Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197427587_197427597delinsTTTGGAAAACA | CA1218066043 | CRB1 | c.2262_2272delinsTTTGGAAAACA (p.Ala754=) c.1143_1153delinsTTTGGAAAACA (p.Ala381=) c.405_415delinsTTTGGAAAACA (p.Ala135=) c.1926_1936delinsTTTGGAAAACA (p.Ala642=) n.163_173delinsTTTGGAAAACA c.2055_2065delinsTTTGGAAAACA (p.Ala685=) c.2128+5631_2128+5641delinsTTTGGAAAACA (n.2128+5631_2128+5641delinsTTTGGAAAACA) n.2263_2273delinsTTTGGAAAACA n.2471_2481delinsTTTGGAAAACA c.1680_1690delinsTTTGGAAAACA (p.Ala560=) c.705_715delinsTTTGGAAAACA (p.Ala235=) c.1419_1429delinsTTTGGAAAACA (p.Ala473=) n.2215_2225delinsTTTGGAAAACA n.2423_2433delinsTTTGGAAAACA | |
1 | g.197427588_197427597del | CA528535357 | CRB1 | c.2263_2272del (p.Leu755AlafsTer10) c.1144_1153del (p.Leu382AlafsTer10) c.406_415del (p.Leu136AlafsTer10) c.1927_1936del (p.Leu643AlafsTer10) n.164_173del c.2056_2065del (p.Leu686AlafsTer10) c.2128+5632_2128+5641del (n.2128+5632_2128+5641del) n.2264_2273del n.2472_2481del c.1681_1690del (p.Leu561AlafsTer10) c.706_715del (p.Leu236AlafsTer10) c.1420_1429del (p.Leu474AlafsTer10) n.2216_2225del n.2424_2433del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427592A>C | CA344036857 | CRB1 | c.2267A>C (p.Glu756Ala) c.1148A>C (p.Glu383Ala) c.410A>C (p.Glu137Ala) c.1931A>C (p.Glu644Ala) n.168A>C c.2060A>C (p.Glu687Ala) c.2128+5636A>C (n.2128+5636A>C) n.2268A>C n.2476A>C c.1685A>C (p.Glu562Ala) c.710A>C (p.Glu237Ala) c.1424A>C (p.Glu475Ala) n.2220A>C n.2428A>C | |
1 | g.197427592A>G | CA344036858 | CRB1 | c.2267A>G (p.Glu756Gly) c.1148A>G (p.Glu383Gly) c.410A>G (p.Glu137Gly) c.1931A>G (p.Glu644Gly) n.168A>G c.2060A>G (p.Glu687Gly) c.2128+5636A>G (n.2128+5636A>G) n.2268A>G n.2476A>G c.1685A>G (p.Glu562Gly) c.710A>G (p.Glu237Gly) c.1424A>G (p.Glu475Gly) n.2220A>G n.2428A>G | |
1 | g.197427592A>T | CA344036859 | CRB1 | c.2267A>T (p.Glu756Val) c.1148A>T (p.Glu383Val) c.410A>T (p.Glu137Val) c.1931A>T (p.Glu644Val) n.168A>T c.2060A>T (p.Glu687Val) c.2128+5636A>T (n.2128+5636A>T) n.2268A>T n.2476A>T c.1685A>T (p.Glu562Val) c.710A>T (p.Glu237Val) c.1424A>T (p.Glu475Val) n.2220A>T n.2428A>T | |
1 | g.197427593A= | CA1218066048 | CRB1 | c.2268A= (p.Glu756=) c.1149A= (p.Glu383=) c.411A= (p.Glu137=) c.1932A= (p.Glu644=) n.169A= c.2061A= (p.Glu687=) c.2128+5637A= (n.2128+5637A=) n.2269A= n.2477A= c.1686A= (p.Glu562=) c.711A= (p.Glu237=) c.1425A= (p.Glu475=) n.2221A= n.2429A= | |
1 | g.197427593A>C | CA344036860 | CRB1 | c.2268A>C (p.Glu756Asp) c.1149A>C (p.Glu383Asp) c.411A>C (p.Glu137Asp) c.1932A>C (p.Glu644Asp) n.169A>C c.2061A>C (p.Glu687Asp) c.2128+5637A>C (n.2128+5637A>C) n.2269A>C n.2477A>C c.1686A>C (p.Glu562Asp) c.711A>C (p.Glu237Asp) c.1425A>C (p.Glu475Asp) n.2221A>C n.2429A>C | |
1 | g.197427593A>G | CA422809013 | CRB1 | c.2268A>G (p.Glu756=) c.1149A>G (p.Glu383=) c.411A>G (p.Glu137=) c.1932A>G (p.Glu644=) n.169A>G c.2061A>G (p.Glu687=) c.2128+5637A>G (n.2128+5637A>G) n.2269A>G n.2477A>G c.1686A>G (p.Glu562=) c.711A>G (p.Glu237=) c.1425A>G (p.Glu475=) n.2221A>G n.2429A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427593A>T | CA344036861 | CRB1 | c.2268A>T (p.Glu756Asp) c.1149A>T (p.Glu383Asp) c.411A>T (p.Glu137Asp) c.1932A>T (p.Glu644Asp) n.169A>T c.2061A>T (p.Glu687Asp) c.2128+5637A>T (n.2128+5637A>T) n.2269A>T n.2477A>T c.1686A>T (p.Glu562Asp) c.711A>T (p.Glu237Asp) c.1425A>T (p.Glu475Asp) n.2221A>T n.2429A>T | |
1 | g.197427594A>C | CA344036862 | CRB1 | c.2269A>C (p.Asn757His) c.1150A>C (p.Asn384His) c.412A>C (p.Asn138His) c.1933A>C (p.Asn645His) n.170A>C c.2062A>C (p.Asn688His) c.2128+5638A>C (n.2128+5638A>C) n.2270A>C n.2478A>C c.1687A>C (p.Asn563His) c.712A>C (p.Asn238His) c.1426A>C (p.Asn476His) n.2222A>C n.2430A>C | |
1 | g.197427594A>G | CA344036863 | CRB1 | c.2269A>G (p.Asn757Asp) c.1150A>G (p.Asn384Asp) c.412A>G (p.Asn138Asp) c.1933A>G (p.Asn645Asp) n.170A>G c.2062A>G (p.Asn688Asp) c.2128+5638A>G (n.2128+5638A>G) n.2270A>G n.2478A>G c.1687A>G (p.Asn563Asp) c.712A>G (p.Asn238Asp) c.1426A>G (p.Asn476Asp) n.2222A>G n.2430A>G | |
1 | g.197427594A>T | CA344036864 | CRB1 | c.2269A>T (p.Asn757Tyr) c.1150A>T (p.Asn384Tyr) c.412A>T (p.Asn138Tyr) c.1933A>T (p.Asn645Tyr) n.170A>T c.2062A>T (p.Asn688Tyr) c.2128+5638A>T (n.2128+5638A>T) n.2270A>T n.2478A>T c.1687A>T (p.Asn563Tyr) c.712A>T (p.Asn238Tyr) c.1426A>T (p.Asn476Tyr) n.2222A>T n.2430A>T | |
1 | g.197427595A= | CA1145351065 | CRB1 | c.2270A= (p.Asn757=) c.1151A= (p.Asn384=) c.413A= (p.Asn138=) c.1934A= (p.Asn645=) n.171A= c.2063A= (p.Asn688=) c.2128+5639A= (n.2128+5639A=) n.2271A= n.2479A= c.1688A= (p.Asn563=) c.713A= (p.Asn238=) c.1427A= (p.Asn476=) n.2223A= n.2431A= | |
1 | g.197427595A>C | CA344036866 | CRB1 | c.2270A>C (p.Asn757Thr) c.1151A>C (p.Asn384Thr) c.413A>C (p.Asn138Thr) c.1934A>C (p.Asn645Thr) n.171A>C c.2063A>C (p.Asn688Thr) c.2128+5639A>C (n.2128+5639A>C) n.2271A>C n.2479A>C c.1688A>C (p.Asn563Thr) c.713A>C (p.Asn238Thr) c.1427A>C (p.Asn476Thr) n.2223A>C n.2431A>C | |
1 | g.197427595A>G | CA1312086 | CRB1 | c.2270A>G (p.Asn757Ser) c.1151A>G (p.Asn384Ser) c.413A>G (p.Asn138Ser) c.1934A>G (p.Asn645Ser) n.171A>G c.2063A>G (p.Asn688Ser) c.2128+5639A>G (n.2128+5639A>G) n.2271A>G n.2479A>G c.1688A>G (p.Asn563Ser) c.713A>G (p.Asn238Ser) c.1427A>G (p.Asn476Ser) n.2223A>G n.2431A>G | dbSNP ExAC gnomAD v3 |
1 | g.197427595A>T | CA344036865 | CRB1 | c.2270A>T (p.Asn757Ile) c.1151A>T (p.Asn384Ile) c.413A>T (p.Asn138Ile) c.1934A>T (p.Asn645Ile) n.171A>T c.2063A>T (p.Asn688Ile) c.2128+5639A>T (n.2128+5639A>T) n.2271A>T n.2479A>T c.1688A>T (p.Asn563Ile) c.713A>T (p.Asn238Ile) c.1427A>T (p.Asn476Ile) n.2223A>T n.2431A>T | |
1 | g.197427596C>A | CA344036867 | CRB1 | c.2271C>A (p.Asn757Lys) c.1152C>A (p.Asn384Lys) c.414C>A (p.Asn138Lys) c.1935C>A (p.Asn645Lys) n.172C>A c.2064C>A (p.Asn688Lys) c.2128+5640C>A (n.2128+5640C>A) n.2272C>A n.2480C>A c.1689C>A (p.Asn563Lys) c.714C>A (p.Asn238Lys) c.1428C>A (p.Asn476Lys) n.2224C>A n.2432C>A | |
1 | g.197427596C>G | CA344036868 | CRB1 | c.2271C>G (p.Asn757Lys) c.1152C>G (p.Asn384Lys) c.414C>G (p.Asn138Lys) c.1935C>G (p.Asn645Lys) n.172C>G c.2064C>G (p.Asn688Lys) c.2128+5640C>G (n.2128+5640C>G) n.2272C>G n.2480C>G c.1689C>G (p.Asn563Lys) c.714C>G (p.Asn238Lys) c.1428C>G (p.Asn476Lys) n.2224C>G n.2432C>G | |
1 | g.197427596C>T | CA422809020 | CRB1 | c.2271C>T (p.Asn757=) c.1152C>T (p.Asn384=) c.414C>T (p.Asn138=) c.1935C>T (p.Asn645=) n.172C>T c.2064C>T (p.Asn688=) c.2128+5640C>T (n.2128+5640C>T) n.2272C>T n.2480C>T c.1689C>T (p.Asn563=) c.714C>T (p.Asn238=) c.1428C>T (p.Asn476=) n.2224C>T n.2432C>T | gnomAD v4 |
1 | g.197427597A= | CA1143500498 | CRB1 | c.2272A= (p.Ser758=) c.1153A= (p.Ser385=) c.415A= (p.Ser139=) c.1936A= (p.Ser646=) n.173A= c.2065A= (p.Ser689=) c.2128+5641A= (n.2128+5641A=) n.2273A= n.2481A= c.1690A= (p.Ser564=) c.715A= (p.Ser239=) c.1429A= (p.Ser477=) n.2225A= n.2433A= | |
1 | g.197427597A>C | CA344036869 | CRB1 | c.2272A>C (p.Ser758Arg) c.1153A>C (p.Ser385Arg) c.415A>C (p.Ser139Arg) c.1936A>C (p.Ser646Arg) n.173A>C c.2065A>C (p.Ser689Arg) c.2128+5641A>C (n.2128+5641A>C) n.2273A>C n.2481A>C c.1690A>C (p.Ser564Arg) c.715A>C (p.Ser239Arg) c.1429A>C (p.Ser477Arg) n.2225A>C n.2433A>C | |
1 | g.197427597A>G | CA1312088 | CRB1 | c.2272A>G (p.Ser758Gly) c.1153A>G (p.Ser385Gly) c.415A>G (p.Ser139Gly) c.1936A>G (p.Ser646Gly) n.173A>G c.2065A>G (p.Ser689Gly) c.2128+5641A>G (n.2128+5641A>G) n.2273A>G n.2481A>G c.1690A>G (p.Ser564Gly) c.715A>G (p.Ser239Gly) c.1429A>G (p.Ser477Gly) n.2225A>G n.2433A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427597A>T | CA1312087 | CRB1 | c.2272A>T (p.Ser758Cys) c.1153A>T (p.Ser385Cys) c.415A>T (p.Ser139Cys) c.1936A>T (p.Ser646Cys) n.173A>T c.2065A>T (p.Ser689Cys) c.2128+5641A>T (n.2128+5641A>T) n.2273A>T n.2481A>T c.1690A>T (p.Ser564Cys) c.715A>T (p.Ser239Cys) c.1429A>T (p.Ser477Cys) n.2225A>T n.2433A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.197427598G>A | CA344036870 | CRB1 | c.2273G>A (p.Ser758Asn) c.1154G>A (p.Ser385Asn) c.416G>A (p.Ser139Asn) c.1937G>A (p.Ser646Asn) n.174G>A c.2066G>A (p.Ser689Asn) c.2128+5642G>A (n.2128+5642G>A) n.2274G>A n.2482G>A c.1691G>A (p.Ser564Asn) c.716G>A (p.Ser239Asn) c.1430G>A (p.Ser477Asn) n.2226G>A n.2434G>A | |
1 | g.197427598G>C | CA344036871 | CRB1 | c.2273G>C (p.Ser758Thr) c.1154G>C (p.Ser385Thr) c.416G>C (p.Ser139Thr) c.1937G>C (p.Ser646Thr) n.174G>C c.2066G>C (p.Ser689Thr) c.2128+5642G>C (n.2128+5642G>C) n.2274G>C n.2482G>C c.1691G>C (p.Ser564Thr) c.716G>C (p.Ser239Thr) c.1430G>C (p.Ser477Thr) n.2226G>C n.2434G>C | |
1 | g.197427598G>T | CA344036872 | CRB1 | c.2273G>T (p.Ser758Ile) c.1154G>T (p.Ser385Ile) c.416G>T (p.Ser139Ile) c.1937G>T (p.Ser646Ile) n.174G>T c.2066G>T (p.Ser689Ile) c.2128+5642G>T (n.2128+5642G>T) n.2274G>T n.2482G>T c.1691G>T (p.Ser564Ile) c.716G>T (p.Ser239Ile) c.1430G>T (p.Ser477Ile) n.2226G>T n.2434G>T | |
1 | g.197427599C>A | CA344036874 | CRB1 | c.2274C>A (p.Ser758Arg) c.1155C>A (p.Ser385Arg) c.417C>A (p.Ser139Arg) c.1938C>A (p.Ser646Arg) n.175C>A c.2067C>A (p.Ser689Arg) c.2128+5643C>A (n.2128+5643C>A) n.2275C>A n.2483C>A c.1692C>A (p.Ser564Arg) c.717C>A (p.Ser239Arg) c.1431C>A (p.Ser477Arg) n.2227C>A n.2435C>A | |
1 | g.197427599C= | CA1218066053 | CRB1 | c.2274C= (p.Ser758=) c.1155C= (p.Ser385=) c.417C= (p.Ser139=) c.1938C= (p.Ser646=) n.175C= c.2067C= (p.Ser689=) c.2128+5643C= (n.2128+5643C=) n.2275C= n.2483C= c.1692C= (p.Ser564=) c.717C= (p.Ser239=) c.1431C= (p.Ser477=) n.2227C= n.2435C= | |
1 | g.197427599C>G | CA344036873 | CRB1 | c.2274C>G (p.Ser758Arg) c.1155C>G (p.Ser385Arg) c.417C>G (p.Ser139Arg) c.1938C>G (p.Ser646Arg) n.175C>G c.2067C>G (p.Ser689Arg) c.2128+5643C>G (n.2128+5643C>G) n.2275C>G n.2483C>G c.1692C>G (p.Ser564Arg) c.717C>G (p.Ser239Arg) c.1431C>G (p.Ser477Arg) n.2227C>G n.2435C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197427599C>T | CA422809027 | CRB1 | c.2274C>T (p.Ser758=) c.1155C>T (p.Ser385=) c.417C>T (p.Ser139=) c.1938C>T (p.Ser646=) n.175C>T c.2067C>T (p.Ser689=) c.2128+5643C>T (n.2128+5643C>T) n.2275C>T n.2483C>T c.1692C>T (p.Ser564=) c.717C>T (p.Ser239=) c.1431C>T (p.Ser477=) n.2227C>T n.2435C>T | ClinVar gnomAD v4 |
1 | g.197427600A= | CA1218066057 | CRB1 | c.2275A= (p.Thr759=) c.1156A= (p.Thr386=) c.418A= (p.Thr140=) c.1939A= (p.Thr647=) n.176A= c.2068A= (p.Thr690=) c.2128+5644A= (n.2128+5644A=) n.2276A= n.2484A= c.1693A= (p.Thr565=) c.718A= (p.Thr240=) c.1432A= (p.Thr478=) n.2228A= n.2436A= | |
1 | g.197427600A>C | CA344036875 | CRB1 | c.2275A>C (p.Thr759Pro) c.1156A>C (p.Thr386Pro) c.418A>C (p.Thr140Pro) c.1939A>C (p.Thr647Pro) n.176A>C c.2068A>C (p.Thr690Pro) c.2128+5644A>C (n.2128+5644A>C) n.2276A>C n.2484A>C c.1693A>C (p.Thr565Pro) c.718A>C (p.Thr240Pro) c.1432A>C (p.Thr478Pro) n.2228A>C n.2436A>C | |
1 | g.197427600A>G | CA344036876 | CRB1 | c.2275A>G (p.Thr759Ala) c.1156A>G (p.Thr386Ala) c.418A>G (p.Thr140Ala) c.1939A>G (p.Thr647Ala) n.176A>G c.2068A>G (p.Thr690Ala) c.2128+5644A>G (n.2128+5644A>G) n.2276A>G n.2484A>G c.1693A>G (p.Thr565Ala) c.718A>G (p.Thr240Ala) c.1432A>G (p.Thr478Ala) n.2228A>G n.2436A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427600A>T | CA344036877 | CRB1 | c.2275A>T (p.Thr759Ser) c.1156A>T (p.Thr386Ser) c.418A>T (p.Thr140Ser) c.1939A>T (p.Thr647Ser) n.176A>T c.2068A>T (p.Thr690Ser) c.2128+5644A>T (n.2128+5644A>T) n.2276A>T n.2484A>T c.1693A>T (p.Thr565Ser) c.718A>T (p.Thr240Ser) c.1432A>T (p.Thr478Ser) n.2228A>T n.2436A>T | |
1 | g.197427601_197427604dup | CA2586964516 | CRB1 | c.2276_2279dup (p.Gln761LeufsTer30) c.1157_1160dup (p.Gln388LeufsTer30) c.419_422dup (p.Gln142LeufsTer30) c.1940_1943dup (p.Gln649LeufsTer30) n.177_180dup c.2069_2072dup (p.Gln692LeufsTer30) c.2128+5645_2128+5648dup (n.2128+5645_2128+5648dup) n.2277_2280dup n.2485_2488dup c.1694_1697dup (p.Gln567LeufsTer30) c.719_722dup (p.Gln242LeufsTer30) c.1433_1436dup (p.Gln480LeufsTer30) n.2229_2232dup n.2437_2440dup | |
1 | g.197427601C>A | CA344036878 | CRB1 | c.2276C>A (p.Thr759Asn) c.1157C>A (p.Thr386Asn) c.419C>A (p.Thr140Asn) c.1940C>A (p.Thr647Asn) n.177C>A c.2069C>A (p.Thr690Asn) c.2128+5645C>A (n.2128+5645C>A) n.2277C>A n.2485C>A c.1694C>A (p.Thr565Asn) c.719C>A (p.Thr240Asn) c.1433C>A (p.Thr478Asn) n.2229C>A n.2437C>A | |
1 | g.197427601C>G | CA344036879 | CRB1 | c.2276C>G (p.Thr759Ser) c.1157C>G (p.Thr386Ser) c.419C>G (p.Thr140Ser) c.1940C>G (p.Thr647Ser) n.177C>G c.2069C>G (p.Thr690Ser) c.2128+5645C>G (n.2128+5645C>G) n.2277C>G n.2485C>G c.1694C>G (p.Thr565Ser) c.719C>G (p.Thr240Ser) c.1433C>G (p.Thr478Ser) n.2229C>G n.2437C>G | |
1 | g.197427601C>T | CA344036880 | CRB1 | c.2276C>T (p.Thr759Ile) c.1157C>T (p.Thr386Ile) c.419C>T (p.Thr140Ile) c.1940C>T (p.Thr647Ile) n.177C>T c.2069C>T (p.Thr690Ile) c.2128+5645C>T (n.2128+5645C>T) n.2277C>T n.2485C>T c.1694C>T (p.Thr565Ile) c.719C>T (p.Thr240Ile) c.1433C>T (p.Thr478Ile) n.2229C>T n.2437C>T | |
1 | g.197427602T>A | CA422809031 | CRB1 | c.2277T>A (p.Thr759=) c.1158T>A (p.Thr386=) c.420T>A (p.Thr140=) c.1941T>A (p.Thr647=) n.178T>A c.2070T>A (p.Thr690=) c.2128+5646T>A (n.2128+5646T>A) n.2278T>A n.2486T>A c.1695T>A (p.Thr565=) c.720T>A (p.Thr240=) c.1434T>A (p.Thr478=) n.2230T>A n.2438T>A | |
