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 |
|---|---|---|---|---|---|
| 1 | g.173908360_173915405del | CA2573051419 | SERPINC1 | c.42-486_1154-846del c.42-486_560-867del c.-272-219_1010-846del c.42-486_1277-846del c.123-486_1235-846del c.42-486_1133-846del c.42-486_1097-846del c.42-486_938-846del | ClinVar |
| 1 | g.173910345_173913622del | CA2573051421 | SERPINC1 | c.408+948_763-386del n.113+948_414-386del c.408+948_559+1536del c.264+948_619-386del c.408+948_885+303del c.489+948_844-386del c.408+948_742-386del c.408+948_762+426del c.408+948_547-386del | ClinVar |
| 1 | g.173911379_173915115del | CA2573051422 | SERPINC1 | c.42-196_624+420del c.42-196_559+485del c.-201_480+420del c.123-196_705+420del c.42-196_409-488del | |
| 1 | g.173911749_173917428del | CA1139655524 | ClinVar | ||
| 1 | g.173911865G>A | CA421822977 | SERPINC1 | c.558C>T (p.Phe186=) n.263C>T c.414C>T (p.Phe138=) c.639C>T (p.Phe213=) c.409-974C>T (n.409-974C>T) | |
| 1 | g.173911865G>C | CA343776384 | SERPINC1 | c.558C>G (p.Phe186Leu) n.263C>G c.414C>G (p.Phe138Leu) c.639C>G (p.Phe213Leu) c.409-974C>G (n.409-974C>G) | |
| 1 | g.173911865G>T | CA343776386 | SERPINC1 | c.558C>A (p.Phe186Leu) n.263C>A c.414C>A (p.Phe138Leu) c.639C>A (p.Phe213Leu) c.409-974C>A (n.409-974C>A) | |
| 1 | g.173911866A>C | CA343776387 | SERPINC1 | c.557T>G (p.Phe186Cys) n.262T>G c.413T>G (p.Phe138Cys) c.638T>G (p.Phe213Cys) c.409-975T>G (n.409-975T>G) | |
| 1 | g.173911866A>G | CA343776389 | SERPINC1 | c.557T>C (p.Phe186Ser) n.262T>C c.413T>C (p.Phe138Ser) c.638T>C (p.Phe213Ser) c.409-975T>C (n.409-975T>C) | |
| 1 | g.173911866A>T | CA343776391 | SERPINC1 | c.557T>A (p.Phe186Tyr) n.262T>A c.413T>A (p.Phe138Tyr) c.638T>A (p.Phe213Tyr) c.409-975T>A (n.409-975T>A) | |
| 1 | g.173911867A>C | CA343776392 | SERPINC1 | c.556T>G (p.Phe186Val) n.261T>G c.412T>G (p.Phe138Val) c.637T>G (p.Phe213Val) c.409-976T>G (n.409-976T>G) | |
| 1 | g.173911867A>G | CA343776393 | SERPINC1 | c.556T>C (p.Phe186Leu) n.261T>C c.412T>C (p.Phe138Leu) c.637T>C (p.Phe213Leu) c.409-976T>C (n.409-976T>C) | |
| 1 | g.173911867A>T | CA343776395 | SERPINC1 | c.556T>A (p.Phe186Ile) n.261T>A c.412T>A (p.Phe138Ile) c.637T>A (p.Phe213Ile) c.409-976T>A (n.409-976T>A) | |
| 1 | g.173911868G>A | CA421822982 | SERPINC1 | c.555C>T (p.Thr185=) n.260C>T c.411C>T (p.Thr137=) c.636C>T (p.Thr212=) c.409-977C>T (n.409-977C>T) | |
| 1 | g.173911868G>C | CA421822983 | SERPINC1 | c.555C>G (p.Thr185=) n.260C>G c.411C>G (p.Thr137=) c.636C>G (p.Thr212=) c.409-977C>G (n.409-977C>G) | |
| 1 | g.173911868G>T | CA421822984 | SERPINC1 | c.555C>A (p.Thr185=) n.260C>A c.411C>A (p.Thr137=) c.636C>A (p.Thr212=) c.409-977C>A (n.409-977C>A) | gnomAD v4 |
| 1 | g.173911869G>A | CA343776400 | SERPINC1 | c.554C>T (p.Thr185Ile) n.259C>T c.410C>T (p.Thr137Ile) c.635C>T (p.Thr212Ile) c.409-978C>T (n.409-978C>T) | |
