Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197427697G>A | CA344037074 | CRB1 | c.2372G>A (p.Gly791Glu) c.1253G>A (p.Gly418Glu) c.515G>A (p.Gly172Glu) c.2036G>A (p.Gly679Glu) n.273G>A c.2165G>A (p.Gly722Glu) c.2128+5741G>A (n.2128+5741G>A) n.2373G>A n.2581G>A c.1790G>A (p.Gly597Glu) c.815G>A (p.Gly272Glu) c.1529G>A (p.Gly510Glu) n.2325G>A n.2533G>A | gnomAD v4 |
1 | g.197427697G>C | CA344037072 | CRB1 | c.2372G>C (p.Gly791Ala) c.1253G>C (p.Gly418Ala) c.515G>C (p.Gly172Ala) c.2036G>C (p.Gly679Ala) n.273G>C c.2165G>C (p.Gly722Ala) c.2128+5741G>C (n.2128+5741G>C) n.2373G>C n.2581G>C c.1790G>C (p.Gly597Ala) c.815G>C (p.Gly272Ala) c.1529G>C (p.Gly510Ala) n.2325G>C n.2533G>C | |
1 | g.197427697G>T | CA344037073 | CRB1 | c.2372G>T (p.Gly791Val) c.1253G>T (p.Gly418Val) c.515G>T (p.Gly172Val) c.2036G>T (p.Gly679Val) n.273G>T c.2165G>T (p.Gly722Val) c.2128+5741G>T (n.2128+5741G>T) n.2373G>T n.2581G>T c.1790G>T (p.Gly597Val) c.815G>T (p.Gly272Val) c.1529G>T (p.Gly510Val) n.2325G>T n.2533G>T | |
1 | g.197427698A= | CA1218066187 | CRB1 | c.2373A= (p.Gly791=) c.1254A= (p.Gly418=) c.516A= (p.Gly172=) c.2037A= (p.Gly679=) n.274A= c.2166A= (p.Gly722=) c.2128+5742A= (n.2128+5742A=) n.2374A= n.2582A= c.1791A= (p.Gly597=) c.816A= (p.Gly272=) c.1530A= (p.Gly510=) n.2326A= n.2534A= | |
1 | g.197427698A>C | CA422809285 | CRB1 | c.2373A>C (p.Gly791=) c.1254A>C (p.Gly418=) c.516A>C (p.Gly172=) c.2037A>C (p.Gly679=) n.274A>C c.2166A>C (p.Gly722=) c.2128+5742A>C (n.2128+5742A>C) n.2374A>C n.2582A>C c.1791A>C (p.Gly597=) c.816A>C (p.Gly272=) c.1530A>C (p.Gly510=) n.2326A>C n.2534A>C | |
1 | g.197427698A>G | CA422809287 | CRB1 | c.2373A>G (p.Gly791=) c.1254A>G (p.Gly418=) c.516A>G (p.Gly172=) c.2037A>G (p.Gly679=) n.274A>G c.2166A>G (p.Gly722=) c.2128+5742A>G (n.2128+5742A>G) n.2374A>G n.2582A>G c.1791A>G (p.Gly597=) c.816A>G (p.Gly272=) c.1530A>G (p.Gly510=) n.2326A>G n.2534A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427698A>T | CA422809288 | CRB1 | c.2373A>T (p.Gly791=) c.1254A>T (p.Gly418=) c.516A>T (p.Gly172=) c.2037A>T (p.Gly679=) n.274A>T c.2166A>T (p.Gly722=) c.2128+5742A>T (n.2128+5742A>T) n.2374A>T n.2582A>T c.1791A>T (p.Gly597=) c.816A>T (p.Gly272=) c.1530A>T (p.Gly510=) n.2326A>T n.2534A>T | COSMIC |
1 | g.197427699A>C | CA344037075 | CRB1 | c.2374A>C (p.Asn792His) c.1255A>C (p.Asn419His) c.517A>C (p.Asn173His) c.2038A>C (p.Asn680His) n.275A>C c.2167A>C (p.Asn723His) c.2128+5743A>C (n.2128+5743A>C) n.2375A>C n.2583A>C c.1792A>C (p.Asn598His) c.817A>C (p.Asn273His) c.1531A>C (p.Asn511His) n.2327A>C n.2535A>C | |
1 | g.197427699A>G | CA344037076 | CRB1 | c.2374A>G (p.Asn792Asp) c.1255A>G (p.Asn419Asp) c.517A>G (p.Asn173Asp) c.2038A>G (p.Asn680Asp) n.275A>G c.2167A>G (p.Asn723Asp) c.2128+5743A>G (n.2128+5743A>G) n.2375A>G n.2583A>G c.1792A>G (p.Asn598Asp) c.817A>G (p.Asn273Asp) c.1531A>G (p.Asn511Asp) n.2327A>G n.2535A>G | |
1 | g.197427699A>T | CA344037077 | CRB1 | c.2374A>T (p.Asn792Tyr) c.1255A>T (p.Asn419Tyr) c.517A>T (p.Asn173Tyr) c.2038A>T (p.Asn680Tyr) n.275A>T c.2167A>T (p.Asn723Tyr) c.2128+5743A>T (n.2128+5743A>T) n.2375A>T n.2583A>T c.1792A>T (p.Asn598Tyr) c.817A>T (p.Asn273Tyr) c.1531A>T (p.Asn511Tyr) n.2327A>T n.2535A>T | |
1 | g.197427700A= | CA1148229772 | CRB1 | c.2375A= (p.Asn792=) c.1256A= (p.Asn419=) c.518A= (p.Asn173=) c.2039A= (p.Asn680=) n.276A= c.2168A= (p.Asn723=) c.2128+5744A= (n.2128+5744A=) n.2376A= n.2584A= c.1793A= (p.Asn598=) c.818A= (p.Asn273=) c.1532A= (p.Asn511=) n.2328A= n.2536A= | |
1 | g.197427700A>C | CA344037078 | CRB1 | c.2375A>C (p.Asn792Thr) c.1256A>C (p.Asn419Thr) c.518A>C (p.Asn173Thr) c.2039A>C (p.Asn680Thr) n.276A>C c.2168A>C (p.Asn723Thr) c.2128+5744A>C (n.2128+5744A>C) n.2376A>C n.2584A>C c.1793A>C (p.Asn598Thr) c.818A>C (p.Asn273Thr) c.1532A>C (p.Asn511Thr) n.2328A>C n.2536A>C | |
1 | g.197427700A>G | CA1312111 | CRB1 | c.2375A>G (p.Asn792Ser) c.1256A>G (p.Asn419Ser) c.518A>G (p.Asn173Ser) c.2039A>G (p.Asn680Ser) n.276A>G c.2168A>G (p.Asn723Ser) c.2128+5744A>G (n.2128+5744A>G) n.2376A>G n.2584A>G c.1793A>G (p.Asn598Ser) c.818A>G (p.Asn273Ser) c.1532A>G (p.Asn511Ser) n.2328A>G n.2536A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427700A>T | CA344037079 | CRB1 | c.2375A>T (p.Asn792Ile) c.1256A>T (p.Asn419Ile) c.518A>T (p.Asn173Ile) c.2039A>T (p.Asn680Ile) n.276A>T c.2168A>T (p.Asn723Ile) c.2128+5744A>T (n.2128+5744A>T) n.2376A>T n.2584A>T c.1793A>T (p.Asn598Ile) c.818A>T (p.Asn273Ile) c.1532A>T (p.Asn511Ile) n.2328A>T n.2536A>T | |
1 | g.197427701T>A | CA344037080 | CRB1 | c.2376T>A (p.Asn792Lys) c.1257T>A (p.Asn419Lys) c.519T>A (p.Asn173Lys) c.2040T>A (p.Asn680Lys) n.277T>A c.2169T>A (p.Asn723Lys) c.2128+5745T>A (n.2128+5745T>A) n.2377T>A n.2585T>A c.1794T>A (p.Asn598Lys) c.819T>A (p.Asn273Lys) c.1533T>A (p.Asn511Lys) n.2329T>A n.2537T>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427701T>C | CA422809297 | CRB1 | c.2376T>C (p.Asn792=) c.1257T>C (p.Asn419=) c.519T>C (p.Asn173=) c.2040T>C (p.Asn680=) n.277T>C c.2169T>C (p.Asn723=) c.2128+5745T>C (n.2128+5745T>C) n.2377T>C n.2585T>C c.1794T>C (p.Asn598=) c.819T>C (p.Asn273=) c.1533T>C (p.Asn511=) n.2329T>C n.2537T>C | |
1 | g.197427701T>G | CA344037081 | CRB1 | c.2376T>G (p.Asn792Lys) c.1257T>G (p.Asn419Lys) c.519T>G (p.Asn173Lys) c.2040T>G (p.Asn680Lys) n.277T>G c.2169T>G (p.Asn723Lys) c.2128+5745T>G (n.2128+5745T>G) n.2377T>G n.2585T>G c.1794T>G (p.Asn598Lys) c.819T>G (p.Asn273Lys) c.1533T>G (p.Asn511Lys) n.2329T>G n.2537T>G | |
1 | g.197427701T= | CA1218066190 | CRB1 | c.2376T= (p.Asn792=) c.1257T= (p.Asn419=) c.519T= (p.Asn173=) c.2040T= (p.Asn680=) n.277T= c.2169T= (p.Asn723=) c.2128+5745T= (n.2128+5745T=) n.2377T= n.2585T= c.1794T= (p.Asn598=) c.819T= (p.Asn273=) c.1533T= (p.Asn511=) n.2329T= n.2537T= | |
1 | g.197427702G>A | CA1312112 | CRB1 | c.2377G>A (p.Val793Ile) c.1258G>A (p.Val420Ile) c.520G>A (p.Val174Ile) c.2041G>A (p.Val681Ile) n.278G>A c.2170G>A (p.Val724Ile) c.2128+5746G>A (n.2128+5746G>A) n.2378G>A n.2586G>A c.1795G>A (p.Val599Ile) c.820G>A (p.Val274Ile) c.1534G>A (p.Val512Ile) n.2330G>A n.2538G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427702G>C | CA344037082 | CRB1 | c.2377G>C (p.Val793Leu) c.1258G>C (p.Val420Leu) c.520G>C (p.Val174Leu) c.2041G>C (p.Val681Leu) n.278G>C c.2170G>C (p.Val724Leu) c.2128+5746G>C (n.2128+5746G>C) n.2378G>C n.2586G>C c.1795G>C (p.Val599Leu) c.820G>C (p.Val274Leu) c.1534G>C (p.Val512Leu) n.2330G>C n.2538G>C | dbSNP |
1 | g.197427702G= | CA1144351085 | CRB1 | c.2377G= (p.Val793=) c.1258G= (p.Val420=) c.520G= (p.Val174=) c.2041G= (p.Val681=) n.278G= c.2170G= (p.Val724=) c.2128+5746G= (n.2128+5746G=) n.2378G= n.2586G= c.1795G= (p.Val599=) c.820G= (p.Val274=) c.1534G= (p.Val512=) n.2330G= n.2538G= | |
1 | g.197427702G>T | CA344037083 | CRB1 | c.2377G>T (p.Val793Phe) c.1258G>T (p.Val420Phe) c.520G>T (p.Val174Phe) c.2041G>T (p.Val681Phe) n.278G>T c.2170G>T (p.Val724Phe) c.2128+5746G>T (n.2128+5746G>T) n.2378G>T n.2586G>T c.1795G>T (p.Val599Phe) c.820G>T (p.Val274Phe) c.1534G>T (p.Val512Phe) n.2330G>T n.2538G>T | |
1 | g.197427703T>A | CA1312113 | CRB1 | c.2378T>A (p.Val793Asp) c.1259T>A (p.Val420Asp) c.521T>A (p.Val174Asp) c.2042T>A (p.Val681Asp) n.279T>A c.2171T>A (p.Val724Asp) c.2128+5747T>A (n.2128+5747T>A) n.2379T>A n.2587T>A c.1796T>A (p.Val599Asp) c.821T>A (p.Val274Asp) c.1535T>A (p.Val512Asp) n.2331T>A n.2539T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427703T>C | CA344037085 | CRB1 | c.2378T>C (p.Val793Ala) c.1259T>C (p.Val420Ala) c.521T>C (p.Val174Ala) c.2042T>C (p.Val681Ala) n.279T>C c.2171T>C (p.Val724Ala) c.2128+5747T>C (n.2128+5747T>C) n.2379T>C n.2587T>C c.1796T>C (p.Val599Ala) c.821T>C (p.Val274Ala) c.1535T>C (p.Val512Ala) n.2331T>C n.2539T>C | |
1 | g.197427703T>G | CA344037084 | CRB1 | c.2378T>G (p.Val793Gly) c.1259T>G (p.Val420Gly) c.521T>G (p.Val174Gly) c.2042T>G (p.Val681Gly) n.279T>G c.2171T>G (p.Val724Gly) c.2128+5747T>G (n.2128+5747T>G) n.2379T>G n.2587T>G c.1796T>G (p.Val599Gly) c.821T>G (p.Val274Gly) c.1535T>G (p.Val512Gly) n.2331T>G n.2539T>G | |
1 | g.197427703T= | CA1218066193 | CRB1 | c.2378T= (p.Val793=) c.1259T= (p.Val420=) c.521T= (p.Val174=) c.2042T= (p.Val681=) n.279T= c.2171T= (p.Val724=) c.2128+5747T= (n.2128+5747T=) n.2379T= n.2587T= c.1796T= (p.Val599=) c.821T= (p.Val274=) c.1535T= (p.Val512=) n.2331T= n.2539T= | |
1 | g.197427704C>A | CA422809309 | CRB1 | c.2379C>A (p.Val793=) c.1260C>A (p.Val420=) c.522C>A (p.Val174=) c.2043C>A (p.Val681=) n.280C>A c.2172C>A (p.Val724=) c.2128+5748C>A (n.2128+5748C>A) n.2380C>A n.2588C>A c.1797C>A (p.Val599=) c.822C>A (p.Val274=) c.1536C>A (p.Val512=) n.2332C>A n.2540C>A | |
1 | g.197427704C>G | CA422809311 | CRB1 | c.2379C>G (p.Val793=) c.1260C>G (p.Val420=) c.522C>G (p.Val174=) c.2043C>G (p.Val681=) n.280C>G c.2172C>G (p.Val724=) c.2128+5748C>G (n.2128+5748C>G) n.2380C>G n.2588C>G c.1797C>G (p.Val599=) c.822C>G (p.Val274=) c.1536C>G (p.Val512=) n.2332C>G n.2540C>G | |
1 | g.197427704C>T | CA422809313 | CRB1 | c.2379C>T (p.Val793=) c.1260C>T (p.Val420=) c.522C>T (p.Val174=) c.2043C>T (p.Val681=) n.280C>T c.2172C>T (p.Val724=) c.2128+5748C>T (n.2128+5748C>T) n.2380C>T n.2588C>T c.1797C>T (p.Val599=) c.822C>T (p.Val274=) c.1536C>T (p.Val512=) n.2332C>T n.2540C>T | ClinVar dbSNP |
1 | g.197427705C>A | CA344037086 | CRB1 | c.2380C>A (p.His794Asn) c.1261C>A (p.His421Asn) c.523C>A (p.His175Asn) c.2044C>A (p.His682Asn) n.281C>A c.2173C>A (p.His725Asn) c.2128+5749C>A (n.2128+5749C>A) n.2381C>A n.2589C>A c.1798C>A (p.His600Asn) c.823C>A (p.His275Asn) c.1537C>A (p.His513Asn) n.2333C>A n.2541C>A | ClinVar dbSNP |
1 | g.197427705C= | CA1218066195 | CRB1 | c.2380C= (p.His794=) c.1261C= (p.His421=) c.523C= (p.His175=) c.2044C= (p.His682=) n.281C= c.2173C= (p.His725=) c.2128+5749C= (n.2128+5749C=) n.2381C= n.2589C= c.1798C= (p.His600=) c.823C= (p.His275=) c.1537C= (p.His513=) n.2333C= n.2541C= | |
1 | g.197427705C>G | CA344037088 | CRB1 | c.2380C>G (p.His794Asp) c.1261C>G (p.His421Asp) c.523C>G (p.His175Asp) c.2044C>G (p.His682Asp) n.281C>G c.2173C>G (p.His725Asp) c.2128+5749C>G (n.2128+5749C>G) n.2381C>G n.2589C>G c.1798C>G (p.His600Asp) c.823C>G (p.His275Asp) c.1537C>G (p.His513Asp) n.2333C>G n.2541C>G | |
1 | g.197427705C>T | CA344037087 | CRB1 | c.2380C>T (p.His794Tyr) c.1261C>T (p.His421Tyr) c.523C>T (p.His175Tyr) c.2044C>T (p.His682Tyr) n.281C>T c.2173C>T (p.His725Tyr) c.2128+5749C>T (n.2128+5749C>T) n.2381C>T n.2589C>T c.1798C>T (p.His600Tyr) c.823C>T (p.His275Tyr) c.1537C>T (p.His513Tyr) n.2333C>T n.2541C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427706A>C | CA344037089 | CRB1 | c.2381A>C (p.His794Pro) c.1262A>C (p.His421Pro) c.524A>C (p.His175Pro) c.2045A>C (p.His682Pro) n.282A>C c.2174A>C (p.His725Pro) c.2128+5750A>C (n.2128+5750A>C) n.2382A>C n.2590A>C c.1799A>C (p.His600Pro) c.824A>C (p.His275Pro) c.1538A>C (p.His513Pro) n.2334A>C n.2542A>C | |
1 | g.197427706A>G | CA344037092 | CRB1 | c.2381A>G (p.His794Arg) c.1262A>G (p.His421Arg) c.524A>G (p.His175Arg) c.2045A>G (p.His682Arg) n.282A>G c.2174A>G (p.His725Arg) c.2128+5750A>G (n.2128+5750A>G) n.2382A>G n.2590A>G c.1799A>G (p.His600Arg) c.824A>G (p.His275Arg) c.1538A>G (p.His513Arg) n.2334A>G n.2542A>G | |
1 | g.197427706A>T | CA344037091 | CRB1 | c.2381A>T (p.His794Leu) c.1262A>T (p.His421Leu) c.524A>T (p.His175Leu) c.2045A>T (p.His682Leu) n.282A>T c.2174A>T (p.His725Leu) c.2128+5750A>T (n.2128+5750A>T) n.2382A>T n.2590A>T c.1799A>T (p.His600Leu) c.824A>T (p.His275Leu) c.1538A>T (p.His513Leu) n.2334A>T n.2542A>T | |
1 | g.197427707C>A | CA344037093 | CRB1 | c.2382C>A (p.His794Gln) c.1263C>A (p.His421Gln) c.525C>A (p.His175Gln) c.2046C>A (p.His682Gln) n.283C>A c.2175C>A (p.His725Gln) c.2128+5751C>A (n.2128+5751C>A) n.2383C>A n.2591C>A c.1800C>A (p.His600Gln) c.825C>A (p.His275Gln) c.1539C>A (p.His513Gln) n.2335C>A n.2543C>A | |
1 | g.197427707C= | CA1218066201 | CRB1 | c.2382C= (p.His794=) c.1263C= (p.His421=) c.525C= (p.His175=) c.2046C= (p.His682=) n.283C= c.2175C= (p.His725=) c.2128+5751C= (n.2128+5751C=) n.2383C= n.2591C= c.1800C= (p.His600=) c.825C= (p.His275=) c.1539C= (p.His513=) n.2335C= n.2543C= | |
1 | g.197427707C>G | CA344037094 | CRB1 | c.2382C>G (p.His794Gln) c.1263C>G (p.His421Gln) c.525C>G (p.His175Gln) c.2046C>G (p.His682Gln) n.283C>G c.2175C>G (p.His725Gln) c.2128+5751C>G (n.2128+5751C>G) n.2383C>G n.2591C>G c.1800C>G (p.His600Gln) c.825C>G (p.His275Gln) c.1539C>G (p.His513Gln) n.2335C>G n.2543C>G | ClinVar dbSNP gnomAD v4 |
1 | g.197427707C>T | CA422809320 | CRB1 | c.2382C>T (p.His794=) c.1263C>T (p.His421=) c.525C>T (p.His175=) c.2046C>T (p.His682=) n.283C>T c.2175C>T (p.His725=) c.2128+5751C>T (n.2128+5751C>T) n.2383C>T n.2591C>T c.1800C>T (p.His600=) c.825C>T (p.His275=) c.1539C>T (p.His513=) n.2335C>T n.2543C>T | ClinVar |
1 | g.197427708T>A | CA344037095 | CRB1 | c.2383T>A (p.Leu795Met) c.1264T>A (p.Leu422Met) c.526T>A (p.Leu176Met) c.2047T>A (p.Leu683Met) n.284T>A c.2176T>A (p.Leu726Met) c.2128+5752T>A (n.2128+5752T>A) n.2384T>A n.2592T>A c.1801T>A (p.Leu601Met) c.826T>A (p.Leu276Met) c.1540T>A (p.Leu514Met) n.2336T>A n.2544T>A | |
1 | g.197427708T>C | CA422809325 | CRB1 | c.2383T>C (p.Leu795=) c.1264T>C (p.Leu422=) c.526T>C (p.Leu176=) c.2047T>C (p.Leu683=) n.284T>C c.2176T>C (p.Leu726=) c.2128+5752T>C (n.2128+5752T>C) n.2384T>C n.2592T>C c.1801T>C (p.Leu601=) c.826T>C (p.Leu276=) c.1540T>C (p.Leu514=) n.2336T>C n.2544T>C | |
1 | g.197427708T>G | CA344037096 | CRB1 | c.2383T>G (p.Leu795Val) c.1264T>G (p.Leu422Val) c.526T>G (p.Leu176Val) c.2047T>G (p.Leu683Val) n.284T>G c.2176T>G (p.Leu726Val) c.2128+5752T>G (n.2128+5752T>G) n.2384T>G n.2592T>G c.1801T>G (p.Leu601Val) c.826T>G (p.Leu276Val) c.1540T>G (p.Leu514Val) n.2336T>G n.2544T>G | |
1 | g.197427709T>A | CA344037097 | CRB1 | c.2384T>A (p.Leu795Ter) c.1265T>A (p.Leu422Ter) c.527T>A (p.Leu176Ter) c.2048T>A (p.Leu683Ter) n.285T>A c.2177T>A (p.Leu726Ter) c.2128+5753T>A (n.2128+5753T>A) n.2385T>A n.2593T>A c.1802T>A (p.Leu601Ter) c.827T>A (p.Leu276Ter) c.1541T>A (p.Leu514Ter) n.2337T>A n.2545T>A | |
1 | g.197427709T>C | CA344037098 | CRB1 | c.2384T>C (p.Leu795Ser) c.1265T>C (p.Leu422Ser) c.527T>C (p.Leu176Ser) c.2048T>C (p.Leu683Ser) n.285T>C c.2177T>C (p.Leu726Ser) c.2128+5753T>C (n.2128+5753T>C) n.2385T>C n.2593T>C c.1802T>C (p.Leu601Ser) c.827T>C (p.Leu276Ser) c.1541T>C (p.Leu514Ser) n.2337T>C n.2545T>C | |