1 | g.197427602T>C | CA422809033 | CRB1 | c.2277T>C (p.Thr759=) c.1158T>C (p.Thr386=) c.420T>C (p.Thr140=) c.1941T>C (p.Thr647=) n.178T>C c.2070T>C (p.Thr690=) c.2128+5646T>C (n.2128+5646T>C) n.2278T>C n.2486T>C c.1695T>C (p.Thr565=) c.720T>C (p.Thr240=) c.1434T>C (p.Thr478=) n.2230T>C n.2438T>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427602T>G | CA422809034 | CRB1 | c.2277T>G (p.Thr759=) c.1158T>G (p.Thr386=) c.420T>G (p.Thr140=) c.1941T>G (p.Thr647=) n.178T>G c.2070T>G (p.Thr690=) c.2128+5646T>G (n.2128+5646T>G) n.2278T>G n.2486T>G c.1695T>G (p.Thr565=) c.720T>G (p.Thr240=) c.1434T>G (p.Thr478=) n.2230T>G n.2438T>G | |
1 | g.197427603T>A | CA344036881 | CRB1 | c.2278T>A (p.Tyr760Asn) c.1159T>A (p.Tyr387Asn) c.421T>A (p.Tyr141Asn) c.1942T>A (p.Tyr648Asn) n.179T>A c.2071T>A (p.Tyr691Asn) c.2128+5647T>A (n.2128+5647T>A) n.2279T>A n.2487T>A c.1696T>A (p.Tyr566Asn) c.721T>A (p.Tyr241Asn) c.1435T>A (p.Tyr479Asn) n.2231T>A n.2439T>A | ClinVar dbSNP |
1 | g.197427603T>C | CA344036883 | CRB1 | c.2278T>C (p.Tyr760His) c.1159T>C (p.Tyr387His) c.421T>C (p.Tyr141His) c.1942T>C (p.Tyr648His) n.179T>C c.2071T>C (p.Tyr691His) c.2128+5647T>C (n.2128+5647T>C) n.2279T>C n.2487T>C c.1696T>C (p.Tyr566His) c.721T>C (p.Tyr241His) c.1435T>C (p.Tyr479His) n.2231T>C n.2439T>C | gnomAD v4 |
1 | g.197427603T>G | CA344036882 | CRB1 | c.2278T>G (p.Tyr760Asp) c.1159T>G (p.Tyr387Asp) c.421T>G (p.Tyr141Asp) c.1942T>G (p.Tyr648Asp) n.179T>G c.2071T>G (p.Tyr691Asp) c.2128+5647T>G (n.2128+5647T>G) n.2279T>G n.2487T>G c.1696T>G (p.Tyr566Asp) c.721T>G (p.Tyr241Asp) c.1435T>G (p.Tyr479Asp) n.2231T>G n.2439T>G | |
1 | g.197427604A= | CA1218066059 | CRB1 | c.2279A= (p.Tyr760=) c.1160A= (p.Tyr387=) c.422A= (p.Tyr141=) c.1943A= (p.Tyr648=) n.180A= c.2072A= (p.Tyr691=) c.2128+5648A= (n.2128+5648A=) n.2280A= n.2488A= c.1697A= (p.Tyr566=) c.722A= (p.Tyr241=) c.1436A= (p.Tyr479=) n.2232A= n.2440A= | |
1 | g.197427604A>C | CA344036884 | CRB1 | c.2279A>C (p.Tyr760Ser) c.1160A>C (p.Tyr387Ser) c.422A>C (p.Tyr141Ser) c.1943A>C (p.Tyr648Ser) n.180A>C c.2072A>C (p.Tyr691Ser) c.2128+5648A>C (n.2128+5648A>C) n.2280A>C n.2488A>C c.1697A>C (p.Tyr566Ser) c.722A>C (p.Tyr241Ser) c.1436A>C (p.Tyr479Ser) n.2232A>C n.2440A>C | |
1 | g.197427604A>G | CA1312089 | CRB1 | c.2279A>G (p.Tyr760Cys) c.1160A>G (p.Tyr387Cys) c.422A>G (p.Tyr141Cys) c.1943A>G (p.Tyr648Cys) n.180A>G c.2072A>G (p.Tyr691Cys) c.2128+5648A>G (n.2128+5648A>G) n.2280A>G n.2488A>G c.1697A>G (p.Tyr566Cys) c.722A>G (p.Tyr241Cys) c.1436A>G (p.Tyr479Cys) n.2232A>G n.2440A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427604A>T | CA344036885 | CRB1 | c.2279A>T (p.Tyr760Phe) c.1160A>T (p.Tyr387Phe) c.422A>T (p.Tyr141Phe) c.1943A>T (p.Tyr648Phe) n.180A>T c.2072A>T (p.Tyr691Phe) c.2128+5648A>T (n.2128+5648A>T) n.2280A>T n.2488A>T c.1697A>T (p.Tyr566Phe) c.722A>T (p.Tyr241Phe) c.1436A>T (p.Tyr479Phe) n.2232A>T n.2440A>T | |
1 | g.197427605T>A | CA344036886 | CRB1 | c.2280T>A (p.Tyr760Ter) c.1161T>A (p.Tyr387Ter) c.423T>A (p.Tyr141Ter) c.1944T>A (p.Tyr648Ter) n.181T>A c.2073T>A (p.Tyr691Ter) c.2128+5649T>A (n.2128+5649T>A) n.2281T>A n.2489T>A c.1698T>A (p.Tyr566Ter) c.723T>A (p.Tyr241Ter) c.1437T>A (p.Tyr479Ter) n.2233T>A n.2441T>A | |
1 | g.197427605T>C | CA422809041 | CRB1 | c.2280T>C (p.Tyr760=) c.1161T>C (p.Tyr387=) c.423T>C (p.Tyr141=) c.1944T>C (p.Tyr648=) n.181T>C c.2073T>C (p.Tyr691=) c.2128+5649T>C (n.2128+5649T>C) n.2281T>C n.2489T>C c.1698T>C (p.Tyr566=) c.723T>C (p.Tyr241=) c.1437T>C (p.Tyr479=) n.2233T>C n.2441T>C | ClinVar gnomAD v4 |
1 | g.197427605T>G | CA344036887 | CRB1 | c.2280T>G (p.Tyr760Ter) c.1161T>G (p.Tyr387Ter) c.423T>G (p.Tyr141Ter) c.1944T>G (p.Tyr648Ter) n.181T>G c.2073T>G (p.Tyr691Ter) c.2128+5649T>G (n.2128+5649T>G) n.2281T>G n.2489T>G c.1698T>G (p.Tyr566Ter) c.723T>G (p.Tyr241Ter) c.1437T>G (p.Tyr479Ter) n.2233T>G n.2441T>G | |
1 | g.197427606C>A | CA344036888 | CRB1 | c.2281C>A (p.Gln761Lys) c.1162C>A (p.Gln388Lys) c.424C>A (p.Gln142Lys) c.1945C>A (p.Gln649Lys) n.182C>A c.2074C>A (p.Gln692Lys) c.2128+5650C>A (n.2128+5650C>A) n.2282C>A n.2490C>A c.1699C>A (p.Gln567Lys) c.724C>A (p.Gln242Lys) c.1438C>A (p.Gln480Lys) n.2234C>A n.2442C>A | |
1 | g.197427606C>G | CA344036889 | CRB1 | c.2281C>G (p.Gln761Glu) c.1162C>G (p.Gln388Glu) c.424C>G (p.Gln142Glu) c.1945C>G (p.Gln649Glu) n.182C>G c.2074C>G (p.Gln692Glu) c.2128+5650C>G (n.2128+5650C>G) n.2282C>G n.2490C>G c.1699C>G (p.Gln567Glu) c.724C>G (p.Gln242Glu) c.1438C>G (p.Gln480Glu) n.2234C>G n.2442C>G | |
1 | g.197427606C>T | CA344036890 | CRB1 | c.2281C>T (p.Gln761Ter) c.1162C>T (p.Gln388Ter) c.424C>T (p.Gln142Ter) c.1945C>T (p.Gln649Ter) n.182C>T c.2074C>T (p.Gln692Ter) c.2128+5650C>T (n.2128+5650C>T) n.2282C>T n.2490C>T c.1699C>T (p.Gln567Ter) c.724C>T (p.Gln242Ter) c.1438C>T (p.Gln480Ter) n.2234C>T n.2442C>T | |
1 | g.197427607A= | CA1218066061 | CRB1 | c.2282A= (p.Gln761=) c.1163A= (p.Gln388=) c.425A= (p.Gln142=) c.1946A= (p.Gln649=) n.183A= c.2075A= (p.Gln692=) c.2128+5651A= (n.2128+5651A=) n.2283A= n.2491A= c.1700A= (p.Gln567=) c.725A= (p.Gln242=) c.1439A= (p.Gln480=) n.2235A= n.2443A= | |
1 | g.197427607A>C | CA344036891 | CRB1 | c.2282A>C (p.Gln761Pro) c.1163A>C (p.Gln388Pro) c.425A>C (p.Gln142Pro) c.1946A>C (p.Gln649Pro) n.183A>C c.2075A>C (p.Gln692Pro) c.2128+5651A>C (n.2128+5651A>C) n.2283A>C n.2491A>C c.1700A>C (p.Gln567Pro) c.725A>C (p.Gln242Pro) c.1439A>C (p.Gln480Pro) n.2235A>C n.2443A>C | dbSNP gnomAD v4 |
1 | g.197427607A>G | CA344036892 | CRB1 | c.2282A>G (p.Gln761Arg) c.1163A>G (p.Gln388Arg) c.425A>G (p.Gln142Arg) c.1946A>G (p.Gln649Arg) n.183A>G c.2075A>G (p.Gln692Arg) c.2128+5651A>G (n.2128+5651A>G) n.2283A>G n.2491A>G c.1700A>G (p.Gln567Arg) c.725A>G (p.Gln242Arg) c.1439A>G (p.Gln480Arg) n.2235A>G n.2443A>G | ClinVar |
1 | g.197427607A>T | CA344036893 | CRB1 | c.2282A>T (p.Gln761Leu) c.1163A>T (p.Gln388Leu) c.425A>T (p.Gln142Leu) c.1946A>T (p.Gln649Leu) n.183A>T c.2075A>T (p.Gln692Leu) c.2128+5651A>T (n.2128+5651A>T) n.2283A>T n.2491A>T c.1700A>T (p.Gln567Leu) c.725A>T (p.Gln242Leu) c.1439A>T (p.Gln480Leu) n.2235A>T n.2443A>T | |
1 | g.197427608A= | CA1218066064 | CRB1 | c.2283A= (p.Gln761=) c.1164A= (p.Gln388=) c.426A= (p.Gln142=) c.1947A= (p.Gln649=) n.184A= c.2076A= (p.Gln692=) c.2128+5652A= (n.2128+5652A=) n.2284A= n.2492A= c.1701A= (p.Gln567=) c.726A= (p.Gln242=) c.1440A= (p.Gln480=) n.2236A= n.2444A= | |
1 | g.197427608A>C | CA1312090 | CRB1 | c.2283A>C (p.Gln761His) c.1164A>C (p.Gln388His) c.426A>C (p.Gln142His) c.1947A>C (p.Gln649His) n.184A>C c.2076A>C (p.Gln692His) c.2128+5652A>C (n.2128+5652A>C) n.2284A>C n.2492A>C c.1701A>C (p.Gln567His) c.726A>C (p.Gln242His) c.1440A>C (p.Gln480His) n.2236A>C n.2444A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427608A>G | CA422809046 | CRB1 | c.2283A>G (p.Gln761=) c.1164A>G (p.Gln388=) c.426A>G (p.Gln142=) c.1947A>G (p.Gln649=) n.184A>G c.2076A>G (p.Gln692=) c.2128+5652A>G (n.2128+5652A>G) n.2284A>G n.2492A>G c.1701A>G (p.Gln567=) c.726A>G (p.Gln242=) c.1440A>G (p.Gln480=) n.2236A>G n.2444A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427608A>T | CA344036894 | CRB1 | c.2283A>T (p.Gln761His) c.1164A>T (p.Gln388His) c.426A>T (p.Gln142His) c.1947A>T (p.Gln649His) n.184A>T c.2076A>T (p.Gln692His) c.2128+5652A>T (n.2128+5652A>T) n.2284A>T n.2492A>T c.1701A>T (p.Gln567His) c.726A>T (p.Gln242His) c.1440A>T (p.Gln480His) n.2236A>T n.2444A>T | |
1 | g.197427609T>A | CA344036895 | CRB1 | c.2284T>A (p.Tyr762Asn) c.1165T>A (p.Tyr389Asn) c.427T>A (p.Tyr143Asn) c.1948T>A (p.Tyr650Asn) n.185T>A c.2077T>A (p.Tyr693Asn) c.2128+5653T>A (n.2128+5653T>A) n.2285T>A n.2493T>A c.1702T>A (p.Tyr568Asn) c.727T>A (p.Tyr243Asn) c.1441T>A (p.Tyr481Asn) n.2237T>A n.2445T>A | |
1 | g.197427609T>C | CA1312091 | CRB1 | c.2284T>C (p.Tyr762His) c.1165T>C (p.Tyr389His) c.427T>C (p.Tyr143His) c.1948T>C (p.Tyr650His) n.185T>C c.2077T>C (p.Tyr693His) c.2128+5653T>C (n.2128+5653T>C) n.2285T>C n.2493T>C c.1702T>C (p.Tyr568His) c.727T>C (p.Tyr243His) c.1441T>C (p.Tyr481His) n.2237T>C n.2445T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427609T>G | CA344036896 | CRB1 | c.2284T>G (p.Tyr762Asp) c.1165T>G (p.Tyr389Asp) c.427T>G (p.Tyr143Asp) c.1948T>G (p.Tyr650Asp) n.185T>G c.2077T>G (p.Tyr693Asp) c.2128+5653T>G (n.2128+5653T>G) n.2285T>G n.2493T>G c.1702T>G (p.Tyr568Asp) c.727T>G (p.Tyr243Asp) c.1441T>G (p.Tyr481Asp) n.2237T>G n.2445T>G | |
1 | g.197427609T= | CA1148714012 | CRB1 | c.2284T= (p.Tyr762=) c.1165T= (p.Tyr389=) c.427T= (p.Tyr143=) c.1948T= (p.Tyr650=) n.185T= c.2077T= (p.Tyr693=) c.2128+5653T= (n.2128+5653T=) n.2285T= n.2493T= c.1702T= (p.Tyr568=) c.727T= (p.Tyr243=) c.1441T= (p.Tyr481=) n.2237T= n.2445T= | |
1 | g.197427610A>C | CA344036897 | CRB1 | c.2285A>C (p.Tyr762Ser) c.1166A>C (p.Tyr389Ser) c.428A>C (p.Tyr143Ser) c.1949A>C (p.Tyr650Ser) n.186A>C c.2078A>C (p.Tyr693Ser) c.2128+5654A>C (n.2128+5654A>C) n.2286A>C n.2494A>C c.1703A>C (p.Tyr568Ser) c.728A>C (p.Tyr243Ser) c.1442A>C (p.Tyr481Ser) n.2238A>C n.2446A>C | |
1 | g.197427610A>G | CA344036898 | CRB1 | c.2285A>G (p.Tyr762Cys) c.1166A>G (p.Tyr389Cys) c.428A>G (p.Tyr143Cys) c.1949A>G (p.Tyr650Cys) n.186A>G c.2078A>G (p.Tyr693Cys) c.2128+5654A>G (n.2128+5654A>G) n.2286A>G n.2494A>G c.1703A>G (p.Tyr568Cys) c.728A>G (p.Tyr243Cys) c.1442A>G (p.Tyr481Cys) n.2238A>G n.2446A>G | |
1 | g.197427610A>T | CA344036899 | CRB1 | c.2285A>T (p.Tyr762Phe) c.1166A>T (p.Tyr389Phe) c.428A>T (p.Tyr143Phe) c.1949A>T (p.Tyr650Phe) n.186A>T c.2078A>T (p.Tyr693Phe) c.2128+5654A>T (n.2128+5654A>T) n.2286A>T n.2494A>T c.1703A>T (p.Tyr568Phe) c.728A>T (p.Tyr243Phe) c.1442A>T (p.Tyr481Phe) n.2238A>T n.2446A>T | gnomAD v4 |
1 | g.197427611T>A | CA344036900 | CRB1 | c.2286T>A (p.Tyr762Ter) c.1167T>A (p.Tyr389Ter) c.429T>A (p.Tyr143Ter) c.1950T>A (p.Tyr650Ter) n.187T>A c.2079T>A (p.Tyr693Ter) c.2128+5655T>A (n.2128+5655T>A) n.2287T>A n.2495T>A c.1704T>A (p.Tyr568Ter) c.729T>A (p.Tyr243Ter) c.1443T>A (p.Tyr481Ter) n.2239T>A n.2447T>A | |
1 | g.197427611T>C | CA422809048 | CRB1 | c.2286T>C (p.Tyr762=) c.1167T>C (p.Tyr389=) c.429T>C (p.Tyr143=) c.1950T>C (p.Tyr650=) n.187T>C c.2079T>C (p.Tyr693=) c.2128+5655T>C (n.2128+5655T>C) n.2287T>C n.2495T>C c.1704T>C (p.Tyr568=) c.729T>C (p.Tyr243=) c.1443T>C (p.Tyr481=) n.2239T>C n.2447T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427611T>G | CA344036901 | CRB1 | c.2286T>G (p.Tyr762Ter) c.1167T>G (p.Tyr389Ter) c.429T>G (p.Tyr143Ter) c.1950T>G (p.Tyr650Ter) n.187T>G c.2079T>G (p.Tyr693Ter) c.2128+5655T>G (n.2128+5655T>G) n.2287T>G n.2495T>G c.1704T>G (p.Tyr568Ter) c.729T>G (p.Tyr243Ter) c.1443T>G (p.Tyr481Ter) n.2239T>G n.2447T>G | |
1 | g.197427611T= | CA1218066067 | CRB1 | c.2286T= (p.Tyr762=) c.1167T= (p.Tyr389=) c.429T= (p.Tyr143=) c.1950T= (p.Tyr650=) n.187T= c.2079T= (p.Tyr693=) c.2128+5655T= (n.2128+5655T=) n.2287T= n.2495T= c.1704T= (p.Tyr568=) c.729T= (p.Tyr243=) c.1443T= (p.Tyr481=) n.2239T= n.2447T= | |
1 | g.197427612A= | CA1218066070 | CRB1 | c.2287A= (p.Ile763=) c.1168A= (p.Ile390=) c.430A= (p.Ile144=) c.1951A= (p.Ile651=) n.188A= c.2080A= (p.Ile694=) c.2128+5656A= (n.2128+5656A=) n.2288A= n.2496A= c.1705A= (p.Ile569=) c.730A= (p.Ile244=) c.1444A= (p.Ile482=) n.2240A= n.2448A= | |
1 | g.197427612A>C | CA344036903 | CRB1 | c.2287A>C (p.Ile763Leu) c.1168A>C (p.Ile390Leu) c.430A>C (p.Ile144Leu) c.1951A>C (p.Ile651Leu) n.188A>C c.2080A>C (p.Ile694Leu) c.2128+5656A>C (n.2128+5656A>C) n.2288A>C n.2496A>C c.1705A>C (p.Ile569Leu) c.730A>C (p.Ile244Leu) c.1444A>C (p.Ile482Leu) n.2240A>C n.2448A>C | |
1 | g.197427612A>G | CA344036905 | CRB1 | c.2287A>G (p.Ile763Val) c.1168A>G (p.Ile390Val) c.430A>G (p.Ile144Val) c.1951A>G (p.Ile651Val) n.188A>G c.2080A>G (p.Ile694Val) c.2128+5656A>G (n.2128+5656A>G) n.2288A>G n.2496A>G c.1705A>G (p.Ile569Val) c.730A>G (p.Ile244Val) c.1444A>G (p.Ile482Val) n.2240A>G n.2448A>G | |
1 | g.197427612A>T | CA344036904 | CRB1 | c.2287A>T (p.Ile763Phe) c.1168A>T (p.Ile390Phe) c.430A>T (p.Ile144Phe) c.1951A>T (p.Ile651Phe) n.188A>T c.2080A>T (p.Ile694Phe) c.2128+5656A>T (n.2128+5656A>T) n.2288A>T n.2496A>T c.1705A>T (p.Ile569Phe) c.730A>T (p.Ile244Phe) c.1444A>T (p.Ile482Phe) n.2240A>T n.2448A>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427613T>A | CA344036906 | CRB1 | c.2288T>A (p.Ile763Asn) c.1169T>A (p.Ile390Asn) c.431T>A (p.Ile144Asn) c.1952T>A (p.Ile651Asn) n.189T>A c.2081T>A (p.Ile694Asn) c.2128+5657T>A (n.2128+5657T>A) n.2289T>A n.2497T>A c.1706T>A (p.Ile569Asn) c.731T>A (p.Ile244Asn) c.1445T>A (p.Ile482Asn) n.2241T>A n.2449T>A | ClinVar dbSNP gnomAD v4 |
1 | g.197427613T>C | CA344036907 | CRB1 | c.2288T>C (p.Ile763Thr) c.1169T>C (p.Ile390Thr) c.431T>C (p.Ile144Thr) c.1952T>C (p.Ile651Thr) n.189T>C c.2081T>C (p.Ile694Thr) c.2128+5657T>C (n.2128+5657T>C) n.2289T>C n.2497T>C c.1706T>C (p.Ile569Thr) c.731T>C (p.Ile244Thr) c.1445T>C (p.Ile482Thr) n.2241T>C n.2449T>C | |
