WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149883511C>A | CA361692620 | PDE6A | c.2053G>T (p.Val685Leu) n.2237G>T c.1810G>T (p.Val604Leu) c.1507G>T (p.Val503Leu) c.1168G>T (p.Val390Leu) c.1006G>T (p.Val336Leu) c.976G>T (p.Val326Leu) | |
| 5 | g.149883511C= | CA1590694638 | PDE6A | c.2053G= (p.Val685=) n.2237G= c.1810G= (p.Val604=) c.1507G= (p.Val503=) c.1168G= (p.Val390=) c.1006G= (p.Val336=) c.976G= (p.Val326=) | |
| 5 | g.149883511C>G | CA361692624 | PDE6A | c.2053G>C (p.Val685Leu) n.2237G>C c.1810G>C (p.Val604Leu) c.1507G>C (p.Val503Leu) c.1168G>C (p.Val390Leu) c.1006G>C (p.Val336Leu) c.976G>C (p.Val326Leu) | |
| 5 | g.149883511C>T | CA259675 | PDE6A | c.2053G>A (p.Val685Met) n.2237G>A c.1810G>A (p.Val604Met) c.1507G>A (p.Val503Met) c.1168G>A (p.Val390Met) c.1006G>A (p.Val336Met) c.976G>A (p.Val326Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149883512G>A | CA3504417 | PDE6A | c.2052C>T (p.Ile684=) n.2236C>T c.1809C>T (p.Ile603=) c.1506C>T (p.Ile502=) c.1167C>T (p.Ile389=) c.1005C>T (p.Ile335=) c.975C>T (p.Ile325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149883512G>C | CA361692630 | PDE6A | c.2052C>G (p.Ile684Met) n.2236C>G c.1809C>G (p.Ile603Met) c.1506C>G (p.Ile502Met) c.1167C>G (p.Ile389Met) c.1005C>G (p.Ile335Met) c.975C>G (p.Ile325Met) | gnomAD v4 |
| 5 | g.149883512G= | CA1590694639 | PDE6A | c.2052C= (p.Ile684=) n.2236C= c.1809C= (p.Ile603=) c.1506C= (p.Ile502=) c.1167C= (p.Ile389=) c.1005C= (p.Ile335=) c.975C= (p.Ile325=) | |
| 5 | g.149883512G>T | CA447141112 | PDE6A | c.2052C>A (p.Ile684=) n.2236C>A c.1809C>A (p.Ile603=) c.1506C>A (p.Ile502=) c.1167C>A (p.Ile389=) c.1005C>A (p.Ile335=) c.975C>A (p.Ile325=) | gnomAD v4 |
| 5 | g.149883513A>C | CA361692633 | PDE6A | c.2051T>G (p.Ile684Ser) n.2235T>G c.1808T>G (p.Ile603Ser) c.1505T>G (p.Ile502Ser) c.1166T>G (p.Ile389Ser) c.1004T>G (p.Ile335Ser) c.974T>G (p.Ile325Ser) | |
| 5 | g.149883513A>G | CA361692634 | PDE6A | c.2051T>C (p.Ile684Thr) n.2235T>C c.1808T>C (p.Ile603Thr) c.1505T>C (p.Ile502Thr) c.1166T>C (p.Ile389Thr) c.1004T>C (p.Ile335Thr) c.974T>C (p.Ile325Thr) | |
| 5 | g.149883513A>T | CA361692636 | PDE6A | c.2051T>A (p.Ile684Asn) n.2235T>A c.1808T>A (p.Ile603Asn) c.1505T>A (p.Ile502Asn) c.1166T>A (p.Ile389Asn) c.1004T>A (p.Ile335Asn) c.974T>A (p.Ile325Asn) | |
| 5 | g.149883514T>A | CA361692641 | PDE6A | c.2050A>T (p.Ile684Phe) n.2234A>T c.1807A>T (p.Ile603Phe) c.1504A>T (p.Ile502Phe) c.1165A>T (p.Ile389Phe) c.1003A>T (p.Ile335Phe) c.973A>T (p.Ile325Phe) | |
