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 |
|---|---|---|---|---|---|
| 8 | g.37772753A= | CA1777240028 | PLPBP | c.320-2A= (n.320-2A=) c.*172-2A= (n.*172-2A=) n.1A= c.164-2A= (n.164-2A=) c.77-2A= (n.77-2A=) c.314-2A= (n.314-2A=) | |
| 8 | g.37772753A>C | CA370667664 | PLPBP | c.320-2A>C (n.320-2A>C) c.*172-2A>C (n.*172-2A>C) n.1A>C c.164-2A>C (n.164-2A>C) c.77-2A>C (n.77-2A>C) c.314-2A>C (n.314-2A>C) | |
| 8 | g.37772753A>G | CA16044176 | PLPBP | c.320-2A>G (n.320-2A>G) c.*172-2A>G (n.*172-2A>G) n.1A>G c.164-2A>G (n.164-2A>G) c.77-2A>G (n.77-2A>G) c.314-2A>G (n.314-2A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772753A>T | CA370667665 | PLPBP | c.320-2A>T (n.320-2A>T) c.*172-2A>T (n.*172-2A>T) n.1A>T c.164-2A>T (n.164-2A>T) c.77-2A>T (n.77-2A>T) c.314-2A>T (n.314-2A>T) | |
| 8 | g.37772754G>A | CA370667666 | PLPBP | c.320-1G>A (n.320-1G>A) c.*172-1G>A (n.*172-1G>A) n.2G>A c.164-1G>A (n.164-1G>A) c.77-1G>A (n.77-1G>A) c.314-1G>A (n.314-1G>A) | |
| 8 | g.37772754G>C | CA370667667 | PLPBP | c.320-1G>C (n.320-1G>C) c.*172-1G>C (n.*172-1G>C) n.2G>C c.164-1G>C (n.164-1G>C) c.77-1G>C (n.77-1G>C) c.314-1G>C (n.314-1G>C) | |
| 8 | g.37772754G>T | CA370667668 | PLPBP | c.320-1G>T (n.320-1G>T) c.*172-1G>T (n.*172-1G>T) n.2G>T c.164-1G>T (n.164-1G>T) c.77-1G>T (n.77-1G>T) c.314-1G>T (n.314-1G>T) | |
| 8 | g.37772755C>A | CA370667669 | PLPBP | c.320C>A (p.Ala107Asp) c.*172C>A (n.*172C>A) n.3C>A c.164C>A (p.Ala55Asp) c.77C>A (p.Ala26Asp) c.314C>A (p.Ala105Asp) | |
| 8 | g.37772755C>G | CA370667670 | PLPBP | c.320C>G (p.Ala107Gly) c.*172C>G (n.*172C>G) n.3C>G c.164C>G (p.Ala55Gly) c.77C>G (p.Ala26Gly) c.314C>G (p.Ala105Gly) | |
| 8 | g.37772755C>T | CA370667671 | PLPBP | c.320C>T (p.Ala107Val) c.*172C>T (n.*172C>T) n.3C>T c.164C>T (p.Ala55Val) c.77C>T (p.Ala26Val) c.314C>T (p.Ala105Val) | |
| 8 | g.37772756T>A | CA460359089 | PLPBP | c.321T>A (p.Ala107=) c.*173T>A (n.*173T>A) n.4T>A c.165T>A (p.Ala55=) c.78T>A (p.Ala26=) c.315T>A (p.Ala105=) | |
| 8 | g.37772756T>C | CA460359090 | PLPBP | c.321T>C (p.Ala107=) c.*173T>C (n.*173T>C) n.4T>C c.165T>C (p.Ala55=) c.78T>C (p.Ala26=) c.315T>C (p.Ala105=) | ClinVar |
| 8 | g.37772756T>G | CA460359091 | PLPBP | c.321T>G (p.Ala107=) c.*173T>G (n.*173T>G) n.4T>G c.165T>G (p.Ala55=) c.78T>G (p.Ala26=) c.315T>G (p.Ala105=) | COSMIC |
| 8 | g.37772757G>A | CA4711212 | PLPBP | c.322G>A (p.Val108Ile) c.*174G>A (n.*174G>A) n.5G>A c.166G>A (p.Val56Ile) c.79G>A (p.Val27Ile) c.316G>A (p.Val106Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772757G>C | CA4711211 | PLPBP | c.322G>C (p.Val108Leu) c.*174G>C (n.*174G>C) n.5G>C c.166G>C (p.Val56Leu) c.79G>C (p.Val27Leu) c.316G>C (p.Val106Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37772757G= | CA1777240029 | PLPBP | c.322G= (p.Val108=) c.*174G= (n.*174G=) n.5G= c.166G= (p.Val56=) c.79G= (p.Val27=) c.316G= (p.Val106=) | |