1 | g.197427613T>G | CA344036908 | CRB1 | c.2288T>G (p.Ile763Ser) c.1169T>G (p.Ile390Ser) c.431T>G (p.Ile144Ser) c.1952T>G (p.Ile651Ser) n.189T>G c.2081T>G (p.Ile694Ser) c.2128+5657T>G (n.2128+5657T>G) n.2289T>G n.2497T>G c.1706T>G (p.Ile569Ser) c.731T>G (p.Ile244Ser) c.1445T>G (p.Ile482Ser) n.2241T>G n.2449T>G | |
1 | g.197427614C>A | CA422809053 | CRB1 | c.2289C>A (p.Ile763=) c.1170C>A (p.Ile390=) c.432C>A (p.Ile144=) c.1953C>A (p.Ile651=) n.190C>A c.2082C>A (p.Ile694=) c.2128+5658C>A (n.2128+5658C>A) n.2290C>A n.2498C>A c.1707C>A (p.Ile569=) c.732C>A (p.Ile244=) c.1446C>A (p.Ile482=) n.2242C>A n.2450C>A | |
1 | g.197427614C>G | CA344036909 | CRB1 | c.2289C>G (p.Ile763Met) c.1170C>G (p.Ile390Met) c.432C>G (p.Ile144Met) c.1953C>G (p.Ile651Met) n.190C>G c.2082C>G (p.Ile694Met) c.2128+5658C>G (n.2128+5658C>G) n.2290C>G n.2498C>G c.1707C>G (p.Ile569Met) c.732C>G (p.Ile244Met) c.1446C>G (p.Ile482Met) n.2242C>G n.2450C>G | |
1 | g.197427614C>T | CA422809052 | CRB1 | c.2289C>T (p.Ile763=) c.1170C>T (p.Ile390=) c.432C>T (p.Ile144=) c.1953C>T (p.Ile651=) n.190C>T c.2082C>T (p.Ile694=) c.2128+5658C>T (n.2128+5658C>T) n.2290C>T n.2498C>T c.1707C>T (p.Ile569=) c.732C>T (p.Ile244=) c.1446C>T (p.Ile482=) n.2242C>T n.2450C>T | COSMIC COSMIC |
1 | g.197427615C>A | CA344036910 | CRB1 | c.2290C>A (p.Arg764Ser) c.1171C>A (p.Arg391Ser) c.433C>A (p.Arg145Ser) c.1954C>A (p.Arg652Ser) n.191C>A c.2083C>A (p.Arg695Ser) c.2128+5659C>A (n.2128+5659C>A) n.2291C>A n.2499C>A c.1708C>A (p.Arg570Ser) c.733C>A (p.Arg245Ser) c.1447C>A (p.Arg483Ser) n.2243C>A n.2451C>A | |
1 | g.197427615C= | CA1140762941 | CRB1 | c.2290C= (p.Arg764=) c.1171C= (p.Arg391=) c.433C= (p.Arg145=) c.1954C= (p.Arg652=) n.191C= c.2083C= (p.Arg695=) c.2128+5659C= (n.2128+5659C=) n.2291C= n.2499C= c.1708C= (p.Arg570=) c.733C= (p.Arg245=) c.1447C= (p.Arg483=) n.2243C= n.2451C= | |
1 | g.197427615C>G | CA1312092 | CRB1 | c.2290C>G (p.Arg764Gly) c.1171C>G (p.Arg391Gly) c.433C>G (p.Arg145Gly) c.1954C>G (p.Arg652Gly) n.191C>G c.2083C>G (p.Arg695Gly) c.2128+5659C>G (n.2128+5659C>G) n.2291C>G n.2499C>G c.1708C>G (p.Arg570Gly) c.733C>G (p.Arg245Gly) c.1447C>G (p.Arg483Gly) n.2243C>G n.2451C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427615C>T | CA228006 | CRB1 | c.2290C>T (p.Arg764Cys) c.1171C>T (p.Arg391Cys) c.433C>T (p.Arg145Cys) c.1954C>T (p.Arg652Cys) n.191C>T c.2083C>T (p.Arg695Cys) c.2128+5659C>T (n.2128+5659C>T) n.2291C>T n.2499C>T c.1708C>T (p.Arg570Cys) c.733C>T (p.Arg245Cys) c.1447C>T (p.Arg483Cys) n.2243C>T n.2451C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197427616G>A | CA233861 | CRB1 | c.2291G>A (p.Arg764His) c.1172G>A (p.Arg391His) c.434G>A (p.Arg145His) c.1955G>A (p.Arg652His) n.192G>A c.2084G>A (p.Arg695His) c.2128+5660G>A (n.2128+5660G>A) n.2292G>A n.2500G>A c.1709G>A (p.Arg570His) c.734G>A (p.Arg245His) c.1448G>A (p.Arg483His) n.2244G>A n.2452G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427616G>C | CA344036911 | CRB1 | c.2291G>C (p.Arg764Pro) c.1172G>C (p.Arg391Pro) c.434G>C (p.Arg145Pro) c.1955G>C (p.Arg652Pro) n.192G>C c.2084G>C (p.Arg695Pro) c.2128+5660G>C (n.2128+5660G>C) n.2292G>C n.2500G>C c.1709G>C (p.Arg570Pro) c.734G>C (p.Arg245Pro) c.1448G>C (p.Arg483Pro) n.2244G>C n.2452G>C | gnomAD v4 |
1 | g.197427616G= | CA1144034625 | CRB1 | c.2291G= (p.Arg764=) c.1172G= (p.Arg391=) c.434G= (p.Arg145=) c.1955G= (p.Arg652=) n.192G= c.2084G= (p.Arg695=) c.2128+5660G= (n.2128+5660G=) n.2292G= n.2500G= c.1709G= (p.Arg570=) c.734G= (p.Arg245=) c.1448G= (p.Arg483=) n.2244G= n.2452G= | |
1 | g.197427616G>T | CA35900554 | CRB1 | c.2291G>T (p.Arg764Leu) c.1172G>T (p.Arg391Leu) c.434G>T (p.Arg145Leu) c.1955G>T (p.Arg652Leu) n.192G>T c.2084G>T (p.Arg695Leu) c.2128+5660G>T (n.2128+5660G>T) n.2292G>T n.2500G>T c.1709G>T (p.Arg570Leu) c.734G>T (p.Arg245Leu) c.1448G>T (p.Arg483Leu) n.2244G>T n.2452G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197427618_197427619del | CA2580611529 | CRB1 | c.2293_2294del (p.Val765LeufsTer24) c.1174_1175del (p.Val392LeufsTer24) c.436_437del (p.Val146LeufsTer24) c.1957_1958del (p.Val653LeufsTer24) n.194_195del c.2086_2087del (p.Val696LeufsTer24) c.2128+5662_2128+5663del (n.2128+5662_2128+5663del) n.2294_2295del n.2502_2503del c.1711_1712del (p.Val571LeufsTer24) c.736_737del (p.Val246LeufsTer24) c.1450_1451del (p.Val484LeufsTer24) n.2246_2247del n.2454_2455del | ClinVar |
1 | g.197427617T>A | CA422809055 | CRB1 | c.2292T>A (p.Arg764=) c.1173T>A (p.Arg391=) c.435T>A (p.Arg145=) c.1956T>A (p.Arg652=) n.193T>A c.2085T>A (p.Arg695=) c.2128+5661T>A (n.2128+5661T>A) n.2293T>A n.2501T>A c.1710T>A (p.Arg570=) c.735T>A (p.Arg245=) c.1449T>A (p.Arg483=) n.2245T>A n.2453T>A | |
1 | g.197427617T>C | CA422809056 | CRB1 | c.2292T>C (p.Arg764=) c.1173T>C (p.Arg391=) c.435T>C (p.Arg145=) c.1956T>C (p.Arg652=) n.193T>C c.2085T>C (p.Arg695=) c.2128+5661T>C (n.2128+5661T>C) n.2293T>C n.2501T>C c.1710T>C (p.Arg570=) c.735T>C (p.Arg245=) c.1449T>C (p.Arg483=) n.2245T>C n.2453T>C | |
1 | g.197427617T>G | CA422809057 | CRB1 | c.2292T>G (p.Arg764=) c.1173T>G (p.Arg391=) c.435T>G (p.Arg145=) c.1956T>G (p.Arg652=) n.193T>G c.2085T>G (p.Arg695=) c.2128+5661T>G (n.2128+5661T>G) n.2293T>G n.2501T>G c.1710T>G (p.Arg570=) c.735T>G (p.Arg245=) c.1449T>G (p.Arg483=) n.2245T>G n.2453T>G | |
1 | g.197427618G>A | CA344036912 | CRB1 | c.2293G>A (p.Val765Ile) c.1174G>A (p.Val392Ile) c.436G>A (p.Val146Ile) c.1957G>A (p.Val653Ile) n.194G>A c.2086G>A (p.Val696Ile) c.2128+5662G>A (n.2128+5662G>A) n.2294G>A n.2502G>A c.1711G>A (p.Val571Ile) c.736G>A (p.Val246Ile) c.1450G>A (p.Val484Ile) n.2246G>A n.2454G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427618G>C | CA344036913 | CRB1 | c.2293G>C (p.Val765Leu) c.1174G>C (p.Val392Leu) c.436G>C (p.Val146Leu) c.1957G>C (p.Val653Leu) n.194G>C c.2086G>C (p.Val696Leu) c.2128+5662G>C (n.2128+5662G>C) n.2294G>C n.2502G>C c.1711G>C (p.Val571Leu) c.736G>C (p.Val246Leu) c.1450G>C (p.Val484Leu) n.2246G>C n.2454G>C | |
1 | g.197427618G= | CA1218066080 | CRB1 | c.2293G= (p.Val765=) c.1174G= (p.Val392=) c.436G= (p.Val146=) c.1957G= (p.Val653=) n.194G= c.2086G= (p.Val696=) c.2128+5662G= (n.2128+5662G=) n.2294G= n.2502G= c.1711G= (p.Val571=) c.736G= (p.Val246=) c.1450G= (p.Val484=) n.2246G= n.2454G= | |
1 | g.197427618G>T | CA344036914 | CRB1 | c.2293G>T (p.Val765Phe) c.1174G>T (p.Val392Phe) c.436G>T (p.Val146Phe) c.1957G>T (p.Val653Phe) n.194G>T c.2086G>T (p.Val696Phe) c.2128+5662G>T (n.2128+5662G>T) n.2294G>T n.2502G>T c.1711G>T (p.Val571Phe) c.736G>T (p.Val246Phe) c.1450G>T (p.Val484Phe) n.2246G>T n.2454G>T | COSMIC COSMIC |
1 | g.197427619T>A | CA344036915 | CRB1 | c.2294T>A (p.Val765Asp) c.1175T>A (p.Val392Asp) c.437T>A (p.Val146Asp) c.1958T>A (p.Val653Asp) n.195T>A c.2087T>A (p.Val696Asp) c.2128+5663T>A (n.2128+5663T>A) n.2295T>A n.2503T>A c.1712T>A (p.Val571Asp) c.737T>A (p.Val246Asp) c.1451T>A (p.Val484Asp) n.2247T>A n.2455T>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197427619T>C | CA10575439 | CRB1 | c.2294T>C (p.Val765Ala) c.1175T>C (p.Val392Ala) c.437T>C (p.Val146Ala) c.1958T>C (p.Val653Ala) n.195T>C c.2087T>C (p.Val696Ala) c.2128+5663T>C (n.2128+5663T>C) n.2295T>C n.2503T>C c.1712T>C (p.Val571Ala) c.737T>C (p.Val246Ala) c.1451T>C (p.Val484Ala) n.2247T>C n.2455T>C | ClinVar dbSNP |
1 | g.197427619T>G | CA344036916 | CRB1 | c.2294T>G (p.Val765Gly) c.1175T>G (p.Val392Gly) c.437T>G (p.Val146Gly) c.1958T>G (p.Val653Gly) n.195T>G c.2087T>G (p.Val696Gly) c.2128+5663T>G (n.2128+5663T>G) n.2295T>G n.2503T>G c.1712T>G (p.Val571Gly) c.737T>G (p.Val246Gly) c.1451T>G (p.Val484Gly) n.2247T>G n.2455T>G | |
1 | g.197427619T= | CA1218066081 | CRB1 | c.2294T= (p.Val765=) c.1175T= (p.Val392=) c.437T= (p.Val146=) c.1958T= (p.Val653=) n.195T= c.2087T= (p.Val696=) c.2128+5663T= (n.2128+5663T=) n.2295T= n.2503T= c.1712T= (p.Val571=) c.737T= (p.Val246=) c.1451T= (p.Val484=) n.2247T= n.2455T= | |
1 | g.197427620C>A | CA422809064 | CRB1 | c.2295C>A (p.Val765=) c.1176C>A (p.Val392=) c.438C>A (p.Val146=) c.1959C>A (p.Val653=) n.196C>A c.2088C>A (p.Val696=) c.2128+5664C>A (n.2128+5664C>A) n.2296C>A n.2504C>A c.1713C>A (p.Val571=) c.738C>A (p.Val246=) c.1452C>A (p.Val484=) n.2248C>A n.2456C>A | |
1 | g.197427620C>G | CA422809062 | CRB1 | c.2295C>G (p.Val765=) c.1176C>G (p.Val392=) c.438C>G (p.Val146=) c.1959C>G (p.Val653=) n.196C>G c.2088C>G (p.Val696=) c.2128+5664C>G (n.2128+5664C>G) n.2296C>G n.2504C>G c.1713C>G (p.Val571=) c.738C>G (p.Val246=) c.1452C>G (p.Val484=) n.2248C>G n.2456C>G | |
1 | g.197427620C>T | CA422809066 | CRB1 | c.2295C>T (p.Val765=) c.1176C>T (p.Val392=) c.438C>T (p.Val146=) c.1959C>T (p.Val653=) n.196C>T c.2088C>T (p.Val696=) c.2128+5664C>T (n.2128+5664C>T) n.2296C>T n.2504C>T c.1713C>T (p.Val571=) c.738C>T (p.Val246=) c.1452C>T (p.Val484=) n.2248C>T n.2456C>T | COSMIC |
1 | g.197427621T>A | CA344036917 | CRB1 | c.2296T>A (p.Trp766Arg) c.1177T>A (p.Trp393Arg) c.439T>A (p.Trp147Arg) c.1960T>A (p.Trp654Arg) n.197T>A c.2089T>A (p.Trp697Arg) c.2128+5665T>A (n.2128+5665T>A) n.2297T>A n.2505T>A c.1714T>A (p.Trp572Arg) c.739T>A (p.Trp247Arg) c.1453T>A (p.Trp485Arg) n.2249T>A n.2457T>A | |
1 | g.197427621T>C | CA344036918 | CRB1 | c.2296T>C (p.Trp766Arg) c.1177T>C (p.Trp393Arg) c.439T>C (p.Trp147Arg) c.1960T>C (p.Trp654Arg) n.197T>C c.2089T>C (p.Trp697Arg) c.2128+5665T>C (n.2128+5665T>C) n.2297T>C n.2505T>C c.1714T>C (p.Trp572Arg) c.739T>C (p.Trp247Arg) c.1453T>C (p.Trp485Arg) n.2249T>C n.2457T>C | |
1 | g.197427621T>G | CA344036919 | CRB1 | c.2296T>G (p.Trp766Gly) c.1177T>G (p.Trp393Gly) c.439T>G (p.Trp147Gly) c.1960T>G (p.Trp654Gly) n.197T>G c.2089T>G (p.Trp697Gly) c.2128+5665T>G (n.2128+5665T>G) n.2297T>G n.2505T>G c.1714T>G (p.Trp572Gly) c.739T>G (p.Trp247Gly) c.1453T>G (p.Trp485Gly) n.2249T>G n.2457T>G | |
1 | g.197427622G>A | CA344036920 | CRB1 | c.2297G>A (p.Trp766Ter) c.1178G>A (p.Trp393Ter) c.440G>A (p.Trp147Ter) c.1961G>A (p.Trp654Ter) n.198G>A c.2090G>A (p.Trp697Ter) c.2128+5666G>A (n.2128+5666G>A) n.2298G>A n.2506G>A c.1715G>A (p.Trp572Ter) c.740G>A (p.Trp247Ter) c.1454G>A (p.Trp485Ter) n.2250G>A n.2458G>A | ClinVar gnomAD v4 |
1 | g.197427622G>C | CA344036922 | CRB1 | c.2297G>C (p.Trp766Ser) c.1178G>C (p.Trp393Ser) c.440G>C (p.Trp147Ser) c.1961G>C (p.Trp654Ser) n.198G>C c.2090G>C (p.Trp697Ser) c.2128+5666G>C (n.2128+5666G>C) n.2298G>C n.2506G>C c.1715G>C (p.Trp572Ser) c.740G>C (p.Trp247Ser) c.1454G>C (p.Trp485Ser) n.2250G>C n.2458G>C | |
1 | g.197427622G>T | CA344036921 | CRB1 | c.2297G>T (p.Trp766Leu) c.1178G>T (p.Trp393Leu) c.440G>T (p.Trp147Leu) c.1961G>T (p.Trp654Leu) n.198G>T c.2090G>T (p.Trp697Leu) c.2128+5666G>T (n.2128+5666G>T) n.2298G>T n.2506G>T c.1715G>T (p.Trp572Leu) c.740G>T (p.Trp247Leu) c.1454G>T (p.Trp485Leu) n.2250G>T n.2458G>T | |
1 | g.197427623G>A | CA344036923 | CRB1 | c.2298G>A (p.Trp766Ter) c.1179G>A (p.Trp393Ter) c.441G>A (p.Trp147Ter) c.1962G>A (p.Trp654Ter) n.199G>A c.2091G>A (p.Trp697Ter) c.2128+5667G>A (n.2128+5667G>A) n.2299G>A n.2507G>A c.1716G>A (p.Trp572Ter) c.741G>A (p.Trp247Ter) c.1455G>A (p.Trp485Ter) n.2251G>A n.2459G>A | ClinVar dbSNP |
1 | g.197427623G>C | CA344036925 | CRB1 | c.2298G>C (p.Trp766Cys) c.1179G>C (p.Trp393Cys) c.441G>C (p.Trp147Cys) c.1962G>C (p.Trp654Cys) n.199G>C c.2091G>C (p.Trp697Cys) c.2128+5667G>C (n.2128+5667G>C) n.2299G>C n.2507G>C c.1716G>C (p.Trp572Cys) c.741G>C (p.Trp247Cys) c.1455G>C (p.Trp485Cys) n.2251G>C n.2459G>C | gnomAD v4 |
1 | g.197427623G= | CA1218066083 | CRB1 | c.2298G= (p.Trp766=) c.1179G= (p.Trp393=) c.441G= (p.Trp147=) c.1962G= (p.Trp654=) n.199G= c.2091G= (p.Trp697=) c.2128+5667G= (n.2128+5667G=) n.2299G= n.2507G= c.1716G= (p.Trp572=) c.741G= (p.Trp247=) c.1455G= (p.Trp485=) n.2251G= n.2459G= | |
1 | g.197427623G>T | CA344036924 | CRB1 | c.2298G>T (p.Trp766Cys) c.1179G>T (p.Trp393Cys) c.441G>T (p.Trp147Cys) c.1962G>T (p.Trp654Cys) n.199G>T c.2091G>T (p.Trp697Cys) c.2128+5667G>T (n.2128+5667G>T) n.2299G>T n.2507G>T c.1716G>T (p.Trp572Cys) c.741G>T (p.Trp247Cys) c.1455G>T (p.Trp485Cys) n.2251G>T n.2459G>T | |
1 | g.197427624C>A | CA344036926 | CRB1 | c.2299C>A (p.Leu767Ile) c.1180C>A (p.Leu394Ile) c.442C>A (p.Leu148Ile) c.1963C>A (p.Leu655Ile) n.200C>A c.2092C>A (p.Leu698Ile) c.2128+5668C>A (n.2128+5668C>A) n.2300C>A n.2508C>A c.1717C>A (p.Leu573Ile) c.742C>A (p.Leu248Ile) c.1456C>A (p.Leu486Ile) n.2252C>A n.2460C>A | |
1 | g.197427624C>G | CA344036927 | CRB1 | c.2299C>G (p.Leu767Val) c.1180C>G (p.Leu394Val) c.442C>G (p.Leu148Val) c.1963C>G (p.Leu655Val) n.200C>G c.2092C>G (p.Leu698Val) c.2128+5668C>G (n.2128+5668C>G) n.2300C>G n.2508C>G c.1717C>G (p.Leu573Val) c.742C>G (p.Leu248Val) c.1456C>G (p.Leu486Val) n.2252C>G n.2460C>G | |
1 | g.197427624C>T | CA422809069 | CRB1 | c.2299C>T (p.Leu767=) c.1180C>T (p.Leu394=) c.442C>T (p.Leu148=) c.1963C>T (p.Leu655=) n.200C>T c.2092C>T (p.Leu698=) c.2128+5668C>T (n.2128+5668C>T) n.2300C>T n.2508C>T c.1717C>T (p.Leu573=) c.742C>T (p.Leu248=) c.1456C>T (p.Leu486=) n.2252C>T n.2460C>T | |
