| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197427631_197427632delinsAG | CA2586964520 | CRB1 | c.2306_2307delinsAG (p.Arg769Gln) c.1187_1188delinsAG (p.Arg396Gln) c.449_450delinsAG (p.Arg150Gln) c.1970_1971delinsAG (p.Arg657Gln) n.207_208delinsAG c.2099_2100delinsAG (p.Arg700Gln) c.2128+5675_2128+5676delinsAG (n.2128+5675_2128+5676delinsAG) n.2307_2308delinsAG n.2515_2516delinsAG c.1724_1725delinsAG (p.Arg575Gln) c.749_750delinsAG (p.Arg250Gln) c.1463_1464delinsAG (p.Arg488Gln) n.2259_2260delinsAG n.2467_2468delinsAG | |
| 1 | g.197427632C>A | CA1312097 | CRB1 | c.2307C>A (p.Arg769=) c.1188C>A (p.Arg396=) c.450C>A (p.Arg150=) c.1971C>A (p.Arg657=) n.208C>A c.2100C>A (p.Arg700=) c.2128+5676C>A (n.2128+5676C>A) n.2308C>A n.2516C>A c.1725C>A (p.Arg575=) c.750C>A (p.Arg250=) c.1464C>A (p.Arg488=) n.2260C>A n.2468C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197427632C= | CA1142406312 | CRB1 | c.2307C= (p.Arg769=) c.1188C= (p.Arg396=) c.450C= (p.Arg150=) c.1971C= (p.Arg657=) n.208C= c.2100C= (p.Arg700=) c.2128+5676C= (n.2128+5676C=) n.2308C= n.2516C= c.1725C= (p.Arg575=) c.750C= (p.Arg250=) c.1464C= (p.Arg488=) n.2260C= n.2468C= | |
| 1 | g.197427632C>G | CA422809093 | CRB1 | c.2307C>G (p.Arg769=) c.1188C>G (p.Arg396=) c.450C>G (p.Arg150=) c.1971C>G (p.Arg657=) n.208C>G c.2100C>G (p.Arg700=) c.2128+5676C>G (n.2128+5676C>G) n.2308C>G n.2516C>G c.1725C>G (p.Arg575=) c.750C>G (p.Arg250=) c.1464C>G (p.Arg488=) n.2260C>G n.2468C>G | ClinVar |
| 1 | g.197427632C>T | CA1312096 | CRB1 | c.2307C>T (p.Arg769=) c.1188C>T (p.Arg396=) c.450C>T (p.Arg150=) c.1971C>T (p.Arg657=) n.208C>T c.2100C>T (p.Arg700=) c.2128+5676C>T (n.2128+5676C>T) n.2308C>T n.2516C>T c.1725C>T (p.Arg575=) c.750C>T (p.Arg250=) c.1464C>T (p.Arg488=) n.2260C>T n.2468C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197427633G>A | CA1312098 | CRB1 | c.2308G>A (p.Gly770Ser) c.1189G>A (p.Gly397Ser) c.451G>A (p.Gly151Ser) c.1972G>A (p.Gly658Ser) n.209G>A c.2101G>A (p.Gly701Ser) c.2128+5677G>A (n.2128+5677G>A) n.2309G>A n.2517G>A c.1726G>A (p.Gly576Ser) c.751G>A (p.Gly251Ser) c.1465G>A (p.Gly489Ser) n.2261G>A n.2469G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.197427633G>C | CA344036943 | CRB1 | c.2308G>C (p.Gly770Arg) c.1189G>C (p.Gly397Arg) c.451G>C (p.Gly151Arg) c.1972G>C (p.Gly658Arg) n.209G>C