Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.27851423G>A | CA7438649 | OCA2 | c.2297C>T (p.Pro766Leu) c.2225C>T (p.Pro742Leu) c.2363C>T (p.Pro788Leu) c.2339C>T (p.Pro780Leu) c.2321C>T (p.Pro774Leu) c.2291C>T (p.Pro764Leu) c.2249C>T (p.Pro750Leu) c.2156C>T (p.Pro719Leu) c.2168C>T (p.Pro723Leu) c.2268+19731C>T (n.2268+19731C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851423G>C | CA391360068 | OCA2 | c.2297C>G (p.Pro766Arg) c.2225C>G (p.Pro742Arg) c.2363C>G (p.Pro788Arg) c.2339C>G (p.Pro780Arg) c.2321C>G (p.Pro774Arg) c.2291C>G (p.Pro764Arg) c.2249C>G (p.Pro750Arg) c.2156C>G (p.Pro719Arg) c.2168C>G (p.Pro723Arg) c.2268+19731C>G (n.2268+19731C>G) | |
15 | g.27851423G= | CA2166352008 | OCA2 | c.2297C= (p.Pro766=) c.2225C= (p.Pro742=) c.2363C= (p.Pro788=) c.2339C= (p.Pro780=) c.2321C= (p.Pro774=) c.2291C= (p.Pro764=) c.2249C= (p.Pro750=) c.2156C= (p.Pro719=) c.2168C= (p.Pro723=) c.2268+19731C= (n.2268+19731C=) | |
15 | g.27851423G>T | CA391360070 | OCA2 | c.2297C>A (p.Pro766Gln) c.2225C>A (p.Pro742Gln) c.2363C>A (p.Pro788Gln) c.2339C>A (p.Pro780Gln) c.2321C>A (p.Pro774Gln) c.2291C>A (p.Pro764Gln) c.2249C>A (p.Pro750Gln) c.2156C>A (p.Pro719Gln) c.2168C>A (p.Pro723Gln) c.2268+19731C>A (n.2268+19731C>A) | gnomAD v4 |
15 | g.27851424G>A | CA391360072 | OCA2 | c.2296C>T (p.Pro766Ser) c.2224C>T (p.Pro742Ser) c.2362C>T (p.Pro788Ser) c.2338C>T (p.Pro780Ser) c.2320C>T (p.Pro774Ser) c.2290C>T (p.Pro764Ser) c.2248C>T (p.Pro750Ser) c.2155C>T (p.Pro719Ser) c.2167C>T (p.Pro723Ser) c.2268+19730C>T (n.2268+19730C>T) | dbSNP gnomAD v4 |
15 | g.27851424G>C | CA7438651 | OCA2 | c.2296C>G (p.Pro766Ala) c.2224C>G (p.Pro742Ala) c.2362C>G (p.Pro788Ala) c.2338C>G (p.Pro780Ala) c.2320C>G (p.Pro774Ala) c.2290C>G (p.Pro764Ala) c.2248C>G (p.Pro750Ala) c.2155C>G (p.Pro719Ala) c.2167C>G (p.Pro723Ala) c.2268+19730C>G (n.2268+19730C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851424G= | CA2166352009 | OCA2 | c.2296C= (p.Pro766=) c.2224C= (p.Pro742=) c.2362C= (p.Pro788=) c.2338C= (p.Pro780=) c.2320C= (p.Pro774=) c.2290C= (p.Pro764=) c.2248C= (p.Pro750=) c.2155C= (p.Pro719=) c.2167C= (p.Pro723=) c.2268+19730C= (n.2268+19730C=) | |
15 | g.27851424G>T | CA7438650 | OCA2 | c.2296C>A (p.Pro766Thr) c.2224C>A (p.Pro742Thr) c.2362C>A (p.Pro788Thr) c.2338C>A (p.Pro780Thr) c.2320C>A (p.Pro774Thr) c.2290C>A (p.Pro764Thr) c.2248C>A (p.Pro750Thr) c.2155C>A (p.Pro719Thr) c.2167C>A (p.Pro723Thr) c.2268+19730C>A (n.2268+19730C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851425T>A | CA488959065 | OCA2 | c.2295A>T (p.Ala765=) c.2223A>T (p.Ala741=) c.2361A>T (p.Ala787=) c.2337A>T (p.Ala779=) c.2319A>T (p.Ala773=) c.2289A>T (p.Ala763=) c.2247A>T (p.Ala749=) c.2154A>T (p.Ala718=) c.2166A>T (p.Ala722=) c.2268+19729A>T (n.2268+19729A>T) | |
15 | g.27851425T>C | CA7438652 | OCA2 | c.2295A>G (p.Ala765=) c.2223A>G (p.Ala741=) c.2361A>G (p.Ala787=) c.2337A>G (p.Ala779=) c.2319A>G (p.Ala773=) c.2289A>G (p.Ala763=) c.2247A>G (p.Ala749=) c.2154A>G (p.Ala718=) c.2166A>G (p.Ala722=) c.2268+19729A>G (n.2268+19729A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27851425T>G | CA267845163 | OCA2 | c.2295A>C (p.Ala765=) c.2223A>C (p.Ala741=) c.2361A>C (p.Ala787=) c.2337A>C (p.Ala779=) c.2319A>C (p.Ala773=) c.2289A>C (p.Ala763=) c.2247A>C (p.Ala749=) c.2154A>C (p.Ala718=) c.2166A>C (p.Ala722=) c.2268+19729A>C (n.2268+19729A>C) | dbSNP |
15 | g.27851425T= | CA2166352010 | OCA2 | c.2295A= (p.Ala765=) c.2223A= (p.Ala741=) c.2361A= (p.Ala787=) c.2337A= (p.Ala779=) c.2319A= (p.Ala773=) c.2289A= (p.Ala763=) c.2247A= (p.Ala749=) c.2154A= (p.Ala718=) c.2166A= (p.Ala722=) c.2268+19729A= (n.2268+19729A=) | |
15 | g.27851426G>A | CA391360075 | OCA2 | c.2294C>T (p.Ala765Val) c.2222C>T (p.Ala741Val) c.2360C>T (p.Ala787Val) c.2336C>T (p.Ala779Val) c.2318C>T (p.Ala773Val) c.2288C>T (p.Ala763Val) c.2246C>T (p.Ala749Val) c.2153C>T (p.Ala718Val) c.2165C>T (p.Ala722Val) c.2268+19728C>T (n.2268+19728C>T) | dbSNP |
15 | g.27851426G>C | CA391360078 | OCA2 | c.2294C>G (p.Ala765Gly) c.2222C>G (p.Ala741Gly) c.2360C>G (p.Ala787Gly) c.2336C>G (p.Ala779Gly) c.2318C>G (p.Ala773Gly) c.2288C>G (p.Ala763Gly) c.2246C>G (p.Ala749Gly) c.2153C>G (p.Ala718Gly) c.2165C>G (p.Ala722Gly) c.2268+19728C>G (n.2268+19728C>G) | |
15 | g.27851426G= | CA2166352011 | OCA2 | c.2294C= (p.Ala765=) c.2222C= (p.Ala741=) c.2360C= (p.Ala787=) c.2336C= (p.Ala779=) c.2318C= (p.Ala773=) c.2288C= (p.Ala763=) c.2246C= (p.Ala749=) c.2153C= (p.Ala718=) c.2165C= (p.Ala722=) c.2268+19728C= (n.2268+19728C=) | |
15 | g.27851426G>T | CA391360077 | OCA2 | c.2294C>A (p.Ala765Glu) c.2222C>A (p.Ala741Glu) c.2360C>A (p.Ala787Glu) c.2336C>A (p.Ala779Glu) c.2318C>A (p.Ala773Glu) c.2288C>A (p.Ala763Glu) c.2246C>A (p.Ala749Glu) c.2153C>A (p.Ala718Glu) c.2165C>A (p.Ala722Glu) c.2268+19728C>A (n.2268+19728C>A) | |
15 | g.27851427C>A | CA391360079 | OCA2 | c.2293G>T (p.Ala765Ser) c.2221G>T (p.Ala741Ser) c.2359G>T (p.Ala787Ser) c.2335G>T (p.Ala779Ser) c.2317G>T (p.Ala773Ser) c.2287G>T (p.Ala763Ser) c.2245G>T (p.Ala749Ser) c.2152G>T (p.Ala718Ser) c.2164G>T (p.Ala722Ser) c.2268+19727G>T (n.2268+19727G>T) | gnomAD v4 |
15 | g.27851427C= | CA2166352012 | OCA2 | c.2293G= (p.Ala765=) c.2221G= (p.Ala741=) c.2359G= (p.Ala787=) c.2335G= (p.Ala779=) c.2317G= (p.Ala773=) c.2287G= (p.Ala763=) c.2245G= (p.Ala749=) c.2152G= (p.Ala718=) c.2164G= (p.Ala722=) c.2268+19727G= (n.2268+19727G=) | |
15 | g.27851427C>G | CA391360080 | OCA2 | c.2293G>C (p.Ala765Pro) c.2221G>C (p.Ala741Pro) c.2359G>C (p.Ala787Pro) c.2335G>C (p.Ala779Pro) c.2317G>C (p.Ala773Pro) c.2287G>C (p.Ala763Pro) c.2245G>C (p.Ala749Pro) c.2152G>C (p.Ala718Pro) c.2164G>C (p.Ala722Pro) c.2268+19727G>C (n.2268+19727G>C) | |
15 | g.27851427C>T | CA242139 | OCA2 | c.2293G>A (p.Ala765Thr) c.2221G>A (p.Ala741Thr) c.2359G>A (p.Ala787Thr) c.2335G>A (p.Ala779Thr) c.2317G>A (p.Ala773Thr) c.2287G>A (p.Ala763Thr) c.2245G>A (p.Ala749Thr) c.2152G>A (p.Ala718Thr) c.2164G>A (p.Ala722Thr) c.2268+19727G>A (n.2268+19727G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851428G>A | CA7438653 | OCA2 | c.2292C>T (p.Pro764=) c.2220C>T (p.Pro740=) c.2358C>T (p.Pro786=) c.2334C>T (p.Pro778=) c.2316C>T (p.Pro772=) c.2286C>T (p.Pro762=) c.2244C>T (p.Pro748=) c.2151C>T (p.Pro717=) c.2163C>T (p.Pro721=) c.2268+19726C>T (n.2268+19726C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851428G>C | CA488959070 | OCA2 | c.2292C>G (p.Pro764=) c.2220C>G (p.Pro740=) c.2358C>G (p.Pro786=) c.2334C>G (p.Pro778=) c.2316C>G (p.Pro772=) c.2286C>G (p.Pro762=) c.2244C>G (p.Pro748=) c.2151C>G (p.Pro717=) c.2163C>G (p.Pro721=) c.2268+19726C>G (n.2268+19726C>G) | ClinVar gnomAD v4 |
15 | g.27851428G= | CA2166352013 | OCA2 | c.2292C= (p.Pro764=) c.2220C= (p.Pro740=) c.2358C= (p.Pro786=) c.2334C= (p.Pro778=) c.2316C= (p.Pro772=) c.2286C= (p.Pro762=) c.2244C= (p.Pro748=) c.2151C= (p.Pro717=) c.2163C= (p.Pro721=) c.2268+19726C= (n.2268+19726C=) | |
15 | g.27851428G>T | CA488959071 | OCA2 | c.2292C>A (p.Pro764=) c.2220C>A (p.Pro740=) c.2358C>A (p.Pro786=) c.2334C>A (p.Pro778=) c.2316C>A (p.Pro772=) c.2286C>A (p.Pro762=) c.2244C>A (p.Pro748=) c.2151C>A (p.Pro717=) c.2163C>A (p.Pro721=) c.2268+19726C>A (n.2268+19726C>A) | |
15 | g.27851429G>A | CA267845178 | OCA2 | c.2291C>T (p.Pro764Leu) c.2219C>T (p.Pro740Leu) c.2357C>T (p.Pro786Leu) c.2333C>T (p.Pro778Leu) c.2315C>T (p.Pro772Leu) c.2285C>T (p.Pro762Leu) c.2243C>T (p.Pro748Leu) c.2150C>T (p.Pro717Leu) c.2162C>T (p.Pro721Leu) c.2268+19725C>T (n.2268+19725C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851429G>C | CA391360086 | OCA2 | c.2291C>G (p.Pro764Arg) c.2219C>G (p.Pro740Arg) c.2357C>G (p.Pro786Arg) c.2333C>G (p.Pro778Arg) c.2315C>G (p.Pro772Arg) c.2285C>G (p.Pro762Arg) c.2243C>G (p.Pro748Arg) c.2150C>G (p.Pro717Arg) c.2162C>G (p.Pro721Arg) c.2268+19725C>G (n.2268+19725C>G) | |
15 | g.27851429G= | CA2166352014 | OCA2 | c.2291C= (p.Pro764=) c.2219C= (p.Pro740=) c.2357C= (p.Pro786=) c.2333C= (p.Pro778=) c.2315C= (p.Pro772=) c.2285C= (p.Pro762=) c.2243C= (p.Pro748=) c.2150C= (p.Pro717=) c.2162C= (p.Pro721=) c.2268+19725C= (n.2268+19725C=) | |
15 | g.27851429G>T | CA391360089 | OCA2 | c.2291C>A (p.Pro764His) c.2219C>A (p.Pro740His) c.2357C>A (p.Pro786His) c.2333C>A (p.Pro778His) c.2315C>A (p.Pro772His) c.2285C>A (p.Pro762His) c.2243C>A (p.Pro748His) c.2150C>A (p.Pro717His) c.2162C>A (p.Pro721His) c.2268+19725C>A (n.2268+19725C>A) | |
15 | g.27851430G>A | CA391360092 | OCA2 | c.2290C>T (p.Pro764Ser) c.2218C>T (p.Pro740Ser) c.2356C>T (p.Pro786Ser) c.2332C>T (p.Pro778Ser) c.2314C>T (p.Pro772Ser) c.2284C>T (p.Pro762Ser) c.2242C>T (p.Pro748Ser) c.2149C>T (p.Pro717Ser) c.2161C>T (p.Pro721Ser) c.2268+19724C>T (n.2268+19724C>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27851430G>C | CA7438654 | OCA2 | c.2290C>G (p.Pro764Ala) c.2218C>G (p.Pro740Ala) c.2356C>G (p.Pro786Ala) c.2332C>G (p.Pro778Ala) c.2314C>G (p.Pro772Ala) c.2284C>G (p.Pro762Ala) c.2242C>G (p.Pro748Ala) c.2149C>G (p.Pro717Ala) c.2161C>G (p.Pro721Ala) c.2268+19724C>G (n.2268+19724C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851430G= | CA2166352015 | OCA2 | c.2290C= (p.Pro764=) c.2218C= (p.Pro740=) c.2356C= (p.Pro786=) c.2332C= (p.Pro778=) c.2314C= (p.Pro772=) c.2284C= (p.Pro762=) c.2242C= (p.Pro748=) c.2149C= (p.Pro717=) c.2161C= (p.Pro721=) c.2268+19724C= (n.2268+19724C=) | |
15 | g.27851430G>T | CA391360094 | OCA2 | c.2290C>A (p.Pro764Thr) c.2218C>A (p.Pro740Thr) c.2356C>A (p.Pro786Thr) c.2332C>A (p.Pro778Thr) c.2314C>A (p.Pro772Thr) c.2284C>A (p.Pro762Thr) c.2242C>A (p.Pro748Thr) c.2149C>A (p.Pro717Thr) c.2161C>A (p.Pro721Thr) c.2268+19724C>A (n.2268+19724C>A) | |
15 | g.27851431C>A | CA7438655 | OCA2 | c.2289G>T (p.Leu763=) c.2217G>T (p.Leu739=) c.2355G>T (p.Leu785=) c.2331G>T (p.Leu777=) c.2313G>T (p.Leu771=) c.2283G>T (p.Leu761=) c.2241G>T (p.Leu747=) c.2148G>T (p.Leu716=) c.2160G>T (p.Leu720=) c.2268+19723G>T (n.2268+19723G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27851431C= | CA2166352016 | OCA2 | c.2289G= (p.Leu763=) c.2217G= (p.Leu739=) c.2355G= (p.Leu785=) c.2331G= (p.Leu777=) c.2313G= (p.Leu771=) c.2283G= (p.Leu761=) c.2241G= (p.Leu747=) c.2148G= (p.Leu716=) c.2160G= (p.Leu720=) c.2268+19723G= (n.2268+19723G=) | |
15 | g.27851431C>G | CA488959076 | OCA2 | c.2289G>C (p.Leu763=) c.2217G>C (p.Leu739=) c.2355G>C (p.Leu785=) c.2331G>C (p.Leu777=) c.2313G>C (p.Leu771=) c.2283G>C (p.Leu761=) c.2241G>C (p.Leu747=) c.2148G>C (p.Leu716=) c.2160G>C (p.Leu720=) c.2268+19723G>C (n.2268+19723G>C) | |
15 | g.27851431C>T | CA488959077 | OCA2 | c.2289G>A (p.Leu763=) c.2217G>A (p.Leu739=) c.2355G>A (p.Leu785=) c.2331G>A (p.Leu777=) c.2313G>A (p.Leu771=) c.2283G>A (p.Leu761=) c.2241G>A (p.Leu747=) c.2148G>A (p.Leu716=) c.2160G>A (p.Leu720=) c.2268+19723G>A (n.2268+19723G>A) | gnomAD v4 |
