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 |
|---|---|---|---|---|---|
| 15 | g.27926156dup | CA7438784 | OCA2 | c.2055dup (p.Ala686CysfsTer?) c.1983dup (p.Ala662CysfsTer?) c.2079dup (p.Ala694CysfsTer?) c.2007dup (p.Ala670CysfsTer?) c.1941dup (p.Ala648CysfsTer?) c.2079dup (p.Ala694CysfsTer20) c.1884dup (p.Ala629CysfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27926156del | CA7438783 | OCA2 | c.2055del (p.Phe685LeufsTer7) c.1983del (p.Phe661LeufsTer7) c.2079del (p.Phe693LeufsTer7) c.2007del (p.Phe669LeufsTer7) c.1941del (p.Phe647LeufsTer7) c.1884del (p.Phe628LeufsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926156A= | CA2166365064 | OCA2 | c.2050T= (p.Phe684=) c.1978T= (p.Phe660=) c.2074T= (p.Phe692=) c.2002T= (p.Phe668=) c.1936T= (p.Phe646=) c.1879T= (p.Phe627=) | |
| 15 | g.27926156A>C | CA391361020 | OCA2 | c.2050T>G (p.Phe684Val) c.1978T>G (p.Phe660Val) c.2074T>G (p.Phe692Val) c.2002T>G (p.Phe668Val) c.1936T>G (p.Phe646Val) c.1879T>G (p.Phe627Val) | |
| 15 | g.27926156A>G | CA391361024 | OCA2 | c.2050T>C (p.Phe684Leu) c.1978T>C (p.Phe660Leu) c.2074T>C (p.Phe692Leu) c.2002T>C (p.Phe668Leu) c.1936T>C (p.Phe646Leu) c.1879T>C (p.Phe627Leu) | |
| 15 | g.27926156A>T | CA7438786 | OCA2 | c.2050T>A (p.Phe684Ile) c.1978T>A (p.Phe660Ile) c.2074T>A (p.Phe692Ile) c.2002T>A (p.Phe668Ile) c.1936T>A (p.Phe646Ile) c.1879T>A (p.Phe627Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27926156_27926157insG | CA7438787 | OCA2 | c.2049_2050insC (p.Phe684LeufsTer?) c.1977_1978insC (p.Phe660LeufsTer?) c.2073_2074insC (p.Phe692LeufsTer?) c.2001_2002insC (p.Phe668LeufsTer?) c.1935_1936insC (p.Phe646LeufsTer?) c.2073_2074insC (p.Phe692LeufsTer22) c.1878_1879insC (p.Phe627LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926157C>A | CA488959264 | OCA2 | c.2049G>T (p.Leu683=) c.1977G>T (p.Leu659=) c.2073G>T (p.Leu691=) c.2001G>T (p.Leu667=) c.1935G>T (p.Leu645=) c.1878G>T (p.Leu626=) | |
| 15 | g.27926157C>G | CA488959265 | OCA2 | c.2049G>C (p.Leu683=) c.1977G>C (p.Leu659=) c.2073G>C (p.Leu691=) c.2001G>C (p.Leu667=) c.1935G>C (p.Leu645=) c.1878G>C (p.Leu626=) | |
| 15 | g.27926157C>T | CA488959263 | OCA2 | c.2049G>A (p.Leu683=) c.1977G>A (p.Leu659=) c.2073G>A (p.Leu691=) c.2001G>A (p.Leu667=) c.1935G>A (p.Leu645=) c.1878G>A (p.Leu626=) | |
| 15 | g.27926158A= | CA2166365065 | OCA2 | c.2048T= (p.Leu683=) c.1976T= (p.Leu659=) c.2072T= (p.Leu691=) c.2000T= (p.Leu667=) c.1934T= (p.Leu645=) c.1877T= (p.Leu626=) | |
