinVar dbSNP gnomAD v4 |
| 4 | g.660485_660488delinsCCCA | CA1432855088 | PDE6B | c.1486_1489delinsCCCA (p.Pro496=) c.649_652delinsCCCA (p.Pro217=) c.1705_1708delinsCCCA (p.Pro569=) c.691_694delinsCCCA (p.Pro231=) c.415_418delinsCCCA (p.Pro139=) c.331_334delinsCCCA (p.Pro111=) | |
| 4 | g.660490_660492del | CA658822823 | PDE6B | c.1491_1493del (p.Thr498del) c.654_656del (p.Thr219del) c.1710_1712del (p.Thr571del) c.696_698del (p.Thr233del) c.420_422del (p.Thr141del) c.336_338del (p.Thr113del) | ClinVar dbSNP gnomAD v4 |
| 4 | g.660487C>A | CA91087353 | PDE6B | c.1488C>A (p.Pro496=) c.651C>A (p.Pro217=) c.1707C>A (p.Pro569=) c.693C>A (p.Pro231=) c.417C>A (p.Pro139=) c.333C>A (p.Pro111=) | dbSNP |
| 4 | g.660487C= | CA1432855098 | PDE6B | c.1488C= (p.Pro496=) c.651C= (p.Pro217=) c.1707C= (p.Pro569=) c.693C= (p.Pro231=) c.417C= (p.Pro139=) c.333C= (p.Pro111=) | |
| 4 | g.660487C>G | CA437897670 | PDE6B | c.1488C>G (p.Pro496=) c.651C>G (p.Pro217=) c.1707C>G (p.Pro569=) c.693C>G (p.Pro231=) c.417C>G (p.Pro139=) c.333C>G (p.Pro111=) | |
| 4 | g.660487C>T | CA437897671 | PDE6B | c.1488C>T (p.Pro496=) c.651C>T (p.Pro217=) c.1707C>T (p.Pro569=) c.693C>T (p.Pro231=) c.417C>T (p.Pro139=) c.333C>T (p.Pro111=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.660488A>C | CA355915786 | PDE6B | c.1489A>C (p.Thr497Pro) c.652A>C (p.Thr218Pro) c.1708A>C (p.Thr570Pro) c.694A>C (p.Thr232Pro) c.418A>C (p.Thr140Pro) c.334A>C (p.Thr112Pro) | |
| 4 | g.660488A>G | CA355915787 | PDE6B | c.1489A>G (p.Thr497Ala) c.652A>G (p.Thr218Ala) c.1708A>G (p.Thr570Ala) c.694A>G (p.Thr232Ala) c.418A>G (p.Thr140Ala) c.334A>G (p.Thr112Ala) | |
| 4 | g.660488A>T | CA355915789 | PDE6B | c.1489A>T (p.Thr497Ser) c.652A>T (p.Thr218Ser) c.1708A>T (p.Thr570Ser) c.694A>T (p.Thr232Ser) c.418A>T (p.Thr140Ser) c.334A>T (p.Thr112Ser) | |
| 4 | g.660489C>A | CA355915791 | PDE6B | c.1490C>A (p.Thr497Asn) c.653C>A (p.Thr218Asn) c.1709C>A (p.Thr570Asn) c.695C>A (p.Thr232Asn) c.419C>A (p.Thr140Asn) c.335C>A (p.Thr112Asn) | |
| 4 | g.660489C>G | CA355915793 | PDE6B | c.1490C>G (p.Thr497Ser) c.653C>G (p.Thr218Ser) c.1709C>G (p.Thr570Ser) c.695C>G (p.Thr232Ser) c.419C>G (p.Thr140Ser) c.335C>G (p.Thr112Ser) | COSMIC |
| 4 | g.660489C>T | CA355915795 | PDE6B | c.1490C>T (p.Thr497Ile) c.653C>T (p.Thr218Ile) c.1709C>T (p.Thr570Ile) c.695C>T (p.Thr232Ile) c.419C>T (p.Thr140Ile) c.335C>T (p.Thr112Ile) | COSMIC |
| 4 | g.660490C>A | CA437897673 | PDE6B | c.1491C>A (p.Thr497=) c.654C>A (p.Thr218=) c.1710C>A (p.Thr570=) c.696C>A (p.Thr232=) c.420C>A (p.Thr140=) c.336C>A (p.Thr112=) | |
| 4 | g.660490C= | CA1432855110 | PDE6B | c.1491C= (p.Thr497=) c.654C= (p.Thr218=) c.1710C= (p.Thr570=) c.696C= (p.Thr232=) c.420C= (p.Thr140=) c.336C= (p.Thr112=) | |
| 4 | g.660490C>G | CA437897674 | PDE6B | c.1491C>G (p.Thr497=) c.654C>G (p.Thr218=) c.1710C>G (p.Thr570=) c.696C>G (p.Thr232=) c.420C>G (p.Thr140=) c.336C>G (p.Thr112=) | |
| 4 | g.660490C>T | CA2794556 | PDE6B | c.1491C>T (p.Thr497=) c.654C>T (p.Thr218=) c.1710C>T (p.Thr570=) c.696C>T (p.Thr232=) c.420C>T (p.Thr140=) c.336C>T (p.Thr112=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.660491A= | CA1432855111 | PDE6B | c.1492A= (p.Thr498=) c.655A= (p.Thr219=) c.1711A= (p.Thr571=) c.697A= (p.Thr233=) c.421A= (p.Thr141=) c.337A= (p.Thr113=) | |
| 4 | g.660491A>C | CA355915801 | PDE6B | c.1492A>C (p.Thr498Pro) c.655A>C (p.Thr219Pro) c.1711A>C (p.Thr571Pro) c.697A>C (p.Thr233Pro) c.421A>C (p.Thr141Pro) c.337A>C (p.Thr113Pro) | |
| 4 | g.660491A>G | CA355915799 | PDE6B | c.1492A>G (p.Thr498Ala) c.655A>G (p.Thr219Ala) c.1711A>G (p.Thr571Ala) c.697A>G (p.Thr233Ala) c.421A>G (p.Thr141Ala) c.337A>G (p.Thr113Ala) | gnomAD v4 |
| 4 | g.660491A>T | CA2794557 | PDE6B | c.1492A>T (p.Thr498Ser) c.655A>T (p.Thr219Ser) c.1711A>T (p.Thr571Ser) c.697A>T (p.Thr233Ser) c.421A>T (p.Thr141Ser) c.337A>T (p.Thr113Ser) | dbSNP ExAC gnomAD v2 |
| 4 | g.660492C>A | CA355915802 | PDE6B | c.1493C>A (p.Thr498Lys) c.656C>A (p.Thr219Lys) c.1712C>A (p.Thr571Lys) c.698C>A (p.Thr233Lys) c.422C>A (p.Thr141Lys) c.338C>A (p.Thr113Lys) | |
| 4 | g.660492C= | CA1432855115 | PDE6B | c.1493C= (p.Thr498=) c.656C= (p.Thr219=) c.1712C= (p.Thr571=) c.698C= (p.Thr233=) c.422C= (p.Thr141=) c.338C= (p.Thr113=) | |
| 4 | g.660492C>G | CA2794558 | PDE6B | c.1493C>G (p.Thr498Arg) c.656C>G (p.Thr219Arg) c.1712C>G (p.Thr571Arg) c.698C>G (p.Thr233Arg) c.422C>G (p.Thr141Arg) c.338C>G (p.Thr113Arg) | dbSNP ExAC gnomAD v2 |