15 | g.27851432A>C | CA391360096 | OCA2 | c.2288T>G (p.Leu763Arg) c.2216T>G (p.Leu739Arg) c.2354T>G (p.Leu785Arg) c.2330T>G (p.Leu777Arg) c.2312T>G (p.Leu771Arg) c.2282T>G (p.Leu761Arg) c.2240T>G (p.Leu747Arg) c.2147T>G (p.Leu716Arg) c.2159T>G (p.Leu720Arg) c.2268+19722T>G (n.2268+19722T>G) | |
15 | g.27851432A>G | CA391360105 | OCA2 | c.2288T>C (p.Leu763Pro) c.2216T>C (p.Leu739Pro) c.2354T>C (p.Leu785Pro) c.2330T>C (p.Leu777Pro) c.2312T>C (p.Leu771Pro) c.2282T>C (p.Leu761Pro) c.2240T>C (p.Leu747Pro) c.2147T>C (p.Leu716Pro) c.2159T>C (p.Leu720Pro) c.2268+19722T>C (n.2268+19722T>C) | |
15 | g.27851432A>T | CA391360098 | OCA2 | c.2288T>A (p.Leu763Gln) c.2216T>A (p.Leu739Gln) c.2354T>A (p.Leu785Gln) c.2330T>A (p.Leu777Gln) c.2312T>A (p.Leu771Gln) c.2282T>A (p.Leu761Gln) c.2240T>A (p.Leu747Gln) c.2147T>A (p.Leu716Gln) c.2159T>A (p.Leu720Gln) c.2268+19722T>A (n.2268+19722T>A) | |
15 | g.27851433G>A | CA7438657 | OCA2 | c.2287C>T (p.Leu763=) c.2215C>T (p.Leu739=) c.2353C>T (p.Leu785=) c.2329C>T (p.Leu777=) c.2311C>T (p.Leu771=) c.2281C>T (p.Leu761=) c.2239C>T (p.Leu747=) c.2146C>T (p.Leu716=) c.2158C>T (p.Leu720=) c.2268+19721C>T (n.2268+19721C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851433G>C | CA391360110 | OCA2 | c.2287C>G (p.Leu763Val) c.2215C>G (p.Leu739Val) c.2353C>G (p.Leu785Val) c.2329C>G (p.Leu777Val) c.2311C>G (p.Leu771Val) c.2281C>G (p.Leu761Val) c.2239C>G (p.Leu747Val) c.2146C>G (p.Leu716Val) c.2158C>G (p.Leu720Val) c.2268+19721C>G (n.2268+19721C>G) | dbSNP gnomAD v4 |
15 | g.27851433G= | CA2166352017 | OCA2 | c.2287C= (p.Leu763=) c.2215C= (p.Leu739=) c.2353C= (p.Leu785=) c.2329C= (p.Leu777=) c.2311C= (p.Leu771=) c.2281C= (p.Leu761=) c.2239C= (p.Leu747=) c.2146C= (p.Leu716=) c.2158C= (p.Leu720=) c.2268+19721C= (n.2268+19721C=) | |
15 | g.27851433G>T | CA7438656 | OCA2 | c.2287C>A (p.Leu763Met) c.2215C>A (p.Leu739Met) c.2353C>A (p.Leu785Met) c.2329C>A (p.Leu777Met) c.2311C>A (p.Leu771Met) c.2281C>A (p.Leu761Met) c.2239C>A (p.Leu747Met) c.2146C>A (p.Leu716Met) c.2158C>A (p.Leu720Met) c.2268+19721C>A (n.2268+19721C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851434G>A | CA488959081 | OCA2 | c.2286C>T (p.Gly762=) c.2214C>T (p.Gly738=) c.2352C>T (p.Gly784=) c.2328C>T (p.Gly776=) c.2310C>T (p.Gly770=) c.2280C>T (p.Gly760=) c.2238C>T (p.Gly746=) c.2145C>T (p.Gly715=) c.2157C>T (p.Gly719=) c.2268+19720C>T (n.2268+19720C>T) | gnomAD v4 |
15 | g.27851434G>C | CA488959084 | OCA2 | c.2286C>G (p.Gly762=) c.2214C>G (p.Gly738=) c.2352C>G (p.Gly784=) c.2328C>G (p.Gly776=) c.2310C>G (p.Gly770=) c.2280C>G (p.Gly760=) c.2238C>G (p.Gly746=) c.2145C>G (p.Gly715=) c.2157C>G (p.Gly719=) c.2268+19720C>G (n.2268+19720C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851434G= | CA2166352018 | OCA2 | c.2286C= (p.Gly762=) c.2214C= (p.Gly738=) c.2352C= (p.Gly784=) c.2328C= (p.Gly776=) c.2310C= (p.Gly770=) c.2280C= (p.Gly760=) c.2238C= (p.Gly746=) c.2145C= (p.Gly715=) c.2157C= (p.Gly719=) c.2268+19720C= (n.2268+19720C=) | |
15 | g.27851434G>T | CA488959082 | OCA2 | c.2286C>A (p.Gly762=) c.2214C>A (p.Gly738=) c.2352C>A (p.Gly784=) c.2328C>A (p.Gly776=) c.2310C>A (p.Gly770=) c.2280C>A (p.Gly760=) c.2238C>A (p.Gly746=) c.2145C>A (p.Gly715=) c.2157C>A (p.Gly719=) c.2268+19720C>A (n.2268+19720C>A) | |
15 | g.27851435C>A | CA391360112 | OCA2 | c.2285G>T (p.Gly762Val) c.2213G>T (p.Gly738Val) c.2351G>T (p.Gly784Val) c.2327G>T (p.Gly776Val) c.2309G>T (p.Gly770Val) c.2279G>T (p.Gly760Val) c.2237G>T (p.Gly746Val) c.2144G>T (p.Gly715Val) c.2156G>T (p.Gly719Val) c.2268+19719G>T (n.2268+19719G>T) | |
15 | g.27851435C= | CA2166352019 | OCA2 | c.2285G= (p.Gly762=) c.2213G= (p.Gly738=) c.2351G= (p.Gly784=) c.2327G= (p.Gly776=) c.2309G= (p.Gly770=) c.2279G= (p.Gly760=) c.2237G= (p.Gly746=) c.2144G= (p.Gly715=) c.2156G= (p.Gly719=) c.2268+19719G= (n.2268+19719G=) | |
15 | g.27851435C>G | CA391360114 | OCA2 | c.2285G>C (p.Gly762Ala) c.2213G>C (p.Gly738Ala) c.2351G>C (p.Gly784Ala) c.2327G>C (p.Gly776Ala) c.2309G>C (p.Gly770Ala) c.2279G>C (p.Gly760Ala) c.2237G>C (p.Gly746Ala) c.2144G>C (p.Gly715Ala) c.2156G>C (p.Gly719Ala) c.2268+19719G>C (n.2268+19719G>C) | |
15 | g.27851435C>T | CA391360115 | OCA2 | c.2285G>A (p.Gly762Asp) c.2213G>A (p.Gly738Asp) c.2351G>A (p.Gly784Asp) c.2327G>A (p.Gly776Asp) c.2309G>A (p.Gly770Asp) c.2279G>A (p.Gly760Asp) c.2237G>A (p.Gly746Asp) c.2144G>A (p.Gly715Asp) c.2156G>A (p.Gly719Asp) c.2268+19719G>A (n.2268+19719G>A) | dbSNP gnomAD v4 |
15 | g.27851436C>A | CA391360117 | OCA2 | c.2284G>T (p.Gly762Cys) c.2212G>T (p.Gly738Cys) c.2350G>T (p.Gly784Cys) c.2326G>T (p.Gly776Cys) c.2308G>T (p.Gly770Cys) c.2278G>T (p.Gly760Cys) c.2236G>T (p.Gly746Cys) c.2143G>T (p.Gly715Cys) c.2155G>T (p.Gly719Cys) c.2268+19718G>T (n.2268+19718G>T) | |
15 | g.27851436C= | CA2166352020 | OCA2 | c.2284G= (p.Gly762=) c.2212G= (p.Gly738=) c.2350G= (p.Gly784=) c.2326G= (p.Gly776=) c.2308G= (p.Gly770=) c.2278G= (p.Gly760=) c.2236G= (p.Gly746=) c.2143G= (p.Gly715=) c.2155G= (p.Gly719=) c.2268+19718G= (n.2268+19718G=) | |
15 | g.27851436C>G | CA391360119 | OCA2 | c.2284G>C (p.Gly762Arg) c.2212G>C (p.Gly738Arg) c.2350G>C (p.Gly784Arg) c.2326G>C (p.Gly776Arg) c.2308G>C (p.Gly770Arg) c.2278G>C (p.Gly760Arg) c.2236G>C (p.Gly746Arg) c.2143G>C (p.Gly715Arg) c.2155G>C (p.Gly719Arg) c.2268+19718G>C (n.2268+19718G>C) | |
15 | g.27851436C>T | CA391360120 | OCA2 | c.2284G>A (p.Gly762Ser) c.2212G>A (p.Gly738Ser) c.2350G>A (p.Gly784Ser) c.2326G>A (p.Gly776Ser) c.2308G>A (p.Gly770Ser) c.2278G>A (p.Gly760Ser) c.2236G>A (p.Gly746Ser) c.2143G>A (p.Gly715Ser) c.2155G>A (p.Gly719Ser) c.2268+19718G>A (n.2268+19718G>A) | dbSNP |
15 | g.27851437A>C | CA488959085 | OCA2 | c.2283T>G (p.Val761=) c.2211T>G (p.Val737=) c.2349T>G (p.Val783=) c.2325T>G (p.Val775=) c.2307T>G (p.Val769=) c.2277T>G (p.Val759=) c.2235T>G (p.Val745=) c.2142T>G (p.Val714=) c.2154T>G (p.Val718=) c.2268+19717T>G (n.2268+19717T>G) | |
15 | g.27851437A>G | CA488959086 | OCA2 | c.2283T>C (p.Val761=) c.2211T>C (p.Val737=) c.2349T>C (p.Val783=) c.2325T>C (p.Val775=) c.2307T>C (p.Val769=) c.2277T>C (p.Val759=) c.2235T>C (p.Val745=) c.2142T>C (p.Val714=) c.2154T>C (p.Val718=) c.2268+19717T>C (n.2268+19717T>C) | |
15 | g.27851437A>T | CA488959087 | OCA2 | c.2283T>A (p.Val761=) c.2211T>A (p.Val737=) c.2349T>A (p.Val783=) c.2325T>A (p.Val775=) c.2307T>A (p.Val769=) c.2277T>A (p.Val759=) c.2235T>A (p.Val745=) c.2142T>A (p.Val714=) c.2154T>A (p.Val718=) c.2268+19717T>A (n.2268+19717T>A) | |
15 | g.27851438A= | CA2166352021 | OCA2 | c.2282T= (p.Val761=) c.2210T= (p.Val737=) c.2348T= (p.Val783=) c.2324T= (p.Val775=) c.2306T= (p.Val769=) c.2276T= (p.Val759=) c.2234T= (p.Val745=) c.2141T= (p.Val714=) c.2153T= (p.Val718=) c.2268+19716T= (n.2268+19716T=) | |
15 | g.27851438A>C | CA391360121 | OCA2 | c.2282T>G (p.Val761Gly) c.2210T>G (p.Val737Gly) c.2348T>G (p.Val783Gly) c.2324T>G (p.Val775Gly) c.2306T>G (p.Val769Gly) c.2276T>G (p.Val759Gly) c.2234T>G (p.Val745Gly) c.2141T>G (p.Val714Gly) c.2153T>G (p.Val718Gly) c.2268+19716T>G (n.2268+19716T>G) | |
15 | g.27851438A>G | CA391360123 | OCA2 | c.2282T>C (p.Val761Ala) c.2210T>C (p.Val737Ala) c.2348T>C (p.Val783Ala) c.2324T>C (p.Val775Ala) c.2306T>C (p.Val769Ala) c.2276T>C (p.Val759Ala) c.2234T>C (p.Val745Ala) c.2141T>C (p.Val714Ala) c.2153T>C (p.Val718Ala) c.2268+19716T>C (n.2268+19716T>C) | ClinVar dbSNP |
15 | g.27851438A>T | CA7438658 | OCA2 | c.2282T>A (p.Val761Asp) c.2210T>A (p.Val737Asp) c.2348T>A (p.Val783Asp) c.2324T>A (p.Val775Asp) c.2306T>A (p.Val769Asp) c.2276T>A (p.Val759Asp) c.2234T>A (p.Val745Asp) c.2141T>A (p.Val714Asp) c.2153T>A (p.Val718Asp) c.2268+19716T>A (n.2268+19716T>A) | dbSNP ExAC gnomAD v2 |
15 | g.27851439C>A | CA391360124 | OCA2 | c.2281G>T (p.Val761Phe) c.2209G>T (p.Val737Phe) c.2347G>T (p.Val783Phe) c.2323G>T (p.Val775Phe) c.2305G>T (p.Val769Phe) c.2275G>T (p.Val759Phe) c.2233G>T (p.Val745Phe) c.2140G>T (p.Val714Phe) c.2152G>T (p.Val718Phe) c.2268+19715G>T (n.2268+19715G>T) | |
15 | g.27851439C>G | CA391360126 | OCA2 | c.2281G>C (p.Val761Leu) c.2209G>C (p.Val737Leu) c.2347G>C (p.Val783Leu) c.2323G>C (p.Val775Leu) c.2305G>C (p.Val769Leu) c.2275G>C (p.Val759Leu) c.2233G>C (p.Val745Leu) c.2140G>C (p.Val714Leu) c.2152G>C (p.Val718Leu) c.2268+19715G>C (n.2268+19715G>C) | gnomAD v4 |
15 | g.27851439C>T | CA391360127 | OCA2 | c.2281G>A (p.Val761Ile) c.2209G>A (p.Val737Ile) c.2347G>A (p.Val783Ile) c.2323G>A (p.Val775Ile) c.2305G>A (p.Val769Ile) c.2275G>A (p.Val759Ile) c.2233G>A (p.Val745Ile) c.2140G>A (p.Val714Ile) c.2152G>A (p.Val718Ile) c.2268+19715G>A (n.2268+19715G>A) | |
15 | g.27851440C>A | CA391360129 | OCA2 | c.2280G>T (p.Glu760Asp) c.2208G>T (p.Glu736Asp) c.2346G>T (p.Glu782Asp) c.2322G>T (p.Glu774Asp) c.2304G>T (p.Glu768Asp) c.2274G>T (p.Glu758Asp) c.2232G>T (p.Glu744Asp) c.2139G>T (p.Glu713Asp) c.2151G>T (p.Glu717Asp) c.2268+19714G>T (n.2268+19714G>T) | |
15 | g.27851440C>G | CA391360128 | OCA2 | c.2280G>C (p.Glu760Asp) c.2208G>C (p.Glu736Asp) c.2346G>C (p.Glu782Asp) c.2322G>C (p.Glu774Asp) c.2304G>C (p.Glu768Asp) c.2274G>C (p.Glu758Asp) c.2232G>C (p.Glu744Asp) c.2139G>C (p.Glu713Asp) c.2151G>C (p.Glu717Asp) c.2268+19714G>C (n.2268+19714G>C) | |
15 | g.27851440C>T | CA488959088 | OCA2 | c.2280G>A (p.Glu760=) c.2208G>A (p.Glu736=) c.2346G>A (p.Glu782=) c.2322G>A (p.Glu774=) c.2304G>A (p.Glu768=) c.2274G>A (p.Glu758=) c.2232G>A (p.Glu744=) c.2139G>A (p.Glu713=) c.2151G>A (p.Glu717=) c.2268+19714G>A (n.2268+19714G>A) | ClinVar |
15 | g.27851441T>A | CA7438659 | OCA2 | c.2279A>T (p.Glu760Val) c.2207A>T (p.Glu736Val) c.2345A>T (p.Glu782Val) c.2321A>T (p.Glu774Val) c.2303A>T (p.Glu768Val) c.2273A>T (p.Glu758Val) c.2231A>T (p.Glu744Val) c.2138A>T (p.Glu713Val) c.2150A>T (p.Glu717Val) c.2268+19713A>T (n.2268+19713A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.27851441T>C | CA391360136 | OCA2 | c.2279A>G (p.Glu760Gly) c.2207A>G (p.Glu736Gly) c.2345A>G (p.Glu782Gly) c.2321A>G (p.Glu774Gly) c.2303A>G (p.Glu768Gly) c.2273A>G (p.Glu758Gly) c.2231A>G (p.Glu744Gly) c.2138A>G (p.Glu713Gly) c.2150A>G (p.Glu717Gly) c.2268+19713A>G (n.2268+19713A>G) | |
15 | g.27851441T>G | CA391360137 | OCA2 | c.2279A>C (p.Glu760Ala) c.2207A>C (p.Glu736Ala) c.2345A>C (p.Glu782Ala) c.2321A>C (p.Glu774Ala) c.2303A>C (p.Glu768Ala) c.2273A>C (p.Glu758Ala) c.2231A>C (p.Glu744Ala) c.2138A>C (p.Glu713Ala) c.2150A>C (p.Glu717Ala) c.2268+19713A>C (n.2268+19713A>C) | |
15 | g.27851441T= | CA2166352022 | OCA2 | c.2279A= (p.Glu760=) c.2207A= (p.Glu736=) c.2345A= (p.Glu782=) c.2321A= (p.Glu774=) c.2303A= (p.Glu768=) c.2273A= (p.Glu758=) c.2231A= (p.Glu744=) c.2138A= (p.Glu713=) c.2150A= (p.Glu717=) c.2268+19713A= (n.2268+19713A=) | |
15 | g.27851442C>A | CA391360138 | OCA2 | c.2278G>T (p.Glu760Ter) c.2206G>T (p.Glu736Ter) c.2344G>T (p.Glu782Ter) c.2320G>T (p.Glu774Ter) c.2302G>T (p.Glu768Ter) c.2272G>T (p.Glu758Ter) c.2230G>T (p.Glu744Ter) c.2137G>T (p.Glu713Ter) c.2149G>T (p.Glu717Ter) c.2268+19712G>T (n.2268+19712G>T) | |
