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 |
|---|---|---|---|---|---|
| 3 | g.93876969del | CA2666654363 | PROS1 | c.1868del (p.Pro623GlnfsTer10) c.1823del (p.Pro608GlnfsTer10) c.1644+2195del (n.1644+2195del) n.2036del c.1826del (p.Pro609GlnfsTer10) c.1964del (p.Pro655GlnfsTer10) c.1475del (p.Pro492GlnfsTer10) | gnomAD v4 |
| 3 | g.93876969G>A | CA353670822 | PROS1 | c.1867C>T (p.Pro623Ser) c.1822C>T (p.Pro608Ser) c.1644+2194C>T (n.1644+2194C>T) n.2035C>T c.1825C>T (p.Pro609Ser) c.1963C>T (p.Pro655Ser) c.1474C>T (p.Pro492Ser) | |
| 3 | g.93876969G>C | CA353670821 | PROS1 | c.1867C>G (p.Pro623Ala) c.1822C>G (p.Pro608Ala) c.1644+2194C>G (n.1644+2194C>G) n.2035C>G c.1825C>G (p.Pro609Ala) c.1963C>G (p.Pro655Ala) c.1474C>G (p.Pro492Ala) | |
| 3 | g.93876969G>T | CA353670819 | PROS1 | c.1867C>A (p.Pro623Thr) c.1822C>A (p.Pro608Thr) c.1644+2194C>A (n.1644+2194C>A) n.2035C>A c.1825C>A (p.Pro609Thr) c.1963C>A (p.Pro655Thr) c.1474C>A (p.Pro492Thr) | |
| 3 | g.93876970A= | CA1385028846 | PROS1 | c.1866T= (p.Leu622=) c.1821T= (p.Leu607=) c.1644+2193T= (n.1644+2193T=) n.2034T= c.1824T= (p.Leu608=) c.1962T= (p.Leu654=) c.1473T= (p.Leu491=) | |
| 3 | g.93876970A>C | CA434463020 | PROS1 | c.1866T>G (p.Leu622=) c.1821T>G (p.Leu607=) c.1644+2193T>G (n.1644+2193T>G) n.2034T>G c.1824T>G (p.Leu608=) c.1962T>G (p.Leu654=) c.1473T>G (p.Leu491=) | |
| 3 | g.93876970A>G | CA2503083 | PROS1 | c.1866T>C (p.Leu622=) c.1821T>C (p.Leu607=) c.1644+2193T>C (n.1644+2193T>C) n.2034T>C c.1824T>C (p.Leu608=) c.1962T>C (p.Leu654=) c.1473T>C (p.Leu491=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.93876970A>T | CA434463021 | PROS1 | c.1866T>A (p.Leu622=) c.1821T>A (p.Leu607=) c.1644+2193T>A (n.1644+2193T>A) n.2034T>A c.1824T>A (p.Leu608=) c.1962T>A (p.Leu654=) c.1473T>A (p.Leu491=) | |
| 3 | g.93876971A>C | CA353670823 | PROS1 | c.1865T>G (p.Leu622Arg) c.1820T>G (p.Leu607Arg) c.1644+2192T>G (n.1644+2192T>G) n.2033T>G c.1823T>G (p.Leu608Arg) c.1961T>G (p.Leu654Arg) c.1472T>G (p.Leu491Arg) | |
| 3 | g.93876971A>G | CA353670824 | PROS1 | c.1865T>C (p.Leu622Pro) c.1820T>C (p.Leu607Pro) c.1644+2192T>C (n.1644+2192T>C) n.2033T>C c.1823T>C (p.Leu608Pro) c.1961T>C (p.Leu654Pro) c.1472T>C (p.Leu491Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.93876971A>T | CA353670825 | PROS1 | c.1865T>A (p.Leu622His) c.1820T>A (p.Leu607His) c.1644+2192T>A (n.1644+2192T>A) n.2033T>A c.1823T>A (p.Leu608His) c.1961T>A (p.Leu654His) c.1472T>A (p.Leu491His) | gnomAD v4 |
| 3 | g.93876972G>A | CA353670826 | PROS1 | c.1864C>T (p.Leu622Phe) c.1819C>T (p.Leu607Phe) c.1644+2191C>T (n.1644+2191C>T) n.2032C>T c.1822C>T (p.Leu608Phe) c.1960C>T (p.Leu654Phe) c.1471C>T (p.Leu491Phe) | dbSNP gnomAD v4 |