| 15 | g.27926158A>C | CA391361027 | OCA2 | c.2048T>G (p.Leu683Arg) c.1976T>G (p.Leu659Arg) c.2072T>G (p.Leu691Arg) c.2000T>G (p.Leu667Arg) c.1934T>G (p.Leu645Arg) c.1877T>G (p.Leu626Arg) | |
| 15 | g.27926158A>G | CA7438788 | OCA2 | c.2048T>C (p.Leu683Pro) c.1976T>C (p.Leu659Pro) c.2072T>C (p.Leu691Pro) c.2000T>C (p.Leu667Pro) c.1934T>C (p.Leu645Pro) c.1877T>C (p.Leu626Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27926158A>T | CA391361029 | OCA2 | c.2048T>A (p.Leu683Gln) c.1976T>A (p.Leu659Gln) c.2072T>A (p.Leu691Gln) c.2000T>A (p.Leu667Gln) c.1934T>A (p.Leu645Gln) c.1877T>A (p.Leu626Gln) | |
| 15 | g.27926159G>A | CA488959266 | OCA2 | c.2047C>T (p.Leu683=) c.1975C>T (p.Leu659=) c.2071C>T (p.Leu691=) c.1999C>T (p.Leu667=) c.1933C>T (p.Leu645=) c.1876C>T (p.Leu626=) | |
| 15 | g.27926159G>C | CA391361031 | OCA2 | c.2047C>G (p.Leu683Val) c.1975C>G (p.Leu659Val) c.2071C>G (p.Leu691Val) c.1999C>G (p.Leu667Val) c.1933C>G (p.Leu645Val) c.1876C>G (p.Leu626Val) | |
| 15 | g.27926159G>T | CA391361033 | OCA2 | c.2047C>A (p.Leu683Met) c.1975C>A (p.Leu659Met) c.2071C>A (p.Leu691Met) c.1999C>A (p.Leu667Met) c.1933C>A (p.Leu645Met) c.1876C>A (p.Leu626Met) | |
| 15 | g.27926160A>C | CA488959267 | OCA2 | c.2046T>G (p.Leu682=) c.1974T>G (p.Leu658=) c.2070T>G (p.Leu690=) c.1998T>G (p.Leu666=) c.1932T>G (p.Leu644=) c.1875T>G (p.Leu625=) | |
| 15 | g.27926160A>G | CA488959268 | OCA2 | c.2046T>C (p.Leu682=) c.1974T>C (p.Leu658=) c.2070T>C (p.Leu690=) c.1998T>C (p.Leu666=) c.1932T>C (p.Leu644=) c.1875T>C (p.Leu625=) | |
| 15 | g.27926160A>T | CA488959269 | OCA2 | c.2046T>A (p.Leu682=) c.1974T>A (p.Leu658=) c.2070T>A (p.Leu690=) c.1998T>A (p.Leu666=) c.1932T>A (p.Leu644=) c.1875T>A (p.Leu625=) | |
| 15 | g.27926161A= | CA2166365066 | OCA2 | c.2045T= (p.Leu682=) c.1973T= (p.Leu658=) c.2069T= (p.Leu690=) c.1997T= (p.Leu666=) c.1931T= (p.Leu644=) c.1874T= (p.Leu625=) | |
| 15 | g.27926161A>C | CA391361035 | OCA2 | c.2045T>G (p.Leu682Arg) c.1973T>G (p.Leu658Arg) c.2069T>G (p.Leu690Arg) c.1997T>G (p.Leu666Arg) c.1931T>G (p.Leu644Arg) c.1874T>G (p.Leu625Arg) | |
| 15 | g.27926161A>G | CA391361037 | OCA2 | c.2045T>C (p.Leu682Pro) c.1973T>C (p.Leu658Pro) c.2069T>C (p.Leu690Pro) c.1997T>C (p.Leu666Pro) c.1931T>C (p.Leu644Pro) c.1874T>C (p.Leu625Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.27926161A>T | CA391361039 | OCA2 | c.2045T>A (p.Leu682His) c.1973T>A (p.Leu658His) c.2069T>A (p.Leu690His) c.1997T>A (p.Leu666His) c.1931T>A (p.Leu644His) c.1874T>A (p.Leu625His) | |
| 15 | g.27926162G>A | CA391361041 | OCA2 | c.2044C>T (p.Leu682Phe) c.1972C>T (p.Leu658Phe) c.2068C>T (p.Leu690Phe) c.1996C>T (p.Leu666Phe) c.1930C>T (p.Leu644Phe) c.1873C>T (p.Leu625Phe) | |
| 15 | g.27926162G>C | CA391361042 | OCA2 | c.2044C>G (p.Leu682Val) c.1972C>G (p.Leu658Val) c.2068C>G (p.Leu690Val) c.1996C>G (p.Leu666Val) c.1930C>G (p.Leu644Val) c.1873C>G (p.Leu625Val) | gnomAD v4 |
| 15 | g.27926162G>T | CA391361044 | OCA2 | c.2044C>A (p.Leu682Ile) c.1972C>A (p.Leu658Ile) c.2068C>A (p.Leu690Ile) c.1996C>A (p.Leu666Ile) c.1930C>A (p.Leu644Ile) c.1873C>A (p.Leu625Ile) | |
| 15 | g.27926164del | CA488959270 | OCA2 | c.2044del (p.Leu682PhefsTer10) c.1972del (p.Leu658PhefsTer10) c.2068del (p.Leu690PhefsTer10) c.1996del (p.Leu666PhefsTer10) c.1930del (p.Leu644PhefsTer10) c.1873del (p.Leu625PhefsTer10) | |
| 15 | g.27926163G>A | CA488959271 | OCA2 | c.2043C>T (p.Thr681=) c.1971C>T (p.Thr657=) c.2067C>T (p.Thr689=) c.1995C>T (p.Thr665=) c.1929C>T (p.Thr643=) c.1872C>T (p.Thr624=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.27926163G>C | CA7438789 | OCA2 | c.2043C>G (p.Thr681=) c.1971C>G (p.Thr657=) c.2067C>G (p.Thr689=) c.1995C>G (p.Thr665=) c.1929C>G (p.Thr643=) c.1872C>G (p.Thr624=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926163G= | CA2166365067 | OCA2 | c.2043C= (p.Thr681=) c.1971C= (p.Thr657=) c.2067C= (p.Thr689=) c.1995C= (p.Thr665=) c.1929C= (p.Thr643=) c.1872C= (p.Thr624=) | |
| 15 | g.27926163G>T | CA7438790 | OCA2 | c.2043C>A (p.Thr681=) c.1971C>A (p.Thr657=) c.2067C>A (p.Thr689=) c.1995C>A (p.Thr665=) c.1929C>A (p.Thr643=) c.1872C>A (p.Thr624=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27926164G>A | CA391361050 | OCA2 | c.2042C>T (p.Thr681Ile) c.1970C>T (p.Thr657Ile) c.2066C>T (p.Thr689Ile) c.1994C>T (p.Thr665Ile) c.1928C>T (p.Thr643Ile) c.1871C>T (p.Thr624Ile) | |
| 15 | g.27926164G>C | CA391361051 | OCA2 | c.2042C>G (p.Thr681Ser) c.1970C>G (p.Thr657Ser) c.2066C>G (p.Thr689Ser) c.1994C>G (p.Thr665Ser) c.1928C>G (p.Thr643Ser) c.1871C>G (p.Thr624Ser) | dbSNP |
| 15 | g.27926164G= | CA2166365068 | OCA2 | c.2042C= (p.Thr681=) c.1970C= (p.Thr657=) c.2066C= (p.Thr689=) c.1994C= (p.Thr665=) c.1928C= (p.Thr643=) c.1871C= (p.Thr624=) | |
| 15 | g.27926164G>T | CA391361053 | OCA2 | c.2042C>A (p.Thr681Asn) c.1970C>A (p.Thr657Asn) c.2066C>A (p.Thr689Asn) c.1994C>A (p.Thr665Asn) c.1928C>A (p.Thr643Asn) c.1871C>A (p.Thr624Asn) | |
| 15 | g.27926165T>A | CA391361056 | OCA2 | c.2041A>T (p.Thr681Ser) c.1969A>T (p.Thr657Ser) c.2065A>T (p.Thr689Ser) c.1993A>T (p.Thr665Ser) c.1927A>T (p.Thr643Ser) c.1870A>T (p.Thr624Ser) | |