15 | g.27851442C>G | CA391360139 | OCA2 | c.2278G>C (p.Glu760Gln) c.2206G>C (p.Glu736Gln) c.2344G>C (p.Glu782Gln) c.2320G>C (p.Glu774Gln) c.2302G>C (p.Glu768Gln) c.2272G>C (p.Glu758Gln) c.2230G>C (p.Glu744Gln) c.2137G>C (p.Glu713Gln) c.2149G>C (p.Glu717Gln) c.2268+19712G>C (n.2268+19712G>C) | |
15 | g.27851442C>T | CA391360142 | OCA2 | c.2278G>A (p.Glu760Lys) c.2206G>A (p.Glu736Lys) c.2344G>A (p.Glu782Lys) c.2320G>A (p.Glu774Lys) c.2302G>A (p.Glu768Lys) c.2272G>A (p.Glu758Lys) c.2230G>A (p.Glu744Lys) c.2137G>A (p.Glu713Lys) c.2149G>A (p.Glu717Lys) c.2268+19712G>A (n.2268+19712G>A) | ClinVar |
15 | g.27851443A= | CA2166352023 | OCA2 | c.2277T= (p.Pro759=) c.2205T= (p.Pro735=) c.2343T= (p.Pro781=) c.2319T= (p.Pro773=) c.2301T= (p.Pro767=) c.2271T= (p.Pro757=) c.2229T= (p.Pro743=) c.2136T= (p.Pro712=) c.2148T= (p.Pro716=) c.2268+19711T= (n.2268+19711T=) | |
15 | g.27851443A>C | CA488959091 | OCA2 | c.2277T>G (p.Pro759=) c.2205T>G (p.Pro735=) c.2343T>G (p.Pro781=) c.2319T>G (p.Pro773=) c.2301T>G (p.Pro767=) c.2271T>G (p.Pro757=) c.2229T>G (p.Pro743=) c.2136T>G (p.Pro712=) c.2148T>G (p.Pro716=) c.2268+19711T>G (n.2268+19711T>G) | dbSNP |
15 | g.27851443A>G | CA488959092 | OCA2 | c.2277T>C (p.Pro759=) c.2205T>C (p.Pro735=) c.2343T>C (p.Pro781=) c.2319T>C (p.Pro773=) c.2301T>C (p.Pro767=) c.2271T>C (p.Pro757=) c.2229T>C (p.Pro743=) c.2136T>C (p.Pro712=) c.2148T>C (p.Pro716=) c.2268+19711T>C (n.2268+19711T>C) | |
15 | g.27851443A>T | CA488959093 | OCA2 | c.2277T>A (p.Pro759=) c.2205T>A (p.Pro735=) c.2343T>A (p.Pro781=) c.2319T>A (p.Pro773=) c.2301T>A (p.Pro767=) c.2271T>A (p.Pro757=) c.2229T>A (p.Pro743=) c.2136T>A (p.Pro712=) c.2148T>A (p.Pro716=) c.2268+19711T>A (n.2268+19711T>A) | |
15 | g.27851444G>A | CA391360144 | OCA2 | c.2276C>T (p.Pro759Leu) c.2204C>T (p.Pro735Leu) c.2342C>T (p.Pro781Leu) c.2318C>T (p.Pro773Leu) c.2300C>T (p.Pro767Leu) c.2270C>T (p.Pro757Leu) c.2228C>T (p.Pro743Leu) c.2135C>T (p.Pro712Leu) c.2147C>T (p.Pro716Leu) c.2268+19710C>T (n.2268+19710C>T) | gnomAD v4 |
15 | g.27851444G>C | CA391360147 | OCA2 | c.2276C>G (p.Pro759Arg) c.2204C>G (p.Pro735Arg) c.2342C>G (p.Pro781Arg) c.2318C>G (p.Pro773Arg) c.2300C>G (p.Pro767Arg) c.2270C>G (p.Pro757Arg) c.2228C>G (p.Pro743Arg) c.2135C>G (p.Pro712Arg) c.2147C>G (p.Pro716Arg) c.2268+19710C>G (n.2268+19710C>G) | |
15 | g.27851444G>T | CA391360149 | OCA2 | c.2276C>A (p.Pro759His) c.2204C>A (p.Pro735His) c.2342C>A (p.Pro781His) c.2318C>A (p.Pro773His) c.2300C>A (p.Pro767His) c.2270C>A (p.Pro757His) c.2228C>A (p.Pro743His) c.2135C>A (p.Pro712His) c.2147C>A (p.Pro716His) c.2268+19710C>A (n.2268+19710C>A) | |
15 | g.27851445G>A | CA7438660 | OCA2 | c.2275C>T (p.Pro759Ser) c.2203C>T (p.Pro735Ser) c.2341C>T (p.Pro781Ser) c.2317C>T (p.Pro773Ser) c.2299C>T (p.Pro767Ser) c.2269C>T (p.Pro757Ser) c.2227C>T (p.Pro743Ser) c.2134C>T (p.Pro712Ser) c.2146C>T (p.Pro716Ser) c.2268+19709C>T (n.2268+19709C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851445G>C | CA391360152 | OCA2 | c.2275C>G (p.Pro759Ala) c.2203C>G (p.Pro735Ala) c.2341C>G (p.Pro781Ala) c.2317C>G (p.Pro773Ala) c.2299C>G (p.Pro767Ala) c.2269C>G (p.Pro757Ala) c.2227C>G (p.Pro743Ala) c.2134C>G (p.Pro712Ala) c.2146C>G (p.Pro716Ala) c.2268+19709C>G (n.2268+19709C>G) | |
15 | g.27851445G= | CA2166352024 | OCA2 | c.2275C= (p.Pro759=) c.2203C= (p.Pro735=) c.2341C= (p.Pro781=) c.2317C= (p.Pro773=) c.2299C= (p.Pro767=) c.2269C= (p.Pro757=) c.2227C= (p.Pro743=) c.2134C= (p.Pro712=) c.2146C= (p.Pro716=) c.2268+19709C= (n.2268+19709C=) | |
15 | g.27851445G>T | CA391360154 | OCA2 | c.2275C>A (p.Pro759Thr) c.2203C>A (p.Pro735Thr) c.2341C>A (p.Pro781Thr) c.2317C>A (p.Pro773Thr) c.2299C>A (p.Pro767Thr) c.2269C>A (p.Pro757Thr) c.2227C>A (p.Pro743Thr) c.2134C>A (p.Pro712Thr) c.2146C>A (p.Pro716Thr) c.2268+19709C>A (n.2268+19709C>A) | |
15 | g.27851446G>A | CA488959095 | OCA2 | c.2274C>T (p.Asp758=) c.2202C>T (p.Asp734=) c.2340C>T (p.Asp780=) c.2316C>T (p.Asp772=) c.2298C>T (p.Asp766=) c.2268C>T (p.Asp756=) c.2226C>T (p.Asp742=) c.2133C>T (p.Asp711=) c.2145C>T (p.Asp715=) c.2268+19708C>T (n.2268+19708C>T) | dbSNP gnomAD v2 |
15 | g.27851446G>C | CA391360155 | OCA2 | c.2274C>G (p.Asp758Glu) c.2202C>G (p.Asp734Glu) c.2340C>G (p.Asp780Glu) c.2316C>G (p.Asp772Glu) c.2298C>G (p.Asp766Glu) c.2268C>G (p.Asp756Glu) c.2226C>G (p.Asp742Glu) c.2133C>G (p.Asp711Glu) c.2145C>G (p.Asp715Glu) c.2268+19708C>G (n.2268+19708C>G) | |
15 | g.27851446G= | CA2166352025 | OCA2 | c.2274C= (p.Asp758=) c.2202C= (p.Asp734=) c.2340C= (p.Asp780=) c.2316C= (p.Asp772=) c.2298C= (p.Asp766=) c.2268C= (p.Asp756=) c.2226C= (p.Asp742=) c.2133C= (p.Asp711=) c.2145C= (p.Asp715=) c.2268+19708C= (n.2268+19708C=) | |
15 | g.27851446G>T | CA391360156 | OCA2 | c.2274C>A (p.Asp758Glu) c.2202C>A (p.Asp734Glu) c.2340C>A (p.Asp780Glu) c.2316C>A (p.Asp772Glu) c.2298C>A (p.Asp766Glu) c.2268C>A (p.Asp756Glu) c.2226C>A (p.Asp742Glu) c.2133C>A (p.Asp711Glu) c.2145C>A (p.Asp715Glu) c.2268+19708C>A (n.2268+19708C>A) | dbSNP |
15 | g.27851447T>A | CA7438661 | OCA2 | c.2273A>T (p.Asp758Val) c.2201A>T (p.Asp734Val) c.2339A>T (p.Asp780Val) c.2315A>T (p.Asp772Val) c.2297A>T (p.Asp766Val) c.2267A>T (p.Asp756Val) c.2225A>T (p.Asp742Val) c.2132A>T (p.Asp711Val) c.2144A>T (p.Asp715Val) c.2268+19707A>T (n.2268+19707A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851447T>C | CA242136 | OCA2 | c.2273A>G (p.Asp758Gly) c.2201A>G (p.Asp734Gly) c.2339A>G (p.Asp780Gly) c.2315A>G (p.Asp772Gly) c.2297A>G (p.Asp766Gly) c.2267A>G (p.Asp756Gly) c.2225A>G (p.Asp742Gly) c.2132A>G (p.Asp711Gly) c.2144A>G (p.Asp715Gly) c.2268+19707A>G (n.2268+19707A>G) | ClinVar dbSNP gnomAD v4 |
15 | g.27851447T>G | CA391360159 | OCA2 | c.2273A>C (p.Asp758Ala) c.2201A>C (p.Asp734Ala) c.2339A>C (p.Asp780Ala) c.2315A>C (p.Asp772Ala) c.2297A>C (p.Asp766Ala) c.2267A>C (p.Asp756Ala) c.2225A>C (p.Asp742Ala) c.2132A>C (p.Asp711Ala) c.2144A>C (p.Asp715Ala) c.2268+19707A>C (n.2268+19707A>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.27851447T= | CA2166352026 | OCA2 | c.2273A= (p.Asp758=) c.2201A= (p.Asp734=) c.2339A= (p.Asp780=) c.2315A= (p.Asp772=) c.2297A= (p.Asp766=) c.2267A= (p.Asp756=) c.2225A= (p.Asp742=) c.2132A= (p.Asp711=) c.2144A= (p.Asp715=) c.2268+19707A= (n.2268+19707A=) | |
15 | g.27851448C>A | CA391360162 | OCA2 | c.2272G>T (p.Asp758Tyr) c.2200G>T (p.Asp734Tyr) c.2338G>T (p.Asp780Tyr) c.2314G>T (p.Asp772Tyr) c.2296G>T (p.Asp766Tyr) c.2266G>T (p.Asp756Tyr) c.2224G>T (p.Asp742Tyr) c.2131G>T (p.Asp711Tyr) c.2143G>T (p.Asp715Tyr) c.2268+19706G>T (n.2268+19706G>T) | |
15 | g.27851448C= | CA2166352027 | OCA2 | c.2272G= (p.Asp758=) c.2200G= (p.Asp734=) c.2338G= (p.Asp780=) c.2314G= (p.Asp772=) c.2296G= (p.Asp766=) c.2266G= (p.Asp756=) c.2224G= (p.Asp742=) c.2131G= (p.Asp711=) c.2143G= (p.Asp715=) c.2268+19706G= (n.2268+19706G=) | |
15 | g.27851448C>G | CA391360164 | OCA2 | c.2272G>C (p.Asp758His) c.2200G>C (p.Asp734His) c.2338G>C (p.Asp780His) c.2314G>C (p.Asp772His) c.2296G>C (p.Asp766His) c.2266G>C (p.Asp756His) c.2224G>C (p.Asp742His) c.2131G>C (p.Asp711His) c.2143G>C (p.Asp715His) c.2268+19706G>C (n.2268+19706G>C) | |
15 | g.27851448C>T | CA7438662 | OCA2 | c.2272G>A (p.Asp758Asn) c.2200G>A (p.Asp734Asn) c.2338G>A (p.Asp780Asn) c.2314G>A (p.Asp772Asn) c.2296G>A (p.Asp766Asn) c.2266G>A (p.Asp756Asn) c.2224G>A (p.Asp742Asn) c.2131G>A (p.Asp711Asn) c.2143G>A (p.Asp715Asn) c.2268+19706G>A (n.2268+19706G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851449G>A | CA7438663 | OCA2 | c.2271C>T (p.His757=) c.2199C>T (p.His733=) c.2337C>T (p.His779=) c.2313C>T (p.His771=) c.2295C>T (p.His765=) c.2265C>T (p.His755=) c.2223C>T (p.His741=) c.2130C>T (p.His710=) c.2142C>T (p.His714=) c.2268+19705C>T (n.2268+19705C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.27851449G>C | CA267845212 | OCA2 | c.2271C>G (p.His757Gln) c.2199C>G (p.His733Gln) c.2337C>G (p.His779Gln) c.2313C>G (p.His771Gln) c.2295C>G (p.His765Gln) c.2265C>G (p.His755Gln) c.2223C>G (p.His741Gln) c.2130C>G (p.His710Gln) c.2142C>G (p.His714Gln) c.2268+19705C>G (n.2268+19705C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851449G= | CA2166352028 | OCA2 | c.2271C= (p.His757=) c.2199C= (p.His733=) c.2337C= (p.His779=) c.2313C= (p.His771=) c.2295C= (p.His765=) c.2265C= (p.His755=) c.2223C= (p.His741=) c.2130C= (p.His710=) c.2142C= (p.His714=) c.2268+19705C= (n.2268+19705C=) | |
15 | g.27851449G>T | CA391360170 | OCA2 | c.2271C>A (p.His757Gln) c.2199C>A (p.His733Gln) c.2337C>A (p.His779Gln) c.2313C>A (p.His771Gln) c.2295C>A (p.His765Gln) c.2265C>A (p.His755Gln) c.2223C>A (p.His741Gln) c.2130C>A (p.His710Gln) c.2142C>A (p.His714Gln) c.2268+19705C>A (n.2268+19705C>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.27851450T>A | CA391360172 | OCA2 | c.2270A>T (p.His757Leu) c.2198A>T (p.His733Leu) c.2336A>T (p.His779Leu) c.2312A>T (p.His771Leu) c.2294A>T (p.His765Leu) c.2264A>T (p.His755Leu) c.2222A>T (p.His741Leu) c.2129A>T (p.His710Leu) c.2141A>T (p.His714Leu) c.2268+19704A>T (n.2268+19704A>T) | |
15 | g.27851450T>C | CA7438664 | OCA2 | c.2270A>G (p.His757Arg) c.2198A>G (p.His733Arg) c.2336A>G (p.His779Arg) c.2312A>G (p.His771Arg) c.2294A>G (p.His765Arg) c.2264A>G (p.His755Arg) c.2222A>G (p.His741Arg) c.2129A>G (p.His710Arg) c.2141A>G (p.His714Arg) c.2268+19704A>G (n.2268+19704A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27851450T>G | CA391360176 | OCA2 | c.2270A>C (p.His757Pro) c.2198A>C (p.His733Pro) c.2336A>C (p.His779Pro) c.2312A>C (p.His771Pro) c.2294A>C (p.His765Pro) c.2264A>C (p.His755Pro) c.2222A>C (p.His741Pro) c.2129A>C (p.His710Pro) c.2141A>C (p.His714Pro) c.2268+19704A>C (n.2268+19704A>C) | |
15 | g.27851450T= | CA2166352029 | OCA2 | c.2270A= (p.His757=) c.2198A= (p.His733=) c.2336A= (p.His779=) c.2312A= (p.His771=) c.2294A= (p.His765=) c.2264A= (p.His755=) c.2222A= (p.His741=) c.2129A= (p.His710=) c.2141A= (p.His714=) c.2268+19704A= (n.2268+19704A=) | |
15 | g.27851451G>A | CA391360185 | OCA2 | c.2269C>T (p.His757Tyr) c.2197C>T (p.His733Tyr) c.2335C>T (p.His779Tyr) c.2311C>T (p.His771Tyr) c.2293C>T (p.His765Tyr) c.2263C>T (p.His755Tyr) c.2221C>T (p.His741Tyr) c.2128C>T (p.His710Tyr) c.2140C>T (p.His714Tyr) c.2268+19703C>T (n.2268+19703C>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27851451G>C | CA391360183 | OCA2 | c.2269C>G (p.His757Asp) c.2197C>G (p.His733Asp) c.2335C>G (p.His779Asp) c.2311C>G (p.His771Asp) c.2293C>G (p.His765Asp) c.2263C>G (p.His755Asp) c.2221C>G (p.His741Asp) c.2128C>G (p.His710Asp) c.2140C>G (p.His714Asp) c.2268+19703C>G (n.2268+19703C>G) | |
15 | g.27851451G= | CA2166352030 | OCA2 | c.2269C= (p.His757=) c.2197C= (p.His733=) c.2335C= (p.His779=) c.2311C= (p.His771=) c.2293C= (p.His765=) c.2263C= (p.His755=) c.2221C= (p.His741=) c.2128C= (p.His710=) c.2140C= (p.His714=) c.2268+19703C= (n.2268+19703C=) | |