1 | g.197427709T>G | CA344037099 | CRB1 | c.2384T>G (p.Leu795Trp) c.1265T>G (p.Leu422Trp) c.527T>G (p.Leu176Trp) c.2048T>G (p.Leu683Trp) n.285T>G c.2177T>G (p.Leu726Trp) c.2128+5753T>G (n.2128+5753T>G) n.2385T>G n.2593T>G c.1802T>G (p.Leu601Trp) c.827T>G (p.Leu276Trp) c.1541T>G (p.Leu514Trp) n.2337T>G n.2545T>G | |
1 | g.197427710G>A | CA422809329 | CRB1 | c.2385G>A (p.Leu795=) c.1266G>A (p.Leu422=) c.528G>A (p.Leu176=) c.2049G>A (p.Leu683=) n.286G>A c.2178G>A (p.Leu726=) c.2128+5754G>A (n.2128+5754G>A) n.2386G>A n.2594G>A c.1803G>A (p.Leu601=) c.828G>A (p.Leu276=) c.1542G>A (p.Leu514=) n.2338G>A n.2546G>A | |
1 | g.197427710G>C | CA344037100 | CRB1 | c.2385G>C (p.Leu795Phe) c.1266G>C (p.Leu422Phe) c.528G>C (p.Leu176Phe) c.2049G>C (p.Leu683Phe) n.286G>C c.2178G>C (p.Leu726Phe) c.2128+5754G>C (n.2128+5754G>C) n.2386G>C n.2594G>C c.1803G>C (p.Leu601Phe) c.828G>C (p.Leu276Phe) c.1542G>C (p.Leu514Phe) n.2338G>C n.2546G>C | |
1 | g.197427710G>T | CA344037101 | CRB1 | c.2385G>T (p.Leu795Phe) c.1266G>T (p.Leu422Phe) c.528G>T (p.Leu176Phe) c.2049G>T (p.Leu683Phe) n.286G>T c.2178G>T (p.Leu726Phe) c.2128+5754G>T (n.2128+5754G>T) n.2386G>T n.2594G>T c.1803G>T (p.Leu601Phe) c.828G>T (p.Leu276Phe) c.1542G>T (p.Leu514Phe) n.2338G>T n.2546G>T | |
1 | g.197427711A>C | CA344037102 | CRB1 | c.2386A>C (p.Ile796Leu) c.1267A>C (p.Ile423Leu) c.529A>C (p.Ile177Leu) c.2050A>C (p.Ile684Leu) n.287A>C c.2179A>C (p.Ile727Leu) c.2128+5755A>C (n.2128+5755A>C) n.2387A>C n.2595A>C c.1804A>C (p.Ile602Leu) c.829A>C (p.Ile277Leu) c.1543A>C (p.Ile515Leu) n.2339A>C n.2547A>C | |
1 | g.197427711A>G | CA344037103 | CRB1 | c.2386A>G (p.Ile796Val) c.1267A>G (p.Ile423Val) c.529A>G (p.Ile177Val) c.2050A>G (p.Ile684Val) n.287A>G c.2179A>G (p.Ile727Val) c.2128+5755A>G (n.2128+5755A>G) n.2387A>G n.2595A>G c.1804A>G (p.Ile602Val) c.829A>G (p.Ile277Val) c.1543A>G (p.Ile515Val) n.2339A>G n.2547A>G | |
1 | g.197427711A>T | CA344037104 | CRB1 | c.2386A>T (p.Ile796Leu) c.1267A>T (p.Ile423Leu) c.529A>T (p.Ile177Leu) c.2050A>T (p.Ile684Leu) n.287A>T c.2179A>T (p.Ile727Leu) c.2128+5755A>T (n.2128+5755A>T) n.2387A>T n.2595A>T c.1804A>T (p.Ile602Leu) c.829A>T (p.Ile277Leu) c.1543A>T (p.Ile515Leu) n.2339A>T n.2547A>T | |
1 | g.197427712T>A | CA344037107 | CRB1 | c.2387T>A (p.Ile796Lys) c.1268T>A (p.Ile423Lys) c.530T>A (p.Ile177Lys) c.2051T>A (p.Ile684Lys) n.288T>A c.2180T>A (p.Ile727Lys) c.2128+5756T>A (n.2128+5756T>A) n.2388T>A n.2596T>A c.1805T>A (p.Ile602Lys) c.830T>A (p.Ile277Lys) c.1544T>A (p.Ile515Lys) n.2340T>A n.2548T>A | |
1 | g.197427712T>C | CA344037105 | CRB1 | c.2387T>C (p.Ile796Thr) c.1268T>C (p.Ile423Thr) c.530T>C (p.Ile177Thr) c.2051T>C (p.Ile684Thr) n.288T>C c.2180T>C (p.Ile727Thr) c.2128+5756T>C (n.2128+5756T>C) n.2388T>C n.2596T>C c.1805T>C (p.Ile602Thr) c.830T>C (p.Ile277Thr) c.1544T>C (p.Ile515Thr) n.2340T>C n.2548T>C | ClinVar |
1 | g.197427712T>G | CA344037106 | CRB1 | c.2387T>G (p.Ile796Arg) c.1268T>G (p.Ile423Arg) c.530T>G (p.Ile177Arg) c.2051T>G (p.Ile684Arg) n.288T>G c.2180T>G (p.Ile727Arg) c.2128+5756T>G (n.2128+5756T>G) n.2388T>G n.2596T>G c.1805T>G (p.Ile602Arg) c.830T>G (p.Ile277Arg) c.1544T>G (p.Ile515Arg) n.2340T>G n.2548T>G | |
1 | g.197427713A>C | CA422808696 | CRB1 | c.2388A>C (p.Ile796=) c.1269A>C (p.Ile423=) c.531A>C (p.Ile177=) c.2052A>C (p.Ile684=) n.289A>C c.2181A>C (p.Ile727=) c.2128+5757A>C (n.2128+5757A>C) n.2389A>C n.2597A>C c.1806A>C (p.Ile602=) c.831A>C (p.Ile277=) c.1545A>C (p.Ile515=) n.2341A>C n.2549A>C | |
1 | g.197427713A>G | CA344037108 | CRB1 | c.2388A>G (p.Ile796Met) c.1269A>G (p.Ile423Met) c.531A>G (p.Ile177Met) c.2052A>G (p.Ile684Met) n.289A>G c.2181A>G (p.Ile727Met) c.2128+5757A>G (n.2128+5757A>G) n.2389A>G n.2597A>G c.1806A>G (p.Ile602Met) c.831A>G (p.Ile277Met) c.1545A>G (p.Ile515Met) n.2341A>G n.2549A>G | |
1 | g.197427713A>T | CA422808700 | CRB1 | c.2388A>T (p.Ile796=) c.1269A>T (p.Ile423=) c.531A>T (p.Ile177=) c.2052A>T (p.Ile684=) n.289A>T c.2181A>T (p.Ile727=) c.2128+5757A>T (n.2128+5757A>T) n.2389A>T n.2597A>T c.1806A>T (p.Ile602=) c.831A>T (p.Ile277=) c.1545A>T (p.Ile515=) n.2341A>T n.2549A>T | |
1 | g.197427713_197427715del | CA2830534959 | CRB1 | c.2388_2390del (p.Ser797del) c.1269_1271del (p.Ser424del) c.531_533del (p.Ser178del) c.2052_2054del (p.Ser685del) n.289_291del c.2181_2183del (p.Ser728del) c.2128+5757_2128+5759del (n.2128+5757_2128+5759del) n.2389_2391del n.2597_2599del c.1806_1808del (p.Ser603del) c.831_833del (p.Ser278del) c.1545_1547del (p.Ser516del) n.2341_2343del n.2549_2551del | |
1 | g.197427714T>A | CA344037109 | CRB1 | c.2389T>A (p.Ser797Thr) c.1270T>A (p.Ser424Thr) c.532T>A (p.Ser178Thr) c.2053T>A (p.Ser685Thr) n.290T>A c.2182T>A (p.Ser728Thr) c.2128+5758T>A (n.2128+5758T>A) n.2390T>A n.2598T>A c.1807T>A (p.Ser603Thr) c.832T>A (p.Ser278Thr) c.1546T>A (p.Ser516Thr) n.2342T>A n.2550T>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427714T>C | CA344037110 | CRB1 | c.2389T>C (p.Ser797Pro) c.1270T>C (p.Ser424Pro) c.532T>C (p.Ser178Pro) c.2053T>C (p.Ser685Pro) n.290T>C c.2182T>C (p.Ser728Pro) c.2128+5758T>C (n.2128+5758T>C) n.2390T>C n.2598T>C c.1807T>C (p.Ser603Pro) c.832T>C (p.Ser278Pro) c.1546T>C (p.Ser516Pro) n.2342T>C n.2550T>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427714T>G | CA344037111 | CRB1 | c.2389T>G (p.Ser797Ala) c.1270T>G (p.Ser424Ala) c.532T>G (p.Ser178Ala) c.2053T>G (p.Ser685Ala) n.290T>G c.2182T>G (p.Ser728Ala) c.2128+5758T>G (n.2128+5758T>G) n.2390T>G n.2598T>G c.1807T>G (p.Ser603Ala) c.832T>G (p.Ser278Ala) c.1546T>G (p.Ser516Ala) n.2342T>G n.2550T>G | |
1 | g.197427714T= | CA1218066204 | CRB1 | c.2389T= (p.Ser797=) c.1270T= (p.Ser424=) c.532T= (p.Ser178=) c.2053T= (p.Ser685=) n.290T= c.2182T= (p.Ser728=) c.2128+5758T= (n.2128+5758T=) n.2390T= n.2598T= c.1807T= (p.Ser603=) c.832T= (p.Ser278=) c.1546T= (p.Ser516=) n.2342T= n.2550T= | |
1 | g.197427715C>A | CA344037112 | CRB1 | c.2390C>A (p.Ser797Tyr) c.1271C>A (p.Ser424Tyr) c.533C>A (p.Ser178Tyr) c.2054C>A (p.Ser685Tyr) n.291C>A c.2183C>A (p.Ser728Tyr) c.2128+5759C>A (n.2128+5759C>A) n.2391C>A n.2599C>A c.1808C>A (p.Ser603Tyr) c.833C>A (p.Ser278Tyr) c.1547C>A (p.Ser516Tyr) n.2343C>A n.2551C>A | |
1 | g.197427715C>G | CA344037113 | CRB1 | c.2390C>G (p.Ser797Cys) c.1271C>G (p.Ser424Cys) c.533C>G (p.Ser178Cys) c.2054C>G (p.Ser685Cys) n.291C>G c.2183C>G (p.Ser728Cys) c.2128+5759C>G (n.2128+5759C>G) n.2391C>G n.2599C>G c.1808C>G (p.Ser603Cys) c.833C>G (p.Ser278Cys) c.1547C>G (p.Ser516Cys) n.2343C>G n.2551C>G | |
1 | g.197427715C>T | CA344037114 | CRB1 | c.2390C>T (p.Ser797Phe) c.1271C>T (p.Ser424Phe) c.533C>T (p.Ser178Phe) c.2054C>T (p.Ser685Phe) n.291C>T c.2183C>T (p.Ser728Phe) c.2128+5759C>T (n.2128+5759C>T) n.2391C>T n.2599C>T c.1808C>T (p.Ser603Phe) c.833C>T (p.Ser278Phe) c.1547C>T (p.Ser516Phe) n.2343C>T n.2551C>T | COSMIC COSMIC |
1 | g.197427716T>A | CA422808706 | CRB1 | c.2391T>A (p.Ser797=) c.1272T>A (p.Ser424=) c.534T>A (p.Ser178=) c.2055T>A (p.Ser685=) n.292T>A c.2184T>A (p.Ser728=) c.2128+5760T>A (n.2128+5760T>A) n.2392T>A n.2600T>A c.1809T>A (p.Ser603=) c.834T>A (p.Ser278=) c.1548T>A (p.Ser516=) n.2344T>A n.2552T>A | |
1 | g.197427716T>C | CA1312114 | CRB1 | c.2391T>C (p.Ser797=) c.1272T>C (p.Ser424=) c.534T>C (p.Ser178=) c.2055T>C (p.Ser685=) n.292T>C c.2184T>C (p.Ser728=) c.2128+5760T>C (n.2128+5760T>C) n.2392T>C n.2600T>C c.1809T>C (p.Ser603=) c.834T>C (p.Ser278=) c.1548T>C (p.Ser516=) n.2344T>C n.2552T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427716T>G | CA422808707 | CRB1 | c.2391T>G (p.Ser797=) c.1272T>G (p.Ser424=) c.534T>G (p.Ser178=) c.2055T>G (p.Ser685=) n.292T>G c.2184T>G (p.Ser728=) c.2128+5760T>G (n.2128+5760T>G) n.2392T>G n.2600T>G c.1809T>G (p.Ser603=) c.834T>G (p.Ser278=) c.1548T>G (p.Ser516=) n.2344T>G n.2552T>G | |
1 | g.197427716T= | CA1149143994 | CRB1 | c.2391T= (p.Ser797=) c.1272T= (p.Ser424=) c.534T= (p.Ser178=) c.2055T= (p.Ser685=) n.292T= c.2184T= (p.Ser728=) c.2128+5760T= (n.2128+5760T=) n.2392T= n.2600T= c.1809T= (p.Ser603=) c.834T= (p.Ser278=) c.1548T= (p.Ser516=) n.2344T= n.2552T= | |
1 | g.197427717T>A | CA344037115 | CRB1 | c.2392T>A (p.Leu798Met) c.1273T>A (p.Leu425Met) c.535T>A (p.Leu179Met) c.2056T>A (p.Leu686Met) n.293T>A c.2185T>A (p.Leu729Met) c.2128+5761T>A (n.2128+5761T>A) n.2393T>A n.2601T>A c.1810T>A (p.Leu604Met) c.835T>A (p.Leu279Met) c.1549T>A (p.Leu517Met) n.2345T>A n.2553T>A | |
1 | g.197427717T>C | CA422808709 | CRB1 | c.2392T>C (p.Leu798=) c.1273T>C (p.Leu425=) c.535T>C (p.Leu179=) c.2056T>C (p.Leu686=) n.293T>C c.2185T>C (p.Leu729=) c.2128+5761T>C (n.2128+5761T>C) n.2393T>C n.2601T>C c.1810T>C (p.Leu604=) c.835T>C (p.Leu279=) c.1549T>C (p.Leu517=) n.2345T>C n.2553T>C | |
1 | g.197427717T>G | CA344037116 | CRB1 | c.2392T>G (p.Leu798Val) c.1273T>G (p.Leu425Val) c.535T>G (p.Leu179Val) c.2056T>G (p.Leu686Val) n.293T>G c.2185T>G (p.Leu729Val) c.2128+5761T>G (n.2128+5761T>G) n.2393T>G n.2601T>G c.1810T>G (p.Leu604Val) c.835T>G (p.Leu279Val) c.1549T>G (p.Leu517Val) n.2345T>G n.2553T>G | |
1 | g.197427718T>A | CA344037119 | CRB1 | c.2393T>A (p.Leu798Ter) c.1274T>A (p.Leu425Ter) c.536T>A (p.Leu179Ter) c.2057T>A (p.Leu686Ter) n.294T>A c.2186T>A (p.Leu729Ter) c.2128+5762T>A (n.2128+5762T>A) n.2394T>A n.2602T>A c.1811T>A (p.Leu604Ter) c.836T>A (p.Leu279Ter) c.1550T>A (p.Leu517Ter) n.2346T>A n.2554T>A | ClinVar dbSNP |
1 | g.197427718T>C | CA344037118 | CRB1 | c.2393T>C (p.Leu798Ser) c.1274T>C (p.Leu425Ser) c.536T>C (p.Leu179Ser) c.2057T>C (p.Leu686Ser) n.294T>C c.2186T>C (p.Leu729Ser) c.2128+5762T>C (n.2128+5762T>C) n.2394T>C n.2602T>C c.1811T>C (p.Leu604Ser) c.836T>C (p.Leu279Ser) c.1550T>C (p.Leu517Ser) n.2346T>C n.2554T>C | |
1 | g.197427718T>G | CA344037117 | CRB1 | c.2393T>G (p.Leu798Trp) c.1274T>G (p.Leu425Trp) c.536T>G (p.Leu179Trp) c.2057T>G (p.Leu686Trp) n.294T>G c.2186T>G (p.Leu729Trp) c.2128+5762T>G (n.2128+5762T>G) n.2394T>G n.2602T>G c.1811T>G (p.Leu604Trp) c.836T>G (p.Leu279Trp) c.1550T>G (p.Leu517Trp) n.2346T>G n.2554T>G | |
1 | g.197427719G>A | CA422808711 | CRB1 | c.2394G>A (p.Leu798=) c.1275G>A (p.Leu425=) c.537G>A (p.Leu179=) c.2058G>A (p.Leu686=) n.295G>A c.2187G>A (p.Leu729=) c.2128+5763G>A (n.2128+5763G>A) n.2395G>A n.2603G>A c.1812G>A (p.Leu604=) c.837G>A (p.Leu279=) c.1551G>A (p.Leu517=) n.2347G>A n.2555G>A | |
1 | g.197427719G>C | CA344037120 | CRB1 | c.2394G>C (p.Leu798Phe) c.1275G>C (p.Leu425Phe) c.537G>C (p.Leu179Phe) c.2058G>C (p.Leu686Phe) n.295G>C c.2187G>C (p.Leu729Phe) c.2128+5763G>C (n.2128+5763G>C) n.2395G>C n.2603G>C c.1812G>C (p.Leu604Phe) c.837G>C (p.Leu279Phe) c.1551G>C (p.Leu517Phe) n.2347G>C n.2555G>C | |
1 | g.197427719G>T | CA344037121 | CRB1 | c.2394G>T (p.Leu798Phe) c.1275G>T (p.Leu425Phe) c.537G>T (p.Leu179Phe) c.2058G>T (p.Leu686Phe) n.295G>T c.2187G>T (p.Leu729Phe) c.2128+5763G>T (n.2128+5763G>T) n.2395G>T n.2603G>T c.1812G>T (p.Leu604Phe) c.837G>T (p.Leu279Phe) c.1551G>T (p.Leu517Phe) n.2347G>T n.2555G>T | gnomAD v4 COSMIC COSMIC |
1 | g.197427720A>C | CA344037123 | CRB1 | c.2395A>C (p.Lys799Gln) c.1276A>C (p.Lys426Gln) c.538A>C (p.Lys180Gln) c.2059A>C (p.Lys687Gln) n.296A>C c.2188A>C (p.Lys730Gln) c.2128+5764A>C (n.2128+5764A>C) n.2396A>C n.2604A>C c.1813A>C (p.Lys605Gln) c.838A>C (p.Lys280Gln) c.1552A>C (p.Lys518Gln) n.2348A>C n.2556A>C | |
1 | g.197427720A>G | CA344037125 | CRB1 | c.2395A>G (p.Lys799Glu) c.1276A>G (p.Lys426Glu) c.538A>G (p.Lys180Glu) c.2059A>G (p.Lys687Glu) n.296A>G c.2188A>G (p.Lys730Glu) c.2128+5764A>G (n.2128+5764A>G) n.2396A>G n.2604A>G c.1813A>G (p.Lys605Glu) c.838A>G (p.Lys280Glu) c.1552A>G (p.Lys518Glu) n.2348A>G n.2556A>G | |
1 | g.197427720A>T | CA344037126 | CRB1 | c.2395A>T (p.Lys799Ter) c.1276A>T (p.Lys426Ter) c.538A>T (p.Lys180Ter) c.2059A>T (p.Lys687Ter) n.296A>T c.2188A>T (p.Lys730Ter) c.2128+5764A>T (n.2128+5764A>T) n.2396A>T n.2604A>T c.1813A>T (p.Lys605Ter) c.838A>T (p.Lys280Ter) c.1552A>T (p.Lys518Ter) n.2348A>T n.2556A>T | |
1 | g.197427721A>C | CA344037129 | CRB1 | c.2396A>C (p.Lys799Thr) c.1277A>C (p.Lys426Thr) c.539A>C (p.Lys180Thr) c.2060A>C (p.Lys687Thr) n.297A>C c.2189A>C (p.Lys730Thr) c.2128+5765A>C (n.2128+5765A>C) n.2397A>C n.2605A>C c.1814A>C (p.Lys605Thr) c.839A>C (p.Lys280Thr) c.1553A>C (p.Lys518Thr) n.2349A>C n.2557A>C | |
1 | g.197427721A>G | CA344037130 | CRB1 | c.2396A>G (p.Lys799Arg) c.1277A>G (p.Lys426Arg) c.539A>G (p.Lys180Arg) c.2060A>G (p.Lys687Arg) n.297A>G c.2189A>G (p.Lys730Arg) c.2128+5765A>G (n.2128+5765A>G) n.2397A>G n.2605A>G c.1814A>G (p.Lys605Arg) c.839A>G (p.Lys280Arg) c.1553A>G (p.Lys518Arg) n.2349A>G n.2557A>G | |
1 | g.197427721A>T | CA344037132 | CRB1 | c.2396A>T (p.Lys799Ile) c.1277A>T (p.Lys426Ile) c.539A>T (p.Lys180Ile) c.2060A>T (p.Lys687Ile) n.297A>T c.2189A>T (p.Lys730Ile) c.2128+5765A>T (n.2128+5765A>T) n.2397A>T n.2605A>T c.1814A>T (p.Lys605Ile) c.839A>T (p.Lys280Ile) c.1553A>T (p.Lys518Ile) n.2349A>T n.2557A>T | |
1 | g.197427722A>C | CA344037133 | CRB1 | c.2397A>C (p.Lys799Asn) c.1278A>C (p.Lys426Asn) c.540A>C (p.Lys180Asn) c.2061A>C (p.Lys687Asn) n.298A>C c.2190A>C (p.Lys730Asn) c.2128+5766A>C (n.2128+5766A>C) n.2398A>C n.2606A>C c.1815A>C (p.Lys605Asn) c.840A>C (p.Lys280Asn) c.1554A>C (p.Lys518Asn) n.2350A>C n.2558A>C | |
1 | g.197427722A>G | CA422808712 | CRB1 | c.2397A>G (p.Lys799=) c.1278A>G (p.Lys426=) c.540A>G (p.Lys180=) c.2061A>G (p.Lys687=) n.298A>G c.2190A>G (p.Lys730=) c.2128+5766A>G (n.2128+5766A>G) n.2398A>G n.2606A>G c.1815A>G (p.Lys605=) c.840A>G (p.Lys280=) c.1554A>G (p.Lys518=) n.2350A>G n.2558A>G | |
1 | g.197427722A>T | CA344037135 | CRB1 | c.2397A>T (p.Lys799Asn) c.1278A>T (p.Lys426Asn) c.540A>T (p.Lys180Asn) c.2061A>T (p.Lys687Asn) n.298A>T c.2190A>T (p.Lys730Asn) c.2128+5766A>T (n.2128+5766A>T) n.2398A>T n.2606A>T c.1815A>T (p.Lys605Asn) c.840A>T (p.Lys280Asn) c.1554A>T (p.Lys518Asn) n.2350A>T n.2558A>T | |
1 | g.197427722_197427723insGAT | CA2830534962 | CRB1 | c.2397_2398insGAT (p.Lys799_Ile800insAsp) c.1278_1279insGAT (p.Lys426_Ile427insAsp) c.540_541insGAT (p.Lys180_Ile181insAsp) c.2061_2062insGAT (p.Lys687_Ile688insAsp) n.298_299insGAT c.2190_2191insGAT (p.Lys730_Ile731insAsp) c.2128+5766_2128+5767insGAT (n.2128+5766_2128+5767insGAT) n.2398_2399insGAT n.2606_2607insGAT c.1815_1816insGAT (p.Lys605_Ile606insAsp) c.840_841insGAT (p.Lys280_Ile281insAsp) c.1554_1555insGAT (p.Lys518_Ile519insAsp) n.2350_2351insGAT n.2558_2559insGAT | |
