| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197427547T>A | CA344036697 | CRB1 | c.2222T>A (p.Met741Lys) c.1103T>A (p.Met368Lys) c.365T>A (p.Met122Lys) c.1886T>A (p.Met629Lys) n.123T>A c.2015T>A (p.Met672Lys) c.2128+5591T>A (n.2128+5591T>A) n.2223T>A n.2431T>A c.1640T>A (p.Met547Lys) c.665T>A (p.Met222Lys) c.1379T>A (p.Met460Lys) n.2175T>A n.2383T>A | |
| 1 | g.197427547T>C | CA228002 | CRB1 | c.2222T>C (p.Met741Thr) c.1103T>C (p.Met368Thr) c.365T>C (p.Met122Thr) c.1886T>C (p.Met629Thr) n.123T>C c.2015T>C (p.Met672Thr) c.2128+5591T>C (n.2128+5591T>C) n.2223T>C n.2431T>C c.1640T>C (p.Met547Thr) c.665T>C (p.Met222Thr) c.1379T>C (p.Met460Thr) n.2175T>C n.2383T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.197427547T>G | CA344036695 | CRB1 | c.2222T>G (p.Met741Arg) c.1103T>G (p.Met368Arg) c.365T>G (p.Met122Arg) c.1886T>G (p.Met629Arg) n.123T>G c.2015T>G (p.Met672Arg) c.2128+5591T>G (n.2128+5591T>G) n.2223T>G n.2431T>G c.1640T>G (p.Met547Arg) c.665T>G (p.Met222Arg) c.1379T>G (p.Met460Arg) n.2175T>G n.2383T>G | |
| 1 | g.197427547T= | CA1140762938 | CRB1 | c.2222T= (p.Met741=) c.1103T= (p.Met368=) c.365T= (p.Met122=) c.1886T= (p.Met629=) n.123T= c.2015T= (p.Met672=) c.2128+5591T= (n.2128+5591T=) n.2223T= n.2431T= c.1640T= (p.Met547=) c.665T= (p.Met222=) c.1379T= (p.Met460=) n.2175T= n.2383T= | |
| 1 | g.197427548del | CA2649670115 | CRB1 | c.2223del (p.Met741IlefsTer13) c.1104del (p.Met368IlefsTer13) c.366del (p.Met122IlefsTer13) c.1887del (p.Met629IlefsTer13) n.124del c.2016del (p.Met672IlefsTer13) c.2128+5592del (n.2128+5592del) n.2224del n.2432del c.1641del (p.Met547IlefsTer13) c.666del (p.Met222IlefsTer13) c.1380del (p.Met460IlefsTer13) n.2176del n.2384del | gnomAD v4 |
| 1 | g.197427548G>A | CA344036700 | CRB1 | c.2223G>A (p.Met741Ile) c.1104G>A (p.Met368Ile) c.366G>A (p.Met122Ile) c.1887G>A (p.Met629Ile) n.124G>A c.2016G>A (p.Met672Ile) c.2128+5592G>A (n.2128+5592G>A) n.2224G>A n.2432G>A c.1641G>A (p.Met547Ile) c.666G>A (p.Met222Ile) c.1380G>A (p.Met460Ile) n.2176G>A n.2384G>A | ClinVar dbSNP |
| 1 | g.197427548G>C | CA344036702 | CRB1 | c.2223G>C (p.Met741Ile) c.1104G>C (p.Met368Ile) c.366G>C (p.Met122Ile) c.1887G>C (p.Met629Ile) n.124G>C c.2016G>C (p.Met672Ile) c.2128+5592G>C (n.2128+5592G>C) n.2224G>C n.2432G>C c.1641G>C (p.Met547Ile) c.666G>C (p.Met222Ile) c.1380G>C (p.Met460Ile) n.2176G>C n.2384G>C | |
