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.27871191G>A | CA242025 | OCA2 | c.2207C>T (p.Ser736Leu) c.2135C>T (p.Ser712Leu) c.2231C>T (p.Ser744Leu) c.2159C>T (p.Ser720Leu) c.2093C>T (p.Ser698Leu) c.2104-19716C>T (n.2104-19716C>T) c.2036C>T (p.Ser679Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.27871191G>C | CA391363395 | OCA2 | c.2207C>G (p.Ser736Trp) c.2135C>G (p.Ser712Trp) c.2231C>G (p.Ser744Trp) c.2159C>G (p.Ser720Trp) c.2093C>G (p.Ser698Trp) c.2104-19716C>G (n.2104-19716C>G) c.2036C>G (p.Ser679Trp) | |
| 15 | g.27871191G= | CA2166360940 | OCA2 | c.2207C= (p.Ser736=) c.2135C= (p.Ser712=) c.2231C= (p.Ser744=) c.2159C= (p.Ser720=) c.2093C= (p.Ser698=) c.2104-19716C= (n.2104-19716C=) c.2036C= (p.Ser679=) | |
| 15 | g.27871191G>T | CA391363396 | OCA2 | c.2207C>A (p.Ser736Ter) c.2135C>A (p.Ser712Ter) c.2231C>A (p.Ser744Ter) c.2159C>A (p.Ser720Ter) c.2093C>A (p.Ser698Ter) c.2104-19716C>A (n.2104-19716C>A) c.2036C>A (p.Ser679Ter) | |
| 15 | g.27871192A>C | CA391363397 | OCA2 | c.2206T>G (p.Ser736Ala) c.2134T>G (p.Ser712Ala) c.2230T>G (p.Ser744Ala) c.2158T>G (p.Ser720Ala) c.2092T>G (p.Ser698Ala) c.2104-19717T>G (n.2104-19717T>G) c.2035T>G (p.Ser679Ala) | |
| 15 | g.27871192A>G | CA391363398 | OCA2 | c.2206T>C (p.Ser736Pro) c.2134T>C (p.Ser712Pro) c.2230T>C (p.Ser744Pro) c.2158T>C (p.Ser720Pro) c.2092T>C (p.Ser698Pro) c.2104-19717T>C (n.2104-19717T>C) c.2035T>C (p.Ser679Pro) | |
| 15 | g.27871192A>T | CA391363399 | OCA2 | c.2206T>A (p.Ser736Thr) c.2134T>A (p.Ser712Thr) c.2230T>A (p.Ser744Thr) c.2158T>A (p.Ser720Thr) c.2092T>A (p.Ser698Thr) c.2104-19717T>A (n.2104-19717T>A) c.2035T>A (p.Ser679Thr) | |
| 15 | g.27871193C>A | CA488959437 | OCA2 | c.2205G>T (p.Ala735=) c.2133G>T (p.Ala711=) c.2229G>T (p.Ala743=) c.2157G>T (p.Ala719=) c.2091G>T (p.Ala697=) c.2104-19718G>T (n.2104-19718G>T) c.2034G>T (p.Ala678=) | |
| 15 | g.27871193C= | CA2166360941 | OCA2 | c.2205G= (p.Ala735=) c.2133G= (p.Ala711=) c.2229G= (p.Ala743=) c.2157G= (p.Ala719=) c.2091G= (p.Ala697=) c.2104-19718G= (n.2104-19718G=) c.2034G= (p.Ala678=) | |
| 15 | g.27871193C>G | CA488959439 | OCA2 | c.2205G>C (p.Ala735=) c.2133G>C (p.Ala711=) c.2229G>C (p.Ala743=) c.2157G>C (p.Ala719=) c.2091G>C (p.Ala697=) c.2104-19718G>C (n.2104-19718G>C) c.2034G>C (p.Ala678=) | |