| 3 | g.93876972G>C | CA353670827 | PROS1 | c.1864C>G (p.Leu622Val) c.1819C>G (p.Leu607Val) c.1644+2191C>G (n.1644+2191C>G) n.2032C>G c.1822C>G (p.Leu608Val) c.1960C>G (p.Leu654Val) c.1471C>G (p.Leu491Val) | |
| 3 | g.93876972G= | CA1385028849 | PROS1 | c.1864C= (p.Leu622=) c.1819C= (p.Leu607=) c.1644+2191C= (n.1644+2191C=) n.2032C= c.1822C= (p.Leu608=) c.1960C= (p.Leu654=) c.1471C= (p.Leu491=) | |
| 3 | g.93876972G>T | CA2503084 | PROS1 | c.1864C>A (p.Leu622Ile) c.1819C>A (p.Leu607Ile) c.1644+2191C>A (n.1644+2191C>A) n.2032C>A c.1822C>A (p.Leu608Ile) c.1960C>A (p.Leu654Ile) c.1471C>A (p.Leu491Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.93876973G>A | CA434463022 | PROS1 | c.1863C>T (p.Gly621=) c.1818C>T (p.Gly606=) c.1644+2190C>T (n.1644+2190C>T) n.2031C>T c.1821C>T (p.Gly607=) c.1959C>T (p.Gly653=) c.1470C>T (p.Gly490=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.93876973G>C | CA434463023 | PROS1 | c.1863C>G (p.Gly621=) c.1818C>G (p.Gly606=) c.1644+2190C>G (n.1644+2190C>G) n.2031C>G c.1821C>G (p.Gly607=) c.1959C>G (p.Gly653=) c.1470C>G (p.Gly490=) | |
| 3 | g.93876973G>T | CA434463024 | PROS1 | c.1863C>A (p.Gly621=) c.1818C>A (p.Gly606=) c.1644+2190C>A (n.1644+2190C>A) n.2031C>A c.1821C>A (p.Gly607=) c.1959C>A (p.Gly653=) c.1470C>A (p.Gly490=) | gnomAD v4 |
| 3 | g.93876974C>A | CA353670828 | PROS1 | c.1862G>T (p.Gly621Val) c.1817G>T (p.Gly606Val) c.1644+2189G>T (n.1644+2189G>T) n.2030G>T c.1820G>T (p.Gly607Val) c.1958G>T (p.Gly653Val) c.1469G>T (p.Gly490Val) | ClinVar dbSNP |
| 3 | g.93876974C>G | CA353670829 | PROS1 | c.1862G>C (p.Gly621Ala) c.1817G>C (p.Gly606Ala) c.1644+2189G>C (n.1644+2189G>C) n.2030G>C c.1820G>C (p.Gly607Ala) c.1958G>C (p.Gly653Ala) c.1469G>C (p.Gly490Ala) | |
| 3 | g.93876974C>T | CA353670830 | PROS1 | c.1862G>A (p.Gly621Asp) c.1817G>A (p.Gly606Asp) c.1644+2189G>A (n.1644+2189G>A) n.2030G>A c.1820G>A (p.Gly607Asp) c.1958G>A (p.Gly653Asp) c.1469G>A (p.Gly490Asp) | gnomAD v4 |
| 3 | g.93876975C>A | CA353670831 | PROS1 | c.1861G>T (p.Gly621Cys) c.1816G>T (p.Gly606Cys) c.1644+2188G>T (n.1644+2188G>T) n.2029G>T c.1819G>T (p.Gly607Cys) c.1957G>T (p.Gly653Cys) c.1468G>T (p.Gly490Cys) | |
| 3 | g.93876975C>G | CA353670832 | PROS1 | c.1861G>C (p.Gly621Arg) c.1816G>C (p.Gly606Arg) c.1644+2188G>C (n.1644+2188G>C) n.2029G>C c.1819G>C (p.Gly607Arg) c.1957G>C (p.Gly653Arg) c.1468G>C (p.Gly490Arg) | |
| 3 | g.93876975C>T | CA353670833 | PROS1 | c.1861G>A (p.Gly621Ser) c.1816G>A (p.Gly606Ser) c.1644+2188G>A (n.1644+2188G>A) n.2029G>A c.1819G>A (p.Gly607Ser) c.1957G>A (p.Gly653Ser) c.1468G>A (p.Gly490Ser) | ClinVar dbSNP |
| 3 | g.93876976A>C | CA434463025 | PROS1 | c.1860T>G (p.Gly620=) c.1815T>G (p.Gly605=) c.1644+2187T>G (n.1644+2187T>G) n.2028T>G c.1818T>G (p.Gly606=) c.1956T>G (p.Gly652=) c.1467T>G (p.Gly489=) | |