| 8 | g.37772757G>T | CA370667672 | PLPBP | c.322G>T (p.Val108Phe) c.*174G>T (n.*174G>T) n.5G>T c.166G>T (p.Val56Phe) c.79G>T (p.Val27Phe) c.316G>T (p.Val106Phe) | |
| 8 | g.37772758T>A | CA370667675 | PLPBP | c.323T>A (p.Val108Asp) c.*175T>A (n.*175T>A) n.6T>A c.167T>A (p.Val56Asp) c.80T>A (p.Val27Asp) c.317T>A (p.Val106Asp) | |
| 8 | g.37772758T>C | CA370667674 | PLPBP | c.323T>C (p.Val108Ala) c.*175T>C (n.*175T>C) n.6T>C c.167T>C (p.Val56Ala) c.80T>C (p.Val27Ala) c.317T>C (p.Val106Ala) | |
| 8 | g.37772758T>G | CA370667673 | PLPBP | c.323T>G (p.Val108Gly) c.*175T>G (n.*175T>G) n.6T>G c.167T>G (p.Val56Gly) c.80T>G (p.Val27Gly) c.317T>G (p.Val106Gly) | |
| 8 | g.37772759C>A | CA460359092 | PLPBP | c.324C>A (p.Val108=) c.*176C>A (n.*176C>A) n.7C>A c.168C>A (p.Val56=) c.81C>A (p.Val27=) c.318C>A (p.Val106=) | |
| 8 | g.37772759C= | CA1777240030 | PLPBP | c.324C= (p.Val108=) c.*176C= (n.*176C=) n.7C= c.168C= (p.Val56=) c.81C= (p.Val27=) c.318C= (p.Val106=) | |
| 8 | g.37772759C>G | CA460359093 | PLPBP | c.324C>G (p.Val108=) c.*176C>G (n.*176C>G) n.7C>G c.168C>G (p.Val56=) c.81C>G (p.Val27=) c.318C>G (p.Val106=) | |
| 8 | g.37772759C>T | CA4711213 | PLPBP | c.324C>T (p.Val108=) c.*176C>T (n.*176C>T) n.7C>T c.168C>T (p.Val56=) c.81C>T (p.Val27=) c.318C>T (p.Val106=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772760C>A | CA370667678 | PLPBP | c.325C>A (p.Pro109Thr) c.*177C>A (n.*177C>A) n.8C>A c.169C>A (p.Pro57Thr) c.82C>A (p.Pro28Thr) c.319C>A (p.Pro107Thr) | gnomAD v4 |
| 8 | g.37772760C>G | CA370667676 | PLPBP | c.325C>G (p.Pro109Ala) c.*177C>G (n.*177C>G) n.8C>G c.169C>G (p.Pro57Ala) c.82C>G (p.Pro28Ala) c.319C>G (p.Pro107Ala) | |
| 8 | g.37772760C>T | CA370667677 | PLPBP | c.325C>T (p.Pro109Ser) c.*177C>T (n.*177C>T) n.8C>T c.169C>T (p.Pro57Ser) c.82C>T (p.Pro28Ser) c.319C>T (p.Pro107Ser) | |
| 8 | g.37772761C>A | CA370667679 | PLPBP | c.326C>A (p.Pro109His) c.*178C>A (n.*178C>A) n.9C>A c.170C>A (p.Pro57His) c.83C>A (p.Pro28His) c.320C>A (p.Pro107His) | |
| 8 | g.37772761C>G | CA370667680 | PLPBP | c.326C>G (p.Pro109Arg) c.*178C>G (n.*178C>G) n.9C>G c.170C>G (p.Pro57Arg) c.83C>G (p.Pro28Arg) c.320C>G (p.Pro107Arg) | |
| 8 | g.37772761C>T | CA370667681 | PLPBP | c.326C>T (p.Pro109Leu) c.*178C>T (n.*178C>T) n.9C>T c.170C>T (p.Pro57Leu) c.83C>T (p.Pro28Leu) c.320C>T (p.Pro107Leu) | |
| 8 | g.37772762C>A | CA460359094 | PLPBP | c.327C>A (p.Pro109=) c.*179C>A (n.*179C>A) n.10C>A c.171C>A (p.Pro57=) c.84C>A (p.Pro28=) c.321C>A (p.Pro107=) | |
| 8 | g.37772762C>G | CA460359095 | PLPBP | c.327C>G (p.Pro109=) c.*179C>G (n.*179C>G) n.10C>G c.171C>G (p.Pro57=) c.84C>G (p.Pro28=) c.321C>G (p.Pro107=) | |
| 8 | g.37772762C>T | CA460359096 | PLPBP | c.327C>T (p.Pro109=) c.*179C>T (n.*179C>T) n.10C>T c.171C>T (p.Pro57=) c.84C>T (p.Pro28=) c.321C>T (p.Pro107=) | COSMIC |