c.2101G>C (p.Gly701Arg) c.2128+5677G>C (n.2128+5677G>C) n.2309G>C n.2517G>C c.1726G>C (p.Gly576Arg) c.751G>C (p.Gly251Arg) c.1465G>C (p.Gly489Arg) n.2261G>C n.2469G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197427633G= | CA1218066108 | CRB1 | c.2308G= (p.Gly770=) c.1189G= (p.Gly397=) c.451G= (p.Gly151=) c.1972G= (p.Gly658=) n.209G= c.2101G= (p.Gly701=) c.2128+5677G= (n.2128+5677G=) n.2309G= n.2517G= c.1726G= (p.Gly576=) c.751G= (p.Gly251=) c.1465G= (p.Gly489=) n.2261G= n.2469G= | |
| 1 | g.197427633G>T | CA344036944 | CRB1 | c.2308G>T (p.Gly770Cys) c.1189G>T (p.Gly397Cys) c.451G>T (p.Gly151Cys) c.1972G>T (p.Gly658Cys) n.209G>T c.2101G>T (p.Gly701Cys) c.2128+5677G>T (n.2128+5677G>T) n.2309G>T n.2517G>T c.1726G>T (p.Gly576Cys) c.751G>T (p.Gly251Cys) c.1465G>T (p.Gly489Cys) n.2261G>T n.2469G>T | |
| 1 | g.197427634dup | CA2649670116 | CRB1 | c.2309dup (p.Arg771GlnfsTer19) c.1190dup (p.Arg398GlnfsTer19) c.452dup (p.Arg152GlnfsTer19) c.1973dup (p.Arg659GlnfsTer19) n.210dup c.2102dup (p.Arg702GlnfsTer19) c.2128+5678dup (n.2128+5678dup) n.2310dup n.2518dup c.1727dup (p.Arg577GlnfsTer19) c.752dup (p.Arg252GlnfsTer19) c.1466dup (p.Arg490GlnfsTer19) n.2262dup n.2470dup | gnomAD v4 |
| 1 | g.197427634G>A | CA10581628 | CRB1 | c.2309G>A (p.Gly770Asp) c.1190G>A (p.Gly397Asp) c.452G>A (p.Gly151Asp) c.1973G>A (p.Gly658Asp) n.210G>A c.2102G>A (p.Gly701Asp) c.2128+5678G>A (n.2128+5678G>A) n.2310G>A n.2518G>A c.1727G>A (p.Gly576Asp) c.752G>A (p.Gly251Asp) c.1466G>A (p.Gly489Asp) n.2262G>A n.2470G>A | ClinVar dbSNP |
| 1 | g.197427634G>C | CA344036945 | CRB1 | c.2309G>C (p.Gly770Ala) c.1190G>C (p.Gly397Ala) c.452G>C (p.Gly151Ala) c.1973G>C (p.Gly658Ala) n.210G>C c.2102G>C (p.Gly701Ala) c.2128+5678G>C (n.2128+5678G>C) n.2310G>C n.2518G>C c.1727G>C (p.Gly576Ala) c.752G>C (p.Gly251Ala) c.1466G>C (p.Gly489Ala) n.2262G>C n.2470G>C | COSMIC |
| 1 | g.197427634G= | CA1218066114 | CRB1 | c.2309G= (p.Gly770=) c.1190G= (p.Gly397=) c.452G= (p.Gly151=) c.1973G= (p.Gly658=) n.210G= c.2102G= (p.Gly701=) c.2128+5678G= (n.2128+5678G=) n.2310G= n.2518G= c.1727G= (p.Gly576=) c.752G= (p.Gly251=) c.1466G= (p.Gly489=) n.2262G= n.2470G= | |
| 1 | g.197427634G>T | CA344036946 | CRB1 | c.2309G>T (p.Gly770Val) c.1190G>T (p.Gly397Val) c.452G>T (p.Gly151Val) c.1973G>T (p.Gly658Val) n.210G>T c.2102G>T (p.Gly701Val) c.2128+5678G>T (n.2128+5678G>T) n.2310G>T n.2518G>T c.1727G>T (p.Gly576Val) c.752G>T (p.Gly251Val) c.1466G>T (p.Gly489Val) n.2262G>T n.2470G>T | |
