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 |
|---|---|---|---|---|---|
| 6 | g.51912501T>A | CA364439835 | PKHD1 | c.6197A>T (p.Asp2066Val) c.5555A>T (p.Asp1852Val) c.5486A>T (p.Asp1829Val) c.272A>T (p.Asp91Val) c.6122A>T (p.Asp2041Val) c.5933A>T (p.Asp1978Val) c.4337A>T (p.Asp1446Val) n.6473A>T | gnomAD v4 |
| 6 | g.51912501T>C | CA364439836 | PKHD1 | c.6197A>G (p.Asp2066Gly) c.5555A>G (p.Asp1852Gly) c.5486A>G (p.Asp1829Gly) c.272A>G (p.Asp91Gly) c.6122A>G (p.Asp2041Gly) c.5933A>G (p.Asp1978Gly) c.4337A>G (p.Asp1446Gly) n.6473A>G | |
| 6 | g.51912501T>G | CA364439837 | PKHD1 | c.6197A>C (p.Asp2066Ala) c.5555A>C (p.Asp1852Ala) c.5486A>C (p.Asp1829Ala) c.272A>C (p.Asp91Ala) c.6122A>C (p.Asp2041Ala) c.5933A>C (p.Asp1978Ala) c.4337A>C (p.Asp1446Ala) n.6473A>C | |
| 6 | g.51912502C>A | CA364439838 | PKHD1 | c.6196G>T (p.Asp2066Tyr) c.5554G>T (p.Asp1852Tyr) c.5485G>T (p.Asp1829Tyr) c.271G>T (p.Asp91Tyr) c.6121G>T (p.Asp2041Tyr) c.5932G>T (p.Asp1978Tyr) c.4336G>T (p.Asp1446Tyr) n.6472G>T | |
| 6 | g.51912502C>G | CA364439840 | PKHD1 | c.6196G>C (p.Asp2066His) c.5554G>C (p.Asp1852His) c.5485G>C (p.Asp1829His) c.271G>C (p.Asp91His) c.6121G>C (p.Asp2041His) c.5932G>C (p.Asp1978His) c.4336G>C (p.Asp1446His) n.6472G>C | |
| 6 | g.51912502C>T | CA364439839 | PKHD1 | c.6196G>A (p.Asp2066Asn) c.5554G>A (p.Asp1852Asn) c.5485G>A (p.Asp1829Asn) c.271G>A (p.Asp91Asn) c.6121G>A (p.Asp2041Asn) c.5932G>A (p.Asp1978Asn) c.4336G>A (p.Asp1446Asn) n.6472G>A | |
| 6 | g.51912503T>A | CA364439841 | PKHD1 | c.6195A>T (p.Glu2065Asp) c.5553A>T (p.Glu1851Asp) c.5484A>T (p.Glu1828Asp) c.270A>T (p.Glu90Asp) c.6120A>T (p.Glu2040Asp) c.5931A>T (p.Glu1977Asp) c.4335A>T (p.Glu1445Asp) n.6471A>T | |
| 6 | g.51912503T>C | CA450415999 | PKHD1 | c.6195A>G (p.Glu2065=) c.5553A>G (p.Glu1851=) c.5484A>G (p.Glu1828=) c.270A>G (p.Glu90=) c.6120A>G (p.Glu2040=) c.5931A>G (p.Glu1977=) c.4335A>G (p.Glu1445=) n.6471A>G | |
| 6 | g.51912503T>G | CA364439842 | PKHD1 | c.6195A>C (p.Glu2065Asp) c.5553A>C (p.Glu1851Asp) c.5484A>C (p.Glu1828Asp) c.270A>C (p.Glu90Asp) c.6120A>C (p.Glu2040Asp) c.5931A>C (p.Glu1977Asp) c.4335A>C (p.Glu1445Asp) n.6471A>C | |
| 6 | g.51912504T>A | CA364439843 | PKHD1 | c.6194A>T (p.Glu2065Val) c.5552A>T (p.Glu1851Val) c.5483A>T (p.Glu1828Val) c.269A>T (p.Glu90Val) c.6119A>T (p.Glu2040Val) c.5930A>T (p.Glu1977Val) c.4334A>T (p.Glu1445Val) n.6470A>T | |