| 1 | g.197427548G= | CA1218065971 | CRB1 | c.2223G= (p.Met741=) c.1104G= (p.Met368=) c.366G= (p.Met122=) c.1887G= (p.Met629=) n.124G= c.2016G= (p.Met672=) c.2128+5592G= (n.2128+5592G=) n.2224G= n.2432G= c.1641G= (p.Met547=) c.666G= (p.Met222=) c.1380G= (p.Met460=) n.2176G= n.2384G= | |
| 1 | g.197427548G>T | CA344036704 | CRB1 | c.2223G>T (p.Met741Ile) c.1104G>T (p.Met368Ile) c.366G>T (p.Met122Ile) c.1887G>T (p.Met629Ile) n.124G>T c.2016G>T (p.Met672Ile) c.2128+5592G>T (n.2128+5592G>T) n.2224G>T n.2432G>T c.1641G>T (p.Met547Ile) c.666G>T (p.Met222Ile) c.1380G>T (p.Met460Ile) n.2176G>T n.2384G>T | COSMIC COSMIC |
| 1 | g.197427549T>A | CA344036706 | CRB1 | c.2224T>A (p.Phe742Ile) c.1105T>A (p.Phe369Ile) c.367T>A (p.Phe123Ile) c.1888T>A (p.Phe630Ile) n.125T>A c.2017T>A (p.Phe673Ile) c.2128+5593T>A (n.2128+5593T>A) n.2225T>A n.2433T>A c.1642T>A (p.Phe548Ile) c.667T>A (p.Phe223Ile) c.1381T>A (p.Phe461Ile) n.2177T>A n.2385T>A | |
| 1 | g.197427549T>C | CA344036708 | CRB1 | c.2224T>C (p.Phe742Leu) c.1105T>C (p.Phe369Leu) c.367T>C (p.Phe123Leu) c.1888T>C (p.Phe630Leu) n.125T>C c.2017T>C (p.Phe673Leu) c.2128+5593T>C (n.2128+5593T>C) n.2225T>C n.2433T>C c.1642T>C (p.Phe548Leu) c.667T>C (p.Phe223Leu) c.1381T>C (p.Phe461Leu) n.2177T>C n.2385T>C | COSMIC |
| 1 | g.197427549T>G | CA344036710 | CRB1 | c.2224T>G (p.Phe742Val) c.1105T>G (p.Phe369Val) c.367T>G (p.Phe123Val) c.1888T>G (p.Phe630Val) n.125T>G c.2017T>G (p.Phe673Val) c.2128+5593T>G (n.2128+5593T>G) n.2225T>G n.2433T>G c.1642T>G (p.Phe548Val) c.667T>G (p.Phe223Val) c.1381T>G (p.Phe461Val) n.2177T>G n.2385T>G | |
| 1 | g.197427550T>A | CA344036712 | CRB1 | c.2225T>A (p.Phe742Tyr) c.1106T>A (p.Phe369Tyr) c.368T>A (p.Phe123Tyr) c.1889T>A (p.Phe630Tyr) n.126T>A c.2018T>A (p.Phe673Tyr) c.2128+5594T>A (n.2128+5594T>A) n.2226T>A n.2434T>A c.1643T>A (p.Phe548Tyr) c.668T>A (p.Phe223Tyr) c.1382T>A (p.Phe461Tyr) n.2178T>A n.2386T>A | |
| 1 | g.197427550T>C | CA1312077 | CRB1 | c.2225T>C (p.Phe742Ser) c.1106T>C (p.Phe369Ser) c.368T>C (p.Phe123Ser) c.1889T>C (p.Phe630Ser) n.126T>C c.2018T>C (p.Phe673Ser) c.2128+5594T>C (n.2128+5594T>C) n.2226T>C n.2434T>C c.1643T>C (p.Phe548Ser) c.668T>C (p.Phe223Ser) c.1382T>C (p.Phe461Ser) n.2178T>C n.2386T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427550T>G | CA344036716 | CRB1 | c.2225T>G (p.Phe742Cys) c.1106T>G (p.Phe369Cys) c.368T>G (p.Phe123Cys) c.1889T>G (p.Phe630Cys) n.126T>G c.2018T>G (p.Phe673Cys) c.2128+5594T>G (n.2128+5594T>G) n.2226T>G n.2434T>G c.1643T>G (p.Phe548Cys) c.668T>G (p.Phe223Cys) c.1382T>G (p.Phe461Cys) n.2178T>G n.2386T>G | |