| 15 | g.27926165T>C | CA391361057 | OCA2 | c.2041A>G (p.Thr681Ala) c.1969A>G (p.Thr657Ala) c.2065A>G (p.Thr689Ala) c.1993A>G (p.Thr665Ala) c.1927A>G (p.Thr643Ala) c.1870A>G (p.Thr624Ala) | |
| 15 | g.27926165T>G | CA391361060 | OCA2 | c.2041A>C (p.Thr681Pro) c.1969A>C (p.Thr657Pro) c.2065A>C (p.Thr689Pro) c.1993A>C (p.Thr665Pro) c.1927A>C (p.Thr643Pro) c.1870A>C (p.Thr624Pro) | |
| 15 | g.27926166del | CA2730411292 | OCA2 | c.2041del (p.Thr681ProfsTer11) c.1969del (p.Thr657ProfsTer11) c.2065del (p.Thr689ProfsTer11) c.1993del (p.Thr665ProfsTer11) c.1927del (p.Thr643ProfsTer11) c.1870del (p.Thr624ProfsTer11) | dbSNP |
| 15 | g.27926166T>A | CA488959272 | OCA2 | c.2040A>T (p.Ala680=) c.1968A>T (p.Ala656=) c.2064A>T (p.Ala688=) c.1992A>T (p.Ala664=) c.1926A>T (p.Ala642=) c.1869A>T (p.Ala623=) | |
| 15 | g.27926166T>C | CA488959274 | OCA2 | c.2040A>G (p.Ala680=) c.1968A>G (p.Ala656=) c.2064A>G (p.Ala688=) c.1992A>G (p.Ala664=) c.1926A>G (p.Ala642=) c.1869A>G (p.Ala623=) | |
| 15 | g.27926166T>G | CA488959273 | OCA2 | c.2040A>C (p.Ala680=) c.1968A>C (p.Ala656=) c.2064A>C (p.Ala688=) c.1992A>C (p.Ala664=) c.1926A>C (p.Ala642=) c.1869A>C (p.Ala623=) | |
| 15 | g.27926167G>A | CA391361062 | OCA2 | c.2039C>T (p.Ala680Val) c.1967C>T (p.Ala656Val) c.2063C>T (p.Ala688Val) c.1991C>T (p.Ala664Val) c.1925C>T (p.Ala642Val) c.1868C>T (p.Ala623Val) | gnomAD v4 |
| 15 | g.27926167G>C | CA391361064 | OCA2 | c.2039C>G (p.Ala680Gly) c.1967C>G (p.Ala656Gly) c.2063C>G (p.Ala688Gly) c.1991C>G (p.Ala664Gly) c.1925C>G (p.Ala642Gly) c.1868C>G (p.Ala623Gly) | |
| 15 | g.27926167G>T | CA391361066 | OCA2 | c.2039C>A (p.Ala680Glu) c.1967C>A (p.Ala656Glu) c.2063C>A (p.Ala688Glu) c.1991C>A (p.Ala664Glu) c.1925C>A (p.Ala642Glu) c.1868C>A (p.Ala623Glu) | gnomAD v4 |
| 15 | g.27926167_27926174delinsCTA | CA2695197228 | OCA2 | c.2032_2039delinsTAG (p.Glu678Ter) c.1960_1967delinsTAG (p.Glu654Ter) c.2056_2063delinsTAG (p.Glu686Ter) c.1984_1991delinsTAG (p.Glu662Ter) c.1918_1925delinsTAG (p.Glu640Ter) c.1861_1868delinsTAG (p.Glu621Ter) | ClinVar |
| 15 | g.27926168C>A | CA391361068 | OCA2 | c.2038G>T (p.Ala680Ser) c.1966G>T (p.Ala656Ser) c.2062G>T (p.Ala688Ser) c.1990G>T (p.Ala664Ser) c.1924G>T (p.Ala642Ser) c.1867G>T (p.Ala623Ser) | |
| 15 | g.27926168C>G | CA391361070 | OCA2 | c.2038G>C (p.Ala680Pro) c.1966G>C (p.Ala656Pro) c.2062G>C (p.Ala688Pro) c.1990G>C (p.Ala664Pro) c.1924G>C (p.Ala642Pro) c.1867G>C (p.Ala623Pro) | |
| 15 | g.27926168C>T | CA391361071 | OCA2 | c.2038G>A (p.Ala680Thr) c.1966G>A (p.Ala656Thr) c.2062G>A (p.Ala688Thr) c.1990G>A (p.Ala664Thr) c.1924G>A (p.Ala642Thr) c.1867G>A (p.Ala623Thr) |