| 6 | g.51912504T>C | CA364439844 | PKHD1 | c.6194A>G (p.Glu2065Gly) c.5552A>G (p.Glu1851Gly) c.5483A>G (p.Glu1828Gly) c.269A>G (p.Glu90Gly) c.6119A>G (p.Glu2040Gly) c.5930A>G (p.Glu1977Gly) c.4334A>G (p.Glu1445Gly) n.6470A>G | |
| 6 | g.51912504T>G | CA364439845 | PKHD1 | c.6194A>C (p.Glu2065Ala) c.5552A>C (p.Glu1851Ala) c.5483A>C (p.Glu1828Ala) c.269A>C (p.Glu90Ala) c.6119A>C (p.Glu2040Ala) c.5930A>C (p.Glu1977Ala) c.4334A>C (p.Glu1445Ala) n.6470A>C | |
| 6 | g.51912505C>A | CA364439846 | PKHD1 | c.6193G>T (p.Glu2065Ter) c.5551G>T (p.Glu1851Ter) c.5482G>T (p.Glu1828Ter) c.268G>T (p.Glu90Ter) c.6118G>T (p.Glu2040Ter) c.5929G>T (p.Glu1977Ter) c.4333G>T (p.Glu1445Ter) n.6469G>T | |
| 6 | g.51912505C>G | CA364439847 | PKHD1 | c.6193G>C (p.Glu2065Gln) c.5551G>C (p.Glu1851Gln) c.5482G>C (p.Glu1828Gln) c.268G>C (p.Glu90Gln) c.6118G>C (p.Glu2040Gln) c.5929G>C (p.Glu1977Gln) c.4333G>C (p.Glu1445Gln) n.6469G>C | dbSNP |
| 6 | g.51912505C>T | CA364439848 | PKHD1 | c.6193G>A (p.Glu2065Lys) c.5551G>A (p.Glu1851Lys) c.5482G>A (p.Glu1828Lys) c.268G>A (p.Glu90Lys) c.6118G>A (p.Glu2040Lys) c.5929G>A (p.Glu1977Lys) c.4333G>A (p.Glu1445Lys) n.6469G>A | |
| 6 | g.51912506T>A | CA364439849 | PKHD1 | c.6192A>T (p.Leu2064Phe) c.5550A>T (p.Leu1850Phe) c.5481A>T (p.Leu1827Phe) c.267A>T (p.Leu89Phe) c.6117A>T (p.Leu2039Phe) c.5928A>T (p.Leu1976Phe) c.4332A>T (p.Leu1444Phe) n.6468A>T | |
| 6 | g.51912506T>C | CA450416000 | PKHD1 | c.6192A>G (p.Leu2064=) c.5550A>G (p.Leu1850=) c.5481A>G (p.Leu1827=) c.267A>G (p.Leu89=) c.6117A>G (p.Leu2039=) c.5928A>G (p.Leu1976=) c.4332A>G (p.Leu1444=) n.6468A>G | |
| 6 | g.51912506T>G | CA364439850 | PKHD1 | c.6192A>C (p.Leu2064Phe) c.5550A>C (p.Leu1850Phe) c.5481A>C (p.Leu1827Phe) c.267A>C (p.Leu89Phe) c.6117A>C (p.Leu2039Phe) c.5928A>C (p.Leu1976Phe) c.4332A>C (p.Leu1444Phe) n.6468A>C | |
| 6 | g.51912507A>C | CA364439853 | PKHD1 | c.6191T>G (p.Leu2064Ter) c.5549T>G (p.Leu1850Ter) c.5480T>G (p.Leu1827Ter) c.266T>G (p.Leu89Ter) c.6116T>G (p.Leu2039Ter) c.5927T>G (p.Leu1976Ter) c.4331T>G (p.Leu1444Ter) n.6467T>G | |
| 6 | g.51912507A>G | CA364439852 | PKHD1 | c.6191T>C (p.Leu2064Ser) c.5549T>C (p.Leu1850Ser) c.5480T>C (p.Leu1827Ser) c.266T>C (p.Leu89Ser) c.6116T>C (p.Leu2039Ser) c.5927T>C (p.Leu1976Ser) c.4331T>C (p.Leu1444Ser) n.6467T>C | |