15 | g.27851451G>T | CA391360179 | OCA2 | c.2269C>A (p.His757Asn) c.2197C>A (p.His733Asn) c.2335C>A (p.His779Asn) c.2311C>A (p.His771Asn) c.2293C>A (p.His765Asn) c.2263C>A (p.His755Asn) c.2221C>A (p.His741Asn) c.2128C>A (p.His710Asn) c.2140C>A (p.His714Asn) c.2268+19703C>A (n.2268+19703C>A) | |
15 | g.27851452G>A | CA488959099 | OCA2 | c.2268C>T (p.Ser756=) c.2196C>T (p.Ser732=) c.2334C>T (p.Ser778=) c.2310C>T (p.Ser770=) c.2292C>T (p.Ser764=) c.2262C>T (p.Ser754=) c.2220C>T (p.Ser740=) c.2127C>T (p.Ser709=) c.2139C>T (p.Ser713=) c.2268+19702C>T (n.2268+19702C>T) | |
15 | g.27851452G>C | CA391360187 | OCA2 | c.2268C>G (p.Ser756Arg) c.2196C>G (p.Ser732Arg) c.2334C>G (p.Ser778Arg) c.2310C>G (p.Ser770Arg) c.2292C>G (p.Ser764Arg) c.2262C>G (p.Ser754Arg) c.2220C>G (p.Ser740Arg) c.2127C>G (p.Ser709Arg) c.2139C>G (p.Ser713Arg) c.2268+19702C>G (n.2268+19702C>G) | gnomAD v4 |
15 | g.27851452G>T | CA391360189 | OCA2 | c.2268C>A (p.Ser756Arg) c.2196C>A (p.Ser732Arg) c.2334C>A (p.Ser778Arg) c.2310C>A (p.Ser770Arg) c.2292C>A (p.Ser764Arg) c.2262C>A (p.Ser754Arg) c.2220C>A (p.Ser740Arg) c.2127C>A (p.Ser709Arg) c.2139C>A (p.Ser713Arg) c.2268+19702C>A (n.2268+19702C>A) | |
15 | g.27851453_27851457del | CA2627378294 | OCA2 | c.2264_2268del (p.Leu755ProfsTer4) c.2192_2196del (p.Leu731ProfsTer4) c.2330_2334del (p.Leu777ProfsTer4) c.2306_2310del (p.Leu769ProfsTer4) c.2288_2292del (p.Leu763ProfsTer4) c.2258_2262del (p.Leu753ProfsTer4) c.2216_2220del (p.Leu739ProfsTer4) c.2123_2127del (p.Leu708ProfsTer4) c.2135_2139del (p.Leu712ProfsTer4) c.2268+19698_2268+19702del (n.2268+19698_2268+19702del) | gnomAD v4 |
15 | g.27851453C>A | CA391360192 | OCA2 | c.2267G>T (p.Ser756Ile) c.2195G>T (p.Ser732Ile) c.2333G>T (p.Ser778Ile) c.2309G>T (p.Ser770Ile) c.2291G>T (p.Ser764Ile) c.2261G>T (p.Ser754Ile) c.2219G>T (p.Ser740Ile) c.2126G>T (p.Ser709Ile) c.2138G>T (p.Ser713Ile) c.2268+19701G>T (n.2268+19701G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.27851453C= | CA2166352031 | OCA2 | c.2267G= (p.Ser756=) c.2195G= (p.Ser732=) c.2333G= (p.Ser778=) c.2309G= (p.Ser770=) c.2291G= (p.Ser764=) c.2261G= (p.Ser754=) c.2219G= (p.Ser740=) c.2126G= (p.Ser709=) c.2138G= (p.Ser713=) c.2268+19701G= (n.2268+19701G=) | |
15 | g.27851453C>G | CA391360193 | OCA2 | c.2267G>C (p.Ser756Thr) c.2195G>C (p.Ser732Thr) c.2333G>C (p.Ser778Thr) c.2309G>C (p.Ser770Thr) c.2291G>C (p.Ser764Thr) c.2261G>C (p.Ser754Thr) c.2219G>C (p.Ser740Thr) c.2126G>C (p.Ser709Thr) c.2138G>C (p.Ser713Thr) c.2268+19701G>C (n.2268+19701G>C) | |
15 | g.27851453C>T | CA391360196 | OCA2 | c.2267G>A (p.Ser756Asn) c.2195G>A (p.Ser732Asn) c.2333G>A (p.Ser778Asn) c.2309G>A (p.Ser770Asn) c.2291G>A (p.Ser764Asn) c.2261G>A (p.Ser754Asn) c.2219G>A (p.Ser740Asn) c.2126G>A (p.Ser709Asn) c.2138G>A (p.Ser713Asn) c.2268+19701G>A (n.2268+19701G>A) | |
15 | g.27851454T>A | CA391360199 | OCA2 | c.2266A>T (p.Ser756Cys) c.2194A>T (p.Ser732Cys) c.2332A>T (p.Ser778Cys) c.2308A>T (p.Ser770Cys) c.2290A>T (p.Ser764Cys) c.2260A>T (p.Ser754Cys) c.2218A>T (p.Ser740Cys) c.2125A>T (p.Ser709Cys) c.2137A>T (p.Ser713Cys) c.2268+19700A>T (n.2268+19700A>T) | |
15 | g.27851454T>C | CA391360201 | OCA2 | c.2266A>G (p.Ser756Gly) c.2194A>G (p.Ser732Gly) c.2332A>G (p.Ser778Gly) c.2308A>G (p.Ser770Gly) c.2290A>G (p.Ser764Gly) c.2260A>G (p.Ser754Gly) c.2218A>G (p.Ser740Gly) c.2125A>G (p.Ser709Gly) c.2137A>G (p.Ser713Gly) c.2268+19700A>G (n.2268+19700A>G) | |
15 | g.27851454T>G | CA391360202 | OCA2 | c.2266A>C (p.Ser756Arg) c.2194A>C (p.Ser732Arg) c.2332A>C (p.Ser778Arg) c.2308A>C (p.Ser770Arg) c.2290A>C (p.Ser764Arg) c.2260A>C (p.Ser754Arg) c.2218A>C (p.Ser740Arg) c.2125A>C (p.Ser709Arg) c.2137A>C (p.Ser713Arg) c.2268+19700A>C (n.2268+19700A>C) | |
15 | g.27851455C>A | CA488959100 | OCA2 | c.2265G>T (p.Leu755=) c.2193G>T (p.Leu731=) c.2331G>T (p.Leu777=) c.2307G>T (p.Leu769=) c.2289G>T (p.Leu763=) c.2259G>T (p.Leu753=) c.2217G>T (p.Leu739=) c.2124G>T (p.Leu708=) c.2136G>T (p.Leu712=) c.2268+19699G>T (n.2268+19699G>T) | |
15 | g.27851455C>G | CA488959103 | OCA2 | c.2265G>C (p.Leu755=) c.2193G>C (p.Leu731=) c.2331G>C (p.Leu777=) c.2307G>C (p.Leu769=) c.2289G>C (p.Leu763=) c.2259G>C (p.Leu753=) c.2217G>C (p.Leu739=) c.2124G>C (p.Leu708=) c.2136G>C (p.Leu712=) c.2268+19699G>C (n.2268+19699G>C) | |
15 | g.27851455C>T | CA488959101 | OCA2 | c.2265G>A (p.Leu755=) c.2193G>A (p.Leu731=) c.2331G>A (p.Leu777=) c.2307G>A (p.Leu769=) c.2289G>A (p.Leu763=) c.2259G>A (p.Leu753=) c.2217G>A (p.Leu739=) c.2124G>A (p.Leu708=) c.2136G>A (p.Leu712=) c.2268+19699G>A (n.2268+19699G>A) | |
15 | g.27851456A>C | CA391360204 | OCA2 | c.2264T>G (p.Leu755Arg) c.2192T>G (p.Leu731Arg) c.2330T>G (p.Leu777Arg) c.2306T>G (p.Leu769Arg) c.2288T>G (p.Leu763Arg) c.2258T>G (p.Leu753Arg) c.2216T>G (p.Leu739Arg) c.2123T>G (p.Leu708Arg) c.2135T>G (p.Leu712Arg) c.2268+19698T>G (n.2268+19698T>G) | gnomAD v4 |
15 | g.27851456A>G | CA391360206 | OCA2 | c.2264T>C (p.Leu755Pro) c.2192T>C (p.Leu731Pro) c.2330T>C (p.Leu777Pro) c.2306T>C (p.Leu769Pro) c.2288T>C (p.Leu763Pro) c.2258T>C (p.Leu753Pro) c.2216T>C (p.Leu739Pro) c.2123T>C (p.Leu708Pro) c.2135T>C (p.Leu712Pro) c.2268+19698T>C (n.2268+19698T>C) | |
15 | g.27851456A>T | CA391360207 | OCA2 | c.2264T>A (p.Leu755Gln) c.2192T>A (p.Leu731Gln) c.2330T>A (p.Leu777Gln) c.2306T>A (p.Leu769Gln) c.2288T>A (p.Leu763Gln) c.2258T>A (p.Leu753Gln) c.2216T>A (p.Leu739Gln) c.2123T>A (p.Leu708Gln) c.2135T>A (p.Leu712Gln) c.2268+19698T>A (n.2268+19698T>A) | |
15 | g.27851457G>A | CA488959104 | OCA2 | c.2263C>T (p.Leu755=) c.2191C>T (p.Leu731=) c.2329C>T (p.Leu777=) c.2305C>T (p.Leu769=) c.2287C>T (p.Leu763=) c.2257C>T (p.Leu753=) c.2215C>T (p.Leu739=) c.2122C>T (p.Leu708=) c.2134C>T (p.Leu712=) c.2268+19697C>T (n.2268+19697C>T) | |
15 | g.27851457G>C | CA391360210 | OCA2 | c.2263C>G (p.Leu755Val) c.2191C>G (p.Leu731Val) c.2329C>G (p.Leu777Val) c.2305C>G (p.Leu769Val) c.2287C>G (p.Leu763Val) c.2257C>G (p.Leu753Val) c.2215C>G (p.Leu739Val) c.2122C>G (p.Leu708Val) c.2134C>G (p.Leu712Val) c.2268+19697C>G (n.2268+19697C>G) | gnomAD v4 |
15 | g.27851457G>T | CA391360212 | OCA2 | c.2263C>A (p.Leu755Met) c.2191C>A (p.Leu731Met) c.2329C>A (p.Leu777Met) c.2305C>A (p.Leu769Met) c.2287C>A (p.Leu763Met) c.2257C>A (p.Leu753Met) c.2215C>A (p.Leu739Met) c.2122C>A (p.Leu708Met) c.2134C>A (p.Leu712Met) c.2268+19697C>A (n.2268+19697C>A) | |
15 | g.27851458G>A | CA488959105 | OCA2 | c.2262C>T (p.Asn754=) c.2190C>T (p.Asn730=) c.2328C>T (p.Asn776=) c.2304C>T (p.Asn768=) c.2286C>T (p.Asn762=) c.2256C>T (p.Asn752=) c.2214C>T (p.Asn738=) c.2121C>T (p.Asn707=) c.2133C>T (p.Asn711=) c.2268+19696C>T (n.2268+19696C>T) | |
15 | g.27851458G>C | CA391360215 | OCA2 | c.2262C>G (p.Asn754Lys) c.2190C>G (p.Asn730Lys) c.2328C>G (p.Asn776Lys) c.2304C>G (p.Asn768Lys) c.2286C>G (p.Asn762Lys) c.2256C>G (p.Asn752Lys) c.2214C>G (p.Asn738Lys) c.2121C>G (p.Asn707Lys) c.2133C>G (p.Asn711Lys) c.2268+19696C>G (n.2268+19696C>G) | COSMIC |
15 | g.27851458G>T | CA391360214 | OCA2 | c.2262C>A (p.Asn754Lys) c.2190C>A (p.Asn730Lys) c.2328C>A (p.Asn776Lys) c.2304C>A (p.Asn768Lys) c.2286C>A (p.Asn762Lys) c.2256C>A (p.Asn752Lys) c.2214C>A (p.Asn738Lys) c.2121C>A (p.Asn707Lys) c.2133C>A (p.Asn711Lys) c.2268+19696C>A (n.2268+19696C>A) | COSMIC |
15 | g.27851459T>A | CA391360217 | OCA2 | c.2261A>T (p.Asn754Ile) c.2189A>T (p.Asn730Ile) c.2327A>T (p.Asn776Ile) c.2303A>T (p.Asn768Ile) c.2285A>T (p.Asn762Ile) c.2255A>T (p.Asn752Ile) c.2213A>T (p.Asn738Ile) c.2120A>T (p.Asn707Ile) c.2132A>T (p.Asn711Ile) c.2268+19695A>T (n.2268+19695A>T) | |
15 | g.27851459T>C | CA391360221 | OCA2 | c.2261A>G (p.Asn754Ser) c.2189A>G (p.Asn730Ser) c.2327A>G (p.Asn776Ser) c.2303A>G (p.Asn768Ser) c.2285A>G (p.Asn762Ser) c.2255A>G (p.Asn752Ser) c.2213A>G (p.Asn738Ser) c.2120A>G (p.Asn707Ser) c.2132A>G (p.Asn711Ser) c.2268+19695A>G (n.2268+19695A>G) | |
15 | g.27851459T>G | CA391360219 | OCA2 | c.2261A>C (p.Asn754Thr) c.2189A>C (p.Asn730Thr) c.2327A>C (p.Asn776Thr) c.2303A>C (p.Asn768Thr) c.2285A>C (p.Asn762Thr) c.2255A>C (p.Asn752Thr) c.2213A>C (p.Asn738Thr) c.2120A>C (p.Asn707Thr) c.2132A>C (p.Asn711Thr) c.2268+19695A>C (n.2268+19695A>C) | dbSNP |
15 | g.27851459T= | CA2166352032 | OCA2 | c.2261A= (p.Asn754=) c.2189A= (p.Asn730=) c.2327A= (p.Asn776=) c.2303A= (p.Asn768=) c.2285A= (p.Asn762=) c.2255A= (p.Asn752=) c.2213A= (p.Asn738=) c.2120A= (p.Asn707=) c.2132A= (p.Asn711=) c.2268+19695A= (n.2268+19695A=) | |
15 | g.27851460T>A | CA391360223 | OCA2 | c.2260A>T (p.Asn754Tyr) c.2188A>T (p.Asn730Tyr) c.2326A>T (p.Asn776Tyr) c.2302A>T (p.Asn768Tyr) c.2284A>T (p.Asn762Tyr) c.2254A>T (p.Asn752Tyr) c.2212A>T (p.Asn738Tyr) c.2119A>T (p.Asn707Tyr) c.2131A>T (p.Asn711Tyr) c.2268+19694A>T (n.2268+19694A>T) | |
15 | g.27851460T>C | CA391360226 | OCA2 | c.2260A>G (p.Asn754Asp) c.2188A>G (p.Asn730Asp) c.2326A>G (p.Asn776Asp) c.2302A>G (p.Asn768Asp) c.2284A>G (p.Asn762Asp) c.2254A>G (p.Asn752Asp) c.2212A>G (p.Asn738Asp) c.2119A>G (p.Asn707Asp) c.2131A>G (p.Asn711Asp) c.2268+19694A>G (n.2268+19694A>G) | COSMIC |
15 | g.27851460T>G | CA391360224 | OCA2 | c.2260A>C (p.Asn754His) c.2188A>C (p.Asn730His) c.2326A>C (p.Asn776His) c.2302A>C (p.Asn768His) c.2284A>C (p.Asn762His) c.2254A>C (p.Asn752His) c.2212A>C (p.Asn738His) c.2119A>C (p.Asn707His) c.2131A>C (p.Asn711His) c.2268+19694A>C (n.2268+19694A>C) | |
15 | g.27851461C>A | CA488959106 | OCA2 | c.2259G>T (p.Leu753=) c.2187G>T (p.Leu729=) c.2325G>T (p.Leu775=) c.2301G>T (p.Leu767=) c.2283G>T (p.Leu761=) c.2253G>T (p.Leu751=) c.2211G>T (p.Leu737=) c.2118G>T (p.Leu706=) c.2130G>T (p.Leu710=) c.2268+19693G>T (n.2268+19693G>T) | COSMIC |
15 | g.27851461C= | CA2166352033 | OCA2 | c.2259G= (p.Leu753=) c.2187G= (p.Leu729=) c.2325G= (p.Leu775=) c.2301G= (p.Leu767=) c.2283G= (p.Leu761=) c.2253G= (p.Leu751=) c.2211G= (p.Leu737=) c.2118G= (p.Leu706=) c.2130G= (p.Leu710=) c.2268+19693G= (n.2268+19693G=) | |
15 | g.27851461C>G | CA488959108 | OCA2 | c.2259G>C (p.Leu753=) c.2187G>C (p.Leu729=) c.2325G>C (p.Leu775=) c.2301G>C (p.Leu767=) c.2283G>C (p.Leu761=) c.2253G>C (p.Leu751=) c.2211G>C (p.Leu737=) c.2118G>C (p.Leu706=) c.2130G>C (p.Leu710=) c.2268+19693G>C (n.2268+19693G>C) | |
15 | g.27851461C>T | CA488959107 | OCA2 | c.2259G>A (p.Leu753=) c.2187G>A (p.Leu729=) c.2325G>A (p.Leu775=) c.2301G>A (p.Leu767=) c.2283G>A (p.Leu761=) c.2253G>A (p.Leu751=) c.2211G>A (p.Leu737=) c.2118G>A (p.Leu706=) c.2130G>A (p.Leu710=) c.2268+19693G>A (n.2268+19693G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.27851462A= | CA2166352034 | OCA2 | c.2258T= (p.Leu753=) c.2186T= (p.Leu729=) c.2324T= (p.Leu775=) c.2300T= (p.Leu767=) c.2282T= (p.Leu761=) c.2252T= (p.Leu751=) c.2210T= (p.Leu737=) c.2117T= (p.Leu706=) c.2129T= (p.Leu710=) c.2268+19692T= (n.2268+19692T=) | |
15 | g.27851462A>C | CA391360229 | OCA2 | c.2258T>G (p.Leu753Arg) c.2186T>G (p.Leu729Arg) c.2324T>G (p.Leu775Arg) c.2300T>G (p.Leu767Arg) c.2282T>G (p.Leu761Arg) c.2252T>G (p.Leu751Arg) c.2210T>G (p.Leu737Arg) c.2117T>G (p.Leu706Arg) c.2129T>G (p.Leu710Arg) c.2268+19692T>G (n.2268+19692T>G) | |
15 | g.27851462A>G | CA391360231 | OCA2 | c.2258T>C (p.Leu753Pro) c.2186T>C (p.Leu729Pro) c.2324T>C (p.Leu775Pro) c.2300T>C (p.Leu767Pro) c.2282T>C (p.Leu761Pro) c.2252T>C (p.Leu751Pro) c.2210T>C (p.Leu737Pro) c.2117T>C (p.Leu706Pro) c.2129T>C (p.Leu710Pro) c.2268+19692T>C (n.2268+19692T>C) | |
15 | g.27851462A>T | CA391360230 | OCA2 | c.2258T>A (p.Leu753Gln) c.2186T>A (p.Leu729Gln) c.2324T>A (p.Leu775Gln) c.2300T>A (p.Leu767Gln) c.2282T>A (p.Leu761Gln) c.2252T>A (p.Leu751Gln) c.2210T>A (p.Leu737Gln) c.2117T>A (p.Leu706Gln) c.2129T>A (p.Leu710Gln) c.2268+19692T>A (n.2268+19692T>A) | dbSNP gnomAD v4 |
15 | g.27851463G>A | CA488959110 | OCA2 | c.2257C>T (p.Leu753=) c.2185C>T (p.Leu729=) c.2323C>T (p.Leu775=) c.2299C>T (p.Leu767=) c.2281C>T (p.Leu761=) c.2251C>T (p.Leu751=) c.2209C>T (p.Leu737=) c.2116C>T (p.Leu706=) c.2128C>T (p.Leu710=) c.2268+19691C>T (n.2268+19691C>T) | |
15 | g.27851463G>C | CA391360234 | OCA2 | c.2257C>G (p.Leu753Val) c.2185C>G (p.Leu729Val) c.2323C>G (p.Leu775Val) c.2299C>G (p.Leu767Val) c.2281C>G (p.Leu761Val) c.2251C>G (p.Leu751Val) c.2209C>G (p.Leu737Val) c.2116C>G (p.Leu706Val) c.2128C>G (p.Leu710Val) c.2268+19691C>G (n.2268+19691C>G) | |
15 | g.27851463G>T | CA391360236 | OCA2 | c.2257C>A (p.Leu753Met) c.2185C>A (p.Leu729Met) c.2323C>A (p.Leu775Met) c.2299C>A (p.Leu767Met) c.2281C>A (p.Leu761Met) c.2251C>A (p.Leu751Met) c.2209C>A (p.Leu737Met) c.2116C>A (p.Leu706Met) c.2128C>A (p.Leu710Met) c.2268+19691C>A (n.2268+19691C>A) | |
15 | g.27851464G>A | CA488959111 | OCA2 | c.2256C>T (p.Leu752=) c.2184C>T (p.Leu728=) c.2322C>T (p.Leu774=) c.2298C>T (p.Leu766=) c.2280C>T (p.Leu760=) c.2250C>T (p.Leu750=) c.2208C>T (p.Leu736=) c.2115C>T (p.Leu705=) c.2127C>T (p.Leu709=) c.2268+19690C>T (n.2268+19690C>T) | |
15 | g.27851464G>C | CA7438665 | OCA2 | c.2256C>G (p.Leu752=) c.2184C>G (p.Leu728=) c.2322C>G (p.Leu774=) c.2298C>G (p.Leu766=) c.2280C>G (p.Leu760=) c.2250C>G (p.Leu750=) c.2208C>G (p.Leu736=) c.2115C>G (p.Leu705=) c.2127C>G (p.Leu709=) c.2268+19690C>G (n.2268+19690C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851464G= | CA2166352035 | OCA2 | c.2256C= (p.Leu752=) c.2184C= (p.Leu728=) c.2322C= (p.Leu774=) c.2298C= (p.Leu766=) c.2280C= (p.Leu760=) c.2250C= (p.Leu750=) c.2208C= (p.Leu736=) c.2115C= (p.Leu705=) c.2127C= (p.Leu709=) c.2268+19690C= (n.2268+19690C=) | |
15 | g.27851464G>T | CA488959112 | OCA2 | c.2256C>A (p.Leu752=) c.2184C>A (p.Leu728=) c.2322C>A (p.Leu774=) c.2298C>A (p.Leu766=) c.2280C>A (p.Leu760=) c.2250C>A (p.Leu750=) c.2208C>A (p.Leu736=) c.2115C>A (p.Leu705=) c.2127C>A (p.Leu709=) c.2268+19690C>A (n.2268+19690C>A) | |
15 | g.27851465A>C | CA391360240 | OCA2 | c.2255T>G (p.Leu752Arg) c.2183T>G (p.Leu728Arg) c.2321T>G (p.Leu774Arg) c.2297T>G (p.Leu766Arg) c.2279T>G (p.Leu760Arg) c.2249T>G (p.Leu750Arg) c.2207T>G (p.Leu736Arg) c.2114T>G (p.Leu705Arg) c.2126T>G (p.Leu709Arg) c.2268+19689T>G (n.2268+19689T>G) | |
15 | g.27851465A>G | CA391360238 | OCA2 | c.2255T>C (p.Leu752Pro) c.2183T>C (p.Leu728Pro) c.2321T>C (p.Leu774Pro) c.2297T>C (p.Leu766Pro) c.2279T>C (p.Leu760Pro) c.2249T>C (p.Leu750Pro) c.2207T>C (p.Leu736Pro) c.2114T>C (p.Leu705Pro) c.2126T>C (p.Leu709Pro) c.2268+19689T>C (n.2268+19689T>C) | ClinVar |
15 | g.27851465A>T | CA391360239 | OCA2 | c.2255T>A (p.Leu752His) c.2183T>A (p.Leu728His) c.2321T>A (p.Leu774His) c.2297T>A (p.Leu766His) c.2279T>A (p.Leu760His) c.2249T>A (p.Leu750His) c.2207T>A (p.Leu736His) c.2114T>A (p.Leu705His) c.2126T>A (p.Leu709His) c.2268+19689T>A (n.2268+19689T>A) | |
15 | g.27851466G>A | CA391360242 | OCA2 | c.2254C>T (p.Leu752Phe) c.2182C>T (p.Leu728Phe) c.2320C>T (p.Leu774Phe) c.2296C>T (p.Leu766Phe) c.2278C>T (p.Leu760Phe) c.2248C>T (p.Leu750Phe) c.2206C>T (p.Leu736Phe) c.2113C>T (p.Leu705Phe) c.2125C>T (p.Leu709Phe) c.2268+19688C>T (n.2268+19688C>T) | |
15 | g.27851466G>C | CA391360244 | OCA2 | c.2254C>G (p.Leu752Val) c.2182C>G (p.Leu728Val) c.2320C>G (p.Leu774Val) c.2296C>G (p.Leu766Val) c.2278C>G (p.Leu760Val) c.2248C>G (p.Leu750Val) c.2206C>G (p.Leu736Val) c.2113C>G (p.Leu705Val) c.2125C>G (p.Leu709Val) c.2268+19688C>G (n.2268+19688C>G) | gnomAD v4 |
15 | g.27851466G>T | CA391360246 | OCA2 | c.2254C>A (p.Leu752Ile) c.2182C>A (p.Leu728Ile) c.2320C>A (p.Leu774Ile) c.2296C>A (p.Leu766Ile) c.2278C>A (p.Leu760Ile) c.2248C>A (p.Leu750Ile) c.2206C>A (p.Leu736Ile) c.2113C>A (p.Leu705Ile) c.2125C>A (p.Leu709Ile) c.2268+19688C>A (n.2268+19688C>A) | gnomAD v4 COSMIC |
15 | g.27851467C>A | CA488959113 | OCA2 | c.2253G>T (p.Val751=) c.2181G>T (p.Val727=) c.2319G>T (p.Val773=) c.2295G>T (p.Val765=) c.2277G>T (p.Val759=) c.2247G>T (p.Val749=) c.2205G>T (p.Val735=) c.2112G>T (p.Val704=) c.2124G>T (p.Val708=) c.2268+19687G>T (n.2268+19687G>T) | |
15 | g.27851467C>G | CA488959114 | OCA2 | c.2253G>C (p.Val751=) c.2181G>C (p.Val727=) c.2319G>C (p.Val773=) c.2295G>C (p.Val765=) c.2277G>C (p.Val759=) c.2247G>C (p.Val749=) c.2205G>C (p.Val735=) c.2112G>C (p.Val704=) c.2124G>C (p.Val708=) c.2268+19687G>C (n.2268+19687G>C) | |
15 | g.27851467C>T | CA488959115 | OCA2 | c.2253G>A (p.Val751=) c.2181G>A (p.Val727=) c.2319G>A (p.Val773=) c.2295G>A (p.Val765=) c.2277G>A (p.Val759=) c.2247G>A (p.Val749=) c.2205G>A (p.Val735=) c.2112G>A (p.Val704=) c.2124G>A (p.Val708=) c.2268+19687G>A (n.2268+19687G>A) | ClinVar |
15 | g.27851468A>C | CA391360249 | OCA2 | c.2252T>G (p.Val751Gly) c.2180T>G (p.Val727Gly) c.2318T>G (p.Val773Gly) c.2294T>G (p.Val765Gly) c.2276T>G (p.Val759Gly) c.2246T>G (p.Val749Gly) c.2204T>G (p.Val735Gly) c.2111T>G (p.Val704Gly) c.2123T>G (p.Val708Gly) c.2268+19686T>G (n.2268+19686T>G) | |
15 | g.27851468A>G | CA391360250 | OCA2 | c.2252T>C (p.Val751Ala) c.2180T>C (p.Val727Ala) c.2318T>C (p.Val773Ala) c.2294T>C (p.Val765Ala) c.2276T>C (p.Val759Ala) c.2246T>C (p.Val749Ala) c.2204T>C (p.Val735Ala) c.2111T>C (p.Val704Ala) c.2123T>C (p.Val708Ala) c.2268+19686T>C (n.2268+19686T>C) | |
15 | g.27851468A>T | CA391360252 | OCA2 | c.2252T>A (p.Val751Glu) c.2180T>A (p.Val727Glu) c.2318T>A (p.Val773Glu) c.2294T>A (p.Val765Glu) c.2276T>A (p.Val759Glu) c.2246T>A (p.Val749Glu) c.2204T>A (p.Val735Glu) c.2111T>A (p.Val704Glu) c.2123T>A (p.Val708Glu) c.2268+19686T>A (n.2268+19686T>A) | |
15 | g.27851469C>A | CA391360254 | OCA2 | c.2251G>T (p.Val751Leu) c.2179G>T (p.Val727Leu) c.2317G>T (p.Val773Leu) c.2293G>T (p.Val765Leu) c.2275G>T (p.Val759Leu) c.2245G>T (p.Val749Leu) c.2203G>T (p.Val735Leu) c.2110G>T (p.Val704Leu) c.2122G>T (p.Val708Leu) c.2268+19685G>T (n.2268+19685G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851469C= | CA2166352036 | OCA2 | c.2251G= (p.Val751=) c.2179G= (p.Val727=) c.2317G= (p.Val773=) c.2293G= (p.Val765=) c.2275G= (p.Val759=) c.2245G= (p.Val749=) c.2203G= (p.Val735=) c.2110G= (p.Val704=) c.2122G= (p.Val708=) c.2268+19685G= (n.2268+19685G=) | |
15 | g.27851469C>G | CA391360256 | OCA2 | c.2251G>C (p.Val751Leu) c.2179G>C (p.Val727Leu) c.2317G>C (p.Val773Leu) c.2293G>C (p.Val765Leu) c.2275G>C (p.Val759Leu) c.2245G>C (p.Val749Leu) c.2203G>C (p.Val735Leu) c.2110G>C (p.Val704Leu) c.2122G>C (p.Val708Leu) c.2268+19685G>C (n.2268+19685G>C) | |
15 | g.27851469C>T | CA7438666 | OCA2 | c.2251G>A (p.Val751Met) c.2179G>A (p.Val727Met) c.2317G>A (p.Val773Met) c.2293G>A (p.Val765Met) c.2275G>A (p.Val759Met) c.2245G>A (p.Val749Met) c.2203G>A (p.Val735Met) c.2110G>A (p.Val704Met) c.2122G>A (p.Val708Met) c.2268+19685G>A (n.2268+19685G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
15 | g.27851470G>A | CA7438667 | OCA2 | c.2250C>T (p.Pro750=) c.2178C>T (p.Pro726=) c.2316C>T (p.Pro772=) c.2292C>T (p.Pro764=) c.2274C>T (p.Pro758=) c.2244C>T (p.Pro748=) c.2202C>T (p.Pro734=) c.2109C>T (p.Pro703=) c.2121C>T (p.Pro707=) c.2268+19684C>T (n.2268+19684C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851470G>C | CA488959116 | OCA2 | c.2250C>G (p.Pro750=) c.2178C>G (p.Pro726=) c.2316C>G (p.Pro772=) c.2292C>G (p.Pro764=) c.2274C>G (p.Pro758=) c.2244C>G (p.Pro748=) c.2202C>G (p.Pro734=) c.2109C>G (p.Pro703=) c.2121C>G (p.Pro707=) c.2268+19684C>G (n.2268+19684C>G) | |
15 | g.27851470G= | CA2166352037 | OCA2 | c.2250C= (p.Pro750=) c.2178C= (p.Pro726=) c.2316C= (p.Pro772=) c.2292C= (p.Pro764=) c.2274C= (p.Pro758=) c.2244C= (p.Pro748=) c.2202C= (p.Pro734=) c.2109C= (p.Pro703=) c.2121C= (p.Pro707=) c.2268+19684C= (n.2268+19684C=) | |
15 | g.27851470G>T | CA488959117 | OCA2 | c.2250C>A (p.Pro750=) c.2178C>A (p.Pro726=) c.2316C>A (p.Pro772=) c.2292C>A (p.Pro764=) c.2274C>A (p.Pro758=) c.2244C>A (p.Pro748=) c.2202C>A (p.Pro734=) c.2109C>A (p.Pro703=) c.2121C>A (p.Pro707=) c.2268+19684C>A (n.2268+19684C>A) | |
15 | g.27851471G>A | CA391360259 | OCA2 | c.2249C>T (p.Pro750Leu) c.2177C>T (p.Pro726Leu) c.2315C>T (p.Pro772Leu) c.2291C>T (p.Pro764Leu) c.2273C>T (p.Pro758Leu) c.2243C>T (p.Pro748Leu) c.2201C>T (p.Pro734Leu) c.2108C>T (p.Pro703Leu) c.2120C>T (p.Pro707Leu) c.2268+19683C>T (n.2268+19683C>T) | gnomAD v4 |
15 | g.27851471G>C | CA391360262 | OCA2 | c.2249C>G (p.Pro750Arg) c.2177C>G (p.Pro726Arg) c.2315C>G (p.Pro772Arg) c.2291C>G (p.Pro764Arg) c.2273C>G (p.Pro758Arg) c.2243C>G (p.Pro748Arg) c.2201C>G (p.Pro734Arg) c.2108C>G (p.Pro703Arg) c.2120C>G (p.Pro707Arg) c.2268+19683C>G (n.2268+19683C>G) | |
15 | g.27851471G= | CA2166352038 | OCA2 | c.2249C= (p.Pro750=) c.2177C= (p.Pro726=) c.2315C= (p.Pro772=) c.2291C= (p.Pro764=) c.2273C= (p.Pro758=) c.2243C= (p.Pro748=) c.2201C= (p.Pro734=) c.2108C= (p.Pro703=) c.2120C= (p.Pro707=) c.2268+19683C= (n.2268+19683C=) | |
15 | g.27851471G>T | CA267845230 | OCA2 | c.2249C>A (p.Pro750His) c.2177C>A (p.Pro726His) c.2315C>A (p.Pro772His) c.2291C>A (p.Pro764His) c.2273C>A (p.Pro758His) c.2243C>A (p.Pro748His) c.2201C>A (p.Pro734His) c.2108C>A (p.Pro703His) c.2120C>A (p.Pro707His) c.2268+19683C>A (n.2268+19683C>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27851472G>A | CA391360264 | OCA2 | c.2248C>T (p.Pro750Ser) c.2176C>T (p.Pro726Ser) c.2314C>T (p.Pro772Ser) c.2290C>T (p.Pro764Ser) c.2272C>T (p.Pro758Ser) c.2242C>T (p.Pro748Ser) c.2200C>T (p.Pro734Ser) c.2107C>T (p.Pro703Ser) c.2119C>T (p.Pro707Ser) c.2268+19682C>T (n.2268+19682C>T) | |
15 | g.27851472G>C | CA391360266 | OCA2 | c.2248C>G (p.Pro750Ala) c.2176C>G (p.Pro726Ala) c.2314C>G (p.Pro772Ala) c.2290C>G (p.Pro764Ala) c.2272C>G (p.Pro758Ala) c.2242C>G (p.Pro748Ala) c.2200C>G (p.Pro734Ala) c.2107C>G (p.Pro703Ala) c.2119C>G (p.Pro707Ala) c.2268+19682C>G (n.2268+19682C>G) | dbSNP |
15 | g.27851472G= | CA2166352039 | OCA2 | c.2248C= (p.Pro750=) c.2176C= (p.Pro726=) c.2314C= (p.Pro772=) c.2290C= (p.Pro764=) c.2272C= (p.Pro758=) c.2242C= (p.Pro748=) c.2200C= (p.Pro734=) c.2107C= (p.Pro703=) c.2119C= (p.Pro707=) c.2268+19682C= (n.2268+19682C=) | |