1 | g.197427723A= | CA1140913823 | CRB1 | c.2398A= (p.Ile800=) c.1279A= (p.Ile427=) c.541A= (p.Ile181=) c.2062A= (p.Ile688=) n.299A= c.2191A= (p.Ile731=) c.2128+5767A= (n.2128+5767A=) n.2399A= n.2607A= c.1816A= (p.Ile606=) c.841A= (p.Ile281=) c.1555A= (p.Ile519=) n.2351A= n.2559A= | |
1 | g.197427723A>C | CA344037138 | CRB1 | c.2398A>C (p.Ile800Leu) c.1279A>C (p.Ile427Leu) c.541A>C (p.Ile181Leu) c.2062A>C (p.Ile688Leu) n.299A>C c.2191A>C (p.Ile731Leu) c.2128+5767A>C (n.2128+5767A>C) n.2399A>C n.2607A>C c.1816A>C (p.Ile606Leu) c.841A>C (p.Ile281Leu) c.1555A>C (p.Ile519Leu) n.2351A>C n.2559A>C | |
1 | g.197427723A>G | CA1312115 | CRB1 | c.2398A>G (p.Ile800Val) c.1279A>G (p.Ile427Val) c.541A>G (p.Ile181Val) c.2062A>G (p.Ile688Val) n.299A>G c.2191A>G (p.Ile731Val) c.2128+5767A>G (n.2128+5767A>G) n.2399A>G n.2607A>G c.1816A>G (p.Ile606Val) c.841A>G (p.Ile281Val) c.1555A>G (p.Ile519Val) n.2351A>G n.2559A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427723A>T | CA344037140 | CRB1 | c.2398A>T (p.Ile800Phe) c.1279A>T (p.Ile427Phe) c.541A>T (p.Ile181Phe) c.2062A>T (p.Ile688Phe) n.299A>T c.2191A>T (p.Ile731Phe) c.2128+5767A>T (n.2128+5767A>T) n.2399A>T n.2607A>T c.1816A>T (p.Ile606Phe) c.841A>T (p.Ile281Phe) c.1555A>T (p.Ile519Phe) n.2351A>T n.2559A>T | |
1 | g.197427724T>A | CA344037142 | CRB1 | c.2399T>A (p.Ile800Asn) c.1280T>A (p.Ile427Asn) c.542T>A (p.Ile181Asn) c.2063T>A (p.Ile688Asn) n.300T>A c.2192T>A (p.Ile731Asn) c.2128+5768T>A (n.2128+5768T>A) n.2400T>A n.2608T>A c.1817T>A (p.Ile606Asn) c.842T>A (p.Ile281Asn) c.1556T>A (p.Ile519Asn) n.2352T>A n.2560T>A | |
1 | g.197427724T>C | CA344037147 | CRB1 | c.2399T>C (p.Ile800Thr) c.1280T>C (p.Ile427Thr) c.542T>C (p.Ile181Thr) c.2063T>C (p.Ile688Thr) n.300T>C c.2192T>C (p.Ile731Thr) c.2128+5768T>C (n.2128+5768T>C) n.2400T>C n.2608T>C c.1817T>C (p.Ile606Thr) c.842T>C (p.Ile281Thr) c.1556T>C (p.Ile519Thr) n.2352T>C n.2560T>C | |
1 | g.197427724T>G | CA344037145 | CRB1 | c.2399T>G (p.Ile800Ser) c.1280T>G (p.Ile427Ser) c.542T>G (p.Ile181Ser) c.2063T>G (p.Ile688Ser) n.300T>G c.2192T>G (p.Ile731Ser) c.2128+5768T>G (n.2128+5768T>G) n.2400T>G n.2608T>G c.1817T>G (p.Ile606Ser) c.842T>G (p.Ile281Ser) c.1556T>G (p.Ile519Ser) n.2352T>G n.2560T>G | |
1 | g.197427725C>A | CA422808714 | CRB1 | c.2400C>A (p.Ile800=) c.1281C>A (p.Ile427=) c.543C>A (p.Ile181=) c.2064C>A (p.Ile688=) n.301C>A c.2193C>A (p.Ile731=) c.2128+5769C>A (n.2128+5769C>A) n.2401C>A n.2609C>A c.1818C>A (p.Ile606=) c.843C>A (p.Ile281=) c.1557C>A (p.Ile519=) n.2353C>A n.2561C>A | |
1 | g.197427725C>G | CA344037150 | CRB1 | c.2400C>G (p.Ile800Met) c.1281C>G (p.Ile427Met) c.543C>G (p.Ile181Met) c.2064C>G (p.Ile688Met) n.301C>G c.2193C>G (p.Ile731Met) c.2128+5769C>G (n.2128+5769C>G) n.2401C>G n.2609C>G c.1818C>G (p.Ile606Met) c.843C>G (p.Ile281Met) c.1557C>G (p.Ile519Met) n.2353C>G n.2561C>G | |
1 | g.197427725C>T | CA422808715 | CRB1 | c.2400C>T (p.Ile800=) c.1281C>T (p.Ile427=) c.543C>T (p.Ile181=) c.2064C>T (p.Ile688=) n.301C>T c.2193C>T (p.Ile731=) c.2128+5769C>T (n.2128+5769C>T) n.2401C>T n.2609C>T c.1818C>T (p.Ile606=) c.843C>T (p.Ile281=) c.1557C>T (p.Ile519=) n.2353C>T n.2561C>T | gnomAD v4 COSMIC |
1 | g.197427726A= | CA1141581333 | CRB1 | c.2401A= (p.Lys801=) c.1282A= (p.Lys428=) c.544A= (p.Lys182=) c.2065A= (p.Lys689=) n.302A= c.2194A= (p.Lys732=) c.2128+5770A= (n.2128+5770A=) n.2402A= n.2610A= c.1819A= (p.Lys607=) c.844A= (p.Lys282=) c.1558A= (p.Lys520=) n.2354A= n.2562A= | |
1 | g.197427726A>C | CA344037152 | CRB1 | c.2401A>C (p.Lys801Gln) c.1282A>C (p.Lys428Gln) c.544A>C (p.Lys182Gln) c.2065A>C (p.Lys689Gln) n.302A>C c.2194A>C (p.Lys732Gln) c.2128+5770A>C (n.2128+5770A>C) n.2402A>C n.2610A>C c.1819A>C (p.Lys607Gln) c.844A>C (p.Lys282Gln) c.1558A>C (p.Lys520Gln) n.2354A>C n.2562A>C | |
1 | g.197427726A>G | CA344037154 | CRB1 | c.2401A>G (p.Lys801Glu) c.1282A>G (p.Lys428Glu) c.544A>G (p.Lys182Glu) c.2065A>G (p.Lys689Glu) n.302A>G c.2194A>G (p.Lys732Glu) c.2128+5770A>G (n.2128+5770A>G) n.2402A>G n.2610A>G c.1819A>G (p.Lys607Glu) c.844A>G (p.Lys282Glu) c.1558A>G (p.Lys520Glu) n.2354A>G n.2562A>G | |
1 | g.197427726A>T | CA203531 | CRB1 | c.2401A>T (p.Lys801Ter) c.1282A>T (p.Lys428Ter) c.544A>T (p.Lys182Ter) c.2065A>T (p.Lys689Ter) n.302A>T c.2194A>T (p.Lys732Ter) c.2128+5770A>T (n.2128+5770A>T) n.2402A>T n.2610A>T c.1819A>T (p.Lys607Ter) c.844A>T (p.Lys282Ter) c.1558A>T (p.Lys520Ter) n.2354A>T n.2562A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427727A>C | CA344037157 | CRB1 | c.2402A>C (p.Lys801Thr) c.1283A>C (p.Lys428Thr) c.545A>C (p.Lys182Thr) c.2066A>C (p.Lys689Thr) n.303A>C c.2195A>C (p.Lys732Thr) c.2128+5771A>C (n.2128+5771A>C) n.2403A>C n.2611A>C c.1820A>C (p.Lys607Thr) c.845A>C (p.Lys282Thr) c.1559A>C (p.Lys520Thr) n.2355A>C n.2563A>C | |
1 | g.197427727A>G | CA344037159 | CRB1 | c.2402A>G (p.Lys801Arg) c.1283A>G (p.Lys428Arg) c.545A>G (p.Lys182Arg) c.2066A>G (p.Lys689Arg) n.303A>G c.2195A>G (p.Lys732Arg) c.2128+5771A>G (n.2128+5771A>G) n.2403A>G n.2611A>G c.1820A>G (p.Lys607Arg) c.845A>G (p.Lys282Arg) c.1559A>G (p.Lys520Arg) n.2355A>G n.2563A>G | |
1 | g.197427727A>T | CA344037161 | CRB1 | c.2402A>T (p.Lys801Met) c.1283A>T (p.Lys428Met) c.545A>T (p.Lys182Met) c.2066A>T (p.Lys689Met) n.303A>T c.2195A>T (p.Lys732Met) c.2128+5771A>T (n.2128+5771A>T) n.2403A>T n.2611A>T c.1820A>T (p.Lys607Met) c.845A>T (p.Lys282Met) c.1559A>T (p.Lys520Met) n.2355A>T n.2563A>T | |
1 | g.197427728G>A | CA1312116 | CRB1 | c.2403G>A (p.Lys801=) c.1284G>A (p.Lys428=) c.546G>A (p.Lys182=) c.2067G>A (p.Lys689=) n.304G>A c.2196G>A (p.Lys732=) c.2128+5772G>A (n.2128+5772G>A) n.2404G>A n.2612G>A c.1821G>A (p.Lys607=) c.846G>A (p.Lys282=) c.1560G>A (p.Lys520=) n.2356G>A n.2564G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427728G>C | CA344037164 | CRB1 | c.2403G>C (p.Lys801Asn) c.1284G>C (p.Lys428Asn) c.546G>C (p.Lys182Asn) c.2067G>C (p.Lys689Asn) n.304G>C c.2196G>C (p.Lys732Asn) c.2128+5772G>C (n.2128+5772G>C) n.2404G>C n.2612G>C c.1821G>C (p.Lys607Asn) c.846G>C (p.Lys282Asn) c.1560G>C (p.Lys520Asn) n.2356G>C n.2564G>C | |
1 | g.197427728G= | CA1147340957 | CRB1 | c.2403G= (p.Lys801=) c.1284G= (p.Lys428=) c.546G= (p.Lys182=) c.2067G= (p.Lys689=) n.304G= c.2196G= (p.Lys732=) c.2128+5772G= (n.2128+5772G=) n.2404G= n.2612G= c.1821G= (p.Lys607=) c.846G= (p.Lys282=) c.1560G= (p.Lys520=) n.2356G= n.2564G= | |
1 | g.197427728G>T | CA344037166 | CRB1 | c.2403G>T (p.Lys801Asn) c.1284G>T (p.Lys428Asn) c.546G>T (p.Lys182Asn) c.2067G>T (p.Lys689Asn) n.304G>T c.2196G>T (p.Lys732Asn) c.2128+5772G>T (n.2128+5772G>T) n.2404G>T n.2612G>T c.1821G>T (p.Lys607Asn) c.846G>T (p.Lys282Asn) c.1560G>T (p.Lys520Asn) n.2356G>T n.2564G>T | |
1 | g.197427728_197427729insTGGA | CA2830534963 | CRB1 | c.2403_2404insTGGA (p.Pro802TrpfsTer4) c.1284_1285insTGGA (p.Pro429TrpfsTer4) c.546_547insTGGA (p.Pro183TrpfsTer4) c.2067_2068insTGGA (p.Pro690TrpfsTer4) n.304_305insTGGA c.2196_2197insTGGA (p.Pro733TrpfsTer4) c.2128+5772_2128+5773insTGGA (n.2128+5772_2128+5773insTGGA) n.2404_2405insTGGA n.2612_2613insTGGA c.1821_1822insTGGA (p.Pro608TrpfsTer4) c.846_847insTGGA (p.Pro283TrpfsTer4) c.1560_1561insTGGA (p.Pro521TrpfsTer4) n.2356_2357insTGGA n.2564_2565insTGGA | |
1 | g.197427729C>A | CA344037172 | CRB1 | c.2404C>A (p.Pro802Thr) c.1285C>A (p.Pro429Thr) c.547C>A (p.Pro183Thr) c.2068C>A (p.Pro690Thr) n.305C>A c.2197C>A (p.Pro733Thr) c.2128+5773C>A (n.2128+5773C>A) n.2405C>A n.2613C>A c.1822C>A (p.Pro608Thr) c.847C>A (p.Pro283Thr) c.1561C>A (p.Pro521Thr) n.2357C>A n.2565C>A | gnomAD v4 |
1 | g.197427729C= | CA1218066215 | CRB1 | c.2404C= (p.Pro802=) c.1285C= (p.Pro429=) c.547C= (p.Pro183=) c.2068C= (p.Pro690=) n.305C= c.2197C= (p.Pro733=) c.2128+5773C= (n.2128+5773C=) n.2405C= n.2613C= c.1822C= (p.Pro608=) c.847C= (p.Pro283=) c.1561C= (p.Pro521=) n.2357C= n.2565C= | |
1 | g.197427729C>G | CA344037170 | CRB1 | c.2404C>G (p.Pro802Ala) c.1285C>G (p.Pro429Ala) c.547C>G (p.Pro183Ala) c.2068C>G (p.Pro690Ala) n.305C>G c.2197C>G (p.Pro733Ala) c.2128+5773C>G (n.2128+5773C>G) n.2405C>G n.2613C>G c.1822C>G (p.Pro608Ala) c.847C>G (p.Pro283Ala) c.1561C>G (p.Pro521Ala) n.2357C>G n.2565C>G | |
1 | g.197427729C>T | CA1312117 | CRB1 | c.2404C>T (p.Pro802Ser) c.1285C>T (p.Pro429Ser) c.547C>T (p.Pro183Ser) c.2068C>T (p.Pro690Ser) n.305C>T c.2197C>T (p.Pro733Ser) c.2128+5773C>T (n.2128+5773C>T) n.2405C>T n.2613C>T c.1822C>T (p.Pro608Ser) c.847C>T (p.Pro283Ser) c.1561C>T (p.Pro521Ser) n.2357C>T n.2565C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427730C>A | CA344037175 | CRB1 | c.2405C>A (p.Pro802Gln) c.1286C>A (p.Pro429Gln) c.548C>A (p.Pro183Gln) c.2069C>A (p.Pro690Gln) n.306C>A c.2198C>A (p.Pro733Gln) c.2128+5774C>A (n.2128+5774C>A) n.2406C>A n.2614C>A c.1823C>A (p.Pro608Gln) c.848C>A (p.Pro283Gln) c.1562C>A (p.Pro521Gln) n.2358C>A n.2566C>A | |
1 | g.197427730C= | CA1218066218 | CRB1 | c.2405C= (p.Pro802=) c.1286C= (p.Pro429=) c.548C= (p.Pro183=) c.2069C= (p.Pro690=) n.306C= c.2198C= (p.Pro733=) c.2128+5774C= (n.2128+5774C=) n.2406C= n.2614C= c.1823C= (p.Pro608=) c.848C= (p.Pro283=) c.1562C= (p.Pro521=) n.2358C= n.2566C= | |
1 | g.197427730C>G | CA344037177 | CRB1 | c.2405C>G (p.Pro802Arg) c.1286C>G (p.Pro429Arg) c.548C>G (p.Pro183Arg) c.2069C>G (p.Pro690Arg) n.306C>G c.2198C>G (p.Pro733Arg) c.2128+5774C>G (n.2128+5774C>G) n.2406C>G n.2614C>G c.1823C>G (p.Pro608Arg) c.848C>G (p.Pro283Arg) c.1562C>G (p.Pro521Arg) n.2358C>G n.2566C>G | |
1 | g.197427730C>T | CA344037179 | CRB1 | c.2405C>T (p.Pro802Leu) c.1286C>T (p.Pro429Leu) c.548C>T (p.Pro183Leu) c.2069C>T (p.Pro690Leu) n.306C>T c.2198C>T (p.Pro733Leu) c.2128+5774C>T (n.2128+5774C>T) n.2406C>T n.2614C>T c.1823C>T (p.Pro608Leu) c.848C>T (p.Pro283Leu) c.1562C>T (p.Pro521Leu) n.2358C>T n.2566C>T | ClinVar dbSNP gnomAD v4 |
1 | g.197427731A= | CA1141784834 | CRB1 | c.2406A= (p.Pro802=) c.1287A= (p.Pro429=) c.549A= (p.Pro183=) c.2070A= (p.Pro690=) n.307A= c.2199A= (p.Pro733=) c.2128+5775A= (n.2128+5775A=) n.2407A= n.2615A= c.1824A= (p.Pro608=) c.849A= (p.Pro283=) c.1563A= (p.Pro521=) n.2359A= n.2567A= | |
1 | g.197427731A>C | CA422808719 | CRB1 | c.2406A>C (p.Pro802=) c.1287A>C (p.Pro429=) c.549A>C (p.Pro183=) c.2070A>C (p.Pro690=) n.307A>C c.2199A>C (p.Pro733=) c.2128+5775A>C (n.2128+5775A>C) n.2407A>C n.2615A>C c.1824A>C (p.Pro608=) c.849A>C (p.Pro283=) c.1563A>C (p.Pro521=) n.2359A>C n.2567A>C | ClinVar dbSNP |
1 | g.197427731A>G | CA422808720 | CRB1 | c.2406A>G (p.Pro802=) c.1287A>G (p.Pro429=) c.549A>G (p.Pro183=) c.2070A>G (p.Pro690=) n.307A>G c.2199A>G (p.Pro733=) c.2128+5775A>G (n.2128+5775A>G) n.2407A>G n.2615A>G c.1824A>G (p.Pro608=) c.849A>G (p.Pro283=) c.1563A>G (p.Pro521=) n.2359A>G n.2567A>G | ClinVar gnomAD v4 |
1 | g.197427731A>T | CA35900825 | CRB1 | c.2406A>T (p.Pro802=) c.1287A>T (p.Pro429=) c.549A>T (p.Pro183=) c.2070A>T (p.Pro690=) n.307A>T c.2199A>T (p.Pro733=) c.2128+5775A>T (n.2128+5775A>T) n.2407A>T n.2615A>T c.1824A>T (p.Pro608=) c.849A>T (p.Pro283=) c.1563A>T (p.Pro521=) n.2359A>T n.2567A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197427732T>A | CA344037184 | CRB1 | c.2407T>A (p.Tyr803Asn) c.1288T>A (p.Tyr430Asn) c.550T>A (p.Tyr184Asn) c.2071T>A (p.Tyr691Asn) n.308T>A c.2200T>A (p.Tyr734Asn) c.2128+5776T>A (n.2128+5776T>A) n.2408T>A n.2616T>A c.1825T>A (p.Tyr609Asn) c.850T>A (p.Tyr284Asn) c.1564T>A (p.Tyr522Asn) n.2360T>A n.2568T>A | dbSNP |
1 | g.197427732T>C | CA344037186 | CRB1 | c.2407T>C (p.Tyr803His) c.1288T>C (p.Tyr430His) c.550T>C (p.Tyr184His) c.2071T>C (p.Tyr691His) n.308T>C c.2200T>C (p.Tyr734His) c.2128+5776T>C (n.2128+5776T>C) n.2408T>C n.2616T>C c.1825T>C (p.Tyr609His) c.850T>C (p.Tyr284His) c.1564T>C (p.Tyr522His) n.2360T>C n.2568T>C | |
1 | g.197427732T>G | CA344037188 | CRB1 | c.2407T>G (p.Tyr803Asp) c.1288T>G (p.Tyr430Asp) c.550T>G (p.Tyr184Asp) c.2071T>G (p.Tyr691Asp) n.308T>G c.2200T>G (p.Tyr734Asp) c.2128+5776T>G (n.2128+5776T>G) n.2408T>G n.2616T>G c.1825T>G (p.Tyr609Asp) c.850T>G (p.Tyr284Asp) c.1564T>G (p.Tyr522Asp) n.2360T>G n.2568T>G | |
1 | g.197427733A= | CA1218066220 | CRB1 | c.2408A= (p.Tyr803=) c.1289A= (p.Tyr430=) c.551A= (p.Tyr184=) c.2072A= (p.Tyr691=) n.309A= c.2201A= (p.Tyr734=) c.2128+5777A= (n.2128+5777A=) n.2409A= n.2617A= c.1826A= (p.Tyr609=) c.851A= (p.Tyr284=) c.1565A= (p.Tyr522=) n.2361A= n.2569A= | |
1 | g.197427733A>C | CA344037194 | CRB1 | c.2408A>C (p.Tyr803Ser) c.1289A>C (p.Tyr430Ser) c.551A>C (p.Tyr184Ser) c.2072A>C (p.Tyr691Ser) n.309A>C c.2201A>C (p.Tyr734Ser) c.2128+5777A>C (n.2128+5777A>C) n.2409A>C n.2617A>C c.1826A>C (p.Tyr609Ser) c.851A>C (p.Tyr284Ser) c.1565A>C (p.Tyr522Ser) n.2361A>C n.2569A>C | |
1 | g.197427733A>G | CA1312118 | CRB1 | c.2408A>G (p.Tyr803Cys) c.1289A>G (p.Tyr430Cys) c.551A>G (p.Tyr184Cys) c.2072A>G (p.Tyr691Cys) n.309A>G c.2201A>G (p.Tyr734Cys) c.2128+5777A>G (n.2128+5777A>G) n.2409A>G n.2617A>G c.1826A>G (p.Tyr609Cys) c.851A>G (p.Tyr284Cys) c.1565A>G (p.Tyr522Cys) n.2361A>G n.2569A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427733A>T | CA344037192 | CRB1 | c.2408A>T (p.Tyr803Phe) c.1289A>T (p.Tyr430Phe) c.551A>T (p.Tyr184Phe) c.2072A>T (p.Tyr691Phe) n.309A>T c.2201A>T (p.Tyr734Phe) c.2128+5777A>T (n.2128+5777A>T) n.2409A>T n.2617A>T c.1826A>T (p.Tyr609Phe) c.851A>T (p.Tyr284Phe) c.1565A>T (p.Tyr522Phe) n.2361A>T n.2569A>T | |
1 | g.197427734T>A | CA344037196 | CRB1 | c.2409T>A (p.Tyr803Ter) c.1290T>A (p.Tyr430Ter) c.552T>A (p.Tyr184Ter) c.2073T>A (p.Tyr691Ter) n.310T>A c.2202T>A (p.Tyr734Ter) c.2128+5778T>A (n.2128+5778T>A) n.2410T>A n.2618T>A c.1827T>A (p.Tyr609Ter) c.852T>A (p.Tyr284Ter) c.1566T>A (p.Tyr522Ter) n.2362T>A n.2570T>A | |
1 | g.197427734T>C | CA422808721 | CRB1 | c.2409T>C (p.Tyr803=) c.1290T>C (p.Tyr430=) c.552T>C (p.Tyr184=) c.2073T>C (p.Tyr691=) n.310T>C c.2202T>C (p.Tyr734=) c.2128+5778T>C (n.2128+5778T>C) n.2410T>C n.2618T>C c.1827T>C (p.Tyr609=) c.852T>C (p.Tyr284=) c.1566T>C (p.Tyr522=) n.2362T>C n.2570T>C | |