| 1 | g.197427635C>A | CA422809097 | CRB1 | c.2310C>A (p.Gly770=) c.1191C>A (p.Gly397=) c.453C>A (p.Gly151=) c.1974C>A (p.Gly658=) n.211C>A c.2103C>A (p.Gly701=) c.2128+5679C>A (n.2128+5679C>A) n.2311C>A n.2519C>A c.1728C>A (p.Gly576=) c.753C>A (p.Gly251=) c.1467C>A (p.Gly489=) n.2263C>A n.2471C>A | |
| 1 | g.197427635C>G | CA422809099 | CRB1 | c.2310C>G (p.Gly770=) c.1191C>G (p.Gly397=) c.453C>G (p.Gly151=) c.1974C>G (p.Gly658=) n.211C>G c.2103C>G (p.Gly701=) c.2128+5679C>G (n.2128+5679C>G) n.2311C>G n.2519C>G c.1728C>G (p.Gly576=) c.753C>G (p.Gly251=) c.1467C>G (p.Gly489=) n.2263C>G n.2471C>G | |
| 1 | g.197427635C>T | CA422809100 | CRB1 | c.2310C>T (p.Gly770=) c.1191C>T (p.Gly397=) c.453C>T (p.Gly151=) c.1974C>T (p.Gly658=) n.211C>T c.2103C>T (p.Gly701=) c.2128+5679C>T (n.2128+5679C>T) n.2311C>T n.2519C>T c.1728C>T (p.Gly576=) c.753C>T (p.Gly251=) c.1467C>T (p.Gly489=) n.2263C>T n.2471C>T | |
| 1 | g.197427636A= | CA1143640397 | CRB1 | c.2311A= (p.Arg771=) c.1192A= (p.Arg398=) c.454A= (p.Arg152=) c.1975A= (p.Arg659=) n.212A= c.2104A= (p.Arg702=) c.2128+5680A= (n.2128+5680A=) n.2312A= n.2520A= c.1729A= (p.Arg577=) c.754A= (p.Arg252=) c.1468A= (p.Arg490=) n.2264A= n.2472A= | |
| 1 | g.197427636A>C | CA422809101 | CRB1 | c.2311A>C (p.Arg771=) c.1192A>C (p.Arg398=) c.454A>C (p.Arg152=) c.1975A>C (p.Arg659=) n.212A>C c.2104A>C (p.Arg702=) c.2128+5680A>C (n.2128+5680A>C) n.2312A>C n.2520A>C c.1729A>C (p.Arg577=) c.754A>C (p.Arg252=) c.1468A>C (p.Arg490=) n.2264A>C n.2472A>C | |
| 1 | g.197427636A>G | CA1312099 | CRB1 | c.2311A>G (p.Arg771Gly) c.1192A>G (p.Arg398Gly) c.454A>G (p.Arg152Gly) c.1975A>G (p.Arg659Gly) n.212A>G c.2104A>G (p.Arg702Gly) c.2128+5680A>G (n.2128+5680A>G) n.2312A>G n.2520A>G c.1729A>G (p.Arg577Gly) c.754A>G (p.Arg252Gly) c.1468A>G (p.Arg490Gly) n.2264A>G n.2472A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197427636A>T | CA344036947 | CRB1 | c.2311A>T (p.Arg771Ter) c.1192A>T (p.Arg398Ter) c.454A>T (p.Arg152Ter) c.1975A>T (p.Arg659Ter) n.212A>T c.2104A>T (p.Arg702Ter) c.2128+5680A>T (n.2128+5680A>T) n.2312A>T n.2520A>T c.1729A>T (p.Arg577Ter) c.754A>T (p.Arg252Ter) c.1468A>T (p.Arg490Ter) n.2264A>T n.2472A>T | |
| 1 | g.197427637G>A | CA344036948 | CRB1 | c.2312G>A (p.Arg771Lys) c.1193G>A (p.Arg398Lys) c.455G>A (p.Arg152Lys) c.1976G>A (p.Arg659Lys) n.213G>A c.2105G>A (p.Arg702Lys) c.2128+5681G>A (n.2128+5681G>A) n.2313G>A n.2521G>A c.1730G>A (p.Arg577Lys) c.755G>A (p.Arg252Lys) c.1469G>A (p.Arg490Lys) n.2265G>A n.2473G>A | |
| 1 | g.197427637G>C | CA344036949 | CRB1 | c.2312G>C (p.Arg771Thr) c.1193G>C (p.Arg398Thr) c.455G>C (p.Arg152Thr) c.1976G>C (p.Arg659Thr) n.213G>C c.2105G>C (p.Arg702Thr) c.2128+5681G>C (n.2128+5681G>C) n.2313G>C n.2521G>C c.1730G>C (p.Arg577Thr) c.755G>C (p.Arg252Thr) c.1469G>C (p.Arg490Thr) n.2265G>C n.2473G>C | |
| 1 | g.197427637G>T | CA344036950 | CRB1 | c.2312G>T (p.Arg771Ile) c.1193G>T (p.Arg398Ile) c.455G>T (p.Arg152Ile) c.1976G>T (p.Arg659Ile) n.213G>T c.2105G>T (p.Arg702Ile) c.2128+5681G>T (n.2128+5681G>T) n.2313G>T n.2521G>T c.1730G>T (p.Arg577Ile) c.755G>T (p.Arg252Ile) c.1469G>T (p.Arg490Ile) n.2265G>T n.2473G>T | |
| 1 | g.197427638A>C | CA344036951 | CRB1 | c.2313A>C (p.Arg771Ser) c.1194A>C (p.Arg398Ser) c.456A>C (p.Arg152Ser) c.1977A>C (p.Arg659Ser) n.214A>C c.2106A>C (p.Arg702Ser) c.2128+5682A>C (n.2128+5682A>C) n.2314A>C n.2522A>C c.1731A>C (p.Arg577Ser) c.756A>C (p.Arg252Ser) c.1470A>C (p.Arg490Ser) n.2266A>C n.2474A>C | |
| 1 | g.197427638A>G | CA422809107 | CRB1 | c.2313A>G (p.Arg771=) c.1194A>G (p.Arg398=) c.456A>G (p.Arg152=) c.1977A>G (p.Arg659=) n.214A>G c.2106A>G (p.Arg702=) c.2128+5682A>G (n.2128+5682A>G) n.2314A>G n.2522A>G c.1731A>G (p.Arg577=) c.756A>G (p.Arg252=) c.1470A>G (p.Arg490=) n.2266A>G n.2474A>G | |
| 1 | g.197427638A>T | CA344036952 | CRB1 | c.2313A>T (p.Arg771Ser) c.1194A>T (p.Arg398Ser) c.456A>T (p.Arg152Ser) c.1977A>T (p.Arg659Ser) n.214A>T c.2106A>T (p.Arg702Ser) c.2128+5682A>T (n.2128+5682A>T) n.2314A>T n.2522A>T c.1731A>T (p.Arg577Ser) c.756A>T (p.Arg252Ser) c.1470A>T (p.Arg490Ser) n.2266A>T n.2474A>T | |
| 1 | g.197427639C>A | CA1312100 | CRB1 | c.2314C>A (p.Leu772Ile) c.1195C>A (p.Leu399Ile) c.457C>A (p.Leu153Ile) c.1978C>A (p.Leu660Ile) n.215C>A c.2107C>A (p.Leu703Ile) c.2128+5683C>A (n.2128+5683C>A) n.2315C>A n.2523C>A c.1732C>A (p.Leu578Ile) c.757C>A (p.Leu253Ile) c.1471C>A (p.Leu491Ile) n.2267C>A n.2475C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427639C= | CA1218066119 | CRB1 | c.2314C= (p.Leu772=) c.1195C= (p.Leu399=) c.457C= (p.Leu153=) c.1978C= (p.Leu660=) n.215C= c.2107C= (p.Leu703=) c.2128+5683C= (n.2128+5683C=) n.2315C= n.2523C= c.1732C= (p.Leu578=) c.757C= (p.Leu253=) c.1471C= (p.Leu491=) n.2267C= n.2475C= | |
| 1 | g.197427639C>G | CA344036953 | CRB1 | c.2314C>G (p.Leu772Val) c.1195C>G (p.Leu399Val) c.457C>G (p.Leu153Val) c.1978C>G (p.Leu660Val) n.215C>G c.2107C>G (p.Leu703Val) c.2128+5683C>G (n.2128+5683C>G) n.2315C>G n.2523C>G c.1732C>G (p.Leu578Val) c.757C>G (p.Leu253Val) c.1471C>G (p.Leu491Val) n.2267C>G n.2475C>G | COSMIC COSMIC |
| 1 | g.197427639C>T | CA422809111 | CRB1 | c.2314C>T (p.Leu772=) c.1195C>T (p.Leu399=) c.457C>T (p.Leu153=) c.1978C>T (p.Leu660=) n.215C>T c.2107C>T (p.Leu703=) c.2128+5683C>T (n.2128+5683C>T) n.2315C>T n.2523C>T c.1732C>T (p.Leu578=) c.757C>T (p.Leu253=) c.1471C>T (p.Leu491=) n.2267C>T n.2475C>T | |
| 1 | g.197427640T>A | CA344036954 | CRB1 | c.2315T>A (p.Leu772Gln) c.1196T>A (p.Leu399Gln) c.458T>A (p.Leu153Gln) c.1979T>A (p.Leu660Gln) n.216T>A c.2108T>A (p.Leu703Gln) c.2128+5684T>A (n.2128+5684T>A) n.2316T>A n.2524T>A c.1733T>A (p.Leu578Gln) c.758T>A (p.Leu253Gln) c.1472T>A (p.Leu491Gln) n.2268T>A n.2476T>A | |
| 1 | g.197427640T>C | CA344036955 | CRB1 | c.2315T>C (p.Leu772Pro) c.1196T>C (p.Leu399Pro) c.458T>C (p.Leu153Pro) c.1979T>C (p.Leu660Pro) n.216T>C c.2108T>C (p.Leu703Pro) c.2128+5684T>C (n.2128+5684T>C) n.2316T>C n.2524T>C c.1733T>C (p.Leu578Pro) c.758T>C (p.Leu253Pro) c.1472T>C (p.Leu491Pro) n.2268T>C n.2476T>C | |
| 1 | g.197427640T>G | CA344036956 | CRB1 | c.2315T>G (p.Leu772Arg) c.1196T>G (p.Leu399Arg) c.458T>G (p.Leu153Arg) c.1979T>G (p.Leu660Arg) n.216T>G c.2108T>G (p.Leu703Arg) c.2128+5684T>G (n.2128+5684T>G) n.2316T>G n.2524T>G c.1733T>G (p.Leu578Arg) c.758T>G (p.Leu253Arg) c.1472T>G (p.Leu491Arg) n.2268T>G n.2476T>G | |
| 1 | g.197427641A= | CA1218066122 | CRB1 | c.2316A= (p.Leu772=) c.1197A= (p.Leu399=) c.459A= (p.Leu153=) c.1980A= (p.Leu660=) n.217A= c.2109A= (p.Leu703=) c.2128+5685A= (n.2128+5685A=) n.2317A= n.2525A= c.1734A= (p.Leu578=) c.759A= (p.Leu253=) c.1473A= (p.Leu491=) n.2269A= n.2477A= | |
| 1 | g.197427641A>C | CA422809119 | CRB1 | c.2316A>C (p.Leu772=) c.1197A>C (p.Leu399=) c.459A>C (p.Leu153=) c.1980A>C (p.Leu660=) n.217A>C c.2109A>C (p.Leu703=) c.2128+5685A>C (n.2128+5685A>C) n.2317A>C n.2525A>C c.1734A>C (p.Leu578=) c.759A>C (p.Leu253=) c.1473A>C (p.Leu491=) n.2269A>C n.2477A>C | |
| 1 | g.197427641A>G | CA35900609 | CRB1 | c.2316A>G (p.Leu772=) c.1197A>G (p.Leu399=) c.459A>G (p.Leu153=) c.1980A>G (p.Leu660=) n.217A>G c.2109A>G (p.Leu703=) c.2128+5685A>G (n.2128+5685A>G) n.2317A>G n.2525A>G c.1734A>G (p.Leu578=) c.759A>G (p.Leu253=) c.1473A>G (p.Leu491=) n.2269A>G n.2477A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.197427641A>T | CA422809117 | CRB1 | c.2316A>T (p.Leu772=) c.1197A>T (p.Leu399=) c.459A>T (p.Leu153=) c.1980A>T (p.Leu660=) n.217A>T c.2109A>T (p.Leu703=) c.2128+5685A>T (n.2128+5685A>T) n.2317A>T n.2525A>T c.1734A>T (p.Leu578=) c.759A>T (p.Leu253=) c.1473A>T (p.Leu491=) n.2269A>T n.2477A>T | |
| 1 | g.197427642G>A | CA344036957 | CRB1 | c.2317G>A (p.Ala773Thr) c.1198G>A (p.Ala400Thr) c.460G>A (p.Ala154Thr) c.1981G>A (p.Ala661Thr) n.218G>A c.2110G>A (p.Ala704Thr) c.2128+5686G>A (n.2128+5686G>A) n.2318G>A n.2526G>A c.1735G>A (p.Ala579Thr) c.760G>A (p.Ala254Thr) c.1474G>A (p.Ala492Thr) n.2270G>A n.2478G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197427642G>C | CA344036958 | CRB1 | c.2317G>C (p.Ala773Pro) c.1198G>C (p.Ala400Pro) c.460G>C (p.Ala154Pro) c.1981G>C (p.Ala661Pro) n.218G>C c.2110G>C (p.Ala704Pro) c.2128+5686G>C (n.2128+5686G>C) n.2318G>C n.2526G>C c.1735G>C (p.Ala579Pro) c.760G>C (p.Ala254Pro) c.1474G>C (p.Ala492Pro) n.2270G>C n.2478G>C | |
| 1 | g.197427642G= | CA1218066123 | CRB1 | c.2317G= (p.Ala773=) c.1198G= (p.Ala400=) c.460G= (p.Ala154=) c.1981G= (p.Ala661=) n.218G= c.2110G= (p.Ala704=) c.2128+5686G= (n.2128+5686G=) n.2318G= n.2526G= c.1735G= (p.Ala579=) c.760G= (p.Ala254=) c.1474G= (p.Ala492=) n.2270G= n.2478G= | |
| 1 | g.197427642G>T | CA344036959 | CRB1 | c.2317G>T (p.Ala773Ser) c.1198G>T (p.Ala400Ser) c.460G>T (p.Ala154Ser) c.1981G>T (p.Ala661Ser) n.218G>T c.2110G>T (p.Ala704Ser) c.2128+5686G>T (n.2128+5686G>T) n.2318G>T n.2526G>T c.1735G>T (p.Ala579Ser) c.760G>T (p.Ala254Ser) c.1474G>T (p.Ala492Ser) n.2270G>T n.2478G>T | |
| 1 | g.197427643C>A | CA344036962 | CRB1 | c.2318C>A (p.Ala773Glu) c.1199C>A (p.Ala400Glu) c.461C>A (p.Ala154Glu) c.1982C>A (p.Ala661Glu) n.219C>A c.2111C>A (p.Ala704Glu) c.2128+5687C>A (n.2128+5687C>A) n.2319C>A n.2527C>A c.1736C>A (p.Ala579Glu) c.761C>A (p.Ala254Glu) c.1475C>A (p.Ala492Glu) n.2271C>A n.2479C>A | gnomAD v4 |
| 1 | g.197427643C>G | CA344036960 | CRB1 | c.2318C>G (p.Ala773Gly) c.1199C>G (p.Ala400Gly) c.461C>G (p.Ala154Gly) c.1982C>G (p.Ala661Gly) n.219C>G c.2111C>G (p.Ala704Gly) c.2128+5687C>G (n.2128+5687C>G) n.2319C>G n.2527C>G c.1736C>G (p.Ala579Gly) c.761C>G (p.Ala254Gly) c.1475C>G (p.Ala492Gly) n.2271C>G n.2479C>G | |
| 1 | g.197427643C>T | CA344036961 | CRB1 | c.2318C>T (p.Ala773Val) c.1199C>T (p.Ala400Val) c.461C>T (p.Ala154Val) c.1982C>T (p.Ala661Val) n.219C>T c.2111C>T (p.Ala704Val) c.2128+5687C>T (n.2128+5687C>T) n.2319C>T n.2527C>T c.1736C>T (p.Ala579Val) c.761C>T (p.Ala254Val) c.1475C>T (p.Ala492Val) n.2271C>T n.2479C>T | |
| 1 | g.197427644A>C | CA422809127 | CRB1 | c.2319A>C (p.Ala773=) c.1200A>C (p.Ala400=) c.462A>C (p.Ala154=) c.1983A>C (p.Ala661=) n.220A>C c.2112A>C (p.Ala704=) c.2128+5688A>C (n.2128+5688A>C) n.2320A>C n.2528A>C c.1737A>C (p.Ala579=) c.762A>C (p.Ala254=) c.1476A>C (p.Ala492=) n.2272A>C n.2480A>C | |
| 1 | g.197427644A>G | CA422809128 | CRB1 | c.2319A>G (p.Ala773=) c.1200A>G (p.Ala400=) c.462A>G (p.Ala154=) c.1983A>G (p.Ala661=) n.220A>G c.2112A>G (p.Ala704=) c.2128+5688A>G (n.2128+5688A>G) n.2320A>G n.2528A>G c.1737A>G (p.Ala579=) c.762A>G (p.Ala254=) c.1476A>G (p.Ala492=) n.2272A>G n.2480A>G | |
| 1 | g.197427644A>T | CA422809129 | CRB1 | c.2319A>T (p.Ala773=) c.1200A>T (p.Ala400=) c.462A>T (p.Ala154=) c.1983A>T (p.Ala661=) n.220A>T c.2112A>T (p.Ala704=) c.2128+5688A>T (n.2128+5688A>T) n.2320A>T n.2528A>T c.1737A>T (p.Ala579=) c.762A>T (p.Ala254=) c.1476A>T (p.Ala492=) n.2272A>T n.2480A>T | |
| 1 | g.197427644_197427646del | CA2649670117 | CRB1 | c.2319_2321del (p.Met774del) c.1200_1202del (p.Met401del) c.462_464del (p.Met155del) c.1983_1985del (p.Met662del) n.220_222del c.2112_2114del (p.Met705del) c.2128+5688_2128+5690del (n.2128+5688_2128+5690del) n.2320_2322del n.2528_2530del c.1737_1739del (p.Met580del) c.762_764del (p.Met255del) c.1476_1478del (p.Met493del) n.2272_2274del n.2480_2482del | gnomAD v4 |
| 1 | g.197427645A>C | CA344036963 | CRB1 | c.2320A>C (p.Met774Leu) c.1201A>C (p.Met401Leu) c.463A>C (p.Met155Leu) c.1984A>C (p.Met662Leu) n.221A>C c.2113A>C (p.Met705Leu) c.2128+5689A>C (n.2128+5689A>C) n.2321A>C n.2529A>C c.1738A>C (p.Met580Leu) c.763A>C (p.Met255Leu) c.1477A>C (p.Met493Leu) n.2273A>C n.2481A>C |