| 5 | g.149883514T>C | CA361692642 | PDE6A | c.2050A>G (p.Ile684Val) n.2234A>G c.1807A>G (p.Ile603Val) c.1504A>G (p.Ile502Val) c.1165A>G (p.Ile389Val) c.1003A>G (p.Ile335Val) c.973A>G (p.Ile325Val) | |
| 5 | g.149883514T>G | CA361692639 | PDE6A | c.2050A>C (p.Ile684Leu) n.2234A>C c.1807A>C (p.Ile603Leu) c.1504A>C (p.Ile502Leu) c.1165A>C (p.Ile389Leu) c.1003A>C (p.Ile335Leu) c.973A>C (p.Ile325Leu) | gnomAD v4 |
| 5 | g.149883515C>A | CA361692645 | PDE6A | c.2049G>T (p.Lys683Asn) n.2233G>T c.1806G>T (p.Lys602Asn) c.1503G>T (p.Lys501Asn) c.1164G>T (p.Lys388Asn) c.1002G>T (p.Lys334Asn) c.972G>T (p.Lys324Asn) | |
| 5 | g.149883515C>G | CA361692648 | PDE6A | c.2049G>C (p.Lys683Asn) n.2233G>C c.1806G>C (p.Lys602Asn) c.1503G>C (p.Lys501Asn) c.1164G>C (p.Lys388Asn) c.1002G>C (p.Lys334Asn) c.972G>C (p.Lys324Asn) | |
| 5 | g.149883515C>T | CA447141113 | PDE6A | c.2049G>A (p.Lys683=) n.2233G>A c.1806G>A (p.Lys602=) c.1503G>A (p.Lys501=) c.1164G>A (p.Lys388=) c.1002G>A (p.Lys334=) c.972G>A (p.Lys324=) | |
| 5 | g.149883516T>A | CA361692650 | PDE6A | c.2048A>T (p.Lys683Met) n.2232A>T c.1805A>T (p.Lys602Met) c.1502A>T (p.Lys501Met) c.1163A>T (p.Lys388Met) c.1001A>T (p.Lys334Met) c.971A>T (p.Lys324Met) | |
| 5 | g.149883516T>C | CA361692652 | PDE6A | c.2048A>G (p.Lys683Arg) n.2232A>G c.1805A>G (p.Lys602Arg) c.1502A>G (p.Lys501Arg) c.1163A>G (p.Lys388Arg) c.1001A>G (p.Lys334Arg) c.971A>G (p.Lys324Arg) | |
| 5 | g.149883516T>G | CA361692654 | PDE6A | c.2048A>C (p.Lys683Thr) n.2232A>C c.1805A>C (p.Lys602Thr) c.1502A>C (p.Lys501Thr) c.1163A>C (p.Lys388Thr) c.1001A>C (p.Lys334Thr) c.971A>C (p.Lys324Thr) | ClinVar |
| 5 | g.149883517T>A | CA361692657 | PDE6A | c.2047A>T (p.Lys683Ter) n.2231A>T c.1804A>T (p.Lys602Ter) c.1501A>T (p.Lys501Ter) c.1162A>T (p.Lys388Ter) c.1000A>T (p.Lys334Ter) c.970A>T (p.Lys324Ter) | |
| 5 | g.149883517T>C | CA361692658 | PDE6A | c.2047A>G (p.Lys683Glu) n.2231A>G c.1804A>G (p.Lys602Glu) c.1501A>G (p.Lys501Glu) c.1162A>G (p.Lys388Glu) c.1000A>G (p.Lys334Glu) c.970A>G (p.Lys324Glu) | |
| 5 | g.149883517T>G | CA361692660 | PDE6A | c.2047A>C (p.Lys683Gln) n.2231A>C c.1804A>C (p.Lys602Gln) c.1501A>C (p.Lys501Gln) c.1162A>C (p.Lys388Gln) c.1000A>C (p.Lys334Gln) c.970A>C (p.Lys324Gln) | |
| 5 | g.149883518T>A | CA361692663 | PDE6A | c.2046A>T (p.Gln682His) n.2230A>T c.1803A>T (p.Gln601His) c.1500A>T (p.Gln500His) c.1161A>T (p.Gln387His) c.999A>T (p.Gln333His) c.969A>T (p.Gln323His) | |