| 6 | g.51912507A>T | CA364439851 | PKHD1 | c.6191T>A (p.Leu2064Ter) c.5549T>A (p.Leu1850Ter) c.5480T>A (p.Leu1827Ter) c.266T>A (p.Leu89Ter) c.6116T>A (p.Leu2039Ter) c.5927T>A (p.Leu1976Ter) c.4331T>A (p.Leu1444Ter) n.6467T>A | |
| 6 | g.51912508A>C | CA364439854 | PKHD1 | c.6190T>G (p.Leu2064Val) c.5548T>G (p.Leu1850Val) c.5479T>G (p.Leu1827Val) c.265T>G (p.Leu89Val) c.6115T>G (p.Leu2039Val) c.5926T>G (p.Leu1976Val) c.4330T>G (p.Leu1444Val) n.6466T>G | |
| 6 | g.51912508A>G | CA450416001 | PKHD1 | c.6190T>C (p.Leu2064=) c.5548T>C (p.Leu1850=) c.5479T>C (p.Leu1827=) c.265T>C (p.Leu89=) c.6115T>C (p.Leu2039=) c.5926T>C (p.Leu1976=) c.4330T>C (p.Leu1444=) n.6466T>C | |
| 6 | g.51912508A>T | CA364439855 | PKHD1 | c.6190T>A (p.Leu2064Ile) c.5548T>A (p.Leu1850Ile) c.5479T>A (p.Leu1827Ile) c.265T>A (p.Leu89Ile) c.6115T>A (p.Leu2039Ile) c.5926T>A (p.Leu1976Ile) c.4330T>A (p.Leu1444Ile) n.6466T>A | |
| 6 | g.51912509A= | CA1628583438 | PKHD1 | c.6189T= (p.Ala2063=) c.5547T= (p.Ala1849=) c.5478T= (p.Ala1826=) c.264T= (p.Ala88=) c.6114T= (p.Ala2038=) c.5925T= (p.Ala1975=) c.4329T= (p.Ala1443=) n.6465T= | |
| 6 | g.51912509A>C | CA450416002 | PKHD1 | c.6189T>G (p.Ala2063=) c.5547T>G (p.Ala1849=) c.5478T>G (p.Ala1826=) c.264T>G (p.Ala88=) c.6114T>G (p.Ala2038=) c.5925T>G (p.Ala1975=) c.4329T>G (p.Ala1443=) n.6465T>G | |
| 6 | g.51912509A>G | CA450416003 | PKHD1 | c.6189T>C (p.Ala2063=) c.5547T>C (p.Ala1849=) c.5478T>C (p.Ala1826=) c.264T>C (p.Ala88=) c.6114T>C (p.Ala2038=) c.5925T>C (p.Ala1975=) c.4329T>C (p.Ala1443=) n.6465T>C | |
| 6 | g.51912509A>T | CA3852314 | PKHD1 | c.6189T>A (p.Ala2063=) c.5547T>A (p.Ala1849=) c.5478T>A (p.Ala1826=) c.264T>A (p.Ala88=) c.6114T>A (p.Ala2038=) c.5925T>A (p.Ala1975=) c.4329T>A (p.Ala1443=) n.6465T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.51912510G>A | CA364439856 | PKHD1 | c.6188C>T (p.Ala2063Val) c.5546C>T (p.Ala1849Val) c.5477C>T (p.Ala1826Val) c.263C>T (p.Ala88Val) c.6113C>T (p.Ala2038Val) c.5924C>T (p.Ala1975Val) c.4328C>T (p.Ala1443Val) n.6464C>T | gnomAD v4 |
| 6 | g.51912510G>C | CA3852315 | PKHD1 | c.6188C>G (p.Ala2063Gly) c.5546C>G (p.Ala1849Gly) c.5477C>G (p.Ala1826Gly) c.263C>G (p.Ala88Gly) c.6113C>G (p.Ala2038Gly) c.5924C>G (p.Ala1975Gly) c.4328C>G (p.Ala1443Gly) n.6464C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.51912510G= | CA1628583444 | PKHD1 | c.6188C= (p.Ala2063=) c.5546C= (p.Ala1849=) c.5477C= (p.Ala1826=) c.263C= (p.Ala88=) c.6113C= (p.Ala2038=) c.5924C= (p.Ala1975=) c.4328C= (p.Ala1443=) n.6464C= | |