| 4 | g.660492C>T | CA2794559 | PDE6B | c.1493C>T (p.Thr498Ile) c.656C>T (p.Thr219Ile) c.1712C>T (p.Thr571Ile) c.698C>T (p.Thr233Ile) c.422C>T (p.Thr141Ile) c.338C>T (p.Thr113Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.660493A= | CA1432855124 | PDE6B | c.1494A= (p.Thr498=) c.657A= (p.Thr219=) c.1713A= (p.Thr571=) c.699A= (p.Thr233=) c.423A= (p.Thr141=) c.339A= (p.Thr113=) | |
| 4 | g.660493A>C | CA437897676 | PDE6B | c.1494A>C (p.Thr498=) c.657A>C (p.Thr219=) c.1713A>C (p.Thr571=) c.699A>C (p.Thr233=) c.423A>C (p.Thr141=) c.339A>C (p.Thr113=) | |
| 4 | g.660493A>G | CA2794560 | PDE6B | c.1494A>G (p.Thr498=) c.657A>G (p.Thr219=) c.1713A>G (p.Thr571=) c.699A>G (p.Thr233=) c.423A>G (p.Thr141=) c.339A>G (p.Thr113=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.660493A>T | CA437897677 | PDE6B | c.1494A>T (p.Thr498=) c.657A>T (p.Thr219=) c.1713A>T (p.Thr571=) c.699A>T (p.Thr233=) c.423A>T (p.Thr141=) c.339A>T (p.Thr113=) | |
| 4 | g.660494T>A | CA355915806 | PDE6B | c.1495T>A (p.Phe499Ile) c.658T>A (p.Phe220Ile) c.1714T>A (p.Phe572Ile) c.700T>A (p.Phe234Ile) c.424T>A (p.Phe142Ile) c.340T>A (p.Phe114Ile) | |
| 4 | g.660494T>C | CA355915807 | PDE6B | c.1495T>C (p.Phe499Leu) c.658T>C (p.Phe220Leu) c.1714T>C (p.Phe572Leu) c.700T>C (p.Phe234Leu) c.424T>C (p.Phe142Leu) c.340T>C (p.Phe114Leu) | |
| 4 | g.660494T>G | CA355915809 | PDE6B | c.1495T>G (p.Phe499Val) c.658T>G (p.Phe220Val) c.1714T>G (p.Phe572Val) c.700T>G (p.Phe234Val) c.424T>G (p.Phe142Val) c.340T>G (p.Phe114Val) | |
| 4 | g.660495T>A | CA355915811 | PDE6B | c.1496T>A (p.Phe499Tyr) c.659T>A (p.Phe220Tyr) c.1715T>A (p.Phe572Tyr) c.701T>A (p.Phe234Tyr) c.425T>A (p.Phe142Tyr) c.341T>A (p.Phe114Tyr) | |
| 4 | g.660495T>C | CA355915814 | PDE6B | c.1496T>C (p.Phe499Ser) c.659T>C (p.Phe220Ser) c.1715T>C (p.Phe572Ser) c.701T>C (p.Phe234Ser) c.425T>C (p.Phe142Ser) c.341T>C (p.Phe114Ser) | |
| 4 | g.660495T>G | CA355915815 | PDE6B | c.1496T>G (p.Phe499Cys) c.659T>G (p.Phe220Cys) c.1715T>G (p.Phe572Cys) c.701T>G (p.Phe234Cys) c.425T>G (p.Phe142Cys) c.341T>G (p.Phe114Cys) | |
| 4 | g.660496T>A | CA355915817 | PDE6B | c.1497T>A (p.Phe499Leu) c.660T>A (p.Phe220Leu) c.1716T>A (p.Phe572Leu) c.702T>A (p.Phe234Leu) c.426T>A (p.Phe142Leu) c.342T>A (p.Phe114Leu) | |
| 4 | g.660496T>C | CA437897681 | PDE6B | c.1497T>C (p.Phe499=) c.660T>C (p.Phe220=) c.1716T>C (p.Phe572=) c.702T>C (p.Phe234=) c.426T>C (p.Phe142=) c.342T>C (p.Phe114=) | |