| 8 | g.37772763A>C | CA370667682 | PLPBP | c.328A>C (p.Asn110His) c.*180A>C (n.*180A>C) n.11A>C c.172A>C (p.Asn58His) c.85A>C (p.Asn29His) c.322A>C (p.Asn108His) | |
| 8 | g.37772763A>G | CA370667683 | PLPBP | c.328A>G (p.Asn110Asp) c.*180A>G (n.*180A>G) n.11A>G c.172A>G (p.Asn58Asp) c.85A>G (p.Asn29Asp) c.322A>G (p.Asn108Asp) | |
| 8 | g.37772763A>T | CA370667684 | PLPBP | c.328A>T (p.Asn110Tyr) c.*180A>T (n.*180A>T) n.11A>T c.172A>T (p.Asn58Tyr) c.85A>T (p.Asn29Tyr) c.322A>T (p.Asn108Tyr) | gnomAD v4 |
| 8 | g.37772764A= | CA1777240031 | PLPBP | c.329A= (p.Asn110=) c.*181A= (n.*181A=) n.12A= c.173A= (p.Asn58=) c.86A= (p.Asn29=) c.323A= (p.Asn108=) | |
| 8 | g.37772764A>C | CA370667685 | PLPBP | c.329A>C (p.Asn110Thr) c.*181A>C (n.*181A>C) n.12A>C c.173A>C (p.Asn58Thr) c.86A>C (p.Asn29Thr) c.323A>C (p.Asn108Thr) | |
| 8 | g.37772764A>G | CA175037955 | PLPBP | c.329A>G (p.Asn110Ser) c.*181A>G (n.*181A>G) n.12A>G c.173A>G (p.Asn58Ser) c.86A>G (p.Asn29Ser) c.323A>G (p.Asn108Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772764A>T | CA4711214 | PLPBP | c.329A>T (p.Asn110Ile) c.*181A>T (n.*181A>T) n.12A>T c.173A>T (p.Asn58Ile) c.86A>T (p.Asn29Ile) c.323A>T (p.Asn108Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37772765T>A | CA370667686 | PLPBP | c.330T>A (p.Asn110Lys) c.*182T>A (n.*182T>A) n.13T>A c.174T>A (p.Asn58Lys) c.87T>A (p.Asn29Lys) c.324T>A (p.Asn108Lys) | |
| 8 | g.37772765T>C | CA460359097 | PLPBP | c.330T>C (p.Asn110=) c.*182T>C (n.*182T>C) n.13T>C c.174T>C (p.Asn58=) c.87T>C (p.Asn29=) c.324T>C (p.Asn108=) | |
| 8 | g.37772765T>G | CA370667687 | PLPBP | c.330T>G (p.Asn110Lys) c.*182T>G (n.*182T>G) n.13T>G c.174T>G (p.Asn58Lys) c.87T>G (p.Asn29Lys) c.324T>G (p.Asn108Lys) | |
| 8 | g.37772766C>A | CA370667689 | PLPBP | c.331C>A (p.Leu111Ile) c.*183C>A (n.*183C>A) n.14C>A c.175C>A (p.Leu59Ile) c.88C>A (p.Leu30Ile) c.325C>A (p.Leu109Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772766C= | CA1777240032 | PLPBP | c.331C= (p.Leu111=) c.*183C= (n.*183C=) n.14C= c.175C= (p.Leu59=) c.88C= (p.Leu30=) c.325C= (p.Leu109=) | |
| 8 | g.37772766C>G | CA370667688 | PLPBP | c.331C>G (p.Leu111Val) c.*183C>G (n.*183C>G) n.14C>G c.175C>G (p.Leu59Val) c.88C>G (p.Leu30Val) c.325C>G (p.Leu109Val) | dbSNP |
| 8 | g.37772766C>T | CA4711215 | PLPBP | c.331C>T (p.Leu111Phe) c.*183C>T (n.*183C>T) n.14C>T c.175C>T (p.Leu59Phe) c.88C>T (p.Leu30Phe) c.325C>T (p.Leu109Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37772767T>A | CA370667690 | PLPBP | c.332T>A (p.Leu111His) c.*184T>A (n.*184T>A) n.15T>A c.176T>A (p.Leu59His) c.89T>A (p.Leu30His) c.326T>A (p.Leu109His) | |
| 8 | g.37772767T>C | CA370667691 | PLPBP | c.332T>C (p.Leu111Pro) c.*184T>C (n.*184T>C) n.15T>C c.176T>C (p.Leu59Pro) c.89T>C (p.Leu30Pro) c.326T>C (p.Leu109Pro) | |
| 8 | g.37772767T>G | CA370667692 | PLPBP | c.332T>G (p.Leu111Arg) c.*184T>G (n.*184T>G) n.15T>G c.176T>G (p.Leu59Arg) c.89T>G (p.Leu30Arg) c.326T>G (p.Leu109Arg) |