| 1 | g.173911869G>C | CA343776398 | SERPINC1 | c.554C>G (p.Thr185Ser) n.259C>G c.410C>G (p.Thr137Ser) c.635C>G (p.Thr212Ser) c.409-978C>G (n.409-978C>G) | |
| 1 | g.173911869G>T | CA343776397 | SERPINC1 | c.554C>A (p.Thr185Asn) n.259C>A c.410C>A (p.Thr137Asn) c.635C>A (p.Thr212Asn) c.409-978C>A (n.409-978C>A) | |
| 1 | g.173911870T>A | CA343776403 | SERPINC1 | c.553A>T (p.Thr185Ser) n.258A>T c.409A>T (p.Thr137Ser) c.634A>T (p.Thr212Ser) c.409-979A>T (n.409-979A>T) | gnomAD v4 |
| 1 | g.173911870T>C | CA1251401 | SERPINC1 | c.553A>G (p.Thr185Ala) n.258A>G c.409A>G (p.Thr137Ala) c.634A>G (p.Thr212Ala) c.409-979A>G (n.409-979A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173911870T>G | CA343776404 | SERPINC1 | c.553A>C (p.Thr185Pro) n.258A>C c.409A>C (p.Thr137Pro) c.634A>C (p.Thr212Pro) c.409-979A>C (n.409-979A>C) | |
| 1 | g.173911870T= | CA1147839071 | SERPINC1 | c.553A= (p.Thr185=) n.258A= c.409A= (p.Thr137=) c.634A= (p.Thr212=) c.409-979A= (n.409-979A=) | |
| 1 | g.173911871A= | CA1207937813 | SERPINC1 | c.552T= (p.Leu184=) n.257T= c.408T= (p.Leu136=) c.633T= (p.Leu211=) c.409-980T= (n.409-980T=) | |
| 1 | g.173911871A>C | CA421822989 | SERPINC1 | c.552T>G (p.Leu184=) n.257T>G c.408T>G (p.Leu136=) c.633T>G (p.Leu211=) c.409-980T>G (n.409-980T>G) | |
| 1 | g.173911871A>G | CA421822990 | SERPINC1 | c.552T>C (p.Leu184=) n.257T>C c.408T>C (p.Leu136=) c.633T>C (p.Leu211=) c.409-980T>C (n.409-980T>C) | dbSNP gnomAD v4 |
| 1 | g.173911871A>T | CA421822991 | SERPINC1 | c.552T>A (p.Leu184=) n.257T>A c.408T>A (p.Leu136=) c.633T>A (p.Leu211=) c.409-980T>A (n.409-980T>A) | |
| 1 | g.173911872A= | CA1207937815 | SERPINC1 | c.551T= (p.Leu184=) n.256T= c.407T= (p.Leu136=) c.632T= (p.Leu211=) c.409-981T= (n.409-981T=) | |
| 1 | g.173911872A>C | CA343776406 | SERPINC1 | c.551T>G (p.Leu184Arg) n.256T>G c.407T>G (p.Leu136Arg) c.632T>G (p.Leu211Arg) c.409-981T>G (n.409-981T>G) | dbSNP |
| 1 | g.173911872A>G | CA343776408 | SERPINC1 | c.551T>C (p.Leu184Pro) n.256T>C c.407T>C (p.Leu136Pro) c.632T>C (p.Leu211Pro) c.409-981T>C (n.409-981T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173911872A>T | CA343776407 | SERPINC1 | c.551T>A (p.Leu184His) n.256T>A c.407T>A (p.Leu136His) c.632T>A (p.Leu211His) c.409-981T>A (n.409-981T>A) | |
| 1 | g.173911872_173911873delinsAG | CA1207937814 | SERPINC1 | c.550_551delinsCT (p.Leu184=) n.255_256delinsCT c.406_407delinsCT (p.Leu136=) c.631_632delinsCT (p.Leu211=) c.409-982_409-981delinsCT (n.409-982_409-981delinsCT) | |
| 1 | g.173911873G>A | CA343776410 | SERPINC1 | c.550C>T (p.Leu184Phe) n.255C>T c.406C>T (p.Leu136Phe) c.631C>T (p.Leu211Phe) c.409-982C>T (n.409-982C>T) | |
| 1 | g.173911873G>C | CA343776411 | SERPINC1 | c.550C>G (p.Leu184Val) n.255C>G c.406C>G (p.Leu136Val) c.631C>G (p.Leu211Val) c.409-982C>G (n.409-982C>G) | |
