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 |
|---|---|---|---|---|---|
| 4 | g.6301681G>A | CA261748 | WFS1 | c.1922G>A (p.Arg641Gln) c.1863G>A c.1886G>A (p.Arg629Gln) c.1637G>A (p.Arg546Gln) c.1545G>A (n.1545G>A) n.2071G>A c.1895G>A (p.Arg632Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301681G>C | CA356177035 | WFS1 | c.1922G>C (p.Arg641Pro) c.1863G>C c.1886G>C (p.Arg629Pro) c.1637G>C (p.Arg546Pro) c.1545G>C (n.1545G>C) n.2071G>C c.1895G>C (p.Arg632Pro) | |
| 4 | g.6301681G= | CA1435771649 | WFS1 | c.1922G= (p.Arg641=) c.1863G= c.1886G= (p.Arg629=) c.1637G= (p.Arg546=) c.1545G= (n.1545G=) n.2071G= c.1895G= (p.Arg632=) | |
| 4 | g.6301681G>T | CA356177036 | WFS1 | c.1922G>T (p.Arg641Leu) c.1863G>T c.1886G>T (p.Arg629Leu) c.1637G>T (p.Arg546Leu) c.1545G>T (n.1545G>T) n.2071G>T c.1895G>T (p.Arg632Leu) | |
| 4 | g.6301682G>A | CA438368571 | WFS1 | c.1923G>A (p.Arg641=) c.1864G>A c.1887G>A (p.Arg629=) c.1638G>A (p.Arg546=) c.1546G>A (n.1546G>A) n.2072G>A c.1896G>A (p.Arg632=) | gnomAD v4 |
| 4 | g.6301682G>C | CA438368570 | WFS1 | c.1923G>C (p.Arg641=) c.1864G>C c.1887G>C (p.Arg629=) c.1638G>C (p.Arg546=) c.1546G>C (n.1546G>C) n.2072G>C c.1896G>C (p.Arg632=) | gnomAD v4 |
| 4 | g.6301682G>T | CA438368567 | WFS1 | c.1923G>T (p.Arg641=) c.1864G>T c.1887G>T (p.Arg629=) c.1638G>T (p.Arg546=) c.1546G>T (n.1546G>T) n.2072G>T c.1896G>T (p.Arg632=) | gnomAD v4 |
| 4 | g.6301683A>C | CA356177037 | WFS1 | c.1924A>C (p.Ser642Arg) c.1865A>C c.1888A>C (p.Ser630Arg) c.1639A>C (p.Ser547Arg) c.1547A>C (n.1547A>C) n.2073A>C c.1897A>C (p.Ser633Arg) | |
| 4 | g.6301683A>G | CA356177038 | WFS1 | c.1924A>G (p.Ser642Gly) c.1865A>G c.1888A>G (p.Ser630Gly) c.1639A>G (p.Ser547Gly) c.1547A>G (n.1547A>G) n.2073A>G c.1897A>G (p.Ser633Gly) | |
| 4 | g.6301683A>T | CA356177039 | WFS1 | c.1924A>T (p.Ser642Cys) c.1865A>T c.1888A>T (p.Ser630Cys) c.1639A>T (p.Ser547Cys) c.1547A>T (n.1547A>T) n.2073A>T c.1897A>T (p.Ser633Cys) | gnomAD v4 |
| 4 | g.6301683_6301685del | CA2669843457 | WFS1 | c.1924_1926del (p.Ser642del) c.1865_1867del c.1888_1890del (p.Ser630del) c.1639_1641del (p.Ser547del) c.1547_1549del (n.1547_1549del) n.2073_2075del c.1897_1899del (p.Ser633del) | gnomAD v4 |
| 4 | g.6301684G>A | CA356177040 | WFS1 | c.1925G>A (p.Ser642Asn) c.1866G>A c.1889G>A (p.Ser630Asn) c.1640G>A (p.Ser547Asn) c.1548G>A (n.1548G>A) n.2074G>A c.1898G>A (p.Ser633Asn) | |