15 | g.27851472G>T | CA391360268 | OCA2 | c.2248C>A (p.Pro750Thr) c.2176C>A (p.Pro726Thr) c.2314C>A (p.Pro772Thr) c.2290C>A (p.Pro764Thr) c.2272C>A (p.Pro758Thr) c.2242C>A (p.Pro748Thr) c.2200C>A (p.Pro734Thr) c.2107C>A (p.Pro703Thr) c.2119C>A (p.Pro707Thr) c.2268+19682C>A (n.2268+19682C>A) | |
15 | g.27851473A>C | CA391360270 | OCA2 | c.2247T>G (p.Ile749Met) c.2175T>G (p.Ile725Met) c.2313T>G (p.Ile771Met) c.2289T>G (p.Ile763Met) c.2271T>G (p.Ile757Met) c.2241T>G (p.Ile747Met) c.2199T>G (p.Ile733Met) c.2106T>G (p.Ile702Met) c.2118T>G (p.Ile706Met) c.2268+19681T>G (n.2268+19681T>G) | |
15 | g.27851473A>G | CA488959119 | OCA2 | c.2247T>C (p.Ile749=) c.2175T>C (p.Ile725=) c.2313T>C (p.Ile771=) c.2289T>C (p.Ile763=) c.2271T>C (p.Ile757=) c.2241T>C (p.Ile747=) c.2199T>C (p.Ile733=) c.2106T>C (p.Ile702=) c.2118T>C (p.Ile706=) c.2268+19681T>C (n.2268+19681T>C) | |
15 | g.27851473A>T | CA488959121 | OCA2 | c.2247T>A (p.Ile749=) c.2175T>A (p.Ile725=) c.2313T>A (p.Ile771=) c.2289T>A (p.Ile763=) c.2271T>A (p.Ile757=) c.2241T>A (p.Ile747=) c.2199T>A (p.Ile733=) c.2106T>A (p.Ile702=) c.2118T>A (p.Ile706=) c.2268+19681T>A (n.2268+19681T>A) | dbSNP |
15 | g.27851474A>C | CA391360272 | OCA2 | c.2246T>G (p.Ile749Ser) c.2174T>G (p.Ile725Ser) c.2312T>G (p.Ile771Ser) c.2288T>G (p.Ile763Ser) c.2270T>G (p.Ile757Ser) c.2240T>G (p.Ile747Ser) c.2198T>G (p.Ile733Ser) c.2105T>G (p.Ile702Ser) c.2117T>G (p.Ile706Ser) c.2268+19680T>G (n.2268+19680T>G) | |
15 | g.27851474A>G | CA391360275 | OCA2 | c.2246T>C (p.Ile749Thr) c.2174T>C (p.Ile725Thr) c.2312T>C (p.Ile771Thr) c.2288T>C (p.Ile763Thr) c.2270T>C (p.Ile757Thr) c.2240T>C (p.Ile747Thr) c.2198T>C (p.Ile733Thr) c.2105T>C (p.Ile702Thr) c.2117T>C (p.Ile706Thr) c.2268+19680T>C (n.2268+19680T>C) | |
15 | g.27851474A>T | CA391360276 | OCA2 | c.2246T>A (p.Ile749Asn) c.2174T>A (p.Ile725Asn) c.2312T>A (p.Ile771Asn) c.2288T>A (p.Ile763Asn) c.2270T>A (p.Ile757Asn) c.2240T>A (p.Ile747Asn) c.2198T>A (p.Ile733Asn) c.2105T>A (p.Ile702Asn) c.2117T>A (p.Ile706Asn) c.2268+19680T>A (n.2268+19680T>A) | |
15 | g.27851475T>A | CA391360278 | OCA2 | c.2245A>T (p.Ile749Phe) c.2173A>T (p.Ile725Phe) c.2311A>T (p.Ile771Phe) c.2287A>T (p.Ile763Phe) c.2269A>T (p.Ile757Phe) c.2239A>T (p.Ile747Phe) c.2197A>T (p.Ile733Phe) c.2104A>T (p.Ile702Phe) c.2116A>T (p.Ile706Phe) c.2268+19679A>T (n.2268+19679A>T) | |
15 | g.27851475T>C | CA391360280 | OCA2 | c.2245A>G (p.Ile749Val) c.2173A>G (p.Ile725Val) c.2311A>G (p.Ile771Val) c.2287A>G (p.Ile763Val) c.2269A>G (p.Ile757Val) c.2239A>G (p.Ile747Val) c.2197A>G (p.Ile733Val) c.2104A>G (p.Ile702Val) c.2116A>G (p.Ile706Val) c.2268+19679A>G (n.2268+19679A>G) | |
15 | g.27851475T>G | CA391360281 | OCA2 | c.2245A>C (p.Ile749Leu) c.2173A>C (p.Ile725Leu) c.2311A>C (p.Ile771Leu) c.2287A>C (p.Ile763Leu) c.2269A>C (p.Ile757Leu) c.2239A>C (p.Ile747Leu) c.2197A>C (p.Ile733Leu) c.2104A>C (p.Ile702Leu) c.2116A>C (p.Ile706Leu) c.2268+19679A>C (n.2268+19679A>C) | |
15 | g.27851476C>A | CA391360285 | OCA2 | c.2245-1G>T (n.2245-1G>T) c.2173-1G>T (n.2173-1G>T) c.2311-1G>T (n.2311-1G>T) c.2287-1G>T (n.2287-1G>T) c.2269-1G>T (n.2269-1G>T) c.2239-1G>T (n.2239-1G>T) c.2197-1G>T (n.2197-1G>T) c.2104-1G>T (n.2104-1G>T) c.2116-1G>T (n.2116-1G>T) c.2268+19678G>T (n.2268+19678G>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.27851476C= | CA2166352040 | OCA2 | c.2245-1G= (n.2245-1G=) c.2173-1G= (n.2173-1G=) c.2311-1G= (n.2311-1G=) c.2287-1G= (n.2287-1G=) c.2269-1G= (n.2269-1G=) c.2239-1G= (n.2239-1G=) c.2197-1G= (n.2197-1G=) c.2104-1G= (n.2104-1G=) c.2116-1G= (n.2116-1G=) c.2268+19678G= (n.2268+19678G=) | |
15 | g.27851476C>G | CA391360287 | OCA2 | c.2245-1G>C (n.2245-1G>C) c.2173-1G>C (n.2173-1G>C) c.2311-1G>C (n.2311-1G>C) c.2287-1G>C (n.2287-1G>C) c.2269-1G>C (n.2269-1G>C) c.2239-1G>C (n.2239-1G>C) c.2197-1G>C (n.2197-1G>C) c.2104-1G>C (n.2104-1G>C) c.2116-1G>C (n.2116-1G>C) c.2268+19678G>C (n.2268+19678G>C) | |
15 | g.27851476C>T | CA391360283 | OCA2 | c.2245-1G>A (n.2245-1G>A) c.2173-1G>A (n.2173-1G>A) c.2311-1G>A (n.2311-1G>A) c.2287-1G>A (n.2287-1G>A) c.2269-1G>A (n.2269-1G>A) c.2239-1G>A (n.2239-1G>A) c.2197-1G>A (n.2197-1G>A) c.2104-1G>A (n.2104-1G>A) c.2116-1G>A (n.2116-1G>A) c.2268+19678G>A (n.2268+19678G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.27851476_27851478delinsCTG | CA2166352041 | OCA2 | c.2245-3_2245-1delinsCAG (n.2245-3_2245-1delinsCAG) c.2173-3_2173-1delinsCAG (n.2173-3_2173-1delinsCAG) c.2311-3_2311-1delinsCAG (n.2311-3_2311-1delinsCAG) c.2287-3_2287-1delinsCAG (n.2287-3_2287-1delinsCAG) c.2269-3_2269-1delinsCAG (n.2269-3_2269-1delinsCAG) c.2239-3_2239-1delinsCAG (n.2239-3_2239-1delinsCAG) c.2197-3_2197-1delinsCAG (n.2197-3_2197-1delinsCAG) c.2104-3_2104-1delinsCAG (n.2104-3_2104-1delinsCAG) c.2116-3_2116-1delinsCAG (n.2116-3_2116-1delinsCAG) c.2268+19676_2268+19678delinsCAG (n.2268+19676_2268+19678delinsCAG) | |
15 | g.27851477T>A | CA391360289 | OCA2 | c.2245-2A>T (n.2245-2A>T) c.2173-2A>T (n.2173-2A>T) c.2311-2A>T (n.2311-2A>T) c.2287-2A>T (n.2287-2A>T) c.2269-2A>T (n.2269-2A>T) c.2239-2A>T (n.2239-2A>T) c.2197-2A>T (n.2197-2A>T) c.2104-2A>T (n.2104-2A>T) c.2116-2A>T (n.2116-2A>T) c.2268+19677A>T (n.2268+19677A>T) | |
15 | g.27851477T>C | CA391360291 | OCA2 | c.2245-2A>G (n.2245-2A>G) c.2173-2A>G (n.2173-2A>G) c.2311-2A>G (n.2311-2A>G) c.2287-2A>G (n.2287-2A>G) c.2269-2A>G (n.2269-2A>G) c.2239-2A>G (n.2239-2A>G) c.2197-2A>G (n.2197-2A>G) c.2104-2A>G (n.2104-2A>G) c.2116-2A>G (n.2116-2A>G) c.2268+19677A>G (n.2268+19677A>G) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.27851477T>G | CA391360293 | OCA2 | c.2245-2A>C (n.2245-2A>C) c.2173-2A>C (n.2173-2A>C) c.2311-2A>C (n.2311-2A>C) c.2287-2A>C (n.2287-2A>C) c.2269-2A>C (n.2269-2A>C) c.2239-2A>C (n.2239-2A>C) c.2197-2A>C (n.2197-2A>C) c.2104-2A>C (n.2104-2A>C) c.2116-2A>C (n.2116-2A>C) c.2268+19677A>C (n.2268+19677A>C) | |
15 | g.27851477T= | CA2166352043 | OCA2 | c.2245-2A= (n.2245-2A=) c.2173-2A= (n.2173-2A=) c.2311-2A= (n.2311-2A=) c.2287-2A= (n.2287-2A=) c.2269-2A= (n.2269-2A=) c.2239-2A= (n.2239-2A=) c.2197-2A= (n.2197-2A=) c.2104-2A= (n.2104-2A=) c.2116-2A= (n.2116-2A=) c.2268+19677A= (n.2268+19677A=) | |
15 | g.27851479_27851480del | CA2166352042 | OCA2 | c.2245-3_2245-2del (n.2245-3_2245-2del) c.2173-3_2173-2del (n.2173-3_2173-2del) c.2311-3_2311-2del (n.2311-3_2311-2del) c.2287-3_2287-2del (n.2287-3_2287-2del) c.2269-3_2269-2del (n.2269-3_2269-2del) c.2239-3_2239-2del (n.2239-3_2239-2del) c.2197-3_2197-2del (n.2197-3_2197-2del) c.2104-3_2104-2del (n.2104-3_2104-2del) c.2116-3_2116-2del (n.2116-3_2116-2del) c.2268+19676_2268+19677del (n.2268+19676_2268+19677del) | dbSNP |
15 | g.27851478G>A | CA2627378318 | OCA2 | c.2245-3C>T (n.2245-3C>T) c.2173-3C>T (n.2173-3C>T) c.2311-3C>T (n.2311-3C>T) c.2287-3C>T (n.2287-3C>T) c.2269-3C>T (n.2269-3C>T) c.2239-3C>T (n.2239-3C>T) c.2197-3C>T (n.2197-3C>T) c.2104-3C>T (n.2104-3C>T) c.2116-3C>T (n.2116-3C>T) c.2268+19676C>T (n.2268+19676C>T) | gnomAD v4 |
15 | g.27851478G>C | CA2627378320 | OCA2 | c.2245-3C>G (n.2245-3C>G) c.2173-3C>G (n.2173-3C>G) c.2311-3C>G (n.2311-3C>G) c.2287-3C>G (n.2287-3C>G) c.2269-3C>G (n.2269-3C>G) c.2239-3C>G (n.2239-3C>G) c.2197-3C>G (n.2197-3C>G) c.2104-3C>G (n.2104-3C>G) c.2116-3C>G (n.2116-3C>G) c.2268+19676C>G (n.2268+19676C>G) | gnomAD v4 |
15 | g.27851480G>A | CA2627378321 | OCA2 | c.2245-5C>T (n.2245-5C>T) c.2173-5C>T (n.2173-5C>T) c.2311-5C>T (n.2311-5C>T) c.2287-5C>T (n.2287-5C>T) c.2269-5C>T (n.2269-5C>T) c.2239-5C>T (n.2239-5C>T) c.2197-5C>T (n.2197-5C>T) c.2104-5C>T (n.2104-5C>T) c.2116-5C>T (n.2116-5C>T) c.2268+19674C>T (n.2268+19674C>T) | gnomAD v4 |
15 | g.27851481G>A | CA7438669 | OCA2 | c.2245-6C>T (n.2245-6C>T) c.2173-6C>T (n.2173-6C>T) c.2311-6C>T (n.2311-6C>T) c.2287-6C>T (n.2287-6C>T) c.2269-6C>T (n.2269-6C>T) c.2239-6C>T (n.2239-6C>T) c.2197-6C>T (n.2197-6C>T) c.2104-6C>T (n.2104-6C>T) c.2116-6C>T (n.2116-6C>T) c.2268+19673C>T (n.2268+19673C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851481G>C | CA7438670 | OCA2 | c.2245-6C>G (n.2245-6C>G) c.2173-6C>G (n.2173-6C>G) c.2311-6C>G (n.2311-6C>G) c.2287-6C>G (n.2287-6C>G) c.2269-6C>G (n.2269-6C>G) c.2239-6C>G (n.2239-6C>G) c.2197-6C>G (n.2197-6C>G) c.2104-6C>G (n.2104-6C>G) c.2116-6C>G (n.2116-6C>G) c.2268+19673C>G (n.2268+19673C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27851481G= | CA2166352044 | OCA2 | c.2245-6C= (n.2245-6C=) c.2173-6C= (n.2173-6C=) c.2311-6C= (n.2311-6C=) c.2287-6C= (n.2287-6C=) c.2269-6C= (n.2269-6C=) c.2239-6C= (n.2239-6C=) c.2197-6C= (n.2197-6C=) c.2104-6C= (n.2104-6C=) c.2116-6C= (n.2116-6C=) c.2268+19673C= (n.2268+19673C=) | |
15 | g.27851481G>T | CA7438668 | OCA2 | c.2245-6C>A (n.2245-6C>A) c.2173-6C>A (n.2173-6C>A) c.2311-6C>A (n.2311-6C>A) c.2287-6C>A (n.2287-6C>A) c.2269-6C>A (n.2269-6C>A) c.2239-6C>A (n.2239-6C>A) c.2197-6C>A (n.2197-6C>A) c.2104-6C>A (n.2104-6C>A) c.2116-6C>A (n.2116-6C>A) c.2268+19673C>A (n.2268+19673C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851483G>A | CA2627378336 | OCA2 | c.2245-8C>T (n.2245-8C>T) c.2173-8C>T (n.2173-8C>T) c.2311-8C>T (n.2311-8C>T) c.2287-8C>T (n.2287-8C>T) c.2269-8C>T (n.2269-8C>T) c.2239-8C>T (n.2239-8C>T) c.2197-8C>T (n.2197-8C>T) c.2104-8C>T (n.2104-8C>T) c.2116-8C>T (n.2116-8C>T) c.2268+19671C>T (n.2268+19671C>T) | gnomAD v4 |
15 | g.27851483G>C | CA7438671 | OCA2 | c.2245-8C>G (n.2245-8C>G) c.2173-8C>G (n.2173-8C>G) c.2311-8C>G (n.2311-8C>G) c.2287-8C>G (n.2287-8C>G) c.2269-8C>G (n.2269-8C>G) c.2239-8C>G (n.2239-8C>G) c.2197-8C>G (n.2197-8C>G) c.2104-8C>G (n.2104-8C>G) c.2116-8C>G (n.2116-8C>G) c.2268+19671C>G (n.2268+19671C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851483G= | CA2166352045 | OCA2 | c.2245-8C= (n.2245-8C=) c.2173-8C= (n.2173-8C=) c.2311-8C= (n.2311-8C=) c.2287-8C= (n.2287-8C=) c.2269-8C= (n.2269-8C=) c.2239-8C= (n.2239-8C=) c.2197-8C= (n.2197-8C=) c.2104-8C= (n.2104-8C=) c.2116-8C= (n.2116-8C=) c.2268+19671C= (n.2268+19671C=) | |
15 | g.27851486A= | CA2166352046 | OCA2 | c.2245-11T= (n.2245-11T=) c.2173-11T= (n.2173-11T=) c.2311-11T= (n.2311-11T=) c.2287-11T= (n.2287-11T=) c.2269-11T= (n.2269-11T=) c.2239-11T= (n.2239-11T=) c.2197-11T= (n.2197-11T=) c.2104-11T= (n.2104-11T=) c.2116-11T= (n.2116-11T=) c.2268+19668T= (n.2268+19668T=) | |
15 | g.27851486A>C | CA2695219755 | OCA2 | c.2245-11T>G (n.2245-11T>G) c.2173-11T>G (n.2173-11T>G) c.2311-11T>G (n.2311-11T>G) c.2287-11T>G (n.2287-11T>G) c.2269-11T>G (n.2269-11T>G) c.2239-11T>G (n.2239-11T>G) c.2197-11T>G (n.2197-11T>G) c.2104-11T>G (n.2104-11T>G) c.2116-11T>G (n.2116-11T>G) c.2268+19668T>G (n.2268+19668T>G) | |
15 | g.27851486A>G | CA711710327 | OCA2 | c.2245-11T>C (n.2245-11T>C) c.2173-11T>C (n.2173-11T>C) c.2311-11T>C (n.2311-11T>C) c.2287-11T>C (n.2287-11T>C) c.2269-11T>C (n.2269-11T>C) c.2239-11T>C (n.2239-11T>C) c.2197-11T>C (n.2197-11T>C) c.2104-11T>C (n.2104-11T>C) c.2116-11T>C (n.2116-11T>C) c.2268+19668T>C (n.2268+19668T>C) | ClinVar dbSNP |
15 | g.27851487G>A | CA7438672 | OCA2 | c.2245-12C>T (n.2245-12C>T) c.2173-12C>T (n.2173-12C>T) c.2311-12C>T (n.2311-12C>T) c.2287-12C>T (n.2287-12C>T) c.2269-12C>T (n.2269-12C>T) c.2239-12C>T (n.2239-12C>T) c.2197-12C>T (n.2197-12C>T) c.2104-12C>T (n.2104-12C>T) c.2116-12C>T (n.2116-12C>T) c.2268+19667C>T (n.2268+19667C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27851487G>C | CA7438673 | OCA2 | c.2245-12C>G (n.2245-12C>G) c.2173-12C>G (n.2173-12C>G) c.2311-12C>G (n.2311-12C>G) c.2287-12C>G (n.2287-12C>G) c.2269-12C>G (n.2269-12C>G) c.2239-12C>G (n.2239-12C>G) c.2197-12C>G (n.2197-12C>G) c.2104-12C>G (n.2104-12C>G) c.2116-12C>G (n.2116-12C>G) c.2268+19667C>G (n.2268+19667C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27851487G= | CA2166352047 | OCA2 | c.2245-12C= (n.2245-12C=) c.2173-12C= (n.2173-12C=) c.2311-12C= (n.2311-12C=) c.2287-12C= (n.2287-12C=) c.2269-12C= (n.2269-12C=) c.2239-12C= (n.2239-12C=) c.2197-12C= (n.2197-12C=) c.2104-12C= (n.2104-12C=) c.2116-12C= (n.2116-12C=) c.2268+19667C= (n.2268+19667C=) | |
15 | g.27851487G>T | CA2627378343 | OCA2 | c.2245-12C>A (n.2245-12C>A) c.2173-12C>A (n.2173-12C>A) c.2311-12C>A (n.2311-12C>A) c.2287-12C>A (n.2287-12C>A) c.2269-12C>A (n.2269-12C>A) c.2239-12C>A (n.2239-12C>A) c.2197-12C>A (n.2197-12C>A) c.2104-12C>A (n.2104-12C>A) c.2116-12C>A (n.2116-12C>A) c.2268+19667C>A (n.2268+19667C>A) | ClinVar gnomAD v4 |
15 | g.27851488A>C | CA2803490120 | OCA2 | c.2245-13T>G (n.2245-13T>G) c.2173-13T>G (n.2173-13T>G) c.2311-13T>G (n.2311-13T>G) c.2287-13T>G (n.2287-13T>G) c.2269-13T>G (n.2269-13T>G) c.2239-13T>G (n.2239-13T>G) c.2197-13T>G (n.2197-13T>G) c.2104-13T>G (n.2104-13T>G) c.2116-13T>G (n.2116-13T>G) c.2268+19666T>G (n.2268+19666T>G) | |
15 | g.27851489G>A | CA2627378348 | OCA2 | c.2245-14C>T (n.2245-14C>T) c.2173-14C>T (n.2173-14C>T) c.2311-14C>T (n.2311-14C>T) c.2287-14C>T (n.2287-14C>T) c.2269-14C>T (n.2269-14C>T) c.2239-14C>T (n.2239-14C>T) c.2197-14C>T (n.2197-14C>T) c.2104-14C>T (n.2104-14C>T) c.2116-14C>T (n.2116-14C>T) c.2268+19665C>T (n.2268+19665C>T) | gnomAD v4 |
15 | g.27851489G>T | CA2627378350 | OCA2 | c.2245-14C>A (n.2245-14C>A) c.2173-14C>A (n.2173-14C>A) c.2311-14C>A (n.2311-14C>A) c.2287-14C>A (n.2287-14C>A) c.2269-14C>A (n.2269-14C>A) c.2239-14C>A (n.2239-14C>A) c.2197-14C>A (n.2197-14C>A) c.2104-14C>A (n.2104-14C>A) c.2116-14C>A (n.2116-14C>A) c.2268+19665C>A (n.2268+19665C>A) | gnomAD v4 |
15 | g.27851490G>T | CA2627378352 | OCA2 | c.2245-15C>A (n.2245-15C>A) c.2173-15C>A (n.2173-15C>A) c.2311-15C>A (n.2311-15C>A) c.2287-15C>A (n.2287-15C>A) c.2269-15C>A (n.2269-15C>A) c.2239-15C>A (n.2239-15C>A) c.2197-15C>A (n.2197-15C>A) c.2104-15C>A (n.2104-15C>A) c.2116-15C>A (n.2116-15C>A) c.2268+19664C>A (n.2268+19664C>A) | gnomAD v4 |
15 | g.27851491A= | CA2166352048 | OCA2 | c.2245-16T= (n.2245-16T=) c.2173-16T= (n.2173-16T=) c.2311-16T= (n.2311-16T=) c.2287-16T= (n.2287-16T=) c.2269-16T= (n.2269-16T=) c.2239-16T= (n.2239-16T=) c.2197-16T= (n.2197-16T=) c.2104-16T= (n.2104-16T=) c.2116-16T= (n.2116-16T=) c.2268+19663T= (n.2268+19663T=) | |
15 | g.27851491A>G | CA7438674 | OCA2 | c.2245-16T>C (n.2245-16T>C) c.2173-16T>C (n.2173-16T>C) c.2311-16T>C (n.2311-16T>C) c.2287-16T>C (n.2287-16T>C) c.2269-16T>C (n.2269-16T>C) c.2239-16T>C (n.2239-16T>C) c.2197-16T>C (n.2197-16T>C) c.2104-16T>C (n.2104-16T>C) c.2116-16T>C (n.2116-16T>C) c.2268+19663T>C (n.2268+19663T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851492C= | CA2166352049 | OCA2 | c.2245-17G= (n.2245-17G=) c.2173-17G= (n.2173-17G=) c.2311-17G= (n.2311-17G=) c.2287-17G= (n.2287-17G=) c.2269-17G= (n.2269-17G=) c.2239-17G= (n.2239-17G=) c.2197-17G= (n.2197-17G=) c.2104-17G= (n.2104-17G=) c.2116-17G= (n.2116-17G=) c.2268+19662G= (n.2268+19662G=) | |
15 | g.27851492C>T | CA616702109 | OCA2 | c.2245-17G>A (n.2245-17G>A) c.2173-17G>A (n.2173-17G>A) c.2311-17G>A (n.2311-17G>A) c.2287-17G>A (n.2287-17G>A) c.2269-17G>A (n.2269-17G>A) c.2239-17G>A (n.2239-17G>A) c.2197-17G>A (n.2197-17G>A) c.2104-17G>A (n.2104-17G>A) c.2116-17G>A (n.2116-17G>A) c.2268+19662G>A (n.2268+19662G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.27851493A= | CA2166352050 | OCA2 | c.2245-18T= (n.2245-18T=) c.2173-18T= (n.2173-18T=) c.2311-18T= (n.2311-18T=) c.2287-18T= (n.2287-18T=) c.2269-18T= (n.2269-18T=) c.2239-18T= (n.2239-18T=) c.2197-18T= (n.2197-18T=) c.2104-18T= (n.2104-18T=) c.2116-18T= (n.2116-18T=) c.2268+19661T= (n.2268+19661T=) | |
15 | g.27851493A>G | CA7438675 | OCA2 | c.2245-18T>C (n.2245-18T>C) c.2173-18T>C (n.2173-18T>C) c.2311-18T>C (n.2311-18T>C) c.2287-18T>C (n.2287-18T>C) c.2269-18T>C (n.2269-18T>C) c.2239-18T>C (n.2239-18T>C) c.2197-18T>C (n.2197-18T>C) c.2104-18T>C (n.2104-18T>C) c.2116-18T>C (n.2116-18T>C) c.2268+19661T>C (n.2268+19661T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851493_27851494delinsAT | CA2166352051 | OCA2 | c.2245-19_2245-18delinsAT (n.2245-19_2245-18delinsAT) c.2173-19_2173-18delinsAT (n.2173-19_2173-18delinsAT) c.2311-19_2311-18delinsAT (n.2311-19_2311-18delinsAT) c.2287-19_2287-18delinsAT (n.2287-19_2287-18delinsAT) c.2269-19_2269-18delinsAT (n.2269-19_2269-18delinsAT) c.2239-19_2239-18delinsAT (n.2239-19_2239-18delinsAT) c.2197-19_2197-18delinsAT (n.2197-19_2197-18delinsAT) c.2104-19_2104-18delinsAT (n.2104-19_2104-18delinsAT) c.2116-19_2116-18delinsAT (n.2116-19_2116-18delinsAT) c.2268+19660_2268+19661delinsAT (n.2268+19660_2268+19661delinsAT) | |
15 | g.27851494T>A | CA2627378368 | OCA2 | c.2245-19A>T (n.2245-19A>T) c.2173-19A>T (n.2173-19A>T) c.2311-19A>T (n.2311-19A>T) c.2287-19A>T (n.2287-19A>T) c.2269-19A>T (n.2269-19A>T) c.2239-19A>T (n.2239-19A>T) c.2197-19A>T (n.2197-19A>T) c.2104-19A>T (n.2104-19A>T) c.2116-19A>T (n.2116-19A>T) c.2268+19660A>T (n.2268+19660A>T) | gnomAD v4 |
15 | g.27851494T>C | CA7438676 | OCA2 | c.2245-19A>G (n.2245-19A>G) c.2173-19A>G (n.2173-19A>G) c.2311-19A>G (n.2311-19A>G) c.2287-19A>G (n.2287-19A>G) c.2269-19A>G (n.2269-19A>G) c.2239-19A>G (n.2239-19A>G) c.2197-19A>G (n.2197-19A>G) c.2104-19A>G (n.2104-19A>G) c.2116-19A>G (n.2116-19A>G) c.2268+19660A>G (n.2268+19660A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851494T= | CA2166352052 | OCA2 | c.2245-19A= (n.2245-19A=) c.2173-19A= (n.2173-19A=) c.2311-19A= (n.2311-19A=) c.2287-19A= (n.2287-19A=) c.2269-19A= (n.2269-19A=) c.2239-19A= (n.2239-19A=) c.2197-19A= (n.2197-19A=) c.2104-19A= (n.2104-19A=) c.2116-19A= (n.2116-19A=) c.2268+19660A= (n.2268+19660A=) | |
15 | g.27851495del | CA616702114 | OCA2 | c.2245-19del (n.2245-19del) c.2173-19del (n.2173-19del) c.2311-19del (n.2311-19del) c.2287-19del (n.2287-19del) c.2269-19del (n.2269-19del) c.2239-19del (n.2239-19del) c.2197-19del (n.2197-19del) c.2104-19del (n.2104-19del) c.2116-19del (n.2116-19del) c.2268+19660del (n.2268+19660del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851495T>C | CA616702120 | OCA2 | c.2245-20A>G (n.2245-20A>G) c.2173-20A>G (n.2173-20A>G) c.2311-20A>G (n.2311-20A>G) c.2287-20A>G (n.2287-20A>G) c.2269-20A>G (n.2269-20A>G) c.2239-20A>G (n.2239-20A>G) c.2197-20A>G (n.2197-20A>G) c.2104-20A>G (n.2104-20A>G) c.2116-20A>G (n.2116-20A>G) c.2268+19659A>G (n.2268+19659A>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27851495T= | CA2166352053 | OCA2 | c.2245-20A= (n.2245-20A=) c.2173-20A= (n.2173-20A=) c.2311-20A= (n.2311-20A=) c.2287-20A= (n.2287-20A=) c.2269-20A= (n.2269-20A=) c.2239-20A= (n.2239-20A=) c.2197-20A= (n.2197-20A=) c.2104-20A= (n.2104-20A=) c.2116-20A= (n.2116-20A=) c.2268+19659A= (n.2268+19659A=) | |
15 | g.27851496G>T | CA2627378378 | OCA2 | c.2245-21C>A (n.2245-21C>A) c.2173-21C>A (n.2173-21C>A) c.2311-21C>A (n.2311-21C>A) c.2287-21C>A (n.2287-21C>A) c.2269-21C>A (n.2269-21C>A) c.2239-21C>A (n.2239-21C>A) c.2197-21C>A (n.2197-21C>A) c.2104-21C>A (n.2104-21C>A) c.2116-21C>A (n.2116-21C>A) c.2268+19658C>A (n.2268+19658C>A) | gnomAD v4 |
15 | g.27851498T>C | CA7438677 | OCA2 | c.2245-23A>G (n.2245-23A>G) c.2173-23A>G (n.2173-23A>G) c.2311-23A>G (n.2311-23A>G) c.2287-23A>G (n.2287-23A>G) c.2269-23A>G (n.2269-23A>G) c.2239-23A>G (n.2239-23A>G) c.2197-23A>G (n.2197-23A>G) c.2104-23A>G (n.2104-23A>G) c.2116-23A>G (n.2116-23A>G) c.2268+19656A>G (n.2268+19656A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27851498T= | CA2166352054 | OCA2 | c.2245-23A= (n.2245-23A=) c.2173-23A= (n.2173-23A=) c.2311-23A= (n.2311-23A=) c.2287-23A= (n.2287-23A=) c.2269-23A= (n.2269-23A=) c.2239-23A= (n.2239-23A=) c.2197-23A= (n.2197-23A=) c.2104-23A= (n.2104-23A=) c.2116-23A= (n.2116-23A=) c.2268+19656A= (n.2268+19656A=) | |
15 | g.27851499G>T | CA2627378381 | OCA2 | c.2245-24C>A (n.2245-24C>A) c.2173-24C>A (n.2173-24C>A) c.2311-24C>A (n.2311-24C>A) c.2287-24C>A (n.2287-24C>A) c.2269-24C>A (n.2269-24C>A) c.2239-24C>A (n.2239-24C>A) c.2197-24C>A (n.2197-24C>A) c.2104-24C>A (n.2104-24C>A) c.2116-24C>A (n.2116-24C>A) c.2268+19655C>A (n.2268+19655C>A) | gnomAD v4 |
15 | g.27851500C>A | CA616702122 | OCA2 | c.2245-25G>T (n.2245-25G>T) c.2173-25G>T (n.2173-25G>T) c.2311-25G>T (n.2311-25G>T) c.2287-25G>T (n.2287-25G>T) c.2269-25G>T (n.2269-25G>T) c.2239-25G>T (n.2239-25G>T) c.2197-25G>T (n.2197-25G>T) c.2104-25G>T (n.2104-25G>T) c.2116-25G>T (n.2116-25G>T) c.2268+19654G>T (n.2268+19654G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851500C= | CA2166352055 | OCA2 | c.2245-25G= (n.2245-25G=) c.2173-25G= (n.2173-25G=) c.2311-25G= (n.2311-25G=) c.2287-25G= (n.2287-25G=) c.2269-25G= (n.2269-25G=) c.2239-25G= (n.2239-25G=) c.2197-25G= (n.2197-25G=) c.2104-25G= (n.2104-25G=) c.2116-25G= (n.2116-25G=) c.2268+19654G= (n.2268+19654G=) | |
15 | g.27851500C>T | CA2627378388 | OCA2 | c.2245-25G>A (n.2245-25G>A) c.2173-25G>A (n.2173-25G>A) c.2311-25G>A (n.2311-25G>A) c.2287-25G>A (n.2287-25G>A) c.2269-25G>A (n.2269-25G>A) c.2239-25G>A (n.2239-25G>A) c.2197-25G>A (n.2197-25G>A) c.2104-25G>A (n.2104-25G>A) c.2116-25G>A (n.2116-25G>A) c.2268+19654G>A (n.2268+19654G>A) | gnomAD v4 |
15 | g.27851501del | CA2627378384 | OCA2 | c.2245-25del (n.2245-25del) c.2173-25del (n.2173-25del) c.2311-25del (n.2311-25del) c.2287-25del (n.2287-25del) c.2269-25del (n.2269-25del) c.2239-25del (n.2239-25del) c.2197-25del (n.2197-25del) c.2104-25del (n.2104-25del) c.2116-25del (n.2116-25del) c.2268+19654del (n.2268+19654del) | gnomAD v4 |
15 | g.27851501C>T | CA2627378389 | OCA2 | c.2245-26G>A (n.2245-26G>A) c.2173-26G>A (n.2173-26G>A) c.2311-26G>A (n.2311-26G>A) c.2287-26G>A (n.2287-26G>A) c.2269-26G>A (n.2269-26G>A) c.2239-26G>A (n.2239-26G>A) c.2197-26G>A (n.2197-26G>A) c.2104-26G>A (n.2104-26G>A) c.2116-26G>A (n.2116-26G>A) c.2268+19653G>A (n.2268+19653G>A) | gnomAD v4 |
15 | g.27851502A= | CA2166352056 | OCA2 | c.2245-27T= (n.2245-27T=) c.2173-27T= (n.2173-27T=) c.2311-27T= (n.2311-27T=) c.2287-27T= (n.2287-27T=) c.2269-27T= (n.2269-27T=) c.2239-27T= (n.2239-27T=) c.2197-27T= (n.2197-27T=) c.2104-27T= (n.2104-27T=) c.2116-27T= (n.2116-27T=) c.2268+19652T= (n.2268+19652T=) | |