| 15 | g.27871193C>T | CA7438711 | OCA2 | c.2205G>A (p.Ala735=) c.2133G>A (p.Ala711=) c.2229G>A (p.Ala743=) c.2157G>A (p.Ala719=) c.2091G>A (p.Ala697=) c.2104-19718G>A (n.2104-19718G>A) c.2034G>A (p.Ala678=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27871193_27871194insACCG | CA2695219835 | OCA2 | c.2204_2205insCGGT (p.Ser736GlyfsTer6) c.2132_2133insCGGT (p.Ser712GlyfsTer6) c.2228_2229insCGGT (p.Ser744GlyfsTer6) c.2156_2157insCGGT (p.Ser720GlyfsTer6) c.2090_2091insCGGT (p.Ser698GlyfsTer6) c.2104-19719_2104-19718insCGGT (n.2104-19719_2104-19718insCGGT) c.2033_2034insCGGT (p.Ser679GlyfsTer6) | |
| 15 | g.27871194G>A | CA267859844 | OCA2 | c.2204C>T (p.Ala735Val) c.2132C>T (p.Ala711Val) c.2228C>T (p.Ala743Val) c.2156C>T (p.Ala719Val) c.2090C>T (p.Ala697Val) c.2104-19719C>T (n.2104-19719C>T) c.2033C>T (p.Ala678Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.27871194G>C | CA391363401 | OCA2 | c.2204C>G (p.Ala735Gly) c.2132C>G (p.Ala711Gly) c.2228C>G (p.Ala743Gly) c.2156C>G (p.Ala719Gly) c.2090C>G (p.Ala697Gly) c.2104-19719C>G (n.2104-19719C>G) c.2033C>G (p.Ala678Gly) | |
| 15 | g.27871194G= | CA2166360942 | OCA2 | c.2204C= (p.Ala735=) c.2132C= (p.Ala711=) c.2228C= (p.Ala743=) c.2156C= (p.Ala719=) c.2090C= (p.Ala697=) c.2104-19719C= (n.2104-19719C=) c.2033C= (p.Ala678=) | |
| 15 | g.27871194G>T | CA391363400 | OCA2 | c.2204C>A (p.Ala735Glu) c.2132C>A (p.Ala711Glu) c.2228C>A (p.Ala743Glu) c.2156C>A (p.Ala719Glu) c.2090C>A (p.Ala697Glu) c.2104-19719C>A (n.2104-19719C>A) c.2033C>A (p.Ala678Glu) | |
| 15 | g.27871195C>A | CA391363402 | OCA2 | c.2203G>T (p.Ala735Ser) c.2131G>T (p.Ala711Ser) c.2227G>T (p.Ala743Ser) c.2155G>T (p.Ala719Ser) c.2089G>T (p.Ala697Ser) c.2104-19720G>T (n.2104-19720G>T) c.2032G>T (p.Ala678Ser) | |
| 15 | g.27871195C>G | CA391363403 | OCA2 | c.2203G>C (p.Ala735Pro) c.2131G>C (p.Ala711Pro) c.2227G>C (p.Ala743Pro) c.2155G>C (p.Ala719Pro) c.2089G>C (p.Ala697Pro) c.2104-19720G>C (n.2104-19720G>C) c.2032G>C (p.Ala678Pro) | |
| 15 | g.27871195C>T | CA391363404 | OCA2 | c.2203G>A (p.Ala735Thr) c.2131G>A (p.Ala711Thr) c.2227G>A (p.Ala743Thr) c.2155G>A (p.Ala719Thr) c.2089G>A (p.Ala697Thr) c.2104-19720G>A (n.2104-19720G>A) c.2032G>A (p.Ala678Thr) | |