| 4 | g.6301684G>C | CA356177041 | WFS1 | c.1925G>C (p.Ser642Thr) c.1866G>C c.1889G>C (p.Ser630Thr) c.1640G>C (p.Ser547Thr) c.1548G>C (n.1548G>C) n.2074G>C c.1898G>C (p.Ser633Thr) | |
| 4 | g.6301684G>T | CA356177042 | WFS1 | c.1925G>T (p.Ser642Ile) c.1866G>T c.1889G>T (p.Ser630Ile) c.1640G>T (p.Ser547Ile) c.1548G>T (n.1548G>T) n.2074G>T c.1898G>T (p.Ser633Ile) | |
| 4 | g.6301685C>A | CA356177043 | WFS1 | c.1926C>A (p.Ser642Arg) c.1867C>A c.1890C>A (p.Ser630Arg) c.1641C>A (p.Ser547Arg) c.1549C>A (n.1549C>A) n.2075C>A c.1899C>A (p.Ser633Arg) | |
| 4 | g.6301685C>G | CA356177044 | WFS1 | c.1926C>G (p.Ser642Arg) c.1867C>G c.1890C>G (p.Ser630Arg) c.1641C>G (p.Ser547Arg) c.1549C>G (n.1549C>G) n.2075C>G c.1899C>G (p.Ser633Arg) | |
| 4 | g.6301685C>T | CA438368579 | WFS1 | c.1926C>T (p.Ser642=) c.1867C>T c.1890C>T (p.Ser630=) c.1641C>T (p.Ser547=) c.1549C>T (n.1549C>T) n.2075C>T c.1899C>T (p.Ser633=) | gnomAD v4 |
| 4 | g.6301686T>A | CA356177047 | WFS1 | c.1927T>A (p.Ser643Thr) c.1868T>A c.1891T>A (p.Ser631Thr) c.1642T>A (p.Ser548Thr) c.1550T>A (n.1550T>A) n.2076T>A c.1900T>A (p.Ser634Thr) | |
| 4 | g.6301686T>C | CA356177045 | WFS1 | c.1927T>C (p.Ser643Pro) c.1868T>C c.1891T>C (p.Ser631Pro) c.1642T>C (p.Ser548Pro) c.1550T>C (n.1550T>C) n.2076T>C c.1900T>C (p.Ser634Pro) | |
| 4 | g.6301686T>G | CA356177046 | WFS1 | c.1927T>G (p.Ser643Ala) c.1868T>G c.1891T>G (p.Ser631Ala) c.1642T>G (p.Ser548Ala) c.1550T>G (n.1550T>G) n.2076T>G c.1900T>G (p.Ser634Ala) | |
| 4 | g.6301687C>A | CA356177048 | WFS1 | c.1928C>A (p.Ser643Tyr) c.1869C>A c.1892C>A (p.Ser631Tyr) c.1643C>A (p.Ser548Tyr) c.1551C>A (n.1551C>A) n.2077C>A c.1901C>A (p.Ser634Tyr) | |
| 4 | g.6301687C>G | CA356177049 | WFS1 | c.1928C>G (p.Ser643Cys) c.1869C>G c.1892C>G (p.Ser631Cys) c.1643C>G (p.Ser548Cys) c.1551C>G (n.1551C>G) n.2077C>G c.1901C>G (p.Ser634Cys) | ClinVar gnomAD v4 |
| 4 | g.6301687C>T | CA356177050 | WFS1 | c.1928C>T (p.Ser643Phe) c.1869C>T c.1892C>T (p.Ser631Phe) c.1643C>T (p.Ser548Phe) c.1551C>T (n.1551C>T) n.2077C>T c.1901C>T (p.Ser634Phe) | |
| 4 | g.6301688C>A | CA438368634 | WFS1 | c.1929C>A (p.Ser643=) c.1870C>A c.1893C>A (p.Ser631=) c.1644C>A (p.Ser548=) c.1552C>A (n.1552C>A) n.2078C>A c.1902C>A (p.Ser634=) | ClinVar dbSNP |
| 4 | g.6301688C= | CA1435771651 | WFS1 | c.1929C= (p.Ser643=) c.1870C= c.1893C= (p.Ser631=) c.1644C= (p.Ser548=) c.1552C= (n.1552C=) n.2078C= c.1902C= (p.Ser634=) | |