| 6 | g.51912510G>T | CA364439857 | PKHD1 | c.6188C>A (p.Ala2063Asp) c.5546C>A (p.Ala1849Asp) c.5477C>A (p.Ala1826Asp) c.263C>A (p.Ala88Asp) c.6113C>A (p.Ala2038Asp) c.5924C>A (p.Ala1975Asp) c.4328C>A (p.Ala1443Asp) n.6464C>A | COSMIC COSMIC |
| 6 | g.51912511C>A | CA364439858 | PKHD1 | c.6187G>T (p.Ala2063Ser) c.5545G>T (p.Ala1849Ser) c.5476G>T (p.Ala1826Ser) c.262G>T (p.Ala88Ser) c.6112G>T (p.Ala2038Ser) c.5923G>T (p.Ala1975Ser) c.4327G>T (p.Ala1443Ser) n.6463G>T | |
| 6 | g.51912511C= | CA1628583448 | PKHD1 | c.6187G= (p.Ala2063=) c.5545G= (p.Ala1849=) c.5476G= (p.Ala1826=) c.262G= (p.Ala88=) c.6112G= (p.Ala2038=) c.5923G= (p.Ala1975=) c.4327G= (p.Ala1443=) n.6463G= | |
| 6 | g.51912511C>G | CA364439859 | PKHD1 | c.6187G>C (p.Ala2063Pro) c.5545G>C (p.Ala1849Pro) c.5476G>C (p.Ala1826Pro) c.262G>C (p.Ala88Pro) c.6112G>C (p.Ala2038Pro) c.5923G>C (p.Ala1975Pro) c.4327G>C (p.Ala1443Pro) n.6463G>C | |
| 6 | g.51912511C>T | CA3852316 | PKHD1 | c.6187G>A (p.Ala2063Thr) c.5545G>A (p.Ala1849Thr) c.5476G>A (p.Ala1826Thr) c.262G>A (p.Ala88Thr) c.6112G>A (p.Ala2038Thr) c.5923G>A (p.Ala1975Thr) c.4327G>A (p.Ala1443Thr) n.6463G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912512del | CA2580075501 | PKHD1 | c.6187del (p.Ala2063LeufsTer2) c.5545del (p.Ala1849LeufsTer2) c.5476del (p.Ala1826LeufsTer2) c.262del (p.Ala88LeufsTer2) c.6112del (p.Ala2038LeufsTer2) c.5923del (p.Ala1975LeufsTer2) c.4327del (p.Ala1443LeufsTer2) n.6463del | ClinVar |
| 6 | g.51912512C>A | CA450416004 | PKHD1 | c.6186G>T (p.Leu2062=) c.5544G>T (p.Leu1848=) c.5475G>T (p.Leu1825=) c.261G>T (p.Leu87=) c.6111G>T (p.Leu2037=) c.5922G>T (p.Leu1974=) c.4326G>T (p.Leu1442=) n.6462G>T | ClinVar |
| 6 | g.51912512C>G | CA450416005 | PKHD1 | c.6186G>C (p.Leu2062=) c.5544G>C (p.Leu1848=) c.5475G>C (p.Leu1825=) c.261G>C (p.Leu87=) c.6111G>C (p.Leu2037=) c.5922G>C (p.Leu1974=) c.4326G>C (p.Leu1442=) n.6462G>C | |
| 6 | g.51912512C>T | CA450416006 | PKHD1 | c.6186G>A (p.Leu2062=) c.5544G>A (p.Leu1848=) c.5475G>A (p.Leu1825=) c.261G>A (p.Leu87=) c.6111G>A (p.Leu2037=) c.5922G>A (p.Leu1974=) c.4326G>A (p.Leu1442=) n.6462G>A | |