1 | g.197427625del | CA2747247596 | CRB1 | c.2300del (p.Leu767GlnfsTer6) c.1181del (p.Leu394GlnfsTer6) c.443del (p.Leu148GlnfsTer6) c.1964del (p.Leu655GlnfsTer6) n.201del c.2093del (p.Leu698GlnfsTer6) c.2128+5669del (n.2128+5669del) n.2301del n.2509del c.1718del (p.Leu573GlnfsTer6) c.743del (p.Leu248GlnfsTer6) c.1457del (p.Leu486GlnfsTer6) n.2253del n.2461del | |
1 | g.197427625T>A | CA344036930 | CRB1 | c.2300T>A (p.Leu767Gln) c.1181T>A (p.Leu394Gln) c.443T>A (p.Leu148Gln) c.1964T>A (p.Leu655Gln) n.201T>A c.2093T>A (p.Leu698Gln) c.2128+5669T>A (n.2128+5669T>A) n.2301T>A n.2509T>A c.1718T>A (p.Leu573Gln) c.743T>A (p.Leu248Gln) c.1457T>A (p.Leu486Gln) n.2253T>A n.2461T>A | |
1 | g.197427625T>C | CA344036931 | CRB1 | c.2300T>C (p.Leu767Pro) c.1181T>C (p.Leu394Pro) c.443T>C (p.Leu148Pro) c.1964T>C (p.Leu655Pro) n.201T>C c.2093T>C (p.Leu698Pro) c.2128+5669T>C (n.2128+5669T>C) n.2301T>C n.2509T>C c.1718T>C (p.Leu573Pro) c.743T>C (p.Leu248Pro) c.1457T>C (p.Leu486Pro) n.2253T>C n.2461T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427625T>G | CA344036932 | CRB1 | c.2300T>G (p.Leu767Arg) c.1181T>G (p.Leu394Arg) c.443T>G (p.Leu148Arg) c.1964T>G (p.Leu655Arg) n.201T>G c.2093T>G (p.Leu698Arg) c.2128+5669T>G (n.2128+5669T>G) n.2301T>G n.2509T>G c.1718T>G (p.Leu573Arg) c.743T>G (p.Leu248Arg) c.1457T>G (p.Leu486Arg) n.2253T>G n.2461T>G | |
1 | g.197427625T= | CA1218066086 | CRB1 | c.2300T= (p.Leu767=) c.1181T= (p.Leu394=) c.443T= (p.Leu148=) c.1964T= (p.Leu655=) n.201T= c.2093T= (p.Leu698=) c.2128+5669T= (n.2128+5669T=) n.2301T= n.2509T= c.1718T= (p.Leu573=) c.743T= (p.Leu248=) c.1457T= (p.Leu486=) n.2253T= n.2461T= | |
1 | g.197427626A>C | CA422809071 | CRB1 | c.2301A>C (p.Leu767=) c.1182A>C (p.Leu394=) c.444A>C (p.Leu148=) c.1965A>C (p.Leu655=) n.202A>C c.2094A>C (p.Leu698=) c.2128+5670A>C (n.2128+5670A>C) n.2302A>C n.2510A>C c.1719A>C (p.Leu573=) c.744A>C (p.Leu248=) c.1458A>C (p.Leu486=) n.2254A>C n.2462A>C | |
1 | g.197427626A>G | CA422809072 | CRB1 | c.2301A>G (p.Leu767=) c.1182A>G (p.Leu394=) c.444A>G (p.Leu148=) c.1965A>G (p.Leu655=) n.202A>G c.2094A>G (p.Leu698=) c.2128+5670A>G (n.2128+5670A>G) n.2302A>G n.2510A>G c.1719A>G (p.Leu573=) c.744A>G (p.Leu248=) c.1458A>G (p.Leu486=) n.2254A>G n.2462A>G | ClinVar dbSNP |
1 | g.197427626A>T | CA422809076 | CRB1 | c.2301A>T (p.Leu767=) c.1182A>T (p.Leu394=) c.444A>T (p.Leu148=) c.1965A>T (p.Leu655=) n.202A>T c.2094A>T (p.Leu698=) c.2128+5670A>T (n.2128+5670A>T) n.2302A>T n.2510A>T c.1719A>T (p.Leu573=) c.744A>T (p.Leu248=) c.1458A>T (p.Leu486=) n.2254A>T n.2462A>T | |
1 | g.197427627G>A | CA344036933 | CRB1 | c.2302G>A (p.Glu768Lys) c.1183G>A (p.Glu395Lys) c.445G>A (p.Glu149Lys) c.1966G>A (p.Glu656Lys) n.203G>A c.2095G>A (p.Glu699Lys) c.2128+5671G>A (n.2128+5671G>A) n.2303G>A n.2511G>A c.1720G>A (p.Glu574Lys) c.745G>A (p.Glu249Lys) c.1459G>A (p.Glu487Lys) n.2255G>A n.2463G>A | |
1 | g.197427627G>C | CA1312093 | CRB1 | c.2302G>C (p.Glu768Gln) c.1183G>C (p.Glu395Gln) c.445G>C (p.Glu149Gln) c.1966G>C (p.Glu656Gln) n.203G>C c.2095G>C (p.Glu699Gln) c.2128+5671G>C (n.2128+5671G>C) n.2303G>C n.2511G>C c.1720G>C (p.Glu574Gln) c.745G>C (p.Glu249Gln) c.1459G>C (p.Glu487Gln) n.2255G>C n.2463G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427627G= | CA1218066087 | CRB1 | c.2302G= (p.Glu768=) c.1183G= (p.Glu395=) c.445G= (p.Glu149=) c.1966G= (p.Glu656=) n.203G= c.2095G= (p.Glu699=) c.2128+5671G= (n.2128+5671G=) n.2303G= n.2511G= c.1720G= (p.Glu574=) c.745G= (p.Glu249=) c.1459G= (p.Glu487=) n.2255G= n.2463G= | |
1 | g.197427627G>T | CA344036934 | CRB1 | c.2302G>T (p.Glu768Ter) c.1183G>T (p.Glu395Ter) c.445G>T (p.Glu149Ter) c.1966G>T (p.Glu656Ter) n.203G>T c.2095G>T (p.Glu699Ter) c.2128+5671G>T (n.2128+5671G>T) n.2303G>T n.2511G>T c.1720G>T (p.Glu574Ter) c.745G>T (p.Glu249Ter) c.1459G>T (p.Glu487Ter) n.2255G>T n.2463G>T | |
1 | g.197427628A= | CA1218066090 | CRB1 | c.2303A= (p.Glu768=) c.1184A= (p.Glu395=) c.446A= (p.Glu149=) c.1967A= (p.Glu656=) n.204A= c.2096A= (p.Glu699=) c.2128+5672A= (n.2128+5672A=) n.2304A= n.2512A= c.1721A= (p.Glu574=) c.746A= (p.Glu249=) c.1460A= (p.Glu487=) n.2256A= n.2464A= | |
1 | g.197427628A>C | CA344036935 | CRB1 | c.2303A>C (p.Glu768Ala) c.1184A>C (p.Glu395Ala) c.446A>C (p.Glu149Ala) c.1967A>C (p.Glu656Ala) n.204A>C c.2096A>C (p.Glu699Ala) c.2128+5672A>C (n.2128+5672A>C) n.2304A>C n.2512A>C c.1721A>C (p.Glu574Ala) c.746A>C (p.Glu249Ala) c.1460A>C (p.Glu487Ala) n.2256A>C n.2464A>C | |
1 | g.197427628A>G | CA1312094 | CRB1 | c.2303A>G (p.Glu768Gly) c.1184A>G (p.Glu395Gly) c.446A>G (p.Glu149Gly) c.1967A>G (p.Glu656Gly) n.204A>G c.2096A>G (p.Glu699Gly) c.2128+5672A>G (n.2128+5672A>G) n.2304A>G n.2512A>G c.1721A>G (p.Glu574Gly) c.746A>G (p.Glu249Gly) c.1460A>G (p.Glu487Gly) n.2256A>G n.2464A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427628A>T | CA344036936 | CRB1 | c.2303A>T (p.Glu768Val) c.1184A>T (p.Glu395Val) c.446A>T (p.Glu149Val) c.1967A>T (p.Glu656Val) n.204A>T c.2096A>T (p.Glu699Val) c.2128+5672A>T (n.2128+5672A>T) n.2304A>T n.2512A>T c.1721A>T (p.Glu574Val) c.746A>T (p.Glu249Val) c.1460A>T (p.Glu487Val) n.2256A>T n.2464A>T | |
1 | g.197427629G>A | CA422809083 | CRB1 | c.2304G>A (p.Glu768=) c.1185G>A (p.Glu395=) c.447G>A (p.Glu149=) c.1968G>A (p.Glu656=) n.205G>A c.2097G>A (p.Glu699=) c.2128+5673G>A (n.2128+5673G>A) n.2305G>A n.2513G>A c.1722G>A (p.Glu574=) c.747G>A (p.Glu249=) c.1461G>A (p.Glu487=) n.2257G>A n.2465G>A | |
1 | g.197427629G>C | CA344036937 | CRB1 | c.2304G>C (p.Glu768Asp) c.1185G>C (p.Glu395Asp) c.447G>C (p.Glu149Asp) c.1968G>C (p.Glu656Asp) n.205G>C c.2097G>C (p.Glu699Asp) c.2128+5673G>C (n.2128+5673G>C) n.2305G>C n.2513G>C c.1722G>C (p.Glu574Asp) c.747G>C (p.Glu249Asp) c.1461G>C (p.Glu487Asp) n.2257G>C n.2465G>C | |
1 | g.197427629G>T | CA344036938 | CRB1 | c.2304G>T (p.Glu768Asp) c.1185G>T (p.Glu395Asp) c.447G>T (p.Glu149Asp) c.1968G>T (p.Glu656Asp) n.205G>T c.2097G>T (p.Glu699Asp) c.2128+5673G>T (n.2128+5673G>T) n.2305G>T n.2513G>T c.1722G>T (p.Glu574Asp) c.747G>T (p.Glu249Asp) c.1461G>T (p.Glu487Asp) n.2257G>T n.2465G>T | |
1 | g.197427630C>A | CA344036939 | CRB1 | c.2305C>A (p.Arg769Ser) c.1186C>A (p.Arg396Ser) c.448C>A (p.Arg150Ser) c.1969C>A (p.Arg657Ser) n.206C>A c.2098C>A (p.Arg700Ser) c.2128+5674C>A (n.2128+5674C>A) n.2306C>A n.2514C>A c.1723C>A (p.Arg575Ser) c.748C>A (p.Arg250Ser) c.1462C>A (p.Arg488Ser) n.2258C>A n.2466C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427630C= | CA1148301556 | CRB1 | c.2305C= (p.Arg769=) c.1186C= (p.Arg396=) c.448C= (p.Arg150=) c.1969C= (p.Arg657=) n.206C= c.2098C= (p.Arg700=) c.2128+5674C= (n.2128+5674C=) n.2306C= n.2514C= c.1723C= (p.Arg575=) c.748C= (p.Arg250=) c.1462C= (p.Arg488=) n.2258C= n.2466C= | |
1 | g.197427630C>G | CA344036940 | CRB1 | c.2305C>G (p.Arg769Gly) c.1186C>G (p.Arg396Gly) c.448C>G (p.Arg150Gly) c.1969C>G (p.Arg657Gly) n.206C>G c.2098C>G (p.Arg700Gly) c.2128+5674C>G (n.2128+5674C>G) n.2306C>G n.2514C>G c.1723C>G (p.Arg575Gly) c.748C>G (p.Arg250Gly) c.1462C>G (p.Arg488Gly) n.2258C>G n.2466C>G | gnomAD v4 |
1 | g.197427630C>T | CA1312095 | CRB1 | c.2305C>T (p.Arg769Cys) c.1186C>T (p.Arg396Cys) c.448C>T (p.Arg150Cys) c.1969C>T (p.Arg657Cys) n.206C>T c.2098C>T (p.Arg700Cys) c.2128+5674C>T (n.2128+5674C>T) n.2306C>T n.2514C>T c.1723C>T (p.Arg575Cys) c.748C>T (p.Arg250Cys) c.1462C>T (p.Arg488Cys) n.2258C>T n.2466C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197427631G>A | CA179934 | CRB1 | c.2306G>A (p.Arg769His) c.1187G>A (p.Arg396His) c.449G>A (p.Arg150His) c.1970G>A (p.Arg657His) n.207G>A c.2099G>A (p.Arg700His) c.2128+5675G>A (n.2128+5675G>A) n.2307G>A n.2515G>A c.1724G>A (p.Arg575His) c.749G>A (p.Arg250His) c.1463G>A (p.Arg488His) n.2259G>A n.2467G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427631G>C | CA344036941 | CRB1 | c.2306G>C (p.Arg769Pro) c.1187G>C (p.Arg396Pro) c.449G>C (p.Arg150Pro) c.1970G>C (p.Arg657Pro) n.207G>C c.2099G>C (p.Arg700Pro) c.2128+5675G>C (n.2128+5675G>C) n.2307G>C n.2515G>C c.1724G>C (p.Arg575Pro) c.749G>C (p.Arg250Pro) c.1463G>C (p.Arg488Pro) n.2259G>C n.2467G>C | ClinVar dbSNP |
1 | g.197427631G= | CA1140762942 | CRB1 | c.2306G= (p.Arg769=) c.1187G= (p.Arg396=) c.449G= (p.Arg150=) c.1970G= (p.Arg657=) n.207G= c.2099G= (p.Arg700=) c.2128+5675G= (n.2128+5675G=) n.2307G= n.2515G= c.1724G= (p.Arg575=) c.749G= (p.Arg250=) c.1463G= (p.Arg488=) n.2259G= n.2467G= | |
1 | g.197427631G>T | CA344036942 | CRB1 | c.2306G>T (p.Arg769Leu) c.1187G>T (p.Arg396Leu) c.449G>T (p.Arg150Leu) c.1970G>T (p.Arg657Leu) n.207G>T c.2099G>T (p.Arg700Leu) c.2128+5675G>T (n.2128+5675G>T) n.2307G>T n.2515G>T c.1724G>T (p.Arg575Leu) c.749G>T (p.Arg250Leu) c.1463G>T (p.Arg488Leu) n.2259G>T n.2467G>T | |
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.197427631_197427632insACA | CA2747247611 | CRB1 | c.2306_2307insACA (p.Arg769_Gly770insHis) c.1187_1188insACA (p.Arg396_Gly397insHis) c.449_450insACA (p.Arg150_Gly151insHis) c.1970_1971insACA (p.Arg657_Gly658insHis) n.207_208insACA c.2099_2100insACA (p.Arg700_Gly701insHis) c.2128+5675_2128+5676insACA (n.2128+5675_2128+5676insACA) n.2307_2308insACA n.2515_2516insACA c.1724_1725insACA (p.Arg575_Gly576insHis) c.749_750insACA (p.Arg250_Gly251insHis) c.1463_1464insACA (p.Arg488_Gly489insHis) n.2259_2260insACA n.2467_2468insACA | |
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 | 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 | |
1 | g.197427645A>G | CA344036964 | CRB1 | c.2320A>G (p.Met774Val) c.1201A>G (p.Met401Val) c.463A>G (p.Met155Val) c.1984A>G (p.Met662Val) n.221A>G c.2113A>G (p.Met705Val) c.2128+5689A>G (n.2128+5689A>G) n.2321A>G n.2529A>G c.1738A>G (p.Met580Val) c.763A>G (p.Met255Val) c.1477A>G (p.Met493Val) n.2273A>G n.2481A>G | |
1 | g.197427645A>T | CA344036965 | CRB1 | c.2320A>T (p.Met774Leu) c.1201A>T (p.Met401Leu) c.463A>T (p.Met155Leu) c.1984A>T (p.Met662Leu) n.221A>T c.2113A>T (p.Met705Leu) c.2128+5689A>T (n.2128+5689A>T) n.2321A>T n.2529A>T c.1738A>T (p.Met580Leu) c.763A>T (p.Met255Leu) c.1477A>T (p.Met493Leu) n.2273A>T n.2481A>T | |
1 | g.197427646T>A | CA344036966 | CRB1 | c.2321T>A (p.Met774Lys) c.1202T>A (p.Met401Lys) c.464T>A (p.Met155Lys) c.1985T>A (p.Met662Lys) n.222T>A c.2114T>A (p.Met705Lys) c.2128+5690T>A (n.2128+5690T>A) n.2322T>A n.2530T>A c.1739T>A (p.Met580Lys) c.764T>A (p.Met255Lys) c.1478T>A (p.Met493Lys) n.2274T>A n.2482T>A | |
1 | g.197427646T>C | CA344036967 | CRB1 | c.2321T>C (p.Met774Thr) c.1202T>C (p.Met401Thr) c.464T>C (p.Met155Thr) c.1985T>C (p.Met662Thr) n.222T>C c.2114T>C (p.Met705Thr) c.2128+5690T>C (n.2128+5690T>C) n.2322T>C n.2530T>C c.1739T>C (p.Met580Thr) c.764T>C (p.Met255Thr) c.1478T>C (p.Met493Thr) n.2274T>C n.2482T>C | |
1 | g.197427646T>G | CA344036968 | CRB1 | c.2321T>G (p.Met774Arg) c.1202T>G (p.Met401Arg) c.464T>G (p.Met155Arg) c.1985T>G (p.Met662Arg) n.222T>G c.2114T>G (p.Met705Arg) c.2128+5690T>G (n.2128+5690T>G) n.2322T>G n.2530T>G c.1739T>G (p.Met580Arg) c.764T>G (p.Met255Arg) c.1478T>G (p.Met493Arg) n.2274T>G n.2482T>G | |
1 | g.197427647G>A | CA1312101 | CRB1 | c.2322G>A (p.Met774Ile) c.1203G>A (p.Met401Ile) c.465G>A (p.Met155Ile) c.1986G>A (p.Met662Ile) n.223G>A c.2115G>A (p.Met705Ile) c.2128+5691G>A (n.2128+5691G>A) n.2323G>A n.2531G>A c.1740G>A (p.Met580Ile) c.765G>A (p.Met255Ile) c.1479G>A (p.Met493Ile) n.2275G>A n.2483G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197427647G>C | CA344036969 | CRB1 | c.2322G>C (p.Met774Ile) c.1203G>C (p.Met401Ile) c.465G>C (p.Met155Ile) c.1986G>C (p.Met662Ile) n.223G>C c.2115G>C (p.Met705Ile) c.2128+5691G>C (n.2128+5691G>C) n.2323G>C n.2531G>C c.1740G>C (p.Met580Ile) c.765G>C (p.Met255Ile) c.1479G>C (p.Met493Ile) n.2275G>C n.2483G>C | gnomAD v4 |
1 | g.197427647G= | CA1147568552 | CRB1 | c.2322G= (p.Met774=) c.1203G= (p.Met401=) c.465G= (p.Met155=) c.1986G= (p.Met662=) n.223G= c.2115G= (p.Met705=) c.2128+5691G= (n.2128+5691G=) n.2323G= n.2531G= c.1740G= (p.Met580=) c.765G= (p.Met255=) c.1479G= (p.Met493=) n.2275G= n.2483G= | |
1 | g.197427647G>T | CA344036970 | CRB1 | c.2322G>T (p.Met774Ile) c.1203G>T (p.Met401Ile) c.465G>T (p.Met155Ile) c.1986G>T (p.Met662Ile) n.223G>T c.2115G>T (p.Met705Ile) c.2128+5691G>T (n.2128+5691G>T) n.2323G>T n.2531G>T c.1740G>T (p.Met580Ile) c.765G>T (p.Met255Ile) c.1479G>T (p.Met493Ile) n.2275G>T n.2483G>T | |
1 | g.197427648C>A | CA344036971 | CRB1 | c.2323C>A (p.Leu775Met) c.1204C>A (p.Leu402Met) c.466C>A (p.Leu156Met) c.1987C>A (p.Leu663Met) n.224C>A c.2116C>A (p.Leu706Met) c.2128+5692C>A (n.2128+5692C>A) n.2324C>A n.2532C>A c.1741C>A (p.Leu581Met) c.766C>A (p.Leu256Met) c.1480C>A (p.Leu494Met) n.2276C>A n.2484C>A | |
1 | g.197427648C>G | CA344036972 | CRB1 | c.2323C>G (p.Leu775Val) c.1204C>G (p.Leu402Val) c.466C>G (p.Leu156Val) c.1987C>G (p.Leu663Val) n.224C>G c.2116C>G (p.Leu706Val) c.2128+5692C>G (n.2128+5692C>G) n.2324C>G n.2532C>G c.1741C>G (p.Leu581Val) c.766C>G (p.Leu256Val) c.1480C>G (p.Leu494Val) n.2276C>G n.2484C>G | |
1 | g.197427648C>T | CA422809142 | CRB1 | c.2323C>T (p.Leu775=) c.1204C>T (p.Leu402=) c.466C>T (p.Leu156=) c.1987C>T (p.Leu663=) n.224C>T c.2116C>T (p.Leu706=) c.2128+5692C>T (n.2128+5692C>T) n.2324C>T n.2532C>T c.1741C>T (p.Leu581=) c.766C>T (p.Leu256=) c.1480C>T (p.Leu494=) n.2276C>T n.2484C>T | |
