Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.27851387A>C | CA391359837 | OCA2 | c.2333T>G (p.Leu778Arg) c.2261T>G (p.Leu754Arg) c.2399T>G (p.Leu800Arg) c.2375T>G (p.Leu792Arg) c.2357T>G (p.Leu786Arg) c.2327T>G (p.Leu776Arg) c.2285T>G (p.Leu762Arg) c.2192T>G (p.Leu731Arg) c.2204T>G (p.Leu735Arg) c.2268+19767T>G (n.2268+19767T>G) | |
15 | g.27851387A>G | CA391359840 | OCA2 | c.2333T>C (p.Leu778Pro) c.2261T>C (p.Leu754Pro) c.2399T>C (p.Leu800Pro) c.2375T>C (p.Leu792Pro) c.2357T>C (p.Leu786Pro) c.2327T>C (p.Leu776Pro) c.2285T>C (p.Leu762Pro) c.2192T>C (p.Leu731Pro) c.2204T>C (p.Leu735Pro) c.2268+19767T>C (n.2268+19767T>C) | |
15 | g.27851387A>T | CA391359844 | OCA2 | c.2333T>A (p.Leu778Gln) c.2261T>A (p.Leu754Gln) c.2399T>A (p.Leu800Gln) c.2375T>A (p.Leu792Gln) c.2357T>A (p.Leu786Gln) c.2327T>A (p.Leu776Gln) c.2285T>A (p.Leu762Gln) c.2192T>A (p.Leu731Gln) c.2204T>A (p.Leu735Gln) c.2268+19767T>A (n.2268+19767T>A) | |
15 | g.27851388G>A | CA488959017 | OCA2 | c.2332C>T (p.Leu778=) c.2260C>T (p.Leu754=) c.2398C>T (p.Leu800=) c.2374C>T (p.Leu792=) c.2356C>T (p.Leu786=) c.2326C>T (p.Leu776=) c.2284C>T (p.Leu762=) c.2191C>T (p.Leu731=) c.2203C>T (p.Leu735=) c.2268+19766C>T (n.2268+19766C>T) | |
15 | g.27851388G>C | CA391359848 | OCA2 | c.2332C>G (p.Leu778Val) c.2260C>G (p.Leu754Val) c.2398C>G (p.Leu800Val) c.2374C>G (p.Leu792Val) c.2356C>G (p.Leu786Val) c.2326C>G (p.Leu776Val) c.2284C>G (p.Leu762Val) c.2191C>G (p.Leu731Val) c.2203C>G (p.Leu735Val) c.2268+19766C>G (n.2268+19766C>G) | |
15 | g.27851388G>T | CA391359852 | OCA2 | c.2332C>A (p.Leu778Met) c.2260C>A (p.Leu754Met) c.2398C>A (p.Leu800Met) c.2374C>A (p.Leu792Met) c.2356C>A (p.Leu786Met) c.2326C>A (p.Leu776Met) c.2284C>A (p.Leu762Met) c.2191C>A (p.Leu731Met) c.2203C>A (p.Leu735Met) c.2268+19766C>A (n.2268+19766C>A) | |
15 | g.27851389G>A | CA488959018 | OCA2 | c.2331C>T (p.Cys777=) c.2259C>T (p.Cys753=) c.2397C>T (p.Cys799=) c.2373C>T (p.Cys791=) c.2355C>T (p.Cys785=) c.2325C>T (p.Cys775=) c.2283C>T (p.Cys761=) c.2190C>T (p.Cys730=) c.2202C>T (p.Cys734=) c.2268+19765C>T (n.2268+19765C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.27851389G>C | CA391359853 | OCA2 | c.2331C>G (p.Cys777Trp) c.2259C>G (p.Cys753Trp) c.2397C>G (p.Cys799Trp) c.2373C>G (p.Cys791Trp) c.2355C>G (p.Cys785Trp) c.2325C>G (p.Cys775Trp) c.2283C>G (p.Cys761Trp) c.2190C>G (p.Cys730Trp) c.2202C>G (p.Cys734Trp) c.2268+19765C>G (n.2268+19765C>G) | |
15 | g.27851389G= | CA2166351988 | OCA2 | c.2331C= (p.Cys777=) c.2259C= (p.Cys753=) c.2397C= (p.Cys799=) c.2373C= (p.Cys791=) c.2355C= (p.Cys785=) c.2325C= (p.Cys775=) c.2283C= (p.Cys761=) c.2190C= (p.Cys730=) c.2202C= (p.Cys734=) c.2268+19765C= (n.2268+19765C=) | |
15 | g.27851389G>T | CA391359854 | OCA2 | c.2331C>A (p.Cys777Ter) c.2259C>A (p.Cys753Ter) c.2397C>A (p.Cys799Ter) c.2373C>A (p.Cys791Ter) c.2355C>A (p.Cys785Ter) c.2325C>A (p.Cys775Ter) c.2283C>A (p.Cys761Ter) c.2190C>A (p.Cys730Ter) c.2202C>A (p.Cys734Ter) c.2268+19765C>A (n.2268+19765C>A) | |
15 | g.27851390C>A | CA391359857 | OCA2 | c.2330G>T (p.Cys777Phe) c.2258G>T (p.Cys753Phe) c.2396G>T (p.Cys799Phe) c.2372G>T (p.Cys791Phe) c.2354G>T (p.Cys785Phe) c.2324G>T (p.Cys775Phe) c.2282G>T (p.Cys761Phe) c.2189G>T (p.Cys730Phe) c.2201G>T (p.Cys734Phe) c.2268+19764G>T (n.2268+19764G>T) | |
15 | g.27851390C= | CA2166351989 | OCA2 | c.2330G= (p.Cys777=) c.2258G= (p.Cys753=) c.2396G= (p.Cys799=) c.2372G= (p.Cys791=) c.2354G= (p.Cys785=) c.2324G= (p.Cys775=) c.2282G= (p.Cys761=) c.2189G= (p.Cys730=) c.2201G= (p.Cys734=) c.2268+19764G= (n.2268+19764G=) | |
15 | g.27851390C>G | CA391359860 | OCA2 | c.2330G>C (p.Cys777Ser) c.2258G>C (p.Cys753Ser) c.2396G>C (p.Cys799Ser) c.2372G>C (p.Cys791Ser) c.2354G>C (p.Cys785Ser) c.2324G>C (p.Cys775Ser) c.2282G>C (p.Cys761Ser) c.2189G>C (p.Cys730Ser) c.2201G>C (p.Cys734Ser) c.2268+19764G>C (n.2268+19764G>C) | |
15 | g.27851390C>T | CA7438634 | OCA2 | c.2330G>A (p.Cys777Tyr) c.2258G>A (p.Cys753Tyr) c.2396G>A (p.Cys799Tyr) c.2372G>A (p.Cys791Tyr) c.2354G>A (p.Cys785Tyr) c.2324G>A (p.Cys775Tyr) c.2282G>A (p.Cys761Tyr) c.2189G>A (p.Cys730Tyr) c.2201G>A (p.Cys734Tyr) c.2268+19764G>A (n.2268+19764G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851391A>C | CA391359868 | OCA2 | c.2329T>G (p.Cys777Gly) c.2257T>G (p.Cys753Gly) c.2395T>G (p.Cys799Gly) c.2371T>G (p.Cys791Gly) c.2353T>G (p.Cys785Gly) c.2323T>G (p.Cys775Gly) c.2281T>G (p.Cys761Gly) c.2188T>G (p.Cys730Gly) c.2200T>G (p.Cys734Gly) c.2268+19763T>G (n.2268+19763T>G) | |
15 | g.27851391A>G | CA391359872 | OCA2 | c.2329T>C (p.Cys777Arg) c.2257T>C (p.Cys753Arg) c.2395T>C (p.Cys799Arg) c.2371T>C (p.Cys791Arg) c.2353T>C (p.Cys785Arg) c.2323T>C (p.Cys775Arg) c.2281T>C (p.Cys761Arg) c.2188T>C (p.Cys730Arg) c.2200T>C (p.Cys734Arg) c.2268+19763T>C (n.2268+19763T>C) | |