1 | g.197427734T>G | CA344037198 | CRB1 | c.2409T>G (p.Tyr803Ter) c.1290T>G (p.Tyr430Ter) c.552T>G (p.Tyr184Ter) c.2073T>G (p.Tyr691Ter) n.310T>G c.2202T>G (p.Tyr734Ter) c.2128+5778T>G (n.2128+5778T>G) n.2410T>G n.2618T>G c.1827T>G (p.Tyr609Ter) c.852T>G (p.Tyr284Ter) c.1566T>G (p.Tyr522Ter) n.2362T>G n.2570T>G | |
1 | g.197427735A>C | CA344037200 | CRB1 | c.2410A>C (p.Lys804Gln) c.1291A>C (p.Lys431Gln) c.553A>C (p.Lys185Gln) c.2074A>C (p.Lys692Gln) n.311A>C c.2203A>C (p.Lys735Gln) c.2128+5779A>C (n.2128+5779A>C) n.2411A>C n.2619A>C c.1828A>C (p.Lys610Gln) c.853A>C (p.Lys285Gln) c.1567A>C (p.Lys523Gln) n.2363A>C n.2571A>C | |
1 | g.197427735A>G | CA344037202 | CRB1 | c.2410A>G (p.Lys804Glu) c.1291A>G (p.Lys431Glu) c.553A>G (p.Lys185Glu) c.2074A>G (p.Lys692Glu) n.311A>G c.2203A>G (p.Lys735Glu) c.2128+5779A>G (n.2128+5779A>G) n.2411A>G n.2619A>G c.1828A>G (p.Lys610Glu) c.853A>G (p.Lys285Glu) c.1567A>G (p.Lys523Glu) n.2363A>G n.2571A>G | |
1 | g.197427735A>T | CA344037203 | CRB1 | c.2410A>T (p.Lys804Ter) c.1291A>T (p.Lys431Ter) c.553A>T (p.Lys185Ter) c.2074A>T (p.Lys692Ter) n.311A>T c.2203A>T (p.Lys735Ter) c.2128+5779A>T (n.2128+5779A>T) n.2411A>T n.2619A>T c.1828A>T (p.Lys610Ter) c.853A>T (p.Lys285Ter) c.1567A>T (p.Lys523Ter) n.2363A>T n.2571A>T | |
1 | g.197427738del | CA2586964522 | CRB1 | c.2413del (p.Ile805LeufsTer10) c.1294del (p.Ile432LeufsTer10) c.556del (p.Ile186LeufsTer10) c.2077del (p.Ile693LeufsTer10) n.314del c.2206del (p.Ile736LeufsTer10) c.2128+5782del (n.2128+5782del) n.2414del n.2622del c.1831del (p.Ile611LeufsTer10) c.856del (p.Ile286LeufsTer10) c.1570del (p.Ile524LeufsTer10) n.2366del n.2574del | |
1 | g.197427736A>C | CA344037206 | CRB1 | c.2411A>C (p.Lys804Thr) c.1292A>C (p.Lys431Thr) c.554A>C (p.Lys185Thr) c.2075A>C (p.Lys692Thr) n.312A>C c.2204A>C (p.Lys735Thr) c.2128+5780A>C (n.2128+5780A>C) n.2412A>C n.2620A>C c.1829A>C (p.Lys610Thr) c.854A>C (p.Lys285Thr) c.1568A>C (p.Lys523Thr) n.2364A>C n.2572A>C | |
1 | g.197427736A>G | CA344037210 | CRB1 | c.2411A>G (p.Lys804Arg) c.1292A>G (p.Lys431Arg) c.554A>G (p.Lys185Arg) c.2075A>G (p.Lys692Arg) n.312A>G c.2204A>G (p.Lys735Arg) c.2128+5780A>G (n.2128+5780A>G) n.2412A>G n.2620A>G c.1829A>G (p.Lys610Arg) c.854A>G (p.Lys285Arg) c.1568A>G (p.Lys523Arg) n.2364A>G n.2572A>G | |
1 | g.197427736A>T | CA344037208 | CRB1 | c.2411A>T (p.Lys804Ile) c.1292A>T (p.Lys431Ile) c.554A>T (p.Lys185Ile) c.2075A>T (p.Lys692Ile) n.312A>T c.2204A>T (p.Lys735Ile) c.2128+5780A>T (n.2128+5780A>T) n.2412A>T n.2620A>T c.1829A>T (p.Lys610Ile) c.854A>T (p.Lys285Ile) c.1568A>T (p.Lys523Ile) n.2364A>T n.2572A>T | |
1 | g.197427737A>C | CA344037213 | CRB1 | c.2412A>C (p.Lys804Asn) c.1293A>C (p.Lys431Asn) c.555A>C (p.Lys185Asn) c.2076A>C (p.Lys692Asn) n.313A>C c.2205A>C (p.Lys735Asn) c.2128+5781A>C (n.2128+5781A>C) n.2413A>C n.2621A>C c.1830A>C (p.Lys610Asn) c.855A>C (p.Lys285Asn) c.1569A>C (p.Lys523Asn) n.2365A>C n.2573A>C | |
1 | g.197427737A>G | CA422808723 | CRB1 | c.2412A>G (p.Lys804=) c.1293A>G (p.Lys431=) c.555A>G (p.Lys185=) c.2076A>G (p.Lys692=) n.313A>G c.2205A>G (p.Lys735=) c.2128+5781A>G (n.2128+5781A>G) n.2413A>G n.2621A>G c.1830A>G (p.Lys610=) c.855A>G (p.Lys285=) c.1569A>G (p.Lys523=) n.2365A>G n.2573A>G | |
1 | g.197427737A>T | CA344037215 | CRB1 | c.2412A>T (p.Lys804Asn) c.1293A>T (p.Lys431Asn) c.555A>T (p.Lys185Asn) c.2076A>T (p.Lys692Asn) n.313A>T c.2205A>T (p.Lys735Asn) c.2128+5781A>T (n.2128+5781A>T) n.2413A>T n.2621A>T c.1830A>T (p.Lys610Asn) c.855A>T (p.Lys285Asn) c.1569A>T (p.Lys523Asn) n.2365A>T n.2573A>T | |
1 | g.197427738A= | CA1218066221 | CRB1 | c.2413A= (p.Ile805=) c.1294A= (p.Ile432=) c.556A= (p.Ile186=) c.2077A= (p.Ile693=) n.314A= c.2206A= (p.Ile736=) c.2128+5782A= (n.2128+5782A=) n.2414A= n.2622A= c.1831A= (p.Ile611=) c.856A= (p.Ile286=) c.1570A= (p.Ile524=) n.2366A= n.2574A= | |
1 | g.197427738A>C | CA344037217 | CRB1 | c.2413A>C (p.Ile805Leu) c.1294A>C (p.Ile432Leu) c.556A>C (p.Ile186Leu) c.2077A>C (p.Ile693Leu) n.314A>C c.2206A>C (p.Ile736Leu) c.2128+5782A>C (n.2128+5782A>C) n.2414A>C n.2622A>C c.1831A>C (p.Ile611Leu) c.856A>C (p.Ile286Leu) c.1570A>C (p.Ile524Leu) n.2366A>C n.2574A>C | gnomAD v4 |
1 | g.197427738A>G | CA1312119 | CRB1 | c.2413A>G (p.Ile805Val) c.1294A>G (p.Ile432Val) c.556A>G (p.Ile186Val) c.2077A>G (p.Ile693Val) n.314A>G c.2206A>G (p.Ile736Val) c.2128+5782A>G (n.2128+5782A>G) n.2414A>G n.2622A>G c.1831A>G (p.Ile611Val) c.856A>G (p.Ile286Val) c.1570A>G (p.Ile524Val) n.2366A>G n.2574A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.197427738A>T | CA344037220 | CRB1 | c.2413A>T (p.Ile805Phe) c.1294A>T (p.Ile432Phe) c.556A>T (p.Ile186Phe) c.2077A>T (p.Ile693Phe) n.314A>T c.2206A>T (p.Ile736Phe) c.2128+5782A>T (n.2128+5782A>T) n.2414A>T n.2622A>T c.1831A>T (p.Ile611Phe) c.856A>T (p.Ile286Phe) c.1570A>T (p.Ile524Phe) n.2366A>T n.2574A>T | |
1 | g.197427739T>A | CA344037223 | CRB1 | c.2414T>A (p.Ile805Asn) c.1295T>A (p.Ile432Asn) c.557T>A (p.Ile186Asn) c.2078T>A (p.Ile693Asn) n.315T>A c.2207T>A (p.Ile736Asn) c.2128+5783T>A (n.2128+5783T>A) n.2415T>A n.2623T>A c.1832T>A (p.Ile611Asn) c.857T>A (p.Ile286Asn) c.1571T>A (p.Ile524Asn) n.2367T>A n.2575T>A | |
1 | g.197427739T>C | CA35900834 | CRB1 | c.2414T>C (p.Ile805Thr) c.1295T>C (p.Ile432Thr) c.557T>C (p.Ile186Thr) c.2078T>C (p.Ile693Thr) n.315T>C c.2207T>C (p.Ile736Thr) c.2128+5783T>C (n.2128+5783T>C) n.2415T>C n.2623T>C c.1832T>C (p.Ile611Thr) c.857T>C (p.Ile286Thr) c.1571T>C (p.Ile524Thr) n.2367T>C n.2575T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427739T>G | CA344037225 | CRB1 | c.2414T>G (p.Ile805Ser) c.1295T>G (p.Ile432Ser) c.557T>G (p.Ile186Ser) c.2078T>G (p.Ile693Ser) n.315T>G c.2207T>G (p.Ile736Ser) c.2128+5783T>G (n.2128+5783T>G) n.2415T>G n.2623T>G c.1832T>G (p.Ile611Ser) c.857T>G (p.Ile286Ser) c.1571T>G (p.Ile524Ser) n.2367T>G n.2575T>G | |
1 | g.197427739T= | CA1141993183 | CRB1 | c.2414T= (p.Ile805=) c.1295T= (p.Ile432=) c.557T= (p.Ile186=) c.2078T= (p.Ile693=) n.315T= c.2207T= (p.Ile736=) c.2128+5783T= (n.2128+5783T=) n.2415T= n.2623T= c.1832T= (p.Ile611=) c.857T= (p.Ile286=) c.1571T= (p.Ile524=) n.2367T= n.2575T= | |
1 | g.197427740T>A | CA422808725 | CRB1 | c.2415T>A (p.Ile805=) c.1296T>A (p.Ile432=) c.558T>A (p.Ile186=) c.2079T>A (p.Ile693=) n.316T>A c.2208T>A (p.Ile736=) c.2128+5784T>A (n.2128+5784T>A) n.2416T>A n.2624T>A c.1833T>A (p.Ile611=) c.858T>A (p.Ile286=) c.1572T>A (p.Ile524=) n.2368T>A n.2576T>A | |
1 | g.197427740T>C | CA422808724 | CRB1 | c.2415T>C (p.Ile805=) c.1296T>C (p.Ile432=) c.558T>C (p.Ile186=) c.2079T>C (p.Ile693=) n.316T>C c.2208T>C (p.Ile736=) c.2128+5784T>C (n.2128+5784T>C) n.2416T>C n.2624T>C c.1833T>C (p.Ile611=) c.858T>C (p.Ile286=) c.1572T>C (p.Ile524=) n.2368T>C n.2576T>C | |
1 | g.197427740T>G | CA344037228 | CRB1 | c.2415T>G (p.Ile805Met) c.1296T>G (p.Ile432Met) c.558T>G (p.Ile186Met) c.2079T>G (p.Ile693Met) n.316T>G c.2208T>G (p.Ile736Met) c.2128+5784T>G (n.2128+5784T>G) n.2416T>G n.2624T>G c.1833T>G (p.Ile611Met) c.858T>G (p.Ile286Met) c.1572T>G (p.Ile524Met) n.2368T>G n.2576T>G | |
1 | g.197427741G>A | CA344037231 | CRB1 | c.2416G>A (p.Glu806Lys) c.1297G>A (p.Glu433Lys) c.559G>A (p.Glu187Lys) c.2080G>A (p.Glu694Lys) n.317G>A c.2209G>A (p.Glu737Lys) c.2128+5785G>A (n.2128+5785G>A) n.2417G>A n.2625G>A c.1834G>A (p.Glu612Lys) c.859G>A (p.Glu287Lys) c.1573G>A (p.Glu525Lys) n.2369G>A n.2577G>A | COSMIC COSMIC |
1 | g.197427741G>C | CA1312120 | CRB1 | c.2416G>C (p.Glu806Gln) c.1297G>C (p.Glu433Gln) c.559G>C (p.Glu187Gln) c.2080G>C (p.Glu694Gln) n.317G>C c.2209G>C (p.Glu737Gln) c.2128+5785G>C (n.2128+5785G>C) n.2417G>C n.2625G>C c.1834G>C (p.Glu612Gln) c.859G>C (p.Glu287Gln) c.1573G>C (p.Glu525Gln) n.2369G>C n.2577G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427741G= | CA1218066228 | CRB1 | c.2416G= (p.Glu806=) c.1297G= (p.Glu433=) c.559G= (p.Glu187=) c.2080G= (p.Glu694=) n.317G= c.2209G= (p.Glu737=) c.2128+5785G= (n.2128+5785G=) n.2417G= n.2625G= c.1834G= (p.Glu612=) c.859G= (p.Glu287=) c.1573G= (p.Glu525=) n.2369G= n.2577G= | |
1 | g.197427741G>T | CA344037234 | CRB1 | c.2416G>T (p.Glu806Ter) c.1297G>T (p.Glu433Ter) c.559G>T (p.Glu187Ter) c.2080G>T (p.Glu694Ter) n.317G>T c.2209G>T (p.Glu737Ter) c.2128+5785G>T (n.2128+5785G>T) n.2417G>T n.2625G>T c.1834G>T (p.Glu612Ter) c.859G>T (p.Glu287Ter) c.1573G>T (p.Glu525Ter) n.2369G>T n.2577G>T | ClinVar dbSNP |
1 | g.197427742A>C | CA344037236 | CRB1 | c.2417A>C (p.Glu806Ala) c.1298A>C (p.Glu433Ala) c.560A>C (p.Glu187Ala) c.2081A>C (p.Glu694Ala) n.318A>C c.2210A>C (p.Glu737Ala) c.2128+5786A>C (n.2128+5786A>C) n.2418A>C n.2626A>C c.1835A>C (p.Glu612Ala) c.860A>C (p.Glu287Ala) c.1574A>C (p.Glu525Ala) n.2370A>C n.2578A>C | |
1 | g.197427742A>G | CA344037241 | CRB1 | c.2417A>G (p.Glu806Gly) c.1298A>G (p.Glu433Gly) c.560A>G (p.Glu187Gly) c.2081A>G (p.Glu694Gly) n.318A>G c.2210A>G (p.Glu737Gly) c.2128+5786A>G (n.2128+5786A>G) n.2418A>G n.2626A>G c.1835A>G (p.Glu612Gly) c.860A>G (p.Glu287Gly) c.1574A>G (p.Glu525Gly) n.2370A>G n.2578A>G | |
1 | g.197427742A>T | CA344037239 | CRB1 | c.2417A>T (p.Glu806Val) c.1298A>T (p.Glu433Val) c.560A>T (p.Glu187Val) c.2081A>T (p.Glu694Val) n.318A>T c.2210A>T (p.Glu737Val) c.2128+5786A>T (n.2128+5786A>T) n.2418A>T n.2626A>T c.1835A>T (p.Glu612Val) c.860A>T (p.Glu287Val) c.1574A>T (p.Glu525Val) n.2370A>T n.2578A>T | |
1 | g.197427743A= | CA1218066230 | CRB1 | c.2418A= (p.Glu806=) c.1299A= (p.Glu433=) c.561A= (p.Glu187=) c.2082A= (p.Glu694=) n.319A= c.2211A= (p.Glu737=) c.2128+5787A= (n.2128+5787A=) n.2419A= n.2627A= c.1836A= (p.Glu612=) c.861A= (p.Glu287=) c.1575A= (p.Glu525=) n.2371A= n.2579A= | |
1 | g.197427743A>C | CA344037243 | CRB1 | c.2418A>C (p.Glu806Asp) c.1299A>C (p.Glu433Asp) c.561A>C (p.Glu187Asp) c.2082A>C (p.Glu694Asp) n.319A>C c.2211A>C (p.Glu737Asp) c.2128+5787A>C (n.2128+5787A>C) n.2419A>C n.2627A>C c.1836A>C (p.Glu612Asp) c.861A>C (p.Glu287Asp) c.1575A>C (p.Glu525Asp) n.2371A>C n.2579A>C | dbSNP gnomAD v2 |
1 | g.197427743A>G | CA422808728 | CRB1 | c.2418A>G (p.Glu806=) c.1299A>G (p.Glu433=) c.561A>G (p.Glu187=) c.2082A>G (p.Glu694=) n.319A>G c.2211A>G (p.Glu737=) c.2128+5787A>G (n.2128+5787A>G) n.2419A>G n.2627A>G c.1836A>G (p.Glu612=) c.861A>G (p.Glu287=) c.1575A>G (p.Glu525=) n.2371A>G n.2579A>G | |
1 | g.197427743A>T | CA344037245 | CRB1 | c.2418A>T (p.Glu806Asp) c.1299A>T (p.Glu433Asp) c.561A>T (p.Glu187Asp) c.2082A>T (p.Glu694Asp) n.319A>T c.2211A>T (p.Glu737Asp) c.2128+5787A>T (n.2128+5787A>T) n.2419A>T n.2627A>T c.1836A>T (p.Glu612Asp) c.861A>T (p.Glu287Asp) c.1575A>T (p.Glu525Asp) n.2371A>T n.2579A>T | |
1 | g.197427744C>A | CA344037247 | CRB1 | c.2419C>A (p.Leu807Met) c.1300C>A (p.Leu434Met) c.562C>A (p.Leu188Met) c.2083C>A (p.Leu695Met) n.320C>A c.2212C>A (p.Leu738Met) c.2128+5788C>A (n.2128+5788C>A) n.2420C>A n.2628C>A c.1837C>A (p.Leu613Met) c.862C>A (p.Leu288Met) c.1576C>A (p.Leu526Met) n.2372C>A n.2580C>A | |
1 | g.197427744C= | CA1143772734 | CRB1 | c.2419C= (p.Leu807=) c.1300C= (p.Leu434=) c.562C= (p.Leu188=) c.2083C= (p.Leu695=) n.320C= c.2212C= (p.Leu738=) c.2128+5788C= (n.2128+5788C=) n.2420C= n.2628C= c.1837C= (p.Leu613=) c.862C= (p.Leu288=) c.1576C= (p.Leu526=) n.2372C= n.2580C= | |
1 | g.197427744C>G | CA344037249 | CRB1 | c.2419C>G (p.Leu807Val) c.1300C>G (p.Leu434Val) c.562C>G (p.Leu188Val) c.2083C>G (p.Leu695Val) n.320C>G c.2212C>G (p.Leu738Val) c.2128+5788C>G (n.2128+5788C>G) n.2420C>G n.2628C>G c.1837C>G (p.Leu613Val) c.862C>G (p.Leu288Val) c.1576C>G (p.Leu526Val) n.2372C>G n.2580C>G | |
1 | g.197427744C>T | CA1312121 | CRB1 | c.2419C>T (p.Leu807=) c.1300C>T (p.Leu434=) c.562C>T (p.Leu188=) c.2083C>T (p.Leu695=) n.320C>T c.2212C>T (p.Leu738=) c.2128+5788C>T (n.2128+5788C>T) n.2420C>T n.2628C>T c.1837C>T (p.Leu613=) c.862C>T (p.Leu288=) c.1576C>T (p.Leu526=) n.2372C>T n.2580C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427745T>A | CA344037252 | CRB1 | c.2420T>A (p.Leu807Gln) c.1301T>A (p.Leu434Gln) c.563T>A (p.Leu188Gln) c.2084T>A (p.Leu695Gln) n.321T>A c.2213T>A (p.Leu738Gln) c.2128+5789T>A (n.2128+5789T>A) n.2421T>A n.2629T>A c.1838T>A (p.Leu613Gln) c.863T>A (p.Leu288Gln) c.1577T>A (p.Leu526Gln) n.2373T>A n.2581T>A | |
1 | g.197427745T>C | CA344037254 | CRB1 | c.2420T>C (p.Leu807Pro) c.1301T>C (p.Leu434Pro) c.563T>C (p.Leu188Pro) c.2084T>C (p.Leu695Pro) n.321T>C c.2213T>C (p.Leu738Pro) c.2128+5789T>C (n.2128+5789T>C) n.2421T>C n.2629T>C c.1838T>C (p.Leu613Pro) c.863T>C (p.Leu288Pro) c.1577T>C (p.Leu526Pro) n.2373T>C n.2581T>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427745T>G | CA344037255 | CRB1 | c.2420T>G (p.Leu807Arg) c.1301T>G (p.Leu434Arg) c.563T>G (p.Leu188Arg) c.2084T>G (p.Leu695Arg) n.321T>G c.2213T>G (p.Leu738Arg) c.2128+5789T>G (n.2128+5789T>G) n.2421T>G n.2629T>G c.1838T>G (p.Leu613Arg) c.863T>G (p.Leu288Arg) c.1577T>G (p.Leu526Arg) n.2373T>G n.2581T>G | ClinVar |
1 | g.197427745T= | CA1218066235 | CRB1 | c.2420T= (p.Leu807=) c.1301T= (p.Leu434=) c.563T= (p.Leu188=) c.2084T= (p.Leu695=) n.321T= c.2213T= (p.Leu738=) c.2128+5789T= (n.2128+5789T=) n.2421T= n.2629T= c.1838T= (p.Leu613=) c.863T= (p.Leu288=) c.1577T= (p.Leu526=) n.2373T= n.2581T= | |
1 | g.197427745_197427746insACTAATTTGGGAGAGTTTG | CA2571443668 | CRB1 | c.2420_2421insACTAATTTGGGAGAGTTTG (p.Tyr808LeufsTer36) c.1301_1302insACTAATTTGGGAGAGTTTG (p.Tyr435LeufsTer36) c.563_564insACTAATTTGGGAGAGTTTG (p.Tyr189LeufsTer36) c.2084_2085insACTAATTTGGGAGAGTTTG (p.Tyr696LeufsTer36) n.321_322insACTAATTTGGGAGAGTTTG c.2213_2214insACTAATTTGGGAGAGTTTG (p.Tyr739LeufsTer36) c.2128+5789_2128+5790insACTAATTTGGGAGAGTTTG (n.2128+5789_2128+5790insACTAATTTGGGAGAGTTTG) n.2421_2422insACTAATTTGGGAGAGTTTG n.2629_2630insACTAATTTGGGAGAGTTTG c.1838_1839insACTAATTTGGGAGAGTTTG (p.Tyr614LeufsTer36) c.863_864insACTAATTTGGGAGAGTTTG (p.Tyr289LeufsTer36) c.1577_1578insACTAATTTGGGAGAGTTTG (p.Tyr527LeufsTer36) n.2373_2374insACTAATTTGGGAGAGTTTG n.2581_2582insACTAATTTGGGAGAGTTTG | |
1 | g.197427746G>A | CA422808729 | CRB1 | c.2421G>A (p.Leu807=) c.1302G>A (p.Leu434=) c.564G>A (p.Leu188=) c.2085G>A (p.Leu695=) n.322G>A c.2214G>A (p.Leu738=) c.2128+5790G>A (n.2128+5790G>A) n.2422G>A n.2630G>A c.1839G>A (p.Leu613=) c.864G>A (p.Leu288=) c.1578G>A (p.Leu526=) n.2374G>A n.2582G>A | |
1 | g.197427746G>C | CA422808731 | CRB1 | c.2421G>C (p.Leu807=) c.1302G>C (p.Leu434=) c.564G>C (p.Leu188=) c.2085G>C (p.Leu695=) n.322G>C c.2214G>C (p.Leu738=) c.2128+5790G>C (n.2128+5790G>C) n.2422G>C n.2630G>C c.1839G>C (p.Leu613=) c.864G>C (p.Leu288=) c.1578G>C (p.Leu526=) n.2374G>C n.2582G>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427746G>T | CA422808732 | CRB1 | c.2421G>T (p.Leu807=) c.1302G>T (p.Leu434=) c.564G>T (p.Leu188=) c.2085G>T (p.Leu695=) n.322G>T c.2214G>T (p.Leu738=) c.2128+5790G>T (n.2128+5790G>T) n.2422G>T n.2630G>T c.1839G>T (p.Leu613=) c.864G>T (p.Leu288=) c.1578G>T (p.Leu526=) n.2374G>T n.2582G>T | |
1 | g.197427747T>A | CA344037258 | CRB1 | c.2422T>A (p.Tyr808Asn) c.1303T>A (p.Tyr435Asn) c.565T>A (p.Tyr189Asn) c.2086T>A (p.Tyr696Asn) n.323T>A c.2215T>A (p.Tyr739Asn) c.2128+5791T>A (n.2128+5791T>A) n.2423T>A n.2631T>A c.1840T>A (p.Tyr614Asn) c.865T>A (p.Tyr289Asn) c.1579T>A (p.Tyr527Asn) n.2375T>A n.2583T>A | |
1 | g.197427747T>C | CA344037259 | CRB1 | c.2422T>C (p.Tyr808His) c.1303T>C (p.Tyr435His) c.565T>C (p.Tyr189His) c.2086T>C (p.Tyr696His) n.323T>C c.2215T>C (p.Tyr739His) c.2128+5791T>C (n.2128+5791T>C) n.2423T>C n.2631T>C c.1840T>C (p.Tyr614His) c.865T>C (p.Tyr289His) c.1579T>C (p.Tyr527His) n.2375T>C n.2583T>C | gnomAD v4 |
1 | g.197427747T>G | CA344037261 | CRB1 | c.2422T>G (p.Tyr808Asp) c.1303T>G (p.Tyr435Asp) c.565T>G (p.Tyr189Asp) c.2086T>G (p.Tyr696Asp) n.323T>G c.2215T>G (p.Tyr739Asp) c.2128+5791T>G (n.2128+5791T>G) n.2423T>G n.2631T>G c.1840T>G (p.Tyr614Asp) c.865T>G (p.Tyr289Asp) c.1579T>G (p.Tyr527Asp) n.2375T>G n.2583T>G | gnomAD v4 |
1 | g.197427748A= | CA1218066242 | CRB1 | c.2423A= (p.Tyr808=) c.1304A= (p.Tyr435=) c.566A= (p.Tyr189=) c.2087A= (p.Tyr696=) n.324A= c.2216A= (p.Tyr739=) c.2128+5792A= (n.2128+5792A=) n.2424A= n.2632A= c.1841A= (p.Tyr614=) c.866A= (p.Tyr289=) c.1580A= (p.Tyr527=) n.2376A= n.2584A= | |
1 | g.197427748A>C | CA344037267 | CRB1 | c.2423A>C (p.Tyr808Ser) c.1304A>C (p.Tyr435Ser) c.566A>C (p.Tyr189Ser) c.2087A>C (p.Tyr696Ser) n.324A>C c.2216A>C (p.Tyr739Ser) c.2128+5792A>C (n.2128+5792A>C) n.2424A>C n.2632A>C c.1841A>C (p.Tyr614Ser) c.866A>C (p.Tyr289Ser) c.1580A>C (p.Tyr527Ser) n.2376A>C n.2584A>C | |
1 | g.197427748A>G | CA35900848 | CRB1 | c.2423A>G (p.Tyr808Cys) c.1304A>G (p.Tyr435Cys) c.566A>G (p.Tyr189Cys) c.2087A>G (p.Tyr696Cys) n.324A>G c.2216A>G (p.Tyr739Cys) c.2128+5792A>G (n.2128+5792A>G) n.2424A>G n.2632A>G c.1841A>G (p.Tyr614Cys) c.866A>G (p.Tyr289Cys) c.1580A>G (p.Tyr527Cys) n.2376A>G n.2584A>G | ClinVar dbSNP gnomAD v4 |
1 | g.197427748A>T | CA344037264 | CRB1 | c.2423A>T (p.Tyr808Phe) c.1304A>T (p.Tyr435Phe) c.566A>T (p.Tyr189Phe) c.2087A>T (p.Tyr696Phe) n.324A>T c.2216A>T (p.Tyr739Phe) c.2128+5792A>T (n.2128+5792A>T) n.2424A>T n.2632A>T c.1841A>T (p.Tyr614Phe) c.866A>T (p.Tyr289Phe) c.1580A>T (p.Tyr527Phe) n.2376A>T n.2584A>T | dbSNP gnomAD v4 |
1 | g.197427748_197427749insCT | CA2649670118 | CRB1 | c.2423_2424insCT (p.Gln809PhefsTer7) c.1304_1305insCT (p.Gln436PhefsTer7) c.566_567insCT (p.Gln190PhefsTer7) c.2087_2088insCT (p.Gln697PhefsTer7) n.324_325insCT c.2216_2217insCT (p.Gln740PhefsTer7) c.2128+5792_2128+5793insCT (n.2128+5792_2128+5793insCT) n.2424_2425insCT n.2632_2633insCT c.1841_1842insCT (p.Gln615PhefsTer7) c.866_867insCT (p.Gln290PhefsTer7) c.1580_1581insCT (p.Gln528PhefsTer7) n.2376_2377insCT n.2584_2585insCT | gnomAD v4 |
1 | g.197427749T>A | CA344037270 | CRB1 | c.2424T>A (p.Tyr808Ter) c.1305T>A (p.Tyr435Ter) c.567T>A (p.Tyr189Ter) c.2088T>A (p.Tyr696Ter) n.325T>A c.2217T>A (p.Tyr739Ter) c.2128+5793T>A (n.2128+5793T>A) n.2425T>A n.2633T>A c.1842T>A (p.Tyr614Ter) c.867T>A (p.Tyr289Ter) c.1581T>A (p.Tyr527Ter) n.2377T>A n.2585T>A | |
1 | g.197427749T>C | CA422808734 | CRB1 | c.2424T>C (p.Tyr808=) c.1305T>C (p.Tyr435=) c.567T>C (p.Tyr189=) c.2088T>C (p.Tyr696=) n.325T>C c.2217T>C (p.Tyr739=) c.2128+5793T>C (n.2128+5793T>C) n.2425T>C n.2633T>C c.1842T>C (p.Tyr614=) c.867T>C (p.Tyr289=) c.1581T>C (p.Tyr527=) n.2377T>C n.2585T>C | |
1 | g.197427749T>G | CA344037272 | CRB1 | c.2424T>G (p.Tyr808Ter) c.1305T>G (p.Tyr435Ter) c.567T>G (p.Tyr189Ter) c.2088T>G (p.Tyr696Ter) n.325T>G c.2217T>G (p.Tyr739Ter) c.2128+5793T>G (n.2128+5793T>G) n.2425T>G n.2633T>G c.1842T>G (p.Tyr614Ter) c.867T>G (p.Tyr289Ter) c.1581T>G (p.Tyr527Ter) n.2377T>G n.2585T>G | |
1 | g.197427750C>A | CA344037275 | CRB1 | c.2425C>A (p.Gln809Lys) c.1306C>A (p.Gln436Lys) c.568C>A (p.Gln190Lys) c.2089C>A (p.Gln697Lys) n.326C>A c.2218C>A (p.Gln740Lys) c.2128+5794C>A (n.2128+5794C>A) n.2426C>A n.2634C>A c.1843C>A (p.Gln615Lys) c.868C>A (p.Gln290Lys) c.1582C>A (p.Gln528Lys) n.2378C>A n.2586C>A | |
1 | g.197427750C= | CA1218066245 | CRB1 | c.2425C= (p.Gln809=) c.1306C= (p.Gln436=) c.568C= (p.Gln190=) c.2089C= (p.Gln697=) n.326C= c.2218C= (p.Gln740=) c.2128+5794C= (n.2128+5794C=) n.2426C= n.2634C= c.1843C= (p.Gln615=) c.868C= (p.Gln290=) c.1582C= (p.Gln528=) n.2378C= n.2586C= | |
1 | g.197427750C>G | CA344037277 | CRB1 | c.2425C>G (p.Gln809Glu) c.1306C>G (p.Gln436Glu) c.568C>G (p.Gln190Glu) c.2089C>G (p.Gln697Glu) n.326C>G c.2218C>G (p.Gln740Glu) c.2128+5794C>G (n.2128+5794C>G) n.2426C>G n.2634C>G c.1843C>G (p.Gln615Glu) c.868C>G (p.Gln290Glu) c.1582C>G (p.Gln528Glu) n.2378C>G n.2586C>G | |
1 | g.197427750C>T | CA344037279 | CRB1 | c.2425C>T (p.Gln809Ter) c.1306C>T (p.Gln436Ter) c.568C>T (p.Gln190Ter) c.2089C>T (p.Gln697Ter) n.326C>T c.2218C>T (p.Gln740Ter) c.2128+5794C>T (n.2128+5794C>T) n.2426C>T n.2634C>T c.1843C>T (p.Gln615Ter) c.868C>T (p.Gln290Ter) c.1582C>T (p.Gln528Ter) n.2378C>T n.2586C>T | ClinVar dbSNP |
1 | g.197427750_197427751del | CA2649670119 | CRB1 | c.2425_2426del (p.Gln809ValfsTer28) c.1306_1307del (p.Gln436ValfsTer28) c.568_569del (p.Gln190ValfsTer28) c.2089_2090del (p.Gln697ValfsTer28) n.326_327del c.2218_2219del (p.Gln740ValfsTer28) c.2128+5794_2128+5795del (n.2128+5794_2128+5795del) n.2426_2427del n.2634_2635del c.1843_1844del (p.Gln615ValfsTer28) c.868_869del (p.Gln290ValfsTer28) c.1582_1583del (p.Gln528ValfsTer28) n.2378_2379del n.2586_2587del | gnomAD v4 |
1 | g.197427751A= | CA1218066247 | CRB1 | c.2426A= (p.Gln809=) c.1307A= (p.Gln436=) c.569A= (p.Gln190=) c.2090A= (p.Gln697=) n.327A= c.2219A= (p.Gln740=) c.2128+5795A= (n.2128+5795A=) n.2427A= n.2635A= c.1844A= (p.Gln615=) c.869A= (p.Gln290=) c.1583A= (p.Gln528=) n.2379A= n.2587A= | |
1 | g.197427751A>C | CA344037282 | CRB1 | c.2426A>C (p.Gln809Pro) c.1307A>C (p.Gln436Pro) c.569A>C (p.Gln190Pro) c.2090A>C (p.Gln697Pro) n.327A>C c.2219A>C (p.Gln740Pro) c.2128+5795A>C (n.2128+5795A>C) n.2427A>C n.2635A>C c.1844A>C (p.Gln615Pro) c.869A>C (p.Gln290Pro) c.1583A>C (p.Gln528Pro) n.2379A>C n.2587A>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427751A>G | CA344037284 | CRB1 | c.2426A>G (p.Gln809Arg) c.1307A>G (p.Gln436Arg) c.569A>G (p.Gln190Arg) c.2090A>G (p.Gln697Arg) n.327A>G c.2219A>G (p.Gln740Arg) c.2128+5795A>G (n.2128+5795A>G) n.2427A>G n.2635A>G c.1844A>G (p.Gln615Arg) c.869A>G (p.Gln290Arg) c.1583A>G (p.Gln528Arg) n.2379A>G n.2587A>G | ClinVar gnomAD v4 |
1 | g.197427751A>T | CA344037286 | CRB1 | c.2426A>T (p.Gln809Leu) c.1307A>T (p.Gln436Leu) c.569A>T (p.Gln190Leu) c.2090A>T (p.Gln697Leu) n.327A>T c.2219A>T (p.Gln740Leu) c.2128+5795A>T (n.2128+5795A>T) n.2427A>T n.2635A>T c.1844A>T (p.Gln615Leu) c.869A>T (p.Gln290Leu) c.1583A>T (p.Gln528Leu) n.2379A>T n.2587A>T | |
1 | g.197427752G>A | CA422808735 | CRB1 | c.2427G>A (p.Gln809=) c.1308G>A (p.Gln436=) c.570G>A (p.Gln190=) c.2091G>A (p.Gln697=) n.328G>A c.2220G>A (p.Gln740=) c.2128+5796G>A (n.2128+5796G>A) n.2428G>A n.2636G>A c.1845G>A (p.Gln615=) c.870G>A (p.Gln290=) c.1584G>A (p.Gln528=) n.2380G>A n.2588G>A | dbSNP |
1 | g.197427752G>C | CA344037289 | CRB1 | c.2427G>C (p.Gln809His) c.1308G>C (p.Gln436His) c.570G>C (p.Gln190His) c.2091G>C (p.Gln697His) n.328G>C c.2220G>C (p.Gln740His) c.2128+5796G>C (n.2128+5796G>C) n.2428G>C n.2636G>C c.1845G>C (p.Gln615His) c.870G>C (p.Gln290His) c.1584G>C (p.Gln528His) n.2380G>C n.2588G>C | |
1 | g.197427752G= | CA1218066249 | CRB1 | c.2427G= (p.Gln809=) c.1308G= (p.Gln436=) c.570G= (p.Gln190=) c.2091G= (p.Gln697=) n.328G= c.2220G= (p.Gln740=) c.2128+5796G= (n.2128+5796G=) n.2428G= n.2636G= c.1845G= (p.Gln615=) c.870G= (p.Gln290=) c.1584G= (p.Gln528=) n.2380G= n.2588G= | |
1 | g.197427752G>T | CA344037291 | CRB1 | c.2427G>T (p.Gln809His) c.1308G>T (p.Gln436His) c.570G>T (p.Gln190His) c.2091G>T (p.Gln697His) n.328G>T c.2220G>T (p.Gln740His) c.2128+5796G>T (n.2128+5796G>T) n.2428G>T n.2636G>T c.1845G>T (p.Gln615His) c.870G>T (p.Gln290His) c.1584G>T (p.Gln528His) n.2380G>T n.2588G>T | dbSNP gnomAD v2 |
1 | g.197427753T>A | CA344037293 | CRB1 | c.2428T>A (p.Ser810Thr) c.1309T>A (p.Ser437Thr) c.571T>A (p.Ser191Thr) c.2092T>A (p.Ser698Thr) n.329T>A c.2221T>A (p.Ser741Thr) c.2128+5797T>A (n.2128+5797T>A) n.2429T>A n.2637T>A c.1846T>A (p.Ser616Thr) c.871T>A (p.Ser291Thr) c.1585T>A (p.Ser529Thr) n.2381T>A n.2589T>A | |
1 | g.197427753T>C | CA344037296 | CRB1 | c.2428T>C (p.Ser810Pro) c.1309T>C (p.Ser437Pro) c.571T>C (p.Ser191Pro) c.2092T>C (p.Ser698Pro) n.329T>C c.2221T>C (p.Ser741Pro) c.2128+5797T>C (n.2128+5797T>C) n.2429T>C n.2637T>C c.1846T>C (p.Ser616Pro) c.871T>C (p.Ser291Pro) c.1585T>C (p.Ser529Pro) n.2381T>C n.2589T>C | |
1 | g.197427753T>G | CA344037298 | CRB1 | c.2428T>G (p.Ser810Ala) c.1309T>G (p.Ser437Ala) c.571T>G (p.Ser191Ala) c.2092T>G (p.Ser698Ala) n.329T>G c.2221T>G (p.Ser741Ala) c.2128+5797T>G (n.2128+5797T>G) n.2429T>G n.2637T>G c.1846T>G (p.Ser616Ala) c.871T>G (p.Ser291Ala) c.1585T>G (p.Ser529Ala) n.2381T>G n.2589T>G | |
1 | g.197427754C>A | CA344037307 | CRB1 | c.2429C>A (p.Ser810Tyr) c.1310C>A (p.Ser437Tyr) c.572C>A (p.Ser191Tyr) c.2093C>A (p.Ser698Tyr) n.330C>A c.2222C>A (p.Ser741Tyr) c.2128+5798C>A (n.2128+5798C>A) n.2430C>A n.2638C>A c.1847C>A (p.Ser616Tyr) c.872C>A (p.Ser291Tyr) c.1586C>A (p.Ser529Tyr) n.2382C>A n.2590C>A | |
1 | g.197427754C>G | CA344037310 | CRB1 | c.2429C>G (p.Ser810Cys) c.1310C>G (p.Ser437Cys) c.572C>G (p.Ser191Cys) c.2093C>G (p.Ser698Cys) n.330C>G c.2222C>G (p.Ser741Cys) c.2128+5798C>G (n.2128+5798C>G) n.2430C>G n.2638C>G c.1847C>G (p.Ser616Cys) c.872C>G (p.Ser291Cys) c.1586C>G (p.Ser529Cys) n.2382C>G n.2590C>G | gnomAD v4 |
1 | g.197427754C>T | CA344037305 | CRB1 | c.2429C>T (p.Ser810Phe) c.1310C>T (p.Ser437Phe) c.572C>T (p.Ser191Phe) c.2093C>T (p.Ser698Phe) n.330C>T c.2222C>T (p.Ser741Phe) c.2128+5798C>T (n.2128+5798C>T) n.2430C>T n.2638C>T c.1847C>T (p.Ser616Phe) c.872C>T (p.Ser291Phe) c.1586C>T (p.Ser529Phe) n.2382C>T n.2590C>T | gnomAD v4 |
1 | g.197427755T>A | CA422808737 | CRB1 | c.2430T>A (p.Ser810=) c.1311T>A (p.Ser437=) c.573T>A (p.Ser191=) c.2094T>A (p.Ser698=) n.331T>A c.2223T>A (p.Ser741=) c.2128+5799T>A (n.2128+5799T>A) n.2431T>A n.2639T>A c.1848T>A (p.Ser616=) c.873T>A (p.Ser291=) c.1587T>A (p.Ser529=) n.2383T>A n.2591T>A | |
1 | g.197427755T>C | CA422808738 | CRB1 | c.2430T>C (p.Ser810=) c.1311T>C (p.Ser437=) c.573T>C (p.Ser191=) c.2094T>C (p.Ser698=) n.331T>C c.2223T>C (p.Ser741=) c.2128+5799T>C (n.2128+5799T>C) n.2431T>C n.2639T>C c.1848T>C (p.Ser616=) c.873T>C (p.Ser291=) c.1587T>C (p.Ser529=) n.2383T>C n.2591T>C | |
1 | g.197427755T>G | CA422808739 | CRB1 | c.2430T>G (p.Ser810=) c.1311T>G (p.Ser437=) c.573T>G (p.Ser191=) c.2094T>G (p.Ser698=) n.331T>G c.2223T>G (p.Ser741=) c.2128+5799T>G (n.2128+5799T>G) n.2431T>G n.2639T>G c.1848T>G (p.Ser616=) c.873T>G (p.Ser291=) c.1587T>G (p.Ser529=) n.2383T>G n.2591T>G | |
1 | g.197427756T>A | CA344037315 | CRB1 | c.2431T>A (p.Ser811Thr) c.1312T>A (p.Ser438Thr) c.574T>A (p.Ser192Thr) c.2095T>A (p.Ser699Thr) n.332T>A c.2224T>A (p.Ser742Thr) c.2128+5800T>A (n.2128+5800T>A) n.2432T>A n.2640T>A c.1849T>A (p.Ser617Thr) c.874T>A (p.Ser292Thr) c.1588T>A (p.Ser530Thr) n.2384T>A n.2592T>A | |
1 | g.197427756T>C | CA344037313 | CRB1 | c.2431T>C (p.Ser811Pro) c.1312T>C (p.Ser438Pro) c.574T>C (p.Ser192Pro) c.2095T>C (p.Ser699Pro) n.332T>C c.2224T>C (p.Ser742Pro) c.2128+5800T>C (n.2128+5800T>C) n.2432T>C n.2640T>C c.1849T>C (p.Ser617Pro) c.874T>C (p.Ser292Pro) c.1588T>C (p.Ser530Pro) n.2384T>C n.2592T>C | gnomAD v4 |
1 | g.197427756T>G | CA344037318 | CRB1 | c.2431T>G (p.Ser811Ala) c.1312T>G (p.Ser438Ala) c.574T>G (p.Ser192Ala) c.2095T>G (p.Ser699Ala) n.332T>G c.2224T>G (p.Ser742Ala) c.2128+5800T>G (n.2128+5800T>G) n.2432T>G n.2640T>G c.1849T>G (p.Ser617Ala) c.874T>G (p.Ser292Ala) c.1588T>G (p.Ser530Ala) n.2384T>G n.2592T>G | |
1 | g.197427757C>A | CA344037320 | CRB1 | c.2432C>A (p.Ser811Ter) c.1313C>A (p.Ser438Ter) c.575C>A (p.Ser192Ter) c.2096C>A (p.Ser699Ter) n.333C>A c.2225C>A (p.Ser742Ter) c.2128+5801C>A (n.2128+5801C>A) n.2433C>A n.2641C>A c.1850C>A (p.Ser617Ter) c.875C>A (p.Ser292Ter) c.1589C>A (p.Ser530Ter) n.2385C>A n.2593C>A | |
1 | g.197427757C>G | CA344037325 | CRB1 | c.2432C>G (p.Ser811Ter) c.1313C>G (p.Ser438Ter) c.575C>G (p.Ser192Ter) c.2096C>G (p.Ser699Ter) n.333C>G c.2225C>G (p.Ser742Ter) c.2128+5801C>G (n.2128+5801C>G) n.2433C>G n.2641C>G c.1850C>G (p.Ser617Ter) c.875C>G (p.Ser292Ter) c.1589C>G (p.Ser530Ter) n.2385C>G n.2593C>G | |
1 | g.197427757C>T | CA344037322 | CRB1 | c.2432C>T (p.Ser811Leu) c.1313C>T (p.Ser438Leu) c.575C>T (p.Ser192Leu) c.2096C>T (p.Ser699Leu) n.333C>T c.2225C>T (p.Ser742Leu) c.2128+5801C>T (n.2128+5801C>T) n.2433C>T n.2641C>T c.1850C>T (p.Ser617Leu) c.875C>T (p.Ser292Leu) c.1589C>T (p.Ser530Leu) n.2385C>T n.2593C>T | |
1 | g.197427758A>C | CA422808740 | CRB1 | c.2433A>C (p.Ser811=) c.1314A>C (p.Ser438=) c.576A>C (p.Ser192=) c.2097A>C (p.Ser699=) n.334A>C c.2226A>C (p.Ser742=) c.2128+5802A>C (n.2128+5802A>C) n.2434A>C n.2642A>C c.1851A>C (p.Ser617=) c.876A>C (p.Ser292=) c.1590A>C (p.Ser530=) n.2386A>C n.2594A>C | |
1 | g.197427758A>G | CA422808741 | CRB1 | c.2433A>G (p.Ser811=) c.1314A>G (p.Ser438=) c.576A>G (p.Ser192=) c.2097A>G (p.Ser699=) n.334A>G c.2226A>G (p.Ser742=) c.2128+5802A>G (n.2128+5802A>G) n.2434A>G n.2642A>G c.1851A>G (p.Ser617=) c.876A>G (p.Ser292=) c.1590A>G (p.Ser530=) n.2386A>G n.2594A>G | ClinVar dbSNP |
1 | g.197427758A>T | CA422808742 | CRB1 | c.2433A>T (p.Ser811=) c.1314A>T (p.Ser438=) c.576A>T (p.Ser192=) c.2097A>T (p.Ser699=) n.334A>T c.2226A>T (p.Ser742=) c.2128+5802A>T (n.2128+5802A>T) n.2434A>T n.2642A>T c.1851A>T (p.Ser617=) c.876A>T (p.Ser292=) c.1590A>T (p.Ser530=) n.2386A>T n.2594A>T | |