1 | g.197427649T>A | CA344036973 | CRB1 | c.2324T>A (p.Leu775Gln) c.1205T>A (p.Leu402Gln) c.467T>A (p.Leu156Gln) c.1988T>A (p.Leu663Gln) n.225T>A c.2117T>A (p.Leu706Gln) c.2128+5693T>A (n.2128+5693T>A) n.2325T>A n.2533T>A c.1742T>A (p.Leu581Gln) c.767T>A (p.Leu256Gln) c.1481T>A (p.Leu494Gln) n.2277T>A n.2485T>A | |
1 | g.197427649T>C | CA344036975 | CRB1 | c.2324T>C (p.Leu775Pro) c.1205T>C (p.Leu402Pro) c.467T>C (p.Leu156Pro) c.1988T>C (p.Leu663Pro) n.225T>C c.2117T>C (p.Leu706Pro) c.2128+5693T>C (n.2128+5693T>C) n.2325T>C n.2533T>C c.1742T>C (p.Leu581Pro) c.767T>C (p.Leu256Pro) c.1481T>C (p.Leu494Pro) n.2277T>C n.2485T>C | |
1 | g.197427649T>G | CA344036974 | CRB1 | c.2324T>G (p.Leu775Arg) c.1205T>G (p.Leu402Arg) c.467T>G (p.Leu156Arg) c.1988T>G (p.Leu663Arg) n.225T>G c.2117T>G (p.Leu706Arg) c.2128+5693T>G (n.2128+5693T>G) n.2325T>G n.2533T>G c.1742T>G (p.Leu581Arg) c.767T>G (p.Leu256Arg) c.1481T>G (p.Leu494Arg) n.2277T>G n.2485T>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427649T= | CA1218066125 | CRB1 | c.2324T= (p.Leu775=) c.1205T= (p.Leu402=) c.467T= (p.Leu156=) c.1988T= (p.Leu663=) n.225T= c.2117T= (p.Leu706=) c.2128+5693T= (n.2128+5693T=) n.2325T= n.2533T= c.1742T= (p.Leu581=) c.767T= (p.Leu256=) c.1481T= (p.Leu494=) n.2277T= n.2485T= | |
1 | g.197427650G>A | CA422809147 | CRB1 | c.2325G>A (p.Leu775=) c.1206G>A (p.Leu402=) c.468G>A (p.Leu156=) c.1989G>A (p.Leu663=) n.226G>A c.2118G>A (p.Leu706=) c.2128+5694G>A (n.2128+5694G>A) n.2326G>A n.2534G>A c.1743G>A (p.Leu581=) c.768G>A (p.Leu256=) c.1482G>A (p.Leu494=) n.2278G>A n.2486G>A | gnomAD v4 |
1 | g.197427650G>C | CA422809148 | CRB1 | c.2325G>C (p.Leu775=) c.1206G>C (p.Leu402=) c.468G>C (p.Leu156=) c.1989G>C (p.Leu663=) n.226G>C c.2118G>C (p.Leu706=) c.2128+5694G>C (n.2128+5694G>C) n.2326G>C n.2534G>C c.1743G>C (p.Leu581=) c.768G>C (p.Leu256=) c.1482G>C (p.Leu494=) n.2278G>C n.2486G>C | |
1 | g.197427650G>T | CA422809150 | CRB1 | c.2325G>T (p.Leu775=) c.1206G>T (p.Leu402=) c.468G>T (p.Leu156=) c.1989G>T (p.Leu663=) n.226G>T c.2118G>T (p.Leu706=) c.2128+5694G>T (n.2128+5694G>T) n.2326G>T n.2534G>T c.1743G>T (p.Leu581=) c.768G>T (p.Leu256=) c.1482G>T (p.Leu494=) n.2278G>T n.2486G>T | gnomAD v4 |
1 | g.197427650_197427657delinsGACTCCAA | CA1218066129 | CRB1 | c.2325_2332delinsGACTCCAA (p.Leu775=) c.1206_1213delinsGACTCCAA (p.Leu402=) c.468_475delinsGACTCCAA (p.Leu156=) c.1989_1996delinsGACTCCAA (p.Leu663=) n.226_233delinsGACTCCAA c.2118_2125delinsGACTCCAA (p.Leu706=) c.2128+5694_2128+5701delinsGACTCCAA (n.2128+5694_2128+5701delinsGACTCCAA) n.2326_2333delinsGACTCCAA n.2534_2541delinsGACTCCAA c.1743_1750delinsGACTCCAA (p.Leu581=) c.768_775delinsGACTCCAA (p.Leu256=) c.1482_1489delinsGACTCCAA (p.Leu494=) n.2278_2285delinsGACTCCAA n.2486_2493delinsGACTCCAA | |
1 | g.197427651A>C | CA344036976 | CRB1 | c.2326A>C (p.Thr776Pro) c.1207A>C (p.Thr403Pro) c.469A>C (p.Thr157Pro) c.1990A>C (p.Thr664Pro) n.227A>C c.2119A>C (p.Thr707Pro) c.2128+5695A>C (n.2128+5695A>C) n.2327A>C n.2535A>C c.1744A>C (p.Thr582Pro) c.769A>C (p.Thr257Pro) c.1483A>C (p.Thr495Pro) n.2279A>C n.2487A>C | |
1 | g.197427651A>G | CA344036977 | CRB1 | c.2326A>G (p.Thr776Ala) c.1207A>G (p.Thr403Ala) c.469A>G (p.Thr157Ala) c.1990A>G (p.Thr664Ala) n.227A>G c.2119A>G (p.Thr707Ala) c.2128+5695A>G (n.2128+5695A>G) n.2327A>G n.2535A>G c.1744A>G (p.Thr582Ala) c.769A>G (p.Thr257Ala) c.1483A>G (p.Thr495Ala) n.2279A>G n.2487A>G | |
1 | g.197427651A>T | CA344036978 | CRB1 | c.2326A>T (p.Thr776Ser) c.1207A>T (p.Thr403Ser) c.469A>T (p.Thr157Ser) c.1990A>T (p.Thr664Ser) n.227A>T c.2119A>T (p.Thr707Ser) c.2128+5695A>T (n.2128+5695A>T) n.2327A>T n.2535A>T c.1744A>T (p.Thr582Ser) c.769A>T (p.Thr257Ser) c.1483A>T (p.Thr495Ser) n.2279A>T n.2487A>T | |
1 | g.197427655_197427661del | CA236376 | CRB1 | c.2330_2336del (p.Pro777LeufsTer4) c.1211_1217del (p.Pro404LeufsTer4) c.473_479del (p.Pro158LeufsTer4) c.1994_2000del (p.Pro665LeufsTer4) n.231_237del c.2123_2129del (p.Pro708LeufsTer4) c.2128+5699_2128+5705del (n.2128+5699_2128+5705del) n.2331_2337del n.2539_2545del c.1748_1754del (p.Pro583LeufsTer4) c.773_779del (p.Pro258LeufsTer4) c.1487_1493del (p.Pro496LeufsTer4) n.2283_2289del n.2491_2497del | ClinVar dbSNP |
1 | g.197427652C>A | CA344036981 | CRB1 | c.2327C>A (p.Thr776Asn) c.1208C>A (p.Thr403Asn) c.470C>A (p.Thr157Asn) c.1991C>A (p.Thr664Asn) n.228C>A c.2120C>A (p.Thr707Asn) c.2128+5696C>A (n.2128+5696C>A) n.2328C>A n.2536C>A c.1745C>A (p.Thr582Asn) c.770C>A (p.Thr257Asn) c.1484C>A (p.Thr495Asn) n.2280C>A n.2488C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197427652C= | CA1218066134 | CRB1 | c.2327C= (p.Thr776=) c.1208C= (p.Thr403=) c.470C= (p.Thr157=) c.1991C= (p.Thr664=) n.228C= c.2120C= (p.Thr707=) c.2128+5696C= (n.2128+5696C=) n.2328C= n.2536C= c.1745C= (p.Thr582=) c.770C= (p.Thr257=) c.1484C= (p.Thr495=) n.2280C= n.2488C= | |
1 | g.197427652C>G | CA344036979 | CRB1 | c.2327C>G (p.Thr776Ser) c.1208C>G (p.Thr403Ser) c.470C>G (p.Thr157Ser) c.1991C>G (p.Thr664Ser) n.228C>G c.2120C>G (p.Thr707Ser) c.2128+5696C>G (n.2128+5696C>G) n.2328C>G n.2536C>G c.1745C>G (p.Thr582Ser) c.770C>G (p.Thr257Ser) c.1484C>G (p.Thr495Ser) n.2280C>G n.2488C>G | |
1 | g.197427652C>T | CA344036980 | CRB1 | c.2327C>T (p.Thr776Ile) c.1208C>T (p.Thr403Ile) c.470C>T (p.Thr157Ile) c.1991C>T (p.Thr664Ile) n.228C>T c.2120C>T (p.Thr707Ile) c.2128+5696C>T (n.2128+5696C>T) n.2328C>T n.2536C>T c.1745C>T (p.Thr582Ile) c.770C>T (p.Thr257Ile) c.1484C>T (p.Thr495Ile) n.2280C>T n.2488C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197427653T>A | CA422809159 | CRB1 | c.2328T>A (p.Thr776=) c.1209T>A (p.Thr403=) c.471T>A (p.Thr157=) c.1992T>A (p.Thr664=) n.229T>A c.2121T>A (p.Thr707=) c.2128+5697T>A (n.2128+5697T>A) n.2329T>A n.2537T>A c.1746T>A (p.Thr582=) c.771T>A (p.Thr257=) c.1485T>A (p.Thr495=) n.2281T>A n.2489T>A | |
1 | g.197427653T>C | CA422809160 | CRB1 | c.2328T>C (p.Thr776=) c.1209T>C (p.Thr403=) c.471T>C (p.Thr157=) c.1992T>C (p.Thr664=) n.229T>C c.2121T>C (p.Thr707=) c.2128+5697T>C (n.2128+5697T>C) n.2329T>C n.2537T>C c.1746T>C (p.Thr582=) c.771T>C (p.Thr257=) c.1485T>C (p.Thr495=) n.2281T>C n.2489T>C | ClinVar |
1 | g.197427653T>G | CA422809161 | CRB1 | c.2328T>G (p.Thr776=) c.1209T>G (p.Thr403=) c.471T>G (p.Thr157=) c.1992T>G (p.Thr664=) n.229T>G c.2121T>G (p.Thr707=) c.2128+5697T>G (n.2128+5697T>G) n.2329T>G n.2537T>G c.1746T>G (p.Thr582=) c.771T>G (p.Thr257=) c.1485T>G (p.Thr495=) n.2281T>G n.2489T>G | |
1 | g.197427654C>A | CA344036982 | CRB1 | c.2329C>A (p.Pro777Thr) c.1210C>A (p.Pro404Thr) c.472C>A (p.Pro158Thr) c.1993C>A (p.Pro665Thr) n.230C>A c.2122C>A (p.Pro708Thr) c.2128+5698C>A (n.2128+5698C>A) n.2330C>A n.2538C>A c.1747C>A (p.Pro583Thr) c.772C>A (p.Pro258Thr) c.1486C>A (p.Pro496Thr) n.2282C>A n.2490C>A | |
1 | g.197427654C= | CA1218066136 | CRB1 | c.2329C= (p.Pro777=) c.1210C= (p.Pro404=) c.472C= (p.Pro158=) c.1993C= (p.Pro665=) n.230C= c.2122C= (p.Pro708=) c.2128+5698C= (n.2128+5698C=) n.2330C= n.2538C= c.1747C= (p.Pro583=) c.772C= (p.Pro258=) c.1486C= (p.Pro496=) n.2282C= n.2490C= | |
1 | g.197427654C>G | CA1312102 | CRB1 | c.2329C>G (p.Pro777Ala) c.1210C>G (p.Pro404Ala) c.472C>G (p.Pro158Ala) c.1993C>G (p.Pro665Ala) n.230C>G c.2122C>G (p.Pro708Ala) c.2128+5698C>G (n.2128+5698C>G) n.2330C>G n.2538C>G c.1747C>G (p.Pro583Ala) c.772C>G (p.Pro258Ala) c.1486C>G (p.Pro496Ala) n.2282C>G n.2490C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427654C>T | CA344036983 | CRB1 | c.2329C>T (p.Pro777Ser) c.1210C>T (p.Pro404Ser) c.472C>T (p.Pro158Ser) c.1993C>T (p.Pro665Ser) n.230C>T c.2122C>T (p.Pro708Ser) c.2128+5698C>T (n.2128+5698C>T) n.2330C>T n.2538C>T c.1747C>T (p.Pro583Ser) c.772C>T (p.Pro258Ser) c.1486C>T (p.Pro496Ser) n.2282C>T n.2490C>T | gnomAD v4 |
1 | g.197427655C>A | CA344036984 | CRB1 | c.2330C>A (p.Pro777Gln) c.1211C>A (p.Pro404Gln) c.473C>A (p.Pro158Gln) c.1994C>A (p.Pro665Gln) n.231C>A c.2123C>A (p.Pro708Gln) c.2128+5699C>A (n.2128+5699C>A) n.2331C>A n.2539C>A c.1748C>A (p.Pro583Gln) c.773C>A (p.Pro258Gln) c.1487C>A (p.Pro496Gln) n.2283C>A n.2491C>A | |
1 | g.197427655C= | CA1218066139 | CRB1 | c.2330C= (p.Pro777=) c.1211C= (p.Pro404=) c.473C= (p.Pro158=) c.1994C= (p.Pro665=) n.231C= c.2123C= (p.Pro708=) c.2128+5699C= (n.2128+5699C=) n.2331C= n.2539C= c.1748C= (p.Pro583=) c.773C= (p.Pro258=) c.1487C= (p.Pro496=) n.2283C= n.2491C= | |
1 | g.197427655C>G | CA344036985 | CRB1 | c.2330C>G (p.Pro777Arg) c.1211C>G (p.Pro404Arg) c.473C>G (p.Pro158Arg) c.1994C>G (p.Pro665Arg) n.231C>G c.2123C>G (p.Pro708Arg) c.2128+5699C>G (n.2128+5699C>G) n.2331C>G n.2539C>G c.1748C>G (p.Pro583Arg) c.773C>G (p.Pro258Arg) c.1487C>G (p.Pro496Arg) n.2283C>G n.2491C>G | |
1 | g.197427655C>T | CA10609329 | CRB1 | c.2330C>T (p.Pro777Leu) c.1211C>T (p.Pro404Leu) c.473C>T (p.Pro158Leu) c.1994C>T (p.Pro665Leu) n.231C>T c.2123C>T (p.Pro708Leu) c.2128+5699C>T (n.2128+5699C>T) n.2331C>T n.2539C>T c.1748C>T (p.Pro583Leu) c.773C>T (p.Pro258Leu) c.1487C>T (p.Pro496Leu) n.2283C>T n.2491C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197427656A>C | CA422809168 | CRB1 | c.2331A>C (p.Pro777=) c.1212A>C (p.Pro404=) c.474A>C (p.Pro158=) c.1995A>C (p.Pro665=) n.232A>C c.2124A>C (p.Pro708=) c.2128+5700A>C (n.2128+5700A>C) n.2332A>C n.2540A>C c.1749A>C (p.Pro583=) c.774A>C (p.Pro258=) c.1488A>C (p.Pro496=) n.2284A>C n.2492A>C | |
1 | g.197427656A>G | CA422809170 | CRB1 | c.2331A>G (p.Pro777=) c.1212A>G (p.Pro404=) c.474A>G (p.Pro158=) c.1995A>G (p.Pro665=) n.232A>G c.2124A>G (p.Pro708=) c.2128+5700A>G (n.2128+5700A>G) n.2332A>G n.2540A>G c.1749A>G (p.Pro583=) c.774A>G (p.Pro258=) c.1488A>G (p.Pro496=) n.2284A>G n.2492A>G | |
1 | g.197427656A>T | CA422809172 | CRB1 | c.2331A>T (p.Pro777=) c.1212A>T (p.Pro404=) c.474A>T (p.Pro158=) c.1995A>T (p.Pro665=) n.232A>T c.2124A>T (p.Pro708=) c.2128+5700A>T (n.2128+5700A>T) n.2332A>T n.2540A>T c.1749A>T (p.Pro583=) c.774A>T (p.Pro258=) c.1488A>T (p.Pro496=) n.2284A>T n.2492A>T | |
1 | g.197427657A= | CA1142382299 | CRB1 | c.2332A= (p.Asn778=) c.1213A= (p.Asn405=) c.475A= (p.Asn159=) c.1996A= (p.Asn666=) n.233A= c.2125A= (p.Asn709=) c.2128+5701A= (n.2128+5701A=) n.2333A= n.2541A= c.1750A= (p.Asn584=) c.775A= (p.Asn259=) c.1489A= (p.Asn497=) n.2285A= n.2493A= | |
1 | g.197427657A>C | CA344036986 | CRB1 | c.2332A>C (p.Asn778His) c.1213A>C (p.Asn405His) c.475A>C (p.Asn159His) c.1996A>C (p.Asn666His) n.233A>C c.2125A>C (p.Asn709His) c.2128+5701A>C (n.2128+5701A>C) n.2333A>C n.2541A>C c.1750A>C (p.Asn584His) c.775A>C (p.Asn259His) c.1489A>C (p.Asn497His) n.2285A>C n.2493A>C | |
1 | g.197427657A>G | CA1312103 | CRB1 | c.2332A>G (p.Asn778Asp) c.1213A>G (p.Asn405Asp) c.475A>G (p.Asn159Asp) c.1996A>G (p.Asn666Asp) n.233A>G c.2125A>G (p.Asn709Asp) c.2128+5701A>G (n.2128+5701A>G) n.2333A>G n.2541A>G c.1750A>G (p.Asn584Asp) c.775A>G (p.Asn259Asp) c.1489A>G (p.Asn497Asp) n.2285A>G n.2493A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427657A>T | CA35900696 | CRB1 | c.2332A>T (p.Asn778Tyr) c.1213A>T (p.Asn405Tyr) c.475A>T (p.Asn159Tyr) c.1996A>T (p.Asn666Tyr) n.233A>T c.2125A>T (p.Asn709Tyr) c.2128+5701A>T (n.2128+5701A>T) n.2333A>T n.2541A>T c.1750A>T (p.Asn584Tyr) c.775A>T (p.Asn259Tyr) c.1489A>T (p.Asn497Tyr) n.2285A>T n.2493A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427658A= | CA1218066144 | CRB1 | c.2333A= (p.Asn778=) c.1214A= (p.Asn405=) c.476A= (p.Asn159=) c.1997A= (p.Asn666=) n.234A= c.2126A= (p.Asn709=) c.2128+5702A= (n.2128+5702A=) n.2334A= n.2542A= c.1751A= (p.Asn584=) c.776A= (p.Asn259=) c.1490A= (p.Asn497=) n.2286A= n.2494A= | |
1 | g.197427658A>C | CA344036987 | CRB1 | c.2333A>C (p.Asn778Thr) c.1214A>C (p.Asn405Thr) c.476A>C (p.Asn159Thr) c.1997A>C (p.Asn666Thr) n.234A>C c.2126A>C (p.Asn709Thr) c.2128+5702A>C (n.2128+5702A>C) n.2334A>C n.2542A>C c.1751A>C (p.Asn584Thr) c.776A>C (p.Asn259Thr) c.1490A>C (p.Asn497Thr) n.2286A>C n.2494A>C | |
1 | g.197427658A>G | CA344036988 | CRB1 | c.2333A>G (p.Asn778Ser) c.1214A>G (p.Asn405Ser) c.476A>G (p.Asn159Ser) c.1997A>G (p.Asn666Ser) n.234A>G c.2126A>G (p.Asn709Ser) c.2128+5702A>G (n.2128+5702A>G) n.2334A>G n.2542A>G c.1751A>G (p.Asn584Ser) c.776A>G (p.Asn259Ser) c.1490A>G (p.Asn497Ser) n.2286A>G n.2494A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197427658A>T | CA344036989 | CRB1 | c.2333A>T (p.Asn778Ile) c.1214A>T (p.Asn405Ile) c.476A>T (p.Asn159Ile) c.1997A>T (p.Asn666Ile) n.234A>T c.2126A>T (p.Asn709Ile) c.2128+5702A>T (n.2128+5702A>T) n.2334A>T n.2542A>T c.1751A>T (p.Asn584Ile) c.776A>T (p.Asn259Ile) c.1490A>T (p.Asn497Ile) n.2286A>T n.2494A>T | gnomAD v4 |
1 | g.197427659C>A | CA344036990 | CRB1 | c.2334C>A (p.Asn778Lys) c.1215C>A (p.Asn405Lys) c.477C>A (p.Asn159Lys) c.1998C>A (p.Asn666Lys) n.235C>A c.2127C>A (p.Asn709Lys) c.2128+5703C>A (n.2128+5703C>A) n.2335C>A n.2543C>A c.1752C>A (p.Asn584Lys) c.777C>A (p.Asn259Lys) c.1491C>A (p.Asn497Lys) n.2287C>A n.2495C>A | |
