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.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.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) | |
| 4 | g.660499C>T | CA437897683 | PDE6B | c.1500C>T (p.Asp500=) c.663C>T (p.Asp221=) c.1719C>T (p.Asp573=) c.705C>T (p.Asp235=) c.429C>T (p.Asp143=) c.345C>T (p.Asp115=) | |
| 4 | g.660500A= | CA1432855144 | PDE6B | c.1501A= (p.Ile501=) c.664A= (p.Ile222=) c.1720A= (p.Ile574=) c.706A= (p.Ile236=) c.430A= (p.Ile144=) c.346A= (p.Ile116=) | |
| 4 | g.660500A>C | CA355915840 | PDE6B | c.1501A>C (p.Ile501Leu) c.664A>C (p.Ile222Leu) c.1720A>C (p.Ile574Leu) c.706A>C (p.Ile236Leu) c.430A>C (p.Ile144Leu) c.346A>C (p.Ile116Leu) | dbSNP |
| 4 | g.660500A>G | CA2794563 | PDE6B | c.1501A>G (p.Ile501Val) c.664A>G (p.Ile222Val) c.1720A>G (p.Ile574Val) c.706A>G (p.Ile236Val) c.430A>G (p.Ile144Val) c.346A>G (p.Ile116Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.660500A>T | CA355915838 | PDE6B | c.1501A>T (p.Ile501Phe) c.664A>T (p.Ile222Phe) c.1720A>T (p.Ile574Phe) c.706A>T (p.Ile236Phe) c.430A>T (p.Ile144Phe) c.346A>T (p.Ile116Phe) | |
| 4 | g.660501T>A | CA355915842 | PDE6B | c.1502T>A (p.Ile501Asn) c.665T>A (p.Ile222Asn) c.1721T>A (p.Ile574Asn) c.707T>A (p.Ile236Asn) c.431T>A (p.Ile144Asn) c.347T>A (p.Ile116Asn) | |
| 4 | g.660501T>C | CA355915844 | PDE6B | c.1502T>C (p.Ile501Thr) c.665T>C (p.Ile222Thr) c.1721T>C (p.Ile574Thr) c.707T>C (p.Ile236Thr) c.431T>C (p.Ile144Thr) c.347T>C (p.Ile116Thr) | dbSNP |
| 4 | g.660501T>G | CA355915845 | PDE6B | c.1502T>G (p.Ile501Ser) c.665T>G (p.Ile222Ser) c.1721T>G (p.Ile574Ser) c.707T>G (p.Ile236Ser) c.431T>G (p.Ile144Ser) c.347T>G (p.Ile116Ser) | |
| 4 | g.660501T= | CA1432855151 | PDE6B | c.1502T= (p.Ile501=) c.665T= (p.Ile222=) c.1721T= (p.Ile574=) c.707T= (p.Ile236=) c.431T= (p.Ile144=) c.347T= (p.Ile116=) | |
| 4 | g.660502C>A | CA437897687 | PDE6B | c.1503C>A (p.Ile501=) c.666C>A (p.Ile222=) c.1722C>A (p.Ile574=) c.708C>A (p.Ile236=) c.432C>A (p.Ile144=) c.348C>A (p.Ile116=) | |
| 4 | g.660502C= | CA1432855159 | PDE6B | c.1503C= (p.Ile501=) c.666C= (p.Ile222=) c.1722C= (p.Ile574=) c.708C= (p.Ile236=) c.432C= (p.Ile144=) c.348C= (p.Ile116=) | |
| 4 | g.660502C>G | CA355915848 | PDE6B | c.1503C>G (p.Ile501Met) c.666C>G (p.Ile222Met) c.1722C>G (p.Ile574Met) c.708C>G (p.Ile236Met) c.432C>G (p.Ile144Met) c.348C>G (p.Ile116Met) | |
| 4 | g.660502C>T | CA2794564 | PDE6B | c.1503C>T (p.Ile501=) c.666C>T (p.Ile222=) c.1722C>T (p.Ile574=) c.708C>T (p.Ile236=) c.432C>T (p.Ile144=) c.348C>T (p.Ile116=) | dbSNP ExAC gnomAD v2 |