1 | g.197427759C>A | CA344037327 | CRB1 | c.2434C>A (p.Gln812Lys) c.1315C>A (p.Gln439Lys) c.577C>A (p.Gln193Lys) c.2098C>A (p.Gln700Lys) n.335C>A c.2227C>A (p.Gln743Lys) c.2128+5803C>A (n.2128+5803C>A) n.2435C>A n.2643C>A c.1852C>A (p.Gln618Lys) c.877C>A (p.Gln293Lys) c.1591C>A (p.Gln531Lys) n.2387C>A n.2595C>A | |
1 | g.197427759C= | CA1218066251 | CRB1 | c.2434C= (p.Gln812=) c.1315C= (p.Gln439=) c.577C= (p.Gln193=) c.2098C= (p.Gln700=) n.335C= c.2227C= (p.Gln743=) c.2128+5803C= (n.2128+5803C=) n.2435C= n.2643C= c.1852C= (p.Gln618=) c.877C= (p.Gln293=) c.1591C= (p.Gln531=) n.2387C= n.2595C= | |
1 | g.197427759C>G | CA344037331 | CRB1 | c.2434C>G (p.Gln812Glu) c.1315C>G (p.Gln439Glu) c.577C>G (p.Gln193Glu) c.2098C>G (p.Gln700Glu) n.335C>G c.2227C>G (p.Gln743Glu) c.2128+5803C>G (n.2128+5803C>G) n.2435C>G n.2643C>G c.1852C>G (p.Gln618Glu) c.877C>G (p.Gln293Glu) c.1591C>G (p.Gln531Glu) n.2387C>G n.2595C>G | |
1 | g.197427759C>T | CA344037329 | CRB1 | c.2434C>T (p.Gln812Ter) c.1315C>T (p.Gln439Ter) c.577C>T (p.Gln193Ter) c.2098C>T (p.Gln700Ter) n.335C>T c.2227C>T (p.Gln743Ter) c.2128+5803C>T (n.2128+5803C>T) n.2435C>T n.2643C>T c.1852C>T (p.Gln618Ter) c.877C>T (p.Gln293Ter) c.1591C>T (p.Gln531Ter) n.2387C>T n.2595C>T | |
1 | g.197427760A= | CA1218066253 | CRB1 | c.2435A= (p.Gln812=) c.1316A= (p.Gln439=) c.578A= (p.Gln193=) c.2099A= (p.Gln700=) n.336A= c.2228A= (p.Gln743=) c.2128+5804A= (n.2128+5804A=) n.2436A= n.2644A= c.1853A= (p.Gln618=) c.878A= (p.Gln293=) c.1592A= (p.Gln531=) n.2388A= n.2596A= | |
1 | g.197427760A>C | CA344037333 | CRB1 | c.2435A>C (p.Gln812Pro) c.1316A>C (p.Gln439Pro) c.578A>C (p.Gln193Pro) c.2099A>C (p.Gln700Pro) n.336A>C c.2228A>C (p.Gln743Pro) c.2128+5804A>C (n.2128+5804A>C) n.2436A>C n.2644A>C c.1853A>C (p.Gln618Pro) c.878A>C (p.Gln293Pro) c.1592A>C (p.Gln531Pro) n.2388A>C n.2596A>C | |
1 | g.197427760A>G | CA35900854 | CRB1 | c.2435A>G (p.Gln812Arg) c.1316A>G (p.Gln439Arg) c.578A>G (p.Gln193Arg) c.2099A>G (p.Gln700Arg) n.336A>G c.2228A>G (p.Gln743Arg) c.2128+5804A>G (n.2128+5804A>G) n.2436A>G n.2644A>G c.1853A>G (p.Gln618Arg) c.878A>G (p.Gln293Arg) c.1592A>G (p.Gln531Arg) n.2388A>G n.2596A>G | dbSNP gnomAD v4 |
1 | g.197427760A>T | CA344037334 | CRB1 | c.2435A>T (p.Gln812Leu) c.1316A>T (p.Gln439Leu) c.578A>T (p.Gln193Leu) c.2099A>T (p.Gln700Leu) n.336A>T c.2228A>T (p.Gln743Leu) c.2128+5804A>T (n.2128+5804A>T) n.2436A>T n.2644A>T c.1853A>T (p.Gln618Leu) c.878A>T (p.Gln293Leu) c.1592A>T (p.Gln531Leu) n.2388A>T n.2596A>T | COSMIC |
1 | g.197427763dup | CA1218066255 | CRB1 | c.2438dup (p.Asn813LysfsTer25) c.1319dup (p.Asn440LysfsTer25) c.581dup (p.Asn194LysfsTer25) c.2102dup (p.Asn701LysfsTer25) n.339dup c.2231dup (p.Asn744LysfsTer25) c.2128+5807dup (n.2128+5807dup) n.2439dup n.2647dup c.1856dup (p.Asn619LysfsTer25) c.881dup (p.Asn294LysfsTer25) c.1595dup (p.Asn532LysfsTer25) n.2391dup n.2599dup | dbSNP |
1 | g.197427761A>C | CA344037336 | CRB1 | c.2436A>C (p.Gln812His) c.1317A>C (p.Gln439His) c.579A>C (p.Gln193His) c.2100A>C (p.Gln700His) n.337A>C c.2229A>C (p.Gln743His) c.2128+5805A>C (n.2128+5805A>C) n.2437A>C n.2645A>C c.1854A>C (p.Gln618His) c.879A>C (p.Gln293His) c.1593A>C (p.Gln531His) n.2389A>C n.2597A>C | gnomAD v4 |
1 | g.197427761A>G | CA422808747 | CRB1 | c.2436A>G (p.Gln812=) c.1317A>G (p.Gln439=) c.579A>G (p.Gln193=) c.2100A>G (p.Gln700=) n.337A>G c.2229A>G (p.Gln743=) c.2128+5805A>G (n.2128+5805A>G) n.2437A>G n.2645A>G c.1854A>G (p.Gln618=) c.879A>G (p.Gln293=) c.1593A>G (p.Gln531=) n.2389A>G n.2597A>G | |
1 | g.197427761A>T | CA344037337 | CRB1 | c.2436A>T (p.Gln812His) c.1317A>T (p.Gln439His) c.579A>T (p.Gln193His) c.2100A>T (p.Gln700His) n.337A>T c.2229A>T (p.Gln743His) c.2128+5805A>T (n.2128+5805A>T) n.2437A>T n.2645A>T c.1854A>T (p.Gln618His) c.879A>T (p.Gln293His) c.1593A>T (p.Gln531His) n.2389A>T n.2597A>T | |
1 | g.197427762A>C | CA344037340 | CRB1 | c.2437A>C (p.Asn813His) c.1318A>C (p.Asn440His) c.580A>C (p.Asn194His) c.2101A>C (p.Asn701His) n.338A>C c.2230A>C (p.Asn744His) c.2128+5806A>C (n.2128+5806A>C) n.2438A>C n.2646A>C c.1855A>C (p.Asn619His) c.880A>C (p.Asn294His) c.1594A>C (p.Asn532His) n.2390A>C n.2598A>C | |
1 | g.197427762A>G | CA344037342 | CRB1 | c.2437A>G (p.Asn813Asp) c.1318A>G (p.Asn440Asp) c.580A>G (p.Asn194Asp) c.2101A>G (p.Asn701Asp) n.338A>G c.2230A>G (p.Asn744Asp) c.2128+5806A>G (n.2128+5806A>G) n.2438A>G n.2646A>G c.1855A>G (p.Asn619Asp) c.880A>G (p.Asn294Asp) c.1594A>G (p.Asn532Asp) n.2390A>G n.2598A>G | |
1 | g.197427762A>T | CA344037344 | CRB1 | c.2437A>T (p.Asn813Tyr) c.1318A>T (p.Asn440Tyr) c.580A>T (p.Asn194Tyr) c.2101A>T (p.Asn701Tyr) n.338A>T c.2230A>T (p.Asn744Tyr) c.2128+5806A>T (n.2128+5806A>T) n.2438A>T n.2646A>T c.1855A>T (p.Asn619Tyr) c.880A>T (p.Asn294Tyr) c.1594A>T (p.Asn532Tyr) n.2390A>T n.2598A>T | |
1 | g.197427763A>C | CA344037348 | CRB1 | c.2438A>C (p.Asn813Thr) c.1319A>C (p.Asn440Thr) c.581A>C (p.Asn194Thr) c.2102A>C (p.Asn701Thr) n.339A>C c.2231A>C (p.Asn744Thr) c.2128+5807A>C (n.2128+5807A>C) n.2439A>C n.2647A>C c.1856A>C (p.Asn619Thr) c.881A>C (p.Asn294Thr) c.1595A>C (p.Asn532Thr) n.2391A>C n.2599A>C | |
1 | g.197427763A>G | CA344037350 | CRB1 | c.2438A>G (p.Asn813Ser) c.1319A>G (p.Asn440Ser) c.581A>G (p.Asn194Ser) c.2102A>G (p.Asn701Ser) n.339A>G c.2231A>G (p.Asn744Ser) c.2128+5807A>G (n.2128+5807A>G) n.2439A>G n.2647A>G c.1856A>G (p.Asn619Ser) c.881A>G (p.Asn294Ser) c.1595A>G (p.Asn532Ser) n.2391A>G n.2599A>G | |
1 | g.197427763A>T | CA344037352 | CRB1 | c.2438A>T (p.Asn813Ile) c.1319A>T (p.Asn440Ile) c.581A>T (p.Asn194Ile) c.2102A>T (p.Asn701Ile) n.339A>T c.2231A>T (p.Asn744Ile) c.2128+5807A>T (n.2128+5807A>T) n.2439A>T n.2647A>T c.1856A>T (p.Asn619Ile) c.881A>T (p.Asn294Ile) c.1595A>T (p.Asn532Ile) n.2391A>T n.2599A>T | |
1 | g.197427764C>A | CA344037356 | CRB1 | c.2439C>A (p.Asn813Lys) c.1320C>A (p.Asn440Lys) c.582C>A (p.Asn194Lys) c.2103C>A (p.Asn701Lys) n.340C>A c.2232C>A (p.Asn744Lys) c.2128+5808C>A (n.2128+5808C>A) n.2440C>A n.2648C>A c.1857C>A (p.Asn619Lys) c.882C>A (p.Asn294Lys) c.1596C>A (p.Asn532Lys) n.2392C>A n.2600C>A | |
1 | g.197427764C>G | CA344037354 | CRB1 | c.2439C>G (p.Asn813Lys) c.1320C>G (p.Asn440Lys) c.582C>G (p.Asn194Lys) c.2103C>G (p.Asn701Lys) n.340C>G c.2232C>G (p.Asn744Lys) c.2128+5808C>G (n.2128+5808C>G) n.2440C>G n.2648C>G c.1857C>G (p.Asn619Lys) c.882C>G (p.Asn294Lys) c.1596C>G (p.Asn532Lys) n.2392C>G n.2600C>G | |
1 | g.197427764C>T | CA422808748 | CRB1 | c.2439C>T (p.Asn813=) c.1320C>T (p.Asn440=) c.582C>T (p.Asn194=) c.2103C>T (p.Asn701=) n.340C>T c.2232C>T (p.Asn744=) c.2128+5808C>T (n.2128+5808C>T) n.2440C>T n.2648C>T c.1857C>T (p.Asn619=) c.882C>T (p.Asn294=) c.1596C>T (p.Asn532=) n.2392C>T n.2600C>T | |
1 | g.197427765del | CA2649670120 | CRB1 | c.2440del (p.Leu814Ter) c.1321del (p.Leu441Ter) c.583del (p.Leu195Ter) c.2104del (p.Leu702Ter) n.341del c.2233del (p.Leu745Ter) c.2128+5809del (n.2128+5809del) n.2441del n.2649del c.1858del (p.Leu620Ter) c.883del (p.Leu295Ter) c.1597del (p.Leu533Ter) n.2393del n.2601del | gnomAD v4 |
1 | g.197427765C>A | CA344037360 | CRB1 | c.2440C>A (p.Leu814Ile) c.1321C>A (p.Leu441Ile) c.583C>A (p.Leu195Ile) c.2104C>A (p.Leu702Ile) n.341C>A c.2233C>A (p.Leu745Ile) c.2128+5809C>A (n.2128+5809C>A) n.2441C>A n.2649C>A c.1858C>A (p.Leu620Ile) c.883C>A (p.Leu295Ile) c.1597C>A (p.Leu533Ile) n.2393C>A n.2601C>A | |
1 | g.197427765C= | CA1218066256 | CRB1 | c.2440C= (p.Leu814=) c.1321C= (p.Leu441=) c.583C= (p.Leu195=) c.2104C= (p.Leu702=) n.341C= c.2233C= (p.Leu745=) c.2128+5809C= (n.2128+5809C=) n.2441C= n.2649C= c.1858C= (p.Leu620=) c.883C= (p.Leu295=) c.1597C= (p.Leu533=) n.2393C= n.2601C= | |
1 | g.197427765C>G | CA344037363 | CRB1 | c.2440C>G (p.Leu814Val) c.1321C>G (p.Leu441Val) c.583C>G (p.Leu195Val) c.2104C>G (p.Leu702Val) n.341C>G c.2233C>G (p.Leu745Val) c.2128+5809C>G (n.2128+5809C>G) n.2441C>G n.2649C>G c.1858C>G (p.Leu620Val) c.883C>G (p.Leu295Val) c.1597C>G (p.Leu533Val) n.2393C>G n.2601C>G | dbSNP |
1 | g.197427765C>T | CA422808751 | CRB1 | c.2440C>T (p.Leu814=) c.1321C>T (p.Leu441=) c.583C>T (p.Leu195=) c.2104C>T (p.Leu702=) n.341C>T c.2233C>T (p.Leu745=) c.2128+5809C>T (n.2128+5809C>T) n.2441C>T n.2649C>T c.1858C>T (p.Leu620=) c.883C>T (p.Leu295=) c.1597C>T (p.Leu533=) n.2393C>T n.2601C>T | |
1 | g.197427766T>A | CA228007 | CRB1 | c.2441T>A (p.Leu814Gln) c.1322T>A (p.Leu441Gln) c.584T>A (p.Leu195Gln) c.2105T>A (p.Leu702Gln) n.342T>A c.2234T>A (p.Leu745Gln) c.2128+5810T>A (n.2128+5810T>A) n.2442T>A n.2650T>A c.1859T>A (p.Leu620Gln) c.884T>A (p.Leu295Gln) c.1598T>A (p.Leu533Gln) n.2394T>A n.2602T>A | ClinVar dbSNP |
1 | g.197427766T>C | CA344037371 | CRB1 | c.2441T>C (p.Leu814Pro) c.1322T>C (p.Leu441Pro) c.584T>C (p.Leu195Pro) c.2105T>C (p.Leu702Pro) n.342T>C c.2234T>C (p.Leu745Pro) c.2128+5810T>C (n.2128+5810T>C) n.2442T>C n.2650T>C c.1859T>C (p.Leu620Pro) c.884T>C (p.Leu295Pro) c.1598T>C (p.Leu533Pro) n.2394T>C n.2602T>C | |
1 | g.197427766T>G | CA344037373 | CRB1 | c.2441T>G (p.Leu814Arg) c.1322T>G (p.Leu441Arg) c.584T>G (p.Leu195Arg) c.2105T>G (p.Leu702Arg) n.342T>G c.2234T>G (p.Leu745Arg) c.2128+5810T>G (n.2128+5810T>G) n.2442T>G n.2650T>G c.1859T>G (p.Leu620Arg) c.884T>G (p.Leu295Arg) c.1598T>G (p.Leu533Arg) n.2394T>G n.2602T>G | |
1 | g.197427766T= | CA1140762943 | CRB1 | c.2441T= (p.Leu814=) c.1322T= (p.Leu441=) c.584T= (p.Leu195=) c.2105T= (p.Leu702=) n.342T= c.2234T= (p.Leu745=) c.2128+5810T= (n.2128+5810T=) n.2442T= n.2650T= c.1859T= (p.Leu620=) c.884T= (p.Leu295=) c.1598T= (p.Leu533=) n.2394T= n.2602T= | |
1 | g.197427766_197427767del | CA2586964523 | CRB1 | c.2441_2442del (p.Leu814ArgfsTer23) c.1322_1323del (p.Leu441ArgfsTer23) c.584_585del (p.Leu195ArgfsTer23) c.2105_2106del (p.Leu702ArgfsTer23) n.342_343del c.2234_2235del (p.Leu745ArgfsTer23) c.2128+5810_2128+5811del (n.2128+5810_2128+5811del) n.2442_2443del n.2650_2651del c.1859_1860del (p.Leu620ArgfsTer23) c.884_885del (p.Leu295ArgfsTer23) c.1598_1599del (p.Leu533ArgfsTer23) n.2394_2395del n.2602_2603del | |
1 | g.197427767A>C | CA422808752 | CRB1 | c.2442A>C (p.Leu814=) c.1323A>C (p.Leu441=) c.585A>C (p.Leu195=) c.2106A>C (p.Leu702=) n.343A>C c.2235A>C (p.Leu745=) c.2128+5811A>C (n.2128+5811A>C) n.2443A>C n.2651A>C c.1860A>C (p.Leu620=) c.885A>C (p.Leu295=) c.1599A>C (p.Leu533=) n.2395A>C n.2603A>C | |
1 | g.197427767A>G | CA422808754 | CRB1 | c.2442A>G (p.Leu814=) c.1323A>G (p.Leu441=) c.585A>G (p.Leu195=) c.2106A>G (p.Leu702=) n.343A>G c.2235A>G (p.Leu745=) c.2128+5811A>G (n.2128+5811A>G) n.2443A>G n.2651A>G c.1860A>G (p.Leu620=) c.885A>G (p.Leu295=) c.1599A>G (p.Leu533=) n.2395A>G n.2603A>G | |
1 | g.197427767A>T | CA422808756 | CRB1 | c.2442A>T (p.Leu814=) c.1323A>T (p.Leu441=) c.585A>T (p.Leu195=) c.2106A>T (p.Leu702=) n.343A>T c.2235A>T (p.Leu745=) c.2128+5811A>T (n.2128+5811A>T) n.2443A>T n.2651A>T c.1860A>T (p.Leu620=) c.885A>T (p.Leu295=) c.1599A>T (p.Leu533=) n.2395A>T n.2603A>T | |
1 | g.197427768G>A | CA344037378 | CRB1 | c.2443G>A (p.Gly815Arg) c.1324G>A (p.Gly442Arg) c.586G>A (p.Gly196Arg) c.2107G>A (p.Gly703Arg) n.344G>A c.2236G>A (p.Gly746Arg) c.2128+5812G>A (n.2128+5812G>A) n.2444G>A n.2652G>A c.1861G>A (p.Gly621Arg) c.886G>A (p.Gly296Arg) c.1600G>A (p.Gly534Arg) n.2396G>A n.2604G>A | COSMIC |
1 | g.197427768G>C | CA344037381 | CRB1 | c.2443G>C (p.Gly815Arg) c.1324G>C (p.Gly442Arg) c.586G>C (p.Gly196Arg) c.2107G>C (p.Gly703Arg) n.344G>C c.2236G>C (p.Gly746Arg) c.2128+5812G>C (n.2128+5812G>C) n.2444G>C n.2652G>C c.1861G>C (p.Gly621Arg) c.886G>C (p.Gly296Arg) c.1600G>C (p.Gly534Arg) n.2396G>C n.2604G>C | |
1 | g.197427768G>T | CA344037383 | CRB1 | c.2443G>T (p.Gly815Ter) c.1324G>T (p.Gly442Ter) c.586G>T (p.Gly196Ter) c.2107G>T (p.Gly703Ter) n.344G>T c.2236G>T (p.Gly746Ter) c.2128+5812G>T (n.2128+5812G>T) n.2444G>T n.2652G>T c.1861G>T (p.Gly621Ter) c.886G>T (p.Gly296Ter) c.1600G>T (p.Gly534Ter) n.2396G>T n.2604G>T | |
1 | g.197427768_197427769delinsAA | CA645534549 | CRB1 | c.2443_2444delinsAA (p.Gly815Lys) c.1324_1325delinsAA (p.Gly442Lys) c.586_587delinsAA (p.Gly196Lys) c.2107_2108delinsAA (p.Gly703Lys) n.344_345delinsAA c.2236_2237delinsAA (p.Gly746Lys) c.2128+5812_2128+5813delinsAA (n.2128+5812_2128+5813delinsAA) n.2444_2445delinsAA n.2652_2653delinsAA c.1861_1862delinsAA (p.Gly621Lys) c.886_887delinsAA (p.Gly296Lys) c.1600_1601delinsAA (p.Gly534Lys) n.2396_2397delinsAA n.2604_2605delinsAA | COSMIC |
1 | g.197427769G>A | CA344037388 | CRB1 | c.2444G>A (p.Gly815Glu) c.1325G>A (p.Gly442Glu) c.587G>A (p.Gly196Glu) c.2108G>A (p.Gly703Glu) n.345G>A c.2237G>A (p.Gly746Glu) c.2128+5813G>A (n.2128+5813G>A) n.2445G>A n.2653G>A c.1862G>A (p.Gly621Glu) c.887G>A (p.Gly296Glu) c.1601G>A (p.Gly534Glu) n.2397G>A n.2605G>A | COSMIC COSMIC |
1 | g.197427769G>C | CA344037390 | CRB1 | c.2444G>C (p.Gly815Ala) c.1325G>C (p.Gly442Ala) c.587G>C (p.Gly196Ala) c.2108G>C (p.Gly703Ala) n.345G>C c.2237G>C (p.Gly746Ala) c.2128+5813G>C (n.2128+5813G>C) n.2445G>C n.2653G>C c.1862G>C (p.Gly621Ala) c.887G>C (p.Gly296Ala) c.1601G>C (p.Gly534Ala) n.2397G>C n.2605G>C | |
1 | g.197427769G>T | CA344037393 | CRB1 | c.2444G>T (p.Gly815Val) c.1325G>T (p.Gly442Val) c.587G>T (p.Gly196Val) c.2108G>T (p.Gly703Val) n.345G>T c.2237G>T (p.Gly746Val) c.2128+5813G>T (n.2128+5813G>T) n.2445G>T n.2653G>T c.1862G>T (p.Gly621Val) c.887G>T (p.Gly296Val) c.1601G>T (p.Gly534Val) n.2397G>T n.2605G>T | gnomAD v4 |
1 | g.197427770A>C | CA422808758 | CRB1 | c.2445A>C (p.Gly815=) c.1326A>C (p.Gly442=) c.588A>C (p.Gly196=) c.2109A>C (p.Gly703=) n.346A>C c.2238A>C (p.Gly746=) c.2128+5814A>C (n.2128+5814A>C) n.2446A>C n.2654A>C c.1863A>C (p.Gly621=) c.888A>C (p.Gly296=) c.1602A>C (p.Gly534=) n.2398A>C n.2606A>C | |
1 | g.197427770A>G | CA422808762 | CRB1 | c.2445A>G (p.Gly815=) c.1326A>G (p.Gly442=) c.588A>G (p.Gly196=) c.2109A>G (p.Gly703=) n.346A>G c.2238A>G (p.Gly746=) c.2128+5814A>G (n.2128+5814A>G) n.2446A>G n.2654A>G c.1863A>G (p.Gly621=) c.888A>G (p.Gly296=) c.1602A>G (p.Gly534=) n.2398A>G n.2606A>G | |
1 | g.197427770A>T | CA422808760 | CRB1 | c.2445A>T (p.Gly815=) c.1326A>T (p.Gly442=) c.588A>T (p.Gly196=) c.2109A>T (p.Gly703=) n.346A>T c.2238A>T (p.Gly746=) c.2128+5814A>T (n.2128+5814A>T) n.2446A>T n.2654A>T c.1863A>T (p.Gly621=) c.888A>T (p.Gly296=) c.1602A>T (p.Gly534=) n.2398A>T n.2606A>T | |
1 | g.197427771T>A | CA344037401 | CRB1 | c.2446T>A (p.Phe816Ile) c.1327T>A (p.Phe443Ile) c.589T>A (p.Phe197Ile) c.2110T>A (p.Phe704Ile) n.347T>A c.2239T>A (p.Phe747Ile) c.2128+5815T>A (n.2128+5815T>A) n.2447T>A n.2655T>A c.1864T>A (p.Phe622Ile) c.889T>A (p.Phe297Ile) c.1603T>A (p.Phe535Ile) n.2399T>A n.2607T>A | |
1 | g.197427771T>C | CA344037404 | CRB1 | c.2446T>C (p.Phe816Leu) c.1327T>C (p.Phe443Leu) c.589T>C (p.Phe197Leu) c.2110T>C (p.Phe704Leu) n.347T>C c.2239T>C (p.Phe747Leu) c.2128+5815T>C (n.2128+5815T>C) n.2447T>C n.2655T>C c.1864T>C (p.Phe622Leu) c.889T>C (p.Phe297Leu) c.1603T>C (p.Phe535Leu) n.2399T>C n.2607T>C | |
1 | g.197427771T>G | CA344037397 | CRB1 | c.2446T>G (p.Phe816Val) c.1327T>G (p.Phe443Val) c.589T>G (p.Phe197Val) c.2110T>G (p.Phe704Val) n.347T>G c.2239T>G (p.Phe747Val) c.2128+5815T>G (n.2128+5815T>G) n.2447T>G n.2655T>G c.1864T>G (p.Phe622Val) c.889T>G (p.Phe297Val) c.1603T>G (p.Phe535Val) n.2399T>G n.2607T>G | dbSNP |
1 | g.197427771T= | CA1218066260 | CRB1 | c.2446T= (p.Phe816=) c.1327T= (p.Phe443=) c.589T= (p.Phe197=) c.2110T= (p.Phe704=) n.347T= c.2239T= (p.Phe747=) c.2128+5815T= (n.2128+5815T=) n.2447T= n.2655T= c.1864T= (p.Phe622=) c.889T= (p.Phe297=) c.1603T= (p.Phe535=) n.2399T= n.2607T= | |
1 | g.197427772T>A | CA344037411 | CRB1 | c.2447T>A (p.Phe816Tyr) c.1328T>A (p.Phe443Tyr) c.590T>A (p.Phe197Tyr) c.2111T>A (p.Phe704Tyr) n.348T>A c.2240T>A (p.Phe747Tyr) c.2128+5816T>A (n.2128+5816T>A) n.2448T>A n.2656T>A c.1865T>A (p.Phe622Tyr) c.890T>A (p.Phe297Tyr) c.1604T>A (p.Phe535Tyr) n.2400T>A n.2608T>A | |
1 | g.197427772T>C | CA344037413 | CRB1 | c.2447T>C (p.Phe816Ser) c.1328T>C (p.Phe443Ser) c.590T>C (p.Phe197Ser) c.2111T>C (p.Phe704Ser) n.348T>C c.2240T>C (p.Phe747Ser) c.2128+5816T>C (n.2128+5816T>C) n.2448T>C n.2656T>C c.1865T>C (p.Phe622Ser) c.890T>C (p.Phe297Ser) c.1604T>C (p.Phe535Ser) n.2400T>C n.2608T>C | |
1 | g.197427772T>G | CA344037417 | CRB1 | c.2447T>G (p.Phe816Cys) c.1328T>G (p.Phe443Cys) c.590T>G (p.Phe197Cys) c.2111T>G (p.Phe704Cys) n.348T>G c.2240T>G (p.Phe747Cys) c.2128+5816T>G (n.2128+5816T>G) n.2448T>G n.2656T>G c.1865T>G (p.Phe622Cys) c.890T>G (p.Phe297Cys) c.1604T>G (p.Phe535Cys) n.2400T>G n.2608T>G | |
1 | g.197427773T>A | CA344037419 | CRB1 | c.2448T>A (p.Phe816Leu) c.1329T>A (p.Phe443Leu) c.591T>A (p.Phe197Leu) c.2112T>A (p.Phe704Leu) n.349T>A c.2241T>A (p.Phe747Leu) c.2128+5817T>A (n.2128+5817T>A) n.2449T>A n.2657T>A c.1866T>A (p.Phe622Leu) c.891T>A (p.Phe297Leu) c.1605T>A (p.Phe535Leu) n.2401T>A n.2609T>A | |
1 | g.197427773T>C | CA422808764 | CRB1 | c.2448T>C (p.Phe816=) c.1329T>C (p.Phe443=) c.591T>C (p.Phe197=) c.2112T>C (p.Phe704=) n.349T>C c.2241T>C (p.Phe747=) c.2128+5817T>C (n.2128+5817T>C) n.2449T>C n.2657T>C c.1866T>C (p.Phe622=) c.891T>C (p.Phe297=) c.1605T>C (p.Phe535=) n.2401T>C n.2609T>C | |
1 | g.197427773T>G | CA344037421 | CRB1 | c.2448T>G (p.Phe816Leu) c.1329T>G (p.Phe443Leu) c.591T>G (p.Phe197Leu) c.2112T>G (p.Phe704Leu) n.349T>G c.2241T>G (p.Phe747Leu) c.2128+5817T>G (n.2128+5817T>G) n.2449T>G n.2657T>G c.1866T>G (p.Phe622Leu) c.891T>G (p.Phe297Leu) c.1605T>G (p.Phe535Leu) n.2401T>G n.2609T>G | |
1 | g.197427774A>C | CA344037426 | CRB1 | c.2449A>C (p.Ile817Leu) c.1330A>C (p.Ile444Leu) c.592A>C (p.Ile198Leu) c.2113A>C (p.Ile705Leu) n.350A>C c.2242A>C (p.Ile748Leu) c.2128+5818A>C (n.2128+5818A>C) n.2450A>C n.2658A>C c.1867A>C (p.Ile623Leu) c.892A>C (p.Ile298Leu) c.1606A>C (p.Ile536Leu) n.2402A>C n.2610A>C | |
1 | g.197427774A>G | CA344037428 | CRB1 | c.2449A>G (p.Ile817Val) c.1330A>G (p.Ile444Val) c.592A>G (p.Ile198Val) c.2113A>G (p.Ile705Val) n.350A>G c.2242A>G (p.Ile748Val) c.2128+5818A>G (n.2128+5818A>G) n.2450A>G n.2658A>G c.1867A>G (p.Ile623Val) c.892A>G (p.Ile298Val) c.1606A>G (p.Ile536Val) n.2402A>G n.2610A>G | |
1 | g.197427774A>T | CA344037430 | CRB1 | c.2449A>T (p.Ile817Phe) c.1330A>T (p.Ile444Phe) c.592A>T (p.Ile198Phe) c.2113A>T (p.Ile705Phe) n.350A>T c.2242A>T (p.Ile748Phe) c.2128+5818A>T (n.2128+5818A>T) n.2450A>T n.2658A>T c.1867A>T (p.Ile623Phe) c.892A>T (p.Ile298Phe) c.1606A>T (p.Ile536Phe) n.2402A>T n.2610A>T | |
1 | g.197427775T>A | CA344037435 | CRB1 | c.2450T>A (p.Ile817Asn) c.1331T>A (p.Ile444Asn) c.593T>A (p.Ile198Asn) c.2114T>A (p.Ile705Asn) n.351T>A c.2243T>A (p.Ile748Asn) c.2128+5819T>A (n.2128+5819T>A) n.2451T>A n.2659T>A c.1868T>A (p.Ile623Asn) c.893T>A (p.Ile298Asn) c.1607T>A (p.Ile536Asn) n.2403T>A n.2611T>A | |
1 | g.197427775T>C | CA344037437 | CRB1 | c.2450T>C (p.Ile817Thr) c.1331T>C (p.Ile444Thr) c.593T>C (p.Ile198Thr) c.2114T>C (p.Ile705Thr) n.351T>C c.2243T>C (p.Ile748Thr) c.2128+5819T>C (n.2128+5819T>C) n.2451T>C n.2659T>C c.1868T>C (p.Ile623Thr) c.893T>C (p.Ile298Thr) c.1607T>C (p.Ile536Thr) n.2403T>C n.2611T>C | |
1 | g.197427775T>G | CA344037439 | CRB1 | c.2450T>G (p.Ile817Ser) c.1331T>G (p.Ile444Ser) c.593T>G (p.Ile198Ser) c.2114T>G (p.Ile705Ser) n.351T>G c.2243T>G (p.Ile748Ser) c.2128+5819T>G (n.2128+5819T>G) n.2451T>G n.2659T>G c.1868T>G (p.Ile623Ser) c.893T>G (p.Ile298Ser) c.1607T>G (p.Ile536Ser) n.2403T>G n.2611T>G | |
1 | g.197427776T>A | CA422808767 | CRB1 | c.2451T>A (p.Ile817=) c.1332T>A (p.Ile444=) c.594T>A (p.Ile198=) c.2115T>A (p.Ile705=) n.352T>A c.2244T>A (p.Ile748=) c.2128+5820T>A (n.2128+5820T>A) n.2452T>A n.2660T>A c.1869T>A (p.Ile623=) c.894T>A (p.Ile298=) c.1608T>A (p.Ile536=) n.2404T>A n.2612T>A | |
1 | g.197427776T>C | CA422808768 | CRB1 | c.2451T>C (p.Ile817=) c.1332T>C (p.Ile444=) c.594T>C (p.Ile198=) c.2115T>C (p.Ile705=) n.352T>C c.2244T>C (p.Ile748=) c.2128+5820T>C (n.2128+5820T>C) n.2452T>C n.2660T>C c.1869T>C (p.Ile623=) c.894T>C (p.Ile298=) c.1608T>C (p.Ile536=) n.2404T>C n.2612T>C | |
1 | g.197427776T>G | CA344037440 | CRB1 | c.2451T>G (p.Ile817Met) c.1332T>G (p.Ile444Met) c.594T>G (p.Ile198Met) c.2115T>G (p.Ile705Met) n.352T>G c.2244T>G (p.Ile748Met) c.2128+5820T>G (n.2128+5820T>G) n.2452T>G n.2660T>G c.1869T>G (p.Ile623Met) c.894T>G (p.Ile298Met) c.1608T>G (p.Ile536Met) n.2404T>G n.2612T>G | |
1 | g.197427777T>A | CA344037449 | CRB1 | c.2452T>A (p.Ser818Thr) c.1333T>A (p.Ser445Thr) c.595T>A (p.Ser199Thr) c.2116T>A (p.Ser706Thr) n.353T>A c.2245T>A (p.Ser749Thr) c.2128+5821T>A (n.2128+5821T>A) n.2453T>A n.2661T>A c.1870T>A (p.Ser624Thr) c.895T>A (p.Ser299Thr) c.1609T>A (p.Ser537Thr) n.2405T>A n.2613T>A | |
1 | g.197427777T>C | CA344037443 | CRB1 | c.2452T>C (p.Ser818Pro) c.1333T>C (p.Ser445Pro) c.595T>C (p.Ser199Pro) c.2116T>C (p.Ser706Pro) n.353T>C c.2245T>C (p.Ser749Pro) c.2128+5821T>C (n.2128+5821T>C) n.2453T>C n.2661T>C c.1870T>C (p.Ser624Pro) c.895T>C (p.Ser299Pro) c.1609T>C (p.Ser537Pro) n.2405T>C n.2613T>C | |
1 | g.197427777T>G | CA344037446 | CRB1 | c.2452T>G (p.Ser818Ala) c.1333T>G (p.Ser445Ala) c.595T>G (p.Ser199Ala) c.2116T>G (p.Ser706Ala) n.353T>G c.2245T>G (p.Ser749Ala) c.2128+5821T>G (n.2128+5821T>G) n.2453T>G n.2661T>G c.1870T>G (p.Ser624Ala) c.895T>G (p.Ser299Ala) c.1609T>G (p.Ser537Ala) n.2405T>G n.2613T>G | |
1 | g.197427778C>A | CA344037454 | CRB1 | c.2453C>A (p.Ser818Tyr) c.1334C>A (p.Ser445Tyr) c.596C>A (p.Ser199Tyr) c.2117C>A (p.Ser706Tyr) n.354C>A c.2246C>A (p.Ser749Tyr) c.2128+5822C>A (n.2128+5822C>A) n.2454C>A n.2662C>A c.1871C>A (p.Ser624Tyr) c.896C>A (p.Ser299Tyr) c.1610C>A (p.Ser537Tyr) n.2406C>A n.2614C>A | gnomAD v4 |
1 | g.197427778C>G | CA344037457 | CRB1 | c.2453C>G (p.Ser818Cys) c.1334C>G (p.Ser445Cys) c.596C>G (p.Ser199Cys) c.2117C>G (p.Ser706Cys) n.354C>G c.2246C>G (p.Ser749Cys) c.2128+5822C>G (n.2128+5822C>G) n.2454C>G n.2662C>G c.1871C>G (p.Ser624Cys) c.896C>G (p.Ser299Cys) c.1610C>G (p.Ser537Cys) n.2406C>G n.2614C>G | |
1 | g.197427778C>T | CA344037460 | CRB1 | c.2453C>T (p.Ser818Phe) c.1334C>T (p.Ser445Phe) c.596C>T (p.Ser199Phe) c.2117C>T (p.Ser706Phe) n.354C>T c.2246C>T (p.Ser749Phe) c.2128+5822C>T (n.2128+5822C>T) n.2454C>T n.2662C>T c.1871C>T (p.Ser624Phe) c.896C>T (p.Ser299Phe) c.1610C>T (p.Ser537Phe) n.2406C>T n.2614C>T | COSMIC |
1 | g.197427779T>A | CA422808770 | CRB1 | c.2454T>A (p.Ser818=) c.1335T>A (p.Ser445=) c.597T>A (p.Ser199=) c.2118T>A (p.Ser706=) n.355T>A c.2247T>A (p.Ser749=) c.2128+5823T>A (n.2128+5823T>A) n.2455T>A n.2663T>A c.1872T>A (p.Ser624=) c.897T>A (p.Ser299=) c.1611T>A (p.Ser537=) n.2407T>A n.2615T>A | |
1 | g.197427779T>C | CA422808771 | CRB1 | c.2454T>C (p.Ser818=) c.1335T>C (p.Ser445=) c.597T>C (p.Ser199=) c.2118T>C (p.Ser706=) n.355T>C c.2247T>C (p.Ser749=) c.2128+5823T>C (n.2128+5823T>C) n.2455T>C n.2663T>C c.1872T>C (p.Ser624=) c.897T>C (p.Ser299=) c.1611T>C (p.Ser537=) n.2407T>C n.2615T>C | |
1 | g.197427779T>G | CA422808772 | CRB1 | c.2454T>G (p.Ser818=) c.1335T>G (p.Ser445=) c.597T>G (p.Ser199=) c.2118T>G (p.Ser706=) n.355T>G c.2247T>G (p.Ser749=) c.2128+5823T>G (n.2128+5823T>G) n.2455T>G n.2663T>G c.1872T>G (p.Ser624=) c.897T>G (p.Ser299=) c.1611T>G (p.Ser537=) n.2407T>G n.2615T>G | |
1 | g.197427780G>A | CA344037464 | CRB1 | c.2455G>A (p.Ala819Thr) c.1336G>A (p.Ala446Thr) c.598G>A (p.Ala200Thr) c.2119G>A (p.Ala707Thr) n.356G>A c.2248G>A (p.Ala750Thr) c.2128+5824G>A (n.2128+5824G>A) n.2456G>A n.2664G>A c.1873G>A (p.Ala625Thr) c.898G>A (p.Ala300Thr) c.1612G>A (p.Ala538Thr) n.2408G>A n.2616G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197427780G>C | CA344037467 | CRB1 | c.2455G>C (p.Ala819Pro) c.1336G>C (p.Ala446Pro) c.598G>C (p.Ala200Pro) c.2119G>C (p.Ala707Pro) n.356G>C c.2248G>C (p.Ala750Pro) c.2128+5824G>C (n.2128+5824G>C) n.2456G>C n.2664G>C c.1873G>C (p.Ala625Pro) c.898G>C (p.Ala300Pro) c.1612G>C (p.Ala538Pro) n.2408G>C n.2616G>C | |
1 | g.197427780G= | CA1218066263 | CRB1 | c.2455G= (p.Ala819=) c.1336G= (p.Ala446=) c.598G= (p.Ala200=) c.2119G= (p.Ala707=) n.356G= c.2248G= (p.Ala750=) c.2128+5824G= (n.2128+5824G=) n.2456G= n.2664G= c.1873G= (p.Ala625=) c.898G= (p.Ala300=) c.1612G= (p.Ala538=) n.2408G= n.2616G= | |
1 | g.197427780G>T | CA344037470 | CRB1 | c.2455G>T (p.Ala819Ser) c.1336G>T (p.Ala446Ser) c.598G>T (p.Ala200Ser) c.2119G>T (p.Ala707Ser) n.356G>T c.2248G>T (p.Ala750Ser) c.2128+5824G>T (n.2128+5824G>T) n.2456G>T n.2664G>T c.1873G>T (p.Ala625Ser) c.898G>T (p.Ala300Ser) c.1612G>T (p.Ala538Ser) n.2408G>T n.2616G>T | gnomAD v4 |
1 | g.197427781C>A | CA344037478 | CRB1 | c.2456C>A (p.Ala819Asp) c.1337C>A (p.Ala446Asp) c.599C>A (p.Ala200Asp) c.2120C>A (p.Ala707Asp) n.357C>A c.2249C>A (p.Ala750Asp) c.2128+5825C>A (n.2128+5825C>A) n.2457C>A n.2665C>A c.1874C>A (p.Ala625Asp) c.899C>A (p.Ala300Asp) c.1613C>A (p.Ala538Asp) n.2409C>A n.2617C>A | |
1 | g.197427781C>G | CA344037480 | CRB1 | c.2456C>G (p.Ala819Gly) c.1337C>G (p.Ala446Gly) c.599C>G (p.Ala200Gly) c.2120C>G (p.Ala707Gly) n.357C>G c.2249C>G (p.Ala750Gly) c.2128+5825C>G (n.2128+5825C>G) n.2457C>G n.2665C>G c.1874C>G (p.Ala625Gly) c.899C>G (p.Ala300Gly) c.1613C>G (p.Ala538Gly) n.2409C>G n.2617C>G | |
1 | g.197427781C>T | CA344037482 | CRB1 | c.2456C>T (p.Ala819Val) c.1337C>T (p.Ala446Val) c.599C>T (p.Ala200Val) c.2120C>T (p.Ala707Val) n.357C>T c.2249C>T (p.Ala750Val) c.2128+5825C>T (n.2128+5825C>T) n.2457C>T n.2665C>T c.1874C>T (p.Ala625Val) c.899C>T (p.Ala300Val) c.1613C>T (p.Ala538Val) n.2409C>T n.2617C>T | gnomAD v4 |
1 | g.197427782T>A | CA422808775 | CRB1 | c.2457T>A (p.Ala819=) c.1338T>A (p.Ala446=) c.600T>A (p.Ala200=) c.2121T>A (p.Ala707=) n.358T>A c.2250T>A (p.Ala750=) c.2128+5826T>A (n.2128+5826T>A) n.2458T>A n.2666T>A c.1875T>A (p.Ala625=) c.900T>A (p.Ala300=) c.1614T>A (p.Ala538=) n.2410T>A n.2618T>A | |
1 | g.197427782T>C | CA422808777 | CRB1 | c.2457T>C (p.Ala819=) c.1338T>C (p.Ala446=) c.600T>C (p.Ala200=) c.2121T>C (p.Ala707=) n.358T>C c.2250T>C (p.Ala750=) c.2128+5826T>C (n.2128+5826T>C) n.2458T>C n.2666T>C c.1875T>C (p.Ala625=) c.900T>C (p.Ala300=) c.1614T>C (p.Ala538=) n.2410T>C n.2618T>C | |
1 | g.197427782T>G | CA422808778 | CRB1 | c.2457T>G (p.Ala819=) c.1338T>G (p.Ala446=) c.600T>G (p.Ala200=) c.2121T>G (p.Ala707=) n.358T>G c.2250T>G (p.Ala750=) c.2128+5826T>G (n.2128+5826T>G) n.2458T>G n.2666T>G c.1875T>G (p.Ala625=) c.900T>G (p.Ala300=) c.1614T>G (p.Ala538=) n.2410T>G n.2618T>G | |
1 | g.197427783T>A | CA344037484 | CRB1 | c.2458T>A (p.Ser820Thr) c.1339T>A (p.Ser447Thr) c.601T>A (p.Ser201Thr) c.2122T>A (p.Ser708Thr) n.359T>A c.2251T>A (p.Ser751Thr) c.2128+5827T>A (n.2128+5827T>A) n.2459T>A n.2667T>A c.1876T>A (p.Ser626Thr) c.901T>A (p.Ser301Thr) c.1615T>A (p.Ser539Thr) n.2411T>A n.2619T>A | |
1 | g.197427783T>C | CA344037486 | CRB1 | c.2458T>C (p.Ser820Pro) c.1339T>C (p.Ser447Pro) c.601T>C (p.Ser201Pro) c.2122T>C (p.Ser708Pro) n.359T>C c.2251T>C (p.Ser751Pro) c.2128+5827T>C (n.2128+5827T>C) n.2459T>C n.2667T>C c.1876T>C (p.Ser626Pro) c.901T>C (p.Ser301Pro) c.1615T>C (p.Ser539Pro) n.2411T>C n.2619T>C | |
1 | g.197427783T>G | CA344037489 | CRB1 | c.2458T>G (p.Ser820Ala) c.1339T>G (p.Ser447Ala) c.601T>G (p.Ser201Ala) c.2122T>G (p.Ser708Ala) n.359T>G c.2251T>G (p.Ser751Ala) c.2128+5827T>G (n.2128+5827T>G) n.2459T>G n.2667T>G c.1876T>G (p.Ser626Ala) c.901T>G (p.Ser301Ala) c.1615T>G (p.Ser539Ala) n.2411T>G n.2619T>G | |
1 | g.197427784C>A | CA344037500 | CRB1 | c.2459C>A (p.Ser820Tyr) c.1340C>A (p.Ser447Tyr) c.602C>A (p.Ser201Tyr) c.2123C>A (p.Ser708Tyr) n.360C>A c.2252C>A (p.Ser751Tyr) c.2128+5828C>A (n.2128+5828C>A) n.2460C>A n.2668C>A c.1877C>A (p.Ser626Tyr) c.902C>A (p.Ser301Tyr) c.1616C>A (p.Ser539Tyr) n.2412C>A n.2620C>A | |
1 | g.197427784C= | CA1218066266 | CRB1 | c.2459C= (p.Ser820=) c.1340C= (p.Ser447=) c.602C= (p.Ser201=) c.2123C= (p.Ser708=) n.360C= c.2252C= (p.Ser751=) c.2128+5828C= (n.2128+5828C=) n.2460C= n.2668C= c.1877C= (p.Ser626=) c.902C= (p.Ser301=) c.1616C= (p.Ser539=) n.2412C= n.2620C= | |
1 | g.197427784C>G | CA344037496 | CRB1 | c.2459C>G (p.Ser820Cys) c.1340C>G (p.Ser447Cys) c.602C>G (p.Ser201Cys) c.2123C>G (p.Ser708Cys) n.360C>G c.2252C>G (p.Ser751Cys) c.2128+5828C>G (n.2128+5828C>G) n.2460C>G n.2668C>G c.1877C>G (p.Ser626Cys) c.902C>G (p.Ser301Cys) c.1616C>G (p.Ser539Cys) n.2412C>G n.2620C>G | gnomAD v4 |