| 15 | g.27871196C>A | CA488959445 | OCA2 | c.2202G>T (p.Leu734=) c.2130G>T (p.Leu710=) c.2226G>T (p.Leu742=) c.2154G>T (p.Leu718=) c.2088G>T (p.Leu696=) c.2104-19721G>T (n.2104-19721G>T) c.2031G>T (p.Leu677=) | COSMIC |
| 15 | g.27871196C>G | CA488959444 | OCA2 | c.2202G>C (p.Leu734=) c.2130G>C (p.Leu710=) c.2226G>C (p.Leu742=) c.2154G>C (p.Leu718=) c.2088G>C (p.Leu696=) c.2104-19721G>C (n.2104-19721G>C) c.2031G>C (p.Leu677=) | |
| 15 | g.27871196C>T | CA488959443 | OCA2 | c.2202G>A (p.Leu734=) c.2130G>A (p.Leu710=) c.2226G>A (p.Leu742=) c.2154G>A (p.Leu718=) c.2088G>A (p.Leu696=) c.2104-19721G>A (n.2104-19721G>A) c.2031G>A (p.Leu677=) | |
| 15 | g.27871197A= | CA2166360943 | OCA2 | c.2201T= (p.Leu734=) c.2129T= (p.Leu710=) c.2225T= (p.Leu742=) c.2153T= (p.Leu718=) c.2087T= (p.Leu696=) c.2104-19722T= (n.2104-19722T=) c.2030T= (p.Leu677=) | |
| 15 | g.27871197A>C | CA7438712 | OCA2 | c.2201T>G (p.Leu734Arg) c.2129T>G (p.Leu710Arg) c.2225T>G (p.Leu742Arg) c.2153T>G (p.Leu718Arg) c.2087T>G (p.Leu696Arg) c.2104-19722T>G (n.2104-19722T>G) c.2030T>G (p.Leu677Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27871197A>G | CA391363405 | OCA2 | c.2201T>C (p.Leu734Pro) c.2129T>C (p.Leu710Pro) c.2225T>C (p.Leu742Pro) c.2153T>C (p.Leu718Pro) c.2087T>C (p.Leu696Pro) c.2104-19722T>C (n.2104-19722T>C) c.2030T>C (p.Leu677Pro) | dbSNP gnomAD v4 |
| 15 | g.27871197A>T | CA391363406 | OCA2 | c.2201T>A (p.Leu734Gln) c.2129T>A (p.Leu710Gln) c.2225T>A (p.Leu742Gln) c.2153T>A (p.Leu718Gln) c.2087T>A (p.Leu696Gln) c.2104-19722T>A (n.2104-19722T>A) c.2030T>A (p.Leu677Gln) | |
| 15 | g.27871198G>A | CA488959449 | OCA2 | c.2200C>T (p.Leu734=) c.2128C>T (p.Leu710=) c.2224C>T (p.Leu742=) c.2152C>T (p.Leu718=) c.2086C>T (p.Leu696=) c.2104-19723C>T (n.2104-19723C>T) c.2029C>T (p.Leu677=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.27871198G>C | CA391363407 | OCA2 | c.2200C>G (p.Leu734Val) c.2128C>G (p.Leu710Val) c.2224C>G (p.Leu742Val) c.2152C>G (p.Leu718Val) c.2086C>G (p.Leu696Val) c.2104-19723C>G (n.2104-19723C>G) c.2029C>G (p.Leu677Val) | |
| 15 | g.27871198G= | CA2166360944 | OCA2 | c.2200C= (p.Leu734=) c.2128C= (p.Leu710=) c.2224C= (p.Leu742=) c.2152C= (p.Leu718=) c.2086C= (p.Leu696=) c.2104-19723C= (n.2104-19723C=) c.2029C= (p.Leu677=) | |
| 15 | g.27871198G>T | CA391363408 | OCA2 | c.2200C>A (p.Leu734Met) c.2128C>A (p.Leu710Met) c.2224C>A (p.Leu742Met) c.2152C>A (p.Leu718Met) c.2086C>A (p.Leu696Met) c.2104-19723C>A (n.2104-19723C>A) c.2029C>A (p.Leu677Met) | |