| 4 | g.6301688C>G | CA438368635 | WFS1 | c.1929C>G (p.Ser643=) c.1870C>G c.1893C>G (p.Ser631=) c.1644C>G (p.Ser548=) c.1552C>G (n.1552C>G) n.2078C>G c.1902C>G (p.Ser634=) | |
| 4 | g.6301688C>T | CA2839536 | WFS1 | c.1929C>T (p.Ser643=) c.1870C>T c.1893C>T (p.Ser631=) c.1644C>T (p.Ser548=) c.1552C>T (n.1552C>T) n.2078C>T c.1902C>T (p.Ser634=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301689A= | CA1435771656 | WFS1 | c.1930A= (p.Met644=) c.1871A= c.1894A= (p.Met632=) c.1645A= (p.Met549=) c.1553A= (n.1553A=) n.2079A= c.1903A= (p.Met635=) | |
| 4 | g.6301689A>C | CA356177051 | WFS1 | c.1930A>C (p.Met644Leu) c.1871A>C c.1894A>C (p.Met632Leu) c.1645A>C (p.Met549Leu) c.1553A>C (n.1553A>C) n.2079A>C c.1903A>C (p.Met635Leu) | |
| 4 | g.6301689A>G | CA356177052 | WFS1 | c.1930A>G (p.Met644Val) c.1871A>G c.1894A>G (p.Met632Val) c.1645A>G (p.Met549Val) c.1553A>G (n.1553A>G) n.2079A>G c.1903A>G (p.Met635Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301689A>T | CA356177053 | WFS1 | c.1930A>T (p.Met644Leu) c.1871A>T c.1894A>T (p.Met632Leu) c.1645A>T (p.Met549Leu) c.1553A>T (n.1553A>T) n.2079A>T c.1903A>T (p.Met635Leu) | |
| 4 | g.6301690T>A | CA356177054 | WFS1 | c.1931T>A (p.Met644Lys) c.1872T>A c.1895T>A (p.Met632Lys) c.1646T>A (p.Met549Lys) c.1554T>A (n.1554T>A) n.2080T>A c.1904T>A (p.Met635Lys) | |
| 4 | g.6301690T>C | CA356177055 | WFS1 | c.1931T>C (p.Met644Thr) c.1872T>C c.1895T>C (p.Met632Thr) c.1646T>C (p.Met549Thr) c.1554T>C (n.1554T>C) n.2080T>C c.1904T>C (p.Met635Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301690T>G | CA356177056 | WFS1 | c.1931T>G (p.Met644Arg) c.1872T>G c.1895T>G (p.Met632Arg) c.1646T>G (p.Met549Arg) c.1554T>G (n.1554T>G) n.2080T>G c.1904T>G (p.Met635Arg) | |
| 4 | g.6301690T= | CA1435771658 | WFS1 | c.1931T= (p.Met644=) c.1872T= c.1895T= (p.Met632=) c.1646T= (p.Met549=) c.1554T= (n.1554T=) n.2080T= c.1904T= (p.Met635=) | |
| 4 | g.6301691G>A | CA356177057 | WFS1 | c.1932G>A (p.Met644Ile) c.1873G>A c.1896G>A (p.Met632Ile) c.1647G>A (p.Met549Ile) c.1555G>A (n.1555G>A) n.2081G>A c.1905G>A (p.Met635Ile) | ClinVar dbSNP |
| 4 | g.6301691G>C | CA356177058 | WFS1 | c.1932G>C (p.Met644Ile) c.1873G>C c.1896G>C (p.Met632Ile) c.1647G>C (p.Met549Ile) c.1555G>C (n.1555G>C) n.2081G>C c.1905G>C (p.Met635Ile) | dbSNP |