15 | g.27851391A>T | CA391359876 | OCA2 | c.2329T>A (p.Cys777Ser) c.2257T>A (p.Cys753Ser) c.2395T>A (p.Cys799Ser) c.2371T>A (p.Cys791Ser) c.2353T>A (p.Cys785Ser) c.2323T>A (p.Cys775Ser) c.2281T>A (p.Cys761Ser) c.2188T>A (p.Cys730Ser) c.2200T>A (p.Cys734Ser) c.2268+19763T>A (n.2268+19763T>A) | |
15 | g.27851392A= | CA2166351990 | OCA2 | c.2328T= (p.Ala776=) c.2256T= (p.Ala752=) c.2394T= (p.Ala798=) c.2370T= (p.Ala790=) c.2352T= (p.Ala784=) c.2322T= (p.Ala774=) c.2280T= (p.Ala760=) c.2187T= (p.Ala729=) c.2199T= (p.Ala733=) c.2268+19762T= (n.2268+19762T=) | |
15 | g.27851392A>C | CA488959020 | OCA2 | c.2328T>G (p.Ala776=) c.2256T>G (p.Ala752=) c.2394T>G (p.Ala798=) c.2370T>G (p.Ala790=) c.2352T>G (p.Ala784=) c.2322T>G (p.Ala774=) c.2280T>G (p.Ala760=) c.2187T>G (p.Ala729=) c.2199T>G (p.Ala733=) c.2268+19762T>G (n.2268+19762T>G) | dbSNP |
15 | g.27851392A>G | CA201867 | OCA2 | c.2328T>C (p.Ala776=) c.2256T>C (p.Ala752=) c.2394T>C (p.Ala798=) c.2370T>C (p.Ala790=) c.2352T>C (p.Ala784=) c.2322T>C (p.Ala774=) c.2280T>C (p.Ala760=) c.2187T>C (p.Ala729=) c.2199T>C (p.Ala733=) c.2268+19762T>C (n.2268+19762T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851392A>T | CA488959019 | OCA2 | c.2328T>A (p.Ala776=) c.2256T>A (p.Ala752=) c.2394T>A (p.Ala798=) c.2370T>A (p.Ala790=) c.2352T>A (p.Ala784=) c.2322T>A (p.Ala774=) c.2280T>A (p.Ala760=) c.2187T>A (p.Ala729=) c.2199T>A (p.Ala733=) c.2268+19762T>A (n.2268+19762T>A) | gnomAD v4 |
15 | g.27851393G>A | CA7438635 | OCA2 | c.2327C>T (p.Ala776Val) c.2255C>T (p.Ala752Val) c.2393C>T (p.Ala798Val) c.2369C>T (p.Ala790Val) c.2351C>T (p.Ala784Val) c.2321C>T (p.Ala774Val) c.2279C>T (p.Ala760Val) c.2186C>T (p.Ala729Val) c.2198C>T (p.Ala733Val) c.2268+19761C>T (n.2268+19761C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851393G>C | CA391359896 | OCA2 | c.2327C>G (p.Ala776Gly) c.2255C>G (p.Ala752Gly) c.2393C>G (p.Ala798Gly) c.2369C>G (p.Ala790Gly) c.2351C>G (p.Ala784Gly) c.2321C>G (p.Ala774Gly) c.2279C>G (p.Ala760Gly) c.2186C>G (p.Ala729Gly) c.2198C>G (p.Ala733Gly) c.2268+19761C>G (n.2268+19761C>G) | COSMIC |
15 | g.27851393G= | CA2166351991 | OCA2 | c.2327C= (p.Ala776=) c.2255C= (p.Ala752=) c.2393C= (p.Ala798=) c.2369C= (p.Ala790=) c.2351C= (p.Ala784=) c.2321C= (p.Ala774=) c.2279C= (p.Ala760=) c.2186C= (p.Ala729=) c.2198C= (p.Ala733=) c.2268+19761C= (n.2268+19761C=) | |
15 | g.27851393G>T | CA391359887 | OCA2 | c.2327C>A (p.Ala776Asp) c.2255C>A (p.Ala752Asp) c.2393C>A (p.Ala798Asp) c.2369C>A (p.Ala790Asp) c.2351C>A (p.Ala784Asp) c.2321C>A (p.Ala774Asp) c.2279C>A (p.Ala760Asp) c.2186C>A (p.Ala729Asp) c.2198C>A (p.Ala733Asp) c.2268+19761C>A (n.2268+19761C>A) | ClinVar |
15 | g.27851394C>A | CA391359899 | OCA2 | c.2326G>T (p.Ala776Ser) c.2254G>T (p.Ala752Ser) c.2392G>T (p.Ala798Ser) c.2368G>T (p.Ala790Ser) c.2350G>T (p.Ala784Ser) c.2320G>T (p.Ala774Ser) c.2278G>T (p.Ala760Ser) c.2185G>T (p.Ala729Ser) c.2197G>T (p.Ala733Ser) c.2268+19760G>T (n.2268+19760G>T) | |
15 | g.27851394C>G | CA391359900 | OCA2 | c.2326G>C (p.Ala776Pro) c.2254G>C (p.Ala752Pro) c.2392G>C (p.Ala798Pro) c.2368G>C (p.Ala790Pro) c.2350G>C (p.Ala784Pro) c.2320G>C (p.Ala774Pro) c.2278G>C (p.Ala760Pro) c.2185G>C (p.Ala729Pro) c.2197G>C (p.Ala733Pro) c.2268+19760G>C (n.2268+19760G>C) | |
15 | g.27851394C>T | CA391359902 | OCA2 | c.2326G>A (p.Ala776Thr) c.2254G>A (p.Ala752Thr) c.2392G>A (p.Ala798Thr) c.2368G>A (p.Ala790Thr) c.2350G>A (p.Ala784Thr) c.2320G>A (p.Ala774Thr) c.2278G>A (p.Ala760Thr) c.2185G>A (p.Ala729Thr) c.2197G>A (p.Ala733Thr) c.2268+19760G>A (n.2268+19760G>A) | |
15 | g.27851395A>C | CA488959026 | OCA2 | c.2325T>G (p.Gly775=) c.2253T>G (p.Gly751=) c.2391T>G (p.Gly797=) c.2367T>G (p.Gly789=) c.2349T>G (p.Gly783=) c.2319T>G (p.Gly773=) c.2277T>G (p.Gly759=) c.2184T>G (p.Gly728=) c.2196T>G (p.Gly732=) c.2268+19759T>G (n.2268+19759T>G) | |
15 | g.27851395A>G | CA488959024 | OCA2 | c.2325T>C (p.Gly775=) c.2253T>C (p.Gly751=) c.2391T>C (p.Gly797=) c.2367T>C (p.Gly789=) c.2349T>C (p.Gly783=) c.2319T>C (p.Gly773=) c.2277T>C (p.Gly759=) c.2184T>C (p.Gly728=) c.2196T>C (p.Gly732=) c.2268+19759T>C (n.2268+19759T>C) | |
15 | g.27851395A>T | CA488959022 | OCA2 | c.2325T>A (p.Gly775=) c.2253T>A (p.Gly751=) c.2391T>A (p.Gly797=) c.2367T>A (p.Gly789=) c.2349T>A (p.Gly783=) c.2319T>A (p.Gly773=) c.2277T>A (p.Gly759=) c.2184T>A (p.Gly728=) c.2196T>A (p.Gly732=) c.2268+19759T>A (n.2268+19759T>A) | |
15 | g.27851396C>A | CA391359907 | OCA2 | c.2324G>T (p.Gly775Val) c.2252G>T (p.Gly751Val) c.2390G>T (p.Gly797Val) c.2366G>T (p.Gly789Val) c.2348G>T (p.Gly783Val) c.2318G>T (p.Gly773Val) c.2276G>T (p.Gly759Val) c.2183G>T (p.Gly728Val) c.2195G>T (p.Gly732Val) c.2268+19758G>T (n.2268+19758G>T) | |
15 | g.27851396C= | CA2166351992 | OCA2 | c.2324G= (p.Gly775=) c.2252G= (p.Gly751=) c.2390G= (p.Gly797=) c.2366G= (p.Gly789=) c.2348G= (p.Gly783=) c.2318G= (p.Gly773=) c.2276G= (p.Gly759=) c.2183G= (p.Gly728=) c.2195G= (p.Gly732=) c.2268+19758G= (n.2268+19758G=) | |