1 | g.197427659C= | CA1218066145 | CRB1 | c.2334C= (p.Asn778=) c.1215C= (p.Asn405=) c.477C= (p.Asn159=) c.1998C= (p.Asn666=) n.235C= c.2127C= (p.Asn709=) c.2128+5703C= (n.2128+5703C=) n.2335C= n.2543C= c.1752C= (p.Asn584=) c.777C= (p.Asn259=) c.1491C= (p.Asn497=) n.2287C= n.2495C= | |
1 | g.197427659C>G | CA1312104 | CRB1 | c.2334C>G (p.Asn778Lys) c.1215C>G (p.Asn405Lys) c.477C>G (p.Asn159Lys) c.1998C>G (p.Asn666Lys) n.235C>G c.2127C>G (p.Asn709Lys) c.2128+5703C>G (n.2128+5703C>G) n.2335C>G n.2543C>G c.1752C>G (p.Asn584Lys) c.777C>G (p.Asn259Lys) c.1491C>G (p.Asn497Lys) n.2287C>G n.2495C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427659C>T | CA422809177 | CRB1 | c.2334C>T (p.Asn778=) c.1215C>T (p.Asn405=) c.477C>T (p.Asn159=) c.1998C>T (p.Asn666=) n.235C>T c.2127C>T (p.Asn709=) c.2128+5703C>T (n.2128+5703C>T) n.2335C>T n.2543C>T c.1752C>T (p.Asn584=) c.777C>T (p.Asn259=) c.1491C>T (p.Asn497=) n.2287C>T n.2495C>T | ClinVar dbSNP gnomAD v4 |
1 | g.197427660T>A | CA344036991 | CRB1 | c.2335T>A (p.Ser779Thr) c.1216T>A (p.Ser406Thr) c.478T>A (p.Ser160Thr) c.1999T>A (p.Ser667Thr) n.236T>A c.2128T>A (p.Ser710Thr) c.2128+5704T>A (n.2128+5704T>A) n.2336T>A n.2544T>A c.1753T>A (p.Ser585Thr) c.778T>A (p.Ser260Thr) c.1492T>A (p.Ser498Thr) n.2288T>A n.2496T>A | |
1 | g.197427660T>C | CA344036992 | CRB1 | c.2335T>C (p.Ser779Pro) c.1216T>C (p.Ser406Pro) c.478T>C (p.Ser160Pro) c.1999T>C (p.Ser667Pro) n.236T>C c.2128T>C (p.Ser710Pro) c.2128+5704T>C (n.2128+5704T>C) n.2336T>C n.2544T>C c.1753T>C (p.Ser585Pro) c.778T>C (p.Ser260Pro) c.1492T>C (p.Ser498Pro) n.2288T>C n.2496T>C | |
1 | g.197427660T>G | CA344036993 | CRB1 | c.2335T>G (p.Ser779Ala) c.1216T>G (p.Ser406Ala) c.478T>G (p.Ser160Ala) c.1999T>G (p.Ser667Ala) n.236T>G c.2128T>G (p.Ser710Ala) c.2128+5704T>G (n.2128+5704T>G) n.2336T>G n.2544T>G c.1753T>G (p.Ser585Ala) c.778T>G (p.Ser260Ala) c.1492T>G (p.Ser498Ala) n.2288T>G n.2496T>G | |
1 | g.197427661C>A | CA344036994 | CRB1 | c.2336C>A (p.Ser779Tyr) c.1217C>A (p.Ser406Tyr) c.479C>A (p.Ser160Tyr) c.2000C>A (p.Ser667Tyr) n.237C>A c.2129C>A (p.Ser710Tyr) c.2128+5705C>A (n.2128+5705C>A) n.2337C>A n.2545C>A c.1754C>A (p.Ser585Tyr) c.779C>A (p.Ser260Tyr) c.1493C>A (p.Ser498Tyr) n.2289C>A n.2497C>A | |
1 | g.197427661C>G | CA344036995 | CRB1 | c.2336C>G (p.Ser779Cys) c.1217C>G (p.Ser406Cys) c.479C>G (p.Ser160Cys) c.2000C>G (p.Ser667Cys) n.237C>G c.2129C>G (p.Ser710Cys) c.2128+5705C>G (n.2128+5705C>G) n.2337C>G n.2545C>G c.1754C>G (p.Ser585Cys) c.779C>G (p.Ser260Cys) c.1493C>G (p.Ser498Cys) n.2289C>G n.2497C>G | |
1 | g.197427661C>T | CA344036996 | CRB1 | c.2336C>T (p.Ser779Phe) c.1217C>T (p.Ser406Phe) c.479C>T (p.Ser160Phe) c.2000C>T (p.Ser667Phe) n.237C>T c.2129C>T (p.Ser710Phe) c.2128+5705C>T (n.2128+5705C>T) n.2337C>T n.2545C>T c.1754C>T (p.Ser585Phe) c.779C>T (p.Ser260Phe) c.1493C>T (p.Ser498Phe) n.2289C>T n.2497C>T | |
1 | g.197427662T>A | CA422809185 | CRB1 | c.2337T>A (p.Ser779=) c.1218T>A (p.Ser406=) c.480T>A (p.Ser160=) c.2001T>A (p.Ser667=) n.238T>A c.2130T>A (p.Ser710=) c.2128+5706T>A (n.2128+5706T>A) n.2338T>A n.2546T>A c.1755T>A (p.Ser585=) c.780T>A (p.Ser260=) c.1494T>A (p.Ser498=) n.2290T>A n.2498T>A | |
1 | g.197427662T>C | CA35900710 | CRB1 | c.2337T>C (p.Ser779=) c.1218T>C (p.Ser406=) c.480T>C (p.Ser160=) c.2001T>C (p.Ser667=) n.238T>C c.2130T>C (p.Ser710=) c.2128+5706T>C (n.2128+5706T>C) n.2338T>C n.2546T>C c.1755T>C (p.Ser585=) c.780T>C (p.Ser260=) c.1494T>C (p.Ser498=) n.2290T>C n.2498T>C | dbSNP gnomAD v4 |
1 | g.197427662T>G | CA422809188 | CRB1 | c.2337T>G (p.Ser779=) c.1218T>G (p.Ser406=) c.480T>G (p.Ser160=) c.2001T>G (p.Ser667=) n.238T>G c.2130T>G (p.Ser710=) c.2128+5706T>G (n.2128+5706T>G) n.2338T>G n.2546T>G c.1755T>G (p.Ser585=) c.780T>G (p.Ser260=) c.1494T>G (p.Ser498=) n.2290T>G n.2498T>G | |
1 | g.197427662T= | CA1218066147 | CRB1 | c.2337T= (p.Ser779=) c.1218T= (p.Ser406=) c.480T= (p.Ser160=) c.2001T= (p.Ser667=) n.238T= c.2130T= (p.Ser710=) c.2128+5706T= (n.2128+5706T=) n.2338T= n.2546T= c.1755T= (p.Ser585=) c.780T= (p.Ser260=) c.1494T= (p.Ser498=) n.2290T= n.2498T= | |
1 | g.197427663C>A | CA344036997 | CRB1 | c.2338C>A (p.Pro780Thr) c.1219C>A (p.Pro407Thr) c.481C>A (p.Pro161Thr) c.2002C>A (p.Pro668Thr) n.239C>A c.2131C>A (p.Pro711Thr) c.2128+5707C>A (n.2128+5707C>A) n.2339C>A n.2547C>A c.1756C>A (p.Pro586Thr) c.781C>A (p.Pro261Thr) c.1495C>A (p.Pro499Thr) n.2291C>A n.2499C>A | |
1 | g.197427663C>G | CA344036998 | CRB1 | c.2338C>G (p.Pro780Ala) c.1219C>G (p.Pro407Ala) c.481C>G (p.Pro161Ala) c.2002C>G (p.Pro668Ala) n.239C>G c.2131C>G (p.Pro711Ala) c.2128+5707C>G (n.2128+5707C>G) n.2339C>G n.2547C>G c.1756C>G (p.Pro586Ala) c.781C>G (p.Pro261Ala) c.1495C>G (p.Pro499Ala) n.2291C>G n.2499C>G | gnomAD v4 |
1 | g.197427663C>T | CA344036999 | CRB1 | c.2338C>T (p.Pro780Ser) c.1219C>T (p.Pro407Ser) c.481C>T (p.Pro161Ser) c.2002C>T (p.Pro668Ser) n.239C>T c.2131C>T (p.Pro711Ser) c.2128+5707C>T (n.2128+5707C>T) n.2339C>T n.2547C>T c.1756C>T (p.Pro586Ser) c.781C>T (p.Pro261Ser) c.1495C>T (p.Pro499Ser) n.2291C>T n.2499C>T | |
1 | g.197427664C>A | CA344037000 | CRB1 | c.2339C>A (p.Pro780His) c.1220C>A (p.Pro407His) c.482C>A (p.Pro161His) c.2003C>A (p.Pro668His) n.240C>A c.2132C>A (p.Pro711His) c.2128+5708C>A (n.2128+5708C>A) n.2340C>A n.2548C>A c.1757C>A (p.Pro586His) c.782C>A (p.Pro261His) c.1496C>A (p.Pro499His) n.2292C>A n.2500C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427664C= | CA1218066149 | CRB1 | c.2339C= (p.Pro780=) c.1220C= (p.Pro407=) c.482C= (p.Pro161=) c.2003C= (p.Pro668=) n.240C= c.2132C= (p.Pro711=) c.2128+5708C= (n.2128+5708C=) n.2340C= n.2548C= c.1757C= (p.Pro586=) c.782C= (p.Pro261=) c.1496C= (p.Pro499=) n.2292C= n.2500C= | |
1 | g.197427664C>G | CA344037001 | CRB1 | c.2339C>G (p.Pro780Arg) c.1220C>G (p.Pro407Arg) c.482C>G (p.Pro161Arg) c.2003C>G (p.Pro668Arg) n.240C>G c.2132C>G (p.Pro711Arg) c.2128+5708C>G (n.2128+5708C>G) n.2340C>G n.2548C>G c.1757C>G (p.Pro586Arg) c.782C>G (p.Pro261Arg) c.1496C>G (p.Pro499Arg) n.2292C>G n.2500C>G | dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.197427664C>T | CA344037002 | CRB1 | c.2339C>T (p.Pro780Leu) c.1220C>T (p.Pro407Leu) c.482C>T (p.Pro161Leu) c.2003C>T (p.Pro668Leu) n.240C>T c.2132C>T (p.Pro711Leu) c.2128+5708C>T (n.2128+5708C>T) n.2340C>T n.2548C>T c.1757C>T (p.Pro586Leu) c.782C>T (p.Pro261Leu) c.1496C>T (p.Pro499Leu) n.2292C>T n.2500C>T | ClinVar dbSNP gnomAD v4 |
1 | g.197427664_197427665insAGT | CA2747247626 | CRB1 | c.2339_2340insAGT (p.Pro780_Lys781insVal) c.1220_1221insAGT (p.Pro407_Lys408insVal) c.482_483insAGT (p.Pro161_Lys162insVal) c.2003_2004insAGT (p.Pro668_Lys669insVal) n.240_241insAGT c.2132_2133insAGT (p.Pro711_Lys712insVal) c.2128+5708_2128+5709insAGT (n.2128+5708_2128+5709insAGT) n.2340_2341insAGT n.2548_2549insAGT c.1757_1758insAGT (p.Pro586_Lys587insVal) c.782_783insAGT (p.Pro261_Lys262insVal) c.1496_1497insAGT (p.Pro499_Lys500insVal) n.2292_2293insAGT n.2500_2501insAGT | |
1 | g.197427665C>A | CA422809195 | CRB1 | c.2340C>A (p.Pro780=) c.1221C>A (p.Pro407=) c.483C>A (p.Pro161=) c.2004C>A (p.Pro668=) n.241C>A c.2133C>A (p.Pro711=) c.2128+5709C>A (n.2128+5709C>A) n.2341C>A n.2549C>A c.1758C>A (p.Pro586=) c.783C>A (p.Pro261=) c.1497C>A (p.Pro499=) n.2293C>A n.2501C>A | |
1 | g.197427665C>G | CA422809198 | CRB1 | c.2340C>G (p.Pro780=) c.1221C>G (p.Pro407=) c.483C>G (p.Pro161=) c.2004C>G (p.Pro668=) n.241C>G c.2133C>G (p.Pro711=) c.2128+5709C>G (n.2128+5709C>G) n.2341C>G n.2549C>G c.1758C>G (p.Pro586=) c.783C>G (p.Pro261=) c.1497C>G (p.Pro499=) n.2293C>G n.2501C>G | gnomAD v4 |
1 | g.197427665C>T | CA422809197 | CRB1 | c.2340C>T (p.Pro780=) c.1221C>T (p.Pro407=) c.483C>T (p.Pro161=) c.2004C>T (p.Pro668=) n.241C>T c.2133C>T (p.Pro711=) c.2128+5709C>T (n.2128+5709C>T) n.2341C>T n.2549C>T c.1758C>T (p.Pro586=) c.783C>T (p.Pro261=) c.1497C>T (p.Pro499=) n.2293C>T n.2501C>T | ClinVar dbSNP |
1 | g.197427666A>C | CA344037003 | CRB1 | c.2341A>C (p.Lys781Gln) c.1222A>C (p.Lys408Gln) c.484A>C (p.Lys162Gln) c.2005A>C (p.Lys669Gln) n.242A>C c.2134A>C (p.Lys712Gln) c.2128+5710A>C (n.2128+5710A>C) n.2342A>C n.2550A>C c.1759A>C (p.Lys587Gln) c.784A>C (p.Lys262Gln) c.1498A>C (p.Lys500Gln) n.2294A>C n.2502A>C | |
1 | g.197427666A>G | CA344037005 | CRB1 | c.2341A>G (p.Lys781Glu) c.1222A>G (p.Lys408Glu) c.484A>G (p.Lys162Glu) c.2005A>G (p.Lys669Glu) n.242A>G c.2134A>G (p.Lys712Glu) c.2128+5710A>G (n.2128+5710A>G) n.2342A>G n.2550A>G c.1759A>G (p.Lys587Glu) c.784A>G (p.Lys262Glu) c.1498A>G (p.Lys500Glu) n.2294A>G n.2502A>G | |
1 | g.197427666A>T | CA344037004 | CRB1 | c.2341A>T (p.Lys781Ter) c.1222A>T (p.Lys408Ter) c.484A>T (p.Lys162Ter) c.2005A>T (p.Lys669Ter) n.242A>T c.2134A>T (p.Lys712Ter) c.2128+5710A>T (n.2128+5710A>T) n.2342A>T n.2550A>T c.1759A>T (p.Lys587Ter) c.784A>T (p.Lys262Ter) c.1498A>T (p.Lys500Ter) n.2294A>T n.2502A>T | |
1 | g.197427667A>C | CA344037006 | CRB1 | c.2342A>C (p.Lys781Thr) c.1223A>C (p.Lys408Thr) c.485A>C (p.Lys162Thr) c.2006A>C (p.Lys669Thr) n.243A>C c.2135A>C (p.Lys712Thr) c.2128+5711A>C (n.2128+5711A>C) n.2343A>C n.2551A>C c.1760A>C (p.Lys587Thr) c.785A>C (p.Lys262Thr) c.1499A>C (p.Lys500Thr) n.2295A>C n.2503A>C | |
1 | g.197427667A>G | CA344037007 | CRB1 | c.2342A>G (p.Lys781Arg) c.1223A>G (p.Lys408Arg) c.485A>G (p.Lys162Arg) c.2006A>G (p.Lys669Arg) n.243A>G c.2135A>G (p.Lys712Arg) c.2128+5711A>G (n.2128+5711A>G) n.2343A>G n.2551A>G c.1760A>G (p.Lys587Arg) c.785A>G (p.Lys262Arg) c.1499A>G (p.Lys500Arg) n.2295A>G n.2503A>G | |
1 | g.197427667A>T | CA344037008 | CRB1 | c.2342A>T (p.Lys781Ile) c.1223A>T (p.Lys408Ile) c.485A>T (p.Lys162Ile) c.2006A>T (p.Lys669Ile) n.243A>T c.2135A>T (p.Lys712Ile) c.2128+5711A>T (n.2128+5711A>T) n.2343A>T n.2551A>T c.1760A>T (p.Lys587Ile) c.785A>T (p.Lys262Ile) c.1499A>T (p.Lys500Ile) n.2295A>T n.2503A>T | |
1 | g.197427668A= | CA1218066153 | CRB1 | c.2343A= (p.Lys781=) c.1224A= (p.Lys408=) c.486A= (p.Lys162=) c.2007A= (p.Lys669=) n.244A= c.2136A= (p.Lys712=) c.2128+5712A= (n.2128+5712A=) n.2344A= n.2552A= c.1761A= (p.Lys587=) c.786A= (p.Lys262=) c.1500A= (p.Lys500=) n.2296A= n.2504A= | |
1 | g.197427668A>C | CA344037009 | CRB1 | c.2343A>C (p.Lys781Asn) c.1224A>C (p.Lys408Asn) c.486A>C (p.Lys162Asn) c.2007A>C (p.Lys669Asn) n.244A>C c.2136A>C (p.Lys712Asn) c.2128+5712A>C (n.2128+5712A>C) n.2344A>C n.2552A>C c.1761A>C (p.Lys587Asn) c.786A>C (p.Lys262Asn) c.1500A>C (p.Lys500Asn) n.2296A>C n.2504A>C | |
1 | g.197427668A>G | CA422809209 | CRB1 | c.2343A>G (p.Lys781=) c.1224A>G (p.Lys408=) c.486A>G (p.Lys162=) c.2007A>G (p.Lys669=) n.244A>G c.2136A>G (p.Lys712=) c.2128+5712A>G (n.2128+5712A>G) n.2344A>G n.2552A>G c.1761A>G (p.Lys587=) c.786A>G (p.Lys262=) c.1500A>G (p.Lys500=) n.2296A>G n.2504A>G | ClinVar dbSNP gnomAD v4 |
1 | g.197427668A>T | CA344037010 | CRB1 | c.2343A>T (p.Lys781Asn) c.1224A>T (p.Lys408Asn) c.486A>T (p.Lys162Asn) c.2007A>T (p.Lys669Asn) n.244A>T c.2136A>T (p.Lys712Asn) c.2128+5712A>T (n.2128+5712A>T) n.2344A>T n.2552A>T c.1761A>T (p.Lys587Asn) c.786A>T (p.Lys262Asn) c.1500A>T (p.Lys500Asn) n.2296A>T n.2504A>T | |
1 | g.197427669T>A | CA344037011 | CRB1 | c.2344T>A (p.Leu782Ile) c.1225T>A (p.Leu409Ile) c.487T>A (p.Leu163Ile) c.2008T>A (p.Leu670Ile) n.245T>A c.2137T>A (p.Leu713Ile) c.2128+5713T>A (n.2128+5713T>A) n.2345T>A n.2553T>A c.1762T>A (p.Leu588Ile) c.787T>A (p.Leu263Ile) c.1501T>A (p.Leu501Ile) n.2297T>A n.2505T>A | |
1 | g.197427669T>C | CA422809210 | CRB1 | c.2344T>C (p.Leu782=) c.1225T>C (p.Leu409=) c.487T>C (p.Leu163=) c.2008T>C (p.Leu670=) n.245T>C c.2137T>C (p.Leu713=) c.2128+5713T>C (n.2128+5713T>C) n.2345T>C n.2553T>C c.1762T>C (p.Leu588=) c.787T>C (p.Leu263=) c.1501T>C (p.Leu501=) n.2297T>C n.2505T>C | |
1 | g.197427669T>G | CA1312105 | CRB1 | c.2344T>G (p.Leu782Val) c.1225T>G (p.Leu409Val) c.487T>G (p.Leu163Val) c.2008T>G (p.Leu670Val) n.245T>G c.2137T>G (p.Leu713Val) c.2128+5713T>G (n.2128+5713T>G) n.2345T>G n.2553T>G c.1762T>G (p.Leu588Val) c.787T>G (p.Leu263Val) c.1501T>G (p.Leu501Val) n.2297T>G n.2505T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427669T= | CA1218066155 | CRB1 | c.2344T= (p.Leu782=) c.1225T= (p.Leu409=) c.487T= (p.Leu163=) c.2008T= (p.Leu670=) n.245T= c.2137T= (p.Leu713=) c.2128+5713T= (n.2128+5713T=) n.2345T= n.2553T= c.1762T= (p.Leu588=) c.787T= (p.Leu263=) c.1501T= (p.Leu501=) n.2297T= n.2505T= | |
1 | g.197427670T>A | CA344037012 | CRB1 | c.2345T>A (p.Leu782Ter) c.1226T>A (p.Leu409Ter) c.488T>A (p.Leu163Ter) c.2009T>A (p.Leu670Ter) n.246T>A c.2138T>A (p.Leu713Ter) c.2128+5714T>A (n.2128+5714T>A) n.2346T>A n.2554T>A c.1763T>A (p.Leu588Ter) c.788T>A (p.Leu263Ter) c.1502T>A (p.Leu501Ter) n.2298T>A n.2506T>A | |
1 | g.197427670T>C | CA344037013 | CRB1 | c.2345T>C (p.Leu782Ser) c.1226T>C (p.Leu409Ser) c.488T>C (p.Leu163Ser) c.2009T>C (p.Leu670Ser) n.246T>C c.2138T>C (p.Leu713Ser) c.2128+5714T>C (n.2128+5714T>C) n.2346T>C n.2554T>C c.1763T>C (p.Leu588Ser) c.788T>C (p.Leu263Ser) c.1502T>C (p.Leu501Ser) n.2298T>C n.2506T>C | |
1 | g.197427670T>G | CA344037014 | CRB1 | c.2345T>G (p.Leu782Ter) c.1226T>G (p.Leu409Ter) c.488T>G (p.Leu163Ter) c.2009T>G (p.Leu670Ter) n.246T>G c.2138T>G (p.Leu713Ter) c.2128+5714T>G (n.2128+5714T>G) n.2346T>G n.2554T>G c.1763T>G (p.Leu588Ter) c.788T>G (p.Leu263Ter) c.1502T>G (p.Leu501Ter) n.2298T>G n.2506T>G | |
1 | g.197427671A>C | CA344037015 | CRB1 | c.2346A>C (p.Leu782Phe) c.1227A>C (p.Leu409Phe) c.489A>C (p.Leu163Phe) c.2010A>C (p.Leu670Phe) n.247A>C c.2139A>C (p.Leu713Phe) c.2128+5715A>C (n.2128+5715A>C) n.2347A>C n.2555A>C c.1764A>C (p.Leu588Phe) c.789A>C (p.Leu263Phe) c.1503A>C (p.Leu501Phe) n.2299A>C n.2507A>C | |
1 | g.197427671A>G | CA422809216 | CRB1 | c.2346A>G (p.Leu782=) c.1227A>G (p.Leu409=) c.489A>G (p.Leu163=) c.2010A>G (p.Leu670=) n.247A>G c.2139A>G (p.Leu713=) c.2128+5715A>G (n.2128+5715A>G) n.2347A>G n.2555A>G c.1764A>G (p.Leu588=) c.789A>G (p.Leu263=) c.1503A>G (p.Leu501=) n.2299A>G n.2507A>G | ClinVar gnomAD v4 |
1 | g.197427671A>T | CA344037016 | CRB1 | c.2346A>T (p.Leu782Phe) c.1227A>T (p.Leu409Phe) c.489A>T (p.Leu163Phe) c.2010A>T (p.Leu670Phe) n.247A>T c.2139A>T (p.Leu713Phe) c.2128+5715A>T (n.2128+5715A>T) n.2347A>T n.2555A>T c.1764A>T (p.Leu588Phe) c.789A>T (p.Leu263Phe) c.1503A>T (p.Leu501Phe) n.2299A>T n.2507A>T | gnomAD v4 |
1 | g.197427672G>A | CA344037019 | CRB1 | c.2347G>A (p.Val783Ile) c.1228G>A (p.Val410Ile) c.490G>A (p.Val164Ile) c.2011G>A (p.Val671Ile) n.248G>A c.2140G>A (p.Val714Ile) c.2128+5716G>A (n.2128+5716G>A) n.2348G>A n.2556G>A c.1765G>A (p.Val589Ile) c.790G>A (p.Val264Ile) c.1504G>A (p.Val502Ile) n.2300G>A n.2508G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427672G>C | CA344037017 | CRB1 | c.2347G>C (p.Val783Leu) c.1228G>C (p.Val410Leu) c.490G>C (p.Val164Leu) c.2011G>C (p.Val671Leu) n.248G>C c.2140G>C (p.Val714Leu) c.2128+5716G>C (n.2128+5716G>C) n.2348G>C n.2556G>C c.1765G>C (p.Val589Leu) c.790G>C (p.Val264Leu) c.1504G>C (p.Val502Leu) n.2300G>C n.2508G>C | |
1 | g.197427672G= | CA1218066157 | CRB1 | c.2347G= (p.Val783=) c.1228G= (p.Val410=) c.490G= (p.Val164=) c.2011G= (p.Val671=) n.248G= c.2140G= (p.Val714=) c.2128+5716G= (n.2128+5716G=) n.2348G= n.2556G= c.1765G= (p.Val589=) c.790G= (p.Val264=) c.1504G= (p.Val502=) n.2300G= n.2508G= | |
1 | g.197427672G>T | CA344037018 | CRB1 | c.2347G>T (p.Val783Leu) c.1228G>T (p.Val410Leu) c.490G>T (p.Val164Leu) c.2011G>T (p.Val671Leu) n.248G>T c.2140G>T (p.Val714Leu) c.2128+5716G>T (n.2128+5716G>T) n.2348G>T n.2556G>T c.1765G>T (p.Val589Leu) c.790G>T (p.Val264Leu) c.1504G>T (p.Val502Leu) n.2300G>T n.2508G>T | |
1 | g.197427673T>A | CA344037020 | CRB1 | c.2348T>A (p.Val783Glu) c.1229T>A (p.Val410Glu) c.491T>A (p.Val164Glu) c.2012T>A (p.Val671Glu) n.249T>A c.2141T>A (p.Val714Glu) c.2128+5717T>A (n.2128+5717T>A) n.2349T>A n.2557T>A c.1766T>A (p.Val589Glu) c.791T>A (p.Val264Glu) c.1505T>A (p.Val502Glu) n.2301T>A n.2509T>A | |
1 | g.197427673T>C | CA344037021 | CRB1 | c.2348T>C (p.Val783Ala) c.1229T>C (p.Val410Ala) c.491T>C (p.Val164Ala) c.2012T>C (p.Val671Ala) n.249T>C c.2141T>C (p.Val714Ala) c.2128+5717T>C (n.2128+5717T>C) n.2349T>C n.2557T>C c.1766T>C (p.Val589Ala) c.791T>C (p.Val264Ala) c.1505T>C (p.Val502Ala) n.2301T>C n.2509T>C | gnomAD v4 |
1 | g.197427673T>G | CA344037022 | CRB1 | c.2348T>G (p.Val783Gly) c.1229T>G (p.Val410Gly) c.491T>G (p.Val164Gly) c.2012T>G (p.Val671Gly) n.249T>G c.2141T>G (p.Val714Gly) c.2128+5717T>G (n.2128+5717T>G) n.2349T>G n.2557T>G c.1766T>G (p.Val589Gly) c.791T>G (p.Val264Gly) c.1505T>G (p.Val502Gly) n.2301T>G n.2509T>G | |
1 | g.197427674A>C | CA422809224 | CRB1 | c.2349A>C (p.Val783=) c.1230A>C (p.Val410=) c.492A>C (p.Val164=) c.2013A>C (p.Val671=) n.250A>C c.2142A>C (p.Val714=) c.2128+5718A>C (n.2128+5718A>C) n.2350A>C n.2558A>C c.1767A>C (p.Val589=) c.792A>C (p.Val264=) c.1506A>C (p.Val502=) n.2302A>C n.2510A>C | |
1 | g.197427674A>G | CA422809225 | CRB1 | c.2349A>G (p.Val783=) c.1230A>G (p.Val410=) c.492A>G (p.Val164=) c.2013A>G (p.Val671=) n.250A>G c.2142A>G (p.Val714=) c.2128+5718A>G (n.2128+5718A>G) n.2350A>G n.2558A>G c.1767A>G (p.Val589=) c.792A>G (p.Val264=) c.1506A>G (p.Val502=) n.2302A>G n.2510A>G | |
1 | g.197427674A>T | CA422809223 | CRB1 | c.2349A>T (p.Val783=) c.1230A>T (p.Val410=) c.492A>T (p.Val164=) c.2013A>T (p.Val671=) n.250A>T c.2142A>T (p.Val714=) c.2128+5718A>T (n.2128+5718A>T) n.2350A>T n.2558A>T c.1767A>T (p.Val589=) c.792A>T (p.Val264=) c.1506A>T (p.Val502=) n.2302A>T n.2510A>T | |
1 | g.197427675G>A | CA1312106 | CRB1 | c.2350G>A (p.Val784Ile) c.1231G>A (p.Val411Ile) c.493G>A (p.Val165Ile) c.2014G>A (p.Val672Ile) n.251G>A c.2143G>A (p.Val715Ile) c.2128+5719G>A (n.2128+5719G>A) n.2351G>A n.2559G>A c.1768G>A (p.Val590Ile) c.793G>A (p.Val265Ile) c.1507G>A (p.Val503Ile) n.2303G>A n.2511G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427675G>C | CA344037023 | CRB1 | c.2350G>C (p.Val784Leu) c.1231G>C (p.Val411Leu) c.493G>C (p.Val165Leu) c.2014G>C (p.Val672Leu) n.251G>C c.2143G>C (p.Val715Leu) c.2128+5719G>C (n.2128+5719G>C) n.2351G>C n.2559G>C c.1768G>C (p.Val590Leu) c.793G>C (p.Val265Leu) c.1507G>C (p.Val503Leu) n.2303G>C n.2511G>C | |
1 | g.197427675G= | CA1218066158 | CRB1 | c.2350G= (p.Val784=) c.1231G= (p.Val411=) c.493G= (p.Val165=) c.2014G= (p.Val672=) n.251G= c.2143G= (p.Val715=) c.2128+5719G= (n.2128+5719G=) n.2351G= n.2559G= c.1768G= (p.Val590=) c.793G= (p.Val265=) c.1507G= (p.Val503=) n.2303G= n.2511G= | |
1 | g.197427675G>T | CA344037024 | CRB1 | c.2350G>T (p.Val784Leu) c.1231G>T (p.Val411Leu) c.493G>T (p.Val165Leu) c.2014G>T (p.Val672Leu) n.251G>T c.2143G>T (p.Val715Leu) c.2128+5719G>T (n.2128+5719G>T) n.2351G>T n.2559G>T c.1768G>T (p.Val590Leu) c.793G>T (p.Val265Leu) c.1507G>T (p.Val503Leu) n.2303G>T n.2511G>T | |
1 | g.197427676T>A | CA344037025 | CRB1 | c.2351T>A (p.Val784Glu) c.1232T>A (p.Val411Glu) c.494T>A (p.Val165Glu) c.2015T>A (p.Val672Glu) n.252T>A c.2144T>A (p.Val715Glu) c.2128+5720T>A (n.2128+5720T>A) n.2352T>A n.2560T>A c.1769T>A (p.Val590Glu) c.794T>A (p.Val265Glu) c.1508T>A (p.Val503Glu) n.2304T>A n.2512T>A | |
1 | g.197427676T>C | CA344037026 | CRB1 | c.2351T>C (p.Val784Ala) c.1232T>C (p.Val411Ala) c.494T>C (p.Val165Ala) c.2015T>C (p.Val672Ala) n.252T>C c.2144T>C (p.Val715Ala) c.2128+5720T>C (n.2128+5720T>C) n.2352T>C n.2560T>C c.1769T>C (p.Val590Ala) c.794T>C (p.Val265Ala) c.1508T>C (p.Val503Ala) n.2304T>C n.2512T>C | |
1 | g.197427676T>G | CA344037027 | CRB1 | c.2351T>G (p.Val784Gly) c.1232T>G (p.Val411Gly) c.494T>G (p.Val165Gly) c.2015T>G (p.Val672Gly) n.252T>G c.2144T>G (p.Val715Gly) c.2128+5720T>G (n.2128+5720T>G) n.2352T>G n.2560T>G c.1769T>G (p.Val590Gly) c.794T>G (p.Val265Gly) c.1508T>G (p.Val503Gly) n.2304T>G n.2512T>G | |
1 | g.197427677A= | CA1141652929 | CRB1 | c.2352A= (p.Val784=) c.1233A= (p.Val411=) c.495A= (p.Val165=) c.2016A= (p.Val672=) n.253A= c.2145A= (p.Val715=) c.2128+5721A= (n.2128+5721A=) n.2353A= n.2561A= c.1770A= (p.Val590=) c.795A= (p.Val265=) c.1509A= (p.Val503=) n.2305A= n.2513A= | |
1 | g.197427677A>C | CA422809232 | CRB1 | c.2352A>C (p.Val784=) c.1233A>C (p.Val411=) c.495A>C (p.Val165=) c.2016A>C (p.Val672=) n.253A>C c.2145A>C (p.Val715=) c.2128+5721A>C (n.2128+5721A>C) n.2353A>C n.2561A>C c.1770A>C (p.Val590=) c.795A>C (p.Val265=) c.1509A>C (p.Val503=) n.2305A>C n.2513A>C | |
1 | g.197427677A>G | CA422809233 | CRB1 | c.2352A>G (p.Val784=) c.1233A>G (p.Val411=) c.495A>G (p.Val165=) c.2016A>G (p.Val672=) n.253A>G c.2145A>G (p.Val715=) c.2128+5721A>G (n.2128+5721A>G) n.2353A>G n.2561A>G c.1770A>G (p.Val590=) c.795A>G (p.Val265=) c.1509A>G (p.Val503=) n.2305A>G n.2513A>G | |
1 | g.197427677A>T | CA1312107 | CRB1 | c.2352A>T (p.Val784=) c.1233A>T (p.Val411=) c.495A>T (p.Val165=) c.2016A>T (p.Val672=) n.253A>T c.2145A>T (p.Val715=) c.2128+5721A>T (n.2128+5721A>T) n.2353A>T n.2561A>T c.1770A>T (p.Val590=) c.795A>T (p.Val265=) c.1509A>T (p.Val503=) n.2305A>T n.2513A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427680del | CA2574105528 | CRB1 | c.2355del (p.Lys785AsnfsTer11) c.1236del (p.Lys412AsnfsTer11) c.498del (p.Lys166AsnfsTer11) c.2019del (p.Lys673AsnfsTer11) n.256del c.2148del (p.Lys716AsnfsTer11) c.2128+5724del (n.2128+5724del) n.2356del n.2564del c.1773del (p.Lys591AsnfsTer11) c.798del (p.Lys266AsnfsTer11) c.1512del (p.Lys504AsnfsTer11) n.2308del n.2516del | ClinVar |
1 | g.197427678A>C | CA344037030 | CRB1 | c.2353A>C (p.Lys785Gln) c.1234A>C (p.Lys412Gln) c.496A>C (p.Lys166Gln) c.2017A>C (p.Lys673Gln) n.254A>C c.2146A>C (p.Lys716Gln) c.2128+5722A>C (n.2128+5722A>C) n.2354A>C n.2562A>C c.1771A>C (p.Lys591Gln) c.796A>C (p.Lys266Gln) c.1510A>C (p.Lys504Gln) n.2306A>C n.2514A>C | |
1 | g.197427678A>G | CA344037029 | CRB1 | c.2353A>G (p.Lys785Glu) c.1234A>G (p.Lys412Glu) c.496A>G (p.Lys166Glu) c.2017A>G (p.Lys673Glu) n.254A>G c.2146A>G (p.Lys716Glu) c.2128+5722A>G (n.2128+5722A>G) n.2354A>G n.2562A>G c.1771A>G (p.Lys591Glu) c.796A>G (p.Lys266Glu) c.1510A>G (p.Lys504Glu) n.2306A>G n.2514A>G | |
1 | g.197427678A>T | CA344037028 | CRB1 | c.2353A>T (p.Lys785Ter) c.1234A>T (p.Lys412Ter) c.496A>T (p.Lys166Ter) c.2017A>T (p.Lys673Ter) n.254A>T c.2146A>T (p.Lys716Ter) c.2128+5722A>T (n.2128+5722A>T) n.2354A>T n.2562A>T c.1771A>T (p.Lys591Ter) c.796A>T (p.Lys266Ter) c.1510A>T (p.Lys504Ter) n.2306A>T n.2514A>T | |
1 | g.197427679A>C | CA344037031 | CRB1 | c.2354A>C (p.Lys785Thr) c.1235A>C (p.Lys412Thr) c.497A>C (p.Lys166Thr) c.2018A>C (p.Lys673Thr) n.255A>C c.2147A>C (p.Lys716Thr) c.2128+5723A>C (n.2128+5723A>C) n.2355A>C n.2563A>C c.1772A>C (p.Lys591Thr) c.797A>C (p.Lys266Thr) c.1511A>C (p.Lys504Thr) n.2307A>C n.2515A>C | |
1 | g.197427679A>G | CA344037033 | CRB1 | c.2354A>G (p.Lys785Arg) c.1235A>G (p.Lys412Arg) c.497A>G (p.Lys166Arg) c.2018A>G (p.Lys673Arg) n.255A>G c.2147A>G (p.Lys716Arg) c.2128+5723A>G (n.2128+5723A>G) n.2355A>G n.2563A>G c.1772A>G (p.Lys591Arg) c.797A>G (p.Lys266Arg) c.1511A>G (p.Lys504Arg) n.2307A>G n.2515A>G | |
1 | g.197427679A>T | CA344037032 | CRB1 | c.2354A>T (p.Lys785Ile) c.1235A>T (p.Lys412Ile) c.497A>T (p.Lys166Ile) c.2018A>T (p.Lys673Ile) n.255A>T c.2147A>T (p.Lys716Ile) c.2128+5723A>T (n.2128+5723A>T) n.2355A>T n.2563A>T c.1772A>T (p.Lys591Ile) c.797A>T (p.Lys266Ile) c.1511A>T (p.Lys504Ile) n.2307A>T n.2515A>T | |
1 | g.197427680A= | CA1218066161 | CRB1 | c.2355A= (p.Lys785=) c.1236A= (p.Lys412=) c.498A= (p.Lys166=) c.2019A= (p.Lys673=) n.256A= c.2148A= (p.Lys716=) c.2128+5724A= (n.2128+5724A=) n.2356A= n.2564A= c.1773A= (p.Lys591=) c.798A= (p.Lys266=) c.1512A= (p.Lys504=) n.2308A= n.2516A= | |
1 | g.197427680A>C | CA344037034 | CRB1 | c.2355A>C (p.Lys785Asn) c.1236A>C (p.Lys412Asn) c.498A>C (p.Lys166Asn) c.2019A>C (p.Lys673Asn) n.256A>C c.2148A>C (p.Lys716Asn) c.2128+5724A>C (n.2128+5724A>C) n.2356A>C n.2564A>C c.1773A>C (p.Lys591Asn) c.798A>C (p.Lys266Asn) c.1512A>C (p.Lys504Asn) n.2308A>C n.2516A>C | dbSNP |
1 | g.197427680A>G | CA422809241 | CRB1 | c.2355A>G (p.Lys785=) c.1236A>G (p.Lys412=) c.498A>G (p.Lys166=) c.2019A>G (p.Lys673=) n.256A>G c.2148A>G (p.Lys716=) c.2128+5724A>G (n.2128+5724A>G) n.2356A>G n.2564A>G c.1773A>G (p.Lys591=) c.798A>G (p.Lys266=) c.1512A>G (p.Lys504=) n.2308A>G n.2516A>G | |
1 | g.197427680A>T | CA344037035 | CRB1 | c.2355A>T (p.Lys785Asn) c.1236A>T (p.Lys412Asn) c.498A>T (p.Lys166Asn) c.2019A>T (p.Lys673Asn) n.256A>T c.2148A>T (p.Lys716Asn) c.2128+5724A>T (n.2128+5724A>T) n.2356A>T n.2564A>T c.1773A>T (p.Lys591Asn) c.798A>T (p.Lys266Asn) c.1512A>T (p.Lys504Asn) n.2308A>T n.2516A>T | |
1 | g.197427681T>A | CA344037036 | CRB1 | c.2356T>A (p.Phe786Ile) c.1237T>A (p.Phe413Ile) c.499T>A (p.Phe167Ile) c.2020T>A (p.Phe674Ile) n.257T>A c.2149T>A (p.Phe717Ile) c.2128+5725T>A (n.2128+5725T>A) n.2357T>A n.2565T>A c.1774T>A (p.Phe592Ile) c.799T>A (p.Phe267Ile) c.1513T>A (p.Phe505Ile) n.2309T>A n.2517T>A | |
1 | g.197427681T>C | CA344037037 | CRB1 | c.2356T>C (p.Phe786Leu) c.1237T>C (p.Phe413Leu) c.499T>C (p.Phe167Leu) c.2020T>C (p.Phe674Leu) n.257T>C c.2149T>C (p.Phe717Leu) c.2128+5725T>C (n.2128+5725T>C) n.2357T>C n.2565T>C c.1774T>C (p.Phe592Leu) c.799T>C (p.Phe267Leu) c.1513T>C (p.Phe505Leu) n.2309T>C n.2517T>C | |
1 | g.197427681T>G | CA344037038 | CRB1 | c.2356T>G (p.Phe786Val) c.1237T>G (p.Phe413Val) c.499T>G (p.Phe167Val) c.2020T>G (p.Phe674Val) n.257T>G c.2149T>G (p.Phe717Val) c.2128+5725T>G (n.2128+5725T>G) n.2357T>G n.2565T>G c.1774T>G (p.Phe592Val) c.799T>G (p.Phe267Val) c.1513T>G (p.Phe505Val) n.2309T>G n.2517T>G | |
1 | g.197427683del | CA2545867274 | CRB1 | c.2358del (p.Phe786LeufsTer10) c.1239del (p.Phe413LeufsTer10) c.501del (p.Phe167LeufsTer10) c.2022del (p.Phe674LeufsTer10) n.259del c.2151del (p.Phe717LeufsTer10) c.2128+5727del (n.2128+5727del) n.2359del n.2567del c.1776del (p.Phe592LeufsTer10) c.801del (p.Phe267LeufsTer10) c.1515del (p.Phe505LeufsTer10) n.2311del n.2519del | |
1 | g.197427682T>A | CA344037039 | CRB1 | c.2357T>A (p.Phe786Tyr) c.1238T>A (p.Phe413Tyr) c.500T>A (p.Phe167Tyr) c.2021T>A (p.Phe674Tyr) n.258T>A c.2150T>A (p.Phe717Tyr) c.2128+5726T>A (n.2128+5726T>A) n.2358T>A n.2566T>A c.1775T>A (p.Phe592Tyr) c.800T>A (p.Phe267Tyr) c.1514T>A (p.Phe505Tyr) n.2310T>A n.2518T>A | gnomAD v4 COSMIC |