| 4 | g.6301691G= | CA1435771663 | WFS1 | c.1932G= (p.Met644=) c.1873G= c.1896G= (p.Met632=) c.1647G= (p.Met549=) c.1555G= (n.1555G=) n.2081G= c.1905G= (p.Met635=) | |
| 4 | g.6301691G>T | CA16609253 | WFS1 | c.1932G>T (p.Met644Ile) c.1873G>T c.1896G>T (p.Met632Ile) c.1647G>T (p.Met549Ile) c.1555G>T (n.1555G>T) n.2081G>T c.1905G>T (p.Met635Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301692G>A | CA356177061 | WFS1 | c.1933G>A (p.Val645Ile) c.1874G>A c.1897G>A (p.Val633Ile) c.1648G>A (p.Val550Ile) c.1556G>A (n.1556G>A) n.2082G>A c.1906G>A (p.Val636Ile) | |
| 4 | g.6301692G>C | CA356177059 | WFS1 | c.1933G>C (p.Val645Leu) c.1874G>C c.1897G>C (p.Val633Leu) c.1648G>C (p.Val550Leu) c.1556G>C (n.1556G>C) n.2082G>C c.1906G>C (p.Val636Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301692G= | CA1435771668 | WFS1 | c.1933G= (p.Val645=) c.1874G= c.1897G= (p.Val633=) c.1648G= (p.Val550=) c.1556G= (n.1556G=) n.2082G= c.1906G= (p.Val636=) | |
| 4 | g.6301692G>T | CA356177060 | WFS1 | c.1933G>T (p.Val645Phe) c.1874G>T c.1897G>T (p.Val633Phe) c.1648G>T (p.Val550Phe) c.1556G>T (n.1556G>T) n.2082G>T c.1906G>T (p.Val636Phe) | |
| 4 | g.6301693T>A | CA356177062 | WFS1 | c.1934T>A (p.Val645Asp) c.1875T>A c.1898T>A (p.Val633Asp) c.1649T>A (p.Val550Asp) c.1557T>A (n.1557T>A) n.2083T>A c.1907T>A (p.Val636Asp) | |
| 4 | g.6301693T>C | CA356177063 | WFS1 | c.1934T>C (p.Val645Ala) c.1875T>C c.1898T>C (p.Val633Ala) c.1649T>C (p.Val550Ala) c.1557T>C (n.1557T>C) n.2083T>C c.1907T>C (p.Val636Ala) | |
| 4 | g.6301693T>G | CA356177064 | WFS1 | c.1934T>G (p.Val645Gly) c.1875T>G c.1898T>G (p.Val633Gly) c.1649T>G (p.Val550Gly) c.1557T>G (n.1557T>G) n.2083T>G c.1907T>G (p.Val636Gly) | |
| 4 | g.6301694C>A | CA438368640 | WFS1 | c.1935C>A (p.Val645=) c.1876C>A c.1899C>A (p.Val633=) c.1650C>A (p.Val550=) c.1558C>A (n.1558C>A) n.2084C>A c.1908C>A (p.Val636=) | |
| 4 | g.6301694C= | CA1435771670 | WFS1 | c.1935C= (p.Val645=) c.1876C= c.1899C= (p.Val633=) c.1650C= (p.Val550=) c.1558C= (n.1558C=) n.2084C= c.1908C= (p.Val636=) | |
| 4 | g.6301694C>G | CA438368641 | WFS1 | c.1935C>G (p.Val645=) c.1876C>G c.1899C>G (p.Val633=) c.1650C>G (p.Val550=) c.1558C>G (n.1558C>G) n.2084C>G c.1908C>G (p.Val636=) | |
| 4 | g.6301694C>T | CA2839537 | WFS1 | c.1935C>T (p.Val645=) c.1876C>T c.1899C>T (p.Val633=) c.1650C>T (p.Val550=) c.1558C>T (n.1558C>T) n.2084C>T c.1908C>T (p.Val636=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |