| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27851379_27851384dup | CA616702029 | OCA2 | c.2336_2338+3dup c.2264_2266+3dup c.2402_2404+3dup c.2378_2380+3dup c.2360_2362+3dup c.2330_2332+3dup c.2288_2290+3dup c.2195_2197+3dup c.2207_2209+3dup c.2268+19770_2268+19775dup (n.2268+19770_2268+19775dup) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.27851380A= | CA2166351984 | OCA2 | c.2338+2T= (n.2338+2T=) c.2266+2T= (n.2266+2T=) c.2404+2T= (n.2404+2T=) c.2380+2T= (n.2380+2T=) c.2362+2T= (n.2362+2T=) c.2332+2T= (n.2332+2T=) c.2290+2T= (n.2290+2T=) c.2197+2T= (n.2197+2T=) c.2209+2T= (n.2209+2T=) c.2268+19774T= (n.2268+19774T=) | |
| 15 | g.27851380A>C | CA16619914 | OCA2 | c.2338+2T>G (n.2338+2T>G) c.2266+2T>G (n.2266+2T>G) c.2404+2T>G (n.2404+2T>G) c.2380+2T>G (n.2380+2T>G) c.2362+2T>G (n.2362+2T>G) c.2332+2T>G (n.2332+2T>G) c.2290+2T>G (n.2290+2T>G) c.2197+2T>G (n.2197+2T>G) c.2209+2T>G (n.2209+2T>G) c.2268+19774T>G (n.2268+19774T>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.27851380A>G | CA391359787 | OCA2 | c.2338+2T>C (n.2338+2T>C) c.2266+2T>C (n.2266+2T>C) c.2404+2T>C (n.2404+2T>C) c.2380+2T>C (n.2380+2T>C) c.2362+2T>C (n.2362+2T>C) c.2332+2T>C (n.2332+2T>C) c.2290+2T>C (n.2290+2T>C) c.2197+2T>C (n.2197+2T>C) c.2209+2T>C (n.2209+2T>C) c.2268+19774T>C (n.2268+19774T>C) | |
| 15 | g.27851380A>T | CA391359788 | OCA2 | c.2338+2T>A (n.2338+2T>A) c.2266+2T>A (n.2266+2T>A) c.2404+2T>A (n.2404+2T>A) c.2380+2T>A (n.2380+2T>A) c.2362+2T>A (n.2362+2T>A) c.2332+2T>A (n.2332+2T>A) c.2290+2T>A (n.2290+2T>A) c.2197+2T>A (n.2197+2T>A) c.2209+2T>A (n.2209+2T>A) c.2268+19774T>A (n.2268+19774T>A) | |
| 15 | g.27851381C>A | CA7438633 | OCA2 | c.2338+1G>T (n.2338+1G>T) c.2266+1G>T (n.2266+1G>T) c.2404+1G>T (n.2404+1G>T) c.2380+1G>T (n.2380+1G>T) c.2362+1G>T (n.2362+1G>T) c.2332+1G>T (n.2332+1G>T) c.2290+1G>T (n.2290+1G>T) c.2197+1G>T (n.2197+1G>T) c.2209+1G>T (n.2209+1G>T) c.2268+19773G>T (n.2268+19773G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27851381C= | CA2166351985 | OCA2 | c.2338+1G= (n.2338+1G=) c.2266+1G= (n.2266+1G=) c.2404+1G= (n.2404+1G=) c.2380+1G= (n.2380+1G=) c.2362+1G= (n.2362+1G=) c.2332+1G= (n.2332+1G=) c.2290+1G= (n.2290+1G=) c.2197+1G= (n.2197+1G=) c.2209+1G= (n.2209+1G=) c.2268+19773G= (n.2268+19773G=) | |
| 15 | g.27851381C>G | CA391359796 | OCA2 | c.2338+1G>C (n.2338+1G>C) c.2266+1G>C (n.2266+1G>C) c.2404+1G>C (n.2404+1G>C) c.2380+1G>C (n.2380+1G>C) c.2362+1G>C (n.2362+1G>C) c.2332+1G>C (n.2332+1G>C) c.2290+1G>C (n.2290+1G>C) c.2197+1G>C (n.2197+1G>C) c.2209+1G>C (n.2209+1G>C) c.2268+19773G>C (n.2268+19773G>C) | |
| 15 | g.27851381C>T | CA391359799 | OCA2 | c.2338+1G>A (n.2338+1G>A) c.2266+1G>A (n.2266+1G>A) c.2404+1G>A (n.2404+1G>A) c.2380+1G>A (n.2380+1G>A) c.2362+1G>A (n.2362+1G>A) c.2332+1G>A (n.2332+1G>A) c.2290+1G>A (n.2290+1G>A) c.2197+1G>A (n.2197+1G>A) c.2209+1G>A (n.2209+1G>A) c.2268+19773G>A (n.2268+19773G>A) | ClinVar |
| 15 | g.27851382C>A | CA391359804 | OCA2 | c.2338G>T (p.Gly780Cys) c.2266G>T (p.Gly756Cys) c.2404G>T (p.Gly802Cys) c.2380G>T (p.Gly794Cys) c.2362G>T (p.Gly788Cys) c.2332G>T (p.Gly778Cys) c.2290G>T (p.Gly764Cys) c.2197G>T (p.Gly733Cys) c.2209G>T (p.Gly737Cys) c.2268+19772G>T (n.2268+19772G>T) | |
| 15 | g.27851382C= | CA2166351986 | OCA2 | c.2338G= (p.Gly780=) c.2266G= (p.Gly756=) c.2404G= (p.Gly802=) c.2380G= (p.Gly794=) c.2362G= (p.Gly788=) c.2332G= (p.Gly778=) c.2290G= (p.Gly764=) c.2197G= (p.Gly733=) c.2209G= (p.Gly737=) c.2268+19772G= (n.2268+19772G=) | |
| 15 | g.27851382C>G | CA391359805 | OCA2 | c.2338G>C (p.Gly780Arg) c.2266G>C (p.Gly756Arg) c.2404G>C (p.Gly802Arg) c.2380G>C (p.Gly794Arg) c.2362G>C (p.Gly788Arg) c.2332G>C (p.Gly778Arg) c.2290G>C (p.Gly764Arg) c.2197G>C (p.Gly733Arg) c.2209G>C (p.Gly737Arg) c.2268+19772G>C (n.2268+19772G>C) | dbSNP |
| 15 | g.27851382C>T | CA391359811 | OCA2 | c.2338G>A (p.Gly780Ser) c.2266G>A (p.Gly756Ser) c.2404G>A (p.Gly802Ser) c.2380G>A (p.Gly794Ser) c.2362G>A (p.Gly788Ser) c.2332G>A (p.Gly778Ser) c.2290G>A (p.Gly764Ser) c.2197G>A (p.Gly733Ser) c.2209G>A (p.Gly737Ser) c.2268+19772G>A (n.2268+19772G>A) | |
| 15 | g.27851383T>A | CA488959008 | OCA2 | c.2337A>T (p.Gly779=) c.2265A>T (p.Gly755=) c.2403A>T (p.Gly801=) c.2379A>T (p.Gly793=) c.2361A>T (p.Gly787=) c.2331A>T (p.Gly777=) c.2289A>T (p.Gly763=) c.2196A>T (p.Gly732=) c.2208A>T (p.Gly736=) c.2268+19771A>T (n.2268+19771A>T) | |
| 15 | g.27851383T>C | CA488959009 | OCA2 | c.2337A>G (p.Gly779=) c.2265A>G (p.Gly755=) c.2403A>G (p.Gly801=) c.2379A>G (p.Gly793=) c.2361A>G (p.Gly787=) c.2331A>G (p.Gly777=) c.2289A>G (p.Gly763=) c.2196A>G (p.Gly732=) c.2208A>G (p.Gly736=) c.2268+19771A>G (n.2268+19771A>G) | |
| 15 | g.27851383T>G | CA488959010 | OCA2 | c.2337A>C (p.Gly779=) c.2265A>C (p.Gly755=) c.2403A>C (p.Gly801=) c.2379A>C (p.Gly793=) c.2361A>C (p.Gly787=) c.2331A>C (p.Gly777=) c.2289A>C (p.Gly763=) c.2196A>C (p.Gly732=) c.2208A>C (p.Gly736=) c.2268+19771A>C (n.2268+19771A>C) | |
| 15 | g.27851383_27851384delinsTC | CA2166351987 | OCA2 | c.2336_2337delinsGA (p.Gly779=) c.2264_2265delinsGA (p.Gly755=) c.2402_2403delinsGA (p.Gly801=) c.2378_2379delinsGA (p.Gly793=) c.2360_2361delinsGA (p.Gly787=) c.2330_2331delinsGA (p.Gly777=) c.2288_2289delinsGA (p.Gly763=) c.2195_2196delinsGA (p.Gly732=) c.2207_2208delinsGA (p.Gly736=) c.2268+19770_2268+19771delinsGA (n.2268+19770_2268+19771delinsGA) | |
| 15 | g.27851384C>A | CA391359816 | OCA2 | c.2336G>T (p.Gly779Val) c.2264G>T (p.Gly755Val) c.2402G>T (p.Gly801Val) c.2378G>T (p.Gly793Val) c.2360G>T (p.Gly787Val) c.2330G>T (p.Gly777Val) c.2288G>T (p.Gly763Val) c.2195G>T (p.Gly732Val) c.2207G>T (p.Gly736Val) c.2268+19770G>T (n.2268+19770G>T) | |
| 15 | g.27851384C>G | CA391359820 | OCA2 | c.2336G>C (p.Gly779Ala) c.2264G>C (p.Gly755Ala) c.2402G>C (p.Gly801Ala) c.2378G>C (p.Gly793Ala) c.2360G>C (p.Gly787Ala) c.2330G>C (p.Gly777Ala) c.2288G>C (p.Gly763Ala) c.2195G>C (p.Gly732Ala) c.2207G>C (p.Gly736Ala) c.2268+19770G>C (n.2268+19770G>C) | |
| 15 | g.27851384C>T | CA391359823 | OCA2 | c.2336G>A (p.Gly779Glu) c.2264G>A (p.Gly755Glu) c.2402G>A (p.Gly801Glu) c.2378G>A (p.Gly793Glu) c.2360G>A (p.Gly787Glu) c.2330G>A (p.Gly777Glu) c.2288G>A (p.Gly763Glu) c.2195G>A (p.Gly732Glu) c.2207G>A (p.Gly736Glu) c.2268+19770G>A (n.2268+19770G>A) | |
| 15 | g.27851386del | CA616702032 | OCA2 | c.2336del (p.Gly779GlufsTer6) c.2264del (p.Gly755GlufsTer6) c.2402del (p.Gly801GlufsTer6) c.2378del (p.Gly793GlufsTer6) c.2360del (p.Gly787GlufsTer6) c.2330del (p.Gly777GlufsTer6) c.2288del (p.Gly763GlufsTer6) c.2195del (p.Gly732GlufsTer6) c.2207del (p.Gly736GlufsTer6) c.2268+19770del (n.2268+19770del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27851385C>A | CA391359832 | OCA2 | c.2335G>T (p.Gly779Ter) c.2263G>T (p.Gly755Ter) c.2401G>T (p.Gly801Ter) c.2377G>T (p.Gly793Ter) c.2359G>T (p.Gly787Ter) c.2329G>T (p.Gly777Ter) c.2287G>T (p.Gly763Ter) c.2194G>T (p.Gly732Ter) c.2206G>T (p.Gly736Ter) c.2268+19769G>T (n.2268+19769G>T) | |
| 15 | g.27851385C>G | CA391359827 | OCA2 | c.2335G>C (p.Gly779Arg) c.2263G>C (p.Gly755Arg) c.2401G>C (p.Gly801Arg) c.2377G>C (p.Gly793Arg) c.2359G>C (p.Gly787Arg) c.2329G>C (p.Gly777Arg) c.2287G>C (p.Gly763Arg) c.2194G>C (p.Gly732Arg) c.2206G>C (p.Gly736Arg) c.2268+19769G>C (n.2268+19769G>C) | |
| 15 | g.27851385C>T | CA391359825 | OCA2 | c.2335G>A (p.Gly779Arg) c.2263G>A (p.Gly755Arg) c.2401G>A (p.Gly801Arg) c.2377G>A (p.Gly793Arg) c.2359G>A (p.Gly787Arg) c.2329G>A (p.Gly777Arg) c.2287G>A (p.Gly763Arg) c.2194G>A (p.Gly732Arg) c.2206G>A (p.Gly736Arg) c.2268+19769G>A (n.2268+19769G>A) | ClinVar dbSNP |
| 15 | g.27851386C>A | CA488959014 | OCA2 | c.2334G>T (p.Leu778=) c.2262G>T (p.Leu754=) c.2400G>T (p.Leu800=) c.2376G>T (p.Leu792=) c.2358G>T (p.Leu786=) c.2328G>T (p.Leu776=) c.2286G>T (p.Leu762=) c.2193G>T (p.Leu731=) c.2205G>T (p.Leu735=) c.2268+19768G>T (n.2268+19768G>T) | COSMIC |
| 15 | g.27851386C>G | CA488959015 | OCA2 | c.2334G>C (p.Leu778=) c.2262G>C (p.Leu754=) c.2400G>C (p.Leu800=) c.2376G>C (p.Leu792=) c.2358G>C (p.Leu786=) c.2328G>C (p.Leu776=) c.2286G>C (p.Leu762=) c.2193G>C (p.Leu731=) c.2205G>C (p.Leu735=) c.2268+19768G>C (n.2268+19768G>C) | |
| 15 | g.27851386C>T | CA488959016 | OCA2 | c.2334G>A (p.Leu778=) c.2262G>A (p.Leu754=) c.2400G>A (p.Leu800=) c.2376G>A (p.Leu792=) c.2358G>A (p.Leu786=) c.2328G>A (p.Leu776=) c.2286G>A (p.Leu762=) c.2193G>A (p.Leu731=) c.2205G>A (p.Leu735=) c.2268+19768G>A (n.2268+19768G>A) | COSMIC |
| 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 |