| 3 | g.93876976A>G | CA434463026 | PROS1 | c.1860T>C (p.Gly620=) c.1815T>C (p.Gly605=) c.1644+2187T>C (n.1644+2187T>C) n.2028T>C c.1818T>C (p.Gly606=) c.1956T>C (p.Gly652=) c.1467T>C (p.Gly489=) | |
| 3 | g.93876976A>T | CA434463027 | PROS1 | c.1860T>A (p.Gly620=) c.1815T>A (p.Gly605=) c.1644+2187T>A (n.1644+2187T>A) n.2028T>A c.1818T>A (p.Gly606=) c.1956T>A (p.Gly652=) c.1467T>A (p.Gly489=) | |
| 3 | g.93876977C>A | CA353670836 | PROS1 | c.1859G>T (p.Gly620Val) c.1814G>T (p.Gly605Val) c.1644+2186G>T (n.1644+2186G>T) n.2027G>T c.1817G>T (p.Gly606Val) c.1955G>T (p.Gly652Val) c.1466G>T (p.Gly489Val) | |
| 3 | g.93876977C>G | CA353670835 | PROS1 | c.1859G>C (p.Gly620Ala) c.1814G>C (p.Gly605Ala) c.1644+2186G>C (n.1644+2186G>C) n.2027G>C c.1817G>C (p.Gly606Ala) c.1955G>C (p.Gly652Ala) c.1466G>C (p.Gly489Ala) | |
| 3 | g.93876977C>T | CA353670834 | PROS1 | c.1859G>A (p.Gly620Asp) c.1814G>A (p.Gly605Asp) c.1644+2186G>A (n.1644+2186G>A) n.2027G>A c.1817G>A (p.Gly606Asp) c.1955G>A (p.Gly652Asp) c.1466G>A (p.Gly489Asp) | |
| 3 | g.93876979del | CA2666654364 | PROS1 | c.1859del (p.Gly620ValfsTer13) c.1814del (p.Gly605ValfsTer13) c.1644+2186del (n.1644+2186del) n.2027del c.1817del (p.Gly606ValfsTer13) c.1955del (p.Gly652ValfsTer13) c.1466del (p.Gly489ValfsTer13) | gnomAD v4 |
| 3 | g.93876978C>A | CA353670837 | PROS1 | c.1858G>T (p.Gly620Cys) c.1813G>T (p.Gly605Cys) c.1644+2185G>T (n.1644+2185G>T) n.2026G>T c.1816G>T (p.Gly606Cys) c.1954G>T (p.Gly652Cys) c.1465G>T (p.Gly489Cys) | |
| 3 | g.93876978C>G | CA353670838 | PROS1 | c.1858G>C (p.Gly620Arg) c.1813G>C (p.Gly605Arg) c.1644+2185G>C (n.1644+2185G>C) n.2026G>C c.1816G>C (p.Gly606Arg) c.1954G>C (p.Gly652Arg) c.1465G>C (p.Gly489Arg) | |
| 3 | g.93876978C>T | CA353670839 | PROS1 | c.1858G>A (p.Gly620Ser) c.1813G>A (p.Gly605Ser) c.1644+2185G>A (n.1644+2185G>A) n.2026G>A c.1816G>A (p.Gly606Ser) c.1954G>A (p.Gly652Ser) c.1465G>A (p.Gly489Ser) | |
| 3 | g.93876979C>A | CA434463028 | PROS1 | c.1857G>T (p.Leu619=) c.1812G>T (p.Leu604=) c.1644+2184G>T (n.1644+2184G>T) n.2025G>T c.1815G>T (p.Leu605=) c.1953G>T (p.Leu651=) c.1464G>T (p.Leu488=) | |
| 3 | g.93876979C= | CA1385028853 | PROS1 | c.1857G= (p.Leu619=) c.1812G= (p.Leu604=) c.1644+2184G= (n.1644+2184G=) n.2025G= c.1815G= (p.Leu605=) c.1953G= (p.Leu651=) c.1464G= (p.Leu488=) | |
| 3 | g.93876979C>G | CA434463029 | PROS1 | c.1857G>C (p.Leu619=) c.1812G>C (p.Leu604=) c.1644+2184G>C (n.1644+2184G>C) n.2025G>C c.1815G>C (p.Leu605=) c.1953G>C (p.Leu651=) c.1464G>C (p.Leu488=) | dbSNP |
| 3 | g.93876979C>T | CA434463030 | PROS1 | c.1857G>A (p.Leu619=) c.1812G>A (p.Leu604=) c.1644+2184G>A (n.1644+2184G>A) n.2025G>A c.1815G>A (p.Leu605=) c.1953G>A (p.Leu651=) c.1464G>A (p.Leu488=) | ClinVar gnomAD v4 |