| 4 | g.660496T>G | CA2794561 | PDE6B | c.1497T>G (p.Phe499Leu) c.660T>G (p.Phe220Leu) c.1716T>G (p.Phe572Leu) c.702T>G (p.Phe234Leu) c.426T>G (p.Phe142Leu) c.342T>G (p.Phe114Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.660496T= | CA1432855134 | PDE6B | c.1497T= (p.Phe499=) c.660T= (p.Phe220=) c.1716T= (p.Phe572=) c.702T= (p.Phe234=) c.426T= (p.Phe142=) c.342T= (p.Phe114=) | |
| 4 | g.660497G>A | CA355915821 | PDE6B | c.1498G>A (p.Asp500Asn) c.661G>A (p.Asp221Asn) c.1717G>A (p.Asp573Asn) c.703G>A (p.Asp235Asn) c.427G>A (p.Asp143Asn) c.343G>A (p.Asp115Asn) | |
| 4 | g.660497G>C | CA355915823 | PDE6B | c.1498G>C (p.Asp500His) c.661G>C (p.Asp221His) c.1717G>C (p.Asp573His) c.703G>C (p.Asp235His) c.427G>C (p.Asp143His) c.343G>C (p.Asp115His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.660497G= | CA1432855137 | PDE6B | c.1498G= (p.Asp500=) c.661G= (p.Asp221=) c.1717G= (p.Asp573=) c.703G= (p.Asp235=) c.427G= (p.Asp143=) c.343G= (p.Asp115=) | |
| 4 | g.660497G>T | CA355915820 | PDE6B | c.1498G>T (p.Asp500Tyr) c.661G>T (p.Asp221Tyr) c.1717G>T (p.Asp573Tyr) c.703G>T (p.Asp235Tyr) c.427G>T (p.Asp143Tyr) c.343G>T (p.Asp115Tyr) | ClinVar dbSNP |
| 4 | g.660498A= | CA1432855139 | PDE6B | c.1499A= (p.Asp500=) c.662A= (p.Asp221=) c.1718A= (p.Asp573=) c.704A= (p.Asp235=) c.428A= (p.Asp143=) c.344A= (p.Asp115=) | |
| 4 | g.660498A>C | CA355915825 | PDE6B | c.1499A>C (p.Asp500Ala) c.662A>C (p.Asp221Ala) c.1718A>C (p.Asp573Ala) c.704A>C (p.Asp235Ala) c.428A>C (p.Asp143Ala) c.344A>C (p.Asp115Ala) | |
| 4 | g.660498A>G | CA355915827 | PDE6B | c.1499A>G (p.Asp500Gly) c.662A>G (p.Asp221Gly) c.1718A>G (p.Asp573Gly) c.704A>G (p.Asp235Gly) c.428A>G (p.Asp143Gly) c.344A>G (p.Asp115Gly) | |
| 4 | g.660498A>T | CA2794562 | PDE6B | c.1499A>T (p.Asp500Val) c.662A>T (p.Asp221Val) c.1718A>T (p.Asp573Val) c.704A>T (p.Asp235Val) c.428A>T (p.Asp143Val) c.344A>T (p.Asp115Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.660499C>A | CA355915830 | PDE6B | c.1500C>A (p.Asp500Glu) c.663C>A (p.Asp221Glu) c.1719C>A (p.Asp573Glu) c.705C>A (p.Asp235Glu) c.429C>A (p.Asp143Glu) c.345C>A (p.Asp115Glu) | gnomAD v4 |
| 4 | g.660499C>G | CA355915834 | PDE6B | c.1500C>G (p.Asp500Glu) c.663C>G (p.Asp221Glu) c.1719C>G (p.Asp573Glu) c.705C>G (p.Asp235Glu) c.429C>G (p.Asp143Glu) c.345C>G (p.Asp115Glu) |