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 |
|---|---|---|---|---|---|
| X | g.20186338A= | CA2418512792 | RPS6KA3 | c.803T= (p.Phe268=) c.716T= (p.Phe239=) c.719T= (p.Phe240=) c.421T= (n.421T=) c.*24T= (n.*24T=) | |
| X | g.20186338A>C | CA412518824 | RPS6KA3 | c.803T>G (p.Phe268Cys) c.716T>G (p.Phe239Cys) c.719T>G (p.Phe240Cys) c.421T>G (n.421T>G) c.*24T>G (n.*24T>G) | |
| X | g.20186338A>G | CA255964 | RPS6KA3 | c.803T>C (p.Phe268Ser) c.716T>C (p.Phe239Ser) c.719T>C (p.Phe240Ser) c.421T>C (n.421T>C) c.*24T>C (n.*24T>C) | ClinVar dbSNP gnomAD v4 |
| X | g.20186338A>T | CA412518825 | RPS6KA3 | c.803T>A (p.Phe268Tyr) c.716T>A (p.Phe239Tyr) c.719T>A (p.Phe240Tyr) c.421T>A (n.421T>A) c.*24T>A (n.*24T>A) | gnomAD v4 |
| X | g.20186340del | CA2693278038 | RPS6KA3 | c.803del (p.Phe268SerfsTer10) c.716del (p.Phe239SerfsTer10) c.719del (p.Phe240SerfsTer10) c.421del (n.421del) c.*24del (n.*24del) | gnomAD v4 |
| X | g.20186339A>C | CA412518826 | RPS6KA3 | c.802T>G (p.Phe268Val) c.715T>G (p.Phe239Val) c.718T>G (p.Phe240Val) c.420T>G (n.420T>G) c.*23T>G (n.*23T>G) | |
| X | g.20186339A>G | CA412518827 | RPS6KA3 | c.802T>C (p.Phe268Leu) c.715T>C (p.Phe239Leu) c.718T>C (p.Phe240Leu) c.420T>C (n.420T>C) c.*23T>C (n.*23T>C) | gnomAD v4 |
| X | g.20186339A>T | CA412518828 | RPS6KA3 | c.802T>A (p.Phe268Ile) c.715T>A (p.Phe239Ile) c.718T>A (p.Phe240Ile) c.420T>A (n.420T>A) c.*23T>A (n.*23T>A) | |
| X | g.20186340A= | CA2418512793 | RPS6KA3 | c.801T= (p.Pro267=) c.714T= (p.Pro238=) c.717T= (p.Pro239=) c.419T= (n.419T=) c.*22T= (n.*22T=) | |
| X | g.20186340A>C | CA515614411 | RPS6KA3 | c.801T>G (p.Pro267=) c.714T>G (p.Pro238=) c.717T>G (p.Pro239=) c.419T>G (n.419T>G) c.*22T>G (n.*22T>G) | dbSNP |
| X | g.20186340A>G | CA515614412 | RPS6KA3 | c.801T>C (p.Pro267=) c.714T>C (p.Pro238=) c.717T>C (p.Pro239=) c.419T>C (n.419T>C) c.*22T>C (n.*22T>C) | gnomAD v4 |
| X | g.20186340A>T | CA515614413 | RPS6KA3 | c.801T>A (p.Pro267=) c.714T>A (p.Pro238=) c.717T>A (p.Pro239=) c.419T>A (n.419T>A) c.*22T>A (n.*22T>A) | |
| X | g.20186341G>A | CA412518831 | RPS6KA3 | c.800C>T (p.Pro267Leu) c.713C>T (p.Pro238Leu) c.716C>T (p.Pro239Leu) c.418C>T (n.418C>T) c.*21C>T (n.*21C>T) | |
| X | g.20186341G>C | CA412518830 | RPS6KA3 | c.800C>G (p.Pro267Arg) c.713C>G (p.Pro238Arg) c.716C>G (p.Pro239Arg) c.418C>G (n.418C>G) c.*21C>G (n.*21C>G) | |
| X | g.20186341G>T | CA412518829 | RPS6KA3 | c.800C>A (p.Pro267His) c.713C>A (p.Pro238His) c.716C>A (p.Pro239His) c.418C>A (n.418C>A) c.*21C>A (n.*21C>A) | gnomAD v4 |
| X | g.20186342G>A | CA412518832 | RPS6KA3 | c.799C>T (p.Pro267Ser) c.712C>T (p.Pro238Ser) c.715C>T (p.Pro239Ser) c.417C>T (n.417C>T) c.*20C>T (n.*20C>T) | gnomAD v4 COSMIC |