15 | g.27851396C>G | CA391359910 | OCA2 | c.2324G>C (p.Gly775Ala) c.2252G>C (p.Gly751Ala) c.2390G>C (p.Gly797Ala) c.2366G>C (p.Gly789Ala) c.2348G>C (p.Gly783Ala) c.2318G>C (p.Gly773Ala) c.2276G>C (p.Gly759Ala) c.2183G>C (p.Gly728Ala) c.2195G>C (p.Gly732Ala) c.2268+19758G>C (n.2268+19758G>C) | |
15 | g.27851396C>T | CA267845036 | OCA2 | c.2324G>A (p.Gly775Asp) c.2252G>A (p.Gly751Asp) c.2390G>A (p.Gly797Asp) c.2366G>A (p.Gly789Asp) c.2348G>A (p.Gly783Asp) c.2318G>A (p.Gly773Asp) c.2276G>A (p.Gly759Asp) c.2183G>A (p.Gly728Asp) c.2195G>A (p.Gly732Asp) c.2268+19758G>A (n.2268+19758G>A) | ClinVar dbSNP |
15 | g.27851397C>A | CA391359920 | OCA2 | c.2323G>T (p.Gly775Cys) c.2251G>T (p.Gly751Cys) c.2389G>T (p.Gly797Cys) c.2365G>T (p.Gly789Cys) c.2347G>T (p.Gly783Cys) c.2317G>T (p.Gly773Cys) c.2275G>T (p.Gly759Cys) c.2182G>T (p.Gly728Cys) c.2194G>T (p.Gly732Cys) c.2268+19757G>T (n.2268+19757G>T) | |
15 | g.27851397C= | CA2166351993 | OCA2 | c.2323G= (p.Gly775=) c.2251G= (p.Gly751=) c.2389G= (p.Gly797=) c.2365G= (p.Gly789=) c.2347G= (p.Gly783=) c.2317G= (p.Gly773=) c.2275G= (p.Gly759=) c.2182G= (p.Gly728=) c.2194G= (p.Gly732=) c.2268+19757G= (n.2268+19757G=) | |
15 | g.27851397C>G | CA391359924 | OCA2 | c.2323G>C (p.Gly775Arg) c.2251G>C (p.Gly751Arg) c.2389G>C (p.Gly797Arg) c.2365G>C (p.Gly789Arg) c.2347G>C (p.Gly783Arg) c.2317G>C (p.Gly773Arg) c.2275G>C (p.Gly759Arg) c.2182G>C (p.Gly728Arg) c.2194G>C (p.Gly732Arg) c.2268+19757G>C (n.2268+19757G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.27851397C>T | CA7438636 | OCA2 | c.2323G>A (p.Gly775Ser) c.2251G>A (p.Gly751Ser) c.2389G>A (p.Gly797Ser) c.2365G>A (p.Gly789Ser) c.2347G>A (p.Gly783Ser) c.2317G>A (p.Gly773Ser) c.2275G>A (p.Gly759Ser) c.2182G>A (p.Gly728Ser) c.2194G>A (p.Gly732Ser) c.2268+19757G>A (n.2268+19757G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851398G>A | CA7438637 | OCA2 | c.2322C>T (p.Phe774=) c.2250C>T (p.Phe750=) c.2388C>T (p.Phe796=) c.2364C>T (p.Phe788=) c.2346C>T (p.Phe782=) c.2316C>T (p.Phe772=) c.2274C>T (p.Phe758=) c.2181C>T (p.Phe727=) c.2193C>T (p.Phe731=) c.2268+19756C>T (n.2268+19756C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851398G>C | CA391359935 | OCA2 | c.2322C>G (p.Phe774Leu) c.2250C>G (p.Phe750Leu) c.2388C>G (p.Phe796Leu) c.2364C>G (p.Phe788Leu) c.2346C>G (p.Phe782Leu) c.2316C>G (p.Phe772Leu) c.2274C>G (p.Phe758Leu) c.2181C>G (p.Phe727Leu) c.2193C>G (p.Phe731Leu) c.2268+19756C>G (n.2268+19756C>G) | |
15 | g.27851398G= | CA2166351994 | OCA2 | c.2322C= (p.Phe774=) c.2250C= (p.Phe750=) c.2388C= (p.Phe796=) c.2364C= (p.Phe788=) c.2346C= (p.Phe782=) c.2316C= (p.Phe772=) c.2274C= (p.Phe758=) c.2181C= (p.Phe727=) c.2193C= (p.Phe731=) c.2268+19756C= (n.2268+19756C=) | |
15 | g.27851398G>T | CA7438638 | OCA2 | c.2322C>A (p.Phe774Leu) c.2250C>A (p.Phe750Leu) c.2388C>A (p.Phe796Leu) c.2364C>A (p.Phe788Leu) c.2346C>A (p.Phe782Leu) c.2316C>A (p.Phe772Leu) c.2274C>A (p.Phe758Leu) c.2181C>A (p.Phe727Leu) c.2193C>A (p.Phe731Leu) c.2268+19756C>A (n.2268+19756C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27851399A>C | CA391359953 | OCA2 | c.2321T>G (p.Phe774Cys) c.2249T>G (p.Phe750Cys) c.2387T>G (p.Phe796Cys) c.2363T>G (p.Phe788Cys) c.2345T>G (p.Phe782Cys) c.2315T>G (p.Phe772Cys) c.2273T>G (p.Phe758Cys) c.2180T>G (p.Phe727Cys) c.2192T>G (p.Phe731Cys) c.2268+19755T>G (n.2268+19755T>G) | |
15 | g.27851399A>G | CA391359948 | OCA2 | c.2321T>C (p.Phe774Ser) c.2249T>C (p.Phe750Ser) c.2387T>C (p.Phe796Ser) c.2363T>C (p.Phe788Ser) c.2345T>C (p.Phe782Ser) c.2315T>C (p.Phe772Ser) c.2273T>C (p.Phe758Ser) c.2180T>C (p.Phe727Ser) c.2192T>C (p.Phe731Ser) c.2268+19755T>C (n.2268+19755T>C) | |
15 | g.27851399A>T | CA391359944 | OCA2 | c.2321T>A (p.Phe774Tyr) c.2249T>A (p.Phe750Tyr) c.2387T>A (p.Phe796Tyr) c.2363T>A (p.Phe788Tyr) c.2345T>A (p.Phe782Tyr) c.2315T>A (p.Phe772Tyr) c.2273T>A (p.Phe758Tyr) c.2180T>A (p.Phe727Tyr) c.2192T>A (p.Phe731Tyr) c.2268+19755T>A (n.2268+19755T>A) | |
15 | g.27851400A>C | CA391359957 | OCA2 | c.2320T>G (p.Phe774Val) c.2248T>G (p.Phe750Val) c.2386T>G (p.Phe796Val) c.2362T>G (p.Phe788Val) c.2344T>G (p.Phe782Val) c.2314T>G (p.Phe772Val) c.2272T>G (p.Phe758Val) c.2179T>G (p.Phe727Val) c.2191T>G (p.Phe731Val) c.2268+19754T>G (n.2268+19754T>G) | |
15 | g.27851400A>G | CA391359961 | OCA2 | c.2320T>C (p.Phe774Leu) c.2248T>C (p.Phe750Leu) c.2386T>C (p.Phe796Leu) c.2362T>C (p.Phe788Leu) c.2344T>C (p.Phe782Leu) c.2314T>C (p.Phe772Leu) c.2272T>C (p.Phe758Leu) c.2179T>C (p.Phe727Leu) c.2191T>C (p.Phe731Leu) c.2268+19754T>C (n.2268+19754T>C) | |
15 | g.27851400A>T | CA391359962 | OCA2 | c.2320T>A (p.Phe774Ile) c.2248T>A (p.Phe750Ile) c.2386T>A (p.Phe796Ile) c.2362T>A (p.Phe788Ile) c.2344T>A (p.Phe782Ile) c.2314T>A (p.Phe772Ile) c.2272T>A (p.Phe758Ile) c.2179T>A (p.Phe727Ile) c.2191T>A (p.Phe731Ile) c.2268+19754T>A (n.2268+19754T>A) | |
15 | g.27851401G>A | CA488959030 | OCA2 | c.2319C>T (p.Ala773=) c.2247C>T (p.Ala749=) c.2385C>T (p.Ala795=) c.2361C>T (p.Ala787=) c.2343C>T (p.Ala781=) c.2313C>T (p.Ala771=) c.2271C>T (p.Ala757=) c.2178C>T (p.Ala726=) c.2190C>T (p.Ala730=) c.2268+19753C>T (n.2268+19753C>T) | |
15 | g.27851401G>C | CA488959031 | OCA2 | c.2319C>G (p.Ala773=) c.2247C>G (p.Ala749=) c.2385C>G (p.Ala795=) c.2361C>G (p.Ala787=) c.2343C>G (p.Ala781=) c.2313C>G (p.Ala771=) c.2271C>G (p.Ala757=) c.2178C>G (p.Ala726=) c.2190C>G (p.Ala730=) c.2268+19753C>G (n.2268+19753C>G) | gnomAD v4 |
15 | g.27851401G>T | CA488959033 | OCA2 | c.2319C>A (p.Ala773=) c.2247C>A (p.Ala749=) c.2385C>A (p.Ala795=) c.2361C>A (p.Ala787=) c.2343C>A (p.Ala781=) c.2313C>A (p.Ala771=) c.2271C>A (p.Ala757=) c.2178C>A (p.Ala726=) c.2190C>A (p.Ala730=) c.2268+19753C>A (n.2268+19753C>A) | |
15 | g.27851402G>A | CA391359963 | OCA2 | c.2318C>T (p.Ala773Val) c.2246C>T (p.Ala749Val) c.2384C>T (p.Ala795Val) c.2360C>T (p.Ala787Val) c.2342C>T (p.Ala781Val) c.2312C>T (p.Ala771Val) c.2270C>T (p.Ala757Val) c.2177C>T (p.Ala726Val) c.2189C>T (p.Ala730Val) c.2268+19752C>T (n.2268+19752C>T) | |
15 | g.27851402G>C | CA391359965 | OCA2 | c.2318C>G (p.Ala773Gly) c.2246C>G (p.Ala749Gly) c.2384C>G (p.Ala795Gly) c.2360C>G (p.Ala787Gly) c.2342C>G (p.Ala781Gly) c.2312C>G (p.Ala771Gly) c.2270C>G (p.Ala757Gly) c.2177C>G (p.Ala726Gly) c.2189C>G (p.Ala730Gly) c.2268+19752C>G (n.2268+19752C>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27851402G= | CA2166351995 | OCA2 | c.2318C= (p.Ala773=) c.2246C= (p.Ala749=) c.2384C= (p.Ala795=) c.2360C= (p.Ala787=) c.2342C= (p.Ala781=) c.2312C= (p.Ala771=) c.2270C= (p.Ala757=) c.2177C= (p.Ala726=) c.2189C= (p.Ala730=) c.2268+19752C= (n.2268+19752C=) | |
15 | g.27851402G>T | CA391359968 | OCA2 | c.2318C>A (p.Ala773Asp) c.2246C>A (p.Ala749Asp) c.2384C>A (p.Ala795Asp) c.2360C>A (p.Ala787Asp) c.2342C>A (p.Ala781Asp) c.2312C>A (p.Ala771Asp) c.2270C>A (p.Ala757Asp) c.2177C>A (p.Ala726Asp) c.2189C>A (p.Ala730Asp) c.2268+19752C>A (n.2268+19752C>A) | |
15 | g.27851403C>A | CA391359973 | OCA2 | c.2317G>T (p.Ala773Ser) c.2245G>T (p.Ala749Ser) c.2383G>T (p.Ala795Ser) c.2359G>T (p.Ala787Ser) c.2341G>T (p.Ala781Ser) c.2311G>T (p.Ala771Ser) c.2269G>T (p.Ala757Ser) c.2176G>T (p.Ala726Ser) c.2188G>T (p.Ala730Ser) c.2268+19751G>T (n.2268+19751G>T) | COSMIC |
15 | g.27851403C= | CA2166351996 | OCA2 | c.2317G= (p.Ala773=) c.2245G= (p.Ala749=) c.2383G= (p.Ala795=) c.2359G= (p.Ala787=) c.2341G= (p.Ala781=) c.2311G= (p.Ala771=) c.2269G= (p.Ala757=) c.2176G= (p.Ala726=) c.2188G= (p.Ala730=) c.2268+19751G= (n.2268+19751G=) | |
15 | g.27851403C>G | CA391359976 | OCA2 | c.2317G>C (p.Ala773Pro) c.2245G>C (p.Ala749Pro) c.2383G>C (p.Ala795Pro) c.2359G>C (p.Ala787Pro) c.2341G>C (p.Ala781Pro) c.2311G>C (p.Ala771Pro) c.2269G>C (p.Ala757Pro) c.2176G>C (p.Ala726Pro) c.2188G>C (p.Ala730Pro) c.2268+19751G>C (n.2268+19751G>C) | |
15 | g.27851403C>T | CA391359980 | OCA2 | c.2317G>A (p.Ala773Thr) c.2245G>A (p.Ala749Thr) c.2383G>A (p.Ala795Thr) c.2359G>A (p.Ala787Thr) c.2341G>A (p.Ala781Thr) c.2311G>A (p.Ala771Thr) c.2269G>A (p.Ala757Thr) c.2176G>A (p.Ala726Thr) c.2188G>A (p.Ala730Thr) c.2268+19751G>A (n.2268+19751G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.27851404del | CA2697554281 | OCA2 | c.2317del (p.Ala773ProfsTer12) c.2245del (p.Ala749ProfsTer12) c.2383del (p.Ala795ProfsTer12) c.2359del (p.Ala787ProfsTer12) c.2341del (p.Ala781ProfsTer12) c.2311del (p.Ala771ProfsTer12) c.2269del (p.Ala757ProfsTer12) c.2176del (p.Ala726ProfsTer12) c.2188del (p.Ala730ProfsTer12) c.2268+19751del (n.2268+19751del) | ClinVar |
15 | g.27851404C>A | CA488959036 | OCA2 | c.2316G>T (p.Leu772=) c.2244G>T (p.Leu748=) c.2382G>T (p.Leu794=) c.2358G>T (p.Leu786=) c.2340G>T (p.Leu780=) c.2310G>T (p.Leu770=) c.2268G>T (p.Leu756=) c.2175G>T (p.Leu725=) c.2187G>T (p.Leu729=) c.2268+19750G>T (n.2268+19750G>T) | |
15 | g.27851404C>G | CA488959037 | OCA2 | c.2316G>C (p.Leu772=) c.2244G>C (p.Leu748=) c.2382G>C (p.Leu794=) c.2358G>C (p.Leu786=) c.2340G>C (p.Leu780=) c.2310G>C (p.Leu770=) c.2268G>C (p.Leu756=) c.2175G>C (p.Leu725=) c.2187G>C (p.Leu729=) c.2268+19750G>C (n.2268+19750G>C) | gnomAD v4 |
15 | g.27851404C>T | CA488959039 | OCA2 | c.2316G>A (p.Leu772=) c.2244G>A (p.Leu748=) c.2382G>A (p.Leu794=) c.2358G>A (p.Leu786=) c.2340G>A (p.Leu780=) c.2310G>A (p.Leu770=) c.2268G>A (p.Leu756=) c.2175G>A (p.Leu725=) c.2187G>A (p.Leu729=) c.2268+19750G>A (n.2268+19750G>A) | |
15 | g.27851405A>C | CA391359985 | OCA2 | c.2315T>G (p.Leu772Arg) c.2243T>G (p.Leu748Arg) c.2381T>G (p.Leu794Arg) c.2357T>G (p.Leu786Arg) c.2339T>G (p.Leu780Arg) c.2309T>G (p.Leu770Arg) c.2267T>G (p.Leu756Arg) c.2174T>G (p.Leu725Arg) c.2186T>G (p.Leu729Arg) c.2268+19749T>G (n.2268+19749T>G) | |
