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 |
|---|---|---|---|---|---|
| 11 | g.1759557_1759574dup | CA1947834679 | CTSD | c.296_313dup (p.Trp104_Val105insGlySerSerAsnLeuTrp) c.191_208dup (p.Trp69_Val70insGlySerSerAsnLeuTrp) c.275_292dup (p.Trp97_Val98insGlySerSerAsnLeuTrp) c.290_307dup (p.Trp102_Val103insGlySerSerAsnLeuTrp) n.2724_2741dup n.691_708dup c.*157_*174dup (n.*157_*174dup) c.251_268dup (p.Trp89_Val90insGlySerSerAsnLeuTrp) | dbSNP |
| 11 | g.1759569G>A | CA314368 | CTSD | c.299C>T (p.Ser100Phe) c.194C>T (p.Ser65Phe) c.278C>T (p.Ser93Phe) c.293C>T (p.Ser98Phe) n.2727C>T n.694C>T c.*160C>T (n.*160C>T) c.254C>T (p.Ser85Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759569G>C | CA379098318 | CTSD | c.299C>G (p.Ser100Cys) c.194C>G (p.Ser65Cys) c.278C>G (p.Ser93Cys) c.293C>G (p.Ser98Cys) n.2727C>G n.694C>G c.*160C>G (n.*160C>G) c.254C>G (p.Ser85Cys) | |
| 11 | g.1759569G= | CA1947834716 | CTSD | c.299C= (p.Ser100=) c.194C= (p.Ser65=) c.278C= (p.Ser93=) c.293C= (p.Ser98=) n.2727C= n.694C= c.*160C= (n.*160C=) c.254C= (p.Ser85=) | |
| 11 | g.1759569G>T | CA379098319 | CTSD | c.299C>A (p.Ser100Tyr) c.194C>A (p.Ser65Tyr) c.278C>A (p.Ser93Tyr) c.293C>A (p.Ser98Tyr) n.2727C>A n.694C>A c.*160C>A (n.*160C>A) c.254C>A (p.Ser85Tyr) | |
| 11 | g.1759570A>C | CA379098324 | CTSD | c.298T>G (p.Ser100Ala) c.193T>G (p.Ser65Ala) c.277T>G (p.Ser93Ala) c.292T>G (p.Ser98Ala) n.2726T>G n.693T>G c.*159T>G (n.*159T>G) c.253T>G (p.Ser85Ala) | |
| 11 | g.1759570A>G | CA379098323 | CTSD | c.298T>C (p.Ser100Pro) c.193T>C (p.Ser65Pro) c.277T>C (p.Ser93Pro) c.292T>C (p.Ser98Pro) n.2726T>C n.693T>C c.*159T>C (n.*159T>C) c.253T>C (p.Ser85Pro) | |
| 11 | g.1759570A>T | CA379098321 | CTSD | c.298T>A (p.Ser100Thr) c.193T>A (p.Ser65Thr) c.277T>A (p.Ser93Thr) c.292T>A (p.Ser98Thr) n.2726T>A n.693T>A c.*159T>A (n.*159T>A) c.253T>A (p.Ser85Thr) | |
| 11 | g.1759571G>A | CA471988439 | CTSD | c.297C>T (p.Gly99=) c.192C>T (p.Gly64=) c.276C>T (p.Gly92=) c.291C>T (p.Gly97=) n.2725C>T n.692C>T c.*158C>T (n.*158C>T) c.252C>T (p.Gly84=) | |
| 11 | g.1759571G>C | CA471988440 | CTSD | c.297C>G (p.Gly99=) c.192C>G (p.Gly64=) c.276C>G (p.Gly92=) c.291C>G (p.Gly97=) n.2725C>G n.692C>G c.*158C>G (n.*158C>G) c.252C>G (p.Gly84=) | |
| 11 | g.1759571G>T | CA471988442 | CTSD | c.297C>A (p.Gly99=) c.192C>A (p.Gly64=) c.276C>A (p.Gly92=) c.291C>A (p.Gly97=) n.2725C>A n.692C>A c.*158C>A (n.*158C>A) c.252C>A (p.Gly84=) | |
| 11 | g.1759572C>A | CA379098327 | CTSD | c.296G>T (p.Gly99Val) c.191G>T (p.Gly64Val) c.275G>T (p.Gly92Val) c.290G>T (p.Gly97Val) n.2724G>T n.691G>T c.*157G>T (n.*157G>T) c.251G>T (p.Gly84Val) | |
| 11 | g.1759572C= | CA1947834720 | CTSD | c.296G= (p.Gly99=) c.191G= (p.Gly64=) c.275G= (p.Gly92=) c.290G= (p.Gly97=) n.2724G= n.691G= c.*157G= (n.*157G=) c.251G= (p.Gly84=) | |
| 11 | g.1759572C>G | CA379098331 | CTSD | c.296G>C (p.Gly99Ala) c.191G>C (p.Gly64Ala) c.275G>C (p.Gly92Ala) c.290G>C (p.Gly97Ala) n.2724G>C n.691G>C c.*157G>C (n.*157G>C) c.251G>C (p.Gly84Ala) | dbSNP |
| 11 | g.1759572C>T | CA379098332 | CTSD | c.296G>A (p.Gly99Asp) c.191G>A (p.Gly64Asp) c.275G>A (p.Gly92Asp) c.290G>A (p.Gly97Asp) n.2724G>A n.691G>A c.*157G>A (n.*157G>A) c.251G>A (p.Gly84Asp) | |
| 11 | g.1759573C>A | CA379098335 | CTSD | c.295G>T (p.Gly99Cys) c.190G>T (p.Gly64Cys) c.274G>T (p.Gly92Cys) c.289G>T (p.Gly97Cys) n.2723G>T n.690G>T c.*156G>T (n.*156G>T) c.250G>T (p.Gly84Cys) | |
| 11 | g.1759573C>G | CA379098337 | CTSD | c.295G>C (p.Gly99Arg) c.190G>C (p.Gly64Arg) c.274G>C (p.Gly92Arg) c.289G>C (p.Gly97Arg) n.2723G>C n.690G>C c.*156G>C (n.*156G>C) c.250G>C (p.Gly84Arg) | |
| 11 | g.1759573C>T | CA379098339 | CTSD | c.295G>A (p.Gly99Ser) c.190G>A (p.Gly64Ser) c.274G>A (p.Gly92Ser) c.289G>A (p.Gly97Ser) n.2723G>A n.690G>A c.*156G>A (n.*156G>A) c.250G>A (p.Gly84Ser) | |
| 11 | g.1759574C>A | CA471988452 | CTSD | c.294G>T (p.Thr98=) c.189G>T (p.Thr63=) c.273G>T (p.Thr91=) c.288G>T (p.Thr96=) n.2722G>T n.689G>T c.*155G>T (n.*155G>T) c.249G>T (p.Thr83=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.1759574C= | CA1947834726 | CTSD | c.294G= (p.Thr98=) c.189G= (p.Thr63=) c.273G= (p.Thr91=) c.288G= (p.Thr96=) n.2722G= n.689G= c.*155G= (n.*155G=) c.249G= (p.Thr83=) | |
| 11 | g.1759574C>G | CA471988450 | CTSD | c.294G>C (p.Thr98=) c.189G>C (p.Thr63=) c.273G>C (p.Thr91=) c.288G>C (p.Thr96=) n.2722G>C n.689G>C c.*155G>C (n.*155G>C) c.249G>C (p.Thr83=) | |
| 11 | g.1759574C>T | CA290546 | CTSD | c.294G>A (p.Thr98=) c.189G>A (p.Thr63=) c.273G>A (p.Thr91=) c.288G>A (p.Thr96=) n.2722G>A n.689G>A c.*155G>A (n.*155G>A) c.249G>A (p.Thr83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759575G>A | CA5814238 | CTSD | c.293C>T (p.Thr98Met) c.188C>T (p.Thr63Met) c.272C>T (p.Thr91Met) c.287C>T (p.Thr96Met) n.2721C>T n.688C>T c.*154C>T (n.*154C>T) c.248C>T (p.Thr83Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1759575G>C | CA379098344 | CTSD | c.293C>G (p.Thr98Arg) c.188C>G (p.Thr63Arg) c.272C>G (p.Thr91Arg) c.287C>G (p.Thr96Arg) n.2721C>G n.688C>G c.*154C>G (n.*154C>G) c.248C>G (p.Thr83Arg) | ClinVar dbSNP |
| 11 | g.1759575G= | CA1947834733 | CTSD | c.293C= (p.Thr98=) c.188C= (p.Thr63=) c.272C= (p.Thr91=) c.287C= (p.Thr96=) n.2721C= n.688C= c.*154C= (n.*154C=) c.248C= (p.Thr83=) | |
| 11 | g.1759575G>T | CA379098346 | CTSD | c.293C>A (p.Thr98Lys) c.188C>A (p.Thr63Lys) c.272C>A (p.Thr91Lys) c.287C>A (p.Thr96Lys) n.2721C>A n.688C>A c.*154C>A (n.*154C>A) c.248C>A (p.Thr83Lys) | |
| 11 | g.1759576T>A | CA216175611 | CTSD | c.292A>T (p.Thr98Ser) c.187A>T (p.Thr63Ser) c.271A>T (p.Thr91Ser) c.286A>T (p.Thr96Ser) n.2720A>T n.687A>T c.*153A>T (n.*153A>T) c.247A>T (p.Thr83Ser) | dbSNP |
| 11 | g.1759576T>C | CA379098350 | CTSD | c.292A>G (p.Thr98Ala) c.187A>G (p.Thr63Ala) c.271A>G (p.Thr91Ala) c.286A>G (p.Thr96Ala) n.2720A>G n.687A>G c.*153A>G (n.*153A>G) c.247A>G (p.Thr83Ala) | |
| 11 | g.1759576T>G | CA379098353 | CTSD | c.292A>C (p.Thr98Pro) c.187A>C (p.Thr63Pro) c.271A>C (p.Thr91Pro) c.286A>C (p.Thr96Pro) n.2720A>C n.687A>C c.*153A>C (n.*153A>C) c.247A>C (p.Thr83Pro) | dbSNP |
| 11 | g.1759576T= | CA1947834738 | CTSD | c.292A= (p.Thr98=) c.187A= (p.Thr63=) c.271A= (p.Thr91=) c.286A= (p.Thr96=) n.2720A= n.687A= c.*153A= (n.*153A=) c.247A= (p.Thr83=) | |
| 11 | g.1759577G>A | CA471988462 | CTSD | c.291C>T (p.Asp97=) c.186C>T (p.Asp62=) c.270C>T (p.Asp90=) c.285C>T (p.Asp95=) n.2719C>T n.686C>T c.*152C>T (n.*152C>T) c.246C>T (p.Asp82=) | dbSNP |
| 11 | g.1759577G>C | CA379098356 | CTSD | c.291C>G (p.Asp97Glu) c.186C>G (p.Asp62Glu) c.270C>G (p.Asp90Glu) c.285C>G (p.Asp95Glu) n.2719C>G n.686C>G c.*152C>G (n.*152C>G) c.246C>G (p.Asp82Glu) | |
| 11 | g.1759577G= | CA1947834743 | CTSD | c.291C= (p.Asp97=) c.186C= (p.Asp62=) c.270C= (p.Asp90=) c.285C= (p.Asp95=) n.2719C= n.686C= c.*152C= (n.*152C=) c.246C= (p.Asp82=) | |
| 11 | g.1759577G>T | CA379098355 | CTSD | c.291C>A (p.Asp97Glu) c.186C>A (p.Asp62Glu) c.270C>A (p.Asp90Glu) c.285C>A (p.Asp95Glu) n.2719C>A n.686C>A c.*152C>A (n.*152C>A) c.246C>A (p.Asp82Glu) | |
| 11 | g.1759578T>A | CA379098359 | CTSD | c.290A>T (p.Asp97Val) c.185A>T (p.Asp62Val) c.269A>T (p.Asp90Val) c.284A>T (p.Asp95Val) n.2718A>T n.685A>T c.*151A>T (n.*151A>T) c.245A>T (p.Asp82Val) | |
| 11 | g.1759578T>C | CA379098362 | CTSD | c.290A>G (p.Asp97Gly) c.185A>G (p.Asp62Gly) c.269A>G (p.Asp90Gly) c.284A>G (p.Asp95Gly) n.2718A>G n.685A>G c.*151A>G (n.*151A>G) c.245A>G (p.Asp82Gly) | |
| 11 | g.1759578T>G | CA379098361 | CTSD | c.290A>C (p.Asp97Ala) c.185A>C (p.Asp62Ala) c.269A>C (p.Asp90Ala) c.284A>C (p.Asp95Ala) n.2718A>C n.685A>C c.*151A>C (n.*151A>C) c.245A>C (p.Asp82Ala) | |
| 11 | g.1759579C>A | CA379098363 | CTSD | c.289G>T (p.Asp97Tyr) c.184G>T (p.Asp62Tyr) c.268G>T (p.Asp90Tyr) c.283G>T (p.Asp95Tyr) n.2717G>T n.684G>T c.*150G>T (n.*150G>T) c.244G>T (p.Asp82Tyr) | |
| 11 | g.1759579C= | CA1947834748 | CTSD | c.289G= (p.Asp97=) c.184G= (p.Asp62=) c.268G= (p.Asp90=) c.283G= (p.Asp95=) n.2717G= n.684G= c.*150G= (n.*150G=) c.244G= (p.Asp82=) | |
| 11 | g.1759579C>G | CA379098370 | CTSD | c.289G>C (p.Asp97His) c.184G>C (p.Asp62His) c.268G>C (p.Asp90His) c.283G>C (p.Asp95His) n.2717G>C n.684G>C c.*150G>C (n.*150G>C) c.244G>C (p.Asp82His) | |
| 11 | g.1759579C>T | CA5814239 | CTSD | c.289G>A (p.Asp97Asn) c.184G>A (p.Asp62Asn) c.268G>A (p.Asp90Asn) c.283G>A (p.Asp95Asn) n.2717G>A n.684G>A c.*150G>A (n.*150G>A) c.244G>A (p.Asp82Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1759580G>A | CA5814240 | CTSD | c.288C>T (p.Phe96=) c.183C>T (p.Phe61=) c.267C>T (p.Phe89=) c.282C>T (p.Phe94=) n.2716C>T n.683C>T c.*149C>T (n.*149C>T) c.243C>T (p.Phe81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759580G>C | CA379098372 | CTSD | c.288C>G (p.Phe96Leu) c.183C>G (p.Phe61Leu) c.267C>G (p.Phe89Leu) c.282C>G (p.Phe94Leu) n.2716C>G n.683C>G c.*149C>G (n.*149C>G) c.243C>G (p.Phe81Leu) | |
| 11 | g.1759580G= | CA1947834754 | CTSD | c.288C= (p.Phe96=) c.183C= (p.Phe61=) c.267C= (p.Phe89=) c.282C= (p.Phe94=) n.2716C= n.683C= c.*149C= (n.*149C=) c.243C= (p.Phe81=) | |
| 11 | g.1759580G>T | CA379098374 | CTSD | c.288C>A (p.Phe96Leu) c.183C>A (p.Phe61Leu) c.267C>A (p.Phe89Leu) c.282C>A (p.Phe94Leu) n.2716C>A n.683C>A c.*149C>A (n.*149C>A) c.243C>A (p.Phe81Leu) | |
| 11 | g.1759581A>C | CA379098376 | CTSD | c.287T>G (p.Phe96Cys) c.182T>G (p.Phe61Cys) c.266T>G (p.Phe89Cys) c.281T>G (p.Phe94Cys) n.2715T>G n.682T>G c.*148T>G (n.*148T>G) c.242T>G (p.Phe81Cys) | |
| 11 | g.1759581A>G | CA379098378 | CTSD | c.287T>C (p.Phe96Ser) c.182T>C (p.Phe61Ser) c.266T>C (p.Phe89Ser) c.281T>C (p.Phe94Ser) n.2715T>C n.682T>C c.*148T>C (n.*148T>C) c.242T>C (p.Phe81Ser) | gnomAD v4 |
| 11 | g.1759581A>T | CA379098380 | CTSD | c.287T>A (p.Phe96Tyr) c.182T>A (p.Phe61Tyr) c.266T>A (p.Phe89Tyr) c.281T>A (p.Phe94Tyr) n.2715T>A n.682T>A c.*148T>A (n.*148T>A) c.242T>A (p.Phe81Tyr) | |
| 11 | g.1759582A= | CA1947834760 | CTSD | c.286T= (p.Phe96=) c.181T= (p.Phe61=) c.265T= (p.Phe89=) c.280T= (p.Phe94=) n.2714T= n.681T= c.*147T= (n.*147T=) c.241T= (p.Phe81=) | |
| 11 | g.1759582A>C | CA379098383 | CTSD | c.286T>G (p.Phe96Val) c.181T>G (p.Phe61Val) c.265T>G (p.Phe89Val) c.280T>G (p.Phe94Val) n.2714T>G n.681T>G c.*147T>G (n.*147T>G) c.241T>G (p.Phe81Val) |