1 | g.197427682T>C | CA344037040 | CRB1 | c.2357T>C (p.Phe786Ser) c.1238T>C (p.Phe413Ser) c.500T>C (p.Phe167Ser) c.2021T>C (p.Phe674Ser) n.258T>C c.2150T>C (p.Phe717Ser) c.2128+5726T>C (n.2128+5726T>C) n.2358T>C n.2566T>C c.1775T>C (p.Phe592Ser) c.800T>C (p.Phe267Ser) c.1514T>C (p.Phe505Ser) n.2310T>C n.2518T>C | |
1 | g.197427682T>G | CA344037041 | CRB1 | c.2357T>G (p.Phe786Cys) c.1238T>G (p.Phe413Cys) c.500T>G (p.Phe167Cys) c.2021T>G (p.Phe674Cys) n.258T>G c.2150T>G (p.Phe717Cys) c.2128+5726T>G (n.2128+5726T>G) n.2358T>G n.2566T>G c.1775T>G (p.Phe592Cys) c.800T>G (p.Phe267Cys) c.1514T>G (p.Phe505Cys) n.2310T>G n.2518T>G | |
1 | g.197427683T>A | CA344037042 | CRB1 | c.2358T>A (p.Phe786Leu) c.1239T>A (p.Phe413Leu) c.501T>A (p.Phe167Leu) c.2022T>A (p.Phe674Leu) n.259T>A c.2151T>A (p.Phe717Leu) c.2128+5727T>A (n.2128+5727T>A) n.2359T>A n.2567T>A c.1776T>A (p.Phe592Leu) c.801T>A (p.Phe267Leu) c.1515T>A (p.Phe505Leu) n.2311T>A n.2519T>A | |
1 | g.197427683T>C | CA422809246 | CRB1 | c.2358T>C (p.Phe786=) c.1239T>C (p.Phe413=) c.501T>C (p.Phe167=) c.2022T>C (p.Phe674=) n.259T>C c.2151T>C (p.Phe717=) c.2128+5727T>C (n.2128+5727T>C) n.2359T>C n.2567T>C c.1776T>C (p.Phe592=) c.801T>C (p.Phe267=) c.1515T>C (p.Phe505=) n.2311T>C n.2519T>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427683T>G | CA344037043 | CRB1 | c.2358T>G (p.Phe786Leu) c.1239T>G (p.Phe413Leu) c.501T>G (p.Phe167Leu) c.2022T>G (p.Phe674Leu) n.259T>G c.2151T>G (p.Phe717Leu) c.2128+5727T>G (n.2128+5727T>G) n.2359T>G n.2567T>G c.1776T>G (p.Phe592Leu) c.801T>G (p.Phe267Leu) c.1515T>G (p.Phe505Leu) n.2311T>G n.2519T>G | dbSNP |
1 | g.197427683T= | CA1218066164 | CRB1 | c.2358T= (p.Phe786=) c.1239T= (p.Phe413=) c.501T= (p.Phe167=) c.2022T= (p.Phe674=) n.259T= c.2151T= (p.Phe717=) c.2128+5727T= (n.2128+5727T=) n.2359T= n.2567T= c.1776T= (p.Phe592=) c.801T= (p.Phe267=) c.1515T= (p.Phe505=) n.2311T= n.2519T= | |
1 | g.197427684G>A | CA344037044 | CRB1 | c.2359G>A (p.Val787Ile) c.1240G>A (p.Val414Ile) c.502G>A (p.Val168Ile) c.2023G>A (p.Val675Ile) n.260G>A c.2152G>A (p.Val718Ile) c.2128+5728G>A (n.2128+5728G>A) n.2360G>A n.2568G>A c.1777G>A (p.Val593Ile) c.802G>A (p.Val268Ile) c.1516G>A (p.Val506Ile) n.2312G>A n.2520G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427684G>C | CA1312108 | CRB1 | c.2359G>C (p.Val787Leu) c.1240G>C (p.Val414Leu) c.502G>C (p.Val168Leu) c.2023G>C (p.Val675Leu) n.260G>C c.2152G>C (p.Val718Leu) c.2128+5728G>C (n.2128+5728G>C) n.2360G>C n.2568G>C c.1777G>C (p.Val593Leu) c.802G>C (p.Val268Leu) c.1516G>C (p.Val506Leu) n.2312G>C n.2520G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427684G= | CA1141753916 | CRB1 | c.2359G= (p.Val787=) c.1240G= (p.Val414=) c.502G= (p.Val168=) c.2023G= (p.Val675=) n.260G= c.2152G= (p.Val718=) c.2128+5728G= (n.2128+5728G=) n.2360G= n.2568G= c.1777G= (p.Val593=) c.802G= (p.Val268=) c.1516G= (p.Val506=) n.2312G= n.2520G= | |
1 | g.197427684G>T | CA1312109 | CRB1 | c.2359G>T (p.Val787Phe) c.1240G>T (p.Val414Phe) c.502G>T (p.Val168Phe) c.2023G>T (p.Val675Phe) n.260G>T c.2152G>T (p.Val718Phe) c.2128+5728G>T (n.2128+5728G>T) n.2360G>T n.2568G>T c.1777G>T (p.Val593Phe) c.802G>T (p.Val268Phe) c.1516G>T (p.Val506Phe) n.2312G>T n.2520G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427685T>A | CA344037045 | CRB1 | c.2360T>A (p.Val787Asp) c.1241T>A (p.Val414Asp) c.503T>A (p.Val168Asp) c.2024T>A (p.Val675Asp) n.261T>A c.2153T>A (p.Val718Asp) c.2128+5729T>A (n.2128+5729T>A) n.2361T>A n.2569T>A c.1778T>A (p.Val593Asp) c.803T>A (p.Val268Asp) c.1517T>A (p.Val506Asp) n.2313T>A n.2521T>A | |
1 | g.197427685T>C | CA344037047 | CRB1 | c.2360T>C (p.Val787Ala) c.1241T>C (p.Val414Ala) c.503T>C (p.Val168Ala) c.2024T>C (p.Val675Ala) n.261T>C c.2153T>C (p.Val718Ala) c.2128+5729T>C (n.2128+5729T>C) n.2361T>C n.2569T>C c.1778T>C (p.Val593Ala) c.803T>C (p.Val268Ala) c.1517T>C (p.Val506Ala) n.2313T>C n.2521T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427685T>G | CA344037046 | CRB1 | c.2360T>G (p.Val787Gly) c.1241T>G (p.Val414Gly) c.503T>G (p.Val168Gly) c.2024T>G (p.Val675Gly) n.261T>G c.2153T>G (p.Val718Gly) c.2128+5729T>G (n.2128+5729T>G) n.2361T>G n.2569T>G c.1778T>G (p.Val593Gly) c.803T>G (p.Val268Gly) c.1517T>G (p.Val506Gly) n.2313T>G n.2521T>G | |
1 | g.197427685T= | CA1218066167 | CRB1 | c.2360T= (p.Val787=) c.1241T= (p.Val414=) c.503T= (p.Val168=) c.2024T= (p.Val675=) n.261T= c.2153T= (p.Val718=) c.2128+5729T= (n.2128+5729T=) n.2361T= n.2569T= c.1778T= (p.Val593=) c.803T= (p.Val268=) c.1517T= (p.Val506=) n.2313T= n.2521T= | |
1 | g.197427686T>A | CA422809250 | CRB1 | c.2361T>A (p.Val787=) c.1242T>A (p.Val414=) c.504T>A (p.Val168=) c.2025T>A (p.Val675=) n.262T>A c.2154T>A (p.Val718=) c.2128+5730T>A (n.2128+5730T>A) n.2362T>A n.2570T>A c.1779T>A (p.Val593=) c.804T>A (p.Val268=) c.1518T>A (p.Val506=) n.2314T>A n.2522T>A | |
1 | g.197427686T>C | CA422809254 | CRB1 | c.2361T>C (p.Val787=) c.1242T>C (p.Val414=) c.504T>C (p.Val168=) c.2025T>C (p.Val675=) n.262T>C c.2154T>C (p.Val718=) c.2128+5730T>C (n.2128+5730T>C) n.2362T>C n.2570T>C c.1779T>C (p.Val593=) c.804T>C (p.Val268=) c.1518T>C (p.Val506=) n.2314T>C n.2522T>C | |
1 | g.197427686T>G | CA422809252 | CRB1 | c.2361T>G (p.Val787=) c.1242T>G (p.Val414=) c.504T>G (p.Val168=) c.2025T>G (p.Val675=) n.262T>G c.2154T>G (p.Val718=) c.2128+5730T>G (n.2128+5730T>G) n.2362T>G n.2570T>G c.1779T>G (p.Val593=) c.804T>G (p.Val268=) c.1518T>G (p.Val506=) n.2314T>G n.2522T>G | gnomAD v4 |
1 | g.197427687C>A | CA344037048 | CRB1 | c.2362C>A (p.Leu788Ile) c.1243C>A (p.Leu415Ile) c.505C>A (p.Leu169Ile) c.2026C>A (p.Leu676Ile) n.263C>A c.2155C>A (p.Leu719Ile) c.2128+5731C>A (n.2128+5731C>A) n.2363C>A n.2571C>A c.1780C>A (p.Leu594Ile) c.805C>A (p.Leu269Ile) c.1519C>A (p.Leu507Ile) n.2315C>A n.2523C>A | |
1 | g.197427687C>G | CA344037049 | CRB1 | c.2362C>G (p.Leu788Val) c.1243C>G (p.Leu415Val) c.505C>G (p.Leu169Val) c.2026C>G (p.Leu676Val) n.263C>G c.2155C>G (p.Leu719Val) c.2128+5731C>G (n.2128+5731C>G) n.2363C>G n.2571C>G c.1780C>G (p.Leu594Val) c.805C>G (p.Leu269Val) c.1519C>G (p.Leu507Val) n.2315C>G n.2523C>G | gnomAD v4 |
1 | g.197427687C>T | CA344037050 | CRB1 | c.2362C>T (p.Leu788Phe) c.1243C>T (p.Leu415Phe) c.505C>T (p.Leu169Phe) c.2026C>T (p.Leu676Phe) n.263C>T c.2155C>T (p.Leu719Phe) c.2128+5731C>T (n.2128+5731C>T) n.2363C>T n.2571C>T c.1780C>T (p.Leu594Phe) c.805C>T (p.Leu269Phe) c.1519C>T (p.Leu507Phe) n.2315C>T n.2523C>T | |
1 | g.197427688T>A | CA344037051 | CRB1 | c.2363T>A (p.Leu788His) c.1244T>A (p.Leu415His) c.506T>A (p.Leu169His) c.2027T>A (p.Leu676His) n.264T>A c.2156T>A (p.Leu719His) c.2128+5732T>A (n.2128+5732T>A) n.2364T>A n.2572T>A c.1781T>A (p.Leu594His) c.806T>A (p.Leu269His) c.1520T>A (p.Leu507His) n.2316T>A n.2524T>A | |
1 | g.197427688T>C | CA344037052 | CRB1 | c.2363T>C (p.Leu788Pro) c.1244T>C (p.Leu415Pro) c.506T>C (p.Leu169Pro) c.2027T>C (p.Leu676Pro) n.264T>C c.2156T>C (p.Leu719Pro) c.2128+5732T>C (n.2128+5732T>C) n.2364T>C n.2572T>C c.1781T>C (p.Leu594Pro) c.806T>C (p.Leu269Pro) c.1520T>C (p.Leu507Pro) n.2316T>C n.2524T>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427688T>G | CA344037053 | CRB1 | c.2363T>G (p.Leu788Arg) c.1244T>G (p.Leu415Arg) c.506T>G (p.Leu169Arg) c.2027T>G (p.Leu676Arg) n.264T>G c.2156T>G (p.Leu719Arg) c.2128+5732T>G (n.2128+5732T>G) n.2364T>G n.2572T>G c.1781T>G (p.Leu594Arg) c.806T>G (p.Leu269Arg) c.1520T>G (p.Leu507Arg) n.2316T>G n.2524T>G | ClinVar dbSNP gnomAD v4 |
1 | g.197427688T= | CA1218066169 | CRB1 | c.2363T= (p.Leu788=) c.1244T= (p.Leu415=) c.506T= (p.Leu169=) c.2027T= (p.Leu676=) n.264T= c.2156T= (p.Leu719=) c.2128+5732T= (n.2128+5732T=) n.2364T= n.2572T= c.1781T= (p.Leu594=) c.806T= (p.Leu269=) c.1520T= (p.Leu507=) n.2316T= n.2524T= | |
1 | g.197427688_197427691delinsTTAA | CA1218066171 | CRB1 | c.2363_2366delinsTTAA (p.Leu788=) c.1244_1247delinsTTAA (p.Leu415=) c.506_509delinsTTAA (p.Leu169=) c.2027_2030delinsTTAA (p.Leu676=) n.264_267delinsTTAA c.2156_2159delinsTTAA (p.Leu719=) c.2128+5732_2128+5735delinsTTAA (n.2128+5732_2128+5735delinsTTAA) n.2364_2367delinsTTAA n.2572_2575delinsTTAA c.1781_1784delinsTTAA (p.Leu594=) c.806_809delinsTTAA (p.Leu269=) c.1520_1523delinsTTAA (p.Leu507=) n.2316_2319delinsTTAA n.2524_2527delinsTTAA | |
1 | g.197427689T>A | CA422809257 | CRB1 | c.2364T>A (p.Leu788=) c.1245T>A (p.Leu415=) c.507T>A (p.Leu169=) c.2028T>A (p.Leu676=) n.265T>A c.2157T>A (p.Leu719=) c.2128+5733T>A (n.2128+5733T>A) n.2365T>A n.2573T>A c.1782T>A (p.Leu594=) c.807T>A (p.Leu269=) c.1521T>A (p.Leu507=) n.2317T>A n.2525T>A | |
1 | g.197427689T>C | CA422809259 | CRB1 | c.2364T>C (p.Leu788=) c.1245T>C (p.Leu415=) c.507T>C (p.Leu169=) c.2028T>C (p.Leu676=) n.265T>C c.2157T>C (p.Leu719=) c.2128+5733T>C (n.2128+5733T>C) n.2365T>C n.2573T>C c.1782T>C (p.Leu594=) c.807T>C (p.Leu269=) c.1521T>C (p.Leu507=) n.2317T>C n.2525T>C | |
1 | g.197427689T>G | CA422809260 | CRB1 | c.2364T>G (p.Leu788=) c.1245T>G (p.Leu415=) c.507T>G (p.Leu169=) c.2028T>G (p.Leu676=) n.265T>G c.2157T>G (p.Leu719=) c.2128+5733T>G (n.2128+5733T>G) n.2365T>G n.2573T>G c.1782T>G (p.Leu594=) c.807T>G (p.Leu269=) c.1521T>G (p.Leu507=) n.2317T>G n.2525T>G | |
1 | g.197427690_197427692del | CA729757192 | CRB1 | c.2365_2367del (p.Asn789del) c.1246_1248del (p.Asn416del) c.508_510del (p.Asn170del) c.2029_2031del (p.Asn677del) n.266_268del c.2158_2160del (p.Asn720del) c.2128+5734_2128+5736del (n.2128+5734_2128+5736del) n.2366_2368del n.2574_2576del c.1783_1785del (p.Asn595del) c.808_810del (p.Asn270del) c.1522_1524del (p.Asn508del) n.2318_2320del n.2526_2528del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197427690A= | CA1218066177 | CRB1 | c.2365A= (p.Asn789=) c.1246A= (p.Asn416=) c.508A= (p.Asn170=) c.2029A= (p.Asn677=) n.266A= c.2158A= (p.Asn720=) c.2128+5734A= (n.2128+5734A=) n.2366A= n.2574A= c.1783A= (p.Asn595=) c.808A= (p.Asn270=) c.1522A= (p.Asn508=) n.2318A= n.2526A= | |
1 | g.197427690A>C | CA1312110 | CRB1 | c.2365A>C (p.Asn789His) c.1246A>C (p.Asn416His) c.508A>C (p.Asn170His) c.2029A>C (p.Asn677His) n.266A>C c.2158A>C (p.Asn720His) c.2128+5734A>C (n.2128+5734A>C) n.2366A>C n.2574A>C c.1783A>C (p.Asn595His) c.808A>C (p.Asn270His) c.1522A>C (p.Asn508His) n.2318A>C n.2526A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427690A>G | CA344037054 | CRB1 | c.2365A>G (p.Asn789Asp) c.1246A>G (p.Asn416Asp) c.508A>G (p.Asn170Asp) c.2029A>G (p.Asn677Asp) n.266A>G c.2158A>G (p.Asn720Asp) c.2128+5734A>G (n.2128+5734A>G) n.2366A>G n.2574A>G c.1783A>G (p.Asn595Asp) c.808A>G (p.Asn270Asp) c.1522A>G (p.Asn508Asp) n.2318A>G n.2526A>G | |
1 | g.197427690A>T | CA344037055 | CRB1 | c.2365A>T (p.Asn789Tyr) c.1246A>T (p.Asn416Tyr) c.508A>T (p.Asn170Tyr) c.2029A>T (p.Asn677Tyr) n.266A>T c.2158A>T (p.Asn720Tyr) c.2128+5734A>T (n.2128+5734A>T) n.2366A>T n.2574A>T c.1783A>T (p.Asn595Tyr) c.808A>T (p.Asn270Tyr) c.1522A>T (p.Asn508Tyr) n.2318A>T n.2526A>T | |
1 | g.197427691A>C | CA344037058 | CRB1 | c.2366A>C (p.Asn789Thr) c.1247A>C (p.Asn416Thr) c.509A>C (p.Asn170Thr) c.2030A>C (p.Asn677Thr) n.267A>C c.2159A>C (p.Asn720Thr) c.2128+5735A>C (n.2128+5735A>C) n.2367A>C n.2575A>C c.1784A>C (p.Asn595Thr) c.809A>C (p.Asn270Thr) c.1523A>C (p.Asn508Thr) n.2319A>C n.2527A>C | |
1 | g.197427691A>G | CA344037057 | CRB1 | c.2366A>G (p.Asn789Ser) c.1247A>G (p.Asn416Ser) c.509A>G (p.Asn170Ser) c.2030A>G (p.Asn677Ser) n.267A>G c.2159A>G (p.Asn720Ser) c.2128+5735A>G (n.2128+5735A>G) n.2367A>G n.2575A>G c.1784A>G (p.Asn595Ser) c.809A>G (p.Asn270Ser) c.1523A>G (p.Asn508Ser) n.2319A>G n.2527A>G | |
1 | g.197427691A>T | CA344037056 | CRB1 | c.2366A>T (p.Asn789Ile) c.1247A>T (p.Asn416Ile) c.509A>T (p.Asn170Ile) c.2030A>T (p.Asn677Ile) n.267A>T c.2159A>T (p.Asn720Ile) c.2128+5735A>T (n.2128+5735A>T) n.2367A>T n.2575A>T c.1784A>T (p.Asn595Ile) c.809A>T (p.Asn270Ile) c.1523A>T (p.Asn508Ile) n.2319A>T n.2527A>T | COSMIC |
1 | g.197427692T>A | CA344037059 | CRB1 | c.2367T>A (p.Asn789Lys) c.1248T>A (p.Asn416Lys) c.510T>A (p.Asn170Lys) c.2031T>A (p.Asn677Lys) n.268T>A c.2160T>A (p.Asn720Lys) c.2128+5736T>A (n.2128+5736T>A) n.2368T>A n.2576T>A c.1785T>A (p.Asn595Lys) c.810T>A (p.Asn270Lys) c.1524T>A (p.Asn508Lys) n.2320T>A n.2528T>A | |
1 | g.197427692T>C | CA35900771 | CRB1 | c.2367T>C (p.Asn789=) c.1248T>C (p.Asn416=) c.510T>C (p.Asn170=) c.2031T>C (p.Asn677=) n.268T>C c.2160T>C (p.Asn720=) c.2128+5736T>C (n.2128+5736T>C) n.2368T>C n.2576T>C c.1785T>C (p.Asn595=) c.810T>C (p.Asn270=) c.1524T>C (p.Asn508=) n.2320T>C n.2528T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197427692T>G | CA344037060 | CRB1 | c.2367T>G (p.Asn789Lys) c.1248T>G (p.Asn416Lys) c.510T>G (p.Asn170Lys) c.2031T>G (p.Asn677Lys) n.268T>G c.2160T>G (p.Asn720Lys) c.2128+5736T>G (n.2128+5736T>G) n.2368T>G n.2576T>G c.1785T>G (p.Asn595Lys) c.810T>G (p.Asn270Lys) c.1524T>G (p.Asn508Lys) n.2320T>G n.2528T>G | |
1 | g.197427692T= | CA1218066179 | CRB1 | c.2367T= (p.Asn789=) c.1248T= (p.Asn416=) c.510T= (p.Asn170=) c.2031T= (p.Asn677=) n.268T= c.2160T= (p.Asn720=) c.2128+5736T= (n.2128+5736T=) n.2368T= n.2576T= c.1785T= (p.Asn595=) c.810T= (p.Asn270=) c.1524T= (p.Asn508=) n.2320T= n.2528T= |