15 | g.27851405A>G | CA391359988 | OCA2 | c.2315T>C (p.Leu772Pro) c.2243T>C (p.Leu748Pro) c.2381T>C (p.Leu794Pro) c.2357T>C (p.Leu786Pro) c.2339T>C (p.Leu780Pro) c.2309T>C (p.Leu770Pro) c.2267T>C (p.Leu756Pro) c.2174T>C (p.Leu725Pro) c.2186T>C (p.Leu729Pro) c.2268+19749T>C (n.2268+19749T>C) | |
15 | g.27851405A>T | CA391359991 | OCA2 | c.2315T>A (p.Leu772Gln) c.2243T>A (p.Leu748Gln) c.2381T>A (p.Leu794Gln) c.2357T>A (p.Leu786Gln) c.2339T>A (p.Leu780Gln) c.2309T>A (p.Leu770Gln) c.2267T>A (p.Leu756Gln) c.2174T>A (p.Leu725Gln) c.2186T>A (p.Leu729Gln) c.2268+19749T>A (n.2268+19749T>A) | |
15 | g.27851406G>A | CA7438639 | OCA2 | c.2314C>T (p.Leu772=) c.2242C>T (p.Leu748=) c.2380C>T (p.Leu794=) c.2356C>T (p.Leu786=) c.2338C>T (p.Leu780=) c.2308C>T (p.Leu770=) c.2266C>T (p.Leu756=) c.2173C>T (p.Leu725=) c.2185C>T (p.Leu729=) c.2268+19748C>T (n.2268+19748C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27851406G>C | CA7438640 | OCA2 | c.2314C>G (p.Leu772Val) c.2242C>G (p.Leu748Val) c.2380C>G (p.Leu794Val) c.2356C>G (p.Leu786Val) c.2338C>G (p.Leu780Val) c.2308C>G (p.Leu770Val) c.2266C>G (p.Leu756Val) c.2173C>G (p.Leu725Val) c.2185C>G (p.Leu729Val) c.2268+19748C>G (n.2268+19748C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27851406G= | CA2166351997 | OCA2 | c.2314C= (p.Leu772=) c.2242C= (p.Leu748=) c.2380C= (p.Leu794=) c.2356C= (p.Leu786=) c.2338C= (p.Leu780=) c.2308C= (p.Leu770=) c.2266C= (p.Leu756=) c.2173C= (p.Leu725=) c.2185C= (p.Leu729=) c.2268+19748C= (n.2268+19748C=) | |
15 | g.27851406G>T | CA391359996 | OCA2 | c.2314C>A (p.Leu772Met) c.2242C>A (p.Leu748Met) c.2380C>A (p.Leu794Met) c.2356C>A (p.Leu786Met) c.2338C>A (p.Leu780Met) c.2308C>A (p.Leu770Met) c.2266C>A (p.Leu756Met) c.2173C>A (p.Leu725Met) c.2185C>A (p.Leu729Met) c.2268+19748C>A (n.2268+19748C>A) | |
15 | g.27851407G>A | CA7438641 | OCA2 | c.2313C>T (p.Ala771=) c.2241C>T (p.Ala747=) c.2379C>T (p.Ala793=) c.2355C>T (p.Ala785=) c.2337C>T (p.Ala779=) c.2307C>T (p.Ala769=) c.2265C>T (p.Ala755=) c.2172C>T (p.Ala724=) c.2184C>T (p.Ala728=) c.2268+19747C>T (n.2268+19747C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851407G>C | CA488959041 | OCA2 | c.2313C>G (p.Ala771=) c.2241C>G (p.Ala747=) c.2379C>G (p.Ala793=) c.2355C>G (p.Ala785=) c.2337C>G (p.Ala779=) c.2307C>G (p.Ala769=) c.2265C>G (p.Ala755=) c.2172C>G (p.Ala724=) c.2184C>G (p.Ala728=) c.2268+19747C>G (n.2268+19747C>G) | ClinVar gnomAD v4 |
15 | g.27851407G= | CA2166351998 | OCA2 | c.2313C= (p.Ala771=) c.2241C= (p.Ala747=) c.2379C= (p.Ala793=) c.2355C= (p.Ala785=) c.2337C= (p.Ala779=) c.2307C= (p.Ala769=) c.2265C= (p.Ala755=) c.2172C= (p.Ala724=) c.2184C= (p.Ala728=) c.2268+19747C= (n.2268+19747C=) | |
15 | g.27851407G>T | CA488959042 | OCA2 | c.2313C>A (p.Ala771=) c.2241C>A (p.Ala747=) c.2379C>A (p.Ala793=) c.2355C>A (p.Ala785=) c.2337C>A (p.Ala779=) c.2307C>A (p.Ala769=) c.2265C>A (p.Ala755=) c.2172C>A (p.Ala724=) c.2184C>A (p.Ala728=) c.2268+19747C>A (n.2268+19747C>A) | |
15 | g.27851408G>A | CA391360012 | OCA2 | c.2312C>T (p.Ala771Val) c.2240C>T (p.Ala747Val) c.2378C>T (p.Ala793Val) c.2354C>T (p.Ala785Val) c.2336C>T (p.Ala779Val) c.2306C>T (p.Ala769Val) c.2264C>T (p.Ala755Val) c.2171C>T (p.Ala724Val) c.2183C>T (p.Ala728Val) c.2268+19746C>T (n.2268+19746C>T) | gnomAD v4 COSMIC |
15 | g.27851408G>C | CA391360005 | OCA2 | c.2312C>G (p.Ala771Gly) c.2240C>G (p.Ala747Gly) c.2378C>G (p.Ala793Gly) c.2354C>G (p.Ala785Gly) c.2336C>G (p.Ala779Gly) c.2306C>G (p.Ala769Gly) c.2264C>G (p.Ala755Gly) c.2171C>G (p.Ala724Gly) c.2183C>G (p.Ala728Gly) c.2268+19746C>G (n.2268+19746C>G) | |
15 | g.27851408G>T | CA391360009 | OCA2 | c.2312C>A (p.Ala771Asp) c.2240C>A (p.Ala747Asp) c.2378C>A (p.Ala793Asp) c.2354C>A (p.Ala785Asp) c.2336C>A (p.Ala779Asp) c.2306C>A (p.Ala769Asp) c.2264C>A (p.Ala755Asp) c.2171C>A (p.Ala724Asp) c.2183C>A (p.Ala728Asp) c.2268+19746C>A (n.2268+19746C>A) | |
15 | g.27851409C>A | CA7438642 | OCA2 | c.2311G>T (p.Ala771Ser) c.2239G>T (p.Ala747Ser) c.2377G>T (p.Ala793Ser) c.2353G>T (p.Ala785Ser) c.2335G>T (p.Ala779Ser) c.2305G>T (p.Ala769Ser) c.2263G>T (p.Ala755Ser) c.2170G>T (p.Ala724Ser) c.2182G>T (p.Ala728Ser) c.2268+19745G>T (n.2268+19745G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27851409C= | CA2166351999 | OCA2 | c.2311G= (p.Ala771=) c.2239G= (p.Ala747=) c.2377G= (p.Ala793=) c.2353G= (p.Ala785=) c.2335G= (p.Ala779=) c.2305G= (p.Ala769=) c.2263G= (p.Ala755=) c.2170G= (p.Ala724=) c.2182G= (p.Ala728=) c.2268+19745G= (n.2268+19745G=) | |
15 | g.27851409C>G | CA391360015 | OCA2 | c.2311G>C (p.Ala771Pro) c.2239G>C (p.Ala747Pro) c.2377G>C (p.Ala793Pro) c.2353G>C (p.Ala785Pro) c.2335G>C (p.Ala779Pro) c.2305G>C (p.Ala769Pro) c.2263G>C (p.Ala755Pro) c.2170G>C (p.Ala724Pro) c.2182G>C (p.Ala728Pro) c.2268+19745G>C (n.2268+19745G>C) | |
15 | g.27851409C>T | CA391360017 | OCA2 | c.2311G>A (p.Ala771Thr) c.2239G>A (p.Ala747Thr) c.2377G>A (p.Ala793Thr) c.2353G>A (p.Ala785Thr) c.2335G>A (p.Ala779Thr) c.2305G>A (p.Ala769Thr) c.2263G>A (p.Ala755Thr) c.2170G>A (p.Ala724Thr) c.2182G>A (p.Ala728Thr) c.2268+19745G>A (n.2268+19745G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27851410A= | CA2166352000 | OCA2 | c.2310T= (p.Tyr770=) c.2238T= (p.Tyr746=) c.2376T= (p.Tyr792=) c.2352T= (p.Tyr784=) c.2334T= (p.Tyr778=) c.2304T= (p.Tyr768=) c.2262T= (p.Tyr754=) c.2169T= (p.Tyr723=) c.2181T= (p.Tyr727=) c.2268+19744T= (n.2268+19744T=) | |
15 | g.27851410A>C | CA267845081 | OCA2 | c.2310T>G (p.Tyr770Ter) c.2238T>G (p.Tyr746Ter) c.2376T>G (p.Tyr792Ter) c.2352T>G (p.Tyr784Ter) c.2334T>G (p.Tyr778Ter) c.2304T>G (p.Tyr768Ter) c.2262T>G (p.Tyr754Ter) c.2169T>G (p.Tyr723Ter) c.2181T>G (p.Tyr727Ter) c.2268+19744T>G (n.2268+19744T>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27851410A>G | CA7438643 | OCA2 | c.2310T>C (p.Tyr770=) c.2238T>C (p.Tyr746=) c.2376T>C (p.Tyr792=) c.2352T>C (p.Tyr784=) c.2334T>C (p.Tyr778=) c.2304T>C (p.Tyr768=) c.2262T>C (p.Tyr754=) c.2169T>C (p.Tyr723=) c.2181T>C (p.Tyr727=) c.2268+19744T>C (n.2268+19744T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27851410A>T | CA391360019 | OCA2 | c.2310T>A (p.Tyr770Ter) c.2238T>A (p.Tyr746Ter) c.2376T>A (p.Tyr792Ter) c.2352T>A (p.Tyr784Ter) c.2334T>A (p.Tyr778Ter) c.2304T>A (p.Tyr768Ter) c.2262T>A (p.Tyr754Ter) c.2169T>A (p.Tyr723Ter) c.2181T>A (p.Tyr727Ter) c.2268+19744T>A (n.2268+19744T>A) | dbSNP |
15 | g.27851411T>A | CA391360023 | OCA2 | c.2309A>T (p.Tyr770Phe) c.2237A>T (p.Tyr746Phe) c.2375A>T (p.Tyr792Phe) c.2351A>T (p.Tyr784Phe) c.2333A>T (p.Tyr778Phe) c.2303A>T (p.Tyr768Phe) c.2261A>T (p.Tyr754Phe) c.2168A>T (p.Tyr723Phe) c.2180A>T (p.Tyr727Phe) c.2268+19743A>T (n.2268+19743A>T) | |
15 | g.27851411T>C | CA391360024 | OCA2 | c.2309A>G (p.Tyr770Cys) c.2237A>G (p.Tyr746Cys) c.2375A>G (p.Tyr792Cys) c.2351A>G (p.Tyr784Cys) c.2333A>G (p.Tyr778Cys) c.2303A>G (p.Tyr768Cys) c.2261A>G (p.Tyr754Cys) c.2168A>G (p.Tyr723Cys) c.2180A>G (p.Tyr727Cys) c.2268+19743A>G (n.2268+19743A>G) | ClinVar |
15 | g.27851411T>G | CA391360026 | OCA2 | c.2309A>C (p.Tyr770Ser) c.2237A>C (p.Tyr746Ser) c.2375A>C (p.Tyr792Ser) c.2351A>C (p.Tyr784Ser) c.2333A>C (p.Tyr778Ser) c.2303A>C (p.Tyr768Ser) c.2261A>C (p.Tyr754Ser) c.2168A>C (p.Tyr723Ser) c.2180A>C (p.Tyr727Ser) c.2268+19743A>C (n.2268+19743A>C) | |
15 | g.27851412A>C | CA391360027 | OCA2 | c.2308T>G (p.Tyr770Asp) c.2236T>G (p.Tyr746Asp) c.2374T>G (p.Tyr792Asp) c.2350T>G (p.Tyr784Asp) c.2332T>G (p.Tyr778Asp) c.2302T>G (p.Tyr768Asp) c.2260T>G (p.Tyr754Asp) c.2167T>G (p.Tyr723Asp) c.2179T>G (p.Tyr727Asp) c.2268+19742T>G (n.2268+19742T>G) | |
15 | g.27851412A>G | CA391360029 | OCA2 | c.2308T>C (p.Tyr770His) c.2236T>C (p.Tyr746His) c.2374T>C (p.Tyr792His) c.2350T>C (p.Tyr784His) c.2332T>C (p.Tyr778His) c.2302T>C (p.Tyr768His) c.2260T>C (p.Tyr754His) c.2167T>C (p.Tyr723His) c.2179T>C (p.Tyr727His) c.2268+19742T>C (n.2268+19742T>C) | |
15 | g.27851412A>T | CA391360030 | OCA2 | c.2308T>A (p.Tyr770Asn) c.2236T>A (p.Tyr746Asn) c.2374T>A (p.Tyr792Asn) c.2350T>A (p.Tyr784Asn) c.2332T>A (p.Tyr778Asn) c.2302T>A (p.Tyr768Asn) c.2260T>A (p.Tyr754Asn) c.2167T>A (p.Tyr723Asn) c.2179T>A (p.Tyr727Asn) c.2268+19742T>A (n.2268+19742T>A) | |
15 | g.27851413C>A | CA391360031 | OCA2 | c.2307G>T (p.Met769Ile) c.2235G>T (p.Met745Ile) c.2373G>T (p.Met791Ile) c.2349G>T (p.Met783Ile) c.2331G>T (p.Met777Ile) c.2301G>T (p.Met767Ile) c.2259G>T (p.Met753Ile) c.2166G>T (p.Met722Ile) c.2178G>T (p.Met726Ile) c.2268+19741G>T (n.2268+19741G>T) | |
15 | g.27851413C>G | CA391360033 | OCA2 | c.2307G>C (p.Met769Ile) c.2235G>C (p.Met745Ile) c.2373G>C (p.Met791Ile) c.2349G>C (p.Met783Ile) c.2331G>C (p.Met777Ile) c.2301G>C (p.Met767Ile) c.2259G>C (p.Met753Ile) c.2166G>C (p.Met722Ile) c.2178G>C (p.Met726Ile) c.2268+19741G>C (n.2268+19741G>C) | |
15 | g.27851413C>T | CA391360032 | OCA2 | c.2307G>A (p.Met769Ile) c.2235G>A (p.Met745Ile) c.2373G>A (p.Met791Ile) c.2349G>A (p.Met783Ile) c.2331G>A (p.Met777Ile) c.2301G>A (p.Met767Ile) c.2259G>A (p.Met753Ile) c.2166G>A (p.Met722Ile) c.2178G>A (p.Met726Ile) c.2268+19741G>A (n.2268+19741G>A) | |
15 | g.27851414A= | CA2166352001 | OCA2 | c.2306T= (p.Met769=) c.2234T= (p.Met745=) c.2372T= (p.Met791=) c.2348T= (p.Met783=) c.2330T= (p.Met777=) c.2300T= (p.Met767=) c.2258T= (p.Met753=) c.2165T= (p.Met722=) c.2177T= (p.Met726=) c.2268+19740T= (n.2268+19740T=) | |
15 | g.27851414A>C | CA391360034 | OCA2 | c.2306T>G (p.Met769Arg) c.2234T>G (p.Met745Arg) c.2372T>G (p.Met791Arg) c.2348T>G (p.Met783Arg) c.2330T>G (p.Met777Arg) c.2300T>G (p.Met767Arg) c.2258T>G (p.Met753Arg) c.2165T>G (p.Met722Arg) c.2177T>G (p.Met726Arg) c.2268+19740T>G (n.2268+19740T>G) | gnomAD v4 |
15 | g.27851414A>G | CA7438644 | OCA2 | c.2306T>C (p.Met769Thr) c.2234T>C (p.Met745Thr) c.2372T>C (p.Met791Thr) c.2348T>C (p.Met783Thr) c.2330T>C (p.Met777Thr) c.2300T>C (p.Met767Thr) c.2258T>C (p.Met753Thr) c.2165T>C (p.Met722Thr) c.2177T>C (p.Met726Thr) c.2268+19740T>C (n.2268+19740T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851414A>T | CA391360037 | OCA2 | c.2306T>A (p.Met769Lys) c.2234T>A (p.Met745Lys) c.2372T>A (p.Met791Lys) c.2348T>A (p.Met783Lys) c.2330T>A (p.Met777Lys) c.2300T>A (p.Met767Lys) c.2258T>A (p.Met753Lys) c.2165T>A (p.Met722Lys) c.2177T>A (p.Met726Lys) c.2268+19740T>A (n.2268+19740T>A) | |
15 | g.27851415T>A | CA391360042 | OCA2 | c.2305A>T (p.Met769Leu) c.2233A>T (p.Met745Leu) c.2371A>T (p.Met791Leu) c.2347A>T (p.Met783Leu) c.2329A>T (p.Met777Leu) c.2299A>T (p.Met767Leu) c.2257A>T (p.Met753Leu) c.2164A>T (p.Met722Leu) c.2176A>T (p.Met726Leu) c.2268+19739A>T (n.2268+19739A>T) | dbSNP gnomAD v4 |
15 | g.27851415T>C | CA7438645 | OCA2 | c.2305A>G (p.Met769Val) c.2233A>G (p.Met745Val) c.2371A>G (p.Met791Val) c.2347A>G (p.Met783Val) c.2329A>G (p.Met777Val) c.2299A>G (p.Met767Val) c.2257A>G (p.Met753Val) c.2164A>G (p.Met722Val) c.2176A>G (p.Met726Val) c.2268+19739A>G (n.2268+19739A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851415T>G | CA391360044 | OCA2 | c.2305A>C (p.Met769Leu) c.2233A>C (p.Met745Leu) c.2371A>C (p.Met791Leu) c.2347A>C (p.Met783Leu) c.2329A>C (p.Met777Leu) c.2299A>C (p.Met767Leu) c.2257A>C (p.Met753Leu) c.2164A>C (p.Met722Leu) c.2176A>C (p.Met726Leu) c.2268+19739A>C (n.2268+19739A>C) | |
15 | g.27851415T= | CA2166352002 | OCA2 | c.2305A= (p.Met769=) c.2233A= (p.Met745=) c.2371A= (p.Met791=) c.2347A= (p.Met783=) c.2329A= (p.Met777=) c.2299A= (p.Met767=) c.2257A= (p.Met753=) c.2164A= (p.Met722=) c.2176A= (p.Met726=) c.2268+19739A= (n.2268+19739A=) | |
15 | g.27851416G>A | CA488959054 | OCA2 | c.2304C>T (p.Leu768=) c.2232C>T (p.Leu744=) c.2370C>T (p.Leu790=) c.2346C>T (p.Leu782=) c.2328C>T (p.Leu776=) c.2298C>T (p.Leu766=) c.2256C>T (p.Leu752=) c.2163C>T (p.Leu721=) c.2175C>T (p.Leu725=) c.2268+19738C>T (n.2268+19738C>T) | ClinVar dbSNP gnomAD v4 |
15 | g.27851416G>C | CA488959053 | OCA2 | c.2304C>G (p.Leu768=) c.2232C>G (p.Leu744=) c.2370C>G (p.Leu790=) c.2346C>G (p.Leu782=) c.2328C>G (p.Leu776=) c.2298C>G (p.Leu766=) c.2256C>G (p.Leu752=) c.2163C>G (p.Leu721=) c.2175C>G (p.Leu725=) c.2268+19738C>G (n.2268+19738C>G) | |
15 | g.27851416G= | CA2166352003 | OCA2 | c.2304C= (p.Leu768=) c.2232C= (p.Leu744=) c.2370C= (p.Leu790=) c.2346C= (p.Leu782=) c.2328C= (p.Leu776=) c.2298C= (p.Leu766=) c.2256C= (p.Leu752=) c.2163C= (p.Leu721=) c.2175C= (p.Leu725=) c.2268+19738C= (n.2268+19738C=) | |
15 | g.27851416G>T | CA488959052 | OCA2 | c.2304C>A (p.Leu768=) c.2232C>A (p.Leu744=) c.2370C>A (p.Leu790=) c.2346C>A (p.Leu782=) c.2328C>A (p.Leu776=) c.2298C>A (p.Leu766=) c.2256C>A (p.Leu752=) c.2163C>A (p.Leu721=) c.2175C>A (p.Leu725=) c.2268+19738C>A (n.2268+19738C>A) | ClinVar dbSNP |
15 | g.27851417A>C | CA391360046 | OCA2 | c.2303T>G (p.Leu768Arg) c.2231T>G (p.Leu744Arg) c.2369T>G (p.Leu790Arg) c.2345T>G (p.Leu782Arg) c.2327T>G (p.Leu776Arg) c.2297T>G (p.Leu766Arg) c.2255T>G (p.Leu752Arg) c.2162T>G (p.Leu721Arg) c.2174T>G (p.Leu725Arg) c.2268+19737T>G (n.2268+19737T>G) | |
15 | g.27851417A>G | CA391360047 | OCA2 | c.2303T>C (p.Leu768Pro) c.2231T>C (p.Leu744Pro) c.2369T>C (p.Leu790Pro) c.2345T>C (p.Leu782Pro) c.2327T>C (p.Leu776Pro) c.2297T>C (p.Leu766Pro) c.2255T>C (p.Leu752Pro) c.2162T>C (p.Leu721Pro) c.2174T>C (p.Leu725Pro) c.2268+19737T>C (n.2268+19737T>C) | |
15 | g.27851417A>T | CA391360049 | OCA2 | c.2303T>A (p.Leu768His) c.2231T>A (p.Leu744His) c.2369T>A (p.Leu790His) c.2345T>A (p.Leu782His) c.2327T>A (p.Leu776His) c.2297T>A (p.Leu766His) c.2255T>A (p.Leu752His) c.2162T>A (p.Leu721His) c.2174T>A (p.Leu725His) c.2268+19737T>A (n.2268+19737T>A) | |
15 | g.27851418G>A | CA391360051 | OCA2 | c.2302C>T (p.Leu768Phe) c.2230C>T (p.Leu744Phe) c.2368C>T (p.Leu790Phe) c.2344C>T (p.Leu782Phe) c.2326C>T (p.Leu776Phe) c.2296C>T (p.Leu766Phe) c.2254C>T (p.Leu752Phe) c.2161C>T (p.Leu721Phe) c.2173C>T (p.Leu725Phe) c.2268+19736C>T (n.2268+19736C>T) | |
15 | g.27851418G>C | CA391360053 | OCA2 | c.2302C>G (p.Leu768Val) c.2230C>G (p.Leu744Val) c.2368C>G (p.Leu790Val) c.2344C>G (p.Leu782Val) c.2326C>G (p.Leu776Val) c.2296C>G (p.Leu766Val) c.2254C>G (p.Leu752Val) c.2161C>G (p.Leu721Val) c.2173C>G (p.Leu725Val) c.2268+19736C>G (n.2268+19736C>G) | |
15 | g.27851418G>T | CA391360054 | OCA2 | c.2302C>A (p.Leu768Ile) c.2230C>A (p.Leu744Ile) c.2368C>A (p.Leu790Ile) c.2344C>A (p.Leu782Ile) c.2326C>A (p.Leu776Ile) c.2296C>A (p.Leu766Ile) c.2254C>A (p.Leu752Ile) c.2161C>A (p.Leu721Ile) c.2173C>A (p.Leu725Ile) c.2268+19736C>A (n.2268+19736C>A) | |