15 | g.27851502A>G | CA616702123 | OCA2 | c.2245-27T>C (n.2245-27T>C) c.2173-27T>C (n.2173-27T>C) c.2311-27T>C (n.2311-27T>C) c.2287-27T>C (n.2287-27T>C) c.2269-27T>C (n.2269-27T>C) c.2239-27T>C (n.2239-27T>C) c.2197-27T>C (n.2197-27T>C) c.2104-27T>C (n.2104-27T>C) c.2116-27T>C (n.2116-27T>C) c.2268+19652T>C (n.2268+19652T>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27851502A>T | CA7438678 | OCA2 | c.2245-27T>A (n.2245-27T>A) c.2173-27T>A (n.2173-27T>A) c.2311-27T>A (n.2311-27T>A) c.2287-27T>A (n.2287-27T>A) c.2269-27T>A (n.2269-27T>A) c.2239-27T>A (n.2239-27T>A) c.2197-27T>A (n.2197-27T>A) c.2104-27T>A (n.2104-27T>A) c.2116-27T>A (n.2116-27T>A) c.2268+19652T>A (n.2268+19652T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851503C= | CA2166352057 | OCA2 | c.2245-28G= (n.2245-28G=) c.2173-28G= (n.2173-28G=) c.2311-28G= (n.2311-28G=) c.2287-28G= (n.2287-28G=) c.2269-28G= (n.2269-28G=) c.2239-28G= (n.2239-28G=) c.2197-28G= (n.2197-28G=) c.2104-28G= (n.2104-28G=) c.2116-28G= (n.2116-28G=) c.2268+19651G= (n.2268+19651G=) | |
15 | g.27851503C>T | CA267845311 | OCA2 | c.2245-28G>A (n.2245-28G>A) c.2173-28G>A (n.2173-28G>A) c.2311-28G>A (n.2311-28G>A) c.2287-28G>A (n.2287-28G>A) c.2269-28G>A (n.2269-28G>A) c.2239-28G>A (n.2239-28G>A) c.2197-28G>A (n.2197-28G>A) c.2104-28G>A (n.2104-28G>A) c.2116-28G>A (n.2116-28G>A) c.2268+19651G>A (n.2268+19651G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851504G>A | CA7438679 | OCA2 | c.2245-29C>T (n.2245-29C>T) c.2173-29C>T (n.2173-29C>T) c.2311-29C>T (n.2311-29C>T) c.2287-29C>T (n.2287-29C>T) c.2269-29C>T (n.2269-29C>T) c.2239-29C>T (n.2239-29C>T) c.2197-29C>T (n.2197-29C>T) c.2104-29C>T (n.2104-29C>T) c.2116-29C>T (n.2116-29C>T) c.2268+19650C>T (n.2268+19650C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.27851504G= | CA2166352058 | OCA2 | c.2245-29C= (n.2245-29C=) c.2173-29C= (n.2173-29C=) c.2311-29C= (n.2311-29C=) c.2287-29C= (n.2287-29C=) c.2269-29C= (n.2269-29C=) c.2239-29C= (n.2239-29C=) c.2197-29C= (n.2197-29C=) c.2104-29C= (n.2104-29C=) c.2116-29C= (n.2116-29C=) c.2268+19650C= (n.2268+19650C=) | |
15 | g.27851504G>T | CA2627378397 | OCA2 | c.2245-29C>A (n.2245-29C>A) c.2173-29C>A (n.2173-29C>A) c.2311-29C>A (n.2311-29C>A) c.2287-29C>A (n.2287-29C>A) c.2269-29C>A (n.2269-29C>A) c.2239-29C>A (n.2239-29C>A) c.2197-29C>A (n.2197-29C>A) c.2104-29C>A (n.2104-29C>A) c.2116-29C>A (n.2116-29C>A) c.2268+19650C>A (n.2268+19650C>A) | gnomAD v4 |
15 | g.27851505T>A | CA616702124 | OCA2 | c.2245-30A>T (n.2245-30A>T) c.2173-30A>T (n.2173-30A>T) c.2311-30A>T (n.2311-30A>T) c.2287-30A>T (n.2287-30A>T) c.2269-30A>T (n.2269-30A>T) c.2239-30A>T (n.2239-30A>T) c.2197-30A>T (n.2197-30A>T) c.2104-30A>T (n.2104-30A>T) c.2116-30A>T (n.2116-30A>T) c.2268+19649A>T (n.2268+19649A>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27851505T= | CA2166352059 | OCA2 | c.2245-30A= (n.2245-30A=) c.2173-30A= (n.2173-30A=) c.2311-30A= (n.2311-30A=) c.2287-30A= (n.2287-30A=) c.2269-30A= (n.2269-30A=) c.2239-30A= (n.2239-30A=) c.2197-30A= (n.2197-30A=) c.2104-30A= (n.2104-30A=) c.2116-30A= (n.2116-30A=) c.2268+19649A= (n.2268+19649A=) | |
15 | g.27851508del | CA2627378400 | OCA2 | c.2245-31del (n.2245-31del) c.2173-31del (n.2173-31del) c.2311-31del (n.2311-31del) c.2287-31del (n.2287-31del) c.2269-31del (n.2269-31del) c.2239-31del (n.2239-31del) c.2197-31del (n.2197-31del) c.2104-31del (n.2104-31del) c.2116-31del (n.2116-31del) c.2268+19648del (n.2268+19648del) | gnomAD v4 |
15 | g.27851507C>A | CA2575652859 | OCA2 | c.2245-32G>T (n.2245-32G>T) c.2173-32G>T (n.2173-32G>T) c.2311-32G>T (n.2311-32G>T) c.2287-32G>T (n.2287-32G>T) c.2269-32G>T (n.2269-32G>T) c.2239-32G>T (n.2239-32G>T) c.2197-32G>T (n.2197-32G>T) c.2104-32G>T (n.2104-32G>T) c.2116-32G>T (n.2116-32G>T) c.2268+19647G>T (n.2268+19647G>T) | |
15 | g.27851507C>G | CA2627378403 | OCA2 | c.2245-32G>C (n.2245-32G>C) c.2173-32G>C (n.2173-32G>C) c.2311-32G>C (n.2311-32G>C) c.2287-32G>C (n.2287-32G>C) c.2269-32G>C (n.2269-32G>C) c.2239-32G>C (n.2239-32G>C) c.2197-32G>C (n.2197-32G>C) c.2104-32G>C (n.2104-32G>C) c.2116-32G>C (n.2116-32G>C) c.2268+19647G>C (n.2268+19647G>C) | gnomAD v4 |
15 | g.27851507C>T | CA2575652860 | OCA2 | c.2245-32G>A (n.2245-32G>A) c.2173-32G>A (n.2173-32G>A) c.2311-32G>A (n.2311-32G>A) c.2287-32G>A (n.2287-32G>A) c.2269-32G>A (n.2269-32G>A) c.2239-32G>A (n.2239-32G>A) c.2197-32G>A (n.2197-32G>A) c.2104-32G>A (n.2104-32G>A) c.2116-32G>A (n.2116-32G>A) c.2268+19647G>A (n.2268+19647G>A) | |
15 | g.27851508C>T | CA2730557099 | OCA2 | c.2245-33G>A (n.2245-33G>A) c.2173-33G>A (n.2173-33G>A) c.2311-33G>A (n.2311-33G>A) c.2287-33G>A (n.2287-33G>A) c.2269-33G>A (n.2269-33G>A) c.2239-33G>A (n.2239-33G>A) c.2197-33G>A (n.2197-33G>A) c.2104-33G>A (n.2104-33G>A) c.2116-33G>A (n.2116-33G>A) c.2268+19646G>A (n.2268+19646G>A) | dbSNP |
15 | g.27851509A= | CA2166352060 | OCA2 | c.2245-34T= (n.2245-34T=) c.2173-34T= (n.2173-34T=) c.2311-34T= (n.2311-34T=) c.2287-34T= (n.2287-34T=) c.2269-34T= (n.2269-34T=) c.2239-34T= (n.2239-34T=) c.2197-34T= (n.2197-34T=) c.2104-34T= (n.2104-34T=) c.2116-34T= (n.2116-34T=) c.2268+19645T= (n.2268+19645T=) | |
15 | g.27851509A>C | CA267845337 | OCA2 | c.2245-34T>G (n.2245-34T>G) c.2173-34T>G (n.2173-34T>G) c.2311-34T>G (n.2311-34T>G) c.2287-34T>G (n.2287-34T>G) c.2269-34T>G (n.2269-34T>G) c.2239-34T>G (n.2239-34T>G) c.2197-34T>G (n.2197-34T>G) c.2104-34T>G (n.2104-34T>G) c.2116-34T>G (n.2116-34T>G) c.2268+19645T>G (n.2268+19645T>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27851509A>G | CA7438680 | OCA2 | c.2245-34T>C (n.2245-34T>C) c.2173-34T>C (n.2173-34T>C) c.2311-34T>C (n.2311-34T>C) c.2287-34T>C (n.2287-34T>C) c.2269-34T>C (n.2269-34T>C) c.2239-34T>C (n.2239-34T>C) c.2197-34T>C (n.2197-34T>C) c.2104-34T>C (n.2104-34T>C) c.2116-34T>C (n.2116-34T>C) c.2268+19645T>C (n.2268+19645T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851510T>A | CA711710339 | OCA2 | c.2245-35A>T (n.2245-35A>T) c.2173-35A>T (n.2173-35A>T) c.2311-35A>T (n.2311-35A>T) c.2287-35A>T (n.2287-35A>T) c.2269-35A>T (n.2269-35A>T) c.2239-35A>T (n.2239-35A>T) c.2197-35A>T (n.2197-35A>T) c.2104-35A>T (n.2104-35A>T) c.2116-35A>T (n.2116-35A>T) c.2268+19644A>T (n.2268+19644A>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.27851510T>C | CA7438681 | OCA2 | c.2245-35A>G (n.2245-35A>G) c.2173-35A>G (n.2173-35A>G) c.2311-35A>G (n.2311-35A>G) c.2287-35A>G (n.2287-35A>G) c.2269-35A>G (n.2269-35A>G) c.2239-35A>G (n.2239-35A>G) c.2197-35A>G (n.2197-35A>G) c.2104-35A>G (n.2104-35A>G) c.2116-35A>G (n.2116-35A>G) c.2268+19644A>G (n.2268+19644A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851510T= | CA2166352061 | OCA2 | c.2245-35A= (n.2245-35A=) c.2173-35A= (n.2173-35A=) c.2311-35A= (n.2311-35A=) c.2287-35A= (n.2287-35A=) c.2269-35A= (n.2269-35A=) c.2239-35A= (n.2239-35A=) c.2197-35A= (n.2197-35A=) c.2104-35A= (n.2104-35A=) c.2116-35A= (n.2116-35A=) c.2268+19644A= (n.2268+19644A=) | |
15 | g.27851511G>A | CA2627378421 | OCA2 | c.2245-36C>T (n.2245-36C>T) c.2173-36C>T (n.2173-36C>T) c.2311-36C>T (n.2311-36C>T) c.2287-36C>T (n.2287-36C>T) c.2269-36C>T (n.2269-36C>T) c.2239-36C>T (n.2239-36C>T) c.2197-36C>T (n.2197-36C>T) c.2104-36C>T (n.2104-36C>T) c.2116-36C>T (n.2116-36C>T) c.2268+19643C>T (n.2268+19643C>T) | gnomAD v4 |
15 | g.27851511G>T | CA2575652861 | OCA2 | c.2245-36C>A (n.2245-36C>A) c.2173-36C>A (n.2173-36C>A) c.2311-36C>A (n.2311-36C>A) c.2287-36C>A (n.2287-36C>A) c.2269-36C>A (n.2269-36C>A) c.2239-36C>A (n.2239-36C>A) c.2197-36C>A (n.2197-36C>A) c.2104-36C>A (n.2104-36C>A) c.2116-36C>A (n.2116-36C>A) c.2268+19643C>A (n.2268+19643C>A) | |
15 | g.27851514C= | CA2166352062 | OCA2 | c.2245-39G= (n.2245-39G=) c.2173-39G= (n.2173-39G=) c.2311-39G= (n.2311-39G=) c.2287-39G= (n.2287-39G=) c.2269-39G= (n.2269-39G=) c.2239-39G= (n.2239-39G=) c.2197-39G= (n.2197-39G=) c.2104-39G= (n.2104-39G=) c.2116-39G= (n.2116-39G=) c.2268+19640G= (n.2268+19640G=) | |
15 | g.27851514C>T | CA7438682 | OCA2 | c.2245-39G>A (n.2245-39G>A) c.2173-39G>A (n.2173-39G>A) c.2311-39G>A (n.2311-39G>A) c.2287-39G>A (n.2287-39G>A) c.2269-39G>A (n.2269-39G>A) c.2239-39G>A (n.2239-39G>A) c.2197-39G>A (n.2197-39G>A) c.2104-39G>A (n.2104-39G>A) c.2116-39G>A (n.2116-39G>A) c.2268+19640G>A (n.2268+19640G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851515G>A | CA7438683 | OCA2 | c.2245-40C>T (n.2245-40C>T) c.2173-40C>T (n.2173-40C>T) c.2311-40C>T (n.2311-40C>T) c.2287-40C>T (n.2287-40C>T) c.2269-40C>T (n.2269-40C>T) c.2239-40C>T (n.2239-40C>T) c.2197-40C>T (n.2197-40C>T) c.2104-40C>T (n.2104-40C>T) c.2116-40C>T (n.2116-40C>T) c.2268+19639C>T (n.2268+19639C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851515G= | CA2166352063 | OCA2 | c.2245-40C= (n.2245-40C=) c.2173-40C= (n.2173-40C=) c.2311-40C= (n.2311-40C=) c.2287-40C= (n.2287-40C=) c.2269-40C= (n.2269-40C=) c.2239-40C= (n.2239-40C=) c.2197-40C= (n.2197-40C=) c.2104-40C= (n.2104-40C=) c.2116-40C= (n.2116-40C=) c.2268+19639C= (n.2268+19639C=) | |
15 | g.27851515G>T | CA2575652862 | OCA2 | c.2245-40C>A (n.2245-40C>A) c.2173-40C>A (n.2173-40C>A) c.2311-40C>A (n.2311-40C>A) c.2287-40C>A (n.2287-40C>A) c.2269-40C>A (n.2269-40C>A) c.2239-40C>A (n.2239-40C>A) c.2197-40C>A (n.2197-40C>A) c.2104-40C>A (n.2104-40C>A) c.2116-40C>A (n.2116-40C>A) c.2268+19639C>A (n.2268+19639C>A) | gnomAD v4 |
15 | g.27851520G>T | CA2627378434 | OCA2 | c.2245-45C>A (n.2245-45C>A) c.2173-45C>A (n.2173-45C>A) c.2311-45C>A (n.2311-45C>A) c.2287-45C>A (n.2287-45C>A) c.2269-45C>A (n.2269-45C>A) c.2239-45C>A (n.2239-45C>A) c.2197-45C>A (n.2197-45C>A) c.2104-45C>A (n.2104-45C>A) c.2116-45C>A (n.2116-45C>A) c.2268+19634C>A (n.2268+19634C>A) | gnomAD v4 |
15 | g.27851522G>A | CA2575652863 | OCA2 | c.2245-47C>T (n.2245-47C>T) c.2173-47C>T (n.2173-47C>T) c.2311-47C>T (n.2311-47C>T) c.2287-47C>T (n.2287-47C>T) c.2269-47C>T (n.2269-47C>T) c.2239-47C>T (n.2239-47C>T) c.2197-47C>T (n.2197-47C>T) c.2104-47C>T (n.2104-47C>T) c.2116-47C>T (n.2116-47C>T) c.2268+19632C>T (n.2268+19632C>T) | gnomAD v4 |
15 | g.27851523A= | CA2166352064 | OCA2 | c.2245-48T= (n.2245-48T=) c.2173-48T= (n.2173-48T=) c.2311-48T= (n.2311-48T=) c.2287-48T= (n.2287-48T=) c.2269-48T= (n.2269-48T=) c.2239-48T= (n.2239-48T=) c.2197-48T= (n.2197-48T=) c.2104-48T= (n.2104-48T=) c.2116-48T= (n.2116-48T=) c.2268+19631T= (n.2268+19631T=) | |
15 | g.27851523A>G | CA2166352065 | OCA2 | c.2245-48T>C (n.2245-48T>C) c.2173-48T>C (n.2173-48T>C) c.2311-48T>C (n.2311-48T>C) c.2287-48T>C (n.2287-48T>C) c.2269-48T>C (n.2269-48T>C) c.2239-48T>C (n.2239-48T>C) c.2197-48T>C (n.2197-48T>C) c.2104-48T>C (n.2104-48T>C) c.2116-48T>C (n.2116-48T>C) c.2268+19631T>C (n.2268+19631T>C) | dbSNP |