| 5 | g.149883518T>C | CA3504418 | PDE6A | c.2046A>G (p.Gln682=) n.2230A>G c.1803A>G (p.Gln601=) c.1500A>G (p.Gln500=) c.1161A>G (p.Gln387=) c.999A>G (p.Gln333=) c.969A>G (p.Gln323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149883518T>G | CA361692665 | PDE6A | c.2046A>C (p.Gln682His) n.2230A>C c.1803A>C (p.Gln601His) c.1500A>C (p.Gln500His) c.1161A>C (p.Gln387His) c.999A>C (p.Gln333His) c.969A>C (p.Gln323His) | |
| 5 | g.149883518T= | CA1590694640 | PDE6A | c.2046A= (p.Gln682=) n.2230A= c.1803A= (p.Gln601=) c.1500A= (p.Gln500=) c.1161A= (p.Gln387=) c.999A= (p.Gln333=) c.969A= (p.Gln323=) | |
| 5 | g.149883519T>A | CA361692670 | PDE6A | c.2045A>T (p.Gln682Leu) n.2229A>T c.1802A>T (p.Gln601Leu) c.1499A>T (p.Gln500Leu) c.1160A>T (p.Gln387Leu) c.998A>T (p.Gln333Leu) c.968A>T (p.Gln323Leu) | |
| 5 | g.149883519T>C | CA361692671 | PDE6A | c.2045A>G (p.Gln682Arg) n.2229A>G c.1802A>G (p.Gln601Arg) c.1499A>G (p.Gln500Arg) c.1160A>G (p.Gln387Arg) c.998A>G (p.Gln333Arg) c.968A>G (p.Gln323Arg) | gnomAD v4 |
| 5 | g.149883519T>G | CA361692668 | PDE6A | c.2045A>C (p.Gln682Pro) n.2229A>C c.1802A>C (p.Gln601Pro) c.1499A>C (p.Gln500Pro) c.1160A>C (p.Gln387Pro) c.998A>C (p.Gln333Pro) c.968A>C (p.Gln323Pro) | |
| 5 | g.149883520G>A | CA361692674 | PDE6A | c.2044C>T (p.Gln682Ter) n.2228C>T c.1801C>T (p.Gln601Ter) c.1498C>T (p.Gln500Ter) c.1159C>T (p.Gln387Ter) c.997C>T (p.Gln333Ter) c.967C>T (p.Gln323Ter) | gnomAD v4 |
| 5 | g.149883520G>C | CA361692677 | PDE6A | c.2044C>G (p.Gln682Glu) n.2228C>G c.1801C>G (p.Gln601Glu) c.1498C>G (p.Gln500Glu) c.1159C>G (p.Gln387Glu) c.997C>G (p.Gln333Glu) c.967C>G (p.Gln323Glu) | |
| 5 | g.149883520G>T | CA361692680 | PDE6A | c.2044C>A (p.Gln682Lys) n.2228C>A c.1801C>A (p.Gln601Lys) c.1498C>A (p.Gln500Lys) c.1159C>A (p.Gln387Lys) c.997C>A (p.Gln333Lys) c.967C>A (p.Gln323Lys) | |
| 5 | g.149883521G>A | CA447141114 | PDE6A | c.2043C>T (p.Phe681=) n.2227C>T c.1800C>T (p.Phe600=) c.1497C>T (p.Phe499=) c.1158C>T (p.Phe386=) c.996C>T (p.Phe332=) c.966C>T (p.Phe322=) | |
| 5 | g.149883521G>C | CA361692682 | PDE6A | c.2043C>G (p.Phe681Leu) n.2227C>G c.1800C>G (p.Phe600Leu) c.1497C>G (p.Phe499Leu) c.1158C>G (p.Phe386Leu) c.996C>G (p.Phe332Leu) c.966C>G (p.Phe322Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149883521G= | CA1590694641 | PDE6A | c.2043C= (p.Phe681=) n.2227C= c.1800C= (p.Phe600=) c.1497C= (p.Phe499=) c.1158C= (p.Phe386=) c.996C= (p.Phe332=) c.966C= (p.Phe322=) | |
| 5 | g.149883521G>T | CA361692685 | PDE6A | c.2043C>A (p.Phe681Leu) n.2227C>A c.1800C>A (p.Phe600Leu) c.1497C>A (p.Phe499Leu) c.1158C>A (p.Phe386Leu) c.996C>A (p.Phe332Leu) c.966C>A (p.Phe322Leu) | |