| 15 | g.27871199G>A | CA488959450 | OCA2 | c.2199C>T (p.Ala733=) c.2127C>T (p.Ala709=) c.2223C>T (p.Ala741=) c.2151C>T (p.Ala717=) c.2085C>T (p.Ala695=) c.2104-19724C>T (n.2104-19724C>T) c.2028C>T (p.Ala676=) | |
| 15 | g.27871199G>C | CA488959452 | OCA2 | c.2199C>G (p.Ala733=) c.2127C>G (p.Ala709=) c.2223C>G (p.Ala741=) c.2151C>G (p.Ala717=) c.2085C>G (p.Ala695=) c.2104-19724C>G (n.2104-19724C>G) c.2028C>G (p.Ala676=) | |
| 15 | g.27871199G>T | CA488959453 | OCA2 | c.2199C>A (p.Ala733=) c.2127C>A (p.Ala709=) c.2223C>A (p.Ala741=) c.2151C>A (p.Ala717=) c.2085C>A (p.Ala695=) c.2104-19724C>A (n.2104-19724C>A) c.2028C>A (p.Ala676=) | |
| 15 | g.27871200G>A | CA391363409 | OCA2 | c.2198C>T (p.Ala733Val) c.2126C>T (p.Ala709Val) c.2222C>T (p.Ala741Val) c.2150C>T (p.Ala717Val) c.2084C>T (p.Ala695Val) c.2104-19725C>T (n.2104-19725C>T) c.2027C>T (p.Ala676Val) | |
| 15 | g.27871200G>C | CA391363410 | OCA2 | c.2198C>G (p.Ala733Gly) c.2126C>G (p.Ala709Gly) c.2222C>G (p.Ala741Gly) c.2150C>G (p.Ala717Gly) c.2084C>G (p.Ala695Gly) c.2104-19725C>G (n.2104-19725C>G) c.2027C>G (p.Ala676Gly) | |
| 15 | g.27871200G>T | CA391363411 | OCA2 | c.2198C>A (p.Ala733Asp) c.2126C>A (p.Ala709Asp) c.2222C>A (p.Ala741Asp) c.2150C>A (p.Ala717Asp) c.2084C>A (p.Ala695Asp) c.2104-19725C>A (n.2104-19725C>A) c.2027C>A (p.Ala676Asp) | COSMIC |
| 15 | g.27871201C>A | CA391363412 | OCA2 | c.2197G>T (p.Ala733Ser) c.2125G>T (p.Ala709Ser) c.2221G>T (p.Ala741Ser) c.2149G>T (p.Ala717Ser) c.2083G>T (p.Ala695Ser) c.2104-19726G>T (n.2104-19726G>T) c.2026G>T (p.Ala676Ser) | |
| 15 | g.27871201C= | CA2166360945 | OCA2 | c.2197G= (p.Ala733=) c.2125G= (p.Ala709=) c.2221G= (p.Ala741=) c.2149G= (p.Ala717=) c.2083G= (p.Ala695=) c.2104-19726G= (n.2104-19726G=) c.2026G= (p.Ala676=) | |
| 15 | g.27871201C>G | CA391363413 | OCA2 | c.2197G>C (p.Ala733Pro) c.2125G>C (p.Ala709Pro) c.2221G>C (p.Ala741Pro) c.2149G>C (p.Ala717Pro) c.2083G>C (p.Ala695Pro) c.2104-19726G>C (n.2104-19726G>C) c.2026G>C (p.Ala676Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27871201C>T | CA391363414 | OCA2 | c.2197G>A (p.Ala733Thr) c.2125G>A (p.Ala709Thr) c.2221G>A (p.Ala741Thr) c.2149G>A (p.Ala717Thr) c.2083G>A (p.Ala695Thr) c.2104-19726G>A (n.2104-19726G>A) c.2026G>A (p.Ala676Thr) | |