15 | g.27851419C>A | CA7438647 | OCA2 | c.2301G>T (p.Pro767=) c.2229G>T (p.Pro743=) c.2367G>T (p.Pro789=) c.2343G>T (p.Pro781=) c.2325G>T (p.Pro775=) c.2295G>T (p.Pro765=) c.2253G>T (p.Pro751=) c.2160G>T (p.Pro720=) c.2172G>T (p.Pro724=) c.2268+19735G>T (n.2268+19735G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27851419C= | CA2166352004 | OCA2 | c.2301G= (p.Pro767=) c.2229G= (p.Pro743=) c.2367G= (p.Pro789=) c.2343G= (p.Pro781=) c.2325G= (p.Pro775=) c.2295G= (p.Pro765=) c.2253G= (p.Pro751=) c.2160G= (p.Pro720=) c.2172G= (p.Pro724=) c.2268+19735G= (n.2268+19735G=) | |
15 | g.27851419C>G | CA488959057 | OCA2 | c.2301G>C (p.Pro767=) c.2229G>C (p.Pro743=) c.2367G>C (p.Pro789=) c.2343G>C (p.Pro781=) c.2325G>C (p.Pro775=) c.2295G>C (p.Pro765=) c.2253G>C (p.Pro751=) c.2160G>C (p.Pro720=) c.2172G>C (p.Pro724=) c.2268+19735G>C (n.2268+19735G>C) | gnomAD v4 |
15 | g.27851419C>T | CA7438646 | OCA2 | c.2301G>A (p.Pro767=) c.2229G>A (p.Pro743=) c.2367G>A (p.Pro789=) c.2343G>A (p.Pro781=) c.2325G>A (p.Pro775=) c.2295G>A (p.Pro765=) c.2253G>A (p.Pro751=) c.2160G>A (p.Pro720=) c.2172G>A (p.Pro724=) c.2268+19735G>A (n.2268+19735G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.27851420G>A | CA7438648 | OCA2 | c.2300C>T (p.Pro767Leu) c.2228C>T (p.Pro743Leu) c.2366C>T (p.Pro789Leu) c.2342C>T (p.Pro781Leu) c.2324C>T (p.Pro775Leu) c.2294C>T (p.Pro765Leu) c.2252C>T (p.Pro751Leu) c.2159C>T (p.Pro720Leu) c.2171C>T (p.Pro724Leu) c.2268+19734C>T (n.2268+19734C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27851420G>C | CA391360058 | OCA2 | c.2300C>G (p.Pro767Arg) c.2228C>G (p.Pro743Arg) c.2366C>G (p.Pro789Arg) c.2342C>G (p.Pro781Arg) c.2324C>G (p.Pro775Arg) c.2294C>G (p.Pro765Arg) c.2252C>G (p.Pro751Arg) c.2159C>G (p.Pro720Arg) c.2171C>G (p.Pro724Arg) c.2268+19734C>G (n.2268+19734C>G) | |
15 | g.27851420G= | CA2166352005 | OCA2 | c.2300C= (p.Pro767=) c.2228C= (p.Pro743=) c.2366C= (p.Pro789=) c.2342C= (p.Pro781=) c.2324C= (p.Pro775=) c.2294C= (p.Pro765=) c.2252C= (p.Pro751=) c.2159C= (p.Pro720=) c.2171C= (p.Pro724=) c.2268+19734C= (n.2268+19734C=) | |
15 | g.27851420G>T | CA391360059 | OCA2 | c.2300C>A (p.Pro767Gln) c.2228C>A (p.Pro743Gln) c.2366C>A (p.Pro789Gln) c.2342C>A (p.Pro781Gln) c.2324C>A (p.Pro775Gln) c.2294C>A (p.Pro765Gln) c.2252C>A (p.Pro751Gln) c.2159C>A (p.Pro720Gln) c.2171C>A (p.Pro724Gln) c.2268+19734C>A (n.2268+19734C>A) | |
15 | g.27851421G>A | CA391360062 | OCA2 | c.2299C>T (p.Pro767Ser) c.2227C>T (p.Pro743Ser) c.2365C>T (p.Pro789Ser) c.2341C>T (p.Pro781Ser) c.2323C>T (p.Pro775Ser) c.2293C>T (p.Pro765Ser) c.2251C>T (p.Pro751Ser) c.2158C>T (p.Pro720Ser) c.2170C>T (p.Pro724Ser) c.2268+19733C>T (n.2268+19733C>T) | gnomAD v4 |
15 | g.27851421G>C | CA391360064 | OCA2 | c.2299C>G (p.Pro767Ala) c.2227C>G (p.Pro743Ala) c.2365C>G (p.Pro789Ala) c.2341C>G (p.Pro781Ala) c.2323C>G (p.Pro775Ala) c.2293C>G (p.Pro765Ala) c.2251C>G (p.Pro751Ala) c.2158C>G (p.Pro720Ala) c.2170C>G (p.Pro724Ala) c.2268+19733C>G (n.2268+19733C>G) | |
15 | g.27851421G= | CA2166352006 | OCA2 | c.2299C= (p.Pro767=) c.2227C= (p.Pro743=) c.2365C= (p.Pro789=) c.2341C= (p.Pro781=) c.2323C= (p.Pro775=) c.2293C= (p.Pro765=) c.2251C= (p.Pro751=) c.2158C= (p.Pro720=) c.2170C= (p.Pro724=) c.2268+19733C= (n.2268+19733C=) | |
15 | g.27851421G>T | CA391360066 | OCA2 | c.2299C>A (p.Pro767Thr) c.2227C>A (p.Pro743Thr) c.2365C>A (p.Pro789Thr) c.2341C>A (p.Pro781Thr) c.2323C>A (p.Pro775Thr) c.2293C>A (p.Pro765Thr) c.2251C>A (p.Pro751Thr) c.2158C>A (p.Pro720Thr) c.2170C>A (p.Pro724Thr) c.2268+19733C>A (n.2268+19733C>A) | dbSNP |
15 | g.27851422C>A | CA488959059 | OCA2 | c.2298G>T (p.Pro766=) c.2226G>T (p.Pro742=) c.2364G>T (p.Pro788=) c.2340G>T (p.Pro780=) c.2322G>T (p.Pro774=) c.2292G>T (p.Pro764=) c.2250G>T (p.Pro750=) c.2157G>T (p.Pro719=) c.2169G>T (p.Pro723=) c.2268+19732G>T (n.2268+19732G>T) | ClinVar |
15 | g.27851422C= | CA2166352007 | OCA2 | c.2298G= (p.Pro766=) c.2226G= (p.Pro742=) c.2364G= (p.Pro788=) c.2340G= (p.Pro780=) c.2322G= (p.Pro774=) c.2292G= (p.Pro764=) c.2250G= (p.Pro750=) c.2157G= (p.Pro719=) c.2169G= (p.Pro723=) c.2268+19732G= (n.2268+19732G=) | |
15 | g.27851422C>G | CA488959060 | OCA2 | c.2298G>C (p.Pro766=) c.2226G>C (p.Pro742=) c.2364G>C (p.Pro788=) c.2340G>C (p.Pro780=) c.2322G>C (p.Pro774=) c.2292G>C (p.Pro764=) c.2250G>C (p.Pro750=) c.2157G>C (p.Pro719=) c.2169G>C (p.Pro723=) c.2268+19732G>C (n.2268+19732G>C) | |
15 | g.27851422C>T | CA267845152 | OCA2 | c.2298G>A (p.Pro766=) c.2226G>A (p.Pro742=) c.2364G>A (p.Pro788=) c.2340G>A (p.Pro780=) c.2322G>A (p.Pro774=) c.2292G>A (p.Pro764=) c.2250G>A (p.Pro750=) c.2157G>A (p.Pro719=) c.2169G>A (p.Pro723=) c.2268+19732G>A (n.2268+19732G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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 |