| 1 | g.197427550T= | CA1141746936 | CRB1 | c.2225T= (p.Phe742=) c.1106T= (p.Phe369=) c.368T= (p.Phe123=) c.1889T= (p.Phe630=) n.126T= c.2018T= (p.Phe673=) c.2128+5594T= (n.2128+5594T=) n.2226T= n.2434T= c.1643T= (p.Phe548=) c.668T= (p.Phe223=) c.1382T= (p.Phe461=) n.2178T= n.2386T= | |
| 1 | g.197427551T>A | CA344036718 | CRB1 | c.2226T>A (p.Phe742Leu) c.1107T>A (p.Phe369Leu) c.369T>A (p.Phe123Leu) c.1890T>A (p.Phe630Leu) n.127T>A c.2019T>A (p.Phe673Leu) c.2128+5595T>A (n.2128+5595T>A) n.2227T>A n.2435T>A c.1644T>A (p.Phe548Leu) c.669T>A (p.Phe223Leu) c.1383T>A (p.Phe461Leu) n.2179T>A n.2387T>A | |
| 1 | g.197427551T>C | CA422808943 | CRB1 | c.2226T>C (p.Phe742=) c.1107T>C (p.Phe369=) c.369T>C (p.Phe123=) c.1890T>C (p.Phe630=) n.127T>C c.2019T>C (p.Phe673=) c.2128+5595T>C (n.2128+5595T>C) n.2227T>C n.2435T>C c.1644T>C (p.Phe548=) c.669T>C (p.Phe223=) c.1383T>C (p.Phe461=) n.2179T>C n.2387T>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.197427551T>G | CA344036720 | CRB1 | c.2226T>G (p.Phe742Leu) c.1107T>G (p.Phe369Leu) c.369T>G (p.Phe123Leu) c.1890T>G (p.Phe630Leu) n.127T>G c.2019T>G (p.Phe673Leu) c.2128+5595T>G (n.2128+5595T>G) n.2227T>G n.2435T>G c.1644T>G (p.Phe548Leu) c.669T>G (p.Phe223Leu) c.1383T>G (p.Phe461Leu) n.2179T>G n.2387T>G | |
| 1 | g.197427551T= | CA1218065973 | CRB1 | c.2226T= (p.Phe742=) c.1107T= (p.Phe369=) c.369T= (p.Phe123=) c.1890T= (p.Phe630=) n.127T= c.2019T= (p.Phe673=) c.2128+5595T= (n.2128+5595T=) n.2227T= n.2435T= c.1644T= (p.Phe548=) c.669T= (p.Phe223=) c.1383T= (p.Phe461=) n.2179T= n.2387T= | |
| 1 | g.197427552del | CA2586964512 | CRB1 | c.2227del (p.Val743SerfsTer11) c.1108del (p.Val370SerfsTer11) c.370del (p.Val124SerfsTer11) c.1891del (p.Val631SerfsTer11) n.128del c.2020del (p.Val674SerfsTer11) c.2128+5596del (n.2128+5596del) n.2228del n.2436del c.1645del (p.Val549SerfsTer11) c.670del (p.Val224SerfsTer11) c.1384del (p.Val462SerfsTer11) n.2180del n.2388del | |
| 1 | g.197427552G>A | CA344036724 | CRB1 | c.2227G>A (p.Val743Ile) c.1108G>A (p.Val370Ile) c.370G>A (p.Val124Ile) c.1891G>A (p.Val631Ile) n.128G>A c.2020G>A (p.Val674Ile) c.2128+5596G>A (n.2128+5596G>A) n.2228G>A n.2436G>A c.1645G>A (p.Val549Ile) c.670G>A (p.Val224Ile) c.1384G>A (p.Val462Ile) n.2180G>A n.2388G>A | gnomAD v4 |
| 1 | g.197427552G>C | CA279025 | CRB1 | c.2227G>C (p.Val743Leu) c.1108G>C (p.Val370Leu) c.370G>C (p.Val124Leu) c.1891G>C (p.Val631Leu) n.128G>C c.2020G>C (p.Val674Leu) c.2128+5596G>C (n.2128+5596G>C) n.2228G>C n.2436G>C c.1645G>C (p.Val549Leu) c.670G>C (p.Val224Leu) c.1384G>C (p.Val462Leu) n.2180G>C n.2388G>C | ClinVar dbSNP |
| 1 | g.197427552G= | CA1218065976 | CRB1 | c.2227G= (p.Val743=) c.1108G= (p.Val370=) c.370G= (p.Val124=) c.1891G= (p.Val631=) n.128G= c.2020G= (p.Val674=) c.2128+5596G= (n.2128+5596G=) n.2228G= n.2436G= c.1645G= (p.Val549=) c.670G= (p.Val224=) c.1384G= (p.Val462=) n.2180G= n.2388G= | |
| 1 | g.197427552G>T | CA344036722 | CRB1 | c.2227G>T (p.Val743Phe) c.1108G>T (p.Val370Phe) c.370G>T (p.Val124Phe) c.1891G>T (p.Val631Phe) n.128G>T c.2020G>T (p.Val674Phe) c.2128+5596G>T (n.2128+5596G>T) n.2228G>T n.2436G>T c.1645G>T (p.Val549Phe) c.670G>T (p.Val224Phe) c.1384G>T (p.Val462Phe) n.2180G>T n.2388G>T | |
| 1 | g.197427553T>A | CA344036727 | CRB1 | c.2228T>A (p.Val743Asp) c.1109T>A (p.Val370Asp) c.371T>A (p.Val124Asp) c.1892T>A (p.Val631Asp) n.129T>A c.2021T>A (p.Val674Asp) c.2128+5597T>A (n.2128+5597T>A) n.2229T>A n.2437T>A c.1646T>A (p.Val549Asp) c.671T>A (p.Val224Asp) c.1385T>A (p.Val462Asp) n.2181T>A n.2389T>A | |
| 1 | g.197427553T>C | CA344036728 | CRB1 | c.2228T>C (p.Val743Ala) c.1109T>C (p.Val370Ala) c.371T>C (p.Val124Ala) c.1892T>C (p.Val631Ala) n.129T>C c.2021T>C (p.Val674Ala) c.2128+5597T>C (n.2128+5597T>C) n.2229T>C n.2437T>C c.1646T>C (p.Val549Ala) c.671T>C (p.Val224Ala) c.1385T>C (p.Val462Ala) n.2181T>C n.2389T>C | |
| 1 | g.197427553T>G | CA344036730 | CRB1 | c.2228T>G (p.Val743Gly) c.1109T>G (p.Val370Gly) c.371T>G (p.Val124Gly) c.1892T>G (p.Val631Gly) n.129T>G c.2021T>G (p.Val674Gly) c.2128+5597T>G (n.2128+5597T>G) n.2229T>G n.2437T>G c.1646T>G (p.Val549Gly) c.671T>G (p.Val224Gly) c.1385T>G (p.Val462Gly) n.2181T>G n.2389T>G | |
| 1 | g.197427553T= | CA1218065978 | CRB1 | c.2228T= (p.Val743=) c.1109T= (p.Val370=) c.371T= (p.Val124=) c.1892T= (p.Val631=) n.129T= c.2021T= (p.Val674=) c.2128+5597T= (n.2128+5597T=) n.2229T= n.2437T= c.1646T= (p.Val549=) c.671T= (p.Val224=) c.1385T= (p.Val462=) n.2181T= n.2389T= | |
| 1 | g.197427554C>A | CA422808945 | CRB1 | c.2229C>A (p.Val743=) c.1110C>A (p.Val370=) c.372C>A (p.Val124=) c.1893C>A (p.Val631=) n.130C>A c.2022C>A (p.Val674=) c.2128+5598C>A (n.2128+5598C>A) n.2230C>A n.2438C>A c.1647C>A (p.Val549=) c.672C>A (p.Val224=) c.1386C>A (p.Val462=) n.2182C>A n.2390C>A | |
| 1 | g.197427554C>G | CA422808946 | CRB1 | c.2229C>G (p.Val743=) c.1110C>G (p.Val370=) c.372C>G (p.Val124=) c.1893C>G (p.Val631=) n.130C>G c.2022C>G (p.Val674=) c.2128+5598C>G (n.2128+5598C>G) n.2230C>G n.2438C>G c.1647C>G (p.Val549=) c.672C>G (p.Val224=) c.1386C>G (p.Val462=) n.2182C>G n.2390C>G | |
| 1 | g.197427554C>T | CA422808947 | CRB1 | c.2229C>T (p.Val743=) c.1110C>T (p.Val370=) c.372C>T (p.Val124=) c.1893C>T (p.Val631=) n.130C>T c.2022C>T (p.Val674=) c.2128+5598C>T (n.2128+5598C>T) n.2230C>T n.2438C>T c.1647C>T (p.Val549=) c.672C>T (p.Val224=) c.1386C>T (p.Val462=) n.2182C>T n.2390C>T | COSMIC |
| 1 | g.197427554_197427555insTCCATGTTGAAGC | CA1139656488 | CRB1 | c.2229_2230insTCCATGTTGAAGC (p.Arg744SerfsTer?) c.1110_1111insTCCATGTTGAAGC (p.Arg371SerfsTer?) c.372_373insTCCATGTTGAAGC (p.Arg125SerfsTer?) c.1893_1894insTCCATGTTGAAGC (p.Arg632SerfsTer?) n.130_131insTCCATGTTGAAGC c.2022_2023insTCCATGTTGAAGC (p.Arg675SerfsTer?) c.2128+5598_2128+5599insTCCATGTTGAAGC (n.2128+5598_2128+5599insTCCATGTTGAAGC) n.2230_2231insTCCATGTTGAAGC n.2438_2439insTCCATGTTGAAGC c.1647_1648insTCCATGTTGAAGC (p.Arg550SerfsTer?) c.672_673insTCCATGTTGAAGC (p.Arg225SerfsTer?) c.1386_1387insTCCATGTTGAAGC (p.Arg463SerfsTer?) n.2182_2183insTCCATGTTGAAGC n.2390_2391insTCCATGTTGAAGC | ClinVar dbSNP |
| 1 | g.197427555C>A | CA1312078 | CRB1 | c.2230C>A (p.Arg744=) c.1111C>A (p.Arg371=) c.373C>A (p.Arg125=) c.1894C>A (p.Arg632=) n.131C>A c.2023C>A (p.Arg675=) c.2128+5599C>A (n.2128+5599C>A) n.2231C>A n.2439C>A c.1648C>A (p.Arg550=) c.673C>A (p.Arg225=) c.1387C>A (p.Arg463=) n.2183C>A n.2391C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427555C= | CA1142363612 | CRB1 | c.2230C= (p.Arg744=) c.1111C= (p.Arg371=) c.373C= (p.Arg125=) c.1894C= (p.Arg632=) n.131C= c.2023C= (p.Arg675=) c.2128+5599C= (n.2128+5599C=) n.2231C= n.2439C= c.1648C= (p.Arg550=) c.673C= (p.Arg225=) c.1387C= (p.Arg463=) n.2183C= n.2391C= | |
| 1 | g.197427555C>G | CA344036731 | CRB1 | c.2230C>G (p.Arg744Gly) c.1111C>G (p.Arg371Gly) c.373C>G (p.Arg125Gly) c.1894C>G (p.Arg632Gly) n.131C>G c.2023C>G (p.Arg675Gly) c.2128+5599C>G (n.2128+5599C>G) n.2231C>G n.2439C>G c.1648C>G (p.Arg550Gly) c.673C>G (p.Arg225Gly) c.1387C>G (p.Arg463Gly) n.2183C>G n.2391C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197427555C>T | CA1312079 | CRB1 | c.2230C>T (p.Arg744Ter) c.1111C>T (p.Arg371Ter) c.373C>T (p.Arg125Ter) c.1894C>T (p.Arg632Ter) n.131C>T c.2023C>T (p.Arg675Ter) c.2128+5599C>T (n.2128+5599C>T) n.2231C>T n.2439C>T c.1648C>T (p.Arg550Ter) c.673C>T (p.Arg225Ter) c.1387C>T (p.Arg463Ter) n.2183C>T n.2391C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.197427556G>A | CA1312080 | CRB1 | c.2231G>A (p.Arg744Gln) c.1112G>A (p.Arg371Gln) c.374G>A (p.Arg125Gln) c.1895G>A (p.Arg632Gln) n.132G>A c.2024G>A (p.Arg675Gln) c.2128+5600G>A (n.2128+5600G>A) n.2232G>A n.2440G>A c.1649G>A (p.Arg550Gln) c.674G>A (p.Arg225Gln) c.1388G>A (p.Arg463Gln) n.2184G>A n.2392G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.197427556G>C | CA344036736 | CRB1 | c.2231G>C (p.Arg744Pro) c.1112G>C (p.Arg371Pro) c.374G>C (p.Arg125Pro) c.1895G>C (p.Arg632Pro) n.132G>C c.2024G>C (p.Arg675Pro) c.2128+5600G>C (n.2128+5600G>C) n.2232G>C n.2440G>C c.1649G>C (p.Arg550Pro) c.674G>C (p.Arg225Pro) c.1388G>C (p.Arg463Pro) n.2184G>C n.2392G>C | gnomAD v4 |
| 1 | g.197427556G= | CA1144446859 | CRB1 | c.2231G= (p.Arg744=) c.1112G= (p.Arg371=) c.374G= (p.Arg125=) c.1895G= (p.Arg632=) n.132G= c.2024G= (p.Arg675=) c.2128+5600G= (n.2128+5600G=) n.2232G= n.2440G= c.1649G= (p.Arg550=) c.674G= (p.Arg225=) c.1388G= (p.Arg463=) n.2184G= n.2392G= | |
| 1 | g.197427556G>T | CA344036738 | CRB1 | c.2231G>T (p.Arg744Leu) c.1112G>T (p.Arg371Leu) c.374G>T (p.Arg125Leu) c.1895G>T (p.Arg632Leu) n.132G>T c.2024G>T (p.Arg675Leu) c.2128+5600G>T (n.2128+5600G>T) n.2232G>T n.2440G>T c.1649G>T (p.Arg550Leu) c.674G>T (p.Arg225Leu) c.1388G>T (p.Arg463Leu) n.2184G>T n.2392G>T | gnomAD v4 |
| 1 | g.197427557A>C | CA422808952 | CRB1 | c.2232A>C (p.Arg744=) c.1113A>C (p.Arg371=) c.375A>C (p.Arg125=) c.1896A>C (p.Arg632=) n.133A>C c.2025A>C (p.Arg675=) c.2128+5601A>C (n.2128+5601A>C) n.2233A>C n.2441A>C c.1650A>C (p.Arg550=) c.675A>C (p.Arg225=) c.1389A>C (p.Arg463=) n.2185A>C n.2393A>C | |
| 1 | g.197427557A>G | CA422808954 | CRB1 | c.2232A>G (p.Arg744=) c.1113A>G (p.Arg371=) c.375A>G (p.Arg125=) c.1896A>G (p.Arg632=) n.133A>G c.2025A>G (p.Arg675=) c.2128+5601A>G (n.2128+5601A>G) n.2233A>G n.2441A>G c.1650A>G (p.Arg550=) c.675A>G (p.Arg225=) c.1389A>G (p.Arg463=) n.2185A>G n.2393A>G | |
| 1 | g.197427557A>T | CA422808953 | CRB1 | c.2232A>T (p.Arg744=) c.1113A>T (p.Arg371=) c.375A>T (p.Arg125=) c.1896A>T (p.Arg632=) n.133A>T c.2025A>T (p.Arg675=) c.2128+5601A>T (n.2128+5601A>T) n.2233A>T n.2441A>T c.1650A>T (p.Arg550=) c.675A>T (p.Arg225=) c.1389A>T (p.Arg463=) n.2185A>T n.2393A>T | |
| 1 | g.197427558A= | CA1218065997 | CRB1 | c.2233A= (p.Thr745=) c.1114A= (p.Thr372=) c.376A= (p.Thr126=) c.1897A= (p.Thr633=) n.134A= c.2026A= (p.Thr676=) c.2128+5602A= (n.2128+5602A=) n.2234A= n.2442A= c.1651A= (p.Thr551=) c.676A= (p.Thr226=) c.1390A= (p.Thr464=) n.2186A= n.2394A= | |
| 1 | g.197427558A>C | CA344036741 | CRB1 | c.2233A>C (p.Thr745Pro) c.1114A>C (p.Thr372Pro) c.376A>C (p.Thr126Pro) c.1897A>C (p.Thr633Pro) n.134A>C c.2026A>C (p.Thr676Pro) c.2128+5602A>C (n.2128+5602A>C) n.2234A>C n.2442A>C c.1651A>C (p.Thr551Pro) c.676A>C (p.Thr226Pro) c.1390A>C (p.Thr464Pro) n.2186A>C n.2394A>C | |
| 1 | g.197427558A>G | CA1312081 | CRB1 | c.2233A>G (p.Thr745Ala) c.1114A>G (p.Thr372Ala) c.376A>G (p.Thr126Ala) c.1897A>G (p.Thr633Ala) n.134A>G c.2026A>G (p.Thr676Ala) c.2128+5602A>G (n.2128+5602A>G) n.2234A>G n.2442A>G c.1651A>G (p.Thr551Ala) c.676A>G (p.Thr226Ala) c.1390A>G (p.Thr464Ala) n.2186A>G n.2394A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197427558A>T | CA344036743 | CRB1 | c.2233A>T (p.Thr745Ser) c.1114A>T (p.Thr372Ser) c.376A>T (p.Thr126Ser) c.1897A>T (p.Thr633Ser) n.134A>T c.2026A>T (p.Thr676Ser) c.2128+5602A>T (n.2128+5602A>T) n.2234A>T n.2442A>T c.1651A>T (p.Thr551Ser) c.676A>T (p.Thr226Ser) c.1390A>T (p.Thr464Ser) n.2186A>T n.2394A>T | |
| 1 | g.197427559C>A | CA35900398 | CRB1 | c.2234C>A (p.Thr745Lys) c.1115C>A (p.Thr372Lys) c.377C>A (p.Thr126Lys) c.1898C>A (p.Thr633Lys) n.135C>A c.2027C>A (p.Thr676Lys) c.2128+5603C>A (n.2128+5603C>A) n.2235C>A n.2443C>A c.1652C>A (p.Thr551Lys) c.677C>A (p.Thr226Lys) c.1391C>A (p.Thr464Lys) n.2187C>A n.2395C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197427559C= | CA1140496125 | CRB1 | c.2234C= (p.Thr745=) c.1115C= (p.Thr372=) c.377C= (p.Thr126=) c.1898C= (p.Thr633=) n.135C= c.2027C= (p.Thr676=) c.2128+5603C= (n.2128+5603C=) n.2235C= n.2443C= c.1652C= (p.Thr551=) c.677C= (p.Thr226=) c.1391C= (p.Thr464=) n.2187C= n.2395C= |