| X | g.20186342G>C | CA412518833 | RPS6KA3 | c.799C>G (p.Pro267Ala) c.712C>G (p.Pro238Ala) c.715C>G (p.Pro239Ala) c.417C>G (n.417C>G) c.*20C>G (n.*20C>G) | |
| X | g.20186342G>T | CA412518834 | RPS6KA3 | c.799C>A (p.Pro267Thr) c.712C>A (p.Pro238Thr) c.715C>A (p.Pro239Thr) c.417C>A (n.417C>A) c.*20C>A (n.*20C>A) | gnomAD v4 |
| X | g.20186343G>A | CA515614415 | RPS6KA3 | c.798C>T (p.Leu266=) c.711C>T (p.Leu237=) c.714C>T (p.Leu238=) c.416C>T (n.416C>T) c.*19C>T (n.*19C>T) | dbSNP gnomAD v4 |
| X | g.20186343G>C | CA515614416 | RPS6KA3 | c.798C>G (p.Leu266=) c.711C>G (p.Leu237=) c.714C>G (p.Leu238=) c.416C>G (n.416C>G) c.*19C>G (n.*19C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.20186343G= | CA2418512794 | RPS6KA3 | c.798C= (p.Leu266=) c.711C= (p.Leu237=) c.714C= (p.Leu238=) c.416C= (n.416C=) c.*19C= (n.*19C=) | |
| X | g.20186343G>T | CA148275 | RPS6KA3 | c.798C>A (p.Leu266=) c.711C>A (p.Leu237=) c.714C>A (p.Leu238=) c.416C>A (n.416C>A) c.*19C>A (n.*19C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.20186344A>C | CA412518835 | RPS6KA3 | c.797T>G (p.Leu266Arg) c.710T>G (p.Leu237Arg) c.713T>G (p.Leu238Arg) c.415T>G (n.415T>G) c.*18T>G (n.*18T>G) | |
| X | g.20186344A>G | CA412518836 | RPS6KA3 | c.797T>C (p.Leu266Pro) c.710T>C (p.Leu237Pro) c.713T>C (p.Leu238Pro) c.415T>C (n.415T>C) c.*18T>C (n.*18T>C) | gnomAD v4 |
| X | g.20186344A>T | CA412518837 | RPS6KA3 | c.797T>A (p.Leu266His) c.710T>A (p.Leu237His) c.713T>A (p.Leu238His) c.415T>A (n.415T>A) c.*18T>A (n.*18T>A) | gnomAD v4 |
| X | g.20186345G>A | CA412518838 | RPS6KA3 | c.796C>T (p.Leu266Phe) c.709C>T (p.Leu237Phe) c.712C>T (p.Leu238Phe) c.414C>T (n.414C>T) c.*17C>T (n.*17C>T) | |
| X | g.20186345G>C | CA412518840 | RPS6KA3 | c.796C>G (p.Leu266Val) c.709C>G (p.Leu237Val) c.712C>G (p.Leu238Val) c.414C>G (n.414C>G) c.*17C>G (n.*17C>G) | |
| X | g.20186345G>T | CA412518839 | RPS6KA3 | c.796C>A (p.Leu266Ile) c.709C>A (p.Leu237Ile) c.712C>A (p.Leu238Ile) c.414C>A (n.414C>A) c.*17C>A (n.*17C>A) | gnomAD v4 |
| X | g.20186346T>A | CA515614419 | RPS6KA3 | c.795A>T (p.Thr265=) c.708A>T (p.Thr236=) c.711A>T (p.Thr237=) c.413A>T (n.413A>T) c.*16A>T (n.*16A>T) | gnomAD v4 |
| X | g.20186346T>C | CA515614420 | RPS6KA3 | c.795A>G (p.Thr265=) c.708A>G (p.Thr236=) c.711A>G (p.Thr237=) c.413A>G (n.413A>G) c.*16A>G (n.*16A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.20186346T>G | CA515614421 | RPS6KA3 | c.795A>C (p.Thr265=) c.708A>C (p.Thr236=) c.711A>C (p.Thr237=) c.413A>C (n.413A>C) c.*16A>C (n.*16A>C) | |
| X | g.20186346T= | CA2418512795 | RPS6KA3 | c.795A= (p.Thr265=) c.708A= (p.Thr236=) c.711A= (p.Thr237=) c.413A= (n.413A=) c.*16A= (n.*16A=) | |
| X | g.20186347G>A | CA412518841 | RPS6KA3 | c.794C>T (p.Thr265Ile) c.707C>T (p.Thr236Ile) c.710C>T (p.Thr237Ile) c.412C>T (n.412C>T) c.*15C>T (n.*15C>T) | gnomAD v4 |