| 5 | g.149883522A>C | CA361692691 | PDE6A | c.2042T>G (p.Phe681Cys) n.2226T>G c.1799T>G (p.Phe600Cys) c.1496T>G (p.Phe499Cys) c.1157T>G (p.Phe386Cys) c.995T>G (p.Phe332Cys) c.965T>G (p.Phe322Cys) | |
| 5 | g.149883522A>G | CA361692686 | PDE6A | c.2042T>C (p.Phe681Ser) n.2226T>C c.1799T>C (p.Phe600Ser) c.1496T>C (p.Phe499Ser) c.1157T>C (p.Phe386Ser) c.995T>C (p.Phe332Ser) c.965T>C (p.Phe322Ser) | gnomAD v4 |
| 5 | g.149883522A>T | CA361692689 | PDE6A | c.2042T>A (p.Phe681Tyr) n.2226T>A c.1799T>A (p.Phe600Tyr) c.1496T>A (p.Phe499Tyr) c.1157T>A (p.Phe386Tyr) c.995T>A (p.Phe332Tyr) c.965T>A (p.Phe322Tyr) | |
| 5 | g.149883523A= | CA1590694642 | PDE6A | c.2041T= (p.Phe681=) n.2225T= c.1798T= (p.Phe600=) c.1495T= (p.Phe499=) c.1156T= (p.Phe386=) c.994T= (p.Phe332=) c.964T= (p.Phe322=) | |
| 5 | g.149883523A>C | CA361692694 | PDE6A | c.2041T>G (p.Phe681Val) n.2225T>G c.1798T>G (p.Phe600Val) c.1495T>G (p.Phe499Val) c.1156T>G (p.Phe386Val) c.994T>G (p.Phe332Val) c.964T>G (p.Phe322Val) | |
| 5 | g.149883523A>G | CA361692696 | PDE6A | c.2041T>C (p.Phe681Leu) n.2225T>C c.1798T>C (p.Phe600Leu) c.1495T>C (p.Phe499Leu) c.1156T>C (p.Phe386Leu) c.994T>C (p.Phe332Leu) c.964T>C (p.Phe322Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149883523A>T | CA361692699 | PDE6A | c.2041T>A (p.Phe681Ile) n.2225T>A c.1798T>A (p.Phe600Ile) c.1495T>A (p.Phe499Ile) c.1156T>A (p.Phe386Ile) c.994T>A (p.Phe332Ile) c.964T>A (p.Phe322Ile) | |
| 5 | g.149883524C>A | CA361692702 | PDE6A | c.2040G>T (p.Met680Ile) n.2224G>T c.1797G>T (p.Met599Ile) c.1494G>T (p.Met498Ile) c.1155G>T (p.Met385Ile) c.993G>T (p.Met331Ile) c.963G>T (p.Met321Ile) | |
| 5 | g.149883524C>G | CA361692703 | PDE6A | c.2040G>C (p.Met680Ile) n.2224G>C c.1797G>C (p.Met599Ile) c.1494G>C (p.Met498Ile) c.1155G>C (p.Met385Ile) c.993G>C (p.Met331Ile) c.963G>C (p.Met321Ile) | |
| 5 | g.149883524C>T | CA361692705 | PDE6A | c.2040G>A (p.Met680Ile) n.2224G>A c.1797G>A (p.Met599Ile) c.1494G>A (p.Met498Ile) c.1155G>A (p.Met385Ile) c.993G>A (p.Met331Ile) c.963G>A (p.Met321Ile) | |
| 5 | g.149883525A>C | CA361692710 | PDE6A | c.2039T>G (p.Met680Arg) n.2223T>G c.1796T>G (p.Met599Arg) c.1493T>G (p.Met498Arg) c.1154T>G (p.Met385Arg) c.992T>G (p.Met331Arg) c.962T>G (p.Met321Arg) | |
| 5 | g.149883525A>G | CA361692712 | PDE6A | c.2039T>C (p.Met680Thr) n.2223T>C c.1796T>C (p.Met599Thr) c.1493T>C (p.Met498Thr) c.1154T>C (p.Met385Thr) c.992T>C (p.Met331Thr) c.962T>C (p.Met321Thr) | |
| 5 | g.149883525A>T | CA361692708 | PDE6A | c.2039T>A (p.Met680Lys) n.2223T>A c.1796T>A (p.Met599Lys) c.1493T>A (p.Met498Lys) c.1154T>A (p.Met385Lys) c.992T>A (p.Met331Lys) c.962T>A (p.Met321Lys) |