| 1 | g.173911873G>T | CA343776413 | SERPINC1 | c.550C>A (p.Leu184Ile) n.255C>A c.406C>A (p.Leu136Ile) c.631C>A (p.Leu211Ile) c.409-982C>A (n.409-982C>A) | |
| 1 | g.173911873_173911875del | CA2695195504 | SERPINC1 | c.548_550del (p.Ser183_Leu184delinsPhe) n.253_255del c.404_406del (p.Ser135_Leu136delinsPhe) c.629_631del (p.Ser210_Leu211delinsPhe) c.409-984_409-982del (n.409-984_409-982del) | |
| 1 | g.173911875del | CA915943673 | SERPINC1 | c.550del (p.Thr185ProfsTer?) n.255del c.550del (p.Thr185ProfsTer18) c.406del (p.Thr137ProfsTer?) c.631del (p.Thr212ProfsTer?) c.409-982del (n.409-982del) | ClinVar dbSNP |
| 1 | g.173911874G>A | CA421822994 | SERPINC1 | c.549C>T (p.Ser183=) n.254C>T c.405C>T (p.Ser135=) c.630C>T (p.Ser210=) c.409-983C>T (n.409-983C>T) | gnomAD v4 |
| 1 | g.173911874G>C | CA421822995 | SERPINC1 | c.549C>G (p.Ser183=) n.254C>G c.405C>G (p.Ser135=) c.630C>G (p.Ser210=) c.409-983C>G (n.409-983C>G) | |
| 1 | g.173911874G>T | CA421822997 | SERPINC1 | c.549C>A (p.Ser183=) n.254C>A c.405C>A (p.Ser135=) c.630C>A (p.Ser210=) c.409-983C>A (n.409-983C>A) | |
| 1 | g.173911875G>A | CA343776415 | SERPINC1 | c.548C>T (p.Ser183Phe) n.253C>T c.404C>T (p.Ser135Phe) c.629C>T (p.Ser210Phe) c.409-984C>T (n.409-984C>T) | |
| 1 | g.173911875G>C | CA343776417 | SERPINC1 | c.548C>G (p.Ser183Cys) n.253C>G c.404C>G (p.Ser135Cys) c.629C>G (p.Ser210Cys) c.409-984C>G (n.409-984C>G) | |
| 1 | g.173911875G>T | CA343776418 | SERPINC1 | c.548C>A (p.Ser183Tyr) n.253C>A c.404C>A (p.Ser135Tyr) c.629C>A (p.Ser210Tyr) c.409-984C>A (n.409-984C>A) | |
| 1 | g.173911876A>C | CA343776420 | SERPINC1 | c.547T>G (p.Ser183Ala) n.252T>G c.403T>G (p.Ser135Ala) c.628T>G (p.Ser210Ala) c.409-985T>G (n.409-985T>G) | |
| 1 | g.173911876A>G | CA343776421 | SERPINC1 | c.547T>C (p.Ser183Pro) n.252T>C c.403T>C (p.Ser135Pro) c.628T>C (p.Ser210Pro) c.409-985T>C (n.409-985T>C) | ClinVar dbSNP |
| 1 | g.173911876A>T | CA343776423 | SERPINC1 | c.547T>A (p.Ser183Thr) n.252T>A c.403T>A (p.Ser135Thr) c.628T>A (p.Ser210Thr) c.409-985T>A (n.409-985T>A) | |
| 1 | g.173911877T>A | CA343776424 | SERPINC1 | c.546A>T (p.Lys182Asn) n.251A>T c.402A>T (p.Lys134Asn) c.627A>T (p.Lys209Asn) c.409-986A>T (n.409-986A>T) | |
| 1 | g.173911877T>C | CA421823003 | SERPINC1 | c.546A>G (p.Lys182=) n.251A>G c.402A>G (p.Lys134=) c.627A>G (p.Lys209=) c.409-986A>G (n.409-986A>G) | |
| 1 | g.173911877T>G | CA343776425 | SERPINC1 | c.546A>C (p.Lys182Asn) n.251A>C c.402A>C (p.Lys134Asn) c.627A>C (p.Lys209Asn) c.409-986A>C (n.409-986A>C) | |
| 1 | g.173911879del | CA2739292068 | SERPINC1 | c.546del (p.Lys182AsnfsTer?) n.251del c.546del (p.Lys182AsnfsTer21) c.402del (p.Lys134AsnfsTer?) c.627del (p.Lys209AsnfsTer?) c.409-986del (n.409-986del) |