| 6 | g.51912513A>C | CA364439860 | PKHD1 | c.6185T>G (p.Leu2062Arg) c.5543T>G (p.Leu1848Arg) c.5474T>G (p.Leu1825Arg) c.260T>G (p.Leu87Arg) c.6110T>G (p.Leu2037Arg) c.5921T>G (p.Leu1974Arg) c.4325T>G (p.Leu1442Arg) n.6461T>G | |
| 6 | g.51912513A>G | CA364439861 | PKHD1 | c.6185T>C (p.Leu2062Pro) c.5543T>C (p.Leu1848Pro) c.5474T>C (p.Leu1825Pro) c.260T>C (p.Leu87Pro) c.6110T>C (p.Leu2037Pro) c.5921T>C (p.Leu1974Pro) c.4325T>C (p.Leu1442Pro) n.6461T>C | |
| 6 | g.51912513A>T | CA364439862 | PKHD1 | c.6185T>A (p.Leu2062Gln) c.5543T>A (p.Leu1848Gln) c.5474T>A (p.Leu1825Gln) c.260T>A (p.Leu87Gln) c.6110T>A (p.Leu2037Gln) c.5921T>A (p.Leu1974Gln) c.4325T>A (p.Leu1442Gln) n.6461T>A | |
| 6 | g.51912514G>A | CA3852317 | PKHD1 | c.6184C>T (p.Leu2062=) c.5542C>T (p.Leu1848=) c.5473C>T (p.Leu1825=) c.259C>T (p.Leu87=) c.6109C>T (p.Leu2037=) c.5920C>T (p.Leu1974=) c.4324C>T (p.Leu1442=) n.6460C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912514G>C | CA364439863 | PKHD1 | c.6184C>G (p.Leu2062Val) c.5542C>G (p.Leu1848Val) c.5473C>G (p.Leu1825Val) c.259C>G (p.Leu87Val) c.6109C>G (p.Leu2037Val) c.5920C>G (p.Leu1974Val) c.4324C>G (p.Leu1442Val) n.6460C>G | |
| 6 | g.51912514G= | CA1628583454 | PKHD1 | c.6184C= (p.Leu2062=) c.5542C= (p.Leu1848=) c.5473C= (p.Leu1825=) c.259C= (p.Leu87=) c.6109C= (p.Leu2037=) c.5920C= (p.Leu1974=) c.4324C= (p.Leu1442=) n.6460C= | |
| 6 | g.51912514G>T | CA364439864 | PKHD1 | c.6184C>A (p.Leu2062Met) c.5542C>A (p.Leu1848Met) c.5473C>A (p.Leu1825Met) c.259C>A (p.Leu87Met) c.6109C>A (p.Leu2037Met) c.5920C>A (p.Leu1974Met) c.4324C>A (p.Leu1442Met) n.6460C>A | COSMIC COSMIC |
| 6 | g.51912515C>A | CA450416009 | PKHD1 | c.6183G>T (p.Val2061=) c.5541G>T (p.Val1847=) c.5472G>T (p.Val1824=) c.258G>T (p.Val86=) c.6108G>T (p.Val2036=) c.5919G>T (p.Val1973=) c.4323G>T (p.Val1441=) n.6459G>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.51912515C= | CA1628583460 | PKHD1 | c.6183G= (p.Val2061=) c.5541G= (p.Val1847=) c.5472G= (p.Val1824=) c.258G= (p.Val86=) c.6108G= (p.Val2036=) c.5919G= (p.Val1973=) c.4323G= (p.Val1441=) n.6459G= | |
| 6 | g.51912515C>G | CA450416008 | PKHD1 | c.6183G>C (p.Val2061=) c.5541G>C (p.Val1847=) c.5472G>C (p.Val1824=) c.258G>C (p.Val86=) c.6108G>C (p.Val2036=) c.5919G>C (p.Val1973=) c.4323G>C (p.Val1441=) n.6459G>C |