| 3 | g.93876980A>C | CA353670840 | PROS1 | c.1856T>G (p.Leu619Arg) c.1811T>G (p.Leu604Arg) c.1644+2183T>G (n.1644+2183T>G) n.2024T>G c.1814T>G (p.Leu605Arg) c.1952T>G (p.Leu651Arg) c.1463T>G (p.Leu488Arg) | |
| 3 | g.93876980A>G | CA353670841 | PROS1 | c.1856T>C (p.Leu619Pro) c.1811T>C (p.Leu604Pro) c.1644+2183T>C (n.1644+2183T>C) n.2024T>C c.1814T>C (p.Leu605Pro) c.1952T>C (p.Leu651Pro) c.1463T>C (p.Leu488Pro) | ClinVar |
| 3 | g.93876980A>T | CA353670842 | PROS1 | c.1856T>A (p.Leu619Gln) c.1811T>A (p.Leu604Gln) c.1644+2183T>A (n.1644+2183T>A) n.2024T>A c.1814T>A (p.Leu605Gln) c.1952T>A (p.Leu651Gln) c.1463T>A (p.Leu488Gln) | |
| 3 | g.93876981G>A | CA434463031 | PROS1 | c.1855C>T (p.Leu619=) c.1810C>T (p.Leu604=) c.1644+2182C>T (n.1644+2182C>T) n.2023C>T c.1813C>T (p.Leu605=) c.1951C>T (p.Leu651=) c.1462C>T (p.Leu488=) | |
| 3 | g.93876981G>C | CA353670843 | PROS1 | c.1855C>G (p.Leu619Val) c.1810C>G (p.Leu604Val) c.1644+2182C>G (n.1644+2182C>G) n.2023C>G c.1813C>G (p.Leu605Val) c.1951C>G (p.Leu651Val) c.1462C>G (p.Leu488Val) | gnomAD v4 |
| 3 | g.93876981G>T | CA353670844 | PROS1 | c.1855C>A (p.Leu619Met) c.1810C>A (p.Leu604Met) c.1644+2182C>A (n.1644+2182C>A) n.2023C>A c.1813C>A (p.Leu605Met) c.1951C>A (p.Leu651Met) c.1462C>A (p.Leu488Met) | |
| 3 | g.93876982dup | CA2586972678 | PROS1 | c.1855dup (p.Leu619ProfsTer19) c.1810dup (p.Leu604ProfsTer19) c.1644+2182dup (n.1644+2182dup) n.2023dup c.1813dup (p.Leu605ProfsTer19) c.1951dup (p.Leu651ProfsTer19) c.1462dup (p.Leu488ProfsTer19) | |
| 3 | g.93876981_93876984delinsAT | CA2586972677 | PROS1 | c.1852_1855delinsAT (p.Tyr618IlefsTer19) c.1807_1810delinsAT (p.Tyr603IlefsTer19) c.1644+2179_1644+2182delinsAT (n.1644+2179_1644+2182delinsAT) n.2020_2023delinsAT c.1810_1813delinsAT (p.Tyr604IlefsTer19) c.1948_1951delinsAT (p.Tyr650IlefsTer19) c.1459_1462delinsAT (p.Tyr487IlefsTer19) | |
| 3 | g.93876982G>A | CA434463032 | PROS1 | c.1854C>T (p.Tyr618=) c.1809C>T (p.Tyr603=) c.1644+2181C>T (n.1644+2181C>T) n.2022C>T c.1812C>T (p.Tyr604=) c.1950C>T (p.Tyr650=) c.1461C>T (p.Tyr487=) | |
| 3 | g.93876982G>C | CA353670845 | PROS1 | c.1854C>G (p.Tyr618Ter) c.1809C>G (p.Tyr603Ter) c.1644+2181C>G (n.1644+2181C>G) n.2022C>G c.1812C>G (p.Tyr604Ter) c.1950C>G (p.Tyr650Ter) c.1461C>G (p.Tyr487Ter) | |
| 3 | g.93876982G>T | CA353670846 | PROS1 | c.1854C>A (p.Tyr618Ter) c.1809C>A (p.Tyr603Ter) c.1644+2181C>A (n.1644+2181C>A) n.2022C>A c.1812C>A (p.Tyr604Ter) c.1950C>A (p.Tyr650Ter) c.1461C>A (p.Tyr487Ter) | |
| 3 | g.93876983T>A | CA353670847 | PROS1 | c.1853A>T (p.Tyr618Phe) c.1808A>T (p.Tyr603Phe) c.1644+2180A>T (n.1644+2180A>T) n.2021A>T c.1811A>T (p.Tyr604Phe) c.1949A>T (p.Tyr650Phe) c.1460A>T (p.Tyr487Phe) |