| 15 | g.27871202T>A | CA488959454 | OCA2 | c.2196A>T (p.Ser732=) c.2124A>T (p.Ser708=) c.2220A>T (p.Ser740=) c.2148A>T (p.Ser716=) c.2082A>T (p.Ser694=) c.2104-19727A>T (n.2104-19727A>T) c.2025A>T (p.Ser675=) | dbSNP |
| 15 | g.27871202T>C | CA488959456 | OCA2 | c.2196A>G (p.Ser732=) c.2124A>G (p.Ser708=) c.2220A>G (p.Ser740=) c.2148A>G (p.Ser716=) c.2082A>G (p.Ser694=) c.2104-19727A>G (n.2104-19727A>G) c.2025A>G (p.Ser675=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.27871202T>G | CA488959455 | OCA2 | c.2196A>C (p.Ser732=) c.2124A>C (p.Ser708=) c.2220A>C (p.Ser740=) c.2148A>C (p.Ser716=) c.2082A>C (p.Ser694=) c.2104-19727A>C (n.2104-19727A>C) c.2025A>C (p.Ser675=) | |
| 15 | g.27871202T= | CA2166360946 | OCA2 | c.2196A= (p.Ser732=) c.2124A= (p.Ser708=) c.2220A= (p.Ser740=) c.2148A= (p.Ser716=) c.2082A= (p.Ser694=) c.2104-19727A= (n.2104-19727A=) c.2025A= (p.Ser675=) | |
| 15 | g.27871203G>A | CA391363416 | OCA2 | c.2195C>T (p.Ser732Leu) c.2123C>T (p.Ser708Leu) c.2219C>T (p.Ser740Leu) c.2147C>T (p.Ser716Leu) c.2081C>T (p.Ser694Leu) c.2104-19728C>T (n.2104-19728C>T) c.2024C>T (p.Ser675Leu) | dbSNP gnomAD v4 |
| 15 | g.27871203G>C | CA391363417 | OCA2 | c.2195C>G (p.Ser732Ter) c.2123C>G (p.Ser708Ter) c.2219C>G (p.Ser740Ter) c.2147C>G (p.Ser716Ter) c.2081C>G (p.Ser694Ter) c.2104-19728C>G (n.2104-19728C>G) c.2024C>G (p.Ser675Ter) | ClinVar |
| 15 | g.27871203G= | CA2166360947 | OCA2 | c.2195C= (p.Ser732=) c.2123C= (p.Ser708=) c.2219C= (p.Ser740=) c.2147C= (p.Ser716=) c.2081C= (p.Ser694=) c.2104-19728C= (n.2104-19728C=) c.2024C= (p.Ser675=) | |
| 15 | g.27871203G>T | CA391363415 | OCA2 | c.2195C>A (p.Ser732Ter) c.2123C>A (p.Ser708Ter) c.2219C>A (p.Ser740Ter) c.2147C>A (p.Ser716Ter) c.2081C>A (p.Ser694Ter) c.2104-19728C>A (n.2104-19728C>A) c.2024C>A (p.Ser675Ter) | |
| 15 | g.27871204A>C | CA391363418 | OCA2 | c.2194T>G (p.Ser732Ala) c.2122T>G (p.Ser708Ala) c.2218T>G (p.Ser740Ala) c.2146T>G (p.Ser716Ala) c.2080T>G (p.Ser694Ala) c.2104-19729T>G (n.2104-19729T>G) c.2023T>G (p.Ser675Ala) | |
| 15 | g.27871204A>G | CA391363419 | OCA2 | c.2194T>C (p.Ser732Pro) c.2122T>C (p.Ser708Pro) c.2218T>C (p.Ser740Pro) c.2146T>C (p.Ser716Pro) c.2080T>C (p.Ser694Pro) c.2104-19729T>C (n.2104-19729T>C) c.2023T>C (p.Ser675Pro) |