| X | g.20186347G>C | CA412518842 | RPS6KA3 | c.794C>G (p.Thr265Arg) c.707C>G (p.Thr236Arg) c.710C>G (p.Thr237Arg) c.412C>G (n.412C>G) c.*15C>G (n.*15C>G) | |
| X | g.20186347G>T | CA412518843 | RPS6KA3 | c.794C>A (p.Thr265Lys) c.707C>A (p.Thr236Lys) c.710C>A (p.Thr237Lys) c.412C>A (n.412C>A) c.*15C>A (n.*15C>A) | gnomAD v4 |
| X | g.20186348T>A | CA412518844 | RPS6KA3 | c.793A>T (p.Thr265Ser) c.706A>T (p.Thr236Ser) c.709A>T (p.Thr237Ser) c.411A>T (n.411A>T) c.*14A>T (n.*14A>T) | |
| X | g.20186348T>C | CA412518845 | RPS6KA3 | c.793A>G (p.Thr265Ala) c.706A>G (p.Thr236Ala) c.709A>G (p.Thr237Ala) c.411A>G (n.411A>G) c.*14A>G (n.*14A>G) | gnomAD v4 |
| X | g.20186348T>G | CA412518846 | RPS6KA3 | c.793A>C (p.Thr265Pro) c.706A>C (p.Thr236Pro) c.709A>C (p.Thr237Pro) c.411A>C (n.411A>C) c.*14A>C (n.*14A>C) | |
| X | g.20186349A>C | CA515614425 | RPS6KA3 | c.792T>G (p.Gly264=) c.705T>G (p.Gly235=) c.708T>G (p.Gly236=) c.410T>G (n.410T>G) c.*13T>G (n.*13T>G) | |
| X | g.20186349A>G | CA515614426 | RPS6KA3 | c.792T>C (p.Gly264=) c.705T>C (p.Gly235=) c.708T>C (p.Gly236=) c.410T>C (n.410T>C) c.*13T>C (n.*13T>C) | gnomAD v4 |
| X | g.20186349A>T | CA515614427 | RPS6KA3 | c.792T>A (p.Gly264=) c.705T>A (p.Gly235=) c.708T>A (p.Gly236=) c.410T>A (n.410T>A) c.*13T>A (n.*13T>A) | |
| X | g.20186350C>A | CA412518847 | RPS6KA3 | c.791G>T (p.Gly264Val) c.704G>T (p.Gly235Val) c.707G>T (p.Gly236Val) c.409G>T (n.409G>T) c.*12G>T (n.*12G>T) | |
| X | g.20186350C>G | CA412518848 | RPS6KA3 | c.791G>C (p.Gly264Ala) c.704G>C (p.Gly235Ala) c.707G>C (p.Gly236Ala) c.409G>C (n.409G>C) c.*12G>C (n.*12G>C) | |
| X | g.20186350C>T | CA412518849 | RPS6KA3 | c.791G>A (p.Gly264Asp) c.704G>A (p.Gly235Asp) c.707G>A (p.Gly236Asp) c.409G>A (n.409G>A) c.*12G>A (n.*12G>A) | |
| X | g.20186351del | CA2693278039 | RPS6KA3 | c.791del (p.Gly264ValfsTer14) c.704del (p.Gly235ValfsTer14) c.707del (p.Gly236ValfsTer14) c.409del (n.409del) c.*12del (n.*12del) | gnomAD v4 |
| X | g.20186351C>A | CA412518850 | RPS6KA3 | c.790G>T (p.Gly264Cys) c.703G>T (p.Gly235Cys) c.706G>T (p.Gly236Cys) c.408G>T (n.408G>T) c.*11G>T (n.*11G>T) | gnomAD v4 |
| X | g.20186351C>G | CA412518851 | RPS6KA3 | c.790G>C (p.Gly264Arg) c.703G>C (p.Gly235Arg) c.706G>C (p.Gly236Arg) c.408G>C (n.408G>C) c.*11G>C (n.*11G>C) | |
| X | g.20186351C>T | CA412518852 | RPS6KA3 | c.790G>A (p.Gly264Ser) c.703G>A (p.Gly235Ser) c.706G>A (p.Gly236Ser) c.408G>A (n.408G>A) c.*11G>A (n.*11G>A) | gnomAD v4 |
| X | g.20186352A>C | CA515614428 | RPS6KA3 | c.789T>G (p.Thr263=) c.702T>G (p.Thr234=) c.705T>G (p.Thr235=) c.407T>G (n.407T>G) c.*10T>G (n.*10T>G) | |
| X | g.20186352A>G | CA515614429 | RPS6KA3 | c.789T>C (p.Thr263=) c.702T>C (p.Thr234=) c.705T>C (p.Thr235=) c.407T>C (n.407T>C) c.*10T>C (n.*10T>C) | gnomAD v4 |