1 | g.197427784C>T | CA1312122 | CRB1 | c.2459C>T (p.Ser820Phe) c.1340C>T (p.Ser447Phe) c.602C>T (p.Ser201Phe) c.2123C>T (p.Ser708Phe) n.360C>T c.2252C>T (p.Ser751Phe) c.2128+5828C>T (n.2128+5828C>T) n.2460C>T n.2668C>T c.1877C>T (p.Ser626Phe) c.902C>T (p.Ser301Phe) c.1616C>T (p.Ser539Phe) n.2412C>T n.2620C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.197427785T>A | CA422808783 | CRB1 | c.2460T>A (p.Ser820=) c.1341T>A (p.Ser447=) c.603T>A (p.Ser201=) c.2124T>A (p.Ser708=) n.361T>A c.2253T>A (p.Ser751=) c.2128+5829T>A (n.2128+5829T>A) n.2461T>A n.2669T>A c.1878T>A (p.Ser626=) c.903T>A (p.Ser301=) c.1617T>A (p.Ser539=) n.2413T>A n.2621T>A | |
1 | g.197427785T>C | CA422808780 | CRB1 | c.2460T>C (p.Ser820=) c.1341T>C (p.Ser447=) c.603T>C (p.Ser201=) c.2124T>C (p.Ser708=) n.361T>C c.2253T>C (p.Ser751=) c.2128+5829T>C (n.2128+5829T>C) n.2461T>C n.2669T>C c.1878T>C (p.Ser626=) c.903T>C (p.Ser301=) c.1617T>C (p.Ser539=) n.2413T>C n.2621T>C | |
1 | g.197427785T>G | CA422808782 | CRB1 | c.2460T>G (p.Ser820=) c.1341T>G (p.Ser447=) c.603T>G (p.Ser201=) c.2124T>G (p.Ser708=) n.361T>G c.2253T>G (p.Ser751=) c.2128+5829T>G (n.2128+5829T>G) n.2461T>G n.2669T>G c.1878T>G (p.Ser626=) c.903T>G (p.Ser301=) c.1617T>G (p.Ser539=) n.2413T>G n.2621T>G | |
1 | g.197427786A>C | CA344037505 | CRB1 | c.2461A>C (p.Thr821Pro) c.1342A>C (p.Thr448Pro) c.604A>C (p.Thr202Pro) c.2125A>C (p.Thr709Pro) n.362A>C c.2254A>C (p.Thr752Pro) c.2128+5830A>C (n.2128+5830A>C) n.2462A>C n.2670A>C c.1879A>C (p.Thr627Pro) c.904A>C (p.Thr302Pro) c.1618A>C (p.Thr540Pro) n.2414A>C n.2622A>C | |
1 | g.197427786A>G | CA344037511 | CRB1 | c.2461A>G (p.Thr821Ala) c.1342A>G (p.Thr448Ala) c.604A>G (p.Thr202Ala) c.2125A>G (p.Thr709Ala) n.362A>G c.2254A>G (p.Thr752Ala) c.2128+5830A>G (n.2128+5830A>G) n.2462A>G n.2670A>G c.1879A>G (p.Thr627Ala) c.904A>G (p.Thr302Ala) c.1618A>G (p.Thr540Ala) n.2414A>G n.2622A>G | |
1 | g.197427786A>T | CA344037507 | CRB1 | c.2461A>T (p.Thr821Ser) c.1342A>T (p.Thr448Ser) c.604A>T (p.Thr202Ser) c.2125A>T (p.Thr709Ser) n.362A>T c.2254A>T (p.Thr752Ser) c.2128+5830A>T (n.2128+5830A>T) n.2462A>T n.2670A>T c.1879A>T (p.Thr627Ser) c.904A>T (p.Thr302Ser) c.1618A>T (p.Thr540Ser) n.2414A>T n.2622A>T | |
1 | g.197427787C>A | CA344037515 | CRB1 | c.2462C>A (p.Thr821Lys) c.1343C>A (p.Thr448Lys) c.605C>A (p.Thr202Lys) c.2126C>A (p.Thr709Lys) n.363C>A c.2255C>A (p.Thr752Lys) c.2128+5831C>A (n.2128+5831C>A) n.2463C>A n.2671C>A c.1880C>A (p.Thr627Lys) c.905C>A (p.Thr302Lys) c.1619C>A (p.Thr540Lys) n.2415C>A n.2623C>A | gnomAD v4 |
1 | g.197427787C= | CA1141893786 | CRB1 | c.2462C= (p.Thr821=) c.1343C= (p.Thr448=) c.605C= (p.Thr202=) c.2126C= (p.Thr709=) n.363C= c.2255C= (p.Thr752=) c.2128+5831C= (n.2128+5831C=) n.2463C= n.2671C= c.1880C= (p.Thr627=) c.905C= (p.Thr302=) c.1619C= (p.Thr540=) n.2415C= n.2623C= | |
1 | g.197427787C>G | CA344037518 | CRB1 | c.2462C>G (p.Thr821Arg) c.1343C>G (p.Thr448Arg) c.605C>G (p.Thr202Arg) c.2126C>G (p.Thr709Arg) n.363C>G c.2255C>G (p.Thr752Arg) c.2128+5831C>G (n.2128+5831C>G) n.2463C>G n.2671C>G c.1880C>G (p.Thr627Arg) c.905C>G (p.Thr302Arg) c.1619C>G (p.Thr540Arg) n.2415C>G n.2623C>G | ClinVar dbSNP |
1 | g.197427787C>T | CA247395 | CRB1 | c.2462C>T (p.Thr821Met) c.1343C>T (p.Thr448Met) c.605C>T (p.Thr202Met) c.2126C>T (p.Thr709Met) n.363C>T c.2255C>T (p.Thr752Met) c.2128+5831C>T (n.2128+5831C>T) n.2463C>T n.2671C>T c.1880C>T (p.Thr627Met) c.905C>T (p.Thr302Met) c.1619C>T (p.Thr540Met) n.2415C>T n.2623C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427788G>A | CA1312123 | CRB1 | c.2463G>A (p.Thr821=) c.1344G>A (p.Thr448=) c.606G>A (p.Thr202=) c.2127G>A (p.Thr709=) n.364G>A c.2256G>A (p.Thr752=) c.2128+5832G>A (n.2128+5832G>A) n.2464G>A n.2672G>A c.1881G>A (p.Thr627=) c.906G>A (p.Thr302=) c.1620G>A (p.Thr540=) n.2416G>A n.2624G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197427788G>C | CA422808785 | CRB1 | c.2463G>C (p.Thr821=) c.1344G>C (p.Thr448=) c.606G>C (p.Thr202=) c.2127G>C (p.Thr709=) n.364G>C c.2256G>C (p.Thr752=) c.2128+5832G>C (n.2128+5832G>C) n.2464G>C n.2672G>C c.1881G>C (p.Thr627=) c.906G>C (p.Thr302=) c.1620G>C (p.Thr540=) n.2416G>C n.2624G>C | gnomAD v4 |
1 | g.197427788G= | CA1144049097 | CRB1 | c.2463G= (p.Thr821=) c.1344G= (p.Thr448=) c.606G= (p.Thr202=) c.2127G= (p.Thr709=) n.364G= c.2256G= (p.Thr752=) c.2128+5832G= (n.2128+5832G=) n.2464G= n.2672G= c.1881G= (p.Thr627=) c.906G= (p.Thr302=) c.1620G= (p.Thr540=) n.2416G= n.2624G= | |
1 | g.197427788G>T | CA422808786 | CRB1 | c.2463G>T (p.Thr821=) c.1344G>T (p.Thr448=) c.606G>T (p.Thr202=) c.2127G>T (p.Thr709=) n.364G>T c.2256G>T (p.Thr752=) c.2128+5832G>T (n.2128+5832G>T) n.2464G>T n.2672G>T c.1881G>T (p.Thr627=) c.906G>T (p.Thr302=) c.1620G>T (p.Thr540=) n.2416G>T n.2624G>T | |
1 | g.197427789T>A | CA344037527 | CRB1 | c.2464T>A (p.Trp822Arg) c.1345T>A (p.Trp449Arg) c.607T>A (p.Trp203Arg) c.2128T>A (p.Trp710Arg) n.365T>A c.2257T>A (p.Trp753Arg) c.2128+5833T>A (n.2128+5833T>A) n.2465T>A n.2673T>A c.1882T>A (p.Trp628Arg) c.907T>A (p.Trp303Arg) c.1621T>A (p.Trp541Arg) n.2417T>A n.2625T>A | |
1 | g.197427789T>C | CA344037529 | CRB1 | c.2464T>C (p.Trp822Arg) c.1345T>C (p.Trp449Arg) c.607T>C (p.Trp203Arg) c.2128T>C (p.Trp710Arg) n.365T>C c.2257T>C (p.Trp753Arg) c.2128+5833T>C (n.2128+5833T>C) n.2465T>C n.2673T>C c.1882T>C (p.Trp628Arg) c.907T>C (p.Trp303Arg) c.1621T>C (p.Trp541Arg) n.2417T>C n.2625T>C | |
1 | g.197427789T>G | CA344037531 | CRB1 | c.2464T>G (p.Trp822Gly) c.1345T>G (p.Trp449Gly) c.607T>G (p.Trp203Gly) c.2128T>G (p.Trp710Gly) n.365T>G c.2257T>G (p.Trp753Gly) c.2128+5833T>G (n.2128+5833T>G) n.2465T>G n.2673T>G c.1882T>G (p.Trp628Gly) c.907T>G (p.Trp303Gly) c.1621T>G (p.Trp541Gly) n.2417T>G n.2625T>G | |
1 | g.197427790G>A | CA344037535 | CRB1 | c.2465G>A (p.Trp822Ter) c.1346G>A (p.Trp449Ter) c.608G>A (p.Trp203Ter) c.2129G>A (p.Trp710Ter) n.366G>A c.2258G>A (p.Trp753Ter) c.2128+5834G>A (n.2128+5834G>A) n.2466G>A n.2674G>A c.1883G>A (p.Trp628Ter) c.908G>A (p.Trp303Ter) c.1622G>A (p.Trp541Ter) n.2418G>A n.2626G>A | COSMIC COSMIC |
1 | g.197427790G>C | CA344037539 | CRB1 | c.2465G>C (p.Trp822Ser) c.1346G>C (p.Trp449Ser) c.608G>C (p.Trp203Ser) c.2129G>C (p.Trp710Ser) n.366G>C c.2258G>C (p.Trp753Ser) c.2128+5834G>C (n.2128+5834G>C) n.2466G>C n.2674G>C c.1883G>C (p.Trp628Ser) c.908G>C (p.Trp303Ser) c.1622G>C (p.Trp541Ser) n.2418G>C n.2626G>C | |
1 | g.197427790G>T | CA344037543 | CRB1 | c.2465G>T (p.Trp822Leu) c.1346G>T (p.Trp449Leu) c.608G>T (p.Trp203Leu) c.2129G>T (p.Trp710Leu) n.366G>T c.2258G>T (p.Trp753Leu) c.2128+5834G>T (n.2128+5834G>T) n.2466G>T n.2674G>T c.1883G>T (p.Trp628Leu) c.908G>T (p.Trp303Leu) c.1622G>T (p.Trp541Leu) n.2418G>T n.2626G>T | |
1 | g.197427791G>A | CA344037547 | CRB1 | c.2466G>A (p.Trp822Ter) c.1347G>A (p.Trp449Ter) c.609G>A (p.Trp203Ter) c.2130G>A (p.Trp710Ter) n.367G>A c.2259G>A (p.Trp753Ter) c.2128+5835G>A (n.2128+5835G>A) n.2467G>A n.2675G>A c.1884G>A (p.Trp628Ter) c.909G>A (p.Trp303Ter) c.1623G>A (p.Trp541Ter) n.2419G>A n.2627G>A | ClinVar dbSNP COSMIC COSMIC |
1 | g.197427791G>C | CA344037550 | CRB1 | c.2466G>C (p.Trp822Cys) c.1347G>C (p.Trp449Cys) c.609G>C (p.Trp203Cys) c.2130G>C (p.Trp710Cys) n.367G>C c.2259G>C (p.Trp753Cys) c.2128+5835G>C (n.2128+5835G>C) n.2467G>C n.2675G>C c.1884G>C (p.Trp628Cys) c.909G>C (p.Trp303Cys) c.1623G>C (p.Trp541Cys) n.2419G>C n.2627G>C | |
1 | g.197427791G= | CA1218066276 | CRB1 | c.2466G= (p.Trp822=) c.1347G= (p.Trp449=) c.609G= (p.Trp203=) c.2130G= (p.Trp710=) n.367G= c.2259G= (p.Trp753=) c.2128+5835G= (n.2128+5835G=) n.2467G= n.2675G= c.1884G= (p.Trp628=) c.909G= (p.Trp303=) c.1623G= (p.Trp541=) n.2419G= n.2627G= | |
1 | g.197427791G>T | CA344037551 | CRB1 | c.2466G>T (p.Trp822Cys) c.1347G>T (p.Trp449Cys) c.609G>T (p.Trp203Cys) c.2130G>T (p.Trp710Cys) n.367G>T c.2259G>T (p.Trp753Cys) c.2128+5835G>T (n.2128+5835G>T) n.2467G>T n.2675G>T c.1884G>T (p.Trp628Cys) c.909G>T (p.Trp303Cys) c.1623G>T (p.Trp541Cys) n.2419G>T n.2627G>T | |
1 | g.197427792A= | CA1218066279 | CRB1 | c.2467A= (p.Lys823=) c.1348A= (p.Lys450=) c.610A= (p.Lys204=) c.2131A= (p.Lys711=) n.368A= c.2260A= (p.Lys754=) c.2128+5836A= (n.2128+5836A=) n.2468A= n.2676A= c.1885A= (p.Lys629=) c.910A= (p.Lys304=) c.1624A= (p.Lys542=) n.2420A= n.2628A= | |
1 | g.197427792A>C | CA344037556 | CRB1 | c.2467A>C (p.Lys823Gln) c.1348A>C (p.Lys450Gln) c.610A>C (p.Lys204Gln) c.2131A>C (p.Lys711Gln) n.368A>C c.2260A>C (p.Lys754Gln) c.2128+5836A>C (n.2128+5836A>C) n.2468A>C n.2676A>C c.1885A>C (p.Lys629Gln) c.910A>C (p.Lys304Gln) c.1624A>C (p.Lys542Gln) n.2420A>C n.2628A>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427792A>G | CA344037562 | CRB1 | c.2467A>G (p.Lys823Glu) c.1348A>G (p.Lys450Glu) c.610A>G (p.Lys204Glu) c.2131A>G (p.Lys711Glu) n.368A>G c.2260A>G (p.Lys754Glu) c.2128+5836A>G (n.2128+5836A>G) n.2468A>G n.2676A>G c.1885A>G (p.Lys629Glu) c.910A>G (p.Lys304Glu) c.1624A>G (p.Lys542Glu) n.2420A>G n.2628A>G | |
1 | g.197427792A>T | CA344037558 | CRB1 | c.2467A>T (p.Lys823Ter) c.1348A>T (p.Lys450Ter) c.610A>T (p.Lys204Ter) c.2131A>T (p.Lys711Ter) n.368A>T c.2260A>T (p.Lys754Ter) c.2128+5836A>T (n.2128+5836A>T) n.2468A>T n.2676A>T c.1885A>T (p.Lys629Ter) c.910A>T (p.Lys304Ter) c.1624A>T (p.Lys542Ter) n.2420A>T n.2628A>T | |
1 | g.197427793A>C | CA344037566 | CRB1 | c.2468A>C (p.Lys823Thr) c.1349A>C (p.Lys450Thr) c.611A>C (p.Lys204Thr) c.2132A>C (p.Lys711Thr) n.369A>C c.2261A>C (p.Lys754Thr) c.2128+5837A>C (n.2128+5837A>C) n.2469A>C n.2677A>C c.1886A>C (p.Lys629Thr) c.911A>C (p.Lys304Thr) c.1625A>C (p.Lys542Thr) n.2421A>C n.2629A>C | |
1 | g.197427793A>G | CA344037575 | CRB1 | c.2468A>G (p.Lys823Arg) c.1349A>G (p.Lys450Arg) c.611A>G (p.Lys204Arg) c.2132A>G (p.Lys711Arg) n.369A>G c.2261A>G (p.Lys754Arg) c.2128+5837A>G (n.2128+5837A>G) n.2469A>G n.2677A>G c.1886A>G (p.Lys629Arg) c.911A>G (p.Lys304Arg) c.1625A>G (p.Lys542Arg) n.2421A>G n.2629A>G | |
1 | g.197427793A>T | CA344037579 | CRB1 | c.2468A>T (p.Lys823Ile) c.1349A>T (p.Lys450Ile) c.611A>T (p.Lys204Ile) c.2132A>T (p.Lys711Ile) n.369A>T c.2261A>T (p.Lys754Ile) c.2128+5837A>T (n.2128+5837A>T) n.2469A>T n.2677A>T c.1886A>T (p.Lys629Ile) c.911A>T (p.Lys304Ile) c.1625A>T (p.Lys542Ile) n.2421A>T n.2629A>T | |
1 | g.197427794A>C | CA344037582 | CRB1 | c.2469A>C (p.Lys823Asn) c.1350A>C (p.Lys450Asn) c.612A>C (p.Lys204Asn) c.2133A>C (p.Lys711Asn) n.370A>C c.2262A>C (p.Lys754Asn) c.2128+5838A>C (n.2128+5838A>C) n.2470A>C n.2678A>C c.1887A>C (p.Lys629Asn) c.912A>C (p.Lys304Asn) c.1626A>C (p.Lys542Asn) n.2422A>C n.2630A>C | |
1 | g.197427794A>G | CA422808790 | CRB1 | c.2469A>G (p.Lys823=) c.1350A>G (p.Lys450=) c.612A>G (p.Lys204=) c.2133A>G (p.Lys711=) n.370A>G c.2262A>G (p.Lys754=) c.2128+5838A>G (n.2128+5838A>G) n.2470A>G n.2678A>G c.1887A>G (p.Lys629=) c.912A>G (p.Lys304=) c.1626A>G (p.Lys542=) n.2422A>G n.2630A>G | |
1 | g.197427794A>T | CA344037585 | CRB1 | c.2469A>T (p.Lys823Asn) c.1350A>T (p.Lys450Asn) c.612A>T (p.Lys204Asn) c.2133A>T (p.Lys711Asn) n.370A>T c.2262A>T (p.Lys754Asn) c.2128+5838A>T (n.2128+5838A>T) n.2470A>T n.2678A>T c.1887A>T (p.Lys629Asn) c.912A>T (p.Lys304Asn) c.1626A>T (p.Lys542Asn) n.2422A>T n.2630A>T | |
1 | g.197427795A>C | CA344037588 | CRB1 | c.2470A>C (p.Ile824Leu) c.1351A>C (p.Ile451Leu) c.613A>C (p.Ile205Leu) c.2134A>C (p.Ile712Leu) n.371A>C c.2263A>C (p.Ile755Leu) c.2128+5839A>C (n.2128+5839A>C) n.2471A>C n.2679A>C c.1888A>C (p.Ile630Leu) c.913A>C (p.Ile305Leu) c.1627A>C (p.Ile543Leu) n.2423A>C n.2631A>C | |
1 | g.197427795A>G | CA344037591 | CRB1 | c.2470A>G (p.Ile824Val) c.1351A>G (p.Ile451Val) c.613A>G (p.Ile205Val) c.2134A>G (p.Ile712Val) n.371A>G c.2263A>G (p.Ile755Val) c.2128+5839A>G (n.2128+5839A>G) n.2471A>G n.2679A>G c.1888A>G (p.Ile630Val) c.913A>G (p.Ile305Val) c.1627A>G (p.Ile543Val) n.2423A>G n.2631A>G | |
1 | g.197427795A>T | CA344037595 | CRB1 | c.2470A>T (p.Ile824Phe) c.1351A>T (p.Ile451Phe) c.613A>T (p.Ile205Phe) c.2134A>T (p.Ile712Phe) n.371A>T c.2263A>T (p.Ile755Phe) c.2128+5839A>T (n.2128+5839A>T) n.2471A>T n.2679A>T c.1888A>T (p.Ile630Phe) c.913A>T (p.Ile305Phe) c.1627A>T (p.Ile543Phe) n.2423A>T n.2631A>T | |
1 | g.197427796T>A | CA344037599 | CRB1 | c.2471T>A (p.Ile824Asn) c.1352T>A (p.Ile451Asn) c.614T>A (p.Ile205Asn) c.2135T>A (p.Ile712Asn) n.372T>A c.2264T>A (p.Ile755Asn) c.2128+5840T>A (n.2128+5840T>A) n.2472T>A n.2680T>A c.1889T>A (p.Ile630Asn) c.914T>A (p.Ile305Asn) c.1628T>A (p.Ile543Asn) n.2424T>A n.2632T>A | |
1 | g.197427796T>C | CA344037603 | CRB1 | c.2471T>C (p.Ile824Thr) c.1352T>C (p.Ile451Thr) c.614T>C (p.Ile205Thr) c.2135T>C (p.Ile712Thr) n.372T>C c.2264T>C (p.Ile755Thr) c.2128+5840T>C (n.2128+5840T>C) n.2472T>C n.2680T>C c.1889T>C (p.Ile630Thr) c.914T>C (p.Ile305Thr) c.1628T>C (p.Ile543Thr) n.2424T>C n.2632T>C | |
1 | g.197427796T>G | CA344037605 | CRB1 | c.2471T>G (p.Ile824Ser) c.1352T>G (p.Ile451Ser) c.614T>G (p.Ile205Ser) c.2135T>G (p.Ile712Ser) n.372T>G c.2264T>G (p.Ile755Ser) c.2128+5840T>G (n.2128+5840T>G) n.2472T>G n.2680T>G c.1889T>G (p.Ile630Ser) c.914T>G (p.Ile305Ser) c.1628T>G (p.Ile543Ser) n.2424T>G n.2632T>G | |
1 | g.197427797C>A | CA422808797 | CRB1 | c.2472C>A (p.Ile824=) c.1353C>A (p.Ile451=) c.615C>A (p.Ile205=) c.2136C>A (p.Ile712=) n.373C>A c.2265C>A (p.Ile755=) c.2128+5841C>A (n.2128+5841C>A) n.2473C>A n.2681C>A c.1890C>A (p.Ile630=) c.915C>A (p.Ile305=) c.1629C>A (p.Ile543=) n.2425C>A n.2633C>A | |
1 | g.197427797C= | CA1218066281 | CRB1 | c.2472C= (p.Ile824=) c.1353C= (p.Ile451=) c.615C= (p.Ile205=) c.2136C= (p.Ile712=) n.373C= c.2265C= (p.Ile755=) c.2128+5841C= (n.2128+5841C=) n.2473C= n.2681C= c.1890C= (p.Ile630=) c.915C= (p.Ile305=) c.1629C= (p.Ile543=) n.2425C= n.2633C= | |
1 | g.197427797C>G | CA344037609 | CRB1 | c.2472C>G (p.Ile824Met) c.1353C>G (p.Ile451Met) c.615C>G (p.Ile205Met) c.2136C>G (p.Ile712Met) n.373C>G c.2265C>G (p.Ile755Met) c.2128+5841C>G (n.2128+5841C>G) n.2473C>G n.2681C>G c.1890C>G (p.Ile630Met) c.915C>G (p.Ile305Met) c.1629C>G (p.Ile543Met) n.2425C>G n.2633C>G | COSMIC |
1 | g.197427797C>T | CA1312124 | CRB1 | c.2472C>T (p.Ile824=) c.1353C>T (p.Ile451=) c.615C>T (p.Ile205=) c.2136C>T (p.Ile712=) n.373C>T c.2265C>T (p.Ile755=) c.2128+5841C>T (n.2128+5841C>T) n.2473C>T n.2681C>T c.1890C>T (p.Ile630=) c.915C>T (p.Ile305=) c.1629C>T (p.Ile543=) n.2425C>T n.2633C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |